エントリ,名称,下位グループ,上位グループ,概要,カテゴリ,ネットワーク,病因遺伝子,病原体,環境要因,発癌物質,治療薬,コメント,リンク,文献,エントリ_link,名称_link,概要_link,ネットワーク_link,病因遺伝子_link,病原体_link,環境要因_link,発癌物質_link,治療薬_link,コメント_link,リンク_link,文献_link
H00001,"B細胞急性リンパ性白血病;
 B細胞リンパ芽球性白血病
 下位グループ    フィラデルフィア染色体陽性急性リンパ性白血病
 B細胞リンパ芽球性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). In the case of B-ALL, numerous reports have demonstrated that recurring genetic abnormalities are associated with sufficiently unique clinical, immunophenotypic, and/or prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 fusion (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT-PBX1 fusion (E2A-PBX); the t(9;22) (q34;q11.2) ""Philadelphia"" chromosome resulting in expression of the BCR-ABL1 fusion; and rearrangements of MLL (also known as KMT2A) at 11q23 to a diverse array of fusion partners. If none of these specific genetic abnormalities are found, the designation of ""B lymphoblastic leukemia/lymphoma, not otherwise specified,"" is appropriate.",がん,,"BCR-ABL (translocation) [HSA:25] [KO:K06619]
 MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184]
 E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355]
 TEL-AML1 (translocation) [HSA:861] [KO:K08367]
 c-MYC (rearrangement) [HSA:4609] [KO:K04377]
 CRLF2 (rearrangement) [HSA:64109] [KO:K05078]
 PAX5 (rearrangement) [HSA:5079] [KO:K09383]",,,"*Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *: Although this is a risk factor for ALL in general, the strength of association with different histological tumor types is not well understood.","ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 メルカプトプリン水和物 [DR:D00161]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 エノシタビン [DR:D01633]
 フルダラビンリン酸エステル [DR:D01907]
 クロファラビン [DR:D03546]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 ダウノルビシン塩酸塩 [DR:D01264]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 イノツズマブオゾガマイシン [DR:D08933] (CD22陽性)
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンクリスチン硫酸塩 [DR:D02197]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 イマチニブメシル酸塩 [DR:D01441] (フィラデルフィア染色体陽性)
 ダサチニブ水和物 [DR:D06414] (フィラデルフィア染色体陽性)
 ポナチニブ塩酸塩 [DR:D09951] (フィラデルフィア染色体陽性)
 ブリナツモマブ [DR:D09325]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 L-アスパラギナーゼ [DR:D02997]
 ソブゾキサン [DR:D01404]
 チサゲンレクルユーセル [DR:D11386] (CD19陽性)",,"ICD-11: 2A70
 ICD-10: C83.5 C91.0
 MeSH: D054198","PMID:25781572
 著者        Roberts KG, Mullighan CG
 タイトル      Genomics in acute lymphoblastic leukaemia: insights and treatment implications.
 雑誌        Nat Rev Clin Oncol 12:344-57 (2015)
 DOI:10.1038/nrclinonc.2015.38
 PMID:23023711
 著者        Mullighan CG
 タイトル      Molecular genetics of B-precursor acute lymphoblastic leukemia.
 雑誌        J Clin Invest 122:3407-15 (2012)
 DOI:10.1172/JCI61203
 PMID:18783329
 著者        Teitell MA, Pandolfi PP
 タイトル      Molecular genetics of acute lymphoblastic leukemia.
 雑誌        Annu Rev Pathol 4:175-98 (2009)
 DOI:10.1146/annurev.pathol.4.110807.092227
 PMID:19357394
 著者        Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A, Bloomfield CD
 タイトル      The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
 雑誌        Blood 114:937-51 (2009)
 DOI:10.1182/blood-2009-03-209262
 PMID:22449370
 著者        Cornell RF, Palmer J
 タイトル      Adult acute leukemia.
 雑誌        Dis Mon 58:219-38 (2012)
 DOI:10.1016/j.disamonth.2012.01.011
 PMID:27069254 (tumor type)
 著者        Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
 タイトル      The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
 雑誌        Blood 127:2391-405 (2016)
 DOI:10.1182/blood-2016-03-643544
 PMID:12556326 (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:10.1080/0955300021000038671","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00001"">H00001</a>","B細胞急性リンパ性白血病;
 B細胞リンパ芽球性白血病
 下位グループ    フィラデルフィア染色体陽性急性リンパ性白血病
 B細胞リンパ芽球性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). In the case of B-ALL, numerous reports have demonstrated that recurring genetic abnormalities are associated with sufficiently unique clinical, immunophenotypic, and/or prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 fusion (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT-PBX1 fusion (E2A-PBX); the t(9;22) (q34;q11.2) ""Philadelphia"" chromosome resulting in expression of the BCR-ABL1 fusion; and rearrangements of MLL (also known as KMT2A) at 11q23 to a diverse array of fusion partners. If none of these specific genetic abnormalities are found, the designation of ""B lymphoblastic leukemia/lymphoma, not otherwise specified,"" is appropriate.",,"BCR-ABL (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25"">25</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06619"">K06619</a>]
 MLL-AF4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4297"">4297</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4299"">4299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09186"">K09186</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15184"">K15184</a>]
 E2A-PBX1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6929"">6929</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5087"">5087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09063"">K09063</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09355"">K09355</a>]
 TEL-AML1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 c-MYC (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 CRLF2 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64109"">64109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05078"">K05078</a>]
 PAX5 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5079"">5079</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09383"">K09383</a>]",,,"*Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *: Although this is a risk factor for ALL in general, the strength of association with different histological tumor types is not well understood.","ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 メルカプトプリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00161"">D00161</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 エノシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01633"">D01633</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 クロファラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03546"">D03546</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ダウノルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01264"">D01264</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 イノツズマブオゾガマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08933"">D08933</a>] (CD22陽性)
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 イマチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01441"">D01441</a>] (フィラデルフィア染色体陽性)
 ダサチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06414"">D06414</a>] (フィラデルフィア染色体陽性)
 ポナチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09951"">D09951</a>] (フィラデルフィア染色体陽性)
 ブリナツモマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09325"">D09325</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 チサゲンレクルユーセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11386"">D11386</a>] (CD19陽性)",,"ICD-11: 2A70
 ICD-10: C83.5 C91.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054198"">D054198</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25781572"">25781572</a>
 著者        Roberts KG, Mullighan CG
 タイトル      Genomics in acute lymphoblastic leukaemia: insights and treatment implications.
 雑誌        Nat Rev Clin Oncol 12:344-57 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrclinonc.2015.38"">10.1038/nrclinonc.2015.38</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023711"">23023711</a>
 著者        Mullighan CG
 タイトル      Molecular genetics of B-precursor acute lymphoblastic leukemia.
 雑誌        J Clin Invest 122:3407-15 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI61203"">10.1172/JCI61203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18783329"">18783329</a>
 著者        Teitell MA, Pandolfi PP
 タイトル      Molecular genetics of acute lymphoblastic leukemia.
 雑誌        Annu Rev Pathol 4:175-98 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.pathol.4.110807.092227"">10.1146/annurev.pathol.4.110807.092227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19357394"">19357394</a>
 著者        Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A, Bloomfield CD
 タイトル      The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
 雑誌        Blood 114:937-51 (2009)
 DOI:<a href=""https://doi.org/10.1182/blood-2009-03-209262"">10.1182/blood-2009-03-209262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22449370"">22449370</a>
 著者        Cornell RF, Palmer J
 タイトル      Adult acute leukemia.
 雑誌        Dis Mon 58:219-38 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2012.01.011"">10.1016/j.disamonth.2012.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27069254"">27069254</a> (tumor <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
 タイトル      The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
 雑誌        Blood 127:2391-405 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2016-03-643544"">10.1182/blood-2016-03-643544</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12556326"">12556326</a> (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:<a href=""https://doi.org/10.1080/0955300021000038671"">10.1080/0955300021000038671</a>"
H00002,"T細胞急性リンパ性白血病;
 T細胞リンパ芽球性白血病
 下位グループ    T細胞リンパ芽球性リンパ腫",,,"Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). T-ALL comprises 15% of paediatric and 25% of adult ALL cases. T cell transformation is a multi-step process in which different genetic alterations cooperate to alter the normal mechanisms that control cell growth, proliferation, survival, and differentiation during thymocyte development. In this context, constitutive activation of NOTCH1 signaling is the most prominent oncogenic pathway in T cell transformation. In addition, T-ALLs characteristically show the translocation and aberrant expression of transcription factor oncogenes. These oncogenic transcription factors include T-cell leukaemia homeobox protein 1 (TLX1 also known as HOX11), TLX3 (HOX11L2), LYL1, TAL1 and MLL.",がん,,"NOTCH1 (mutation) [HSA:4851] [KO:K02599]
 TAL1 (overexpression) [HSA:6886] [KO:K09068]
 TAL2 [HSA:6887] [KO:K09068]
 LYL1 (expression) [HSA:4066] [KO:K15604]
 MLL-ENL (translocation) [HSA:4297] [KO:K09186]
 HOX11 (translocation) [HSA:3195] [KO:K09340]
 MYC (translocation) [HSA:4609] [KO:K04377]
 LMO2 (translocation) [HSA:4005] [KO:K15612]
 HOX11L2 (translocation) [HSA:30012] [KO:K15607]
 PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588]",,,"*Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *: Although this is a risk factor for ALL in general, the strength of association with different histological tumor types is not well understood.","ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 メルカプトプリン水和物 [DR:D00161]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 エノシタビン [DR:D01633]
 フルダラビンリン酸エステル [DR:D01907]
 クロファラビン [DR:D03546]
 ネララビン [DR:D05134]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 ダウノルビシン塩酸塩 [DR:D01264]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 イノツズマブオゾガマイシン [DR:D08933] (CD22陽性)
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンクリスチン硫酸塩 [DR:D02197]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 L-アスパラギナーゼ [DR:D02997]
 ソブゾキサン [DR:D01404]",,"ICD-11: 2A71
 ICD-10: C83.5 C91.0
 MeSH: D054218","PMID:25781572
 著者        Roberts KG, Mullighan CG
 タイトル      Genomics in acute lymphoblastic leukaemia: insights and treatment implications.
 雑誌        Nat Rev Clin Oncol 12:344-57 (2015)
 DOI:10.1038/nrclinonc.2015.38
 PMID:18783329
 著者        Teitell MA, Pandolfi PP
 タイトル      Molecular genetics of acute lymphoblastic leukemia.
 雑誌        Annu Rev Pathol 4:175-98 (2009)
 DOI:10.1146/annurev.pathol.4.110807.092227
 PMID:23023710
 著者        Van Vlierberghe P, Ferrando A
 タイトル      The molecular basis of T cell acute lymphoblastic leukemia.
 雑誌        J Clin Invest 122:3398-406 (2012)
 DOI:10.1172/JCI61269
 PMID:22449370
 著者        Cornell RF, Palmer J
 タイトル      Adult acute leukemia.
 雑誌        Dis Mon 58:219-38 (2012)
 DOI:10.1016/j.disamonth.2012.01.011
 PMID:22145858
 著者        Kraszewska MD, Dawidowska M, Szczepanski T, Witt M
 タイトル      T-cell acute lymphoblastic leukaemia: recent molecular biology findings.
 雑誌        Br J Haematol 156:303-15 (2012)
 DOI:10.1111/j.1365-2141.2011.08957.x
 PMID:27069254 (tumor type)
 著者        Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
 タイトル      The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
 雑誌        Blood 127:2391-405 (2016)
 DOI:10.1182/blood-2016-03-643544
 PMID:12556326 (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:10.1080/0955300021000038671
 PMID:1763056
 著者        Xia Y, Brown L, Yang CY, Tsan JT, Siciliano MJ, Espinosa R 3rd, Le Beau MM, Baer RJ
 タイトル      TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia.
 雑誌        Proc Natl Acad Sci U S A 88:11416-20 (1991)
 DOI:10.1073/pnas.88.24.11416","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00002"">H00002</a>","T細胞急性リンパ性白血病;
 T細胞リンパ芽球性白血病
 下位グループ    T細胞リンパ芽球性リンパ腫","Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). T-ALL comprises 15% of paediatric and 25% of adult ALL cases. T cell transformation is a multi-step process in which different genetic alterations cooperate to alter the normal mechanisms that control cell growth, proliferation, survival, and differentiation during thymocyte development. In this context, constitutive activation of NOTCH1 signaling is the most prominent oncogenic pathway in T cell transformation. In addition, T-ALLs characteristically show the translocation and aberrant expression of transcription factor oncogenes. These oncogenic transcription factors include T-cell leukaemia homeobox protein 1 (TLX1 also known as HOX11), TLX3 (HOX11L2), LYL1, TAL1 and MLL.",,"NOTCH1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4851"">4851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02599"">K02599</a>]
 TAL1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6886"">6886</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09068"">K09068</a>]
 TAL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6887"">6887</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09068"">K09068</a>]
 LYL1 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4066"">4066</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15604"">K15604</a>]
 MLL-ENL (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4297"">4297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09186"">K09186</a>]
 HOX11 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3195"">3195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09340"">K09340</a>]
 MYC (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 LMO2 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4005"">4005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15612"">K15612</a>]
 HOX11L2 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30012"">30012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15607"">K15607</a>]
 PICALM-MLLT10 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8028"">8028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23588"">K23588</a>]",,,"*Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *: Although this is a risk factor for ALL in general, the strength of association with different histological tumor types is not well understood.","ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 メルカプトプリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00161"">D00161</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 エノシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01633"">D01633</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 クロファラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03546"">D03546</a>]
 ネララビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05134"">D05134</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ダウノルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01264"">D01264</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 イノツズマブオゾガマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08933"">D08933</a>] (CD22陽性)
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]",,"ICD-11: 2A71
 ICD-10: C83.5 C91.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054218"">D054218</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25781572"">25781572</a>
 著者        Roberts KG, Mullighan CG
 タイトル      Genomics in acute lymphoblastic leukaemia: insights and treatment implications.
 雑誌        Nat Rev Clin Oncol 12:344-57 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrclinonc.2015.38"">10.1038/nrclinonc.2015.38</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18783329"">18783329</a>
 著者        Teitell MA, Pandolfi PP
 タイトル      Molecular genetics of acute lymphoblastic leukemia.
 雑誌        Annu Rev Pathol 4:175-98 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.pathol.4.110807.092227"">10.1146/annurev.pathol.4.110807.092227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023710"">23023710</a>
 著者        Van Vlierberghe P, Ferrando A
 タイトル      The molecular basis of T cell acute lymphoblastic leukemia.
 雑誌        J Clin Invest 122:3398-406 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI61269"">10.1172/JCI61269</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22449370"">22449370</a>
 著者        Cornell RF, Palmer J
 タイトル      Adult acute leukemia.
 雑誌        Dis Mon 58:219-38 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2012.01.011"">10.1016/j.disamonth.2012.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22145858"">22145858</a>
 著者        Kraszewska MD, Dawidowska M, Szczepanski T, Witt M
 タイトル      T-cell acute lymphoblastic leukaemia: recent molecular biology findings.
 雑誌        Br J Haematol 156:303-15 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2011.08957.x"">10.1111/j.1365-2141.2011.08957.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27069254"">27069254</a> (tumor <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
 タイトル      The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
 雑誌        Blood 127:2391-405 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2016-03-643544"">10.1182/blood-2016-03-643544</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12556326"">12556326</a> (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:<a href=""https://doi.org/10.1080/0955300021000038671"">10.1080/0955300021000038671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1763056"">1763056</a>
 著者        Xia Y, Brown L, Yang CY, Tsan JT, Siciliano MJ, Espinosa R 3rd, Le Beau MM, Baer RJ
 タイトル      TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia.
 雑誌        Proc Natl Acad Sci U S A 88:11416-20 (1991)
 DOI:<a href=""https://doi.org/10.1073/pnas.88.24.11416"">10.1073/pnas.88.24.11416</a>"
H00003,"急性骨髄性白血病
 下位グループ    急性前骨髄球性白血病 [DS:H02542]",,,"Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death. Two major types of genetic events have been described that are crucial for leukemic transformation. A proposed necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events were observed in the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor fusion proteins such as PML-RARalpha (in Acute promyelocytic leukemia, a subtype of AML), AML-ETO or PLZF-RARalpha block myeloid cell differentiation by repressing target genes. In other cases, the transcription factors themselves are mutated.",がん,nt06275  Acute myeloid leukemia,"PML-RARalpha (translocation) [HSA:5371] [KO:K10054]
 AML1-ETO (translocation) [HSA:861] [KO:K08367]
 PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055]
 FLT3 [HSA:2322] [KO:K05092]
 KIT [HSA:3815] [KO:K05091]
 NRAS [HSA:4893] [KO:K07828]
 KRAS [HSA:3845] [KO:K07827]
 AML1 [HSA:861] [KO:K08367]
 CEBPA [HSA:1050] [KO:K09055]
 CBFB [HSA:865] [KO:K25826]
 CHIC2 [HSA:26511]
 DNMT3A [HSA:1788] [KO:K17398]
 ETV6 [HSA:2120] [KO:K03211]
 GATA2 [HSA:2624] [KO:K17894]
 JAK2 [HSA:3717] [KO:K04447]
 LPP [HSA:4026] [KO:K16676]
 MLLT10 [HSA:8028] [KO:K23588]
 NPM1 [HSA:4869] [KO:K11276]
 NUP214 [HSA:8021] [KO:K14317]
 PICALM [HSA:8301] [KO:K20044]
 SH3GL1 [HSA:6455] [KO:K11247]
 TERT [HSA:7015] [KO:K11126]",,,"Benzene [CPD:C01407]
 1,4-Butanediol dimethanesulfonate (Busulphan; Myleran) [CPD:C06862]
 Chlorambucil [CPD:C06900]
 Cyclophosphamide [CPD:C07888]
 Ethylene oxide [CPD:C06548]
 Melphalan [CPD:C07122]
 Thiotepa [CPD:C07641]","ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 レノグラスチム [DR:D03247]
 シクロホスファミド水和物 [DR:D00287]
 メルカプトプリン水和物 [DR:D00161]
 シタラビン [DR:D00168]
 シタラビンオクホスファート水和物 [DR:D03046]
 エノシタビン [DR:D01633]
 フルダラビンリン酸エステル [DR:D01907]
 ダウノルビシン塩酸塩 [DR:D01264]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 イダルビシン塩酸塩 [DR:D01747]
 ゲムツズマブオゾガマイシン [DR:D03259] (CD33陽性)
 ビンクリスチン硫酸塩 [DR:D02197]
 ビンデシン硫酸塩 [DR:D01769]
 トレチノイン [DR:D00094]
 アザシチジン [DR:D03021]
 ミトキサントロン塩酸塩 [DR:D02166]
 キザルチニブ塩酸塩 [DR:D09956] (FLT3-ITD変異陽性)
 ギルテリチニブフマル酸塩 [DR:D10800] (FLT3遺伝子変異陽性)
 L-アスパラギナーゼ [DR:D02997]
 三酸化二ヒ素 [DR:D02106]
 ベネトクラクス [DR:D10679]
 タミバロテン [DR:D01418]
 ウベニメクス [DR:D00087]",,"ICD-11: 2A60
 ICD-10: C92.0
 MeSH: D015470","PMID:10502596
 著者        Lowenberg B, Downing JR, Burnett A.
 タイトル      Acute myeloid leukemia.
 雑誌        N Engl J Med 341:1051-62 (1999)
 DOI:10.1056/NEJM199909303411407
 PMID:16236521
 著者        Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H.
 タイトル      The molecular pathogenesis of acute myeloid leukemia.
 雑誌        Crit Rev Oncol Hematol 56:195-221 (2005)
 DOI:10.1016/j.critrevonc.2004.10.012
 PMID:12194988
 著者        Kelly LM, Gilliland DG.
 タイトル      Genetics of myeloid leukemias.
 雑誌        Annu Rev Genomics Hum Genet 3:179-98 (2002)
 DOI:10.1146/annurev.genom.3.032802.115046
 PMID:1652369 (PML-RARalpha translocation)
 著者        de The H, Lavau C, Marchio A, Chomienne C, Degos L, Dejean A
 タイトル      The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR.
 雑誌        Cell 66:675-84 (1991)
 DOI:10.1016/0092-8674(91)90113-D
 PMID:1391946 (AML1-ETO translocation)
 著者        Erickson P, Gao J, Chang KS, Look T, Whisenant E, Raimondi S, Lasher R, Trujillo J, Rowley J, Drabkin H
 タイトル      Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt.
 雑誌        Blood 80:1825-31 (1992)
 DOI:10.1182/blood.V80.7.1825.1825
 PMID:8622986 (PLZF-RARalpha translocation)
 著者        Dong S, Zhu J, Reid A, Strutt P, Guidez F, Zhong HJ, Wang ZY, Licht J, Waxman S, Chomienne C, Chen Z, Zelent A, Chen SJ
 タイトル      Amino-terminal protein-protein interaction motif (POZ-domain) is responsible for activities of the promyelocytic leukemia zinc finger-retinoic acid receptor-alpha fusion protein.
 雑誌        Proc Natl Acad Sci U S A 93:3624-9 (1996)
 DOI:10.1073/pnas.93.8.3624
 PMID:16757428 (FLT3)
 著者        Kiyoi H, Naoe T.
 タイトル      Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation.
 雑誌        Int J Hematol 83:301-8 (2006)
 DOI:10.1532/IJH97.06071
 PMID:9657776 (KIT)
 著者        Beghini A, Larizza L, Cairoli R, Morra E
 タイトル      c-kit activating mutations and mast cell proliferation in human leukemia.
 雑誌        Blood 92:701-2 (1998)
 DOI:10.1182/blood.V92.2.701
 PMID:23634996 (NRAS)
 著者        Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, Hoadley K, Triche TJ Jr, Laird PW, Baty JD, Fulton LL, Fulton R, Heath SE, Kalicki-Veizer J, Kandoth C, Klco JM, Koboldt DC, Kanchi KL, Kulkarni S, Lamprecht TL, Larson DE, Lin L, Lu C, McLellan MD, McMichael JF, Payton J, Schmidt H, Spencer DH, Tomasson MH, Wallis JW, Wartman LD, Watson MA, Welch J, Wendl MC, Ally A, Balasundaram M, Birol I, Butterfield Y, Chiu R, Chu A, Chuah E, Chun HJ, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt RA, Jones S, Karsan A, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Mungall K, Parker J, Pleasance E, Plettner P, Schein J, Stoll D, Swanson L, Tam A, Thiessen N, Varhol R, Wye N, Zhao Y, Gabriel S, Getz G, Sougnez C, Zou L, Leiserson MD, Vandin F, Wu HT, Applebaum F, Baylin SB, Akbani R, Broom BM, Chen K, Motter TC, Nguyen K, Weinstein JN, Zhang N, Ferguson ML, Adams C, Black A, Bowen J, Gastier-Foster J, Grossman T, Lichtenberg T, Wise L, Davidsen T, Demchok JA, Shaw KR, Sheth M, Sofia HJ, Yang L, Downing JR, Eley G
 タイトル      Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
 雑誌        N Engl J Med 368:2059-74 (2013)
 DOI:10.1056/NEJMoa1301689
 PMID:8955068 (KRAS)
 著者        Bollag G, Adler F, elMasry N, McCabe PC, Conner E Jr, Thompson P, McCormick F, Shannon K
 タイトル      Biochemical characterization of a novel KRAS insertion mutation from a human leukemia.
 雑誌        J Biol Chem 271:32491-4 (1996)
 DOI:10.1074/jbc.271.51.32491
 PMID:10068652 (AML1)
 著者        Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, Suzushima H, Takatsuki K, Kanno T, Shigesada K, Ito Y
 タイトル      Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias.
 雑誌        Blood 93:1817-24 (1999)
 DOI:10.1182/blood.V93.6.1817.406k36_1817_1824
 PMID:15575056 (CEBPA)
 著者        Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J
 タイトル      Mutation of CEBPA in familial acute myeloid leukemia.
 雑誌        N Engl J Med 351:2403-7 (2004)
 DOI:10.1056/NEJMoa041331
 PMID:25678665 (CBFB)
 著者        Illendula A, Pulikkan JA, Zong H, Grembecka J, Xue L, Sen S, Zhou Y, Boulton A, Kuntimaddi A, Gao Y, Rajewski RA, Guzman ML, Castilla LH, Bushweller JH
 タイトル      Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFbeta-SMMHC delays leukemia in mice.
 雑誌        Science 347:779-84 (2015)
 DOI:10.1126/science.aaa0314
 PMID:10477709 (CHIC2)
 著者        Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P
 タイトル      Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).
 雑誌        Blood 94:1820-4 (1999)
 DOI:10.1182/blood.V94.5.1820
 PMID:21067377 (DNMT3A)
 著者        Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, Kandoth C, Payton JE, Baty J, Welch J, Harris CC, Lichti CF, Townsend RR, Fulton RS, Dooling DJ, Koboldt DC, Schmidt H, Zhang Q, Osborne JR, Lin L, O'Laughlin M, McMichael JF, Delehaunty KD, McGrath SD, Fulton LA, Magrini VJ, Vickery TL, Hundal J, Cook LL, Conyers JJ, Swift GW, Reed JP, Alldredge PA, Wylie T, Walker J, Kalicki J, Watson MA, Heath S, Shannon WD, Varghese N, Nagarajan R, Westervelt P, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Wilson RK
 タイトル      DNMT3A mutations in acute myeloid leukemia.
 雑誌        N Engl J Med 363:2424-33 (2010)
 DOI:10.1056/NEJMoa1005143
 PMID:25581430 (ETV6)
 著者        Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A
 タイトル      Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
 雑誌        Nat Genet 47:180-5 (2015)
 DOI:10.1038/ng.3177
 PMID:21892162 (GATA2)
 著者        Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS
 タイトル      Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
 雑誌        Nat Genet 43:1012-7 (2011)
 DOI:10.1038/ng.913
 PMID:16247455 (JAK2)
 著者        Lee JW, Kim YG, Soung YH, Han KJ, Kim SY, Rhim HS, Min WS, Nam SW, Park WS, Lee JY, Yoo NJ, Lee SH
 タイトル      The JAK2 V617F mutation in de novo acute myelogenous leukemias.
 雑誌        Oncogene 25:1434-6 (2006)
 DOI:10.1038/sj.onc.1209163
 PMID:11433529 (LPP)
 著者        Daheron L, Veinstein A, Brizard F, Drabkin H, Lacotte L, Guilhot F, Larsen CJ, Brizard A, Roche J
 タイトル      Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23).
 雑誌        Genes Chromosomes Cancer 31:382-9 (2001)
 DOI:10.1002/gcc.1157
 PMID:8896421 (MLLT10)
 著者        Tanabe S, Bohlander SK, Vignon CV, Espinosa R 3rd, Zhao N, Strissel PL, Zeleznik-Le NJ, Rowley JD
 タイトル      AF10 is split by MLL and HEAB, a human homolog to a putative Caenorhabditis elegans ATP/GTP-binding protein in an invins(10;11)(p12;q23q12).
 雑誌        Blood 88:3535-45 (1996)
 PMID:18308931 (NPM1)
 著者        Garzon R, Garofalo M, Martelli MP, Briesewitz R, Wang L, Fernandez-Cymering C, Volinia S, Liu CG, Schnittger S, Haferlach T, Liso A, Diverio D, Mancini M, Meloni G, Foa R, Martelli MF, Mecucci C, Croce CM, Falini B
 タイトル      Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin.
 雑誌        Proc Natl Acad Sci U S A 105:3945-50 (2008)
 DOI:10.1073/pnas.0800135105
 PMID:2370860 (NUP214)
 著者        von Lindern M, Poustka A, Lerach H, Grosveld G
 タイトル      The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.
 雑誌        Mol Cell Biol 10:4016-26 (1990)
 DOI:10.1128/mcb.10.8.4016-4026.1990
 PMID:10637483 (PICALM)
 著者        Carlson KM, Vignon C, Bohlander S, Martinez-Climent JA, Le Beau MM, Rowley JD
 タイトル      Identification and molecular characterization of CALM/AF10fusion products in T cell acute lymphoblastic leukemia and acute myeloid leukemia.
 雑誌        Leukemia 14:100-4 (2000)
 DOI:10.1038/sj.leu.2401629
 PMID:9122235 (SH3GL1)
 著者        So CW, Caldas C, Liu MM, Chen SJ, Huang QH, Gu LJ, Sham MH, Wiedemann LM, Chan LC
 タイトル      EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia.
 雑誌        Proc Natl Acad Sci U S A 94:2563-8 (1997)
 DOI:10.1073/pnas.94.6.2563
 PMID:19147845 (TERT)
 著者        Calado RT, Regal JA, Hills M, Yewdell WT, Dalmazzo LF, Zago MA, Lansdorp PM, Hogge D, Chanock SJ, Estey EH, Falcao RP, Young NS
 タイトル      Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
 雑誌        Proc Natl Acad Sci U S A 106:1187-92 (2009)
 DOI:10.1073/pnas.0807057106","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00003"">H00003</a>","急性骨髄性白血病
 下位グループ    急性前骨髄球性白血病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02542"">H02542</a>]","Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death. Two major types of genetic events have been described that are crucial for leukemic transformation. A proposed necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events were observed in the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor fusion proteins such as PML-RARalpha (in Acute promyelocytic leukemia, a subtype of AML), AML-ETO or PLZF-RARalpha block myeloid cell differentiation by repressing target genes. In other cases, the transcription factors themselves are mutated.","<a href=""https://www.kegg.jp/network/nt06275"">nt06275</a>  Acute myeloid leukemia","PML-RARalpha (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5371"">5371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10054"">K10054</a>]
 AML1-ETO (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 PLZF-RARalpha (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7704"">7704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10055"">K10055</a>]
 FLT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2322"">2322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05092"">K05092</a>]
 KIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 AML1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 CEBPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1050"">1050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09055"">K09055</a>]
 CBFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:865"">865</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25826"">K25826</a>]
 CHIC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26511"">26511</a>]
 DNMT3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]
 ETV6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2120"">2120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03211"">K03211</a>]
 GATA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2624"">2624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17894"">K17894</a>]
 JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 LPP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4026"">4026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16676"">K16676</a>]
 MLLT10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8028"">8028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23588"">K23588</a>]
 NPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4869"">4869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11276"">K11276</a>]
 NUP214 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8021"">8021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14317"">K14317</a>]
 PICALM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8301"">8301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20044"">K20044</a>]
 SH3GL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6455"">6455</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11247"">K11247</a>]
 TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]",,,"Benzene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01407"">C01407</a>]
 1,4-Butanediol dimethanesulfonate (Busulphan; Myleran) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06862"">C06862</a>]
 Chlorambucil [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06900"">C06900</a>]
 Cyclophosphamide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07888"">C07888</a>]
 Ethylene oxide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06548"">C06548</a>]
 Melphalan [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07122"">C07122</a>]
 Thiotepa [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07641"">C07641</a>]","ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 レノグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03247"">D03247</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 メルカプトプリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00161"">D00161</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 シタラビンオクホスファート水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03046"">D03046</a>]
 エノシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01633"">D01633</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ダウノルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01264"">D01264</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 イダルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01747"">D01747</a>]
 ゲムツズマブオゾガマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03259"">D03259</a>] (CD33陽性)
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 トレチノイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00094"">D00094</a>]
 アザシチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03021"">D03021</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 キザルチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09956"">D09956</a>] (FLT3-ITD変異陽性)
 ギルテリチニブフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10800"">D10800</a>] (FLT3遺伝子変異陽性)
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 三酸化二ヒ素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02106"">D02106</a>]
 ベネトクラクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10679"">D10679</a>]
 タミバロテン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01418"">D01418</a>]
 ウベニメクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00087"">D00087</a>]",,"ICD-11: 2A60
 ICD-10: C92.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015470"">D015470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10502596"">10502596</a>
 著者        Lowenberg B, Downing JR, Burnett A.
 タイトル      Acute myeloid leukemia.
 雑誌        N Engl J Med 341:1051-62 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199909303411407"">10.1056/NEJM199909303411407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16236521"">16236521</a>
 著者        Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H.
 タイトル      The molecular pathogenesis of acute myeloid leukemia.
 雑誌        Crit Rev Oncol Hematol 56:195-221 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2004.10.012"">10.1016/j.critrevonc.2004.10.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12194988"">12194988</a>
 著者        Kelly LM, Gilliland DG.
 タイトル      Genetics of myeloid leukemias.
 雑誌        Annu Rev Genomics Hum Genet 3:179-98 (2002)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.3.032802.115046"">10.1146/annurev.genom.3.032802.115046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1652369"">1652369</a> (PML-RARalpha <a href=""https://pubmed.ncbi.nlm.nih.gov/translocation)"">translocation)</a>
 著者        de The H, Lavau C, Marchio A, Chomienne C, Degos L, Dejean A
 タイトル      The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR.
 雑誌        Cell 66:675-84 (1991)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(91)90113-D"">10.1016/0092-8674(91)90113-D</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1391946"">1391946</a> (AML1-ETO <a href=""https://pubmed.ncbi.nlm.nih.gov/translocation)"">translocation)</a>
 著者        Erickson P, Gao J, Chang KS, Look T, Whisenant E, Raimondi S, Lasher R, Trujillo J, Rowley J, Drabkin H
 タイトル      Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt.
 雑誌        Blood 80:1825-31 (1992)
 DOI:<a href=""https://doi.org/10.1182/blood.V80.7.1825.1825"">10.1182/blood.V80.7.1825.1825</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8622986"">8622986</a> (PLZF-RARalpha <a href=""https://pubmed.ncbi.nlm.nih.gov/translocation)"">translocation)</a>
 著者        Dong S, Zhu J, Reid A, Strutt P, Guidez F, Zhong HJ, Wang ZY, Licht J, Waxman S, Chomienne C, Chen Z, Zelent A, Chen SJ
 タイトル      Amino-terminal protein-protein interaction motif (POZ-domain) is responsible for activities of the promyelocytic leukemia zinc finger-retinoic acid receptor-alpha fusion protein.
 雑誌        Proc Natl Acad Sci U S A 93:3624-9 (1996)
 DOI:<a href=""https://doi.org/10.1073/pnas.93.8.3624"">10.1073/pnas.93.8.3624</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16757428"">16757428</a> (FLT3)
 著者        Kiyoi H, Naoe T.
 タイトル      Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation.
 雑誌        Int J Hematol 83:301-8 (2006)
 DOI:<a href=""https://doi.org/10.1532/IJH97.06071"">10.1532/IJH97.06071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9657776"">9657776</a> (KIT)
 著者        Beghini A, Larizza L, Cairoli R, Morra E
 タイトル      c-kit activating mutations and mast cell proliferation in human leukemia.
 雑誌        Blood 92:701-2 (1998)
 DOI:<a href=""https://doi.org/10.1182/blood.V92.2.701"">10.1182/blood.V92.2.701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23634996"">23634996</a> (NRAS)
 著者        Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, Hoadley K, Triche TJ Jr, Laird PW, Baty JD, Fulton LL, Fulton R, Heath SE, Kalicki-Veizer J, Kandoth C, Klco JM, Koboldt DC, Kanchi KL, Kulkarni S, Lamprecht TL, Larson DE, Lin L, Lu C, McLellan MD, McMichael JF, Payton J, Schmidt H, Spencer DH, Tomasson MH, Wallis JW, Wartman LD, Watson MA, Welch J, Wendl MC, Ally A, Balasundaram M, Birol I, Butterfield Y, Chiu R, Chu A, Chuah E, Chun HJ, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt RA, Jones S, Karsan A, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Mungall K, Parker J, Pleasance E, Plettner P, Schein J, Stoll D, Swanson L, Tam A, Thiessen N, Varhol R, Wye N, Zhao Y, Gabriel S, Getz G, Sougnez C, Zou L, Leiserson MD, Vandin F, Wu HT, Applebaum F, Baylin SB, Akbani R, Broom BM, Chen K, Motter TC, Nguyen K, Weinstein JN, Zhang N, Ferguson ML, Adams C, Black A, Bowen J, Gastier-Foster J, Grossman T, Lichtenberg T, Wise L, Davidsen T, Demchok JA, Shaw KR, Sheth M, Sofia HJ, Yang L, Downing JR, Eley G
 タイトル      Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
 雑誌        N Engl J Med 368:2059-74 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1301689"">10.1056/NEJMoa1301689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8955068"">8955068</a> (KRAS)
 著者        Bollag G, Adler F, elMasry N, McCabe PC, Conner E Jr, Thompson P, McCormick F, Shannon K
 タイトル      Biochemical characterization of a novel KRAS insertion mutation from a human leukemia.
 雑誌        J Biol Chem 271:32491-4 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.51.32491"">10.1074/jbc.271.51.32491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10068652"">10068652</a> (AML1)
 著者        Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, Suzushima H, Takatsuki K, Kanno T, Shigesada K, Ito Y
 タイトル      Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias.
 雑誌        Blood 93:1817-24 (1999)
 DOI:<a href=""https://doi.org/10.1182/blood.V93.6.1817.406k36_1817_1824"">10.1182/blood.V93.6.1817.406k36_1817_1824</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15575056"">15575056</a> (CEBPA)
 著者        Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J
 タイトル      Mutation of CEBPA in familial acute myeloid leukemia.
 雑誌        N Engl J Med 351:2403-7 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa041331"">10.1056/NEJMoa041331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25678665"">25678665</a> (CBFB)
 著者        Illendula A, Pulikkan JA, Zong H, Grembecka J, Xue L, Sen S, Zhou Y, Boulton A, Kuntimaddi A, Gao Y, Rajewski RA, Guzman ML, Castilla LH, Bushweller JH
 タイトル      Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFbeta-SMMHC delays leukemia in mice.
 雑誌        Science 347:779-84 (2015)
 DOI:<a href=""https://doi.org/10.1126/science.aaa0314"">10.1126/science.aaa0314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10477709"">10477709</a> (CHIC2)
 著者        Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P
 タイトル      Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).
 雑誌        Blood 94:1820-4 (1999)
 DOI:<a href=""https://doi.org/10.1182/blood.V94.5.1820"">10.1182/blood.V94.5.1820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21067377"">21067377</a> (DNMT3A)
 著者        Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, Kandoth C, Payton JE, Baty J, Welch J, Harris CC, Lichti CF, Townsend RR, Fulton RS, Dooling DJ, Koboldt DC, Schmidt H, Zhang Q, Osborne JR, Lin L, O'Laughlin M, McMichael JF, Delehaunty KD, McGrath SD, Fulton LA, Magrini VJ, Vickery TL, Hundal J, Cook LL, Conyers JJ, Swift GW, Reed JP, Alldredge PA, Wylie T, Walker J, Kalicki J, Watson MA, Heath S, Shannon WD, Varghese N, Nagarajan R, Westervelt P, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Wilson RK
 タイトル      DNMT3A mutations in acute myeloid leukemia.
 雑誌        N Engl J Med 363:2424-33 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1005143"">10.1056/NEJMoa1005143</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25581430"">25581430</a> (ETV6)
 著者        Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A
 タイトル      Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
 雑誌        Nat Genet 47:180-5 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3177"">10.1038/ng.3177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21892162"">21892162</a> (GATA2)
 著者        Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS
 タイトル      Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
 雑誌        Nat Genet 43:1012-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.913"">10.1038/ng.913</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16247455"">16247455</a> (JAK2)
 著者        Lee JW, Kim YG, Soung YH, Han KJ, Kim SY, Rhim HS, Min WS, Nam SW, Park WS, Lee JY, Yoo NJ, Lee SH
 タイトル      The JAK2 V617F mutation in de novo acute myelogenous leukemias.
 雑誌        Oncogene 25:1434-6 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1209163"">10.1038/sj.onc.1209163</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11433529"">11433529</a> (LPP)
 著者        Daheron L, Veinstein A, Brizard F, Drabkin H, Lacotte L, Guilhot F, Larsen CJ, Brizard A, Roche J
 タイトル      Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23).
 雑誌        Genes Chromosomes Cancer 31:382-9 (2001)
 DOI:<a href=""https://doi.org/10.1002/gcc.1157"">10.1002/gcc.1157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8896421"">8896421</a> (MLLT10)
 著者        Tanabe S, Bohlander SK, Vignon CV, Espinosa R 3rd, Zhao N, Strissel PL, Zeleznik-Le NJ, Rowley JD
 タイトル      AF10 is split by MLL and HEAB, a human homolog to a putative Caenorhabditis elegans ATP/GTP-binding protein in an invins(10;11)(p12;q23q12).
 雑誌        Blood 88:3535-45 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18308931"">18308931</a> (NPM1)
 著者        Garzon R, Garofalo M, Martelli MP, Briesewitz R, Wang L, Fernandez-Cymering C, Volinia S, Liu CG, Schnittger S, Haferlach T, Liso A, Diverio D, Mancini M, Meloni G, Foa R, Martelli MF, Mecucci C, Croce CM, Falini B
 タイトル      Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin.
 雑誌        Proc Natl Acad Sci U S A 105:3945-50 (2008)
 DOI:<a href=""https://doi.org/10.1073/pnas.0800135105"">10.1073/pnas.0800135105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2370860"">2370860</a> (NUP214)
 著者        von Lindern M, Poustka A, Lerach H, Grosveld G
 タイトル      The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.
 雑誌        Mol Cell Biol 10:4016-26 (1990)
 DOI:<a href=""https://doi.org/10.1128/mcb.10.8.4016-4026.1990"">10.1128/mcb.10.8.4016-4026.1990</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10637483"">10637483</a> (PICALM)
 著者        Carlson KM, Vignon C, Bohlander S, Martinez-Climent JA, Le Beau MM, Rowley JD
 タイトル      Identification and molecular characterization of CALM/AF10fusion products in T cell acute lymphoblastic leukemia and acute myeloid leukemia.
 雑誌        Leukemia 14:100-4 (2000)
 DOI:<a href=""https://doi.org/10.1038/sj.leu.2401629"">10.1038/sj.leu.2401629</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9122235"">9122235</a> (SH3GL1)
 著者        So CW, Caldas C, Liu MM, Chen SJ, Huang QH, Gu LJ, Sham MH, Wiedemann LM, Chan LC
 タイトル      EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia.
 雑誌        Proc Natl Acad Sci U S A 94:2563-8 (1997)
 DOI:<a href=""https://doi.org/10.1073/pnas.94.6.2563"">10.1073/pnas.94.6.2563</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19147845"">19147845</a> (TERT)
 著者        Calado RT, Regal JA, Hills M, Yewdell WT, Dalmazzo LF, Zago MA, Lansdorp PM, Hogge D, Chanock SJ, Estey EH, Falcao RP, Young NS
 タイトル      Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
 雑誌        Proc Natl Acad Sci U S A 106:1187-92 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0807057106"">10.1073/pnas.0807057106</a>"
H00004,慢性骨髄性白血病,,,"Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes. Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1. Additional chromosome translocations are also observed,such as t(3;21)(q26;q22), which generates AML1-EVI1.",がん,nt06276  Chronic myeloid leukemia,"BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
 MECOM (overexpression) [HSA:2122] [KO:K04462]
 RUNX1 (translocation) [HSA:861] [KO:K08367]
 CDKN2A [HSA:1029] [KO:K06621]
 TP53 [HSA:7157] [KO:K04451]
 RB1 [HSA:5925] [KO:K06618]",,,"1,3-Butadiene [CPD:C16450]
 Rubber industry","デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 メトトレキサート [DR:D00142]
 シクロホスファミド水和物 [DR:D00287]
 ブスルファン [DR:D00248]
 ラニムスチン [DR:D01760]
 メルカプトプリン水和物 [DR:D00161]
 シタラビン [DR:D00168]
 フルダラビンリン酸エステル [DR:D01907]
 ヒドロキシカルバミド [DR:D00341]
 マイトマイシンC [DR:D00208]
 ダウノルビシン塩酸塩 [DR:D01264]
 イダルビシン塩酸塩 [DR:D01747]
 ビンデシン硫酸塩 [DR:D01769]
 ミトキサントロン塩酸塩 [DR:D02166]
 イマチニブメシル酸塩 [DR:D01441]
 ダサチニブ水和物 [DR:D06414]
 ニロチニブ塩酸塩水和物 [DR:D06413]
 ボスチニブ水和物 [DR:D09728]
 ポナチニブ塩酸塩 [DR:D09951]
 アシミニブ塩酸塩 [DR:D11404]
 インターフェロンアルファ (NAMALWA) [DR:D03305]",,"ICD-11: 2A20.0
 ICD-10: C92.1
 MeSH: D015464
 OMIM: 608232","PMID:15719031 (BCR-ABL, MECOM, RUNX1, CDKN2A, TP53, RB1)
 著者        Ren R.
 タイトル      Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia.
 雑誌        Nat Rev Cancer 5:172-83 (2005)
 DOI:10.1038/nrc1567
 PMID:10403855
 著者        Faderl S, Talpaz M, Estrov Z, O'Brien S, Kurzrock R, Kantarjian HM.
 タイトル      The biology of chronic myeloid leukemia.
 雑誌        N Engl J Med 341:164-72 (1999)
 DOI:10.1056/NEJM199907153410306
 PMID:14982876
 著者        Calabretta B, Perrotti D.
 タイトル      The biology of CML blast crisis.
 雑誌        Blood 103:4010-22 (2004)
 DOI:10.1182/blood-2003-12-4111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00004"">H00004</a>",慢性骨髄性白血病,"Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes. Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1. Additional chromosome translocations are also observed,such as t(3;21)(q26;q22), which generates AML1-EVI1.","<a href=""https://www.kegg.jp/network/nt06276"">nt06276</a>  Chronic myeloid leukemia","BCR-ABL (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:613"">613</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25"">25</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08878"">K08878</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06619"">K06619</a>]
 MECOM (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2122"">2122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04462"">K04462</a>]
 RUNX1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 RB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]",,,"1,3-Butadiene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16450"">C16450</a>]
 Rubber industry","デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 メルカプトプリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00161"">D00161</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ヒドロキシカルバミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00341"">D00341</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ダウノルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01264"">D01264</a>]
 イダルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01747"">D01747</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 イマチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01441"">D01441</a>]
 ダサチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06414"">D06414</a>]
 ニロチニブ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06413"">D06413</a>]
 ボスチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09728"">D09728</a>]
 ポナチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09951"">D09951</a>]
 アシミニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11404"">D11404</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]",,"ICD-11: 2A20.0
 ICD-10: C92.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015464"">D015464</a>
 OMIM: <a href=""https://www.omim.org/entry/608232"">608232</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15719031"">15719031</a> (BCR-ABL, <a href=""https://pubmed.ncbi.nlm.nih.gov/MECOM,"">MECOM,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RUNX1,"">RUNX1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDKN2A,"">CDKN2A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RB1)"">RB1)</a>
 著者        Ren R.
 タイトル      Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia.
 雑誌        Nat Rev Cancer 5:172-83 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1567"">10.1038/nrc1567</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10403855"">10403855</a>
 著者        Faderl S, Talpaz M, Estrov Z, O'Brien S, Kurzrock R, Kantarjian HM.
 タイトル      The biology of chronic myeloid leukemia.
 雑誌        N Engl J Med 341:164-72 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199907153410306"">10.1056/NEJM199907153410306</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14982876"">14982876</a>
 著者        Calabretta B, Perrotti D.
 タイトル      The biology of CML blast crisis.
 雑誌        Blood 103:4010-22 (2004)
 DOI:<a href=""https://doi.org/10.1182/blood-2003-12-4111"">10.1182/blood-2003-12-4111</a>"
H00005,"慢性リンパ性白血病
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Chronic lymphocytic leukemia (CLL) is caused by the abnormal progressive accumulation of functionally incompetent monoclonal B-lymphocytes in blood, bone marrow, lymph nodes and spleen. It is the most common adult leukemia in Western countries, accounting for about 30% of total leukaemias. Worldwide there are approximately 180,000 new cases every year. A main focus in CLL research involved the evaluation of genetic features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best characterized genes are TP53 (also known as p53) and ATM, for which mutations and/or deletions have been described that predict rapid disease progression, resistance to conventional therapies and poor survival.",がん,,"Bcl-2 (overexpression) [HSA:596] [KO:K02161]
 p53 (mutation) [HSA:7157] [KO:K04451]
 ATM (germline and somatic mutation) [HSA:472] [KO:K04728]
 Fas (absent) [HSA:355] [KO:K04390]",,,"1,3-Butadiene [CPD:C16450]
 Ethylene oxide [CPD:C06548]
 Rubber industry","オファツムマブ [DR:D09314] (CD20陽性)
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 フィルグラスチム [DR:D03235]
 メトトレキサート [DR:D00142]
 シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ベンダムスチン塩酸塩 [DR:D07085]
 ベンダムスチン塩酸塩水和物 [DR:D11661]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 マイトマイシンC [DR:D00208]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 クラドリビン [DR:D01370]
 ミトキサントロン塩酸塩 [DR:D02166]
 イブルチニブ [DR:D10223]
 アカラブルチニブ [DR:D10893]
 リツキシマブ [DR:D02994] (CD20陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 L-アスパラギナーゼ [DR:D02997]
 ベネトクラクス [DR:D10679]
 アレムツズマブ [DR:D02802]
 イブリツモマブチウキセタン [DR:D04489] (CD20陽性)
 ソブゾキサン [DR:D01404]",,"ICD-11: 2A82.0
 ICD-10: C91.1
 MeSH: D015451","PMID:18059180 (description, gene, marker)
 著者        Chen J, McMillan NA
 タイトル      Molecular basis of pathogenesis, prognosis and therapy in chronic lymphocytic leukaemia.
 雑誌        Cancer Biol Ther 7:174-9 (2008)
 DOI:10.4161/cbt.7.2.5262
 PMID:17961188
 著者        Plass C, Byrd JC, Raval A, Tanner SM, de la Chapelle A
 タイトル      Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.
 雑誌        Br J Haematol 139:744-52 (2007)
 DOI:10.1111/j.1365-2141.2007.06875.x
 PMID:10687725 (gene, tumor type)
 著者        Bannerji R, Byrd JC.
 タイトル      Update on the biology of chronic lymphocytic leukemia.
 雑誌        Curr Opin Oncol 12:22-9 (2000)
 DOI:10.1097/00001622-200001000-00004
 PMID:11491097 (gene, tumor type)
 著者        Caligaris-Cappio F.
 タイトル      Biology of chronic lymphocytic leukemia.
 雑誌        Rev Clin Exp Hematol 4:5-21 (2000)
 DOI:10.1046/j.1468-0734.2000.00001.x
 PMID:9498905 (carcinogen)
 著者        Blair A, Kazerouni N.
 タイトル      Reactive chemicals and cancer.
 雑誌        Cancer Causes Control 8:473-90 (1997)
 DOI:10.1023/a:1018417623867
 PMID:16155477 (carcinogen)
 著者        Graff JJ, Sathiakumar N, Macaluso M, Maldonado G, Matthews R, Delzell E.
 タイトル      Chemical exposures in the synthetic rubber industry and lymphohematopoietic cancer mortality.
 雑誌        J Occup Environ Med 47:916-32 (2005)
 DOI:10.1097/01.jom.0000172866.16615.db
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:12464351 (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:10.1016/S1383-5742(02)00067-4
 PMID:16873420 (carcinogen)
 著者        Alder N, Fenty J, Warren F, Sutton AJ, Rushton L, Jones DR, Abrams KR.
 タイトル      Meta-analysis of mortality and cancer incidence among workers in the synthetic rubber-producing industry.
 雑誌        Am J Epidemiol 164:405-20 (2006)
 DOI:10.1093/aje/kwj252
 PMID:16299089 (carcinogen)
 著者        Sathiakumar N, Graff J, Macaluso M, Maldonado G, Matthews R, Delzell E.
 タイトル      An updated study of mortality among North American synthetic rubber industry workers.
 雑誌        Occup Environ Med 62:822-9 (2005)
 DOI:10.1136/oem.2004.018176","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00005"">H00005</a>","慢性リンパ性白血病
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Chronic lymphocytic leukemia (CLL) is caused by the abnormal progressive accumulation of functionally incompetent monoclonal B-lymphocytes in blood, bone marrow, lymph nodes and spleen. It is the most common adult leukemia in Western countries, accounting for about 30% of total leukaemias. Worldwide there are approximately 180,000 new cases every year. A main focus in CLL research involved the evaluation of genetic features related to somatic gene mutation or deletions that disrupt apoptosis and enhance tumor cell proliferation. The best characterized genes are TP53 (also known as p53) and ATM, for which mutations and/or deletions have been described that predict rapid disease progression, resistance to conventional therapies and poor survival.",,"Bcl-2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 ATM (germline and somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:472"">472</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04728"">K04728</a>]
 Fas (absent) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]",,,"1,3-Butadiene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16450"">C16450</a>]
 Ethylene oxide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06548"">C06548</a>]
 Rubber industry","オファツムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09314"">D09314</a>] (CD20陽性)
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 フィルグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03235"">D03235</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ベンダムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07085"">D07085</a>]
 ベンダムスチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11661"">D11661</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 クラドリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01370"">D01370</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 イブルチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10223"">D10223</a>]
 アカラブルチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10893"">D10893</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 ベネトクラクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10679"">D10679</a>]
 アレムツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02802"">D02802</a>]
 イブリツモマブチウキセタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04489"">D04489</a>] (CD20陽性)
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]",,"ICD-11: 2A82.0
 ICD-10: C91.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015451"">D015451</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18059180"">18059180</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Chen J, McMillan NA
 タイトル      Molecular basis of pathogenesis, prognosis and therapy in chronic lymphocytic leukaemia.
 雑誌        Cancer Biol Ther 7:174-9 (2008)
 DOI:<a href=""https://doi.org/10.4161/cbt.7.2.5262"">10.4161/cbt.7.2.5262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17961188"">17961188</a>
 著者        Plass C, Byrd JC, Raval A, Tanner SM, de la Chapelle A
 タイトル      Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.
 雑誌        Br J Haematol 139:744-52 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2007.06875.x"">10.1111/j.1365-2141.2007.06875.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10687725"">10687725</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Bannerji R, Byrd JC.
 タイトル      Update on the biology of chronic lymphocytic leukemia.
 雑誌        Curr Opin Oncol 12:22-9 (2000)
 DOI:<a href=""https://doi.org/10.1097/00001622-200001000-00004"">10.1097/00001622-200001000-00004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11491097"">11491097</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Caligaris-Cappio F.
 タイトル      Biology of chronic lymphocytic leukemia.
 雑誌        Rev Clin Exp Hematol 4:5-21 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1468-0734.2000.00001.x"">10.1046/j.1468-0734.2000.00001.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498905"">9498905</a> (carcinogen)
 著者        Blair A, Kazerouni N.
 タイトル      Reactive chemicals and cancer.
 雑誌        Cancer Causes Control 8:473-90 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018417623867"">1018417623867</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16155477"">16155477</a> (carcinogen)
 著者        Graff JJ, Sathiakumar N, Macaluso M, Maldonado G, Matthews R, Delzell E.
 タイトル      Chemical exposures in the synthetic rubber industry and lymphohematopoietic cancer mortality.
 雑誌        J Occup Environ Med 47:916-32 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.jom.0000172866.16615.db"">10.1097/01.jom.0000172866.16615.db</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464351"">12464351</a> (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1383-5742(02)00067-4"">10.1016/S1383-5742(02)00067-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16873420"">16873420</a> (carcinogen)
 著者        Alder N, Fenty J, Warren F, Sutton AJ, Rushton L, Jones DR, Abrams KR.
 タイトル      Meta-analysis of mortality and cancer incidence among workers in the synthetic rubber-producing industry.
 雑誌        Am J Epidemiol 164:405-20 (2006)
 DOI:<a href=""https://doi.org/10.1093/aje/kwj252"">10.1093/aje/kwj252</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16299089"">16299089</a> (carcinogen)
 著者        Sathiakumar N, Graff J, Macaluso M, Maldonado G, Matthews R, Delzell E.
 タイトル      An updated study of mortality among North American synthetic rubber industry workers.
 雑誌        Occup Environ Med 62:822-9 (2005)
 DOI:<a href=""https://doi.org/10.1136/oem.2004.018176"">10.1136/oem.2004.018176</a>"
H00006,"有毛細胞白血病;
 ヘアリー細胞白血病;
 ヘアリーセル白血病
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Hairy cell Leukemia (HCL) is a chronic lymphoproliferative disorder that is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all leukemia cases, with about 600 new cases diagnosed in the U.S. each year. With regard to genetic abnormalities of potential pathogenetic importance in HCL, only a few have been described. Mutations of p53 and Bcl-6 have been reported in about one-third of cases, but their functional significance is unclear. Over-expression of cyclin D1, an important cell cycle regulator, has been reported in cases of HCL as well as mantle cell lymphoma (MCL) and in a few cases of chronic lymphocytic leukemia among lymphoid malignancies.",がん,,"p53 (mutation) [HSA:7157] [KO:K04451]
 Bcl-6 (mutation) [HSA:604] [KO:K15618]
 Cyclin D1 (overexpression) [HSA:595] [KO:K04503]",,,,"クラドリビン [DR:D01370]
 リツキシマブ [DR:D02994] (CD20陽性)
 ペントスタチン [DR:D00155]
 インターフェロンアルファ (NAMALWA) [DR:D03305]",,"ICD-11: 2A82.2
 ICD-10: C91.4
 MeSH: D007943","PMID:12670461
 著者        Zuzel M, Cawley JC.
 タイトル      The biology of hairy cells.
 雑誌        Best Pract Res Clin Haematol 16:1-13 (2003)
 DOI:10.1016/S1521-6926(02)00082-8
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00006"">H00006</a>","有毛細胞白血病;
 ヘアリー細胞白血病;
 ヘアリーセル白血病
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Hairy cell Leukemia (HCL) is a chronic lymphoproliferative disorder that is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all leukemia cases, with about 600 new cases diagnosed in the U.S. each year. With regard to genetic abnormalities of potential pathogenetic importance in HCL, only a few have been described. Mutations of p53 and Bcl-6 have been reported in about one-third of cases, but their functional significance is unclear. Over-expression of cyclin D1, an important cell cycle regulator, has been reported in cases of HCL as well as mantle cell lymphoma (MCL) and in a few cases of chronic lymphocytic leukemia among lymphoid malignancies.",,"p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 Bcl-6 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:604"">604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15618"">K15618</a>]
 Cyclin D1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]",,,,"クラドリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01370"">D01370</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 ペントスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00155"">D00155</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]",,"ICD-11: 2A82.2
 ICD-10: C91.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007943"">D007943</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12670461"">12670461</a>
 著者        Zuzel M, Cawley JC.
 タイトル      The biology of hairy cells.
 雑誌        Best Pract Res Clin Haematol 16:1-13 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1521-6926(02)00082-8"">10.1016/S1521-6926(02)00082-8</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education"
H00007,ホジキンリンパ腫,,,"Hodgkin's lymphoma (HL) is one of the most frequent lymphomas in the Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of cases are classical HL, and 5% are nodular lymphocyte-predominant HL (NLPHL). A characteristic feature of HL is the rareness of the tumor cells, which are called Hodgkin's and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and histiocytic (L&H) cells in NLPHL. These cells represent only about 1% of the cellular infiltrate, while the vast majority of infiltrating cells are T lymphocytes, histiocytes, eosinophilic granulocytes and plasma cells. HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major pathogenetic mechanism in Hodgkin's lymphoma. The NF-{kappa}B activity in HRS cells is probably mediated by diverse mechanisms: receptor signalling through CD40, RANK, BCMA, and TACI, genomic REL amplification, destructive mutations in IKBA and IKBE. In HL pathogenesis associated with Epstein-Barr virus infection, the activation of NF-{kappa}B is induced by viral latent membrane protein 1 (LMP1).",がん,,"NFKBIA [HSA:4792] [KO:K04734]
 NFKBIE [HSA:4794] [KO:K05872]
 REL (amplification) [HSA:5966] [KO:K09254]
 FAS [HSA:355] [KO:K04390]
 KLHDC8B [HSA:200942]",Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079],,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 ダカルバジン [DR:D00288]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンクリスチン硫酸塩 [DR:D02197]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 ブレンツキシマブベドチン [DR:D09587] (CD30陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 プロカルバジン塩酸塩 [DR:D00478]
 L-アスパラギナーゼ [DR:D02997]
 ソブゾキサン [DR:D01404]",,"ICD-11: 2B30
 ICD-10: C81
 MeSH: D006689
 OMIM: 236000","PMID:15618006 (NFKBIA, NFKBIE, REL, FAS)
 著者        Kuppers R, Hansmann ML.
 タイトル      The Hodgkin and Reed/Sternberg cell.
 雑誌        Int J Biochem Cell Biol 37:511-7 (2005)
 DOI:10.1016/j.biocel.2003.10.025
 PMID:15803153 (NFKBIA, NFKBIE, REL, FAS)
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:10.1038/nrc1589
 PMID:19706467 (KLHDC8B)
 著者        Salipante SJ, Mealiffe ME, Wechsler J, Krem MM, Liu Y, Namkoong S, Bhagat G, Kirchhoff T, Offit K, Lynch H, Wiernik PH, Roshal M, McMaster ML, Tucker M, Fromm JR, Goldin LR, Horwitz MS
 タイトル      Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.
 雑誌        Proc Natl Acad Sci U S A 106:14920-5 (2009)
 DOI:10.1073/pnas.0904231106","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00007"">H00007</a>",ホジキンリンパ腫,"Hodgkin's lymphoma (HL) is one of the most frequent lymphomas in the Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of cases are classical HL, and 5% are nodular lymphocyte-predominant HL (NLPHL). A characteristic feature of HL is the rareness of the tumor cells, which are called Hodgkin's and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and histiocytic (L&H) cells in NLPHL. These cells represent only about 1% of the cellular infiltrate, while the vast majority of infiltrating cells are T lymphocytes, histiocytes, eosinophilic granulocytes and plasma cells. HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major pathogenetic mechanism in Hodgkin's lymphoma. The NF-{kappa}B activity in HRS cells is probably mediated by diverse mechanisms: receptor signalling through CD40, RANK, BCMA, and TACI, genomic REL amplification, destructive mutations in IKBA and IKBE. In HL pathogenesis associated with Epstein-Barr virus infection, the activation of NF-{kappa}B is induced by viral latent membrane protein 1 (LMP1).",,"NFKBIA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4792"">4792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04734"">K04734</a>]
 NFKBIE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4794"">4794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05872"">K05872</a>]
 REL (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5966"">5966</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09254"">K09254</a>]
 FAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]
 KLHDC8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200942"">200942</a>]","Human herpesvirus 4 (Epstein-Barr virus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40079"">T40079</a>]",,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 ダカルバジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00288"">D00288</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 ブレンツキシマブベドチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09587"">D09587</a>] (CD30陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 プロカルバジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00478"">D00478</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]",,"ICD-11: 2B30
 ICD-10: C81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006689"">D006689</a>
 OMIM: <a href=""https://www.omim.org/entry/236000"">236000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15618006"">15618006</a> (NFKBIA, <a href=""https://pubmed.ncbi.nlm.nih.gov/NFKBIE,"">NFKBIE,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/REL,"">REL,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FAS)"">FAS)</a>
 著者        Kuppers R, Hansmann ML.
 タイトル      The Hodgkin and Reed/Sternberg cell.
 雑誌        Int J Biochem Cell Biol 37:511-7 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2003.10.025"">10.1016/j.biocel.2003.10.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15803153"">15803153</a> (NFKBIA, <a href=""https://pubmed.ncbi.nlm.nih.gov/NFKBIE,"">NFKBIE,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/REL,"">REL,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FAS)"">FAS)</a>
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1589"">10.1038/nrc1589</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19706467"">19706467</a> (KLHDC8B)
 著者        Salipante SJ, Mealiffe ME, Wechsler J, Krem MM, Liu Y, Namkoong S, Bhagat G, Kirchhoff T, Offit K, Lynch H, Wiernik PH, Roshal M, McMaster ML, Tucker M, Fromm JR, Goldin LR, Horwitz MS
 タイトル      Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.
 雑誌        Proc Natl Acad Sci U S A 106:14920-5 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0904231106"">10.1073/pnas.0904231106</a>"
H00008,"バーキットリンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]
 中枢神経系原発悪性リンパ腫 [DS:H02424]",,,"Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young adults in Africa and some other geographical areas and carries Epstein-Barr virus (EBV) in more than 95% of cases. In contrast, sporadic BL (sBL) among adolescents in Europe and North America are mostly EBV-negative. A third type of BL is associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that contributes to lymphomagenesis through alterations in cell cycle regulation, cellular differentiation, apoptosis, cellular adhesion, and metabolism. Many BL carry point mutation in the p53 tumor suppressor gene or other defects in the p14ARF-MDM2-p53 pathway, and inactivation of the p16INK4a gene by promoter methylation or homozygous deletion. This indicates that disruption of both the pRb and p53 tumor suppressor pathways is critical for BL development.",がん,"nt06114  PI3K signaling (viruses)
 nt06119  JAK-STAT signaling (viruses)
 nt06120  Calcium signaling (viruses and bacteria)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06133  RLR signaling (viruses)
 nt06140  Transcription (viruses)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06165  Epstein-Barr virus (EBV)","MYC-IgH (translocation) [HSA:4609] [KO:K04377]
 p53 (mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]",,,"Azathioprine [CPD:C06837]
 Ethylene oxide [CPD:C06548]
 2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:C07557]
 病原体         Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
 Human immunodeficiency virus 1 (HIV-1) [GN:T40001]","ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 リツキシマブ [DR:D02994] (CD20陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 L-アスパラギナーゼ [DR:D02997]
 ソブゾキサン [DR:D01404]",,"ICD-11: 2A85.6
 ICD-10: C83.7
 MeSH: D002051","PMID:12191637 (gene, carcinogen, tumor type)
 著者        Lindstrom MS, Wiman KG.
 タイトル      Role of genetic and epigenetic changes in Burkitt lymphoma.
 雑誌        Semin Cancer Biol 12:381-7 (2002)
 DOI:10.1016/S1044-579X(02)00058-5
 PMID:15803153 (gene, carcinogen)
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:10.1038/nrc1589
 PMID:16062089 (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:10.1097/01.coc.0000168670.28659.8d
 PMID:15760280 (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:10.1146/annurev.publhealth.26.021304.144402
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:12464351 (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:10.1016/S1383-5742(02)00067-4
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00008"">H00008</a>","バーキットリンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]
 中枢神経系原発悪性リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02424"">H02424</a>]","Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young adults in Africa and some other geographical areas and carries Epstein-Barr virus (EBV) in more than 95% of cases. In contrast, sporadic BL (sBL) among adolescents in Europe and North America are mostly EBV-negative. A third type of BL is associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that contributes to lymphomagenesis through alterations in cell cycle regulation, cellular differentiation, apoptosis, cellular adhesion, and metabolism. Many BL carry point mutation in the p53 tumor suppressor gene or other defects in the p14ARF-MDM2-p53 pathway, and inactivation of the p16INK4a gene by promoter methylation or homozygous deletion. This indicates that disruption of both the pRb and p53 tumor suppressor pathways is critical for BL development.","<a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06119"">nt06119</a>  JAK-STAT signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06120"">nt06120</a>  Calcium signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06165"">nt06165</a>  Epstein-Barr virus (EBV)","MYC-IgH (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (promoter methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]",,,"Azathioprine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06837"">C06837</a>]
 Ethylene oxide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06548"">C06548</a>]
 2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07557"">C07557</a>]
 病原体         Human herpesvirus 4 (Epstein-Barr virus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40079"">T40079</a>]
 Human immunodeficiency virus 1 (HIV-1) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40001"">T40001</a>]","ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]",,"ICD-11: 2A85.6
 ICD-10: C83.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002051"">D002051</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12191637"">12191637</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Lindstrom MS, Wiman KG.
 タイトル      Role of genetic and epigenetic changes in Burkitt lymphoma.
 雑誌        Semin Cancer Biol 12:381-7 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1044-579X(02)00058-5"">10.1016/S1044-579X(02)00058-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15803153"">15803153</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1589"">10.1038/nrc1589</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16062089"">16062089</a> (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.coc.0000168670.28659.8d"">10.1097/01.coc.0000168670.28659.8d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15760280"">15760280</a> (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.publhealth.26.021304.144402"">10.1146/annurev.publhealth.26.021304.144402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464351"">12464351</a> (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1383-5742(02)00067-4"">10.1016/S1383-5742(02)00067-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>"
H00009,成人T細胞性白血病,,,"Adult T-cell leukemia (ATL) is one of the most aggressive hematologic malignancies and is caused by human T-cell leukemia virus type 1 (HTLV-1). The HTLV-1 Tax protein has been demonstrated to be the oncogenic protein of the virus. Tax may contribute to the process of carcinogenesis by a variety of mechanisms, including upregulating the expression of cellular genes involved in T cell growth and proliferation, including IL-2, IL-2R-alpha, and IL-15. However, ATL cells do not always need Tax expression in the later stage of leukemogenesis. Genetic and epigenetic changes should be implicated in such multistep leukemogenesis. Regarding genetic changes, mutation of p53, and deletion of p16 have been reported in ATL. Mutations of Fas gene are also reported in patients with ATL cells. However, such genetic changes were not frequently detected. In this regard, epigenetic change of p16/INK4A gene was more frequent in ATL cells, and accumulated according to the disease progression. This finding suggests that epigenetic change, including DNA methylation, plays an important role in the leukemogenesis of ATL.",がん,"nt06114  PI3K signaling (viruses)
 nt06118  TGFB signaling (viruses)
 nt06119  JAK-STAT signaling (viruses)
 nt06120  Calcium signaling (viruses and bacteria)
 nt06123  TNF signaling (viruses and bacteria)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06140  Transcription (viruses)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06160  Human T-cell leukemia virus 1 (HTLV-1)","p53 (mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621]
 Fas (mutation) [HSA:355] [KO:K04390]",Human T-lymphotropic virus 1 [GN:T40003],,,"モガムリズマブ [DR:D09761] (CCR4陽性)
 ペントスタチン [DR:D00155]
 レナリドミド水和物 [DR:D09813]
 ソブゾキサン [DR:D01404]
 ツシジノスタット [DR:D10993]",,"ICD-11: 2A90.5
 ICD-10: C91.5
 MeSH: D015459","PMID:12910250
 著者        Matsuoka M
 タイトル      Human T-cell leukemia virus type I and adult T-cell leukemia.
 雑誌        Oncogene 22:5131-40 (2003)
 DOI:10.1038/sj.onc.1206551
 PMID:14686488
 著者        Yasunaga J, Matsuoka M
 タイトル      Leukemogenesis of adult T-cell leukemia.
 雑誌        Int J Hematol 78:312-20 (2003)
 DOI:10.1007/BF02983555
 PMID:10190897 (gene, tumor type)
 著者        Maeda T, Yamada Y, Moriuchi R, Sugahara K, Tsuruda K, Joh T, Atogami S, Tsukasaki K, Tomonaga M, Kamihira S.
 タイトル      Fas gene mutation in the progression of adult T cell leukemia.
 雑誌        J Exp Med 189:1063-71 (1999)
 DOI:10.1084/jem.189.7.1063
 PMID:17387298 (carcinogen)
 著者        Yasunaga J, Matsuoka M.
 タイトル      Human T-cell leukemia virus type I induces adult T-cell leukemia: from clinical aspects to molecular mechanisms.
 雑誌        Cancer Control 14:133-40 (2007)
 DOI:10.1177/107327480701400206
 PMID:16362996 (carcinogen)
 著者        Jarrett RF.
 タイトル      Viruses and lymphoma/leukaemia.
 雑誌        J Pathol 208:176-86 (2006)
 DOI:10.1002/path.1905","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00009"">H00009</a>",成人T細胞性白血病,"Adult T-cell leukemia (ATL) is one of the most aggressive hematologic malignancies and is caused by human T-cell leukemia virus type 1 (HTLV-1). The HTLV-1 Tax protein has been demonstrated to be the oncogenic protein of the virus. Tax may contribute to the process of carcinogenesis by a variety of mechanisms, including upregulating the expression of cellular genes involved in T cell growth and proliferation, including IL-2, IL-2R-alpha, and IL-15. However, ATL cells do not always need Tax expression in the later stage of leukemogenesis. Genetic and epigenetic changes should be implicated in such multistep leukemogenesis. Regarding genetic changes, mutation of p53, and deletion of p16 have been reported in ATL. Mutations of Fas gene are also reported in patients with ATL cells. However, such genetic changes were not frequently detected. In this regard, epigenetic change of p16/INK4A gene was more frequent in ATL cells, and accumulated according to the disease progression. This finding suggests that epigenetic change, including DNA methylation, plays an important role in the leukemogenesis of ATL.","<a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06118"">nt06118</a>  TGFB signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06119"">nt06119</a>  JAK-STAT signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06120"">nt06120</a>  Calcium signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06160"">nt06160</a>  Human T-cell leukemia virus 1 (HTLV-1)","p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (deletion, promoter methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 Fas (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]","Human T-lymphotropic virus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40003"">T40003</a>]",,,"モガムリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09761"">D09761</a>] (CCR4陽性)
 ペントスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00155"">D00155</a>]
 レナリドミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09813"">D09813</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 ツシジノスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10993"">D10993</a>]",,"ICD-11: 2A90.5
 ICD-10: C91.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015459"">D015459</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12910250"">12910250</a>
 著者        Matsuoka M
 タイトル      Human T-cell leukemia virus type I and adult T-cell leukemia.
 雑誌        Oncogene 22:5131-40 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1206551"">10.1038/sj.onc.1206551</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14686488"">14686488</a>
 著者        Yasunaga J, Matsuoka M
 タイトル      Leukemogenesis of adult T-cell leukemia.
 雑誌        Int J Hematol 78:312-20 (2003)
 DOI:<a href=""https://doi.org/10.1007/BF02983555"">10.1007/BF02983555</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10190897"">10190897</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Maeda T, Yamada Y, Moriuchi R, Sugahara K, Tsuruda K, Joh T, Atogami S, Tsukasaki K, Tomonaga M, Kamihira S.
 タイトル      Fas gene mutation in the progression of adult T cell leukemia.
 雑誌        J Exp Med 189:1063-71 (1999)
 DOI:<a href=""https://doi.org/10.1084/jem.189.7.1063"">10.1084/jem.189.7.1063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17387298"">17387298</a> (carcinogen)
 著者        Yasunaga J, Matsuoka M.
 タイトル      Human T-cell leukemia virus type I induces adult T-cell leukemia: from clinical aspects to molecular mechanisms.
 雑誌        Cancer Control 14:133-40 (2007)
 DOI:<a href=""https://doi.org/10.1177/107327480701400206"">10.1177/107327480701400206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16362996"">16362996</a> (carcinogen)
 著者        Jarrett RF.
 タイトル      Viruses and lymphoma/leukaemia.
 雑誌        J Pathol 208:176-86 (2006)
 DOI:<a href=""https://doi.org/10.1002/path.1905"">10.1002/path.1905</a>"
H00010,多発性骨髄腫,,,"Multiple myeloma is a disorder in which malignant plasma cells accumulate, generally derived from one clone in the bone marrow. Intricate interactions occur between the bone-marrow microenvironment and the myeloma cells, frequently causing bone destruction, which in turn stimulates tumor growth. Often it is preceded by a premalignant tumor called monoclonal gammopathy of undetermined significance (MGUS). Multiple oncogenic events have been identified that have contributed to the pathogenesis of myeloma. Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumor suppressor gene. Additional molecular events include epigenetic changes and activation of oncogenes (mutations of N-RAS and K-RAS, and changes in c-MYC), which are usually associated with disease progression.",がん,,"CCND1-IgH (translocation) [HSA:595] [KO:K04503]
 CCND3-IgH (translocation) [HSA:896] [KO:K10152]
 IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094]
 IgH-MMSET (translocation) [HSA:7468] [KO:K11424]
 IgH-MAF (translocation) [HSA:4094] [KO:K09035]
 N-ras (activating mutation) [HSA:4893] [KO:K07828]
 K-ras (activating mutation) [HSA:3845] [KO:K07827]
 c-MYC (dysregulation) [HSA:4609] [KO:K04377]
 p53 (mutation) [HSA:7157] [KO:K04451]",,,,"サリドマイド [DR:D00754]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 プレドニゾロン [DR:D00472]
 ゾレドロン酸水和物 [DR:D01968]
 デノスマブ [DR:D03684]
 シクロホスファミド水和物 [DR:D00287]
 メルファラン [DR:D00369]
 ラニムスチン [DR:D01760]
 フルダラビンリン酸エステル [DR:D01907]
 ドキソルビシン塩酸塩 [DR:D01275]
 ビンクリスチン硫酸塩 [DR:D02197]
 ダラツムマブ [DR:D10777]
 イサツキシマブ [DR:D11050]
 エロツズマブ [DR:D09337]
 ボルテゾミブ [DR:D03150]
 ボルテゾミブ水和物 [DR:D12311]
 カルフィルゾミブ [DR:D08880]
 イキサゾミブクエン酸エステル [DR:D10131]
 パノビノスタット乳酸塩 [DR:D10019]
 レナリドミド水和物 [DR:D09813]
 ポマリドミド [DR:D08976]
 ダラツムマブ・ボルヒアルロニダーゼアルファ [DR:D11967]
 インターフェロンアルファ (NAMALWA) [DR:D03305]",,"ICD-11: 2A83.1
 ICD-10: C90.0
 MeSH: D009101","PMID:15031034
 著者        Sirohi B, Powles R
 タイトル      Multiple myeloma.
 雑誌        Lancet 363:875-87 (2004)
 DOI:10.1016/S0140-6736(04)15736-X
 PMID:12965277
 著者        Seidl S, Kaufmann H, Drach J
 タイトル      New insights into the pathophysiology of multiple myeloma.
 雑誌        Lancet Oncol 4:557-64 (2003)
 DOI:10.1016/S1470-2045(03)01195-1
 PMID:12358886
 著者        Joy Ho P
 タイトル      Chromosomal and genetic abnormalities in myeloma.
 雑誌        Clin Lab Haematol 24:259-69 (2002)
 DOI:10.1046/j.1365-2257.2002.00456.x
 PMID:16155016 (gene, tumor type)
 著者        Bergsagel PL, Kuehl WM.
 タイトル      Molecular pathogenesis and a consequent classification of multiple myeloma.
 雑誌        J Clin Oncol 23:6333-8 (2005)
 DOI:10.1200/JCO.2005.05.021
 PMID:12370633
 著者        Podczaski E, Cain J.
 タイトル      Multiple myeloma.
 雑誌        Clin Obstet Gynecol 45:928-38 (2002)
 DOI:10.1097/00003081-200209000-00038
 PMID:9414264
 著者        Hallek M, Bergsagel PL, Anderson KC.
 タイトル      Multiple myeloma: increasing evidence for a multistep transformation process.
 雑誌        Blood 91:3-21 (1998)
 PMID:11607813
 著者        Bergsagel PL, Kuehl WM
 タイトル      Chromosome translocations in multiple myeloma.
 雑誌        Oncogene 20:5611-22 (2001)
 DOI:10.1038/sj.onc.1204641","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00010"">H00010</a>",多発性骨髄腫,"Multiple myeloma is a disorder in which malignant plasma cells accumulate, generally derived from one clone in the bone marrow. Intricate interactions occur between the bone-marrow microenvironment and the myeloma cells, frequently causing bone destruction, which in turn stimulates tumor growth. Often it is preceded by a premalignant tumor called monoclonal gammopathy of undetermined significance (MGUS). Multiple oncogenic events have been identified that have contributed to the pathogenesis of myeloma. Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumor suppressor gene. Additional molecular events include epigenetic changes and activation of oncogenes (mutations of N-RAS and K-RAS, and changes in c-MYC), which are usually associated with disease progression.",,"CCND1-IgH (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 CCND3-IgH (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:896"">896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10152"">K10152</a>]
 IgH-FGFR3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]
 IgH-MMSET (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7468"">7468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11424"">K11424</a>]
 IgH-MAF (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4094"">4094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09035"">K09035</a>]
 N-ras (activating mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 K-ras (activating mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 c-MYC (dysregulation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,,"サリドマイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00754"">D00754</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 ゾレドロン酸水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01968"">D01968</a>]
 デノスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03684"">D03684</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ダラツムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10777"">D10777</a>]
 イサツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11050"">D11050</a>]
 エロツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09337"">D09337</a>]
 ボルテゾミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03150"">D03150</a>]
 ボルテゾミブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12311"">D12311</a>]
 カルフィルゾミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08880"">D08880</a>]
 イキサゾミブクエン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10131"">D10131</a>]
 パノビノスタット乳酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10019"">D10019</a>]
 レナリドミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09813"">D09813</a>]
 ポマリドミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08976"">D08976</a>]
 ダラツムマブ・ボルヒアルロニダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11967"">D11967</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]",,"ICD-11: 2A83.1
 ICD-10: C90.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009101"">D009101</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15031034"">15031034</a>
 著者        Sirohi B, Powles R
 タイトル      Multiple myeloma.
 雑誌        Lancet 363:875-87 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(04)15736-X"">10.1016/S0140-6736(04)15736-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12965277"">12965277</a>
 著者        Seidl S, Kaufmann H, Drach J
 タイトル      New insights into the pathophysiology of multiple myeloma.
 雑誌        Lancet Oncol 4:557-64 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(03)01195-1"">10.1016/S1470-2045(03)01195-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12358886"">12358886</a>
 著者        Joy Ho P
 タイトル      Chromosomal and genetic abnormalities in myeloma.
 雑誌        Clin Lab Haematol 24:259-69 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2257.2002.00456.x"">10.1046/j.1365-2257.2002.00456.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16155016"">16155016</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Bergsagel PL, Kuehl WM.
 タイトル      Molecular pathogenesis and a consequent classification of multiple myeloma.
 雑誌        J Clin Oncol 23:6333-8 (2005)
 DOI:<a href=""https://doi.org/10.1200/JCO.2005.05.021"">10.1200/JCO.2005.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12370633"">12370633</a>
 著者        Podczaski E, Cain J.
 タイトル      Multiple myeloma.
 雑誌        Clin Obstet Gynecol 45:928-38 (2002)
 DOI:<a href=""https://doi.org/10.1097/00003081-200209000-00038"">10.1097/00003081-200209000-00038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9414264"">9414264</a>
 著者        Hallek M, Bergsagel PL, Anderson KC.
 タイトル      Multiple myeloma: increasing evidence for a multistep transformation process.
 雑誌        Blood 91:3-21 (1998)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11607813"">11607813</a>
 著者        Bergsagel PL, Kuehl WM
 タイトル      Chromosome translocations in multiple myeloma.
 雑誌        Oncogene 20:5611-22 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1204641"">10.1038/sj.onc.1204641</a>"
H00011,"リンパ形質細胞性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Lymphoplasmacytic lymphoma (LPL)/Waldenstrom's macroglobulinemia (WM) is a non-Hodgkin lymphoma (NHL) subtype characterized by small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually involving bone marrow, lymph nodes, and the spleen. WM can be distinguished clinically from LPL on the basis of a detectable monoclonal (IgM) immunoglobulin spike in serum. In the general population, LPL/WM is a very rare disease, accounting for only 1%-2% of all hematologic malignancies, reflected in an incidence rate of 3-4 cases per million people per year. The t(9;14)(p13;q32) is present in near 50% of cases of LPL. This chromosomal translocation involves a junction between 9p13 and the switch micro region of the Ig heavy chain locus on 14q32. The 9p13 breakpoint contains the PAX-5 gene which encodes a B-cell specific transcription factor involved in the control of B-cell proliferation and differentiation. The translocation causes the juxtaposition of the PAX-5 gene to the IgH locus in the opposite direction of transcription, resulting in an 11-fold over-expression of PAX-5 mRNA.",がん,,Pax5-IgH (translocation) [HSA:5079] [KO:K09383],,,"Azathioprine [CPD:C06837]
 Ethylene oxide [CPD:C06548]
 2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:C07557]","ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ベンダムスチン塩酸塩 [DR:D07085]
 ベンダムスチン塩酸塩水和物 [DR:D11661]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 クラドリビン [DR:D01370]
 ミトキサントロン塩酸塩 [DR:D02166]
 リツキシマブ [DR:D02994] (CD20陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ボルテゾミブ [DR:D03150]
 ボルテゾミブ水和物 [DR:D12311]
 L-アスパラギナーゼ [DR:D02997]
 イブリツモマブチウキセタン [DR:D04489] (CD20陽性)
 ソブゾキサン [DR:D01404]
 チラブルチニブ塩酸塩 [DR:D11070]",,"ICD-11: 2A85.4
 ICD-10: C83.8 C88.0","PMID:19362964
 著者        Kristinsson SY, Koshiol J, Goldin LR, Bjorkholm M, Turesson I, Gridley G, McMaster ML, Landgren O
 タイトル      Genetics- and immune-related factors in the pathogenesis of lymphoplasmacytic lymphoma/ Waldenstrom's macroglobulinemia.
 雑誌        Clin Lymphoma Myeloma 9:23-6 (2009)
 DOI:10.3816/CLM.2009.n.004
 PMID:18499469 (description, gene, carcinogen)
 著者        Vitolo U, Ferreri AJ, Montoto S
 タイトル      Lymphoplasmacytic lymphoma-Waldenstrom's macroglobulinemia.
 雑誌        Crit Rev Oncol Hematol 67:172-85 (2008)
 DOI:10.1016/j.critrevonc.2008.03.008
 PMID:11232108 (gene, tumor type)
 著者        Arber DA.
 タイトル      Molecular diagnostic approach to non-Hodgkin's lymphoma.
 雑誌        J Mol Diagn 2:178-90 (2000)
 DOI:10.1016/S1525-1578(10)60636-8
 PMID:15803153
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:10.1038/nrc1589
 PMID:10350329
 著者        Iida S, Rao PH, Ueda R, Chaganti RS, Dalla-Favera R
 タイトル      Chromosomal rearrangement of the PAX-5 locus in lymphoplasmacytic lymphoma with t(9;14)(p13;q32).
 雑誌        Leuk Lymphoma 34:25-33 (1999)
 DOI:10.3109/10428199909083377
 PMID:10784387
 著者        Ohno H, Ueda C, Akasaka T
 タイトル      The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
 雑誌        Leuk Lymphoma 36:435-45 (2000)
 DOI:10.3109/10428190009148390
 PMID:16062089 (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:10.1097/01.coc.0000168670.28659.8d
 PMID:12464351 (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:10.1016/S1383-5742(02)00067-4
 PMID:15760280 (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:10.1146/annurev.publhealth.26.021304.144402
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00011"">H00011</a>","リンパ形質細胞性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Lymphoplasmacytic lymphoma (LPL)/Waldenstrom's macroglobulinemia (WM) is a non-Hodgkin lymphoma (NHL) subtype characterized by small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually involving bone marrow, lymph nodes, and the spleen. WM can be distinguished clinically from LPL on the basis of a detectable monoclonal (IgM) immunoglobulin spike in serum. In the general population, LPL/WM is a very rare disease, accounting for only 1%-2% of all hematologic malignancies, reflected in an incidence rate of 3-4 cases per million people per year. The t(9;14)(p13;q32) is present in near 50% of cases of LPL. This chromosomal translocation involves a junction between 9p13 and the switch micro region of the Ig heavy chain locus on 14q32. The 9p13 breakpoint contains the PAX-5 gene which encodes a B-cell specific transcription factor involved in the control of B-cell proliferation and differentiation. The translocation causes the juxtaposition of the PAX-5 gene to the IgH locus in the opposite direction of transcription, resulting in an 11-fold over-expression of PAX-5 mRNA.",,"Pax5-IgH (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5079"">5079</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09383"">K09383</a>]",,,"Azathioprine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06837"">C06837</a>]
 Ethylene oxide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06548"">C06548</a>]
 2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07557"">C07557</a>]","ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ベンダムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07085"">D07085</a>]
 ベンダムスチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11661"">D11661</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 クラドリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01370"">D01370</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ボルテゾミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03150"">D03150</a>]
 ボルテゾミブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12311"">D12311</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 イブリツモマブチウキセタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04489"">D04489</a>] (CD20陽性)
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 チラブルチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11070"">D11070</a>]",,"ICD-11: 2A85.4
 ICD-10: C83.8 C88.0","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19362964"">19362964</a>
 著者        Kristinsson SY, Koshiol J, Goldin LR, Bjorkholm M, Turesson I, Gridley G, McMaster ML, Landgren O
 タイトル      Genetics- and immune-related factors in the pathogenesis of lymphoplasmacytic lymphoma/ Waldenstrom's macroglobulinemia.
 雑誌        Clin Lymphoma Myeloma 9:23-6 (2009)
 DOI:<a href=""https://doi.org/10.3816/CLM.2009.n.004"">10.3816/CLM.2009.n.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18499469"">18499469</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Vitolo U, Ferreri AJ, Montoto S
 タイトル      Lymphoplasmacytic lymphoma-Waldenstrom's macroglobulinemia.
 雑誌        Crit Rev Oncol Hematol 67:172-85 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2008.03.008"">10.1016/j.critrevonc.2008.03.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11232108"">11232108</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Arber DA.
 タイトル      Molecular diagnostic approach to non-Hodgkin's lymphoma.
 雑誌        J Mol Diagn 2:178-90 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60636-8"">10.1016/S1525-1578(10)60636-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15803153"">15803153</a>
 著者        Kuppers R.
 タイトル      Mechanisms of B-cell lymphoma pathogenesis.
 雑誌        Nat Rev Cancer 5:251-62 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1589"">10.1038/nrc1589</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10350329"">10350329</a>
 著者        Iida S, Rao PH, Ueda R, Chaganti RS, Dalla-Favera R
 タイトル      Chromosomal rearrangement of the PAX-5 locus in lymphoplasmacytic lymphoma with t(9;14)(p13;q32).
 雑誌        Leuk Lymphoma 34:25-33 (1999)
 DOI:<a href=""https://doi.org/10.3109/10428199909083377"">10.3109/10428199909083377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10784387"">10784387</a>
 著者        Ohno H, Ueda C, Akasaka T
 タイトル      The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
 雑誌        Leuk Lymphoma 36:435-45 (2000)
 DOI:<a href=""https://doi.org/10.3109/10428190009148390"">10.3109/10428190009148390</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16062089"">16062089</a> (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.coc.0000168670.28659.8d"">10.1097/01.coc.0000168670.28659.8d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464351"">12464351</a> (carcinogen)
 著者        Kolman A, Chovanec M, Osterman-Golkar S.
 タイトル      Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
 雑誌        Mutat Res 512:173-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1383-5742(02)00067-4"">10.1016/S1383-5742(02)00067-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15760280"">15760280</a> (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.publhealth.26.021304.144402"">10.1146/annurev.publhealth.26.021304.144402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>"
H00012,真性赤血球増加症,,,"Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological diseases that share clinical and biological similarities, such as a hematopoietic stem cell origin: PV, essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myeloid leukemia (CML), some types of hypereosinophilic syndrome (HES), systemic mast cell disease (SMD) and other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker for the disease.",がん,,JAK2 (mutation) [HSA:3717] [KO:K04447],,,,"シクロホスファミド水和物 [DR:D00287]
 ブスルファン [DR:D00248]
 ラニムスチン [DR:D01760]
 ヒドロキシカルバミド [DR:D00341]
 ルキソリチニブリン酸塩 [DR:D09960]",,"ICD-11: 2A20.4
 ICD-10: D45
 MeSH: D011087","PMID:16879013 (gene, tumor type)
 著者        Cao M, Olsen RJ, Zu Y.
 タイトル      Polycythemia vera: new clinicopathologic perspectives.
 雑誌        Arch Pathol Lab Med 130:1126-32 (2006)
 DOI:10.1043/1543-2165(2006)130[1126:PV]2.0.CO;2
 PMID:16781479
 著者        Chen G, Prchal JT.
 タイトル      Polycythemia vera and its molecular basis: an update.
 雑誌        Best Pract Res Clin Haematol 19:387-97 (2006)
 DOI:10.1016/j.beha.2005.07.003
 PMID:17131059
 著者        Delhommeau F, Pisani DF, James C, Casadevall N, Constantinescu S, Vainchenker W.
 タイトル      Oncogenic mechanisms in myeloproliferative disorders.
 雑誌        Cell Mol Life Sci 63:2939-53 (2006)
 DOI:10.1007/s00018-006-6272-7
 PMID:16919893 (marker)
 著者        Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W.
 タイトル      Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF).
 雑誌        Pathol Biol (Paris) 55:92-104 (2007)
 DOI:10.1016/j.patbio.2006.06.002
 PMID:15217712 (marker)
 著者        Klippel S, Pahl HL.
 タイトル      Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders.
 雑誌        Pathol Biol (Paris) 52:267-74 (2004)
 DOI:10.1016/j.patbio.2003.09.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00012"">H00012</a>",真性赤血球増加症,"Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological diseases that share clinical and biological similarities, such as a hematopoietic stem cell origin: PV, essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myeloid leukemia (CML), some types of hypereosinophilic syndrome (HES), systemic mast cell disease (SMD) and other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker for the disease.",,"JAK2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 ヒドロキシカルバミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00341"">D00341</a>]
 ルキソリチニブリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09960"">D09960</a>]",,"ICD-11: 2A20.4
 ICD-10: D45
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011087"">D011087</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16879013"">16879013</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Cao M, Olsen RJ, Zu Y.
 タイトル      Polycythemia vera: new clinicopathologic perspectives.
 雑誌        Arch Pathol Lab Med 130:1126-32 (2006)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2006)130[1126:"">10.1043/1543-2165(2006)130[1126:</a><a href=""https://doi.org/PV]2.0.CO;2"">PV]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16781479"">16781479</a>
 著者        Chen G, Prchal JT.
 タイトル      Polycythemia vera and its molecular basis: an update.
 雑誌        Best Pract Res Clin Haematol 19:387-97 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.beha.2005.07.003"">10.1016/j.beha.2005.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17131059"">17131059</a>
 著者        Delhommeau F, Pisani DF, James C, Casadevall N, Constantinescu S, Vainchenker W.
 タイトル      Oncogenic mechanisms in myeloproliferative disorders.
 雑誌        Cell Mol Life Sci 63:2939-53 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00018-006-6272-7"">10.1007/s00018-006-6272-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16919893"">16919893</a> (marker)
 著者        Michiels JJ, Bernema Z, Van Bockstaele D, De Raeve H, Schroyens W.
 タイトル      Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF).
 雑誌        Pathol Biol (Paris) 55:92-104 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.patbio.2006.06.002"">10.1016/j.patbio.2006.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15217712"">15217712</a> (marker)
 著者        Klippel S, Pahl HL.
 タイトル      Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders.
 雑誌        Pathol Biol (Paris) 52:267-74 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.patbio.2003.09.019"">10.1016/j.patbio.2003.09.019</a>"
H00013,小細胞肺癌,,,"Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced apoptosis. The retinoblastoma gene RB1 encodes a nuclear phosphoprotein that helps to regulate cell-cycle progression. The fragile histidine triad gene FHIT encodes the enzyme diadenosine triphosphate hydrolase, which is thought to have an indirect role in proapoptosis and cell-cycle control.",がん,nt06267  Small cell lung cancer,"MYC (amplification) [HSA:4609] [KO:K04377]
 BCL2 (overexpression) [HSA:596] [KO:K02161]
 FHIT [HSA:2272] [KO:K01522]
 TP53 [HSA:7157] [KO:K04451]
 RB1 [HSA:5925] [KO:K06618]
 PTEN [HSA:5728] [KO:K01110]
 PPP2R1B [HSA:5519] [KO:K03456]",,,"Arsenic and arsenic compounds [CPD:C06269]
 Asbestos [CPD:C16442]
 Beryllium and beryllium compounds [CPD:C16460]
 Bis(chloromethyl)ether and chloromethyl methyl ether (technical-grade)
 N'-Nitrosonornicotine (NNN) and 4-(N-Nitrosomethylamino)-1-(3-pyridyl)-1-butanone(NNK) [CPD:C16452 C16453]
 Radon-222 and its decay products
 Silica, crystalline (inhaled in the form of quartz orcristobalite from occupational sources) [CPD:C16459]
 Tobacco smoking and tobacco smoke
 *Aluminium production
 *Benzo[a]pyrene [CPD:C07535]
 *Cadmium and cadmium compounds
 *Chimney sweeping
 *Coal gasification
 *Coal-tar pitches [CPD:C16451]
 *Coal-tars
 *Coke production
 *Furniture and cabinet making
 *Haematite mining (underground) with exposure to radon
 *Household combustion of coal, indoor emissions from
 *Involuntary smoking (exposure to secondhand or environmental tobacco smoke)
 *Iron and steel founding
 *Mineral oils, untreated and mildly treated
 *Painter (occupational exposure as a)
 *Paving and roofing with coal-tar pitch
 *Shale-oils [CPD:C16458]
 *Soots
 *Strong-inorganic-acid mists containing sulfuric acid
 *Talc containing asbestiform fibres
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin
 *X- and gamma-radiation
 *: Although this is a risk factor for lung cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ニムスチン塩酸塩 [DR:D01059]
 フルオロウラシル [DR:D00584]
 シタラビン [DR:D00168]
 テガフール・ウラシル [DR:D02131]
 マイトマイシンC [DR:D00208]
 ブレオマイシン塩酸塩 [DR:D03229]
 ドキソルビシン塩酸塩 [DR:D01275]
 アクラルビシン塩酸塩 [DR:D01911]
 アムルビシン塩酸塩 [DR:D07100]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ノギテカン塩酸塩 [DR:D02168]
 イリノテカン塩酸塩水和物 [DR:D01061]
 デュルバルマブ [DR:D10808]
 アテゾリズマブ [DR:D10773]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ネダプラチン [DR:D01416]
 タラポルフィンナトリウム [DR:D01985]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2C25.1
 ICD-10: C34
 MeSH: D055752","PMID:12741677
 著者        Yokota J, Nishioka M, Tani M, Kohno T.
 タイトル      Genetic alterations responsible for metastatic phenotypes of lung cancer cells.
 雑誌        Clin Exp Metastasis 20:189-93 (2003)
 DOI:10.1023/a:1022978932215
 PMID:12711111
 著者        Sanchez-Cespedes M.
 タイトル      Dissecting the genetic alterations involved in lung carcinogenesis.
 雑誌        Lung Cancer 40:111-21 (2003)
 DOI:10.1016/S0169-5002(03)00033-3
 PMID:12407699
 著者        Mitsuuchi Y, Testa JR.
 タイトル      Cytogenetics and molecular genetics of lung cancer.
 雑誌        Am J Med Genet 115:183-8 (2002)
 DOI:10.1002/ajmg.10692
 PMID:16112428
 著者        Panani AD, Roussos C.
 タイトル      Cytogenetic and molecular aspects of lung cancer.
 雑誌        Cancer Lett 239:1-9 (2006)
 DOI:10.1016/j.canlet.2005.06.030
 PMID:2983887 (MYC amplification)
 著者        Saksela K, Bergh J, Lehto VP, Nilsson K, Alitalo K
 タイトル      Amplification of the c-myc oncogene in a subpopulation of human small cell lung cancer.
 雑誌        Cancer Res 45:1823-7 (1985)
 PMID:17426248 (BCL2 overexpression)
 著者        Olejniczak ET, Van Sant C, Anderson MG, Wang G, Tahir SK, Sauter G, Lesniewski R, Semizarov D
 タイトル      Integrative genomic analysis of small-cell lung carcinoma reveals correlates of sensitivity to bcl-2 antagonists and uncovers novel chromosomal gains.
 雑誌        Mol Cancer Res 5:331-9 (2007)
 DOI:10.1158/1541-7786.MCR-06-0367
 PMID:8620533 (FHIT)
 著者        Sozzi G, Veronese ML, Negrini M, Baffa R, Cotticelli MG, Inoue H, Tornielli S, Pilotti S, De Gregorio L, Pastorino U, Pierotti MA, Ohta M, Huebner K, Croce CM
 タイトル      The FHIT gene 3p14.2 is abnormal in lung cancer.
 雑誌        Cell 85:17-26 (1996)
 DOI:10.1016/s0092-8674(00)81078-8
 PMID:2554494 (TP53)
 著者        Takahashi T, Nau MM, Chiba I, Birrer MJ, Rosenberg RK, Vinocour M, Levitt M, Pass H, Gazdar AF, Minna JD
 タイトル      p53: a frequent target for genetic abnormalities in lung cancer.
 雑誌        Science 246:491-4 (1989)
 DOI:10.1126/science.2554494
 PMID:2594029 (RB1)
 著者        Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP
 タイトル      Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
 雑誌        N Engl J Med 321:1689-95 (1989)
 DOI:10.1056/NEJM198912213212501
 PMID:9696041 (PTEN)
 著者        Yokomizo A, Tindall DJ, Drabkin H, Gemmill R, Franklin W, Yang P, Sugio K, Smith DI, Liu W
 タイトル      PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers.
 雑誌        Oncogene 17:475-9 (1998)
 DOI:10.1038/sj.onc.1201956
 PMID:9765152 (PPP2R1B)
 著者        Wang SS, Esplin ED, Li JL, Huang L, Gazdar A, Minna J, Evans GA
 タイトル      Alterations of the PPP2R1B gene in human lung and colon cancer.
 雑誌        Science 282:284-7 (1998)
 DOI:10.1126/science.282.5387.284","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00013"">H00013</a>",小細胞肺癌,"Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced apoptosis. The retinoblastoma gene RB1 encodes a nuclear phosphoprotein that helps to regulate cell-cycle progression. The fragile histidine triad gene FHIT encodes the enzyme diadenosine triphosphate hydrolase, which is thought to have an indirect role in proapoptosis and cell-cycle control.","<a href=""https://www.kegg.jp/network/nt06267"">nt06267</a>  Small cell lung cancer","MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 BCL2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 FHIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2272"">2272</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01522"">K01522</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 RB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 PPP2R1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5519"">5519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03456"">K03456</a>]",,,"Arsenic and arsenic compounds [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06269"">C06269</a>]
 Asbestos [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16442"">C16442</a>]
 Beryllium and beryllium compounds [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16460"">C16460</a>]
 Bis(chloromethyl)ether and chloromethyl methyl ether (technical-grade)
 N'-Nitrosonornicotine (NNN) and 4-(N-Nitrosomethylamino)-1-(3-pyridyl)-1-butanone(NNK) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16452"">C16452</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16453"">C16453</a>]
 Radon-222 and its decay products
 Silica, crystalline (inhaled in the form of quartz orcristobalite from occupational sources) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16459"">C16459</a>]
 Tobacco smoking and tobacco smoke
 *Aluminium production
 *Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 *Cadmium and cadmium compounds
 *Chimney sweeping
 *Coal gasification
 *Coal-tar pitches [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16451"">C16451</a>]
 *Coal-tars
 *Coke production
 *Furniture and cabinet making
 *Haematite mining (underground) with exposure to radon
 *Household combustion of coal, indoor emissions from
 *Involuntary smoking (exposure to secondhand or environmental tobacco smoke)
 *Iron and steel founding
 *Mineral oils, untreated and mildly treated
 *Painter (occupational exposure as a)
 *Paving and roofing with coal-tar pitch
 *Shale-oils [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16458"">C16458</a>]
 *Soots
 *Strong-inorganic-acid mists containing sulfuric acid
 *Talc containing asbestiform fibres
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin
 *X- and gamma-radiation
 *: Although this is a risk factor for lung cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 アムルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07100"">D07100</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ノギテカン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02168"">D02168</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 デュルバルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10808"">D10808</a>]
 アテゾリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10773"">D10773</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 タラポルフィンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01985"">D01985</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2C25.1
 ICD-10: C34
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055752"">D055752</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12741677"">12741677</a>
 著者        Yokota J, Nishioka M, Tani M, Kohno T.
 タイトル      Genetic alterations responsible for metastatic phenotypes of lung cancer cells.
 雑誌        Clin Exp Metastasis 20:189-93 (2003)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1022978932215"">1022978932215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12711111"">12711111</a>
 著者        Sanchez-Cespedes M.
 タイトル      Dissecting the genetic alterations involved in lung carcinogenesis.
 雑誌        Lung Cancer 40:111-21 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0169-5002(03)00033-3"">10.1016/S0169-5002(03)00033-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12407699"">12407699</a>
 著者        Mitsuuchi Y, Testa JR.
 タイトル      Cytogenetics and molecular genetics of lung cancer.
 雑誌        Am J Med Genet 115:183-8 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10692"">10.1002/ajmg.10692</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16112428"">16112428</a>
 著者        Panani AD, Roussos C.
 タイトル      Cytogenetic and molecular aspects of lung cancer.
 雑誌        Cancer Lett 239:1-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2005.06.030"">10.1016/j.canlet.2005.06.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2983887"">2983887</a> (MYC <a href=""https://pubmed.ncbi.nlm.nih.gov/amplification)"">amplification)</a>
 著者        Saksela K, Bergh J, Lehto VP, Nilsson K, Alitalo K
 タイトル      Amplification of the c-myc oncogene in a subpopulation of human small cell lung cancer.
 雑誌        Cancer Res 45:1823-7 (1985)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17426248"">17426248</a> (BCL2 <a href=""https://pubmed.ncbi.nlm.nih.gov/overexpression)"">overexpression)</a>
 著者        Olejniczak ET, Van Sant C, Anderson MG, Wang G, Tahir SK, Sauter G, Lesniewski R, Semizarov D
 タイトル      Integrative genomic analysis of small-cell lung carcinoma reveals correlates of sensitivity to bcl-2 antagonists and uncovers novel chromosomal gains.
 雑誌        Mol Cancer Res 5:331-9 (2007)
 DOI:<a href=""https://doi.org/10.1158/1541-7786.MCR-06-0367"">10.1158/1541-7786.MCR-06-0367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8620533"">8620533</a> (FHIT)
 著者        Sozzi G, Veronese ML, Negrini M, Baffa R, Cotticelli MG, Inoue H, Tornielli S, Pilotti S, De Gregorio L, Pastorino U, Pierotti MA, Ohta M, Huebner K, Croce CM
 タイトル      The FHIT gene 3p14.2 is abnormal in lung cancer.
 雑誌        Cell 85:17-26 (1996)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)81078-8"">10.1016/s0092-8674(00)81078-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2554494"">2554494</a> (TP53)
 著者        Takahashi T, Nau MM, Chiba I, Birrer MJ, Rosenberg RK, Vinocour M, Levitt M, Pass H, Gazdar AF, Minna JD
 タイトル      p53: a frequent target for genetic abnormalities in lung cancer.
 雑誌        Science 246:491-4 (1989)
 DOI:<a href=""https://doi.org/10.1126/science.2554494"">10.1126/science.2554494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2594029"">2594029</a> (RB1)
 著者        Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP
 タイトル      Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
 雑誌        N Engl J Med 321:1689-95 (1989)
 DOI:<a href=""https://doi.org/10.1056/NEJM198912213212501"">10.1056/NEJM198912213212501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9696041"">9696041</a> (PTEN)
 著者        Yokomizo A, Tindall DJ, Drabkin H, Gemmill R, Franklin W, Yang P, Sugio K, Smith DI, Liu W
 タイトル      PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers.
 雑誌        Oncogene 17:475-9 (1998)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1201956"">10.1038/sj.onc.1201956</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9765152"">9765152</a> (PPP2R1B)
 著者        Wang SS, Esplin ED, Li JL, Huang L, Gazdar A, Minna J, Evans GA
 タイトル      Alterations of the PPP2R1B gene in human lung and colon cancer.
 雑誌        Science 282:284-7 (1998)
 DOI:<a href=""https://doi.org/10.1126/science.282.5387.284"">10.1126/science.282.5387.284</a>"
H00014,"非小細胞肺癌
 上位グループ    固形腫瘍 [DS:H02421]",,,"Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous group of cancers, consisting mainly of squamous cell (SCC), adeno (AC) and large-cell carcinoma. Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor genes, such as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK fusion leads to constitutive ALK activation, which causes cell proliferation, invasion, and inhibition of apoptosis. Inactivating mutation of p53 can lead to more rapid proliferation and reduced apoptosis. The protein encoded by the p16INK4a inhibits formation of CDK-cyclin-D complexes by competitive binding of CDK4 and CDK6. Loss of p16INK4a expression is a common feature of NSCLC. RAR-beta is a nuclear receptor that bears vitamin-A-dependent transcriptional activity. RASSF1A is able to form heterodimers with Nore-1, an RAS effector. Therefore loss of RASSF1A might shift the balance of RAS activity towards a growth-promoting effect.",がん,"nt06234  cAMP signaling
 nt06266  Non-small cell lung cancer","EML4-ALK (translocation) [HSA:238] [KO:K05119]
 CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
 KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
 RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
 RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
 KRAS [HSA:3845] [KO:K07827]
 EGFR [HSA:1956] [KO:K04361]
 FHIT [HSA:2272] [KO:K01522]
 CDKN2A [HSA:1029] [KO:K06621]
 TP53 [HSA:7157] [KO:K04451]
 MET [HSA:4233] [KO:K05099]
 BRAF [HSA:673] [KO:K04365]
 PIK3CA [HSA:5290] [KO:K00922]
 IRF1 [HSA:3659] [KO:K09444]
 PPP2R1B [HSA:5519] [KO:K03456]",,,"Arsenic and arsenic compounds [CPD:C06269]
 Arsenic in drinking-water
 Asbestos [CPD:C16442]
 Chromium[VI]
 Mustard gas (Sulfur mustard)
 Nickel compounds
 Plutonium-239 and its decay products (may contain plutonium-240 and other isotopes), as aerosols
 Radon-222 and its decay products
 Silica, crystalline (inhaled in the form of quartz orcristobalite from occupational sources) [CPD:C16459]
 Tobacco smoking and tobacco smoke
 *Aluminium production
 *Benzo[a]pyrene [CPD:C07535]
 *Cadmium and cadmium compounds
 *Chimney sweeping
 *Coal gasification
 *Coal-tar pitches [CPD:C16451]
 *Coal-tars
 *Coke production
 *Furniture and cabinet making
 *Haematite mining (underground) with exposure to radon
 *Household combustion of coal, indoor emissions from
 *Involuntary smoking (exposure to secondhand or environmental tobacco smoke)
 *Iron and steel founding
 *Mineral oils, untreated and mildly treated
 *Painter (occupational exposure as a)
 *Paving and roofing with coal-tar pitch
 *Shale-oils [CPD:C16458]
 *Soots
 *Strong-inorganic-acid mists containing sulfuric acid
 *Talc containing asbestiform fibres
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin
 *X- and gamma-radiation
 *: Although this is a risk factor for lung cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:D00287]
 ニムスチン塩酸塩 [DR:D01059]
 フルオロウラシル [DR:D00584]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 ペメトレキセドナトリウム水和物 [DR:D06503]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 マイトマイシンC [DR:D00208]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 アクラルビシン塩酸塩 [DR:D01911]
 アムルビシン塩酸塩 [DR:D07100]
 ビンデシン硫酸塩 [DR:D01769]
 ビノレルビン酒石酸塩 [DR:D01935]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 イリノテカン塩酸塩水和物 [DR:D01061]
 ゲフィチニブ [DR:D01977] (EGFR遺伝子変異陽性)
 エルロチニブ塩酸塩 [DR:D04023] (EGFR遺伝子変異陽性)
 アファチニブマレイン酸塩 [DR:D09733] (EGFR遺伝子変異陽性)
 オシメルチニブメシル酸塩 [DR:D10766] (EGFR遺伝子変異陽性)
 ダコミチニブ水和物 [DR:D10514] (EGFR遺伝子変異陽性)
 ダブラフェニブメシル酸塩 [DR:D10104] (BRAF遺伝子変異陽性)
 クリゾチニブ [DR:D09731] (ALKまたはROS1融合遺伝子陽性)
 セリチニブ [DR:D10551] (ALK融合遺伝子陽性)
 アレクチニブ塩酸塩 [DR:D10450] (ALK融合遺伝子陽性)
 ブリグチニブ [DR:D10866] (ALK融合遺伝子陽性)
 ロルラチニブ [DR:D11012] (ALK融合遺伝子陽性)
 トラメチニブジメチルスルホキシド付加物 [DR:D10176] (BRAF遺伝子変異陽性)
 エヌトレクチニブ [DR:D10926] (ROS1融合遺伝子陽性)
 カプマチニブ塩酸塩水和物 [DR:D10891] (MET遺伝子エクソン14スキッピング変異陽性)
 テポチニブ塩酸塩水和物 [DR:D11073] (MET遺伝子エクソン14スキッピング変異陽性)
 セルペルカチニブ [DR:D11713] (RET融合遺伝子陽性)
 ネシツムマブ [DR:D10018]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 デュルバルマブ [DR:D10808]
 アテゾリズマブ [DR:D10773] (PD-L1陽性)
 ベバシズマブ [DR:D06409]
 ラムシルマブ [DR:D09371]
 イピリムマブ [DR:D04603]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ソトラシブ [DR:D12055] (KRAS G12C変異陽性)
 ネダプラチン [DR:D01416]
 タラポルフィンナトリウム [DR:D01985]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2C25.0 2C25.2 2C25.3
 ICD-10: C34
 MeSH: D002289","PMID:12741677
 著者        Yokota J, Nishioka M, Tani M, Kohno T.
 タイトル      Genetic alterations responsible for metastatic phenotypes of lung cancer cells.
 雑誌        Clin Exp Metastasis 20:189-93 (2003)
 DOI:10.1023/a:1022978932215
 PMID:12711111
 著者        Sanchez-Cespedes M.
 タイトル      Dissecting the genetic alterations involved in lung carcinogenesis.
 雑誌        Lung Cancer 40:111-21 (2003)
 DOI:10.1016/S0169-5002(03)00033-3
 PMID:12407699
 著者        Mitsuuchi Y, Testa JR.
 タイトル      Cytogenetics and molecular genetics of lung cancer.
 雑誌        Am J Med Genet 115:183-8 (2002)
 DOI:10.1002/ajmg.10692
 PMID:16112428
 著者        Panani AD, Roussos C.
 タイトル      Cytogenetic and molecular aspects of lung cancer.
 雑誌        Cancer Lett 239:1-9 (2006)
 DOI:10.1016/j.canlet.2005.06.030
 PMID:15769940
 著者        Meuwissen R, Berns A.
 タイトル      Mouse models for human lung cancer.
 雑誌        Genes Dev 19:643-64 (2005)
 DOI:10.1101/gad.1284505
 PMID:21850578
 著者        Toyooka S, Mitsudomi T, Soh J, Aokage K, Yamane M, Oto T, Kiura K, Miyoshi S
 タイトル      Molecular oncology of lung cancer.
 雑誌        Gen Thorac Cardiovasc Surg 59:527-37 (2011)
 DOI:10.1007/s11748-010-0743-3
 PMID:23733083
 著者        Koudelakova V, Kneblova M, Trojanec R, Drabek J, Hajduch M
 タイトル      Non-small cell lung cancer--genetic predictors.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 157:125-36 (2013)
 DOI:10.5507/bp.2013.034
 PMID:28443282
 著者        Sundar R, Chenard-Poirier M, Collins DC, Yap TA
 タイトル      Imprecision in the Era of Precision Medicine in Non-Small Cell Lung Cancer.
 雑誌        Front Med (Lausanne) 4:39 (2017)
 DOI:10.3389/fmed.2017.00039
 PMID:17625570 (EML4-ALK translocation)
 著者        Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H
 タイトル      Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.
 雑誌        Nature 448:561-6 (2007)
 DOI:10.1038/nature05945
 PMID:19406209 (CD74-ROS1,SLC34A2-ROS1  translocation)
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:10.1016/j.bbcan.2009.04.005
 PMID:22327623 (KIF5B-RET  inversion)
 著者        Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, Asaka R, Hamanaka W, Ninomiya H, Uehara H, Lim Choi Y, Satoh Y, Okumura S, Nakagawa K, Mano H, Ishikawa Y
 タイトル      RET, ROS1 and ALK fusions in lung cancer.
 雑誌        Nat Med 18:378-81 (2012)
 DOI:10.1038/nm.2658
 PMID:18349282 (RARB promoter hypermethylation)
 著者        Feng Q, Hawes SE, Stern JE, Wiens L, Lu H, Dong ZM, Jordan CD, Kiviat NB, Vesselle H
 タイトル      DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.
 雑誌        Cancer Epidemiol Biomarkers Prev 17:645-54 (2008)
 DOI:10.1158/1055-9965.EPI-07-2518
 PMID:11333291 (RASSF1 promoter hypermethylation)
 著者        Burbee DG, Forgacs E, Zochbauer-Muller S, Shivakumar L, Fong K, Gao B, Randle D, Kondo M, Virmani A, Bader S, Sekido Y, Latif F, Milchgrub S, Toyooka S, Gazdar AF, Lerman MI, Zabarovsky E, White M, Minna JD
 タイトル      Epigenetic inactivation of RASSF1A in lung and breast cancers and malignant phenotype suppression.
 雑誌        J Natl Cancer Inst 93:691-9 (2001)
 DOI:10.1093/jnci/93.9.691
 PMID:16533793 (KRAS)
 著者        Tam IY, Chung LP, Suen WS, Wang E, Wong MC, Ho KK, Lam WK, Chiu SW, Girard L, Minna JD, Gazdar AF, Wong MP
 タイトル      Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features.
 雑誌        Clin Cancer Res 12:1647-53 (2006)
 DOI:10.1158/1078-0432.CCR-05-1981
 PMID:15118073 (EGFR)
 著者        Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA.
 タイトル      Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.
 雑誌        N Engl J Med 350:2129-39 (2004)
 DOI:10.1056/NEJMoa040938
 PMID:8620533 (FHIT)
 著者        Sozzi G, Veronese ML, Negrini M, Baffa R, Cotticelli MG, Inoue H, Tornielli S, Pilotti S, De Gregorio L, Pastorino U, Pierotti MA, Ohta M, Huebner K, Croce CM
 タイトル      The FHIT gene 3p14.2 is abnormal in lung cancer.
 雑誌        Cell 85:17-26 (1996)
 DOI:10.1016/s0092-8674(00)81078-8
 PMID:8060323 (CDKN2A)
 著者        Hayashi N, Sugimoto Y, Tsuchiya E, Ogawa M, Nakamura Y
 タイトル      Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas.
 雑誌        Biochem Biophys Res Commun 202:1426-30 (1994)
 DOI:10.1006/bbrc.1994.2090
 PMID:2554494 (TP53)
 著者        Takahashi T, Nau MM, Chiba I, Birrer MJ, Rosenberg RK, Vinocour M, Levitt M, Pass H, Gazdar AF, Minna JD
 タイトル      p53: a frequent target for genetic abnormalities in lung cancer.
 雑誌        Science 246:491-4 (1989)
 DOI:10.1126/science.2554494
 PMID:28502721 (MET)
 著者        Lee GD, Lee SE, Oh DY, Yu DB, Jeong HM, Kim J, Hong S, Jung HS, Oh E, Song JY, Lee MS, Kim M, Jung K, Kim J, Shin YK, Choi YL, Kim HR
 タイトル      MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values.
 雑誌        J Thorac Oncol 12:1233-1246 (2017)
 DOI:10.1016/j.jtho.2017.04.031
 PMID:12460918 (BRAF)
 著者        Brose MS, Volpe P, Feldman M, Kumar M, Rishi I, Gerrero R, Einhorn E, Herlyn M, Minna J, Nicholson A, Roth JA, Albelda SM, Davies H, Cox C, Brignell G, Stephens P, Futreal PA, Wooster R, Stratton MR, Weber BL
 タイトル      BRAF and RAS mutations in human lung cancer and melanoma.
 雑誌        Cancer Res 62:6997-7000 (2002)
 PMID:15608678 (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:10.1038/sj.onc.1208304
 PMID:10395927 (IRF1)
 著者        Eason DD, Shepherd AT, Blanck G
 タイトル      Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding.
 雑誌        Biochim Biophys Acta 1446:140-4 (1999)
 DOI:10.1016/s0167-4781(99)00078-0
 PMID:9765152 (PPP2R1B)
 著者        Wang SS, Esplin ED, Li JL, Huang L, Gazdar A, Minna J, Evans GA
 タイトル      Alterations of the PPP2R1B gene in human lung and colon cancer.
 雑誌        Science 282:284-7 (1998)
 DOI:10.1126/science.282.5387.284","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00014"">H00014</a>","非小細胞肺癌
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous group of cancers, consisting mainly of squamous cell (SCC), adeno (AC) and large-cell carcinoma. Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor genes, such as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK fusion leads to constitutive ALK activation, which causes cell proliferation, invasion, and inhibition of apoptosis. Inactivating mutation of p53 can lead to more rapid proliferation and reduced apoptosis. The protein encoded by the p16INK4a inhibits formation of CDK-cyclin-D complexes by competitive binding of CDK4 and CDK6. Loss of p16INK4a expression is a common feature of NSCLC. RAR-beta is a nuclear receptor that bears vitamin-A-dependent transcriptional activity. RASSF1A is able to form heterodimers with Nore-1, an RAS effector. Therefore loss of RASSF1A might shift the balance of RAS activity towards a growth-promoting effect.","<a href=""https://www.kegg.jp/network/nt06234"">nt06234</a>  cAMP signaling
 <a href=""https://www.kegg.jp/network/nt06266"">nt06266</a>  Non-small cell lung cancer","EML4-ALK (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:238"">238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05119"">K05119</a>]
 CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6098"">6098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05088"">K05088</a>]
 KIF5B-RET (inversion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a>]
 RARB (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5915"">5915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08528"">K08528</a>]
 RASSF1 (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11186"">11186</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09850"">K09850</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 EGFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 FHIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2272"">2272</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01522"">K01522</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 MET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 IRF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3659"">3659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09444"">K09444</a>]
 PPP2R1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5519"">5519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03456"">K03456</a>]",,,"Arsenic and arsenic compounds [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06269"">C06269</a>]
 Arsenic in drinking-water
 Asbestos [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16442"">C16442</a>]
 Chromium[VI]
 Mustard gas (Sulfur mustard)
 Nickel compounds
 Plutonium-239 and its decay products (may contain plutonium-240 and other isotopes), as aerosols
 Radon-222 and its decay products
 Silica, crystalline (inhaled in the form of quartz orcristobalite from occupational sources) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16459"">C16459</a>]
 Tobacco smoking and tobacco smoke
 *Aluminium production
 *Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 *Cadmium and cadmium compounds
 *Chimney sweeping
 *Coal gasification
 *Coal-tar pitches [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16451"">C16451</a>]
 *Coal-tars
 *Coke production
 *Furniture and cabinet making
 *Haematite mining (underground) with exposure to radon
 *Household combustion of coal, indoor emissions from
 *Involuntary smoking (exposure to secondhand or environmental tobacco smoke)
 *Iron and steel founding
 *Mineral oils, untreated and mildly treated
 *Painter (occupational exposure as a)
 *Paving and roofing with coal-tar pitch
 *Shale-oils [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16458"">C16458</a>]
 *Soots
 *Strong-inorganic-acid mists containing sulfuric acid
 *Talc containing asbestiform fibres
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin
 *X- and gamma-radiation
 *: Although this is a risk factor for lung cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 ペメトレキセドナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06503"">D06503</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 アムルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07100"">D07100</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 ビノレルビン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01935"">D01935</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 ゲフィチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01977"">D01977</a>] (EGFR遺伝子変異陽性)
 エルロチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04023"">D04023</a>] (EGFR遺伝子変異陽性)
 アファチニブマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09733"">D09733</a>] (EGFR遺伝子変異陽性)
 オシメルチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10766"">D10766</a>] (EGFR遺伝子変異陽性)
 ダコミチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10514"">D10514</a>] (EGFR遺伝子変異陽性)
 ダブラフェニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10104"">D10104</a>] (BRAF遺伝子変異陽性)
 クリゾチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09731"">D09731</a>] (ALKまたはROS1融合遺伝子陽性)
 セリチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10551"">D10551</a>] (ALK融合遺伝子陽性)
 アレクチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10450"">D10450</a>] (ALK融合遺伝子陽性)
 ブリグチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10866"">D10866</a>] (ALK融合遺伝子陽性)
 ロルラチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11012"">D11012</a>] (ALK融合遺伝子陽性)
 トラメチニブジメチルスルホキシド付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10176"">D10176</a>] (BRAF遺伝子変異陽性)
 エヌトレクチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10926"">D10926</a>] (ROS1融合遺伝子陽性)
 カプマチニブ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10891"">D10891</a>] (MET遺伝子エクソン14スキッピング変異陽性)
 テポチニブ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11073"">D11073</a>] (MET遺伝子エクソン14スキッピング変異陽性)
 セルペルカチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11713"">D11713</a>] (RET融合遺伝子陽性)
 ネシツムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10018"">D10018</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 デュルバルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10808"">D10808</a>]
 アテゾリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10773"">D10773</a>] (PD-L1陽性)
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 ラムシルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09371"">D09371</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ソトラシブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12055"">D12055</a>] (KRAS G12C変異陽性)
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 タラポルフィンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01985"">D01985</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2C25.0 2C25.2 2C25.3
 ICD-10: C34
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002289"">D002289</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12741677"">12741677</a>
 著者        Yokota J, Nishioka M, Tani M, Kohno T.
 タイトル      Genetic alterations responsible for metastatic phenotypes of lung cancer cells.
 雑誌        Clin Exp Metastasis 20:189-93 (2003)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1022978932215"">1022978932215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12711111"">12711111</a>
 著者        Sanchez-Cespedes M.
 タイトル      Dissecting the genetic alterations involved in lung carcinogenesis.
 雑誌        Lung Cancer 40:111-21 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0169-5002(03)00033-3"">10.1016/S0169-5002(03)00033-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12407699"">12407699</a>
 著者        Mitsuuchi Y, Testa JR.
 タイトル      Cytogenetics and molecular genetics of lung cancer.
 雑誌        Am J Med Genet 115:183-8 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10692"">10.1002/ajmg.10692</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16112428"">16112428</a>
 著者        Panani AD, Roussos C.
 タイトル      Cytogenetic and molecular aspects of lung cancer.
 雑誌        Cancer Lett 239:1-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2005.06.030"">10.1016/j.canlet.2005.06.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15769940"">15769940</a>
 著者        Meuwissen R, Berns A.
 タイトル      Mouse models for human lung cancer.
 雑誌        Genes Dev 19:643-64 (2005)
 DOI:<a href=""https://doi.org/10.1101/gad.1284505"">10.1101/gad.1284505</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21850578"">21850578</a>
 著者        Toyooka S, Mitsudomi T, Soh J, Aokage K, Yamane M, Oto T, Kiura K, Miyoshi S
 タイトル      Molecular oncology of lung cancer.
 雑誌        Gen Thorac Cardiovasc Surg 59:527-37 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11748-010-0743-3"">10.1007/s11748-010-0743-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23733083"">23733083</a>
 著者        Koudelakova V, Kneblova M, Trojanec R, Drabek J, Hajduch M
 タイトル      Non-small cell lung cancer--genetic predictors.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 157:125-36 (2013)
 DOI:<a href=""https://doi.org/10.5507/bp.2013.034"">10.5507/bp.2013.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28443282"">28443282</a>
 著者        Sundar R, Chenard-Poirier M, Collins DC, Yap TA
 タイトル      Imprecision in the Era of Precision Medicine in Non-Small Cell Lung Cancer.
 雑誌        Front Med (Lausanne) 4:39 (2017)
 DOI:<a href=""https://doi.org/10.3389/fmed.2017.00039"">10.3389/fmed.2017.00039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17625570"">17625570</a> (EML4-ALK <a href=""https://pubmed.ncbi.nlm.nih.gov/translocation)"">translocation)</a>
 著者        Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H
 タイトル      Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.
 雑誌        Nature 448:561-6 (2007)
 DOI:<a href=""https://doi.org/10.1038/nature05945"">10.1038/nature05945</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19406209"">19406209</a> (CD74-ROS1,SLC34A2-ROS1  <a href=""https://pubmed.ncbi.nlm.nih.gov/translocation)"">translocation)</a>
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbcan.2009.04.005"">10.1016/j.bbcan.2009.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22327623"">22327623</a> (KIF5B-RET  <a href=""https://pubmed.ncbi.nlm.nih.gov/inversion)"">inversion)</a>
 著者        Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, Asaka R, Hamanaka W, Ninomiya H, Uehara H, Lim Choi Y, Satoh Y, Okumura S, Nakagawa K, Mano H, Ishikawa Y
 タイトル      RET, ROS1 and ALK fusions in lung cancer.
 雑誌        Nat Med 18:378-81 (2012)
 DOI:<a href=""https://doi.org/10.1038/nm.2658"">10.1038/nm.2658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18349282"">18349282</a> (RARB <a href=""https://pubmed.ncbi.nlm.nih.gov/promoter"">promoter</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/hypermethylation)"">hypermethylation)</a>
 著者        Feng Q, Hawes SE, Stern JE, Wiens L, Lu H, Dong ZM, Jordan CD, Kiviat NB, Vesselle H
 タイトル      DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.
 雑誌        Cancer Epidemiol Biomarkers Prev 17:645-54 (2008)
 DOI:<a href=""https://doi.org/10.1158/1055-9965.EPI-07-2518"">10.1158/1055-9965.EPI-07-2518</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11333291"">11333291</a> (RASSF1 <a href=""https://pubmed.ncbi.nlm.nih.gov/promoter"">promoter</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/hypermethylation)"">hypermethylation)</a>
 著者        Burbee DG, Forgacs E, Zochbauer-Muller S, Shivakumar L, Fong K, Gao B, Randle D, Kondo M, Virmani A, Bader S, Sekido Y, Latif F, Milchgrub S, Toyooka S, Gazdar AF, Lerman MI, Zabarovsky E, White M, Minna JD
 タイトル      Epigenetic inactivation of RASSF1A in lung and breast cancers and malignant phenotype suppression.
 雑誌        J Natl Cancer Inst 93:691-9 (2001)
 DOI:<a href=""https://doi.org/10.1093/jnci/93.9.691"">10.1093/jnci/93.9.691</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16533793"">16533793</a> (KRAS)
 著者        Tam IY, Chung LP, Suen WS, Wang E, Wong MC, Ho KK, Lam WK, Chiu SW, Girard L, Minna JD, Gazdar AF, Wong MP
 タイトル      Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features.
 雑誌        Clin Cancer Res 12:1647-53 (2006)
 DOI:<a href=""https://doi.org/10.1158/1078-0432.CCR-05-1981"">10.1158/1078-0432.CCR-05-1981</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15118073"">15118073</a> (EGFR)
 著者        Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA.
 タイトル      Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.
 雑誌        N Engl J Med 350:2129-39 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa040938"">10.1056/NEJMoa040938</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8620533"">8620533</a> (FHIT)
 著者        Sozzi G, Veronese ML, Negrini M, Baffa R, Cotticelli MG, Inoue H, Tornielli S, Pilotti S, De Gregorio L, Pastorino U, Pierotti MA, Ohta M, Huebner K, Croce CM
 タイトル      The FHIT gene 3p14.2 is abnormal in lung cancer.
 雑誌        Cell 85:17-26 (1996)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)81078-8"">10.1016/s0092-8674(00)81078-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8060323"">8060323</a> (CDKN2A)
 著者        Hayashi N, Sugimoto Y, Tsuchiya E, Ogawa M, Nakamura Y
 タイトル      Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas.
 雑誌        Biochem Biophys Res Commun 202:1426-30 (1994)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1994.2090"">10.1006/bbrc.1994.2090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2554494"">2554494</a> (TP53)
 著者        Takahashi T, Nau MM, Chiba I, Birrer MJ, Rosenberg RK, Vinocour M, Levitt M, Pass H, Gazdar AF, Minna JD
 タイトル      p53: a frequent target for genetic abnormalities in lung cancer.
 雑誌        Science 246:491-4 (1989)
 DOI:<a href=""https://doi.org/10.1126/science.2554494"">10.1126/science.2554494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28502721"">28502721</a> (MET)
 著者        Lee GD, Lee SE, Oh DY, Yu DB, Jeong HM, Kim J, Hong S, Jung HS, Oh E, Song JY, Lee MS, Kim M, Jung K, Kim J, Shin YK, Choi YL, Kim HR
 タイトル      MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values.
 雑誌        J Thorac Oncol 12:1233-1246 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jtho.2017.04.031"">10.1016/j.jtho.2017.04.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12460918"">12460918</a> (BRAF)
 著者        Brose MS, Volpe P, Feldman M, Kumar M, Rishi I, Gerrero R, Einhorn E, Herlyn M, Minna J, Nicholson A, Roth JA, Albelda SM, Davies H, Cox C, Brignell G, Stephens P, Futreal PA, Wooster R, Stratton MR, Weber BL
 タイトル      BRAF and RAS mutations in human lung cancer and melanoma.
 雑誌        Cancer Res 62:6997-7000 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15608678"">15608678</a> (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1208304"">10.1038/sj.onc.1208304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10395927"">10395927</a> (IRF1)
 著者        Eason DD, Shepherd AT, Blanck G
 タイトル      Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding.
 雑誌        Biochim Biophys Acta 1446:140-4 (1999)
 DOI:<a href=""https://doi.org/10.1016/s0167-4781(99)00078-0"">10.1016/s0167-4781(99)00078-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9765152"">9765152</a> (PPP2R1B)
 著者        Wang SS, Esplin ED, Li JL, Huang L, Gazdar A, Minna J, Evans GA
 タイトル      Alterations of the PPP2R1B gene in human lung and colon cancer.
 雑誌        Science 282:284-7 (1998)
 DOI:<a href=""https://doi.org/10.1126/science.282.5387.284"">10.1126/science.282.5387.284</a>"
H00015,悪性胸膜中皮腫,,,"Malignant mesothelioma (MM) is a rare but very aggressive tumor that arises from mesothelial cells lining the pleural, peritoneal and pericardial cavities. Malignant pleural mesothelioma (MPM) is the most common type, accounting for about 70% of all MM cases. Past asbestos exposure represents the major risk factor for MPM, as the link between asbestos fibres and MPM has been largely proved by epidemiological and experimental studies. Recently, simian virus 40 (SV40) has been implicated in the aetiology of MPM. The accumulation of numerous clonal chromosomal deletions in most MMs suggests a multistep process of tumorigenesis, characterized by the loss and/or inactivation of multiple tumor suppressor genes (TSGs). Cytogenetic and loss of heterozygosity (LOH) analyses of MMs have demonstrated frequent deletions of specific sites within chromosome arms 1p, 3p, 6q, 9p, 13q, 15q, and 22q. Furthermore, TSGs within two of these regions, i.e., p16/CDKN2A-p14ARF at 9p21 and NF2 at 22q12, are frequently altered in MMs. Mutations of the p53 gene (TP53) are occasionally observed in MMs.",がん,,"p53 (inactivation) [HSA:7157] [KO:K04451]
 p16/CDKN2A (deletion) [HSA:1029] [KO:K06621]
 p15/CDKN2B (deletion) [HSA:1030] [KO:K04685]
 NF2 (mutation) [HSA:4771] [KO:K16684]
 PDGF-A (overexpression) [HSA:5154] [KO:K04359]
 PDGF-B (overexpression) [HSA:5155] [KO:K17386]
 IGF-1 (expression) [HSA:3479] [KO:K05459]
 IGF-R1 (expression) [HSA:3480] [KO:K05087]",,,"Asbestos [CPD:C16442]
 病原体         Simian virus 40 (SV40) [GN:T40086]","ペメトレキセドナトリウム水和物 [DR:D06503]
 ニボルマブ [DR:D10316]
 イピリムマブ [DR:D04603]
 シスプラチン [DR:D00275]",,"ICD-11: 2C26
 ICD-10: C45
 MeSH: D008654","PMID:16216411 (gene, tumor type, carcinogen)
 著者        Whitson BA, Kratzke RA.
 タイトル      Molecular pathways in malignant pleural mesothelioma.
 雑誌        Cancer Lett 239:183-9 (2006)
 DOI:10.1016/j.canlet.2005.08.010
 PMID:15691231 (gene, carcinogen)
 著者        Jaurand MC, Fleury-Feith J.
 タイトル      Pathogenesis of malignant pleural mesothelioma.
 雑誌        Respirology 10:2-8 (2005)
 DOI:10.1111/j.1440-1843.2005.00694.x
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:17375514 (carcinogen)
 著者        O'Reilly KM, Mclaughlin AM, Beckett WS, Sime PJ.
 タイトル      Asbestos-related lung disease.
 雑誌        Am Fam Physician 75:683-8 (2007)
 PMID:15955137 (marker)
 著者        Sterman DH, Albelda SM.
 タイトル      Advances in the diagnosis, evaluation, and management of malignant pleural mesothelioma.
 雑誌        Respirology 10:266-83 (2005)
 DOI:10.1111/j.1440-1843.2005.00714.x
 PMID:12883236 (marker)
 著者        Ordonez NG.
 タイトル      The immunohistochemical diagnosis of mesothelioma: a comparative study of epithelioid mesothelioma and lung adenocarcinoma.
 雑誌        Am J Surg Pathol 27:1031-51 (2003)
 DOI:10.1097/00000478-200308000-00001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00015"">H00015</a>",悪性胸膜中皮腫,"Malignant mesothelioma (MM) is a rare but very aggressive tumor that arises from mesothelial cells lining the pleural, peritoneal and pericardial cavities. Malignant pleural mesothelioma (MPM) is the most common type, accounting for about 70% of all MM cases. Past asbestos exposure represents the major risk factor for MPM, as the link between asbestos fibres and MPM has been largely proved by epidemiological and experimental studies. Recently, simian virus 40 (SV40) has been implicated in the aetiology of MPM. The accumulation of numerous clonal chromosomal deletions in most MMs suggests a multistep process of tumorigenesis, characterized by the loss and/or inactivation of multiple tumor suppressor genes (TSGs). Cytogenetic and loss of heterozygosity (LOH) analyses of MMs have demonstrated frequent deletions of specific sites within chromosome arms 1p, 3p, 6q, 9p, 13q, 15q, and 22q. Furthermore, TSGs within two of these regions, i.e., p16/CDKN2A-p14ARF at 9p21 and NF2 at 22q12, are frequently altered in MMs. Mutations of the p53 gene (TP53) are occasionally observed in MMs.",,"p53 (inactivation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/CDKN2A (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 p15/CDKN2B (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 NF2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4771"">4771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16684"">K16684</a>]
 PDGF-A (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5154"">5154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04359"">K04359</a>]
 PDGF-B (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5155"">5155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17386"">K17386</a>]
 IGF-1 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3479"">3479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05459"">K05459</a>]
 IGF-R1 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3480"">3480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05087"">K05087</a>]",,,"Asbestos [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16442"">C16442</a>]
 病原体         Simian virus 40 (SV40) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40086"">T40086</a>]","ペメトレキセドナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06503"">D06503</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]",,"ICD-11: 2C26
 ICD-10: C45
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008654"">D008654</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16216411"">16216411</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type,"">type,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Whitson BA, Kratzke RA.
 タイトル      Molecular pathways in malignant pleural mesothelioma.
 雑誌        Cancer Lett 239:183-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2005.08.010"">10.1016/j.canlet.2005.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15691231"">15691231</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Jaurand MC, Fleury-Feith J.
 タイトル      Pathogenesis of malignant pleural mesothelioma.
 雑誌        Respirology 10:2-8 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1843.2005.00694.x"">10.1111/j.1440-1843.2005.00694.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17375514"">17375514</a> (carcinogen)
 著者        O'Reilly KM, Mclaughlin AM, Beckett WS, Sime PJ.
 タイトル      Asbestos-related lung disease.
 雑誌        Am Fam Physician 75:683-8 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15955137"">15955137</a> (marker)
 著者        Sterman DH, Albelda SM.
 タイトル      Advances in the diagnosis, evaluation, and management of malignant pleural mesothelioma.
 雑誌        Respirology 10:266-83 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1843.2005.00714.x"">10.1111/j.1440-1843.2005.00714.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12883236"">12883236</a> (marker)
 著者        Ordonez NG.
 タイトル      The immunohistochemical diagnosis of mesothelioma: a comparative study of epithelioid mesothelioma and lung adenocarcinoma.
 雑誌        Am J Surg Pathol 27:1031-51 (2003)
 DOI:<a href=""https://doi.org/10.1097/00000478-200308000-00001"">10.1097/00000478-200308000-00001</a>"
H00016,"口腔癌
 下位グループ    舌癌
 上位グループ    頭頸部癌 [DS:H02420]
 固形腫瘍 [DS:H02421]",,,"Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations, according to the International Classification of Diseases. Nevertheless, the term is synonymous to squamous cell carcinoma (SCC) of oral mucosal origin that accounts for more than 90% of all malignant presentations at the aforementioned anatomical sites. Worldwide, oral SCC (OSCC) is the sixth most common cancer; more than 300,000 new cases are diagnosed each year. The development of OSCC is a multistep process requiring the accumulation of multiple genetic alterations, influenced by a patient's genetic predisposition as well as by environmental influences, including tobacco, alcohol, chronic inflammation, and viral infection. The genetic changes include activation of the epidermal growth factor receptor (EGFR), alterations of tumor suppressors p53 and p16, and cyclin D1 overexpression.",がん,,"p53 (mutation, deletion) [HSA:7157] [KO:K04451]
 p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621]
 EGFR (overexpression) [HSA:1956] [KO:K04361]
 c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377]
 N-ras (amplification) [HSA:4893] [KO:K07828]
 K-ras (amplification) [HSA:3845] [KO:K07827]
 Cyclin D1 (amplification) [HSA:595] [KO:K04503]
 STAT-3 (expression) [HSA:6774] [KO:K04692]",,,"Alcoholic beverages
 Areca nut
 Betel quid with tobacco
 Betel quid without tobacco
 Radionuclides, alpha-particle-emitting, internally deposited
 Tobacco, smokeless
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:T40087]
 Human papillomavirus type 18 [GN:T40088]","ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2B60 2B61 2B62 2B63 2B64 2B65 2B66
 ICD-10: C00 C01 C02 C03 C04 C05 C06
 MeSH: D009062","PMID:17258495 (description, tumor type)
 著者        Tsantoulis PK, Kastrinakis NG, Tourvas AD, Laskaris G, Gorgoulis VG
 タイトル      Advances in the biology of oral cancer.
 雑誌        Oral Oncol 43:523-34 (2007)
 DOI:10.1016/j.oraloncology.2006.11.010
 PMID:18096889
 著者        Choi S, Myers JN
 タイトル      Molecular pathogenesis of oral squamous cell carcinoma: implications for therapy.
 雑誌        J Dent Res 87:14-32 (2008)
 DOI:10.1177/154405910808700104
 PMID:12444391 (gene, tumor type, carcinogen)
 著者        Das BR, Nagpal JK.
 タイトル      Understanding the biology of oral cancer.
 雑誌        Med Sci Monit 8:RA258-67 (2002)
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733
 PMID:17646865 (carcinogen)
 著者        Seitz HK, Stickel F.
 タイトル      Molecular mechanisms of alcohol-mediated carcinogenesis.
 雑誌        Nat Rev Cancer 7:599-612 (2007)
 DOI:10.1038/nrc2191
 PMID:9448210 (carcinogen)
 著者        Norton SA.
 タイトル      Betel: consumption and consequences.
 雑誌        J Am Acad Dermatol 38:81-8 (1998)
 DOI:10.1016/S0190-9622(98)70543-2
 PMID:17163423 (carcinogen)
 著者        Thomas SJ, Bain CJ, Battistutta D, Ness AR, Paissat D, Maclennan R.
 タイトル      Betel quid not containing tobacco and oral cancer: a report on a case-control study in Papua New Guinea and a meta-analysis of current evidence.
 雑誌        Int J Cancer 120:1318-23 (2007)
 DOI:10.1002/ijc.22304
 PMID:14996286 (carcinogen)
 著者        Warnakulasuriya S.
 タイトル      Smokeless tobacco and oral cancer.
 雑誌        Oral Dis 10:1-4 (2004)
 DOI:10.1046/j.1354-523X.2003.00975.x
 PMID:9524432 (carcinogen)
 著者        Hoffmann D, Djordjevic MV.
 タイトル      Chemical composition and carcinogenicity of smokeless tobacco.
 雑誌        Adv Dent Res 11:322-9 (1997)
 DOI:10.1177/08959374970110030301
 PMID:15489140 (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:10.1016/j.semcancer.2004.06.010
 PMID:15552776 (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:10.1016/j.lungcan.2004.07.998
 PMID:12767868 (marker)
 著者        Schliephake H.
 タイトル      Prognostic relevance of molecular markers of oral cancer--a review.
 雑誌        Int J Oral Maxillofac Surg 32:233-45 (2003)
 DOI:10.1054/ijom.2002.0383
 PMID:14693233 (marker)
 著者        Bettendorf O, Piffko J, Bankfalvi A.
 タイトル      Prognostic and predictive factors in oral squamous cell cancer: important tools for planning individual therapy?
 雑誌        Oral Oncol 40:110-9 (2004)
 DOI:10.1016/j.oraloncology.2003.08.010
 PMID:15580114 (marker)
 著者        Chimenos-Kustner E, Font-Costa I, Lopez-Lopez J.
 タイトル      Oral cancer risk and molecular markers.
 雑誌        Med Oral Patol Oral Cir Bucal 9:381-4; 377-80 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00016"">H00016</a>","口腔癌
 下位グループ    舌癌
 上位グループ    頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations, according to the International Classification of Diseases. Nevertheless, the term is synonymous to squamous cell carcinoma (SCC) of oral mucosal origin that accounts for more than 90% of all malignant presentations at the aforementioned anatomical sites. Worldwide, oral SCC (OSCC) is the sixth most common cancer; more than 300,000 new cases are diagnosed each year. The development of OSCC is a multistep process requiring the accumulation of multiple genetic alterations, influenced by a patient's genetic predisposition as well as by environmental influences, including tobacco, alcohol, chronic inflammation, and viral infection. The genetic changes include activation of the epidermal growth factor receptor (EGFR), alterations of tumor suppressors p53 and p16, and cyclin D1 overexpression.",,"p53 (mutation, deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (mutation, loss of expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 c-myc/N-myc (amplification, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 N-ras (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 K-ras (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 Cyclin D1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 STAT-3 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6774"">6774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04692"">K04692</a>]",,,"Alcoholic beverages
 Areca nut
 Betel quid with tobacco
 Betel quid without tobacco
 Radionuclides, alpha-particle-emitting, internally deposited
 Tobacco, smokeless
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]
 Human papillomavirus type 18 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a>]","ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2B60 2B61 2B62 2B63 2B64 2B65 2B66
 ICD-10: C00 C01 C02 C03 C04 C05 C06
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009062"">D009062</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17258495"">17258495</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Tsantoulis PK, Kastrinakis NG, Tourvas AD, Laskaris G, Gorgoulis VG
 タイトル      Advances in the biology of oral cancer.
 雑誌        Oral Oncol 43:523-34 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.oraloncology.2006.11.010"">10.1016/j.oraloncology.2006.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18096889"">18096889</a>
 著者        Choi S, Myers JN
 タイトル      Molecular pathogenesis of oral squamous cell carcinoma: implications for therapy.
 雑誌        J Dent Res 87:14-32 (2008)
 DOI:<a href=""https://doi.org/10.1177/154405910808700104"">10.1177/154405910808700104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12444391"">12444391</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type,"">type,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Das BR, Nagpal JK.
 タイトル      Understanding the biology of oral cancer.
 雑誌        Med Sci Monit 8:RA258-67 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17646865"">17646865</a> (carcinogen)
 著者        Seitz HK, Stickel F.
 タイトル      Molecular mechanisms of alcohol-mediated carcinogenesis.
 雑誌        Nat Rev Cancer 7:599-612 (2007)
 DOI:<a href=""https://doi.org/10.1038/nrc2191"">10.1038/nrc2191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9448210"">9448210</a> (carcinogen)
 著者        Norton SA.
 タイトル      Betel: consumption and consequences.
 雑誌        J Am Acad Dermatol 38:81-8 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0190-9622(98)70543-2"">10.1016/S0190-9622(98)70543-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17163423"">17163423</a> (carcinogen)
 著者        Thomas SJ, Bain CJ, Battistutta D, Ness AR, Paissat D, Maclennan R.
 タイトル      Betel quid not containing tobacco and oral cancer: a report on a case-control study in Papua New Guinea and a meta-analysis of current evidence.
 雑誌        Int J Cancer 120:1318-23 (2007)
 DOI:<a href=""https://doi.org/10.1002/ijc.22304"">10.1002/ijc.22304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14996286"">14996286</a> (carcinogen)
 著者        Warnakulasuriya S.
 タイトル      Smokeless tobacco and oral cancer.
 雑誌        Oral Dis 10:1-4 (2004)
 DOI:<a href=""https://doi.org/10.1046/j.1354-523X.2003.00975.x"">10.1046/j.1354-523X.2003.00975.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9524432"">9524432</a> (carcinogen)
 著者        Hoffmann D, Djordjevic MV.
 タイトル      Chemical composition and carcinogenicity of smokeless tobacco.
 雑誌        Adv Dent Res 11:322-9 (1997)
 DOI:<a href=""https://doi.org/10.1177/08959374970110030301"">10.1177/08959374970110030301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489140"">15489140</a> (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.semcancer.2004.06.010"">10.1016/j.semcancer.2004.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15552776"">15552776</a> (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.lungcan.2004.07.998"">10.1016/j.lungcan.2004.07.998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12767868"">12767868</a> (marker)
 著者        Schliephake H.
 タイトル      Prognostic relevance of molecular markers of oral cancer--a review.
 雑誌        Int J Oral Maxillofac Surg 32:233-45 (2003)
 DOI:<a href=""https://doi.org/10.1054/ijom.2002.0383"">10.1054/ijom.2002.0383</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14693233"">14693233</a> (marker)
 著者        Bettendorf O, Piffko J, Bankfalvi A.
 タイトル      Prognostic and predictive factors in oral squamous cell cancer: important tools for planning individual therapy?
 雑誌        Oral Oncol 40:110-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.oraloncology.2003.08.010"">10.1016/j.oraloncology.2003.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15580114"">15580114</a> (marker)
 著者        Chimenos-Kustner E, Font-Costa I, Lopez-Lopez J.
 タイトル      Oral cancer risk and molecular markers.
 雑誌        Med Oral Patol Oral Cir Bucal 9:381-4; 377-80 (2004)"
H00017,食道癌,,,"Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ECSC) and adenocarcinoma (EAC). ECSC is the most frequent histological subtype in esophageal cancer, although the incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others.",がん,,"EGFR (overexpression) [HSA:1956] [KO:K04361]
 PTGS2 (overexpression) [HSA:5743] [KO:K11987]
 NOS2 (increased expression) [HSA:4843] [KO:K13241]
 FAS (increased expression) [HSA:355] [KO:K04390]
 CCND1 (amplification) [HSA:595] [KO:K04503]
 TP53 [HSA:7157] [KO:K04451]
 CDKN2A [HSA:1029] [KO:K06621]
 RB1 [HSA:5925] [KO:K06618]
 APC [HSA:324] [KO:K02085]
 DCC [HSA:1630] [KO:K06765]
 LZTS1 [HSA:11178]
 RNF6 [HSA:6049] [KO:K22753]
 TGFBR2 [HSA:7048] [KO:K04388]
 WWOX [HSA:51741] [KO:K19329]",,,"Betel quid with tobacco
 Betel quid without tobacco
 Ethanol in alcoholic beverages [CPD:C00469]","フルオロウラシル [DR:D00584]
 ブレオマイシン塩酸塩 [DR:D03229]
 ビンデシン硫酸塩 [DR:D01769]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 イピリムマブ [DR:D04603]
 シスプラチン [DR:D00275]
 ネダプラチン [DR:D01416]
 タラポルフィンナトリウム [DR:D01985]",,"ICD-11: 2B70
 ICD-10: C15
 MeSH: D004938
 OMIM: 133239","PMID:15622457 (EGFR, TP53, PTGS2, NOS2, CCND1, CDKN2A, RB1)
 著者        Kuwano H, Kato H, Miyazaki T, Fukuchi M, Masuda N, Nakajima M, Fukai Y, Sohda M, Kimura H, Faried A.
 タイトル      Genetic alterations in esophageal cancer.
 雑誌        Surg Today 35:7-18 (2005)
 DOI:10.1007/s00595-004-2885-3
 PMID:12951586 (APC, CDKN2A, NOS2, RB1, PTGS2, TP53, RB1, EGFR, FAS)
 著者        Wild CP, Hardie LJ.
 タイトル      Reflux, Barrett's oesophagus and adenocarcinoma: burning questions.
 雑誌        Nat Rev Cancer 3:676-84 (2003)
 DOI:10.1038/nrc1166
 PMID:15914317 (CCND1, TP53, RB1, CDKN2A, APC, WWOX, FAS)
 著者        McCabe ML, Dlamini Z.
 タイトル      The molecular mechanisms of oesophageal cancer.
 雑誌        Int Immunopharmacol 5:1113-30 (2005)
 DOI:10.1016/j.intimp.2004.11.017
 PMID:8187090 (DCC)
 著者        Miyake S, Nagai K, Yoshino K, Oto M, Endo M, Yuasa Y
 タイトル      Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis.
 雑誌        Cancer Res 54:3007-10 (1994)
 PMID:11504921 (LZTS1)
 著者        Ishii H, Vecchione A, Murakumo Y, Baldassarre G, Numata S, Trapasso F, Alder H, Baffa R, Croce CM
 タイトル      FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis.
 雑誌        Proc Natl Acad Sci U S A 98:10374-9 (2001)
 DOI:10.1073/pnas.181222898
 PMID:12154016 (RNF6)
 著者        Lo HS, Hu N, Gere S, Lu N, Su H, Goldstein AM, Taylor PR, Lee MP
 タイトル      Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma.
 雑誌        Cancer Res 62:4191-3 (2002)
 PMID:10789724 (TGFBR2)
 著者        Tanaka S, Mori M, Mafune K, Ohno S, Sugimachi K
 タイトル      A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.
 雑誌        Br J Cancer 82:1557-60 (2000)
 DOI:10.1054/bjoc.1999.1178
 PMID:11956080 (WWOX)
 著者        Kuroki T, Trapasso F, Shiraishi T, Alder H, Mimori K, Mori M, Croce CM
 タイトル      Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.
 雑誌        Cancer Res 62:2258-60 (2002)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00017"">H00017</a>",食道癌,"Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ECSC) and adenocarcinoma (EAC). ECSC is the most frequent histological subtype in esophageal cancer, although the incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others.",,"EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 PTGS2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5743"">5743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11987"">K11987</a>]
 NOS2 (increased expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4843"">4843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13241"">K13241</a>]
 FAS (increased expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]
 CCND1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 RB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 DCC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1630"">1630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06765"">K06765</a>]
 LZTS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11178"">11178</a>]
 RNF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6049"">6049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22753"">K22753</a>]
 TGFBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 WWOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51741"">51741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19329"">K19329</a>]",,,"Betel quid with tobacco
 Betel quid without tobacco
 Ethanol in alcoholic beverages [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00469"">C00469</a>]","フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 タラポルフィンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01985"">D01985</a>]",,"ICD-11: 2B70
 ICD-10: C15
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004938"">D004938</a>
 OMIM: <a href=""https://www.omim.org/entry/133239"">133239</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15622457"">15622457</a> (EGFR, <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PTGS2,"">PTGS2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NOS2,"">NOS2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCND1,"">CCND1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDKN2A,"">CDKN2A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RB1)"">RB1)</a>
 著者        Kuwano H, Kato H, Miyazaki T, Fukuchi M, Masuda N, Nakajima M, Fukai Y, Sohda M, Kimura H, Faried A.
 タイトル      Genetic alterations in esophageal cancer.
 雑誌        Surg Today 35:7-18 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00595-004-2885-3"">10.1007/s00595-004-2885-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951586"">12951586</a> (APC, <a href=""https://pubmed.ncbi.nlm.nih.gov/CDKN2A,"">CDKN2A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NOS2,"">NOS2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RB1,"">RB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PTGS2,"">PTGS2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RB1,"">RB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/EGFR,"">EGFR,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FAS)"">FAS)</a>
 著者        Wild CP, Hardie LJ.
 タイトル      Reflux, Barrett's oesophagus and adenocarcinoma: burning questions.
 雑誌        Nat Rev Cancer 3:676-84 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1166"">10.1038/nrc1166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15914317"">15914317</a> (CCND1, <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RB1,"">RB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDKN2A,"">CDKN2A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/WWOX,"">WWOX,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FAS)"">FAS)</a>
 著者        McCabe ML, Dlamini Z.
 タイトル      The molecular mechanisms of oesophageal cancer.
 雑誌        Int Immunopharmacol 5:1113-30 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.intimp.2004.11.017"">10.1016/j.intimp.2004.11.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8187090"">8187090</a> (DCC)
 著者        Miyake S, Nagai K, Yoshino K, Oto M, Endo M, Yuasa Y
 タイトル      Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis.
 雑誌        Cancer Res 54:3007-10 (1994)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11504921"">11504921</a> (LZTS1)
 著者        Ishii H, Vecchione A, Murakumo Y, Baldassarre G, Numata S, Trapasso F, Alder H, Baffa R, Croce CM
 タイトル      FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis.
 雑誌        Proc Natl Acad Sci U S A 98:10374-9 (2001)
 DOI:<a href=""https://doi.org/10.1073/pnas.181222898"">10.1073/pnas.181222898</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12154016"">12154016</a> (RNF6)
 著者        Lo HS, Hu N, Gere S, Lu N, Su H, Goldstein AM, Taylor PR, Lee MP
 タイトル      Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma.
 雑誌        Cancer Res 62:4191-3 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10789724"">10789724</a> (TGFBR2)
 著者        Tanaka S, Mori M, Mafune K, Ohno S, Sugimachi K
 タイトル      A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.
 雑誌        Br J Cancer 82:1557-60 (2000)
 DOI:<a href=""https://doi.org/10.1054/bjoc.1999.1178"">10.1054/bjoc.1999.1178</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11956080"">11956080</a> (WWOX)
 著者        Kuroki T, Trapasso F, Shiraishi T, Alder H, Mimori K, Mori M, Croce CM
 タイトル      Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.
 雑誌        Cancer Res 62:2258-60 (2002)"
H00018,胃癌,,,"Gastric cancer (GC) is one of the world's most common cancers. According to Lauren's histological classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse types. Several genetic changes have been identified in intestinal-type GC. The intestinal metaplasia is characterized by mutations in p53 gene, reduced expression of retinoic acid receptor beta (RAR-beta) and hTERT expression. Gastric adenomas furthermore display mutations in the APC gene, reduced p27 expression and cyclin E amplification. In addition, amplification and overexpression of c-ErbB2, reduced TGF-beta receptor type I (TGFBRI) expression and complete loss of p27 expression are commonly observed in more advanced GC. The main molecular changes observed in diffuse-type GCs include loss of E-cadherin function by mutations in CDH1and amplification of MET and FGFR2F.",がん,nt06261  Gastric cancer,"CDX2 (overexpression) [HSA:1045] [KO:K22234]
 TERT (overexpression) [HSA:7015] [KO:K11126]
 RARB (reduced expression) [HSA:5915] [KO:K08528]
 CDKN1B (reduced expression) [HSA:1027] [KO:K06624]
 TGFBR1 (reduced expression) [HSA:7046] [KO:K04674]
 ERBB2 (amplification) [HSA:2064] [KO:K05083]
 CCNE1 (amplification) [HSA:898] [KO:K06626]
 MET (amplification) [HSA:4233] [KO:K05099]
 FGFR2 (amplification) [HSA:2263] [KO:K05093]
 MLH1 (methylation) [HSA:4292] [KO:K08734]
 TP53 [HSA:7157] [KO:K04451]
 APC [HSA:324] [KO:K02085]
 CTNNB1 [HSA:1499] [KO:K02105]
 KRAS [HSA:3845] [KO:K07827]
 NRAS [HSA:4893] [KO:K07828]
 CDH1 [HSA:999] [KO:K05689]
 MUTYH [HSA:4595] [KO:K03575]
 PIK3CA [HSA:5290] [KO:K00922]",,,"Benzo[a]pyrene [CPD:C07535]
 病原体         Helicobacter pylori (infection with)","レボホリナートカルシウム [DR:D04715]
 メトトレキサート [DR:D00142]
 シクロホスファミド水和物 [DR:D00287]
 ニムスチン塩酸塩 [DR:D01059]
 フルオロウラシル [DR:D00584]
 テガフール [DR:D01244]
 カペシタビン [DR:D01223]
 ドキシフルリジン [DR:D01309]
 シタラビン [DR:D00168]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 イリノテカン塩酸塩水和物 [DR:D01061]
 トラスツズマブ [DR:D03257] (HER2過剰発現)
 トラスツズマブデルクステカン [DR:D11529] (HER2陽性)
 ニボルマブ [DR:D10316]
 ラムシルマブ [DR:D09371]
 シスプラチン [DR:D00275]
 オキサリプラチン [DR:D01790]
 トリフルリジン・チピラシル塩酸塩 [DR:D10526]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2B72.0
 ICD-10: C16
 MeSH: D013274
 OMIM: 613659","PMID:11315254 (ERBB2, MET, FGFR2, TP53, APC, CTNNB1, KRAS, CDH1)
 著者        Werner M, Becker KF, Keller G, Hofler H.
 タイトル      Gastric adenocarcinoma: pathomorphology and molecular pathology.
 雑誌        J Cancer Res Clin Oncol 127:207-16 (2001)
 DOI:10.1007/s004320000195
 PMID:15224192 (CDX2, ERBB2, MET, FGFR2, TP53, APC, CTNNB1, KRAS, CDH1)
 著者        Zheng L, Wang L, Ajani J, Xie K.
 タイトル      Molecular basis of gastric cancer development and progression.
 雑誌        Gastric Cancer 7:61-77 (2004)
 DOI:10.1007/s10120-004-0277-4
 PMID:26073375 (CDX2, TERT, ERBB2, CCNE1, MET, FGFR2, MLH1, TP53, APC, CTNNB1, KRAS, NRAS, CDH1, PIK3CA)
 著者        Tan P, Yeoh KG
 タイトル      Genetics and Molecular Pathogenesis of Gastric Adenocarcinoma.
 雑誌        Gastroenterology 149:1153-1162.e3 (2015)
 DOI:10.1053/j.gastro.2015.05.059
 PMID:26267324 (CDKN1B, TGFBR1)
 著者        Riquelme I, Saavedra K, Espinoza JA, Weber H, Garcia P, Nervi B, Garrido M, Corvalan AH, Roa JC, Bizama C
 タイトル      Molecular classification of gastric cancer: Towards a pathway-driven targeted therapy.
 雑誌        Oncotarget 6:24750-79 (2015)
 DOI:10.18632/oncotarget.4990
 PMID:16154715
 著者        Stock M, Otto F
 タイトル      Gene deregulation in gastric cancer.
 雑誌        Gene 360:1-19 (2005)
 DOI:10.1016/j.gene.2005.06.026
 PMID:18381231
 著者        Panani AD
 タイトル      Cytogenetic and molecular aspects of gastric cancer: clinical implications.
 雑誌        Cancer Lett 266:99-115 (2008)
 DOI:10.1016/j.canlet.2008.02.053
 PMID:16997151
 著者        Vauhkonen M, Vauhkonen H, Sipponen P
 タイトル      Pathology and molecular biology of gastric cancer.
 雑誌        Best Pract Res Clin Gastroenterol 20:651-74 (2006)
 DOI:10.1016/j.bpg.2006.03.016
 PMID:15273732 (MUTYH)
 著者        Kim CJ, Cho YG, Park CH, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS
 タイトル      Genetic alterations of the MYH gene in gastric cancer.
 雑誌        Oncogene 23:6820-2 (2004)
 DOI:10.1038/sj.onc.1207574
 PMID:15608678 (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:10.1038/sj.onc.1208304","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00018"">H00018</a>",胃癌,"Gastric cancer (GC) is one of the world's most common cancers. According to Lauren's histological classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse types. Several genetic changes have been identified in intestinal-type GC. The intestinal metaplasia is characterized by mutations in p53 gene, reduced expression of retinoic acid receptor beta (RAR-beta) and hTERT expression. Gastric adenomas furthermore display mutations in the APC gene, reduced p27 expression and cyclin E amplification. In addition, amplification and overexpression of c-ErbB2, reduced TGF-beta receptor type I (TGFBRI) expression and complete loss of p27 expression are commonly observed in more advanced GC. The main molecular changes observed in diffuse-type GCs include loss of E-cadherin function by mutations in CDH1and amplification of MET and FGFR2F.","<a href=""https://www.kegg.jp/network/nt06261"">nt06261</a>  Gastric cancer","CDX2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1045"">1045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22234"">K22234</a>]
 TERT (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 RARB (reduced expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5915"">5915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08528"">K08528</a>]
 CDKN1B (reduced expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1027"">1027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06624"">K06624</a>]
 TGFBR1 (reduced expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7046"">7046</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04674"">K04674</a>]
 ERBB2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 CCNE1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:898"">898</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06626"">K06626</a>]
 MET (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 FGFR2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]
 MLH1 (methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 CDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]
 MUTYH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4595"">4595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03575"">K03575</a>]
 PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]",,,"Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 病原体         Helicobacter pylori (infection with)","レボホリナートカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04715"">D04715</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 テガフール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01244"">D01244</a>]
 カペシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01223"">D01223</a>]
 ドキシフルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01309"">D01309</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 トラスツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03257"">D03257</a>] (HER2過剰発現)
 トラスツズマブデルクステカン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11529"">D11529</a>] (HER2陽性)
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ラムシルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09371"">D09371</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 オキサリプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01790"">D01790</a>]
 トリフルリジン・チピラシル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10526"">D10526</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2B72.0
 ICD-10: C16
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013274"">D013274</a>
 OMIM: <a href=""https://www.omim.org/entry/613659"">613659</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11315254"">11315254</a> (ERBB2, <a href=""https://pubmed.ncbi.nlm.nih.gov/MET,"">MET,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2,"">FGFR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDH1)"">CDH1)</a>
 著者        Werner M, Becker KF, Keller G, Hofler H.
 タイトル      Gastric adenocarcinoma: pathomorphology and molecular pathology.
 雑誌        J Cancer Res Clin Oncol 127:207-16 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004320000195"">10.1007/s004320000195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15224192"">15224192</a> (CDX2, <a href=""https://pubmed.ncbi.nlm.nih.gov/ERBB2,"">ERBB2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MET,"">MET,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2,"">FGFR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDH1)"">CDH1)</a>
 著者        Zheng L, Wang L, Ajani J, Xie K.
 タイトル      Molecular basis of gastric cancer development and progression.
 雑誌        Gastric Cancer 7:61-77 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10120-004-0277-4"">10.1007/s10120-004-0277-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26073375"">26073375</a> (CDX2, <a href=""https://pubmed.ncbi.nlm.nih.gov/TERT,"">TERT,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ERBB2,"">ERBB2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCNE1,"">CCNE1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MET,"">MET,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2,"">FGFR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MLH1,"">MLH1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NRAS,"">NRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDH1,"">CDH1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PIK3CA)"">PIK3CA)</a>
 著者        Tan P, Yeoh KG
 タイトル      Genetics and Molecular Pathogenesis of Gastric Adenocarcinoma.
 雑誌        Gastroenterology 149:1153-1162.e3 (2015)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2015.05.059"">10.1053/j.gastro.2015.05.059</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26267324"">26267324</a> (CDKN1B, <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFBR1)"">TGFBR1)</a>
 著者        Riquelme I, Saavedra K, Espinoza JA, Weber H, Garcia P, Nervi B, Garrido M, Corvalan AH, Roa JC, Bizama C
 タイトル      Molecular classification of gastric cancer: Towards a pathway-driven targeted therapy.
 雑誌        Oncotarget 6:24750-79 (2015)
 DOI:<a href=""https://doi.org/10.18632/oncotarget.4990"">10.18632/oncotarget.4990</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16154715"">16154715</a>
 著者        Stock M, Otto F
 タイトル      Gene deregulation in gastric cancer.
 雑誌        Gene 360:1-19 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2005.06.026"">10.1016/j.gene.2005.06.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18381231"">18381231</a>
 著者        Panani AD
 タイトル      Cytogenetic and molecular aspects of gastric cancer: clinical implications.
 雑誌        Cancer Lett 266:99-115 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2008.02.053"">10.1016/j.canlet.2008.02.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16997151"">16997151</a>
 著者        Vauhkonen M, Vauhkonen H, Sipponen P
 タイトル      Pathology and molecular biology of gastric cancer.
 雑誌        Best Pract Res Clin Gastroenterol 20:651-74 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bpg.2006.03.016"">10.1016/j.bpg.2006.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15273732"">15273732</a> (MUTYH)
 著者        Kim CJ, Cho YG, Park CH, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS
 タイトル      Genetic alterations of the MYH gene in gastric cancer.
 雑誌        Oncogene 23:6820-2 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1207574"">10.1038/sj.onc.1207574</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15608678"">15608678</a> (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1208304"">10.1038/sj.onc.1208304</a>"
H00019,"膵癌
 上位グループ    固形腫瘍 [DS:H02421]",,,"Infiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA). Normal duct epithelium progresses to infiltrating cancer through a series of histologically defined precursors (PanINs). The overexpression of HER-2/neu and activating point mutations in the K-ras gene occur early, inactivation of the p16 gene at an intermediate stage, and the inactivation of p53, SMAD4, and BRCA2 occur relatively late. Activated K-ras engages multiple effector pathways. Although EGF receptors are conventionally regarded as upstream activators of RAS proteins, they can also act as RAS signal transducers via RAS-induced autocrine activation of the EGFR family ligands. Moreover, PDA shows extensive genomic instability and aneuploidy. Telomere attrition and mutations in p53 and BRCA2 are likely to contribute to these phenotypes. Inactivation of the SMAD4 tumour suppressor gene leads to loss of the inhibitory influence of the transforming growth factor-beta signalling pathway.",がん,nt06262  Pancreatic cancer,"KRAS [HSA:3845] [KO:K07827]
 TP53 [HSA:7157] [KO:K04451]
 SMAD4 [HSA:4089] [KO:K04501]
 STK11 [HSA:6794] [KO:K07298]
 ERBB2 (overexpression) [HSA:2064] [KO:K05083]
 CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
 (PNCA1) PALLD [HSA:23022] [KO:K22029]
 (PNCA2) BRCA2 [HSA:675] [KO:K08775]
 (PNCA3) PALB2 [HSA:79728] [KO:K10897]
 (PNCA4) BRCA1 [HSA:672] [KO:K10605]
 (PNCA5) RABL3 [HSA:285282] [KO:K07933]",,,Tobacco smoking and tobacco smoke,"レボホリナートカルシウム [DR:D04715]
 シクロホスファミド水和物 [DR:D00287]
 フルオロウラシル [DR:D00584]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 パクリタキセル [DR:D00491]
 イリノテカン塩酸塩水和物 [DR:D01061]
 エルロチニブ塩酸塩 [DR:D04023]
 オキサリプラチン [DR:D01790]
 オラパリブ [DR:D09730] (BRCA遺伝子変異陽性)",,"ICD-11: 2C10.0
 ICD-10: C25
 MeSH: D010190
 OMIM: 606856 613347 613348 614320 618680","PMID:12459728 (KRAS, TP53, SMAD4, STK11, ERBB2, CDKN2A, BRCA2)
 著者        Bardeesy N, DePinho RA.
 タイトル      Pancreatic cancer biology and genetics.
 雑誌        Nat Rev Cancer 2:897-909 (2002)
 DOI:10.1038/nrc949
 PMID:16702400
 著者        Hezel AF, Kimmelman AC, Stanger BZ, Bardeesy N, Depinho RA.
 タイトル      Genetics and biology of pancreatic ductal adenocarcinoma.
 雑誌        Genes Dev 20:1218-49 (2006)
 DOI:10.1101/gad.1415606
 PMID:11407945
 著者        Bardeesy N, Sharpless NE, DePinho RA, Merlino G.
 タイトル      The genetics of pancreatic adenocarcinoma: a roadmap for a mouse model.
 雑誌        Semin Cancer Biol 11:201-18 (2001)
 DOI:10.1006/scbi.2000.0371
 PMID:10955772
 著者        Hruban RH, Goggins M, Parsons J, Kern SE.
 タイトル      Progression model for pancreatic cancer.
 雑誌        Clin Cancer Res 6:2969-72 (2000)
 PMID:17194196 (PALLD)
 著者        Pogue-Geile KL, Chen R, Bronner MP, Crnogorac-Jurcevic T, Moyes KW, Dowen S, Otey CA, Crispin DA, George RD, Whitcomb DC, Brentnall TA
 タイトル      Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism.
 雑誌        PLoS Med 3:e516 (2006)
 DOI:10.1371/journal.pmed.0030516
 PMID:19264984 (PALB2)
 著者        Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP
 タイトル      Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
 雑誌        Science 324:217 (2009)
 DOI:10.1126/science.1171202
 PMID:18762988 (BRCA1)
 著者        Al-Sukhni W, Rothenmund H, Borgida AE, Zogopoulos G, O'Shea AM, Pollett A, Gallinger S
 タイトル      Germline BRCA1 mutations predispose to pancreatic adenocarcinoma.
 雑誌        Hum Genet 124:271-8 (2008)
 DOI:10.1007/s00439-008-0554-0
 PMID:31406347 (RABL3)
 著者        Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W
 タイトル      Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
 雑誌        Nat Genet 51:1308-1314 (2019)
 DOI:10.1038/s41588-019-0475-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00019"">H00019</a>","膵癌
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Infiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA). Normal duct epithelium progresses to infiltrating cancer through a series of histologically defined precursors (PanINs). The overexpression of HER-2/neu and activating point mutations in the K-ras gene occur early, inactivation of the p16 gene at an intermediate stage, and the inactivation of p53, SMAD4, and BRCA2 occur relatively late. Activated K-ras engages multiple effector pathways. Although EGF receptors are conventionally regarded as upstream activators of RAS proteins, they can also act as RAS signal transducers via RAS-induced autocrine activation of the EGFR family ligands. Moreover, PDA shows extensive genomic instability and aneuploidy. Telomere attrition and mutations in p53 and BRCA2 are likely to contribute to these phenotypes. Inactivation of the SMAD4 tumour suppressor gene leads to loss of the inhibitory influence of the transforming growth factor-beta signalling pathway.","<a href=""https://www.kegg.jp/network/nt06262"">nt06262</a>  Pancreatic cancer","KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 SMAD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4089"">4089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04501"">K04501</a>]
 STK11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6794"">6794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07298"">K07298</a>]
 ERBB2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 CDKN2A (mutation, deletion, promoter methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 (PNCA1) PALLD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23022"">23022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22029"">K22029</a>]
 (PNCA2) BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 (PNCA3) PALB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79728"">79728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10897"">K10897</a>]
 (PNCA4) BRCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 (PNCA5) RABL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285282"">285282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07933"">K07933</a>]",,,Tobacco smoking and tobacco smoke,"レボホリナートカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04715"">D04715</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 エルロチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04023"">D04023</a>]
 オキサリプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01790"">D01790</a>]
 オラパリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09730"">D09730</a>] (BRCA遺伝子変異陽性)",,"ICD-11: 2C10.0
 ICD-10: C25
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010190"">D010190</a>
 OMIM: <a href=""https://www.omim.org/entry/606856"">606856</a> <a href=""https://www.omim.org/entry/613347"">613347</a> <a href=""https://www.omim.org/entry/613348"">613348</a> <a href=""https://www.omim.org/entry/614320"">614320</a> <a href=""https://www.omim.org/entry/618680"">618680</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12459728"">12459728</a> (KRAS, <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SMAD4,"">SMAD4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/STK11,"">STK11,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ERBB2,"">ERBB2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDKN2A,"">CDKN2A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BRCA2)"">BRCA2)</a>
 著者        Bardeesy N, DePinho RA.
 タイトル      Pancreatic cancer biology and genetics.
 雑誌        Nat Rev Cancer 2:897-909 (2002)
 DOI:<a href=""https://doi.org/10.1038/nrc949"">10.1038/nrc949</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16702400"">16702400</a>
 著者        Hezel AF, Kimmelman AC, Stanger BZ, Bardeesy N, Depinho RA.
 タイトル      Genetics and biology of pancreatic ductal adenocarcinoma.
 雑誌        Genes Dev 20:1218-49 (2006)
 DOI:<a href=""https://doi.org/10.1101/gad.1415606"">10.1101/gad.1415606</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11407945"">11407945</a>
 著者        Bardeesy N, Sharpless NE, DePinho RA, Merlino G.
 タイトル      The genetics of pancreatic adenocarcinoma: a roadmap for a mouse model.
 雑誌        Semin Cancer Biol 11:201-18 (2001)
 DOI:<a href=""https://doi.org/10.1006/scbi.2000.0371"">10.1006/scbi.2000.0371</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10955772"">10955772</a>
 著者        Hruban RH, Goggins M, Parsons J, Kern SE.
 タイトル      Progression model for pancreatic cancer.
 雑誌        Clin Cancer Res 6:2969-72 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17194196"">17194196</a> (PALLD)
 著者        Pogue-Geile KL, Chen R, Bronner MP, Crnogorac-Jurcevic T, Moyes KW, Dowen S, Otey CA, Crispin DA, George RD, Whitcomb DC, Brentnall TA
 タイトル      Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism.
 雑誌        PLoS Med 3:e516 (2006)
 DOI:<a href=""https://doi.org/10.1371/journal.pmed.0030516"">10.1371/journal.pmed.0030516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19264984"">19264984</a> (PALB2)
 著者        Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP
 タイトル      Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
 雑誌        Science 324:217 (2009)
 DOI:<a href=""https://doi.org/10.1126/science.1171202"">10.1126/science.1171202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18762988"">18762988</a> (BRCA1)
 著者        Al-Sukhni W, Rothenmund H, Borgida AE, Zogopoulos G, O'Shea AM, Pollett A, Gallinger S
 タイトル      Germline BRCA1 mutations predispose to pancreatic adenocarcinoma.
 雑誌        Hum Genet 124:271-8 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00439-008-0554-0"">10.1007/s00439-008-0554-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31406347"">31406347</a> (RABL3)
 著者        Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W
 タイトル      Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
 雑誌        Nat Genet 51:1308-1314 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41588-019-0475-y"">10.1038/s41588-019-0475-y</a>"
H00020,"結腸・直腸癌;
 大腸癌
 下位グループ    Familial adenomatous polyposis [DS:H01025]
 遺伝性非ポリポーシス大腸癌 (HNPCC) [DS:H02565]
 ポリメラーゼ校正関連ポリポーシス (PPAP) [DS:H02568]
 上位グループ    固形腫瘍 [DS:H02421]",,,"Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in sporadic CRC progression. The first, known as chromosomal instability (CIN), results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch repair genes MLH1 and/or MSH2 by hypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour suppressor gene APC on chromosome 5q in FAP, mutated DNA mismatch repair genes in HNPCC).",がん,nt06260  Colorectal cancer,"(HNPCC) MLH1 [HSA:4292] [KO:K08734]
 (HNPCC) MLH3 [HSA:27030] [KO:K08739]
 (HNPCC) MSH2 [HSA:4436] [KO:K08735]
 (HNPCC) MSH6 [HSA:2956] [KO:K08737]
 (HNPCC) TGFBR2 [HSA:7048] [KO:K04388]
 (FAP) APC [HSA:324] [KO:K02085]
 (FAP) MSH3 [HSA:4437] [KO:K08736]
 (PPAP) POLD1 [HSA:5424] [KO:K02327]
 (PPAP) POLE [HSA:5426] [KO:K02324]
 DCC [HSA:1630] [KO:K06765]
 KRAS [HSA:3845] [KO:K07827]
 GALNT12 [HSA:79695] [KO:K00710]
 SMAD7 [HSA:4092] [KO:K19631]
 SMAD4 [HSA:4089] [KO:K04501]
 SMAD2 [HSA:4087] [KO:K04500]
 BAX [HSA:581] [KO:K02159]
 AXIN2 [HSA:8313] [KO:K04385]
 BRAF [HSA:673] [KO:K04365]
 CCND1 [HSA:595] [KO:K04503]
 CHEK2 [HSA:11200] [KO:K06641]
 CTNNB1 [HSA:1499] [KO:K02105]
 FLCN [HSA:201163] [KO:K09594]
 PIK3CA [HSA:5290] [KO:K00922]
 TP53 [HSA:7157] [KO:K04451]
 EGF (overexpression) [HSA:1950] [KO:K04357]
 TGFA (overexpression) [HSA:7039] [KO:K08774]
 EREG (overexpression) [HSA:2069] [KO:K09784]
 AREG (overexpression) [HSA:374] [KO:K09782]",,,"Mineral oils, untreated and mildly treated
 X- and gamma-radiation","ホリナートカルシウム [DR:D01211]
 レボホリナートカルシウム [DR:D04715]
 シクロホスファミド水和物 [DR:D00287]
 ニムスチン塩酸塩 [DR:D01059]
 フルオロウラシル [DR:D00584]
 テガフール [DR:D01244]
 カペシタビン [DR:D01223]
 ドキシフルリジン [DR:D01309]
 シタラビン [DR:D00168]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 イリノテカン塩酸塩水和物 [DR:D01061]
 エンコラフェニブ [DR:D11053] (BRAF遺伝子変異陽性)
 ビニメチニブ [DR:D10604] (BRAF遺伝子変異陽性)
 レゴラフェニブ水和物 [DR:D10137]
 トラスツズマブ [DR:D03257] (HER2陽性)
 ペルツズマブ [DR:D05446] (HER2陽性)
 セツキシマブ [DR:D03455] (RAS遺伝子野生型)
 パニツムマブ [DR:D05350] (KRAS野生型)
 ニボルマブ [DR:D10316] (MSI-High)
 ペムブロリズマブ [DR:D10574] (MSI-High)
 ベバシズマブ [DR:D06409]
 ラムシルマブ [DR:D09371]
 イピリムマブ [DR:D04603] (MSI-High)
 オキサリプラチン [DR:D01790]
 アフリベルセプトベータ [DR:D10819]
 トリフルリジン・チピラシル塩酸塩 [DR:D10526]",,"ICD-11: 2B90 2B91 2B92
 ICD-10: C18 C19 C20
 MeSH: D015179
 OMIM: 114500 608812 612229","PMID:11477132
 著者        Houlston RS.
 タイトル      What we could do now: molecular pathology of colorectal cancer.
 雑誌        Mol Pathol 54:206-14 (2001)
 DOI:10.1136/mp.54.4.206
 PMID:12621137
 著者        Lynch HT, de la Chapelle A.
 タイトル      Hereditary colorectal cancer.
 雑誌        N Engl J Med 348:919-32 (2003)
 DOI:10.1056/NEJMra012242
 PMID:15000146 (TP53, APC, MSH3, MSH6, CTNNB1, KRAS, TGFBR2, BAX)
 著者        Grady WM.
 タイトル      Genomic instability and colon cancer.
 雑誌        Cancer Metastasis Rev 23:11-27 (2004)
 DOI:10.1023/A:1025861527711
 PMID:16555243 (DCC, SMAD2/4, TP53, APC, MLH1, MSH2, MSH6, CTNNB1, KRAS, TGFBR2, BAX)
 著者        Soreide K, Janssen EA, Soiland H, Korner H, Baak JP.
 タイトル      Microsatellite instability in colorectal cancer.
 雑誌        Br J Surg 93:395-406 (2006)
 DOI:10.1002/bjs.5328
 PMID:15310786 (DCC)
 著者        Mehlen P, Fearon ER.
 タイトル      Role of the dependence receptor DCC in colorectal cancer pathogenesis.
 雑誌        J Clin Oncol 22:3420-8 (2004)
 DOI:10.1200/JCO.2004.02.019
 PMID:19617566 (GALNT12)
 著者        Guda K, Moinova H, He J, Jamison O, Ravi L, Natale L, Lutterbaugh J, Lawrence E, Lewis S, Willson JK, Lowe JB, Wiesner GL, Parmigiani G, Barnholtz-Sloan J, Dawson DW, Velculescu VE, Kinzler KW, Papadopoulos N, Vogelstein B, Willis J, Gerken TA, Markowitz SD
 タイトル      Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
 雑誌        Proc Natl Acad Sci U S A 106:12921-5 (2009)
 DOI:10.1073/pnas.0901454106
 PMID:17934461 (SNAD7)
 著者        Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS
 タイトル      A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
 雑誌        Nat Genet 39:1315-7 (2007)
 DOI:10.1038/ng.2007.18
 PMID:26133394 (POLE, POLD1)
 著者        Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L
 タイトル      POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
 雑誌        Genet Med 18:325-32 (2016)
 DOI:10.1038/gim.2015.75
 PMID:7912978
 著者        Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H
 タイトル      Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues.
 雑誌        Pathol Int 44:124-30 (1994)
 DOI:10.1111/j.1440-1827.1994.tb01696.x
 PMID:11017067 (AXIN2)
 著者        Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN
 タイトル      Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.
 雑誌        Nat Genet 26:146-7 (2000)
 DOI:10.1038/79859
 PMID:12198537 (BRAF, KRAS)
 著者        Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE
 タイトル      Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
 雑誌        Nature 418:934 (2002)
 DOI:10.1038/418934a
 PMID:10667569 (CCND1)
 著者        Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML
 タイトル      Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer.
 雑誌        Cancer Res 60:249-52 (2000)
 PMID:12690581 (CHEK2)
 著者        Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M
 タイトル      The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
 雑誌        Am J Hum Genet 72:1308-14 (2003)
 DOI:10.1086/375121
 PMID:12843323 (FLCN)
 著者        Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT
 タイトル      Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.
 雑誌        J Med Genet 40:511-5 (2003)
 DOI:10.1136/jmg.40.7.511
 PMID:11317354 (MLH3)
 著者        Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS
 タイトル      Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
 雑誌        Hum Mutat 17:389-96 (2001)
 DOI:10.1002/humu.1114
 PMID:15016963 (PIK3CA)
 著者        Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE
 タイトル      High frequency of mutations of the PIK3CA gene in human cancers.
 雑誌        Science 304:554 (2004)
 DOI:10.1126/science.1096502
 PMID:21139621 (EGF, TGFA, EREG, AREG)
 著者        Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T
 タイトル      Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer.
 雑誌        Br J Cancer 103:1765-72 (2010)
 DOI:10.1038/sj.bjc.6606008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>","結腸・直腸癌;
 大腸癌
 下位グループ    Familial adenomatous polyposis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01025"">H01025</a>]
 遺伝性非ポリポーシス大腸癌 (HNPCC) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02565"">H02565</a>]
 ポリメラーゼ校正関連ポリポーシス (PPAP) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02568"">H02568</a>]
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in sporadic CRC progression. The first, known as chromosomal instability (CIN), results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch repair genes MLH1 and/or MSH2 by hypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour suppressor gene APC on chromosome 5q in FAP, mutated DNA mismatch repair genes in HNPCC).","<a href=""https://www.kegg.jp/network/nt06260"">nt06260</a>  Colorectal cancer","(HNPCC) MLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 (HNPCC) MLH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27030"">27030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08739"">K08739</a>]
 (HNPCC) MSH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4436"">4436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08735"">K08735</a>]
 (HNPCC) MSH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2956"">2956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08737"">K08737</a>]
 (HNPCC) TGFBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 (FAP) APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 (FAP) MSH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4437"">4437</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08736"">K08736</a>]
 (PPAP) POLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5424"">5424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02327"">K02327</a>]
 (PPAP) POLE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5426"">5426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02324"">K02324</a>]
 DCC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1630"">1630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06765"">K06765</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 GALNT12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79695"">79695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00710"">K00710</a>]
 SMAD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4092"">4092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19631"">K19631</a>]
 SMAD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4089"">4089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04501"">K04501</a>]
 SMAD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4087"">4087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04500"">K04500</a>]
 BAX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:581"">581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02159"">K02159</a>]
 AXIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8313"">8313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04385"">K04385</a>]
 BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 CCND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 CHEK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11200"">11200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06641"">K06641</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 FLCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201163"">201163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09594"">K09594</a>]
 PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 EGF (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1950"">1950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04357"">K04357</a>]
 TGFA (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7039"">7039</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08774"">K08774</a>]
 EREG (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2069"">2069</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09784"">K09784</a>]
 AREG (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374"">374</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09782"">K09782</a>]",,,"Mineral oils, untreated and mildly treated
 X- and gamma-radiation","ホリナートカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01211"">D01211</a>]
 レボホリナートカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04715"">D04715</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 テガフール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01244"">D01244</a>]
 カペシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01223"">D01223</a>]
 ドキシフルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01309"">D01309</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 エンコラフェニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11053"">D11053</a>] (BRAF遺伝子変異陽性)
 ビニメチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10604"">D10604</a>] (BRAF遺伝子変異陽性)
 レゴラフェニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10137"">D10137</a>]
 トラスツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03257"">D03257</a>] (HER2陽性)
 ペルツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05446"">D05446</a>] (HER2陽性)
 セツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03455"">D03455</a>] (RAS遺伝子野生型)
 パニツムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05350"">D05350</a>] (KRAS野生型)
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>] (MSI-High)
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>] (MSI-High)
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 ラムシルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09371"">D09371</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>] (MSI-High)
 オキサリプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01790"">D01790</a>]
 アフリベルセプトベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10819"">D10819</a>]
 トリフルリジン・チピラシル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10526"">D10526</a>]",,"ICD-11: 2B90 2B91 2B92
 ICD-10: C18 C19 C20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015179"">D015179</a>
 OMIM: <a href=""https://www.omim.org/entry/114500"">114500</a> <a href=""https://www.omim.org/entry/608812"">608812</a> <a href=""https://www.omim.org/entry/612229"">612229</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11477132"">11477132</a>
 著者        Houlston RS.
 タイトル      What we could do now: molecular pathology of colorectal cancer.
 雑誌        Mol Pathol 54:206-14 (2001)
 DOI:<a href=""https://doi.org/10.1136/mp.54.4.206"">10.1136/mp.54.4.206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12621137"">12621137</a>
 著者        Lynch HT, de la Chapelle A.
 タイトル      Hereditary colorectal cancer.
 雑誌        N Engl J Med 348:919-32 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMra012242"">10.1056/NEJMra012242</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15000146"">15000146</a> (TP53, <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MSH3,"">MSH3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MSH6,"">MSH6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFBR2,"">TGFBR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BAX)"">BAX)</a>
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 タイトル      Genomic instability and colon cancer.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16555243"">16555243</a> (DCC, <a href=""https://pubmed.ncbi.nlm.nih.gov/SMAD2/4,"">SMAD2/4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APC,"">APC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MLH1,"">MLH1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MSH2,"">MSH2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MSH6,"">MSH6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFBR2,"">TGFBR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BAX)"">BAX)</a>
 著者        Soreide K, Janssen EA, Soiland H, Korner H, Baak JP.
 タイトル      Microsatellite instability in colorectal cancer.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15310786"">15310786</a> (DCC)
 著者        Mehlen P, Fearon ER.
 タイトル      Role of the dependence receptor DCC in colorectal cancer pathogenesis.
 雑誌        J Clin Oncol 22:3420-8 (2004)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19617566"">19617566</a> (GALNT12)
 著者        Guda K, Moinova H, He J, Jamison O, Ravi L, Natale L, Lutterbaugh J, Lawrence E, Lewis S, Willson JK, Lowe JB, Wiesner GL, Parmigiani G, Barnholtz-Sloan J, Dawson DW, Velculescu VE, Kinzler KW, Papadopoulos N, Vogelstein B, Willis J, Gerken TA, Markowitz SD
 タイトル      Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
 雑誌        Proc Natl Acad Sci U S A 106:12921-5 (2009)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17934461"">17934461</a> (SNAD7)
 著者        Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS
 タイトル      A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
 雑誌        Nat Genet 39:1315-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.18"">10.1038/ng.2007.18</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26133394"">26133394</a> (POLE, <a href=""https://pubmed.ncbi.nlm.nih.gov/POLD1)"">POLD1)</a>
 著者        Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L
 タイトル      POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
 雑誌        Genet Med 18:325-32 (2016)
 DOI:<a href=""https://doi.org/10.1038/gim.2015.75"">10.1038/gim.2015.75</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7912978"">7912978</a>
 著者        Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H
 タイトル      Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues.
 雑誌        Pathol Int 44:124-30 (1994)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1827.1994.tb01696.x"">10.1111/j.1440-1827.1994.tb01696.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11017067"">11017067</a> (AXIN2)
 著者        Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN
 タイトル      Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.
 雑誌        Nat Genet 26:146-7 (2000)
 DOI:<a href=""https://doi.org/10.1038/79859"">10.1038/79859</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12198537"">12198537</a> (BRAF, <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS)"">KRAS)</a>
 著者        Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE
 タイトル      Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
 雑誌        Nature 418:934 (2002)
 DOI:<a href=""https://doi.org/10.1038/418934a"">10.1038/418934a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10667569"">10667569</a> (CCND1)
 著者        Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML
 タイトル      Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer.
 雑誌        Cancer Res 60:249-52 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12690581"">12690581</a> (CHEK2)
 著者        Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M
 タイトル      The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
 雑誌        Am J Hum Genet 72:1308-14 (2003)
 DOI:<a href=""https://doi.org/10.1086/375121"">10.1086/375121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12843323"">12843323</a> (FLCN)
 著者        Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT
 タイトル      Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.
 雑誌        J Med Genet 40:511-5 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.7.511"">10.1136/jmg.40.7.511</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11317354"">11317354</a> (MLH3)
 著者        Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS
 タイトル      Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
 雑誌        Hum Mutat 17:389-96 (2001)
 DOI:<a href=""https://doi.org/10.1002/humu.1114"">10.1002/humu.1114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15016963"">15016963</a> (PIK3CA)
 著者        Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE
 タイトル      High frequency of mutations of the PIK3CA gene in human cancers.
 雑誌        Science 304:554 (2004)
 DOI:<a href=""https://doi.org/10.1126/science.1096502"">10.1126/science.1096502</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21139621"">21139621</a> (EGF, <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFA,"">TGFA,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/EREG,"">EREG,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/AREG)"">AREG)</a>
 著者        Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T
 タイトル      Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer.
 雑誌        Br J Cancer 103:1765-72 (2010)
 DOI:<a href=""https://doi.org/10.1038/sj.bjc.6606008"">10.1038/sj.bjc.6606008</a>"
H00021,腎細胞癌,,,"Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC.",がん,nt06264  Renal cell carcinoma,"PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
 VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
 MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
 FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
 FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
 HNF1A [HSA:6927] [KO:K08036]
 OGG1 [HSA:4968] [KO:K03660]
 PBRM1 [HSA:55193] [KO:K11757]",,,"Aluminium production
 Cadmium and cadmium compounds
 Chimney sweeping
 Radium-224 and its decay products
 Shale-oils
 Tobacco smoking and tobacco smoke","エベロリムス [DR:D02714]
 テムシロリムス [DR:D06068]
 アキシチニブ [DR:D03218]
 スニチニブリンゴ酸塩 [DR:D06402]
 ソラフェニブトシル酸塩 [DR:D06272]
 パゾパニブ塩酸塩 [DR:D05380]
 カボザンチニブリンゴ酸塩 [DR:D10095]
 レンバチニブメシル酸塩 [DR:D09920]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 アベルマブ [DR:D10817]
 イピリムマブ [DR:D04603]
 インターフェロンアルファ (NAMALWA) [DR:D03305]
 インターフェロンガンマ-1a [DR:D03357]
 テセロイキン [DR:D02749]",,"ICD-11: 2C90.0
 ICD-10: C64
 MeSH: D002292
 OMIM: 144700 300854 605074","PMID:15122209 (VHL, MET, FH, FLCN)
 著者        Pavlovich CP, Schmidt LS.
 タイトル      Searching for the hereditary causes of renal-cell carcinoma.
 雑誌        Nat Rev Cancer 4:381-93 (2004)
 DOI:10.1038/nrc1364
 PMID:16339096
 著者        Cohen HT, McGovern FJ.
 タイトル      Renal-cell carcinoma.
 雑誌        N Engl J Med 353:2477-90 (2005)
 DOI:10.1056/NEJMra043172
 PMID:15380513
 著者        Linehan WM, Zbar B.
 タイトル      Focus on kidney cancer.
 雑誌        Cancer Cell 6:223-8 (2004)
 DOI:10.1016/j.ccr.2004.09.006
 PMID:19406209 (PRCC-TFE3)
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:10.1016/j.bbcan.2009.04.005
 PMID:19233641
 著者        Prensner JR, Chinnaiyan AM
 タイトル      Oncogenic gene fusions in epithelial carcinomas.
 雑誌        Curr Opin Genet Dev 19:82-91 (2009)
 DOI:10.1016/j.gde.2008.11.008
 PMID:15649945 (HNF1A)
 著者        Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J
 タイトル      Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
 雑誌        Hum Mol Genet 14:603-14 (2005)
 DOI:10.1093/hmg/ddi057
 PMID:10987279 (OGG1)
 著者        Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP
 タイトル      Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney.
 雑誌        Cancer Res 60:4740-4 (2000)
 PMID:29301960 (PBRM1)
 著者        Miao D, Margolis CA, Gao W, Voss MH, Li W, Martini DJ, Norton C, Bosse D, Wankowicz SM, Cullen D, Horak C, Wind-Rotolo M, Tracy A, Giannakis M, Hodi FS, Drake CG, Ball MW, Allaf ME, Snyder A, Hellmann MD, Ho T, Motzer RJ, Signoretti S, Kaelin WG Jr, Choueiri TK, Van Allen EM
 タイトル      Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma.
 雑誌        Science 359:801-806 (2018)
 DOI:10.1126/science.aan5951","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00021"">H00021</a>",腎細胞癌,"Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC.","<a href=""https://www.kegg.jp/network/nt06264"">nt06264</a>  Renal cell carcinoma","PRCC-TFE3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5546"">5546</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7030"">7030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13105"">K13105</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09105"">K09105</a>]
 VHL (germline mutation (VHL disease), somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7428"">7428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03871"">K03871</a>]
 MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]
 FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201163"">201163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09594"">K09594</a>]
 HNF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6927"">6927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08036"">K08036</a>]
 OGG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4968"">4968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03660"">K03660</a>]
 PBRM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55193"">55193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11757"">K11757</a>]",,,"Aluminium production
 Cadmium and cadmium compounds
 Chimney sweeping
 Radium-224 and its decay products
 Shale-oils
 Tobacco smoking and tobacco smoke","エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]
 テムシロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06068"">D06068</a>]
 アキシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03218"">D03218</a>]
 スニチニブリンゴ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06402"">D06402</a>]
 ソラフェニブトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06272"">D06272</a>]
 パゾパニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05380"">D05380</a>]
 カボザンチニブリンゴ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10095"">D10095</a>]
 レンバチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09920"">D09920</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 アベルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10817"">D10817</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]
 インターフェロンガンマ-1a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03357"">D03357</a>]
 テセロイキン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02749"">D02749</a>]",,"ICD-11: 2C90.0
 ICD-10: C64
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002292"">D002292</a>
 OMIM: <a href=""https://www.omim.org/entry/144700"">144700</a> <a href=""https://www.omim.org/entry/300854"">300854</a> <a href=""https://www.omim.org/entry/605074"">605074</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15122209"">15122209</a> (VHL, <a href=""https://pubmed.ncbi.nlm.nih.gov/MET,"">MET,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FH,"">FH,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FLCN)"">FLCN)</a>
 著者        Pavlovich CP, Schmidt LS.
 タイトル      Searching for the hereditary causes of renal-cell carcinoma.
 雑誌        Nat Rev Cancer 4:381-93 (2004)
 DOI:<a href=""https://doi.org/10.1038/nrc1364"">10.1038/nrc1364</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16339096"">16339096</a>
 著者        Cohen HT, McGovern FJ.
 タイトル      Renal-cell carcinoma.
 雑誌        N Engl J Med 353:2477-90 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMra043172"">10.1056/NEJMra043172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15380513"">15380513</a>
 著者        Linehan WM, Zbar B.
 タイトル      Focus on kidney cancer.
 雑誌        Cancer Cell 6:223-8 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ccr.2004.09.006"">10.1016/j.ccr.2004.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19406209"">19406209</a> (PRCC-TFE3)
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbcan.2009.04.005"">10.1016/j.bbcan.2009.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19233641"">19233641</a>
 著者        Prensner JR, Chinnaiyan AM
 タイトル      Oncogenic gene fusions in epithelial carcinomas.
 雑誌        Curr Opin Genet Dev 19:82-91 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.gde.2008.11.008"">10.1016/j.gde.2008.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15649945"">15649945</a> (HNF1A)
 著者        Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J
 タイトル      Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
 雑誌        Hum Mol Genet 14:603-14 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi057"">10.1093/hmg/ddi057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10987279"">10987279</a> (OGG1)
 著者        Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP
 タイトル      Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney.
 雑誌        Cancer Res 60:4740-4 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29301960"">29301960</a> (PBRM1)
 著者        Miao D, Margolis CA, Gao W, Voss MH, Li W, Martini DJ, Norton C, Bosse D, Wankowicz SM, Cullen D, Horak C, Wind-Rotolo M, Tracy A, Giannakis M, Hodi FS, Drake CG, Ball MW, Allaf ME, Snyder A, Hellmann MD, Ho T, Motzer RJ, Signoretti S, Kaelin WG Jr, Choueiri TK, Van Allen EM
 タイトル      Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma.
 雑誌        Science 359:801-806 (2018)
 DOI:<a href=""https://doi.org/10.1126/science.aan5951"">10.1126/science.aan5951</a>"
H00022,膀胱癌,,,"The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma are bladder carcinomas, and urothelial carcinomas of the renal pelvis and ureter account for only approximately 7% of the total. Urothelial tumours arise and evolve through divergent phenotypic pathways. Some tumours progress from urothelial hyperplasia to low-grade non-invasive superficial papillary tumours. More aggressive variants arise either from flat, high-grade carcinoma in situ (CIS) and progress to invasive tumours, or they arise de novo as invasive tumours. Low-grade papillary tumors frequently show a constitutive activation of the receptor tyrosine kinase-Ras pathway, exhibiting activating mutations in the HRAS and fibroblast growth factor receptor 3 (FGFR3) genes. In contrast, CIS and invasive tumors frequently show alterations in the TP53 and RB genes and pathways. Invasion and metastases are promoted by several factors that alter the tumour microenvironment, including the aberrant expression of E-cadherins (E-cad), matrix metalloproteinases (MMPs), angiogenic factors such as vascular endothelial growth factor (VEGF).",がん,nt06265  Bladder cancer,"H-ras (activating mutation) [HSA:3265] [KO:K02833]
 FGFR3 (activating mutation) [HSA:2261] [KO:K05094]
 p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621]
 p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451]
 RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618]
 EGFR (overexpression) [HSA:1956] [KO:K04361]
 ERBB2 (overexpression) [HSA:2064] [KO:K05083]
 RASSF1 (hypermethylation) [HSA:11186] [KO:K09850]
 DAPK1 (hypermethylation) [HSA:1612] [KO:K08803]",,,"Aluminium production
 4-Aminobiphenyl [CPD:C10998]
 Arsenic in drinking-water
 Auramine, manufacture of
 Benzidine [CPD:C16444]
 Benzo[a]pyrene [CPD:C07535]
 N,N-Bis(2-chloroethyl)-2-naphthylamine (Chlornaphazine)
 Coal gasification
 Coal-tar pitches [CPD:C16451]
 Coal-tars
 Herbal remedies containing plant species of the genus Aristolochia
 Magenta, manufacture of
 2-Naphthylamine [CPD:C02227]
 Paving and roofing with coal-tar pitch
 Radium-224 and its decay products [CPD:C16455]
 Schistosoma haematobium (infection with)
 Shale-oils [CPD:C16458]
 Tobacco smoking and tobacco smoke
 X- and gamma-radiation","メトトレキサート [DR:D00142]
 テガフール [DR:D01244]
 ドキシフルリジン [DR:D01309]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 テガフール・ウラシル [DR:D02131]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 エトポシド [DR:D00125]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 アベルマブ [DR:D10817]
 エンホルツマブベドチン [DR:D11525]
 シスプラチン [DR:D00275]
 ネダプラチン [DR:D01416]
 乾燥BCGワクチン [DR:D06466]
 アミノレブリン酸塩酸塩 [DR:D02908]",,"ICD-11: 2C94.2
 ICD-10: C67
 MeSH: D001749","PMID:16110317 (tumor type)
 著者        Wu XR.
 タイトル      Urothelial tumorigenesis: a tale of divergent pathways.
 雑誌        Nat Rev Cancer 5:713-25 (2005)
 DOI:10.1038/nrc1697
 PMID:17149381
 著者        Sugano K, Kakizoe T.
 タイトル      Genetic alterations in bladder cancer and their clinical applications in molecular tumor staging.
 雑誌        Nat Clin Pract Urol 3:642-52 (2006)
 DOI:10.1038/ncpuro0649
 PMID:16474624
 著者        Wolff EM, Liang G, Jones PA.
 タイトル      Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer.
 雑誌        Nat Clin Pract Urol 2:502-10 (2005)
 DOI:10.1038/ncpuro0318
 PMID:17158541
 著者        Mitra AP, Datar RH, Cote RJ.
 タイトル      Molecular pathways in invasive bladder cancer: new insights into mechanisms, progression, and target identification.
 雑誌        J Clin Oncol 24:5552-64 (2006)
 DOI:10.1200/JCO.2006.08.2073
 PMID:15760280 (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:10.1146/annurev.publhealth.26.021304.144402
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:11473382 (carcinogen)
 著者        Burger MS, Torino JL, Swaminathan S.
 タイトル      DNA damage in human transitional cell carcinoma cells after exposure to the proximate metabolite of the bladder carcinogen 4-aminobiphenyl.
 雑誌        Environ Mol Mutagen 38:1-11 (2001)
 DOI:10.1002/em.1044
 PMID:14643412 (carcinogen)
 著者        Rossman TG.
 タイトル      Mechanism of arsenic carcinogenesis: an integrated approach.
 雑誌        Mutat Res 533:37-65 (2003)
 DOI:10.1016/j.mrfmmm.2003.07.009
 PMID:9498898 (carcinogen)
 著者        Vineis P, Pirastu R.
 タイトル      Aromatic amines and cancer.
 雑誌        Cancer Causes Control 8:346-55 (1997)
 DOI:10.1023/a:1018453104303
 PMID:14648102 (carcinogen)
 著者        Golka K, Wiese A, Assennato G, Bolt HM.
 タイトル      Occupational exposure and urological cancer.
 雑誌        World J Urol 21:382-91 (2004)
 DOI:10.1007/s00345-003-0377-5
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733
 PMID:17195421 (carcinogen)
 著者        Olfert SM, Felknor SA, Delclos GL.
 タイトル      An updated review of the literature: risk factors for bladder cancer with focus on occupational exposures.
 雑誌        South Med J 99:1256-63 (2006)
 DOI:10.1097/01.smj.0000247266.10393.72
 PMID:11886955 (carcinogen)
 著者        Verma DK, Purdham JT, Roels HA.
 タイトル      Translating evidence about occupational conditions into strategies for prevention.
 雑誌        Occup Environ Med 59:205-13; quiz 214 (2002)
 DOI:10.1136/oem.59.3.156
 PMID:12505369 (carcinogen)
 著者        Nortier JL, Vanherweghem JL.
 タイトル      Renal interstitial fibrosis and urothelial carcinoma associated with the use of a Chinese herb (Aristolochia fangchi).
 雑誌        Toxicology 181-182:577-80 (2002)
 DOI:10.1016/S0300-483X(02)00486-9
 PMID:14672753 (carcinogen)
 著者        Zhou S, Koh HL, Gao Y, Gong ZY, Lee EJ.
 タイトル      Herbal bioactivation: the good, the bad and the ugly.
 雑誌        Life Sci 74:935-68 (2004)
 DOI:10.1016/j.lfs.2003.09.035
 PMID:10723042 (carcinogen)
 著者        Stern FB, Ruder AM, Chen G.
 タイトル      Proportionate mortality among unionized roofers and waterproofers.
 雑誌        Am J Ind Med 37:478-92 (2000)
 DOI:10.1002/(SICI)1097-0274(200005)37:5<478::AID-AJIM4>3.0.CO;2-8
 PMID:10564925 (carcinogen)
 著者        Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
 タイトル      Malignancies in patients treated with high doses of radium-224.
 雑誌        Radiat Res 152:S3-7 (1999)
 DOI:10.2307/3580102
 PMID:15489140 (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:10.1016/j.semcancer.2004.06.010
 PMID:15552776 (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:10.1016/j.lungcan.2004.07.998
 PMID:15070562 (carcinogen)
 著者        Berrington de Gonzalez A, Darby S.
 タイトル      Risk of cancer from diagnostic X-rays: estimates for the UK and 14 other countries.
 雑誌        Lancet 363:345-51 (2004)
 DOI:10.1016/S0140-6736(04)15433-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00022"">H00022</a>",膀胱癌,"The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma are bladder carcinomas, and urothelial carcinomas of the renal pelvis and ureter account for only approximately 7% of the total. Urothelial tumours arise and evolve through divergent phenotypic pathways. Some tumours progress from urothelial hyperplasia to low-grade non-invasive superficial papillary tumours. More aggressive variants arise either from flat, high-grade carcinoma in situ (CIS) and progress to invasive tumours, or they arise de novo as invasive tumours. Low-grade papillary tumors frequently show a constitutive activation of the receptor tyrosine kinase-Ras pathway, exhibiting activating mutations in the HRAS and fibroblast growth factor receptor 3 (FGFR3) genes. In contrast, CIS and invasive tumors frequently show alterations in the TP53 and RB genes and pathways. Invasion and metastases are promoted by several factors that alter the tumour microenvironment, including the aberrant expression of E-cadherins (E-cad), matrix metalloproteinases (MMPs), angiogenic factors such as vascular endothelial growth factor (VEGF).","<a href=""https://www.kegg.jp/network/nt06265"">nt06265</a>  Bladder cancer","H-ras (activating mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 FGFR3 (activating mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]
 p16/INK4A (homozygous deletion or hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 p53 (inactivating mutation or deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 RB1 (deletion or hyperphosphorylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 ERBB2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 RASSF1 (hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11186"">11186</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09850"">K09850</a>]
 DAPK1 (hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1612"">1612</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08803"">K08803</a>]",,,"Aluminium production
 4-Aminobiphenyl [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C10998"">C10998</a>]
 Arsenic in drinking-water
 Auramine, manufacture of
 Benzidine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16444"">C16444</a>]
 Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 N,N-Bis(2-chloroethyl)-2-naphthylamine (Chlornaphazine)
 Coal gasification
 Coal-tar pitches [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16451"">C16451</a>]
 Coal-tars
 Herbal remedies containing plant species of the genus Aristolochia
 Magenta, manufacture of
 2-Naphthylamine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C02227"">C02227</a>]
 Paving and roofing with coal-tar pitch
 Radium-224 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16455"">C16455</a>]
 Schistosoma haematobium (infection with)
 Shale-oils [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16458"">C16458</a>]
 Tobacco smoking and tobacco smoke
 X- and gamma-radiation","メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 テガフール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01244"">D01244</a>]
 ドキシフルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01309"">D01309</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 アベルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10817"">D10817</a>]
 エンホルツマブベドチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11525"">D11525</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 乾燥BCGワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06466"">D06466</a>]
 アミノレブリン酸塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02908"">D02908</a>]",,"ICD-11: 2C94.2
 ICD-10: C67
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001749"">D001749</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16110317"">16110317</a> (tumor <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Wu XR.
 タイトル      Urothelial tumorigenesis: a tale of divergent pathways.
 雑誌        Nat Rev Cancer 5:713-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1697"">10.1038/nrc1697</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17149381"">17149381</a>
 著者        Sugano K, Kakizoe T.
 タイトル      Genetic alterations in bladder cancer and their clinical applications in molecular tumor staging.
 雑誌        Nat Clin Pract Urol 3:642-52 (2006)
 DOI:<a href=""https://doi.org/10.1038/ncpuro0649"">10.1038/ncpuro0649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16474624"">16474624</a>
 著者        Wolff EM, Liang G, Jones PA.
 タイトル      Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer.
 雑誌        Nat Clin Pract Urol 2:502-10 (2005)
 DOI:<a href=""https://doi.org/10.1038/ncpuro0318"">10.1038/ncpuro0318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17158541"">17158541</a>
 著者        Mitra AP, Datar RH, Cote RJ.
 タイトル      Molecular pathways in invasive bladder cancer: new insights into mechanisms, progression, and target identification.
 雑誌        J Clin Oncol 24:5552-64 (2006)
 DOI:<a href=""https://doi.org/10.1200/JCO.2006.08.2073"">10.1200/JCO.2006.08.2073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15760280"">15760280</a> (carcinogen)
 著者        Schottenfeld D, Beebe-Dimmer JL.
 タイトル      Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
 雑誌        Annu Rev Public Health 26:37-60 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.publhealth.26.021304.144402"">10.1146/annurev.publhealth.26.021304.144402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11473382"">11473382</a> (carcinogen)
 著者        Burger MS, Torino JL, Swaminathan S.
 タイトル      DNA damage in human transitional cell carcinoma cells after exposure to the proximate metabolite of the bladder carcinogen 4-aminobiphenyl.
 雑誌        Environ Mol Mutagen 38:1-11 (2001)
 DOI:<a href=""https://doi.org/10.1002/em.1044"">10.1002/em.1044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14643412"">14643412</a> (carcinogen)
 著者        Rossman TG.
 タイトル      Mechanism of arsenic carcinogenesis: an integrated approach.
 雑誌        Mutat Res 533:37-65 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.mrfmmm.2003.07.009"">10.1016/j.mrfmmm.2003.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498898"">9498898</a> (carcinogen)
 著者        Vineis P, Pirastu R.
 タイトル      Aromatic amines and cancer.
 雑誌        Cancer Causes Control 8:346-55 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018453104303"">1018453104303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14648102"">14648102</a> (carcinogen)
 著者        Golka K, Wiese A, Assennato G, Bolt HM.
 タイトル      Occupational exposure and urological cancer.
 雑誌        World J Urol 21:382-91 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00345-003-0377-5"">10.1007/s00345-003-0377-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17195421"">17195421</a> (carcinogen)
 著者        Olfert SM, Felknor SA, Delclos GL.
 タイトル      An updated review of the literature: risk factors for bladder cancer with focus on occupational exposures.
 雑誌        South Med J 99:1256-63 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.smj.0000247266.10393.72"">10.1097/01.smj.0000247266.10393.72</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11886955"">11886955</a> (carcinogen)
 著者        Verma DK, Purdham JT, Roels HA.
 タイトル      Translating evidence about occupational conditions into strategies for prevention.
 雑誌        Occup Environ Med 59:205-13; quiz 214 (2002)
 DOI:<a href=""https://doi.org/10.1136/oem.59.3.156"">10.1136/oem.59.3.156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12505369"">12505369</a> (carcinogen)
 著者        Nortier JL, Vanherweghem JL.
 タイトル      Renal interstitial fibrosis and urothelial carcinoma associated with the use of a Chinese herb (Aristolochia fangchi).
 雑誌        Toxicology 181-182:577-80 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0300-483X(02)00486-9"">10.1016/S0300-483X(02)00486-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14672753"">14672753</a> (carcinogen)
 著者        Zhou S, Koh HL, Gao Y, Gong ZY, Lee EJ.
 タイトル      Herbal bioactivation: the good, the bad and the ugly.
 雑誌        Life Sci 74:935-68 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.lfs.2003.09.035"">10.1016/j.lfs.2003.09.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10723042"">10723042</a> (carcinogen)
 著者        Stern FB, Ruder AM, Chen G.
 タイトル      Proportionate mortality among unionized roofers and waterproofers.
 雑誌        Am J Ind Med 37:478-92 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1097-0274(200005)37:"">10.1002/(SICI)1097-0274(200005)37:</a><a href=""https://doi.org/5<478:"">5<478:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJIM4>3.0.CO;2-8"">AID-AJIM4>3.0.CO;2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10564925"">10564925</a> (carcinogen)
 著者        Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
 タイトル      Malignancies in patients treated with high doses of radium-224.
 雑誌        Radiat Res 152:S3-7 (1999)
 DOI:<a href=""https://doi.org/10.2307/3580102"">10.2307/3580102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489140"">15489140</a> (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.semcancer.2004.06.010"">10.1016/j.semcancer.2004.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15552776"">15552776</a> (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.lungcan.2004.07.998"">10.1016/j.lungcan.2004.07.998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15070562"">15070562</a> (carcinogen)
 著者        Berrington de Gonzalez A, Darby S.
 タイトル      Risk of cancer from diagnostic X-rays: estimates for the UK and 14 other countries.
 雑誌        Lancet 363:345-51 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(04)15433-0"">10.1016/S0140-6736(04)15433-0</a>"
H00023,精巣癌,,,"Testicular germ cell tumor (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: teratomas and yolk sac tumors of newborns and infants, seminomatous and nonseminomatous germ cell tumors of adolescents and young adults, and spermatocytic seminoma of elderly men. Recent studies of TGCTs have suggested that overexpression of cyclin D2 is a very early, possibly the oncogenic, event in GC tumorigenesis.",がん,,"CCND2 (amplification) [HSA:894] [KO:K10151]
 FGFR3 [HSA:2261] [KO:K05094]
 KIT [HSA:3815] [KO:K05091]
 STK11 [HSA:6794] [KO:K07298]",,,,"シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ブレオマイシン塩酸塩 [DR:D03229]
 ビンブラスチン硫酸塩 [DR:D01068]
 エトポシド [DR:D00125]
 パクリタキセル [DR:D00491]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ネダプラチン [DR:D01416]",,"ICD-11: 2C80
 ICD-10: C62
 MeSH: D013736
 OMIM: 273300","PMID:18042148
 著者        Lind GE, Skotheim RI, Lothe RA
 タイトル      The epigenome of testicular germ cell tumors.
 雑誌        APMIS 115:1147-60 (2007)
 DOI:10.1111/j.1600-0463.2007.apm_660.xml.x
 PMID:10749107
 著者        Chaganti RS, Houldsworth J.
 タイトル      Genetics and biology of adult human male germ cell tumors.
 雑誌        Cancer Res 60:1475-82 (2000)
 PMID:9791864
 著者        Lutzker SG, Barnard NJ.
 タイトル      Testicular germ cell tumors: molecular understanding and clinical implications.
 雑誌        Mol Med Today 4:404-11 (1998)
 DOI:10.1016/S1357-4310(98)01329-X
 PMID:17683189
 著者        Bahrami A, Ro JY, Ayala AG.
 タイトル      An overview of testicular germ cell tumors.
 雑誌        Arch Pathol Lab Med 131:1267-80 (2007)
 DOI:10.1043/1543-2165(2007)131[1267:AOOTGC]2.0.CO;2
 PMID:9056671 (CCND2)
 著者        Houldsworth J, Reuter V, Bosl GJ, Chaganti RS
 タイトル      Aberrant expression of cyclin D2 is an early event in human male germ cell tumorigenesis.
 雑誌        Cell Growth Differ 8:293-9 (1997)
 PMID:19855393 (FGFR3)
 著者        Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO
 タイトル      Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
 雑誌        Nat Genet 41:1247-52 (2009)
 DOI:10.1038/ng.470
 PMID:10362788 (KIT)
 著者        Tian Q, Frierson HF Jr, Krystal GW, Moskaluk CA
 タイトル      Activating c-kit gene mutations in human germ cell tumors.
 雑誌        Am J Pathol 154:1643-7 (1999)
 DOI:10.1016/S0002-9440(10)65419-3
 PMID:9605748 (STK11)
 著者        Avizienyte E, Roth S, Loukola A, Hemminki A, Lothe RA, Stenwig AE, Fossa SD, Salovaara R, Aaltonen LA
 タイトル      Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.
 雑誌        Cancer Res 58:2087-90 (1998)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00023"">H00023</a>",精巣癌,"Testicular germ cell tumor (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: teratomas and yolk sac tumors of newborns and infants, seminomatous and nonseminomatous germ cell tumors of adolescents and young adults, and spermatocytic seminoma of elderly men. Recent studies of TGCTs have suggested that overexpression of cyclin D2 is a very early, possibly the oncogenic, event in GC tumorigenesis.",,"CCND2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:894"">894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10151"">K10151</a>]
 FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]
 KIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 STK11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6794"">6794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07298"">K07298</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]",,"ICD-11: 2C80
 ICD-10: C62
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013736"">D013736</a>
 OMIM: <a href=""https://www.omim.org/entry/273300"">273300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18042148"">18042148</a>
 著者        Lind GE, Skotheim RI, Lothe RA
 タイトル      The epigenome of testicular germ cell tumors.
 雑誌        APMIS 115:1147-60 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0463.2007.apm_660.xml.x"">10.1111/j.1600-0463.2007.apm_660.xml.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10749107"">10749107</a>
 著者        Chaganti RS, Houldsworth J.
 タイトル      Genetics and biology of adult human male germ cell tumors.
 雑誌        Cancer Res 60:1475-82 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9791864"">9791864</a>
 著者        Lutzker SG, Barnard NJ.
 タイトル      Testicular germ cell tumors: molecular understanding and clinical implications.
 雑誌        Mol Med Today 4:404-11 (1998)
 DOI:<a href=""https://doi.org/10.1016/S1357-4310(98)01329-X"">10.1016/S1357-4310(98)01329-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17683189"">17683189</a>
 著者        Bahrami A, Ro JY, Ayala AG.
 タイトル      An overview of testicular germ cell tumors.
 雑誌        Arch Pathol Lab Med 131:1267-80 (2007)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2007)131[1267:"">10.1043/1543-2165(2007)131[1267:</a><a href=""https://doi.org/AOOTGC]2.0.CO;2"">AOOTGC]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9056671"">9056671</a> (CCND2)
 著者        Houldsworth J, Reuter V, Bosl GJ, Chaganti RS
 タイトル      Aberrant expression of cyclin D2 is an early event in human male germ cell tumorigenesis.
 雑誌        Cell Growth Differ 8:293-9 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19855393"">19855393</a> (FGFR3)
 著者        Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO
 タイトル      Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
 雑誌        Nat Genet 41:1247-52 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.470"">10.1038/ng.470</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10362788"">10362788</a> (KIT)
 著者        Tian Q, Frierson HF Jr, Krystal GW, Moskaluk CA
 タイトル      Activating c-kit gene mutations in human germ cell tumors.
 雑誌        Am J Pathol 154:1643-7 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0002-9440(10)65419-3"">10.1016/S0002-9440(10)65419-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9605748"">9605748</a> (STK11)
 著者        Avizienyte E, Roth S, Loukola A, Hemminki A, Lothe RA, Stenwig AE, Fossa SD, Salovaara R, Aaltonen LA
 タイトル      Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.
 雑誌        Cancer Res 58:2087-90 (1998)"
H00024,"前立腺癌
 下位グループ    遺伝性前立腺癌 [DS:H02530]",,,"Prostate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage mediated by carcinogens. NKX3.1, PTEN, and p27 regulate the growth and survival of prostate cells in the normal prostate. Inadequate levels of PTEN and NKX3.1 lead to a reduction in p27 levels and to increased proliferation and decreased apoptosis. Androgen receptor (AR) is a transcription factor that is normally activated by its androgen ligand. During androgen withdrawal therapy, the AR signal transduction pathway also could be activated by amplification of the AR gene, by AR gene mutations, or by altered activity of AR coactivators. Through these mechanisms, tumor cells lead to the emergence of androgen-independent prostate cancer.",がん,nt06272  Prostate cancer,"AR (amplification, mutation) [HSA:367] [KO:K08557]
 CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
 NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
 PTEN (allelic loss) [HSA:5728] [KO:K01110]
 GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
 TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
 TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
 TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
 TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
 SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
 SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
 DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
 MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
 KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
 MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
 ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]",,,"Cadmium and cadmium compounds [CPD:C01413]
 Chimney sweeping","デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 エチニルエストラジオール [DR:D00554]
 クロルマジノン酢酸エステル [DR:D01299]
 リュープロレリン酢酸塩 [DR:D00989]
 ゴセレリン酢酸塩 [DR:D00573]
 デガレリクス酢酸塩 [DR:D09400]
 イホスファミド [DR:D00343]
 エストラムスチンリン酸エステルナトリウム水和物 [DR:D06397]
 テガフール・ウラシル [DR:D02131]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 カバジタキセルアセトン付加物 [DR:D10452]
 シスプラチン [DR:D00275]
 オラパリブ [DR:D09730] (BRCA遺伝子変異陽性)
 フルタミド [DR:D00586]
 ビカルタミド [DR:D00961]
 エンザルタミド [DR:D10218]
 アパルタミド [DR:D11040]
 ダロルタミド [DR:D11045]
 アビラテロン酢酸エステル [DR:D09701]
 塩化ラジウム [DR:D10398]
 テセルパツレブ [DR:D12116]",,"ICD-11: 2C82
 ICD-10: C61
 OMIM: 176807","PMID:12878745 (gene, tumor type)
 著者        Nelson WG, De Marzo AM, Isaacs WB.
 タイトル      Prostate cancer.
 雑誌        N Engl J Med 349:366-81 (2003)
 DOI:10.1056/NEJMra021562
 PMID:17384581 (gene, tumor type)
 著者        De Marzo AM, Platz EA, Sutcliffe S, Xu J, Gronberg H, Drake CG, Nakai Y, Isaacs WB, Nelson WG.
 タイトル      Inflammation in prostate carcinogenesis.
 雑誌        Nat Rev Cancer 7:256-69 (2007)
 DOI:10.1038/nrc2090
 PMID:11018010 (tumor type)
 著者        Abate-Shen C, Shen MM.
 タイトル      Molecular genetics of prostate cancer.
 雑誌        Genes Dev 14:2410-34 (2000)
 DOI:10.1101/gad.819500
 PMID:15149739
 著者        Porkka KP, Visakorpi T.
 タイトル      Molecular mechanisms of prostate cancer.
 雑誌        Eur Urol 45:683-91 (2004)
 DOI:10.1016/j.eururo.2004.01.012
 PMID:19406209
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:10.1016/j.bbcan.2009.04.005
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:11423979
 著者        Tsukasaki K, Miller CW, Greenspun E, Eshaghian S, Kawabata H, Fujimoto T, Tomonaga M, Sawyers C, Said JW, Koeffler HP
 タイトル      Mutations in the mitotic check point gene, MAD1L1, in human cancers.
 雑誌        Oncogene 20:3301-5 (2001)
 DOI:10.1038/sj.onc.1204421
 PMID:11752579
 著者        Narla G, Heath KE, Reeves HL, Li D, Giono LE, Kimmelman AC, Glucksman MJ, Narla J, Eng FJ, Chan AM, Ferrari AC, Martignetti JA, Friedman SL
 タイトル      KLF6, a candidate tumor suppressor gene mutated in prostate cancer.
 雑誌        Science 294:2563-6 (2001)
 DOI:10.1126/science.1066326
 PMID:7773287
 著者        Eagle LR, Yin X, Brothman AR, Williams BJ, Atkin NB, Prochownik EV
 タイトル      Mutation of the MXI1 gene in prostate cancer.
 雑誌        Nat Genet 9:249-55 (1995)
 DOI:10.1038/ng0395-249
 PMID:15750593
 著者        Sun X, Frierson HF, Chen C, Li C, Ran Q, Otto KB, Cantarel BL, Vessella RL, Gao AC, Petros J, Miura Y, Simons JW, Dong JT
 タイトル      Frequent somatic mutations of the transcription factor ATBF1 in human prostate cancer.
 雑誌        Nat Genet 37:407-12 (2005)
 DOI:10.1038/ng1528","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00024"">H00024</a>","前立腺癌
 下位グループ    遺伝性前立腺癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02530"">H02530</a>]","Prostate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage mediated by carcinogens. NKX3.1, PTEN, and p27 regulate the growth and survival of prostate cells in the normal prostate. Inadequate levels of PTEN and NKX3.1 lead to a reduction in p27 levels and to increased proliferation and decreased apoptosis. Androgen receptor (AR) is a transcription factor that is normally activated by its androgen ligand. During androgen withdrawal therapy, the AR signal transduction pathway also could be activated by amplification of the AR gene, by AR gene mutations, or by altered activity of AR coactivators. Through these mechanisms, tumor cells lead to the emergence of androgen-independent prostate cancer.","<a href=""https://www.kegg.jp/network/nt06272"">nt06272</a>  Prostate cancer","AR (amplification, mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:367"">367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08557"">K08557</a>]
 CDKN1B (allelic loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1027"">1027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06624"">K06624</a>]
 NKX3.1 (allelic loss) (decreased expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4824"">4824</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09348"">K09348</a>]
 PTEN (allelic loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 GSTP1 (hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2950"">2950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23790"">K23790</a>]
 TMPRSS2-ERG (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2078"">2078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09435"">K09435</a>]
 TMPRSS2-ETV1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2115"">2115</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09431"">K09431</a>]
 TMPRSS2-ETV4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2118"">2118</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15592"">K15592</a>]
 TMPRSS2-ETV5 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2119"">2119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15593"">K15593</a>]
 SLC45A3-ETV1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2115"">2115</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09431"">K09431</a>]
 SLC45A3-ELK4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2005"">2005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04376"">K04376</a>]
 DDX5-ETV4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2118"">2118</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15592"">K15592</a>]
 MAD1L1 (somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8379"">8379</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06679"">K06679</a>]
 KLF6 (somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1316"">1316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09207"">K09207</a>]
 MXI1 (somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4601"">4601</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09114"">K09114</a>]
 ZFHX3 (somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:463"">463</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09378"">K09378</a>]",,,"Cadmium and cadmium compounds [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01413"">C01413</a>]
 Chimney sweeping","デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 エチニルエストラジオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00554"">D00554</a>]
 クロルマジノン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01299"">D01299</a>]
 リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]
 ゴセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00573"">D00573</a>]
 デガレリクス酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09400"">D09400</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 エストラムスチンリン酸エステルナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06397"">D06397</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 カバジタキセルアセトン付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10452"">D10452</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 オラパリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09730"">D09730</a>] (BRCA遺伝子変異陽性)
 フルタミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00586"">D00586</a>]
 ビカルタミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00961"">D00961</a>]
 エンザルタミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10218"">D10218</a>]
 アパルタミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11040"">D11040</a>]
 ダロルタミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11045"">D11045</a>]
 アビラテロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09701"">D09701</a>]
 塩化ラジウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10398"">D10398</a>]
 テセルパツレブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12116"">D12116</a>]",,"ICD-11: 2C82
 ICD-10: C61
 OMIM: <a href=""https://www.omim.org/entry/176807"">176807</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12878745"">12878745</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Nelson WG, De Marzo AM, Isaacs WB.
 タイトル      Prostate cancer.
 雑誌        N Engl J Med 349:366-81 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMra021562"">10.1056/NEJMra021562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17384581"">17384581</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        De Marzo AM, Platz EA, Sutcliffe S, Xu J, Gronberg H, Drake CG, Nakai Y, Isaacs WB, Nelson WG.
 タイトル      Inflammation in prostate carcinogenesis.
 雑誌        Nat Rev Cancer 7:256-69 (2007)
 DOI:<a href=""https://doi.org/10.1038/nrc2090"">10.1038/nrc2090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11018010"">11018010</a> (tumor <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Abate-Shen C, Shen MM.
 タイトル      Molecular genetics of prostate cancer.
 雑誌        Genes Dev 14:2410-34 (2000)
 DOI:<a href=""https://doi.org/10.1101/gad.819500"">10.1101/gad.819500</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15149739"">15149739</a>
 著者        Porkka KP, Visakorpi T.
 タイトル      Molecular mechanisms of prostate cancer.
 雑誌        Eur Urol 45:683-91 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.eururo.2004.01.012"">10.1016/j.eururo.2004.01.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19406209"">19406209</a>
 著者        Brenner JC, Chinnaiyan AM
 タイトル      Translocations in epithelial cancers.
 雑誌        Biochim Biophys Acta 1796:201-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbcan.2009.04.005"">10.1016/j.bbcan.2009.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11423979"">11423979</a>
 著者        Tsukasaki K, Miller CW, Greenspun E, Eshaghian S, Kawabata H, Fujimoto T, Tomonaga M, Sawyers C, Said JW, Koeffler HP
 タイトル      Mutations in the mitotic check point gene, MAD1L1, in human cancers.
 雑誌        Oncogene 20:3301-5 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1204421"">10.1038/sj.onc.1204421</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11752579"">11752579</a>
 著者        Narla G, Heath KE, Reeves HL, Li D, Giono LE, Kimmelman AC, Glucksman MJ, Narla J, Eng FJ, Chan AM, Ferrari AC, Martignetti JA, Friedman SL
 タイトル      KLF6, a candidate tumor suppressor gene mutated in prostate cancer.
 雑誌        Science 294:2563-6 (2001)
 DOI:<a href=""https://doi.org/10.1126/science.1066326"">10.1126/science.1066326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7773287"">7773287</a>
 著者        Eagle LR, Yin X, Brothman AR, Williams BJ, Atkin NB, Prochownik EV
 タイトル      Mutation of the MXI1 gene in prostate cancer.
 雑誌        Nat Genet 9:249-55 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0395-249"">10.1038/ng0395-249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15750593"">15750593</a>
 著者        Sun X, Frierson HF, Chen C, Li C, Ran Q, Otto KB, Cantarel BL, Vessella RL, Gao AC, Petros J, Miura Y, Simons JW, Dong JT
 タイトル      Frequent somatic mutations of the transcription factor ATBF1 in human prostate cancer.
 雑誌        Nat Genet 37:407-12 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1528"">10.1038/ng1528</a>"
H00025,陰茎癌,,,"Penile cancer is a disease with a high morbidity and mortality. Its prevalence is relatively rare in developed countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) is the predominant tumor type in penile cancer, accounting for 95% of cases. Penile cancers are thought to arise from the progression of precursor lesions and can be subdivided into human papilloma virus (HPV) positive and HPV negative cases. Most common disrupted pathways, both in HPV-mediated and HPV-independent penile carcinogenesis, involve the p14ARF/MDM2/p53 and/or p16INK4a/cyclin D/Rb pathways. HPVs exert their oncogenic effect by expressing the oncoproteins E6 and E7, which bind to and inactivate the p53 and Rb tumor suppressor gene products, respectively. HPV independent mechanisms of pathway inactivation include silencing of the p16INK4a gene by promoter hypermethylation, somatic mutations of the p53 gene, over-expression of MDM2 and mutation of p14ARF. Several other molecular events include alterations in the activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) pathway and prostaglandin E2 synthase. These alterations have been described in both HPV-positive and -negative penile cancers.",がん,,"p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621]
 BMI1 (overexpression) [HSA:648] [KO:K11459]
 p53 (mutation) [HSA:7157] [KO:K04451]
 MDM2 (overexpression) [HSA:4193] [KO:K06643]
 H-ras (mutation) [HSA:3265] [KO:K02833]
 c-MYC (mutation) [HSA:4609] [KO:K04377]
 E-Cadherin (expression) [HSA:999] [KO:K05689]
 MMP-2 (expression) [HSA:4313] [KO:K01398]
 MMP-9 (expression) [HSA:4318] [KO:K01403]
 COX-2 (expression) [HSA:5743] [KO:K11987]
 PTGES2 (expression) [HSA:80142] [KO:K05309]",,,"Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:T40087]
 Human papillomavirus type 18 [GN:T40088]",,,"ICD-11: 2C81
 ICD-10: C60
 MeSH: D010412","PMID:18607597 (description, gene, carcinogen, tumor type)
 著者        Bleeker MC, Heideman DA, Snijders PJ, Horenblas S, Dillner J, Meijer CJ
 タイトル      Penile cancer: epidemiology, pathogenesis and prevention.
 雑誌        World J Urol 27:141-50 (2009)
 DOI:10.1007/s00345-008-0302-z
 PMID:17466899 (gene, carcinogen, tumor type)
 著者        Kayes O, Ahmed HU, Arya M, Minhas S.
 タイトル      Molecular and genetic pathways in penile cancer.
 雑誌        Lancet Oncol 8:420-9 (2007)
 DOI:10.1016/S1470-2045(07)70137-7
 PMID:18548255 (carcinogen, marker, tumor type)
 著者        Muneer A, Kayes O, Ahmed HU, Arya M, Minhas S
 タイトル      Molecular prognostic factors in penile cancer.
 雑誌        World J Urol 27:161-7 (2009)
 DOI:10.1007/s00345-008-0275-y
 PMID:11281434 (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:10.1177/120347540100500110
 PMID:1311142 (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:10.1093/oxfordjournals.aje.a116270
 PMID:16569359 (marker)
 著者        Gentile V, Vicini P, Giacomelli L, Cardillo MR, Pierangeli A, Degener AM.
 タイトル      Detection of human papillomavirus DNA, p53 and ki67 expression in penile carcinomas.
 雑誌        Int J Immunopathol Pharmacol 19:209-15 (2006)
 DOI:10.1177/205873920601900121","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00025"">H00025</a>",陰茎癌,"Penile cancer is a disease with a high morbidity and mortality. Its prevalence is relatively rare in developed countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) is the predominant tumor type in penile cancer, accounting for 95% of cases. Penile cancers are thought to arise from the progression of precursor lesions and can be subdivided into human papilloma virus (HPV) positive and HPV negative cases. Most common disrupted pathways, both in HPV-mediated and HPV-independent penile carcinogenesis, involve the p14ARF/MDM2/p53 and/or p16INK4a/cyclin D/Rb pathways. HPVs exert their oncogenic effect by expressing the oncoproteins E6 and E7, which bind to and inactivate the p53 and Rb tumor suppressor gene products, respectively. HPV independent mechanisms of pathway inactivation include silencing of the p16INK4a gene by promoter hypermethylation, somatic mutations of the p53 gene, over-expression of MDM2 and mutation of p14ARF. Several other molecular events include alterations in the activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) pathway and prostaglandin E2 synthase. These alterations have been described in both HPV-positive and -negative penile cancers.",,"p16/INK4a (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 BMI1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:648"">648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11459"">K11459</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 MDM2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 H-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 c-MYC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 E-Cadherin (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]
 MMP-2 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4313"">4313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01398"">K01398</a>]
 MMP-9 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4318"">4318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01403"">K01403</a>]
 COX-2 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5743"">5743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11987"">K11987</a>]
 PTGES2 (expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80142"">80142</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05309"">K05309</a>]",,,"Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]
 Human papillomavirus type 18 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a>]",,,"ICD-11: 2C81
 ICD-10: C60
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010412"">D010412</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18607597"">18607597</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Bleeker MC, Heideman DA, Snijders PJ, Horenblas S, Dillner J, Meijer CJ
 タイトル      Penile cancer: epidemiology, pathogenesis and prevention.
 雑誌        World J Urol 27:141-50 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00345-008-0302-z"">10.1007/s00345-008-0302-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17466899"">17466899</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Kayes O, Ahmed HU, Arya M, Minhas S.
 タイトル      Molecular and genetic pathways in penile cancer.
 雑誌        Lancet Oncol 8:420-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(07)70137-7"">10.1016/S1470-2045(07)70137-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18548255"">18548255</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Muneer A, Kayes O, Ahmed HU, Arya M, Minhas S
 タイトル      Molecular prognostic factors in penile cancer.
 雑誌        World J Urol 27:161-7 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00345-008-0275-y"">10.1007/s00345-008-0275-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11281434"">11281434</a> (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:<a href=""https://doi.org/10.1177/120347540100500110"">10.1177/120347540100500110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1311142"">1311142</a> (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:<a href=""https://doi.org/10.1093/oxfordjournals.aje.a116270"">10.1093/oxfordjournals.aje.a116270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16569359"">16569359</a> (marker)
 著者        Gentile V, Vicini P, Giacomelli L, Cardillo MR, Pierangeli A, Degener AM.
 タイトル      Detection of human papillomavirus DNA, p53 and ki67 expression in penile carcinomas.
 雑誌        Int J Immunopathol Pharmacol 19:209-15 (2006)
 DOI:<a href=""https://doi.org/10.1177/205873920601900121"">10.1177/205873920601900121</a>"
H00026,子宮内膜癌,,,"Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification.",がん,nt06271  Endometrial cancer,"ERBB2 (amplification) [HSA:2064] [KO:K05083]
 PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110]
 MLH1 (mutation, methylation) [HSA:4292] [KO:K08734]
 KRAS [HSA:3845] [KO:K07827]
 CTNNB1 [HSA:1499] [KO:K02105]
 TP53 [HSA:7157] [KO:K04451]
 MSH3 [HSA:4437] [KO:K08736]
 CDH1 [HSA:999] [KO:K05689]",,,"Estrogen therapy, postmenopausal
 Tamoxifen [CPD:C07108]","メドロキシプロゲステロン酢酸エステル [DR:D00951]
 シクロホスファミド水和物 [DR:D00287]
 フルオロウラシル [DR:D00584]
 シタラビン [DR:D00168]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 ピラルビシン塩酸塩 [DR:D08386]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 レンバチニブメシル酸塩 [DR:D09920]
 ペムブロリズマブ [DR:D10574]
 シスプラチン [DR:D00275]",,"ICD-11: 2C76
 ICD-10: C54
 MeSH: D016889
 OMIM: 608089","PMID:17028294
 著者        Hecht JL, Mutter GL.
 タイトル      Molecular and pathologic aspects of endometrial carcinogenesis.
 雑誌        J Clin Oncol 24:4783-91 (2006)
 DOI:10.1200/JCO.2006.06.7173
 PMID:15947972
 著者        Ryan AJ, Susil B, Jobling TW, Oehler MK.
 タイトル      Endometrial cancer.
 雑誌        Cell Tissue Res 322:53-61 (2005)
 DOI:10.1007/s00441-005-1109-5
 PMID:12583434
 著者        Salvesen HB, Akslen LA.
 タイトル      Molecular pathogenesis and prognostic factors in endometrial carcinoma.
 雑誌        APMIS 110:673-89 (2002)
 DOI:10.1034/j.1600-0463.2002.1101001.x
 PMID:16508724
 著者        Shiozawa T, Konishi I.
 タイトル      Early endometrial carcinoma: clinicopathology, hormonal aspects, molecular genetics, diagnosis, and treatment.
 雑誌        Int J Clin Oncol 11:13-21 (2006)
 DOI:10.1007/s10147-005-0546-1
 PMID:8782829 (MSH3)
 著者        Risinger JI, Umar A, Boyd J, Berchuck A, Kunkel TA, Barrett JC
 タイトル      Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair.
 雑誌        Nat Genet 14:102-5 (1996)
 DOI:10.1038/ng0996-102
 PMID:8075649 (CDH1)
 著者        Risinger JI, Berchuck A, Kohler MF, Boyd J
 タイトル      Mutations of the E-cadherin gene in human gynecologic cancers.
 雑誌        Nat Genet 7:98-102 (1994)
 DOI:10.1038/ng0594-98","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00026"">H00026</a>",子宮内膜癌,"Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification.","<a href=""https://www.kegg.jp/network/nt06271"">nt06271</a>  Endometrial cancer","ERBB2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 PTEN (mutation, deletions, methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 MLH1 (mutation, methylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 MSH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4437"">4437</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08736"">K08736</a>]
 CDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]",,,"Estrogen therapy, postmenopausal
 Tamoxifen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07108"">C07108</a>]","メドロキシプロゲステロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00951"">D00951</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 レンバチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09920"">D09920</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]",,"ICD-11: 2C76
 ICD-10: C54
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016889"">D016889</a>
 OMIM: <a href=""https://www.omim.org/entry/608089"">608089</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17028294"">17028294</a>
 著者        Hecht JL, Mutter GL.
 タイトル      Molecular and pathologic aspects of endometrial carcinogenesis.
 雑誌        J Clin Oncol 24:4783-91 (2006)
 DOI:<a href=""https://doi.org/10.1200/JCO.2006.06.7173"">10.1200/JCO.2006.06.7173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15947972"">15947972</a>
 著者        Ryan AJ, Susil B, Jobling TW, Oehler MK.
 タイトル      Endometrial cancer.
 雑誌        Cell Tissue Res 322:53-61 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00441-005-1109-5"">10.1007/s00441-005-1109-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12583434"">12583434</a>
 著者        Salvesen HB, Akslen LA.
 タイトル      Molecular pathogenesis and prognostic factors in endometrial carcinoma.
 雑誌        APMIS 110:673-89 (2002)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0463.2002.1101001.x"">10.1034/j.1600-0463.2002.1101001.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16508724"">16508724</a>
 著者        Shiozawa T, Konishi I.
 タイトル      Early endometrial carcinoma: clinicopathology, hormonal aspects, molecular genetics, diagnosis, and treatment.
 雑誌        Int J Clin Oncol 11:13-21 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10147-005-0546-1"">10.1007/s10147-005-0546-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8782829"">8782829</a> (MSH3)
 著者        Risinger JI, Umar A, Boyd J, Berchuck A, Kunkel TA, Barrett JC
 タイトル      Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair.
 雑誌        Nat Genet 14:102-5 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0996-102"">10.1038/ng0996-102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8075649"">8075649</a> (CDH1)
 著者        Risinger JI, Berchuck A, Kohler MF, Boyd J
 タイトル      Mutations of the E-cadherin gene in human gynecologic cancers.
 雑誌        Nat Genet 7:98-102 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng0594-98"">10.1038/ng0594-98</a>"
H00027,卵巣癌,,,"Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided into mucinous, serous, endometrioid, and clear cell subtypes. Approximately 10% of ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of genetic damage over a lifetime. Several specific genes involved in ovarian carcinogenesis have been identified, including the p53 tumor suppressor gene and ERBB2 and PIK3CA oncogenes.",がん,,"BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605]
 BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775]
 MSH2 (germline mutation) [HSA:4436] [KO:K08735]
 MLH1 (germline mutation) [HSA:4292] [KO:K08734]
 ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083]
 K-ras (mutation) [HSA:3845] [KO:K07827]
 AKT2 (amplification) [HSA:208] [KO:K04456]
 PIK3CA (amplification) [HSA:5290] [KO:K00922]
 c-MYC (overexpression) [HSA:4609] [KO:K04377]
 p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451]
 CTNNB1 [HSA:1499] [KO:K02105]
 PRKN [HSA:5071] [KO:K04556]
 OPCML [HSA:4978] [KO:K06773]
 AKT1 [HSA:207] [KO:K04456]
 CDH1 [HSA:999] [KO:K05689]",,,,"シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 フルオロウラシル [DR:D00584]
 ゲムシタビン塩酸塩 [DR:D01155]
 ブレオマイシン塩酸塩 [DR:D03229]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 エトポシド [DR:D00125]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 ノギテカン塩酸塩 [DR:D02168]
 イリノテカン塩酸塩水和物 [DR:D01061]
 ベバシズマブ [DR:D06409]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 オラパリブ [DR:D09730] (BRCA遺伝子変異陽性)
 ニラパリブトシル酸塩水和物 [DR:D11895]
 ネダプラチン [DR:D01416]",,"ICD-11: 2C73
 ICD-10: C56
 MeSH: D010051
 OMIM: 167000","PMID:15111296 (tumor type)
 著者        Shih IeM, Kurman RJ.
 タイトル      Ovarian tumorigenesis: a proposed model based on morphological and molecular genetic analysis.
 雑誌        Am J Pathol 164:1511-8 (2004)
 DOI:10.1016/S0002-9440(10)63708-X
 PMID:12886939 (gene, tumor type)
 著者        Katabuchi H, Okamura H.
 タイトル      Cell biology of human ovarian surface epithelial cells and ovarian carcinogenesis.
 雑誌        Med Electron Microsc 36:74-86 (2003)
 DOI:10.1007/s00795-002-0196-6
 PMID:12413930
 著者        Wenham RM, Lancaster JM, Berchuck A.
 タイトル      Molecular aspects of ovarian cancer.
 雑誌        Best Pract Res Clin Obstet Gynaecol 16:483-97 (2002)
 DOI:10.1053/beog.2002.0298
 PMID:10417756
 著者        Wright K, Wilson P, Morland S, Campbell I, Walsh M, Hurst T, Ward B, Cummings M, Chenevix-Trench G
 タイトル      beta-catenin mutation and expression analysis in ovarian cancer: exon 3 mutations and nuclear translocation in 16% of endometrioid tumours.
 雑誌        Int J Cancer 82:625-9 (1999)
 DOI:10.1002/(sici)1097-0215(19990827)82:5<625::aid-ijc1>3.0.co;2-2
 PMID:14614460
 著者        Denison SR, Wang F, Becker NA, Schule B, Kock N, Phillips LA, Klein C, Smith DI
 タイトル      Alterations in the common fragile site gene Parkin in ovarian and other cancers.
 雑誌        Oncogene 22:8370-8 (2003)
 DOI:10.1038/sj.onc.1207072
 PMID:22585860
 著者        McKie AB, Vaughan S, Zanini E, Okon IS, Louis L, de Sousa C, Greene MI, Wang Q, Agarwal R, Shaposhnikov D, Wong JL, Gungor H, Janczar S, El-Bahrawy M, Lam EW, Chayen NE, Gabra H
 タイトル      The OPCML tumor suppressor functions as a cell surface repressor-adaptor, negatively regulating receptor tyrosine kinases in epithelial ovarian cancer.
 雑誌        Cancer Discov 2:156-71 (2012)
 DOI:10.1158/2159-8290.CD-11-0256
 PMID:17611497
 著者        Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE
 タイトル      A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.
 雑誌        Nature 448:439-44 (2007)
 DOI:10.1038/nature05933
 PMID:18026186
 著者        Blechschmidt K, Sassen S, Schmalfeldt B, Schuster T, Hofler H, Becker KF
 タイトル      The E-cadherin repressor Snail is associated with lower overall survival of ovarian cancer patients.
 雑誌        Br J Cancer 98:489-95 (2008)
 DOI:10.1038/sj.bjc.6604115","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00027"">H00027</a>",卵巣癌,"Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided into mucinous, serous, endometrioid, and clear cell subtypes. Approximately 10% of ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of genetic damage over a lifetime. Several specific genes involved in ovarian carcinogenesis have been identified, including the p53 tumor suppressor gene and ERBB2 and PIK3CA oncogenes.",,"BRCA1 (germline mutation / deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 BRCA2 (germline mutation / deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 MSH2 (germline mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4436"">4436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08735"">K08735</a>]
 MLH1 (germline mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 ERBB2 (amplification / overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 K-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 AKT2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:208"">208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 PIK3CA (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 c-MYC (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 p53 (mutation / deletion, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 PRKN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5071"">5071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04556"">K04556</a>]
 OPCML [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4978"">4978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06773"">K06773</a>]
 AKT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:207"">207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 CDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 ノギテカン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02168"">D02168</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 オラパリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09730"">D09730</a>] (BRCA遺伝子変異陽性)
 ニラパリブトシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11895"">D11895</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]",,"ICD-11: 2C73
 ICD-10: C56
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010051"">D010051</a>
 OMIM: <a href=""https://www.omim.org/entry/167000"">167000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15111296"">15111296</a> (tumor <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Shih IeM, Kurman RJ.
 タイトル      Ovarian tumorigenesis: a proposed model based on morphological and molecular genetic analysis.
 雑誌        Am J Pathol 164:1511-8 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0002-9440(10)63708-X"">10.1016/S0002-9440(10)63708-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12886939"">12886939</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Katabuchi H, Okamura H.
 タイトル      Cell biology of human ovarian surface epithelial cells and ovarian carcinogenesis.
 雑誌        Med Electron Microsc 36:74-86 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00795-002-0196-6"">10.1007/s00795-002-0196-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12413930"">12413930</a>
 著者        Wenham RM, Lancaster JM, Berchuck A.
 タイトル      Molecular aspects of ovarian cancer.
 雑誌        Best Pract Res Clin Obstet Gynaecol 16:483-97 (2002)
 DOI:<a href=""https://doi.org/10.1053/beog.2002.0298"">10.1053/beog.2002.0298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10417756"">10417756</a>
 著者        Wright K, Wilson P, Morland S, Campbell I, Walsh M, Hurst T, Ward B, Cummings M, Chenevix-Trench G
 タイトル      beta-catenin mutation and expression analysis in ovarian cancer: exon 3 mutations and nuclear translocation in 16% of endometrioid tumours.
 雑誌        Int J Cancer 82:625-9 (1999)
 DOI:<a href=""https://doi.org/10.1002/(sici)1097-0215(19990827)82:"">10.1002/(sici)1097-0215(19990827)82:</a><a href=""https://doi.org/5<625:"">5<625:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/aid-ijc1>3.0.co;2-2"">aid-ijc1>3.0.co;2-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14614460"">14614460</a>
 著者        Denison SR, Wang F, Becker NA, Schule B, Kock N, Phillips LA, Klein C, Smith DI
 タイトル      Alterations in the common fragile site gene Parkin in ovarian and other cancers.
 雑誌        Oncogene 22:8370-8 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1207072"">10.1038/sj.onc.1207072</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22585860"">22585860</a>
 著者        McKie AB, Vaughan S, Zanini E, Okon IS, Louis L, de Sousa C, Greene MI, Wang Q, Agarwal R, Shaposhnikov D, Wong JL, Gungor H, Janczar S, El-Bahrawy M, Lam EW, Chayen NE, Gabra H
 タイトル      The OPCML tumor suppressor functions as a cell surface repressor-adaptor, negatively regulating receptor tyrosine kinases in epithelial ovarian cancer.
 雑誌        Cancer Discov 2:156-71 (2012)
 DOI:<a href=""https://doi.org/10.1158/2159-8290.CD-11-0256"">10.1158/2159-8290.CD-11-0256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17611497"">17611497</a>
 著者        Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE
 タイトル      A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.
 雑誌        Nature 448:439-44 (2007)
 DOI:<a href=""https://doi.org/10.1038/nature05933"">10.1038/nature05933</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18026186"">18026186</a>
 著者        Blechschmidt K, Sassen S, Schmalfeldt B, Schuster T, Hofler H, Becker KF
 タイトル      The E-cadherin repressor Snail is associated with lower overall survival of ovarian cancer patients.
 雑誌        Br J Cancer 98:489-95 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.bjc.6604115"">10.1038/sj.bjc.6604115</a>"
H00028,絨毛癌,,,"Gestational choriocarcinoma is a highly malignant epithelial tumor that can be associated with any type of gestational event, most often a complete hydatidiform mole (CM). CM occur in about one per 1000 pregnancies, and about 5-20% of CM progress to invasive moles or choriocarcinoma. Several molecular studies have been done to establish the expression of tumor-associated proteins in choriocarcinoma. In the p53 pathway, overexpression of the p53 protein and the p53-associated protein, MDM2, have been detected. Synergistic upregulation of c-MYC, c-ERB-2, c-FMS, and BCL-2 oncoproteins have also been suggested to have an important role in the pathogenesis of choriocarcinoma. Moreover, choriocarcinomas have been shown to express increased concentrations of MMP and decreased concentrations of TIMP to help with tumor invasion and metastasis.",がん,,"p53 (overexpression) [HSA:7157] [KO:K04451]
 MdM2 (overexpression) [HSA:4193] [KO:K06643]
 EGFR (overexpression) [HSA:1956] [KO:K04361]
 c-MYC (overexpression) [HSA:4609] [KO:K04377]
 ERBB2 (overexpression) [HSA:2064] [KO:K05083]
 c-FMS (overexpression) [HSA:1436] [KO:K05090]
 Bcl-2 (overexpression) [HSA:596] [KO:K02161]
 MMP-1 (overexpression) [HSA:4312] [KO:K01388]
 MMP-2 (overexpression) [HSA:4313] [KO:K01398]",,,,"メトトレキサート [DR:D00142]
 シクロホスファミド水和物 [DR:D00287]
 アクチノマイシンD [DR:D00214]
 ビンブラスチン硫酸塩 [DR:D01068]
 エトポシド [DR:D00125]",,"ICD-11: 2C75
 ICD-10: C58
 MeSH: D002822","PMID:17613426 (description, gene, tumor type)
 著者        Shih IeM.
 タイトル      Gestational trophoblastic neoplasia--pathogenesis and potential therapeutic targets.
 雑誌        Lancet Oncol 8:642-50 (2007)
 DOI:10.1016/S1470-2045(07)70204-8
 PMID:11869089
 著者        Li HW, Tsao SW, Cheung AN
 タイトル      Current understandings of the molecular genetics of gestational trophoblastic diseases.
 雑誌        Placenta 23:20-31 (2002)
 DOI:10.1053/plac.2001.0744
 PMID:17304028 (gene, tumor type)
 著者        Garner EI, Goldstein DP, Feltmate CM, Berkowitz RS.
 タイトル      Gestational trophoblastic disease.
 雑誌        Clin Obstet Gynecol 50:112-22 (2007)
 DOI:10.1097/GRF.0b013e31802f17fc","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00028"">H00028</a>",絨毛癌,"Gestational choriocarcinoma is a highly malignant epithelial tumor that can be associated with any type of gestational event, most often a complete hydatidiform mole (CM). CM occur in about one per 1000 pregnancies, and about 5-20% of CM progress to invasive moles or choriocarcinoma. Several molecular studies have been done to establish the expression of tumor-associated proteins in choriocarcinoma. In the p53 pathway, overexpression of the p53 protein and the p53-associated protein, MDM2, have been detected. Synergistic upregulation of c-MYC, c-ERB-2, c-FMS, and BCL-2 oncoproteins have also been suggested to have an important role in the pathogenesis of choriocarcinoma. Moreover, choriocarcinomas have been shown to express increased concentrations of MMP and decreased concentrations of TIMP to help with tumor invasion and metastasis.",,"p53 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 MdM2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 c-MYC (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 ERBB2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 c-FMS (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1436"">1436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05090"">K05090</a>]
 Bcl-2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 MMP-1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4312"">4312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01388"">K01388</a>]
 MMP-2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4313"">4313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01398"">K01398</a>]",,,,"メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 アクチノマイシンD [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00214"">D00214</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]",,"ICD-11: 2C75
 ICD-10: C58
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002822"">D002822</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17613426"">17613426</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Shih IeM.
 タイトル      Gestational trophoblastic neoplasia--pathogenesis and potential therapeutic targets.
 雑誌        Lancet Oncol 8:642-50 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(07)70204-8"">10.1016/S1470-2045(07)70204-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11869089"">11869089</a>
 著者        Li HW, Tsao SW, Cheung AN
 タイトル      Current understandings of the molecular genetics of gestational trophoblastic diseases.
 雑誌        Placenta 23:20-31 (2002)
 DOI:<a href=""https://doi.org/10.1053/plac.2001.0744"">10.1053/plac.2001.0744</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17304028"">17304028</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Garner EI, Goldstein DP, Feltmate CM, Berkowitz RS.
 タイトル      Gestational trophoblastic disease.
 雑誌        Clin Obstet Gynecol 50:112-22 (2007)
 DOI:<a href=""https://doi.org/10.1097/GRF.0b013e31802f17fc"">10.1097/GRF.0b013e31802f17fc</a>"
H00029,外陰癌,,,"Vulvar cancer is a relatively uncommon malignancy, occurring at a rate of 2.2 per 100,000 women per year. Squamous cell carcinoma (SCC) is the most common type of vulvar cancer and is observed in 80% to 90% of cases. There are at least two quite different types of SCC of the vulva. The less common, accounting for about one-third of cases, occurs in relatively young women, is usually preceded by the undifferentiated form of vulvar squamous intraepithelial neoplasia (VIN) and is associated with high-risk human papillomavirus (HPV) infection; the more frequent form develops in elderly patients, is not commonly associated with undifferentiated VIN but is frequently associated with differentiated VIN, lichen sclerosus or squamous hyperplasia, and is generally not linked to HPV infection. Relatively little is known about molecular changes in the genesis of vulvar cancer. Some studies suggest that early p53 mutation may be a defining step only in HPV-negative tumors. A rather small study suggests that mutation in phosphatase and tensin homologue (PTEN) is an early change in a substantial subset of vulvar carcinomas.",がん,,"PTEN (mutation) [HSA:5728] [KO:K01110]
 p53 (mutation) [HSA:7157] [KO:K04451]",,,"Azathioprine [CPD:C06837]
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:T40087]
 Human papillomavirus type 18 [GN:T40088]",組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:D10192],,"ICD-11: 2C70
 ICD-10: C51
 MeSH: D014846","PMID:12605639 (description, gene, carcinogen, tumor type)
 著者        Fox H, Wells M
 タイトル      Recent advances in the pathology of the vulva.
 雑誌        Histopathology 42:209-16 (2003)
 DOI:10.1046/j.1365-2559.2003.01578.x
 PMID:19286150 (description, carcinogen)
 著者        Lanneau GS, Argenta PA, Lanneau MS, Riffenburgh RH, Gold MA, McMeekin DS, Webster N, Judson PL
 タイトル      Vulvar cancer in young women: demographic features and outcome evaluation.
 雑誌        Am J Obstet Gynecol 200:645.e1-5 (2009)
 DOI:10.1016/j.ajog.2009.01.014
 PMID:10955808 (gene, tumor type)
 著者        Holway AH, Rieger-Christ KM, Miner WR, Cain JW, Dugan JM, Pezza JA, Silverman ML, Shapter A, McLellan R, Summerhayes IC.
 タイトル      Somatic mutation of PTEN in vulvar cancer.
 雑誌        Clin Cancer Res 6:3228-35 (2000)
 PMID:11156383 (gene, tumor type)
 著者        Brooks LA, Tidy JA, Gusterson B, Hiller L, O'Nions J, Gasco M, Marin MC, Farrell PJ, Kaelin WG Jr, Crook T.
 タイトル      Preferential retention of codon 72 arginine p53 in squamous cell carcinomas of the vulva occurs in cancers positive and negative for human papillomavirus.
 雑誌        Cancer Res 60:6875-7 (2000)
 PMID:15203746 (marker, tumor type)
 著者        Marjoniemi VM.
 タイトル      Immunohistochemistry in gynaecological pathology: a review.
 雑誌        Pathology 36:109-19 (2004)
 DOI:10.1080/00313020410001671948
 PMID:11281434 (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:10.1177/120347540100500110
 PMID:1311142 (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:10.1093/oxfordjournals.aje.a116270
 PMID:16062089 (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:10.1097/01.coc.0000168670.28659.8d
 PMID:12605088 (marker)
 著者        Nucci MR, Castrillon DH, Bai H, Quade BJ, Ince TA, Genest DR, Lee KR, Mutter GL, Crum CP.
 タイトル      Biomarkers in diagnostic obstetric and gynecologic pathology: a review.
 雑誌        Adv Anat Pathol 10:55-68 (2003)
 DOI:10.1097/00125480-200303000-00001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00029"">H00029</a>",外陰癌,"Vulvar cancer is a relatively uncommon malignancy, occurring at a rate of 2.2 per 100,000 women per year. Squamous cell carcinoma (SCC) is the most common type of vulvar cancer and is observed in 80% to 90% of cases. There are at least two quite different types of SCC of the vulva. The less common, accounting for about one-third of cases, occurs in relatively young women, is usually preceded by the undifferentiated form of vulvar squamous intraepithelial neoplasia (VIN) and is associated with high-risk human papillomavirus (HPV) infection; the more frequent form develops in elderly patients, is not commonly associated with undifferentiated VIN but is frequently associated with differentiated VIN, lichen sclerosus or squamous hyperplasia, and is generally not linked to HPV infection. Relatively little is known about molecular changes in the genesis of vulvar cancer. Some studies suggest that early p53 mutation may be a defining step only in HPV-negative tumors. A rather small study suggests that mutation in phosphatase and tensin homologue (PTEN) is an early change in a substantial subset of vulvar carcinomas.",,"PTEN (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,"Azathioprine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06837"">C06837</a>]
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]
 Human papillomavirus type 18 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a>]","組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10192"">D10192</a>]",,"ICD-11: 2C70
 ICD-10: C51
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014846"">D014846</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12605639"">12605639</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Fox H, Wells M
 タイトル      Recent advances in the pathology of the vulva.
 雑誌        Histopathology 42:209-16 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2559.2003.01578.x"">10.1046/j.1365-2559.2003.01578.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19286150"">19286150</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Lanneau GS, Argenta PA, Lanneau MS, Riffenburgh RH, Gold MA, McMeekin DS, Webster N, Judson PL
 タイトル      Vulvar cancer in young women: demographic features and outcome evaluation.
 雑誌        Am J Obstet Gynecol 200:645.e1-5 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajog.2009.01.014"">10.1016/j.ajog.2009.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10955808"">10955808</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Holway AH, Rieger-Christ KM, Miner WR, Cain JW, Dugan JM, Pezza JA, Silverman ML, Shapter A, McLellan R, Summerhayes IC.
 タイトル      Somatic mutation of PTEN in vulvar cancer.
 雑誌        Clin Cancer Res 6:3228-35 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11156383"">11156383</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Brooks LA, Tidy JA, Gusterson B, Hiller L, O'Nions J, Gasco M, Marin MC, Farrell PJ, Kaelin WG Jr, Crook T.
 タイトル      Preferential retention of codon 72 arginine p53 in squamous cell carcinomas of the vulva occurs in cancers positive and negative for human papillomavirus.
 雑誌        Cancer Res 60:6875-7 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15203746"">15203746</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Marjoniemi VM.
 タイトル      Immunohistochemistry in gynaecological pathology: a review.
 雑誌        Pathology 36:109-19 (2004)
 DOI:<a href=""https://doi.org/10.1080/00313020410001671948"">10.1080/00313020410001671948</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11281434"">11281434</a> (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:<a href=""https://doi.org/10.1177/120347540100500110"">10.1177/120347540100500110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1311142"">1311142</a> (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:<a href=""https://doi.org/10.1093/oxfordjournals.aje.a116270"">10.1093/oxfordjournals.aje.a116270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16062089"">16062089</a> (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.coc.0000168670.28659.8d"">10.1097/01.coc.0000168670.28659.8d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12605088"">12605088</a> (marker)
 著者        Nucci MR, Castrillon DH, Bai H, Quade BJ, Ince TA, Genest DR, Lee KR, Mutter GL, Crum CP.
 タイトル      Biomarkers in diagnostic obstetric and gynecologic pathology: a review.
 雑誌        Adv Anat Pathol 10:55-68 (2003)
 DOI:<a href=""https://doi.org/10.1097/00125480-200303000-00001"">10.1097/00125480-200303000-00001</a>"
H00030,子宮頸癌,,,"Cervical cancer is the second largest cause of cancer-related death in women worldwide, and it occurs following persistent infection, sometimes for decades, with a specific subset of human papillomavirus (HPV) types, particularly types 16, 18, 33 and 42. Experimental studies show that the E6 and E7 genes of these high risk HPVs are oncogenes that deregulate key cell cycle controls. The E6 and E7 oncoproteins bind respectively to the p53 and Retinoblastoma (Rb) tumor suppressor proteins, which are involved in the regulation of growth control. The abnormalities in other cellular genes found in cervical cancer, including mutations in ras family of genes, and amplification in EGFR and ERBB2, may also play an important role in carcinogenesis and the aggressiveness of cervical tumors, although to date the role of most of these genetic abnormalities does not appear to be as important as the role of HPV.",がん,"nt06110  MAPK signaling (viruses and bacteria)
 nt06114  PI3K signaling (viruses)
 nt06116  NOTCH signaling (viruses)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06140  Transcription (viruses)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06166  Human papillomavirus (HPV)","K-ras (mutation) [HSA:3845] [KO:K07827]
 H-ras (mutation) [HSA:3265] [KO:K02833]
 EGFR (amplification) [HSA:1956] [KO:K04361]
 ERBB2 (amplification) [HSA:2064] [KO:K05083]
 p21 (overexpression) [HSA:1026] [KO:K06625]
 CDK4 (overexpression) [HSA:1019] [KO:K02089]
 Bcl-2 (overexpression) [HSA:596] [KO:K02161]",,,"Azathioprine [CPD:C06837]
 Diethylstilboestrol [CPD:C07620]
 Estrogens, nonsteroidal
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:T40087]
 Human papillomavirus type 18 [GN:T40088]","シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 フルオロウラシル [DR:D00584]
 ドキシフルリジン [DR:D01309]
 シタラビン [DR:D00168]
 テガフール・ウラシル [DR:D02131]
 マイトマイシンC [DR:D00208]
 ブレオマイシン塩酸塩 [DR:D03229]
 ピラルビシン塩酸塩 [DR:D08386]
 エトポシド [DR:D00125]
 パクリタキセル [DR:D00491]
 ノギテカン塩酸塩 [DR:D02168]
 イリノテカン塩酸塩水和物 [DR:D01061]
 ベバシズマブ [DR:D06409]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ネダプラチン [DR:D01416]
 組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:D10192]
 組換え沈降2価ヒトパピローマウイルス様粒子ワクチン [DR:D10212]
 組換え沈降9価ヒトバピローマウイルス様粒子ワクチン [DR:D11863]",,"ICD-11: 2C77
 ICD-10: C53
 MeSH: D002583","PMID:11486705 (gene, carcinogen)
 著者        Wolf JK, Ramirez PT.
 タイトル      The molecular biology of cervical cancer.
 雑誌        Cancer Invest 19:621-9 (2001)
 DOI:10.1081/CNV-100104290
 PMID:10471054 (gene, carcinogen)
 著者        Lazo PA.
 タイトル      The molecular genetics of cervical carcinoma.
 雑誌        Br J Cancer 80:2008-18 (1999)
 DOI:10.1038/sj.bjc.6690635
 PMID:16062089 (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:10.1097/01.coc.0000168670.28659.8d
 PMID:15168959 (carcinogen)
 著者        Schrager S, Potter BE.
 タイトル      Diethylstilbestrol exposure.
 雑誌        Am Fam Physician 69:2395-400 (2004)
 PMID:17390375 (carcinogen)
 著者        Troisi R, Hatch EE, Titus-Ernstoff L, Hyer M, Palmer JR, Robboy SJ, Strohsnitter WC, Kaufman R, Herbst AL, Hoover RN.
 タイトル      Cancer risk in women prenatally exposed to diethylstilbestrol.
 雑誌        Int J Cancer 121:356-60 (2007)
 DOI:10.1002/ijc.22631
 PMID:11281434 (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:10.1177/120347540100500110
 PMID:15489140 (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:10.1016/j.semcancer.2004.06.010
 PMID:15552776 (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:10.1016/j.lungcan.2004.07.998
 PMID:12612656 (marker)
 著者        Baldwin P, Laskey R, Coleman N.
 タイトル      Translational approaches to improving cervical screening.
 雑誌        Nat Rev Cancer 3:217-26 (2003)
 DOI:10.1038/nrc1010
 PMID:12797857 (marker)
 著者        Garland SM.
 タイトル      Can we really beat cervical cancer?
 雑誌        Med J Aust 178:647-9 (2003)
 DOI:10.5694/j.1326-5377.2003.tb05396.x
 PMID:14739059 (marker)
 著者        Gadducci A, Cosio S, Carpi A, Nicolini A, Genazzani AR.
 タイトル      Serum tumor markers in the management of ovarian, endometrial and cervical cancer.
 雑誌        Biomed Pharmacother 58:24-38 (2004)
 DOI:10.1016/j.biopha.2003.11.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00030"">H00030</a>",子宮頸癌,"Cervical cancer is the second largest cause of cancer-related death in women worldwide, and it occurs following persistent infection, sometimes for decades, with a specific subset of human papillomavirus (HPV) types, particularly types 16, 18, 33 and 42. Experimental studies show that the E6 and E7 genes of these high risk HPVs are oncogenes that deregulate key cell cycle controls. The E6 and E7 oncoproteins bind respectively to the p53 and Retinoblastoma (Rb) tumor suppressor proteins, which are involved in the regulation of growth control. The abnormalities in other cellular genes found in cervical cancer, including mutations in ras family of genes, and amplification in EGFR and ERBB2, may also play an important role in carcinogenesis and the aggressiveness of cervical tumors, although to date the role of most of these genetic abnormalities does not appear to be as important as the role of HPV.","<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06116"">nt06116</a>  NOTCH signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06166"">nt06166</a>  Human papillomavirus (HPV)","K-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 H-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 EGFR (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 ERBB2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 p21 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1026"">1026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06625"">K06625</a>]
 CDK4 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1019"">1019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02089"">K02089</a>]
 Bcl-2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]",,,"Azathioprine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06837"">C06837</a>]
 Diethylstilboestrol [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07620"">C07620</a>]
 Estrogens, nonsteroidal
 Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]
 Human papillomavirus type 18 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a>]","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 ドキシフルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01309"">D01309</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ノギテカン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02168"">D02168</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10192"">D10192</a>]
 組換え沈降2価ヒトパピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10212"">D10212</a>]
 組換え沈降9価ヒトバピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11863"">D11863</a>]",,"ICD-11: 2C77
 ICD-10: C53
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002583"">D002583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11486705"">11486705</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Wolf JK, Ramirez PT.
 タイトル      The molecular biology of cervical cancer.
 雑誌        Cancer Invest 19:621-9 (2001)
 DOI:<a href=""https://doi.org/10.1081/CNV-100104290"">10.1081/CNV-100104290</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10471054"">10471054</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Lazo PA.
 タイトル      The molecular genetics of cervical carcinoma.
 雑誌        Br J Cancer 80:2008-18 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.bjc.6690635"">10.1038/sj.bjc.6690635</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16062089"">16062089</a> (carcinogen)
 著者        Patel P, Moazzam N, Potti A, Mehdi SA.
 タイトル      Azathioprine induced hodgkin lymphoma: a case report and review of literature.
 雑誌        Am J Clin Oncol 28:427-8 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.coc.0000168670.28659.8d"">10.1097/01.coc.0000168670.28659.8d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15168959"">15168959</a> (carcinogen)
 著者        Schrager S, Potter BE.
 タイトル      Diethylstilbestrol exposure.
 雑誌        Am Fam Physician 69:2395-400 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17390375"">17390375</a> (carcinogen)
 著者        Troisi R, Hatch EE, Titus-Ernstoff L, Hyer M, Palmer JR, Robboy SJ, Strohsnitter WC, Kaufman R, Herbst AL, Hoover RN.
 タイトル      Cancer risk in women prenatally exposed to diethylstilbestrol.
 雑誌        Int J Cancer 121:356-60 (2007)
 DOI:<a href=""https://doi.org/10.1002/ijc.22631"">10.1002/ijc.22631</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11281434"">11281434</a> (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:<a href=""https://doi.org/10.1177/120347540100500110"">10.1177/120347540100500110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489140"">15489140</a> (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.semcancer.2004.06.010"">10.1016/j.semcancer.2004.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15552776"">15552776</a> (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.lungcan.2004.07.998"">10.1016/j.lungcan.2004.07.998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12612656"">12612656</a> (marker)
 著者        Baldwin P, Laskey R, Coleman N.
 タイトル      Translational approaches to improving cervical screening.
 雑誌        Nat Rev Cancer 3:217-26 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1010"">10.1038/nrc1010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12797857"">12797857</a> (marker)
 著者        Garland SM.
 タイトル      Can we really beat cervical cancer?
 雑誌        Med J Aust 178:647-9 (2003)
 DOI:<a href=""https://doi.org/10.5694/j.1326-5377.2003.tb05396.x"">10.5694/j.1326-5377.2003.tb05396.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14739059"">14739059</a> (marker)
 著者        Gadducci A, Cosio S, Carpi A, Nicolini A, Genazzani AR.
 タイトル      Serum tumor markers in the management of ovarian, endometrial and cervical cancer.
 雑誌        Biomed Pharmacother 58:24-38 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.biopha.2003.11.003"">10.1016/j.biopha.2003.11.003</a>"
H00031,乳癌,,,"Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are based on the presence or absence of hormone receptors (estrogen and progesterone subtypes) and human epidermal growth factor receptor-2 (HER2), include: hormone receptor positive and HER2 negative (luminal A subtype), hormone receptor positive and HER2 positive (luminal B subtype), hormone receptor negative and HER2 positive (HER2 positive), and hormone receptor negative and HER2 negative (basal-like or triple-negative breast cancers (TNBCs)). Hormone receptor positive breast cancers are largely driven by the estrogen/ER pathway. In HER2 positive breast tumours, HER2 activates the PI3K/AKT and the RAS/RAF/MAPK pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch and Wnt/beta-catenin), EGFR protein have been confirmed. In the case of breast cancer only 8% of all cancers are hereditary, a phenomenon linked to genetic changes in BRCA1 or BRCA2. Somatic mutations in only three genes (TP53, PIK3CA and GATA3) occurred at >10% incidence across all breast cancers.",がん,nt06270  Breast cancer,"BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
 BRCA2 [HSA:675] [KO:K08775]
 BARD1 [HSA:580] [KO:K10683]
 BRIP1 [HSA:83990] [KO:K15362]
 PALB2 [HSA:79728] [KO:K10897]
 RAD51 [HSA:5888] [KO:K04482]
 RAD54L [HSA:8438] [KO:K10875]
 XRCC3 [HSA:7517] [KO:K10880]
 ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
 ESR1/ER1 [HSA:2099] [KO:K08550]
 PGR [HSA:5241] [KO:K08556]
 GATA3 [HSA:2625] [KO:K17895]
 PIK3CA [HSA:5290] [KO:K00922]
 TP53 [HSA:7157] [KO:K04451]
 PPM1D [HSA:8493] [KO:K10147]
 RB1CC1 [HSA:9821] [KO:K17589]
 HMMR [HSA:3161] [KO:K06267]
 NQO2 [HSA:4835] [KO:K08071]
 SLC22A18 [HSA:5002] [KO:K08214]
 PTEN [HSA:5728] [KO:K01110]
 EGFR (overexpression) [HSA:1956] [KO:K04361]
 KIT (overexpression) [HSA:3815] [KO:K05091]
 NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
 NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
 FZD7 (overexpression) [HSA:8324] [KO:K02432]
 LRP6 (overexpression) [HSA:4040] [KO:K03068]
 FGFR1 (amplification) [HSA:2260] [KO:K04362]
 CCND1 (amplification) [HSA:595] [KO:K04503]",,,"Estrogen-progestogen menopausal therapy (combined)
 Estrogen-progestogen oral contraceptives (combined)
 Estrogen therapy, postmenopausal
 Oral contraceptives, sequential
 Radium-224 and its decay products
 X- and gamma-radiation","デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 エチニルエストラジオール [DR:D00554]
 メドロキシプロゲステロン酢酸エステル [DR:D00951]
 リュープロレリン酢酸塩 [DR:D00989]
 ゴセレリン酢酸塩 [DR:D00573]
 メピチオスタン [DR:D01602]
 メトトレキサート [DR:D00142]
 エベロリムス [DR:D02714]
 シクロホスファミド水和物 [DR:D00287]
 フルオロウラシル [DR:D00584]
 テガフール [DR:D01244]
 カペシタビン [DR:D01223]
 ドキシフルリジン [DR:D01309]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビノレルビン酒石酸塩 [DR:D01935]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 イリノテカン塩酸塩水和物 [DR:D01061]
 ミトキサントロン塩酸塩 [DR:D02166]
 パルボシクリブ [DR:D10372] (ホルモン受容体陽性, HER2陰性)
 アベマシクリブ [DR:D10688] (ホルモン受容体陽性, HER2陰性)
 ラパチニブトシル酸塩水和物 [DR:D04024] (HER2過剰発現)
 トラスツズマブ [DR:D03257] (HER2過剰発現)
 ペルツズマブ [DR:D05446] (HER2陽性)
 トラスツズマブエムタンシン [DR:D09980] (HER2陽性)
 トラスツズマブデルクステカン [DR:D11529] (HER2陽性)
 ペムブロリズマブ [DR:D10574] (PD-L1陽性, ホルモン受容体陰性, HER2陰性)
 アテゾリズマブ [DR:D10773] (PD-L1陽性, ホルモン受容体陰性, HER2陰性)
 ベバシズマブ [DR:D06409]
 カルボプラチン [DR:D01363]
 オラパリブ [DR:D09730] (BRCA遺伝子変異陽性, HER2陰性)
 エリブリンメシル酸塩 [DR:D08914]
 タモキシフェンクエン酸塩 [DR:D00966]
 トレミフェンクエン酸塩 [DR:D00967]
 フルベストラント [DR:D01161]
 アナストロゾール [DR:D00960]
 レトロゾール [DR:D00964]
 エキセメスタン [DR:D00963]",,"ICD-11: 2C61
 ICD-10: C50
 MeSH: D001943
 OMIM: 114480","PMID:28976962 (BRCA1, BARD1, RAD51)
 著者        Zhao W, Steinfeld JB, Liang F, Chen X, Maranon DG, Jian Ma C, Kwon Y, Rao T, Wang W, Sheng C, Song X, Deng Y, Jimenez-Sainz J, Lu L, Jensen RB, Xiong Y, Kupfer GM, Wiese C, Greene EC, Sung P
 タイトル      BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
 雑誌        Nature 550:360-365 (2017)
 DOI:10.1038/nature24060
 PMID:9425226 (BARD1)
 著者        Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF, Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R, Bowcock AM
 タイトル      Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
 雑誌        Hum Mol Genet 7:195-202 (1998)
 DOI:10.1093/hmg/7.2.195
 PMID:29368626 (BRIP1)
 著者        Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blumcke B, Gehrig A, Kahlert AK, Muller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmuller J, Neidhardt G, Nurnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E
 タイトル      BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
 雑誌        Breast Cancer Res 20:7 (2018)
 DOI:10.1186/s13058-018-0935-9
 PMID:24556926 (PALB2)
 著者        Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P
 タイトル      PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
 雑誌        Genet Med 16:688-94 (2014)
 DOI:10.1038/gim.2014.13
 PMID:10362365 (RAD54L)
 著者        Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
 タイトル      Mutations in the RAD54 recombination gene in primary cancers.
 雑誌        Oncogene 18:3427-30 (1999)
 DOI:10.1038/sj.onc.1202692
 PMID:12023982 (XRCC3)
 著者        Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A
 タイトル      Variants in DNA double-strand break repair genes and breast cancer susceptibility.
 雑誌        Hum Mol Genet 11:1399-407 (2002)
 DOI:10.1093/hmg/11.12.1399
 PMID:10448115 (MYC, BRCA1, BRCA2, TP53, ERBB2)
 著者        Ingvarsson S.
 タイトル      Molecular genetics of breast cancer progression.
 雑誌        Semin Cancer Biol 9:277-88 (1999)
 DOI:10.1006/scbi.1999.0124
 PMID:31106278 (ESR1, PIK3CA)
 著者        Lei JT, Gou X, Seker S, Ellis MJ
 タイトル      ESR1 alterations and metastasis in estrogen receptor positive breast cancer.
 雑誌        J Cancer Metastasis Treat 5:38 (2019)
 DOI:10.20517/2394-4722.2019.12
 PMID:29302853 (PGR)
 著者        Ghali RM, Al-Mutawa MA, Ebrahim BH, Jrah HH, Zaied S, Bhiri H, Hmila F, Mahjoub T, Almawi WY
 タイトル      Progesterone Receptor (PGR) Gene Variants Associated with Breast Cancer and Associated Features: a Case-Control Study.
 雑誌        Pathol Oncol Res 26:141-147 (2020)
 DOI:10.1007/s12253-017-0379-z
 PMID:23000897 (TP53, PIK3CA, GATA3)
 タイトル      Comprehensive molecular portraits of human breast tumours.
 雑誌        Nature 490:61-70 (2012)
 DOI:10.1038/nature11412
 PMID:21203526 (RB1CC1, TP53)
 著者        Chano T, Ikebuchi K, Tomita Y, Jin Y, Inaji H, Ishitobi M, Teramoto K, Ochi Y, Tameno H, Nishimura I, Minami K, Inoue H, Isono T, Saitoh M, Shimada T, Hisa Y, Okabe H
 タイトル      RB1CC1 together with RB1 and p53 predicts long-term survival in Japanese breast cancer patients.
 雑誌        PLoS One 5:e15737 (2010)
 DOI:10.1371/journal.pone.0015737
 PMID:32231069 (HMMR)
 著者        He Z, Mei L, Connell M, Maxwell CA
 タイトル      Hyaluronan Mediated Motility Receptor () Encodes an Evolutionarily Conserved Homeostasis, Mitosis, and Meiosis Regulator Rather than a Hyaluronan Receptor.
 雑誌        Cells 9:E819 (2020)
 DOI:10.3390/cells9040819
 PMID:19351655 (NQO2)
 著者        Yu KD, Di GH, Yuan WT, Fan L, Wu J, Hu Z, Shen ZZ, Zheng Y, Huang W, Shao ZM
 タイトル      Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.
 雑誌        Hum Mol Genet 18:2502-17 (2009)
 DOI:10.1093/hmg/ddp171
 PMID:23242139 (PPM1D)
 著者        Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA, Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N
 タイトル      Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
 雑誌        Nature 493:406-10 (2013)
 DOI:10.1038/nature11725
 PMID:9520460 (SLC22A18)
 著者        Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M
 タイトル      Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor  samples.
 雑誌        Proc Natl Acad Sci U S A 95:3873-8 (1998)
 DOI:10.1073/pnas.95.7.3873
 PMID:27390604
 著者        Dai X, Xiang L, Li T, Bai Z
 タイトル      Cancer Hallmarks, Biomarkers and Breast Cancer Molecular Subtypes.
 雑誌        J Cancer 7:1281-94 (2016)
 DOI:10.7150/jca.13141
 PMID:24649067
 著者        Zhang MH, Man HT, Zhao XD, Dong N, Ma SL
 タイトル      Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review).
 雑誌        Biomed Rep 2:41-52 (2014)
 DOI:10.3892/br.2013.187
 PMID:19088017
 著者        Schneider BP, Winer EP, Foulkes WD, Garber J, Perou CM, Richardson A, Sledge GW, Carey LA
 タイトル      Triple-negative breast cancer: risk factors to potential targets.
 雑誌        Clin Cancer Res 14:8010-8 (2008)
 DOI:10.1158/1078-0432.CCR-08-1208
 PMID:21898546
 著者        King TD, Suto MJ, Li Y
 タイトル      The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer.
 雑誌        J Cell Biochem 113:13-8 (2012)
 DOI:10.1002/jcb.23350
 PMID:26040571 (EGFR, NOTCH1, NOTCH4, FZD7, LRP6)
 著者        Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N
 タイトル      Therapeutic targets of triple-negative breast cancer: a review.
 雑誌        Br J Pharmacol 172:4228-37 (2015)
 DOI:10.1111/bph.13211","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00031"">H00031</a>",乳癌,"Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are based on the presence or absence of hormone receptors (estrogen and progesterone subtypes) and human epidermal growth factor receptor-2 (HER2), include: hormone receptor positive and HER2 negative (luminal A subtype), hormone receptor positive and HER2 positive (luminal B subtype), hormone receptor negative and HER2 positive (HER2 positive), and hormone receptor negative and HER2 negative (basal-like or triple-negative breast cancers (TNBCs)). Hormone receptor positive breast cancers are largely driven by the estrogen/ER pathway. In HER2 positive breast tumours, HER2 activates the PI3K/AKT and the RAS/RAF/MAPK pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch and Wnt/beta-catenin), EGFR protein have been confirmed. In the case of breast cancer only 8% of all cancers are hereditary, a phenomenon linked to genetic changes in BRCA1 or BRCA2. Somatic mutations in only three genes (TP53, PIK3CA and GATA3) occurred at >10% incidence across all breast cancers.","<a href=""https://www.kegg.jp/network/nt06270"">nt06270</a>  Breast cancer","BRCA1 (germline mutation, hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 BARD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:580"">580</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10683"">K10683</a>]
 BRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83990"">83990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15362"">K15362</a>]
 PALB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79728"">79728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10897"">K10897</a>]
 RAD51 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5888"">5888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04482"">K04482</a>]
 RAD54L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8438"">8438</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10875"">K10875</a>]
 XRCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7517"">7517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10880"">K10880</a>]
 ERBB2/HER2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 ESR1/ER1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2099"">2099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08550"">K08550</a>]
 PGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5241"">5241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08556"">K08556</a>]
 GATA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2625"">2625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17895"">K17895</a>]
 PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 PPM1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8493"">8493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10147"">K10147</a>]
 RB1CC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9821"">9821</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17589"">K17589</a>]
 HMMR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3161"">3161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06267"">K06267</a>]
 NQO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4835"">4835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08071"">K08071</a>]
 SLC22A18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5002"">5002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08214"">K08214</a>]
 PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 KIT (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 NOTCH1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4851"">4851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02599"">K02599</a>]
 NOTCH4 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4855"">4855</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20996"">K20996</a>]
 FZD7 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8324"">8324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02432"">K02432</a>]
 LRP6 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4040"">4040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 FGFR1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 CCND1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]",,,"Estrogen-progestogen menopausal therapy (combined)
 Estrogen-progestogen oral contraceptives (combined)
 Estrogen therapy, postmenopausal
 Oral contraceptives, sequential
 Radium-224 and its decay products
 X- and gamma-radiation","デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 エチニルエストラジオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00554"">D00554</a>]
 メドロキシプロゲステロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00951"">D00951</a>]
 リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]
 ゴセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00573"">D00573</a>]
 メピチオスタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01602"">D01602</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 テガフール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01244"">D01244</a>]
 カペシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01223"">D01223</a>]
 ドキシフルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01309"">D01309</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビノレルビン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01935"">D01935</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 パルボシクリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10372"">D10372</a>] (ホルモン受容体陽性, HER2陰性)
 アベマシクリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10688"">D10688</a>] (ホルモン受容体陽性, HER2陰性)
 ラパチニブトシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04024"">D04024</a>] (HER2過剰発現)
 トラスツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03257"">D03257</a>] (HER2過剰発現)
 ペルツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05446"">D05446</a>] (HER2陽性)
 トラスツズマブエムタンシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09980"">D09980</a>] (HER2陽性)
 トラスツズマブデルクステカン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11529"">D11529</a>] (HER2陽性)
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>] (PD-L1陽性, ホルモン受容体陰性, HER2陰性)
 アテゾリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10773"">D10773</a>] (PD-L1陽性, ホルモン受容体陰性, HER2陰性)
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 オラパリブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09730"">D09730</a>] (BRCA遺伝子変異陽性, HER2陰性)
 エリブリンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08914"">D08914</a>]
 タモキシフェンクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00966"">D00966</a>]
 トレミフェンクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00967"">D00967</a>]
 フルベストラント [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01161"">D01161</a>]
 アナストロゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00960"">D00960</a>]
 レトロゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00964"">D00964</a>]
 エキセメスタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00963"">D00963</a>]",,"ICD-11: 2C61
 ICD-10: C50
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001943"">D001943</a>
 OMIM: <a href=""https://www.omim.org/entry/114480"">114480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28976962"">28976962</a> (BRCA1, <a href=""https://pubmed.ncbi.nlm.nih.gov/BARD1,"">BARD1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RAD51)"">RAD51)</a>
 著者        Zhao W, Steinfeld JB, Liang F, Chen X, Maranon DG, Jian Ma C, Kwon Y, Rao T, Wang W, Sheng C, Song X, Deng Y, Jimenez-Sainz J, Lu L, Jensen RB, Xiong Y, Kupfer GM, Wiese C, Greene EC, Sung P
 タイトル      BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
 雑誌        Nature 550:360-365 (2017)
 DOI:<a href=""https://doi.org/10.1038/nature24060"">10.1038/nature24060</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9425226"">9425226</a> (BARD1)
 著者        Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF, Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R, Bowcock AM
 タイトル      Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
 雑誌        Hum Mol Genet 7:195-202 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.2.195"">10.1093/hmg/7.2.195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29368626"">29368626</a> (BRIP1)
 著者        Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blumcke B, Gehrig A, Kahlert AK, Muller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmuller J, Neidhardt G, Nurnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E
 タイトル      BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
 雑誌        Breast Cancer Res 20:7 (2018)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24556926"">24556926</a> (PALB2)
 著者        Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P
 タイトル      PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
 雑誌        Genet Med 16:688-94 (2014)
 DOI:<a href=""https://doi.org/10.1038/gim.2014.13"">10.1038/gim.2014.13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10362365"">10362365</a> (RAD54L)
 著者        Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
 タイトル      Mutations in the RAD54 recombination gene in primary cancers.
 雑誌        Oncogene 18:3427-30 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1202692"">10.1038/sj.onc.1202692</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12023982"">12023982</a> (XRCC3)
 著者        Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A
 タイトル      Variants in DNA double-strand break repair genes and breast cancer susceptibility.
 雑誌        Hum Mol Genet 11:1399-407 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.12.1399"">10.1093/hmg/11.12.1399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10448115"">10448115</a> (MYC, <a href=""https://pubmed.ncbi.nlm.nih.gov/BRCA1,"">BRCA1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BRCA2,"">BRCA2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ERBB2)"">ERBB2)</a>
 著者        Ingvarsson S.
 タイトル      Molecular genetics of breast cancer progression.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31106278"">31106278</a> (ESR1, <a href=""https://pubmed.ncbi.nlm.nih.gov/PIK3CA)"">PIK3CA)</a>
 著者        Lei JT, Gou X, Seker S, Ellis MJ
 タイトル      ESR1 alterations and metastasis in estrogen receptor positive breast cancer.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29302853"">29302853</a> (PGR)
 著者        Ghali RM, Al-Mutawa MA, Ebrahim BH, Jrah HH, Zaied S, Bhiri H, Hmila F, Mahjoub T, Almawi WY
 タイトル      Progesterone Receptor (PGR) Gene Variants Associated with Breast Cancer and Associated Features: a Case-Control Study.
 雑誌        Pathol Oncol Res 26:141-147 (2020)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000897"">23000897</a> (TP53, <a href=""https://pubmed.ncbi.nlm.nih.gov/PIK3CA,"">PIK3CA,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GATA3)"">GATA3)</a>
 タイトル      Comprehensive molecular portraits of human breast tumours.
 雑誌        Nature 490:61-70 (2012)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21203526"">21203526</a> (RB1CC1, <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53)"">TP53)</a>
 著者        Chano T, Ikebuchi K, Tomita Y, Jin Y, Inaji H, Ishitobi M, Teramoto K, Ochi Y, Tameno H, Nishimura I, Minami K, Inoue H, Isono T, Saitoh M, Shimada T, Hisa Y, Okabe H
 タイトル      RB1CC1 together with RB1 and p53 predicts long-term survival in Japanese breast cancer patients.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32231069"">32231069</a> (HMMR)
 著者        He Z, Mei L, Connell M, Maxwell CA
 タイトル      Hyaluronan Mediated Motility Receptor () Encodes an Evolutionarily Conserved Homeostasis, Mitosis, and Meiosis Regulator Rather than a Hyaluronan Receptor.
 雑誌        Cells 9:E819 (2020)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19351655"">19351655</a> (NQO2)
 著者        Yu KD, Di GH, Yuan WT, Fan L, Wu J, Hu Z, Shen ZZ, Zheng Y, Huang W, Shao ZM
 タイトル      Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23242139"">23242139</a> (PPM1D)
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 タイトル      Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor  samples.
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 タイトル      Triple-negative breast cancer: risk factors to potential targets.
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 雑誌        J Cell Biochem 113:13-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/jcb.23350"">10.1002/jcb.23350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26040571"">26040571</a> (EGFR, <a href=""https://pubmed.ncbi.nlm.nih.gov/NOTCH1,"">NOTCH1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NOTCH4,"">NOTCH4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FZD7,"">FZD7,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LRP6)"">LRP6)</a>
 著者        Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N
 タイトル      Therapeutic targets of triple-negative breast cancer: a review.
 雑誌        Br J Pharmacol 172:4228-37 (2015)
 DOI:<a href=""https://doi.org/10.1111/bph.13211"">10.1111/bph.13211</a>"
H00032,"甲状腺癌
 下位グループ    非髄様甲状腺癌 (NMTC)
 上位グループ    固形腫瘍 [DS:H02421]",,,"Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular carcinomas (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. The most distinctive molecular features of FTC are the prominence of aneuploidy and the high prevalence of RAS mutations and PAX8-PPAR{gamma} rearrangements. p53 seems to play a crucial role in the dedifferentiation process of thyroid carcinoma.",がん,nt06274  Thyroid cancer,"RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288]
 RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289]
 TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290]
 TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290]
 TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290]
 PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530]
 KRAS [HSA:3845] [KO:K07827]
 HRAS [HSA:3265] [KO:K02833]
 NRAS [HSA:4893] [KO:K07828]
 BRAF [HSA:673] [KO:K04365]
 CTNNB1 [HSA:1499] [KO:K02105]
 TP53 [HSA:7157] [KO:K04451]
 CDH1 [HSA:999] [KO:K05689]
 MINPP1 [HSA:9562] [KO:K03103]
 (NMTC1) NKX2-1 [HSA:7080] [KO:K09342]
 (NMTC2) SRGAP1 [HSA:57522] [KO:K07526]
 (NMTC4) FOXE1 [HSA:2304] [KO:K09398]
 (NMTC5) HABP2 [HSA:3026] [KO:K08648]",,,"Radium-224 and its decay products [CPD:C16455]
 Radioiodines, short-lived isotopes, including iodine131, from atomic reactor accidents and nuclear","ブレオマイシン塩酸塩 [DR:D03229]
 ソラフェニブトシル酸塩 [DR:D06272]
 レンバチニブメシル酸塩 [DR:D09920]
 セルペルカチニブ [DR:D11713] (RET融合遺伝子陽性)
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]
 ヨウ化ナトリウム (131I) [DR:D02259]",,"ICD-11: 2D10
 ICD-10: C73
 MeSH: D013964
 OMIM: 188550 188470 616534 616535","PMID:11165748
 著者        Gimm O.
 タイトル      Thyroid cancer.
 雑誌        Cancer Lett 163:143-56 (2001)
 DOI:10.1016/S0304-3835(00)00697-2
 PMID:16557281 (RET/CCDC6, TPM3/NTRK1, TPR/NTRK1, TFG/NTRK1, BRAF, CTNNB1, TP53, CDH1)
 著者        Kondo T, Ezzat S, Asa SL.
 タイトル      Pathogenetic mechanisms in thyroid follicular-cell neoplasia.
 雑誌        Nat Rev Cancer 6:292-306 (2006)
 DOI:10.1038/nrc1836
 PMID:16189702 (RET/CCDC6, RET/NCOA4, PAX8/PPARG, KRAS, HRAS, NRAS)
 著者        Sobrinho-Simoes M, Preto A, Rocha AS, Castro P, Maximo V, Fonseca E, Soares P.
 タイトル      Molecular pathology of well-differentiated thyroid carcinomas.
 雑誌        Virchows Arch 447:787-93 (2005)
 DOI:10.1007/s00428-005-0065-5
 PMID:11297621 (MINPP1)
 著者        Gimm O, Chi H, Dahia PL, Perren A, Hinze R, Komminoth P, Dralle H, Reynolds PR, Eng C
 タイトル      Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
 雑誌        J Clin Endocrinol Metab 86:1801-5 (2001)
 DOI:10.1210/jcem.86.4.7419
 PMID:19176457 (NMTC1)
 著者        Ngan ES, Lang BH, Liu T, Shum CK, So MT, Lau DK, Leon TY, Cherny SS, Tsai SY, Lo CY, Khoo US, Tam PK, Garcia-Barcelo MM
 タイトル      A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
 雑誌        J Natl Cancer Inst 101:162-75 (2009)
 DOI:10.1093/jnci/djn471
 PMID:23539728 (NMTC2)
 著者        He H, Bronisz A, Liyanarachchi S, Nagy R, Li W, Huang Y, Akagi K, Saji M, Kula D, Wojcicka A, Sebastian N, Wen B, Puch Z, Kalemba M, Stachlewska E, Czetwertynska M, Dlugosinska J, Dymecka K, Ploski R, Krawczyk M, Morrison PJ, Ringel MD, Kloos RT, Jazdzewski K, Symer DE, Vieland VJ, Ostrowski M, Jarzab B, de la Chapelle A
 タイトル      SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
 雑誌        J Clin Endocrinol Metab 98:E973-80 (2013)
 DOI:10.1210/jc.2012-3823
 PMID:25381600 (NMTC4)
 著者        Pereira JS, da Silva JG, Tomaz RA, Pinto AE, Bugalho MJ, Leite V, Cavaco BM
 タイトル      Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).
 雑誌        Endocrine 49:204-14 (2015)
 DOI:10.1007/s12020-014-0470-0
 PMID:26222560 (NMTC5)
 著者        Gara SK, Jia L, Merino MJ, Agarwal SK, Zhang L, Cam M, Patel D, Kebebew E
 タイトル      Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.
 雑誌        N Engl J Med 373:448-55 (2015)
 DOI:10.1056/NEJMoa1502449","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00032"">H00032</a>","甲状腺癌
 下位グループ    非髄様甲状腺癌 (NMTC)
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular carcinomas (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. The most distinctive molecular features of FTC are the prominence of aneuploidy and the high prevalence of RAS mutations and PAX8-PPAR{gamma} rearrangements. p53 seems to play a crucial role in the dedifferentiation process of thyroid carcinoma.","<a href=""https://www.kegg.jp/network/nt06274"">nt06274</a>  Thyroid cancer","RET/CCDC6 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8030"">8030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09288"">K09288</a>]
 RET/NCOA4 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8031"">8031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09289"">K09289</a>]
 TPM3/NTRK1 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4914"">4914</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03176"">K03176</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]
 TPR/NTRK1 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7175"">7175</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09291"">K09291</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]
 TFG/NTRK1 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10342"">10342</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09292"">K09292</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]
 PAX8/PPARG (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7849"">7849</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5468"">5468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09293"">K09293</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08530"">K08530</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 HRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 CDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]
 MINPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9562"">9562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03103"">K03103</a>]
 (NMTC1) NKX2-1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7080"">7080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09342"">K09342</a>]
 (NMTC2) SRGAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57522"">57522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07526"">K07526</a>]
 (NMTC4) FOXE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2304"">2304</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]
 (NMTC5) HABP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3026"">3026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08648"">K08648</a>]",,,"Radium-224 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16455"">C16455</a>]
 Radioiodines, short-lived isotopes, including iodine131, from atomic reactor accidents and nuclear","ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ソラフェニブトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06272"">D06272</a>]
 レンバチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09920"">D09920</a>]
 セルペルカチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11713"">D11713</a>] (RET融合遺伝子陽性)
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]
 ヨウ化ナトリウム (131I) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02259"">D02259</a>]",,"ICD-11: 2D10
 ICD-10: C73
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013964"">D013964</a>
 OMIM: <a href=""https://www.omim.org/entry/188550"">188550</a> <a href=""https://www.omim.org/entry/188470"">188470</a> <a href=""https://www.omim.org/entry/616534"">616534</a> <a href=""https://www.omim.org/entry/616535"">616535</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11165748"">11165748</a>
 著者        Gimm O.
 タイトル      Thyroid cancer.
 雑誌        Cancer Lett 163:143-56 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0304-3835(00)00697-2"">10.1016/S0304-3835(00)00697-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16557281"">16557281</a> (RET/CCDC6, <a href=""https://pubmed.ncbi.nlm.nih.gov/TPM3/NTRK1,"">TPM3/NTRK1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TPR/NTRK1,"">TPR/NTRK1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TFG/NTRK1,"">TFG/NTRK1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BRAF,"">BRAF,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTNNB1,"">CTNNB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TP53,"">TP53,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDH1)"">CDH1)</a>
 著者        Kondo T, Ezzat S, Asa SL.
 タイトル      Pathogenetic mechanisms in thyroid follicular-cell neoplasia.
 雑誌        Nat Rev Cancer 6:292-306 (2006)
 DOI:<a href=""https://doi.org/10.1038/nrc1836"">10.1038/nrc1836</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16189702"">16189702</a> (RET/CCDC6, <a href=""https://pubmed.ncbi.nlm.nih.gov/RET/NCOA4,"">RET/NCOA4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PAX8/PPARG,"">PAX8/PPARG,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KRAS,"">KRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HRAS,"">HRAS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NRAS)"">NRAS)</a>
 著者        Sobrinho-Simoes M, Preto A, Rocha AS, Castro P, Maximo V, Fonseca E, Soares P.
 タイトル      Molecular pathology of well-differentiated thyroid carcinomas.
 雑誌        Virchows Arch 447:787-93 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00428-005-0065-5"">10.1007/s00428-005-0065-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11297621"">11297621</a> (MINPP1)
 著者        Gimm O, Chi H, Dahia PL, Perren A, Hinze R, Komminoth P, Dralle H, Reynolds PR, Eng C
 タイトル      Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
 雑誌        J Clin Endocrinol Metab 86:1801-5 (2001)
 DOI:<a href=""https://doi.org/10.1210/jcem.86.4.7419"">10.1210/jcem.86.4.7419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19176457"">19176457</a> (NMTC1)
 著者        Ngan ES, Lang BH, Liu T, Shum CK, So MT, Lau DK, Leon TY, Cherny SS, Tsai SY, Lo CY, Khoo US, Tam PK, Garcia-Barcelo MM
 タイトル      A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
 雑誌        J Natl Cancer Inst 101:162-75 (2009)
 DOI:<a href=""https://doi.org/10.1093/jnci/djn471"">10.1093/jnci/djn471</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23539728"">23539728</a> (NMTC2)
 著者        He H, Bronisz A, Liyanarachchi S, Nagy R, Li W, Huang Y, Akagi K, Saji M, Kula D, Wojcicka A, Sebastian N, Wen B, Puch Z, Kalemba M, Stachlewska E, Czetwertynska M, Dlugosinska J, Dymecka K, Ploski R, Krawczyk M, Morrison PJ, Ringel MD, Kloos RT, Jazdzewski K, Symer DE, Vieland VJ, Ostrowski M, Jarzab B, de la Chapelle A
 タイトル      SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
 雑誌        J Clin Endocrinol Metab 98:E973-80 (2013)
 DOI:<a href=""https://doi.org/10.1210/jc.2012-3823"">10.1210/jc.2012-3823</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25381600"">25381600</a> (NMTC4)
 著者        Pereira JS, da Silva JG, Tomaz RA, Pinto AE, Bugalho MJ, Leite V, Cavaco BM
 タイトル      Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).
 雑誌        Endocrine 49:204-14 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12020-014-0470-0"">10.1007/s12020-014-0470-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26222560"">26222560</a> (NMTC5)
 著者        Gara SK, Jia L, Merino MJ, Agarwal SK, Zhang L, Cam M, Patel D, Kebebew E
 タイトル      Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.
 雑誌        N Engl J Med 373:448-55 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1502449"">10.1056/NEJMoa1502449</a>"
H00033,副腎癌,,,"Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges from 0.5 to 2 cases per million people per year, accounting for 0.02% of all reported cancers. Unfortunately, most patients present with metastatic disease which reduces the 5 year survival rate to less than 10%. Oncogenes and tumor-suppressor genes involved in adrenal carcinomas include mutations in the p53 tumor-suppressor gene and rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH receptor gene have recently been found in undifferentiated adenomas and in aggressive ACCs.",がん,,"ACTH-R (deletion) [HSA:4158] [KO:K04200]
 GNAI2 (mutation) [HSA:2771] [KO:K04630]
 N-ras (mutation) [HSA:4893] [KO:K07828]
 IGF II (overexpression) [HSA:3481] [KO:K13769]
 p53 (LOH, mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
 MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]",,,,ミトタン [DR:D00420],,"ICD-11: 2D11
 ICD-10: C74
 MeSH: D000306","PMID:17934868 (description, tumor type)
 著者        Barlaskar FM, Hammer GD
 タイトル      The molecular genetics of adrenocortical carcinoma.
 雑誌        Rev Endocr Metab Disord 8:343-8 (2007)
 DOI:10.1007/s11154-007-9057-x
 PMID:11281372 (description, gene, tumor type)
 著者        Reincke M, Beuschlein F, Slawik M, Borm K.
 タイトル      Molecular adrenocortical tumourigenesis.
 雑誌        Eur J Clin Invest 30 Suppl 3:63-8 (2000)
 DOI:10.1046/j.1365-2362.2000.0300s3063.x
 PMID:12920217 (marker, tumor type)
 著者        Stojadinovic A, Brennan MF, Hoos A, Omeroglu A, Leung DH, Dudas ME, Nissan A, Cordon-Cardo C, Ghossein RA.
 タイトル      Adrenocortical adenoma and carcinoma: histopathological and molecular comparative analysis.
 雑誌        Mod Pathol 16:742-51 (2003)
 DOI:10.1097/01.MP.0000081730.72305.81
 PMID:12466322
 著者        Koch CA, Pacak K, Chrousos GP.
 タイトル      The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors.
 雑誌        J Clin Endocrinol Metab 87:5367-84 (2002)
 DOI:10.1210/jc.2002-021069","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00033"">H00033</a>",副腎癌,"Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges from 0.5 to 2 cases per million people per year, accounting for 0.02% of all reported cancers. Unfortunately, most patients present with metastatic disease which reduces the 5 year survival rate to less than 10%. Oncogenes and tumor-suppressor genes involved in adrenal carcinomas include mutations in the p53 tumor-suppressor gene and rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH receptor gene have recently been found in undifferentiated adenomas and in aggressive ACCs.",,"ACTH-R (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4158"">4158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04200"">K04200</a>]
 GNAI2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2771"">2771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04630"">K04630</a>]
 N-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 IGF II (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3481"">3481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13769"">K13769</a>]
 p53 (LOH, mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (LOH, low expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1028"">1028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09993"">K09993</a>]
 MEN1 (LOH, mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]",,,,"ミトタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00420"">D00420</a>]",,"ICD-11: 2D11
 ICD-10: C74
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000306"">D000306</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17934868"">17934868</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Barlaskar FM, Hammer GD
 タイトル      The molecular genetics of adrenocortical carcinoma.
 雑誌        Rev Endocr Metab Disord 8:343-8 (2007)
 DOI:<a href=""https://doi.org/10.1007/s11154-007-9057-x"">10.1007/s11154-007-9057-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11281372"">11281372</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Reincke M, Beuschlein F, Slawik M, Borm K.
 タイトル      Molecular adrenocortical tumourigenesis.
 雑誌        Eur J Clin Invest 30 Suppl 3:63-8 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2362.2000.0300s3063.x"">10.1046/j.1365-2362.2000.0300s3063.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12920217"">12920217</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Stojadinovic A, Brennan MF, Hoos A, Omeroglu A, Leung DH, Dudas ME, Nissan A, Cordon-Cardo C, Ghossein RA.
 タイトル      Adrenocortical adenoma and carcinoma: histopathological and molecular comparative analysis.
 雑誌        Mod Pathol 16:742-51 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.MP.0000081730.72305.81"">10.1097/01.MP.0000081730.72305.81</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12466322"">12466322</a>
 著者        Koch CA, Pacak K, Chrousos GP.
 タイトル      The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors.
 雑誌        J Clin Endocrinol Metab 87:5367-84 (2002)
 DOI:<a href=""https://doi.org/10.1210/jc.2002-021069"">10.1210/jc.2002-021069</a>"
H00034,カルチノイド,,,"Carcinoid tumors are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial risk. Moreover, carcinoids can occur within the multiple endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display loss of heterozygosity for markers around the MEN 1 region, thus suggesting involvement of this gene in the pathogenesis of both familial and sporadic carcinoids.",がん,,"MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
 SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]",,,,オクトレオチド酢酸塩 [DR:D02250],,"ICD-11: 2B80
 ICD-10: C17
 MeSH: D002276","PMID:15887161 (gene, tumor type)
 著者        Modlin IM, Kidd M, Latich I, Zikusoka MN, Shapiro MD.
 タイトル      Current status of gastrointestinal carcinoids.
 雑誌        Gastroenterology 128:1717-51 (2005)
 DOI:10.1053/j.gastro.2005.03.038
 PMID:14713256
 著者        Leotlela PD, Jauch A, Holtgreve-Grez H, Thakker RV.
 タイトル      Genetics of neuroendocrine and carcinoid tumours.
 雑誌        Endocr Relat Cancer 10:437-50 (2003)
 DOI:10.1677/erc.0.0100437","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00034"">H00034</a>",カルチノイド,"Carcinoid tumors are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial risk. Moreover, carcinoids can occur within the multiple endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display loss of heterozygosity for markers around the MEN 1 region, thus suggesting involvement of this gene in the pathogenesis of both familial and sporadic carcinoids.",,"MEN1 (mutation, LOH) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 SDHD (germline mutation, LOH) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6392"">6392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00237"">K00237</a>]",,,,"オクトレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02250"">D02250</a>]",,"ICD-11: 2B80
 ICD-10: C17
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002276"">D002276</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15887161"">15887161</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Modlin IM, Kidd M, Latich I, Zikusoka MN, Shapiro MD.
 タイトル      Current status of gastrointestinal carcinoids.
 雑誌        Gastroenterology 128:1717-51 (2005)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2005.03.038"">10.1053/j.gastro.2005.03.038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14713256"">14713256</a>
 著者        Leotlela PD, Jauch A, Holtgreve-Grez H, Thakker RV.
 タイトル      Genetics of neuroendocrine and carcinoid tumours.
 雑誌        Endocr Relat Cancer 10:437-50 (2003)
 DOI:<a href=""https://doi.org/10.1677/erc.0.0100437"">10.1677/erc.0.0100437</a>"
H00035,"ユーイング肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million total population, and it usually occurs between the ages of 10 and 20 years. Ewing's sarcoma is in 85% of cases associated with the translocation t(11;22)(q24;q12), which leads to the formation of the EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;12)(22;12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene containing a portion of the EWSR1 gene and a member of the ETS family of transcription factors.",がん,,"EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
 EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
 EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
 EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
 EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]",,,,"イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 テモゾロミド [DR:D06067]
 アクチノマイシンD [DR:D00214]
 ドキソルビシン塩酸塩 [DR:D01275]
 エトポシド [DR:D00125]
 カルボプラチン [DR:D01363]",,"ICD-11: 2B52
 ICD-10: C41
 MeSH: D012512","PMID:12560386 (description, gene, tumor type)
 著者        Burchill SA.
 タイトル      Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities.
 雑誌        J Clin Pathol 56:96-102 (2003)
 DOI:10.1136/jcp.56.2.96
 PMID:11607824
 著者        Arvand A, Denny CT.
 タイトル      Biology of EWS/ETS fusions in Ewing's family tumors.
 雑誌        Oncogene 20:5747-54 (2001)
 DOI:10.1038/sj.onc.1204598
 PMID:17250957
 著者        Riggi N, Stamenkovic I.
 タイトル      The Biology of Ewing sarcoma.
 雑誌        Cancer Lett 254:1-10 (2007)
 DOI:10.1016/j.canlet.2006.12.009
 PMID:16096383 (marker)
 著者        Khoury JD.
 タイトル      Ewing sarcoma family of tumors.
 雑誌        Adv Anat Pathol 12:212-20 (2005)
 DOI:10.1097/01.pap.0000175114.55541.52
 PMID:12633526 (marker)
 著者        Riley RD, Burchill SA, Abrams KR, Heney D, Lambert PC, Jones DR, Sutton AJ, Young B, Wailoo AJ, Lewis IJ.
 タイトル      A systematic review and evaluation of the use of tumour markers in paediatric oncology: Ewing's sarcoma and neuroblastoma.
 雑誌        Health Technol Assess 7:1-162 (2003)
 DOI:10.3310/hta7050","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00035"">H00035</a>","ユーイング肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million total population, and it usually occurs between the ages of 10 and 20 years. Ewing's sarcoma is in 85% of cases associated with the translocation t(11;22)(q24;q12), which leads to the formation of the EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;12)(22;12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene containing a portion of the EWSR1 gene and a member of the ETS family of transcription factors.",,"EWSR1-FLI1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2313"">2313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09436"">K09436</a>]
 EWSR1-ERG (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2078"">2078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09435"">K09435</a>]
 EWSR1-ETV1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2115"">2115</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09431"">K09431</a>]
 EWSR1-ETV4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2118"">2118</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15592"">K15592</a>]
 EWSR1-FEV (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54738"">54738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09437"">K09437</a>]",,,,"イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 テモゾロミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06067"">D06067</a>]
 アクチノマイシンD [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00214"">D00214</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]",,"ICD-11: 2B52
 ICD-10: C41
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012512"">D012512</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12560386"">12560386</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Burchill SA.
 タイトル      Ewing's sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities.
 雑誌        J Clin Pathol 56:96-102 (2003)
 DOI:<a href=""https://doi.org/10.1136/jcp.56.2.96"">10.1136/jcp.56.2.96</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11607824"">11607824</a>
 著者        Arvand A, Denny CT.
 タイトル      Biology of EWS/ETS fusions in Ewing's family tumors.
 雑誌        Oncogene 20:5747-54 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1204598"">10.1038/sj.onc.1204598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17250957"">17250957</a>
 著者        Riggi N, Stamenkovic I.
 タイトル      The Biology of Ewing sarcoma.
 雑誌        Cancer Lett 254:1-10 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2006.12.009"">10.1016/j.canlet.2006.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16096383"">16096383</a> (marker)
 著者        Khoury JD.
 タイトル      Ewing sarcoma family of tumors.
 雑誌        Adv Anat Pathol 12:212-20 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.pap.0000175114.55541.52"">10.1097/01.pap.0000175114.55541.52</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12633526"">12633526</a> (marker)
 著者        Riley RD, Burchill SA, Abrams KR, Heney D, Lambert PC, Jones DR, Sutton AJ, Young B, Wailoo AJ, Lewis IJ.
 タイトル      A systematic review and evaluation of the use of tumour markers in paediatric oncology: Ewing's sarcoma and neuroblastoma.
 雑誌        Health Technol Assess 7:1-162 (2003)
 DOI:<a href=""https://doi.org/10.3310/hta7050"">10.3310/hta7050</a>"
H00036,"骨肉腫
 上位グループ    固形腫瘍 [DS:H02421]",,,"Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with peaks in adolescence and after the age of 50 years. The tumors typically arise in the metaphyseal regions of long bones, with the distal femur, proximal tibia, and proximal humerus representing the three most common sites. Genomic amplification, especially of both the p53-binding MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A, and CDKN2B.",がん,,"MDM2 (amplification) [HSA:4193] [KO:K06643]
 TSPAN31 (amplification) [HSA:6302] [KO:K17356]
 MYC (amplification) [HSA:4609] [KO:K04377]
 TP53 [HSA:7157] [KO:K04451]
 RB1 [HSA:5925] [KO:K06618]
 CDKN2A [HSA:1029] [KO:K06621]
 CDKN2B [HSA:1030] [KO:K04685]
 CHEK2 [HSA:11200] [KO:K06641]",,,"Radium-224 and its decay products [CPD:C16455]
 Radium-226 and its decay products [CPD:C16456]
 Radium-228 and its decay products [CPD:C16457]","メトトレキサート [DR:D00142]
 イホスファミド [DR:D00343]
 ドキソルビシン塩酸塩 [DR:D01275]
 シスプラチン [DR:D00275]",,"ICD-11: 2B51
 ICD-10: C41
 MeSH: D012516
 OMIM: 259500","PMID:11378650
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:11950895
 著者        Ragland BD, Bell WC, Lopez RR, Siegal GP
 タイトル      Cytogenetics and molecular biology of osteosarcoma.
 雑誌        Lab Invest 82:365-73 (2002)
 DOI:10.1038/labinvest.3780431
 PMID:17263592
 著者        Kansara M, Thomas DM.
 タイトル      Molecular pathogenesis of osteosarcoma.
 雑誌        DNA Cell Biol 26:1-18 (2007)
 DOI:10.1089/dna.2006.0505
 PMID:17241811
 著者        Papachristou DJ, Papavassiliou AG.
 タイトル      Osteosarcoma and chondrosarcoma: new signaling pathways as targets for novel therapeutic interventions.
 雑誌        Int J Biochem Cell Biol 39:857-62 (2007)
 DOI:10.1016/j.biocel.2006.12.003
 PMID:8893761 (TSPAN31)
 著者        Noble-Topham SE, Burrow SR, Eppert K, Kandel RA, Meltzer PS, Bell RS, Andrulis IL
 タイトル      SAS is amplified predominantly in surface osteosarcoma.
 雑誌        J Orthop Res 14:700-5 (1996)
 DOI:10.1002/jor.1100140504
 PMID:11746983 (CHEK2)
 著者        Miller CW, Ikezoe T, Krug U, Hofmann WK, Tavor S, Vegesna V, Tsukasaki K, Takeuchi S, Koeffler HP
 タイトル      Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors.
 雑誌        Genes Chromosomes Cancer 33:17-21 (2002)
 DOI:10.1002/gcc.1207","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00036"">H00036</a>","骨肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with peaks in adolescence and after the age of 50 years. The tumors typically arise in the metaphyseal regions of long bones, with the distal femur, proximal tibia, and proximal humerus representing the three most common sites. Genomic amplification, especially of both the p53-binding MDM2 gene and the flanking SAS gene, plays an important role in the biology of these tumors. Alterations of Rb1 and c-myc are also common, and mutations have been reported in p53, p16INK4A, and CDKN2B.",,"MDM2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 TSPAN31 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6302"">6302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17356"">K17356</a>]
 MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 RB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 CDKN2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 CHEK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11200"">11200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06641"">K06641</a>]",,,"Radium-224 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16455"">C16455</a>]
 Radium-226 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16456"">C16456</a>]
 Radium-228 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16457"">C16457</a>]","メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]",,"ICD-11: 2B51
 ICD-10: C41
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012516"">D012516</a>
 OMIM: <a href=""https://www.omim.org/entry/259500"">259500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11950895"">11950895</a>
 著者        Ragland BD, Bell WC, Lopez RR, Siegal GP
 タイトル      Cytogenetics and molecular biology of osteosarcoma.
 雑誌        Lab Invest 82:365-73 (2002)
 DOI:<a href=""https://doi.org/10.1038/labinvest.3780431"">10.1038/labinvest.3780431</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17263592"">17263592</a>
 著者        Kansara M, Thomas DM.
 タイトル      Molecular pathogenesis of osteosarcoma.
 雑誌        DNA Cell Biol 26:1-18 (2007)
 DOI:<a href=""https://doi.org/10.1089/dna.2006.0505"">10.1089/dna.2006.0505</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17241811"">17241811</a>
 著者        Papachristou DJ, Papavassiliou AG.
 タイトル      Osteosarcoma and chondrosarcoma: new signaling pathways as targets for novel therapeutic interventions.
 雑誌        Int J Biochem Cell Biol 39:857-62 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2006.12.003"">10.1016/j.biocel.2006.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8893761"">8893761</a> (TSPAN31)
 著者        Noble-Topham SE, Burrow SR, Eppert K, Kandel RA, Meltzer PS, Bell RS, Andrulis IL
 タイトル      SAS is amplified predominantly in surface osteosarcoma.
 雑誌        J Orthop Res 14:700-5 (1996)
 DOI:<a href=""https://doi.org/10.1002/jor.1100140504"">10.1002/jor.1100140504</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11746983"">11746983</a> (CHEK2)
 著者        Miller CW, Ikezoe T, Krug U, Hofmann WK, Tavor S, Vegesna V, Tsukasaki K, Takeuchi S, Koeffler HP
 タイトル      Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors.
 雑誌        Genes Chromosomes Cancer 33:17-21 (2002)
 DOI:<a href=""https://doi.org/10.1002/gcc.1207"">10.1002/gcc.1207</a>"
H00037,"横紋筋肉腫
 下位グループ    胞巣状横紋筋肉腫
 胎児型横紋筋肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS comprises a heterogeneous into two major histologic subtypes, embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways.",がん,,"PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
 PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
 MDM2 (amplification) [HSA:4193] [KO:K06643]
 SLC22A18 [HSA:5002] [KO:K08214]
 DICER1 [HSA:23405] [KO:K11592]",,,,"シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 アクチノマイシンD [DR:D00214]
 ドキソルビシン塩酸塩 [DR:D01275]
 ビンクリスチン硫酸塩 [DR:D02197]
 エトポシド [DR:D00125]
 シスプラチン [DR:D00275]",,"ICD-11: 2B55
 ICD-10: C49
 MeSH: D018232
 OMIM: 268210 180295","PMID:19008039
 著者        Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M
 タイトル      Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell?
 雑誌        Cancer Lett 279:126-36 (2009)
 DOI:10.1016/j.canlet.2008.09.039
 PMID:12170781
 著者        Xia SJ, Pressey JG, Barr FG
 タイトル      Molecular pathogenesis of rhabdomyosarcoma.
 雑誌        Cancer Biol Ther 1:97-104 (2002)
 DOI:10.4161/cbt.51
 PMID:11378650
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:10516379
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:10.1053/SRAO00900315
 PMID:16365729 (PAX3-FOXO1 PAX7-FOXO1)
 著者        Krskova L, Mrhalova M, Sumerauer D, Kodet R.
 タイトル      Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement.
 雑誌        Virchows Arch 448:449-58 (2006)
 DOI:10.1007/s00428-005-0124-y
 PMID:23766666 (MDM2)
 著者        Kikuchi K, Wettach GR, Ryan CW, Hung A, Hooper JE, Beadling C, Warrick A, Corless CL, Olson SB, Keller C, Mansoor A
 タイトル      MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma.
 雑誌        Sarcoma 2013:520858 (2013)
 DOI:10.1155/2013/520858
 PMID:15239143 (SLC22A18)
 著者        Albrecht S, Hartmann W, Houshdaran F, Koch A, Gartner B, Prawitt D, Zabel BU, Russo P, Von Schweinitz D, Pietsch T
 タイトル      Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma.
 雑誌        Int J Cancer 111:627-32 (2004)
 DOI:10.1002/ijc.20280
 PMID:21882293 (DICER1)
 著者        Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR
 タイトル      Extending the phenotypes associated with DICER1 mutations.
 雑誌        Hum Mutat 32:1381-4 (2011)
 DOI:10.1002/humu.21600","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00037"">H00037</a>","横紋筋肉腫
 下位グループ    胞巣状横紋筋肉腫
 胎児型横紋筋肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS comprises a heterogeneous into two major histologic subtypes, embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways.",,"PAX3-FOXO1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5077"">5077</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2308"">2308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09381"">K09381</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07201"">K07201</a>]
 PAX7-FOXO1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5081"">5081</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2308"">2308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09381"">K09381</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07201"">K07201</a>]
 MDM2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 SLC22A18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5002"">5002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08214"">K08214</a>]
 DICER1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23405"">23405</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11592"">K11592</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 アクチノマイシンD [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00214"">D00214</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]",,"ICD-11: 2B55
 ICD-10: C49
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018232"">D018232</a>
 OMIM: <a href=""https://www.omim.org/entry/268210"">268210</a> <a href=""https://www.omim.org/entry/180295"">180295</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19008039"">19008039</a>
 著者        Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M
 タイトル      Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell?
 雑誌        Cancer Lett 279:126-36 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2008.09.039"">10.1016/j.canlet.2008.09.039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12170781"">12170781</a>
 著者        Xia SJ, Pressey JG, Barr FG
 タイトル      Molecular pathogenesis of rhabdomyosarcoma.
 雑誌        Cancer Biol Ther 1:97-104 (2002)
 DOI:<a href=""https://doi.org/10.4161/cbt.51"">10.4161/cbt.51</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10516379"">10516379</a>
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:<a href=""https://doi.org/10.1053/SRAO00900315"">10.1053/SRAO00900315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16365729"">16365729</a> (PAX3-FOXO1 <a href=""https://pubmed.ncbi.nlm.nih.gov/PAX7-FOXO1)"">PAX7-FOXO1)</a>
 著者        Krskova L, Mrhalova M, Sumerauer D, Kodet R.
 タイトル      Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement.
 雑誌        Virchows Arch 448:449-58 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00428-005-0124-y"">10.1007/s00428-005-0124-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23766666"">23766666</a> (MDM2)
 著者        Kikuchi K, Wettach GR, Ryan CW, Hung A, Hooper JE, Beadling C, Warrick A, Corless CL, Olson SB, Keller C, Mansoor A
 タイトル      MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma.
 雑誌        Sarcoma 2013:520858 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/520858"">10.1155/2013/520858</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15239143"">15239143</a> (SLC22A18)
 著者        Albrecht S, Hartmann W, Houshdaran F, Koch A, Gartner B, Prawitt D, Zabel BU, Russo P, Von Schweinitz D, Pietsch T
 タイトル      Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma.
 雑誌        Int J Cancer 111:627-32 (2004)
 DOI:<a href=""https://doi.org/10.1002/ijc.20280"">10.1002/ijc.20280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21882293"">21882293</a> (DICER1)
 著者        Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR
 タイトル      Extending the phenotypes associated with DICER1 mutations.
 雑誌        Hum Mutat 32:1381-4 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21600"">10.1002/humu.21600</a>"
H00038,"悪性黒色腫
 下位グループ    皮膚悪性黒色腫 (CMM)
 上位グループ    固形腫瘍 [DS:H02421]",,,"Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and in people with fair skin the risk is greatly increased. Melanoma pathogenesis is also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-ERK and PI3K-Akt. The Raf-MEK-ERK pathway may also be activated via mutations in the BRAF gene. The PI3K-Akt pathway may be activated through loss or mutation of the inhibitory tumor suppressor gene PTEN. These mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Melanoma development has been shown to be strongly associated with inactivation of the p16INK4a/cyclin dependent kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression.",がん,nt06268  Melanoma,"(CMM2) CDKN2A [HSA:1029] [KO:K06621]
 (CMM3) CDK4 [HSA:1019] [KO:K02089]
 (CMM5) MC1R [HSA:4157] [KO:K04199]
 (CMM6) XRCC3 [HSA:7517] [KO:K10880]
 (CMM8) MITF (amplification) [HSA:4286] [KO:K09455]
 (CMM9) TERT [HSA:7015] [KO:K11126]
 (CMM10) POT1 [HSA:25913] [KO:K11109]
 BRAF [HSA:673] [KO:K04365]
 STK11 [HSA:6794] [KO:K07298]
 NRAS [HSA:4893] [KO:K07828]
 PTEN [HSA:5728] [KO:K01110]
 TP53 [HSA:7157] [KO:K04451]",,,"8-Methoxypsoralen (Methoxsalen) plus ultraviolet A radiation [CPD:C01864]
 Solar radiation
 *Benzo[a]pyrene [CPD:C07535]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:D00287]
 ダカルバジン [DR:D00288]
 ベムラフェニブ [DR:D09996] (BRAF遺伝子変異陽性)
 ダブラフェニブメシル酸塩 [DR:D10104] (BRAF遺伝子変異陽性)
 エンコラフェニブ [DR:D11053] (BRAF遺伝子変異陽性)
 トラメチニブジメチルスルホキシド付加物 [DR:D10176] (BRAF遺伝子変異陽性)
 ビニメチニブ [DR:D10604] (BRAF遺伝子変異陽性)
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 イピリムマブ [DR:D04603]
 インターフェロンベータ [DR:D03304]
 ペグインターフェロンアルファ-2b [DR:D02748]",,"ICD-11: 2C30
 ICD-10: C43
 MeSH: D008545
 OMIM: 613099 613972 615134 155600 155601 609048 614456 615848","PMID:16822996
 著者        Miller AJ, Mihm MC Jr.
 タイトル      Melanoma.
 雑誌        N Engl J Med 355:51-65 (2006)
 DOI:10.1056/NEJMra052166
 PMID:15468170
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:10.1002/ajmg.c.30037
 PMID:17492760 (CDKN2A)
 著者        Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B
 タイトル      New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
 雑誌        Genes Chromosomes Cancer 46:751-60 (2007)
 DOI:10.1002/gcc.20461
 PMID:15880589 (CDK4)
 著者        Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA
 タイトル      A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
 雑誌        Genes Chromosomes Cancer 44:10-8 (2005)
 DOI:10.1002/gcc.20202
 PMID:16809487 (MC1R)
 著者        Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC
 タイトル      MC1R germline variants confer risk for BRAF-mutant melanoma.
 雑誌        Science 313:521-2 (2006)
 DOI:10.1126/science.1127515
 PMID:11059748 (XRCC3)
 著者        Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI
 タイトル      A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
 雑誌        Cancer Res 60:5612-6 (2000)
 PMID:22012259 (MITF)
 著者        Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardiere A, Molinie V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugieres L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanche H, Zelenika D, Galan P, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fetita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Mateus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B
 タイトル      A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
 雑誌        Nature 480:94-8 (2011)
 DOI:10.1038/nature10539
 PMID:23348506 (TERT)
 著者        Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA
 タイトル      Highly recurrent TERT promoter mutations in human melanoma.
 雑誌        Science 339:957-9 (2013)
 DOI:10.1126/science.1229259
 PMID:24686849 (POT1)
 著者        Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, Lopez-Otin C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ
 タイトル      POT1 loss-of-function variants predispose to familial melanoma.
 雑誌        Nat Genet 46:478-481 (2014)
 DOI:10.1038/ng.2947
 PMID:15785879 (BRAF)
 著者        Gray-Schopfer VC, da Rocha Dias S, Marais R.
 タイトル      The role of B-RAF in melanoma.
 雑誌        Cancer Metastasis Rev 24:165-83 (2005)
 DOI:10.1007/s10555-005-5865-1
 PMID:10208439 (STK11)
 著者        Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J
 タイトル      Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.
 雑誌        Oncogene 18:1777-80 (1999)
 DOI:10.1038/sj.onc.1202486
 PMID:19037234 (NRAS BRAF)
 著者        Greene VR, Johnson MM, Grimm EA, Ellerhorst JA
 タイトル      Frequencies of NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma.
 雑誌        J Invest Dermatol 129:1483-8 (2009)
 DOI:10.1038/jid.2008.374
 PMID:10651986 (PTEN)
 著者        Birck A, Ahrenkiel V, Zeuthen J, Hou-Jensen K, Guldberg P
 タイトル      Mutation and allelic loss of the PTEN/MMAC1 gene in primary and metastatic melanoma biopsies.
 雑誌        J Invest Dermatol 114:277-80 (2000)
 DOI:10.1046/j.1523-1747.2000.00877.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00038"">H00038</a>","悪性黒色腫
 下位グループ    皮膚悪性黒色腫 (CMM)
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The only known environmental risk factor is exposure to ultraviolet (UV) light and in people with fair skin the risk is greatly increased. Melanoma pathogenesis is also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-ERK and PI3K-Akt. The Raf-MEK-ERK pathway may also be activated via mutations in the BRAF gene. The PI3K-Akt pathway may be activated through loss or mutation of the inhibitory tumor suppressor gene PTEN. These mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Melanoma development has been shown to be strongly associated with inactivation of the p16INK4a/cyclin dependent kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression.","<a href=""https://www.kegg.jp/network/nt06268"">nt06268</a>  Melanoma","(CMM2) CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 (CMM3) CDK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1019"">1019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02089"">K02089</a>]
 (CMM5) MC1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4157"">4157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04199"">K04199</a>]
 (CMM6) XRCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7517"">7517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10880"">K10880</a>]
 (CMM8) MITF (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4286"">4286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09455"">K09455</a>]
 (CMM9) TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 (CMM10) POT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25913"">25913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11109"">K11109</a>]
 BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 STK11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6794"">6794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07298"">K07298</a>]
 NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,"8-Methoxypsoralen (Methoxsalen) plus ultraviolet A radiation [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01864"">C01864</a>]
 Solar radiation
 *Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ダカルバジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00288"">D00288</a>]
 ベムラフェニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09996"">D09996</a>] (BRAF遺伝子変異陽性)
 ダブラフェニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10104"">D10104</a>] (BRAF遺伝子変異陽性)
 エンコラフェニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11053"">D11053</a>] (BRAF遺伝子変異陽性)
 トラメチニブジメチルスルホキシド付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10176"">D10176</a>] (BRAF遺伝子変異陽性)
 ビニメチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10604"">D10604</a>] (BRAF遺伝子変異陽性)
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 イピリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04603"">D04603</a>]
 インターフェロンベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03304"">D03304</a>]
 ペグインターフェロンアルファ-2b [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02748"">D02748</a>]",,"ICD-11: 2C30
 ICD-10: C43
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008545"">D008545</a>
 OMIM: <a href=""https://www.omim.org/entry/613099"">613099</a> <a href=""https://www.omim.org/entry/613972"">613972</a> <a href=""https://www.omim.org/entry/615134"">615134</a> <a href=""https://www.omim.org/entry/155600"">155600</a> <a href=""https://www.omim.org/entry/155601"">155601</a> <a href=""https://www.omim.org/entry/609048"">609048</a> <a href=""https://www.omim.org/entry/614456"">614456</a> <a href=""https://www.omim.org/entry/615848"">615848</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16822996"">16822996</a>
 著者        Miller AJ, Mihm MC Jr.
 タイトル      Melanoma.
 雑誌        N Engl J Med 355:51-65 (2006)
 DOI:<a href=""https://doi.org/10.1056/NEJMra052166"">10.1056/NEJMra052166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15468170"">15468170</a>
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30037"">10.1002/ajmg.c.30037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17492760"">17492760</a> (CDKN2A)
 著者        Kannengiesser C, Dalle S, Leccia MT, Avril MF, Bonadona V, Chompret A, Lasset C, Leroux D, Thomas L, Lesueur F, Lenoir G, Sarasin A, Bressac-de Paillerets B
 タイトル      New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
 雑誌        Genes Chromosomes Cancer 46:751-60 (2007)
 DOI:<a href=""https://doi.org/10.1002/gcc.20461"">10.1002/gcc.20461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15880589"">15880589</a> (CDK4)
 著者        Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA
 タイトル      A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
 雑誌        Genes Chromosomes Cancer 44:10-8 (2005)
 DOI:<a href=""https://doi.org/10.1002/gcc.20202"">10.1002/gcc.20202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16809487"">16809487</a> (MC1R)
 著者        Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC
 タイトル      MC1R germline variants confer risk for BRAF-mutant melanoma.
 雑誌        Science 313:521-2 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1127515"">10.1126/science.1127515</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11059748"">11059748</a> (XRCC3)
 著者        Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI
 タイトル      A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
 雑誌        Cancer Res 60:5612-6 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22012259"">22012259</a> (MITF)
 著者        Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardiere A, Molinie V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugieres L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanche H, Zelenika D, Galan P, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fetita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Mateus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B
 タイトル      A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
 雑誌        Nature 480:94-8 (2011)
 DOI:<a href=""https://doi.org/10.1038/nature10539"">10.1038/nature10539</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23348506"">23348506</a> (TERT)
 著者        Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA
 タイトル      Highly recurrent TERT promoter mutations in human melanoma.
 雑誌        Science 339:957-9 (2013)
 DOI:<a href=""https://doi.org/10.1126/science.1229259"">10.1126/science.1229259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24686849"">24686849</a> (POT1)
 著者        Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, Lopez-Otin C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ
 タイトル      POT1 loss-of-function variants predispose to familial melanoma.
 雑誌        Nat Genet 46:478-481 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2947"">10.1038/ng.2947</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15785879"">15785879</a> (BRAF)
 著者        Gray-Schopfer VC, da Rocha Dias S, Marais R.
 タイトル      The role of B-RAF in melanoma.
 雑誌        Cancer Metastasis Rev 24:165-83 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10555-005-5865-1"">10.1007/s10555-005-5865-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10208439"">10208439</a> (STK11)
 著者        Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J
 タイトル      Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.
 雑誌        Oncogene 18:1777-80 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1202486"">10.1038/sj.onc.1202486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19037234"">19037234</a> (NRAS <a href=""https://pubmed.ncbi.nlm.nih.gov/BRAF)"">BRAF)</a>
 著者        Greene VR, Johnson MM, Grimm EA, Ellerhorst JA
 タイトル      Frequencies of NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma.
 雑誌        J Invest Dermatol 129:1483-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/jid.2008.374"">10.1038/jid.2008.374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10651986"">10651986</a> (PTEN)
 著者        Birck A, Ahrenkiel V, Zeuthen J, Hou-Jensen K, Guldberg P
 タイトル      Mutation and allelic loss of the PTEN/MMAC1 gene in primary and metastatic melanoma biopsies.
 雑誌        J Invest Dermatol 114:277-80 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2000.00877.x"">10.1046/j.1523-1747.2000.00877.x</a>"
H00039,基底細胞癌,,,"Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.",がん,nt06269  Basal cell carcinoma,"SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
 SMO (somatic mutation) [HSA:6608] [KO:K06226]
 p53 (mutation) [HSA:7157] [KO:K04451]
 PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]",,,"Arsenic in drinking-water
 Solar radiation
 *Benzo[a]pyrene [CPD:C07535]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.",フルオロウラシル [DR:D00584],,"ICD-11: 2C32
 ICD-10: C44
 MeSH: D002280","PMID:15978322 (gene, tumor type)
 著者        Daya-Grosjean L, Couve-Privat S.
 タイトル      Sonic hedgehog signaling in basal cell carcinomas.
 雑誌        Cancer Lett 225:181-92 (2005)
 DOI:10.1016/j.canlet.2004.10.003
 PMID:16541145
 著者        Khavari PA.
 タイトル      Modelling cancer in human skin tissue.
 雑誌        Nat Rev Cancer 6:270-80 (2006)
 DOI:10.1038/nrc1838
 PMID:15468170
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:10.1002/ajmg.c.30037
 PMID:14643412 (carcinogen)
 著者        Rossman TG.
 タイトル      Mechanism of arsenic carcinogenesis: an integrated approach.
 雑誌        Mutat Res 533:37-65 (2003)
 DOI:10.1016/j.mrfmmm.2003.07.009
 PMID:17244035 (carcinogen)
 著者        Walvekar RR, Kane SV, Nadkarni MS, Bagwan IN, Chaukar DA, D'Cruz AK.
 タイトル      Chronic arsenic poisoning: a global health issue -- a report of multiple primary cancers.
 雑誌        J Cutan Pathol 34:203-6 (2007)
 DOI:10.1111/j.1600-0560.2006.00596.x
 PMID:15701081 (carcinogen)
 著者        Hussein MR.
 タイトル      Ultraviolet radiation and skin cancer: molecular mechanisms.
 雑誌        J Cutan Pathol 32:191-205 (2005)
 DOI:10.1111/j.0303-6987.2005.00281.x
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:9498901 (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:10.1023/a:1018409422050
 PMID:16307669 (marker)
 著者        Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.
 タイトル      Immunohistochemical analyses of p63 expression in cutaneous tumours.
 雑誌        Br J Dermatol 153:1230-2 (2005)
 DOI:10.1111/j.1365-2133.2005.06952.x
 PMID:15268709 (marker)
 著者        Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.
 タイトル      Expression profiles of p63, p53, survivin, and hTERT in skin tumors.
 雑誌        J Cutan Pathol 31:544-9 (2004)
 DOI:10.1111/j.0303-6987.2004.00228.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00039"">H00039</a>",基底細胞癌,"Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.","<a href=""https://www.kegg.jp/network/nt06269"">nt06269</a>  Basal cell carcinoma","SHH (germline, somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6469"">6469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11988"">K11988</a>]
 SMO (somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6608"">6608</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06226"">K06226</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 PTCH (germline, somatic mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5727"">5727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06225"">K06225</a>]",,,"Arsenic in drinking-water
 Solar radiation
 *Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.","フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]",,"ICD-11: 2C32
 ICD-10: C44
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002280"">D002280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15978322"">15978322</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Daya-Grosjean L, Couve-Privat S.
 タイトル      Sonic hedgehog signaling in basal cell carcinomas.
 雑誌        Cancer Lett 225:181-92 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2004.10.003"">10.1016/j.canlet.2004.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16541145"">16541145</a>
 著者        Khavari PA.
 タイトル      Modelling cancer in human skin tissue.
 雑誌        Nat Rev Cancer 6:270-80 (2006)
 DOI:<a href=""https://doi.org/10.1038/nrc1838"">10.1038/nrc1838</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15468170"">15468170</a>
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30037"">10.1002/ajmg.c.30037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14643412"">14643412</a> (carcinogen)
 著者        Rossman TG.
 タイトル      Mechanism of arsenic carcinogenesis: an integrated approach.
 雑誌        Mutat Res 533:37-65 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.mrfmmm.2003.07.009"">10.1016/j.mrfmmm.2003.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17244035"">17244035</a> (carcinogen)
 著者        Walvekar RR, Kane SV, Nadkarni MS, Bagwan IN, Chaukar DA, D'Cruz AK.
 タイトル      Chronic arsenic poisoning: a global health issue -- a report of multiple primary cancers.
 雑誌        J Cutan Pathol 34:203-6 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0560.2006.00596.x"">10.1111/j.1600-0560.2006.00596.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15701081"">15701081</a> (carcinogen)
 著者        Hussein MR.
 タイトル      Ultraviolet radiation and skin cancer: molecular mechanisms.
 雑誌        J Cutan Pathol 32:191-205 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0303-6987.2005.00281.x"">10.1111/j.0303-6987.2005.00281.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498901"">9498901</a> (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018409422050"">1018409422050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16307669"">16307669</a> (marker)
 著者        Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.
 タイトル      Immunohistochemical analyses of p63 expression in cutaneous tumours.
 雑誌        Br J Dermatol 153:1230-2 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06952.x"">10.1111/j.1365-2133.2005.06952.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15268709"">15268709</a> (marker)
 著者        Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.
 タイトル      Expression profiles of p63, p53, survivin, and hTERT in skin tumors.
 雑誌        J Cutan Pathol 31:544-9 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0303-6987.2004.00228.x"">10.1111/j.0303-6987.2004.00228.x</a>"
H00040,"有棘細胞癌;
 扁平上皮癌",,,"Non-melanoma skin cancer, i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of SCC develop per year, causing about 2000 deaths. Unlike BCCs, which have no known precursor lesions, SCCs can emerge from actinic keratoses. As with BCC, risk for development of SCC is strongly influenced by the nature and dose of UV radiation and genetic backgrounds that regulate that interaction. Mutations in TP53 have been described in actinic keratoses, in situ SCC, and invasive SCC with UV signature lesions common, and a reported mutation rate as high as 45%. As with TP53, UV-induced mutations in HRAS and KRAS have also been characterized in both actinic keratoses and SCC. The reported frequency of RAS mutations in SCCs ranges from approximately 10% to almost 50%. Several recent studies have also reported mutations of p16 in up to 24% of SCCs. In addition to UV, a pathogenic role for human papillomavirus (HPV) in the development of SCC has also been proposed.",がん,,"p53 (mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (mutation) [HSA:1029] [KO:K06621]
 H-ras (mutation) [HSA:3265] [KO:K02833]
 K-ras (mutation) [HSA:3845] [KO:K07827]",,,"Solar radiation
 Ciclosporin [CPD:C05086]
 *Benzo[a]pyrene [CPD:C07535]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Human papillomavirus types 5, 8 [GN:T40089]","フルオロウラシル [DR:D00584]
 イリノテカン塩酸塩水和物 [DR:D01061]",,"ICD-11: 2C31
 ICD-10: C44
 MeSH: D002294","PMID:15468170 (description, gene, carcinogen, tumor type)
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:10.1002/ajmg.c.30037
 PMID:11708952
 著者        Tsao H.
 タイトル      Genetics of nonmelanoma skin cancer.
 雑誌        Arch Dermatol 137:1486-92 (2001)
 DOI:10.1001/archderm.137.11.1486
 PMID:25451638 (carcinogen)
 著者        Accardi R, Gheit T
 タイトル      Cutaneous HPV and skin cancer.
 雑誌        Presse Med 43:e435-43 (2014)
 DOI:10.1016/j.lpm.2014.08.008
 PMID:17627060 (carcinogen)
 著者        Nindl I, Gottschling M, Stockfleth E
 タイトル      Human papillomaviruses and non-melanoma skin cancer: basic virology and clinical manifestations.
 雑誌        Dis Markers 23:247-59 (2007)
 DOI:10.1155/2007/942650
 PMID:16652084 (carcinogen)
 著者        Tiu J, Li H, Rassekh C, van der Sloot P, Kovach R, Zhang P.
 タイトル      Molecular basis of posttransplant squamous cell carcinoma: the potential role of cyclosporine a in carcinogenesis.
 雑誌        Laryngoscope 116:762-9 (2006)
 DOI:10.1097/01.mlg.0000205170.24517.28
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:9498901 (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:10.1023/a:1018409422050
 PMID:16307669 (marker)
 著者        Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.
 タイトル      Immunohistochemical analyses of p63 expression in cutaneous tumours.
 雑誌        Br J Dermatol 153:1230-2 (2005)
 DOI:10.1111/j.1365-2133.2005.06952.x
 PMID:15268709 (marker)
 著者        Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.
 タイトル      Expression profiles of p63, p53, survivin, and hTERT in skin tumors.
 雑誌        J Cutan Pathol 31:544-9 (2004)
 DOI:10.1111/j.0303-6987.2004.00228.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00040"">H00040</a>","有棘細胞癌;
 扁平上皮癌","Non-melanoma skin cancer, i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of SCC develop per year, causing about 2000 deaths. Unlike BCCs, which have no known precursor lesions, SCCs can emerge from actinic keratoses. As with BCC, risk for development of SCC is strongly influenced by the nature and dose of UV radiation and genetic backgrounds that regulate that interaction. Mutations in TP53 have been described in actinic keratoses, in situ SCC, and invasive SCC with UV signature lesions common, and a reported mutation rate as high as 45%. As with TP53, UV-induced mutations in HRAS and KRAS have also been characterized in both actinic keratoses and SCC. The reported frequency of RAS mutations in SCCs ranges from approximately 10% to almost 50%. Several recent studies have also reported mutations of p16 in up to 24% of SCCs. In addition to UV, a pathogenic role for human papillomavirus (HPV) in the development of SCC has also been proposed.",,"p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 H-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 K-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]",,,"Solar radiation
 Ciclosporin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C05086"">C05086</a>]
 *Benzo[a]pyrene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07535"">C07535</a>]
 *Chimney sweeping
 *Mineral oils, untreated and mildly treated
 *: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Human papillomavirus types 5, 8 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40089"">T40089</a>]","フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]",,"ICD-11: 2C31
 ICD-10: C44
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002294"">D002294</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15468170"">15468170</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Tsai KY, Tsao H.
 タイトル      The genetics of skin cancer.
 雑誌        Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30037"">10.1002/ajmg.c.30037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11708952"">11708952</a>
 著者        Tsao H.
 タイトル      Genetics of nonmelanoma skin cancer.
 雑誌        Arch Dermatol 137:1486-92 (2001)
 DOI:<a href=""https://doi.org/10.1001/archderm.137.11.1486"">10.1001/archderm.137.11.1486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25451638"">25451638</a> (carcinogen)
 著者        Accardi R, Gheit T
 タイトル      Cutaneous HPV and skin cancer.
 雑誌        Presse Med 43:e435-43 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.lpm.2014.08.008"">10.1016/j.lpm.2014.08.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17627060"">17627060</a> (carcinogen)
 著者        Nindl I, Gottschling M, Stockfleth E
 タイトル      Human papillomaviruses and non-melanoma skin cancer: basic virology and clinical manifestations.
 雑誌        Dis Markers 23:247-59 (2007)
 DOI:<a href=""https://doi.org/10.1155/2007/942650"">10.1155/2007/942650</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16652084"">16652084</a> (carcinogen)
 著者        Tiu J, Li H, Rassekh C, van der Sloot P, Kovach R, Zhang P.
 タイトル      Molecular basis of posttransplant squamous cell carcinoma: the potential role of cyclosporine a in carcinogenesis.
 雑誌        Laryngoscope 116:762-9 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mlg.0000205170.24517.28"">10.1097/01.mlg.0000205170.24517.28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498901"">9498901</a> (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018409422050"">1018409422050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16307669"">16307669</a> (marker)
 著者        Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.
 タイトル      Immunohistochemical analyses of p63 expression in cutaneous tumours.
 雑誌        Br J Dermatol 153:1230-2 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06952.x"">10.1111/j.1365-2133.2005.06952.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15268709"">15268709</a> (marker)
 著者        Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.
 タイトル      Expression profiles of p63, p53, survivin, and hTERT in skin tumors.
 雑誌        J Cutan Pathol 31:544-9 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0303-6987.2004.00228.x"">10.1111/j.0303-6987.2004.00228.x</a>"
H00041,"カポジ肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, share the same histological traits and are all associated with infection by the human herpesvirus 8 (HHV8; also known as KSHV). Evidence indicates that KS progression occurs upon the deregulated expression of anti-apoptotic genes (Bcl-2), oncogenes (c-myc, c-int, ras) and oncosuppressor genes (TP53), and is associated with the long-lasting expression of HHV8 latency genes (LANA, v-cyc D, v-FLIP, Kaposin). All these genes are, in fact, expressed or altered in most KS spindle cells in the nodular-late stage of KS. Bcl-2 acts as a major KS progression factor, and TP53 and c-myc may also have a role in disease progression. HHV8 latency gene products may be involved in KS progression due to their capability of promoting cell growth by direct effects or antiapoptotic effects.",がん,"nt06110  MAPK signaling (viruses and bacteria)
 nt06114  PI3K signaling (viruses)
 nt06115  WNT signaling (viruses and bacteria)
 nt06119  JAK-STAT signaling (viruses)
 nt06120  Calcium signaling (viruses and bacteria)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06124  Chemokine signaling (viruses)
 nt06128  Autophagy (viruses and bacteria)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06136  Complement activation (viruses)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)","BCL2 (overexpression) [HSA:596] [KO:K02161]
 MYC (overexpression) [HSA:4609] [KO:K04377]
 FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358]
 KRAS (overexpression, mutation) [HSA:3845] [KO:K07827]
 TP53 [HSA:7157] [KO:K04451]",,,"Azathioprine [CPD:C06837]
 病原体         Human herpesvirus 8 (KSHV) [GN:T40081]
 Human immunodeficiency virus 1 [GN:T40001]",ドキソルビシン塩酸塩 [DR:D01275],,"ICD-11: 2B57
 ICD-10: C46
 MeSH: D012514","PMID:11423257 (GENE)
 著者        Ensoli B, Sgadari C, Barillari G, Sirianni MC, Sturzl M, Monini P
 タイトル      Biology of Kaposi's sarcoma.
 雑誌        Eur J Cancer 37:1251-69 (2001)
 DOI:10.1016/S0959-8049(01)00121-6
 PMID:15334644
 著者        Schwartz RA.
 タイトル      Kaposi's sarcoma: an update.
 雑誌        J Surg Oncol 87:146-51 (2004)
 DOI:10.1002/jso.20090","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00041"">H00041</a>","カポジ肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, share the same histological traits and are all associated with infection by the human herpesvirus 8 (HHV8; also known as KSHV). Evidence indicates that KS progression occurs upon the deregulated expression of anti-apoptotic genes (Bcl-2), oncogenes (c-myc, c-int, ras) and oncosuppressor genes (TP53), and is associated with the long-lasting expression of HHV8 latency genes (LANA, v-cyc D, v-FLIP, Kaposin). All these genes are, in fact, expressed or altered in most KS spindle cells in the nodular-late stage of KS. Bcl-2 acts as a major KS progression factor, and TP53 and c-myc may also have a role in disease progression. HHV8 latency gene products may be involved in KS progression due to their capability of promoting cell growth by direct effects or antiapoptotic effects.","<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06115"">nt06115</a>  WNT signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06119"">nt06119</a>  JAK-STAT signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06120"">nt06120</a>  Calcium signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06124"">nt06124</a>  Chemokine signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06128"">nt06128</a>  Autophagy (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06136"">nt06136</a>  Complement activation (viruses)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06164"">nt06164</a>  Kaposi sarcoma-associated herpesvirus (KSHV)","BCL2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 MYC (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 FGF3 (overexpression, mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2248"">2248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 KRAS (overexpression, mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,"Azathioprine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06837"">C06837</a>]
 病原体         Human herpesvirus 8 (KSHV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40081"">T40081</a>]
 Human immunodeficiency virus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40001"">T40001</a>]","ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]",,"ICD-11: 2B57
 ICD-10: C46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012514"">D012514</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11423257"">11423257</a> (GENE)
 著者        Ensoli B, Sgadari C, Barillari G, Sirianni MC, Sturzl M, Monini P
 タイトル      Biology of Kaposi's sarcoma.
 雑誌        Eur J Cancer 37:1251-69 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0959-8049(01)00121-6"">10.1016/S0959-8049(01)00121-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15334644"">15334644</a>
 著者        Schwartz RA.
 タイトル      Kaposi's sarcoma: an update.
 雑誌        J Surg Oncol 87:146-51 (2004)
 DOI:<a href=""https://doi.org/10.1002/jso.20090"">10.1002/jso.20090</a>"
H00042,"神経膠腫
 上位グループ    固形腫瘍 [DS:H02421]",,,"Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating astrocytoma - glioblastoma multiforme (GBM) - is one of the most aggressive human cancers. GBM may develop de novo (primary glioblastoma) or by progression from low-grade or anaplastic astrocytoma (secondary glioblastoma). Primary glioblastomas develop in older patients and typically show genetic alterations (EGFR amplification, p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glioblastomas develop in younger patients and frequently show overexpression of PDGF and CDK4 as well as p53 mutations (65%) and loss of Rb playing major roles in such transformations. Loss of PTEN has been implicated in both pathways, although it is much more common in the pathogenesis of primary GBM.",がん,nt06273  Glioma,"(GLM1) IDH1 [HSA:3417] [KO:K00031]
 (GLM1) TP53 [HSA:7157] [KO:K04451]
 (GLM1) ERBB2 [HSA:2064] [KO:K05083]
 (GLM2) PTEN [HSA:5728] [KO:K01110]
 (GLM3) BRCA2 [HSA:675] [KO:K08775]
 (GLM9) POT1 [HSA:25913] [KO:K11109]
 EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
 MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643]
 CDK4 (amplification) [HSA:1019] [KO:K02089]
 PDGFA (overexpression) [HSA:5154] [KO:K04359]
 PDGFB (overexpression) [HSA:5155] [KO:K17386]
 PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363]
 PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089]
 RB1 (loss) [HSA:5925] [KO:K06618]
 CDKN2A [HSA:1029] [KO:K06621]",,,X- and gamma-radiation,"カルムスチン [DR:D00254]
 テモゾロミド [DR:D06067]
 ブレオマイシン塩酸塩 [DR:D03229]
 ビンクリスチン硫酸塩 [DR:D02197]
 ベバシズマブ [DR:D06409]
 プロカルバジン塩酸塩 [DR:D00478]
 アミノレブリン酸塩酸塩 [DR:D02908]",,"ICD-11: 2A00.0
 ICD-10: C71
 MeSH: D005910
 OMIM: 137800 613028 613029 616568","PMID:15639402
 著者        Soni D, King JA, Kaye AH, Hovens CM.
 タイトル      Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge.
 雑誌        J Clin Neurosci 12:1-5 (2005)
 DOI:10.1016/j.jocn.2004.04.001
 PMID:11253051
 著者        Holland EC.
 タイトル      Gliomagenesis: genetic alterations and mouse models.
 雑誌        Nat Rev Genet 2:120-9 (2001)
 DOI:10.1038/35052535
 PMID:12154354
 著者        Zhu Y, Parada LF.
 タイトル      The molecular and genetic basis of neurological tumours.
 雑誌        Nat Rev Cancer 2:616-26 (2002)
 DOI:10.1038/nrc866
 PMID:26700815 (IDH1)
 著者        Flavahan WA, Drier Y, Liau BB, Gillespie SM, Venteicher AS, Stemmer-Rachamimov AO, Suva ML, Bernstein BE
 タイトル      Insulator dysfunction and oncogene activation in IDH mutant gliomas.
 雑誌        Nature 529:110-4 (2016)
 DOI:10.1038/nature16490
 PMID:18948956 (TP53)
 著者        Zheng H, Ying H, Yan H, Kimmelman AC, Hiller DJ, Chen AJ, Perry SR, Tonon G, Chu GC, Ding Z, Stommel JM, Dunn KL, Wiedemeyer R, You MJ, Brennan C, Wang YA, Ligon KL, Wong WH, Chin L, DePinho RA
 タイトル      p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation.
 雑誌        Nature 455:1129-33 (2008)
 DOI:10.1038/nature07443
 PMID:33640859 (ERBB2)
 著者        Mei J, Wang T, Xu R, Chen D, Zhang Y
 タイトル      Clinical and molecular immune characterization of ERBB2 in glioma.
 雑誌        Int Immunopharmacol 94:107499 (2021)
 DOI:10.1016/j.intimp.2021.107499
 PMID:12085208 (PTEN)
 著者        Staal FJ, van der Luijt RB, Baert MR, van Drunen J, van Bakel H, Peters E, de Valk I, van Amstel HK, Taphoorn MJ, Jansen GH, van Veelen CW, Burgering B, Staal GE
 タイトル      A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
 雑誌        Br J Cancer 86:1586-91 (2002)
 DOI:10.1038/sj.bjc.6600206
 PMID:15689453 (BRCA2)
 著者        Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
 タイトル      Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
 雑誌        J Med Genet 42:147-51 (2005)
 DOI:10.1136/jmg.2004.022673
 PMID:25482530 (POT1)
 著者        Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML
 タイトル      Germline mutations in shelterin complex genes are associated with familial glioma.
 雑誌        J Natl Cancer Inst 107:384 (2015)
 DOI:10.1093/jnci/dju384
 PMID:23777544 (EGFR)
 著者        Gan HK, Cvrljevic AN, Johns TG
 タイトル      The epidermal growth factor receptor variant III (EGFRvIII): where wild things are altered.
 雑誌        FEBS J 280:5350-70 (2013)
 DOI:10.1111/febs.12393","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00042"">H00042</a>","神経膠腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating astrocytoma - glioblastoma multiforme (GBM) - is one of the most aggressive human cancers. GBM may develop de novo (primary glioblastoma) or by progression from low-grade or anaplastic astrocytoma (secondary glioblastoma). Primary glioblastomas develop in older patients and typically show genetic alterations (EGFR amplification, p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glioblastomas develop in younger patients and frequently show overexpression of PDGF and CDK4 as well as p53 mutations (65%) and loss of Rb playing major roles in such transformations. Loss of PTEN has been implicated in both pathways, although it is much more common in the pathogenesis of primary GBM.","<a href=""https://www.kegg.jp/network/nt06273"">nt06273</a>  Glioma","(GLM1) IDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3417"">3417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 (GLM1) TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 (GLM1) ERBB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 (GLM2) PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 (GLM3) BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 (GLM9) POT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25913"">25913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11109"">K11109</a>]
 EGFR (amplification, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 MDM2 (amplification, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 CDK4 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1019"">1019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02089"">K02089</a>]
 PDGFA (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5154"">5154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04359"">K04359</a>]
 PDGFB (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5155"">5155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17386"">K17386</a>]
 PDGFRA (overexpression, amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5156"">5156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04363"">K04363</a>]
 PDGFRB (overexpression, amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5159"">5159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05089"">K05089</a>]
 RB1 (loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]",,,X- and gamma-radiation,"カルムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00254"">D00254</a>]
 テモゾロミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06067"">D06067</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 プロカルバジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00478"">D00478</a>]
 アミノレブリン酸塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02908"">D02908</a>]",,"ICD-11: 2A00.0
 ICD-10: C71
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005910"">D005910</a>
 OMIM: <a href=""https://www.omim.org/entry/137800"">137800</a> <a href=""https://www.omim.org/entry/613028"">613028</a> <a href=""https://www.omim.org/entry/613029"">613029</a> <a href=""https://www.omim.org/entry/616568"">616568</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15639402"">15639402</a>
 著者        Soni D, King JA, Kaye AH, Hovens CM.
 タイトル      Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge.
 雑誌        J Clin Neurosci 12:1-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.jocn.2004.04.001"">10.1016/j.jocn.2004.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11253051"">11253051</a>
 著者        Holland EC.
 タイトル      Gliomagenesis: genetic alterations and mouse models.
 雑誌        Nat Rev Genet 2:120-9 (2001)
 DOI:<a href=""https://doi.org/10.1038/35052535"">10.1038/35052535</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12154354"">12154354</a>
 著者        Zhu Y, Parada LF.
 タイトル      The molecular and genetic basis of neurological tumours.
 雑誌        Nat Rev Cancer 2:616-26 (2002)
 DOI:<a href=""https://doi.org/10.1038/nrc866"">10.1038/nrc866</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26700815"">26700815</a> (IDH1)
 著者        Flavahan WA, Drier Y, Liau BB, Gillespie SM, Venteicher AS, Stemmer-Rachamimov AO, Suva ML, Bernstein BE
 タイトル      Insulator dysfunction and oncogene activation in IDH mutant gliomas.
 雑誌        Nature 529:110-4 (2016)
 DOI:<a href=""https://doi.org/10.1038/nature16490"">10.1038/nature16490</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18948956"">18948956</a> (TP53)
 著者        Zheng H, Ying H, Yan H, Kimmelman AC, Hiller DJ, Chen AJ, Perry SR, Tonon G, Chu GC, Ding Z, Stommel JM, Dunn KL, Wiedemeyer R, You MJ, Brennan C, Wang YA, Ligon KL, Wong WH, Chin L, DePinho RA
 タイトル      p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation.
 雑誌        Nature 455:1129-33 (2008)
 DOI:<a href=""https://doi.org/10.1038/nature07443"">10.1038/nature07443</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33640859"">33640859</a> (ERBB2)
 著者        Mei J, Wang T, Xu R, Chen D, Zhang Y
 タイトル      Clinical and molecular immune characterization of ERBB2 in glioma.
 雑誌        Int Immunopharmacol 94:107499 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.intimp.2021.107499"">10.1016/j.intimp.2021.107499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12085208"">12085208</a> (PTEN)
 著者        Staal FJ, van der Luijt RB, Baert MR, van Drunen J, van Bakel H, Peters E, de Valk I, van Amstel HK, Taphoorn MJ, Jansen GH, van Veelen CW, Burgering B, Staal GE
 タイトル      A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
 雑誌        Br J Cancer 86:1586-91 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.bjc.6600206"">10.1038/sj.bjc.6600206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15689453"">15689453</a> (BRCA2)
 著者        Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
 タイトル      Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
 雑誌        J Med Genet 42:147-51 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.022673"">10.1136/jmg.2004.022673</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25482530"">25482530</a> (POT1)
 著者        Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML
 タイトル      Germline mutations in shelterin complex genes are associated with familial glioma.
 雑誌        J Natl Cancer Inst 107:384 (2015)
 DOI:<a href=""https://doi.org/10.1093/jnci/dju384"">10.1093/jnci/dju384</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23777544"">23777544</a> (EGFR)
 著者        Gan HK, Cvrljevic AN, Johns TG
 タイトル      The epidermal growth factor receptor variant III (EGFRvIII): where wild things are altered.
 雑誌        FEBS J 280:5350-70 (2013)
 DOI:<a href=""https://doi.org/10.1111/febs.12393"">10.1111/febs.12393</a>"
H00043,"神経芽腫;
 神経芽細胞腫",,,"Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, and have a poor long-term survival rate of approximately 30%.",がん,,"MYCN (normal/amplified) [HSA:4613] [KO:K09109]
 NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
 NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
 NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
 (NBLST1) KIF1B [HSA:23095] [KO:K10392]
 (NBLST2) PHOX2B [HSA:8929] [KO:K09330]
 (NBLST3) ALK [HSA:238] [KO:K05119]",,,,"フィルグラスチム [DR:D03235]
 シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 ドキソルビシン塩酸塩 [DR:D01275]
 ビンクリスチン硫酸塩 [DR:D02197]
 エトポシド [DR:D00125]
 ジヌツキシマブ [DR:D10559]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 テセロイキン [DR:D02749]",,"ICD-11: 2A02.1 2C20.3
 ICD-10: C38 C47 C48 C72 C74 C76
 MeSH: D009447
 OMIM: 256700 613013 613014","PMID:12612655 (MYCN, NTRK1/2/3)
 著者        Brodeur GM.
 タイトル      Neuroblastoma: biological insights into a clinical enigma.
 雑誌        Nat Rev Cancer 3:203-16 (2003)
 DOI:10.1038/nrc1014
 PMID:14697505
 著者        van Noesel MM, Versteeg R.
 タイトル      Pediatric neuroblastomas: genetic and epigenetic 'danse macabre'.
 雑誌        Gene 325:1-15 (2004)
 DOI:10.1016/j.gene.2003.09.042
 PMID:18334619 (KIF1B)
 著者        Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr
 タイトル      The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.
 雑誌        Genes Dev 22:884-93 (2008)
 DOI:10.1101/gad.1648608
 PMID:15024693 (PHOX2B)
 著者        Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J
 タイトル      Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
 雑誌        Am J Hum Genet 74:761-4 (2004)
 DOI:10.1086/383253
 PMID:18724359 (ALK)
 著者        Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM
 タイトル      Identification of ALK as a major familial neuroblastoma predisposition gene.
 雑誌        Nature 455:930-5 (2008)
 DOI:10.1038/nature07261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00043"">H00043</a>","神経芽腫;
 神経芽細胞腫","Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, and have a poor long-term survival rate of approximately 30%.",,"MYCN (normal/amplified) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4613"">4613</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09109"">K09109</a>]
 NTRK1 (high/low expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4914"">4914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03176"">K03176</a>]
 NTRK2 (low/high expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4915"">4915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04360"">K04360</a>]
 NTRK3 (high/low expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4916"">4916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05101"">K05101</a>]
 (NBLST1) KIF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23095"">23095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (NBLST2) PHOX2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8929"">8929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09330"">K09330</a>]
 (NBLST3) ALK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:238"">238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05119"">K05119</a>]",,,,"フィルグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03235"">D03235</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ジヌツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10559"">D10559</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 テセロイキン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02749"">D02749</a>]",,"ICD-11: 2A02.1 2C20.3
 ICD-10: C38 C47 C48 C72 C74 C76
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009447"">D009447</a>
 OMIM: <a href=""https://www.omim.org/entry/256700"">256700</a> <a href=""https://www.omim.org/entry/613013"">613013</a> <a href=""https://www.omim.org/entry/613014"">613014</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12612655"">12612655</a> (MYCN, <a href=""https://pubmed.ncbi.nlm.nih.gov/NTRK1/2/3)"">NTRK1/2/3)</a>
 著者        Brodeur GM.
 タイトル      Neuroblastoma: biological insights into a clinical enigma.
 雑誌        Nat Rev Cancer 3:203-16 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1014"">10.1038/nrc1014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14697505"">14697505</a>
 著者        van Noesel MM, Versteeg R.
 タイトル      Pediatric neuroblastomas: genetic and epigenetic 'danse macabre'.
 雑誌        Gene 325:1-15 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2003.09.042"">10.1016/j.gene.2003.09.042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18334619"">18334619</a> (KIF1B)
 著者        Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr
 タイトル      The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.
 雑誌        Genes Dev 22:884-93 (2008)
 DOI:<a href=""https://doi.org/10.1101/gad.1648608"">10.1101/gad.1648608</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15024693"">15024693</a> (PHOX2B)
 著者        Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J
 タイトル      Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
 雑誌        Am J Hum Genet 74:761-4 (2004)
 DOI:<a href=""https://doi.org/10.1086/383253"">10.1086/383253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18724359"">18724359</a> (ALK)
 著者        Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM
 タイトル      Identification of ALK as a major familial neuroblastoma predisposition gene.
 雑誌        Nature 455:930-5 (2008)
 DOI:<a href=""https://doi.org/10.1038/nature07261"">10.1038/nature07261</a>"
H00044,肛門管癌,,,"Squamous cell carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology studies have now shown that sexually transmitted infection with human papillomavirus (HPV) is the most important aetiological agent. Human immunodeficiency virus (HIV) infection is also associated with anal cancer. HPV infection is transient in most immunocompetent individuals, but HIV-positive patients have evidence of persistent HPV infection within the anal canal. Current data suggest that mutations in p53, DCC and APC tumor suppressor genes contribute to the stepwise progression of anal squamous cell carcinoma in immunocompetent individuals.",がん,,"p53 (mutation) [HSA:7157] [KO:K04451]
 DCC (mutation) [HSA:1630] [KO:K06765]
 APC (mutation) [HSA:324] [KO:K02085]",,,"Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:T40087]
 Human papillomavirus type 18 [GN:T40088]",組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:D10192],,"ICD-11: 2C00
 ICD-10: C21
 MeSH: D001005","PMID:16607677 (gene, carcinogen, tumor type)
 著者        Gervaz P, Hirschel B, Morel P.
 タイトル      Molecular biology of squamous cell carcinoma of the anus.
 雑誌        Br J Surg 93:531-8 (2006)
 DOI:10.1002/bjs.5376
 PMID:12947531 (gene, carcinogen)
 著者        Gervaz P, Allal AS, Villiger P, Buhler L, Morel P.
 タイトル      Squamous cell carcinoma of the anus: another sexually transmitted disease.
 雑誌        Swiss Med Wkly 133:353-9 (2003)
 PMID:11281434 (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:10.1177/120347540100500110
 PMID:1311142 (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:10.1093/oxfordjournals.aje.a116270
 PMID:17255774 (marker)
 著者        Owens SR, Greenson JK.
 タイトル      Immunohistochemical staining for p63 is useful in the diagnosis of anal squamous cell carcinomas.
 雑誌        Am J Surg Pathol 31:285-90 (2007)
 DOI:10.1097/01.pas.0000213362.10756.d3
 PMID:9372374 (marker)
 著者        Indinnimeo M, Reale MG, Cicchini C, Stazi A, Fiori E, Izzo P.
 タイトル      CEA, TPA, CA 19-9, SCC and CYFRA at diagnosis and in the follow-up of anal canal tumors.
 雑誌        Int Surg 82:275-9 (1997)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00044"">H00044</a>",肛門管癌,"Squamous cell carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology studies have now shown that sexually transmitted infection with human papillomavirus (HPV) is the most important aetiological agent. Human immunodeficiency virus (HIV) infection is also associated with anal cancer. HPV infection is transient in most immunocompetent individuals, but HIV-positive patients have evidence of persistent HPV infection within the anal canal. Current data suggest that mutations in p53, DCC and APC tumor suppressor genes contribute to the stepwise progression of anal squamous cell carcinoma in immunocompetent individuals.",,"p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 DCC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1630"">1630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06765"">K06765</a>]
 APC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]",,,"Tobacco smoking and tobacco smoke
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]
 Human papillomavirus type 18 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a>]","組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10192"">D10192</a>]",,"ICD-11: 2C00
 ICD-10: C21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001005"">D001005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16607677"">16607677</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Gervaz P, Hirschel B, Morel P.
 タイトル      Molecular biology of squamous cell carcinoma of the anus.
 雑誌        Br J Surg 93:531-8 (2006)
 DOI:<a href=""https://doi.org/10.1002/bjs.5376"">10.1002/bjs.5376</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12947531"">12947531</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Gervaz P, Allal AS, Villiger P, Buhler L, Morel P.
 タイトル      Squamous cell carcinoma of the anus: another sexually transmitted disease.
 雑誌        Swiss Med Wkly 133:353-9 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11281434"">11281434</a> (carcinogen)
 著者        Severson J, Evans TY, Lee P, Chan T, Arany I, Tyring SK.
 タイトル      Human papillomavirus infections: epidemiology, pathogenesis, and therapy.
 雑誌        J Cutan Med Surg 5:43-60 (2001)
 DOI:<a href=""https://doi.org/10.1177/120347540100500110"">10.1177/120347540100500110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1311142"">1311142</a> (carcinogen)
 著者        Daling JR, Sherman KJ, Hislop TG, Maden C, Mandelson MT, Beckmann AM, Weiss NS.
 タイトル      Cigarette smoking and the risk of anogenital cancer.
 雑誌        Am J Epidemiol 135:180-9 (1992)
 DOI:<a href=""https://doi.org/10.1093/oxfordjournals.aje.a116270"">10.1093/oxfordjournals.aje.a116270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17255774"">17255774</a> (marker)
 著者        Owens SR, Greenson JK.
 タイトル      Immunohistochemical staining for p63 is useful in the diagnosis of anal squamous cell carcinomas.
 雑誌        Am J Surg Pathol 31:285-90 (2007)
 DOI:<a href=""https://doi.org/10.1097/01.pas.0000213362.10756.d3"">10.1097/01.pas.0000213362.10756.d3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9372374"">9372374</a> (marker)
 著者        Indinnimeo M, Reale MG, Cicchini C, Stazi A, Fiori E, Izzo P.
 タイトル      CEA, TPA, CA 19-9, SCC and CYFRA at diagnosis and in the follow-up of anal canal tumors.
 雑誌        Int Surg 82:275-9 (1997)"
H00045,膵神経内分泌腫瘍,,,"Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic alterations in PNET occur in MEN1 (Multiple Endocrine Neoplasia-1 Gene), DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome. Mutations of DAXX and ATRX are common and related to altered telomeres but not to prognosis.",がん,,"MEN1 [HSA:4221] [KO:K14970]
 DAXX [HSA:1616] [KO:K02308]
 ATRX [HSA:546] [KO:K10779]",,,,"ランレオチド酢酸塩 [DR:D04666]
 エベロリムス [DR:D02714]
 ストレプトゾシン [DR:D05932]
 スニチニブリンゴ酸塩 [DR:D06402]",,"ICD-11: 2C10.1
 ICD-10: C25.4
 MeSH: D018273","PMID:27021395
 著者        Viudez A, De Jesus-Acosta A, Carvalho FL, Vera R, Martin-Algarra S, Ramirez N
 タイトル      Pancreatic neuroendocrine tumors: Challenges in an underestimated disease.
 雑誌        Crit Rev Oncol Hematol 101:193-206 (2016)
 DOI:10.1016/j.critrevonc.2016.03.013
 PMID:25341008
 著者        Halperin DM, Kulke MH, Yao JC
 タイトル      A tale of two tumors: treating pancreatic and extrapancreatic neuroendocrine tumors.
 雑誌        Annu Rev Med 66:1-16 (2015)
 DOI:10.1146/annurev-med-061813-012908
 PMID:25619712 (MEN1, DAXX_ATRX)
 著者        Capurso G, Archibugi L, Delle Fave G
 タイトル      Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors.
 雑誌        J Hepatobiliary Pancreat Sci 22:594-601 (2015)
 DOI:10.1002/jhbp.210","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00045"">H00045</a>",膵神経内分泌腫瘍,"Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic alterations in PNET occur in MEN1 (Multiple Endocrine Neoplasia-1 Gene), DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome. Mutations of DAXX and ATRX are common and related to altered telomeres but not to prognosis.",,"MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 DAXX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1616"">1616</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02308"">K02308</a>]
 ATRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:546"">546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10779"">K10779</a>]",,,,"ランレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04666"">D04666</a>]
 エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]
 ストレプトゾシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05932"">D05932</a>]
 スニチニブリンゴ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06402"">D06402</a>]",,"ICD-11: 2C10.1
 ICD-10: C25.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018273"">D018273</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27021395"">27021395</a>
 著者        Viudez A, De Jesus-Acosta A, Carvalho FL, Vera R, Martin-Algarra S, Ramirez N
 タイトル      Pancreatic neuroendocrine tumors: Challenges in an underestimated disease.
 雑誌        Crit Rev Oncol Hematol 101:193-206 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2016.03.013"">10.1016/j.critrevonc.2016.03.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25341008"">25341008</a>
 著者        Halperin DM, Kulke MH, Yao JC
 タイトル      A tale of two tumors: treating pancreatic and extrapancreatic neuroendocrine tumors.
 雑誌        Annu Rev Med 66:1-16 (2015)
 DOI:<a href=""https://doi.org/10.1146/annurev-med-061813-012908"">10.1146/annurev-med-061813-012908</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25619712"">25619712</a> (MEN1, <a href=""https://pubmed.ncbi.nlm.nih.gov/DAXX_ATRX)"">DAXX_ATRX)</a>
 著者        Capurso G, Archibugi L, Delle Fave G
 タイトル      Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors.
 雑誌        J Hepatobiliary Pancreat Sci 22:594-601 (2015)
 DOI:<a href=""https://doi.org/10.1002/jhbp.210"">10.1002/jhbp.210</a>"
H00046,"胆管癌
 上位グループ    固形腫瘍 [DS:H02421]",,,"Cholangiocarcinoma is a highly malignant neoplasm that carries a poor prognosis and lacks effective therapy. It is the second most common primary hepatic tumor, and it is increasing in incidence and carries a high mortality. The tumor arises from the ductular epithelium of the biliary tree, either within the liver (intrahepatic cholangiocarcinoma: ICC) or more commonly from the extrahepatic bile ducts (extrahepatic cholangiocarcinoma). Several studies have demonstrated mutations resulting in overexpression of K-ras and p53 genes. These genetic alterations are associated with a more aggressive phenotype in this cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and c-Met, as well as cyclo-oxygenase-2 (COX-2) activity in intrahepatic cholangiocarcinoma.",がん,,"K-ras (mutation) [HSA:3845] [KO:K07827]
 p53 (mutation) [HSA:7157] [KO:K04451]
 c-Met (overexpression) [HSA:4233] [KO:K05099]
 ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083]
 p16/INK4A (mutation) [HSA:1029] [KO:K06621]
 COX2 (overexpression) [HSA:5743] [KO:K11987]",,,"Opisthorchis viverrini (infection with)
 Radium-224 and its decay products [CPD:C16455]
 *Chimney sweeping
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:C07557]
 *Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *Tobacco smoking and tobacco smoke
 *: Although this is a risk factor for liver cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Opisthorchis viverrini [GN:ovi]","テガフール・ウラシル [DR:D02131]
 ドキソルビシン塩酸塩 [DR:D01275]
 ペミガチニブ [DR:D11417] (FGFR2融合遺伝子陽性)",,"ICD-11: 2C12.1
 ICD-10: C22
 MeSH: D018281","PMID:15218306 (gene, tumor type)
 著者        Olnes MJ, Erlich R.
 タイトル      A review and update on cholangiocarcinoma.
 雑誌        Oncology 66:167-79 (2004)
 DOI:10.1159/000077991
 PMID:17069969
 著者        Fava G, Marzioni M, Benedetti A, Glaser S, DeMorrow S, Francis H, Alpini G.
 タイトル      Molecular pathology of biliary tract cancers.
 雑誌        Cancer Lett 250:155-67 (2007)
 DOI:10.1016/j.canlet.2006.09.011
 PMID:15887157
 著者        Lazaridis KN, Gores GJ.
 タイトル      Cholangiocarcinoma.
 雑誌        Gastroenterology 128:1655-67 (2005)
 DOI:10.1053/j.gastro.2005.03.040
 PMID:15928434 (carcinogen)
 著者        Khurana S, Dubey ML, Malla N.
 タイトル      Association of parasitic infections and cancers.
 雑誌        Indian J Med Microbiol 23:74-9 (2005)
 DOI:10.4103/0255-0857.16044
 PMID:15744742 (carcinogen)
 著者        Herrera LA, Benitez-Bribiesca L, Mohar A, Ostrosky-Wegman P.
 タイトル      Role of infectious diseases in human carcinogenesis.
 雑誌        Environ Mol Mutagen 45:284-303 (2005)
 DOI:10.1002/em.20122
 PMID:10564925 (carcinogene)
 著者        Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
 タイトル      Malignancies in patients treated with high doses of radium-224.
 雑誌        Radiat Res 152:S3-7 (1999)
 DOI:10.2307/3580102
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:15660110 (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:10.1038/nrc1546
 PMID:12556326 (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:10.1080/0955300021000038671","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00046"">H00046</a>","胆管癌
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Cholangiocarcinoma is a highly malignant neoplasm that carries a poor prognosis and lacks effective therapy. It is the second most common primary hepatic tumor, and it is increasing in incidence and carries a high mortality. The tumor arises from the ductular epithelium of the biliary tree, either within the liver (intrahepatic cholangiocarcinoma: ICC) or more commonly from the extrahepatic bile ducts (extrahepatic cholangiocarcinoma). Several studies have demonstrated mutations resulting in overexpression of K-ras and p53 genes. These genetic alterations are associated with a more aggressive phenotype in this cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and c-Met, as well as cyclo-oxygenase-2 (COX-2) activity in intrahepatic cholangiocarcinoma.",,"K-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 c-Met (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 ERBB2 (overexpression, amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 p16/INK4A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 COX2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5743"">5743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11987"">K11987</a>]",,,"Opisthorchis viverrini (infection with)
 Radium-224 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16455"">C16455</a>]
 *Chimney sweeping
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07557"">C07557</a>]
 *Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *Tobacco smoking and tobacco smoke
 *: Although this is a risk factor for liver cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Opisthorchis viverrini [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ovi"">ovi</a>]","テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ペミガチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11417"">D11417</a>] (FGFR2融合遺伝子陽性)",,"ICD-11: 2C12.1
 ICD-10: C22
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018281"">D018281</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15218306"">15218306</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Olnes MJ, Erlich R.
 タイトル      A review and update on cholangiocarcinoma.
 雑誌        Oncology 66:167-79 (2004)
 DOI:<a href=""https://doi.org/10.1159/000077991"">10.1159/000077991</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17069969"">17069969</a>
 著者        Fava G, Marzioni M, Benedetti A, Glaser S, DeMorrow S, Francis H, Alpini G.
 タイトル      Molecular pathology of biliary tract cancers.
 雑誌        Cancer Lett 250:155-67 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.canlet.2006.09.011"">10.1016/j.canlet.2006.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15887157"">15887157</a>
 著者        Lazaridis KN, Gores GJ.
 タイトル      Cholangiocarcinoma.
 雑誌        Gastroenterology 128:1655-67 (2005)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2005.03.040"">10.1053/j.gastro.2005.03.040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15928434"">15928434</a> (carcinogen)
 著者        Khurana S, Dubey ML, Malla N.
 タイトル      Association of parasitic infections and cancers.
 雑誌        Indian J Med Microbiol 23:74-9 (2005)
 DOI:<a href=""https://doi.org/10.4103/0255-0857.16044"">10.4103/0255-0857.16044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15744742"">15744742</a> (carcinogen)
 著者        Herrera LA, Benitez-Bribiesca L, Mohar A, Ostrosky-Wegman P.
 タイトル      Role of infectious diseases in human carcinogenesis.
 雑誌        Environ Mol Mutagen 45:284-303 (2005)
 DOI:<a href=""https://doi.org/10.1002/em.20122"">10.1002/em.20122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10564925"">10564925</a> (carcinogene)
 著者        Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
 タイトル      Malignancies in patients treated with high doses of radium-224.
 雑誌        Radiat Res 152:S3-7 (1999)
 DOI:<a href=""https://doi.org/10.2307/3580102"">10.2307/3580102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660110"">15660110</a> (carcinogen)
 著者        Luch A.
 タイトル      Nature and nurture - lessons from chemical carcinogenesis.
 雑誌        Nat Rev Cancer 5:113-25 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1546"">10.1038/nrc1546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12556326"">12556326</a> (carcinogen)
 著者        Harrison JD, Muirhead CR.
 タイトル      Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
 雑誌        Int J Radiat Biol 79:1-13 (2003)
 DOI:<a href=""https://doi.org/10.1080/0955300021000038671"">10.1080/0955300021000038671</a>"
H00047,胆嚢癌,,,"Gallbladder cancer (GBC) is a relatively uncommon neoplasm, however its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology. Two main pathways of GBC pathogenesis have been identified. The most common is associated with gallstones and chronic inflammation of the gallbladder, whereas a second, less frequent pathway is associated with a congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and early role in GBC associated with gallstones and chronic inflammation. Although KRAS mutations are rarely detected in GBC associated with gallstones, they are frequent and early events in tumors associated with congenital abnormality of the pancreatic bile-duct junction.",がん,,"p53 (mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (mutation) [HSA:1029] [KO:K06621]
 K-ras (mutation) [HSA:3845] [KO:K07827]
 APC (mutation) [HSA:324] [KO:K02085]",,,,"テガフール・ウラシル [DR:D02131]
 ドキソルビシン塩酸塩 [DR:D01275]",,"ICD-11: 2C13
 ICD-10: C23
 MeSH: D005706","PMID:15343276 (description, gene, tumor type)
 著者        Wistuba II, Gazdar AF.
 タイトル      Gallbladder cancer: lessons from a rare tumour.
 雑誌        Nat Rev Cancer 4:695-706 (2004)
 DOI:10.1038/nrc1429
 著者        Hansel DE, Argani P.
 タイトル      Pathology of the gallbladder: a concise review.
 雑誌        Curr Diagn Pathol 10:304-317 (2004)
 DOI:10.1016/j.cdip.2004.03.006
 PMID:10526058
 著者        Wistuba II, Albores-Saavedra J.
 タイトル      Genetic abnormalities involved in the pathogenesis of gallbladder carcinoma.
 雑誌        J Hepatobiliary Pancreat Surg 6:237-44 (1999)
 DOI:10.1007/s005340050113
 PMID:11410326
 著者        Kim YT, Kim J, Jang YH, Lee WJ, Ryu JK, Park YK, Kim SW, Kim WH, Yoon YB, Kim CY.
 タイトル      Genetic alterations in gallbladder adenoma, dysplasia and carcinoma.
 雑誌        Cancer Lett 169:59-68 (2001)
 DOI:10.1016/S0304-3835(01)00562-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00047"">H00047</a>",胆嚢癌,"Gallbladder cancer (GBC) is a relatively uncommon neoplasm, however its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology. Two main pathways of GBC pathogenesis have been identified. The most common is associated with gallstones and chronic inflammation of the gallbladder, whereas a second, less frequent pathway is associated with a congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and early role in GBC associated with gallstones and chronic inflammation. Although KRAS mutations are rarely detected in GBC associated with gallstones, they are frequent and early events in tumors associated with congenital abnormality of the pancreatic bile-duct junction.",,"p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 K-ras (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 APC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]",,,,"テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]",,"ICD-11: 2C13
 ICD-10: C23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005706"">D005706</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15343276"">15343276</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Wistuba II, Gazdar AF.
 タイトル      Gallbladder cancer: lessons from a rare tumour.
 雑誌        Nat Rev Cancer 4:695-706 (2004)
 DOI:<a href=""https://doi.org/10.1038/nrc1429"">10.1038/nrc1429</a>
 著者        Hansel DE, Argani P.
 タイトル      Pathology of the gallbladder: a concise review.
 雑誌        Curr Diagn Pathol 10:304-317 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.cdip.2004.03.006"">10.1016/j.cdip.2004.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10526058"">10526058</a>
 著者        Wistuba II, Albores-Saavedra J.
 タイトル      Genetic abnormalities involved in the pathogenesis of gallbladder carcinoma.
 雑誌        J Hepatobiliary Pancreat Surg 6:237-44 (1999)
 DOI:<a href=""https://doi.org/10.1007/s005340050113"">10.1007/s005340050113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11410326"">11410326</a>
 著者        Kim YT, Kim J, Jang YH, Lee WJ, Ryu JK, Park YK, Kim SW, Kim WH, Yoon YB, Kim CY.
 タイトル      Genetic alterations in gallbladder adenoma, dysplasia and carcinoma.
 雑誌        Cancer Lett 169:59-68 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0304-3835(01)00562-6"">10.1016/S0304-3835(01)00562-6</a>"
H00048,"肝細胞癌;
 肝癌",,,"Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol or aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in new driver genes involved in the chromatin remodelling (ARID1A and ARID2) and the oxidative stress (NFE2L2) pathways.",がん,"nt06110  MAPK signaling (viruses and bacteria)
 nt06114  PI3K signaling (viruses)
 nt06118  TGFB signaling (viruses)
 nt06119  JAK-STAT signaling (viruses)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06124  Chemokine signaling (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06133  RLR signaling (viruses)
 nt06137  OAS/RNase L pathway (viruses)
 nt06140  Transcription (viruses)
 nt06162  Hepatitis B virus (HBV)
 nt06163  Hepatitis C virus (HCV)
 nt06263  Hepatocellular carcinoma","TGFA (overexpression) [HSA:7039] [KO:K08774]
 IGF2 (overexpression) [HSA:3481] [KO:K13769]
 IGF1R (overexpression) [HSA:3480] [KO:K05087]
 TERT (overexpression) [HSA:7015] [KO:K11126]
 FZD7 (overexpression) [HSA:8324] [KO:K02432]
 HGF (overexpression) [HSA:3082] [KO:K05460]
 MET (mutation, overexpression) [HSA:4233] [KO:K05099]
 MYC (amplification) [HSA:4609] [KO:K04377]
 RB1 (loss) [HSA:5925] [KO:K06618]
 CDKN2A (deletion) [HSA:1029] [KO:K06621]
 TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
 TP53 [HSA:7157] [KO:K04451]
 PTEN [HSA:5728] [KO:K01110]
 CTNNB1 [HSA:1499] [KO:K02105]
 AXIN1 [HSA:8312] [KO:K02157]
 KEAP1 [HSA:9817] [KO:K10456]
 NFE2L2 [HSA:4780] [KO:K05638]
 PIK3CA [HSA:5290] [KO:K00922]
 ARID1A [HSA:8289] [KO:K11653]
 ARID2 [HSA:196528] [KO:K11765]
 CASP8 [HSA:841] [KO:K04398]
 IGF2R [HSA:3482] [KO:K06564]",,,"Aflatoxins (naturally occurring mixtures of) [CPD:C06800]
 Alcoholic beverages
 Opisthorchis viverrini (infection with)
 Radium-224 and its decay products [CPD:C16455]
 *Chimney sweeping
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:C07557]
 *Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *Tobacco smoking and tobacco smoke
 *: Although this is a risk factor for liver cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Hepatitis B virus [GN:T40004]
 Hepatitis C virus [GN:T40066]","シクロホスファミド水和物 [DR:D00287]
 ニムスチン塩酸塩 [DR:D01059]
 フルオロウラシル [DR:D00584]
 シタラビン [DR:D00168]
 テガフール・ウラシル [DR:D02131]
 マイトマイシンC [DR:D00208]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 ミトキサントロン塩酸塩 [DR:D02166]
 ソラフェニブトシル酸塩 [DR:D06272]
 レゴラフェニブ水和物 [DR:D10137]
 カボザンチニブリンゴ酸塩 [DR:D10095]
 レンバチニブメシル酸塩 [DR:D09920]
 アテゾリズマブ [DR:D10773]
 ベバシズマブ [DR:D06409]
 ラムシルマブ [DR:D09371]
 シスプラチン [DR:D00275]
 ミリプラチン水和物 [DR:D06294]",,"ICD-11: 2C12.0
 ICD-10: C22
 MeSH: D006528
 OMIM: 114550","PMID:21829020
 著者        Kudo M
 タイトル      Signaling pathway and molecular-targeted therapy for hepatocellular carcinoma.
 雑誌        Dig Dis 29:289-302 (2011)
 DOI:10.1159/000327562
 PMID:27895396
 著者        Niu ZS, Niu XJ, Wang WH
 タイトル      Genetic alterations in hepatocellular carcinoma: An update.
 雑誌        World J Gastroenterol 22:9069-9095 (2016)
 DOI:10.3748/wjg.v22.i41.9069
 PMID:16799620
 著者        Breuhahn K, Longerich T, Schirmacher P
 タイトル      Dysregulation of growth factor signaling in human hepatocellular carcinoma.
 雑誌        Oncogene 25:3787-800 (2006)
 DOI:10.1038/sj.onc.1209556
 PMID:20639898
 著者        Whittaker S, Marais R, Zhu AX
 タイトル      The role of signaling pathways in the development and treatment of hepatocellular carcinoma.
 雑誌        Oncogene 29:4989-5005 (2010)
 DOI:10.1038/onc.2010.236
 PMID:19387255
 著者        Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM
 タイトル      Pathogenesis of hepatocellular carcinoma and molecular therapies.
 雑誌        Curr Opin Gastroenterol 25:186-94 (2009)
 DOI:10.1097/MOG.0b013e32832962a1
 PMID:15085488
 著者        Suriawinata A, Xu R
 タイトル      An update on the molecular genetics of hepatocellular carcinoma.
 雑誌        Semin Liver Dis 24:77-88 (2004)
 DOI:10.1055/s-2004-823102
 PMID:22922871
 著者        Huang J, Deng Q, Wang Q, Li KY, Dai JH, Li N, Zhu ZD, Zhou B, Liu XY, Liu RF, Fei QL, Chen H, Cai B, Zhou B, Xiao HS, Qin LX, Han ZG
 タイトル      Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma.
 雑誌        Nat Genet 44:1117-21 (2012)
 DOI:10.1038/ng.2391
 PMID:17295177
 著者        Villanueva A, Newell P, Chiang DY, Friedman SL, Llovet JM.
 タイトル      Genomics and signaling pathways in hepatocellular carcinoma.
 雑誌        Semin Liver Dis 27:55-76 (2007)
 DOI:10.1055/s-2006-960171
 PMID:11935086
 著者        Rocken C, Carl-McGrath S.
 タイトル      Pathology and pathogenesis of hepatocellular carcinoma.
 雑誌        Dig Dis 19:269-78 (2001)
 DOI:10.1159/000050693
 PMID:12149612
 著者        Thorgeirsson SS, Grisham JW.
 タイトル      Molecular pathogenesis of human hepatocellular carcinoma.
 雑誌        Nat Genet 31:339-46 (2002)
 DOI:10.1038/ng0802-339
 PMID:21251164 (KEAP1, NFE2L2)
 著者        Taguchi K, Motohashi H, Yamamoto M
 タイトル      Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution.
 雑誌        Genes Cells 16:123-40 (2011)
 DOI:10.1111/j.1365-2443.2010.01473.x
 PMID:22348534 (KEAP1, NFE2L2)
 著者        Yoo NJ, Kim HR, Kim YR, An CH, Lee SH
 タイトル      Somatic mutations of the KEAP1 gene in common solid cancers.
 雑誌        Histopathology 60:943-52 (2012)
 DOI:10.1111/j.1365-2559.2012.04178.x
 PMID:22561517 (CTNNB1, AXIN1, ARID1A, ARID2)
 著者        Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, Pelletier L, Maad IB, Calderaro J, Bioulac-Sage P, Letexier M, Degos F, Clement B, Balabaud C, Chevet E, Laurent A, Couchy G, Letouze E, Calvo F, Zucman-Rossi J
 タイトル      Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.
 雑誌        Nat Genet 44:694-8 (2012)
 DOI:10.1038/ng.2256
 PMID:27508192 (MET)
 著者        Granito A, Guidetti E, Gramantieri L
 タイトル      c-MET receptor tyrosine kinase as a molecular target in advanced hepatocellular carcinoma.
 雑誌        J Hepatocell Carcinoma 2:29-38 (2015)
 DOI:10.2147/JHC.S77038
 PMID:15608678 (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:10.1038/sj.onc.1208304
 PMID:23887712 (TERT)
 著者        Nault JC, Mallet M, Pilati C, Calderaro J, Bioulac-Sage P, Laurent C, Laurent A, Cherqui D, Balabaud C, Zucman-Rossi J
 タイトル      High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions.
 雑誌        Nat Commun 4:2218 (2013)
 DOI:10.1038/ncomms3218
 PMID:15531912 (CASP8)
 著者        Soung YH, Lee JW, Kim SY, Sung YJ, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      Caspase-8 gene is frequently inactivated by the frameshift somatic mutation 1225_1226delTG in hepatocellular carcinomas.
 雑誌        Oncogene 24:141-7 (2005)
 DOI:10.1038/sj.onc.1208244
 PMID:7493029 (IGF2R)
 著者        De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL
 タイトル      M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.
 雑誌        Nat Genet 11:447-9 (1995)
 DOI:10.1038/ng1295-447","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00048"">H00048</a>","肝細胞癌;
 肝癌","Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol or aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in new driver genes involved in the chromatin remodelling (ARID1A and ARID2) and the oxidative stress (NFE2L2) pathways.","<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06118"">nt06118</a>  TGFB signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06119"">nt06119</a>  JAK-STAT signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06124"">nt06124</a>  Chemokine signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06137"">nt06137</a>  OAS/RNase L pathway (viruses)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06162"">nt06162</a>  Hepatitis B virus (HBV)
 <a href=""https://www.kegg.jp/network/nt06163"">nt06163</a>  Hepatitis C virus (HCV)
 <a href=""https://www.kegg.jp/network/nt06263"">nt06263</a>  Hepatocellular carcinoma","TGFA (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7039"">7039</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08774"">K08774</a>]
 IGF2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3481"">3481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13769"">K13769</a>]
 IGF1R (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3480"">3480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05087"">K05087</a>]
 TERT (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 FZD7 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8324"">8324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02432"">K02432</a>]
 HGF (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3082"">3082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05460"">K05460</a>]
 MET (mutation, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 RB1 (loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 CDKN2A (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 TGFBR2 (reduced expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 AXIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8312"">8312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02157"">K02157</a>]
 KEAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9817"">9817</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10456"">K10456</a>]
 NFE2L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4780"">4780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05638"">K05638</a>]
 PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 ARID1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8289"">8289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11653"">K11653</a>]
 ARID2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:196528"">196528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11765"">K11765</a>]
 CASP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:841"">841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04398"">K04398</a>]
 IGF2R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3482"">3482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06564"">K06564</a>]",,,"Aflatoxins (naturally occurring mixtures of) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06800"">C06800</a>]
 Alcoholic beverages
 Opisthorchis viverrini (infection with)
 Radium-224 and its decay products [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16455"">C16455</a>]
 *Chimney sweeping
 *2,3,7,8-Tetrachlorodibenzo-para-dioxin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07557"">C07557</a>]
 *Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
 *Tobacco smoking and tobacco smoke
 *: Although this is a risk factor for liver cancer in general, the strength of association with different histological tumor types is not well understood.
 病原体         Hepatitis B virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40004"">T40004</a>]
 Hepatitis C virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40066"">T40066</a>]","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 マイトマイシンC [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00208"">D00208</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 ソラフェニブトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06272"">D06272</a>]
 レゴラフェニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10137"">D10137</a>]
 カボザンチニブリンゴ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10095"">D10095</a>]
 レンバチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09920"">D09920</a>]
 アテゾリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10773"">D10773</a>]
 ベバシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06409"">D06409</a>]
 ラムシルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09371"">D09371</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 ミリプラチン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06294"">D06294</a>]",,"ICD-11: 2C12.0
 ICD-10: C22
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006528"">D006528</a>
 OMIM: <a href=""https://www.omim.org/entry/114550"">114550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21829020"">21829020</a>
 著者        Kudo M
 タイトル      Signaling pathway and molecular-targeted therapy for hepatocellular carcinoma.
 雑誌        Dig Dis 29:289-302 (2011)
 DOI:<a href=""https://doi.org/10.1159/000327562"">10.1159/000327562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27895396"">27895396</a>
 著者        Niu ZS, Niu XJ, Wang WH
 タイトル      Genetic alterations in hepatocellular carcinoma: An update.
 雑誌        World J Gastroenterol 22:9069-9095 (2016)
 DOI:<a href=""https://doi.org/10.3748/wjg.v22.i41.9069"">10.3748/wjg.v22.i41.9069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16799620"">16799620</a>
 著者        Breuhahn K, Longerich T, Schirmacher P
 タイトル      Dysregulation of growth factor signaling in human hepatocellular carcinoma.
 雑誌        Oncogene 25:3787-800 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1209556"">10.1038/sj.onc.1209556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20639898"">20639898</a>
 著者        Whittaker S, Marais R, Zhu AX
 タイトル      The role of signaling pathways in the development and treatment of hepatocellular carcinoma.
 雑誌        Oncogene 29:4989-5005 (2010)
 DOI:<a href=""https://doi.org/10.1038/onc.2010.236"">10.1038/onc.2010.236</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19387255"">19387255</a>
 著者        Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM
 タイトル      Pathogenesis of hepatocellular carcinoma and molecular therapies.
 雑誌        Curr Opin Gastroenterol 25:186-94 (2009)
 DOI:<a href=""https://doi.org/10.1097/MOG.0b013e32832962a1"">10.1097/MOG.0b013e32832962a1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15085488"">15085488</a>
 著者        Suriawinata A, Xu R
 タイトル      An update on the molecular genetics of hepatocellular carcinoma.
 雑誌        Semin Liver Dis 24:77-88 (2004)
 DOI:<a href=""https://doi.org/10.1055/s-2004-823102"">10.1055/s-2004-823102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22922871"">22922871</a>
 著者        Huang J, Deng Q, Wang Q, Li KY, Dai JH, Li N, Zhu ZD, Zhou B, Liu XY, Liu RF, Fei QL, Chen H, Cai B, Zhou B, Xiao HS, Qin LX, Han ZG
 タイトル      Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma.
 雑誌        Nat Genet 44:1117-21 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2391"">10.1038/ng.2391</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17295177"">17295177</a>
 著者        Villanueva A, Newell P, Chiang DY, Friedman SL, Llovet JM.
 タイトル      Genomics and signaling pathways in hepatocellular carcinoma.
 雑誌        Semin Liver Dis 27:55-76 (2007)
 DOI:<a href=""https://doi.org/10.1055/s-2006-960171"">10.1055/s-2006-960171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11935086"">11935086</a>
 著者        Rocken C, Carl-McGrath S.
 タイトル      Pathology and pathogenesis of hepatocellular carcinoma.
 雑誌        Dig Dis 19:269-78 (2001)
 DOI:<a href=""https://doi.org/10.1159/000050693"">10.1159/000050693</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12149612"">12149612</a>
 著者        Thorgeirsson SS, Grisham JW.
 タイトル      Molecular pathogenesis of human hepatocellular carcinoma.
 雑誌        Nat Genet 31:339-46 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng0802-339"">10.1038/ng0802-339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21251164"">21251164</a> (KEAP1, <a href=""https://pubmed.ncbi.nlm.nih.gov/NFE2L2)"">NFE2L2)</a>
 著者        Taguchi K, Motohashi H, Yamamoto M
 タイトル      Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution.
 雑誌        Genes Cells 16:123-40 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2443.2010.01473.x"">10.1111/j.1365-2443.2010.01473.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22348534"">22348534</a> (KEAP1, <a href=""https://pubmed.ncbi.nlm.nih.gov/NFE2L2)"">NFE2L2)</a>
 著者        Yoo NJ, Kim HR, Kim YR, An CH, Lee SH
 タイトル      Somatic mutations of the KEAP1 gene in common solid cancers.
 雑誌        Histopathology 60:943-52 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2559.2012.04178.x"">10.1111/j.1365-2559.2012.04178.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22561517"">22561517</a> (CTNNB1, <a href=""https://pubmed.ncbi.nlm.nih.gov/AXIN1,"">AXIN1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ARID1A,"">ARID1A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ARID2)"">ARID2)</a>
 著者        Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, Pelletier L, Maad IB, Calderaro J, Bioulac-Sage P, Letexier M, Degos F, Clement B, Balabaud C, Chevet E, Laurent A, Couchy G, Letouze E, Calvo F, Zucman-Rossi J
 タイトル      Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.
 雑誌        Nat Genet 44:694-8 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2256"">10.1038/ng.2256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27508192"">27508192</a> (MET)
 著者        Granito A, Guidetti E, Gramantieri L
 タイトル      c-MET receptor tyrosine kinase as a molecular target in advanced hepatocellular carcinoma.
 雑誌        J Hepatocell Carcinoma 2:29-38 (2015)
 DOI:<a href=""https://doi.org/10.2147/JHC.S77038"">10.2147/JHC.S77038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15608678"">15608678</a> (PIK3CA)
 著者        Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
 雑誌        Oncogene 24:1477-80 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1208304"">10.1038/sj.onc.1208304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23887712"">23887712</a> (TERT)
 著者        Nault JC, Mallet M, Pilati C, Calderaro J, Bioulac-Sage P, Laurent C, Laurent A, Cherqui D, Balabaud C, Zucman-Rossi J
 タイトル      High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions.
 雑誌        Nat Commun 4:2218 (2013)
 DOI:<a href=""https://doi.org/10.1038/ncomms3218"">10.1038/ncomms3218</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15531912"">15531912</a> (CASP8)
 著者        Soung YH, Lee JW, Kim SY, Sung YJ, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      Caspase-8 gene is frequently inactivated by the frameshift somatic mutation 1225_1226delTG in hepatocellular carcinomas.
 雑誌        Oncogene 24:141-7 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1208244"">10.1038/sj.onc.1208244</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493029"">7493029</a> (IGF2R)
 著者        De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL
 タイトル      M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.
 雑誌        Nat Genet 11:447-9 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-447"">10.1038/ng1295-447</a>"
H00049,"粘液様脂肪肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts for approximately 40% to 54% of all liposarcomas. The karyotypic hallmark of myxoid LS is the t(12;16)(q13;p11), present cytogenetically in >90% of the cases. The translocation leads to the fusion of the DDIT3(CHOP) and FUS(TLS) genes at 12q13 and 16p11, respectively, and the generation of a FUS-DDIT3 hybrid protein. In 4 cases of myxoid LS, a variant chromosomal translocation has been described, t(12;22), in which DDIT3 fuses instead with EWSR1(EWS), a gene highly related to TLS.",がん,,"FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
 EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]",,,,,,"ICD-11: 2B59
 ICD-10: C49
 MeSH: D018208","PMID:11229517
 著者        Antonescu CR, Elahi A, Humphrey M, Lui MY, Healey JH, Brennan MF, Woodruff JM, Jhanwar SC, Ladanyi M
 タイトル      Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.
 雑誌        J Mol Diagn 2:132-8 (2000)
 DOI:10.1016/S1525-1578(10)60628-9
 PMID:11378650 (gene, tumor type)
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:12890805 (marker)
 著者        Tateishi U, Hasegawa T, Beppu Y, Kawai A, Moriyama N.
 タイトル      Prognostic significance of grading (MIB-1 system) in patients with myxoid liposarcoma.
 雑誌        J Clin Pathol 56:579-82 (2003)
 DOI:10.1136/jcp.56.8.579
 PMID:7817937 (marker)
 著者        Gibas Z, Miettinen M, Limon J, Nedoszytko B, Mrozek K, Roszkiewicz A, Rys J, Niezabitowski A, Debiec-Rychter M.
 タイトル      Cytogenetic and immunohistochemical profile of myxoid liposarcoma.
 雑誌        Am J Clin Pathol 103:20-6 (1995)
 DOI:10.1093/ajcp/103.1.20
 PMID:7805034 (marker)
 著者        Knight JC, Renwick PJ, Cin PD, Van den Berghe H, Fletcher CD.
 タイトル      Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis.
 雑誌        Cancer Res 55:24-7 (1995)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00049"">H00049</a>","粘液様脂肪肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts for approximately 40% to 54% of all liposarcomas. The karyotypic hallmark of myxoid LS is the t(12;16)(q13;p11), present cytogenetically in >90% of the cases. The translocation leads to the fusion of the DDIT3(CHOP) and FUS(TLS) genes at 12q13 and 16p11, respectively, and the generation of a FUS-DDIT3 hybrid protein. In 4 cases of myxoid LS, a variant chromosomal translocation has been described, t(12;22), in which DDIT3 fuses instead with EWSR1(EWS), a gene highly related to TLS.",,"FUS-DDIT3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1649"">1649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04452"">K04452</a>]
 EWSR1-DDIT3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1649"">1649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04452"">K04452</a>]",,,,,,"ICD-11: 2B59
 ICD-10: C49
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018208"">D018208</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11229517"">11229517</a>
 著者        Antonescu CR, Elahi A, Humphrey M, Lui MY, Healey JH, Brennan MF, Woodruff JM, Jhanwar SC, Ladanyi M
 タイトル      Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.
 雑誌        J Mol Diagn 2:132-8 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60628-9"">10.1016/S1525-1578(10)60628-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12890805"">12890805</a> (marker)
 著者        Tateishi U, Hasegawa T, Beppu Y, Kawai A, Moriyama N.
 タイトル      Prognostic significance of grading (MIB-1 system) in patients with myxoid liposarcoma.
 雑誌        J Clin Pathol 56:579-82 (2003)
 DOI:<a href=""https://doi.org/10.1136/jcp.56.8.579"">10.1136/jcp.56.8.579</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7817937"">7817937</a> (marker)
 著者        Gibas Z, Miettinen M, Limon J, Nedoszytko B, Mrozek K, Roszkiewicz A, Rys J, Niezabitowski A, Debiec-Rychter M.
 タイトル      Cytogenetic and immunohistochemical profile of myxoid liposarcoma.
 雑誌        Am J Clin Pathol 103:20-6 (1995)
 DOI:<a href=""https://doi.org/10.1093/ajcp/103.1.20"">10.1093/ajcp/103.1.20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7805034"">7805034</a> (marker)
 著者        Knight JC, Renwick PJ, Cin PD, Van den Berghe H, Fletcher CD.
 タイトル      Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis.
 雑誌        Cancer Res 55:24-7 (1995)"
H00050,"滑膜肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Synovial sarcomas account for 7% to 10% of all human soft-tissue sarcomas. The tumors arise at any age, but affect mainly young adults and more commonly males. Clinically, they appear as deep-seated slowly growing masses. In more than half of the cases, metastases develop, primarily to the lungs but also to the lymph nodes and bone marrow. A specific translocation, t(X; 18)(p11.2; q11.2), is found in more than 90% of reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints of the t(X; 18) have been cloned and shown to involve the fusion of the SYT gene at 18q11 to either of two highly homologous genes at Xp11 called SSX1 and SSX2. The SYT-SSX1 fusion is associated with biphasic morphology and a worse prognosis, whereas the SYT-SSX2 fusion tends to show monophasic morphology and better outcome.",がん,,"SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
 SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
 IGF-IR (overexpression) [HSA:3480] [KO:K05087]",,,,,,"ICD-11: 2B5A
 ICD-10: C49
 MeSH: D013584","PMID:11107170
 著者        dos Santos NR, de Bruijn DR, van Kessel AG
 タイトル      Molecular mechanisms underlying human synovial sarcoma development.
 雑誌        Genes Chromosomes Cancer 30:1-14 (2001)
 DOI:10.1002/1098-2264(2000)9999:9999<::AID-GCC1056>3.0.CO;2-G
 PMID:11378650 (gene, tumor type)
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:10516379
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:10.1053/SRAO00900315
 PMID:10824918 (marker)
 著者        Inagaki H, Nagasaka T, Otsuka T, Sugiura E, Nakashima N, Eimoto T.
 タイトル      Association of SYT-SSX fusion types with proliferative activity and prognosis in synovial sarcoma.
 雑誌        Mod Pathol 13:482-8 (2000)
 DOI:10.1038/modpathol.3880083
 PMID:11826189 (marker)
 著者        Bijwaard KE, Fetsch JF, Przygodzki R, Taubenberger JK, Lichy JH.
 タイトル      Detection of SYT-SSX fusion transcripts in archival synovial sarcomas by real-time reverse transcriptase-polymerase chain reaction.
 雑誌        J Mol Diagn 4:59-64 (2002)
 DOI:10.1016/S1525-1578(10)60681-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00050"">H00050</a>","滑膜肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Synovial sarcomas account for 7% to 10% of all human soft-tissue sarcomas. The tumors arise at any age, but affect mainly young adults and more commonly males. Clinically, they appear as deep-seated slowly growing masses. In more than half of the cases, metastases develop, primarily to the lungs but also to the lymph nodes and bone marrow. A specific translocation, t(X; 18)(p11.2; q11.2), is found in more than 90% of reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints of the t(X; 18) have been cloned and shown to involve the fusion of the SYT gene at 18q11 to either of two highly homologous genes at Xp11 called SSX1 and SSX2. The SYT-SSX1 fusion is associated with biphasic morphology and a worse prognosis, whereas the SYT-SSX2 fusion tends to show monophasic morphology and better outcome.",,"SYT-SSX1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6756"">6756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15624"">K15624</a>]
 SYT-SSX2 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6757"">6757</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15625"">K15625</a>]
 IGF-IR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3480"">3480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05087"">K05087</a>]",,,,,,"ICD-11: 2B5A
 ICD-10: C49
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013584"">D013584</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11107170"">11107170</a>
 著者        dos Santos NR, de Bruijn DR, van Kessel AG
 タイトル      Molecular mechanisms underlying human synovial sarcoma development.
 雑誌        Genes Chromosomes Cancer 30:1-14 (2001)
 DOI:<a href=""https://doi.org/10.1002/1098-2264(2000)9999:"">10.1002/1098-2264(2000)9999:</a><a href=""https://doi.org/9999<:"">9999<:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-GCC1056>3.0.CO;2-G"">AID-GCC1056>3.0.CO;2-G</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10516379"">10516379</a>
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:<a href=""https://doi.org/10.1053/SRAO00900315"">10.1053/SRAO00900315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10824918"">10824918</a> (marker)
 著者        Inagaki H, Nagasaka T, Otsuka T, Sugiura E, Nakashima N, Eimoto T.
 タイトル      Association of SYT-SSX fusion types with proliferative activity and prognosis in synovial sarcoma.
 雑誌        Mod Pathol 13:482-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/modpathol.3880083"">10.1038/modpathol.3880083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11826189"">11826189</a> (marker)
 著者        Bijwaard KE, Fetsch JF, Przygodzki R, Taubenberger JK, Lichy JH.
 タイトル      Detection of SYT-SSX fusion transcripts in archival synovial sarcomas by real-time reverse transcriptase-polymerase chain reaction.
 雑誌        J Mol Diagn 4:59-64 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60681-2"">10.1016/S1525-1578(10)60681-2</a>"
H00051,"胞巣状軟部肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TEF3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.",がん,,ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105],,,,,,"ICD-11: 2B5K
 ICD-10: C49
 MeSH: D018234
 OMIM: 606243","PMID:17516754
 著者        Zarrin-Khameh N, Kaye KS
 タイトル      Alveolar soft part sarcoma.
 雑誌        Arch Pathol Lab Med 131:488-91 (2007)
 DOI:10.1043/1543-2165(2007)131[488:ASPS]2.0.CO;2
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:11378650
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:17071801
 著者        Folpe AL, Deyrup AT.
 タイトル      Alveolar soft-part sarcoma: a review and update.
 雑誌        J Clin Pathol 59:1127-32 (2006)
 DOI:10.1136/jcp.2005.031120
 PMID:12766578 (TFE3)
 著者        Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M.
 タイトル      Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.
 雑誌        Am J Surg Pathol 27:750-61 (2003)
 DOI:10.1097/00000478-200306000-00005
 PMID:30744536 (ASPSCR1-TFE3)
 著者        Ruffle A, Cameron M, Jonas N, Levine S, Mills C, Hook CE, Murray MJ
 タイトル      Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.
 雑誌        Pediatr Dev Pathol 22:391-395 (2019)
 DOI:10.1177/1093526619830290","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00051"">H00051</a>","胞巣状軟部肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TEF3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.",,"ASPSCR1-TFE3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79058"">79058</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7030"">7030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15627"">K15627</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09105"">K09105</a>]",,,,,,"ICD-11: 2B5K
 ICD-10: C49
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018234"">D018234</a>
 OMIM: <a href=""https://www.omim.org/entry/606243"">606243</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17516754"">17516754</a>
 著者        Zarrin-Khameh N, Kaye KS
 タイトル      Alveolar soft part sarcoma.
 雑誌        Arch Pathol Lab Med 131:488-91 (2007)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2007)131[488:"">10.1043/1543-2165(2007)131[488:</a><a href=""https://doi.org/ASPS]2.0.CO;2"">ASPS]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17071801"">17071801</a>
 著者        Folpe AL, Deyrup AT.
 タイトル      Alveolar soft-part sarcoma: a review and update.
 雑誌        J Clin Pathol 59:1127-32 (2006)
 DOI:<a href=""https://doi.org/10.1136/jcp.2005.031120"">10.1136/jcp.2005.031120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12766578"">12766578</a> (TFE3)
 著者        Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M.
 タイトル      Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.
 雑誌        Am J Surg Pathol 27:750-61 (2003)
 DOI:<a href=""https://doi.org/10.1097/00000478-200306000-00005"">10.1097/00000478-200306000-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30744536"">30744536</a> (ASPSCR1-TFE3)
 著者        Ruffle A, Cameron M, Jonas N, Levine S, Mills C, Hook CE, Murray MJ
 タイトル      Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.
 雑誌        Pediatr Dev Pathol 22:391-395 (2019)
 DOI:<a href=""https://doi.org/10.1177/1093526619830290"">10.1177/1093526619830290</a>"
H00052,"明細胞肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Soft tissue sarcomas account for only about 1% of all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the translocation t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic for CCS and can be used as a diagnostic marker of this neoplasia.",がん,,EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053],,,,,,"ICD-11: 2B5K
 ICD-10: C49
 MeSH: D018227","PMID:17192915
 著者        Malchau SS, Hayden J, Hornicek F, Mankin HJ
 タイトル      Clear cell sarcoma of soft tissues.
 雑誌        J Surg Oncol 95:519-22 (2007)
 DOI:10.1002/jso.20730
 PMID:12935923 (description, gene, marker)
 著者        Teixeira MR, Ribeiro FR, Cerveira N, Torres L, Amaro T, Henrique R, Lopes C
 タイトル      Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1.
 雑誌        Cancer Genet Cytogenet 145:121-5 (2003)
 DOI:10.1016/S0165-4608(03)00063-3
 PMID:11378650 (gene, tumor type)
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:10516379
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:10.1053/SRAO00900315
 PMID:15677980 (marker)
 著者        Kim YC, Vandersteen DP, Jung HG.
 タイトル      Myxoid clear cell sarcoma.
 雑誌        Am J Dermatopathol 27:51-5 (2005)
 DOI:10.1097/01.dad.0000141547.31306.4e
 PMID:11892024 (marker)
 著者        Tong TR, Chow TC, Chan OW, Lee KC, Yeung SH, Lam A, Yu CK.
 タイトル      Clear-cell sarcoma diagnosis by fine-needle aspiration: cytologic, histologic, and ultrastructural features; potential pitfalls; and literature review.
 雑誌        Diagn Cytopathol 26:174-80 (2002)
 DOI:10.1002/dc.10081
 PMID:11863218 (marker)
 著者        Creager AJ, Pitman MB, Geisinger KR.
 タイトル      Cytologic features of clear cell sarcoma (malignant melanoma) of soft parts: a study of fine-needle aspirates and exfoliative specimens.
 雑誌        Am J Clin Pathol 117:217-24 (2002)
 DOI:10.1309/D17Q-2MWA-HVNX-H7RD","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00052"">H00052</a>","明細胞肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Soft tissue sarcomas account for only about 1% of all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the translocation t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic for CCS and can be used as a diagnostic marker of this neoplasia.",,"EWSR1-ATF1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:466"">466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09053"">K09053</a>]",,,,,,"ICD-11: 2B5K
 ICD-10: C49
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018227"">D018227</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17192915"">17192915</a>
 著者        Malchau SS, Hayden J, Hornicek F, Mankin HJ
 タイトル      Clear cell sarcoma of soft tissues.
 雑誌        J Surg Oncol 95:519-22 (2007)
 DOI:<a href=""https://doi.org/10.1002/jso.20730"">10.1002/jso.20730</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12935923"">12935923</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Teixeira MR, Ribeiro FR, Cerveira N, Torres L, Amaro T, Henrique R, Lopes C
 タイトル      Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1.
 雑誌        Cancer Genet Cytogenet 145:121-5 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0165-4608(03)00063-3"">10.1016/S0165-4608(03)00063-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10516379"">10516379</a>
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:<a href=""https://doi.org/10.1053/SRAO00900315"">10.1053/SRAO00900315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15677980"">15677980</a> (marker)
 著者        Kim YC, Vandersteen DP, Jung HG.
 タイトル      Myxoid clear cell sarcoma.
 雑誌        Am J Dermatopathol 27:51-5 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.dad.0000141547.31306.4e"">10.1097/01.dad.0000141547.31306.4e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11892024"">11892024</a> (marker)
 著者        Tong TR, Chow TC, Chan OW, Lee KC, Yeung SH, Lam A, Yu CK.
 タイトル      Clear-cell sarcoma diagnosis by fine-needle aspiration: cytologic, histologic, and ultrastructural features; potential pitfalls; and literature review.
 雑誌        Diagn Cytopathol 26:174-80 (2002)
 DOI:<a href=""https://doi.org/10.1002/dc.10081"">10.1002/dc.10081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11863218"">11863218</a> (marker)
 著者        Creager AJ, Pitman MB, Geisinger KR.
 タイトル      Cytologic features of clear cell sarcoma (malignant melanoma) of soft parts: a study of fine-needle aspirates and exfoliative specimens.
 雑誌        Am J Clin Pathol 117:217-24 (2002)
 DOI:<a href=""https://doi.org/10.1309/D17Q-2MWA-HVNX-H7RD"">10.1309/D17Q-2MWA-HVNX-H7RD</a>"
H00053,"粘液様軟骨肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.",がん,,"EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
 TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]",,,,,,"ICD-11: 2B50
 ICD-10: C41
 MeSH: D002813","PMID:12599237
 著者        Kawaguchi S, Wada T, Nagoya S, Ikeda T, Isu K, Yamashiro K, Kawai A, Ishii T, Araki N, Myoui A, Matsumoto S, Umeda T, Yoshikawa H, Hasegawa T
 タイトル      Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan.
 雑誌        Cancer 97:1285-92 (2003)
 DOI:10.1002/cncr.11162
 PMID:11378650 (gene, tumor type)
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:10.1177/107327480100800304
 PMID:12951587
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:10.1038/nrc1168
 PMID:10516379
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:10.1053/SRAO00900315
 PMID:11679947 (marker)
 著者        Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H.
 タイトル      Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases.
 雑誌        Hum Pathol 32:1116-24 (2001)
 DOI:10.1053/hupa.2001.28226
 PMID:10955458 (marker)
 著者        Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG.
 タイトル      Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases.
 雑誌        Mod Pathol 13:900-8 (2000)
 DOI:10.1038/modpathol.3880161","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00053"">H00053</a>","粘液様軟骨肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.",,"EWSR1-NR4A3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8013"">8013</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08559"">K08559</a>]
 TAF15-NR4A3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8013"">8013</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08559"">K08559</a>]",,,,,,"ICD-11: 2B50
 ICD-10: C41
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002813"">D002813</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12599237"">12599237</a>
 著者        Kawaguchi S, Wada T, Nagoya S, Ikeda T, Isu K, Yamashiro K, Kawai A, Ishii T, Araki N, Myoui A, Matsumoto S, Umeda T, Yoshikawa H, Hasegawa T
 タイトル      Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan.
 雑誌        Cancer 97:1285-92 (2003)
 DOI:<a href=""https://doi.org/10.1002/cncr.11162"">10.1002/cncr.11162</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378650"">11378650</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Letson GD, Muro-Cacho CA.
 タイトル      Genetic and molecular abnormalities in tumors of the bone and soft tissues.
 雑誌        Cancer Control 8:239-51 (2001)
 DOI:<a href=""https://doi.org/10.1177/107327480100800304"">10.1177/107327480100800304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12951587"">12951587</a>
 著者        Helman LJ, Meltzer P.
 タイトル      Mechanisms of sarcoma development.
 雑誌        Nat Rev Cancer 3:685-94 (2003)
 DOI:<a href=""https://doi.org/10.1038/nrc1168"">10.1038/nrc1168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10516379"">10516379</a>
 著者        Fisher C.
 タイトル      Current aspects of the pathology of soft tissue sarcomas.
 雑誌        Semin Radiat Oncol 9:315-27 (1999)
 DOI:<a href=""https://doi.org/10.1053/SRAO00900315"">10.1053/SRAO00900315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11679947"">11679947</a> (marker)
 著者        Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H.
 タイトル      Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases.
 雑誌        Hum Pathol 32:1116-24 (2001)
 DOI:<a href=""https://doi.org/10.1053/hupa.2001.28226"">10.1053/hupa.2001.28226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10955458"">10955458</a> (marker)
 著者        Oliveira AM, Sebo TJ, McGrory JE, Gaffey TA, Rock MG, Nascimento AG.
 タイトル      Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and ploidy analysis of 23 cases.
 雑誌        Mod Pathol 13:900-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/modpathol.3880161"">10.1038/modpathol.3880161</a>"
H00054,鼻咽頭癌,,,"Nasopharyngeal carcinoma (NPC) is a rare disease in most parts of the world, with an age-standardised annual incidence of less than 1 per 100000. However, in Southern China, parts of Southeast Asia and the Mediterranean basin, NPC is an endemic disease with an incidence of 10-30 per 100000. Genome-wide studies have unravelled multiple chromosomal abnormalities with involvement of specific oncogenes and tumor suppressor genes. Alterations of genes such as Ras association domain family 1A (RASSF1A), p16/INK4A, p14/ARF suggest that multiple cellular pathways were dysregulated in the NPC cells. Studies on the precancerous lesions revealed early genetic changes and a critical role of Epstein- Barr virus (EBV) latent infection in the development of this cancer.",がん,,"(NPCA3) MST1R [HSA:4486] [KO:K05100]
 RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
 CDKN2A (promoter hypermethylation) [HSA:1029] [KO:K06621]
 BCL2 (overexpression) [HSA:596] [KO:K02161]
 EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198]
 CADM1 (promoter hypermethylation) [HSA:23705] [KO:K06781]
 CDH1 (decreased expression) [HSA:999] [KO:K05689]",,,"Formaldehyde [CPD:C00067]
 Salted fish (Chinese-style)
 Tobacco smoking and tobacco smoke
 Wood dust
 病原体         Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]",,,"ICD-11: 2B6B
 ICD-10: C11
 MeSH: D009303
 OMIM: 617075","PMID:26951679 (NPCA3)
 著者        Dai W, Zheng H, Cheung AK, Tang CS, Ko JM, Wong BW, Leong MM, Sham PC, Cheung F, Kwong DL, Ngan RK, Ng WT, Yau CC, Pan J, Peng X, Tung S, Zhang Z, Ji M, Chiang AK, Lee AW, Lee VH, Lam KO, Au KH, Cheng HC, Yiu HH, Lung ML
 タイトル      Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
 雑誌        Proc Natl Acad Sci U S A 113:3317-22 (2016)
 DOI:10.1073/pnas.1523436113
 PMID:12450731 (GENE)
 著者        Lo KW, Huang DP.
 タイトル      Genetic and epigenetic changes in nasopharyngeal carcinoma.
 雑誌        Semin Cancer Biol 12:451-62 (2002)
 DOI:10.1016/S1044579X02000883
 PMID:15958470
 著者        Chan AT
 タイトル      Head and neck cancer: treatment of nasopharyngeal cancer.
 雑誌        Ann Oncol 16 Suppl 2:ii265-8 (2005)
 DOI:10.1093/annonc/mdi732
 PMID:15510157
 著者        Young LS, Rickinson AB.
 タイトル      Epstein-Barr virus: 40 years on.
 雑誌        Nat Rev Cancer 4:757-68 (2004)
 DOI:10.1038/nrc1452","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00054"">H00054</a>",鼻咽頭癌,"Nasopharyngeal carcinoma (NPC) is a rare disease in most parts of the world, with an age-standardised annual incidence of less than 1 per 100000. However, in Southern China, parts of Southeast Asia and the Mediterranean basin, NPC is an endemic disease with an incidence of 10-30 per 100000. Genome-wide studies have unravelled multiple chromosomal abnormalities with involvement of specific oncogenes and tumor suppressor genes. Alterations of genes such as Ras association domain family 1A (RASSF1A), p16/INK4A, p14/ARF suggest that multiple cellular pathways were dysregulated in the NPC cells. Studies on the precancerous lesions revealed early genetic changes and a critical role of Epstein- Barr virus (EBV) latent infection in the development of this cancer.",,"(NPCA3) MST1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4486"">4486</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05100"">K05100</a>]
 RASSF1 (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11186"">11186</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09850"">K09850</a>]
 CDKN2A (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 BCL2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 EDNRB (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1910"">1910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04198"">K04198</a>]
 CADM1 (promoter hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23705"">23705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06781"">K06781</a>]
 CDH1 (decreased expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]",,,"Formaldehyde [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00067"">C00067</a>]
 Salted fish (Chinese-style)
 Tobacco smoking and tobacco smoke
 Wood dust
 病原体         Human herpesvirus 4 (Epstein-Barr virus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40079"">T40079</a>]",,,"ICD-11: 2B6B
 ICD-10: C11
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009303"">D009303</a>
 OMIM: <a href=""https://www.omim.org/entry/617075"">617075</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26951679"">26951679</a> (NPCA3)
 著者        Dai W, Zheng H, Cheung AK, Tang CS, Ko JM, Wong BW, Leong MM, Sham PC, Cheung F, Kwong DL, Ngan RK, Ng WT, Yau CC, Pan J, Peng X, Tung S, Zhang Z, Ji M, Chiang AK, Lee AW, Lee VH, Lam KO, Au KH, Cheng HC, Yiu HH, Lung ML
 タイトル      Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
 雑誌        Proc Natl Acad Sci U S A 113:3317-22 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1523436113"">10.1073/pnas.1523436113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12450731"">12450731</a> (GENE)
 著者        Lo KW, Huang DP.
 タイトル      Genetic and epigenetic changes in nasopharyngeal carcinoma.
 雑誌        Semin Cancer Biol 12:451-62 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1044579X02000883"">10.1016/S1044579X02000883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15958470"">15958470</a>
 著者        Chan AT
 タイトル      Head and neck cancer: treatment of nasopharyngeal cancer.
 雑誌        Ann Oncol 16 Suppl 2:ii265-8 (2005)
 DOI:<a href=""https://doi.org/10.1093/annonc/mdi732"">10.1093/annonc/mdi732</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15510157"">15510157</a>
 著者        Young LS, Rickinson AB.
 タイトル      Epstein-Barr virus: 40 years on.
 雑誌        Nat Rev Cancer 4:757-68 (2004)
 DOI:<a href=""https://doi.org/10.1038/nrc1452"">10.1038/nrc1452</a>"
H00055,"喉頭癌
 上位グループ    頭頸部癌 [DS:H02420]
 固形腫瘍 [DS:H02421]",,,"Laryngeal cancer is one of the most common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of all laryngeal cancers, some 95% are squamous cell carcinomas. Some molecular events have been described in laryngeal squamous cell carcinoma (LSCC). Although tumor suppressor inactivation of p53 and p16 is common in these tumors (about 50% each), oncogenic activation is less well characterized. Cyclin D1 and epidermal growth factor receptor amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas c-myc could be amplified in 13% of cases although without associated overexpression.",がん,,"p53 (mutation) [HSA:7157] [KO:K04451]
 p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
 Cyclin D1 (amplification) [HSA:595] [KO:K04503]
 EGFR (amplification) [HSA:1956] [KO:K04361]
 c-MYC (amplification) [HSA:4609] [KO:K04377]
 Cyclin E (amplification) [HSA:898 9134] [KO:K06626]",,,"Alcoholic beverages
 Betel quid with tobacco
 Coal-tar pitches [CPD:C16451]
 Isopropyl alcohol manufacture (strong-acid process)
 Mineral oils, untreated and mildly treated
 Paving and roofing with coal-tar pitch
 Strong-inorganic-acid mists containing sulfuric acid
 Tobacco smoking and tobacco smoke","ブレオマイシン塩酸塩 [DR:D03229]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2C23
 ICD-10: C32
 MeSH: D007822","PMID:12853099 (description, gene, tumor type)
 著者        Licitra L, Bernier J, Grandi C, Locati L, Merlano M, Gatta G, Lefebvre JL
 タイトル      Cancer of the larynx.
 雑誌        Crit Rev Oncol Hematol 47:65-80 (2003)
 DOI:10.1016/S1040-8428(03)00017-9
 PMID:12536308 (description, gene, tumor type)
 著者        Nadal A, Cardesa A.
 タイトル      Molecular biology of laryngeal squamous cell carcinoma.
 雑誌        Virchows Arch 442:1-7 (2003)
 DOI:10.1007/s00428-002-0726-6
 PMID:17530489 (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:10.1080/07357900701208733
 PMID:17646865 (carcinogen)
 著者        Seitz HK, Stickel F.
 タイトル      Molecular mechanisms of alcohol-mediated carcinogenesis.
 雑誌        Nat Rev Cancer 7:599-612 (2007)
 DOI:10.1038/nrc2191
 PMID:15957167 (carcinogen)
 著者        Lee KW, Kuo WR, Tsai SM, Wu DC, Wang WM, Fang FM, Chiang FY, Ho KY, Wang LF, Tai CF, Kao EL, Chou SH, Lee CH, Chai CY, Ko YC.
 タイトル      Different impact from betel quid, alcohol and cigarette: risk factors for pharyngeal and laryngeal cancer.
 雑誌        Int J Cancer 117:831-6 (2005)
 DOI:10.1002/ijc.21237
 PMID:9498904 (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:10.1023/a:1018465507029
 PMID:8189372 (carcinogen)
 著者        Wong O, Foliart DE.
 タイトル      Epidemiological factors of cancer in Louisiana.
 雑誌        J Environ Pathol Toxicol Oncol 12:171-83 (1993)
 PMID:9498901 (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:10.1023/a:1018409422050
 PMID:10723042 (carcinogen)
 著者        Stern FB, Ruder AM, Chen G.
 タイトル      Proportionate mortality among unionized roofers and waterproofers.
 雑誌        Am J Ind Med 37:478-92 (2000)
 DOI:10.1002/(SICI)1097-0274(200005)37:5<478::AID-AJIM4>3.0.CO;2-8
 PMID:17032693 (carcinogen)
 著者        Hsu YM, Wu CY, Lundgren DA, Birky BK.
 タイトル      Size-resolved sulfuric acid mist concentrations at phosphate fertilizer manufacturing facilities in Florida.
 雑誌        Ann Occup Hyg 51:81-9 (2007)
 DOI:10.1093/annhyg/mel066
 PMID:9498905 (carcinogen)
 著者        Blair A, Kazerouni N.
 タイトル      Reactive chemicals and cancer.
 雑誌        Cancer Causes Control 8:473-90 (1997)
 DOI:10.1023/a:1018417623867
 PMID:15489140 (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:10.1016/j.semcancer.2004.06.010
 PMID:15552776 (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:10.1016/j.lungcan.2004.07.998
 PMID:10764231 (marker)
 著者        Greenman J, Homer JJ, Stafford ND.
 タイトル      Markers in cancer of the larynx and pharynx.
 雑誌        Clin Otolaryngol Allied Sci 25:9-18 (2000)
 DOI:10.1046/j.1365-2273.2000.00339.x
 PMID:15763643 (marker)
 著者        Almadori G, Bussu F, Cadoni G, Galli J, Paludetti G, Maurizi M.
 タイトル      Molecular markers in laryngeal squamous cell carcinoma: towards an integrated clinicobiological approach.
 雑誌        Eur J Cancer 41:683-93 (2005)
 DOI:10.1016/j.ejca.2004.10.031
 PMID:11016683 (marker)
 著者        Nylander K, Dabelsteen E, Hall PA.
 タイトル      The p53 molecule and its prognostic role in squamous cell carcinomas of the head and neck.
 雑誌        J Oral Pathol Med 29:413-25 (2000)
 DOI:10.1034/j.1600-0714.2000.290901.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00055"">H00055</a>","喉頭癌
 上位グループ    頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Laryngeal cancer is one of the most common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of all laryngeal cancers, some 95% are squamous cell carcinomas. Some molecular events have been described in laryngeal squamous cell carcinoma (LSCC). Although tumor suppressor inactivation of p53 and p16 is common in these tumors (about 50% each), oncogenic activation is less well characterized. Cyclin D1 and epidermal growth factor receptor amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas c-myc could be amplified in 13% of cases although without associated overexpression.",,"p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 p16/INK4A (mutation, LOH, hypermethylation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 Cyclin D1 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 EGFR (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 c-MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 Cyclin E (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:898"">898</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9134"">9134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06626"">K06626</a>]",,,"Alcoholic beverages
 Betel quid with tobacco
 Coal-tar pitches [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C16451"">C16451</a>]
 Isopropyl alcohol manufacture (strong-acid process)
 Mineral oils, untreated and mildly treated
 Paving and roofing with coal-tar pitch
 Strong-inorganic-acid mists containing sulfuric acid
 Tobacco smoking and tobacco smoke","ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2C23
 ICD-10: C32
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007822"">D007822</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12853099"">12853099</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Licitra L, Bernier J, Grandi C, Locati L, Merlano M, Gatta G, Lefebvre JL
 タイトル      Cancer of the larynx.
 雑誌        Crit Rev Oncol Hematol 47:65-80 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1040-8428(03)00017-9"">10.1016/S1040-8428(03)00017-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12536308"">12536308</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Nadal A, Cardesa A.
 タイトル      Molecular biology of laryngeal squamous cell carcinoma.
 雑誌        Virchows Arch 442:1-7 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00428-002-0726-6"">10.1007/s00428-002-0726-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530489"">17530489</a> (carcinogen)
 著者        Abnet CC.
 タイトル      Carcinogenic food contaminants.
 雑誌        Cancer Invest 25:189-96 (2007)
 DOI:<a href=""https://doi.org/10.1080/07357900701208733"">10.1080/07357900701208733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17646865"">17646865</a> (carcinogen)
 著者        Seitz HK, Stickel F.
 タイトル      Molecular mechanisms of alcohol-mediated carcinogenesis.
 雑誌        Nat Rev Cancer 7:599-612 (2007)
 DOI:<a href=""https://doi.org/10.1038/nrc2191"">10.1038/nrc2191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15957167"">15957167</a> (carcinogen)
 著者        Lee KW, Kuo WR, Tsai SM, Wu DC, Wang WM, Fang FM, Chiang FY, Ho KY, Wang LF, Tai CF, Kao EL, Chou SH, Lee CH, Chai CY, Ko YC.
 タイトル      Different impact from betel quid, alcohol and cigarette: risk factors for pharyngeal and laryngeal cancer.
 雑誌        Int J Cancer 117:831-6 (2005)
 DOI:<a href=""https://doi.org/10.1002/ijc.21237"">10.1002/ijc.21237</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498904"">9498904</a> (carcinogen)
 著者        Boffetta P, Jourenkova N, Gustavsson P.
 タイトル      Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
 雑誌        Cancer Causes Control 8:444-72 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018465507029"">1018465507029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8189372"">8189372</a> (carcinogen)
 著者        Wong O, Foliart DE.
 タイトル      Epidemiological factors of cancer in Louisiana.
 雑誌        J Environ Pathol Toxicol Oncol 12:171-83 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498901"">9498901</a> (carcinogen)
 著者        Tolbert PE.
 タイトル      Oils and cancer.
 雑誌        Cancer Causes Control 8:386-405 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018409422050"">1018409422050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10723042"">10723042</a> (carcinogen)
 著者        Stern FB, Ruder AM, Chen G.
 タイトル      Proportionate mortality among unionized roofers and waterproofers.
 雑誌        Am J Ind Med 37:478-92 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1097-0274(200005)37:"">10.1002/(SICI)1097-0274(200005)37:</a><a href=""https://doi.org/5<478:"">5<478:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJIM4>3.0.CO;2-8"">AID-AJIM4>3.0.CO;2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17032693"">17032693</a> (carcinogen)
 著者        Hsu YM, Wu CY, Lundgren DA, Birky BK.
 タイトル      Size-resolved sulfuric acid mist concentrations at phosphate fertilizer manufacturing facilities in Florida.
 雑誌        Ann Occup Hyg 51:81-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/annhyg/mel066"">10.1093/annhyg/mel066</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9498905"">9498905</a> (carcinogen)
 著者        Blair A, Kazerouni N.
 タイトル      Reactive chemicals and cancer.
 雑誌        Cancer Causes Control 8:473-90 (1997)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1018417623867"">1018417623867</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489140"">15489140</a> (carcinogen)
 著者        Wogan GN, Hecht SS, Felton JS, Conney AH, Loeb LA.
 タイトル      Environmental and chemical carcinogenesis.
 雑誌        Semin Cancer Biol 14:473-86 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.semcancer.2004.06.010"">10.1016/j.semcancer.2004.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15552776"">15552776</a> (carcinogen)
 著者        Sasco AJ, Secretan MB, Straif K.
 タイトル      Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
 雑誌        Lung Cancer 45 Suppl 2:S3-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.lungcan.2004.07.998"">10.1016/j.lungcan.2004.07.998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10764231"">10764231</a> (marker)
 著者        Greenman J, Homer JJ, Stafford ND.
 タイトル      Markers in cancer of the larynx and pharynx.
 雑誌        Clin Otolaryngol Allied Sci 25:9-18 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2273.2000.00339.x"">10.1046/j.1365-2273.2000.00339.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15763643"">15763643</a> (marker)
 著者        Almadori G, Bussu F, Cadoni G, Galli J, Paludetti G, Maurizi M.
 タイトル      Molecular markers in laryngeal squamous cell carcinoma: towards an integrated clinicobiological approach.
 雑誌        Eur J Cancer 41:683-93 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ejca.2004.10.031"">10.1016/j.ejca.2004.10.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11016683"">11016683</a> (marker)
 著者        Nylander K, Dabelsteen E, Hall PA.
 タイトル      The p53 molecule and its prognostic role in squamous cell carcinomas of the head and neck.
 雑誌        J Oral Pathol Med 29:413-25 (2000)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0714.2000.290901.x"">10.1034/j.1600-0714.2000.290901.x</a>"
H00056,"アルツハイマー病;
 アルツハイマー型認知症",,,"Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2), and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specifically the more amyloidogenic form, Abeta42. It was proposed that Abeta forms Ca2+ permeable pores and binds to and modulates multiple synaptic proteins, including NMDAR, mGluR5, and VGCC, leading to the overfilling of neurons with calcium ions. Consequently, cellular Ca2+ disruptions will lead to neuronal apoptosis, autophagy deficits, mitochondrial abnormality, defective neurotransmission, impaired synaptic plasticity, and neurodegeneration in AD. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.",神経変性疾患,"nt06410  Calcium signaling
 nt06412  Unfolded protein response (UPR) signaling
 nt06414  Apoptosis
 nt06417  AGE-RAGE signaling
 nt06418  Oxidative phosphorylation
 nt06419  Microtubule-based transport
 nt06420  Ubiquitin-proteasome system
 nt06460  Alzheimer disease","(AD1) APP [HSA:351] [KO:K04520]
 (AD2) APOE [HSA:348] [KO:K04524]
 (AD3) PSEN1 [HSA:5663] [KO:K04505]
 (AD4) PSEN2 [HSA:5664] [KO:K04522]
 (AD9) ABCA7 [HSA:10347] [KO:K05645]
 (AD18) ADAM10 [HSA:102] [KO:K06704]",,,,"ドネペジル塩酸塩 [DR:D00670]
 リバスチグミン [DR:D03822]
 ガランタミン臭化水素酸塩 [DR:D02173]
 メマンチン塩酸塩 [DR:D04905]","Disease class: tauopathy
 Affected region: hippocampus, cerebral cortex
 Microscopic lesion: amyloid plaques, neurofibrillary tangles, Lewy bodies (seen in Lewy body variant)","ICD-11: 8A20
 ICD-10: G30
 MeSH: D000544
 OMIM: 104300 104310 607822 606889 608907 615590","PMID:19679070 (AD2)
 著者        Kim J, Basak JM, Holtzman DM
 タイトル      The role of apolipoprotein E in Alzheimer's disease.
 雑誌        Neuron 63:287-303 (2009)
 DOI:10.1016/j.neuron.2009.06.026
 PMID:19524503
 著者        Kim D, Tsai LH
 タイトル      Bridging physiology and pathology in AD.
 雑誌        Cell 137:997-1000 (2009)
 DOI:10.1016/j.cell.2009.05.042
 PMID:18802446
 著者        Bertram L, Tanzi RE
 タイトル      Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses.
 雑誌        Nat Rev Neurosci 9:768-78 (2008)
 DOI:10.1038/nrn2494
 PMID:18414205
 著者        Bird TD
 タイトル      Genetic aspects of Alzheimer disease.
 雑誌        Genet Med 10:231-9 (2008)
 DOI:10.1097/GIM.0b013e31816b64dc
 PMID:17158517
 著者        Thomas P, Fenech M
 タイトル      A review of genome mutation and Alzheimer's disease.
 雑誌        Mutagenesis 22:15-33 (2007)
 DOI:10.1093/mutage/gel055
 PMID:17082447
 著者        Goedert M, Spillantini MG
 タイトル      A century of Alzheimer's disease.
 雑誌        Science 314:777-81 (2006)
 DOI:10.1126/science.1132814
 PMID:16631796 (AD2)
 著者        Fazekas F, Enzinger C, Ropele S, Schmidt H, Schmidt R, Strasser-Fuchs S
 タイトル      The impact of our genes: consequences of the apolipoprotein E polymorphism in Alzheimer disease and multiple sclerosis.
 雑誌        J Neurol Sci 245:35-9 (2006)
 DOI:10.1016/j.jns.2005.08.018
 PMID:12788204
 著者        Rocchi A, Pellegrini S, Siciliano G, Murri L.
 タイトル      Causative and susceptibility genes for Alzheimer's disease: a review.
 雑誌        Brain Res Bull 61:1-24 (2003)
 DOI:10.1016/S0361-9230(03)00067-4
 PMID:1303291 (AD3)
 著者        Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, et al.
 タイトル      A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.
 雑誌        Nat Genet 2:340-2 (1992)
 DOI:10.1038/ng1292-340
 PMID:7651536 (AD4)
 著者        Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.
 タイトル      Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
 雑誌        Nature 376:775-8 (1995)
 DOI:10.1038/376775a0
 PMID:26141617 (AD9)
 著者        Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S, Mattheijssens M, Peeters K, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K
 タイトル      Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
 雑誌        Lancet Neurol 14:814-822 (2015)
 DOI:10.1016/S1474-4422(15)00133-7
 PMID:19608551 (AD18)
 著者        Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, Norton D, Tesco G, Elliott K, Wagner SL, Moir RD, Becker KD, Tanzi RE
 タイトル      Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.
 雑誌        Hum Mol Genet 18:3987-96 (2009)
 DOI:10.1093/hmg/ddp323","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00056"">H00056</a>","アルツハイマー病;
 アルツハイマー型認知症","Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2), and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specifically the more amyloidogenic form, Abeta42. It was proposed that Abeta forms Ca2+ permeable pores and binds to and modulates multiple synaptic proteins, including NMDAR, mGluR5, and VGCC, leading to the overfilling of neurons with calcium ions. Consequently, cellular Ca2+ disruptions will lead to neuronal apoptosis, autophagy deficits, mitochondrial abnormality, defective neurotransmission, impaired synaptic plasticity, and neurodegeneration in AD. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06412"">nt06412</a>  Unfolded protein response (UPR) signaling
 <a href=""https://www.kegg.jp/network/nt06414"">nt06414</a>  Apoptosis
 <a href=""https://www.kegg.jp/network/nt06417"">nt06417</a>  AGE-RAGE signaling
 <a href=""https://www.kegg.jp/network/nt06418"">nt06418</a>  Oxidative phosphorylation
 <a href=""https://www.kegg.jp/network/nt06419"">nt06419</a>  Microtubule-based transport
 <a href=""https://www.kegg.jp/network/nt06420"">nt06420</a>  Ubiquitin-proteasome system
 <a href=""https://www.kegg.jp/network/nt06460"">nt06460</a>  Alzheimer disease","(AD1) APP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:351"">351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04520"">K04520</a>]
 (AD2) APOE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348"">348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04524"">K04524</a>]
 (AD3) PSEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5663"">5663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04505"">K04505</a>]
 (AD4) PSEN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5664"">5664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04522"">K04522</a>]
 (AD9) ABCA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10347"">10347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05645"">K05645</a>]
 (AD18) ADAM10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:102"">102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06704"">K06704</a>]",,,,"ドネペジル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00670"">D00670</a>]
 リバスチグミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03822"">D03822</a>]
 ガランタミン臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02173"">D02173</a>]
 メマンチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04905"">D04905</a>]","Disease class: tauopathy
 Affected region: hippocampus, cerebral cortex
 Microscopic lesion: amyloid plaques, neurofibrillary tangles, Lewy bodies (seen in Lewy body variant)","ICD-11: 8A20
 ICD-10: G30
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000544"">D000544</a>
 OMIM: <a href=""https://www.omim.org/entry/104300"">104300</a> <a href=""https://www.omim.org/entry/104310"">104310</a> <a href=""https://www.omim.org/entry/607822"">607822</a> <a href=""https://www.omim.org/entry/606889"">606889</a> <a href=""https://www.omim.org/entry/608907"">608907</a> <a href=""https://www.omim.org/entry/615590"">615590</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19679070"">19679070</a> (AD2)
 著者        Kim J, Basak JM, Holtzman DM
 タイトル      The role of apolipoprotein E in Alzheimer's disease.
 雑誌        Neuron 63:287-303 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2009.06.026"">10.1016/j.neuron.2009.06.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19524503"">19524503</a>
 著者        Kim D, Tsai LH
 タイトル      Bridging physiology and pathology in AD.
 雑誌        Cell 137:997-1000 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2009.05.042"">10.1016/j.cell.2009.05.042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18802446"">18802446</a>
 著者        Bertram L, Tanzi RE
 タイトル      Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses.
 雑誌        Nat Rev Neurosci 9:768-78 (2008)
 DOI:<a href=""https://doi.org/10.1038/nrn2494"">10.1038/nrn2494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18414205"">18414205</a>
 著者        Bird TD
 タイトル      Genetic aspects of Alzheimer disease.
 雑誌        Genet Med 10:231-9 (2008)
 DOI:<a href=""https://doi.org/10.1097/GIM.0b013e31816b64dc"">10.1097/GIM.0b013e31816b64dc</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17158517"">17158517</a>
 著者        Thomas P, Fenech M
 タイトル      A review of genome mutation and Alzheimer's disease.
 雑誌        Mutagenesis 22:15-33 (2007)
 DOI:<a href=""https://doi.org/10.1093/mutage/gel055"">10.1093/mutage/gel055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17082447"">17082447</a>
 著者        Goedert M, Spillantini MG
 タイトル      A century of Alzheimer's disease.
 雑誌        Science 314:777-81 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1132814"">10.1126/science.1132814</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16631796"">16631796</a> (AD2)
 著者        Fazekas F, Enzinger C, Ropele S, Schmidt H, Schmidt R, Strasser-Fuchs S
 タイトル      The impact of our genes: consequences of the apolipoprotein E polymorphism in Alzheimer disease and multiple sclerosis.
 雑誌        J Neurol Sci 245:35-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2005.08.018"">10.1016/j.jns.2005.08.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12788204"">12788204</a>
 著者        Rocchi A, Pellegrini S, Siciliano G, Murri L.
 タイトル      Causative and susceptibility genes for Alzheimer's disease: a review.
 雑誌        Brain Res Bull 61:1-24 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0361-9230(03)00067-4"">10.1016/S0361-9230(03)00067-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1303291"">1303291</a> (AD3)
 著者        Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, et al.
 タイトル      A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.
 雑誌        Nat Genet 2:340-2 (1992)
 DOI:<a href=""https://doi.org/10.1038/ng1292-340"">10.1038/ng1292-340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7651536"">7651536</a> (AD4)
 著者        Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.
 タイトル      Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
 雑誌        Nature 376:775-8 (1995)
 DOI:<a href=""https://doi.org/10.1038/376775a0"">10.1038/376775a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26141617"">26141617</a> (AD9)
 著者        Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S, Mattheijssens M, Peeters K, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K
 タイトル      Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
 雑誌        Lancet Neurol 14:814-822 (2015)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(15)00133-7"">10.1016/S1474-4422(15)00133-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19608551"">19608551</a> (AD18)
 著者        Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, Norton D, Tesco G, Elliott K, Wagner SL, Moir RD, Becker KD, Tanzi RE
 タイトル      Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.
 雑誌        Hum Mol Genet 18:3987-96 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp323"">10.1093/hmg/ddp323</a>"
H00057,パーキンソン病,,,"Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental factors and mutations in familial PD-linked genes such as SNCA, Parkin, DJ-1, PINK1 and LRRK2 are associated with PD pathogenesis. These pathogenic mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key roles of DA neuronal function and survival. The demise of DA neurons located in the SNc leads to a drop in the dopaminergic input to the striatum, which is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively.",神経変性疾患,"nt06410  Calcium signaling
 nt06412  Unfolded protein response (UPR) signaling
 nt06414  Apoptosis
 nt06418  Oxidative phosphorylation
 nt06419  Microtubule-based transport
 nt06420  Ubiquitin-proteasome system
 nt06421  Mitophagy
 nt06422  Dopamine metabolism
 nt06440  Transcription
 nt06463  Parkinson disease","(PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
 (PARK2) PRKN [HSA:5071] [KO:K04556]
 (PARK5) UCHL1 [HSA:7345] [KO:K05611]
 (PARK6) PINK1 [HSA:65018] [KO:K05688]
 (PARK7) PARK7 [HSA:11315] [KO:K05687]
 (PARK8) LRRK2 [HSA:120892] [KO:K08844]
 (PARK9) ATP13A2 [HSA:23400] [KO:K13526]
 (PARK11) GIGYF2 [HSA:26058] [KO:K18730]
 (PARK13) HTRA2 [HSA:27429] [KO:K08669]
 (PARK14) PLA2G6 [HSA:8398] [KO:K16343]
 (PARK15) FBXO7 [HSA:25793] [KO:K10293]
 (PARK17) VPS35 [HSA:55737] [KO:K18468]
 (PARK18) EIF4G1 [HSA:1981] [KO:K03260]
 (PARK19) DNAJC6 [HSA:9829] [KO:K09526]
 (PARK22) CHCHD2 [HSA:51142] [KO:K22758]
 (PARK23) VPS13C [HSA:54832] [KO:K19525]
 (PARK24) PSAP [HSA:5660] [KO:K12382]
 NR4A2 [HSA:4929] [KO:K08558]
 MAPT [HSA:4137] [KO:K04380]",,"MPTP [CPD:C04599]
 Rotenone [CPD:C07593]
 Maneb [CPD:C15231]
 Paraquat [CPD:C14701]",,"ゾニサミド [DR:D00538]
 レボドパ [DR:D00059]
 ドロキシドパ [DR:D01277]
 カベルゴリン [DR:D00987]
 アポモルヒネ塩酸塩水和物 [DR:D02004]
 レボドパ・カルビドパ水和物 [DR:D00253]
 レボドパ・ベンセラジド塩酸塩 [DR:D02135]
 カルビドパ・レボドパ・エンタカポン [DR:D10293]
 ペルゴリドメシル酸塩 [DR:D00502]
 ロピニロール塩酸塩 [DR:D00784]
 プラミペキソール塩酸塩水和物 [DR:D00559]
 ロチゴチン [DR:D05768]
 セレギリン塩酸塩 [DR:D00785]
 ラサギリンメシル酸塩 [DR:D02562]
 サフィナミドメシル酸塩 [DR:D10191]
 エンタカポン [DR:D00781]
 オピカポン [DR:D10825]
 イストラデフィリン [DR:D04641]","Disease class: synucleinopathy
 Affected region: substantia nigra, putamen, caudate nucleus, hypothalamus
 Microscopic lesion: Lewy bodies","ICD-11: 8A00.0
 ICD-10: G20
 MeSH: D010300
 OMIM: 168600 168601 605543 600116 605909 606324 607060 606693 607688 610297 612953 260300 614203 614251 615528 616710 616840 619491","PMID:19419854
 著者        Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C
 タイトル      The genetics of Parkinson's syndromes: a critical review.
 雑誌        Curr Opin Genet Dev 19:254-65 (2009)
 DOI:10.1016/j.gde.2009.03.008
 PMID:17582365 (PARK2, PARK6, PARK8)
 著者        Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE
 タイトル      Deciphering the role of heterozygous mutations in genes associated with parkinsonism.
 雑誌        Lancet Neurol 6:652-62 (2007)
 DOI:10.1016/S1474-4422(07)70174-6
 PMID:17499497 (PARK2, PARK6, PARK7)
 著者        Dodson MW, Guo M
 タイトル      Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease.
 雑誌        Curr Opin Neurobiol 17:331-7 (2007)
 DOI:10.1016/j.conb.2007.04.010
 PMID:12953260 (PARK7)
 著者        Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW
 タイトル      The role of pathogenic DJ-1 mutations in Parkinson's disease.
 雑誌        Ann Neurol 54:283-6 (2003)
 DOI:10.1002/ana.10675
 PMID:19182805 (PARK9)
 著者        Gitler AD, Chesi A, Geddie ML, Strathearn KE, Hamamichi S, Hill KJ, Caldwell KA, Caldwell GA, Cooper AA, Rochet JC, Lindquist S
 タイトル      Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.
 雑誌        Nat Genet 41:308-15 (2009)
 DOI:10.1038/ng.300
 PMID:19297401 (PARK1-15)
 著者        Lesage S, Brice A
 タイトル      Parkinson's disease: from monogenic forms to genetic susceptibility factors.
 雑誌        Hum Mol Genet 18:R48-59 (2009)
 DOI:10.1093/hmg/ddp012
 PMID:27090875 (PARK17, PARK18, PARK19)
 著者        Hernandez DG, Reed X, Singleton AB
 タイトル      Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
 雑誌        J Neurochem 139 Suppl 1:59-74 (2016)
 DOI:10.1111/jnc.13593
 PMID:25662902 (PARK22)
 著者        Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N
 タイトル      CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
 雑誌        Lancet Neurol 14:274-82 (2015)
 DOI:10.1016/S1474-4422(14)70266-2
 PMID:26942284 (PARK23)
 著者        Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A
 タイトル      Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
 雑誌        Am J Hum Genet 98:500-13 (2016)
 DOI:10.1016/j.ajhg.2016.01.014
 PMID:32201884 (PARK24)
 著者        Oji Y, Hatano T, Ueno SI, Funayama M, Ishikawa KI, Okuzumi A, Noda S, Sato S, Satake W, Toda T, Li Y, Hino-Takai T, Kakuta S, Tsunemi T, Yoshino H, Nishioka K, Hattori T, Mizutani Y, Mutoh T, Yokochi F, Ichinose Y, Koh K, Shindo K, Takiyama Y, Hamaguchi T, Yamada M, Farrer MJ, Uchiyama Y, Akamatsu W, Wu YR, Matsuda J, Hattori N
 タイトル      Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
 雑誌        Brain 143:1190-1205 (2020)
 DOI:10.1093/brain/awaa064
 PMID:12496759 (NR4A2)
 著者        Le WD, Xu P, Jankovic J, Jiang H, Appel SH, Smith RG, Vassilatis DK
 タイトル      Mutations in NR4A2 associated with familial Parkinson disease.
 雑誌        Nat Genet 33:85-9 (2003)
 DOI:10.1038/ng1066
 PMID:11710889 (MAPT)
 著者        Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Ribble RC, Booze MW, Rogala A, Hauser MA, Zhang F, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Pericak-Vance MA, Vance JM
 タイトル      Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.
 雑誌        JAMA 286:2245-50 (2001)
 DOI:10.1001/jama.286.18.2245","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00057"">H00057</a>",パーキンソン病,"Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental factors and mutations in familial PD-linked genes such as SNCA, Parkin, DJ-1, PINK1 and LRRK2 are associated with PD pathogenesis. These pathogenic mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key roles of DA neuronal function and survival. The demise of DA neurons located in the SNc leads to a drop in the dopaminergic input to the striatum, which is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06412"">nt06412</a>  Unfolded protein response (UPR) signaling
 <a href=""https://www.kegg.jp/network/nt06414"">nt06414</a>  Apoptosis
 <a href=""https://www.kegg.jp/network/nt06418"">nt06418</a>  Oxidative phosphorylation
 <a href=""https://www.kegg.jp/network/nt06419"">nt06419</a>  Microtubule-based transport
 <a href=""https://www.kegg.jp/network/nt06420"">nt06420</a>  Ubiquitin-proteasome system
 <a href=""https://www.kegg.jp/network/nt06421"">nt06421</a>  Mitophagy
 <a href=""https://www.kegg.jp/network/nt06422"">nt06422</a>  Dopamine metabolism
 <a href=""https://www.kegg.jp/network/nt06440"">nt06440</a>  Transcription
 <a href=""https://www.kegg.jp/network/nt06463"">nt06463</a>  Parkinson disease","(PARK1/PARK4) SNCA (duplication, triplication) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6622"">6622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04528"">K04528</a>]
 (PARK2) PRKN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5071"">5071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04556"">K04556</a>]
 (PARK5) UCHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7345"">7345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05611"">K05611</a>]
 (PARK6) PINK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65018"">65018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05688"">K05688</a>]
 (PARK7) PARK7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11315"">11315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05687"">K05687</a>]
 (PARK8) LRRK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120892"">120892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08844"">K08844</a>]
 (PARK9) ATP13A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23400"">23400</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13526"">K13526</a>]
 (PARK11) GIGYF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26058"">26058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18730"">K18730</a>]
 (PARK13) HTRA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27429"">27429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08669"">K08669</a>]
 (PARK14) PLA2G6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8398"">8398</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16343"">K16343</a>]
 (PARK15) FBXO7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25793"">25793</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10293"">K10293</a>]
 (PARK17) VPS35 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55737"">55737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18468"">K18468</a>]
 (PARK18) EIF4G1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1981"">1981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03260"">K03260</a>]
 (PARK19) DNAJC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9829"">9829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09526"">K09526</a>]
 (PARK22) CHCHD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51142"">51142</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22758"">K22758</a>]
 (PARK23) VPS13C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54832"">54832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19525"">K19525</a>]
 (PARK24) PSAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]
 NR4A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4929"">4929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08558"">K08558</a>]
 MAPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4137"">4137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04380"">K04380</a>]",,"MPTP [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C04599"">C04599</a>]
 Rotenone [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07593"">C07593</a>]
 Maneb [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C15231"">C15231</a>]
 Paraquat [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C14701"">C14701</a>]",,"ゾニサミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00538"">D00538</a>]
 レボドパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00059"">D00059</a>]
 ドロキシドパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01277"">D01277</a>]
 カベルゴリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00987"">D00987</a>]
 アポモルヒネ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02004"">D02004</a>]
 レボドパ・カルビドパ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00253"">D00253</a>]
 レボドパ・ベンセラジド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02135"">D02135</a>]
 カルビドパ・レボドパ・エンタカポン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10293"">D10293</a>]
 ペルゴリドメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00502"">D00502</a>]
 ロピニロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00784"">D00784</a>]
 プラミペキソール塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00559"">D00559</a>]
 ロチゴチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05768"">D05768</a>]
 セレギリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00785"">D00785</a>]
 ラサギリンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02562"">D02562</a>]
 サフィナミドメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10191"">D10191</a>]
 エンタカポン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00781"">D00781</a>]
 オピカポン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10825"">D10825</a>]
 イストラデフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04641"">D04641</a>]","Disease class: synucleinopathy
 Affected region: substantia nigra, putamen, caudate nucleus, hypothalamus
 Microscopic lesion: Lewy bodies","ICD-11: 8A00.0
 ICD-10: G20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010300"">D010300</a>
 OMIM: <a href=""https://www.omim.org/entry/168600"">168600</a> <a href=""https://www.omim.org/entry/168601"">168601</a> <a href=""https://www.omim.org/entry/605543"">605543</a> <a href=""https://www.omim.org/entry/600116"">600116</a> <a href=""https://www.omim.org/entry/605909"">605909</a> <a href=""https://www.omim.org/entry/606324"">606324</a> <a href=""https://www.omim.org/entry/607060"">607060</a> <a href=""https://www.omim.org/entry/606693"">606693</a> <a href=""https://www.omim.org/entry/607688"">607688</a> <a href=""https://www.omim.org/entry/610297"">610297</a> <a href=""https://www.omim.org/entry/612953"">612953</a> <a href=""https://www.omim.org/entry/260300"">260300</a> <a href=""https://www.omim.org/entry/614203"">614203</a> <a href=""https://www.omim.org/entry/614251"">614251</a> <a href=""https://www.omim.org/entry/615528"">615528</a> <a href=""https://www.omim.org/entry/616710"">616710</a> <a href=""https://www.omim.org/entry/616840"">616840</a> <a href=""https://www.omim.org/entry/619491"">619491</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19419854"">19419854</a>
 著者        Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C
 タイトル      The genetics of Parkinson's syndromes: a critical review.
 雑誌        Curr Opin Genet Dev 19:254-65 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.gde.2009.03.008"">10.1016/j.gde.2009.03.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17582365"">17582365</a> (PARK2, <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK6,"">PARK6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK8)"">PARK8)</a>
 著者        Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE
 タイトル      Deciphering the role of heterozygous mutations in genes associated with parkinsonism.
 雑誌        Lancet Neurol 6:652-62 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(07)70174-6"">10.1016/S1474-4422(07)70174-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17499497"">17499497</a> (PARK2, <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK6,"">PARK6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK7)"">PARK7)</a>
 著者        Dodson MW, Guo M
 タイトル      Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease.
 雑誌        Curr Opin Neurobiol 17:331-7 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.conb.2007.04.010"">10.1016/j.conb.2007.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12953260"">12953260</a> (PARK7)
 著者        Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW
 タイトル      The role of pathogenic DJ-1 mutations in Parkinson's disease.
 雑誌        Ann Neurol 54:283-6 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10675"">10.1002/ana.10675</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19182805"">19182805</a> (PARK9)
 著者        Gitler AD, Chesi A, Geddie ML, Strathearn KE, Hamamichi S, Hill KJ, Caldwell KA, Caldwell GA, Cooper AA, Rochet JC, Lindquist S
 タイトル      Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.
 雑誌        Nat Genet 41:308-15 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.300"">10.1038/ng.300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19297401"">19297401</a> (PARK1-15)
 著者        Lesage S, Brice A
 タイトル      Parkinson's disease: from monogenic forms to genetic susceptibility factors.
 雑誌        Hum Mol Genet 18:R48-59 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp012"">10.1093/hmg/ddp012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27090875"">27090875</a> (PARK17, <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK18,"">PARK18,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PARK19)"">PARK19)</a>
 著者        Hernandez DG, Reed X, Singleton AB
 タイトル      Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
 雑誌        J Neurochem 139 Suppl 1:59-74 (2016)
 DOI:<a href=""https://doi.org/10.1111/jnc.13593"">10.1111/jnc.13593</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25662902"">25662902</a> (PARK22)
 著者        Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N
 タイトル      CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
 雑誌        Lancet Neurol 14:274-82 (2015)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(14)70266-2"">10.1016/S1474-4422(14)70266-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26942284"">26942284</a> (PARK23)
 著者        Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A
 タイトル      Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
 雑誌        Am J Hum Genet 98:500-13 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.01.014"">10.1016/j.ajhg.2016.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32201884"">32201884</a> (PARK24)
 著者        Oji Y, Hatano T, Ueno SI, Funayama M, Ishikawa KI, Okuzumi A, Noda S, Sato S, Satake W, Toda T, Li Y, Hino-Takai T, Kakuta S, Tsunemi T, Yoshino H, Nishioka K, Hattori T, Mizutani Y, Mutoh T, Yokochi F, Ichinose Y, Koh K, Shindo K, Takiyama Y, Hamaguchi T, Yamada M, Farrer MJ, Uchiyama Y, Akamatsu W, Wu YR, Matsuda J, Hattori N
 タイトル      Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
 雑誌        Brain 143:1190-1205 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa064"">10.1093/brain/awaa064</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12496759"">12496759</a> (NR4A2)
 著者        Le WD, Xu P, Jankovic J, Jiang H, Appel SH, Smith RG, Vassilatis DK
 タイトル      Mutations in NR4A2 associated with familial Parkinson disease.
 雑誌        Nat Genet 33:85-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1066"">10.1038/ng1066</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11710889"">11710889</a> (MAPT)
 著者        Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Masterman D, Mastaglia F, Laing NG, Stajich JM, Ribble RC, Booze MW, Rogala A, Hauser MA, Zhang F, Gibson RA, Middleton LT, Roses AD, Haines JL, Scott BL, Pericak-Vance MA, Vance JM
 タイトル      Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.
 雑誌        JAMA 286:2245-50 (2001)
 DOI:<a href=""https://doi.org/10.1001/jama.286.18.2245"">10.1001/jama.286.18.2245</a>"
H00058,"筋萎縮性側索硬化症 (ALS)
 下位グループ    前頭側頭型認知症および筋萎縮性側索硬化症 [DS:H02342]
 筋萎縮性側索硬化症パーキンソン認知症複合 (ALSPDC)",,,"Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease mechanisms contributing to motor neuron degeneration in ALS are: impaired proteostasis, aberrant RNA processing, mitochondrial disfunction and oxidative stress, microglia activation, and axonal dysfunction.",神経変性疾患,"nt06410  Calcium signaling
 nt06412  Unfolded protein response (UPR) signaling
 nt06413  Autophagy
 nt06414  Apoptosis
 nt06415  PI3K signaling
 nt06418  Oxidative phosphorylation
 nt06419  Microtubule-based transport
 nt06420  Ubiquitin-proteasome system
 nt06421  Mitophagy
 nt06423  Cytoskeletal regulation
 nt06424  RNA processing
 nt06464  Amyotrophic lateral sclerosis","(ALS1) SOD1 [HSA:6647] [KO:K04565]
 (ALS1) NEFH [HSA:4744] [KO:K04574]
 (ALS1) PRPH [HSA:5630] [KO:K07607]
 (ALS1) DCTN1 [HSA:1639] [KO:K04648]
 (ALS2) ALS2 [HSA:57679] [KO:K04575]
 (ALS4) SETX [HSA:23064] [KO:K10706]
 (ALS5) SPG11 [HSA:80208] [KO:K19026]
 (ALS6) FUS [HSA:2521] [KO:K13098]
 (ALS8) VAPB [HSA:9217] [KO:K10707]
 (ALS9) ANG [HSA:283] [KO:K16631]
 (ALS10) TARDBP [HSA:23435] [KO:K23600]
 (ALS11) FIG4 [HSA:9896] [KO:K22913]
 (ALS12) OPTN [HSA:10133] [KO:K19946]
 (ALS15) UBQLN2 [HSA:29978] [KO:K04523]
 (ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
 (ALS18) PFN1 [HSA:5216] [KO:K05759]
 (ALS19) ERBB4 [HSA:2066] [KO:K05085]
 (ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
 (ALS21) MATR3 [HSA:9782] [KO:K13213]
 (ALS22) TUBA4A [HSA:7277] [KO:K07374]
 (ALS23) ANXA11 [HSA:311] [KO:K17095]
 (ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
 (ALSPDC) MAPT [HSA:4137] [KO:K04380]",,,,"リルゾール [DR:D00775]
 エダラボン [DR:D01552]
 ダントロレンナトリウム水和物 [DR:D02274]
 バクロフェン [DR:D00241]
 チザニジン塩酸塩 [DR:D00776]
 エペリゾン塩酸塩 [DR:D01671]
 アフロクアロン [DR:D01638]","Affected region: motor cortex, brain stem, spinal cord
 Microscopic lesion: hyaline inclusions","ICD-11: 8B60.0
 ICD-10: G12.2
 MeSH: D000690
 OMIM: 105400 205100 602433 602099 608030 608627 611895 612069 612577 613435 300857 614373 614808 615515 615426 606070 617839 616208 617839 105500","PMID:28980624
 著者        Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z, van den Berg LH
 タイトル      Amyotrophic lateral sclerosis.
 雑誌        Nat Rev Dis Primers 3:17071 (2017)
 DOI:10.1038/nrdp.2017.71
 PMID:26213621
 著者        Yamashita S, Ando Y
 タイトル      Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
 雑誌        Transl Neurodegener 4:13 (2015)
 DOI:10.1186/s40035-015-0036-y
 PMID:15952898 (ALS1)
 著者        Valentine JS, Doucette PA, Zittin Potter S
 タイトル      Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis.
 雑誌        Annu Rev Biochem 74:563-93 (2005)
 DOI:10.1146/annurev.biochem.72.121801.161647
 PMID:15106121 (ALS4)
 著者        Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF
 タイトル      DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
 雑誌        Am J Hum Genet 74:1128-35 (2004)
 DOI:10.1086/421054
 PMID:19251628 (ALS6)
 著者        Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE
 タイトル      Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
 雑誌        Science 323:1208-11 (2009)
 DOI:10.1126/science.1165942
 PMID:16501576 (ALS9)
 著者        Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O
 タイトル      ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
 雑誌        Nat Genet 38:411-3 (2006)
 DOI:10.1038/ng1742
 PMID:18802454 (ALS10)
 著者        Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R
 タイトル      Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
 雑誌        PLoS Genet 4:e1000193 (2008)
 DOI:10.1371/journal.pgen.1000193
 PMID:19118816 (ALS11)
 著者        Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH
 タイトル      Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
 雑誌        Am J Hum Genet 84:85-8 (2009)
 DOI:10.1016/j.ajhg.2008.12.010
 PMID:20428114 (ALS12)
 著者        Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H
 タイトル      Mutations of optineurin in amyotrophic lateral sclerosis.
 雑誌        Nature 465:223-6 (2010)
 DOI:10.1038/nature08971
 PMID:30870681 (ALS1-ALS23)
 著者        Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL
 タイトル      Genetics of amyotrophic lateral sclerosis: A review.
 雑誌        J Neurol Sci 399:217-226 (2019)
 DOI:10.1016/j.jns.2019.02.030
 PMID:16051700 (ALSPDC)
 著者        Hermosura MC, Nayakanti H, Dorovkov MV, Calderon FR, Ryazanov AG, Haymer DS, Garruto RM
 タイトル      A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders.
 雑誌        Proc Natl Acad Sci U S A 102:11510-5 (2005)
 DOI:10.1073/pnas.0505149102
 PMID:17185385 (ALSPDC)
 著者        Sundar PD, Yu CE, Sieh W, Steinbart E, Garruto RM, Oyanagi K, Craig UK, Bird TD, Wijsman EM, Galasko DR, Schellenberg GD
 タイトル      Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
 雑誌        Hum Mol Genet 16:295-306 (2007)
 DOI:10.1093/hmg/ddl463
 PMID:29403345 (ALSPDC)
 著者        Hata Y, Ma N, Yoneda M, Morimoto S, Okano H, Murayama S, Kawanishi S, Kuzuhara S, Kokubo Y
 タイトル      Nitrative Stress and Tau Accumulation in Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC) in the Kii Peninsula, Japan.
 雑誌        Front Neurosci 11:751 (2017)
 DOI:10.3389/fnins.2017.00751","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00058"">H00058</a>","筋萎縮性側索硬化症 (ALS)
 下位グループ    前頭側頭型認知症および筋萎縮性側索硬化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02342"">H02342</a>]
 筋萎縮性側索硬化症パーキンソン認知症複合 (ALSPDC)","Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease mechanisms contributing to motor neuron degeneration in ALS are: impaired proteostasis, aberrant RNA processing, mitochondrial disfunction and oxidative stress, microglia activation, and axonal dysfunction.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06412"">nt06412</a>  Unfolded protein response (UPR) signaling
 <a href=""https://www.kegg.jp/network/nt06413"">nt06413</a>  Autophagy
 <a href=""https://www.kegg.jp/network/nt06414"">nt06414</a>  Apoptosis
 <a href=""https://www.kegg.jp/network/nt06415"">nt06415</a>  PI3K signaling
 <a href=""https://www.kegg.jp/network/nt06418"">nt06418</a>  Oxidative phosphorylation
 <a href=""https://www.kegg.jp/network/nt06419"">nt06419</a>  Microtubule-based transport
 <a href=""https://www.kegg.jp/network/nt06420"">nt06420</a>  Ubiquitin-proteasome system
 <a href=""https://www.kegg.jp/network/nt06421"">nt06421</a>  Mitophagy
 <a href=""https://www.kegg.jp/network/nt06423"">nt06423</a>  Cytoskeletal regulation
 <a href=""https://www.kegg.jp/network/nt06424"">nt06424</a>  RNA processing
 <a href=""https://www.kegg.jp/network/nt06464"">nt06464</a>  Amyotrophic lateral sclerosis","(ALS1) SOD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6647"">6647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04565"">K04565</a>]
 (ALS1) NEFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4744"">4744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04574"">K04574</a>]
 (ALS1) PRPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5630"">5630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07607"">K07607</a>]
 (ALS1) DCTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1639"">1639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04648"">K04648</a>]
 (ALS2) ALS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57679"">57679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04575"">K04575</a>]
 (ALS4) SETX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23064"">23064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10706"">K10706</a>]
 (ALS5) SPG11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80208"">80208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19026"">K19026</a>]
 (ALS6) FUS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2521"">2521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13098"">K13098</a>]
 (ALS8) VAPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9217"">9217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10707"">K10707</a>]
 (ALS9) ANG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283"">283</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16631"">K16631</a>]
 (ALS10) TARDBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23435"">23435</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23600"">K23600</a>]
 (ALS11) FIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9896"">9896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22913"">K22913</a>]
 (ALS12) OPTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10133"">10133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19946"">K19946</a>]
 (ALS15) UBQLN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29978"">29978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04523"">K04523</a>]
 (ALS16) SIGMAR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10280"">10280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20719"">K20719</a>]
 (ALS18) PFN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5216"">5216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05759"">K05759</a>]
 (ALS19) ERBB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2066"">2066</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05085"">K05085</a>]
 (ALS20) HNRNPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3178"">3178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12741"">K12741</a>]
 (ALS21) MATR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9782"">9782</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13213"">K13213</a>]
 (ALS22) TUBA4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7277"">7277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07374"">K07374</a>]
 (ALS23) ANXA11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:311"">311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17095"">K17095</a>]
 (ALSPDC) TRPM7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54822"">54822</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04982"">K04982</a>]
 (ALSPDC) MAPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4137"">4137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04380"">K04380</a>]",,,,"リルゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00775"">D00775</a>]
 エダラボン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01552"">D01552</a>]
 ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]
 バクロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00241"">D00241</a>]
 チザニジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00776"">D00776</a>]
 エペリゾン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01671"">D01671</a>]
 アフロクアロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01638"">D01638</a>]","Affected region: motor cortex, brain stem, spinal cord
 Microscopic lesion: hyaline inclusions","ICD-11: 8B60.0
 ICD-10: G12.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000690"">D000690</a>
 OMIM: <a href=""https://www.omim.org/entry/105400"">105400</a> <a href=""https://www.omim.org/entry/205100"">205100</a> <a href=""https://www.omim.org/entry/602433"">602433</a> <a href=""https://www.omim.org/entry/602099"">602099</a> <a href=""https://www.omim.org/entry/608030"">608030</a> <a href=""https://www.omim.org/entry/608627"">608627</a> <a href=""https://www.omim.org/entry/611895"">611895</a> <a href=""https://www.omim.org/entry/612069"">612069</a> <a href=""https://www.omim.org/entry/612577"">612577</a> <a href=""https://www.omim.org/entry/613435"">613435</a> <a href=""https://www.omim.org/entry/300857"">300857</a> <a href=""https://www.omim.org/entry/614373"">614373</a> <a href=""https://www.omim.org/entry/614808"">614808</a> <a href=""https://www.omim.org/entry/615515"">615515</a> <a href=""https://www.omim.org/entry/615426"">615426</a> <a href=""https://www.omim.org/entry/606070"">606070</a> <a href=""https://www.omim.org/entry/617839"">617839</a> <a href=""https://www.omim.org/entry/616208"">616208</a> <a href=""https://www.omim.org/entry/617839"">617839</a> <a href=""https://www.omim.org/entry/105500"">105500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28980624"">28980624</a>
 著者        Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z, van den Berg LH
 タイトル      Amyotrophic lateral sclerosis.
 雑誌        Nat Rev Dis Primers 3:17071 (2017)
 DOI:<a href=""https://doi.org/10.1038/nrdp.2017.71"">10.1038/nrdp.2017.71</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26213621"">26213621</a>
 著者        Yamashita S, Ando Y
 タイトル      Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
 雑誌        Transl Neurodegener 4:13 (2015)
 DOI:<a href=""https://doi.org/10.1186/s40035-015-0036-y"">10.1186/s40035-015-0036-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15952898"">15952898</a> (ALS1)
 著者        Valentine JS, Doucette PA, Zittin Potter S
 タイトル      Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis.
 雑誌        Annu Rev Biochem 74:563-93 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.biochem.72.121801.161647"">10.1146/annurev.biochem.72.121801.161647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15106121"">15106121</a> (ALS4)
 著者        Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF
 タイトル      DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
 雑誌        Am J Hum Genet 74:1128-35 (2004)
 DOI:<a href=""https://doi.org/10.1086/421054"">10.1086/421054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19251628"">19251628</a> (ALS6)
 著者        Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE
 タイトル      Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
 雑誌        Science 323:1208-11 (2009)
 DOI:<a href=""https://doi.org/10.1126/science.1165942"">10.1126/science.1165942</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16501576"">16501576</a> (ALS9)
 著者        Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O
 タイトル      ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
 雑誌        Nat Genet 38:411-3 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1742"">10.1038/ng1742</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18802454"">18802454</a> (ALS10)
 著者        Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R
 タイトル      Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
 雑誌        PLoS Genet 4:e1000193 (2008)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1000193"">10.1371/journal.pgen.1000193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19118816"">19118816</a> (ALS11)
 著者        Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH
 タイトル      Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
 雑誌        Am J Hum Genet 84:85-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.010"">10.1016/j.ajhg.2008.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20428114"">20428114</a> (ALS12)
 著者        Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H
 タイトル      Mutations of optineurin in amyotrophic lateral sclerosis.
 雑誌        Nature 465:223-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/nature08971"">10.1038/nature08971</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30870681"">30870681</a> (ALS1-ALS23)
 著者        Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL
 タイトル      Genetics of amyotrophic lateral sclerosis: A review.
 雑誌        J Neurol Sci 399:217-226 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2019.02.030"">10.1016/j.jns.2019.02.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16051700"">16051700</a> (ALSPDC)
 著者        Hermosura MC, Nayakanti H, Dorovkov MV, Calderon FR, Ryazanov AG, Haymer DS, Garruto RM
 タイトル      A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders.
 雑誌        Proc Natl Acad Sci U S A 102:11510-5 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0505149102"">10.1073/pnas.0505149102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17185385"">17185385</a> (ALSPDC)
 著者        Sundar PD, Yu CE, Sieh W, Steinbart E, Garruto RM, Oyanagi K, Craig UK, Bird TD, Wijsman EM, Galasko DR, Schellenberg GD
 タイトル      Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
 雑誌        Hum Mol Genet 16:295-306 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl463"">10.1093/hmg/ddl463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29403345"">29403345</a> (ALSPDC)
 著者        Hata Y, Ma N, Yoneda M, Morimoto S, Okano H, Murayama S, Kawanishi S, Kuzuhara S, Kokubo Y
 タイトル      Nitrative Stress and Tau Accumulation in Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC) in the Kii Peninsula, Japan.
 雑誌        Front Neurosci 11:751 (2017)
 DOI:<a href=""https://doi.org/10.3389/fnins.2017.00751"">10.3389/fnins.2017.00751</a>"
H00059,ハンチントン病,,,"Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine (polyQ) close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. Full-length Htt is cleaved by proteases in the cytoplasm, leading to the formation of cytoplasmic and neuritic aggregates. mHtt also alters vesicular transport and recycling, causes cytosolic and mitochondrial Ca2+  overload, triggers endoplasmic reticulum stress through proteasomal dysfunction, and impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ stretch translocate to the nucleus where they impair transcription and induce neuronal death.",神経変性疾患,"nt06410  Calcium signaling
 nt06413  Autophagy
 nt06414  Apoptosis
 nt06416  TNF signaling
 nt06418  Oxidative phosphorylation
 nt06419  Microtubule-based transport
 nt06420  Ubiquitin-proteasome system
 nt06440  Transcription
 nt06461  Huntington disease",HTT; huntingtin (CAG repeat expansion) [HSA:3064] [KO:K04533],,,,テトラベナジン [DR:D08575],"Disease class: polyglutamine disease
 Affected region: caudate nucleus, globus pallidus, thalamus, hippocampus
 Microscopic lesion: neuronal intranuclear inclusions","ICD-11: 8A01.10
 ICD-10: G10
 MeSH: D006816
 OMIM: 143100","PMID:18466116
 著者        Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC
 タイトル      Huntington's disease: from pathology and genetics to potential therapies.
 雑誌        Biochem J 412:191-209 (2008)
 DOI:10.1042/BJ20071619
 PMID:17217424
 著者        Spires TL, Hannan AJ
 タイトル      Molecular mechanisms mediating pathological plasticity in Huntington's disease and Alzheimer's disease.
 雑誌        J Neurochem 100:874-82 (2007)
 DOI:10.1111/j.1471-4159.2006.04275.x
 PMID:16829072
 著者        Gusella JF, Macdonald ME
 タイトル      Huntington's disease: seeing the pathogenic process through a genetic lens.
 雑誌        Trends Biochem Sci 31:533-40 (2006)
 DOI:10.1016/j.tibs.2006.06.009
 PMID:15480847
 著者        Gardian G, Vecsei L.
 タイトル      Huntington's disease: pathomechanism and therapeutic perspectives.
 雑誌        J Neural Transm 111:1485-94 (2004)
 DOI:10.1007/s00702-004-0201-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00059"">H00059</a>",ハンチントン病,"Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine (polyQ) close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. Full-length Htt is cleaved by proteases in the cytoplasm, leading to the formation of cytoplasmic and neuritic aggregates. mHtt also alters vesicular transport and recycling, causes cytosolic and mitochondrial Ca2+  overload, triggers endoplasmic reticulum stress through proteasomal dysfunction, and impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ stretch translocate to the nucleus where they impair transcription and induce neuronal death.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06413"">nt06413</a>  Autophagy
 <a href=""https://www.kegg.jp/network/nt06414"">nt06414</a>  Apoptosis
 <a href=""https://www.kegg.jp/network/nt06416"">nt06416</a>  TNF signaling
 <a href=""https://www.kegg.jp/network/nt06418"">nt06418</a>  Oxidative phosphorylation
 <a href=""https://www.kegg.jp/network/nt06419"">nt06419</a>  Microtubule-based transport
 <a href=""https://www.kegg.jp/network/nt06420"">nt06420</a>  Ubiquitin-proteasome system
 <a href=""https://www.kegg.jp/network/nt06440"">nt06440</a>  Transcription
 <a href=""https://www.kegg.jp/network/nt06461"">nt06461</a>  Huntington disease","HTT; huntingtin (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3064"">3064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04533"">K04533</a>]",,,,"テトラベナジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08575"">D08575</a>]","Disease class: polyglutamine disease
 Affected region: caudate nucleus, globus pallidus, thalamus, hippocampus
 Microscopic lesion: neuronal intranuclear inclusions","ICD-11: 8A01.10
 ICD-10: G10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006816"">D006816</a>
 OMIM: <a href=""https://www.omim.org/entry/143100"">143100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18466116"">18466116</a>
 著者        Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC
 タイトル      Huntington's disease: from pathology and genetics to potential therapies.
 雑誌        Biochem J 412:191-209 (2008)
 DOI:<a href=""https://doi.org/10.1042/BJ20071619"">10.1042/BJ20071619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17217424"">17217424</a>
 著者        Spires TL, Hannan AJ
 タイトル      Molecular mechanisms mediating pathological plasticity in Huntington's disease and Alzheimer's disease.
 雑誌        J Neurochem 100:874-82 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1471-4159.2006.04275.x"">10.1111/j.1471-4159.2006.04275.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16829072"">16829072</a>
 著者        Gusella JF, Macdonald ME
 タイトル      Huntington's disease: seeing the pathogenic process through a genetic lens.
 雑誌        Trends Biochem Sci 31:533-40 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.tibs.2006.06.009"">10.1016/j.tibs.2006.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15480847"">15480847</a>
 著者        Gardian G, Vecsei L.
 タイトル      Huntington's disease: pathomechanism and therapeutic perspectives.
 雑誌        J Neural Transm 111:1485-94 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00702-004-0201-4"">10.1007/s00702-004-0201-4</a>"
H00060,"歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA)
 上位グループ    進行性ミオクローヌスてんかん [DS:H00810]
 脊髄小脳変性症 [DS:H01616]",,,"Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia in patients with a later onset (> 40 years).",神経変性疾患,,ATN1; atrophin 1 (CAG repeat expansion) [HSA:1822] [KO:K05626],,,,,"Disease class: polyglutamine disease
 Affected region: cerebellum, cerebral cortex, basal ganglia, Luys body
 Microscopic lesion: neuronal and glial intranuclear inclusions","ICD-11: 8A01.12
 ICD-10: G11.2
 OMIM: 125370","PMID:18473821
 著者        Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G
 タイトル      Molecular genetics and biomarkers of polyglutamine diseases.
 雑誌        Curr Mol Med 8:221-34 (2008)
 DOI:10.2174/156652408784221298
 PMID:14585172
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:10.1017/S1462399403006598
 PMID:12464607
 著者        Nucifora FC Jr, Ellerby LM, Wellington CL, Wood JD, Herring WJ, Sawa A, Hayden MR, Dawson VL, Dawson TM, Ross CA
 タイトル      Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity.
 雑誌        J Biol Chem 278:13047-55 (2003)
 DOI:10.1074/jbc.M211224200
 PMID:10677044
 著者        Schilling G, Wood JD, Duan K, Slunt HH, Gonzales V, Yamada M, Cooper JK, Margolis RL, Jenkins NA, Copeland NG, Takahashi H, Tsuji S, Price DL, Borchelt DR, Ross CA
 タイトル      Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.
 雑誌        Neuron 24:275-86 (1999)
 DOI:10.1016/S0896-6273(00)80839-9
 PMID:10434307
 著者        Kanazawa I
 タイトル      Molecular pathology of dentatorubral-pallidoluysian atrophy.
 雑誌        Philos Trans R Soc Lond B Biol Sci 354:1069-74 (1999)
 DOI:10.1098/rstb.1999.0460
 PMID:10434299
 著者        Ross CA, Wood JD, Schilling G, Peters MF, Nucifora FC Jr, Cooper JK, Sharp AH, Margolis RL, Borchelt DR
 タイトル      Polyglutamine pathogenesis.
 雑誌        Philos Trans R Soc Lond B Biol Sci 354:1005-11 (1999)
 DOI:10.1098/rstb.1999.0452
 PMID:9933295
 著者        Kanazawa I
 タイトル      Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.
 雑誌        Neurogenetics 2:1-17 (1998)
 DOI:10.1007/s100480050046","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00060"">H00060</a>","歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA)
 上位グループ    進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia in patients with a later onset (> 40 years).",,"ATN1; atrophin 1 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1822"">1822</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05626"">K05626</a>]",,,,,"Disease class: polyglutamine disease
 Affected region: cerebellum, cerebral cortex, basal ganglia, Luys body
 Microscopic lesion: neuronal and glial intranuclear inclusions","ICD-11: 8A01.12
 ICD-10: G11.2
 OMIM: <a href=""https://www.omim.org/entry/125370"">125370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18473821"">18473821</a>
 著者        Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G
 タイトル      Molecular genetics and biomarkers of polyglutamine diseases.
 雑誌        Curr Mol Med 8:221-34 (2008)
 DOI:<a href=""https://doi.org/10.2174/156652408784221298"">10.2174/156652408784221298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14585172"">14585172</a>
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:<a href=""https://doi.org/10.1017/S1462399403006598"">10.1017/S1462399403006598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464607"">12464607</a>
 著者        Nucifora FC Jr, Ellerby LM, Wellington CL, Wood JD, Herring WJ, Sawa A, Hayden MR, Dawson VL, Dawson TM, Ross CA
 タイトル      Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity.
 雑誌        J Biol Chem 278:13047-55 (2003)
 DOI:<a href=""https://doi.org/10.1074/jbc.M211224200"">10.1074/jbc.M211224200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10677044"">10677044</a>
 著者        Schilling G, Wood JD, Duan K, Slunt HH, Gonzales V, Yamada M, Cooper JK, Margolis RL, Jenkins NA, Copeland NG, Takahashi H, Tsuji S, Price DL, Borchelt DR, Ross CA
 タイトル      Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.
 雑誌        Neuron 24:275-86 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0896-6273(00)80839-9"">10.1016/S0896-6273(00)80839-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10434307"">10434307</a>
 著者        Kanazawa I
 タイトル      Molecular pathology of dentatorubral-pallidoluysian atrophy.
 雑誌        Philos Trans R Soc Lond B Biol Sci 354:1069-74 (1999)
 DOI:<a href=""https://doi.org/10.1098/rstb.1999.0460"">10.1098/rstb.1999.0460</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10434299"">10434299</a>
 著者        Ross CA, Wood JD, Schilling G, Peters MF, Nucifora FC Jr, Cooper JK, Sharp AH, Margolis RL, Borchelt DR
 タイトル      Polyglutamine pathogenesis.
 雑誌        Philos Trans R Soc Lond B Biol Sci 354:1005-11 (1999)
 DOI:<a href=""https://doi.org/10.1098/rstb.1999.0452"">10.1098/rstb.1999.0452</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9933295"">9933295</a>
 著者        Kanazawa I
 タイトル      Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.
 雑誌        Neurogenetics 2:1-17 (1998)
 DOI:<a href=""https://doi.org/10.1007/s100480050046"">10.1007/s100480050046</a>"
H00061,プリオン病,,,"Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC.",神経変性疾患,"nt06410  Calcium signaling
 nt06412  Unfolded protein response (UPR) signaling
 nt06415  PI3K signaling
 nt06419  Microtubule-based transport
 nt06420  Ubiquitin-proteasome system
 nt06465  Prion disease",PRNP (mutation) [HSA:5621] [KO:K05634],,,,,"Affected region: cerebral cortex, thalamus, brain stem, cerebellum, etc.
 Microscopic lesion: prion plaques","ICD-11: 8E00 8E01 8E02 8E03 8E0Y
 ICD-10: A81.0
 MeSH: D017096
 OMIM: 123400 137440 600072 606688","PMID:14744440
 著者        Aguzzi A, Polymenidou M.
 タイトル      Mammalian prion biology: one century of evolving concepts.
 雑誌        Cell 116:313-27 (2004)
 DOI:10.1016/S0092-8674(03)01031-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00061"">H00061</a>",プリオン病,"Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06412"">nt06412</a>  Unfolded protein response (UPR) signaling
 <a href=""https://www.kegg.jp/network/nt06415"">nt06415</a>  PI3K signaling
 <a href=""https://www.kegg.jp/network/nt06419"">nt06419</a>  Microtubule-based transport
 <a href=""https://www.kegg.jp/network/nt06420"">nt06420</a>  Ubiquitin-proteasome system
 <a href=""https://www.kegg.jp/network/nt06465"">nt06465</a>  Prion disease","PRNP (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5621"">5621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05634"">K05634</a>]",,,,,"Affected region: cerebral cortex, thalamus, brain stem, cerebellum, etc.
 Microscopic lesion: prion plaques","ICD-11: 8E00 8E01 8E02 8E03 8E0Y
 ICD-10: A81.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017096"">D017096</a>
 OMIM: <a href=""https://www.omim.org/entry/123400"">123400</a> <a href=""https://www.omim.org/entry/137440"">137440</a> <a href=""https://www.omim.org/entry/600072"">600072</a> <a href=""https://www.omim.org/entry/606688"">606688</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14744440"">14744440</a>
 著者        Aguzzi A, Polymenidou M.
 タイトル      Mammalian prion biology: one century of evolving concepts.
 雑誌        Cell 116:313-27 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(03)01031-6"">10.1016/S0092-8674(03)01031-6</a>"
H00062,"球脊髄性筋萎縮症 (SBMA);
 ケネディ病",,,"Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death.",神経変性疾患,,AR; androgen receptor (CAG repeat expansion) [HSA:367] [KO:K08557],,,,リュープロレリン酢酸塩 [DR:D00989],"Disease class: polyglutamine disease
 Affected region: anterior horn, bulbar region (cerebellum, medulla oblongata, pons), dorsal root ganglia
 Microscopic lesion: neuronal and cytoplasmic inclusions","ICD-11: 8B61.4
 ICD-10: G12.1
 MeSH: D020966
 OMIM: 313200","PMID:19405197
 著者        Finsterer J
 タイトル      Bulbar and spinal muscular atrophy (Kennedy's disease): a review.
 雑誌        Eur J Neurol 16:556-61 (2009)
 DOI:10.1111/j.1468-1331.2009.02591.x
 PMID:19066230
 著者        Tokui K, Adachi H, Waza M, Katsuno M, Minamiyama M, Doi H, Tanaka K, Hamazaki J, Murata S, Tanaka F, Sobue G
 タイトル      17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.
 雑誌        Hum Mol Genet 18:898-910 (2009)
 DOI:10.1093/hmg/ddn419
 PMID:18775514
 著者        Jordan CL, Lieberman AP
 タイトル      Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?
 雑誌        Curr Opin Pharmacol 8:752-8 (2008)
 DOI:10.1016/j.coph.2008.08.006
 PMID:18473821
 著者        Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G
 タイトル      Molecular genetics and biomarkers of polyglutamine diseases.
 雑誌        Curr Mol Med 8:221-34 (2008)
 DOI:10.2174/156652408784221298
 PMID:17984063
 著者        Monks DA, Johansen JA, Mo K, Rao P, Eagleson B, Yu Z, Lieberman AP, Breedlove SM, Jordan CL
 タイトル      Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease.
 雑誌        Proc Natl Acad Sci U S A 104:18259-64 (2007)
 DOI:10.1073/pnas.0705501104
 PMID:17359355
 著者        Adachi H, Waza M, Katsuno M, Tanaka F, Doyu M, Sobue G
 タイトル      Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy.
 雑誌        Neuropathol Appl Neurobiol 33:135-51 (2007)
 DOI:10.1111/j.1365-2990.2007.00830.x
 PMID:17334372
 著者        Yang Z, Chang YJ, Yu IC, Yeh S, Wu CC, Miyamoto H, Merry DE, Sobue G, Chen LM, Chang SS, Chang C
 タイトル      ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor.
 雑誌        Nat Med 13:348-53 (2007)
 DOI:10.1038/nm1547
 PMID:15133611
 著者        Katsuno M, Adachi H, Tanaka F, Sobue G
 タイトル      Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives.
 雑誌        J Mol Med 82:298-307 (2004)
 DOI:10.1007/s00109-004-0530-7
 PMID:14585172
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:10.1017/S1462399403006598
 PMID:12470181
 著者        Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC, Hanemann CO
 タイトル      X-linked bulbospinal neuronopathy: Kennedy disease.
 雑誌        Arch Neurol 59:1921-6 (2002)
 DOI:10.1001/archneur.59.12.1921
 PMID:12189162
 著者        McManamny P, Chy HS, Finkelstein DI, Craythorn RG, Crack PJ, Kola I, Cheema SS, Horne MK, Wreford NG, O'Bryan MK, De Kretser DM, Morrison JR
 タイトル      A mouse model of spinal and bulbar muscular atrophy.
 雑誌        Hum Mol Genet 11:2103-11 (2002)
 DOI:10.1093/hmg/11.18.2103
 PMID:12161529
 著者        Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, Tardieu S, Chadarevian R, Giral P, Turpin G
 タイトル      A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.
 雑誌        J Clin Endocrinol Metab 87:3893-901 (2002)
 DOI:10.1210/jcem.87.8.8780
 PMID:2062380
 著者        La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH
 タイトル      Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nature 352:77-9 (1991)
 DOI:10.1038/352077a0
 PMID:1449253
 著者        Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A
 タイトル      Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.
 雑誌        Ann Neurol 32:707-10 (1992)
 DOI:10.1002/ana.410320517
 PMID:1303283
 著者        La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH
 タイトル      Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nat Genet 2:301-4 (1992)
 DOI:10.1038/ng1292-301","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00062"">H00062</a>","球脊髄性筋萎縮症 (SBMA);
 ケネディ病","Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death.",,"AR; androgen receptor (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:367"">367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08557"">K08557</a>]",,,,"リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]","Disease class: polyglutamine disease
 Affected region: anterior horn, bulbar region (cerebellum, medulla oblongata, pons), dorsal root ganglia
 Microscopic lesion: neuronal and cytoplasmic inclusions","ICD-11: 8B61.4
 ICD-10: G12.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020966"">D020966</a>
 OMIM: <a href=""https://www.omim.org/entry/313200"">313200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19405197"">19405197</a>
 著者        Finsterer J
 タイトル      Bulbar and spinal muscular atrophy (Kennedy's disease): a review.
 雑誌        Eur J Neurol 16:556-61 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1468-1331.2009.02591.x"">10.1111/j.1468-1331.2009.02591.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19066230"">19066230</a>
 著者        Tokui K, Adachi H, Waza M, Katsuno M, Minamiyama M, Doi H, Tanaka K, Hamazaki J, Murata S, Tanaka F, Sobue G
 タイトル      17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.
 雑誌        Hum Mol Genet 18:898-910 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn419"">10.1093/hmg/ddn419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18775514"">18775514</a>
 著者        Jordan CL, Lieberman AP
 タイトル      Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?
 雑誌        Curr Opin Pharmacol 8:752-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.coph.2008.08.006"">10.1016/j.coph.2008.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18473821"">18473821</a>
 著者        Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G
 タイトル      Molecular genetics and biomarkers of polyglutamine diseases.
 雑誌        Curr Mol Med 8:221-34 (2008)
 DOI:<a href=""https://doi.org/10.2174/156652408784221298"">10.2174/156652408784221298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17984063"">17984063</a>
 著者        Monks DA, Johansen JA, Mo K, Rao P, Eagleson B, Yu Z, Lieberman AP, Breedlove SM, Jordan CL
 タイトル      Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease.
 雑誌        Proc Natl Acad Sci U S A 104:18259-64 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0705501104"">10.1073/pnas.0705501104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17359355"">17359355</a>
 著者        Adachi H, Waza M, Katsuno M, Tanaka F, Doyu M, Sobue G
 タイトル      Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy.
 雑誌        Neuropathol Appl Neurobiol 33:135-51 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2990.2007.00830.x"">10.1111/j.1365-2990.2007.00830.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17334372"">17334372</a>
 著者        Yang Z, Chang YJ, Yu IC, Yeh S, Wu CC, Miyamoto H, Merry DE, Sobue G, Chen LM, Chang SS, Chang C
 タイトル      ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor.
 雑誌        Nat Med 13:348-53 (2007)
 DOI:<a href=""https://doi.org/10.1038/nm1547"">10.1038/nm1547</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15133611"">15133611</a>
 著者        Katsuno M, Adachi H, Tanaka F, Sobue G
 タイトル      Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives.
 雑誌        J Mol Med 82:298-307 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00109-004-0530-7"">10.1007/s00109-004-0530-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14585172"">14585172</a>
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:<a href=""https://doi.org/10.1017/S1462399403006598"">10.1017/S1462399403006598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12470181"">12470181</a>
 著者        Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC, Hanemann CO
 タイトル      X-linked bulbospinal neuronopathy: Kennedy disease.
 雑誌        Arch Neurol 59:1921-6 (2002)
 DOI:<a href=""https://doi.org/10.1001/archneur.59.12.1921"">10.1001/archneur.59.12.1921</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12189162"">12189162</a>
 著者        McManamny P, Chy HS, Finkelstein DI, Craythorn RG, Crack PJ, Kola I, Cheema SS, Horne MK, Wreford NG, O'Bryan MK, De Kretser DM, Morrison JR
 タイトル      A mouse model of spinal and bulbar muscular atrophy.
 雑誌        Hum Mol Genet 11:2103-11 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.18.2103"">10.1093/hmg/11.18.2103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12161529"">12161529</a>
 著者        Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, Tardieu S, Chadarevian R, Giral P, Turpin G
 タイトル      A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.
 雑誌        J Clin Endocrinol Metab 87:3893-901 (2002)
 DOI:<a href=""https://doi.org/10.1210/jcem.87.8.8780"">10.1210/jcem.87.8.8780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2062380"">2062380</a>
 著者        La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH
 タイトル      Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nature 352:77-9 (1991)
 DOI:<a href=""https://doi.org/10.1038/352077a0"">10.1038/352077a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1449253"">1449253</a>
 著者        Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A
 タイトル      Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.
 雑誌        Ann Neurol 32:707-10 (1992)
 DOI:<a href=""https://doi.org/10.1002/ana.410320517"">10.1002/ana.410320517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1303283"">1303283</a>
 著者        La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH
 タイトル      Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nat Genet 2:301-4 (1992)
 DOI:<a href=""https://doi.org/10.1038/ng1292-301"">10.1038/ng1292-301</a>"
H00063,"脊髄小脳失調症
 下位グループ    マチャドジョセフ病 [DS:H01478]
 上位グループ    脊髄小脳変性症 [DS:H01616]",,,"The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.",神経変性疾患,"nt06410  Calcium signaling
 nt06411  Potassium transport
 nt06413  Autophagy
 nt06415  PI3K signaling
 nt06440  Transcription
 nt06462  Spinocerebellar ataxia","(SCA1) ATXN1 (CAG repeat expansion) [HSA:6310] [KO:K23616]
 (SCA2) ATXN2 (CAG repeat expansion) [HSA:6311] [KO:K23625]
 (SCA3) ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863]
 (SCA5) SPTBN2 [HSA:6712] [KO:K23932]
 (SCA6) CACNA1A (CAG repeat expansion) [HSA:773] [KO:K04344]
 (SCA7) ATXN7 (CAG repeat expansion) [HSA:6314] [KO:K11318]
 (SCA8) ATXN8OS (CTG/CAG repeat expansion) [HSA:6315] [KO:K23933]
 (SCA10) ATXN10 (ATTCT repeat expansion) [HSA:25814] [KO:K19323]
 (SCA11) TTBK2 [HSA:146057] [KO:K08815]
 (SCA12) PPP2R2B (CAG repeat expansion) [HSA:5521] [KO:K04354]
 (SCA13) KCNC3 [HSA:3748] [KO:K04889]
 (SCA14) PRKCG [HSA:5582] [KO:K19663]
 (SCA15) ITPR1 (deletion) [HSA:3708] [KO:K04958]
 (SCA17) TBP (CAG repeat expansion) [HSA:6908] [KO:K03120]
 (SCA19/22) KCND3 [HSA:3752] [KO:K04893]
 (SCA21) TMEM240 [HSA:339453] [KO:K24870]
 (SCA23) PDYN [HSA:5173] [KO:K15840]
 (SCA26) EEF2 [HSA:1938] [KO:K03234]
 (SCA27) FGF14 [HSA:2259] [KO:K23920]
 (SCA28) AFG3L2 [HSA:10939] [KO:K08956]
 (SCA31) BEAN1 [HSA:146227] [KO:K19324]
 (SCA34) ELOVL4 [HSA:6785] [KO:K10249]
 (SCA35) TGM6 [HSA:343641] [KO:K05624]
 (SCA36) NOP56 [HSA:10528] [KO:K14564]
 (SCA37) DAB1 [HSA:1600] [KO:K20054]
 (SCA38) ELOVL5 [HSA:60481] [KO:K10244]
 (SCA40) CCDC88C [HSA:440193] [KO:K25811]
 (SCA41) TRPC3 [HSA:7222] [KO:K04966]
 (SCA42) CACNA1G [HSA:8913] [KO:K04854]
 (SCA43) MME [HSA:4311] [KO:K01389]
 (SCA44) GRM1 [HSA:2911] [KO:K04603]
 (SCA45) FAT2 [HSA:2196] [KO:K16506]
 (SCA46) PLD3 [HSA:23646] [KO:K16860]
 (SCA47) PUM1 [HSA:9698] [KO:K17943]",,,,,"Disease class: polyglutamine disease
 Affected region: cerebellum, dentate nucleus, brain stem (SCA1); cerebellum, brain stem, frontotemporal lobes (frontal lobe and temporal lobe) (SCA2); cerebellum, basal ganglia, brain stem, spinal cord (SCA3); cerebellum (SCA5); cerebellum, dentate nucleus, inferior olive (SCA6); cerebellum, inferior olive, dentate nucleus, pontine nuclei (also the retina) (SCA7); cerebral cortex, cerebellum (SCA12); cerebellum, inferior olive (SCA17)
 Microscopic lesion: neuronal inclusions (SCA1, SCA2, SCA3, SCA7, SCA17); cytoplasmic inclusions (SCA6)","ICD-11: 8A03.16
 ICD-10: G31.9
 MeSH: D020754
 OMIM: 164400 183090 109150 600224 183086 164500 608768 603516 604432 604326 605259 605361 606658 607136 607346 607454 610245 609306 609307 610246 117210 613908 614153 615945 615957 616053 616410 616795 617018 617691 617769 617770 617931 133190","PMID:14585172
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:10.1017/S1462399403006598
 PMID:19890685
 著者        Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P
 タイトル      Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.
 雑誌        Cerebellum 9:148-66 (2010)
 DOI:10.1007/s12311-009-0144-2
 PMID:30284037
 著者        Sullivan R, Yau WY, O'Connor E, Houlden H
 タイトル      Spinocerebellar ataxia: an update.
 雑誌        J Neurol 266:533-544 (2019)
 DOI:10.1007/s00415-018-9076-4
 PMID:17620880
 著者        Soong BW, Paulson HL
 タイトル      Spinocerebellar ataxias: an update.
 雑誌        Curr Opin Neurol 20:438-46 (2007)
 DOI:10.1097/WCO.0b013e3281fbd3dd
 PMID:12869811
 著者        Albin RL
 タイトル      Dominant ataxias and Friedreich ataxia: an update.
 雑誌        Curr Opin Neurol 16:507-14 (2003)
 DOI:10.1097/01.wco.0000084230.82329.d5
 PMID:10525976 (SCA1, SCA2, SCA3)
 著者        Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
 タイトル      Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
 雑誌        J Neurol 246:789-97 (1999)
 DOI:10.1007/s004150050456
 PMID:17390258 (SCA3)
 著者        Paulson HL
 タイトル      Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.
 雑誌        Semin Neurol 27:133-42 (2007)
 DOI:10.1055/s-2007-971172
 PMID:18317266 (SCA3)
 著者        Rub U, Brunt ER, Deller T
 タイトル      New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).
 雑誌        Curr Opin Neurol 21:111-6 (2008)
 DOI:10.1097/WCO.0b013e3282f7673d
 PMID:16927298 (SCA5)
 著者        Bauer P, Schols L, Riess O
 タイトル      Spectrin mutations in spinocerebellar ataxia (SCA).
 雑誌        Bioessays 28:785-7 (2006)
 DOI:10.1002/bies.20443
 PMID:17590087 (SCA15)
 著者        van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB
 タイトル      Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
 雑誌        PLoS Genet 3:e108 (2007)
 DOI:10.1371/journal.pgen.0030108
 PMID:23280838 (SCA19)
 著者        Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Kusters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS
 タイトル      Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
 雑誌        Ann Neurol 72:870-80 (2012)
 DOI:10.1002/ana.23700
 PMID:25070513 (SCA21)
 著者        Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buee L, Destee A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonniere B
 タイトル      TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
 雑誌        Brain 137:2657-63 (2014)
 DOI:10.1093/brain/awu202
 PMID:21035104 (SCA23)
 著者        Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS
 タイトル      Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
 雑誌        Am J Hum Genet 87:593-603 (2010)
 DOI:10.1016/j.ajhg.2010.10.001
 PMID:23001565 (SCA26)
 著者        Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM
 タイトル      A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
 雑誌        Hum Mol Genet 21:5472-83 (2012)
 DOI:10.1093/hmg/dds392
 PMID:24566826 (SCA34)
 著者        Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P
 タイトル      Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
 雑誌        JAMA Neurol 71:470-5 (2014)
 DOI:10.1001/jamaneurol.2013.6337
 PMID:25253745 (SCA35)
 著者        Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW
 タイトル      Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
 雑誌        Neurology 83:1554-61 (2014)
 DOI:10.1212/WNL.0000000000000909
 PMID:21683323 (SCA36)
 著者        Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
 タイトル      Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
 雑誌        Am J Hum Genet 89:121-30 (2011)
 DOI:10.1016/j.ajhg.2011.05.015
 PMID:25065913 (SCA38)
 著者        Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A
 タイトル      ELOVL5 mutations cause spinocerebellar ataxia 38.
 雑誌        Am J Hum Genet 95:209-17 (2014)
 DOI:10.1016/j.ajhg.2014.07.001
 PMID:25062847 (SCA40)
 著者        Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY
 タイトル      A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
 雑誌        J Med Genet 51:590-5 (2014)
 DOI:10.1136/jmedgenet-2014-102333
 PMID:21321808 (SCA41)
 著者        Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE
 タイトル      Candidate screening of the TRPC3 gene in cerebellar ataxia.
 雑誌        Cerebellum 10:296-9 (2011)
 DOI:10.1007/s12311-011-0253-6
 PMID:11927664 (SCA42)
 著者        Chemin J, Monteil A, Perez-Reyes E, Bourinet E, Nargeot J, Lory P
 タイトル      Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.
 雑誌        J Physiol 540:3-14 (2002)
 DOI:10.1113/jphysiol.2001.013269
 PMID:27583304 (SCA43)
 著者        Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M
 タイトル      MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
 雑誌        Neurol Genet 2:e94 (2016)
 DOI:10.1212/NXG.0000000000000094","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00063"">H00063</a>","脊髄小脳失調症
 下位グループ    マチャドジョセフ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01478"">H01478</a>]
 上位グループ    脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.","<a href=""https://www.kegg.jp/network/nt06410"">nt06410</a>  Calcium signaling
 <a href=""https://www.kegg.jp/network/nt06411"">nt06411</a>  Potassium transport
 <a href=""https://www.kegg.jp/network/nt06413"">nt06413</a>  Autophagy
 <a href=""https://www.kegg.jp/network/nt06415"">nt06415</a>  PI3K signaling
 <a href=""https://www.kegg.jp/network/nt06440"">nt06440</a>  Transcription
 <a href=""https://www.kegg.jp/network/nt06462"">nt06462</a>  Spinocerebellar ataxia","(SCA1) ATXN1 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6310"">6310</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23616"">K23616</a>]
 (SCA2) ATXN2 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6311"">6311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23625"">K23625</a>]
 (SCA3) ATXN3 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4287"">4287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11863"">K11863</a>]
 (SCA5) SPTBN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6712"">6712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23932"">K23932</a>]
 (SCA6) CACNA1A (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:773"">773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04344"">K04344</a>]
 (SCA7) ATXN7 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6314"">6314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11318"">K11318</a>]
 (SCA8) ATXN8OS (CTG/CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6315"">6315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23933"">K23933</a>]
 (SCA10) ATXN10 (ATTCT repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25814"">25814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19323"">K19323</a>]
 (SCA11) TTBK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146057"">146057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08815"">K08815</a>]
 (SCA12) PPP2R2B (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5521"">5521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04354"">K04354</a>]
 (SCA13) KCNC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3748"">3748</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04889"">K04889</a>]
 (SCA14) PRKCG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5582"">5582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19663"">K19663</a>]
 (SCA15) ITPR1 (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3708"">3708</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04958"">K04958</a>]
 (SCA17) TBP (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6908"">6908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03120"">K03120</a>]
 (SCA19/22) KCND3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3752"">3752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04893"">K04893</a>]
 (SCA21) TMEM240 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:339453"">339453</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24870"">K24870</a>]
 (SCA23) PDYN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5173"">5173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15840"">K15840</a>]
 (SCA26) EEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1938"">1938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03234"">K03234</a>]
 (SCA27) FGF14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2259"">2259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23920"">K23920</a>]
 (SCA28) AFG3L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10939"">10939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08956"">K08956</a>]
 (SCA31) BEAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146227"">146227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19324"">K19324</a>]
 (SCA34) ELOVL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6785"">6785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10249"">K10249</a>]
 (SCA35) TGM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:343641"">343641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05624"">K05624</a>]
 (SCA36) NOP56 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10528"">10528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14564"">K14564</a>]
 (SCA37) DAB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1600"">1600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20054"">K20054</a>]
 (SCA38) ELOVL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60481"">60481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10244"">K10244</a>]
 (SCA40) CCDC88C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440193"">440193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25811"">K25811</a>]
 (SCA41) TRPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7222"">7222</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04966"">K04966</a>]
 (SCA42) CACNA1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8913"">8913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04854"">K04854</a>]
 (SCA43) MME [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4311"">4311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01389"">K01389</a>]
 (SCA44) GRM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2911"">2911</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04603"">K04603</a>]
 (SCA45) FAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2196"">2196</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16506"">K16506</a>]
 (SCA46) PLD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23646"">23646</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16860"">K16860</a>]
 (SCA47) PUM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9698"">9698</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17943"">K17943</a>]",,,,,"Disease class: polyglutamine disease
 Affected region: cerebellum, dentate nucleus, brain stem (SCA1); cerebellum, brain stem, frontotemporal lobes (frontal lobe and temporal lobe) (SCA2); cerebellum, basal ganglia, brain stem, spinal cord (SCA3); cerebellum (SCA5); cerebellum, dentate nucleus, inferior olive (SCA6); cerebellum, inferior olive, dentate nucleus, pontine nuclei (also the retina) (SCA7); cerebral cortex, cerebellum (SCA12); cerebellum, inferior olive (SCA17)
 Microscopic lesion: neuronal inclusions (SCA1, SCA2, SCA3, SCA7, SCA17); cytoplasmic inclusions (SCA6)","ICD-11: 8A03.16
 ICD-10: G31.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020754"">D020754</a>
 OMIM: <a href=""https://www.omim.org/entry/164400"">164400</a> <a href=""https://www.omim.org/entry/183090"">183090</a> <a href=""https://www.omim.org/entry/109150"">109150</a> <a href=""https://www.omim.org/entry/600224"">600224</a> <a href=""https://www.omim.org/entry/183086"">183086</a> <a href=""https://www.omim.org/entry/164500"">164500</a> <a href=""https://www.omim.org/entry/608768"">608768</a> <a href=""https://www.omim.org/entry/603516"">603516</a> <a href=""https://www.omim.org/entry/604432"">604432</a> <a href=""https://www.omim.org/entry/604326"">604326</a> <a href=""https://www.omim.org/entry/605259"">605259</a> <a href=""https://www.omim.org/entry/605361"">605361</a> <a href=""https://www.omim.org/entry/606658"">606658</a> <a href=""https://www.omim.org/entry/607136"">607136</a> <a href=""https://www.omim.org/entry/607346"">607346</a> <a href=""https://www.omim.org/entry/607454"">607454</a> <a href=""https://www.omim.org/entry/610245"">610245</a> <a href=""https://www.omim.org/entry/609306"">609306</a> <a href=""https://www.omim.org/entry/609307"">609307</a> <a href=""https://www.omim.org/entry/610246"">610246</a> <a href=""https://www.omim.org/entry/117210"">117210</a> <a href=""https://www.omim.org/entry/613908"">613908</a> <a href=""https://www.omim.org/entry/614153"">614153</a> <a href=""https://www.omim.org/entry/615945"">615945</a> <a href=""https://www.omim.org/entry/615957"">615957</a> <a href=""https://www.omim.org/entry/616053"">616053</a> <a href=""https://www.omim.org/entry/616410"">616410</a> <a href=""https://www.omim.org/entry/616795"">616795</a> <a href=""https://www.omim.org/entry/617018"">617018</a> <a href=""https://www.omim.org/entry/617691"">617691</a> <a href=""https://www.omim.org/entry/617769"">617769</a> <a href=""https://www.omim.org/entry/617770"">617770</a> <a href=""https://www.omim.org/entry/617931"">617931</a> <a href=""https://www.omim.org/entry/133190"">133190</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14585172"">14585172</a>
 著者        Rudnicki DD, Margolis RL.
 タイトル      Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
 雑誌        Expert Rev Mol Med 5:1-24 (2003)
 DOI:<a href=""https://doi.org/10.1017/S1462399403006598"">10.1017/S1462399403006598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19890685"">19890685</a>
 著者        Matilla-Duenas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P
 タイトル      Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.
 雑誌        Cerebellum 9:148-66 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12311-009-0144-2"">10.1007/s12311-009-0144-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30284037"">30284037</a>
 著者        Sullivan R, Yau WY, O'Connor E, Houlden H
 タイトル      Spinocerebellar ataxia: an update.
 雑誌        J Neurol 266:533-544 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00415-018-9076-4"">10.1007/s00415-018-9076-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17620880"">17620880</a>
 著者        Soong BW, Paulson HL
 タイトル      Spinocerebellar ataxias: an update.
 雑誌        Curr Opin Neurol 20:438-46 (2007)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e3281fbd3dd"">10.1097/WCO.0b013e3281fbd3dd</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12869811"">12869811</a>
 著者        Albin RL
 タイトル      Dominant ataxias and Friedreich ataxia: an update.
 雑誌        Curr Opin Neurol 16:507-14 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.wco.0000084230.82329.d5"">10.1097/01.wco.0000084230.82329.d5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10525976"">10525976</a> (SCA1, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCA2,"">SCA2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCA3)"">SCA3)</a>
 著者        Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, Klockgether T
 タイトル      Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
 雑誌        J Neurol 246:789-97 (1999)
 DOI:<a href=""https://doi.org/10.1007/s004150050456"">10.1007/s004150050456</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17390258"">17390258</a> (SCA3)
 著者        Paulson HL
 タイトル      Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.
 雑誌        Semin Neurol 27:133-42 (2007)
 DOI:<a href=""https://doi.org/10.1055/s-2007-971172"">10.1055/s-2007-971172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18317266"">18317266</a> (SCA3)
 著者        Rub U, Brunt ER, Deller T
 タイトル      New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).
 雑誌        Curr Opin Neurol 21:111-6 (2008)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e3282f7673d"">10.1097/WCO.0b013e3282f7673d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16927298"">16927298</a> (SCA5)
 著者        Bauer P, Schols L, Riess O
 タイトル      Spectrin mutations in spinocerebellar ataxia (SCA).
 雑誌        Bioessays 28:785-7 (2006)
 DOI:<a href=""https://doi.org/10.1002/bies.20443"">10.1002/bies.20443</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17590087"">17590087</a> (SCA15)
 著者        van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB
 タイトル      Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
 雑誌        PLoS Genet 3:e108 (2007)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.0030108"">10.1371/journal.pgen.0030108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23280838"">23280838</a> (SCA19)
 著者        Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Kusters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS
 タイトル      Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
 雑誌        Ann Neurol 72:870-80 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23700"">10.1002/ana.23700</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25070513"">25070513</a> (SCA21)
 著者        Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buee L, Destee A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonniere B
 タイトル      TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
 雑誌        Brain 137:2657-63 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awu202"">10.1093/brain/awu202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21035104"">21035104</a> (SCA23)
 著者        Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS
 タイトル      Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
 雑誌        Am J Hum Genet 87:593-603 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.001"">10.1016/j.ajhg.2010.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23001565"">23001565</a> (SCA26)
 著者        Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM
 タイトル      A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
 雑誌        Hum Mol Genet 21:5472-83 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds392"">10.1093/hmg/dds392</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24566826"">24566826</a> (SCA34)
 著者        Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P
 タイトル      Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
 雑誌        JAMA Neurol 71:470-5 (2014)
 DOI:<a href=""https://doi.org/10.1001/jamaneurol.2013.6337"">10.1001/jamaneurol.2013.6337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25253745"">25253745</a> (SCA35)
 著者        Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW
 タイトル      Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
 雑誌        Neurology 83:1554-61 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000909"">10.1212/WNL.0000000000000909</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21683323"">21683323</a> (SCA36)
 著者        Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
 タイトル      Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
 雑誌        Am J Hum Genet 89:121-30 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.015"">10.1016/j.ajhg.2011.05.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25065913"">25065913</a> (SCA38)
 著者        Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A
 タイトル      ELOVL5 mutations cause spinocerebellar ataxia 38.
 雑誌        Am J Hum Genet 95:209-17 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.001"">10.1016/j.ajhg.2014.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25062847"">25062847</a> (SCA40)
 著者        Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY
 タイトル      A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
 雑誌        J Med Genet 51:590-5 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102333"">10.1136/jmedgenet-2014-102333</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21321808"">21321808</a> (SCA41)
 著者        Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE
 タイトル      Candidate screening of the TRPC3 gene in cerebellar ataxia.
 雑誌        Cerebellum 10:296-9 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12311-011-0253-6"">10.1007/s12311-011-0253-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11927664"">11927664</a> (SCA42)
 著者        Chemin J, Monteil A, Perez-Reyes E, Bourinet E, Nargeot J, Lory P
 タイトル      Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.
 雑誌        J Physiol 540:3-14 (2002)
 DOI:<a href=""https://doi.org/10.1113/jphysiol.2001.013269"">10.1113/jphysiol.2001.013269</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27583304"">27583304</a> (SCA43)
 著者        Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M
 タイトル      MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
 雑誌        Neurol Genet 2:e94 (2016)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000094"">10.1212/NXG.0000000000000094</a>"
H00064,"毛細血管拡張性運動失調症
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]
 眼球運動失行を伴う失調症 [DS:H00848]
 脊髄小脳変性症 [DS:H01616]",,,"Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.",神経変性疾患; 原発性免疫不全症候群,,(AT) ATM [HSA:472] [KO:K04728],,,,,"Affected region: cerebellum
 Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells","ICD-11: 4A01.31
 ICD-10: G11.3
 MeSH: D001260
 OMIM: 208900","PMID:17889645
 著者        Rass U, Ahel I, West SC.
 タイトル      Defective DNA repair and neurodegenerative disease.
 雑誌        Cell 130:991-1004 (2007)
 DOI:10.1016/j.cell.2007.08.043
 PMID:15175861
 著者        Ristow M.
 タイトル      Neurodegenerative disorders associated with diabetes mellitus.
 雑誌        J Mol Med 82:510-29 (2004)
 DOI:10.1007/s00109-004-0552-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00064"">H00064</a>","毛細血管拡張性運動失調症
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 眼球運動失行を伴う失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00848"">H00848</a>]
 脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.",,"(AT) ATM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:472"">472</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04728"">K04728</a>]",,,,,"Affected region: cerebellum
 Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells","ICD-11: 4A01.31
 ICD-10: G11.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001260"">D001260</a>
 OMIM: <a href=""https://www.omim.org/entry/208900"">208900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17889645"">17889645</a>
 著者        Rass U, Ahel I, West SC.
 タイトル      Defective DNA repair and neurodegenerative disease.
 雑誌        Cell 130:991-1004 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2007.08.043"">10.1016/j.cell.2007.08.043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15175861"">15175861</a>
 著者        Ristow M.
 タイトル      Neurodegenerative disorders associated with diabetes mellitus.
 雑誌        J Mol Med 82:510-29 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00109-004-0552-1"">10.1007/s00109-004-0552-1</a>"
H00065,アレキサンダー病,,,"Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological feature of all forms of Alexander's disease is the presence of Rosenthal fibers which include protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins in astrocytes.",神経変性疾患,,GFAP; glial fibrillary acidic protein (mutation) [HSA:2670] [KO:K05640],,,,,"Disease class: leukodystrophy
 Affected regtion: midbrain, cerebellum
 Microscopic lesion: Rosenthal fibers","ICD-11: 8A44.2
 MeSH: D038261
 OMIM: 203450","PMID:17498694
 著者        Quinlan RA, Brenner M, Goldman JE, Messing A.
 タイトル      GFAP and its role in Alexander disease.
 雑誌        Exp Cell Res 313:2077-87 (2007)
 DOI:10.1016/j.yexcr.2007.04.004
 PMID:16826512
 著者        Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA
 タイトル      The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
 雑誌        Am J Hum Genet 79:197-213 (2006)
 DOI:10.1086/504411
 PMID:16774812 (drug)
 著者        Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M
 タイトル      TRH therapy in a patient with juvenile Alexander disease.
 雑誌        Brain Dev 28:663-7 (2006)
 DOI:10.1016/j.braindev.2006.05.001
 PMID:12175861
 著者        Li R, Messing A, Goldman JE, Brenner M
 タイトル      GFAP mutations in Alexander disease.
 雑誌        Int J Dev Neurosci 20:259-68 (2002)
 DOI:10.1016/S0736-5748(02)00019-9
 PMID:11138011
 著者        Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A
 タイトル      Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
 雑誌        Nat Genet 27:117-20 (2001)
 DOI:10.1038/83679","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00065"">H00065</a>",アレキサンダー病,"Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological feature of all forms of Alexander's disease is the presence of Rosenthal fibers which include protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins in astrocytes.",,"GFAP; glial fibrillary acidic protein (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2670"">2670</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05640"">K05640</a>]",,,,,"Disease class: leukodystrophy
 Affected regtion: midbrain, cerebellum
 Microscopic lesion: Rosenthal fibers","ICD-11: 8A44.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D038261"">D038261</a>
 OMIM: <a href=""https://www.omim.org/entry/203450"">203450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17498694"">17498694</a>
 著者        Quinlan RA, Brenner M, Goldman JE, Messing A.
 タイトル      GFAP and its role in Alexander disease.
 雑誌        Exp Cell Res 313:2077-87 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2007.04.004"">10.1016/j.yexcr.2007.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826512"">16826512</a>
 著者        Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA
 タイトル      The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
 雑誌        Am J Hum Genet 79:197-213 (2006)
 DOI:<a href=""https://doi.org/10.1086/504411"">10.1086/504411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16774812"">16774812</a> (drug)
 著者        Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M
 タイトル      TRH therapy in a patient with juvenile Alexander disease.
 雑誌        Brain Dev 28:663-7 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2006.05.001"">10.1016/j.braindev.2006.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12175861"">12175861</a>
 著者        Li R, Messing A, Goldman JE, Brenner M
 タイトル      GFAP mutations in Alexander disease.
 雑誌        Int J Dev Neurosci 20:259-68 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0736-5748(02)00019-9"">10.1016/S0736-5748(02)00019-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11138011"">11138011</a>
 著者        Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A
 タイトル      Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
 雑誌        Nat Genet 27:117-20 (2001)
 DOI:<a href=""https://doi.org/10.1038/83679"">10.1038/83679</a>"
H00066,レビー小体型認知症,,,"Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after Alzheimer's disease. Progressive accumulation of alpha-synuclein- and ubiquitin-positive Lewy Bodies is seen in the brainstem, the limbic system or cortical and subcortical regions, depending on disease subtype. The genetic risk factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB.",神経変性疾患,,"SNCA; synuclein, alpha (mutation, triplications) [HSA:6622] [KO:K04528]
 SNCB; synuclein, beta (mutation) [HSA:6620] [KO:K24201]
 LRRK2; leucine-rich repeat kinase 2 (mutation) [HSA:120892] [KO:K08844]
 GBA; glucosidase, beta; acid (mutation) [HSA:2629] [KO:K01201]",,,,"ゾニサミド [DR:D00538]
 ドネペジル塩酸塩 [DR:D00670]","Disease class: synucleinopathy
 Affected region: basal ganglia
 Microscopic lesion: Lewy bodies","ICD-11: 8A22
 ICD-10: G31.8
 MeSH: D020961
 OMIM: 127750","PMID:18541113
 著者        Bonifati V
 タイトル      Recent advances in the genetics of dementia with lewy bodies.
 雑誌        Curr Neurol Neurosci Rep 8:187-9 (2008)
 DOI:10.1007/s11910-008-0030-1
 PMID:18413475
 著者        Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A
 タイトル      Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.
 雑誌        Arch Neurol 65:514-9 (2008)
 DOI:10.1001/archneur.65.4.514
 PMID:18332251
 著者        Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP
 タイトル      Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
 雑誌        Arch Neurol 65:379-82 (2008)
 DOI:10.1001/archneurol.2007.68
 PMID:18195271
 著者        Obi T, Nishioka K, Ross OA, Terada T, Yamazaki K, Sugiura A, Takanashi M, Mizoguchi K, Mori H, Mizuno Y, Hattori N
 タイトル      Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.
 雑誌        Neurology 70:238-41 (2008)
 DOI:10.1212/01.wnl.0000299387.59159.db
 PMID:16437559
 著者        Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW
 タイトル      Lrrk2 and Lewy body disease.
 雑誌        Ann Neurol 59:388-93 (2006)
 DOI:10.1002/ana.20731
 PMID:16131416
 著者        Burn DJ
 タイトル      Update on dementia with Lewy bodies.
 雑誌        Curr Neurol Neurosci Rep 5:339-44 (2005)
 DOI:10.1007/s11910-005-0057-5
 PMID:15655259
 著者        Hashimoto M, Kawahara K, Bar-On P, Rockenstein E, Crews L, Masliah E
 タイトル      The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease.
 雑誌        J Mol Neurosci 24:343-52 (2004)
 DOI:10.1385/JMN:24:3:343
 PMID:15312277
 著者        Aarsland D, Ballard CG, Halliday G
 タイトル      Are Parkinson's disease with dementia and dementia with Lewy bodies the same entity?
 雑誌        J Geriatr Psychiatry Neurol 17:137-45 (2004)
 DOI:10.1177/0891988704267470
 PMID:12898286
 著者        Graeber MB, Muller U
 タイトル      Dementia with Lewy bodies: disease concept and genetics.
 雑誌        Neurogenetics 4:157-62 (2003)
 DOI:10.1007/s10048-003-0155-y
 PMID:11890854
 著者        Brett FM, Henson C, Staunton H
 タイトル      Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology.
 雑誌        Arch Neurol 59:464-7 (2002)
 DOI:10.1001/archneur.59.3.464
 PMID:11470957
 著者        Dickson DW
 タイトル      Alpha-synuclein and the Lewy body disorders.
 雑誌        Curr Opin Neurol 14:423-32 (2001)
 DOI:10.1097/00019052-200108000-00001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00066"">H00066</a>",レビー小体型認知症,"Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after Alzheimer's disease. Progressive accumulation of alpha-synuclein- and ubiquitin-positive Lewy Bodies is seen in the brainstem, the limbic system or cortical and subcortical regions, depending on disease subtype. The genetic risk factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB.",,"SNCA; synuclein, alpha (mutation, triplications) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6622"">6622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04528"">K04528</a>]
 SNCB; synuclein, beta (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6620"">6620</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24201"">K24201</a>]
 LRRK2; leucine-rich repeat kinase 2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120892"">120892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08844"">K08844</a>]
 GBA; glucosidase, beta; acid (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2629"">2629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01201"">K01201</a>]",,,,"ゾニサミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00538"">D00538</a>]
 ドネペジル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00670"">D00670</a>]","Disease class: synucleinopathy
 Affected region: basal ganglia
 Microscopic lesion: Lewy bodies","ICD-11: 8A22
 ICD-10: G31.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020961"">D020961</a>
 OMIM: <a href=""https://www.omim.org/entry/127750"">127750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18541113"">18541113</a>
 著者        Bonifati V
 タイトル      Recent advances in the genetics of dementia with lewy bodies.
 雑誌        Curr Neurol Neurosci Rep 8:187-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11910-008-0030-1"">10.1007/s11910-008-0030-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18413475"">18413475</a>
 著者        Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A
 タイトル      Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.
 雑誌        Arch Neurol 65:514-9 (2008)
 DOI:<a href=""https://doi.org/10.1001/archneur.65.4.514"">10.1001/archneur.65.4.514</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18332251"">18332251</a>
 著者        Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP
 タイトル      Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
 雑誌        Arch Neurol 65:379-82 (2008)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2007.68"">10.1001/archneurol.2007.68</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18195271"">18195271</a>
 著者        Obi T, Nishioka K, Ross OA, Terada T, Yamazaki K, Sugiura A, Takanashi M, Mizoguchi K, Mori H, Mizuno Y, Hattori N
 タイトル      Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.
 雑誌        Neurology 70:238-41 (2008)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000299387.59159.db"">10.1212/01.wnl.0000299387.59159.db</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16437559"">16437559</a>
 著者        Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW
 タイトル      Lrrk2 and Lewy body disease.
 雑誌        Ann Neurol 59:388-93 (2006)
 DOI:<a href=""https://doi.org/10.1002/ana.20731"">10.1002/ana.20731</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16131416"">16131416</a>
 著者        Burn DJ
 タイトル      Update on dementia with Lewy bodies.
 雑誌        Curr Neurol Neurosci Rep 5:339-44 (2005)
 DOI:<a href=""https://doi.org/10.1007/s11910-005-0057-5"">10.1007/s11910-005-0057-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15655259"">15655259</a>
 著者        Hashimoto M, Kawahara K, Bar-On P, Rockenstein E, Crews L, Masliah E
 タイトル      The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease.
 雑誌        J Mol Neurosci 24:343-52 (2004)
 DOI:<a href=""https://doi.org/10.1385/JMN:"">10.1385/JMN:</a><a href=""https://doi.org/24:"">24:</a><a href=""https://doi.org/3:"">3:</a><a href=""https://doi.org/343"">343</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15312277"">15312277</a>
 著者        Aarsland D, Ballard CG, Halliday G
 タイトル      Are Parkinson's disease with dementia and dementia with Lewy bodies the same entity?
 雑誌        J Geriatr Psychiatry Neurol 17:137-45 (2004)
 DOI:<a href=""https://doi.org/10.1177/0891988704267470"">10.1177/0891988704267470</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12898286"">12898286</a>
 著者        Graeber MB, Muller U
 タイトル      Dementia with Lewy bodies: disease concept and genetics.
 雑誌        Neurogenetics 4:157-62 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10048-003-0155-y"">10.1007/s10048-003-0155-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11890854"">11890854</a>
 著者        Brett FM, Henson C, Staunton H
 タイトル      Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology.
 雑誌        Arch Neurol 59:464-7 (2002)
 DOI:<a href=""https://doi.org/10.1001/archneur.59.3.464"">10.1001/archneur.59.3.464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11470957"">11470957</a>
 著者        Dickson DW
 タイトル      Alpha-synuclein and the Lewy body disorders.
 雑誌        Curr Opin Neurol 14:423-32 (2001)
 DOI:<a href=""https://doi.org/10.1097/00019052-200108000-00001"">10.1097/00019052-200108000-00001</a>"
H00067,"フリードライヒ運動失調症
 上位グループ    脊髄小脳変性症 [DS:H01616]",,,"Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Frataxin deficiency is thought to cause generation of reactive oxygen species, reactive nitrogen species and mitochondrial dysfunction.",神経変性疾患,,FXN; frataxin (GAA repeat expansion) [HSA:2395] [KO:K19054],,,,,"Disease class: mitochondrial disorder
 Affected region: spinal cord, peripheral nerves
 Microscopic lesion: brain iron accumulation","ICD-11: 8A03.10
 ICD-10: G11.1
 MeSH: D005621
 OMIM: 229300","PMID:18852343
 著者        Pandolfo M
 タイトル      Friedreich ataxia.
 雑誌        Arch Neurol 65:1296-303 (2008)
 DOI:10.1001/archneur.65.10.1296
 PMID:17596984
 著者        Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H
 タイトル      Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.
 雑誌        Mol Genet Metab 92:23-35 (2007)
 DOI:10.1016/j.ymgme.2007.05.009
 PMID:16942541
 著者        Finsterer J.
 タイトル      Central nervous system manifestations of mitochondrial disorders.
 雑誌        Acta Neurol Scand 114:217-38 (2006)
 DOI:10.1111/j.1600-0404.2006.00671.x
 PMID:16805775
 著者        Kwong JQ, Beal MF, Manfredi G.
 タイトル      The role of mitochondria in inherited neurodegenerative diseases.
 雑誌        J Neurochem 97:1659-75 (2006)
 DOI:10.1111/j.1471-4159.2006.03990.x
 PMID:15896810
 著者        Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella AM, Butterfield DA
 タイトル      Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia.
 雑誌        J Neurol Sci 233:145-62 (2005)
 DOI:10.1016/j.jns.2005.03.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00067"">H00067</a>","フリードライヒ運動失調症
 上位グループ    脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Frataxin deficiency is thought to cause generation of reactive oxygen species, reactive nitrogen species and mitochondrial dysfunction.",,"FXN; frataxin (GAA repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2395"">2395</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19054"">K19054</a>]",,,,,"Disease class: mitochondrial disorder
 Affected region: spinal cord, peripheral nerves
 Microscopic lesion: brain iron accumulation","ICD-11: 8A03.10
 ICD-10: G11.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005621"">D005621</a>
 OMIM: <a href=""https://www.omim.org/entry/229300"">229300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18852343"">18852343</a>
 著者        Pandolfo M
 タイトル      Friedreich ataxia.
 雑誌        Arch Neurol 65:1296-303 (2008)
 DOI:<a href=""https://doi.org/10.1001/archneur.65.10.1296"">10.1001/archneur.65.10.1296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17596984"">17596984</a>
 著者        Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H
 タイトル      Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.
 雑誌        Mol Genet Metab 92:23-35 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2007.05.009"">10.1016/j.ymgme.2007.05.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16942541"">16942541</a>
 著者        Finsterer J.
 タイトル      Central nervous system manifestations of mitochondrial disorders.
 雑誌        Acta Neurol Scand 114:217-38 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2006.00671.x"">10.1111/j.1600-0404.2006.00671.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16805775"">16805775</a>
 著者        Kwong JQ, Beal MF, Manfredi G.
 タイトル      The role of mitochondria in inherited neurodegenerative diseases.
 雑誌        J Neurochem 97:1659-75 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1471-4159.2006.03990.x"">10.1111/j.1471-4159.2006.03990.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15896810"">15896810</a>
 著者        Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella AM, Butterfield DA
 タイトル      Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia.
 雑誌        J Neurol Sci 233:145-62 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2005.03.012"">10.1016/j.jns.2005.03.012</a>"
H00068,"レーベル遺伝性視神経症;
 レーバー遺伝性視神経萎縮症
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in Western Europe is 1/30000-1/50000; at least 1 in 14000 males is affected.",神経系疾患; 先天性代謝異常症,,"ND1 [HSA:4535] [KO:K03878]
 ND2 [HSA:4536] [KO:K03879]
 ND4 [HSA:4538] [KO:K03881]
 ND4L [HSA:4539] [KO:K03882]
 ND5 [HSA:4540] [KO:K03883]
 ND6 [HSA:4541] [KO:K03884]
 CYTB [HSA:4519] [KO:K00412]
 COX1 [HSA:4512] [KO:K02256]
 COX3 [HSA:4514] [KO:K02262]
 ATP6 [HSA:4508] [KO:K02126]",,,,,,"ICD-11: 9C40.B 8C73.Y
 ICD-10: H47.2
 MeSH: D029242
 OMIM: 535000","PMID:19001017
 著者        Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF
 タイトル      Inherited mitochondrial optic neuropathies.
 雑誌        J Med Genet 46:145-58 (2009)
 DOI:10.1136/jmg.2007.054270
 PMID:16829155
 著者        Yen MY, Wang AG, Wei YH
 タイトル      Leber's hereditary optic neuropathy: a multifactorial disease.
 雑誌        Prog Retin Eye Res 25:381-96 (2006)
 DOI:10.1016/j.preteyeres.2006.05.002
 PMID:16942541
 著者        Finsterer J.
 タイトル      Central nervous system manifestations of mitochondrial disorders.
 雑誌        Acta Neurol Scand 114:217-38 (2006)
 DOI:10.1111/j.1600-0404.2006.00671.x
 PMID:15513454
 著者        Johns DR, Colby KA
 タイトル      Treatment of Leber's hereditary optic neuropathy: theory to practice.
 雑誌        Semin Ophthalmol 17:33-8 (2002)
 DOI:10.1076/soph.17.1.33.10288
 PMID:12464728
 著者        Newman NJ
 タイトル      From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.
 雑誌        J Neuroophthalmol 22:257-61 (2002)
 DOI:10.1097/00041327-200212000-00001
 PMID:8755941
 著者        Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S
 タイトル      Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
 雑誌        Am J Hum Genet 59:481-5 (1996)
 PMID:8240102
 著者        Smith KH, Johns DR, Heher KL, Miller NR
 タイトル      Heteroplasmy in Leber's hereditary optic neuropathy.
 雑誌        Arch Ophthalmol 111:1486-90 (1993)
 DOI:10.1001/archopht.1993.01090110052022
 PMID:7760326
 著者        Riordan-Eva P, Harding AE
 タイトル      Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
 雑誌        J Med Genet 32:81-7 (1995)
 DOI:10.1136/jmg.32.2.81
 PMID:3201231
 著者        Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK
 タイトル      Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
 雑誌        Science 242:1427-30 (1988)
 DOI:10.1126/science.3201231
 PMID:1634041
 著者        Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC.
 タイトル      Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
 雑誌        FASEB J 6:2791-9 (1992)
 DOI:10.1096/fasebj.6.10.1634041","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00068"">H00068</a>","レーベル遺伝性視神経症;
 レーバー遺伝性視神経萎縮症
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in Western Europe is 1/30000-1/50000; at least 1 in 14000 males is affected.",,"ND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4535"">4535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03878"">K03878</a>]
 ND2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4536"">4536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03879"">K03879</a>]
 ND4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4538"">4538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03881"">K03881</a>]
 ND4L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4539"">4539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03882"">K03882</a>]
 ND5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4540"">4540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03883"">K03883</a>]
 ND6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4541"">4541</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03884"">K03884</a>]
 CYTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4519"">4519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00412"">K00412</a>]
 COX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4512"">4512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02256"">K02256</a>]
 COX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4514"">4514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02262"">K02262</a>]
 ATP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4508"">4508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02126"">K02126</a>]",,,,,,"ICD-11: 9C40.B 8C73.Y
 ICD-10: H47.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029242"">D029242</a>
 OMIM: <a href=""https://www.omim.org/entry/535000"">535000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19001017"">19001017</a>
 著者        Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF
 タイトル      Inherited mitochondrial optic neuropathies.
 雑誌        J Med Genet 46:145-58 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.054270"">10.1136/jmg.2007.054270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16829155"">16829155</a>
 著者        Yen MY, Wang AG, Wei YH
 タイトル      Leber's hereditary optic neuropathy: a multifactorial disease.
 雑誌        Prog Retin Eye Res 25:381-96 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.preteyeres.2006.05.002"">10.1016/j.preteyeres.2006.05.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16942541"">16942541</a>
 著者        Finsterer J.
 タイトル      Central nervous system manifestations of mitochondrial disorders.
 雑誌        Acta Neurol Scand 114:217-38 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2006.00671.x"">10.1111/j.1600-0404.2006.00671.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15513454"">15513454</a>
 著者        Johns DR, Colby KA
 タイトル      Treatment of Leber's hereditary optic neuropathy: theory to practice.
 雑誌        Semin Ophthalmol 17:33-8 (2002)
 DOI:<a href=""https://doi.org/10.1076/soph.17.1.33.10288"">10.1076/soph.17.1.33.10288</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464728"">12464728</a>
 著者        Newman NJ
 タイトル      From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.
 雑誌        J Neuroophthalmol 22:257-61 (2002)
 DOI:<a href=""https://doi.org/10.1097/00041327-200212000-00001"">10.1097/00041327-200212000-00001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8755941"">8755941</a>
 著者        Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S
 タイトル      Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
 雑誌        Am J Hum Genet 59:481-5 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8240102"">8240102</a>
 著者        Smith KH, Johns DR, Heher KL, Miller NR
 タイトル      Heteroplasmy in Leber's hereditary optic neuropathy.
 雑誌        Arch Ophthalmol 111:1486-90 (1993)
 DOI:<a href=""https://doi.org/10.1001/archopht.1993.01090110052022"">10.1001/archopht.1993.01090110052022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7760326"">7760326</a>
 著者        Riordan-Eva P, Harding AE
 タイトル      Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
 雑誌        J Med Genet 32:81-7 (1995)
 DOI:<a href=""https://doi.org/10.1136/jmg.32.2.81"">10.1136/jmg.32.2.81</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3201231"">3201231</a>
 著者        Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK
 タイトル      Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
 雑誌        Science 242:1427-30 (1988)
 DOI:<a href=""https://doi.org/10.1126/science.3201231"">10.1126/science.3201231</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1634041"">1634041</a>
 著者        Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC.
 タイトル      Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
 雑誌        FASEB J 6:2791-9 (1992)
 DOI:<a href=""https://doi.org/10.1096/fasebj.6.10.1634041"">10.1096/fasebj.6.10.1634041</a>"
H00069,"糖原病
 下位グループ    フォン・ギールケ病 (GSD type Ia) [DS:H01939]
 ポンペ病 (GSD type II) [DS:H01940]
 コーリ病・フォーブズ病 (GSD type III) [DS:H01941]
 アンダーセン病 (GSD type IV) [DS:H01942]
 マックアードル病 (GSD type V) [DS:H01943]
 ハース病 (GSD type VI) [DS:H01944]
 垂井病 (GSD type VII) [DS:H01945]
 ホスホリラーゼキナーゼ欠損症 (GSD type IX) [DS:H01948]
 糖原病 X 型 [DS:H01951]
 糖原病 XI 型 [DS:H01946]
 糖原病 XII 型 [DS:H01952]
 糖原病 XIII 型 [DS:H01953]
 糖原病 XIV 型 [DS:H01954]
 糖原病 XV 型 [DS:H01955]
 糖原病 0a 型 [DS:H01950]
 糖原病 0b 型 [DS:H01949]
 ファンコニ・ビッケル症候群 [DS:H01947]",,,"Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease.",先天性代謝異常症,nt06017  Glycogen metabolism,"(GSD1A) G6PC1 [HSA:2538] [KO:K01084]
 (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
 (GSD2) GAA [HSA:2548] [KO:K12316]
 (GSD3) AGL [HSA:178] [KO:K01196]
 (GSD4) GBE1 [HSA:2632] [KO:K00700]
 (GSD5) PYGM [HSA:5837] [KO:K00688]
 (GSD6) PYGL [HSA:5836] [KO:K00688]
 (GSD7) PFKM [HSA:5213] [KO:K00850]
 (GSD9A) PHKA2 [HSA:5256] [KO:K07190]
 (GSD9B) PHKB [HSA:5257] [KO:K07190]
 (GSD9C) PHKG2 [HSA:5261] [KO:K00871]
 (GSD9D) PHKA1 [HSA:5255] [KO:K07190]
 (GSD10) PGAM2 [HSA:5224] [KO:K01834]
 (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
 (GSD11) LDHA [HSA:3939] [KO:K00016]
 (GSD12) ALDOA [HSA:226] [KO:K01623]
 (GSD13) ENO3 [HSA:2027] [KO:K01689]
 (GSD14) PGM1 [HSA:5236] [KO:K01835]
 (GSD15) GYG1 [HSA:2992] [KO:K00750]
 (GSDH) PRKAG2 [HSA:51422] [KO:K07200]
 (GSD0A) GYS2 [HSA:2998] [KO:K00693]
 (GSD0B) GYS1 [HSA:2997] [KO:K00693]",,,,,"Additional genes for phosphorylase kinase, which activates glycogen phosphorylase, may also be involved.","ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006008
 OMIM: 232200 232220 232240 232300 232400 232500 232600 232700 232800 306000 261750 613027 300559 261670 227810 612933 611881 612932 612934 613507 261740 240600 611556","PMID:17552001
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:10.3748/wjg.v13.i18.2541
 PMID:17027861
 著者        Shin YS
 タイトル      Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
 雑誌        Semin Pediatr Neurol 13:115-20 (2006)
 DOI:10.1016/j.spen.2006.06.007
 PMID:11949931 (GSD type I)
 著者        Chou JY, Matern D, Mansfield BC, Chen YT
 タイトル      Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
 雑誌        Curr Mol Med 2:121-43 (2002)
 DOI:10.2174/1566524024605798
 PMID:11949932 (GSD type II)
 著者        Raben N, Plotz P, Byrne BJ
 タイトル      Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
 雑誌        Curr Mol Med 2:145-66 (2002)
 DOI:10.2174/1566524024605789
 PMID:11949933 (GSD type III)
 著者        Shen JJ, Chen YT
 タイトル      Molecular characterization of glycogen storage disease type III.
 雑誌        Curr Mol Med 2:167-75 (2002)
 DOI:10.2174/1566524024605752
 PMID:11949934 (GSD type IV)
 著者        Moses SW, Parvari R
 タイトル      The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
 雑誌        Curr Mol Med 2:177-88 (2002)
 DOI:10.2174/1566524024605815
 PMID:11949935 (GSD type V)
 著者        Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM
 タイトル      Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
 雑誌        Curr Mol Med 2:189-96 (2002)
 DOI:10.2174/1566524024605770
 PMID:8655128 (GSD type IX)
 著者        Hendrickx J, Willems PJ
 タイトル      Genetic deficiencies of the glycogen phosphorylase system.
 雑誌        Hum Genet 97:551-6 (1996)
 DOI:10.1007/BF02281858
 PMID:11949937 (GSD type XI)
 著者        Santer R, Steinmann B, Schaub J
 タイトル      Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
 雑誌        Curr Mol Med 2:213-27 (2002)
 DOI:10.2174/1566524024605743
 PMID:16337419 (GSD type 0)
 著者        Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI
 タイトル      Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
 雑誌        Mol Genet Metab 87:284-8 (2006)
 DOI:10.1016/j.ymgme.2005.10.006
 PMID:8447317 (GSD type X)
 著者        Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
 タイトル      The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
 雑誌        Am J Hum Genet 52:472-7 (1993)
 PMID:2334430 (GSD type XI)
 著者        Maekawa M, Sudo K, Kanno T, Li SS
 タイトル      Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
 雑誌        Biochem Biophys Res Commun 168:677-82 (1990)
 DOI:10.1016/0006-291X(90)92374-9
 PMID:8598869 (GSD type XII)
 著者        Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
 タイトル      Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
 雑誌        N Engl J Med 334:1100-4 (1996)
 DOI:10.1056/NEJM199604253341705
 PMID:11506403 (GSD type XIII)
 著者        Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
 タイトル      Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
 雑誌        Ann Neurol 50:202-7 (2001)
 DOI:10.1002/ana.1095
 PMID:19625727 (GSD type XIV)
 著者        Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
 タイトル      Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 361:425-7 (2009)
 DOI:10.1056/NEJMc0901158
 PMID:20357282 (GSD type XV)
 著者        Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
 タイトル      Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
 雑誌        N Engl J Med 362:1203-10 (2010)
 DOI:10.1056/NEJMoa0900661
 PMID:15877279 (GSD of Heart)
 著者        Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
 タイトル      Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
 雑誌        Am J Hum Genet 76:1034-49 (2005)
 DOI:10.1086/430840","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>","糖原病
 下位グループ    フォン・ギールケ病 (GSD type Ia) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01939"">H01939</a>]
 ポンペ病 (GSD type II) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01940"">H01940</a>]
 コーリ病・フォーブズ病 (GSD type III) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01941"">H01941</a>]
 アンダーセン病 (GSD type IV) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01942"">H01942</a>]
 マックアードル病 (GSD type V) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01943"">H01943</a>]
 ハース病 (GSD type VI) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01944"">H01944</a>]
 垂井病 (GSD type VII) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01945"">H01945</a>]
 ホスホリラーゼキナーゼ欠損症 (GSD type IX) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01948"">H01948</a>]
 糖原病 X 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01951"">H01951</a>]
 糖原病 XI 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01946"">H01946</a>]
 糖原病 XII 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01952"">H01952</a>]
 糖原病 XIII 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01953"">H01953</a>]
 糖原病 XIV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01954"">H01954</a>]
 糖原病 XV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01955"">H01955</a>]
 糖原病 0a 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01950"">H01950</a>]
 糖原病 0b 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01949"">H01949</a>]
 ファンコニ・ビッケル症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01947"">H01947</a>]","Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","(GSD1A) G6PC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2538"">2538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01084"">K01084</a>]
 (GSD1B/1C) SLC37A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2542"">2542</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08171"">K08171</a>]
 (GSD2) GAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2548"">2548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12316"">K12316</a>]
 (GSD3) AGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:178"">178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01196"">K01196</a>]
 (GSD4) GBE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2632"">2632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00700"">K00700</a>]
 (GSD5) PYGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5837"">5837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]
 (GSD6) PYGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5836"">5836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]
 (GSD7) PFKM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5213"">5213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00850"">K00850</a>]
 (GSD9A) PHKA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5256"">5256</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD9B) PHKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5257"">5257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD9C) PHKG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5261"">5261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00871"">K00871</a>]
 (GSD9D) PHKA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5255"">5255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD10) PGAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5224"">5224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01834"">K01834</a>]
 (GSDXI/FBS) SLC2A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6514"">6514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07593"">K07593</a>]
 (GSD11) LDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3939"">3939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00016"">K00016</a>]
 (GSD12) ALDOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:226"">226</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01623"">K01623</a>]
 (GSD13) ENO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2027"">2027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01689"">K01689</a>]
 (GSD14) PGM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5236"">5236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01835"">K01835</a>]
 (GSD15) GYG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2992"">2992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00750"">K00750</a>]
 (GSDH) PRKAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51422"">51422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07200"">K07200</a>]
 (GSD0A) GYS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2998"">2998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]
 (GSD0B) GYS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2997"">2997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]",,,,,"Additional genes for phosphorylase kinase, which activates glycogen phosphorylase, may also be involved.","ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006008"">D006008</a>
 OMIM: <a href=""https://www.omim.org/entry/232200"">232200</a> <a href=""https://www.omim.org/entry/232220"">232220</a> <a href=""https://www.omim.org/entry/232240"">232240</a> <a href=""https://www.omim.org/entry/232300"">232300</a> <a href=""https://www.omim.org/entry/232400"">232400</a> <a href=""https://www.omim.org/entry/232500"">232500</a> <a href=""https://www.omim.org/entry/232600"">232600</a> <a href=""https://www.omim.org/entry/232700"">232700</a> <a href=""https://www.omim.org/entry/232800"">232800</a> <a href=""https://www.omim.org/entry/306000"">306000</a> <a href=""https://www.omim.org/entry/261750"">261750</a> <a href=""https://www.omim.org/entry/613027"">613027</a> <a href=""https://www.omim.org/entry/300559"">300559</a> <a href=""https://www.omim.org/entry/261670"">261670</a> <a href=""https://www.omim.org/entry/227810"">227810</a> <a href=""https://www.omim.org/entry/612933"">612933</a> <a href=""https://www.omim.org/entry/611881"">611881</a> <a href=""https://www.omim.org/entry/612932"">612932</a> <a href=""https://www.omim.org/entry/612934"">612934</a> <a href=""https://www.omim.org/entry/613507"">613507</a> <a href=""https://www.omim.org/entry/261740"">261740</a> <a href=""https://www.omim.org/entry/240600"">240600</a> <a href=""https://www.omim.org/entry/611556"">611556</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17552001"">17552001</a>
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:<a href=""https://doi.org/10.3748/wjg.v13.i18.2541"">10.3748/wjg.v13.i18.2541</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17027861"">17027861</a>
 著者        Shin YS
 タイトル      Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
 雑誌        Semin Pediatr Neurol 13:115-20 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2006.06.007"">10.1016/j.spen.2006.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949931"">11949931</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/I)"">I)</a>
 著者        Chou JY, Matern D, Mansfield BC, Chen YT
 タイトル      Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
 雑誌        Curr Mol Med 2:121-43 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605798"">10.2174/1566524024605798</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949932"">11949932</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/II)"">II)</a>
 著者        Raben N, Plotz P, Byrne BJ
 タイトル      Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
 雑誌        Curr Mol Med 2:145-66 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605789"">10.2174/1566524024605789</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949933"">11949933</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/III)"">III)</a>
 著者        Shen JJ, Chen YT
 タイトル      Molecular characterization of glycogen storage disease type III.
 雑誌        Curr Mol Med 2:167-75 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605752"">10.2174/1566524024605752</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949934"">11949934</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IV)"">IV)</a>
 著者        Moses SW, Parvari R
 タイトル      The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
 雑誌        Curr Mol Med 2:177-88 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605815"">10.2174/1566524024605815</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949935"">11949935</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/V)"">V)</a>
 著者        Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM
 タイトル      Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
 雑誌        Curr Mol Med 2:189-96 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605770"">10.2174/1566524024605770</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8655128"">8655128</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IX)"">IX)</a>
 著者        Hendrickx J, Willems PJ
 タイトル      Genetic deficiencies of the glycogen phosphorylase system.
 雑誌        Hum Genet 97:551-6 (1996)
 DOI:<a href=""https://doi.org/10.1007/BF02281858"">10.1007/BF02281858</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11949937"">11949937</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XI)"">XI)</a>
 著者        Santer R, Steinmann B, Schaub J
 タイトル      Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
 雑誌        Curr Mol Med 2:213-27 (2002)
 DOI:<a href=""https://doi.org/10.2174/1566524024605743"">10.2174/1566524024605743</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16337419"">16337419</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/0)"">0)</a>
 著者        Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI
 タイトル      Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
 雑誌        Mol Genet Metab 87:284-8 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.10.006"">10.1016/j.ymgme.2005.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8447317"">8447317</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/X)"">X)</a>
 著者        Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
 タイトル      The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
 雑誌        Am J Hum Genet 52:472-7 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2334430"">2334430</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XI)"">XI)</a>
 著者        Maekawa M, Sudo K, Kanno T, Li SS
 タイトル      Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
 雑誌        Biochem Biophys Res Commun 168:677-82 (1990)
 DOI:<a href=""https://doi.org/10.1016/0006-291X(90)92374-9"">10.1016/0006-291X(90)92374-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8598869"">8598869</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XII)"">XII)</a>
 著者        Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
 タイトル      Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
 雑誌        N Engl J Med 334:1100-4 (1996)
 DOI:<a href=""https://doi.org/10.1056/NEJM199604253341705"">10.1056/NEJM199604253341705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11506403"">11506403</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XIII)"">XIII)</a>
 著者        Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
 タイトル      Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
 雑誌        Ann Neurol 50:202-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/ana.1095"">10.1002/ana.1095</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19625727"">19625727</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XIV)"">XIV)</a>
 著者        Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
 タイトル      Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 361:425-7 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMc0901158"">10.1056/NEJMc0901158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20357282"">20357282</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/XV)"">XV)</a>
 著者        Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
 タイトル      Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
 雑誌        N Engl J Med 362:1203-10 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900661"">10.1056/NEJMoa0900661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15877279"">15877279</a> (GSD <a href=""https://pubmed.ncbi.nlm.nih.gov/of"">of</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Heart)"">Heart)</a>
 著者        Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
 タイトル      Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
 雑誌        Am J Hum Genet 76:1034-49 (2005)
 DOI:<a href=""https://doi.org/10.1086/430840"">10.1086/430840</a>"
H00070,"ガラクトース血症
 下位グループ    ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 [DS:H02008]
 ガラクトキナーゼ欠損症 [DS:H02009]
 ガラクトースエピメラーゼ欠損症 [DS:H02010]",,,"Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.",先天性代謝異常症,nt06023  Galactose degradation,"(GALAC1) GALT [HSA:2592] [KO:K00965]
 (GALAC2) GALK1 [HSA:2584] [KO:K00849]
 (GALAC3) GALE [HSA:2582] [KO:K01784]
 (GALAC4) GALM [HSA:130589] [KO:K01785]",,,,,Galactosemia is routinely detected by a newborn screening test.,"ICD-11: 5C51.4
 ICD-10: E74.2
 MeSH: D005693
 OMIM: 230400 230200 230350 618881","PMID:17001680
 著者        Fridovich-Keil JL
 タイトル      Galactosemia: the good, the bad, and the unknown.
 雑誌        J Cell Physiol 209:701-5 (2006)
 DOI:10.1002/jcp.20820
 PMID:16838075
 著者        Bosch AM
 タイトル      Classical galactosaemia revisited.
 雑誌        J Inherit Metab Dis 29:516-25 (2006)
 DOI:10.1007/s10545-006-0382-0
 PMID:9012409 (GALT)
 著者        Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ
 タイトル      Molecular basis for Duarte and Los Angeles variant galactosemia.
 雑誌        Am J Hum Genet 60:366-72 (1997)
 PMID:7670469 (GALK1)
 著者        Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ
 タイトル      Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
 雑誌        Nat Genet 10:307-12 (1995)
 DOI:10.1038/ng0795-307
 PMID:9973283 (GALE)
 著者        Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL
 タイトル      Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
 雑誌        Am J Hum Genet 64:462-70 (1999)
 DOI:10.1086/302263
 PMID:30451973 (GALM)
 著者        Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S
 タイトル      Biallelic GALM pathogenic variants cause a novel type of galactosemia.
 雑誌        Genet Med 21:1286-1294 (2019)
 DOI:10.1038/s41436-018-0340-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00070"">H00070</a>","ガラクトース血症
 下位グループ    ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02008"">H02008</a>]
 ガラクトキナーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02009"">H02009</a>]
 ガラクトースエピメラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02010"">H02010</a>]","Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.","<a href=""https://www.kegg.jp/network/nt06023"">nt06023</a>  Galactose degradation","(GALAC1) GALT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2592"">2592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00965"">K00965</a>]
 (GALAC2) GALK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2584"">2584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00849"">K00849</a>]
 (GALAC3) GALE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2582"">2582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01784"">K01784</a>]
 (GALAC4) GALM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:130589"">130589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01785"">K01785</a>]",,,,,Galactosemia is routinely detected by a newborn screening test.,"ICD-11: 5C51.4
 ICD-10: E74.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005693"">D005693</a>
 OMIM: <a href=""https://www.omim.org/entry/230400"">230400</a> <a href=""https://www.omim.org/entry/230200"">230200</a> <a href=""https://www.omim.org/entry/230350"">230350</a> <a href=""https://www.omim.org/entry/618881"">618881</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17001680"">17001680</a>
 著者        Fridovich-Keil JL
 タイトル      Galactosemia: the good, the bad, and the unknown.
 雑誌        J Cell Physiol 209:701-5 (2006)
 DOI:<a href=""https://doi.org/10.1002/jcp.20820"">10.1002/jcp.20820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16838075"">16838075</a>
 著者        Bosch AM
 タイトル      Classical galactosaemia revisited.
 雑誌        J Inherit Metab Dis 29:516-25 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10545-006-0382-0"">10.1007/s10545-006-0382-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9012409"">9012409</a> (GALT)
 著者        Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ
 タイトル      Molecular basis for Duarte and Los Angeles variant galactosemia.
 雑誌        Am J Hum Genet 60:366-72 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7670469"">7670469</a> (GALK1)
 著者        Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ
 タイトル      Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
 雑誌        Nat Genet 10:307-12 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0795-307"">10.1038/ng0795-307</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9973283"">9973283</a> (GALE)
 著者        Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL
 タイトル      Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
 雑誌        Am J Hum Genet 64:462-70 (1999)
 DOI:<a href=""https://doi.org/10.1086/302263"">10.1086/302263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30451973"">30451973</a> (GALM)
 著者        Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S
 タイトル      Biallelic GALM pathogenic variants cause a novel type of galactosemia.
 雑誌        Genet Med 21:1286-1294 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0340-x"">10.1038/s41436-018-0340-x</a>"
H00071,フルクトース血症,,,"Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P (two three-carbon compounds).",先天性代謝異常症,,ALDOB; aldolase B [HSA:229] [KO:K01623],,,,,,"ICD-11: 5C51.50
 ICD-10: E74.1
 MeSH: D005633
 OMIM: 229600","PMID:16086449
 著者        Wong D
 タイトル      Hereditary fructose intolerance.
 雑誌        Mol Genet Metab 85:165-7 (2005)
 DOI:10.1016/j.ymgme.2005.05.001
 PMID:9610797
 著者        Ali M, Rellos P, Cox TM
 タイトル      Hereditary fructose intolerance.
 雑誌        J Med Genet 35:353-65 (1998)
 DOI:10.1136/jmg.35.5.353","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00071"">H00071</a>",フルクトース血症,"Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P (two three-carbon compounds).",,"ALDOB; aldolase B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:229"">229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01623"">K01623</a>]",,,,,,"ICD-11: 5C51.50
 ICD-10: E74.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005633"">D005633</a>
 OMIM: <a href=""https://www.omim.org/entry/229600"">229600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16086449"">16086449</a>
 著者        Wong D
 タイトル      Hereditary fructose intolerance.
 雑誌        Mol Genet Metab 85:165-7 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.05.001"">10.1016/j.ymgme.2005.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9610797"">9610797</a>
 著者        Ali M, Rellos P, Cox TM
 タイトル      Hereditary fructose intolerance.
 雑誌        J Med Genet 35:353-65 (1998)
 DOI:<a href=""https://doi.org/10.1136/jmg.35.5.353"">10.1136/jmg.35.5.353</a>"
H00072,"ピルビン酸脱水素酵素複合体欠損症
 下位グループ    ピルビン酸脱水素酵素 E1α 欠損症 [DS:H01997]
 ピルビン酸脱水素酵素 E1β 欠損症 [DS:H01998]
 ピルビン酸脱水素酵素 E2 欠損症 [DS:H01999]
 ジヒドロリポアミド脱水素酵素欠損症 [DS:H02000]
 ピルビン酸脱水素酵素ホスファターゼ欠損症 [DS:H01996]
 ピルビン酸脱水素酵素 E3 結合タンパク欠損症 [DS:H02003]",,,"Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core.",先天性代謝異常症,,"PDHA1; pyruvate dehydrogenase E1 component subunit alpha 1 [HSA:5160] [KO:K00161]
 PDHB; pyruvate dehydrogenase E1 component subunit beta [HSA:5162] [KO:K00162]
 DLAT; pyruvate dehydrogenase E2 component, dihydrolipoamide acetyltransferase [HSA:1737] [KO:K00627]
 DLD; dihydrolipoamide dehydrogenase [HSA:1738] [KO:K00382]
 PDHX; pyruvate dehydrogenase complex component X [HSA:8050] [KO:K13997]
 PPM2C; pyruvate dehyrogenase phosphatase catalytic subunit 1 [HSA:54704] [KO:K01102]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: D015325
 OMIM: 312170 614111 245348 246900 245349 608782","PMID:16854608
 著者        Robinson BH
 タイトル      Lactic acidemia and mitochondrial disease.
 雑誌        Mol Genet Metab 89:3-13 (2006)
 DOI:10.1016/j.ymgme.2006.05.015
 PMID:16843025
 著者        Mine M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C
 タイトル      A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
 雑誌        Mol Genet Metab 89:106-10 (2006)
 DOI:10.1016/j.ymgme.2006.06.002
 PMID:16156009
 著者        Pithukpakorn M
 タイトル      Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
 雑誌        Mol Genet Metab 85:243-6 (2005)
 DOI:10.1016/j.ymgme.2005.06.006
 PMID:12925875
 著者        Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J
 タイトル      Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
 雑誌        Eur J Pediatr 162:714-8 (2003)
 DOI:10.1007/s00431-003-1282-z
 PMID:10679936
 著者        Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A
 タイトル      Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
 雑誌        Hum Mutat 15:209-19 (2000)
 DOI:10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
 PMID:7853374
 著者        Brown GK, Otero LJ, LeGris M, Brown RM
 タイトル      Pyruvate dehydrogenase deficiency.
 雑誌        J Med Genet 31:875-9 (1994)
 DOI:10.1136/jmg.31.11.875
 PMID:16574315
 著者        Maj MC, Cameron JM, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
 雑誌        Mol Cell Endocrinol 249:1-9 (2006)
 DOI:10.1016/j.mce.2006.02.003
 PMID:12529507
 著者        Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
 タイトル      Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
 雑誌        Proc Natl Acad Sci U S A 100:605-10 (2003)
 DOI:10.1073/pnas.242716699
 PMID:9399911
 著者        Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
 タイトル      Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
 雑誌        Am J Hum Genet 61:1318-26 (1997)
 DOI:10.1086/301653","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>","ピルビン酸脱水素酵素複合体欠損症
 下位グループ    ピルビン酸脱水素酵素 E1α 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01997"">H01997</a>]
 ピルビン酸脱水素酵素 E1β 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01998"">H01998</a>]
 ピルビン酸脱水素酵素 E2 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01999"">H01999</a>]
 ジヒドロリポアミド脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02000"">H02000</a>]
 ピルビン酸脱水素酵素ホスファターゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01996"">H01996</a>]
 ピルビン酸脱水素酵素 E3 結合タンパク欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02003"">H02003</a>]","Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core.",,"PDHA1; pyruvate dehydrogenase E1 component subunit alpha 1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5160"">5160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00161"">K00161</a>]
 PDHB; pyruvate dehydrogenase E1 component subunit beta [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5162"">5162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00162"">K00162</a>]
 DLAT; pyruvate dehydrogenase E2 component, dihydrolipoamide acetyltransferase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1737"">1737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00627"">K00627</a>]
 DLD; dihydrolipoamide dehydrogenase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1738"">1738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00382"">K00382</a>]
 PDHX; pyruvate dehydrogenase complex component X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8050"">8050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13997"">K13997</a>]
 PPM2C; pyruvate dehyrogenase phosphatase catalytic subunit 1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54704"">54704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01102"">K01102</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015325"">D015325</a>
 OMIM: <a href=""https://www.omim.org/entry/312170"">312170</a> <a href=""https://www.omim.org/entry/614111"">614111</a> <a href=""https://www.omim.org/entry/245348"">245348</a> <a href=""https://www.omim.org/entry/246900"">246900</a> <a href=""https://www.omim.org/entry/245349"">245349</a> <a href=""https://www.omim.org/entry/608782"">608782</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854608"">16854608</a>
 著者        Robinson BH
 タイトル      Lactic acidemia and mitochondrial disease.
 雑誌        Mol Genet Metab 89:3-13 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.05.015"">10.1016/j.ymgme.2006.05.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16843025"">16843025</a>
 著者        Mine M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C
 タイトル      A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
 雑誌        Mol Genet Metab 89:106-10 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.06.002"">10.1016/j.ymgme.2006.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16156009"">16156009</a>
 著者        Pithukpakorn M
 タイトル      Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
 雑誌        Mol Genet Metab 85:243-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.06.006"">10.1016/j.ymgme.2005.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12925875"">12925875</a>
 著者        Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J
 タイトル      Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
 雑誌        Eur J Pediatr 162:714-8 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00431-003-1282-z"">10.1007/s00431-003-1282-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10679936"">10679936</a>
 著者        Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A
 タイトル      Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
 雑誌        Hum Mutat 15:209-19 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200003)15:"">10.1002/(SICI)1098-1004(200003)15:</a><a href=""https://doi.org/3<209:"">3<209:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-K"">AID-HUMU1>3.0.CO;2-K</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7853374"">7853374</a>
 著者        Brown GK, Otero LJ, LeGris M, Brown RM
 タイトル      Pyruvate dehydrogenase deficiency.
 雑誌        J Med Genet 31:875-9 (1994)
 DOI:<a href=""https://doi.org/10.1136/jmg.31.11.875"">10.1136/jmg.31.11.875</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16574315"">16574315</a>
 著者        Maj MC, Cameron JM, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
 雑誌        Mol Cell Endocrinol 249:1-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2006.02.003"">10.1016/j.mce.2006.02.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12529507"">12529507</a>
 著者        Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
 タイトル      Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
 雑誌        Proc Natl Acad Sci U S A 100:605-10 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.242716699"">10.1073/pnas.242716699</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9399911"">9399911</a>
 著者        Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
 タイトル      Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
 雑誌        Am J Hum Genet 61:1318-26 (1997)
 DOI:<a href=""https://doi.org/10.1086/301653"">10.1086/301653</a>"
H00073,"ピルビン酸カルボキシラーゼ欠損症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate.",先天代謝異常症,,PC; pyruvate carboxylase [HSA:5091] [KO:K01958],,,,,,"ICD-11: 5C53.03
 ICD-10: E74.4
 MeSH: D015324
 OMIM: 266150","PMID:18676167
 著者        Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC
 タイトル      The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
 雑誌        Mol Genet Metab 95:31-8 (2008)
 DOI:10.1016/j.ymgme.2008.06.006
 PMID:16156009
 著者        Pithukpakorn M
 タイトル      Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
 雑誌        Mol Genet Metab 85:243-6 (2005)
 DOI:10.1016/j.ymgme.2005.06.006
 PMID:12597053
 著者        De Meirleir L
 タイトル      Defects of pyruvate metabolism and the Krebs cycle.
 雑誌        J Child Neurol 17 Suppl 3:3S26-33; discussion 3S33-4 (2002)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00073"">H00073</a>","ピルビン酸カルボキシラーゼ欠損症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate.",,"PC; pyruvate carboxylase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5091"">5091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01958"">K01958</a>]",,,,,,"ICD-11: 5C53.03
 ICD-10: E74.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015324"">D015324</a>
 OMIM: <a href=""https://www.omim.org/entry/266150"">266150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18676167"">18676167</a>
 著者        Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC
 タイトル      The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
 雑誌        Mol Genet Metab 95:31-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2008.06.006"">10.1016/j.ymgme.2008.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16156009"">16156009</a>
 著者        Pithukpakorn M
 タイトル      Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
 雑誌        Mol Genet Metab 85:243-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.06.006"">10.1016/j.ymgme.2005.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12597053"">12597053</a>
 著者        De Meirleir L
 タイトル      Defects of pyruvate metabolism and the Krebs cycle.
 雑誌        J Child Neurol 17 Suppl 3:3S26-33; discussion 3S33-4 (2002)"
H00074,カナバン病,,,"Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.",先天代謝異常症; 神経変性疾患,,ASPA; aspartoacylase [HSA:443] [KO:K01437],,,,,"Disease class: leukodystrophy
 Affected region: cerebral white matter
 Microscopic lesion: accumulation of a chemical called N-acetyl-aspartic acid (NAA) and degeneration of myelin","ICD-11: 5C50.E1
 ICD-10: E75.2
 MeSH: D017825
 OMIM: 271900","PMID:19319678
 著者        Baslow MH, Guilfoyle DN
 タイトル      Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?
 雑誌        Neurochem Res 34:1523-34 (2009)
 DOI:10.1007/s11064-009-9958-z
 PMID:17391648
 著者        Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA
 タイトル      Mutational analysis of aspartoacylase: implications for Canavan disease.
 雑誌        Brain Res 1148:1-14 (2007)
 DOI:10.1016/j.brainres.2007.02.069
 PMID:16807907
 著者        Kumar S, Mattan NS, de Vellis J.
 タイトル      Canavan disease: a white matter disorder.
 雑誌        Ment Retard Dev Disabil Res Rev 12:157-65 (2006)
 DOI:10.1002/mrdd.20108
 PMID:16647192
 著者        Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN
 タイトル      Canavan disease and the role of N-acetylaspartate in myelin synthesis.
 雑誌        Mol Cell Endocrinol 252:216-23 (2006)
 DOI:10.1016/j.mce.2006.03.016
 PMID:14567959
 著者        Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R
 タイトル      Canavan disease: a monogenic trait with complex genomic interaction.
 雑誌        Mol Genet Metab 80:74-80 (2003)
 DOI:10.1016/j.ymgme.2003.08.015
 PMID:12638939
 著者        Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH
 タイトル      Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
 雑誌        J Inherit Metab Dis 25:557-70 (2002)
 DOI:10.1023/A:1022091223498
 PMID:8252036
 著者        Kaul R, Gao GP, Balamurugan K, Matalon R
 タイトル      Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
 雑誌        Nat Genet 5:118-23 (1993)
 DOI:10.1038/ng1093-118","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00074"">H00074</a>",カナバン病,"Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.",,"ASPA; aspartoacylase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:443"">443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01437"">K01437</a>]",,,,,"Disease class: leukodystrophy
 Affected region: cerebral white matter
 Microscopic lesion: accumulation of a chemical called N-acetyl-aspartic acid (NAA) and degeneration of myelin","ICD-11: 5C50.E1
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017825"">D017825</a>
 OMIM: <a href=""https://www.omim.org/entry/271900"">271900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19319678"">19319678</a>
 著者        Baslow MH, Guilfoyle DN
 タイトル      Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?
 雑誌        Neurochem Res 34:1523-34 (2009)
 DOI:<a href=""https://doi.org/10.1007/s11064-009-9958-z"">10.1007/s11064-009-9958-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17391648"">17391648</a>
 著者        Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA
 タイトル      Mutational analysis of aspartoacylase: implications for Canavan disease.
 雑誌        Brain Res 1148:1-14 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.brainres.2007.02.069"">10.1016/j.brainres.2007.02.069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16807907"">16807907</a>
 著者        Kumar S, Mattan NS, de Vellis J.
 タイトル      Canavan disease: a white matter disorder.
 雑誌        Ment Retard Dev Disabil Res Rev 12:157-65 (2006)
 DOI:<a href=""https://doi.org/10.1002/mrdd.20108"">10.1002/mrdd.20108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16647192"">16647192</a>
 著者        Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN
 タイトル      Canavan disease and the role of N-acetylaspartate in myelin synthesis.
 雑誌        Mol Cell Endocrinol 252:216-23 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2006.03.016"">10.1016/j.mce.2006.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14567959"">14567959</a>
 著者        Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R
 タイトル      Canavan disease: a monogenic trait with complex genomic interaction.
 雑誌        Mol Genet Metab 80:74-80 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2003.08.015"">10.1016/j.ymgme.2003.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12638939"">12638939</a>
 著者        Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH
 タイトル      Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
 雑誌        J Inherit Metab Dis 25:557-70 (2002)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1022091223498"">1022091223498</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8252036"">8252036</a>
 著者        Kaul R, Gao GP, Balamurugan K, Matalon R
 タイトル      Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
 雑誌        Nat Genet 5:118-23 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng1093-118"">10.1038/ng1093-118</a>"
H00075,"レフスム病;
 多発神経炎型遺伝性失調症",,,"Refsum disease (RD) is an autosomal recessive sensory motor neuropathy charactarized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an increased number of cells. The age at which symptoms first present in RD can be variable although most cases present in adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible for some, but not all, cases of Refsum's disease. Peroxisomal PHYH import occurs via PEX7 which is the peroxisomal matrix protein receptor. Though PEX7 has been identified another responsible gene, there still remain a small number of patients in whom no mutations in either of these two genes can be found.",神経変性疾患; 先天性代謝異常症; ペルオキシソーム病,,"PHYH [HSA:5264] [KO:K00477]
 PEX7 [HSA:5191] [KO:K13341]",,,,,,"ICD-11: 5C57.1
 ICD-10: G60.1
 MeSH: D012035
 OMIM: 266500 614879","PMID:17956237
 著者        Wierzbicki AS
 タイトル      Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.
 雑誌        Biochem Soc Trans 35:881-6 (2007)
 DOI:10.1042/BST0350881
 PMID:17956234
 著者        Wanders RJ, Komen JC
 タイトル      Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid.
 雑誌        Biochem Soc Trans 35:865-9 (2007)
 DOI:10.1042/BST0350865
 PMID:12633678 (PHYH)
 著者        Wanders RJ, Jansen GA, Lloyd MD
 タイトル      Phytanic acid alpha-oxidation, new insights into an old problem: a review.
 雑誌        Biochim Biophys Acta 1631:119-35 (2003)
 DOI:10.1016/S1388-1981(03)00003-9
 PMID:14974078 (PEX7)
 著者        Jansen GA, Waterham HR, Wanders RJ.
 タイトル      Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
 雑誌        Hum Mutat 23:209-18 (2004)
 DOI:10.1002/humu.10315","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00075"">H00075</a>","レフスム病;
 多発神経炎型遺伝性失調症","Refsum disease (RD) is an autosomal recessive sensory motor neuropathy charactarized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an increased number of cells. The age at which symptoms first present in RD can be variable although most cases present in adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible for some, but not all, cases of Refsum's disease. Peroxisomal PHYH import occurs via PEX7 which is the peroxisomal matrix protein receptor. Though PEX7 has been identified another responsible gene, there still remain a small number of patients in whom no mutations in either of these two genes can be found.",,"PHYH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5264"">5264</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00477"">K00477</a>]
 PEX7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5191"">5191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13341"">K13341</a>]",,,,,,"ICD-11: 5C57.1
 ICD-10: G60.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012035"">D012035</a>
 OMIM: <a href=""https://www.omim.org/entry/266500"">266500</a> <a href=""https://www.omim.org/entry/614879"">614879</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17956237"">17956237</a>
 著者        Wierzbicki AS
 タイトル      Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.
 雑誌        Biochem Soc Trans 35:881-6 (2007)
 DOI:<a href=""https://doi.org/10.1042/BST0350881"">10.1042/BST0350881</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17956234"">17956234</a>
 著者        Wanders RJ, Komen JC
 タイトル      Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid.
 雑誌        Biochem Soc Trans 35:865-9 (2007)
 DOI:<a href=""https://doi.org/10.1042/BST0350865"">10.1042/BST0350865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12633678"">12633678</a> (PHYH)
 著者        Wanders RJ, Jansen GA, Lloyd MD
 タイトル      Phytanic acid alpha-oxidation, new insights into an old problem: a review.
 雑誌        Biochim Biophys Acta 1631:119-35 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(03)00003-9"">10.1016/S1388-1981(03)00003-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14974078"">14974078</a> (PEX7)
 著者        Jansen GA, Waterham HR, Wanders RJ.
 タイトル      Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
 雑誌        Hum Mutat 23:209-18 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.10315"">10.1002/humu.10315</a>"
H00076,"コケイン症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:H00403]",,,"Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription.",神経変性疾患,,"(CSA) ERCC8 [HSA:1161] [KO:K10570]
 (CSB) ERCC6 [HSA:2074] [KO:K10841]
 (XPB/CS) ERCC3 [HSA:2071] [KO:K10843]
 (XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
 (XPG/CS) ERCC5 [HSA:2073] [KO:K10846]",,,,,"Affected region: cerebral cortex, cerebellum, basal ganglia
 Microscopic lesion: accumulate of DNA lesions, tigroid-type demyelination, multifocal calcium deposition","ICD-11: LD2B
 ICD-10: Q87.1
 MeSH: D003057
 OMIM: 216400 133540 610651 278780","PMID:17603927
 著者        Frosina G.
 タイトル      The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
 雑誌        Free Radic Biol Med 43:165-77 (2007)
 DOI:10.1016/j.freeradbiomed.2007.04.001
 PMID:17084038 (ERCC8)
 著者        Kleppa L, Kanavin OJ, Klungland A, Stromme P
 タイトル      A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
 雑誌        Neuroscience 145:1397-406 (2007)
 DOI:10.1016/j.neuroscience.2006.09.025
 PMID:14639525 (ERCC6)
 著者        Licht CL, Stevnsner T, Bohr VA
 タイトル      Cockayne syndrome group B cellular and biochemical functions.
 雑誌        Am J Hum Genet 73:1217-39 (2003)
 DOI:10.1086/380399
 PMID:16947863 (ERCC3)
 著者        Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH
 タイトル      Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
 雑誌        Hum Mutat 27:1092-103 (2006)
 DOI:10.1002/humu.20392
 PMID:23623389 (ERCC4)
 著者        Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T
 タイトル      Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
 雑誌        Am J Hum Genet 92:807-19 (2013)
 DOI:10.1016/j.ajhg.2013.04.007
 PMID:8317483 (ERCC5)
 著者        Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH
 タイトル      Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
 雑誌        Am J Hum Genet 53:185-92 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076"">H00076</a>","コケイン症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>]","Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription.",,"(CSA) ERCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1161"">1161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10570"">K10570</a>]
 (CSB) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (XPB/CS) ERCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2071"">2071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10843"">K10843</a>]
 (XPF/CS) ERCC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2072"">2072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10848"">K10848</a>]
 (XPG/CS) ERCC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2073"">2073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10846"">K10846</a>]",,,,,"Affected region: cerebral cortex, cerebellum, basal ganglia
 Microscopic lesion: accumulate of DNA lesions, tigroid-type demyelination, multifocal calcium deposition","ICD-11: LD2B
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003057"">D003057</a>
 OMIM: <a href=""https://www.omim.org/entry/216400"">216400</a> <a href=""https://www.omim.org/entry/133540"">133540</a> <a href=""https://www.omim.org/entry/610651"">610651</a> <a href=""https://www.omim.org/entry/278780"">278780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17603927"">17603927</a>
 著者        Frosina G.
 タイトル      The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
 雑誌        Free Radic Biol Med 43:165-77 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.freeradbiomed.2007.04.001"">10.1016/j.freeradbiomed.2007.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17084038"">17084038</a> (ERCC8)
 著者        Kleppa L, Kanavin OJ, Klungland A, Stromme P
 タイトル      A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
 雑誌        Neuroscience 145:1397-406 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.neuroscience.2006.09.025"">10.1016/j.neuroscience.2006.09.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14639525"">14639525</a> (ERCC6)
 著者        Licht CL, Stevnsner T, Bohr VA
 タイトル      Cockayne syndrome group B cellular and biochemical functions.
 雑誌        Am J Hum Genet 73:1217-39 (2003)
 DOI:<a href=""https://doi.org/10.1086/380399"">10.1086/380399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16947863"">16947863</a> (ERCC3)
 著者        Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH
 タイトル      Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
 雑誌        Hum Mutat 27:1092-103 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20392"">10.1002/humu.20392</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23623389"">23623389</a> (ERCC4)
 著者        Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T
 タイトル      Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
 雑誌        Am J Hum Genet 92:807-19 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.007"">10.1016/j.ajhg.2013.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8317483"">8317483</a> (ERCC5)
 著者        Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH
 タイトル      Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
 雑誌        Am J Hum Genet 53:185-92 (1993)"
H00077,"進行性核上性麻痺
 上位グループ    前頭側頭葉変性症 [DS:H00078]",,,"Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.",神経変性疾患,,MAPT; microtubule-associated protein tau (mutation) [HSA:4137] [KO:K04380],,,,,"Disease class: tauopathy
 Affected region: basal ganglia, brain stem, cerebellum
 Microscopic lesion: tau positive inclusions","ICD-11: 8A00.10
 ICD-10: G23.1
 MeSH: D013494
 OMIM: 601104 260540","PMID:19233037
 著者        Williams DR, Lees AJ
 タイトル      Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.
 雑誌        Lancet Neurol 8:270-9 (2009)
 DOI:10.1016/S1474-4422(09)70042-0
 PMID:18267262
 著者        Houghton DJ, Litvan I
 タイトル      Unraveling progressive supranuclear palsy: from the bedside back to the bench.
 雑誌        Parkinsonism Relat Disord 13 Suppl 3:S341-6 (2007)
 DOI:10.1016/S1353-8020(08)70028-2
 PMID:17493041
 著者        Dickson DW, Rademakers R, Hutton ML.
 タイトル      Progressive supranuclear palsy: pathology and genetics.
 雑誌        Brain Pathol 17:74-82 (2007)
 DOI:10.1111/j.1750-3639.2007.00054.x
 PMID:12151839
 著者        Pastor P, Tolosa E
 タイトル      Progressive supranuclear palsy: clinical and genetic aspects.
 雑誌        Curr Opin Neurol 15:429-37 (2002)
 DOI:10.1097/00019052-200208000-00005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00077"">H00077</a>","進行性核上性麻痺
 上位グループ    前頭側頭葉変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00078"">H00078</a>]","Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.",,"MAPT; microtubule-associated protein tau (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4137"">4137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04380"">K04380</a>]",,,,,"Disease class: tauopathy
 Affected region: basal ganglia, brain stem, cerebellum
 Microscopic lesion: tau positive inclusions","ICD-11: 8A00.10
 ICD-10: G23.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013494"">D013494</a>
 OMIM: <a href=""https://www.omim.org/entry/601104"">601104</a> <a href=""https://www.omim.org/entry/260540"">260540</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19233037"">19233037</a>
 著者        Williams DR, Lees AJ
 タイトル      Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.
 雑誌        Lancet Neurol 8:270-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(09)70042-0"">10.1016/S1474-4422(09)70042-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18267262"">18267262</a>
 著者        Houghton DJ, Litvan I
 タイトル      Unraveling progressive supranuclear palsy: from the bedside back to the bench.
 雑誌        Parkinsonism Relat Disord 13 Suppl 3:S341-6 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1353-8020(08)70028-2"">10.1016/S1353-8020(08)70028-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17493041"">17493041</a>
 著者        Dickson DW, Rademakers R, Hutton ML.
 タイトル      Progressive supranuclear palsy: pathology and genetics.
 雑誌        Brain Pathol 17:74-82 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1750-3639.2007.00054.x"">10.1111/j.1750-3639.2007.00054.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12151839"">12151839</a>
 著者        Pastor P, Tolosa E
 タイトル      Progressive supranuclear palsy: clinical and genetic aspects.
 雑誌        Curr Opin Neurol 15:429-37 (2002)
 DOI:<a href=""https://doi.org/10.1097/00019052-200208000-00005"">10.1097/00019052-200208000-00005</a>"
H00078,"前頭側頭葉変性症
 下位グループ    ピック病
 前頭側頭型認知症 (FTD)
 ユビキチン陽性封入体を伴う前頭側頭葉変性症 (FTLDU)
 進行性核上性麻痺 (PSNP) [DS:H00077]
 骨パジェット病および前頭側頭型認知症をともなう封入体ミオパチー [DS:H02031]
 前頭側頭型認知症および筋萎縮性側索硬化症 [DS:H02342]",,,"Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.",神経変性疾患,,"(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380]
 (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
 (FTLDU) GRN [HSA:2896] [KO:K23879]",,,,,"Disease class: tauopathy
 Affected region: frontal lobe, temporal lobe
 Microscopic lesion: Pick bodies","ICD-11: 8A23
 ICD-10: G31.0
 MeSH: D057174
 OMIM: 172700 600274 607485","PMID:19638255 (MAPT, PSEN1, GRN)
 著者        Neumann M, Tolnay M, Mackenzie IR
 タイトル      The molecular basis of frontotemporal dementia.
 雑誌        Expert Rev Mol Med 11:e23 (2009)
 DOI:10.1017/S1462399409001136
 PMID:30158706 (MAPT)
 著者        Falcon B, Zhang W, Murzin AG, Murshudov G, Garringer HJ, Vidal R, Crowther RA, Ghetti B, Scheres SHW, Goedert M
 タイトル      Structures of filaments from Pick's disease reveal a novel tau protein fold.
 雑誌        Nature 561:137-140 (2018)
 DOI:10.1038/s41586-018-0454-y
 PMID:23489366 (PSEN1)
 著者        Riudavets MA, Bartoloni L, Troncoso JC, Pletnikova O, St George-Hyslop P, Schultz M, Sevlever G, Allegri RF
 タイトル      Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.
 雑誌        Brain Pathol 23:595-600 (2013)
 DOI:10.1111/bpa.12051
 PMID:17278999 (GRN)
 著者        Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW
 タイトル      Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
 雑誌        J Neuropathol Exp Neurol 66:142-51 (2007)
 DOI:10.1097/nen.0b013e31803020cf","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00078"">H00078</a>","前頭側頭葉変性症
 下位グループ    ピック病
 前頭側頭型認知症 (FTD)
 ユビキチン陽性封入体を伴う前頭側頭葉変性症 (FTLDU)
 進行性核上性麻痺 (PSNP) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00077"">H00077</a>]
 骨パジェット病および前頭側頭型認知症をともなう封入体ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02031"">H02031</a>]
 前頭側頭型認知症および筋萎縮性側索硬化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02342"">H02342</a>]","Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.",,"(Pick disease/ FTD) MAPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4137"">4137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04380"">K04380</a>]
 (Pick disease/ FTD) PSEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5663"">5663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04505"">K04505</a>]
 (FTLDU) GRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2896"">2896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23879"">K23879</a>]",,,,,"Disease class: tauopathy
 Affected region: frontal lobe, temporal lobe
 Microscopic lesion: Pick bodies","ICD-11: 8A23
 ICD-10: G31.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057174"">D057174</a>
 OMIM: <a href=""https://www.omim.org/entry/172700"">172700</a> <a href=""https://www.omim.org/entry/600274"">600274</a> <a href=""https://www.omim.org/entry/607485"">607485</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19638255"">19638255</a> (MAPT, <a href=""https://pubmed.ncbi.nlm.nih.gov/PSEN1,"">PSEN1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GRN)"">GRN)</a>
 著者        Neumann M, Tolnay M, Mackenzie IR
 タイトル      The molecular basis of frontotemporal dementia.
 雑誌        Expert Rev Mol Med 11:e23 (2009)
 DOI:<a href=""https://doi.org/10.1017/S1462399409001136"">10.1017/S1462399409001136</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30158706"">30158706</a> (MAPT)
 著者        Falcon B, Zhang W, Murzin AG, Murshudov G, Garringer HJ, Vidal R, Crowther RA, Ghetti B, Scheres SHW, Goedert M
 タイトル      Structures of filaments from Pick's disease reveal a novel tau protein fold.
 雑誌        Nature 561:137-140 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41586-018-0454-y"">10.1038/s41586-018-0454-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23489366"">23489366</a> (PSEN1)
 著者        Riudavets MA, Bartoloni L, Troncoso JC, Pletnikova O, St George-Hyslop P, Schultz M, Sevlever G, Allegri RF
 タイトル      Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.
 雑誌        Brain Pathol 23:595-600 (2013)
 DOI:<a href=""https://doi.org/10.1111/bpa.12051"">10.1111/bpa.12051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17278999"">17278999</a> (GRN)
 著者        Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW
 タイトル      Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
 雑誌        J Neuropathol Exp Neurol 66:142-51 (2007)
 DOI:<a href=""https://doi.org/10.1097/nen.0b013e31803020cf"">10.1097/nen.0b013e31803020cf</a>"
H00079,"喘息
 下位グループ    喘息関連形質 (ASRT)",,,"Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of the antigen and activation by APC, naive T cells differentiate into TH2 cells. Activated TH2 stimulate the formation of IgE by B cells. IgE molecules bind to IgE receptors located on mast cells. The crosslinking of mast-cell-bound IgE by allergens leads to the release of biologically active mediators (histamine, leukotrienes) by means of degranulation and, so, to the immediate symptoms of allergy. Mast cells also release chemotactic factors that contribute to the recruitment of inflammatory cells, particularly eosinophils, whose proliferation and differentiation from bone marrow progenitors is promoted by IL-5. The activation of eosinophils leads to release of toxic granules and oxygen free radicals that lead to tissue damage and promote the development of chronic inflammation.",免疫系疾患,,"IL4 [HSA:3565] [KO:K05430]
 IL4RA [HSA:3566] [KO:K05071]
 IL13 [HSA:3596] [KO:K05435]
 FCER1B [HSA:2206] [KO:K08090]
 TNFA [HSA:7124] [KO:K03156]
 ADAM33 [HSA:80332] [KO:K08616]
 CD14 [HSA:929] [KO:K04391]
 HLA-DRB1 [HSA:3123] [KO:K06752]
 HLA-DQB1 [HSA:3119] [KO:K06752]
 HLA-G [HSA:3135] [KO:K06751]
 ADRB2 [HSA:154] [KO:K04142]
 ALOX5 [HSA:240] [KO:K00461]
 CCL11 [HSA:6356] [KO:K16597]
 MUC7 [HSA:4589] [KO:K13909]
 PLA2G7 [HSA:7941] [KO:K01062]
 SCGB3A2 [HSA:117156] [KO:K25469]
 (ASRT1) PTGDR [HSA:5729] [KO:K04332]
 (ASRT2) NPSR1 [HSA:387129] [KO:K08376]
 (ASRT5) IRAK3 [HSA:11213] [KO:K04732]
 (ASRT7) CHI3L1 [HSA:1116] [KO:K17523]",,"Particulate matter
 Diesel exhaust
 NO2 (nitrogen dioxide)
 Passive smoking/environmental tobacco smoke (ETS)
 Ozone
 Sulfur dioxide [CPD:C09306]",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 クロモグリク酸ナトリウム [DR:D00526]
 イブジラスト [DR:D01385]
 ケトチフェンフマル酸塩 [DR:D01332]
 エピナスチン塩酸塩 [DR:D01713]
 ペミロラストカリウム [DR:D01088]
 トラニラスト [DR:D02027]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 フルチカゾンフランカルボン酸エステル [DR:D06315]
 フルチカゾンプロピオン酸エステル [DR:D01708]
 dl-イソプレナリン塩酸塩 [DR:D01390]
 ジプロフィリン [DR:D00691]
 プロキシフィリン [DR:D01771]
 アミノフィリン水和物 [DR:D05429]
 ジプロフィリン・塩酸メトキシフェナミン・ノスカピン・クロルフェニラミンマレイン酸塩 [DR:D04296]
 アセチルシステイン [DR:D00221]
 L-カルボシステイン [DR:D00175]
 フドステイン [DR:D01845]
 アンブロキソール塩酸塩 [DR:D01479]
 エプラジノン塩酸塩 [DR:D01106]
 テオフィリン [DR:D00371]
 フェノテロール臭化水素酸塩 [DR:D01428]
 テルブタリン硫酸塩 [DR:D00688]
 サルブタモール硫酸塩 [DR:D00683]
 イプラトロピウム臭化物水和物 [DR:D02212]
 ツロブテロール塩酸塩 [DR:D01362]
 ツロブテロール [DR:D02151]
 サルメテロールキシナホ酸塩 [DR:D00687]
 クレンブテロール塩酸塩 [DR:D01360]
 プロカテロール塩酸塩水和物 [DR:D05366]
 チオトロピウム臭化物水和物 [DR:D01929]
 dl-メチルエフェドリン塩酸塩・ジプロフィリン [DR:D04342]
 ブデソニド [DR:D00246]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 シクレソニド [DR:D01703]
 サルメテロールキシナホ酸塩・フルチカゾンプロピオン酸エステル [DR:D08699]
 ブデソニド・ホルモテロールフマル酸塩水和物 [DR:D09595]
 フルチカゾンフランカルボン酸エステル・ビランテロールトリフェニル酢酸塩 [DR:D10501]
 フルチカゾンプロピオン酸エステル・ホルモテロールフマル酸塩水和物 [DR:D10506]
 インダカテロール酢酸塩・モメタゾンフランカルボン酸エステル [DR:D11862]
 フルチカゾンフランカルボン酸エステル・ウメクリジニウム臭化物・ビランテロール [DR:D11035]
 インダカテロール酢酸塩・グリコピロニウム臭化物・モメタゾンフランカルボン酸エステル [DR:D11861]
 オマリズマブ [DR:D05251]
 メポリズマブ [DR:D04923]
 ベンラリズマブ [DR:D09874]
 アドレナリン [DR:D00095]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ヨウ素レシチン [DR:D04944]
 メキタジン [DR:D01324]
 デュピルマブ [DR:D10354]
 アゼラスチン塩酸塩 [DR:D00659]
 プランルカスト水和物 [DR:D02732]
 モンテルカストナトリウム [DR:D00529]
 セラトロダスト [DR:D01123]
 オキサトミド [DR:D01773]
 アレルゲンエキス [DR:D08770]
 スプラタストトシル酸塩 [DR:D01423]
 オザグレル塩酸塩水和物 [DR:D01683]
 五虎湯 [DR:D06955]
 柴陥湯 [DR:D06961]
 柴朴湯エキス [DR:D06966]
 小柴胡湯エキス [DR:D06985]
 小青竜湯エキス [DR:D06987]
 神秘湯 [DR:D06994]
 大柴胡湯エキス [DR:D07004]
 大柴胡湯去大黄 [DR:D07005]
 麦門冬湯エキス [DR:D07030]
 半夏厚朴湯エキス [DR:D07032]
 麻黄湯エキス [DR:D07042]
 麻杏甘石湯 [DR:D07044]
 苓甘姜味辛夏仁湯 [DR:D07054]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:D08806]","Allergen:
 Furred pet (cat, dog)
 Dust mite
 Cockroach
 Rodent (rat, mouse)
 Mold
 Pollen (tree, grass, weed)","ICD-11: CA23
 ICD-10: J45
 MeSH: D001249
 OMIM: 600807 607277 608584 611064 611960","PMID:18446588
 著者        Warrier MR, Hershey GK.
 タイトル      Asthma genetics: personalizing medicine.
 雑誌        J Asthma 45:257-64 (2008)
 DOI:10.1080/02770900801966180
 PMID:11172168
 著者        Busse WW, Lemanske RF Jr.
 タイトル      Asthma.
 雑誌        N Engl J Med 344:350-62 (2001)
 DOI:10.1056/NEJM200102013440507
 PMID:18301422
 著者        Vercelli D.
 タイトル      Discovering susceptibility genes for asthma and allergy.
 雑誌        Nat Rev Immunol 8:169-82 (2008)
 DOI:10.1038/nri2257
 PMID:16395390
 著者        Ober C, Hoffjan S.
 タイトル      Asthma genetics 2006: the long and winding road to gene discovery.
 雑誌        Genes Immun 7:95-100 (2006)
 DOI:10.1038/sj.gene.6364284
 PMID:10369259
 著者        Drazen JM, Yandava CN, Dube L, Szczerback N, Hippensteel R, Pillari A, Israel E, Schork N, Silverman ES, Katz DA, Drajesk J
 タイトル      Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment.
 雑誌        Nat Genet 22:168-70 (1999)
 DOI:10.1038/9680
 PMID:15611928
 著者        Nicolae D, Cox NJ, Lester LA, Schneider D, Tan Z, Billstrand C, Kuldanek S, Donfack J, Kogut P, Patel NM, Goodenbour J, Howard T, Wolf R, Koppelman GH, White SR, Parry R, Postma DS, Meyers D, Bleecker ER, Hunt JS, Solway J, Ober C
 タイトル      Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
 雑誌        Am J Hum Genet 76:349-57 (2005)
 DOI:10.1086/427763
 PMID:12761043
 著者        Shin HD, Kim LH, Park BL, Jung JH, Kim JY, Chung IY, Kim JS, Lee JH, Chung SH, Kim YH, Park HS, Choi JH, Lee YM, Park SW, Choi BW, Hong SJ, Park CS
 タイトル      Association of Eotaxin gene family with asthma and serum total IgE.
 雑誌        Hum Mol Genet 12:1279-85 (2003)
 DOI:10.1093/hmg/ddg142
 PMID:11378823
 著者        Kirkbride HJ, Bolscher JG, Nazmi K, Vinall LE, Nash MW, Moss FM, Mitchell DM, Swallow DM
 タイトル      Genetic polymorphism of MUC7: allele frequencies and association with asthma.
 雑誌        Eur J Hum Genet 9:347-54 (2001)
 DOI:10.1038/sj.ejhg.5200642
 PMID:10733466
 著者        Kruse S, Mao XQ, Heinzmann A, Blattmann S, Roberts MH, Braun S, Gao PS, Forster J, Kuehr J, Hopkin JM, Shirakawa T, Deichmann KA
 タイトル      The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
 雑誌        Am J Hum Genet 66:1522-30 (2000)
 DOI:10.1086/302901
 PMID:11813133
 著者        Niimi T, Munakata M, Keck-Waggoner CL, Popescu NC, Levitt RC, Hisada M, Kimura S
 タイトル      A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.
 雑誌        Am J Hum Genet 70:718-25 (2002)
 DOI:10.1086/339272
 PMID:15496624
 著者        Oguma T, Palmer LJ, Birben E, Sonna LA, Asano K, Lilly CM
 タイトル      Role of prostanoid DP receptor variants in susceptibility to asthma.
 雑誌        N Engl J Med 351:1752-63 (2004)
 DOI:10.1056/NEJMoa031785
 PMID:18305139
 著者        Orsmark-Pietras C, Melen E, Vendelin J, Bruce S, Laitinen A, Laitinen LA, Lauener R, Riedler J, von Mutius E, Doekes G, Wickman M, van Hage M, Pershagen G, Scheynius A, Nyberg F, Kere J
 タイトル      Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases.
 雑誌        Hum Mol Genet 17:1673-82 (2008)
 DOI:10.1093/hmg/ddn058
 PMID:17503328
 著者        Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G
 タイトル      IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
 雑誌        Am J Hum Genet 80:1103-14 (2007)
 DOI:10.1086/518259
 PMID:18403759
 著者        Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL
 タイトル      Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
 雑誌        N Engl J Med 358:1682-91 (2008)
 DOI:10.1056/NEJMoa0708801","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00079"">H00079</a>","喘息
 下位グループ    喘息関連形質 (ASRT)","Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of the antigen and activation by APC, naive T cells differentiate into TH2 cells. Activated TH2 stimulate the formation of IgE by B cells. IgE molecules bind to IgE receptors located on mast cells. The crosslinking of mast-cell-bound IgE by allergens leads to the release of biologically active mediators (histamine, leukotrienes) by means of degranulation and, so, to the immediate symptoms of allergy. Mast cells also release chemotactic factors that contribute to the recruitment of inflammatory cells, particularly eosinophils, whose proliferation and differentiation from bone marrow progenitors is promoted by IL-5. The activation of eosinophils leads to release of toxic granules and oxygen free radicals that lead to tissue damage and promote the development of chronic inflammation.",,"IL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3565"">3565</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05430"">K05430</a>]
 IL4RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3566"">3566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05071"">K05071</a>]
 IL13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3596"">3596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05435"">K05435</a>]
 FCER1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2206"">2206</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08090"">K08090</a>]
 TNFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7124"">7124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03156"">K03156</a>]
 ADAM33 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80332"">80332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08616"">K08616</a>]
 CD14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:929"">929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04391"">K04391</a>]
 HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3135"">3135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 ADRB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154"">154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04142"">K04142</a>]
 ALOX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:240"">240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00461"">K00461</a>]
 CCL11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6356"">6356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16597"">K16597</a>]
 MUC7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4589"">4589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13909"">K13909</a>]
 PLA2G7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7941"">7941</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01062"">K01062</a>]
 SCGB3A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117156"">117156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25469"">K25469</a>]
 (ASRT1) PTGDR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5729"">5729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04332"">K04332</a>]
 (ASRT2) NPSR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387129"">387129</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08376"">K08376</a>]
 (ASRT5) IRAK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11213"">11213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04732"">K04732</a>]
 (ASRT7) CHI3L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1116"">1116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17523"">K17523</a>]",,"Particulate matter
 Diesel exhaust
 NO2 (nitrogen dioxide)
 Passive smoking/environmental tobacco smoke (ETS)
 Ozone
 Sulfur dioxide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C09306"">C09306</a>]",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 クロモグリク酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00526"">D00526</a>]
 イブジラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01385"">D01385</a>]
 ケトチフェンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01332"">D01332</a>]
 エピナスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01713"">D01713</a>]
 ペミロラストカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01088"">D01088</a>]
 トラニラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02027"">D02027</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 フルチカゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06315"">D06315</a>]
 フルチカゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01708"">D01708</a>]
 dl-イソプレナリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01390"">D01390</a>]
 ジプロフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00691"">D00691</a>]
 プロキシフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01771"">D01771</a>]
 アミノフィリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05429"">D05429</a>]
 ジプロフィリン・塩酸メトキシフェナミン・ノスカピン・クロルフェニラミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04296"">D04296</a>]
 アセチルシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00221"">D00221</a>]
 L-カルボシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00175"">D00175</a>]
 フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]
 アンブロキソール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01479"">D01479</a>]
 エプラジノン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01106"">D01106</a>]
 テオフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00371"">D00371</a>]
 フェノテロール臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01428"">D01428</a>]
 テルブタリン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00688"">D00688</a>]
 サルブタモール硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00683"">D00683</a>]
 イプラトロピウム臭化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02212"">D02212</a>]
 ツロブテロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01362"">D01362</a>]
 ツロブテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02151"">D02151</a>]
 サルメテロールキシナホ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00687"">D00687</a>]
 クレンブテロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01360"">D01360</a>]
 プロカテロール塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05366"">D05366</a>]
 チオトロピウム臭化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01929"">D01929</a>]
 dl-メチルエフェドリン塩酸塩・ジプロフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04342"">D04342</a>]
 ブデソニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00246"">D00246</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 シクレソニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01703"">D01703</a>]
 サルメテロールキシナホ酸塩・フルチカゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08699"">D08699</a>]
 ブデソニド・ホルモテロールフマル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09595"">D09595</a>]
 フルチカゾンフランカルボン酸エステル・ビランテロールトリフェニル酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10501"">D10501</a>]
 フルチカゾンプロピオン酸エステル・ホルモテロールフマル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10506"">D10506</a>]
 インダカテロール酢酸塩・モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11862"">D11862</a>]
 フルチカゾンフランカルボン酸エステル・ウメクリジニウム臭化物・ビランテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11035"">D11035</a>]
 インダカテロール酢酸塩・グリコピロニウム臭化物・モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11861"">D11861</a>]
 オマリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05251"">D05251</a>]
 メポリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04923"">D04923</a>]
 ベンラリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09874"">D09874</a>]
 アドレナリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00095"">D00095</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ヨウ素レシチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04944"">D04944</a>]
 メキタジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01324"">D01324</a>]
 デュピルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10354"">D10354</a>]
 アゼラスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00659"">D00659</a>]
 プランルカスト水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02732"">D02732</a>]
 モンテルカストナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00529"">D00529</a>]
 セラトロダスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01123"">D01123</a>]
 オキサトミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01773"">D01773</a>]
 アレルゲンエキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08770"">D08770</a>]
 スプラタストトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01423"">D01423</a>]
 オザグレル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01683"">D01683</a>]
 五虎湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06955"">D06955</a>]
 柴陥湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06961"">D06961</a>]
 柴朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06966"">D06966</a>]
 小柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06985"">D06985</a>]
 小青竜湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06987"">D06987</a>]
 神秘湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06994"">D06994</a>]
 大柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07004"">D07004</a>]
 大柴胡湯去大黄 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07005"">D07005</a>]
 麦門冬湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07030"">D07030</a>]
 半夏厚朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07032"">D07032</a>]
 麻黄湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07042"">D07042</a>]
 麻杏甘石湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07044"">D07044</a>]
 苓甘姜味辛夏仁湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07054"">D07054</a>]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08806"">D08806</a>]","Allergen:
 Furred pet (cat, dog)
 Dust mite
 Cockroach
 Rodent (rat, mouse)
 Mold
 Pollen (tree, grass, weed)","ICD-11: CA23
 ICD-10: J45
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001249"">D001249</a>
 OMIM: <a href=""https://www.omim.org/entry/600807"">600807</a> <a href=""https://www.omim.org/entry/607277"">607277</a> <a href=""https://www.omim.org/entry/608584"">608584</a> <a href=""https://www.omim.org/entry/611064"">611064</a> <a href=""https://www.omim.org/entry/611960"">611960</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18446588"">18446588</a>
 著者        Warrier MR, Hershey GK.
 タイトル      Asthma genetics: personalizing medicine.
 雑誌        J Asthma 45:257-64 (2008)
 DOI:<a href=""https://doi.org/10.1080/02770900801966180"">10.1080/02770900801966180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11172168"">11172168</a>
 著者        Busse WW, Lemanske RF Jr.
 タイトル      Asthma.
 雑誌        N Engl J Med 344:350-62 (2001)
 DOI:<a href=""https://doi.org/10.1056/NEJM200102013440507"">10.1056/NEJM200102013440507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18301422"">18301422</a>
 著者        Vercelli D.
 タイトル      Discovering susceptibility genes for asthma and allergy.
 雑誌        Nat Rev Immunol 8:169-82 (2008)
 DOI:<a href=""https://doi.org/10.1038/nri2257"">10.1038/nri2257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16395390"">16395390</a>
 著者        Ober C, Hoffjan S.
 タイトル      Asthma genetics 2006: the long and winding road to gene discovery.
 雑誌        Genes Immun 7:95-100 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.gene.6364284"">10.1038/sj.gene.6364284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10369259"">10369259</a>
 著者        Drazen JM, Yandava CN, Dube L, Szczerback N, Hippensteel R, Pillari A, Israel E, Schork N, Silverman ES, Katz DA, Drajesk J
 タイトル      Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment.
 雑誌        Nat Genet 22:168-70 (1999)
 DOI:<a href=""https://doi.org/10.1038/9680"">10.1038/9680</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15611928"">15611928</a>
 著者        Nicolae D, Cox NJ, Lester LA, Schneider D, Tan Z, Billstrand C, Kuldanek S, Donfack J, Kogut P, Patel NM, Goodenbour J, Howard T, Wolf R, Koppelman GH, White SR, Parry R, Postma DS, Meyers D, Bleecker ER, Hunt JS, Solway J, Ober C
 タイトル      Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
 雑誌        Am J Hum Genet 76:349-57 (2005)
 DOI:<a href=""https://doi.org/10.1086/427763"">10.1086/427763</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12761043"">12761043</a>
 著者        Shin HD, Kim LH, Park BL, Jung JH, Kim JY, Chung IY, Kim JS, Lee JH, Chung SH, Kim YH, Park HS, Choi JH, Lee YM, Park SW, Choi BW, Hong SJ, Park CS
 タイトル      Association of Eotaxin gene family with asthma and serum total IgE.
 雑誌        Hum Mol Genet 12:1279-85 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg142"">10.1093/hmg/ddg142</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11378823"">11378823</a>
 著者        Kirkbride HJ, Bolscher JG, Nazmi K, Vinall LE, Nash MW, Moss FM, Mitchell DM, Swallow DM
 タイトル      Genetic polymorphism of MUC7: allele frequencies and association with asthma.
 雑誌        Eur J Hum Genet 9:347-54 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200642"">10.1038/sj.ejhg.5200642</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10733466"">10733466</a>
 著者        Kruse S, Mao XQ, Heinzmann A, Blattmann S, Roberts MH, Braun S, Gao PS, Forster J, Kuehr J, Hopkin JM, Shirakawa T, Deichmann KA
 タイトル      The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
 雑誌        Am J Hum Genet 66:1522-30 (2000)
 DOI:<a href=""https://doi.org/10.1086/302901"">10.1086/302901</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11813133"">11813133</a>
 著者        Niimi T, Munakata M, Keck-Waggoner CL, Popescu NC, Levitt RC, Hisada M, Kimura S
 タイトル      A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.
 雑誌        Am J Hum Genet 70:718-25 (2002)
 DOI:<a href=""https://doi.org/10.1086/339272"">10.1086/339272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15496624"">15496624</a>
 著者        Oguma T, Palmer LJ, Birben E, Sonna LA, Asano K, Lilly CM
 タイトル      Role of prostanoid DP receptor variants in susceptibility to asthma.
 雑誌        N Engl J Med 351:1752-63 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa031785"">10.1056/NEJMoa031785</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18305139"">18305139</a>
 著者        Orsmark-Pietras C, Melen E, Vendelin J, Bruce S, Laitinen A, Laitinen LA, Lauener R, Riedler J, von Mutius E, Doekes G, Wickman M, van Hage M, Pershagen G, Scheynius A, Nyberg F, Kere J
 タイトル      Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases.
 雑誌        Hum Mol Genet 17:1673-82 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn058"">10.1093/hmg/ddn058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17503328"">17503328</a>
 著者        Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G
 タイトル      IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
 雑誌        Am J Hum Genet 80:1103-14 (2007)
 DOI:<a href=""https://doi.org/10.1086/518259"">10.1086/518259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18403759"">18403759</a>
 著者        Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL
 タイトル      Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
 雑誌        N Engl J Med 358:1682-91 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0708801"">10.1056/NEJMoa0708801</a>"
H00080,全身性エリテマトーデス,,,"Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particularly in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. It has been reported that there is a relatively high genetic component behind SLE. The data of family-based studies point toward an oligogenic background, with several susceptibility genes (SLEB) acting on disease expression along with environmental factors.",免疫系疾患,,"(SLE) PTPN22 [HSA:26191] [KO:K18024]
 (SLE) FCGR2A [HSA:2212] [KO:K06472]
 (SLE) FCGR2B [HSA:2213] [KO:K12560]
 (SLE) CTLA4 [HSA:1493] [KO:K06538]
 (SLE) TREX1 [HSA:11277] [KO:K10790]
 (SLE) DNASE1 [HSA:1773] [KO:K11994]
 (SLEB1) TLR5 [HSA:7100] [KO:K10168]
 (SLEB2) PDCD1 [HSA:5133] [KO:K06744]
 (SLEB9) CR2 [HSA:1380] [KO:K04012]
 (SLEB10) IRF5 [HSA:3663] [KO:K09446]
 (SLEB11) STAT4 [HSA:6775] [KO:K11222]
 (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995]
 HLA-DRB1 [HSA:3123] [KO:K06752]
 HLA-DQA1 [HSA:3117] [KO:K06752]
 HLA-DQB1 [HSA:3119] [KO:K06752]
 C2 [HSA:717] [KO:K01332]
 C4A [HSA:720] [KO:K03989]
 TNF [HSA:7124] [KO:K03156]
 FCGR3A [HSA:2214] [KO:K06463]
 FCGR3B [HSA:2215] [KO:K06463]
 CRP [HSA:1401] [KO:K16143]
 ZNF423 [HSA:23090] [KO:K22870]",,"Hydrazines
 Procainamide
 Chlorpromazine [CPD:C06906 C07952]
 Isoniazid [CPD:C07054]
 Phenytoin [CPD:C07443]
 Penicillamine [CPD:C07418]
 Tobacco smoke
 Hair dyes
 Ultraviolet light",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 アルプロスタジル [DR:D00180]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ベリムマブ [DR:D03068]
 アニフロルマブ [DR:D11082]
 アザチオプリン [DR:D00238]
 ヒドロキシクロロキン硫酸塩 [DR:D02114]
 シクロホスファミド水和物 [DR:D00287]","Autoantigen:
 Double-stranded DNA [CPD:C00434]
 H2A [HSA:474382]
 H2B [HSA:8346]
 H3 [HSA:3020]
 H4 [HSA:8359]
 Ro/SS-A [HSA:6737]
 La/SS-B [HSA:6741]
 Sm-B [HSA:6628]
 Sm-D [HSA:6632]
 NR2A [HSA:2903]
 NR2B [HSA:2904]
 Phosphatidyl-serine [CPD:C02737]
 C1q [HSA:712]","ICD-11: 4A40.0
 ICD-10: M32
 MeSH: D008180
 OMIM: 152700 601744 605218 610927 612251 612253 614420","PMID:15273934 (PTPN22)
 著者        Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW
 タイトル      Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
 雑誌        Am J Hum Genet 75:504-7 (2004)
 DOI:10.1086/423790
 PMID:33331924 (FCGR2A)
 著者        Melki I, Allaeys I, Tessandier N, Mailhot B, Cloutier N, Campbell RA, Rowley JW, Salem D, Zufferey A, Laroche A, Levesque T, Patey N, Rauch J, Lood C, Droit A, McKenzie SE, Machlus KR, Rondina MT, Lacroix S, Fortin PR, Boilard E
 タイトル      FcgammaRIIA expression accelerates nephritis and increases platelet activation in systemic lupus erythematosus.
 雑誌        Blood 136:2933-2945 (2020)
 DOI:10.1182/blood.2020004974
 PMID:15895258 (FCGR2B)
 著者        Blank MC, Stefanescu RN, Masuda E, Marti F, King PD, Redecha PB, Wurzburger RJ, Peterson MG, Tanaka S, Pricop L
 タイトル      Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus.
 雑誌        Hum Genet 117:220-7 (2005)
 DOI:10.1007/s00439-005-1302-3
 PMID:15138458 (CTLA4)
 著者        Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C, Martins B, Andreia R, Viana JF, Crespo F, Vasconcelos C, Ferreira C, Vicente AM
 タイトル      Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.
 雑誌        Eur J Hum Genet 12:620-6 (2004)
 DOI:10.1038/sj.ejhg.5201214
 PMID:17660818 (TREX1)
 著者        Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N
 タイトル      Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
 雑誌        Nat Genet 39:1065-7 (2007)
 DOI:10.1038/ng2091
 PMID:11479590 (DNASE1)
 著者        Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y
 タイトル      Mutation of DNASE1 in people with systemic lupus erythematosus.
 雑誌        Nat Genet 28:313-4 (2001)
 DOI:10.1038/91070
 PMID:16027372 (TLR5)
 著者        Hawn TR, Wu H, Grossman JM, Hahn BH, Tsao BP, Aderem A
 タイトル      A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.
 雑誌        Proc Natl Acad Sci U S A 102:10593-7 (2005)
 DOI:10.1073/pnas.0501165102
 PMID:12402038 (PDCD1)
 著者        Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME
 タイトル      A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
 雑誌        Nat Genet 32:666-9 (2002)
 DOI:10.1038/ng1020
 PMID:17360460 (CR2)
 著者        Wu H, Boackle SA, Hanvivadhanakul P, Ulgiati D, Grossman JM, Lee Y, Shen N, Abraham LJ, Mercer TR, Park E, Hebert LA, Rovin BH, Birmingham DJ, Chang DM, Chen CJ, McCurdy D, Badsha HM, Thong BY, Chng HH, Arnett FC, Wallace DJ, Yu CY, Hahn BH, Cantor RM, Tsao BP
 タイトル      Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.
 雑誌        Proc Natl Acad Sci U S A 104:3961-6 (2007)
 DOI:10.1073/pnas.0609101104
 PMID:16642019 (IRF5)
 著者        Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME
 タイトル      A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
 雑誌        Nat Genet 38:550-5 (2006)
 DOI:10.1038/ng1782
 PMID:19109131 (STAT4)
 著者        Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK, Niewold TB
 タイトル      Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
 雑誌        J Immunol 182:34-8 (2009)
 DOI:10.4049/jimmunol.182.1.34
 PMID:33173951 (DNASE1L3)
 著者        Zervou MI, Andreou A, Matalliotakis M, Spandidos DA, Goulielmos GN, Eliopoulos EE
 タイトル      Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights.
 雑誌        Mol Med Rep 22:4492-4498 (2020)
 DOI:10.3892/mmr.2020.11547
 PMID:12835292 (HLA-DRB1, HLA-DQA1, HLA-DQB1)
 著者        Mok CC, Lau CS.
 タイトル      Pathogenesis of systemic lupus erythematosus.
 雑誌        J Clin Pathol 56:481-90 (2003)
 DOI:10.1136/jcp.56.7.481
 PMID:18305268 (HLA-DRB1, C2, C4A, TNF, FCGR3A, FCGR3B, CRP, ZNF423)
 著者        Rahman A, Isenberg DA.
 タイトル      Systemic lupus erythematosus.
 雑誌        N Engl J Med 358:929-39 (2008)
 DOI:10.1056/NEJMra071297","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080"">H00080</a>",全身性エリテマトーデス,"Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particularly in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. It has been reported that there is a relatively high genetic component behind SLE. The data of family-based studies point toward an oligogenic background, with several susceptibility genes (SLEB) acting on disease expression along with environmental factors.",,"(SLE) PTPN22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26191"">26191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18024"">K18024</a>]
 (SLE) FCGR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2212"">2212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06472"">K06472</a>]
 (SLE) FCGR2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2213"">2213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12560"">K12560</a>]
 (SLE) CTLA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]
 (SLE) TREX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11277"">11277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10790"">K10790</a>]
 (SLE) DNASE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1773"">1773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11994"">K11994</a>]
 (SLEB1) TLR5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7100"">7100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10168"">K10168</a>]
 (SLEB2) PDCD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5133"">5133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06744"">K06744</a>]
 (SLEB9) CR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1380"">1380</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04012"">K04012</a>]
 (SLEB10) IRF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3663"">3663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09446"">K09446</a>]
 (SLEB11) STAT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6775"">6775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11222"">K11222</a>]
 (SLEB16) DNASE1L3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1776"">1776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11995"">K11995</a>]
 HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:717"">717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01332"">K01332</a>]
 C4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:720"">720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03989"">K03989</a>]
 TNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7124"">7124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03156"">K03156</a>]
 FCGR3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2214"">2214</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06463"">K06463</a>]
 FCGR3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2215"">2215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06463"">K06463</a>]
 CRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1401"">1401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16143"">K16143</a>]
 ZNF423 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23090"">23090</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22870"">K22870</a>]",,"Hydrazines
 Procainamide
 Chlorpromazine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06906"">C06906</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07952"">C07952</a>]
 Isoniazid [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07054"">C07054</a>]
 Phenytoin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07443"">C07443</a>]
 Penicillamine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07418"">C07418</a>]
 Tobacco smoke
 Hair dyes
 Ultraviolet light",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 アルプロスタジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00180"">D00180</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ベリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03068"">D03068</a>]
 アニフロルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11082"">D11082</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 ヒドロキシクロロキン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02114"">D02114</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]","Autoantigen:
 Double-stranded DNA [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00434"">C00434</a>]
 H2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:474382"">474382</a>]
 H2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8346"">8346</a>]
 H3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3020"">3020</a>]
 H4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8359"">8359</a>]
 Ro/SS-A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6737"">6737</a>]
 La/SS-B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6741"">6741</a>]
 Sm-B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6628"">6628</a>]
 Sm-D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6632"">6632</a>]
 NR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2903"">2903</a>]
 NR2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2904"">2904</a>]
 Phosphatidyl-serine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C02737"">C02737</a>]
 C1q [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:712"">712</a>]","ICD-11: 4A40.0
 ICD-10: M32
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008180"">D008180</a>
 OMIM: <a href=""https://www.omim.org/entry/152700"">152700</a> <a href=""https://www.omim.org/entry/601744"">601744</a> <a href=""https://www.omim.org/entry/605218"">605218</a> <a href=""https://www.omim.org/entry/610927"">610927</a> <a href=""https://www.omim.org/entry/612251"">612251</a> <a href=""https://www.omim.org/entry/612253"">612253</a> <a href=""https://www.omim.org/entry/614420"">614420</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15273934"">15273934</a> (PTPN22)
 著者        Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW
 タイトル      Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
 雑誌        Am J Hum Genet 75:504-7 (2004)
 DOI:<a href=""https://doi.org/10.1086/423790"">10.1086/423790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33331924"">33331924</a> (FCGR2A)
 著者        Melki I, Allaeys I, Tessandier N, Mailhot B, Cloutier N, Campbell RA, Rowley JW, Salem D, Zufferey A, Laroche A, Levesque T, Patey N, Rauch J, Lood C, Droit A, McKenzie SE, Machlus KR, Rondina MT, Lacroix S, Fortin PR, Boilard E
 タイトル      FcgammaRIIA expression accelerates nephritis and increases platelet activation in systemic lupus erythematosus.
 雑誌        Blood 136:2933-2945 (2020)
 DOI:<a href=""https://doi.org/10.1182/blood.2020004974"">10.1182/blood.2020004974</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15895258"">15895258</a> (FCGR2B)
 著者        Blank MC, Stefanescu RN, Masuda E, Marti F, King PD, Redecha PB, Wurzburger RJ, Peterson MG, Tanaka S, Pricop L
 タイトル      Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus.
 雑誌        Hum Genet 117:220-7 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1302-3"">10.1007/s00439-005-1302-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15138458"">15138458</a> (CTLA4)
 著者        Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C, Martins B, Andreia R, Viana JF, Crespo F, Vasconcelos C, Ferreira C, Vicente AM
 タイトル      Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.
 雑誌        Eur J Hum Genet 12:620-6 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201214"">10.1038/sj.ejhg.5201214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17660818"">17660818</a> (TREX1)
 著者        Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N
 タイトル      Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
 雑誌        Nat Genet 39:1065-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2091"">10.1038/ng2091</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11479590"">11479590</a> (DNASE1)
 著者        Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y
 タイトル      Mutation of DNASE1 in people with systemic lupus erythematosus.
 雑誌        Nat Genet 28:313-4 (2001)
 DOI:<a href=""https://doi.org/10.1038/91070"">10.1038/91070</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16027372"">16027372</a> (TLR5)
 著者        Hawn TR, Wu H, Grossman JM, Hahn BH, Tsao BP, Aderem A
 タイトル      A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.
 雑誌        Proc Natl Acad Sci U S A 102:10593-7 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0501165102"">10.1073/pnas.0501165102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12402038"">12402038</a> (PDCD1)
 著者        Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME
 タイトル      A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
 雑誌        Nat Genet 32:666-9 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1020"">10.1038/ng1020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17360460"">17360460</a> (CR2)
 著者        Wu H, Boackle SA, Hanvivadhanakul P, Ulgiati D, Grossman JM, Lee Y, Shen N, Abraham LJ, Mercer TR, Park E, Hebert LA, Rovin BH, Birmingham DJ, Chang DM, Chen CJ, McCurdy D, Badsha HM, Thong BY, Chng HH, Arnett FC, Wallace DJ, Yu CY, Hahn BH, Cantor RM, Tsao BP
 タイトル      Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.
 雑誌        Proc Natl Acad Sci U S A 104:3961-6 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0609101104"">10.1073/pnas.0609101104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16642019"">16642019</a> (IRF5)
 著者        Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME
 タイトル      A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
 雑誌        Nat Genet 38:550-5 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1782"">10.1038/ng1782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19109131"">19109131</a> (STAT4)
 著者        Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK, Niewold TB
 タイトル      Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
 雑誌        J Immunol 182:34-8 (2009)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.182.1.34"">10.4049/jimmunol.182.1.34</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33173951"">33173951</a> (DNASE1L3)
 著者        Zervou MI, Andreou A, Matalliotakis M, Spandidos DA, Goulielmos GN, Eliopoulos EE
 タイトル      Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights.
 雑誌        Mol Med Rep 22:4492-4498 (2020)
 DOI:<a href=""https://doi.org/10.3892/mmr.2020.11547"">10.3892/mmr.2020.11547</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12835292"">12835292</a> (HLA-DRB1, <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DQA1,"">HLA-DQA1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DQB1)"">HLA-DQB1)</a>
 著者        Mok CC, Lau CS.
 タイトル      Pathogenesis of systemic lupus erythematosus.
 雑誌        J Clin Pathol 56:481-90 (2003)
 DOI:<a href=""https://doi.org/10.1136/jcp.56.7.481"">10.1136/jcp.56.7.481</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18305268"">18305268</a> (HLA-DRB1, <a href=""https://pubmed.ncbi.nlm.nih.gov/C2,"">C2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/C4A,"">C4A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TNF,"">TNF,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FCGR3A,"">FCGR3A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FCGR3B,"">FCGR3B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CRP,"">CRP,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ZNF423)"">ZNF423)</a>
 著者        Rahman A, Isenberg DA.
 タイトル      Systemic lupus erythematosus.
 雑誌        N Engl J Med 358:929-39 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMra071297"">10.1056/NEJMra071297</a>"
H00081,橋本病,,,"Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired thyroid hormone production and clinical hypothyroidism, a condition that involves a marked reduction of metabolic activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.",免疫系疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
 HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
 CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]",,"Iodine [CPD:C01382]
 Amiodarone [CPD:C06823]
 IFN-alpha
 Infectious organisms
 IL-2 [HSA:3558]",,,"Autoantigens:
 Thyroidperoxidase (TPO) [HSA:7173]
 Thyroglobulin (Tg) [HSA:7038]
 Na+/ I- symporter (NIS) [HSA:6528]","ICD-11: 5A03.20
 ICD-10: E06.3
 MeSH: D050031","PMID:11913070
 著者        Stassi G, De Maria R.
 タイトル      Autoimmune thyroid disease: new models of cell death in autoimmunity.
 雑誌        Nat Rev Immunol 2:195-204 (2002)
 DOI:10.1038/nri750
 PMID:15049952 (gene, env_factor)
 著者        Fountoulakis S, Tsatsoulis A.
 タイトル      On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
 雑誌        Clin Endocrinol (Oxf) 60:397-409 (2004)
 DOI:10.1046/j.1365-2265.2004.01978.x
 PMID:15030506
 著者        Simmonds MJ, Gough SC.
 タイトル      Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond.
 雑誌        Clin Exp Immunol 136:1-10 (2004)
 DOI:10.1111/j.1365-2249.2004.02424.x
 PMID:15762980 (gene, env_factor, marker)
 著者        Chistiakov DA.
 タイトル      Immunogenetics of Hashimoto's thyroiditis.
 雑誌        J Autoimmune Dis 2:1 (2005)
 DOI:10.1186/1740-2557-2-1
 PMID:12734493 (gene, env_factor, marker, autoantigen)
 著者        Ai J, Leonhardt JM, Heymann WR.
 タイトル      Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.
 雑誌        J Am Acad Dermatol 48:641-59; quiz 660-2 (2003)
 DOI:10.1067/mjd.2003.257
 PMID:15132715 (env_factor)
 著者        Prummel MF, Strieder T, Wiersinga WM.
 タイトル      The environment and autoimmune thyroid diseases.
 雑誌        Eur J Endocrinol 150:605-18 (2004)
 DOI:10.1530/eje.0.1500605
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:16127951 (drug)
 著者        Reid JR, Wheeler SF.
 タイトル      Hyperthyroidism: diagnosis and treatment.
 雑誌        Am Fam Physician 72:623-30 (2005)
 PMID:11396701 (autoantigen)
 著者        Ruwhof C, Drexhage HA.
 タイトル      Iodine and thyroid autoimmune disease in animal models.
 雑誌        Thyroid 11:427-36 (2001)
 DOI:10.1089/105072501300176381
 PMID:15135604 (autoantigen)
 著者        Scofield RH.
 タイトル      Autoantibodies as predictors of disease.
 雑誌        Lancet 363:1544-6 (2004)
 DOI:10.1016/S0140-6736(04)16154-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00081"">H00081</a>",橋本病,"Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired thyroid hormone production and clinical hypothyroidism, a condition that involves a marked reduction of metabolic activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 CTLA-4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]",,"Iodine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01382"">C01382</a>]
 Amiodarone [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06823"">C06823</a>]
 IFN-alpha
 Infectious organisms
 IL-2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3558"">3558</a>]",,,"Autoantigens:
 Thyroidperoxidase (TPO) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7173"">7173</a>]
 Thyroglobulin (Tg) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7038"">7038</a>]
 Na+/ I- symporter (NIS) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6528"">6528</a>]","ICD-11: 5A03.20
 ICD-10: E06.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050031"">D050031</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11913070"">11913070</a>
 著者        Stassi G, De Maria R.
 タイトル      Autoimmune thyroid disease: new models of cell death in autoimmunity.
 雑誌        Nat Rev Immunol 2:195-204 (2002)
 DOI:<a href=""https://doi.org/10.1038/nri750"">10.1038/nri750</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15049952"">15049952</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Fountoulakis S, Tsatsoulis A.
 タイトル      On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
 雑誌        Clin Endocrinol (Oxf) 60:397-409 (2004)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2265.2004.01978.x"">10.1046/j.1365-2265.2004.01978.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15030506"">15030506</a>
 著者        Simmonds MJ, Gough SC.
 タイトル      Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond.
 雑誌        Clin Exp Immunol 136:1-10 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2249.2004.02424.x"">10.1111/j.1365-2249.2004.02424.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15762980"">15762980</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Chistiakov DA.
 タイトル      Immunogenetics of Hashimoto's thyroiditis.
 雑誌        J Autoimmune Dis 2:1 (2005)
 DOI:<a href=""https://doi.org/10.1186/1740-2557-2-1"">10.1186/1740-2557-2-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12734493"">12734493</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/autoantigen)"">autoantigen)</a>
 著者        Ai J, Leonhardt JM, Heymann WR.
 タイトル      Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.
 雑誌        J Am Acad Dermatol 48:641-59; quiz 660-2 (2003)
 DOI:<a href=""https://doi.org/10.1067/mjd.2003.257"">10.1067/mjd.2003.257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15132715"">15132715</a> (env_factor)
 著者        Prummel MF, Strieder T, Wiersinga WM.
 タイトル      The environment and autoimmune thyroid diseases.
 雑誌        Eur J Endocrinol 150:605-18 (2004)
 DOI:<a href=""https://doi.org/10.1530/eje.0.1500605"">10.1530/eje.0.1500605</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16127951"">16127951</a> (drug)
 著者        Reid JR, Wheeler SF.
 タイトル      Hyperthyroidism: diagnosis and treatment.
 雑誌        Am Fam Physician 72:623-30 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11396701"">11396701</a> (autoantigen)
 著者        Ruwhof C, Drexhage HA.
 タイトル      Iodine and thyroid autoimmune disease in animal models.
 雑誌        Thyroid 11:427-36 (2001)
 DOI:<a href=""https://doi.org/10.1089/105072501300176381"">10.1089/105072501300176381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15135604"">15135604</a> (autoantigen)
 著者        Scofield RH.
 タイトル      Autoantibodies as predictors of disease.
 雑誌        Lancet 363:1544-6 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(04)16154-0"">10.1016/S0140-6736(04)16154-0</a>"
H00082,グレーブス病,,,"Graves disease is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies. This overstimulation leads to follicular hypertrophy and hyperplasia, causing thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.",免疫系疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
 HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
 CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]",,"Iodine [CPD:C01382]
 IFN-alpha
 Smoking
 病原体         Yersinia enterocolitica",,,Autoantigen: TSH-R [HSA:7253],"ICD-11: 5A02.0
 ICD-10: E05.0
 MeSH: D006111","PMID:15049952
 著者        Fountoulakis S, Tsatsoulis A.
 タイトル      On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
 雑誌        Clin Endocrinol (Oxf) 60:397-409 (2004)
 DOI:10.1046/j.1365-2265.2004.01978.x
 PMID:15030506
 著者        Simmonds MJ, Gough SC.
 タイトル      Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond.
 雑誌        Clin Exp Immunol 136:1-10 (2004)
 DOI:10.1111/j.1365-2249.2004.02424.x
 PMID:12734493
 著者        Ai J, Leonhardt JM, Heymann WR.
 タイトル      Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.
 雑誌        J Am Acad Dermatol 48:641-59; quiz 660-2 (2003)
 DOI:10.1067/mjd.2003.257
 PMID:15132715 (env_factor)
 著者        Prummel MF, Strieder T, Wiersinga WM.
 タイトル      The environment and autoimmune thyroid diseases.
 雑誌        Eur J Endocrinol 150:605-18 (2004)
 DOI:10.1530/eje.0.1500605
 (marker, drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:18550875 (description, marker, drug)
 著者        Brent GA.
 タイトル      Clinical practice. Graves' disease.
 雑誌        N Engl J Med 358:2594-605 (2008)
 DOI:10.1056/NEJMcp0801880
 PMID:16127951 (drug)
 著者        Reid JR, Wheeler SF.
 タイトル      Hyperthyroidism: diagnosis and treatment.
 雑誌        Am Fam Physician 72:623-30 (2005)
 PMID:11396701 (autoantigen)
 著者        Ruwhof C, Drexhage HA.
 タイトル      Iodine and thyroid autoimmune disease in animal models.
 雑誌        Thyroid 11:427-36 (2001)
 DOI:10.1089/105072501300176381
 PMID:15135604 (autoantigen)
 著者        Scofield RH.
 タイトル      Autoantibodies as predictors of disease.
 雑誌        Lancet 363:1544-6 (2004)
 DOI:10.1016/S0140-6736(04)16154-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00082"">H00082</a>",グレーブス病,"Graves disease is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies. This overstimulation leads to follicular hypertrophy and hyperplasia, causing thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 CTLA-4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]",,"Iodine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01382"">C01382</a>]
 IFN-alpha
 Smoking
 病原体         Yersinia enterocolitica",,,"Autoantigen: TSH-R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7253"">7253</a>]","ICD-11: 5A02.0
 ICD-10: E05.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006111"">D006111</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15049952"">15049952</a>
 著者        Fountoulakis S, Tsatsoulis A.
 タイトル      On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
 雑誌        Clin Endocrinol (Oxf) 60:397-409 (2004)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2265.2004.01978.x"">10.1046/j.1365-2265.2004.01978.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15030506"">15030506</a>
 著者        Simmonds MJ, Gough SC.
 タイトル      Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond.
 雑誌        Clin Exp Immunol 136:1-10 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2249.2004.02424.x"">10.1111/j.1365-2249.2004.02424.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12734493"">12734493</a>
 著者        Ai J, Leonhardt JM, Heymann WR.
 タイトル      Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations.
 雑誌        J Am Acad Dermatol 48:641-59; quiz 660-2 (2003)
 DOI:<a href=""https://doi.org/10.1067/mjd.2003.257"">10.1067/mjd.2003.257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15132715"">15132715</a> (env_factor)
 著者        Prummel MF, Strieder T, Wiersinga WM.
 タイトル      The environment and autoimmune thyroid diseases.
 雑誌        Eur J Endocrinol 150:605-18 (2004)
 DOI:<a href=""https://doi.org/10.1530/eje.0.1500605"">10.1530/eje.0.1500605</a>
 (marker, drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18550875"">18550875</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Brent GA.
 タイトル      Clinical practice. Graves' disease.
 雑誌        N Engl J Med 358:2594-605 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp0801880"">10.1056/NEJMcp0801880</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16127951"">16127951</a> (drug)
 著者        Reid JR, Wheeler SF.
 タイトル      Hyperthyroidism: diagnosis and treatment.
 雑誌        Am Fam Physician 72:623-30 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11396701"">11396701</a> (autoantigen)
 著者        Ruwhof C, Drexhage HA.
 タイトル      Iodine and thyroid autoimmune disease in animal models.
 雑誌        Thyroid 11:427-36 (2001)
 DOI:<a href=""https://doi.org/10.1089/105072501300176381"">10.1089/105072501300176381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15135604"">15135604</a> (autoantigen)
 著者        Scofield RH.
 タイトル      Autoantibodies as predictors of disease.
 雑誌        Lancet 363:1544-6 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(04)16154-0"">10.1016/S0140-6736(04)16154-0</a>"
H00083,同種移植片拒絶反応,,,"Allograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen presentation. In the direct pathway, recipient T cells react to intact allogeneic MHC molecules expressed on the surface of donor cells. This pathway would activate host CD4 or CD8 T cells. In contrast, donor MHC molecules (and all other proteins) shed from the graft can be taken up by host APCs and presented to recipient T cells in the context of self-MHC molecules - the indirect pathway. Such presentation activates predominantly CD4 T cells. A direct cytotoxic T-cell attack on graft cells can be made only by T cells that recognize the graft MHC molecules directly. Nonetheless, T cells with indirect allospecificity can contribute to graft rejection by activating macrophages, which cause tissue injury and fibrosis, and are also likely to be important in the development of an alloantibody response to graft.",免疫系疾患,,"TNF [HSA:7124] [KO:K03156]
 IL10 [HSA:3586] [KO:K05443]
 TGFB1 [HSA:7040] [KO:K13375]
 TGFB2 [HSA:7042] [KO:K13376]
 TGFB3 [HSA:7043] [KO:K13377]
 IFNG [HSA:3458] [KO:K04687]
 HLA-DMA [HSA:3108] [KO:K06752]
 ICAM1 [HSA:3383] [KO:K06490]
 CTLA4 [HSA:1493] [KO:K06538]
 ACE [HSA:1636] [KO:K01283]
 ITGB3 [HSA:3690] [KO:K06493]",,HLA mismatch,,"タクロリムス水和物 [DR:D00107]
 シクロスポリン [DR:D00184]
 エベロリムス [DR:D02714]
 ミコフェノール酸モフェチル [DR:D00752]
 グスペリムス塩酸塩 [DR:D01566]
 アザチオプリン [DR:D00238]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:D09190]
 バシリキシマブ [DR:D03058]",,"ICD-11: NE84
 ICD-10: T86","PMID:11544006 (TNF, IL10, TGFB, IFNG, HLA-DMA, ICAM1, CTLA4, ACE, ATGB3)
 著者        Akalin E, Murphy B.
 タイトル      Gene polymorphisms and transplantation.
 雑誌        Curr Opin Immunol 13:572-6 (2001)
 DOI:10.1016/S0952-7915(00)00261-2
 PMID:15690532
 著者        Warle MC, Metselaar HJ, Hop WC, Tilanus HW.
 タイトル      Cytokine gene polymorphisms and acute liver graft rejection: a meta-analysis.
 雑誌        Liver Transpl 11:19-26 (2005)
 DOI:10.1002/lt.20316
 PMID:12089714
 著者        Warle MC, Farhan A, Metselaar HJ, Hop WC, Perrey C, Zondervan PE, Kap M, de Rave S, Kwekkeboom J, Ijzermans JN, Tilanus HW, Pravica V, Hutchinson IV, Bouma GJ.
 タイトル      Cytokine gene polymorphisms and acute human liver graft rejection.
 雑誌        Liver Transpl 8:603-11 (2002)
 DOI:10.1053/jlts.2002.33967
 PMID:15848524
 著者        Lacha J, Hribova P, Kotsch K, Brabcova I, Bartosova K, Volk HD, Vitko S.
 タイトル      Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence of donor-recipient match.
 雑誌        Transplant Proc 37:764-6 (2005)
 DOI:10.1016/j.transproceed.2004.12.224","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00083"">H00083</a>",同種移植片拒絶反応,"Allograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen presentation. In the direct pathway, recipient T cells react to intact allogeneic MHC molecules expressed on the surface of donor cells. This pathway would activate host CD4 or CD8 T cells. In contrast, donor MHC molecules (and all other proteins) shed from the graft can be taken up by host APCs and presented to recipient T cells in the context of self-MHC molecules - the indirect pathway. Such presentation activates predominantly CD4 T cells. A direct cytotoxic T-cell attack on graft cells can be made only by T cells that recognize the graft MHC molecules directly. Nonetheless, T cells with indirect allospecificity can contribute to graft rejection by activating macrophages, which cause tissue injury and fibrosis, and are also likely to be important in the development of an alloantibody response to graft.",,"TNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7124"">7124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03156"">K03156</a>]
 IL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 TGFB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7040"">7040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13375"">K13375</a>]
 TGFB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7042"">7042</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13376"">K13376</a>]
 TGFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]
 IFNG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3458"">3458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04687"">K04687</a>]
 HLA-DMA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3108"">3108</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 ICAM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3383"">3383</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06490"">K06490</a>]
 CTLA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]
 ACE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1636"">1636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01283"">K01283</a>]
 ITGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3690"">3690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06493"">K06493</a>]",,HLA mismatch,,"タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]
 ミコフェノール酸モフェチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00752"">D00752</a>]
 グスペリムス塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01566"">D01566</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09190"">D09190</a>]
 バシリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03058"">D03058</a>]",,"ICD-11: NE84
 ICD-10: T86","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11544006"">11544006</a> (TNF, <a href=""https://pubmed.ncbi.nlm.nih.gov/IL10,"">IL10,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFB,"">TGFB,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IFNG,"">IFNG,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DMA,"">HLA-DMA,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ICAM1,"">ICAM1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CTLA4,"">CTLA4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ACE,"">ACE,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ATGB3)"">ATGB3)</a>
 著者        Akalin E, Murphy B.
 タイトル      Gene polymorphisms and transplantation.
 雑誌        Curr Opin Immunol 13:572-6 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0952-7915(00)00261-2"">10.1016/S0952-7915(00)00261-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15690532"">15690532</a>
 著者        Warle MC, Metselaar HJ, Hop WC, Tilanus HW.
 タイトル      Cytokine gene polymorphisms and acute liver graft rejection: a meta-analysis.
 雑誌        Liver Transpl 11:19-26 (2005)
 DOI:<a href=""https://doi.org/10.1002/lt.20316"">10.1002/lt.20316</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12089714"">12089714</a>
 著者        Warle MC, Farhan A, Metselaar HJ, Hop WC, Perrey C, Zondervan PE, Kap M, de Rave S, Kwekkeboom J, Ijzermans JN, Tilanus HW, Pravica V, Hutchinson IV, Bouma GJ.
 タイトル      Cytokine gene polymorphisms and acute human liver graft rejection.
 雑誌        Liver Transpl 8:603-11 (2002)
 DOI:<a href=""https://doi.org/10.1053/jlts.2002.33967"">10.1053/jlts.2002.33967</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15848524"">15848524</a>
 著者        Lacha J, Hribova P, Kotsch K, Brabcova I, Bartosova K, Volk HD, Vitko S.
 タイトル      Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence of donor-recipient match.
 雑誌        Transplant Proc 37:764-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.transproceed.2004.12.224"">10.1016/j.transproceed.2004.12.224</a>"
H00084,移植片対宿主病,,,"Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD pathophysiology can be summerized in a three-step process. Step 1 involves the development of an inflammatory milieu resulting from damage in the host tissues induced by the preparative chemotherapy or radiotherapy regimen. Damaged tissues secrete inflammatory cytokines, including interleukin 1 (IL-1), and tumor necrosis factor (TNF-alpha ). During step 2, antigen-presenting cells (APCs) trigger the activation of donor-derived T cells, which induce further T-cell expansion, induce cytotoxic T lymphocytes (CTL) and natural killer (NK) cells responses and prime additional mononuclear phagocytes to produce TNF-alpha and IL-1. Also, nitric oxide (NO) is produced by activated macrophages, and it may contribute to the tissue damage seen during step 3. During step 3, the effector phase, activated CTL and NK cells mediate cytotoxicity against target host cells through Fas-Fas ligand interactions and perforin-granzyme B.",免疫系疾患,,"IL10 [HSA:3586] [KO:K05443]
 TNF [HSA:7124] [KO:K03156]
 IL1A [HSA:3552] [KO:K04383]
 IL1RN [HSA:3557] [KO:K05481]
 IFNG [HSA:3458] [KO:K04687]
 IL6 [HSA:3569] [KO:K05405]
 TGFB1 [HSA:7040] [KO:K13375]
 TGFB2 [HSA:7042] [KO:K13376]
 TGFB3 [HSA:7043] [KO:K13377]
 IL13 [HSA:3596] [KO:K05435]
 TNFRSF1B [HSA:7133] [KO:K05141]
 IL2 [HSA:3558] [KO:K05429]",,"Donor-recipient gender mismatch
 Histocompatibility antigen mismatch (major and minor)
 Host exposure to previous blood product transfusion
 Low concentrations of immunosuppressants in recipient
 Older age of both recipient and donor
 Intensity of preparative regimen",,"タクロリムス水和物 [DR:D00107]
 シクロスポリン [DR:D00184]
 イブルチニブ [DR:D10223]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:D09190]",,"ICD-11: 4B24
 ICD-10: T86
 MeSH: D006086
 OMIM: 614395","PMID:19000150
 著者        Markey KA, MacDonald KP, Hill GR
 タイトル      Impact of cytokine gene polymorphisms on graft-vs-host disease.
 雑誌        Tissue Antigens 72:507-16 (2008)
 DOI:10.1111/j.1399-0039.2008.01139.x
 PMID:12394168
 著者        Holler E.
 タイトル      Cytokines, viruses, and graft-versus-host disease.
 雑誌        Curr Opin Hematol 9:479-84 (2002)
 DOI:10.1097/00062752-200211000-00002
 PMID:18503983
 著者        Dickinson AM, Holler E.
 タイトル      Polymorphisms of cytokine and innate immunity genes and GVHD.
 雑誌        Best Pract Res Clin Haematol 21:149-64 (2008)
 DOI:10.1016/j.beha.2008.03.004
 PMID:17976248
 著者        Dickinson AM, Harrold JL, Cullup H.
 タイトル      Haematopoietic stem cell transplantation: can our genes predict clinical outcome?
 雑誌        Expert Rev Mol Med 9:1-19 (2007)
 DOI:10.1017/S1462399407000488
 PMID:15245422
 著者        Gilliam AC.
 タイトル      Update on graft versus host disease.
 雑誌        J Invest Dermatol 123:251-7 (2004)
 DOI:10.1111/j.1523-1747.2004.23211.x
 PMID:14657427 (IL10)
 著者        Lin MT, Storer B, Martin PJ, Tseng LH, Gooley T, Chen PJ, Hansen JA
 タイトル      Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation.
 雑誌        N Engl J Med 349:2201-10 (2003)
 DOI:10.1056/NEJMoa022060","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00084"">H00084</a>",移植片対宿主病,"Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD pathophysiology can be summerized in a three-step process. Step 1 involves the development of an inflammatory milieu resulting from damage in the host tissues induced by the preparative chemotherapy or radiotherapy regimen. Damaged tissues secrete inflammatory cytokines, including interleukin 1 (IL-1), and tumor necrosis factor (TNF-alpha ). During step 2, antigen-presenting cells (APCs) trigger the activation of donor-derived T cells, which induce further T-cell expansion, induce cytotoxic T lymphocytes (CTL) and natural killer (NK) cells responses and prime additional mononuclear phagocytes to produce TNF-alpha and IL-1. Also, nitric oxide (NO) is produced by activated macrophages, and it may contribute to the tissue damage seen during step 3. During step 3, the effector phase, activated CTL and NK cells mediate cytotoxicity against target host cells through Fas-Fas ligand interactions and perforin-granzyme B.",,"IL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 TNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7124"">7124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03156"">K03156</a>]
 IL1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3552"">3552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04383"">K04383</a>]
 IL1RN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3557"">3557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05481"">K05481</a>]
 IFNG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3458"">3458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04687"">K04687</a>]
 IL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3569"">3569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05405"">K05405</a>]
 TGFB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7040"">7040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13375"">K13375</a>]
 TGFB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7042"">7042</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13376"">K13376</a>]
 TGFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]
 IL13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3596"">3596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05435"">K05435</a>]
 TNFRSF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7133"">7133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05141"">K05141</a>]
 IL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3558"">3558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05429"">K05429</a>]",,"Donor-recipient gender mismatch
 Histocompatibility antigen mismatch (major and minor)
 Host exposure to previous blood product transfusion
 Low concentrations of immunosuppressants in recipient
 Older age of both recipient and donor
 Intensity of preparative regimen",,"タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 イブルチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10223"">D10223</a>]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09190"">D09190</a>]",,"ICD-11: 4B24
 ICD-10: T86
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006086"">D006086</a>
 OMIM: <a href=""https://www.omim.org/entry/614395"">614395</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19000150"">19000150</a>
 著者        Markey KA, MacDonald KP, Hill GR
 タイトル      Impact of cytokine gene polymorphisms on graft-vs-host disease.
 雑誌        Tissue Antigens 72:507-16 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0039.2008.01139.x"">10.1111/j.1399-0039.2008.01139.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12394168"">12394168</a>
 著者        Holler E.
 タイトル      Cytokines, viruses, and graft-versus-host disease.
 雑誌        Curr Opin Hematol 9:479-84 (2002)
 DOI:<a href=""https://doi.org/10.1097/00062752-200211000-00002"">10.1097/00062752-200211000-00002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18503983"">18503983</a>
 著者        Dickinson AM, Holler E.
 タイトル      Polymorphisms of cytokine and innate immunity genes and GVHD.
 雑誌        Best Pract Res Clin Haematol 21:149-64 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.beha.2008.03.004"">10.1016/j.beha.2008.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17976248"">17976248</a>
 著者        Dickinson AM, Harrold JL, Cullup H.
 タイトル      Haematopoietic stem cell transplantation: can our genes predict clinical outcome?
 雑誌        Expert Rev Mol Med 9:1-19 (2007)
 DOI:<a href=""https://doi.org/10.1017/S1462399407000488"">10.1017/S1462399407000488</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15245422"">15245422</a>
 著者        Gilliam AC.
 タイトル      Update on graft versus host disease.
 雑誌        J Invest Dermatol 123:251-7 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1523-1747.2004.23211.x"">10.1111/j.1523-1747.2004.23211.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14657427"">14657427</a> (IL10)
 著者        Lin MT, Storer B, Martin PJ, Tseng LH, Gooley T, Chen PJ, Hansen JA
 タイトル      Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation.
 雑誌        N Engl J Med 349:2201-10 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa022060"">10.1056/NEJMoa022060</a>"
H00085,"無ガンマグロブリン血症
 下位グループ    X連鎖無ガンマグロブリン血症 (AGMX)
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly reduced or absent B cells in the peripheral circulation, and (in the bone marrow) a severe block in B cell differentiation before the production of surface immunoglobulin-positive B cells. Mutations in Btk, the gene responsible for X-linked agammaglobulinemia (XLA), account for approximately 85% of affected patients. Approximately half of the remaining patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); and lambda 5 (IGLL1), which forms the surrogate light chain with Vpre-B. A small number of patients with defects in BLNK, a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported.",免疫系疾患,,"(AGMX1) BTK [HSA:695] [KO:K07370]
 (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
 (AGM2) IGLL1 [HSA:3543] [KO:K06554]
 (AGM3) CD79A [HSA:973] [KO:K06506]
 (AGM4) BLNK [HSA:29760] [KO:K07371]
 (AGM5) LRRC8A [HSA:56262] [KO:K22038]
 (AGM6) CD79B [HSA:974] [KO:K06507]
 (AGM7) PIK3R1 [HSA:5295] [KO:K02649]
 (AGM8) TCF3 [HSA:6929] [KO:K09063]
 (AGM9) SLC39A7 [HSA:7922] [KO:K14713]
 (AGM10) SPI1 [HSA:6688] [KO:K09438]",,,,"人免疫グロブリン [DR:D06458]
 pH4処理酸性人免疫グロブリン [DR:D08779]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥イオン交換樹脂処理人免疫グロブリン [DR:D08785]
 乾燥スルホ化人免疫グロブリン [DR:D08786]
 乾燥ペプシン処理人免疫グロブリン [DR:D08787]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]",AGM1 is caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM).,"ICD-11: 4A01.00
 ICD-10: D80
 MeSH: D000361
 OMIM: 300755 300310 601495 613500 613501 613502 613506 612692 615214 616941 619693 619707","PMID:19302039
 著者        Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D
 タイトル      Primary B cell immunodeficiencies: comparisons and contrasts.
 雑誌        Annu Rev Immunol 27:199-227 (2009)
 DOI:10.1146/annurev.immunol.021908.132649
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:32552675 (AGMX1)
 著者        Gao S, Hu S, Duan H, Wang L, Kong X
 タイトル      Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.
 雑誌        BMC Med Genet 21:131 (2020)
 DOI:10.1186/s12881-020-01063-5
 PMID:29636373 (AGMX2)
 著者        Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V, Speckmann C, Engels N, Warnatz K, Wienands J
 タイトル      Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
 雑誌        J Exp Med 215:1327-1336 (2018)
 DOI:10.1084/jem.20170534
 PMID:8890099 (AGM1)
 著者        Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, Kitchingman GR, Campana D, Rohrer J, Conley ME
 タイトル      Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
 雑誌        N Engl J Med 335:1486-93 (1996)
 DOI:10.1056/NEJM199611143352003
 PMID:9419212 (AGM2)
 著者        Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME
 タイトル      Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.
 雑誌        J Exp Med 187:71-7 (1998)
 DOI:10.1084/jem.187.1.71
 PMID:10525050 (AGM3)
 著者        Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley ME
 タイトル      Mutations in Igalpha (CD79a) result in a complete block in B-cell development.
 雑誌        J Clin Invest 104:1115-21 (1999)
 DOI:10.1172/JCI7696
 PMID:24582315 (AGM4)
 著者        Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, Andre-Schmutz I, Schiff C
 タイトル      The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.
 雑誌        J Allergy Clin Immunol 134:145-54 (2014)
 DOI:10.1016/j.jaci.2013.12.1083
 PMID:14660746 (AGM5)
 著者        Sawada A, Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, Kubota K, Endo H, Onodera T, Ohta H, Ozono K, Hara J
 タイトル      A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.
 雑誌        J Clin Invest 112:1707-13 (2003)
 DOI:10.1172/JCI18937
 PMID:17675462 (AGM6)
 著者        Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME
 タイトル      Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.
 雑誌        J Immunol 179:2055-9 (2007)
 DOI:10.4049/jimmunol.179.4.2055
 PMID:22351933 (AGM7)
 著者        Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, Smith AM, Perez EE, Murray PJ
 タイトル      Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K.
 雑誌        J Exp Med 209:463-70 (2012)
 DOI:10.1084/jem.20112533
 PMID:24216514 (AGM8)
 著者        Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME
 タイトル      A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
 雑誌        J Clin Invest 123:4781-5 (2013)
 DOI:10.1172/JCI71927
 PMID:30718914 (AGM9)
 著者        Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S
 タイトル      An essential role for the Zn(2+) transporter ZIP7 in B cell development.
 雑誌        Nat Immunol 20:350-361 (2019)
 DOI:10.1038/s41590-018-0295-8
 PMID:33951726 (AGM10)
 著者        Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N
 タイトル      Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
 雑誌        J Exp Med 218:e20201750 (2021)
 DOI:10.1084/jem.20201750","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00085"">H00085</a>","無ガンマグロブリン血症
 下位グループ    X連鎖無ガンマグロブリン血症 (AGMX)
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly reduced or absent B cells in the peripheral circulation, and (in the bone marrow) a severe block in B cell differentiation before the production of surface immunoglobulin-positive B cells. Mutations in Btk, the gene responsible for X-linked agammaglobulinemia (XLA), account for approximately 85% of affected patients. Approximately half of the remaining patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); and lambda 5 (IGLL1), which forms the surrogate light chain with Vpre-B. A small number of patients with defects in BLNK, a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported.",,"(AGMX1) BTK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:695"">695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07370"">K07370</a>]
 (AGMX2) SH3KBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30011"">30011</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12470"">K12470</a>]
 (AGM2) IGLL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3543"">3543</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06554"">K06554</a>]
 (AGM3) CD79A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:973"">973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06506"">K06506</a>]
 (AGM4) BLNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29760"">29760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07371"">K07371</a>]
 (AGM5) LRRC8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56262"">56262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22038"">K22038</a>]
 (AGM6) CD79B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:974"">974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06507"">K06507</a>]
 (AGM7) PIK3R1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5295"">5295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02649"">K02649</a>]
 (AGM8) TCF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6929"">6929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09063"">K09063</a>]
 (AGM9) SLC39A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7922"">7922</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14713"">K14713</a>]
 (AGM10) SPI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6688"">6688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09438"">K09438</a>]",,,,"人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06458"">D06458</a>]
 pH4処理酸性人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08779"">D08779</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥イオン交換樹脂処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08785"">D08785</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]
 乾燥ペプシン処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08787"">D08787</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]",AGM1 is caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM).,"ICD-11: 4A01.00
 ICD-10: D80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000361"">D000361</a>
 OMIM: <a href=""https://www.omim.org/entry/300755"">300755</a> <a href=""https://www.omim.org/entry/300310"">300310</a> <a href=""https://www.omim.org/entry/601495"">601495</a> <a href=""https://www.omim.org/entry/613500"">613500</a> <a href=""https://www.omim.org/entry/613501"">613501</a> <a href=""https://www.omim.org/entry/613502"">613502</a> <a href=""https://www.omim.org/entry/613506"">613506</a> <a href=""https://www.omim.org/entry/612692"">612692</a> <a href=""https://www.omim.org/entry/615214"">615214</a> <a href=""https://www.omim.org/entry/616941"">616941</a> <a href=""https://www.omim.org/entry/619693"">619693</a> <a href=""https://www.omim.org/entry/619707"">619707</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19302039"">19302039</a>
 著者        Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D
 タイトル      Primary B cell immunodeficiencies: comparisons and contrasts.
 雑誌        Annu Rev Immunol 27:199-227 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.immunol.021908.132649"">10.1146/annurev.immunol.021908.132649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32552675"">32552675</a> (AGMX1)
 著者        Gao S, Hu S, Duan H, Wang L, Kong X
 タイトル      Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.
 雑誌        BMC Med Genet 21:131 (2020)
 DOI:<a href=""https://doi.org/10.1186/s12881-020-01063-5"">10.1186/s12881-020-01063-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29636373"">29636373</a> (AGMX2)
 著者        Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V, Speckmann C, Engels N, Warnatz K, Wienands J
 タイトル      Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
 雑誌        J Exp Med 215:1327-1336 (2018)
 DOI:<a href=""https://doi.org/10.1084/jem.20170534"">10.1084/jem.20170534</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8890099"">8890099</a> (AGM1)
 著者        Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, Kitchingman GR, Campana D, Rohrer J, Conley ME
 タイトル      Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
 雑誌        N Engl J Med 335:1486-93 (1996)
 DOI:<a href=""https://doi.org/10.1056/NEJM199611143352003"">10.1056/NEJM199611143352003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9419212"">9419212</a> (AGM2)
 著者        Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME
 タイトル      Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.
 雑誌        J Exp Med 187:71-7 (1998)
 DOI:<a href=""https://doi.org/10.1084/jem.187.1.71"">10.1084/jem.187.1.71</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10525050"">10525050</a> (AGM3)
 著者        Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley ME
 タイトル      Mutations in Igalpha (CD79a) result in a complete block in B-cell development.
 雑誌        J Clin Invest 104:1115-21 (1999)
 DOI:<a href=""https://doi.org/10.1172/JCI7696"">10.1172/JCI7696</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24582315"">24582315</a> (AGM4)
 著者        Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, Andre-Schmutz I, Schiff C
 タイトル      The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.
 雑誌        J Allergy Clin Immunol 134:145-54 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2013.12.1083"">10.1016/j.jaci.2013.12.1083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14660746"">14660746</a> (AGM5)
 著者        Sawada A, Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, Kubota K, Endo H, Onodera T, Ohta H, Ozono K, Hara J
 タイトル      A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.
 雑誌        J Clin Invest 112:1707-13 (2003)
 DOI:<a href=""https://doi.org/10.1172/JCI18937"">10.1172/JCI18937</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17675462"">17675462</a> (AGM6)
 著者        Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME
 タイトル      Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.
 雑誌        J Immunol 179:2055-9 (2007)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.179.4.2055"">10.4049/jimmunol.179.4.2055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22351933"">22351933</a> (AGM7)
 著者        Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, Smith AM, Perez EE, Murray PJ
 タイトル      Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K.
 雑誌        J Exp Med 209:463-70 (2012)
 DOI:<a href=""https://doi.org/10.1084/jem.20112533"">10.1084/jem.20112533</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24216514"">24216514</a> (AGM8)
 著者        Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME
 タイトル      A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
 雑誌        J Clin Invest 123:4781-5 (2013)
 DOI:<a href=""https://doi.org/10.1172/JCI71927"">10.1172/JCI71927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30718914"">30718914</a> (AGM9)
 著者        Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S
 タイトル      An essential role for the Zn(2+) transporter ZIP7 in B cell development.
 雑誌        Nat Immunol 20:350-361 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41590-018-0295-8"">10.1038/s41590-018-0295-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33951726"">33951726</a> (AGM10)
 著者        Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N
 タイトル      Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
 雑誌        J Exp Med 218:e20201750 (2021)
 DOI:<a href=""https://doi.org/10.1084/jem.20201750"">10.1084/jem.20201750</a>"
H00086,"高 IgM 症候群 (常染色体劣性型)
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (b), hyper-IgM syndrome (HIM), represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. Seventy per cent of the cases are X-linked in inheritance, and others are autosomal recessive. In the autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell development and antibody production. Patients with these syndromes typically have recurrent bacterial infections and often have lymphoid hyperplasia.",免疫系疾患,,"(HIGM1) CD40LG [HSA:959] [KO:K03161]
 (HIGM2) AICDA [HSA:57379] [KO:K10989]
 (HIGM3) CD40 [HSA:958] [KO:K03160]
 (HIGM5) UNG [HSA:7374] [KO:K03648]",,,,,,"ICD-11: 4A01.05
 ICD-10: D80
 MeSH: D053306
 OMIM: 308230 605258 606843 608106","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:26903548 (CD40LG)
 著者        Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
 タイトル      Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
 雑誌        Blood 127:2513-22 (2016)
 DOI:10.1182/blood-2015-11-683235
 PMID:11007475 (AICDA)
 著者        Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A
 タイトル      Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
 雑誌        Cell 102:565-75 (2000)
 DOI:10.1016/s0092-8674(00)00079-9
 PMID:9842907 (CD40)
 著者        Revy P, Geissmann F, Debre M, Fischer A, Durandy A
 タイトル      Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.
 雑誌        Eur J Immunol 28:3648-54 (1998)
 DOI:10.1002/(SICI)1521-4141(199811)28:11<3648::AID-IMMU3648>3.0.CO;2-U
 PMID:12958596 (UNG)
 著者        Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A
 タイトル      Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
 雑誌        Nat Immunol 4:1023-8 (2003)
 DOI:10.1038/ni974","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00086"">H00086</a>","高 IgM 症候群 (常染色体劣性型)
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (b), hyper-IgM syndrome (HIM), represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. Seventy per cent of the cases are X-linked in inheritance, and others are autosomal recessive. In the autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell development and antibody production. Patients with these syndromes typically have recurrent bacterial infections and often have lymphoid hyperplasia.",,"(HIGM1) CD40LG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:959"">959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03161"">K03161</a>]
 (HIGM2) AICDA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57379"">57379</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10989"">K10989</a>]
 (HIGM3) CD40 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:958"">958</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03160"">K03160</a>]
 (HIGM5) UNG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7374"">7374</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03648"">K03648</a>]",,,,,,"ICD-11: 4A01.05
 ICD-10: D80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053306"">D053306</a>
 OMIM: <a href=""https://www.omim.org/entry/308230"">308230</a> <a href=""https://www.omim.org/entry/605258"">605258</a> <a href=""https://www.omim.org/entry/606843"">606843</a> <a href=""https://www.omim.org/entry/608106"">608106</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26903548"">26903548</a> (CD40LG)
 著者        Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
 タイトル      Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
 雑誌        Blood 127:2513-22 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-11-683235"">10.1182/blood-2015-11-683235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11007475"">11007475</a> (AICDA)
 著者        Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A
 タイトル      Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
 雑誌        Cell 102:565-75 (2000)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)00079-9"">10.1016/s0092-8674(00)00079-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9842907"">9842907</a> (CD40)
 著者        Revy P, Geissmann F, Debre M, Fischer A, Durandy A
 タイトル      Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.
 雑誌        Eur J Immunol 28:3648-54 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1521-4141(199811)28:"">10.1002/(SICI)1521-4141(199811)28:</a><a href=""https://doi.org/11<3648:"">11<3648:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-IMMU3648>3.0.CO;2-U"">AID-IMMU3648>3.0.CO;2-U</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12958596"">12958596</a> (UNG)
 著者        Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A
 タイトル      Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
 雑誌        Nat Immunol 4:1023-8 (2003)
 DOI:<a href=""https://doi.org/10.1038/ni974"">10.1038/ni974</a>"
H00087,"他の体液性免疫不全症
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction or absence of two or more Ig isotypes. This leads to severe immunodeficiency and death due to infection often before adulthood. Deficiencies of B-cell receptors are caused by mutations in the genes that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin heavy-chain genes (such as gamma1, 2, 3, or 4; alpha1 or 2; and epsilon) cause deficiencies of individual classes or subclasses of immunoglobulins, but circulating B cells are present and overall antibody function is usually normal. Mutations in the kappa light-chain gene result in a population of immunoglobulin molecules with only lambda light chains instead of the usual mixture of kappa and lambda types.",免疫系疾患,,"DNMT3B [HSA:1789] [KO:K17399]
 IGKC
 Ig heavy chain",,,,,,"ICD-11: 4A01.1Y
 ICD-10: D80
 MeSH: C537362","PMID:11058677
 著者        Buckley RH.
 タイトル      Primary immunodeficiency diseases due to defects in lymphocytes.
 雑誌        N Engl J Med 343:1313-24 (2000)
 DOI:10.1056/NEJM200011023431806
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00087"">H00087</a>","他の体液性免疫不全症
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction or absence of two or more Ig isotypes. This leads to severe immunodeficiency and death due to infection often before adulthood. Deficiencies of B-cell receptors are caused by mutations in the genes that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin heavy-chain genes (such as gamma1, 2, 3, or 4; alpha1 or 2; and epsilon) cause deficiencies of individual classes or subclasses of immunoglobulins, but circulating B cells are present and overall antibody function is usually normal. Mutations in the kappa light-chain gene result in a population of immunoglobulin molecules with only lambda light chains instead of the usual mixture of kappa and lambda types.",,"DNMT3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1789"">1789</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17399"">K17399</a>]
 IGKC
 Ig heavy chain",,,,,,"ICD-11: 4A01.1Y
 ICD-10: D80
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537362"">C537362</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11058677"">11058677</a>
 著者        Buckley RH.
 タイトル      Primary immunodeficiency diseases due to defects in lymphocytes.
 雑誌        N Engl J Med 343:1313-24 (2000)
 DOI:<a href=""https://doi.org/10.1056/NEJM200011023431806"">10.1056/NEJM200011023431806</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00088,"分類不能型免疫不全症
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia. CVID is characterized by recurrent bacterial infections, decreased serum Ig levels, and abnormal antibody responses. The mutated genes that produce the CVID phenotype are known only for a minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause of disease. Heterozygous mutations in the TNF receptor family member TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor) can be found in up to 10% of patients with CVID.",免疫系疾患,,"(CVID1) ICOS [HSA:29851] [KO:K06713]
 (CVID2) TACI [HSA:23495] [KO:K05150]
 (CVID3) CD19 [HSA:930] [KO:K06465]
 (CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
 (CVID5) MS4A1 [HSA:931] [KO:K06466]
 (CVID6) CD81 [HSA:975] [KO:K06508]
 (CVID7) CR2 [HSA:1380] [KO:K04012]
 (CVID8) LRBA [HSA:987] [KO:K24181]
 (CVID10) NFKB2 [HSA:4791] [KO:K04469]
 (CVID11) IL21 [HSA:59067] [KO:K05434]
 (CVID12) NFKB1 [HSA:4790] [KO:K02580]
 (CVID13) IKZF1 [HSA:10320] [KO:K09220]
 (CVID14) IRF2BP2 [HSA:359948] [KO:K22383]",,,,,,"ICD-11: 4A01.0Z
 ICD-10: D80
 MeSH: D017074
 OMIM: 607594 240500 609529 613493 613494 613495 613496 614699 614700 615577 615767 616576 616873 617765","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:22236429
 著者        Park JH, Resnick ES, Cunningham-Rundles C
 タイトル      Perspectives on common variable immune deficiency.
 雑誌        Ann N Y Acad Sci 1246:41-9 (2011)
 DOI:10.1111/j.1749-6632.2011.06338.x
 PMID:22035880
 著者        Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M
 タイトル      Genetic CD21 deficiency is associated with hypogammaglobulinemia.
 雑誌        J Allergy Clin Immunol 129:801-810.e6 (2012)
 DOI:10.1016/j.jaci.2011.09.027
 PMID:25468195
 著者        Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA
 タイトル      Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
 雑誌        J Allergy Clin Immunol 135:217-27 (2015)
 DOI:10.1016/j.jaci.2014.10.019
 PMID:24140114
 著者        Chen K, Coonrod EM, Kumanovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV
 タイトル      Germline mutations in NFKB2 implicate the noncanonical NF-kappaB pathway in the pathogenesis of common variable immunodeficiency.
 雑誌        Am J Hum Genet 93:812-24 (2013)
 DOI:10.1016/j.ajhg.2013.09.009
 PMID:24746753
 著者        Salzer E, Kansu A, Sic H, Majek P, Ikinciogullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloglu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K
 タイトル      Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
 雑誌        J Allergy Clin Immunol 133:1651-9.e12 (2014)
 DOI:10.1016/j.jaci.2014.02.034
 PMID:26279205
 著者        Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schaffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B
 タイトル      Haploinsufficiency of the NF-kappaB1 Subunit p50 in Common Variable Immunodeficiency.
 雑誌        Am J Hum Genet 97:389-403 (2015)
 DOI:10.1016/j.ajhg.2015.07.008
 PMID:21548011
 著者        Goldman FD, Gurel Z, Al-Zubeidi D, Fried AJ, Icardi M, Song C, Dovat S
 タイトル      Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene.
 雑誌        Pediatr Blood Cancer 58:591-7 (2012)
 DOI:10.1002/pbc.23160
 PMID:27016798
 著者        Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H
 タイトル      Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
 雑誌        J Allergy Clin Immunol 138:544-550.e4 (2016)
 DOI:10.1016/j.jaci.2016.01.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00088"">H00088</a>","分類不能型免疫不全症
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia. CVID is characterized by recurrent bacterial infections, decreased serum Ig levels, and abnormal antibody responses. The mutated genes that produce the CVID phenotype are known only for a minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause of disease. Heterozygous mutations in the TNF receptor family member TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor) can be found in up to 10% of patients with CVID.",,"(CVID1) ICOS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29851"">29851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06713"">K06713</a>]
 (CVID2) TACI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23495"">23495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05150"">K05150</a>]
 (CVID3) CD19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:930"">930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06465"">K06465</a>]
 (CVID4) TNFRSF13C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:115650"">115650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05151"">K05151</a>]
 (CVID5) MS4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:931"">931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06466"">K06466</a>]
 (CVID6) CD81 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:975"">975</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06508"">K06508</a>]
 (CVID7) CR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1380"">1380</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04012"">K04012</a>]
 (CVID8) LRBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:987"">987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24181"">K24181</a>]
 (CVID10) NFKB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4791"">4791</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04469"">K04469</a>]
 (CVID11) IL21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59067"">59067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05434"">K05434</a>]
 (CVID12) NFKB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4790"">4790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02580"">K02580</a>]
 (CVID13) IKZF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10320"">10320</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09220"">K09220</a>]
 (CVID14) IRF2BP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:359948"">359948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22383"">K22383</a>]",,,,,,"ICD-11: 4A01.0Z
 ICD-10: D80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017074"">D017074</a>
 OMIM: <a href=""https://www.omim.org/entry/607594"">607594</a> <a href=""https://www.omim.org/entry/240500"">240500</a> <a href=""https://www.omim.org/entry/609529"">609529</a> <a href=""https://www.omim.org/entry/613493"">613493</a> <a href=""https://www.omim.org/entry/613494"">613494</a> <a href=""https://www.omim.org/entry/613495"">613495</a> <a href=""https://www.omim.org/entry/613496"">613496</a> <a href=""https://www.omim.org/entry/614699"">614699</a> <a href=""https://www.omim.org/entry/614700"">614700</a> <a href=""https://www.omim.org/entry/615577"">615577</a> <a href=""https://www.omim.org/entry/615767"">615767</a> <a href=""https://www.omim.org/entry/616576"">616576</a> <a href=""https://www.omim.org/entry/616873"">616873</a> <a href=""https://www.omim.org/entry/617765"">617765</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22236429"">22236429</a>
 著者        Park JH, Resnick ES, Cunningham-Rundles C
 タイトル      Perspectives on common variable immune deficiency.
 雑誌        Ann N Y Acad Sci 1246:41-9 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2011.06338.x"">10.1111/j.1749-6632.2011.06338.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22035880"">22035880</a>
 著者        Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M
 タイトル      Genetic CD21 deficiency is associated with hypogammaglobulinemia.
 雑誌        J Allergy Clin Immunol 129:801-810.e6 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2011.09.027"">10.1016/j.jaci.2011.09.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25468195"">25468195</a>
 著者        Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA
 タイトル      Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
 雑誌        J Allergy Clin Immunol 135:217-27 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2014.10.019"">10.1016/j.jaci.2014.10.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24140114"">24140114</a>
 著者        Chen K, Coonrod EM, Kumanovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV
 タイトル      Germline mutations in NFKB2 implicate the noncanonical NF-kappaB pathway in the pathogenesis of common variable immunodeficiency.
 雑誌        Am J Hum Genet 93:812-24 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.009"">10.1016/j.ajhg.2013.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24746753"">24746753</a>
 著者        Salzer E, Kansu A, Sic H, Majek P, Ikinciogullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloglu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K
 タイトル      Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
 雑誌        J Allergy Clin Immunol 133:1651-9.e12 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2014.02.034"">10.1016/j.jaci.2014.02.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26279205"">26279205</a>
 著者        Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schaffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B
 タイトル      Haploinsufficiency of the NF-kappaB1 Subunit p50 in Common Variable Immunodeficiency.
 雑誌        Am J Hum Genet 97:389-403 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.008"">10.1016/j.ajhg.2015.07.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21548011"">21548011</a>
 著者        Goldman FD, Gurel Z, Al-Zubeidi D, Fried AJ, Icardi M, Song C, Dovat S
 タイトル      Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene.
 雑誌        Pediatr Blood Cancer 58:591-7 (2012)
 DOI:<a href=""https://doi.org/10.1002/pbc.23160"">10.1002/pbc.23160</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27016798"">27016798</a>
 著者        Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H
 タイトル      Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
 雑誌        J Allergy Clin Immunol 138:544-550.e4 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2016.01.018"">10.1016/j.jaci.2016.01.018</a>"
H00089,"IFN-gamma/IL-12 軸;
 メンデル遺伝型マイコバクテリア易感染症 (MSMD)
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling.",原発性免疫不全症候群,,"IL12B [HSA:3593] [KO:K05425]
 IL12RB1 [HSA:3594] [KO:K05063]
 IFNGR1 [HSA:3459] [KO:K05132]
 IFNGR2 [HSA:3460] [KO:K05133]
 STAT1 [HSA:6772] [KO:K11220]
 IRF8 [HSA:3394] [KO:K10155]
 ISG15 [HSA:9636] [KO:K12159]
 RORC [HSA:6097] [KO:K08534]
 IKBKG [HSA:8517] [KO:K07210]
 CYBB [HSA:1536] [KO:K21421]",,,,,,"ICD-11: 4A00.2
 ICD-10: D84.8
 OMIM: 614890 614891 209950 615978 614889 614892 613796 614162 614893 226990 616126 616622 300636 300645","PMID:15100664
 著者        Rosenzweig SD, Holland SM
 タイトル      Phagocyte immunodeficiencies and their infections.
 雑誌        J Allergy Clin Immunol 113:620-6 (2004)
 DOI:10.1016/j.jaci.2004.02.001
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:26482257
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:10.1007/s10875-015-0201-1
 PMID:19084105
 著者        Al-Muhsen S, Casanova JL
 タイトル      The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
 雑誌        J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008)
 DOI:10.1016/j.jaci.2008.10.037
 PMID:17293536
 著者        Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL
 タイトル      A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
 雑誌        J Med Genet 44:e65 (2007)
 DOI:10.1136/jmg.2006.043406","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00089"">H00089</a>","IFN-gamma/IL-12 軸;
 メンデル遺伝型マイコバクテリア易感染症 (MSMD)
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling.",,"IL12B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3593"">3593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05425"">K05425</a>]
 IL12RB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3594"">3594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05063"">K05063</a>]
 IFNGR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3459"">3459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05132"">K05132</a>]
 IFNGR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3460"">3460</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05133"">K05133</a>]
 STAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6772"">6772</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11220"">K11220</a>]
 IRF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3394"">3394</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10155"">K10155</a>]
 ISG15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9636"">9636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12159"">K12159</a>]
 RORC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6097"">6097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08534"">K08534</a>]
 IKBKG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8517"">8517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07210"">K07210</a>]
 CYBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1536"">1536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21421"">K21421</a>]",,,,,,"ICD-11: 4A00.2
 ICD-10: D84.8
 OMIM: <a href=""https://www.omim.org/entry/614890"">614890</a> <a href=""https://www.omim.org/entry/614891"">614891</a> <a href=""https://www.omim.org/entry/209950"">209950</a> <a href=""https://www.omim.org/entry/615978"">615978</a> <a href=""https://www.omim.org/entry/614889"">614889</a> <a href=""https://www.omim.org/entry/614892"">614892</a> <a href=""https://www.omim.org/entry/613796"">613796</a> <a href=""https://www.omim.org/entry/614162"">614162</a> <a href=""https://www.omim.org/entry/614893"">614893</a> <a href=""https://www.omim.org/entry/226990"">226990</a> <a href=""https://www.omim.org/entry/616126"">616126</a> <a href=""https://www.omim.org/entry/616622"">616622</a> <a href=""https://www.omim.org/entry/300636"">300636</a> <a href=""https://www.omim.org/entry/300645"">300645</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15100664"">15100664</a>
 著者        Rosenzweig SD, Holland SM
 タイトル      Phagocyte immunodeficiencies and their infections.
 雑誌        J Allergy Clin Immunol 113:620-6 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2004.02.001"">10.1016/j.jaci.2004.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26482257"">26482257</a>
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10875-015-0201-1"">10.1007/s10875-015-0201-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19084105"">19084105</a>
 著者        Al-Muhsen S, Casanova JL
 タイトル      The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
 雑誌        J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2008.10.037"">10.1016/j.jaci.2008.10.037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17293536"">17293536</a>
 著者        Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL
 タイトル      A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
 雑誌        J Med Genet 44:e65 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.043406"">10.1136/jmg.2006.043406</a>"
H00090,"NK細胞障害
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination.",原発性免疫不全症候群,,FCGR3A [HSA:2214] [KO:K06463],,,,,,ICD-11: 4A00.3,"PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:8874200
 著者        de Vries E, Koene HR, Vossen JM, Gratama JW, von dem Borne AE, Waaijer JL, Haraldsson A, de Haas M, van Tol MJ
 タイトル      Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.
 雑誌        Blood 88:3022-7 (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00090"">H00090</a>","NK細胞障害
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination.",,"FCGR3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2214"">2214</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06463"">K06463</a>]",,,,,,ICD-11: 4A00.3,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8874200"">8874200</a>
 著者        de Vries E, Koene HR, Vossen JM, Gratama JW, von dem Borne AE, Waaijer JL, Haraldsson A, de Haas M, van Tol MJ
 タイトル      Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections.
 雑誌        Blood 88:3022-7 (1996)"
H00091,"T-B+ 重症複合免疫不全症
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with lack of circulating T cells but a normal number of B cells accounts for 30 to 50% of all cases of human SCIDs. The most frequent form of SCID, X-linked SCID (SCID-X1), is caused by mutations in the gamma-chain-encoding gene. Gamma-chain is a common subunit shared by several cytokine receptors. It results in an absence of both mature T lymphocytes and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in CD3 delta, CD3 epsilon and CD3 zeta have also been described.",原発性免疫不全症候群,,"IL2RG [HSA:3561] [KO:K05070]
 JAK3 [HSA:3718] [KO:K11218]
 IL7R [HSA:3575] [KO:K05072]
 PTPRC [HSA:5788] [KO:K06478]
 CD3D [HSA:915] [KO:K06450]
 CD3E [HSA:916] [KO:K06451]
 CD247 [HSA:919] [KO:K06453]
 CORO1A [HSA:11151] [KO:K13882]
 BCL11B [HSA:64919] [KO:K22046]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: D053632
 OMIM: 608971 300400 606367 610163 615401 617237","PMID:15661024
 著者        Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M.
 タイトル      Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
 雑誌        Immunol Rev 203:98-109 (2005)
 DOI:10.1111/j.0105-2896.2005.00223.x
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:26482257 (IL2RG, JAK3, IL7R, PTPRC, CD3D, CD3E, CD247, CORO1A)
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:10.1007/s10875-015-0201-1
 PMID:27959755 (BCL11B)
 著者        Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM
 タイトル      Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
 雑誌        N Engl J Med 375:2165-2176 (2016)
 DOI:10.1056/NEJMoa1509164","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00091"">H00091</a>","T-B+ 重症複合免疫不全症
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with lack of circulating T cells but a normal number of B cells accounts for 30 to 50% of all cases of human SCIDs. The most frequent form of SCID, X-linked SCID (SCID-X1), is caused by mutations in the gamma-chain-encoding gene. Gamma-chain is a common subunit shared by several cytokine receptors. It results in an absence of both mature T lymphocytes and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in CD3 delta, CD3 epsilon and CD3 zeta have also been described.",,"IL2RG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3561"">3561</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05070"">K05070</a>]
 JAK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3718"">3718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11218"">K11218</a>]
 IL7R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3575"">3575</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05072"">K05072</a>]
 PTPRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5788"">5788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06478"">K06478</a>]
 CD3D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:915"">915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06450"">K06450</a>]
 CD3E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:916"">916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06451"">K06451</a>]
 CD247 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:919"">919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06453"">K06453</a>]
 CORO1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11151"">11151</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13882"">K13882</a>]
 BCL11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64919"">64919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22046"">K22046</a>]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053632"">D053632</a>
 OMIM: <a href=""https://www.omim.org/entry/608971"">608971</a> <a href=""https://www.omim.org/entry/300400"">300400</a> <a href=""https://www.omim.org/entry/606367"">606367</a> <a href=""https://www.omim.org/entry/610163"">610163</a> <a href=""https://www.omim.org/entry/615401"">615401</a> <a href=""https://www.omim.org/entry/617237"">617237</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15661024"">15661024</a>
 著者        Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M.
 タイトル      Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
 雑誌        Immunol Rev 203:98-109 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0105-2896.2005.00223.x"">10.1111/j.0105-2896.2005.00223.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26482257"">26482257</a> (IL2RG, <a href=""https://pubmed.ncbi.nlm.nih.gov/JAK3,"">JAK3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IL7R,"">IL7R,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PTPRC,"">PTPRC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD3D,"">CD3D,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD3E,"">CD3E,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD247,"">CD247,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CORO1A)"">CORO1A)</a>
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10875-015-0201-1"">10.1007/s10875-015-0201-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27959755"">27959755</a> (BCL11B)
 著者        Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM
 タイトル      Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
 雑誌        N Engl J Med 375:2165-2176 (2016)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1509164"">10.1056/NEJMoa1509164</a>"
H00092,"T-B- 重症複合免疫不全症
 下位グループ    アデノシンデアミナーゼ欠損症 [DS:H02309]
 細網異形成症 [DS:H01128]
 Omenn 症候群 [DS:H02554]
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells, T cells, and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation at the stage of pro-B and pre-T cells, respectively, whereas natural killer (NK)-cell maturation is not affected. V(D)J recombination generates the diversity of B- and T-cell primary immune repertoires.",原発性免疫不全症候群,,"ADA [HSA:100] [KO:K01488]
 RAG1 [HSA:5896] [KO:K10628]
 RAG2 [HSA:5897] [KO:K10988]
 DCLRE1C [HSA:64421] [KO:K10887]
 AK2 [HSA:204] [KO:K00939]
 PRKDC [HSA:5591] [KO:K06642]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: C563440
 OMIM: 102700 601457 602450 267500 615966","PMID:14647478
 著者        de Villartay JP, Fischer A, Durandy A.
 タイトル      The mechanisms of immune diversification and their disorders.
 雑誌        Nat Rev Immunol 3:962-72 (2003)
 DOI:10.1038/nri1247
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:26482257
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:10.1007/s10875-015-0201-1
 PMID:17952897 (RAG1, RAG2, DCLRE1C, ADA)
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:19043417 (AK2)
 著者        Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
 タイトル      Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
 雑誌        Nat Genet 41:101-5 (2009)
 DOI:10.1038/ng.265
 PMID:19075392 (PRKDC)
 著者        van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC
 タイトル      A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
 雑誌        J Clin Invest 119:91-8 (2009)
 DOI:10.1172/JCI37141","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00092"">H00092</a>","T-B- 重症複合免疫不全症
 下位グループ    アデノシンデアミナーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02309"">H02309</a>]
 細網異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01128"">H01128</a>]
 Omenn 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02554"">H02554</a>]
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells, T cells, and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation at the stage of pro-B and pre-T cells, respectively, whereas natural killer (NK)-cell maturation is not affected. V(D)J recombination generates the diversity of B- and T-cell primary immune repertoires.",,"ADA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100"">100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01488"">K01488</a>]
 RAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5896"">5896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10628"">K10628</a>]
 RAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5897"">5897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10988"">K10988</a>]
 DCLRE1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64421"">64421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10887"">K10887</a>]
 AK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:204"">204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00939"">K00939</a>]
 PRKDC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5591"">5591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06642"">K06642</a>]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563440"">C563440</a>
 OMIM: <a href=""https://www.omim.org/entry/102700"">102700</a> <a href=""https://www.omim.org/entry/601457"">601457</a> <a href=""https://www.omim.org/entry/602450"">602450</a> <a href=""https://www.omim.org/entry/267500"">267500</a> <a href=""https://www.omim.org/entry/615966"">615966</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14647478"">14647478</a>
 著者        de Villartay JP, Fischer A, Durandy A.
 タイトル      The mechanisms of immune diversification and their disorders.
 雑誌        Nat Rev Immunol 3:962-72 (2003)
 DOI:<a href=""https://doi.org/10.1038/nri1247"">10.1038/nri1247</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26482257"">26482257</a>
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10875-015-0201-1"">10.1007/s10875-015-0201-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a> (RAG1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RAG2,"">RAG2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/DCLRE1C,"">DCLRE1C,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ADA)"">ADA)</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19043417"">19043417</a> (AK2)
 著者        Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
 タイトル      Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
 雑誌        Nat Genet 41:101-5 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.265"">10.1038/ng.265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19075392"">19075392</a> (PRKDC)
 著者        van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC
 タイトル      A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
 雑誌        J Clin Invest 119:91-8 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI37141"">10.1172/JCI37141</a>"
H00093,"複合免疫不全症
 下位グループ    露出リンパ球症候群 1型 [DS:H00984]
 露出リンパ球症候群 2型 [DS:H00985]
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx.",原発性免疫不全症候群,,"CD40LG (TNFSF5) [HSA:959] [KO:K03161]
 CD40 [HSA:958] [KO:K03160]
 PNP [HSA:4860] [KO:K03783]
 CD8A [HSA:925] [KO:K06458]
 (IMD9) ORAI1 [HSA:84876] [KO:K16056]
 (IMD10) STIM1 [HSA:6786] [KO:K16059]
 (IMD11) CARD11 [HSA:84433] [KO:K07367]
 (IMD12) MALT1 [HSA:10892] [KO:K07369]
 (IMD15) IKBKB [HSA:3551] [KO:K07209]
 (IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
 (IMD17) CD3G [HSA:917] [KO:K06452]
 (IMD22) LCK [HSA:3932] [KO:K05856]
 (IMD24) CTPS1 [HSA:1503] [KO:K01937]
 (IMD37) BCL10 [HSA:8915] [KO:K07368]
 (IMD40) DOCK2 [HSA:1794] [KO:K12367]
 (IMD48) ZAP70 [HSA:7535] [KO:K07360]
 (IMD55) GINS1 [HSA:9837] [KO:K10732]
 (IMD59) HYOU1 [HSA:10525] [KO:K09486]
 (IMD85) TOM1 [HSA:10043]",,,,,,"ICD-11: 4A01.1
 ICD-10: D81
 MeSH: D053632
 OMIM: 308230 606843 613179 608957 612782 612783 615206 617638 615468 618204 615592 615593 615607 615758 615897 616098 616433 617827 233600 619510","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:20004777 (CD40LG, CD40, CD3G, CD8A, ZAP70)
 著者        Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J
 タイトル      Primary immunodeficiencies: 2009 update.
 雑誌        J Allergy Clin Immunol 124:1161-78 (2009)
 DOI:10.1016/j.jaci.2009.10.013
 PMID:30885031 (PNP)
 著者        Fekrvand S, Yazdani R, Abolhassani H, Ghaffari J, Aghamohammadi A
 タイトル      The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
 雑誌        Immunol Invest 48:410-430 (2019)
 DOI:10.1080/08820139.2019.1570249
 PMID:20189884 (ORAI1, STIM1)
 著者        Feske S, Picard C, Fischer A
 タイトル      Immunodeficiency due to mutations in ORAI1 and STIM1.
 雑誌        Clin Immunol 135:169-82 (2010)
 DOI:10.1016/j.clim.2010.01.011
 PMID:23374270 (CARD11)
 著者        Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K
 タイトル      Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
 雑誌        J Allergy Clin Immunol 131:477-85.e1 (2013)
 DOI:10.1016/j.jaci.2012.11.050
 PMID:23727036 (MALT1)
 著者        Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS
 タイトル      A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
 雑誌        J Allergy Clin Immunol 132:151-8 (2013)
 DOI:10.1016/j.jaci.2013.04.047
 PMID:30337470 (IKBKB)
 著者        Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC
 タイトル      Gain-of-function IKBKB mutation causes human combined immune deficiency.
 雑誌        J Exp Med 215:2715-2724 (2018)
 DOI:10.1084/jem.20180639
 PMID:26215166 (TNFRSF4)
 著者        Webb GJ, Hirschfield GM, Lane PJ
 タイトル      OX40, OX40L and Autoimmunity: a Comprehensive Review.
 雑誌        Clin Rev Allergy Immunol 50:312-32 (2016)
 DOI:10.1007/s12016-015-8498-3
 PMID:22985903 (LCK)
 著者        Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C
 タイトル      Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
 雑誌        J Allergy Clin Immunol 130:1144-1152.e11 (2012)
 DOI:10.1016/j.jaci.2012.07.029
 PMID:24870241 (CTPS1)
 著者        Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S
 タイトル      CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
 雑誌        Nature 510:288-92 (2014)
 DOI:10.1038/nature13386
 PMID:25365219 (BCL10)
 著者        Torres JM, Martinez-Barricarte R, Garcia-Gomez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jimenez-Reinoso A, del Pino L, Rodriguez-Pena R, Ferreira A, Hernandez-Jimenez E, Toledano V, Cubillos-Zapata C, Diaz-Almiron M, Lopez-Collazo E, Unzueta-Roch JL, Sanchez-Ramon S, Regueiro JR, Lopez-Granados E, Casanova JL, Perez de Diego R
 タイトル      Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.
 雑誌        J Clin Invest 124:5239-48 (2014)
 DOI:10.1172/JCI77493
 PMID:26083206 (DOCK2)
 著者        Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Ciftci E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD
 タイトル      Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
 雑誌        N Engl J Med 372:2409-22 (2015)
 DOI:10.1056/NEJMoa1413462
 PMID:28414293 (GINS1)
 著者        Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E
 タイトル      Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
 雑誌        J Clin Invest 127:1991-2006 (2017)
 DOI:10.1172/JCI90727
 PMID:27913302 (HYOU1)
 著者        Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutskov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppanen M, Kere J
 タイトル      Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
 雑誌        J Allergy Clin Immunol 139:1391-1393.e11 (2017)
 DOI:10.1016/j.jaci.2016.09.050
 PMID:31263572 (TOM1)
 著者        Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppanen M, Kere J, Heiskanen K, Varjosalo M
 タイトル      Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
 雑誌        NPJ Genom Med 4:14 (2019)
 DOI:10.1038/s41525-019-0088-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00093"">H00093</a>","複合免疫不全症
 下位グループ    露出リンパ球症候群 1型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00984"">H00984</a>]
 露出リンパ球症候群 2型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00985"">H00985</a>]
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx.",,"CD40LG (TNFSF5) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:959"">959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03161"">K03161</a>]
 CD40 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:958"">958</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03160"">K03160</a>]
 PNP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4860"">4860</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03783"">K03783</a>]
 CD8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:925"">925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06458"">K06458</a>]
 (IMD9) ORAI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84876"">84876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16056"">K16056</a>]
 (IMD10) STIM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6786"">6786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16059"">K16059</a>]
 (IMD11) CARD11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84433"">84433</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07367"">K07367</a>]
 (IMD12) MALT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10892"">10892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07369"">K07369</a>]
 (IMD15) IKBKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3551"">3551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07209"">K07209</a>]
 (IMD16) TNFRSF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7293"">7293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05142"">K05142</a>]
 (IMD17) CD3G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:917"">917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06452"">K06452</a>]
 (IMD22) LCK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3932"">3932</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05856"">K05856</a>]
 (IMD24) CTPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1503"">1503</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01937"">K01937</a>]
 (IMD37) BCL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8915"">8915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07368"">K07368</a>]
 (IMD40) DOCK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1794"">1794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12367"">K12367</a>]
 (IMD48) ZAP70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7535"">7535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07360"">K07360</a>]
 (IMD55) GINS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9837"">9837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10732"">K10732</a>]
 (IMD59) HYOU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10525"">10525</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09486"">K09486</a>]
 (IMD85) TOM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10043"">10043</a>]",,,,,,"ICD-11: 4A01.1
 ICD-10: D81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053632"">D053632</a>
 OMIM: <a href=""https://www.omim.org/entry/308230"">308230</a> <a href=""https://www.omim.org/entry/606843"">606843</a> <a href=""https://www.omim.org/entry/613179"">613179</a> <a href=""https://www.omim.org/entry/608957"">608957</a> <a href=""https://www.omim.org/entry/612782"">612782</a> <a href=""https://www.omim.org/entry/612783"">612783</a> <a href=""https://www.omim.org/entry/615206"">615206</a> <a href=""https://www.omim.org/entry/617638"">617638</a> <a href=""https://www.omim.org/entry/615468"">615468</a> <a href=""https://www.omim.org/entry/618204"">618204</a> <a href=""https://www.omim.org/entry/615592"">615592</a> <a href=""https://www.omim.org/entry/615593"">615593</a> <a href=""https://www.omim.org/entry/615607"">615607</a> <a href=""https://www.omim.org/entry/615758"">615758</a> <a href=""https://www.omim.org/entry/615897"">615897</a> <a href=""https://www.omim.org/entry/616098"">616098</a> <a href=""https://www.omim.org/entry/616433"">616433</a> <a href=""https://www.omim.org/entry/617827"">617827</a> <a href=""https://www.omim.org/entry/233600"">233600</a> <a href=""https://www.omim.org/entry/619510"">619510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20004777"">20004777</a> (CD40LG, <a href=""https://pubmed.ncbi.nlm.nih.gov/CD40,"">CD40,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD3G,"">CD3G,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD8A,"">CD8A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ZAP70)"">ZAP70)</a>
 著者        Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J
 タイトル      Primary immunodeficiencies: 2009 update.
 雑誌        J Allergy Clin Immunol 124:1161-78 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2009.10.013"">10.1016/j.jaci.2009.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30885031"">30885031</a> (PNP)
 著者        Fekrvand S, Yazdani R, Abolhassani H, Ghaffari J, Aghamohammadi A
 タイトル      The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
 雑誌        Immunol Invest 48:410-430 (2019)
 DOI:<a href=""https://doi.org/10.1080/08820139.2019.1570249"">10.1080/08820139.2019.1570249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20189884"">20189884</a> (ORAI1, <a href=""https://pubmed.ncbi.nlm.nih.gov/STIM1)"">STIM1)</a>
 著者        Feske S, Picard C, Fischer A
 タイトル      Immunodeficiency due to mutations in ORAI1 and STIM1.
 雑誌        Clin Immunol 135:169-82 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2010.01.011"">10.1016/j.clim.2010.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23374270"">23374270</a> (CARD11)
 著者        Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K
 タイトル      Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
 雑誌        J Allergy Clin Immunol 131:477-85.e1 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2012.11.050"">10.1016/j.jaci.2012.11.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23727036"">23727036</a> (MALT1)
 著者        Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS
 タイトル      A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
 雑誌        J Allergy Clin Immunol 132:151-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2013.04.047"">10.1016/j.jaci.2013.04.047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30337470"">30337470</a> (IKBKB)
 著者        Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC
 タイトル      Gain-of-function IKBKB mutation causes human combined immune deficiency.
 雑誌        J Exp Med 215:2715-2724 (2018)
 DOI:<a href=""https://doi.org/10.1084/jem.20180639"">10.1084/jem.20180639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26215166"">26215166</a> (TNFRSF4)
 著者        Webb GJ, Hirschfield GM, Lane PJ
 タイトル      OX40, OX40L and Autoimmunity: a Comprehensive Review.
 雑誌        Clin Rev Allergy Immunol 50:312-32 (2016)
 DOI:<a href=""https://doi.org/10.1007/s12016-015-8498-3"">10.1007/s12016-015-8498-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22985903"">22985903</a> (LCK)
 著者        Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C
 タイトル      Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
 雑誌        J Allergy Clin Immunol 130:1144-1152.e11 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2012.07.029"">10.1016/j.jaci.2012.07.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24870241"">24870241</a> (CTPS1)
 著者        Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S
 タイトル      CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
 雑誌        Nature 510:288-92 (2014)
 DOI:<a href=""https://doi.org/10.1038/nature13386"">10.1038/nature13386</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25365219"">25365219</a> (BCL10)
 著者        Torres JM, Martinez-Barricarte R, Garcia-Gomez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jimenez-Reinoso A, del Pino L, Rodriguez-Pena R, Ferreira A, Hernandez-Jimenez E, Toledano V, Cubillos-Zapata C, Diaz-Almiron M, Lopez-Collazo E, Unzueta-Roch JL, Sanchez-Ramon S, Regueiro JR, Lopez-Granados E, Casanova JL, Perez de Diego R
 タイトル      Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.
 雑誌        J Clin Invest 124:5239-48 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI77493"">10.1172/JCI77493</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26083206"">26083206</a> (DOCK2)
 著者        Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Ciftci E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD
 タイトル      Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
 雑誌        N Engl J Med 372:2409-22 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1413462"">10.1056/NEJMoa1413462</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28414293"">28414293</a> (GINS1)
 著者        Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E
 タイトル      Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
 雑誌        J Clin Invest 127:1991-2006 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI90727"">10.1172/JCI90727</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27913302"">27913302</a> (HYOU1)
 著者        Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutskov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppanen M, Kere J
 タイトル      Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
 雑誌        J Allergy Clin Immunol 139:1391-1393.e11 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2016.09.050"">10.1016/j.jaci.2016.09.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31263572"">31263572</a> (TOM1)
 著者        Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppanen M, Kere J, Heiskanen K, Varjosalo M
 タイトル      Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
 雑誌        NPJ Genom Med 4:14 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41525-019-0088-5"">10.1038/s41525-019-0088-5</a>"
H00094,"DNA修復障害に伴う免疫不全症
 下位グループ    毛細血管拡張性運動失調症 [DS:H00064]
 毛細血管拡張性運動失調様症候群 [DS:H02014]
 ナイミーヘン染色体不安定症候群 [DS:H01344]
 DNA リガーゼ I 欠損症
 DNA リガーゼ IV 欠損症 [DS:H02015]
 ブルーム症候群 [DS:H01346]
 IMAGE-I 症候群 [DS:H02369]
 FILS 症候群 [DS:H02370]
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an ataxia-like disorder (ATLD), are chromosome instability disorders that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely by the production of double-strand breaks (DSBs). Bloom syndrome involves a defect in the BLM helicase, which seems to play a role in restarting DNA replication forks that are blocked at lesions, thereby promoting chromosome stability. A point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change in DNA ligase IV has also been identified in a leukaemia patient, who was dramatically over-sensitive to radiotherapy.",原発性免疫不全症候群,,"ATM [HSA:472] [KO:K04728]
 MRE11A [HSA:4361] [KO:K10865]
 NBS1(Nibrin) [HSA:4683] [KO:K10867]
 LIG1 [HSA:3978] [KO:K10747]
 LIG4 [HSA:3981] [KO:K10777]
 BLM [HSA:641] [KO:K10901]
 MCM4 [HSA:4173] [KO:K02212]",,,,,,"ICD-11: 4A01.31
 ICD-10: D82.8 G11.3
 MeSH: D001260 D049932 C564694 D001816
 OMIM: 208900 604391 251260 210900 606593 609981","PMID:12427531
 著者        Thompson LH, Schild D
 タイトル      Recombinational DNA repair and human disease.
 雑誌        Mutat Res 509:49-78 (2002)
 DOI:10.1016/S0027-5107(02)00224-5
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:22499342
 著者        Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S
 タイトル      Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.
 雑誌        J Med Genet 49:242-5 (2012)
 DOI:10.1136/jmedgenet-2012-100803","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>","DNA修復障害に伴う免疫不全症
 下位グループ    毛細血管拡張性運動失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00064"">H00064</a>]
 毛細血管拡張性運動失調様症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02014"">H02014</a>]
 ナイミーヘン染色体不安定症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01344"">H01344</a>]
 DNA リガーゼ I 欠損症
 DNA リガーゼ IV 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02015"">H02015</a>]
 ブルーム症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01346"">H01346</a>]
 IMAGE-I 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02369"">H02369</a>]
 FILS 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02370"">H02370</a>]
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an ataxia-like disorder (ATLD), are chromosome instability disorders that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely by the production of double-strand breaks (DSBs). Bloom syndrome involves a defect in the BLM helicase, which seems to play a role in restarting DNA replication forks that are blocked at lesions, thereby promoting chromosome stability. A point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change in DNA ligase IV has also been identified in a leukaemia patient, who was dramatically over-sensitive to radiotherapy.",,"ATM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:472"">472</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04728"">K04728</a>]
 MRE11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4361"">4361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10865"">K10865</a>]
 NBS1(Nibrin) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4683"">4683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10867"">K10867</a>]
 LIG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3978"">3978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10747"">K10747</a>]
 LIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3981"">3981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10777"">K10777</a>]
 BLM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:641"">641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10901"">K10901</a>]
 MCM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4173"">4173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02212"">K02212</a>]",,,,,,"ICD-11: 4A01.31
 ICD-10: D82.8 G11.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001260"">D001260</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049932"">D049932</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564694"">C564694</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001816"">D001816</a>
 OMIM: <a href=""https://www.omim.org/entry/208900"">208900</a> <a href=""https://www.omim.org/entry/604391"">604391</a> <a href=""https://www.omim.org/entry/251260"">251260</a> <a href=""https://www.omim.org/entry/210900"">210900</a> <a href=""https://www.omim.org/entry/606593"">606593</a> <a href=""https://www.omim.org/entry/609981"">609981</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12427531"">12427531</a>
 著者        Thompson LH, Schild D
 タイトル      Recombinational DNA repair and human disease.
 雑誌        Mutat Res 509:49-78 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0027-5107(02)00224-5"">10.1016/S0027-5107(02)00224-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22499342"">22499342</a>
 著者        Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S
 タイトル      Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.
 雑誌        J Med Genet 49:242-5 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100803"">10.1136/jmedgenet-2012-100803</a>"
H00095,"外胚葉異形成症に伴う免疫不全症
 下位グループ    NEMO 欠損症
 IκB 欠損症",,,"Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) the patient has no sweat glands, sparse scalp hair and rare conical teeth. Patients with EDA and immunodeficiency (EDA-ID) present some or all of these features, together with severe infectious diseases. EDA-ID principally affects boys, suggesting X-linked recessive inheritance (XL-EDA-ID). This was confirmed in 2000 and beyond with the identification of disease-causing hypomorphic mutations in NEMO, which is located on the X chromosome and encodes IKK-gamma. A novel autosomal dominant of EDA-ID, recently identified in one child, was found to be caused by a hypermorphic mutation of the gene encoding I{kappa}B{alpha}. Similar to XL-EDA-ID patients, from the age of two months he suffered from multiple and severe infections with several Gram-positive and Gram-negative bacteria, leading to chronic bronchopneumonitis and gastroenteritis, with failure to thrive.",免疫系疾患,,"IKBKG [HSA:8517] [KO:K07210]
 IKBA [HSA:4792] [KO:K04734]",,,,,,"ICD-11: LD27.0Y
 ICD-10: D82.8
 MeSH: C567411 C536181
 OMIM: 612132 300291","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00095"">H00095</a>","外胚葉異形成症に伴う免疫不全症
 下位グループ    NEMO 欠損症
 IκB 欠損症","Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) the patient has no sweat glands, sparse scalp hair and rare conical teeth. Patients with EDA and immunodeficiency (EDA-ID) present some or all of these features, together with severe infectious diseases. EDA-ID principally affects boys, suggesting X-linked recessive inheritance (XL-EDA-ID). This was confirmed in 2000 and beyond with the identification of disease-causing hypomorphic mutations in NEMO, which is located on the X chromosome and encodes IKK-gamma. A novel autosomal dominant of EDA-ID, recently identified in one child, was found to be caused by a hypermorphic mutation of the gene encoding I{kappa}B{alpha}. Similar to XL-EDA-ID patients, from the age of two months he suffered from multiple and severe infections with several Gram-positive and Gram-negative bacteria, leading to chronic bronchopneumonitis and gastroenteritis, with failure to thrive.",,"IKBKG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8517"">8517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07210"">K07210</a>]
 IKBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4792"">4792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04734"">K04734</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: D82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567411"">C567411</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536181"">C536181</a>
 OMIM: <a href=""https://www.omim.org/entry/612132"">612132</a> <a href=""https://www.omim.org/entry/300291"">300291</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00096,"Toll様受容体シグナル伝達系の障害
 下位グループ    COVID19-関連免疫不全-74 (IMD74)
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR and IL-1R receptors and upstream of TNF receptor-associated factor-6 (TRAF-6). Patients with IRAK-4 deficiency thus fail to produce TNF-alpha, IL-6, and IFN-gamma in response to IL-1beta and IL-18, respectively. Their blood cells also fail to produce IL-1beta, IL-6, IL-8, IL-12, and TNF-alpha upon stimulation with known TLR agonists. Despite the broad impairment at the two subsequent levels of onset (TLR) and propagation (IL-1R) of inflammation, the clinical phenotype of IRAK-4 deficiency is relatively mild. Patients present no developmental defect and a restricted spectrum of infectious diseases, mostly caused by pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. Recently, other monogenic defects of toll-like receptor signaling that cause severe immunodeficiency have been reported.",原発性免疫不全症候群,,"IRAK4 [HSA:51135] [KO:K04733]
 IRF7 [HSA:3665] [KO:K09447]
 (IMD74) TLR7 [HSA:51284] [KO:K05404]",,,,,,"ICD-11: 4A00.2
 OMIM: 607676 616345 301051","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:25814066
 著者        Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, Garcia-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL
 タイトル      Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.
 雑誌        Science 348:448-53 (2015)
 DOI:10.1126/science.aaa1578
 PMID:32706371
 著者        van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG, Netea MG, van de Veerdonk FL, Hoischen A
 タイトル      Presence of Genetic Variants Among Young Men With Severe COVID-19.
 雑誌        JAMA 324:663-673 (2020)
 DOI:10.1001/jama.2020.13719","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00096"">H00096</a>","Toll様受容体シグナル伝達系の障害
 下位グループ    COVID19-関連免疫不全-74 (IMD74)
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR and IL-1R receptors and upstream of TNF receptor-associated factor-6 (TRAF-6). Patients with IRAK-4 deficiency thus fail to produce TNF-alpha, IL-6, and IFN-gamma in response to IL-1beta and IL-18, respectively. Their blood cells also fail to produce IL-1beta, IL-6, IL-8, IL-12, and TNF-alpha upon stimulation with known TLR agonists. Despite the broad impairment at the two subsequent levels of onset (TLR) and propagation (IL-1R) of inflammation, the clinical phenotype of IRAK-4 deficiency is relatively mild. Patients present no developmental defect and a restricted spectrum of infectious diseases, mostly caused by pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. Recently, other monogenic defects of toll-like receptor signaling that cause severe immunodeficiency have been reported.",,"IRAK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51135"">51135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04733"">K04733</a>]
 IRF7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3665"">3665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09447"">K09447</a>]
 (IMD74) TLR7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51284"">51284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05404"">K05404</a>]",,,,,,"ICD-11: 4A00.2
 OMIM: <a href=""https://www.omim.org/entry/607676"">607676</a> <a href=""https://www.omim.org/entry/616345"">616345</a> <a href=""https://www.omim.org/entry/301051"">301051</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25814066"">25814066</a>
 著者        Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, Garcia-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL
 タイトル      Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.
 雑誌        Science 348:448-53 (2015)
 DOI:<a href=""https://doi.org/10.1126/science.aaa1578"">10.1126/science.aaa1578</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32706371"">32706371</a>
 著者        van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG, Netea MG, van de Veerdonk FL, Hoischen A
 タイトル      Presence of Genetic Variants Among Young Men With Severe COVID-19.
 雑誌        JAMA 324:663-673 (2020)
 DOI:<a href=""https://doi.org/10.1001/jama.2020.13719"">10.1001/jama.2020.13719</a>"
H00097,"WHIM 症候群
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"WHIM (an acronym for warts, hypogammaglobulinemia, infections and myelokathexis, a form of neutropenia) syndrome is a congenital immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and susceptibility to human papillomavirus (HPV) infection. Affected individuals have mutations that variably truncate the cytoplasmic tail domain of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical manifestations of the syndrome.",原発性免疫不全症候群,,"(WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
 (WHIMS2) CXCR2 [HSA:3579] [KO:K05050]",,,,,,"ICD-11: 4A00.Y
 ICD-10: D81.8
 MeSH: C536697
 OMIM: 193670 619407","PMID:19057201
 著者        Kawai T, Malech HL
 タイトル      WHIM syndrome: congenital immune deficiency disease.
 雑誌        Curr Opin Hematol 16:20-6 (2009)
 DOI:10.1097/MOH.0b013e32831ac557
 PMID:18436740 (WHIMS1)
 著者        Lagane B, Chow KY, Balabanian K, Levoye A, Harriague J, Planchenault T, Baleux F, Gunera-Saad N, Arenzana-Seisdedos F, Bachelerie F
 タイトル      CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.
 雑誌        Blood 112:34-44 (2008)
 DOI:10.1182/blood-2007-07-102103
 PMID:24777453 (WHIMS2)
 著者        Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dube MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Volker U, Volzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G
 タイトル      Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
 雑誌        Nat Genet 46:629-34 (2014)
 DOI:10.1038/ng.2962","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00097"">H00097</a>","WHIM 症候群
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","WHIM (an acronym for warts, hypogammaglobulinemia, infections and myelokathexis, a form of neutropenia) syndrome is a congenital immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and susceptibility to human papillomavirus (HPV) infection. Affected individuals have mutations that variably truncate the cytoplasmic tail domain of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical manifestations of the syndrome.",,"(WHIMS1) CXCR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7852"">7852</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04189"">K04189</a>]
 (WHIMS2) CXCR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3579"">3579</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05050"">K05050</a>]",,,,,,"ICD-11: 4A00.Y
 ICD-10: D81.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536697"">C536697</a>
 OMIM: <a href=""https://www.omim.org/entry/193670"">193670</a> <a href=""https://www.omim.org/entry/619407"">619407</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19057201"">19057201</a>
 著者        Kawai T, Malech HL
 タイトル      WHIM syndrome: congenital immune deficiency disease.
 雑誌        Curr Opin Hematol 16:20-6 (2009)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e32831ac557"">10.1097/MOH.0b013e32831ac557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18436740"">18436740</a> (WHIMS1)
 著者        Lagane B, Chow KY, Balabanian K, Levoye A, Harriague J, Planchenault T, Baleux F, Gunera-Saad N, Arenzana-Seisdedos F, Bachelerie F
 タイトル      CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.
 雑誌        Blood 112:34-44 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-07-102103"">10.1182/blood-2007-07-102103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24777453"">24777453</a> (WHIMS2)
 著者        Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dube MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Volker U, Volzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G
 タイトル      Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
 雑誌        Nat Genet 46:629-34 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2962"">10.1038/ng.2962</a>"
H00098,"慢性肉芽腫症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of four polypeptide subunits and mutations in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive (AR).",原発性免疫不全症候群,,"(CGDX) CYBB [HSA:1536] [KO:K21421]
 (CGD1) NCF1 [HSA:653361] [KO:K08011]
 (CGD3) NCF2 [HSA:4688] [KO:K08010]
 (CGD3) NCF4 [HSA:4689] [KO:K08012]
 (CGD4) CYBA [HSA:1535] [KO:K08009]
 (CGD5) CYBC1 [HSA:79415] [KO:K25863]",,,,インターフェロンガンマ-1a [DR:D03357],,"ICD-11: 4A00.0Y
 ICD-10: D71
 MeSH: D006105
 OMIM: 306400 233700 233710 613960 233690 618935","PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:18217895
 著者        Seger RA
 タイトル      Modern management of chronic granulomatous disease.
 雑誌        Br J Haematol 140:255-66 (2008)
 DOI:10.1111/j.1365-2141.2007.06880.x
 PMID:16880254
 著者        Ellson CD, Davidson K, Ferguson GJ, O'Connor R, Stephens LR, Hawkins PT
 タイトル      Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.
 雑誌        J Exp Med 203:1927-37 (2006)
 DOI:10.1084/jem.20052069
 PMID:30361506
 著者        Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K
 タイトル      A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
 雑誌        Nat Commun 9:4447 (2018)
 DOI:10.1038/s41467-018-06964-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00098"">H00098</a>","慢性肉芽腫症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of four polypeptide subunits and mutations in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive (AR).",,"(CGDX) CYBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1536"">1536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21421"">K21421</a>]
 (CGD1) NCF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:653361"">653361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08011"">K08011</a>]
 (CGD3) NCF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4688"">4688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08010"">K08010</a>]
 (CGD3) NCF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4689"">4689</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08012"">K08012</a>]
 (CGD4) CYBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1535"">1535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08009"">K08009</a>]
 (CGD5) CYBC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79415"">79415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25863"">K25863</a>]",,,,"インターフェロンガンマ-1a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03357"">D03357</a>]",,"ICD-11: 4A00.0Y
 ICD-10: D71
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006105"">D006105</a>
 OMIM: <a href=""https://www.omim.org/entry/306400"">306400</a> <a href=""https://www.omim.org/entry/233700"">233700</a> <a href=""https://www.omim.org/entry/233710"">233710</a> <a href=""https://www.omim.org/entry/613960"">613960</a> <a href=""https://www.omim.org/entry/233690"">233690</a> <a href=""https://www.omim.org/entry/618935"">618935</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18217895"">18217895</a>
 著者        Seger RA
 タイトル      Modern management of chronic granulomatous disease.
 雑誌        Br J Haematol 140:255-66 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2007.06880.x"">10.1111/j.1365-2141.2007.06880.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16880254"">16880254</a>
 著者        Ellson CD, Davidson K, Ferguson GJ, O'Connor R, Stephens LR, Hawkins PT
 タイトル      Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.
 雑誌        J Exp Med 203:1927-37 (2006)
 DOI:<a href=""https://doi.org/10.1084/jem.20052069"">10.1084/jem.20052069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30361506"">30361506</a>
 著者        Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K
 タイトル      A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
 雑誌        Nat Commun 9:4447 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41467-018-06964-x"">10.1038/s41467-018-06964-x</a>"
H00099,"白血球粘着不全症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this group of disorders have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to leukocyte adhesion deficiency.",原発性免疫不全症候群,,"ITGB2 [HSA:3689] [KO:K06464]
 SLC35C1 [HSA:55343] [KO:K15279]
 FERMT3 [HSA:83706] [KO:K17084]
 RAC2 [HSA:5880] [KO:K07860]",,,,,,"MeSH: C535887 C535755 C567555
 OMIM: 116920 266265 612840 608203","PMID:17960151
 著者        Marodi L, Notarangelo LD.
 タイトル      Immunological and genetic bases of new primary immunodeficiencies.
 雑誌        Nat Rev Immunol 7:851-61 (2007)
 DOI:10.1038/nri2195
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:19423742
 著者        Zimmerman GA
 タイトル      LAD syndromes: FERMT3 kindles the signal.
 雑誌        Blood 113:4485-6 (2009)
 DOI:10.1182/blood-2009-01-198853
 PMID:10758162
 著者        Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D
 タイトル      Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
 雑誌        Proc Natl Acad Sci U S A 97:4654-9 (2000)
 DOI:10.1073/pnas.080074897","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00099"">H00099</a>","白血球粘着不全症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this group of disorders have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to leukocyte adhesion deficiency.",,"ITGB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3689"">3689</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06464"">K06464</a>]
 SLC35C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55343"">55343</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15279"">K15279</a>]
 FERMT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83706"">83706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17084"">K17084</a>]
 RAC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5880"">5880</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07860"">K07860</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535887"">C535887</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535755"">C535755</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567555"">C567555</a>
 OMIM: <a href=""https://www.omim.org/entry/116920"">116920</a> <a href=""https://www.omim.org/entry/266265"">266265</a> <a href=""https://www.omim.org/entry/612840"">612840</a> <a href=""https://www.omim.org/entry/608203"">608203</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17960151"">17960151</a>
 著者        Marodi L, Notarangelo LD.
 タイトル      Immunological and genetic bases of new primary immunodeficiencies.
 雑誌        Nat Rev Immunol 7:851-61 (2007)
 DOI:<a href=""https://doi.org/10.1038/nri2195"">10.1038/nri2195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19423742"">19423742</a>
 著者        Zimmerman GA
 タイトル      LAD syndromes: FERMT3 kindles the signal.
 雑誌        Blood 113:4485-6 (2009)
 DOI:<a href=""https://doi.org/10.1182/blood-2009-01-198853"">10.1182/blood-2009-01-198853</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10758162"">10758162</a>
 著者        Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D
 タイトル      Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
 雑誌        Proc Natl Acad Sci U S A 97:4654-9 (2000)
 DOI:<a href=""https://doi.org/10.1073/pnas.080074897"">10.1073/pnas.080074897</a>"
H00100,"好中球減少症
 下位グループ    重症先天性好中球減少症 (SCN)
 Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)",,,"Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropenia (SCN) is a rare neutropenia with a bone marrow maturation arrest of granulocytic differentiation. Kostmann syndrome is an autosomal recessive SCN. The characteristic maturation arrest and the lack of mature neutrophils in peripheral blood of patients with Kostmann syndrome can be explained by the deletion of an anti-apoptotic factor (HAX-1) in myeloid cells of these patients. Heterozygous mutations in the protooncogene growth factor-independent 1 (GFI1) gene are also associated with SCN. In patients with autosomal dominant cyclic neutropenia (CyN), a condition with oscillating neutrophil counts but less severe clinical symptoms, heterozygous mutations in ELA-2/ELANE were discovered. Patients with X-linked severe congenital neutropenia (SCN) have been reported with activating mutations in Wiskott-Aldrich syndrome protein (WASp) leading to a constitutively-active form of the protein, and unregulated actin polymerization.",原発性免疫不全症候群,,"(SCN1) ELANE [HSA:1991] [KO:K01327]
 (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
 (SCN3) HAX1 [HSA:10456] [KO:K16220]
 (SCN4) G6PC3 [HSA:92579] [KO:K01084]
 (SCN5) VPS45 [HSA:11311] [KO:K12479]
 (SCN6) JAGN1 [HSA:84522] [KO:K25789]
 (SCN7) CSF3R [HSA:1441] [KO:K05061]
 (SCN8) SRP54 [HSA:6729] [KO:K03106]
 (SCNX) WAS [HSA:7454] [KO:K05747]",,,,"フィルグラスチム [DR:D03235]
 レノグラスチム [DR:D03247]
 ペグフィルグラスチム [DR:D06889]
 ミリモスチム [DR:D02664]",,"ICD-11: 4B00.0
 ICD-10: D70
 OMIM: 610738 613107 202700 300299 612541 615285 616022 617014 618752 607847","PMID:17162365 (SCN1, SCN2, SCNX)
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:18424339 (SCN1, SCN2, SCN3, SCN7)
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:19811314 (SCN1, SCN2, SCN3, SCN4, SCN7)
 著者        Rezaei N, Moazzami K, Aghamohammadi A, Klein C
 タイトル      Neutropenia and primary immunodeficiency diseases.
 雑誌        Int Rev Immunol 28:335-66 (2009)
 DOI:10.1080/08830180902995645
 PMID:19118303 (SCN4)
 著者        Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C
 タイトル      A syndrome with congenital neutropenia and mutations in G6PC3.
 雑誌        N Engl J Med 360:32-43 (2009)
 DOI:10.1056/NEJMoa0805051
 PMID:23738510 (SCN5)
 著者        Vilboux T, Lev A, Malicdan MC, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R
 タイトル      A congenital neutrophil defect syndrome associated with mutations in VPS45.
 雑誌        N Engl J Med 369:54-65 (2013)
 DOI:10.1056/NEJMoa1301296
 PMID:25129144 (SCN6)
 著者        Boztug K, Jarvinen PM, Salzer E, Racek T, Monch S, Garncarz W, Gertz EM, Schaffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchalka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanne-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C
 タイトル      JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
 雑誌        Nat Genet 46:1021-7 (2014)
 DOI:10.1038/ng.3069
 PMID:24753537 (SCN7)
 著者        Triot A, Jarvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Diaz JL, Racek T, Puchalka J, Gertz EM, Schaffer AA, Kotlarz D, Pfeifer D, Diaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sanchez de Toledo Codina J, Yague J, Touw IP, Unal E, Klein C
 タイトル      Inherited biallelic CSF3R mutations in severe congenital neutropenia.
 雑誌        Blood 123:3811-7 (2014)
 DOI:10.1182/blood-2013-11-535419
 PMID:28972538 (SCN8)
 著者        Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Muller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Bene MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S
 タイトル      Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
 雑誌        J Clin Invest 127:4090-4103 (2017)
 DOI:10.1172/JCI92876","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00100"">H00100</a>","好中球減少症
 下位グループ    重症先天性好中球減少症 (SCN)
 Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)","Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropenia (SCN) is a rare neutropenia with a bone marrow maturation arrest of granulocytic differentiation. Kostmann syndrome is an autosomal recessive SCN. The characteristic maturation arrest and the lack of mature neutrophils in peripheral blood of patients with Kostmann syndrome can be explained by the deletion of an anti-apoptotic factor (HAX-1) in myeloid cells of these patients. Heterozygous mutations in the protooncogene growth factor-independent 1 (GFI1) gene are also associated with SCN. In patients with autosomal dominant cyclic neutropenia (CyN), a condition with oscillating neutrophil counts but less severe clinical symptoms, heterozygous mutations in ELA-2/ELANE were discovered. Patients with X-linked severe congenital neutropenia (SCN) have been reported with activating mutations in Wiskott-Aldrich syndrome protein (WASp) leading to a constitutively-active form of the protein, and unregulated actin polymerization.",,"(SCN1) ELANE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1991"">1991</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01327"">K01327</a>]
 (SCN2/NI-CINA) GFI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2672"">2672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09223"">K09223</a>]
 (SCN3) HAX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10456"">10456</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16220"">K16220</a>]
 (SCN4) G6PC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92579"">92579</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01084"">K01084</a>]
 (SCN5) VPS45 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11311"">11311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12479"">K12479</a>]
 (SCN6) JAGN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84522"">84522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25789"">K25789</a>]
 (SCN7) CSF3R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1441"">1441</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05061"">K05061</a>]
 (SCN8) SRP54 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6729"">6729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03106"">K03106</a>]
 (SCNX) WAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7454"">7454</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05747"">K05747</a>]",,,,"フィルグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03235"">D03235</a>]
 レノグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03247"">D03247</a>]
 ペグフィルグラスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06889"">D06889</a>]
 ミリモスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02664"">D02664</a>]",,"ICD-11: 4B00.0
 ICD-10: D70
 OMIM: <a href=""https://www.omim.org/entry/610738"">610738</a> <a href=""https://www.omim.org/entry/613107"">613107</a> <a href=""https://www.omim.org/entry/202700"">202700</a> <a href=""https://www.omim.org/entry/300299"">300299</a> <a href=""https://www.omim.org/entry/612541"">612541</a> <a href=""https://www.omim.org/entry/615285"">615285</a> <a href=""https://www.omim.org/entry/616022"">616022</a> <a href=""https://www.omim.org/entry/617014"">617014</a> <a href=""https://www.omim.org/entry/618752"">618752</a> <a href=""https://www.omim.org/entry/607847"">607847</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a> (SCN1, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN2,"">SCN2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCNX)"">SCNX)</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a> (SCN1, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN2,"">SCN2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN3,"">SCN3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN7)"">SCN7)</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19811314"">19811314</a> (SCN1, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN2,"">SCN2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN3,"">SCN3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN4,"">SCN4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN7)"">SCN7)</a>
 著者        Rezaei N, Moazzami K, Aghamohammadi A, Klein C
 タイトル      Neutropenia and primary immunodeficiency diseases.
 雑誌        Int Rev Immunol 28:335-66 (2009)
 DOI:<a href=""https://doi.org/10.1080/08830180902995645"">10.1080/08830180902995645</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19118303"">19118303</a> (SCN4)
 著者        Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C
 タイトル      A syndrome with congenital neutropenia and mutations in G6PC3.
 雑誌        N Engl J Med 360:32-43 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0805051"">10.1056/NEJMoa0805051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23738510"">23738510</a> (SCN5)
 著者        Vilboux T, Lev A, Malicdan MC, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R
 タイトル      A congenital neutrophil defect syndrome associated with mutations in VPS45.
 雑誌        N Engl J Med 369:54-65 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1301296"">10.1056/NEJMoa1301296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25129144"">25129144</a> (SCN6)
 著者        Boztug K, Jarvinen PM, Salzer E, Racek T, Monch S, Garncarz W, Gertz EM, Schaffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchalka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanne-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C
 タイトル      JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
 雑誌        Nat Genet 46:1021-7 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3069"">10.1038/ng.3069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24753537"">24753537</a> (SCN7)
 著者        Triot A, Jarvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Diaz JL, Racek T, Puchalka J, Gertz EM, Schaffer AA, Kotlarz D, Pfeifer D, Diaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sanchez de Toledo Codina J, Yague J, Touw IP, Unal E, Klein C
 タイトル      Inherited biallelic CSF3R mutations in severe congenital neutropenia.
 雑誌        Blood 123:3811-7 (2014)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-11-535419"">10.1182/blood-2013-11-535419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28972538"">28972538</a> (SCN8)
 著者        Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Muller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Bene MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S
 タイトル      Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
 雑誌        J Clin Invest 127:4090-4103 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI92876"">10.1172/JCI92876</a>"
H00101,"他の食細胞の障害
 下位グループ    チェディアック・東症候群 [DS:H02021]
 グリセリ症候群 [DS:H02022]
 好中球二次顆粒欠損症 [DS:H02024]
 ミエロペルオキシダーゼ欠損症 [DS:H02025]
 グルコース-6-リン酸脱水素酵素欠損症 [DS:H01375]
 シュバッハマン・ダイアモンド症候群 [DS:H00439]
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations throughout the CHS1/LYST gene. Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. GS is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. Abnormal-beta-actin disease accompanies neutrophil chemotactic dysfunction. Neutrophil specific granule deficiency is a rare disorder of neutrophil function characterized by a lack of neutrophil secondary granule proteins and associated with recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. The only gene known to be associated with SDS is SBDS, which encodes a ribosome maturation protein.",原発性免疫不全症候群,,"CHS1 [HSA:1130] [KO:K22937]
 MYO5A [HSA:4644] [KO:K10357]
 RAB27A [HSA:5873] [KO:K07885]
 MLPH [HSA:79083] [KO:K22235]
 ACTB [HSA:60] [KO:K05692]
 CEBPE [HSA:1053] [KO:K10051]
 MPO [HSA:4353] [KO:K10789]
 G6PD [HSA:2539] [KO:K00036]
 SBDS [HSA:51119] [KO:K14574]",,,,,,OMIM: 214500 214450 607624 245480 254600 260400,"PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:17498436
 著者        Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U
 タイトル      Griscelli syndrome: a new phenotype with circumscribed pigment loss?
 雑誌        Dermatol Online J 13:17 (2007)
 PMID:11594510
 著者        Nunoi H, Yamazaki T, Kanegasaki S
 タイトル      Neutrophil cytoskeletal disease.
 雑誌        Int J Hematol 74:119-24 (2001)
 DOI:10.1007/BF02981993
 PMID:11701548
 著者        Dinauer MC, Lekstrom-Himes JA, Dale DC
 タイトル      Inherited Neutrophil Disorders: Molecular Basis and New Therapies.
 雑誌        Hematology Am Soc Hematol Educ Program 303-318 (2000)
 DOI:10.1182/asheducation-2000.1.303
 PMID:11964737
 著者        Etzioni A
 タイトル      Novel aspects of phagocytic cell disorders.
 雑誌        Curr Opin Allergy Clin Immunol 1:535-40 (2001)
 DOI:10.1097/00130832-200112000-00007
 PMID:18177777
 著者        Cappellini MD, Fiorelli G
 タイトル      Glucose-6-phosphate dehydrogenase deficiency.
 雑誌        Lancet 371:64-74 (2008)
 DOI:10.1016/S0140-6736(08)60073-2
 PMID:19102804
 著者        Dror Y
 タイトル      Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.
 雑誌        Expert Rev Mol Med 10:e38 (2008)
 DOI:10.1017/S1462399408000938
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>","他の食細胞の障害
 下位グループ    チェディアック・東症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02021"">H02021</a>]
 グリセリ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02022"">H02022</a>]
 好中球二次顆粒欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02024"">H02024</a>]
 ミエロペルオキシダーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02025"">H02025</a>]
 グルコース-6-リン酸脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01375"">H01375</a>]
 シュバッハマン・ダイアモンド症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00439"">H00439</a>]
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations throughout the CHS1/LYST gene. Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. GS is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. Abnormal-beta-actin disease accompanies neutrophil chemotactic dysfunction. Neutrophil specific granule deficiency is a rare disorder of neutrophil function characterized by a lack of neutrophil secondary granule proteins and associated with recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. The only gene known to be associated with SDS is SBDS, which encodes a ribosome maturation protein.",,"CHS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1130"">1130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22937"">K22937</a>]
 MYO5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4644"">4644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10357"">K10357</a>]
 RAB27A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5873"">5873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07885"">K07885</a>]
 MLPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79083"">79083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22235"">K22235</a>]
 ACTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60"">60</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]
 CEBPE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1053"">1053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10051"">K10051</a>]
 MPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4353"">4353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10789"">K10789</a>]
 G6PD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2539"">2539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00036"">K00036</a>]
 SBDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51119"">51119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14574"">K14574</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/214500"">214500</a> <a href=""https://www.omim.org/entry/214450"">214450</a> <a href=""https://www.omim.org/entry/607624"">607624</a> <a href=""https://www.omim.org/entry/245480"">245480</a> <a href=""https://www.omim.org/entry/254600"">254600</a> <a href=""https://www.omim.org/entry/260400"">260400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17498436"">17498436</a>
 著者        Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U
 タイトル      Griscelli syndrome: a new phenotype with circumscribed pigment loss?
 雑誌        Dermatol Online J 13:17 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11594510"">11594510</a>
 著者        Nunoi H, Yamazaki T, Kanegasaki S
 タイトル      Neutrophil cytoskeletal disease.
 雑誌        Int J Hematol 74:119-24 (2001)
 DOI:<a href=""https://doi.org/10.1007/BF02981993"">10.1007/BF02981993</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11701548"">11701548</a>
 著者        Dinauer MC, Lekstrom-Himes JA, Dale DC
 タイトル      Inherited Neutrophil Disorders: Molecular Basis and New Therapies.
 雑誌        Hematology Am Soc Hematol Educ Program 303-318 (2000)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2000.1.303"">10.1182/asheducation-2000.1.303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11964737"">11964737</a>
 著者        Etzioni A
 タイトル      Novel aspects of phagocytic cell disorders.
 雑誌        Curr Opin Allergy Clin Immunol 1:535-40 (2001)
 DOI:<a href=""https://doi.org/10.1097/00130832-200112000-00007"">10.1097/00130832-200112000-00007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18177777"">18177777</a>
 著者        Cappellini MD, Fiorelli G
 タイトル      Glucose-6-phosphate dehydrogenase deficiency.
 雑誌        Lancet 371:64-74 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60073-2"">10.1016/S0140-6736(08)60073-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19102804"">19102804</a>
 著者        Dror Y
 タイトル      Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.
 雑誌        Expert Rev Mol Med 10:e38 (2008)
 DOI:<a href=""https://doi.org/10.1017/S1462399408000938"">10.1017/S1462399408000938</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00102,"古典的補体経路の構成要素の障害
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways of the complement response. Defects in the classic pathway account for the more common type of complement deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement classical pathway components, is associated with SLE in 10% of the cases. Complete C1q and C4 deficiencies are less frequent but associated with a higher prevalence of SLE.",原発性免疫不全症候群,,"C1QA [HSA:712] [KO:K03986]
 C1QB [HSA:713] [KO:K03987]
 C1QG [HSA:714] [KO:K03988]
 C1R [HSA:715] [KO:K01330]
 C1S [HSA:716] [KO:K01331]
 C2 [HSA:717] [KO:K01332]
 C3 [HSA:718] [KO:K03990]
 C4A [HSA:720] [KO:K03989]
 C4B [HSA:721] [KO:K03989]",,,,,,"ICD-11: 4A00.10
 OMIM: 613652 613783 217000 613779 614380 614379 120790","PMID:19028607
 著者        Bussone G, Mouthon L
 タイトル      Autoimmune manifestations in primary immune deficiencies.
 雑誌        Autoimmun Rev 8:332-6 (2009)
 DOI:10.1016/j.autrev.2008.11.004
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00102"">H00102</a>","古典的補体経路の構成要素の障害
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways of the complement response. Defects in the classic pathway account for the more common type of complement deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement classical pathway components, is associated with SLE in 10% of the cases. Complete C1q and C4 deficiencies are less frequent but associated with a higher prevalence of SLE.",,"C1QA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:712"">712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03986"">K03986</a>]
 C1QB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:713"">713</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03987"">K03987</a>]
 C1QG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:714"">714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03988"">K03988</a>]
 C1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:715"">715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01330"">K01330</a>]
 C1S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:716"">716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01331"">K01331</a>]
 C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:717"">717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01332"">K01332</a>]
 C3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:718"">718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03990"">K03990</a>]
 C4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:720"">720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03989"">K03989</a>]
 C4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:721"">721</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03989"">K03989</a>]",,,,,,"ICD-11: 4A00.10
 OMIM: <a href=""https://www.omim.org/entry/613652"">613652</a> <a href=""https://www.omim.org/entry/613783"">613783</a> <a href=""https://www.omim.org/entry/217000"">217000</a> <a href=""https://www.omim.org/entry/613779"">613779</a> <a href=""https://www.omim.org/entry/614380"">614380</a> <a href=""https://www.omim.org/entry/614379"">614379</a> <a href=""https://www.omim.org/entry/120790"">120790</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19028607"">19028607</a>
 著者        Bussone G, Mouthon L
 タイトル      Autoimmune manifestations in primary immune deficiencies.
 雑誌        Autoimmun Rev 8:332-6 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2008.11.004"">10.1016/j.autrev.2008.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00103,"後期補体経路の障害
 下位グループ    C5 欠損症
 C6 欠損症
 C7 欠損症
 C8 欠損症
 C9 欠損症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Late complement component (the final common pathway C5b-C9 components) deficiencies are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced levels of the respective complement component. Generally, patients with deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism.",原発性免疫不全症候群,,"(C5D) C5 [HSA:727] [KO:K03994]
 (C6D) C6 [HSA:729] [KO:K03995]
 (C7D) C7 [HSA:730] [KO:K03996]
 (C8D1) C8A [HSA:731] [KO:K03997]
 (C8D2) C8B [HSA:732] [KO:K03998]
 (C9D) C9 [HSA:735] [KO:K04000]
 C8G [HSA:733] [KO:K03999]",,,,,,"ICD-11: 4A00.11
 OMIM: 609536 612446 610102 613790 613789 613825","PMID:19758139
 著者        Pettigrew HD, Teuber SS, Gershwin ME
 タイトル      Clinical significance of complement deficiencies.
 雑誌        Ann N Y Acad Sci 1173:108-23 (2009)
 DOI:10.1111/j.1749-6632.2009.04633.x
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:7730648 (C5)
 著者        Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
 タイトル      Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
 雑誌        J Immunol 154:5464-71 (1995)
 PMID:8690922 (C6)
 著者        Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE
 タイトル      Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
 雑誌        J Immunol 156:2309-15 (1996)
 PMID:8892662 (C7)
 著者        Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE
 タイトル      Genetic bases of human complement C7 deficiency.
 雑誌        J Immunol 157:4239-43 (1996)
 PMID:9759902 (C8A)
 著者        Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y, Hayashi K
 タイトル      Genetic basis of human complement C8 alpha-gamma deficiency.
 雑誌        J Immunol 161:3762-6 (1998)
 PMID:8098723 (C8B)
 著者        Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM
 タイトル      Genetic basis of human complement C8 beta deficiency.
 雑誌        J Immunol 150:4943-7 (1993)
 PMID:9144525 (C9)
 著者        Witzel-Schlomp K, Spath PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM
 タイトル      The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
 雑誌        J Immunol 158:5043-9 (1997)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00103"">H00103</a>","後期補体経路の障害
 下位グループ    C5 欠損症
 C6 欠損症
 C7 欠損症
 C8 欠損症
 C9 欠損症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Late complement component (the final common pathway C5b-C9 components) deficiencies are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced levels of the respective complement component. Generally, patients with deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism.",,"(C5D) C5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:727"">727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03994"">K03994</a>]
 (C6D) C6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729"">729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03995"">K03995</a>]
 (C7D) C7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:730"">730</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03996"">K03996</a>]
 (C8D1) C8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:731"">731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03997"">K03997</a>]
 (C8D2) C8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:732"">732</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03998"">K03998</a>]
 (C9D) C9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:735"">735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04000"">K04000</a>]
 C8G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:733"">733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03999"">K03999</a>]",,,,,,"ICD-11: 4A00.11
 OMIM: <a href=""https://www.omim.org/entry/609536"">609536</a> <a href=""https://www.omim.org/entry/612446"">612446</a> <a href=""https://www.omim.org/entry/610102"">610102</a> <a href=""https://www.omim.org/entry/613790"">613790</a> <a href=""https://www.omim.org/entry/613789"">613789</a> <a href=""https://www.omim.org/entry/613825"">613825</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19758139"">19758139</a>
 著者        Pettigrew HD, Teuber SS, Gershwin ME
 タイトル      Clinical significance of complement deficiencies.
 雑誌        Ann N Y Acad Sci 1173:108-23 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.04633.x"">10.1111/j.1749-6632.2009.04633.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7730648"">7730648</a> (C5)
 著者        Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
 タイトル      Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
 雑誌        J Immunol 154:5464-71 (1995)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8690922"">8690922</a> (C6)
 著者        Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE
 タイトル      Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
 雑誌        J Immunol 156:2309-15 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8892662"">8892662</a> (C7)
 著者        Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE
 タイトル      Genetic bases of human complement C7 deficiency.
 雑誌        J Immunol 157:4239-43 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9759902"">9759902</a> (C8A)
 著者        Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y, Hayashi K
 タイトル      Genetic basis of human complement C8 alpha-gamma deficiency.
 雑誌        J Immunol 161:3762-6 (1998)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8098723"">8098723</a> (C8B)
 著者        Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM
 タイトル      Genetic basis of human complement C8 beta deficiency.
 雑誌        J Immunol 150:4943-7 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9144525"">9144525</a> (C9)
 著者        Witzel-Schlomp K, Spath PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM
 タイトル      The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
 雑誌        J Immunol 158:5043-9 (1997)"
H00104,"副補体経路の構成要素の障害
 下位グループ    B因子欠損症
 D因子欠損症
 H因子欠損症
 Properdin 欠損症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"The alternative pathway is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by factor D into Ba and Bb. Hydrolyzed C3Bb is responsible for a constant low level of C3 cleavage into C3b. If C3b binds to an appropriate surface, factor B will bind with C3b to form C3bBb, a highly efficient C3-cleaving enzyme. This overall series of successive proteolytic steps is enhanced by the serum protein properdin, which stabilizes protein:protein interactions during the process. Factor H is essential in controlling the function of the alternative pathway by inhibiting the formation of and degrading C3bBb. Deficiencies of alternative pathway-specific components are rare, and usually lead to an increased frequency of Neisseria infections.",原発性免疫不全症候群,,"CFB [HSA:629] [KO:K01335]
 CFD [HSA:1675] [KO:K01334]
 CFH [HSA:3075] [KO:K04004]
 CFP [HSA:5199] [KO:K15412]",,,,,,"ICD-11: 4A00.1
 OMIM: 615561 613912 609814 312060","PMID:19758139
 著者        Pettigrew HD, Teuber SS, Gershwin ME
 タイトル      Clinical significance of complement deficiencies.
 雑誌        Ann N Y Acad Sci 1173:108-23 (2009)
 DOI:10.1111/j.1749-6632.2009.04633.x
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00104"">H00104</a>","副補体経路の構成要素の障害
 下位グループ    B因子欠損症
 D因子欠損症
 H因子欠損症
 Properdin 欠損症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","The alternative pathway is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by factor D into Ba and Bb. Hydrolyzed C3Bb is responsible for a constant low level of C3 cleavage into C3b. If C3b binds to an appropriate surface, factor B will bind with C3b to form C3bBb, a highly efficient C3-cleaving enzyme. This overall series of successive proteolytic steps is enhanced by the serum protein properdin, which stabilizes protein:protein interactions during the process. Factor H is essential in controlling the function of the alternative pathway by inhibiting the formation of and degrading C3bBb. Deficiencies of alternative pathway-specific components are rare, and usually lead to an increased frequency of Neisseria infections.",,"CFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:629"">629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01335"">K01335</a>]
 CFD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1675"">1675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01334"">K01334</a>]
 CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 CFP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5199"">5199</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15412"">K15412</a>]",,,,,,"ICD-11: 4A00.1
 OMIM: <a href=""https://www.omim.org/entry/615561"">615561</a> <a href=""https://www.omim.org/entry/613912"">613912</a> <a href=""https://www.omim.org/entry/609814"">609814</a> <a href=""https://www.omim.org/entry/312060"">312060</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19758139"">19758139</a>
 著者        Pettigrew HD, Teuber SS, Gershwin ME
 タイトル      Clinical significance of complement deficiencies.
 雑誌        Ann N Y Acad Sci 1173:108-23 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.04633.x"">10.1111/j.1749-6632.2009.04633.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00105,"マンノース結合レクチン経路の構成要素の障害;
 補体レクチン経路の障害 (LCAPD)
 下位グループ    マンノース結合レクチン欠損症
 MASP-2 欠損症
 Ficolin 3 欠損症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity.",原発性免疫不全症候群,,"(LCAPD1) MBL2 [HSA:4153] [KO:K03991]
 (LCAPD2) MASP2 [HSA:10747] [KO:K03993]
 (LCAPD3) FCN3 [HSA:8547] [KO:K10104]",,,,,,"ICD-11: 4A00.1Y
 OMIM: 614372 613791 613860","PMID:19481265
 著者        Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
 タイトル      Complement in human diseases: Lessons from complement deficiencies.
 雑誌        Mol Immunol 46:2774-83 (2009)
 DOI:10.1016/j.molimm.2009.04.029
 PMID:14568388
 著者        Turner MW
 タイトル      The role of mannose-binding lectin in health and disease.
 雑誌        Mol Immunol 40:423-9 (2003)
 DOI:10.1016/S0161-5890(03)00155-X
 PMID:16189649
 著者        Sorensen R, Thiel S, Jensenius JC
 タイトル      Mannan-binding-lectin-associated serine proteases, characteristics and disease associations.
 雑誌        Springer Semin Immunopathol 27:299-319 (2005)
 DOI:10.1007/s00281-005-0006-z
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:19535802
 著者        Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P
 タイトル      Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
 雑誌        N Engl J Med 360:2637-44 (2009)
 DOI:10.1056/NEJMoa0900381","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00105"">H00105</a>","マンノース結合レクチン経路の構成要素の障害;
 補体レクチン経路の障害 (LCAPD)
 下位グループ    マンノース結合レクチン欠損症
 MASP-2 欠損症
 Ficolin 3 欠損症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity.",,"(LCAPD1) MBL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4153"">4153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03991"">K03991</a>]
 (LCAPD2) MASP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10747"">10747</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03993"">K03993</a>]
 (LCAPD3) FCN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8547"">8547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10104"">K10104</a>]",,,,,,"ICD-11: 4A00.1Y
 OMIM: <a href=""https://www.omim.org/entry/614372"">614372</a> <a href=""https://www.omim.org/entry/613791"">613791</a> <a href=""https://www.omim.org/entry/613860"">613860</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19481265"">19481265</a>
 著者        Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
 タイトル      Complement in human diseases: Lessons from complement deficiencies.
 雑誌        Mol Immunol 46:2774-83 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.molimm.2009.04.029"">10.1016/j.molimm.2009.04.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14568388"">14568388</a>
 著者        Turner MW
 タイトル      The role of mannose-binding lectin in health and disease.
 雑誌        Mol Immunol 40:423-9 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0161-5890(03)00155-X"">10.1016/S0161-5890(03)00155-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16189649"">16189649</a>
 著者        Sorensen R, Thiel S, Jensenius JC
 タイトル      Mannan-binding-lectin-associated serine proteases, characteristics and disease associations.
 雑誌        Springer Semin Immunopathol 27:299-319 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00281-005-0006-z"">10.1007/s00281-005-0006-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19535802"">19535802</a>
 著者        Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P
 タイトル      Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
 雑誌        N Engl J Med 360:2637-44 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900381"">10.1056/NEJMoa0900381</a>"
H00106,"補体制御タンパクの障害
 下位グループ    C1インヒビター欠損症 (遺伝性血管浮腫)
 C4BPalpha 欠損症
 C4BPbeta 欠損症
 I 因子欠損症
 CD55 欠損症
 CD59 欠損症
 上位グループ    自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins. They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating factor (DAF), CD59, and so on. C1-INH (SERPING1) deficiency can be genetic or acquired, and this causes an episodic, local increase in vascular permeability in the subcutaneous and submucosal layers, identified as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within the Factor I gene have been recently identified in individuals with atypical hemolytic uremic syndrome (aHUS), while homozygous deficiency of Factor I is an unusual feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic anaemia.",原発性免疫不全症候群,,"SERPING1 [HSA:710] [KO:K04001]
 C4BPA [HSA:722] [KO:K04002]
 C4BPB [HSA:725] [KO:K04003]
 CFI [HSA:3426] [KO:K01333]
 CD55 [HSA:1604] [KO:K04006]
 CD59 [HSA:966] [KO:K04008]",,,,,,"ICD-11: 4A00.1Y
 OMIM: 106100 610984 612300","PMID:19481265
 著者        Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
 タイトル      Complement in human diseases: Lessons from complement deficiencies.
 雑誌        Mol Immunol 46:2774-83 (2009)
 DOI:10.1016/j.molimm.2009.04.029
 PMID:19162547
 著者        Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M
 タイトル      C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress.
 雑誌        Trends Mol Med 15:69-78 (2009)
 DOI:10.1016/j.molmed.2008.12.001
 PMID:18374984
 著者        Ponce-Castro IM, Gonzalez-Rubio C, Delgado-Cervino EM, Abarrategui-Garrido C, Fontan G, Sanchez-Corral P, Lopez-Trascasa M
 タイトル      Molecular characterization of Complement Factor I deficiency in two Spanish families.
 雑誌        Mol Immunol 45:2764-71 (2008)
 DOI:10.1016/j.molimm.2008.02.008
 PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00106"">H00106</a>","補体制御タンパクの障害
 下位グループ    C1インヒビター欠損症 (遺伝性血管浮腫)
 C4BPalpha 欠損症
 C4BPbeta 欠損症
 I 因子欠損症
 CD55 欠損症
 CD59 欠損症
 上位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins. They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating factor (DAF), CD59, and so on. C1-INH (SERPING1) deficiency can be genetic or acquired, and this causes an episodic, local increase in vascular permeability in the subcutaneous and submucosal layers, identified as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within the Factor I gene have been recently identified in individuals with atypical hemolytic uremic syndrome (aHUS), while homozygous deficiency of Factor I is an unusual feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic anaemia.",,"SERPING1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:710"">710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04001"">K04001</a>]
 C4BPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:722"">722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04002"">K04002</a>]
 C4BPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:725"">725</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04003"">K04003</a>]
 CFI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3426"">3426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01333"">K01333</a>]
 CD55 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1604"">1604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04006"">K04006</a>]
 CD59 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:966"">966</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04008"">K04008</a>]",,,,,,"ICD-11: 4A00.1Y
 OMIM: <a href=""https://www.omim.org/entry/106100"">106100</a> <a href=""https://www.omim.org/entry/610984"">610984</a> <a href=""https://www.omim.org/entry/612300"">612300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19481265"">19481265</a>
 著者        Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
 タイトル      Complement in human diseases: Lessons from complement deficiencies.
 雑誌        Mol Immunol 46:2774-83 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.molimm.2009.04.029"">10.1016/j.molimm.2009.04.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19162547"">19162547</a>
 著者        Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M
 タイトル      C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress.
 雑誌        Trends Mol Med 15:69-78 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.molmed.2008.12.001"">10.1016/j.molmed.2008.12.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18374984"">18374984</a>
 著者        Ponce-Castro IM, Gonzalez-Rubio C, Delgado-Cervino EM, Abarrategui-Garrido C, Fontan G, Sanchez-Corral P, Lopez-Trascasa M
 タイトル      Molecular characterization of Complement Factor I deficiency in two Spanish families.
 雑誌        Mol Immunol 45:2764-71 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.molimm.2008.02.008"">10.1016/j.molimm.2008.02.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00107,"他のよく定義された免疫不全症候群
 下位グループ    ウィスコット・アルドリッチ症候群 [DS:H01523]
 ディジョ−ジ症候群 [DS:H01524]
 高IgE症候群 [DS:H01968]
 エプスタイン・バール・ウイルス関連リンパ球増殖 [DS:H01970]
 IPEX 症候群 [DS:H01971]
 骨端軟骨異形症 [DS:H01966]
 自己免疫疾患 APECED [DS:H01972]
 上位グループ    原発性免疫不全症 [DS:H01725]",,,"Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions of the WAS gene have been identified in WAS patients. DiGeorge/velocardiofacial syndrome (DGS) is a congenital immune disorder characterized by lack of embryonic development or underdevelopment of the thymus and surrounding organs. The DGS is a member of a group of disorders that have in common a chromosome deletion involving 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Hyper-IgE syndrome (HIES) is characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form of HIES, whereas a null mutation in the tyrosine kinase 2 (TYK2) gene causes an autosomal recessive HIES associated with viral and mycobacterial infections. X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency, with manifestations ranging from fatal infectious mononucleosis to B cell lymphomas and hypogammaglobulinemia. Mutations in the X-linked inhibitor of apoptosis (XIAP) as well as in a distinct gene, SLAM-associated protein (SAP/DSP1/SH2D1A) have been identified in patients with XLP. Recently, it has been shown that a homozygous mutation in the SH2 domain of the IL-2-inducible T-cell kinase (ITK) gene is associated with fatal Epstein Barr virus associated lymphoproliferation, with a clinical picture similar to that seen in XLP. Immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome and autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia (APECED) are examples of dysregulated immunity resulting in a disturbed tolerance and multiple autoimmune phenomena. IPEX is caused by mutations in the FOXP3 gene, and APECED results from mutations in the autoimmune regulator (AIRE) gene. Cartilage hair hypoplasia (CHH) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP.",原発性免疫不全症候群,,"WAS [HSA:7454] [KO:K05747]
 TBX1 [HSA:6899] [KO:K10175]
 STAT3 [HSA:6774] [KO:K04692]
 TYK2 [HSA:7297] [KO:K11219]
 SH2D1A [HSA:4068] [KO:K07990]
 XIAP [HSA:331] [KO:K04725]
 ITK [HSA:3702] [KO:K07363]
 AIRE [HSA:326] [KO:K10603]
 FOXP3 [HSA:50943] [KO:K10163]
 RMRP [HSA:6023] [KO:K14576]",,,,,,OMIM: 301000 188400 147060 243700 308240 300635 613011 304790 250250 240300 611521,"PMID:17162365
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:9737224
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:10.4065/73.9.865
 PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:19425169
 著者        Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A
 タイトル      Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
 雑誌        J Clin Invest 119:1350-8 (2009)
 DOI:10.1172/JCI37901
 PMID:21109689
 著者        Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, Linka RM, Shaag A, Elpeleg O, Borkhardt A, Resnick IB
 タイトル      IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
 雑誌        Haematologica 96:472-6 (2011)
 DOI:10.3324/haematol.2010.033910
 PMID:18264745
 著者        Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD
 タイトル      Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
 雑誌        J Clin Immunol 28 Suppl 1:S11-9 (2008)
 DOI:10.1007/s10875-008-9176-5
 PMID:19717292
 著者        Minegishi Y
 タイトル      Hyper-IgE syndrome.
 雑誌        Curr Opin Immunol 21:487-92 (2009)
 DOI:10.1016/j.coi.2009.07.013
 PMID:16838329
 著者        Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG
 タイトル      RMRP mutations in cartilage-hair hypoplasia.
 雑誌        Am J Med Genet A 140:2121-30 (2006)
 DOI:10.1002/ajmg.a.31331
 PMID:19595300
 著者        Rumble JM, Oetjen KA, Stein PL, Schwartzberg PL, Moore BB, Duckett CS
 タイトル      Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP).
 雑誌        Cell Immunol 259:82-9 (2009)
 DOI:10.1016/j.cellimm.2009.05.017
 PMID:18424339
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:10.1016/j.iac.2008.01.004
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>","他のよく定義された免疫不全症候群
 下位グループ    ウィスコット・アルドリッチ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01523"">H01523</a>]
 ディジョ−ジ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01524"">H01524</a>]
 高IgE症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01968"">H01968</a>]
 エプスタイン・バール・ウイルス関連リンパ球増殖 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01970"">H01970</a>]
 IPEX 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01971"">H01971</a>]
 骨端軟骨異形症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01966"">H01966</a>]
 自己免疫疾患 APECED [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01972"">H01972</a>]
 上位グループ    原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions of the WAS gene have been identified in WAS patients. DiGeorge/velocardiofacial syndrome (DGS) is a congenital immune disorder characterized by lack of embryonic development or underdevelopment of the thymus and surrounding organs. The DGS is a member of a group of disorders that have in common a chromosome deletion involving 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Hyper-IgE syndrome (HIES) is characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form of HIES, whereas a null mutation in the tyrosine kinase 2 (TYK2) gene causes an autosomal recessive HIES associated with viral and mycobacterial infections. X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency, with manifestations ranging from fatal infectious mononucleosis to B cell lymphomas and hypogammaglobulinemia. Mutations in the X-linked inhibitor of apoptosis (XIAP) as well as in a distinct gene, SLAM-associated protein (SAP/DSP1/SH2D1A) have been identified in patients with XLP. Recently, it has been shown that a homozygous mutation in the SH2 domain of the IL-2-inducible T-cell kinase (ITK) gene is associated with fatal Epstein Barr virus associated lymphoproliferation, with a clinical picture similar to that seen in XLP. Immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome and autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia (APECED) are examples of dysregulated immunity resulting in a disturbed tolerance and multiple autoimmune phenomena. IPEX is caused by mutations in the FOXP3 gene, and APECED results from mutations in the autoimmune regulator (AIRE) gene. Cartilage hair hypoplasia (CHH) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP.",,"WAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7454"">7454</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05747"">K05747</a>]
 TBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6899"">6899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10175"">K10175</a>]
 STAT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6774"">6774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04692"">K04692</a>]
 TYK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7297"">7297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11219"">K11219</a>]
 SH2D1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4068"">4068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07990"">K07990</a>]
 XIAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:331"">331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04725"">K04725</a>]
 ITK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3702"">3702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07363"">K07363</a>]
 AIRE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:326"">326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10603"">K10603</a>]
 FOXP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50943"">50943</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10163"">K10163</a>]
 RMRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6023"">6023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14576"">K14576</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/301000"">301000</a> <a href=""https://www.omim.org/entry/188400"">188400</a> <a href=""https://www.omim.org/entry/147060"">147060</a> <a href=""https://www.omim.org/entry/243700"">243700</a> <a href=""https://www.omim.org/entry/308240"">308240</a> <a href=""https://www.omim.org/entry/300635"">300635</a> <a href=""https://www.omim.org/entry/613011"">613011</a> <a href=""https://www.omim.org/entry/304790"">304790</a> <a href=""https://www.omim.org/entry/250250"">250250</a> <a href=""https://www.omim.org/entry/240300"">240300</a> <a href=""https://www.omim.org/entry/611521"">611521</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9737224"">9737224</a>
 著者        Ten RM.
 タイトル      Primary immunodeficiencies.
 雑誌        Mayo Clin Proc 73:865-72 (1998)
 DOI:<a href=""https://doi.org/10.4065/73.9.865"">10.4065/73.9.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19425169"">19425169</a>
 著者        Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A
 タイトル      Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
 雑誌        J Clin Invest 119:1350-8 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI37901"">10.1172/JCI37901</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21109689"">21109689</a>
 著者        Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, Linka RM, Shaag A, Elpeleg O, Borkhardt A, Resnick IB
 タイトル      IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
 雑誌        Haematologica 96:472-6 (2011)
 DOI:<a href=""https://doi.org/10.3324/haematol.2010.033910"">10.3324/haematol.2010.033910</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18264745"">18264745</a>
 著者        Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD
 タイトル      Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.
 雑誌        J Clin Immunol 28 Suppl 1:S11-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10875-008-9176-5"">10.1007/s10875-008-9176-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19717292"">19717292</a>
 著者        Minegishi Y
 タイトル      Hyper-IgE syndrome.
 雑誌        Curr Opin Immunol 21:487-92 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.coi.2009.07.013"">10.1016/j.coi.2009.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16838329"">16838329</a>
 著者        Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG
 タイトル      RMRP mutations in cartilage-hair hypoplasia.
 雑誌        Am J Med Genet A 140:2121-30 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31331"">10.1002/ajmg.a.31331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19595300"">19595300</a>
 著者        Rumble JM, Oetjen KA, Stein PL, Schwartzberg PL, Moore BB, Duckett CS
 タイトル      Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP).
 雑誌        Cell Immunol 259:82-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cellimm.2009.05.017"">10.1016/j.cellimm.2009.05.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424339"">18424339</a>
 著者        Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
 タイトル      Genetic diagnosis of primary immune deficiencies.
 雑誌        Immunol Allergy Clin North Am 28:387-412, x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.iac.2008.01.004"">10.1016/j.iac.2008.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>"
H00108,"自己免疫性リンパ増殖症候群
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 genes (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV.",原発性免疫不全症候群,,"(ALPS1A) FAS [HSA:355] [KO:K04390]
 (ALPS1B) FASLG [HSA:356] [KO:K04389]
 (ALPS2A) CASP10 [HSA:843] [KO:K04400]
 (ALPS2B) CASP8 [HSA:841] [KO:K04398]
 (ALPS3) PRKCD [HSA:5580] [KO:K06068]
 (ALPS4) NRAS [HSA:4893] [KO:K07828]
 (ALPS5) CTLA4 [HSA:1493] [KO:K06538]",,,,,,"ICD-11: 4A01.22
 ICD-10: D47.9
 MeSH: D056735
 OMIM: 601859 603909 614470 615559 607271 616100","PMID:16611303
 著者        Worth A, Thrasher AJ, Gaspar HB
 タイトル      Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.
 雑誌        Br J Haematol 133:124-40 (2006)
 DOI:10.1111/j.1365-2141.2006.05993.x
 PMID:17952897
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:17999750 (ALPS1_2)
 著者        Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U
 タイトル      Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
 雑誌        BMC Immunol 8:28 (2007)
 DOI:10.1186/1471-2172-8-28
 PMID:23666743 (ALPS3)
 著者        Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, C M Black G, Rene C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N
 タイトル      Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
 雑誌        Arthritis Rheum 65:2161-71 (2013)
 DOI:10.1002/art.38008
 PMID:17517660 (ALPS4)
 著者        Oliveira JB, Bidere N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ
 タイトル      NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
 雑誌        Proc Natl Acad Sci U S A 104:8953-8 (2007)
 DOI:10.1073/pnas.0702975104
 PMID:25213377 (ALPS5)
 著者        Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G
 タイトル      Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
 雑誌        Science 345:1623-1627 (2014)
 DOI:10.1126/science.1255904","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00108"">H00108</a>","自己免疫性リンパ増殖症候群
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 genes (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV.",,"(ALPS1A) FAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]
 (ALPS1B) FASLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:356"">356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04389"">K04389</a>]
 (ALPS2A) CASP10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:843"">843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04400"">K04400</a>]
 (ALPS2B) CASP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:841"">841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04398"">K04398</a>]
 (ALPS3) PRKCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5580"">5580</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06068"">K06068</a>]
 (ALPS4) NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 (ALPS5) CTLA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]",,,,,,"ICD-11: 4A01.22
 ICD-10: D47.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056735"">D056735</a>
 OMIM: <a href=""https://www.omim.org/entry/601859"">601859</a> <a href=""https://www.omim.org/entry/603909"">603909</a> <a href=""https://www.omim.org/entry/614470"">614470</a> <a href=""https://www.omim.org/entry/615559"">615559</a> <a href=""https://www.omim.org/entry/607271"">607271</a> <a href=""https://www.omim.org/entry/616100"">616100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16611303"">16611303</a>
 著者        Worth A, Thrasher AJ, Gaspar HB
 タイトル      Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.
 雑誌        Br J Haematol 133:124-40 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2006.05993.x"">10.1111/j.1365-2141.2006.05993.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17999750"">17999750</a> (ALPS1_2)
 著者        Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U
 タイトル      Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
 雑誌        BMC Immunol 8:28 (2007)
 DOI:<a href=""https://doi.org/10.1186/1471-2172-8-28"">10.1186/1471-2172-8-28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23666743"">23666743</a> (ALPS3)
 著者        Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, C M Black G, Rene C, Eliaou JF, Fabien N, Ranchin B, Cochat P, Gaffney PM, Rozenberg F, Lebon P, Malcus C, Crow YJ, Brognard J, Bonnefoy N
 タイトル      Protein kinase cdelta deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
 雑誌        Arthritis Rheum 65:2161-71 (2013)
 DOI:<a href=""https://doi.org/10.1002/art.38008"">10.1002/art.38008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17517660"">17517660</a> (ALPS4)
 著者        Oliveira JB, Bidere N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ
 タイトル      NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
 雑誌        Proc Natl Acad Sci U S A 104:8953-8 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0702975104"">10.1073/pnas.0702975104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25213377"">25213377</a> (ALPS5)
 著者        Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G
 タイトル      Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
 雑誌        Science 345:1623-1627 (2014)
 DOI:<a href=""https://doi.org/10.1126/science.1255904"">10.1126/science.1255904</a>"
H00109,"家族性血球貪食症候群
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen, bone marrow, and CNS. The symptoms include fever, hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the major immune cytotoxic protein, were detected with frequency between 15% and 50% of all FHPL patients. UNC13D is the second gene associated with FHPL. The encoded protein (Munc13-4) is important for cytolytic granule exocytosis. Recently a third FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking, but its precise role is not known.",原発性免疫不全症候群,,"(FHL2) PRF1 [HSA:5551] [KO:K07818]
 (FHL3) UNC13D [HSA:201294] [KO:K19728]
 (FHL4) STX11 [HSA:8676] [KO:K08487]
 (FHL5) STXBP2 [HSA:6813] [KO:K15300]
 (FHL6) RC3H1 [HSA:149041] [KO:K15690]",,,,,,"ICD-11: 4A01.23
 ICD-10: D76.1
 MeSH: D056735
 OMIM: 267700 603553 608898 603552 613101 618998","PMID:16304363 (FHL2, FHL3, FHL4)
 著者        Janka G, zur Stadt U
 タイトル      Familial and acquired hemophagocytic lymphohistiocytosis.
 雑誌        Hematology Am Soc Hematol Educ Program 82-8 (2005)
 DOI:10.1182/asheducation-2005.1.82
 PMID:17162365 (FHL2, FHL3, FHL4)
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:10.1080/17402520600800705
 PMID:17952897 (FHL2, FHL3, FHL4)
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:10.1016/j.jaci.2007.08.053
 PMID:20798128 (FHL5)
 著者        Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Arico M
 タイトル      STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
 雑誌        J Med Genet 47:595-600 (2010)
 DOI:10.1136/jmg.2009.075341
 PMID:31636267 (FHL6)
 著者        Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F
 タイトル      A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
 雑誌        Nat Commun 10:4779 (2019)
 DOI:10.1038/s41467-019-12704-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00109"">H00109</a>","家族性血球貪食症候群
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen, bone marrow, and CNS. The symptoms include fever, hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the major immune cytotoxic protein, were detected with frequency between 15% and 50% of all FHPL patients. UNC13D is the second gene associated with FHPL. The encoded protein (Munc13-4) is important for cytolytic granule exocytosis. Recently a third FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking, but its precise role is not known.",,"(FHL2) PRF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5551"">5551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07818"">K07818</a>]
 (FHL3) UNC13D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201294"">201294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19728"">K19728</a>]
 (FHL4) STX11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8676"">8676</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08487"">K08487</a>]
 (FHL5) STXBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6813"">6813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15300"">K15300</a>]
 (FHL6) RC3H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149041"">149041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15690"">K15690</a>]",,,,,,"ICD-11: 4A01.23
 ICD-10: D76.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056735"">D056735</a>
 OMIM: <a href=""https://www.omim.org/entry/267700"">267700</a> <a href=""https://www.omim.org/entry/603553"">603553</a> <a href=""https://www.omim.org/entry/608898"">608898</a> <a href=""https://www.omim.org/entry/603552"">603552</a> <a href=""https://www.omim.org/entry/613101"">613101</a> <a href=""https://www.omim.org/entry/618998"">618998</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16304363"">16304363</a> (FHL2, <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL3,"">FHL3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL4)"">FHL4)</a>
 著者        Janka G, zur Stadt U
 タイトル      Familial and acquired hemophagocytic lymphohistiocytosis.
 雑誌        Hematology Am Soc Hematol Educ Program 82-8 (2005)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2005.1.82"">10.1182/asheducation-2005.1.82</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17162365"">17162365</a> (FHL2, <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL3,"">FHL3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL4)"">FHL4)</a>
 著者        Kumar A, Teuber SS, Gershwin ME.
 タイトル      Current perspectives on primary immunodeficiency diseases.
 雑誌        Clin Dev Immunol 13:223-59 (2006)
 DOI:<a href=""https://doi.org/10.1080/17402520600800705"">10.1080/17402520600800705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952897"">17952897</a> (FHL2, <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL3,"">FHL3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FHL4)"">FHL4)</a>
 著者        Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
 タイトル      Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
 雑誌        J Allergy Clin Immunol 120:776-94 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2007.08.053"">10.1016/j.jaci.2007.08.053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20798128"">20798128</a> (FHL5)
 著者        Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Arico M
 タイトル      STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
 雑誌        J Med Genet 47:595-600 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.075341"">10.1136/jmg.2009.075341</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31636267"">31636267</a> (FHL6)
 著者        Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F
 タイトル      A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
 雑誌        Nat Commun 10:4779 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-12704-6"">10.1038/s41467-019-12704-6</a>"
H00110,コレラ,,,"Cholera is an infection of the small intestine caused by toxigenic strains of Vibrio cholerae, mostly belonging to the O1 serogroup but also to the O139 serogroup. Seven cholera pandemics have occurred since 1817, with six pandemics originating in India and the seventh pandemic originating in Indonesia in 1961. The last outbreak is dominated by an O1 variant named El Tor and has continued to the present. The O139 serogroup was first observed in 1992 in India and associated with epidemics in localized areas.",感染症,,,"Vibrio cholerae O1 [GN:vch vcf vcs vce vcq vcj vci vco vcr vcm]
 モジュール     M00852  Vibrio cholerae pathogenicity signature, toxin coregulated pilus
 M00850  Vibrio cholerae pathogenicity signature, cholera toxins",,,"ノルフロキサシン [DR:D00210]
 レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]
 プルリフロキサシン [DR:D01144]",,"ICD-11: 1A00
 ICD-10: A00
 MeSH: D002771
 MedlinePlus: 000303","PMID:7704895
 著者        Kaper JB, Morris JG Jr, Levine MM
 タイトル      Cholera.
 雑誌        Clin Microbiol Rev 8:48-86 (1995)
 DOI:10.1128/CMR.8.1.48-86.1995
 PMID:21803312
 著者        Mandal S, Mandal MD, Pal NK
 タイトル      Cholera: a great global concern.
 雑誌        Asian Pac J Trop Med 4:573-80 (2011)
 DOI:10.1016/S1995-7645(11)60149-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00110"">H00110</a>",コレラ,"Cholera is an infection of the small intestine caused by toxigenic strains of Vibrio cholerae, mostly belonging to the O1 serogroup but also to the O139 serogroup. Seven cholera pandemics have occurred since 1817, with six pandemics originating in India and the seventh pandemic originating in Indonesia in 1961. The last outbreak is dominated by an O1 variant named El Tor and has continued to the present. The O139 serogroup was first observed in 1992 in India and associated with epidemics in localized areas.",,,"Vibrio cholerae O1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vch"">vch</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcf"">vcf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcs"">vcs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vce"">vce</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcq"">vcq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcj"">vcj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vci"">vci</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vco"">vco</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcr"">vcr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vcm"">vcm</a>]
 モジュール     M00852  Vibrio cholerae pathogenicity signature, toxin coregulated pilus
 M00850  Vibrio cholerae pathogenicity signature, cholera toxins",,,"ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]
 プルリフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01144"">D01144</a>]",,"ICD-11: 1A00
 ICD-10: A00
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002771"">D002771</a>
 MedlinePlus: 000303","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7704895"">7704895</a>
 著者        Kaper JB, Morris JG Jr, Levine MM
 タイトル      Cholera.
 雑誌        Clin Microbiol Rev 8:48-86 (1995)
 DOI:<a href=""https://doi.org/10.1128/CMR.8.1.48-86.1995"">10.1128/CMR.8.1.48-86.1995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21803312"">21803312</a>
 著者        Mandal S, Mandal MD, Pal NK
 タイトル      Cholera: a great global concern.
 雑誌        Asian Pac J Trop Med 4:573-80 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1995-7645(11)60149-1"">10.1016/S1995-7645(11)60149-1</a>"
H00111,腸チフス,,,"Typhoid fever, or typhoid, caused by Salmonella enterica serovar Typhi is a systemic febrile disease and endemic disease in many areas of the world, mainly in developing countries. Typhoid is transmitted through ingestion of contaminated water or food and characterized by a variable incubation period ranging from three days to one month.",感染症,,,"Salmonella enterica subsp. enterica serovar Typhi [GN:sty stt sex]
 モジュール     M00856  Salmonella enterica pathogenicity signature, typhoid toxin
 M00857  Salmonella enterica pathogenicity signature, Vi antigen",,,"クロラムフェニコール [DR:D00104]
 オフロキサシン [DR:D00453]
 ノルフロキサシン [DR:D00210]
 レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 スルファメトキサゾール・トリメトプリム [DR:D00285]",,"ICD-11: 1A07
 ICD-10: A01.0
 MeSH: D014435
 MedlinePlus: 001332","PMID:19397806
 著者        Bhunia R, Hutin Y, Ramakrishnan R, Pal N, Sen T, Murhekar M
 タイトル      A typhoid fever outbreak in a slum of South Dumdum municipality, West Bengal, India, 2007: evidence for foodborne and waterborne transmission.
 雑誌        BMC Public Health 9:115 (2009)
 DOI:10.1186/1471-2458-9-115
 PMID:20014951
 著者        Crump JA, Mintz ED
 タイトル      Global trends in typhoid and paratyphoid Fever.
 雑誌        Clin Infect Dis 50:241-6 (2010)
 DOI:10.1086/649541
 PMID:21945101
 著者        Kaur J, Jain SK
 タイトル      Role of antigens and virulence factors of Salmonella enterica serovar Typhi in its pathogenesis.
 雑誌        Microbiol Res 167:199-210 (2012)
 DOI:10.1016/j.micres.2011.08.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00111"">H00111</a>",腸チフス,"Typhoid fever, or typhoid, caused by Salmonella enterica serovar Typhi is a systemic febrile disease and endemic disease in many areas of the world, mainly in developing countries. Typhoid is transmitted through ingestion of contaminated water or food and characterized by a variable incubation period ranging from three days to one month.",,,"Salmonella enterica subsp. enterica serovar Typhi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sty"">sty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stt"">stt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sex"">sex</a>]
 モジュール     M00856  Salmonella enterica pathogenicity signature, typhoid toxin
 M00857  Salmonella enterica pathogenicity signature, Vi antigen",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 オフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00453"">D00453</a>]
 ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 スルファメトキサゾール・トリメトプリム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00285"">D00285</a>]",,"ICD-11: 1A07
 ICD-10: A01.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014435"">D014435</a>
 MedlinePlus: 001332","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19397806"">19397806</a>
 著者        Bhunia R, Hutin Y, Ramakrishnan R, Pal N, Sen T, Murhekar M
 タイトル      A typhoid fever outbreak in a slum of South Dumdum municipality, West Bengal, India, 2007: evidence for foodborne and waterborne transmission.
 雑誌        BMC Public Health 9:115 (2009)
 DOI:<a href=""https://doi.org/10.1186/1471-2458-9-115"">10.1186/1471-2458-9-115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20014951"">20014951</a>
 著者        Crump JA, Mintz ED
 タイトル      Global trends in typhoid and paratyphoid Fever.
 雑誌        Clin Infect Dis 50:241-6 (2010)
 DOI:<a href=""https://doi.org/10.1086/649541"">10.1086/649541</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21945101"">21945101</a>
 著者        Kaur J, Jain SK
 タイトル      Role of antigens and virulence factors of Salmonella enterica serovar Typhi in its pathogenesis.
 雑誌        Microbiol Res 167:199-210 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.micres.2011.08.001"">10.1016/j.micres.2011.08.001</a>"
H00112,パラチフス,,,Paratyphoid fever is a systemic febrile illness endemic in developing countries where sanitation is lacking and access to clean water is reduced. The disease is similar to typhoid fever [DS:H00111] but gives a milder infection.,感染症,,,"Salmonella enterica serovar Paratyphi A [GN:spt sek]
 Salmonella enterica serovar Paratyphi B [GN:spq]
 Salmonella enterica serovar Paratyphi C [GN:sei]",,,"クロラムフェニコール [DR:D00104]
 オフロキサシン [DR:D00453]
 ノルフロキサシン [DR:D00210]
 レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 スルファメトキサゾール・トリメトプリム [DR:D00285]",,"ICD-11: 1A08
 ICD-10: A01.1 A01.2 A01.3 A01.4
 MeSH: D010284","PMID:21301658
 著者        Mayer CA, Neilson AA
 タイトル      Typhoid and paratyphoid fever - prevention in travellers.
 雑誌        Aust Fam Physician 39:847-51 (2010)
 PMID:16700236
 著者        Xavier G
 タイトル      Management of typhoid and paratyphoid fevers.
 雑誌        Nurs Times 102:49-51 (2006)
 PMID:20014951
 著者        Crump JA, Mintz ED
 タイトル      Global trends in typhoid and paratyphoid Fever.
 雑誌        Clin Infect Dis 50:241-6 (2010)
 DOI:10.1086/649541","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00112"">H00112</a>",パラチフス,"Paratyphoid fever is a systemic febrile illness endemic in developing countries where sanitation is lacking and access to clean water is reduced. The disease is similar to typhoid fever [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00111"">H00111</a>] but gives a milder infection.",,,"Salmonella enterica serovar Paratyphi A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spt"">spt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sek"">sek</a>]
 Salmonella enterica serovar Paratyphi B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spq"">spq</a>]
 Salmonella enterica serovar Paratyphi C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sei"">sei</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 オフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00453"">D00453</a>]
 ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 スルファメトキサゾール・トリメトプリム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00285"">D00285</a>]",,"ICD-11: 1A08
 ICD-10: A01.1 A01.2 A01.3 A01.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010284"">D010284</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21301658"">21301658</a>
 著者        Mayer CA, Neilson AA
 タイトル      Typhoid and paratyphoid fever - prevention in travellers.
 雑誌        Aust Fam Physician 39:847-51 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16700236"">16700236</a>
 著者        Xavier G
 タイトル      Management of typhoid and paratyphoid fevers.
 雑誌        Nurs Times 102:49-51 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20014951"">20014951</a>
 著者        Crump JA, Mintz ED
 タイトル      Global trends in typhoid and paratyphoid Fever.
 雑誌        Clin Infect Dis 50:241-6 (2010)
 DOI:<a href=""https://doi.org/10.1086/649541"">10.1086/649541</a>"
H00113,サルモネラ感染症,,,"Salmonellosis (non-typhoid) is an infectious disease caused by any serotype of bacteria in the genus Salmonella, other than Salmonella that causes typhoid and paratyphoid fever. Salmonellosis is one of the most frequently occurring food-borne diseases worldwide. Foods prepared with contaminated raw eggs, egg products, and insufficiently heated meat have been identified as the primary sources of human Salmonella infections.",感染症,"nt06110  MAPK signaling (viruses and bacteria)
 nt06115  WNT signaling (viruses and bacteria)
 nt06123  TNF signaling (viruses and bacteria)
 nt06125  Membrane trafficking (bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06139  NLR signaling (viruses and bacteria)",,"Salmonella enterica subsp. enterica serovar Typhimurium [GN:stm seo sev sey sem setu setc send seni]
 Salmonella enterica subsp. enterica serovar Choleraesuis [GN:sec]
 Salmonella enterica subsp. enterica serovar Heidelberg [GN:seh shb senh seeh]
 Salmonella enterica subsp. enterica serovar Newport [GN:see]
 Salmonella enterica subsp. enterica serovar Schwarzengrund [GN:sew]
 Salmonella enterica subsp. enterica serovar Agona [GN:sea sens]
 Salmonella enterica subsp. enterica serovar Dublin [GN:sed]
 Salmonella enterica subsp. enterica serovar Enteritidis [GN:set]
 Salmonella enterica subsp. enterica Serovar Cubana [GN:seec]
 Salmonella enterica subsp. arizonae serovar 62:z4,z23:- RSK2980 [GN:ses]",,,,,"ICD-11: 1A09
 ICD-10: A02
 MeSH: D012478","PMID:22016569
 著者        Alvarez-Ordonez A, Begley M, Prieto M, Messens W, Lopez M, Bernardo A, Hill C
 タイトル      Salmonella spp. survival strategies within the host gastrointestinal tract.
 雑誌        Microbiology 157:3268-81 (2011)
 DOI:10.1099/mic.0.050351-0
 PMID:21856826
 著者        Wattiau P, Boland C, Bertrand S
 タイトル      Methodologies for Salmonella enterica subsp. enterica subtyping: gold standards and alternatives.
 雑誌        Appl Environ Microbiol 77:7877-85 (2011)
 DOI:10.1128/AEM.05527-11
 PMID:18577459
 著者        Dunkley KD, Callaway TR, Chalova VI, McReynolds JL, Hume ME, Dunkley CS, Kubena LF, Nisbet DJ, Ricke SC
 タイトル      Foodborne Salmonella ecology in the avian gastrointestinal tract.
 雑誌        Anaerobe 15:26-35 (2009)
 DOI:10.1016/j.anaerobe.2008.05.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00113"">H00113</a>",サルモネラ感染症,"Salmonellosis (non-typhoid) is an infectious disease caused by any serotype of bacteria in the genus Salmonella, other than Salmonella that causes typhoid and paratyphoid fever. Salmonellosis is one of the most frequently occurring food-borne diseases worldwide. Foods prepared with contaminated raw eggs, egg products, and insufficiently heated meat have been identified as the primary sources of human Salmonella infections.","<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06115"">nt06115</a>  WNT signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06125"">nt06125</a>  Membrane trafficking (bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06139"">nt06139</a>  NLR signaling (viruses and bacteria)",,"Salmonella enterica subsp. enterica serovar Typhimurium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stm"">stm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:seo"">seo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sev"">sev</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sey"">sey</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sem"">sem</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:setu"">setu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:setc"">setc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:send"">send</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:seni"">seni</a>]
 Salmonella enterica subsp. enterica serovar Choleraesuis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sec"">sec</a>]
 Salmonella enterica subsp. enterica serovar Heidelberg [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:seh"">seh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:shb"">shb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:senh"">senh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:seeh"">seeh</a>]
 Salmonella enterica subsp. enterica serovar Newport [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:see"">see</a>]
 Salmonella enterica subsp. enterica serovar Schwarzengrund [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sew"">sew</a>]
 Salmonella enterica subsp. enterica serovar Agona [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sea"">sea</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sens"">sens</a>]
 Salmonella enterica subsp. enterica serovar Dublin [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sed"">sed</a>]
 Salmonella enterica subsp. enterica serovar Enteritidis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:set"">set</a>]
 Salmonella enterica subsp. enterica Serovar Cubana [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:seec"">seec</a>]
 Salmonella enterica subsp. arizonae serovar 62:z4,z23:- RSK2980 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ses"">ses</a>]",,,,,"ICD-11: 1A09
 ICD-10: A02
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012478"">D012478</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22016569"">22016569</a>
 著者        Alvarez-Ordonez A, Begley M, Prieto M, Messens W, Lopez M, Bernardo A, Hill C
 タイトル      Salmonella spp. survival strategies within the host gastrointestinal tract.
 雑誌        Microbiology 157:3268-81 (2011)
 DOI:<a href=""https://doi.org/10.1099/mic.0.050351-0"">10.1099/mic.0.050351-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21856826"">21856826</a>
 著者        Wattiau P, Boland C, Bertrand S
 タイトル      Methodologies for Salmonella enterica subsp. enterica subtyping: gold standards and alternatives.
 雑誌        Appl Environ Microbiol 77:7877-85 (2011)
 DOI:<a href=""https://doi.org/10.1128/AEM.05527-11"">10.1128/AEM.05527-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18577459"">18577459</a>
 著者        Dunkley KD, Callaway TR, Chalova VI, McReynolds JL, Hume ME, Dunkley CS, Kubena LF, Nisbet DJ, Ricke SC
 タイトル      Foodborne Salmonella ecology in the avian gastrointestinal tract.
 雑誌        Anaerobe 15:26-35 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.anaerobe.2008.05.007"">10.1016/j.anaerobe.2008.05.007</a>"
H00114,"フルクトース-1,6-ビスホスファターゼ欠損症",,,"Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis.",先天性代謝異常症,,"FBP1; fructose-1,6-bisphosphatase 1 [HSA:2203] [KO:K03841]",,,,,,"ICD-11: 5C51.5Y
 ICD-10: E74.1
 OMIM: 229700","PMID:8884571
 著者        van den Berghe G
 タイトル      Disorders of gluconeogenesis.
 雑誌        J Inherit Metab Dis 19:470-7 (1996)
 DOI:10.1007/BF01799108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00114"">H00114</a>","フルクトース-1,6-ビスホスファターゼ欠損症","Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis.",,"FBP1; fructose-1,6-bisphosphatase 1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2203"">2203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03841"">K03841</a>]",,,,,,"ICD-11: 5C51.5Y
 ICD-10: E74.1
 OMIM: <a href=""https://www.omim.org/entry/229700"">229700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8884571"">8884571</a>
 著者        van den Berghe G
 タイトル      Disorders of gluconeogenesis.
 雑誌        J Inherit Metab Dis 19:470-7 (1996)
 DOI:<a href=""https://doi.org/10.1007/BF01799108"">10.1007/BF01799108</a>"
H00115,"スクラーゼ・イソマルターゼ欠損症;
 I 型二糖類不耐性",,,Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.,先天性代謝異常症,,"SI; sucrase-isomaltase / oligo-1,6-glucosidase [HSA:6476] [KO:K01203]",,,,,,"ICD-11: 5C61.2
 ICD-10: E74.3
 MeSH: C538139
 OMIM: 222900","PMID:16329100
 著者        Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY
 タイトル      Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
 雑誌        Hum Mutat 27:119 (2006)
 DOI:10.1002/humu.9392","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00115"">H00115</a>","スクラーゼ・イソマルターゼ欠損症;
 I 型二糖類不耐性",Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.,,"SI; sucrase-isomaltase / oligo-1,6-glucosidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6476"">6476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01203"">K01203</a>]",,,,,,"ICD-11: 5C61.2
 ICD-10: E74.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538139"">C538139</a>
 OMIM: <a href=""https://www.omim.org/entry/222900"">222900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16329100"">16329100</a>
 著者        Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY
 タイトル      Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
 雑誌        Hum Mutat 27:119 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.9392"">10.1002/humu.9392</a>"
H00116,"乳糖不耐症;
 II 型二糖類不耐症;
 先天性ラクターゼ欠損症",,,Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose.,先天性代謝異常症,,LCT; lactase [HSA:3938] [KO:K01229],,,,"β-ガラクトシダーゼ (アスペルギルス) [DR:D03345]
 β-ガラクトシダーゼ (ペニシリウム) [DR:D03346]",,"ICD-11: 5C61.61
 ICD-10: E73.0
 MeSH: C562600
 OMIM: 223000 223100","PMID:16400612
 著者        Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I
 タイトル      Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
 雑誌        Am J Hum Genet 78:339-44 (2006)
 DOI:10.1086/500053
 PMID:14616060
 著者        Swallow DM
 タイトル      Genetics of lactase persistence and lactose intolerance.
 雑誌        Annu Rev Genet 37:197-219 (2003)
 DOI:10.1146/annurev.genet.37.110801.143820","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00116"">H00116</a>","乳糖不耐症;
 II 型二糖類不耐症;
 先天性ラクターゼ欠損症",Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose.,,"LCT; lactase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3938"">3938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01229"">K01229</a>]",,,,"β-ガラクトシダーゼ (アスペルギルス) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03345"">D03345</a>]
 β-ガラクトシダーゼ (ペニシリウム) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03346"">D03346</a>]",,"ICD-11: 5C61.61
 ICD-10: E73.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562600"">C562600</a>
 OMIM: <a href=""https://www.omim.org/entry/223000"">223000</a> <a href=""https://www.omim.org/entry/223100"">223100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16400612"">16400612</a>
 著者        Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I
 タイトル      Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
 雑誌        Am J Hum Genet 78:339-44 (2006)
 DOI:<a href=""https://doi.org/10.1086/500053"">10.1086/500053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14616060"">14616060</a>
 著者        Swallow DM
 タイトル      Genetics of lactase persistence and lactose intolerance.
 雑誌        Annu Rev Genet 37:197-219 (2003)
 DOI:<a href=""https://doi.org/10.1146/annurev.genet.37.110801.143820"">10.1146/annurev.genet.37.110801.143820</a>"
H00117,原発性高シュウ酸尿症,,,Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate.,先天性代謝異常症,,"(PH1) AGXT [HSA:189] [KO:K00830]
 (PH2) GRHPR [HSA:9380] [KO:K00049]
 (PH3) HOGA1 [HSA:112817] [KO:K18123]",,,,,,"ICD-11: 5C51.2
 ICD-10: E74.8
 MeSH: D006960
 OMIM: 259900 260000 613616","PMID:17027096
 著者        Danpure CJ
 タイトル      Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
 雑誌        Biochim Biophys Acta 1763:1776-84 (2006)
 DOI:10.1016/j.bbamcr.2006.08.021
 PMID:11518794
 著者        Leumann E, Hoppe B
 タイトル      The primary hyperoxalurias.
 雑誌        J Am Soc Nephrol 12:1986-93 (2001)
 PMID:9243228
 著者        Kemper MJ, Conrad S, Muller-Wiefel DE
 タイトル      Primary hyperoxaluria type 2.
 雑誌        Eur J Pediatr 156:509-12 (1997)
 DOI:10.1007/s004310050649
 PMID:27561601
 著者        M'dimegh S, Aquaviva-Bourdain C, Omezzine A, Souche G, M'barek I, Abidi K, Gargah T, Abroug S, Bouslama A
 タイトル      HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
 雑誌        J Clin Lab Anal 31 (2017)
 DOI:10.1002/jcla.22053","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00117"">H00117</a>",原発性高シュウ酸尿症,Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate.,,"(PH1) AGXT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:189"">189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00830"">K00830</a>]
 (PH2) GRHPR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9380"">9380</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00049"">K00049</a>]
 (PH3) HOGA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112817"">112817</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18123"">K18123</a>]",,,,,,"ICD-11: 5C51.2
 ICD-10: E74.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006960"">D006960</a>
 OMIM: <a href=""https://www.omim.org/entry/259900"">259900</a> <a href=""https://www.omim.org/entry/260000"">260000</a> <a href=""https://www.omim.org/entry/613616"">613616</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17027096"">17027096</a>
 著者        Danpure CJ
 タイトル      Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
 雑誌        Biochim Biophys Acta 1763:1776-84 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2006.08.021"">10.1016/j.bbamcr.2006.08.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11518794"">11518794</a>
 著者        Leumann E, Hoppe B
 タイトル      The primary hyperoxalurias.
 雑誌        J Am Soc Nephrol 12:1986-93 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9243228"">9243228</a>
 著者        Kemper MJ, Conrad S, Muller-Wiefel DE
 タイトル      Primary hyperoxaluria type 2.
 雑誌        Eur J Pediatr 156:509-12 (1997)
 DOI:<a href=""https://doi.org/10.1007/s004310050649"">10.1007/s004310050649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27561601"">27561601</a>
 著者        M'dimegh S, Aquaviva-Bourdain C, Omezzine A, Souche G, M'barek I, Abidi K, Gargah T, Abroug S, Bouslama A
 タイトル      HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
 雑誌        J Clin Lab Anal 31 (2017)
 DOI:<a href=""https://doi.org/10.1002/jcla.22053"">10.1002/jcla.22053</a>"
H00118,先天性グリコシル化異常症 I 型,,,"Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves disrupted synthesis of the lipid linked oligosaccharide precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum. An increasing number of disorders have been discovered, with many subtypes identified. PMM2-CDG is the most common form, with over 800 patients diagnosed mostly in Europe. Almost all type present in infancy. These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly, microcephaly, and pericardial effusion.",先天性代謝異常症,nt06015  N-Glycan biosynthesis,"(CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
 (CDG-Ib) MPI [HSA:4351] [KO:K01809]
 (CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
 (CDG-Id) ALG3 [HSA:10195] [KO:K03845]
 (CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
 (CDG-If) MPDU1 [HSA:9526] [KO:K09660]
 (CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
 (CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
 (CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
 (CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
 (CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
 (CDG-IL) ALG9 [HSA:79796] [KO:K03846]
 (CDG-Im) DOLK [HSA:22845] [KO:K00902]
 (CDG-In) RFT1 [HSA:91869] [KO:K06316]
 (CDG-Io) DPM3 [HSA:54344] [KO:K09659]
 (CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
 (CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
 (CDG-Ir) DDOST [HSA:1650] [KO:K12670]
 (CDG-Is) ALG13 [HSA:79868] [KO:K07432]
 (CDG-It) PGM1 [HSA:5236] [KO:K01835]
 (CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
 (CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
 (CDG-Iw) STT3A [HSA:3703] [KO:K07151]
 (CDG-Ix) STT3B [HSA:201595] [KO:K07151]
 (CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
 (CDG-Iz) CAD [HSA:790] [KO:K11540]
 (CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
 (CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
 (CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]",,,,,,"ICD-11: 5C54.0
 ICD-10: E77.8
 MeSH: D018981
 OMIM: 212065 602579 603147 601110 608799 609180 607143 608104 607906 608093 608540 608776 610768 612015 612937 613661 612379 614507 300884 614921 615042 615273 615596 615597 300934 616457 617082 613861 301031","PMID:16511948
 著者        Sparks SE
 タイトル      Inherited disorders of glycosylation.
 雑誌        Mol Genet Metab 87:1-7 (2006)
 DOI:10.1016/j.ymgme.2005.11.004
 PMID:12756558
 著者        Marquardt T, Denecke J
 タイトル      Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
 雑誌        Eur J Pediatr 162:359-79 (2003)
 DOI:10.1007/s00431-002-1136-0
 PMID:12905014 (CDG type Ia)
 著者        Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T
 タイトル      Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
 雑誌        Eur J Pediatr 162:710-3 (2003)
 DOI:10.1007/s00431-003-1278-8
 PMID:12414827 (CDG type Ib)
 著者        Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N
 タイトル      Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
 雑誌        J Med Genet 39:849-51 (2002)
 DOI:10.1136/jmg.39.11.849
 PMID:10359825 (CDG type Ic)
 著者        Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T
 タイトル      A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
 雑誌        Proc Natl Acad Sci U S A 96:6982-7 (1999)
 DOI:10.1073/pnas.96.12.6982
 PMID:15108280 (CDG type Id)
 著者        Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T
 タイトル      An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
 雑誌        Hum Mutat 23:477-86 (2004)
 DOI:10.1002/humu.20026
 PMID:12736397 (CDG type Ig)
 著者        Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J
 タイトル      Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
 雑誌        Pediatr Res 54:224-9 (2003)
 DOI:10.1203/01.PDR.0000072327.55955.F7
 PMID:15235028 (CDG type Ih)
 著者        Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G
 タイトル      Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
 雑誌        J Med Genet 41:550-6 (2004)
 DOI:10.1136/jmg.2003.016923
 PMID:12684507 (CDG type Ii)
 著者        Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.
 タイトル      A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
 雑誌        J Biol Chem 278:22498-505 (2003)
 DOI:10.1074/jbc.M302850200
 PMID:12872255 (CDG type Ij)
 著者        Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
 タイトル      Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
 雑誌        Hum Mutat 22:144-50 (2003)
 DOI:10.1002/humu.10239
 PMID:17273964 (CDG type Im)
 著者        Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T
 タイトル      A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
 雑誌        Am J Hum Genet 80:433-40 (2007)
 DOI:10.1086/512130
 PMID:18313027 (CDG type In)
 著者        Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T
 タイトル      Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
 雑誌        Am J Hum Genet 82:600-6 (2008)
 DOI:10.1016/j.ajhg.2007.12.021
 PMID:19576565 (CDG type Io)
 著者        Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA
 タイトル      Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
 雑誌        Am J Hum Genet 85:76-86 (2009)
 DOI:10.1016/j.ajhg.2009.06.006
 PMID:20080937 (CDG type Ip)
 著者        Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Korner C
 タイトル      A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
 雑誌        Hum Mol Genet 19:1413-24 (2010)
 DOI:10.1093/hmg/ddq016
 PMID:20637498 (CDG type Iq)
 著者        Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
 タイトル      SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
 雑誌        Cell 142:203-17 (2010)
 DOI:10.1016/j.cell.2010.06.001
 PMID:22305527 (CDG type Ir)
 著者        Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR
 タイトル      DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
 雑誌        Am J Hum Genet 90:363-8 (2012)
 DOI:10.1016/j.ajhg.2011.12.024
 PMID:22492991 (CDG type Is)
 著者        Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ
 タイトル      Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
 雑誌        Hum Mol Genet 21:4151-61 (2012)
 DOI:10.1093/hmg/dds123
 PMID:23109149 (CDG type Iu)
 著者        Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ
 タイトル      DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
 雑誌        Ann Neurol 72:550-8 (2012)
 DOI:10.1002/ana.23632
 PMID:23842455 (CDG type Iw, Ix)
 著者        Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH
 タイトル      Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
 雑誌        Hum Mol Genet 22:4638-45 (2013)
 DOI:10.1093/hmg/ddt312
 PMID:17716641 (marker)
 著者        Marklova E, Albahri Z
 タイトル      Screening and diagnosis of congenital disorders of glycosylation.
 雑誌        Clin Chim Acta 385:6-20 (2007)
 DOI:10.1016/j.cca.2007.07.002
 PMID:17523137 (marker)
 著者        Sanz-Nebot V, Balaguer E, Benavente F, Neususs C, Barbosa J
 タイトル      Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS.
 雑誌        Electrophoresis 28:1949-57 (2007)
 DOI:10.1002/elps.200600648
 PMID:19862844
 著者        Haeuptle MA, Hennet T
 タイトル      Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
 雑誌        Hum Mutat 30:1628-41 (2009)
 DOI:10.1002/humu.21126
 PMID:24218363 (CDG type Iy)
 著者        Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH
 タイトル      A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
 雑誌        Hum Mol Genet 23:1602-5 (2014)
 DOI:10.1093/hmg/ddt550
 PMID:28007989 (CDG type Iz)
 著者        Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
 タイトル      CAD mutations and uridine-responsive epileptic encephalopathy.
 雑誌        Brain 140:279-286 (2017)
 DOI:10.1093/brain/aww300
 PMID:25066056 (CDG type Iaa)
 著者        Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, Hansikova H, Honzik T, Zeman J, Hulkova H, Wen R, Kmoch S, Sessa WC
 タイトル      Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
 雑誌        Cell Metab 20:448-57 (2014)
 DOI:10.1016/j.cmet.2014.06.016
 PMID:24499211
 著者        Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
 タイトル      Multiple phenotypes in phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 370:533-42 (2014)
 DOI:10.1056/NEJMoa1206605
 PMID:27343064
 著者        Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE
 タイトル      A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
 雑誌        Orphanet J Rare Dis 11:84 (2016)
 DOI:10.1186/s13023-016-0468-1
 PMID:31036665
 著者        Blommaert E, Peanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G
 タイトル      Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
 雑誌        Proc Natl Acad Sci U S A 116:9865-9870 (2019)
 DOI:10.1073/pnas.1817815116","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00118"">H00118</a>",先天性グリコシル化異常症 I 型,"Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves disrupted synthesis of the lipid linked oligosaccharide precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum. An increasing number of disorders have been discovered, with many subtypes identified. PMM2-CDG is the most common form, with over 800 patients diagnosed mostly in Europe. Almost all type present in infancy. These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly, microcephaly, and pericardial effusion.","<a href=""https://www.kegg.jp/network/nt06015"">nt06015</a>  N-Glycan biosynthesis","(CDG-Ia) PMM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5373"">5373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17497"">K17497</a>]
 (CDG-Ib) MPI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4351"">4351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01809"">K01809</a>]
 (CDG-Ic) ALG6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29929"">29929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03848"">K03848</a>]
 (CDG-Id) ALG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10195"">10195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03845"">K03845</a>]
 (CDG-Ie) DPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8813"">8813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00721"">K00721</a>]
 (CDG-If) MPDU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9526"">9526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09660"">K09660</a>]
 (CDG-Ig) ALG12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79087"">79087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03847"">K03847</a>]
 (CDG-Ih) ALG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79053"">79053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03849"">K03849</a>]
 (CDG-Ii) ALG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85365"">85365</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03843"">K03843</a>]
 (CDG-Ij) DPAGT1, ALG7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1798"">1798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01001"">K01001</a>]
 (CDG-Ik) ALG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56052"">56052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03842"">K03842</a>]
 (CDG-IL) ALG9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79796"">79796</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03846"">K03846</a>]
 (CDG-Im) DOLK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22845"">22845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00902"">K00902</a>]
 (CDG-In) RFT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91869"">91869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06316"">K06316</a>]
 (CDG-Io) DPM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54344"">54344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09659"">K09659</a>]
 (CDG-Ip) ALG11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440138"">440138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03844"">K03844</a>]
 (CDG-Iq) SRD5A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79644"">79644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12345"">K12345</a>]
 (CDG-Ir) DDOST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1650"">1650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12670"">K12670</a>]
 (CDG-Is) ALG13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79868"">79868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07432"">K07432</a>]
 (CDG-It) PGM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5236"">5236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01835"">K01835</a>]
 (CDG-Iu) DPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8818"">8818</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09658"">K09658</a>]
 (CDG-Iv) NGLY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55768"">55768</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01456"">K01456</a>]
 (CDG-Iw) STT3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3703"">3703</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07151"">K07151</a>]
 (CDG-Ix) STT3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201595"">201595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07151"">K07151</a>]
 (CDG-Iy) SSR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6748"">6748</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04571"">K04571</a>]
 (CDG-Iz) CAD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:790"">790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11540"">K11540</a>]
 (CDG-Iaa) NUS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116150"">116150</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19177"">K19177</a>]
 (CDG-Ibb) DHDDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79947"">79947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11778"">K11778</a>]
 (CDG-Icc) MAGT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84061"">84061</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19478"">K19478</a>]",,,,,,"ICD-11: 5C54.0
 ICD-10: E77.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018981"">D018981</a>
 OMIM: <a href=""https://www.omim.org/entry/212065"">212065</a> <a href=""https://www.omim.org/entry/602579"">602579</a> <a href=""https://www.omim.org/entry/603147"">603147</a> <a href=""https://www.omim.org/entry/601110"">601110</a> <a href=""https://www.omim.org/entry/608799"">608799</a> <a href=""https://www.omim.org/entry/609180"">609180</a> <a href=""https://www.omim.org/entry/607143"">607143</a> <a href=""https://www.omim.org/entry/608104"">608104</a> <a href=""https://www.omim.org/entry/607906"">607906</a> <a href=""https://www.omim.org/entry/608093"">608093</a> <a href=""https://www.omim.org/entry/608540"">608540</a> <a href=""https://www.omim.org/entry/608776"">608776</a> <a href=""https://www.omim.org/entry/610768"">610768</a> <a href=""https://www.omim.org/entry/612015"">612015</a> <a href=""https://www.omim.org/entry/612937"">612937</a> <a href=""https://www.omim.org/entry/613661"">613661</a> <a href=""https://www.omim.org/entry/612379"">612379</a> <a href=""https://www.omim.org/entry/614507"">614507</a> <a href=""https://www.omim.org/entry/300884"">300884</a> <a href=""https://www.omim.org/entry/614921"">614921</a> <a href=""https://www.omim.org/entry/615042"">615042</a> <a href=""https://www.omim.org/entry/615273"">615273</a> <a href=""https://www.omim.org/entry/615596"">615596</a> <a href=""https://www.omim.org/entry/615597"">615597</a> <a href=""https://www.omim.org/entry/300934"">300934</a> <a href=""https://www.omim.org/entry/616457"">616457</a> <a href=""https://www.omim.org/entry/617082"">617082</a> <a href=""https://www.omim.org/entry/613861"">613861</a> <a href=""https://www.omim.org/entry/301031"">301031</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16511948"">16511948</a>
 著者        Sparks SE
 タイトル      Inherited disorders of glycosylation.
 雑誌        Mol Genet Metab 87:1-7 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.11.004"">10.1016/j.ymgme.2005.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12756558"">12756558</a>
 著者        Marquardt T, Denecke J
 タイトル      Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
 雑誌        Eur J Pediatr 162:359-79 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00431-002-1136-0"">10.1007/s00431-002-1136-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12905014"">12905014</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ia)"">Ia)</a>
 著者        Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T
 タイトル      Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
 雑誌        Eur J Pediatr 162:710-3 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00431-003-1278-8"">10.1007/s00431-003-1278-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12414827"">12414827</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ib)"">Ib)</a>
 著者        Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N
 タイトル      Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
 雑誌        J Med Genet 39:849-51 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.11.849"">10.1136/jmg.39.11.849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10359825"">10359825</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ic)"">Ic)</a>
 著者        Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T
 タイトル      A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
 雑誌        Proc Natl Acad Sci U S A 96:6982-7 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.12.6982"">10.1073/pnas.96.12.6982</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15108280"">15108280</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Id)"">Id)</a>
 著者        Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T
 タイトル      An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
 雑誌        Hum Mutat 23:477-86 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.20026"">10.1002/humu.20026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12736397"">12736397</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ig)"">Ig)</a>
 著者        Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J
 タイトル      Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
 雑誌        Pediatr Res 54:224-9 (2003)
 DOI:<a href=""https://doi.org/10.1203/01.PDR.0000072327.55955.F7"">10.1203/01.PDR.0000072327.55955.F7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15235028"">15235028</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ih)"">Ih)</a>
 著者        Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G
 タイトル      Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
 雑誌        J Med Genet 41:550-6 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.016923"">10.1136/jmg.2003.016923</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12684507"">12684507</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ii)"">Ii)</a>
 著者        Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.
 タイトル      A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
 雑誌        J Biol Chem 278:22498-505 (2003)
 DOI:<a href=""https://doi.org/10.1074/jbc.M302850200"">10.1074/jbc.M302850200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12872255"">12872255</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ij)"">Ij)</a>
 著者        Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
 タイトル      Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
 雑誌        Hum Mutat 22:144-50 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10239"">10.1002/humu.10239</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273964"">17273964</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Im)"">Im)</a>
 著者        Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T
 タイトル      A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
 雑誌        Am J Hum Genet 80:433-40 (2007)
 DOI:<a href=""https://doi.org/10.1086/512130"">10.1086/512130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18313027"">18313027</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/In)"">In)</a>
 著者        Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T
 タイトル      Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
 雑誌        Am J Hum Genet 82:600-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.12.021"">10.1016/j.ajhg.2007.12.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19576565"">19576565</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Io)"">Io)</a>
 著者        Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA
 タイトル      Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
 雑誌        Am J Hum Genet 85:76-86 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.006"">10.1016/j.ajhg.2009.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20080937"">20080937</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ip)"">Ip)</a>
 著者        Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Korner C
 タイトル      A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
 雑誌        Hum Mol Genet 19:1413-24 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq016"">10.1093/hmg/ddq016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20637498"">20637498</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iq)"">Iq)</a>
 著者        Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
 タイトル      SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
 雑誌        Cell 142:203-17 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2010.06.001"">10.1016/j.cell.2010.06.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22305527"">22305527</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ir)"">Ir)</a>
 著者        Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR
 タイトル      DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
 雑誌        Am J Hum Genet 90:363-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.024"">10.1016/j.ajhg.2011.12.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22492991"">22492991</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Is)"">Is)</a>
 著者        Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ
 タイトル      Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
 雑誌        Hum Mol Genet 21:4151-61 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds123"">10.1093/hmg/dds123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23109149"">23109149</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iu)"">Iu)</a>
 著者        Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ
 タイトル      DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
 雑誌        Ann Neurol 72:550-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23632"">10.1002/ana.23632</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23842455"">23842455</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iw,"">Iw,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Ix)"">Ix)</a>
 著者        Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH
 タイトル      Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
 雑誌        Hum Mol Genet 22:4638-45 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt312"">10.1093/hmg/ddt312</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17716641"">17716641</a> (marker)
 著者        Marklova E, Albahri Z
 タイトル      Screening and diagnosis of congenital disorders of glycosylation.
 雑誌        Clin Chim Acta 385:6-20 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2007.07.002"">10.1016/j.cca.2007.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17523137"">17523137</a> (marker)
 著者        Sanz-Nebot V, Balaguer E, Benavente F, Neususs C, Barbosa J
 タイトル      Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS.
 雑誌        Electrophoresis 28:1949-57 (2007)
 DOI:<a href=""https://doi.org/10.1002/elps.200600648"">10.1002/elps.200600648</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19862844"">19862844</a>
 著者        Haeuptle MA, Hennet T
 タイトル      Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
 雑誌        Hum Mutat 30:1628-41 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21126"">10.1002/humu.21126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24218363"">24218363</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iy)"">Iy)</a>
 著者        Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH
 タイトル      A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
 雑誌        Hum Mol Genet 23:1602-5 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt550"">10.1093/hmg/ddt550</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28007989"">28007989</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iz)"">Iz)</a>
 著者        Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
 タイトル      CAD mutations and uridine-responsive epileptic encephalopathy.
 雑誌        Brain 140:279-286 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/aww300"">10.1093/brain/aww300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25066056"">25066056</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Iaa)"">Iaa)</a>
 著者        Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, Hansikova H, Honzik T, Zeman J, Hulkova H, Wen R, Kmoch S, Sessa WC
 タイトル      Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
 雑誌        Cell Metab 20:448-57 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.cmet.2014.06.016"">10.1016/j.cmet.2014.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24499211"">24499211</a>
 著者        Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
 タイトル      Multiple phenotypes in phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 370:533-42 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1206605"">10.1056/NEJMoa1206605</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27343064"">27343064</a>
 著者        Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE
 タイトル      A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
 雑誌        Orphanet J Rare Dis 11:84 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13023-016-0468-1"">10.1186/s13023-016-0468-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31036665"">31036665</a>
 著者        Blommaert E, Peanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G
 タイトル      Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
 雑誌        Proc Natl Acad Sci U S A 116:9865-9870 (2019)
 DOI:<a href=""https://doi.org/10.1073/pnas.1817815116"">10.1073/pnas.1817815116</a>"
H00119,先天性グリコシル化異常症 II 型,,,"Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing of N-glycans on the glycosylated proteins either late in the endoplasmic reticulum or the Golgi compartments. Multiple subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe psychomotor retardation, no peripheral neuropathy and a cerebellar hypoplasia. According to the serum transferrin glycoform, a portion of CDG-II can be diagnosed. Distinct from CDG-I, the serum trisialo- and asialotransferrin are increased in CDG-II.",先天性代謝異常症,nt06015  N-Glycan biosynthesis,"(CDG-IIa) MGAT2 [HSA:4247] [KO:K00736]
 (CDG-IIb) GCS1 [HSA:7841] [KO:K01228]
 (CDG-IIc) SLC35C1 [HSA:55343] [KO:K15279]
 (CDG-IId) B4GALT1 [HSA:2683] [KO:K07966]
 (CDG-IIe) COG7 [HSA:91949] [KO:K20294]
 (CDG-IIf) SLC35A1 [HSA:10559] [KO:K15272]
 (CDG-IIg) COG1 [HSA:9382] [KO:K20288]
 (CDG-IIh) COG8 [HSA:84342] [KO:K20295]
 (CDG-IIi) COG5 [HSA:10466] [KO:K20292]
 (CDG-IIj) COG4 [HSA:25839] [KO:K20291]
 (CDG-IIk) TMEM165 [HSA:55858] [KO:K23541]
 (CDG-IIl) COG6 [HSA:57511] [KO:K20293]
 (CDG-IIm) SLC35A2 [HSA:7355] [KO:K15272]
 (CDG-IIn) SLC39A8 [HSA:64116] [KO:K14714]
 (CDG-IIo) CCDC115 [HSA:84317] [KO:K23543]
 (CDG-IIp) TMEM199 [HSA:147007] [KO:K23542]
 (CDG-IIq) COG2 [HSA:22796] [KO:K20289]
 (CDG-IIr) ATP6AP2 [HSA:10159] [KO:K19514]
 (CDG-IIs) ATP6AP1 [HSA:537] [KO:K03662]
 (CDG-IIt) GALNT2 [HSA:2590] [KO:K00710]
 (CDG-IIv) EDEM3 [HSA:80267] [KO:K10086]",,,,,,"ICD-11: 5C54.0
 ICD-10: E77.8
 MeSH: D018981
 OMIM: 212066 606056 266265 607091 603585 608779 611209 611182 613612 613489 614727 614576 300896 616721 616828 616829 617395 301045 300972 618885 619493","PMID:11228641 (CDG type IIa)
 著者        Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N
 タイトル      Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
 雑誌        J Med Genet 37:875-7 (2000)
 DOI:10.1136/jmg.37.11.875
 PMID:10788335 (CDG type IIb)
 著者        De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN
 タイトル      A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
 雑誌        Am J Hum Genet 66:1744-56 (2000)
 DOI:10.1086/302948
 PMID:11326280 (CDG type IIc)
 著者        Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C
 タイトル      Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
 雑誌        Nat Genet 28:73-6 (2001)
 DOI:10.1038/88299
 PMID:11901181 (CDG type IId)
 著者        Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C
 タイトル      Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
 雑誌        J Clin Invest 109:725-33 (2002)
 DOI:10.1172/JCI14010
 PMID:17356545 (CDG type IIe)
 著者        Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA
 タイトル      A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
 雑誌        Eur J Hum Genet 15:638-45 (2007)
 DOI:10.1038/sj.ejhg.5201813
 PMID:15576474 (CDG type IIf)
 著者        Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R
 タイトル      Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
 雑誌        Blood 105:2671-6 (2005)
 DOI:10.1182/blood-2004-09-3509
 PMID:16537452 (CDG type IIg)
 著者        Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G
 タイトル      Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
 雑誌        Proc Natl Acad Sci U S A 103:3764-9 (2006)
 DOI:10.1073/pnas.0507685103
 PMID:17331980 (CDG type IIh)
 著者        Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH
 タイトル      COG8 deficiency causes new congenital disorder of glycosylation type IIh.
 雑誌        Hum Mol Genet 16:731-41 (2007)
 DOI:10.1093/hmg/ddm028
 PMID:17220172 (CDG type IIh)
 著者        Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, Garcia-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G
 タイトル      A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
 雑誌        Hum Mol Genet 16:717-30 (2007)
 DOI:10.1093/hmg/ddl476
 PMID:19690088 (CDG type IIi)
 著者        Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T
 タイトル      Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
 雑誌        Hum Mol Genet 18:4350-6 (2009)
 DOI:10.1093/hmg/ddp389
 PMID:19494034 (CDG type IIj)
 著者        Reynders E, Foulquier F, Leao Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G
 タイトル      Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
 雑誌        Hum Mol Genet 18:3244-56 (2009)
 DOI:10.1093/hmg/ddp262
 PMID:22683087 (CDG type IIk)
 著者        Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G
 タイトル      TMEM165 deficiency causes a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 91:15-26 (2012)
 DOI:10.1016/j.ajhg.2012.05.002
 PMID:23430903 (CDG type IIl)
 著者        Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, Sturiale L, Garozzo D, Matthijs G, Ferster A, Jaeken J, Goyens P
 タイトル      Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.
 雑誌        JIMD Rep 4:103-8 (2012)
 DOI:10.1007/8904_2011_79
 PMID:23561849 (CDG type IIm)
 著者        Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH
 タイトル      Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 92:632-6 (2013)
 DOI:10.1016/j.ajhg.2013.03.012
 PMID:26637979 (CDG type IIn)
 著者        Park JH, Hogrebe M, Gruneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hortnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T
 タイトル      SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
 雑誌        Am J Hum Genet 97:894-903 (2015)
 DOI:10.1016/j.ajhg.2015.11.003
 PMID:26833332 (CDG type IIo)
 著者        Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
 タイトル      CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
 雑誌        Am J Hum Genet 98:310-21 (2016)
 DOI:10.1016/j.ajhg.2015.12.010
 PMID:26833330 (CDG type IIp)
 著者        Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ
 タイトル      TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
 雑誌        Am J Hum Genet 98:322-30 (2016)
 DOI:10.1016/j.ajhg.2015.12.011
 PMID:10571011
 著者        Schachter H, Jaeken J
 タイトル      Carbohydrate-deficient glycoprotein syndrome type II.
 雑誌        Biochim Biophys Acta 1455:179-92 (1999)
 DOI:10.1016/S0925-4439(99)00054-X
 PMID:7944531
 著者        Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G
 タイトル      Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
 雑誌        Arch Dis Child 71:123-7 (1994)
 DOI:10.1136/adc.71.2.123
 PMID:11701646 (marker)
 著者        Jaeken J, Matthijs G
 タイトル      Congenital disorders of glycosylation.
 雑誌        Annu Rev Genomics Hum Genet 2:129-51 (2001)
 DOI:10.1146/annurev.genom.2.1.129
 PMID:24784932 (CDG type IIq)
 著者        Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
 タイトル      Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
 雑誌        Clin Genet 87:455-60 (2015)
 DOI:10.1111/cge.12417
 PMID:27508872
 著者        Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noe E, Patel P, Ho SP, Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ
 タイトル      Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
 雑誌        Cell Metab 24:234-45 (2016)
 DOI:10.1016/j.cmet.2016.07.012
 PMID:27231034
 著者        Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ
 タイトル      ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
 雑誌        Nat Commun 7:11600 (2016)
 DOI:10.1038/ncomms11600
 PMID:34143952
 著者        Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM
 タイトル      Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 108:1342-1349 (2021)
 DOI:10.1016/j.ajhg.2021.05.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00119"">H00119</a>",先天性グリコシル化異常症 II 型,"Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing of N-glycans on the glycosylated proteins either late in the endoplasmic reticulum or the Golgi compartments. Multiple subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe psychomotor retardation, no peripheral neuropathy and a cerebellar hypoplasia. According to the serum transferrin glycoform, a portion of CDG-II can be diagnosed. Distinct from CDG-I, the serum trisialo- and asialotransferrin are increased in CDG-II.","<a href=""https://www.kegg.jp/network/nt06015"">nt06015</a>  N-Glycan biosynthesis","(CDG-IIa) MGAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4247"">4247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00736"">K00736</a>]
 (CDG-IIb) GCS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7841"">7841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01228"">K01228</a>]
 (CDG-IIc) SLC35C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55343"">55343</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15279"">K15279</a>]
 (CDG-IId) B4GALT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2683"">2683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07966"">K07966</a>]
 (CDG-IIe) COG7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91949"">91949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20294"">K20294</a>]
 (CDG-IIf) SLC35A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10559"">10559</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15272"">K15272</a>]
 (CDG-IIg) COG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9382"">9382</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20288"">K20288</a>]
 (CDG-IIh) COG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84342"">84342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20295"">K20295</a>]
 (CDG-IIi) COG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10466"">10466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20292"">K20292</a>]
 (CDG-IIj) COG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25839"">25839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20291"">K20291</a>]
 (CDG-IIk) TMEM165 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55858"">55858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23541"">K23541</a>]
 (CDG-IIl) COG6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57511"">57511</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20293"">K20293</a>]
 (CDG-IIm) SLC35A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7355"">7355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15272"">K15272</a>]
 (CDG-IIn) SLC39A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64116"">64116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14714"">K14714</a>]
 (CDG-IIo) CCDC115 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84317"">84317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23543"">K23543</a>]
 (CDG-IIp) TMEM199 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147007"">147007</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23542"">K23542</a>]
 (CDG-IIq) COG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22796"">22796</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20289"">K20289</a>]
 (CDG-IIr) ATP6AP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10159"">10159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19514"">K19514</a>]
 (CDG-IIs) ATP6AP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:537"">537</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03662"">K03662</a>]
 (CDG-IIt) GALNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2590"">2590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00710"">K00710</a>]
 (CDG-IIv) EDEM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80267"">80267</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10086"">K10086</a>]",,,,,,"ICD-11: 5C54.0
 ICD-10: E77.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018981"">D018981</a>
 OMIM: <a href=""https://www.omim.org/entry/212066"">212066</a> <a href=""https://www.omim.org/entry/606056"">606056</a> <a href=""https://www.omim.org/entry/266265"">266265</a> <a href=""https://www.omim.org/entry/607091"">607091</a> <a href=""https://www.omim.org/entry/603585"">603585</a> <a href=""https://www.omim.org/entry/608779"">608779</a> <a href=""https://www.omim.org/entry/611209"">611209</a> <a href=""https://www.omim.org/entry/611182"">611182</a> <a href=""https://www.omim.org/entry/613612"">613612</a> <a href=""https://www.omim.org/entry/613489"">613489</a> <a href=""https://www.omim.org/entry/614727"">614727</a> <a href=""https://www.omim.org/entry/614576"">614576</a> <a href=""https://www.omim.org/entry/300896"">300896</a> <a href=""https://www.omim.org/entry/616721"">616721</a> <a href=""https://www.omim.org/entry/616828"">616828</a> <a href=""https://www.omim.org/entry/616829"">616829</a> <a href=""https://www.omim.org/entry/617395"">617395</a> <a href=""https://www.omim.org/entry/301045"">301045</a> <a href=""https://www.omim.org/entry/300972"">300972</a> <a href=""https://www.omim.org/entry/618885"">618885</a> <a href=""https://www.omim.org/entry/619493"">619493</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11228641"">11228641</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIa)"">IIa)</a>
 著者        Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N
 タイトル      Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
 雑誌        J Med Genet 37:875-7 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.11.875"">10.1136/jmg.37.11.875</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10788335"">10788335</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIb)"">IIb)</a>
 著者        De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN
 タイトル      A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
 雑誌        Am J Hum Genet 66:1744-56 (2000)
 DOI:<a href=""https://doi.org/10.1086/302948"">10.1086/302948</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11326280"">11326280</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIc)"">IIc)</a>
 著者        Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C
 タイトル      Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
 雑誌        Nat Genet 28:73-6 (2001)
 DOI:<a href=""https://doi.org/10.1038/88299"">10.1038/88299</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11901181"">11901181</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IId)"">IId)</a>
 著者        Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C
 タイトル      Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
 雑誌        J Clin Invest 109:725-33 (2002)
 DOI:<a href=""https://doi.org/10.1172/JCI14010"">10.1172/JCI14010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17356545"">17356545</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIe)"">IIe)</a>
 著者        Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA
 タイトル      A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
 雑誌        Eur J Hum Genet 15:638-45 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201813"">10.1038/sj.ejhg.5201813</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15576474"">15576474</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIf)"">IIf)</a>
 著者        Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R
 タイトル      Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
 雑誌        Blood 105:2671-6 (2005)
 DOI:<a href=""https://doi.org/10.1182/blood-2004-09-3509"">10.1182/blood-2004-09-3509</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16537452"">16537452</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIg)"">IIg)</a>
 著者        Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G
 タイトル      Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
 雑誌        Proc Natl Acad Sci U S A 103:3764-9 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0507685103"">10.1073/pnas.0507685103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17331980"">17331980</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIh)"">IIh)</a>
 著者        Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH
 タイトル      COG8 deficiency causes new congenital disorder of glycosylation type IIh.
 雑誌        Hum Mol Genet 16:731-41 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm028"">10.1093/hmg/ddm028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17220172"">17220172</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIh)"">IIh)</a>
 著者        Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, Garcia-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G
 タイトル      A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
 雑誌        Hum Mol Genet 16:717-30 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl476"">10.1093/hmg/ddl476</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19690088"">19690088</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIi)"">IIi)</a>
 著者        Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T
 タイトル      Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
 雑誌        Hum Mol Genet 18:4350-6 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp389"">10.1093/hmg/ddp389</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19494034"">19494034</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIj)"">IIj)</a>
 著者        Reynders E, Foulquier F, Leao Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G
 タイトル      Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
 雑誌        Hum Mol Genet 18:3244-56 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp262"">10.1093/hmg/ddp262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22683087"">22683087</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIk)"">IIk)</a>
 著者        Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G
 タイトル      TMEM165 deficiency causes a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 91:15-26 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.002"">10.1016/j.ajhg.2012.05.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430903"">23430903</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIl)"">IIl)</a>
 著者        Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, Sturiale L, Garozzo D, Matthijs G, Ferster A, Jaeken J, Goyens P
 タイトル      Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.
 雑誌        JIMD Rep 4:103-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/8904_2011_79"">10.1007/8904_2011_79</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23561849"">23561849</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIm)"">IIm)</a>
 著者        Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH
 タイトル      Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 92:632-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.012"">10.1016/j.ajhg.2013.03.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26637979"">26637979</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIn)"">IIn)</a>
 著者        Park JH, Hogrebe M, Gruneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hortnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T
 タイトル      SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
 雑誌        Am J Hum Genet 97:894-903 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.11.003"">10.1016/j.ajhg.2015.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26833332"">26833332</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIo)"">IIo)</a>
 著者        Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
 タイトル      CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
 雑誌        Am J Hum Genet 98:310-21 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.12.010"">10.1016/j.ajhg.2015.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26833330"">26833330</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIp)"">IIp)</a>
 著者        Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ
 タイトル      TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
 雑誌        Am J Hum Genet 98:322-30 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.12.011"">10.1016/j.ajhg.2015.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571011"">10571011</a>
 著者        Schachter H, Jaeken J
 タイトル      Carbohydrate-deficient glycoprotein syndrome type II.
 雑誌        Biochim Biophys Acta 1455:179-92 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00054-X"">10.1016/S0925-4439(99)00054-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7944531"">7944531</a>
 著者        Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G
 タイトル      Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
 雑誌        Arch Dis Child 71:123-7 (1994)
 DOI:<a href=""https://doi.org/10.1136/adc.71.2.123"">10.1136/adc.71.2.123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11701646"">11701646</a> (marker)
 著者        Jaeken J, Matthijs G
 タイトル      Congenital disorders of glycosylation.
 雑誌        Annu Rev Genomics Hum Genet 2:129-51 (2001)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.2.1.129"">10.1146/annurev.genom.2.1.129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24784932"">24784932</a> (CDG <a href=""https://pubmed.ncbi.nlm.nih.gov/type"">type</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IIq)"">IIq)</a>
 著者        Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
 タイトル      Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
 雑誌        Clin Genet 87:455-60 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12417"">10.1111/cge.12417</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27508872"">27508872</a>
 著者        Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noe E, Patel P, Ho SP, Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ
 タイトル      Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
 雑誌        Cell Metab 24:234-45 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.cmet.2016.07.012"">10.1016/j.cmet.2016.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27231034"">27231034</a>
 著者        Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ
 タイトル      ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
 雑誌        Nat Commun 7:11600 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms11600"">10.1038/ncomms11600</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34143952"">34143952</a>
 著者        Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM
 タイトル      Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
 雑誌        Am J Hum Genet 108:1342-1349 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.05.010"">10.1016/j.ajhg.2021.05.010</a>"
H00120,"筋ジストロフィー・ジストログリカノパチー A型
 下位グループ    ウォーカー・ワールブルク症候群 (WWS)
 筋・眼・脳病 (MEB)
 福山型先天性筋ジストロフィー [DS:H01957]
 上位グループ    先天性筋ジストロフィー [DS:H00590]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,"Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities, which in WWS results in early infantile death.",先天性代謝異常症,,"(MDDGA1) POMT1 [HSA:10585] [KO:K00728]
 (MDDGA2) POMT2 [HSA:29954] [KO:K00728]
 (MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
 (MDDGA4) FKTN [HSA:2218] [KO:K19872]
 (MDDGA5) FKRP [HSA:79147] [KO:K19873]
 (MDDGA6) LARGE [HSA:9215] [KO:K09668]
 (MDDGA7) ISPD [HSA:729920] [KO:K21031]
 (MDDGA8) GTDC2 [HSA:84892] [KO:K18207]
 (MDDGA9) DAG1 [HSA:1605] [KO:K06265]
 (MDDGA10) TMEM5 [HSA:10329] [KO:K21052]
 (MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
 (MDDGA12) SGK196 [HSA:84197] [KO:K17547]
 (MDDGA13) B3GNT1 [HSA:11041] [KO:K21032]
 (MDDGA14) GMPPB [HSA:29925] [KO:K00966]",,,,,,"ICD-11: 8C70.6
 ICD-10: Q04.3
 MeSH: D058494
 OMIM: 236670 613150 253280 253800 606612 613154 614643 614830 616538 615041 615181 615249 615287 615350","PMID:25825463
 著者        Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC
 タイトル      Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the  American Association of Neuromuscular &amp; Electrodiagnostic Medicine.
 雑誌        Neurology 84:1369-78 (2015)
 DOI:10.1212/WNL.0000000000001416
 PMID:19019316
 著者        Muntoni F, Torelli S, Brockington M
 タイトル      Muscular dystrophies due to glycosylation defects.
 雑誌        Neurotherapeutics 5:627-32 (2008)
 DOI:10.1016/j.nurt.2008.08.005
 PMID:17030669
 著者        Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C
 タイトル      POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
 雑誌        Arch Neurol 63:1491-5 (2006)
 DOI:10.1001/archneur.63.10.1491
 PMID:15121789
 著者        Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F
 タイトル      Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
 雑誌        J Med Genet 41:e61 (2004)
 DOI:10.1136/jmg.2003.013870
 PMID:15894594
 著者        van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H
 タイトル      POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
 雑誌        J Med Genet 42:907-12 (2005)
 DOI:10.1136/jmg.2005.031963
 PMID:21496624
 著者        Sparks SE, Escolar DM
 タイトル      Congenital muscular dystrophies.
 雑誌        Handb Clin Neurol 101:47-79 (2011)
 DOI:10.1016/B978-0-08-045031-5.00004-9
 PMID:18769252
 著者        Guglieri M, Straub V, Bushby K, Lochmuller H
 タイトル      Limb-girdle muscular dystrophies.
 雑誌        Curr Opin Neurol 21:576-84 (2008)
 DOI:10.1097/WCO.0b013e32830efdc2
 PMID:22958903
 著者        Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA
 タイトル      Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
 雑誌        Am J Hum Genet 91:541-7 (2012)
 DOI:10.1016/j.ajhg.2012.07.009
 PMID:24556084
 著者        von Renesse A, Petkova MV, Lutzkendorf S, Heinemeyer J, Gill E, Hubner C, von Moers A, Stenzel W, Schuelke M
 タイトル      POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
 雑誌        J Med Genet 51:275-82 (2014)
 DOI:10.1136/jmedgenet-2013-102236
 PMID:23359570
 著者        Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H
 タイトル      Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
 雑誌        Hum Mol Genet 22:1746-54 (2013)
 DOI:10.1093/hmg/ddt021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00120"">H00120</a>","筋ジストロフィー・ジストログリカノパチー A型
 下位グループ    ウォーカー・ワールブルク症候群 (WWS)
 筋・眼・脳病 (MEB)
 福山型先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01957"">H01957</a>]
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]","Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities, which in WWS results in early infantile death.",,"(MDDGA1) POMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10585"">10585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGA2) POMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29954"">29954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGA3) POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 (MDDGA4) FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 (MDDGA5) FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]
 (MDDGA6) LARGE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9215"">9215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09668"">K09668</a>]
 (MDDGA7) ISPD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729920"">729920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21031"">K21031</a>]
 (MDDGA8) GTDC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84892"">84892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18207"">K18207</a>]
 (MDDGA9) DAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1605"">1605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06265"">K06265</a>]
 (MDDGA10) TMEM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10329"">10329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21052"">K21052</a>]
 (MDDGA11) B3GALNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:148789"">148789</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09654"">K09654</a>]
 (MDDGA12) SGK196 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84197"">84197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17547"">K17547</a>]
 (MDDGA13) B3GNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11041"">11041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21032"">K21032</a>]
 (MDDGA14) GMPPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29925"">29925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: Q04.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058494"">D058494</a>
 OMIM: <a href=""https://www.omim.org/entry/236670"">236670</a> <a href=""https://www.omim.org/entry/613150"">613150</a> <a href=""https://www.omim.org/entry/253280"">253280</a> <a href=""https://www.omim.org/entry/253800"">253800</a> <a href=""https://www.omim.org/entry/606612"">606612</a> <a href=""https://www.omim.org/entry/613154"">613154</a> <a href=""https://www.omim.org/entry/614643"">614643</a> <a href=""https://www.omim.org/entry/614830"">614830</a> <a href=""https://www.omim.org/entry/616538"">616538</a> <a href=""https://www.omim.org/entry/615041"">615041</a> <a href=""https://www.omim.org/entry/615181"">615181</a> <a href=""https://www.omim.org/entry/615249"">615249</a> <a href=""https://www.omim.org/entry/615287"">615287</a> <a href=""https://www.omim.org/entry/615350"">615350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25825463"">25825463</a>
 著者        Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC
 タイトル      Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the  American Association of Neuromuscular &amp; Electrodiagnostic Medicine.
 雑誌        Neurology 84:1369-78 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001416"">10.1212/WNL.0000000000001416</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19019316"">19019316</a>
 著者        Muntoni F, Torelli S, Brockington M
 タイトル      Muscular dystrophies due to glycosylation defects.
 雑誌        Neurotherapeutics 5:627-32 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.nurt.2008.08.005"">10.1016/j.nurt.2008.08.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17030669"">17030669</a>
 著者        Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C
 タイトル      POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
 雑誌        Arch Neurol 63:1491-5 (2006)
 DOI:<a href=""https://doi.org/10.1001/archneur.63.10.1491"">10.1001/archneur.63.10.1491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15121789"">15121789</a>
 著者        Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F
 タイトル      Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
 雑誌        J Med Genet 41:e61 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.013870"">10.1136/jmg.2003.013870</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15894594"">15894594</a>
 著者        van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H
 タイトル      POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
 雑誌        J Med Genet 42:907-12 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.031963"">10.1136/jmg.2005.031963</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496624"">21496624</a>
 著者        Sparks SE, Escolar DM
 タイトル      Congenital muscular dystrophies.
 雑誌        Handb Clin Neurol 101:47-79 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-08-045031-5.00004-9"">10.1016/B978-0-08-045031-5.00004-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18769252"">18769252</a>
 著者        Guglieri M, Straub V, Bushby K, Lochmuller H
 タイトル      Limb-girdle muscular dystrophies.
 雑誌        Curr Opin Neurol 21:576-84 (2008)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32830efdc2"">10.1097/WCO.0b013e32830efdc2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22958903"">22958903</a>
 著者        Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA
 タイトル      Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
 雑誌        Am J Hum Genet 91:541-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.009"">10.1016/j.ajhg.2012.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24556084"">24556084</a>
 著者        von Renesse A, Petkova MV, Lutzkendorf S, Heinemeyer J, Gill E, Hubner C, von Moers A, Stenzel W, Schuelke M
 タイトル      POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
 雑誌        J Med Genet 51:275-82 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102236"">10.1136/jmedgenet-2013-102236</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23359570"">23359570</a>
 著者        Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H
 タイトル      Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
 雑誌        Hum Mol Genet 22:1746-54 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt021"">10.1093/hmg/ddt021</a>"
H00122,"多発性外骨腫症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:H00493]",,,"Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones.",先天性代謝異常症,,"EXT1; glucuronyl/N-acetylglucosaminyl transferase EXT1 [HSA:2131] [KO:K02366]
 EXT2; glucuronyl/N-acetylglucosaminyl transferase EXT2 [HSA:2132] [KO:K02367]",,,,,,"ICD-11: LD24.20
 ICD-10: Q78.6
 MeSH: D005097
 OMIM: 133700 133701","PMID:18367479
 著者        Nadanaka S, Kitagawa H
 タイトル      Heparan sulphate biosynthesis and disease.
 雑誌        J Biochem 144:7-14 (2008)
 DOI:10.1093/jb/mvn040
 PMID:10679937
 著者        Wuyts W, Van Hul W
 タイトル      Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
 雑誌        Hum Mutat 15:220-7 (2000)
 DOI:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00122"">H00122</a>","多発性外骨腫症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones.",,"EXT1; glucuronyl/N-acetylglucosaminyl transferase EXT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2131"">2131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02366"">K02366</a>]
 EXT2; glucuronyl/N-acetylglucosaminyl transferase EXT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2132"">2132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02367"">K02367</a>]",,,,,,"ICD-11: LD24.20
 ICD-10: Q78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005097"">D005097</a>
 OMIM: <a href=""https://www.omim.org/entry/133700"">133700</a> <a href=""https://www.omim.org/entry/133701"">133701</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18367479"">18367479</a>
 著者        Nadanaka S, Kitagawa H
 タイトル      Heparan sulphate biosynthesis and disease.
 雑誌        J Biochem 144:7-14 (2008)
 DOI:<a href=""https://doi.org/10.1093/jb/mvn040"">10.1093/jb/mvn040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10679937"">10679937</a>
 著者        Wuyts W, Van Hul W
 タイトル      Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
 雑誌        Hum Mutat 15:220-7 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200003)15:"">10.1002/(SICI)1098-1004(200003)15:</a><a href=""https://doi.org/3<220:"">3<220:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-K"">AID-HUMU2>3.0.CO;2-K</a>"
H00123,"ムコ多糖症 IV 型
 下位グループ    モルキオ症候群 A型 (MPS4A)
 モルキオ症候群 B型 (MPS4B)
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,"(MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132]
 (MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]",,,,エロスルファーゼアルファ [DR:D10333],"Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, H00281). The latter disorders show central nervous system involvement.","ICD-11: 5C56.32
 ICD-10: E76.2
 MeSH: D009085
 OMIM: 253000 253010","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:19472408
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:10.1002/humu.21031
 PMID:18202827
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:10.1007/s00018-008-7470-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00123"">H00123</a>","ムコ多糖症 IV 型
 下位グループ    モルキオ症候群 A型 (MPS4A)
 モルキオ症候群 B型 (MPS4B)
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2588"">2588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01132"">K01132</a>]
 (MPS4B) GLB1; beta-galactosidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]",,,,"エロスルファーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10333"">D10333</a>]","Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00281)."">H00281).</a> The latter disorders show central nervous system involvement.","ICD-11: 5C56.32
 ICD-10: E76.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009085"">D009085</a>
 OMIM: <a href=""https://www.omim.org/entry/253000"">253000</a> <a href=""https://www.omim.org/entry/253010"">253010</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19472408"">19472408</a>
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21031"">10.1002/humu.21031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202827"">18202827</a>
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00018-008-7470-2"">10.1007/s00018-008-7470-2</a>"
H00124,"GM2 ガングリオシドーシス
 下位グループ    テイ・サックス病 [DS:H02016]
 サンドホフ病 [DS:H02017]
 上位グループ    ガングリオシドーシス [DS:H00426]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic defect results in the accumulation of GM2 ganglioside in neurons that mainly affects motor and spinocerebellar function. Mutations of the HEXA gene cause deficiency of the beta-hexosaminidase A and result in Tay-Sachs disease. Mutations of the HEXB gene, encoding the beta-subunit, cause deficiency of both enzymes (beta-hexosaminidase A and B), leading to Sandhoff disease. Deficiency of the GM2 activator protein, which mediates the interaction between the water-soluble beta-hexosaminidase A and GM2 ganglioside, causes the AB variant of GM2 gangliosidosis.",先天性代謝異常症; リソソーム蓄積症,,"(Type I) HEXA [HSA:3073] [KO:K12373]
 (Type II) HEXB [HSA:3074] [KO:K12373]
 (AB variant) GM2A [HSA:2760] [KO:K12383]",,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: D020143
 OMIM: 268800 272800 272750","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:15647514
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:10.1093/glycob/cwi041
 PMID:12019216
 著者        Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL
 タイトル      Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
 雑誌        Hum Mol Genet 11:1343-50 (2002)
 DOI:10.1093/hmg/11.11.1343
 PMID:19595619 (therapy)
 著者        Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT
 タイトル      Substrate reduction therapy in juvenile GM2 gangliosidosis.
 雑誌        Mol Genet Metab 98:215-24 (2009)
 DOI:10.1016/j.ymgme.2009.06.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00124"">H00124</a>","GM2 ガングリオシドーシス
 下位グループ    テイ・サックス病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02016"">H02016</a>]
 サンドホフ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02017"">H02017</a>]
 上位グループ    ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic defect results in the accumulation of GM2 ganglioside in neurons that mainly affects motor and spinocerebellar function. Mutations of the HEXA gene cause deficiency of the beta-hexosaminidase A and result in Tay-Sachs disease. Mutations of the HEXB gene, encoding the beta-subunit, cause deficiency of both enzymes (beta-hexosaminidase A and B), leading to Sandhoff disease. Deficiency of the GM2 activator protein, which mediates the interaction between the water-soluble beta-hexosaminidase A and GM2 ganglioside, causes the AB variant of GM2 gangliosidosis.",,"(Type I) HEXA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3073"">3073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]
 (Type II) HEXB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3074"">3074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]
 (AB variant) GM2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2760"">2760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12383"">K12383</a>]",,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020143"">D020143</a>
 OMIM: <a href=""https://www.omim.org/entry/268800"">268800</a> <a href=""https://www.omim.org/entry/272800"">272800</a> <a href=""https://www.omim.org/entry/272750"">272750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15647514"">15647514</a>
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:<a href=""https://doi.org/10.1093/glycob/cwi041"">10.1093/glycob/cwi041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12019216"">12019216</a>
 著者        Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL
 タイトル      Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
 雑誌        Hum Mol Genet 11:1343-50 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.11.1343"">10.1093/hmg/11.11.1343</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19595619"">19595619</a> (therapy)
 著者        Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT
 タイトル      Substrate reduction therapy in juvenile GM2 gangliosidosis.
 雑誌        Mol Genet Metab 98:215-24 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.06.005"">10.1016/j.ymgme.2009.06.005</a>"
H00125,"ファブリー病
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.",先天性代謝異常症,nt06014  Sphingolipid degradation,GLA; alpha-galactosidase [HSA:2717] [KO:K01189],,,,"アガルシダーゼアルファ [DR:D02784]
 アガルシダーゼベータ [DR:D03228]
 ミガーラスタット塩酸塩 [DR:D05031] (GLAバリアント)",,"ICD-11: 5C56.01
 ICD-10: E75.2
 MeSH: D000795
 OMIM: 301500","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:18940466
 著者        Zarate YA, Hopkin RJ
 タイトル      Fabry's disease.
 雑誌        Lancet 372:1427-35 (2008)
 DOI:10.1016/S0140-6736(08)61589-5
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:12633142
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:10.1001/archneur.60.3.322
 PMID:19318041
 著者        Schiffmann R
 タイトル      Fabry disease.
 雑誌        Pharmacol Ther 122:65-77 (2009)
 DOI:10.1016/j.pharmthera.2009.01.003
 PMID:17279083
 著者        Moller AT, Jensen TS
 タイトル      Neurological manifestations in Fabry's disease.
 雑誌        Nat Clin Pract Neurol 3:95-106 (2007)
 DOI:10.1038/ncpneuro0407","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00125"">H00125</a>","ファブリー病
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.","<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","GLA; alpha-galactosidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2717"">2717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01189"">K01189</a>]",,,,"アガルシダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02784"">D02784</a>]
 アガルシダーゼベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03228"">D03228</a>]
 ミガーラスタット塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05031"">D05031</a>] (GLAバリアント)",,"ICD-11: 5C56.01
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000795"">D000795</a>
 OMIM: <a href=""https://www.omim.org/entry/301500"">301500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18940466"">18940466</a>
 著者        Zarate YA, Hopkin RJ
 タイトル      Fabry's disease.
 雑誌        Lancet 372:1427-35 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)61589-5"">10.1016/S0140-6736(08)61589-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12633142"">12633142</a>
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:<a href=""https://doi.org/10.1001/archneur.60.3.322"">10.1001/archneur.60.3.322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19318041"">19318041</a>
 著者        Schiffmann R
 タイトル      Fabry disease.
 雑誌        Pharmacol Ther 122:65-77 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.pharmthera.2009.01.003"">10.1016/j.pharmthera.2009.01.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17279083"">17279083</a>
 著者        Moller AT, Jensen TS
 タイトル      Neurological manifestations in Fabry's disease.
 雑誌        Nat Clin Pract Neurol 3:95-106 (2007)
 DOI:<a href=""https://doi.org/10.1038/ncpneuro0407"">10.1038/ncpneuro0407</a>"
H00126,"ゴーシェ病
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]
 進行性ミオクローヌスてんかん [DS:H00810]",,,"Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.",先天性代謝異常症; リソソーム蓄積症,nt06014  Sphingolipid degradation,"GBA; glucosylceramidase [HSA:2629] [KO:K01201]
 PSAP; prosaposin [HSA:5660] [KO:K12382]",,,,"イミグルセラーゼ [DR:D03020]
 ベラグルセラーゼアルファ [DR:D09029]
 エリグルスタット酒石酸塩 [DR:D09894]","The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: D005776
 OMIM: 230800 230900 231000 231005 608013 610539","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:17644022
 著者        Butters TD
 タイトル      Gaucher disease.
 雑誌        Curr Opin Chem Biol 11:412-8 (2007)
 DOI:10.1016/j.cbpa.2007.05.035
 PMID:15464415
 著者        Sidransky E
 タイトル      Gaucher disease: complexity in a ""simple"" disorder.
 雑誌        Mol Genet Metab 83:6-15 (2004)
 DOI:10.1016/j.ymgme.2004.08.015
 PMID:12633142
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:10.1001/archneur.60.3.322
 PMID:23400823 (mutations)
 著者        Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A
 タイトル      Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
 雑誌        Am J Hematol 88:179-84 (2013)
 DOI:10.1002/ajh.23382","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00126"">H00126</a>","ゴーシェ病
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]","Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.","<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","GBA; glucosylceramidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2629"">2629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01201"">K01201</a>]
 PSAP; prosaposin [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]",,,,"イミグルセラーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03020"">D03020</a>]
 ベラグルセラーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09029"">D09029</a>]
 エリグルスタット酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09894"">D09894</a>]","The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005776"">D005776</a>
 OMIM: <a href=""https://www.omim.org/entry/230800"">230800</a> <a href=""https://www.omim.org/entry/230900"">230900</a> <a href=""https://www.omim.org/entry/231000"">231000</a> <a href=""https://www.omim.org/entry/231005"">231005</a> <a href=""https://www.omim.org/entry/608013"">608013</a> <a href=""https://www.omim.org/entry/610539"">610539</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17644022"">17644022</a>
 著者        Butters TD
 タイトル      Gaucher disease.
 雑誌        Curr Opin Chem Biol 11:412-8 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.cbpa.2007.05.035"">10.1016/j.cbpa.2007.05.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15464415"">15464415</a>
 著者        Sidransky E
 タイトル      Gaucher disease: complexity in a ""simple"" disorder.
 雑誌        Mol Genet Metab 83:6-15 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.08.015"">10.1016/j.ymgme.2004.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12633142"">12633142</a>
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:<a href=""https://doi.org/10.1001/archneur.60.3.322"">10.1001/archneur.60.3.322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23400823"">23400823</a> (mutations)
 著者        Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A
 タイトル      Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
 雑誌        Am J Hematol 88:179-84 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajh.23382"">10.1002/ajh.23382</a>"
H00127,"異染性白質ジストロフィー
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation of sulfatide in the central and peripheral nervous systems and extensive white matter damage and loss of both cognitive and motor functions. Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause MLD variant in which ARSA is normal.,先天性代謝異常症; リソソーム蓄積症,nt06014  Sphingolipid degradation,"ARSA; arylsulfatase A [HSA:410] [KO:K01134]
 PSAP; saposin [HSA:5660] [KO:K12382]",,,,,,"ICD-11: 5C56.02
 ICD-10: E75.2
 MeSH: D007966
 OMIM: 250100 249900","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:18465098
 著者        Eckhardt M
 タイトル      The role and metabolism of sulfatide in the nervous system.
 雑誌        Mol Neurobiol 37:93-103 (2008)
 DOI:10.1007/s12035-008-8022-3
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:17347913
 著者        Sevin C, Aubourg P, Cartier N
 タイトル      Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
 雑誌        J Inherit Metab Dis 30:175-83 (2007)
 DOI:10.1007/s10545-007-0540-z
 PMID:19267410 (MLD variant)
 著者        Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
 タイトル      Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
 雑誌        Am J Med Genet A 149A:613-21 (2009)
 DOI:10.1002/ajmg.a.32712","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00127"">H00127</a>","異染性白質ジストロフィー
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation of sulfatide in the central and peripheral nervous systems and extensive white matter damage and loss of both cognitive and motor functions. Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause MLD variant in which ARSA is normal.,"<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","ARSA; arylsulfatase A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:410"">410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01134"">K01134</a>]
 PSAP; saposin [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]",,,,,,"ICD-11: 5C56.02
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007966"">D007966</a>
 OMIM: <a href=""https://www.omim.org/entry/250100"">250100</a> <a href=""https://www.omim.org/entry/249900"">249900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18465098"">18465098</a>
 著者        Eckhardt M
 タイトル      The role and metabolism of sulfatide in the nervous system.
 雑誌        Mol Neurobiol 37:93-103 (2008)
 DOI:<a href=""https://doi.org/10.1007/s12035-008-8022-3"">10.1007/s12035-008-8022-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17347913"">17347913</a>
 著者        Sevin C, Aubourg P, Cartier N
 タイトル      Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
 雑誌        J Inherit Metab Dis 30:175-83 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0540-z"">10.1007/s10545-007-0540-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19267410"">19267410</a> (MLD <a href=""https://pubmed.ncbi.nlm.nih.gov/variant)"">variant)</a>
 著者        Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
 タイトル      Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
 雑誌        Am J Med Genet A 149A:613-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32712"">10.1002/ajmg.a.32712</a>"
H00128,"ムコ多糖症 I 型;
 ハーラー・シャイエ症候群;
 ハーラー症候群;
 シャイエ症候群
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces, hydrocephalus, dysostosis multiplex, cardiac valve disease, airway obstruction, and mental retardation. Scheie syndrome is a milder form.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,(MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217],,,,ラロニダーゼ [DR:D04670],,"ICD-11: 5C56.30
 ICD-10: E76.0
 MeSH: D008059
 OMIM: 607014 607015 607016","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16124866
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:10.1146/annurev.genom.6.080604.162334
 PMID:18050087
 著者        El Dib RP, Pastores GM
 タイトル      Laronidase for treating mucopolysaccharidosis type I.
 雑誌        Genet Mol Res 6:667-74 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00128"">H00128</a>","ムコ多糖症 I 型;
 ハーラー・シャイエ症候群;
 ハーラー症候群;
 シャイエ症候群
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces, hydrocephalus, dysostosis multiplex, cardiac valve disease, airway obstruction, and mental retardation. Scheie syndrome is a milder form.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS1) IDUA; alpha-L-iduronidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3425"">3425</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01217"">K01217</a>]",,,,"ラロニダーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04670"">D04670</a>]",,"ICD-11: 5C56.30
 ICD-10: E76.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008059"">D008059</a>
 OMIM: <a href=""https://www.omim.org/entry/607014"">607014</a> <a href=""https://www.omim.org/entry/607015"">607015</a> <a href=""https://www.omim.org/entry/607016"">607016</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16124866"">16124866</a>
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.6.080604.162334"">10.1146/annurev.genom.6.080604.162334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18050087"">18050087</a>
 著者        El Dib RP, Pastores GM
 タイトル      Laronidase for treating mucopolysaccharidosis type I.
 雑誌        Genet Mol Res 6:667-74 (2007)"
H00129,"ムコ多糖症 II 型;
 ハンター症候群
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,(MPS2) IDS [HSA:3423] [KO:K01136],,,,"イデュルスルファーゼ [DR:D04499]
 イデュルスルファーゼベータ [DR:D11025]
 パビナフスプアルファ [DR:D11812]
 シクロホスファミド水和物 [DR:D00287]",,"ICD-11: 5C56.31
 ICD-10: E76.1
 MeSH: D016532
 OMIM: 309900","PMID:18618289
 著者        Al Sawaf S, Mayatepek E, Hoffmann B
 タイトル      Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
 雑誌        J Inherit Metab Dis 31:473-80 (2008)
 DOI:10.1007/s10545-008-0878-x
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00129"">H00129</a>","ムコ多糖症 II 型;
 ハンター症候群
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS2) IDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3423"">3423</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01136"">K01136</a>]",,,,"イデュルスルファーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04499"">D04499</a>]
 イデュルスルファーゼベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11025"">D11025</a>]
 パビナフスプアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11812"">D11812</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]",,"ICD-11: 5C56.31
 ICD-10: E76.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016532"">D016532</a>
 OMIM: <a href=""https://www.omim.org/entry/309900"">309900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18618289"">18618289</a>
 著者        Al Sawaf S, Mayatepek E, Hoffmann B
 タイトル      Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
 雑誌        J Inherit Metab Dis 31:473-80 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-008-0878-x"">10.1007/s10545-008-0878-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>"
H00130,"ムコ多糖症 III 型
 下位グループ    サンフィリポ症候群 A 型
 サンフィリポ症候群 B 型
 サンフィリポ症候群 C 型
 サンフィリポ症候群 D 型
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,"(MPS3A) SGSH [HSA:6448] [KO:K01565]
 (MPS3B) NAGLU [HSA:4669] [KO:K01205]
 (MPS3C) HGSNAT [HSA:138050] [KO:K10532]
 (MPS3D) GNS [HSA:2799] [KO:K01137]",,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.2
 MeSH: D009084
 OMIM: 252900 252920 252930 252940","PMID:18392742
 著者        Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
 タイトル      Sanfilippo syndrome: a mini-review.
 雑誌        J Inherit Metab Dis 31:240-52 (2008)
 DOI:10.1007/s10545-008-0838-5
 PMID:16124866
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:10.1146/annurev.genom.6.080604.162334
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00130"">H00130</a>","ムコ多糖症 III 型
 下位グループ    サンフィリポ症候群 A 型
 サンフィリポ症候群 B 型
 サンフィリポ症候群 C 型
 サンフィリポ症候群 D 型
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS3A) SGSH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6448"">6448</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01565"">K01565</a>]
 (MPS3B) NAGLU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4669"">4669</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01205"">K01205</a>]
 (MPS3C) HGSNAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:138050"">138050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10532"">K10532</a>]
 (MPS3D) GNS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2799"">2799</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01137"">K01137</a>]",,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009084"">D009084</a>
 OMIM: <a href=""https://www.omim.org/entry/252900"">252900</a> <a href=""https://www.omim.org/entry/252920"">252920</a> <a href=""https://www.omim.org/entry/252930"">252930</a> <a href=""https://www.omim.org/entry/252940"">252940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18392742"">18392742</a>
 著者        Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
 タイトル      Sanfilippo syndrome: a mini-review.
 雑誌        J Inherit Metab Dis 31:240-52 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-008-0838-5"">10.1007/s10545-008-0838-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16124866"">16124866</a>
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.6.080604.162334"">10.1146/annurev.genom.6.080604.162334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>"
H00131,"ムコ多糖症 VI 型;
 マロトー・ラミー症候群
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,(MPS6) ARSB [HSA:411] [KO:K01135],,,,ガルスルファーゼ [DR:D06565],,"ICD-11: 5C56.33
 ICD-10: E76.2
 MeSH: D009087
 OMIM: 253200","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16124866
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:10.1146/annurev.genom.6.080604.162334
 PMID:20385007
 著者        Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
 タイトル      Mucopolysaccharidosis VI.
 雑誌        Orphanet J Rare Dis 5:5 (2010)
 DOI:10.1186/1750-1172-5-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00131"">H00131</a>","ムコ多糖症 VI 型;
 マロトー・ラミー症候群
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS6) ARSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:411"">411</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01135"">K01135</a>]",,,,"ガルスルファーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06565"">D06565</a>]",,"ICD-11: 5C56.33
 ICD-10: E76.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009087"">D009087</a>
 OMIM: <a href=""https://www.omim.org/entry/253200"">253200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16124866"">16124866</a>
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.6.080604.162334"">10.1146/annurev.genom.6.080604.162334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20385007"">20385007</a>
 著者        Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
 タイトル      Mucopolysaccharidosis VI.
 雑誌        Orphanet J Rare Dis 5:5 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-5"">10.1186/1750-1172-5-5</a>"
H00132,"ムコ多糖症 VII 型;
 スライ症候群
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate occurs in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by mental retardation, coarse faces, dysostosis multiplex, hepatosplenomegaly, and hydrops fetails.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,(MPS7) GUSB [HSA:2990] [KO:K01195],,,,ベストロニダーゼアルファ [DR:D11004],Hematopoietic stem cell transplantation (limited experience),"ICD-11: 5C56.3Y
 ICD-10: E76.2
 MeSH: D016538
 OMIM: 253220","PMID:16601332
 著者        Venkat-Raman N, Sebire NJ, Murphy KW
 タイトル      Recurrent fetal hydrops due to mucopolysaccharidoses type VII.
 雑誌        Fetal Diagn Ther 21:250-4 (2006)
 DOI:10.1159/000091350
 PMID:19224584
 著者        Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS
 タイトル      Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
 雑誌        Hum Mutat 30:511-9 (2009)
 DOI:10.1002/humu.20828
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00132"">H00132</a>","ムコ多糖症 VII 型;
 スライ症候群
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate occurs in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by mental retardation, coarse faces, dysostosis multiplex, hepatosplenomegaly, and hydrops fetails.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS7) GUSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2990"">2990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01195"">K01195</a>]",,,,"ベストロニダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11004"">D11004</a>]",Hematopoietic stem cell transplantation (limited experience),"ICD-11: 5C56.3Y
 ICD-10: E76.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016538"">D016538</a>
 OMIM: <a href=""https://www.omim.org/entry/253220"">253220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16601332"">16601332</a>
 著者        Venkat-Raman N, Sebire NJ, Murphy KW
 タイトル      Recurrent fetal hydrops due to mucopolysaccharidoses type VII.
 雑誌        Fetal Diagn Ther 21:250-4 (2006)
 DOI:<a href=""https://doi.org/10.1159/000091350"">10.1159/000091350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19224584"">19224584</a>
 著者        Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS
 タイトル      Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
 雑誌        Hum Mutat 30:511-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20828"">10.1002/humu.20828</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>"
H00133,"ムコ多糖症 IX 型;
 ヒアルロニダーゼ欠損症
 上位グループ    ムコ多糖症 [DS:H00421]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.,先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,(MPS9) HYAL1 [HSA:3373] [KO:K01197],,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.3
 MeSH: C563209
 OMIM: 601492","PMID:18344557
 著者        Martin DC, Atmuri V, Hemming RJ, Farley J, Mort JS, Byers S, Hombach-Klonisch S, Csoka AB, Stern R, Triggs-Raine BL
 タイトル      A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
 雑誌        Hum Mol Genet 17:1904-15 (2008)
 DOI:10.1093/hmg/ddn088
 PMID:10339581
 著者        Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
 タイトル      Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
 雑誌        Proc Natl Acad Sci U S A 96:6296-300 (1999)
 DOI:10.1073/pnas.96.11.6296","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00133"">H00133</a>","ムコ多糖症 IX 型;
 ヒアルロニダーゼ欠損症
 上位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.,"<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS9) HYAL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3373"">3373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01197"">K01197</a>]",,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563209"">C563209</a>
 OMIM: <a href=""https://www.omim.org/entry/601492"">601492</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18344557"">18344557</a>
 著者        Martin DC, Atmuri V, Hemming RJ, Farley J, Mort JS, Byers S, Hombach-Klonisch S, Csoka AB, Stern R, Triggs-Raine BL
 タイトル      A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
 雑誌        Hum Mol Genet 17:1904-15 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn088"">10.1093/hmg/ddn088</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10339581"">10339581</a>
 著者        Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
 タイトル      Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
 雑誌        Proc Natl Acad Sci U S A 96:6296-300 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.11.6296"">10.1073/pnas.96.11.6296</a>"
H00134,"X連鎖魚鱗癬
 上位グループ    先天性魚鱗癬 [DS:H01771]",,,"X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism.",先天性代謝異常症; 先天奇形,,STS [HSA:412] [KO:K01131],,,,,,"ICD-11: EC20.01
 ICD-10: Q80.1
 MeSH: D016114
 OMIM: 308100","PMID:15561802
 著者        Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV
 タイトル      Steroid sulfatase: molecular biology, regulation, and inhibition.
 雑誌        Endocr Rev 26:171-202 (2005)
 DOI:10.1210/er.2004-0003
 PMID:9252398
 著者        Alperin ES, Shapiro LJ
 タイトル      Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
 雑誌        J Biol Chem 272:20756-63 (1997)
 DOI:10.1074/jbc.272.33.20756
 PMID:18413370
 著者        Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR
 タイトル      X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
 雑誌        J Med Genet 45:519-24 (2008)
 DOI:10.1136/jmg.2008.057729","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00134"">H00134</a>","X連鎖魚鱗癬
 上位グループ    先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>]","X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism.",,"STS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:412"">412</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01131"">K01131</a>]",,,,,,"ICD-11: EC20.01
 ICD-10: Q80.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016114"">D016114</a>
 OMIM: <a href=""https://www.omim.org/entry/308100"">308100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15561802"">15561802</a>
 著者        Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV
 タイトル      Steroid sulfatase: molecular biology, regulation, and inhibition.
 雑誌        Endocr Rev 26:171-202 (2005)
 DOI:<a href=""https://doi.org/10.1210/er.2004-0003"">10.1210/er.2004-0003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9252398"">9252398</a>
 著者        Alperin ES, Shapiro LJ
 タイトル      Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
 雑誌        J Biol Chem 272:20756-63 (1997)
 DOI:<a href=""https://doi.org/10.1074/jbc.272.33.20756"">10.1074/jbc.272.33.20756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18413370"">18413370</a>
 著者        Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR
 タイトル      X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
 雑誌        J Med Genet 45:519-24 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.057729"">10.1136/jmg.2008.057729</a>"
H00135,"クラッベ病;
 グロボイド細胞白質ジストロフィー
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.,先天性代謝異常症; リソソーム蓄積症,nt06014  Sphingolipid degradation,"GALC [HSA:2581] [KO:K01202]
 PSAP [HSA:5660] [KO:K12382]",,,,,,"ICD-11: 8A44.4
 ICD-10: E75.2
 MeSH: D007965
 OMIM: 245200 611722","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:10833326
 著者        Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
 タイトル      Krabbe disease: genetic aspects and progress toward therapy.
 雑誌        Mol Genet Metab 70:1-9 (2000)
 DOI:10.1006/mgme.2000.2990
 PMID:15773042
 著者        Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M
 タイトル      A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
 雑誌        Mol Genet Metab 84:160-6 (2005)
 DOI:10.1016/j.ymgme.2004.10.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00135"">H00135</a>","クラッベ病;
 グロボイド細胞白質ジストロフィー
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.,"<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","GALC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2581"">2581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01202"">K01202</a>]
 PSAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]",,,,,,"ICD-11: 8A44.4
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007965"">D007965</a>
 OMIM: <a href=""https://www.omim.org/entry/245200"">245200</a> <a href=""https://www.omim.org/entry/611722"">611722</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10833326"">10833326</a>
 著者        Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
 タイトル      Krabbe disease: genetic aspects and progress toward therapy.
 雑誌        Mol Genet Metab 70:1-9 (2000)
 DOI:<a href=""https://doi.org/10.1006/mgme.2000.2990"">10.1006/mgme.2000.2990</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15773042"">15773042</a>
 著者        Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M
 タイトル      A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
 雑誌        Mol Genet Metab 84:160-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.10.004"">10.1016/j.ymgme.2004.10.004</a>"
H00136,"ニーマン・ピック病 C 型
 下位グループ    ニーマン・ピック病 C1 型
 ニーマン・ピック病 C2 型
 上位グループ    リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein known to bind cholesterol.",先天代謝異常症; リソソーム蓄積症,,"(NPC1/ D) NPC1 [HSA:4864] [KO:K12385]
 (NPC2) NPC2 [HSA:10577] [KO:K13443]",,,,ミグルスタット [DR:D05032],"Niemann-Pick disease, type D is now thought to be a variant of type C. TypeD has only been found in the French Canadian population of Yarmouth County, Nova Scotia.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: D052556
 OMIM: 257220 607625","PMID:18782459
 著者        Pacheco CD, Lieberman AP
 タイトル      The pathogenesis of Niemann-Pick type C disease: a role for autophagy?
 雑誌        Expert Rev Mol Med 10:e26 (2008)
 DOI:10.1017/S146239940800080X
 PMID:16797010
 著者        Vance JE
 タイトル      Lipid imbalance in the neurological disorder, Niemann-Pick C disease.
 雑誌        FEBS Lett 580:5518-24 (2006)
 DOI:10.1016/j.febslet.2006.06.008
 PMID:15207834
 著者        Ikonen E, Holtta-Vuori M
 タイトル      Cellular pathology of Niemann-Pick type C disease.
 雑誌        Semin Cell Dev Biol 15:445-54 (2004)
 DOI:10.1016/j.semcdb.2004.03.001
 PMID:15465424
 著者        Mukherjee S, Maxfield FR
 タイトル      Lipid and cholesterol trafficking in NPC.
 雑誌        Biochim Biophys Acta 1685:28-37 (2004)
 DOI:10.1016/j.bbalip.2004.08.009
 PMID:15465426
 著者        Walkley SU, Suzuki K
 タイトル      Consequences of NPC1 and NPC2 loss of function in mammalian neurons.
 雑誌        Biochim Biophys Acta 1685:48-62 (2004)
 DOI:10.1016/j.bbalip.2004.08.011
 PMID:17689147 (drug)
 著者        Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE
 タイトル      Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.
 雑誌        Lancet Neurol 6:765-72 (2007)
 DOI:10.1016/S1474-4422(07)70194-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00136"">H00136</a>","ニーマン・ピック病 C 型
 下位グループ    ニーマン・ピック病 C1 型
 ニーマン・ピック病 C2 型
 上位グループ    リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein known to bind cholesterol.",,"(NPC1/ D) NPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4864"">4864</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12385"">K12385</a>]
 (NPC2) NPC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10577"">10577</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13443"">K13443</a>]",,,,"ミグルスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05032"">D05032</a>]","Niemann-Pick disease, type D is now thought to be a variant of type C. TypeD has only been found in the French Canadian population of Yarmouth County, Nova Scotia.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052556"">D052556</a>
 OMIM: <a href=""https://www.omim.org/entry/257220"">257220</a> <a href=""https://www.omim.org/entry/607625"">607625</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18782459"">18782459</a>
 著者        Pacheco CD, Lieberman AP
 タイトル      The pathogenesis of Niemann-Pick type C disease: a role for autophagy?
 雑誌        Expert Rev Mol Med 10:e26 (2008)
 DOI:<a href=""https://doi.org/10.1017/S146239940800080X"">10.1017/S146239940800080X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16797010"">16797010</a>
 著者        Vance JE
 タイトル      Lipid imbalance in the neurological disorder, Niemann-Pick C disease.
 雑誌        FEBS Lett 580:5518-24 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2006.06.008"">10.1016/j.febslet.2006.06.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15207834"">15207834</a>
 著者        Ikonen E, Holtta-Vuori M
 タイトル      Cellular pathology of Niemann-Pick type C disease.
 雑誌        Semin Cell Dev Biol 15:445-54 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.semcdb.2004.03.001"">10.1016/j.semcdb.2004.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15465424"">15465424</a>
 著者        Mukherjee S, Maxfield FR
 タイトル      Lipid and cholesterol trafficking in NPC.
 雑誌        Biochim Biophys Acta 1685:28-37 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2004.08.009"">10.1016/j.bbalip.2004.08.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15465426"">15465426</a>
 著者        Walkley SU, Suzuki K
 タイトル      Consequences of NPC1 and NPC2 loss of function in mammalian neurons.
 雑誌        Biochim Biophys Acta 1685:48-62 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2004.08.011"">10.1016/j.bbalip.2004.08.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17689147"">17689147</a> (drug)
 著者        Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE
 タイトル      Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.
 雑誌        Lancet Neurol 6:765-72 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(07)70194-1"">10.1016/S1474-4422(07)70194-1</a>"
H00137,"ニーマン・ピック病 A/B 型
 下位グループ    ニーマン・ピック病 A 型
 ニーマン・ピック病 B 型
 酸性スフィンゴミエリナーゼ欠損症
 上位グループ    スフィンゴミエリン分解異常 [DS:H00424]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.",先天性代謝異常症; リソソーム蓄積症,nt06014  Sphingolipid degradation,SMPD1 [HSA:6609] [KO:K12350],,,,オリプダーゼアルファ [DR:D10820],"Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: D052536 D052537
 OMIM: 257200 607616","PMID:18567738
 著者        Smith EL, Schuchman EH
 タイトル      The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
 雑誌        FASEB J 22:3419-31 (2008)
 DOI:10.1096/fj.08-108043
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:17632693
 著者        Schuchman EH
 タイトル      The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
 雑誌        J Inherit Metab Dis 30:654-63 (2007)
 DOI:10.1007/s10545-007-0632-9
 PMID:10760463
 著者        Ridgway ND
 タイトル      Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin.
 雑誌        Biochim Biophys Acta 1484:129-41 (2000)
 DOI:10.1016/S1388-1981(00)00006-8
 PMID:19944693
 著者        Schuchman EH
 タイトル      Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
 雑誌        FEBS Lett 584:1895-900 (2010)
 DOI:10.1016/j.febslet.2009.11.083","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00137"">H00137</a>","ニーマン・ピック病 A/B 型
 下位グループ    ニーマン・ピック病 A 型
 ニーマン・ピック病 B 型
 酸性スフィンゴミエリナーゼ欠損症
 上位グループ    スフィンゴミエリン分解異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00424"">H00424</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.","<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","SMPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6609"">6609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12350"">K12350</a>]",,,,"オリプダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10820"">D10820</a>]","Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052536"">D052536</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052537"">D052537</a>
 OMIM: <a href=""https://www.omim.org/entry/257200"">257200</a> <a href=""https://www.omim.org/entry/607616"">607616</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18567738"">18567738</a>
 著者        Smith EL, Schuchman EH
 タイトル      The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
 雑誌        FASEB J 22:3419-31 (2008)
 DOI:<a href=""https://doi.org/10.1096/fj.08-108043"">10.1096/fj.08-108043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17632693"">17632693</a>
 著者        Schuchman EH
 タイトル      The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
 雑誌        J Inherit Metab Dis 30:654-63 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0632-9"">10.1007/s10545-007-0632-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10760463"">10760463</a>
 著者        Ridgway ND
 タイトル      Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin.
 雑誌        Biochim Biophys Acta 1484:129-41 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(00)00006-8"">10.1016/S1388-1981(00)00006-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19944693"">19944693</a>
 著者        Schuchman EH
 タイトル      Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
 雑誌        FEBS Lett 584:1895-900 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2009.11.083"">10.1016/j.febslet.2009.11.083</a>"
H00138,"ファーバー脂肪性肉芽腫症;
 ファーバー病
 上位グループ    スフィンゴミエリン分解異常 [DS:H00424]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.,先天性代謝異常症; リソソーム蓄積症,nt06014  Sphingolipid degradation,ASAH1 [HSA:427] [KO:K12348],,,,,,"ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: D055577
 OMIM: 228000","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:17064658
 著者        Park JH, Schuchman EH
 タイトル      Acid ceramidase and human disease.
 雑誌        Biochim Biophys Acta 1758:2133-8 (2006)
 DOI:10.1016/j.bbamem.2006.08.019
 PMID:12633142
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:10.1001/archneur.60.3.322
 PMID:11241842
 著者        Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K
 タイトル      Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
 雑誌        Hum Mutat 17:199-209 (2001)
 DOI:10.1002/humu.5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00138"">H00138</a>","ファーバー脂肪性肉芽腫症;
 ファーバー病
 上位グループ    スフィンゴミエリン分解異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00424"">H00424</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.,"<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","ASAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:427"">427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12348"">K12348</a>]",,,,,,"ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055577"">D055577</a>
 OMIM: <a href=""https://www.omim.org/entry/228000"">228000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17064658"">17064658</a>
 著者        Park JH, Schuchman EH
 タイトル      Acid ceramidase and human disease.
 雑誌        Biochim Biophys Acta 1758:2133-8 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.08.019"">10.1016/j.bbamem.2006.08.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12633142"">12633142</a>
 著者        Wenger DA, Coppola S, Liu SL
 タイトル      Insights into the diagnosis and treatment of lysosomal storage diseases.
 雑誌        Arch Neurol 60:322-8 (2003)
 DOI:<a href=""https://doi.org/10.1001/archneur.60.3.322"">10.1001/archneur.60.3.322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11241842"">11241842</a>
 著者        Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K
 タイトル      Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
 雑誌        Hum Mutat 17:199-209 (2001)
 DOI:<a href=""https://doi.org/10.1002/humu.5"">10.1002/humu.5</a>"
H00139,"α-マンノシドーシス
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and mental retardation (type 2).",先天性代謝異常症; リソソーム蓄積症,,MAN2B1 [HSA:4125] [KO:K12311],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: D008363
 OMIM: 248500","PMID:18651971
 著者        Malm D, Nilssen O
 タイトル      Alpha-mannosidosis.
 雑誌        Orphanet J Rare Dis 3:21 (2008)
 DOI:10.1186/1750-1172-3-21
 PMID:11322479
 著者        Sun H, Wolfe JH
 タイトル      Recent progress in lysosomal alpha-mannosidase and its deficiency.
 雑誌        Exp Mol Med 33:1-7 (2001)
 DOI:10.1038/emm.2001.1
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00139"">H00139</a>","α-マンノシドーシス
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and mental retardation (type 2).",,"MAN2B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4125"">4125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12311"">K12311</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008363"">D008363</a>
 OMIM: <a href=""https://www.omim.org/entry/248500"">248500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18651971"">18651971</a>
 著者        Malm D, Nilssen O
 タイトル      Alpha-mannosidosis.
 雑誌        Orphanet J Rare Dis 3:21 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-21"">10.1186/1750-1172-3-21</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11322479"">11322479</a>
 著者        Sun H, Wolfe JH
 タイトル      Recent progress in lysosomal alpha-mannosidase and its deficiency.
 雑誌        Exp Mol Med 33:1-7 (2001)
 DOI:<a href=""https://doi.org/10.1038/emm.2001.1"">10.1038/emm.2001.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>"
H00140,"β-マンノシドーシス
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.",先天性代謝異常症; リソソーム蓄積症,,MANBA [HSA:4126] [KO:K01192],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: D044905
 OMIM: 248510","PMID:15647514
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:10.1093/glycob/cwi041
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0
 PMID:18980795
 著者        Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T
 タイトル      Beta-mannosidosis: a new cause of spinocerebellar ataxia.
 雑誌        Clin Neurol Neurosurg 111:109-10 (2009)
 DOI:10.1016/j.clineuro.2008.09.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00140"">H00140</a>","β-マンノシドーシス
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.",,"MANBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4126"">4126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01192"">K01192</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D044905"">D044905</a>
 OMIM: <a href=""https://www.omim.org/entry/248510"">248510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15647514"">15647514</a>
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:<a href=""https://doi.org/10.1093/glycob/cwi041"">10.1093/glycob/cwi041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18980795"">18980795</a>
 著者        Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T
 タイトル      Beta-mannosidosis: a new cause of spinocerebellar ataxia.
 雑誌        Clin Neurol Neurosurg 111:109-10 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.clineuro.2008.09.007"">10.1016/j.clineuro.2008.09.007</a>"
H00141,"フコース症
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes.,先天性代謝異常症; リソソーム蓄積症,,FUCA1 [HSA:2517] [KO:K01206],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: D005645
 OMIM: 230000","PMID:15647514
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:10.1093/glycob/cwi041
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0
 PMID:10094192
 著者        Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
 タイトル      Spectrum of mutations in fucosidosis.
 雑誌        Eur J Hum Genet 7:60-7 (1999)
 DOI:10.1038/sj.ejhg.5200272
 PMID:11290499
 著者        Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A
 タイトル      MR brain imaging of fucosidosis type I.
 雑誌        AJNR Am J Neuroradiol 22:777-80 (2001)
 PMID:17767638
 著者        Abdallah C, Hannallah R, McGill W
 タイトル      Anesthesia for fucosidosis.
 雑誌        Paediatr Anaesth 17:994-7 (2007)
 DOI:10.1111/j.1460-9592.2007.02269.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00141"">H00141</a>","フコース症
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes.,,"FUCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2517"">2517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01206"">K01206</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005645"">D005645</a>
 OMIM: <a href=""https://www.omim.org/entry/230000"">230000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15647514"">15647514</a>
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:<a href=""https://doi.org/10.1093/glycob/cwi041"">10.1093/glycob/cwi041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10094192"">10094192</a>
 著者        Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
 タイトル      Spectrum of mutations in fucosidosis.
 雑誌        Eur J Hum Genet 7:60-7 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200272"">10.1038/sj.ejhg.5200272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11290499"">11290499</a>
 著者        Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A
 タイトル      MR brain imaging of fucosidosis type I.
 雑誌        AJNR Am J Neuroradiol 22:777-80 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17767638"">17767638</a>
 著者        Abdallah C, Hannallah R, McGill W
 タイトル      Anesthesia for fucosidosis.
 雑誌        Paediatr Anaesth 17:994-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9592.2007.02269.x"">10.1111/j.1460-9592.2007.02269.x</a>"
H00142,"シアリドーシス;
 ムコリピドーシス 1 型
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]
 進行性ミオクローヌスてんかん [DS:H00810]",,,Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the mild form with late-onset and type 2 for the severe form with infantile onset.,先天性代謝異常症; リソソーム蓄積症,,NEU1 [HSA:4758] [KO:K01186],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: D009081
 OMIM: 256550","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:14517945
 著者        Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV
 タイトル      Molecular pathology of NEU1 gene in sialidosis.
 雑誌        Hum Mutat 22:343-52 (2003)
 DOI:10.1002/humu.10268
 PMID:8985184
 著者        Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A
 タイトル      Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
 雑誌        Genes Dev 10:3156-69 (1996)
 DOI:10.1101/gad.10.24.3156
 PMID:16712870
 著者        Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS
 タイトル      First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
 雑誌        J Neurol Sci 247:65-9 (2006)
 DOI:10.1016/j.jns.2006.03.013
 PMID:19568825
 著者        Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A
 タイトル      Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
 雑誌        J Neurol 256:1911-5 (2009)
 DOI:10.1007/s00415-009-5213-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00142"">H00142</a>","シアリドーシス;
 ムコリピドーシス 1 型
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]",Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the mild form with late-onset and type 2 for the severe form with infantile onset.,,"NEU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4758"">4758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01186"">K01186</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009081"">D009081</a>
 OMIM: <a href=""https://www.omim.org/entry/256550"">256550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14517945"">14517945</a>
 著者        Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV
 タイトル      Molecular pathology of NEU1 gene in sialidosis.
 雑誌        Hum Mutat 22:343-52 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10268"">10.1002/humu.10268</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8985184"">8985184</a>
 著者        Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A
 タイトル      Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
 雑誌        Genes Dev 10:3156-69 (1996)
 DOI:<a href=""https://doi.org/10.1101/gad.10.24.3156"">10.1101/gad.10.24.3156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16712870"">16712870</a>
 著者        Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS
 タイトル      First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
 雑誌        J Neurol Sci 247:65-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2006.03.013"">10.1016/j.jns.2006.03.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19568825"">19568825</a>
 著者        Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A
 タイトル      Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
 雑誌        J Neurol 256:1911-5 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00415-009-5213-4"">10.1007/s00415-009-5213-4</a>"
H00143,"ムコリピドーシス II 型;
 I 細胞病
 上位グループ    リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucolipidosis type II, also known as I-cell disease, autosomal recessive lysosomal storage disorders caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes.",先天性代謝異常症; リソソーム蓄積症,,GNPTAB [HSA:79158] [KO:K08239],,,,,,"ICD-11: 5C56.20
 ICD-10: E77.0
 MeSH: D009081
 OMIM: 252500","PMID:16465621
 著者        Kudo M, Brem MS, Canfield WM
 タイトル      Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
 雑誌        Am J Hum Genet 78:451-63 (2006)
 DOI:10.1086/500849
 PMID:16630736
 著者        Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A
 タイトル      When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
 雑誌        Mol Genet Metab 88:359-63 (2006)
 DOI:10.1016/j.ymgme.2006.03.003
 PMID:19124046
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:10.1016/j.bbamcr.2008.11.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00143"">H00143</a>","ムコリピドーシス II 型;
 I 細胞病
 上位グループ    リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucolipidosis type II, also known as I-cell disease, autosomal recessive lysosomal storage disorders caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes.",,"GNPTAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79158"">79158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08239"">K08239</a>]",,,,,,"ICD-11: 5C56.20
 ICD-10: E77.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009081"">D009081</a>
 OMIM: <a href=""https://www.omim.org/entry/252500"">252500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16465621"">16465621</a>
 著者        Kudo M, Brem MS, Canfield WM
 タイトル      Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
 雑誌        Am J Hum Genet 78:451-63 (2006)
 DOI:<a href=""https://doi.org/10.1086/500849"">10.1086/500849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16630736"">16630736</a>
 著者        Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A
 タイトル      When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
 雑誌        Mol Genet Metab 88:359-63 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.03.003"">10.1016/j.ymgme.2006.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19124046"">19124046</a>
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2008.11.015"">10.1016/j.bbamcr.2008.11.015</a>"
H00144,"ムコリピドーシス IV 型
 上位グループ    リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucolipidosis IV (ML IV) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ion channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes with lysosomes.",先天性代謝異常症; リソソーム蓄積症,,MCOLN1 [HSA:57192] [KO:K04992],,,,,,"ICD-11: 5C56.20
 ICD-10: E75.1
 MeSH: D009081
 OMIM: 252650","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:15570434
 著者        Bach G
 タイトル      Mucolipin 1: endocytosis and cation channel--a review.
 雑誌        Pflugers Arch 451:313-7 (2005)
 DOI:10.1007/s00424-004-1361-7
 PMID:11461186
 著者        Bach G
 タイトル      Mucolipidosis type IV.
 雑誌        Mol Genet Metab 73:197-203 (2001)
 DOI:10.1006/mgme.2001.3195
 PMID:10973263
 著者        Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G
 タイトル      Identification of the gene causing mucolipidosis type IV.
 雑誌        Nat Genet 26:118-23 (2000)
 DOI:10.1038/79095","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00144"">H00144</a>","ムコリピドーシス IV 型
 上位グループ    リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucolipidosis IV (ML IV) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ion channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes with lysosomes.",,"MCOLN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57192"">57192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04992"">K04992</a>]",,,,,,"ICD-11: 5C56.20
 ICD-10: E75.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009081"">D009081</a>
 OMIM: <a href=""https://www.omim.org/entry/252650"">252650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15570434"">15570434</a>
 著者        Bach G
 タイトル      Mucolipin 1: endocytosis and cation channel--a review.
 雑誌        Pflugers Arch 451:313-7 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00424-004-1361-7"">10.1007/s00424-004-1361-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11461186"">11461186</a>
 著者        Bach G
 タイトル      Mucolipidosis type IV.
 雑誌        Mol Genet Metab 73:197-203 (2001)
 DOI:<a href=""https://doi.org/10.1006/mgme.2001.3195"">10.1006/mgme.2001.3195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973263"">10973263</a>
 著者        Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G
 タイトル      Identification of the gene causing mucolipidosis type IV.
 雑誌        Nat Genet 26:118-23 (2000)
 DOI:<a href=""https://doi.org/10.1038/79095"">10.1038/79095</a>"
H00145,"アスパルチルグルコサミン尿症
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria are progressive mental retardation, coarce faces, behavioral, and hepatosplenomegaly.",先天性代謝異常症; リソソーム蓄積症,,AGA [HSA:175] [KO:K01444],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: D054880
 OMIM: 208400","PMID:10571008
 著者        Aronson NN Jr
 タイトル      Aspartylglycosaminuria: biochemistry and molecular biology.
 雑誌        Biochim Biophys Acta 1455:139-54 (1999)
 DOI:10.1016/S0925-4439(99)00076-9
 PMID:16944277
 著者        Lindblom N, Kivinen S, Heiskala H, Laakso ML, Kaski M
 タイトル      Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
 雑誌        J Inherit Metab Dis 29:637-46 (2006)
 DOI:10.1007/s10545-006-0390-0
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0
 PMID:8405810
 著者        Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr
 タイトル      Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
 雑誌        FASEB J 7:1247-56 (1993)
 DOI:10.1096/fasebj.7.13.8405810
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00145"">H00145</a>","アスパルチルグルコサミン尿症
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria are progressive mental retardation, coarce faces, behavioral, and hepatosplenomegaly.",,"AGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:175"">175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01444"">K01444</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054880"">D054880</a>
 OMIM: <a href=""https://www.omim.org/entry/208400"">208400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571008"">10571008</a>
 著者        Aronson NN Jr
 タイトル      Aspartylglycosaminuria: biochemistry and molecular biology.
 雑誌        Biochim Biophys Acta 1455:139-54 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00076-9"">10.1016/S0925-4439(99)00076-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16944277"">16944277</a>
 著者        Lindblom N, Kivinen S, Heiskala H, Laakso ML, Kaski M
 タイトル      Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
 雑誌        J Inherit Metab Dis 29:637-46 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10545-006-0390-0"">10.1007/s10545-006-0390-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8405810"">8405810</a>
 著者        Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr
 タイトル      Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
 雑誌        FASEB J 7:1247-56 (1993)
 DOI:<a href=""https://doi.org/10.1096/fasebj.7.13.8405810"">10.1096/fasebj.7.13.8405810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>"
H00146,"α-N-アセチルガラクトサミニダーゼ欠損症
 下位グループ    シンドラー病
 神崎病
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency is divided into three types. Type 1 is Schindler disease, characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations.",先天性代謝異常症; リソソーム蓄積症,,NAGA [HSA:4668] [KO:K01204],,,,,,"ICD-11: 5C56.21
 ICD-10: E77.9
 MeSH: C536631
 OMIM: 609241 609242","PMID:14685826
 著者        Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T
 タイトル      Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
 雑誌        J Hum Genet 49:1-8 (2004)
 DOI:10.1007/s10038-003-0098-z
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0
 PMID:19683538
 著者        Clark NE, Garman SC
 タイトル      The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
 雑誌        J Mol Biol 393:435-47 (2009)
 DOI:10.1016/j.jmb.2009.08.021
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:8782044
 著者        Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP
 タイトル      Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
 雑誌        J Med Genet 33:458-64 (1996)
 DOI:10.1136/jmg.33.6.458","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00146"">H00146</a>","α-N-アセチルガラクトサミニダーゼ欠損症
 下位グループ    シンドラー病
 神崎病
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency is divided into three types. Type 1 is Schindler disease, characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations.",,"NAGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4668"">4668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01204"">K01204</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E77.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536631"">C536631</a>
 OMIM: <a href=""https://www.omim.org/entry/609241"">609241</a> <a href=""https://www.omim.org/entry/609242"">609242</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14685826"">14685826</a>
 著者        Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T
 タイトル      Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
 雑誌        J Hum Genet 49:1-8 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0098-z"">10.1007/s10038-003-0098-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19683538"">19683538</a>
 著者        Clark NE, Garman SC
 タイトル      The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
 雑誌        J Mol Biol 393:435-47 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jmb.2009.08.021"">10.1016/j.jmb.2009.08.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8782044"">8782044</a>
 著者        Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP
 タイトル      Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
 雑誌        J Med Genet 33:458-64 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.6.458"">10.1136/jmg.33.6.458</a>"
H00147,"シアル酸尿症
 下位グループ    乳児性シアル酸蓄積症
 シアル酸尿症フィンランド型/ サラ病
 シアル酸尿症フランス型
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Salla disease (SD) and infantile sialic acid storage disorder (ISSD) is a rare autosomal recessive lysosomal storage disease caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports free sialic acid from lysosomes and deficient of sialin results in excessive lysosomal storage of free sialic acid. ISSD has a severe phenotype with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid.",先天性代謝異常症; リソソーム蓄積症,,"(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
 (French type) GNE [HSA:10020] [KO:K12409]",,,,,,"ICD-11: 5C56.4
 ICD-10: E88.8
 MeSH: D029461
 OMIM: 269920 604369 269921","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:10863944
 著者        Mancini GM, Havelaar AC, Verheijen FW
 タイトル      Lysosomal transport disorders.
 雑誌        J Inherit Metab Dis 23:278-92 (2000)
 DOI:10.1023/A:1005640214408
 PMID:12885332
 著者        Strehle EM
 タイトル      Sialic acid storage disease and related disorders.
 雑誌        Genet Test 7:113-21 (2003)
 DOI:10.1089/109065703322146795
 PMID:15172001
 著者        Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA
 タイトル      Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
 雑誌        Mol Genet Metab 82:137-43 (2004)
 DOI:10.1016/j.ymgme.2004.03.001
 PMID:17706199 (French type)
 著者        Bork K, Reutter W, Weidemann W, Horstkorte R
 タイトル      Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells.
 雑誌        FEBS Lett 581:4195-8 (2007)
 DOI:10.1016/j.febslet.2007.07.060","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00147"">H00147</a>","シアル酸尿症
 下位グループ    乳児性シアル酸蓄積症
 シアル酸尿症フィンランド型/ サラ病
 シアル酸尿症フランス型
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Salla disease (SD) and infantile sialic acid storage disorder (ISSD) is a rare autosomal recessive lysosomal storage disease caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports free sialic acid from lysosomes and deficient of sialin results in excessive lysosomal storage of free sialic acid. ISSD has a severe phenotype with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid.",,"(SD, ISSD) SLC17A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26503"">26503</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12301"">K12301</a>]
 (French type) GNE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10020"">10020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12409"">K12409</a>]",,,,,,"ICD-11: 5C56.4
 ICD-10: E88.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029461"">D029461</a>
 OMIM: <a href=""https://www.omim.org/entry/269920"">269920</a> <a href=""https://www.omim.org/entry/604369"">604369</a> <a href=""https://www.omim.org/entry/269921"">269921</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10863944"">10863944</a>
 著者        Mancini GM, Havelaar AC, Verheijen FW
 タイトル      Lysosomal transport disorders.
 雑誌        J Inherit Metab Dis 23:278-92 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005640214408"">1005640214408</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12885332"">12885332</a>
 著者        Strehle EM
 タイトル      Sialic acid storage disease and related disorders.
 雑誌        Genet Test 7:113-21 (2003)
 DOI:<a href=""https://doi.org/10.1089/109065703322146795"">10.1089/109065703322146795</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15172001"">15172001</a>
 著者        Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA
 タイトル      Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
 雑誌        Mol Genet Metab 82:137-43 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.03.001"">10.1016/j.ymgme.2004.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17706199"">17706199</a> (French <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Bork K, Reutter W, Weidemann W, Horstkorte R
 タイトル      Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells.
 雑誌        FEBS Lett 581:4195-8 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2007.07.060"">10.1016/j.febslet.2007.07.060</a>"
H00148,"リソソーム酸性リパーゼ欠損症
 下位グループ    ウォールマン病
 コレステロールエステル蓄積症 (CESD)
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Lysosomal acid lipase (LAL) deficiency is autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency.",先天性代謝異常症; リソソーム蓄積症,,LIPA [HSA:3988] [KO:K01052],,,,セベリパーゼアルファ [DR:D10377],,"ICD-11: 5C56.0Y
 ICD-10: E75.5
 MeSH: D015223
 OMIM: 278000","PMID:9705237
 著者        Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA
 タイトル      Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
 雑誌        Mol Genet Metab 64:126-34 (1998)
 DOI:10.1006/mgme.1998.2707
 PMID:9367797
 著者        Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T
 タイトル      Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
 雑誌        Biochem Mol Med 62:42-9 (1997)
 DOI:10.1006/bmme.1997.2626
 PMID:18776925 (treatment)
 著者        Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ
 タイトル      Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.
 雑誌        Bone Marrow Transplant 43:21-7 (2009)
 DOI:10.1038/bmt.2008.273
 PMID:11347090 (Japanese)
 著者        Tanaka A
 タイトル      [Wolman disease and cholesteryl ester storage disease]
 雑誌        Nippon Rinsho 59 Suppl 3:337-40 (2001)
 PMID:26352813 (drug)
 著者        Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG
 タイトル      A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
 雑誌        N Engl J Med 373:1010-20 (2015)
 DOI:10.1056/NEJMoa1501365","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00148"">H00148</a>","リソソーム酸性リパーゼ欠損症
 下位グループ    ウォールマン病
 コレステロールエステル蓄積症 (CESD)
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Lysosomal acid lipase (LAL) deficiency is autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency.",,"LIPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3988"">3988</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01052"">K01052</a>]",,,,"セベリパーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10377"">D10377</a>]",,"ICD-11: 5C56.0Y
 ICD-10: E75.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015223"">D015223</a>
 OMIM: <a href=""https://www.omim.org/entry/278000"">278000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9705237"">9705237</a>
 著者        Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA
 タイトル      Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
 雑誌        Mol Genet Metab 64:126-34 (1998)
 DOI:<a href=""https://doi.org/10.1006/mgme.1998.2707"">10.1006/mgme.1998.2707</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9367797"">9367797</a>
 著者        Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T
 タイトル      Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
 雑誌        Biochem Mol Med 62:42-9 (1997)
 DOI:<a href=""https://doi.org/10.1006/bmme.1997.2626"">10.1006/bmme.1997.2626</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18776925"">18776925</a> (treatment)
 著者        Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ
 タイトル      Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.
 雑誌        Bone Marrow Transplant 43:21-7 (2009)
 DOI:<a href=""https://doi.org/10.1038/bmt.2008.273"">10.1038/bmt.2008.273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11347090"">11347090</a> (Japanese)
 著者        Tanaka A
 タイトル      [Wolman disease and cholesteryl ester storage disease]
 雑誌        Nippon Rinsho 59 Suppl 3:337-40 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26352813"">26352813</a> (drug)
 著者        Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG
 タイトル      A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
 雑誌        N Engl J Med 373:1010-20 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1501365"">10.1056/NEJMoa1501365</a>"
H00149,"神経セロイドリポフスチン症
 下位グループ    Santavuori-Haltia 病 [DS:H02277]
 Jansky-Bielschowsky 病 [DS:H02278]
 バッテン病 [DS:H02275]
 Kufs 病 [DS:H02276]
 カテプシンD 欠損 [DS:H02279]
 上位グループ    進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital NCL, infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). The presently used nomenclature is based on the genetic findings and divides the NCLs into thirteen forms, CLN1-CLN13.",先天性代謝異常症,,"(CLN1) PPT1 [HSA:5538] [KO:K01074]
 (CLN2) TPP1 [HSA:1200] [KO:K01279]
 (CLN3) CLN3 [HSA:1201] [KO:K12389]
 (CLN4A/6) CLN6 [HSA:54982] [KO:K12359]
 (CLN4B) DNAJC5 [HSA:80331] [KO:K09525]
 (CLN5) CLN5 [HSA:1203] [KO:K12390]
 (CLN7) MSFD8 [HSA:256471] [KO:K12307]
 (CLN8) CLN8 [HSA:2055] [KO:K12360]
 (CLN10) CTSD [HSA:1509] [KO:K01379]
 (CLN11) GRN [HSA:2896] [KO:K23879]
 (CLN12) ATP13A2 [HSA:23400] [KO:K13526]
 (CLN13) CTSF [HSA:8722] [KO:K01373]
 (CLN14) KCTD7 [HSA:154881] [KO:K21917]",,,,セルリポナーゼアルファ [DR:D10813],,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: D009472
 OMIM: 256730 204500 204200 204300 256731 601780 610951 600143 610003 609055 610127 162350 614706 606693 615362 611726","PMID:15965709
 著者        Mole SE, Williams RE, Goebel HH
 タイトル      Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
 雑誌        Neurogenetics 6:107-26 (2005)
 DOI:10.1007/s10048-005-0218-3
 PMID:11548735
 著者        Wisniewski KE, Zhong N, Philippart M
 タイトル      Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
 雑誌        Neurology 57:576-81 (2001)
 DOI:10.1212/WNL.57.4.576
 PMID:19195801
 著者        Kohlschutter A, Schulz A
 タイトル      Towards understanding the neuronal ceroid lipofuscinoses.
 雑誌        Brain Dev 31:499-502 (2009)
 DOI:10.1016/j.braindev.2008.12.008
 PMID:7637805 (PPT1)
 著者        Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L
 タイトル      Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
 雑誌        Nature 376:584-7 (1995)
 DOI:10.1038/376584a0
 PMID:9295267 (TPP1)
 著者        Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P
 タイトル      Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
 雑誌        Science 277:1802-5 (1997)
 DOI:10.1126/science.277.5333.1802
 PMID:7553855 (CLN3)
 タイトル      Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
 雑誌        Cell 82:949-57 (1995)
 DOI:10.1016/0092-8674(95)90274-0
 PMID:11791207 (CLN6)
 著者        Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME
 タイトル      Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
 雑誌        Am J Hum Genet 70:324-35 (2002)
 DOI:10.1086/338190
 PMID:22073189 (DNAJC5)
 著者        Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C
 タイトル      Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
 雑誌        PLoS One 6:e26741 (2011)
 DOI:10.1371/journal.pone.0026741
 PMID:9662406 (CLN5)
 著者        Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L
 タイトル      CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
 雑誌        Nat Genet 19:286-8 (1998)
 DOI:10.1038/975
 PMID:17564970 (MSFD8)
 著者        Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE
 タイトル      The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
 雑誌        Am J Hum Genet 81:136-46 (2007)
 DOI:10.1086/518902
 PMID:10508524 (CLN8)
 著者        Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE
 タイトル      The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
 雑誌        Nat Genet 23:233-6 (1999)
 DOI:10.1038/13868
 PMID:16685649 (CTSD)
 著者        Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J
 タイトル      Cathepsin D deficiency is associated with a human neurodegenerative disorder.
 雑誌        Am J Hum Genet 78:988-98 (2006)
 DOI:10.1086/504159
 PMID:22608501 (GRN)
 著者        Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF
 タイトル      Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
 雑誌        Am J Hum Genet 90:1102-7 (2012)
 DOI:10.1016/j.ajhg.2012.04.021
 PMID:22388936 (ATP13A2)
 著者        Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ
 タイトル      Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
 雑誌        Hum Mol Genet 21:2646-50 (2012)
 DOI:10.1093/hmg/dds089
 PMID:23297359 (CTSF)
 著者        Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M
 タイトル      Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Hum Mol Genet 22:1417-23 (2013)
 DOI:10.1093/hmg/dds558
 PMID:22748208 (KCTD7)
 著者        Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL
 タイトル      A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
 雑誌        Am J Hum Genet 91:202-8 (2012)
 DOI:10.1016/j.ajhg.2012.05.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>","神経セロイドリポフスチン症
 下位グループ    Santavuori-Haltia 病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02277"">H02277</a>]
 Jansky-Bielschowsky 病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02278"">H02278</a>]
 バッテン病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02275"">H02275</a>]
 Kufs 病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02276"">H02276</a>]
 カテプシンD 欠損 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02279"">H02279</a>]
 上位グループ    進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital NCL, infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). The presently used nomenclature is based on the genetic findings and divides the NCLs into thirteen forms, CLN1-CLN13.",,"(CLN1) PPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5538"">5538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01074"">K01074</a>]
 (CLN2) TPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1200"">1200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01279"">K01279</a>]
 (CLN3) CLN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1201"">1201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12389"">K12389</a>]
 (CLN4A/6) CLN6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54982"">54982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12359"">K12359</a>]
 (CLN4B) DNAJC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80331"">80331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09525"">K09525</a>]
 (CLN5) CLN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1203"">1203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12390"">K12390</a>]
 (CLN7) MSFD8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:256471"">256471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12307"">K12307</a>]
 (CLN8) CLN8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2055"">2055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12360"">K12360</a>]
 (CLN10) CTSD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1509"">1509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01379"">K01379</a>]
 (CLN11) GRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2896"">2896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23879"">K23879</a>]
 (CLN12) ATP13A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23400"">23400</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13526"">K13526</a>]
 (CLN13) CTSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8722"">8722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01373"">K01373</a>]
 (CLN14) KCTD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154881"">154881</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21917"">K21917</a>]",,,,"セルリポナーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10813"">D10813</a>]",,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009472"">D009472</a>
 OMIM: <a href=""https://www.omim.org/entry/256730"">256730</a> <a href=""https://www.omim.org/entry/204500"">204500</a> <a href=""https://www.omim.org/entry/204200"">204200</a> <a href=""https://www.omim.org/entry/204300"">204300</a> <a href=""https://www.omim.org/entry/256731"">256731</a> <a href=""https://www.omim.org/entry/601780"">601780</a> <a href=""https://www.omim.org/entry/610951"">610951</a> <a href=""https://www.omim.org/entry/600143"">600143</a> <a href=""https://www.omim.org/entry/610003"">610003</a> <a href=""https://www.omim.org/entry/609055"">609055</a> <a href=""https://www.omim.org/entry/610127"">610127</a> <a href=""https://www.omim.org/entry/162350"">162350</a> <a href=""https://www.omim.org/entry/614706"">614706</a> <a href=""https://www.omim.org/entry/606693"">606693</a> <a href=""https://www.omim.org/entry/615362"">615362</a> <a href=""https://www.omim.org/entry/611726"">611726</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15965709"">15965709</a>
 著者        Mole SE, Williams RE, Goebel HH
 タイトル      Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
 雑誌        Neurogenetics 6:107-26 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10048-005-0218-3"">10.1007/s10048-005-0218-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11548735"">11548735</a>
 著者        Wisniewski KE, Zhong N, Philippart M
 タイトル      Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
 雑誌        Neurology 57:576-81 (2001)
 DOI:<a href=""https://doi.org/10.1212/WNL.57.4.576"">10.1212/WNL.57.4.576</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19195801"">19195801</a>
 著者        Kohlschutter A, Schulz A
 タイトル      Towards understanding the neuronal ceroid lipofuscinoses.
 雑誌        Brain Dev 31:499-502 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.12.008"">10.1016/j.braindev.2008.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7637805"">7637805</a> (PPT1)
 著者        Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L
 タイトル      Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
 雑誌        Nature 376:584-7 (1995)
 DOI:<a href=""https://doi.org/10.1038/376584a0"">10.1038/376584a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9295267"">9295267</a> (TPP1)
 著者        Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P
 タイトル      Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
 雑誌        Science 277:1802-5 (1997)
 DOI:<a href=""https://doi.org/10.1126/science.277.5333.1802"">10.1126/science.277.5333.1802</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7553855"">7553855</a> (CLN3)
 タイトル      Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
 雑誌        Cell 82:949-57 (1995)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(95)90274-0"">10.1016/0092-8674(95)90274-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11791207"">11791207</a> (CLN6)
 著者        Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME
 タイトル      Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
 雑誌        Am J Hum Genet 70:324-35 (2002)
 DOI:<a href=""https://doi.org/10.1086/338190"">10.1086/338190</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22073189"">22073189</a> (DNAJC5)
 著者        Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C
 タイトル      Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
 雑誌        PLoS One 6:e26741 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0026741"">10.1371/journal.pone.0026741</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9662406"">9662406</a> (CLN5)
 著者        Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L
 タイトル      CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
 雑誌        Nat Genet 19:286-8 (1998)
 DOI:<a href=""https://doi.org/10.1038/975"">10.1038/975</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17564970"">17564970</a> (MSFD8)
 著者        Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE
 タイトル      The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
 雑誌        Am J Hum Genet 81:136-46 (2007)
 DOI:<a href=""https://doi.org/10.1086/518902"">10.1086/518902</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10508524"">10508524</a> (CLN8)
 著者        Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE
 タイトル      The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
 雑誌        Nat Genet 23:233-6 (1999)
 DOI:<a href=""https://doi.org/10.1038/13868"">10.1038/13868</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16685649"">16685649</a> (CTSD)
 著者        Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J
 タイトル      Cathepsin D deficiency is associated with a human neurodegenerative disorder.
 雑誌        Am J Hum Genet 78:988-98 (2006)
 DOI:<a href=""https://doi.org/10.1086/504159"">10.1086/504159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22608501"">22608501</a> (GRN)
 著者        Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF
 タイトル      Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
 雑誌        Am J Hum Genet 90:1102-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.04.021"">10.1016/j.ajhg.2012.04.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22388936"">22388936</a> (ATP13A2)
 著者        Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ
 タイトル      Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
 雑誌        Hum Mol Genet 21:2646-50 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds089"">10.1093/hmg/dds089</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23297359"">23297359</a> (CTSF)
 著者        Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M
 タイトル      Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Hum Mol Genet 22:1417-23 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds558"">10.1093/hmg/dds558</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22748208"">22748208</a> (KCTD7)
 著者        Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL
 タイトル      A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
 雑誌        Am J Hum Genet 91:202-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.023"">10.1016/j.ajhg.2012.05.023</a>"
H00150,"ダノン病
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Danon disease is an X-linked disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). However, at present, it is considered that Danon disease is not a glycogen storage disease because the disease is caused by the primary deficiency of a lysosomal membrane protein instead of a glycolytic enzyme and detailed pathological features are different from those of Pompe disease.",先天性代謝異常症; リソソーム蓄積症,,LAMP2 [HSA:3920] [KO:K06528],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D052120
 OMIM: 300257","PMID:17027858
 著者        Nishino I
 タイトル      Autophagic vacuolar myopathy.
 雑誌        Semin Pediatr Neurol 13:90-5 (2006)
 DOI:10.1016/j.spen.2006.06.004
 PMID:18377432
 著者        Yang Z, Vatta M
 タイトル      Danon disease as a cause of autophagic vacuolar myopathy.
 雑誌        Congenit Heart Dis 2:404-9 (2007)
 DOI:10.1111/j.1747-0803.2007.00132.x
 PMID:15673802
 著者        Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG
 タイトル      Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
 雑誌        N Engl J Med 352:362-72 (2005)
 DOI:10.1056/NEJMoa033349","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00150"">H00150</a>","ダノン病
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Danon disease is an X-linked disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). However, at present, it is considered that Danon disease is not a glycogen storage disease because the disease is caused by the primary deficiency of a lysosomal membrane protein instead of a glycolytic enzyme and detailed pathological features are different from those of Pompe disease.",,"LAMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3920"">3920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06528"">K06528</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052120"">D052120</a>
 OMIM: <a href=""https://www.omim.org/entry/300257"">300257</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17027858"">17027858</a>
 著者        Nishino I
 タイトル      Autophagic vacuolar myopathy.
 雑誌        Semin Pediatr Neurol 13:90-5 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2006.06.004"">10.1016/j.spen.2006.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18377432"">18377432</a>
 著者        Yang Z, Vatta M
 タイトル      Danon disease as a cause of autophagic vacuolar myopathy.
 雑誌        Congenit Heart Dis 2:404-9 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1747-0803.2007.00132.x"">10.1111/j.1747-0803.2007.00132.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15673802"">15673802</a>
 著者        Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG
 タイトル      Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
 雑誌        N Engl J Med 352:362-72 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa033349"">10.1056/NEJMoa033349</a>"
H00151,"脳腱黄色腫症;
 ヴァン-ボガエール病
 上位グループ    先天性胆汁酸代謝異常症 [DS:H00628]
 黄色腫 [DS:H01661]",,,"Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.",先天性代謝異常症,nt06022  Bile acid biosynthesis,CYP27A1 [HSA:1593] [KO:K00488],,,,,,"ICD-11: 5C52.11
 ICD-10: E75.5
 MeSH: D019294
 OMIM: 213700","PMID:16816916
 著者        Gallus GN, Dotti MT, Federico A
 タイトル      Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
 雑誌        Neurol Sci 27:143-9 (2006)
 DOI:10.1007/s10072-006-0618-7
 PMID:15061585
 著者        Moghadasian MH
 タイトル      Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
 雑誌        Clin Invest Med 27:42-50 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00151"">H00151</a>","脳腱黄色腫症;
 ヴァン-ボガエール病
 上位グループ    先天性胆汁酸代謝異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00628"">H00628</a>]
 黄色腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01661"">H01661</a>]","Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.","<a href=""https://www.kegg.jp/network/nt06022"">nt06022</a>  Bile acid biosynthesis","CYP27A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1593"">1593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00488"">K00488</a>]",,,,,,"ICD-11: 5C52.11
 ICD-10: E75.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019294"">D019294</a>
 OMIM: <a href=""https://www.omim.org/entry/213700"">213700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16816916"">16816916</a>
 著者        Gallus GN, Dotti MT, Federico A
 タイトル      Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
 雑誌        Neurol Sci 27:143-9 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10072-006-0618-7"">10.1007/s10072-006-0618-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15061585"">15061585</a>
 著者        Moghadasian MH
 タイトル      Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
 雑誌        Clin Invest Med 27:42-50 (2004)"
H00152,"シトステロール血症
 上位グループ    巨大血小板性血小板減少症 [DS:H01740]",,,Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols.,先天性代謝異常症,,"(STSL1) ABCG8 [HSA:64241] [KO:K05684]
 (STSL2) ABCG5 [HSA:64240] [KO:K05683]",,,,エゼチミブ [DR:D01966],,"ICD-11: 5C52.1Y
 ICD-10: E78.5
 MeSH: C537345
 OMIM: 210250 618666","PMID:15599566
 著者        Sudhop T, von Bergmann K
 タイトル      Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor?
 雑誌        Z Kardiol 93:921-8 (2004)
 DOI:10.1007/s00392-004-0165-2
 PMID:11264985 (ABCG5_8)
 著者        Lee MH, Lu K, Patel SB
 タイトル      Genetic basis of sitosterolemia.
 雑誌        Curr Opin Lipidol 12:141-9 (2001)
 DOI:10.1097/00041433-200104000-00007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00152"">H00152</a>","シトステロール血症
 上位グループ    巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]",Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols.,,"(STSL1) ABCG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64241"">64241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05684"">K05684</a>]
 (STSL2) ABCG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64240"">64240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05683"">K05683</a>]",,,,"エゼチミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01966"">D01966</a>]",,"ICD-11: 5C52.1Y
 ICD-10: E78.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537345"">C537345</a>
 OMIM: <a href=""https://www.omim.org/entry/210250"">210250</a> <a href=""https://www.omim.org/entry/618666"">618666</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15599566"">15599566</a>
 著者        Sudhop T, von Bergmann K
 タイトル      Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor?
 雑誌        Z Kardiol 93:921-8 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00392-004-0165-2"">10.1007/s00392-004-0165-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11264985"">11264985</a> (ABCG5_8)
 著者        Lee MH, Lu K, Patel SB
 タイトル      Genetic basis of sitosterolemia.
 雑誌        Curr Opin Lipidol 12:141-9 (2001)
 DOI:<a href=""https://doi.org/10.1097/00041433-200104000-00007"">10.1097/00041433-200104000-00007</a>"
H00153,"家族性複合型高脂血症
 上位グループ    脂質異常症 [DS:H01635]",,,"Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides, or both.",先天性代謝異常症,,"(FCHL1) USF1 [HSA:7391] [KO:K09106]
 (FCHL3) LPL [HSA:4023] [KO:K01059]",,,,,,"ICD-11: 5C80.2
 ICD-10: E78.4
 MeSH: D006950
 OMIM: 602491 144250","PMID:16680034
 著者        Naukkarinen J, Ehnholm C, Peltonen L
 タイトル      Genetics of familial combined hyperlipidemia.
 雑誌        Curr Opin Lipidol 17:285-90 (2006)
 DOI:10.1097/01.mol.0000226121.27931.3f
 PMID:16531745 (FCHL1)
 著者        Lee JC, Lusis AJ, Pajukanta P
 タイトル      Familial combined hyperlipidemia: upstream transcription factor 1 and beyond.
 雑誌        Curr Opin Lipidol 17:101-9 (2006)
 DOI:10.1097/01.mol.0000217890.54875.13
 PMID:14991056 (FCHL1)
 著者        Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L
 タイトル      Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).
 雑誌        Nat Genet 36:371-6 (2004)
 DOI:10.1038/ng1320
 PMID:7753827 (FCHL3)
 著者        Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS
 タイトル      A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
 雑誌        Proc Natl Acad Sci U S A 92:4462-6 (1995)
 DOI:10.1073/pnas.92.10.4462","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00153"">H00153</a>","家族性複合型高脂血症
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides, or both.",,"(FCHL1) USF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7391"">7391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09106"">K09106</a>]
 (FCHL3) LPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4023"">4023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01059"">K01059</a>]",,,,,,"ICD-11: 5C80.2
 ICD-10: E78.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006950"">D006950</a>
 OMIM: <a href=""https://www.omim.org/entry/602491"">602491</a> <a href=""https://www.omim.org/entry/144250"">144250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16680034"">16680034</a>
 著者        Naukkarinen J, Ehnholm C, Peltonen L
 タイトル      Genetics of familial combined hyperlipidemia.
 雑誌        Curr Opin Lipidol 17:285-90 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mol.0000226121.27931.3f"">10.1097/01.mol.0000226121.27931.3f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16531745"">16531745</a> (FCHL1)
 著者        Lee JC, Lusis AJ, Pajukanta P
 タイトル      Familial combined hyperlipidemia: upstream transcription factor 1 and beyond.
 雑誌        Curr Opin Lipidol 17:101-9 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mol.0000217890.54875.13"">10.1097/01.mol.0000217890.54875.13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14991056"">14991056</a> (FCHL1)
 著者        Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L
 タイトル      Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).
 雑誌        Nat Genet 36:371-6 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1320"">10.1038/ng1320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7753827"">7753827</a> (FCHL3)
 著者        Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS
 タイトル      A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
 雑誌        Proc Natl Acad Sci U S A 92:4462-6 (1995)
 DOI:<a href=""https://doi.org/10.1073/pnas.92.10.4462"">10.1073/pnas.92.10.4462</a>"
H00154,"高リポ蛋白血症 I 型
 上位グループ    原発性高カイロミクロン血症 [DS:H01784]
 脂質異常症 [DS:H01635]",,,Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.,先天代謝異常症; 循環器疾患,,"LPL; lipoprotein lipase [HSA:4023] [KO:K01059]
 APOC2; apolipoprotein C-II [HSA:344] [KO:K22287]
 GPIHBP1 [HSA:338328] [KO:K20001]",,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: D008072
 OMIM: 238600 207750 615947","PMID:15719847 (LPL)
 著者        Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA
 タイトル      Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice.
 雑誌        Neth J Med 63:14-9 (2005)
 PMID:8843465 (LPL)
 著者        Murthy V, Julien P, Gagne C
 タイトル      Molecular pathobiology of the human lipoprotein lipase gene.
 雑誌        Pharmacol Ther 70:101-35 (1996)
 DOI:10.1016/0163-7258(96)00005-8
 PMID:2010533 (LPL)
 著者        Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC
 タイトル      Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
 雑誌        J Clin Invest 87:1165-70 (1991)
 DOI:10.1172/JCI115114
 PMID:3225819 (APOC2)
 著者        Cox DW, Wills DE, Quan F, Ray PN
 タイトル      A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
 雑誌        J Med Genet 25:649-52 (1988)
 DOI:10.1136/jmg.25.10.649
 PMID:19304573 (GPIHBP1)
 著者        Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG
 タイトル      Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
 雑誌        Arterioscler Thromb Vasc Biol 29:956-62 (2009)
 DOI:10.1161/ATVBAHA.109.186577","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00154"">H00154</a>","高リポ蛋白血症 I 型
 上位グループ    原発性高カイロミクロン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01784"">H01784</a>]
 脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]",Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.,,"LPL; lipoprotein lipase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4023"">4023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01059"">K01059</a>]
 APOC2; apolipoprotein C-II [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:344"">344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22287"">K22287</a>]
 GPIHBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338328"">338328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20001"">K20001</a>]",,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008072"">D008072</a>
 OMIM: <a href=""https://www.omim.org/entry/238600"">238600</a> <a href=""https://www.omim.org/entry/207750"">207750</a> <a href=""https://www.omim.org/entry/615947"">615947</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15719847"">15719847</a> (LPL)
 著者        Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA
 タイトル      Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice.
 雑誌        Neth J Med 63:14-9 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8843465"">8843465</a> (LPL)
 著者        Murthy V, Julien P, Gagne C
 タイトル      Molecular pathobiology of the human lipoprotein lipase gene.
 雑誌        Pharmacol Ther 70:101-35 (1996)
 DOI:<a href=""https://doi.org/10.1016/0163-7258(96)00005-8"">10.1016/0163-7258(96)00005-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2010533"">2010533</a> (LPL)
 著者        Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC
 タイトル      Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
 雑誌        J Clin Invest 87:1165-70 (1991)
 DOI:<a href=""https://doi.org/10.1172/JCI115114"">10.1172/JCI115114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3225819"">3225819</a> (APOC2)
 著者        Cox DW, Wills DE, Quan F, Ray PN
 タイトル      A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
 雑誌        J Med Genet 25:649-52 (1988)
 DOI:<a href=""https://doi.org/10.1136/jmg.25.10.649"">10.1136/jmg.25.10.649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19304573"">19304573</a> (GPIHBP1)
 著者        Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG
 タイトル      Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
 雑誌        Arterioscler Thromb Vasc Biol 29:956-62 (2009)
 DOI:<a href=""https://doi.org/10.1161/ATVBAHA.109.186577"">10.1161/ATVBAHA.109.186577</a>"
H00155,"家族性高コレステロール血症
 下位グループ    常染色体劣性遺伝性高コレステロール血症 [DS:H01918]
 上位グループ    脂質異常症 [DS:H01635]",,,"Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.",先天代謝異常症; 循環器疾患,nt06320  APOB-LDLR signaling,"(FHCL1) LDLR [HSA:3949] [KO:K12473]
 (FHCL1) EPHX2 [HSA:2053] [KO:K08726]
 (FHCL1) GHR [HSA:2690] [KO:K05080]
 (FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
 (FHCL1) APOA2 [HSA:336] [KO:K08758]
 (FHCL2) APOB [HSA:338] [KO:K14462]
 (FHCL3) PCSK9 [HSA:255738] [KO:K13050]
 (FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]",,,,"フェノフィブラート [DR:D00565]
 シンバスタチン [DR:D00434]
 プラバスタチンナトリウム [DR:D00893]
 フルバスタチンナトリウム [DR:D00892]
 アトルバスタチンカルシウム水和物 [DR:D02258]
 ロスバスタチンカルシウム [DR:D01915]
 ピタバスタチンカルシウム [DR:D01862]
 ピタバスタチンカルシウム水和物 [DR:D10568]
 プロブコール [DR:D00476]
 エゼチミブ [DR:D01966]
 ロミタピドメシル酸塩 [DR:D09638]
 エボロクマブ [DR:D10557]
 アリロクマブ [DR:D10335]
 エゼチミブ・アトルバスタチン [DR:D10385]
 コレスチミド [DR:D01934]
 エゼチミブ・ロスバスタチン [DR:D11520]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:D08488]",,"ICD-11: 5C80.00
 ICD-10: E78.0
 MeSH: D006937
 OMIM: 143890 144010 603776 603813","PMID:18607183
 著者        Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D
 タイトル      What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
 雑誌        Curr Opin Lipidol 19:362-8 (2008)
 DOI:10.1097/MOL.0b013e32830636e5
 PMID:15657617
 著者        Newson AJ, Humphries SE
 タイトル      Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
 雑誌        Eur J Hum Genet 13:401-8 (2005)
 DOI:10.1038/sj.ejhg.5201360
 PMID:15990592
 著者        Hadfield SG, Humphries SE
 タイトル      Implementation of cascade testing for the detection of familial hypercholesterolaemia.
 雑誌        Curr Opin Lipidol 16:428-33 (2005)
 DOI:10.1097/01.mol.0000174152.76554.d6
 PMID:11389828 (LDLR)
 著者        Koivisto UM, Hubbard AL, Mellman I
 タイトル      A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.
 雑誌        Cell 105:575-85 (2001)
 DOI:10.1016/s0092-8674(01)00371-3
 PMID:14673705 (EPHX2)
 著者        Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S, Xin Y, Wu LL, Larrinaga-Shum S, Stephenson SH, Hunt SC, Hopkins PN
 タイトル      Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.
 雑誌        J Hum Genet 49:29-34 (2004)
 DOI:10.1007/s10038-003-0103-6
 PMID:12910492 (GHR)
 著者        Takada D, Ezura Y, Ono S, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN, Emi M
 タイトル      Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.
 雑誌        Am J Med Genet A 121A:136-40 (2003)
 DOI:10.1002/ajmg.a.20172
 PMID:12955585 (PPP1R17)
 著者        Ono S, Ezura Y, Emi M, Fujita Y, Takada D, Sato K, Ishigami T, Umemura S, Takahashi K, Kamimura K, Bujo H, Saito Y
 タイトル      A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
 雑誌        J Hum Genet 48:447-450 (2003)
 DOI:10.1007/s10038-003-0055-x
 PMID:12522687 (APOA2)
 著者        Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN
 タイトル      Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
 雑誌        J Hum Genet 47:656-64 (2002)
 DOI:10.1007/s100380200101
 PMID:10952765 (APOB)
 著者        Saint-Jore B, Varret M, Dachet C, Rabes JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathe D, Chanu B, Jacotot B, Farnier M, Bonaiti-Pellie C, Junien C, Boileau C
 タイトル      Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
 雑誌        Eur J Hum Genet 8:621-30 (2000)
 DOI:10.1038/sj.ejhg.5200516
 PMID:12730697 (PCSK9)
 著者        Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C
 タイトル      Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
 雑誌        Nat Genet 34:154-6 (2003)
 DOI:10.1038/ng1161
 PMID:12016260 (LDLRAP1)
 著者        Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC
 タイトル      Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
 雑誌        Circ Res 90:951-8 (2002)
 DOI:10.1161/01.res.0000018002.43041.08","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00155"">H00155</a>","家族性高コレステロール血症
 下位グループ    常染色体劣性遺伝性高コレステロール血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01918"">H01918</a>]
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.","<a href=""https://www.kegg.jp/network/nt06320"">nt06320</a>  APOB-LDLR signaling","(FHCL1) LDLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3949"">3949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12473"">K12473</a>]
 (FHCL1) EPHX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2053"">2053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08726"">K08726</a>]
 (FHCL1) GHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2690"">2690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05080"">K05080</a>]
 (FHCL1) PPP1R17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10842"">10842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08067"">K08067</a>]
 (FHCL1) APOA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:336"">336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08758"">K08758</a>]
 (FHCL2) APOB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338"">338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14462"">K14462</a>]
 (FHCL3) PCSK9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:255738"">255738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13050"">K13050</a>]
 (FHCL4) LDLRAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26119"">26119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12474"">K12474</a>]",,,,"フェノフィブラート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00565"">D00565</a>]
 シンバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00434"">D00434</a>]
 プラバスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00893"">D00893</a>]
 フルバスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00892"">D00892</a>]
 アトルバスタチンカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02258"">D02258</a>]
 ロスバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01915"">D01915</a>]
 ピタバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01862"">D01862</a>]
 ピタバスタチンカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10568"">D10568</a>]
 プロブコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00476"">D00476</a>]
 エゼチミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01966"">D01966</a>]
 ロミタピドメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09638"">D09638</a>]
 エボロクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10557"">D10557</a>]
 アリロクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10335"">D10335</a>]
 エゼチミブ・アトルバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10385"">D10385</a>]
 コレスチミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01934"">D01934</a>]
 エゼチミブ・ロスバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11520"">D11520</a>]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08488"">D08488</a>]",,"ICD-11: 5C80.00
 ICD-10: E78.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006937"">D006937</a>
 OMIM: <a href=""https://www.omim.org/entry/143890"">143890</a> <a href=""https://www.omim.org/entry/144010"">144010</a> <a href=""https://www.omim.org/entry/603776"">603776</a> <a href=""https://www.omim.org/entry/603813"">603813</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18607183"">18607183</a>
 著者        Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D
 タイトル      What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
 雑誌        Curr Opin Lipidol 19:362-8 (2008)
 DOI:<a href=""https://doi.org/10.1097/MOL.0b013e32830636e5"">10.1097/MOL.0b013e32830636e5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15657617"">15657617</a>
 著者        Newson AJ, Humphries SE
 タイトル      Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
 雑誌        Eur J Hum Genet 13:401-8 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201360"">10.1038/sj.ejhg.5201360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15990592"">15990592</a>
 著者        Hadfield SG, Humphries SE
 タイトル      Implementation of cascade testing for the detection of familial hypercholesterolaemia.
 雑誌        Curr Opin Lipidol 16:428-33 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.mol.0000174152.76554.d6"">10.1097/01.mol.0000174152.76554.d6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11389828"">11389828</a> (LDLR)
 著者        Koivisto UM, Hubbard AL, Mellman I
 タイトル      A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.
 雑誌        Cell 105:575-85 (2001)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(01)00371-3"">10.1016/s0092-8674(01)00371-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14673705"">14673705</a> (EPHX2)
 著者        Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S, Xin Y, Wu LL, Larrinaga-Shum S, Stephenson SH, Hunt SC, Hopkins PN
 タイトル      Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.
 雑誌        J Hum Genet 49:29-34 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0103-6"">10.1007/s10038-003-0103-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12910492"">12910492</a> (GHR)
 著者        Takada D, Ezura Y, Ono S, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN, Emi M
 タイトル      Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.
 雑誌        Am J Med Genet A 121A:136-40 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20172"">10.1002/ajmg.a.20172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12955585"">12955585</a> (PPP1R17)
 著者        Ono S, Ezura Y, Emi M, Fujita Y, Takada D, Sato K, Ishigami T, Umemura S, Takahashi K, Kamimura K, Bujo H, Saito Y
 タイトル      A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
 雑誌        J Hum Genet 48:447-450 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0055-x"">10.1007/s10038-003-0055-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12522687"">12522687</a> (APOA2)
 著者        Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN
 タイトル      Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
 雑誌        J Hum Genet 47:656-64 (2002)
 DOI:<a href=""https://doi.org/10.1007/s100380200101"">10.1007/s100380200101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10952765"">10952765</a> (APOB)
 著者        Saint-Jore B, Varret M, Dachet C, Rabes JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathe D, Chanu B, Jacotot B, Farnier M, Bonaiti-Pellie C, Junien C, Boileau C
 タイトル      Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
 雑誌        Eur J Hum Genet 8:621-30 (2000)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200516"">10.1038/sj.ejhg.5200516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12730697"">12730697</a> (PCSK9)
 著者        Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C
 タイトル      Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
 雑誌        Nat Genet 34:154-6 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1161"">10.1038/ng1161</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12016260"">12016260</a> (LDLRAP1)
 著者        Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC
 タイトル      Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
 雑誌        Circ Res 90:951-8 (2002)
 DOI:<a href=""https://doi.org/10.1161/01.res.0000018002.43041.08"">10.1161/01.res.0000018002.43041.08</a>"
H00156,"高リポ蛋白血症 III 型;
 異常βリポ蛋白血症
 上位グループ    脂質異常症 [DS:H01635]",,,Hyperlipoproteinemia type III is an autosomal recessively disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E.,先天性代謝異常症,,APOE [HSA:348] [KO:K04524],,,,,,"ICD-11: 5C80.2
 ICD-10: E78.2
 MeSH: D006952
 OMIM: 617347","PMID:17593519 (APOE)
 著者        Karube M, Nakabayashi K, Fujioka Y, Yoshihara K, Yamada A, Matsunaga A, Saito T
 タイトル      Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
 雑誌        Clin Exp Nephrol 11:174-9 (2007)
 DOI:10.1007/s10157-007-0469-4
 PMID:15630634
 著者        Smelt AH, de Beer F
 タイトル      Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects.
 雑誌        Semin Vasc Med 4:249-57 (2004)
 DOI:10.1055/s-2004-861492","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00156"">H00156</a>","高リポ蛋白血症 III 型;
 異常βリポ蛋白血症
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]",Hyperlipoproteinemia type III is an autosomal recessively disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E.,,"APOE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348"">348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04524"">K04524</a>]",,,,,,"ICD-11: 5C80.2
 ICD-10: E78.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006952"">D006952</a>
 OMIM: <a href=""https://www.omim.org/entry/617347"">617347</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17593519"">17593519</a> (APOE)
 著者        Karube M, Nakabayashi K, Fujioka Y, Yoshihara K, Yamada A, Matsunaga A, Saito T
 タイトル      Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
 雑誌        Clin Exp Nephrol 11:174-9 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10157-007-0469-4"">10.1007/s10157-007-0469-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630634"">15630634</a>
 著者        Smelt AH, de Beer F
 タイトル      Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects.
 雑誌        Semin Vasc Med 4:249-57 (2004)
 DOI:<a href=""https://doi.org/10.1055/s-2004-861492"">10.1055/s-2004-861492</a>"
H00157,"高リポ蛋白血症 V 型
 上位グループ    原発性高カイロミクロン血症 [DS:H01784]
 脂質異常症 [DS:H01635]",,,Type V hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of apolipoprotein A-V and characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast.,先天性代謝異常症,,APOA5 [HSA:116519] [KO:K09025],,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: D006954
 OMIM: 144650","PMID:16531747 (APOA5)
 著者        Calandra S, Priore Oliva C, Tarugi P, Bertolini S
 タイトル      APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
 雑誌        Curr Opin Lipidol 17:122-7 (2006)
 DOI:10.1097/01.mol.0000217892.00618.54
 PMID:16306435 (APOA5)
 著者        Rensen PC, van Dijk KW, Havekes LM
 タイトル      Apolipoprotein AV: low concentration, high impact.
 雑誌        Arterioscler Thromb Vasc Biol 25:2445-7 (2005)
 DOI:10.1161/01.ATV.0000193889.65915.f9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00157"">H00157</a>","高リポ蛋白血症 V 型
 上位グループ    原発性高カイロミクロン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01784"">H01784</a>]
 脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]",Type V hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of apolipoprotein A-V and characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast.,,"APOA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116519"">116519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09025"">K09025</a>]",,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006954"">D006954</a>
 OMIM: <a href=""https://www.omim.org/entry/144650"">144650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16531747"">16531747</a> (APOA5)
 著者        Calandra S, Priore Oliva C, Tarugi P, Bertolini S
 タイトル      APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
 雑誌        Curr Opin Lipidol 17:122-7 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mol.0000217892.00618.54"">10.1097/01.mol.0000217892.00618.54</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16306435"">16306435</a> (APOA5)
 著者        Rensen PC, van Dijk KW, Havekes LM
 タイトル      Apolipoprotein AV: low concentration, high impact.
 雑誌        Arterioscler Thromb Vasc Biol 25:2445-7 (2005)
 DOI:<a href=""https://doi.org/10.1161/01.ATV.0000193889.65915.f9"">10.1161/01.ATV.0000193889.65915.f9</a>"
H00158,"レシチンコレステロールアシルトランスフェラーゼ欠損症
 上位グループ    低アルファリポ蛋白血症 [DS:H00930]",,,"Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria.",先天性代謝異常症,,LCAT [HSA:3931] [KO:K00650],,,,,,"ICD-11: 5C81.Y
 ICD-10: E78.6
 MeSH: D007863
 OMIM: 245900 136120","PMID:16709953
 著者        Berglund L
 タイトル      Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms.
 雑誌        Arterioscler Thromb Vasc Biol 26:1201-3 (2006)
 DOI:10.1161/01.ATV.0000217281.06795.61
 PMID:16543491
 著者        Nishiwaki M, Ikewaki K, Bader G, Nazih H, Hannuksela M, Remaley AT, Shamburek RD, Brewer HB Jr
 タイトル      Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X.
 雑誌        Arterioscler Thromb Vasc Biol 26:1370-5 (2006)
 DOI:10.1161/01.ATV.0000217910.90210.99
 PMID:9162740
 著者        Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
 タイトル      The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.
 雑誌        J Lipid Res 38:191-205 (1997)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00158"">H00158</a>","レシチンコレステロールアシルトランスフェラーゼ欠損症
 上位グループ    低アルファリポ蛋白血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00930"">H00930</a>]","Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria.",,"LCAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3931"">3931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00650"">K00650</a>]",,,,,,"ICD-11: 5C81.Y
 ICD-10: E78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007863"">D007863</a>
 OMIM: <a href=""https://www.omim.org/entry/245900"">245900</a> <a href=""https://www.omim.org/entry/136120"">136120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16709953"">16709953</a>
 著者        Berglund L
 タイトル      Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms.
 雑誌        Arterioscler Thromb Vasc Biol 26:1201-3 (2006)
 DOI:<a href=""https://doi.org/10.1161/01.ATV.0000217281.06795.61"">10.1161/01.ATV.0000217281.06795.61</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16543491"">16543491</a>
 著者        Nishiwaki M, Ikewaki K, Bader G, Nazih H, Hannuksela M, Remaley AT, Shamburek RD, Brewer HB Jr
 タイトル      Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X.
 雑誌        Arterioscler Thromb Vasc Biol 26:1370-5 (2006)
 DOI:<a href=""https://doi.org/10.1161/01.ATV.0000217910.90210.99"">10.1161/01.ATV.0000217910.90210.99</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9162740"">9162740</a>
 著者        Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
 タイトル      The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.
 雑誌        J Lipid Res 38:191-205 (1997)"
H00159,"タンジール病
 上位グループ    低アルファリポ蛋白血症 [DS:H00930]",,,Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.,先天性代謝異常症,,ABCA1 [HSA:19] [KO:K05641],,,,,,"ICD-11: 5C81.0
 ICD-10: E78.6
 MeSH: D013631
 OMIM: 205400","PMID:16235041
 著者        Nofer JR, Remaley AT
 タイトル      Tangier disease: still more questions than answers.
 雑誌        Cell Mol Life Sci 62:2150-60 (2005)
 DOI:10.1007/s00018-005-5125-0
 PMID:11927274
 著者        Oram JF
 タイトル      Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1.
 雑誌        Trends Mol Med 8:168-73 (2002)
 DOI:10.1016/S1471-4914(02)02289-X
 PMID:11111099
 著者        Oram JF
 タイトル      Tangier disease and ABCA1.
 雑誌        Biochim Biophys Acta 1529:321-30 (2000)
 DOI:10.1016/S1388-1981(00)00157-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00159"">H00159</a>","タンジール病
 上位グループ    低アルファリポ蛋白血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00930"">H00930</a>]",Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.,,"ABCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:19"">19</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05641"">K05641</a>]",,,,,,"ICD-11: 5C81.0
 ICD-10: E78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013631"">D013631</a>
 OMIM: <a href=""https://www.omim.org/entry/205400"">205400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16235041"">16235041</a>
 著者        Nofer JR, Remaley AT
 タイトル      Tangier disease: still more questions than answers.
 雑誌        Cell Mol Life Sci 62:2150-60 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00018-005-5125-0"">10.1007/s00018-005-5125-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11927274"">11927274</a>
 著者        Oram JF
 タイトル      Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1.
 雑誌        Trends Mol Med 8:168-73 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1471-4914(02)02289-X"">10.1016/S1471-4914(02)02289-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11111099"">11111099</a>
 著者        Oram JF
 タイトル      Tangier disease and ABCA1.
 雑誌        Biochim Biophys Acta 1529:321-30 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(00)00157-8"">10.1016/S1388-1981(00)00157-8</a>"
H00160,"無βリポタンパク血症;
 バッセン・コーンツヴァイク病",,,Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.,先天性代謝異常症,,MTTP [HSA:4547] [KO:K14463],,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: D000012
 OMIM: 200100","PMID:18611256 (MTTP)
 著者        Zamel R, Khan R, Pollex RL, Hegele RA
 タイトル      Abetalipoproteinemia: two case reports and literature review.
 雑誌        Orphanet J Rare Dis 3:19 (2008)
 DOI:10.1186/1750-1172-3-19
 PMID:10940349 (MTTP)
 著者        Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR
 タイトル      The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.
 雑誌        Annu Rev Nutr 20:663-97 (2000)
 DOI:10.1146/annurev.nutr.20.1.663","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00160"">H00160</a>","無βリポタンパク血症;
 バッセン・コーンツヴァイク病",Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.,,"MTTP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4547"">4547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14463"">K14463</a>]",,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000012"">D000012</a>
 OMIM: <a href=""https://www.omim.org/entry/200100"">200100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18611256"">18611256</a> (MTTP)
 著者        Zamel R, Khan R, Pollex RL, Hegele RA
 タイトル      Abetalipoproteinemia: two case reports and literature review.
 雑誌        Orphanet J Rare Dis 3:19 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-19"">10.1186/1750-1172-3-19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10940349"">10940349</a> (MTTP)
 著者        Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR
 タイトル      The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.
 雑誌        Annu Rev Nutr 20:663-97 (2000)
 DOI:<a href=""https://doi.org/10.1146/annurev.nutr.20.1.663"">10.1146/annurev.nutr.20.1.663</a>"
H00161,スミス・レムリ・オピッツ症候群,,,Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.,先天性代謝異常症,,DHCR7 [HSA:1717] [KO:K00213],,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.1
 MeSH: D019082
 OMIM: 270400","PMID:18285838
 著者        Porter FD
 タイトル      Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
 雑誌        Eur J Hum Genet 16:535-41 (2008)
 DOI:10.1038/ejhg.2008.10
 PMID:16207203
 著者        Yu H, Patel SB
 タイトル      Recent insights into the Smith-Lemli-Opitz syndrome.
 雑誌        Clin Genet 68:383-91 (2005)
 DOI:10.1111/j.1399-0004.2005.00515.x
 PMID:15670717
 著者        Correa-Cerro LS, Porter FD
 タイトル      3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
 雑誌        Mol Genet Metab 84:112-26 (2005)
 DOI:10.1016/j.ymgme.2004.09.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00161"">H00161</a>",スミス・レムリ・オピッツ症候群,Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.,,"DHCR7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1717"">1717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00213"">K00213</a>]",,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019082"">D019082</a>
 OMIM: <a href=""https://www.omim.org/entry/270400"">270400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18285838"">18285838</a>
 著者        Porter FD
 タイトル      Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
 雑誌        Eur J Hum Genet 16:535-41 (2008)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.10"">10.1038/ejhg.2008.10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16207203"">16207203</a>
 著者        Yu H, Patel SB
 タイトル      Recent insights into the Smith-Lemli-Opitz syndrome.
 雑誌        Clin Genet 68:383-91 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2005.00515.x"">10.1111/j.1399-0004.2005.00515.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15670717"">15670717</a>
 著者        Correa-Cerro LS, Porter FD
 タイトル      3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
 雑誌        Mol Genet Metab 84:112-26 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.09.017"">10.1016/j.ymgme.2004.09.017</a>"
H00162,シェーグレン・ラルソン症候群,,,Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis.,先天性代謝異常症,,ALDH3A2 [HSA:224] [KO:K00128],,,,,,"ICD-11: 5C52.03
 ICD-10: E71.3
 MeSH: D016111
 OMIM: 270200","PMID:17254005
 著者        Gordon N
 タイトル      Sjogren-Larsson syndrome.
 雑誌        Dev Med Child Neurol 49:152-4 (2007)
 DOI:10.1111/j.1469-8749.2007.00152.x
 PMID:16996289
 著者        Rizzo WB
 タイトル      Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
 雑誌        Mol Genet Metab 90:1-9 (2007)
 DOI:10.1016/j.ymgme.2006.08.006
 PMID:15931689
 著者        Rizzo WB, Carney G
 タイトル      Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
 雑誌        Hum Mutat 26:1-10 (2005)
 DOI:10.1002/humu.20181","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00162"">H00162</a>",シェーグレン・ラルソン症候群,Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis.,,"ALDH3A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:224"">224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00128"">K00128</a>]",,,,,,"ICD-11: 5C52.03
 ICD-10: E71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016111"">D016111</a>
 OMIM: <a href=""https://www.omim.org/entry/270200"">270200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17254005"">17254005</a>
 著者        Gordon N
 タイトル      Sjogren-Larsson syndrome.
 雑誌        Dev Med Child Neurol 49:152-4 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2007.00152.x"">10.1111/j.1469-8749.2007.00152.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16996289"">16996289</a>
 著者        Rizzo WB
 タイトル      Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
 雑誌        Mol Genet Metab 90:1-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.08.006"">10.1016/j.ymgme.2006.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15931689"">15931689</a>
 著者        Rizzo WB, Carney G
 タイトル      Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
 雑誌        Hum Mutat 26:1-10 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20181"">10.1002/humu.20181</a>"
H00163,アルカプトン尿症,,,"Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and the aortic valve.",先天性代謝異常症,nt06016  Phenylalanine and tyrosine metabolism,HGD [HSA:3081] [KO:K00451],,,,,,"ICD-11: 5C50.10
 ICD-10: E70.2
 MeSH: D000474
 OMIM: 203500","PMID:18336562
 著者        Helliwell TR, Gallagher JA, Ranganath L
 タイトル      Alkaptonuria--a review of surgical and autopsy pathology.
 雑誌        Histopathology 53:503-12 (2008)
 DOI:10.1111/j.1365-2559.2008.03000.x
 PMID:9529368
 著者        La Du BN Jr
 タイトル      Are we ready to try to cure alkaptonuria?
 雑誌        Am J Hum Genet 62:765-7 (1998)
 DOI:10.1086/301810
 PMID:8782815
 著者        Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S
 タイトル      The molecular basis of alkaptonuria.
 雑誌        Nat Genet 14:19-24 (1996)
 DOI:10.1038/ng0996-19
 PMID:23430917 (treatment)
 著者        Cox TM
 タイトル      Alkaptonuria: leading to the treasure in exceptions.
 雑誌        JIMD Rep 5:49-57 (2012)
 DOI:10.1007/8904_2011_93","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00163"">H00163</a>",アルカプトン尿症,"Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and the aortic valve.","<a href=""https://www.kegg.jp/network/nt06016"">nt06016</a>  Phenylalanine and tyrosine metabolism","HGD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3081"">3081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00451"">K00451</a>]",,,,,,"ICD-11: 5C50.10
 ICD-10: E70.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000474"">D000474</a>
 OMIM: <a href=""https://www.omim.org/entry/203500"">203500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18336562"">18336562</a>
 著者        Helliwell TR, Gallagher JA, Ranganath L
 タイトル      Alkaptonuria--a review of surgical and autopsy pathology.
 雑誌        Histopathology 53:503-12 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2559.2008.03000.x"">10.1111/j.1365-2559.2008.03000.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9529368"">9529368</a>
 著者        La Du BN Jr
 タイトル      Are we ready to try to cure alkaptonuria?
 雑誌        Am J Hum Genet 62:765-7 (1998)
 DOI:<a href=""https://doi.org/10.1086/301810"">10.1086/301810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8782815"">8782815</a>
 著者        Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S
 タイトル      The molecular basis of alkaptonuria.
 雑誌        Nat Genet 14:19-24 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0996-19"">10.1038/ng0996-19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430917"">23430917</a> (treatment)
 著者        Cox TM
 タイトル      Alkaptonuria: leading to the treasure in exceptions.
 雑誌        JIMD Rep 5:49-57 (2012)
 DOI:<a href=""https://doi.org/10.1007/8904_2011_93"">10.1007/8904_2011_93</a>"
H00164,"カルバモイルリン酸合成酵素 I 欠損症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia.,先天性代謝異常症,nt06010  Urea cycle,CPS1 [HSA:1373] [KO:K01948],,,,,,"ICD-11: 5C50.A1
 ICD-10: E72.2
 MeSH: D020165
 OMIM: 237300","PMID:17310273
 著者        Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T
 タイトル      Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
 雑誌        J Hum Genet 52:349-54 (2007)
 DOI:10.1007/s10038-007-0122-9
 PMID:9711878
 著者        Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A
 タイトル      Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
 雑誌        Hum Mutat 12:206-11 (1998)
 DOI:10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00164"">H00164</a>","カルバモイルリン酸合成酵素 I 欠損症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]",Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia.,"<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","CPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1373"">1373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01948"">K01948</a>]",,,,,,"ICD-11: 5C50.A1
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020165"">D020165</a>
 OMIM: <a href=""https://www.omim.org/entry/237300"">237300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17310273"">17310273</a>
 著者        Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T
 タイトル      Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
 雑誌        J Hum Genet 52:349-54 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10038-007-0122-9"">10.1007/s10038-007-0122-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9711878"">9711878</a>
 著者        Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A
 タイトル      Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
 雑誌        Hum Mutat 12:206-11 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1998)12:"">10.1002/(SICI)1098-1004(1998)12:</a><a href=""https://doi.org/3<206:"">3<206:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU8>3.0.CO;2-E"">AID-HUMU8>3.0.CO;2-E</a>"
H00165,"チロシン血症
 下位グループ    チロシン血症 I 型
 チロシン血症 II 型
 チロシン血症 III 型
 ホーキンシン尿症",,,"The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This disorder is associated with liver failure, painful neurologic crises, rickets, and hepatocarcinoma. Type II is caused by a deficiency of tyrosine aminotransferase (TAT), and clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, that is associated with ataxia and mild mental retardation.",先天性代謝異常症,nt06016  Phenylalanine and tyrosine metabolism,"(TYRSN1) FAH [HSA:2184] [KO:K01555]
 (TYRSN2) TAT [HSA:6898] [KO:K00815]
 (TYRSN3) HPD [HSA:3242] [KO:K00457]",,,,ニチシノン [DR:D05177],,"ICD-11: 5C50.11 5C50.12
 ICD-10: E70.2
 MeSH: D020176
 OMIM: 276700 276600 276710 140350","PMID:16602095
 著者        Scott CR
 タイトル      The genetic tyrosinemias.
 雑誌        Am J Med Genet C Semin Med Genet 142C:121-6 (2006)
 DOI:10.1002/ajmg.c.30092
 PMID:15531838
 著者        Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A
 タイトル      Tyrosinemia type I: a clinico-laboratory case report.
 雑誌        Indian J Pediatr 71:929-32 (2004)
 DOI:10.1007/BF02830839
 PMID:18422479
 著者        Santra S, Baumann U
 タイトル      Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.
 雑誌        Expert Opin Pharmacother 9:1229-36 (2008)
 DOI:10.1517/14656566.9.7.1229
 PMID:1401056 (FAH)
 著者        Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM
 タイトル      Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
 雑誌        J Clin Invest 90:1185-92 (1992)
 DOI:10.1172/JCI115979
 PMID:1357662 (TAT)
 著者        Natt E, Kida K, Odievre M, Di Rocco M, Scherer G
 タイトル      Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
 雑誌        Proc Natl Acad Sci U S A 89:9297-301 (1992)
 DOI:10.1073/pnas.89.19.9297
 PMID:10942115 (HPD)
 著者        Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E
 タイトル      Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
 雑誌        Hum Genet 106:654-62 (2000)
 DOI:10.1007/s004390050039","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00165"">H00165</a>","チロシン血症
 下位グループ    チロシン血症 I 型
 チロシン血症 II 型
 チロシン血症 III 型
 ホーキンシン尿症","The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This disorder is associated with liver failure, painful neurologic crises, rickets, and hepatocarcinoma. Type II is caused by a deficiency of tyrosine aminotransferase (TAT), and clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, that is associated with ataxia and mild mental retardation.","<a href=""https://www.kegg.jp/network/nt06016"">nt06016</a>  Phenylalanine and tyrosine metabolism","(TYRSN1) FAH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2184"">2184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01555"">K01555</a>]
 (TYRSN2) TAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6898"">6898</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00815"">K00815</a>]
 (TYRSN3) HPD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3242"">3242</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00457"">K00457</a>]",,,,"ニチシノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05177"">D05177</a>]",,"ICD-11: 5C50.11 5C50.12
 ICD-10: E70.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020176"">D020176</a>
 OMIM: <a href=""https://www.omim.org/entry/276700"">276700</a> <a href=""https://www.omim.org/entry/276600"">276600</a> <a href=""https://www.omim.org/entry/276710"">276710</a> <a href=""https://www.omim.org/entry/140350"">140350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602095"">16602095</a>
 著者        Scott CR
 タイトル      The genetic tyrosinemias.
 雑誌        Am J Med Genet C Semin Med Genet 142C:121-6 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30092"">10.1002/ajmg.c.30092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15531838"">15531838</a>
 著者        Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A
 タイトル      Tyrosinemia type I: a clinico-laboratory case report.
 雑誌        Indian J Pediatr 71:929-32 (2004)
 DOI:<a href=""https://doi.org/10.1007/BF02830839"">10.1007/BF02830839</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18422479"">18422479</a>
 著者        Santra S, Baumann U
 タイトル      Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.
 雑誌        Expert Opin Pharmacother 9:1229-36 (2008)
 DOI:<a href=""https://doi.org/10.1517/14656566.9.7.1229"">10.1517/14656566.9.7.1229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1401056"">1401056</a> (FAH)
 著者        Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM
 タイトル      Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
 雑誌        J Clin Invest 90:1185-92 (1992)
 DOI:<a href=""https://doi.org/10.1172/JCI115979"">10.1172/JCI115979</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1357662"">1357662</a> (TAT)
 著者        Natt E, Kida K, Odievre M, Di Rocco M, Scherer G
 タイトル      Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
 雑誌        Proc Natl Acad Sci U S A 89:9297-301 (1992)
 DOI:<a href=""https://doi.org/10.1073/pnas.89.19.9297"">10.1073/pnas.89.19.9297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10942115"">10942115</a> (HPD)
 著者        Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E
 タイトル      Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
 雑誌        Hum Genet 106:654-62 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004390050039"">10.1007/s004390050039</a>"
H00166,"ヘルマンスキー・パドラック症候群
 上位グループ    リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding.,先天性代謝異常症,,"(HPS1) HPS1 [HSA:3257] [KO:K20193]
 (HPS2) AP3B1 [HSA:8546] [KO:K12397]
 (HPS3) HPS3 [HSA:84343] [KO:K20190]
 (HPS4) HPS4 [HSA:89781] [KO:K20194]
 (HPS5) HPS5 [HSA:11234] [KO:K20191]
 (HPS6) HPS6 [HSA:79803] [KO:K20192]
 (HPS7) DTNBP1 [HSA:84062] [KO:K20189]
 (HPS8) BLOC1S3 [HSA:388552] [KO:K20186]
 (HPS9) BLOC1S6 [HSA:26258] [KO:K20188]
 (HPS10) AP3D1 [HSA:8943] [KO:K12396]
 (HPS11) BLOC1S5 [HSA:63915] [KO:K20187]",,,,,,"ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: D022861
 OMIM: 203300 608233 614072 614073 614074 614075 614076 614077 614171 617050 619172","PMID:16420244
 著者        Wei ML
 タイトル      Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
 雑誌        Pigment Cell Res 19:19-42 (2006)
 DOI:10.1111/j.1600-0749.2005.00289.x
 PMID:15941404
 著者        Di Pietro SM, Dell'Angelica EC
 タイトル      The cell biology of Hermansky-Pudlak syndrome: recent advances.
 雑誌        Traffic 6:525-33 (2005)
 DOI:10.1111/j.1600-0854.2005.00299.x
 PMID:12243726
 著者        Starcevic M, Nazarian R, Dell'Angelica EC
 タイトル      The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.
 雑誌        Semin Cell Dev Biol 13:271-8 (2002)
 DOI:10.1126/science.2363050
 PMID:8896559 (HPS1)
 著者        Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA
 タイトル      Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
 雑誌        Nat Genet 14:300-6 (1996)
 DOI:10.1038/ng1196-300
 PMID:10024875 (AP3B1)
 著者        Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS
 タイトル      Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
 雑誌        Mol Cell 3:11-21 (1999)
 DOI:10.1016/s1097-2765(00)80170-7
 PMID:11455388 (HPS3)
 著者        Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR
 タイトル      Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
 雑誌        Nat Genet 28:376-80 (2001)
 DOI:10.1038/ng576
 PMID:11836498 (HPS4)
 著者        Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA
 タイトル      Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
 雑誌        Nat Genet 30:321-4 (2002)
 DOI:10.1038/ng835
 PMID:12548288 (HPS5 HPS6)
 著者        Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT
 タイトル      Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
 雑誌        Nat Genet 33:145-53 (2003)
 DOI:10.1038/ng1087
 PMID:12923531 (DTNBP1)
 著者        Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT
 タイトル      Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
 雑誌        Nat Genet 35:84-9 (2003)
 DOI:10.1038/ng1229
 PMID:16385460 (BLOC1S3)
 著者        Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER
 タイトル      A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
 雑誌        Am J Hum Genet 78:160-6 (2006)
 DOI:10.1086/499338
 PMID:22461475 (BLOC1S6)
 著者        Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF
 タイトル      Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
 雑誌        Blood 119:3185-7 (2012)
 DOI:10.1182/blood-2012-01-404350
 PMID:26744459 (AP3D1)
 著者        Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S
 タイトル      Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
 雑誌        Blood 127:997-1006 (2016)
 DOI:10.1182/blood-2015-09-671636
 PMID:32565547 (BLOC1S5)
 著者        Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Beatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B
 タイトル      BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
 雑誌        Genet Med 22:1613-1622 (2020)
 DOI:10.1038/s41436-020-0867-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00166"">H00166</a>","ヘルマンスキー・パドラック症候群
 上位グループ    リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding.,,"(HPS1) HPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3257"">3257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20193"">K20193</a>]
 (HPS2) AP3B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8546"">8546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12397"">K12397</a>]
 (HPS3) HPS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84343"">84343</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20190"">K20190</a>]
 (HPS4) HPS4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89781"">89781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20194"">K20194</a>]
 (HPS5) HPS5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11234"">11234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20191"">K20191</a>]
 (HPS6) HPS6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79803"">79803</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20192"">K20192</a>]
 (HPS7) DTNBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84062"">84062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20189"">K20189</a>]
 (HPS8) BLOC1S3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388552"">388552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20186"">K20186</a>]
 (HPS9) BLOC1S6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26258"">26258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20188"">K20188</a>]
 (HPS10) AP3D1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8943"">8943</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12396"">K12396</a>]
 (HPS11) BLOC1S5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63915"">63915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20187"">K20187</a>]",,,,,,"ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D022861"">D022861</a>
 OMIM: <a href=""https://www.omim.org/entry/203300"">203300</a> <a href=""https://www.omim.org/entry/608233"">608233</a> <a href=""https://www.omim.org/entry/614072"">614072</a> <a href=""https://www.omim.org/entry/614073"">614073</a> <a href=""https://www.omim.org/entry/614074"">614074</a> <a href=""https://www.omim.org/entry/614075"">614075</a> <a href=""https://www.omim.org/entry/614076"">614076</a> <a href=""https://www.omim.org/entry/614077"">614077</a> <a href=""https://www.omim.org/entry/614171"">614171</a> <a href=""https://www.omim.org/entry/617050"">617050</a> <a href=""https://www.omim.org/entry/619172"">619172</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16420244"">16420244</a>
 著者        Wei ML
 タイトル      Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
 雑誌        Pigment Cell Res 19:19-42 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0749.2005.00289.x"">10.1111/j.1600-0749.2005.00289.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15941404"">15941404</a>
 著者        Di Pietro SM, Dell'Angelica EC
 タイトル      The cell biology of Hermansky-Pudlak syndrome: recent advances.
 雑誌        Traffic 6:525-33 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0854.2005.00299.x"">10.1111/j.1600-0854.2005.00299.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12243726"">12243726</a>
 著者        Starcevic M, Nazarian R, Dell'Angelica EC
 タイトル      The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.
 雑誌        Semin Cell Dev Biol 13:271-8 (2002)
 DOI:<a href=""https://doi.org/10.1126/science.2363050"">10.1126/science.2363050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8896559"">8896559</a> (HPS1)
 著者        Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA
 タイトル      Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
 雑誌        Nat Genet 14:300-6 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1196-300"">10.1038/ng1196-300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10024875"">10024875</a> (AP3B1)
 著者        Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS
 タイトル      Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
 雑誌        Mol Cell 3:11-21 (1999)
 DOI:<a href=""https://doi.org/10.1016/s1097-2765(00)80170-7"">10.1016/s1097-2765(00)80170-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11455388"">11455388</a> (HPS3)
 著者        Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR
 タイトル      Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
 雑誌        Nat Genet 28:376-80 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng576"">10.1038/ng576</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11836498"">11836498</a> (HPS4)
 著者        Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA
 タイトル      Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
 雑誌        Nat Genet 30:321-4 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng835"">10.1038/ng835</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12548288"">12548288</a> (HPS5 <a href=""https://pubmed.ncbi.nlm.nih.gov/HPS6)"">HPS6)</a>
 著者        Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT
 タイトル      Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
 雑誌        Nat Genet 33:145-53 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1087"">10.1038/ng1087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12923531"">12923531</a> (DTNBP1)
 著者        Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT
 タイトル      Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
 雑誌        Nat Genet 35:84-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1229"">10.1038/ng1229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16385460"">16385460</a> (BLOC1S3)
 著者        Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER
 タイトル      A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
 雑誌        Am J Hum Genet 78:160-6 (2006)
 DOI:<a href=""https://doi.org/10.1086/499338"">10.1086/499338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22461475"">22461475</a> (BLOC1S6)
 著者        Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF
 タイトル      Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
 雑誌        Blood 119:3185-7 (2012)
 DOI:<a href=""https://doi.org/10.1182/blood-2012-01-404350"">10.1182/blood-2012-01-404350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26744459"">26744459</a> (AP3D1)
 著者        Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S
 タイトル      Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
 雑誌        Blood 127:997-1006 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-09-671636"">10.1182/blood-2015-09-671636</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32565547"">32565547</a> (BLOC1S5)
 著者        Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Beatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B
 タイトル      BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
 雑誌        Genet Med 22:1613-1622 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-0867-5"">10.1038/s41436-020-0867-5</a>"
H00167,"フェニルケトン尿症;
 高フェニルアラニン血症",,,"Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues and potentially to intellectual disability, delayed speech, seizures, and behavior abnormalities. Deficiency of tetrahydrobiopterin (BH4), the cofactor of PAH, is caused by defects of the enzymes in pterin biosynthesis. Because BH4 is also a cofactor of tyrosine hydroxylase and tryptophan hydroxylase in neurotransmitter synthesis, BH4-deficient hyperphenylalaninemia is characterized by neurotransmitter deficiencies.",先天性代謝異常症,nt06016  Phenylalanine and tyrosine metabolism,"PAH [HSA:5053] [KO:K00500]
 (BH4-deficient, A) QDPR [HSA:5860] [KO:K00357]
 (BH4-deficient, B) GCH1 [HSA:2643] [KO:K01495]
 (BH4-deficient, C) PTS [HSA:5805] [KO:K01737]
 (BH4-deficient, D) PCBD1 [HSA:5092] [KO:K01724]",,,,"特殊粉乳 [DR:D08831]
 サプロプテリン塩酸塩 [DR:D01798]",,"ICD-11: 5C50.0
 ICD-10: E70.0
 MeSH: D010661
 OMIM: 261600 261630 233910 261640 264070","PMID:23430527
 著者        Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML
 タイトル      A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
 雑誌        JIMD Rep 8:109-19 (2013)
 DOI:10.1007/8904_2012_168","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00167"">H00167</a>","フェニルケトン尿症;
 高フェニルアラニン血症","Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues and potentially to intellectual disability, delayed speech, seizures, and behavior abnormalities. Deficiency of tetrahydrobiopterin (BH4), the cofactor of PAH, is caused by defects of the enzymes in pterin biosynthesis. Because BH4 is also a cofactor of tyrosine hydroxylase and tryptophan hydroxylase in neurotransmitter synthesis, BH4-deficient hyperphenylalaninemia is characterized by neurotransmitter deficiencies.","<a href=""https://www.kegg.jp/network/nt06016"">nt06016</a>  Phenylalanine and tyrosine metabolism","PAH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5053"">5053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00500"">K00500</a>]
 (BH4-deficient, A) QDPR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5860"">5860</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00357"">K00357</a>]
 (BH4-deficient, B) GCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2643"">2643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01495"">K01495</a>]
 (BH4-deficient, C) PTS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5805"">5805</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01737"">K01737</a>]
 (BH4-deficient, D) PCBD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5092"">5092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01724"">K01724</a>]",,,,"特殊粉乳 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08831"">D08831</a>]
 サプロプテリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01798"">D01798</a>]",,"ICD-11: 5C50.0
 ICD-10: E70.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010661"">D010661</a>
 OMIM: <a href=""https://www.omim.org/entry/261600"">261600</a> <a href=""https://www.omim.org/entry/261630"">261630</a> <a href=""https://www.omim.org/entry/233910"">233910</a> <a href=""https://www.omim.org/entry/261640"">261640</a> <a href=""https://www.omim.org/entry/264070"">264070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430527"">23430527</a>
 著者        Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML
 タイトル      A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
 雑誌        JIMD Rep 8:109-19 (2013)
 DOI:<a href=""https://doi.org/10.1007/8904_2012_168"">10.1007/8904_2012_168</a>"
H00168,眼皮膚白皮症,,,"Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes.",先天性代謝異常症,,"(OCA1) TYR [HSA:7299] [KO:K00505]
 (OCA2) OCA2 [HSA:4948] [KO:K24200]
 (OCA2) MC1R [HSA:4157] [KO:K04199]
 (OCA3) TYRP1 [HSA:7306] [KO:K00506]
 (OCA4) SLC45A2 [HSA:51151] [KO:K15378]
 (OCA6) SLC24A5 [HSA:283652] [KO:K13753]
 (OCA7) LRMDA [HSA:83938] [KO:K24399]
 (OCA8) DCT [HSA:1638] [KO:K01827]",,,,,"See also ocular albinism [DS:H00169], which is restricted phenotypically to ocular involvement only.","ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: D016115
 OMIM: 203100 606952 203200 203290 606574 113750 615179 619165","PMID:17980020
 著者        Gronskov K, Ek J, Brondum-Nielsen K
 タイトル      Oculocutaneous albinism.
 雑誌        Orphanet J Rare Dis 2:43 (2007)
 DOI:10.1186/1750-1172-2-43
 PMID:10094567
 著者        Oetting WS, King RA
 タイトル      Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
 雑誌        Hum Mutat 13:99-115 (1999)
 DOI:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C
 PMID:2511845 (OCA1)
 著者        Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S
 タイトル      Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
 雑誌        Biochem Biophys Res Commun 164:990-6 (1989)
 DOI:10.1016/0006-291x(89)91767-1
 PMID:18680187 (OCA2, OCA3)
 著者        Chiang PW, Fulton AB, Spector E, Hisama FM
 タイトル      Synergistic interaction of the OCA2 and OCA3 genes in a family.
 雑誌        Am J Med Genet A 146A:2427-30 (2008)
 DOI:10.1002/ajmg.a.32453
 PMID:11574907 (OCA4)
 著者        Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH
 タイトル      Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
 雑誌        Am J Hum Genet 69:981-8 (2001)
 DOI:10.1086/324340
 PMID:23985994 (OCA6)
 著者        Morice-Picard F, Lasseaux E, Francois S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B
 タイトル      SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
 雑誌        J Invest Dermatol 134:568-571 (2014)
 DOI:10.1038/jid.2013.360
 PMID:23395477 (OCA7)
 著者        Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T
 タイトル      Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
 雑誌        Am J Hum Genet 92:415-21 (2013)
 DOI:10.1016/j.ajhg.2013.01.006
 PMID:33100333 (OCA8)
 著者        Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
 タイトル      Dopachrome tautomerase variants in patients with oculocutaneous albinism.
 雑誌        Genet Med 23:479-487 (2021)
 DOI:10.1038/s41436-020-00997-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00168"">H00168</a>",眼皮膚白皮症,"Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes.",,"(OCA1) TYR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7299"">7299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00505"">K00505</a>]
 (OCA2) OCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4948"">4948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24200"">K24200</a>]
 (OCA2) MC1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4157"">4157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04199"">K04199</a>]
 (OCA3) TYRP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7306"">7306</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00506"">K00506</a>]
 (OCA4) SLC45A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51151"">51151</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15378"">K15378</a>]
 (OCA6) SLC24A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283652"">283652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13753"">K13753</a>]
 (OCA7) LRMDA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83938"">83938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24399"">K24399</a>]
 (OCA8) DCT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1638"">1638</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01827"">K01827</a>]",,,,,"See also ocular albinism [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00169],"">H00169],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:restricted"">restricted</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenotypically"">phenotypically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ocular"">ocular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:involvement"">involvement</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:only."">only.</a>","ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016115"">D016115</a>
 OMIM: <a href=""https://www.omim.org/entry/203100"">203100</a> <a href=""https://www.omim.org/entry/606952"">606952</a> <a href=""https://www.omim.org/entry/203200"">203200</a> <a href=""https://www.omim.org/entry/203290"">203290</a> <a href=""https://www.omim.org/entry/606574"">606574</a> <a href=""https://www.omim.org/entry/113750"">113750</a> <a href=""https://www.omim.org/entry/615179"">615179</a> <a href=""https://www.omim.org/entry/619165"">619165</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17980020"">17980020</a>
 著者        Gronskov K, Ek J, Brondum-Nielsen K
 タイトル      Oculocutaneous albinism.
 雑誌        Orphanet J Rare Dis 2:43 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-43"">10.1186/1750-1172-2-43</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10094567"">10094567</a>
 著者        Oetting WS, King RA
 タイトル      Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
 雑誌        Hum Mutat 13:99-115 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1999)13:"">10.1002/(SICI)1098-1004(1999)13:</a><a href=""https://doi.org/2<99:"">2<99:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-C"">AID-HUMU2>3.0.CO;2-C</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2511845"">2511845</a> (OCA1)
 著者        Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S
 タイトル      Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
 雑誌        Biochem Biophys Res Commun 164:990-6 (1989)
 DOI:<a href=""https://doi.org/10.1016/0006-291x(89)91767-1"">10.1016/0006-291x(89)91767-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18680187"">18680187</a> (OCA2, <a href=""https://pubmed.ncbi.nlm.nih.gov/OCA3)"">OCA3)</a>
 著者        Chiang PW, Fulton AB, Spector E, Hisama FM
 タイトル      Synergistic interaction of the OCA2 and OCA3 genes in a family.
 雑誌        Am J Med Genet A 146A:2427-30 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32453"">10.1002/ajmg.a.32453</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11574907"">11574907</a> (OCA4)
 著者        Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH
 タイトル      Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
 雑誌        Am J Hum Genet 69:981-8 (2001)
 DOI:<a href=""https://doi.org/10.1086/324340"">10.1086/324340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23985994"">23985994</a> (OCA6)
 著者        Morice-Picard F, Lasseaux E, Francois S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B
 タイトル      SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
 雑誌        J Invest Dermatol 134:568-571 (2014)
 DOI:<a href=""https://doi.org/10.1038/jid.2013.360"">10.1038/jid.2013.360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23395477"">23395477</a> (OCA7)
 著者        Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T
 タイトル      Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
 雑誌        Am J Hum Genet 92:415-21 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.006"">10.1016/j.ajhg.2013.01.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33100333"">33100333</a> (OCA8)
 著者        Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
 タイトル      Dopachrome tautomerase variants in patients with oculocutaneous albinism.
 雑誌        Genet Med 23:479-487 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-00997-8"">10.1038/s41436-020-00997-8</a>"
H00169,"眼白子症;
 ワールデンブルグ症候群 II 型",,,"Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal recessive ocular albinism.",先天性代謝異常症,,"(OA1) GPR143 [HSA:4935] [KO:K08470]
 (WS2-OA) MITF [HSA:4286] [KO:K09455]",,,,,,"ICD-10: E70.3
 MeSH: D016117
 OMIM: 300500 103470","PMID:15254223
 著者        Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V
 タイトル      The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
 雑誌        Mol Cell Biol 24:6550-9 (2004)
 DOI:10.1128/MCB.24.15.6550-6559.2004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00169"">H00169</a>","眼白子症;
 ワールデンブルグ症候群 II 型","Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal recessive ocular albinism.",,"(OA1) GPR143 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4935"">4935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08470"">K08470</a>]
 (WS2-OA) MITF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4286"">4286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09455"">K09455</a>]",,,,,,"ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016117"">D016117</a>
 OMIM: <a href=""https://www.omim.org/entry/300500"">300500</a> <a href=""https://www.omim.org/entry/103470"">103470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15254223"">15254223</a>
 著者        Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V
 タイトル      The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
 雑誌        Mol Cell Biol 24:6550-9 (2004)
 DOI:<a href=""https://doi.org/10.1128/MCB.24.15.6550-6559.2004"">10.1128/MCB.24.15.6550-6559.2004</a>"
H00170,まだら症,,,"Piebaldism is caused by mutation of kit proto-oncogene, or snail 2 transcription factor, implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair.",先天性代謝異常症,,"KIT [HSA:3815] [KO:K05091]
 SNAI2 [HSA:6591] [KO:K05706]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 MeSH: D016116
 OMIM: 172800","PMID:15485525
 著者        Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA
 タイトル      Piebaldism: an update.
 雑誌        Int J Dermatol 43:716-9 (2004)
 DOI:10.1111/j.1365-4632.2004.02114.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00170"">H00170</a>",まだら症,"Piebaldism is caused by mutation of kit proto-oncogene, or snail 2 transcription factor, implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair.",,"KIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 SNAI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6591"">6591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05706"">K05706</a>]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016116"">D016116</a>
 OMIM: <a href=""https://www.omim.org/entry/172800"">172800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15485525"">15485525</a>
 著者        Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA
 タイトル      Piebaldism: an update.
 雑誌        Int J Dermatol 43:716-9 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2004.02114.x"">10.1111/j.1365-4632.2004.02114.x</a>"
H00171,ヒスチジン血症,,,Histidinemia is an autosomal recessive disorder resulting from histidase deficiency.,先天性代謝異常症,,HAL [HSA:3034] [KO:K01745],,,,,,"ICD-11: 5C50.20
 ICD-10: E70.8
 MeSH: C538320
 OMIM: 235800","PMID:15806399
 著者        Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M
 タイトル      Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
 雑誌        Hum Genet 116:340-6 (2005)
 DOI:10.1007/s00439-004-1232-5
 PMID:8463510
 著者        Virmani K, Widhalm K
 タイトル      Histidinemia: a biochemical variant or a disease?
 雑誌        J Am Coll Nutr 12:115-24 (1993)
 DOI:10.1080/07315724.1993.10718291
 PMID:1943682
 著者        Taylor RG, Levy HL, McInnes RR
 タイトル      Histidase and histidinemia. Clinical and molecular considerations.
 雑誌        Mol Biol Med 8:101-16 (1991)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00171"">H00171</a>",ヒスチジン血症,Histidinemia is an autosomal recessive disorder resulting from histidase deficiency.,,"HAL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3034"">3034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01745"">K01745</a>]",,,,,,"ICD-11: 5C50.20
 ICD-10: E70.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538320"">C538320</a>
 OMIM: <a href=""https://www.omim.org/entry/235800"">235800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15806399"">15806399</a>
 著者        Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M
 タイトル      Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
 雑誌        Hum Genet 116:340-6 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-004-1232-5"">10.1007/s00439-004-1232-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8463510"">8463510</a>
 著者        Virmani K, Widhalm K
 タイトル      Histidinemia: a biochemical variant or a disease?
 雑誌        J Am Coll Nutr 12:115-24 (1993)
 DOI:<a href=""https://doi.org/10.1080/07315724.1993.10718291"">10.1080/07315724.1993.10718291</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1943682"">1943682</a>
 著者        Taylor RG, Levy HL, McInnes RR
 タイトル      Histidase and histidinemia. Clinical and molecular considerations.
 雑誌        Mol Biol Med 8:101-16 (1991)"
H00172,"メープルシロップ尿症
 下位グループ    ジヒドロリポアミド脱水素酵素欠損症 [DS:H02000]",,,"Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Currently, there are effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing reduced BCAA contents.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation","(type Ia) BCKDHA [HSA:593] [KO:K00166]
 (type Ib) BCKDHB [HSA:594] [KO:K00167]
 (type II) DBT [HSA:1629] [KO:K09699]
 (type III) DLD [HSA:1738] [KO:K00382]
 (mild variant) PPM1K [HSA:152926] [KO:K17505]",,,,特殊粉乳 [DR:D08831],,"ICD-11: 5C50.D0
 ICD-10: E71.0
 MeSH: D008375
 OMIM: 248600 246900 615135","PMID:16365091 (therapy)
 著者        Chuang DT, Chuang JL, Wynn RM
 タイトル      Lessons from genetic disorders of branched-chain amino acid metabolism.
 雑誌        J Nutr 136:243S-9S (2006)
 DOI:10.1093/jn/136.1.243S
 PMID:9546032
 著者        Chuang DT
 タイトル      Maple syrup urine disease: it has come a long way.
 雑誌        J Pediatr 132:S17-23 (1998)
 DOI:10.1016/S0022-3476(98)70523-2
 PMID:9266218
 著者        Schadewaldt P, Wendel U
 タイトル      Metabolism of branched-chain amino acids in maple syrup urine disease.
 雑誌        Eur J Pediatr 156 Suppl 1:S62-6 (1997)
 DOI:10.1007/PL00014274
 PMID:23086801
 著者        Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P
 タイトル      A novel regulatory defect in the branched-chain alpha-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
 雑誌        Hum Mutat 34:355-62 (2013)
 DOI:10.1002/humu.22242","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00172"">H00172</a>","メープルシロップ尿症
 下位グループ    ジヒドロリポアミド脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02000"">H02000</a>]","Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Currently, there are effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing reduced BCAA contents.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","(type Ia) BCKDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:593"">593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00166"">K00166</a>]
 (type Ib) BCKDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:594"">594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00167"">K00167</a>]
 (type II) DBT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1629"">1629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09699"">K09699</a>]
 (type III) DLD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1738"">1738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00382"">K00382</a>]
 (mild variant) PPM1K [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:152926"">152926</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17505"">K17505</a>]",,,,"特殊粉乳 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08831"">D08831</a>]",,"ICD-11: 5C50.D0
 ICD-10: E71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008375"">D008375</a>
 OMIM: <a href=""https://www.omim.org/entry/248600"">248600</a> <a href=""https://www.omim.org/entry/246900"">246900</a> <a href=""https://www.omim.org/entry/615135"">615135</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16365091"">16365091</a> (therapy)
 著者        Chuang DT, Chuang JL, Wynn RM
 タイトル      Lessons from genetic disorders of branched-chain amino acid metabolism.
 雑誌        J Nutr 136:243S-9S (2006)
 DOI:<a href=""https://doi.org/10.1093/jn/136.1.243S"">10.1093/jn/136.1.243S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9546032"">9546032</a>
 著者        Chuang DT
 タイトル      Maple syrup urine disease: it has come a long way.
 雑誌        J Pediatr 132:S17-23 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(98)70523-2"">10.1016/S0022-3476(98)70523-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9266218"">9266218</a>
 著者        Schadewaldt P, Wendel U
 タイトル      Metabolism of branched-chain amino acids in maple syrup urine disease.
 雑誌        Eur J Pediatr 156 Suppl 1:S62-6 (1997)
 DOI:<a href=""https://doi.org/10.1007/PL00014274"">10.1007/PL00014274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23086801"">23086801</a>
 著者        Oyarzabal A, Martinez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodriguez-Pombo P
 タイトル      A novel regulatory defect in the branched-chain alpha-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
 雑誌        Hum Mutat 34:355-62 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22242"">10.1002/humu.22242</a>"
H00173,"イソ吉草酸血症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA.,先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",IVD [HSA:3712] [KO:K00253],,,,カルグルミン酸 [DR:D07130],,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C538167
 OMIM: 243500","PMID:16602101
 著者        Vockley J, Ensenauer R
 タイトル      Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
 雑誌        Am J Med Genet C Semin Med Genet 142C:95-103 (2006)
 DOI:10.1002/ajmg.c.30089
 PMID:15486829
 著者        Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
 タイトル      A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
 雑誌        Am J Hum Genet 75:1136-42 (2004)
 DOI:10.1086/426318","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00173"">H00173</a>","イソ吉草酸血症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]",Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA.,"<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","IVD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3712"">3712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00253"">K00253</a>]",,,,"カルグルミン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07130"">D07130</a>]",,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538167"">C538167</a>
 OMIM: <a href=""https://www.omim.org/entry/243500"">243500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602101"">16602101</a>
 著者        Vockley J, Ensenauer R
 タイトル      Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
 雑誌        Am J Med Genet C Semin Med Genet 142C:95-103 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30089"">10.1002/ajmg.c.30089</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15486829"">15486829</a>
 著者        Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
 タイトル      A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
 雑誌        Am J Hum Genet 75:1136-42 (2004)
 DOI:<a href=""https://doi.org/10.1086/426318"">10.1086/426318</a>"
H00174,"メチルマロン酸尿症;
 メチルマロン酸血症
 下位グループ    メチルマロン酸尿症 mut 型
 メチルマロン酸尿症 cblA 型
 メチルマロン酸尿症 cblB 型
 メチルマロニル CoA エピメラーゼ欠損症
 トランスコバラミンレセプター (TCblR) 欠損による一過性メチルマロン酸尿症
 メチルマロン酸尿症およびホモシスチン尿症 [DS:H02221]
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation","(mut) MMUT [HSA:4594] [KO:K01847]
 (cblA) MMAA [HSA:166785] [KO:K07588]
 (cblB) MMAB [HSA:326625] [KO:K00798]
 (cblC) MMACHC [HSA:25974] [KO:K14618]
 (cblC) PRDX1 [HSA:5052] [KO:K13279]
 (cblD) MMADHC [HSA:27249]
 (cblF) LMBRD1 [HSA:55788] [KO:K14617]
 (cblJ) ABCD4 [HSA:5826] [KO:K05678]
 (cblX) HCFC1 [HSA:3054] [KO:K14966]
 (TCblR) CD320 [HSA:51293] [KO:K06734]
 (MCE) MCEE [HSA:84693] [KO:K05606]",,,,カルグルミン酸 [DR:D07130],,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C565390 C537360 C537361
 OMIM: 251000 251100 251110 277400 277410 277380 614857 309541 613646 251120","PMID:16602092
 著者        Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
 タイトル      Methylmalonic and propionic aciduria.
 雑誌        Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
 DOI:10.1002/ajmg.c.30090
 PMID:12069539
 著者        Ogier de Baulny H, Saudubray JM
 タイトル      Branched-chain organic acidurias.
 雑誌        Semin Neonatol 7:65-74 (2002)
 DOI:10.1053/siny.2001.0087
 PMID:1977311 (MMUT)
 著者        Jansen R, Ledley FD
 タイトル      Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
 雑誌        Am J Hum Genet 47:808-14 (1990)
 PMID:12438653 (MMAA)
 著者        Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA
 タイトル      Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
 雑誌        Proc Natl Acad Sci U S A 99:15554-9 (2002)
 DOI:10.1073/pnas.242614799
 PMID:12471062 (MMAB)
 著者        Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA
 タイトル      Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
 雑誌        Hum Mol Genet 11:3361-9 (2002)
 DOI:10.1093/hmg/11.26.3361
 PMID:16311595 (MMACHC)
 著者        Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS
 タイトル      Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
 雑誌        Nat Genet 38:93-100 (2006)
 DOI:10.1038/ng1683
 PMID:29302025 (PRDX1)
 著者        Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS
 タイトル      APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
 雑誌        Nat Commun 9:67 (2018)
 DOI:10.1038/s41467-017-02306-5
 PMID:18385497 (MMADHC)
 著者        Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B
 タイトル      Gene identification for the cblD defect of vitamin B12 metabolism.
 雑誌        N Engl J Med 358:1454-64 (2008)
 DOI:10.1056/NEJMoa072200
 PMID:19136951 (LMBRD1)
 著者        Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P
 タイトル      Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
 雑誌        Nat Genet 41:234-9 (2009)
 DOI:10.1038/ng.294
 PMID:22922874 (ABCD4)
 著者        Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
 タイトル      Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
 雑誌        Nat Genet 44:1152-5 (2012)
 DOI:10.1038/ng.2386
 PMID:24011988 (HCFC1)
 著者        Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH
 タイトル      An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
 雑誌        Am J Hum Genet 93:506-14 (2013)
 DOI:10.1016/j.ajhg.2013.07.022
 PMID:20524213 (CD320)
 著者        Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS
 タイトル      Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
 雑誌        Hum Mutat 31:924-9 (2010)
 DOI:10.1002/humu.21297
 PMID:16752391 (MCEE)
 著者        Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M
 タイトル      A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
 雑誌        Hum Mutat 27:640-3 (2006)
 DOI:10.1002/humu.20373","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00174"">H00174</a>","メチルマロン酸尿症;
 メチルマロン酸血症
 下位グループ    メチルマロン酸尿症 mut 型
 メチルマロン酸尿症 cblA 型
 メチルマロン酸尿症 cblB 型
 メチルマロニル CoA エピメラーゼ欠損症
 トランスコバラミンレセプター (TCblR) 欠損による一過性メチルマロン酸尿症
 メチルマロン酸尿症およびホモシスチン尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02221"">H02221</a>]
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","(mut) MMUT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4594"">4594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01847"">K01847</a>]
 (cblA) MMAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:166785"">166785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07588"">K07588</a>]
 (cblB) MMAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:326625"">326625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00798"">K00798</a>]
 (cblC) MMACHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25974"">25974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14618"">K14618</a>]
 (cblC) PRDX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5052"">5052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13279"">K13279</a>]
 (cblD) MMADHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27249"">27249</a>]
 (cblF) LMBRD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55788"">55788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14617"">K14617</a>]
 (cblJ) ABCD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5826"">5826</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05678"">K05678</a>]
 (cblX) HCFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3054"">3054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14966"">K14966</a>]
 (TCblR) CD320 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51293"">51293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06734"">K06734</a>]
 (MCE) MCEE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84693"">84693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05606"">K05606</a>]",,,,"カルグルミン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07130"">D07130</a>]",,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565390"">C565390</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537360"">C537360</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537361"">C537361</a>
 OMIM: <a href=""https://www.omim.org/entry/251000"">251000</a> <a href=""https://www.omim.org/entry/251100"">251100</a> <a href=""https://www.omim.org/entry/251110"">251110</a> <a href=""https://www.omim.org/entry/277400"">277400</a> <a href=""https://www.omim.org/entry/277410"">277410</a> <a href=""https://www.omim.org/entry/277380"">277380</a> <a href=""https://www.omim.org/entry/614857"">614857</a> <a href=""https://www.omim.org/entry/309541"">309541</a> <a href=""https://www.omim.org/entry/613646"">613646</a> <a href=""https://www.omim.org/entry/251120"">251120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602092"">16602092</a>
 著者        Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
 タイトル      Methylmalonic and propionic aciduria.
 雑誌        Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30090"">10.1002/ajmg.c.30090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12069539"">12069539</a>
 著者        Ogier de Baulny H, Saudubray JM
 タイトル      Branched-chain organic acidurias.
 雑誌        Semin Neonatol 7:65-74 (2002)
 DOI:<a href=""https://doi.org/10.1053/siny.2001.0087"">10.1053/siny.2001.0087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1977311"">1977311</a> (MMUT)
 著者        Jansen R, Ledley FD
 タイトル      Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
 雑誌        Am J Hum Genet 47:808-14 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12438653"">12438653</a> (MMAA)
 著者        Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA
 タイトル      Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
 雑誌        Proc Natl Acad Sci U S A 99:15554-9 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.242614799"">10.1073/pnas.242614799</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12471062"">12471062</a> (MMAB)
 著者        Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA
 タイトル      Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
 雑誌        Hum Mol Genet 11:3361-9 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.26.3361"">10.1093/hmg/11.26.3361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16311595"">16311595</a> (MMACHC)
 著者        Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS
 タイトル      Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
 雑誌        Nat Genet 38:93-100 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1683"">10.1038/ng1683</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29302025"">29302025</a> (PRDX1)
 著者        Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS
 タイトル      APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
 雑誌        Nat Commun 9:67 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41467-017-02306-5"">10.1038/s41467-017-02306-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18385497"">18385497</a> (MMADHC)
 著者        Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B
 タイトル      Gene identification for the cblD defect of vitamin B12 metabolism.
 雑誌        N Engl J Med 358:1454-64 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa072200"">10.1056/NEJMoa072200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19136951"">19136951</a> (LMBRD1)
 著者        Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P
 タイトル      Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
 雑誌        Nat Genet 41:234-9 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.294"">10.1038/ng.294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22922874"">22922874</a> (ABCD4)
 著者        Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
 タイトル      Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
 雑誌        Nat Genet 44:1152-5 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2386"">10.1038/ng.2386</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24011988"">24011988</a> (HCFC1)
 著者        Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH
 タイトル      An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
 雑誌        Am J Hum Genet 93:506-14 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.022"">10.1016/j.ajhg.2013.07.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20524213"">20524213</a> (CD320)
 著者        Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS
 タイトル      Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
 雑誌        Hum Mutat 31:924-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21297"">10.1002/humu.21297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16752391"">16752391</a> (MCEE)
 著者        Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M
 タイトル      A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
 雑誌        Hum Mutat 27:640-3 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20373"">10.1002/humu.20373</a>"
H00175,"プロピオン酸血症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.,先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation","PCCA [HSA:5095] [KO:K01965]
 PCCB [HSA:5096] [KO:K01966]",,,,カルグルミン酸 [DR:D07130],,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: D056693
 OMIM: 606054","PMID:17951291
 著者        Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G
 タイトル      Metabolomics identifies perturbations in human disorders of propionate metabolism.
 雑誌        Clin Chem 53:2169-76 (2007)
 DOI:10.1373/clinchem.2007.089011
 PMID:16602092
 著者        Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
 タイトル      Methylmalonic and propionic aciduria.
 雑誌        Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
 DOI:10.1002/ajmg.c.30090
 PMID:12069539
 著者        Ogier de Baulny H, Saudubray JM
 タイトル      Branched-chain organic acidurias.
 雑誌        Semin Neonatol 7:65-74 (2002)
 DOI:10.1053/siny.2001.0087","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00175"">H00175</a>","プロピオン酸血症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]",Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.,"<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","PCCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5095"">5095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01965"">K01965</a>]
 PCCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5096"">5096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01966"">K01966</a>]",,,,"カルグルミン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07130"">D07130</a>]",,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056693"">D056693</a>
 OMIM: <a href=""https://www.omim.org/entry/606054"">606054</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17951291"">17951291</a>
 著者        Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G
 タイトル      Metabolomics identifies perturbations in human disorders of propionate metabolism.
 雑誌        Clin Chem 53:2169-76 (2007)
 DOI:<a href=""https://doi.org/10.1373/clinchem.2007.089011"">10.1373/clinchem.2007.089011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602092"">16602092</a>
 著者        Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C
 タイトル      Methylmalonic and propionic aciduria.
 雑誌        Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30090"">10.1002/ajmg.c.30090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12069539"">12069539</a>
 著者        Ogier de Baulny H, Saudubray JM
 タイトル      Branched-chain organic acidurias.
 雑誌        Semin Neonatol 7:65-74 (2002)
 DOI:<a href=""https://doi.org/10.1053/siny.2001.0087"">10.1053/siny.2001.0087</a>"
H00176,"副腎白質ジストロフィー
 下位グループ    アジソン・シルダー病
 小児大脳型副腎白質ジストロフィー (CCALD)
 副腎脊髄神経障害 (AMN)",,,"Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit.",先天性代謝異常症; ペルオキシソーム病,,ABCD1 [HSA:215] [KO:K05675],,,,,"Childhood CER: Onset at 3-10 years of age.
 AMN: Onset 11-21 years of age.
 Addison-only: Onset common before 7.5 years.","ICD-11: 8A44.1 5C57.1
 ICD-10: E71.3
 MeSH: D000326
 OMIM: 300100","PMID:17342190
 著者        Moser HW, Mahmood A, Raymond GV
 タイトル      X-linked adrenoleukodystrophy.
 雑誌        Nat Clin Pract Neurol 3:140-51 (2007)
 DOI:10.1038/ncpneuro0421
 PMID:15167059
 著者        Moser H, Dubey P, Fatemi A
 タイトル      Progress in X-linked adrenoleukodystrophy.
 雑誌        Curr Opin Neurol 17:263-9 (2004)
 DOI:10.1097/00019052-200406000-00005
 PMID:17092750
 著者        Kemp S, Wanders RJ
 タイトル      X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
 雑誌        Mol Genet Metab 90:268-76 (2007)
 DOI:10.1016/j.ymgme.2006.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00176"">H00176</a>","副腎白質ジストロフィー
 下位グループ    アジソン・シルダー病
 小児大脳型副腎白質ジストロフィー (CCALD)
 副腎脊髄神経障害 (AMN)","Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit.",,"ABCD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:215"">215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05675"">K05675</a>]",,,,,"Childhood CER: Onset at 3-10 years of age.
 AMN: Onset 11-21 years of age.
 Addison-only: Onset common before 7.5 years.","ICD-11: 8A44.1 5C57.1
 ICD-10: E71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000326"">D000326</a>
 OMIM: <a href=""https://www.omim.org/entry/300100"">300100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17342190"">17342190</a>
 著者        Moser HW, Mahmood A, Raymond GV
 タイトル      X-linked adrenoleukodystrophy.
 雑誌        Nat Clin Pract Neurol 3:140-51 (2007)
 DOI:<a href=""https://doi.org/10.1038/ncpneuro0421"">10.1038/ncpneuro0421</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15167059"">15167059</a>
 著者        Moser H, Dubey P, Fatemi A
 タイトル      Progress in X-linked adrenoleukodystrophy.
 雑誌        Curr Opin Neurol 17:263-9 (2004)
 DOI:<a href=""https://doi.org/10.1097/00019052-200406000-00005"">10.1097/00019052-200406000-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17092750"">17092750</a>
 著者        Kemp S, Wanders RJ
 タイトル      X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
 雑誌        Mol Genet Metab 90:268-76 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.10.001"">10.1016/j.ymgme.2006.10.001</a>"
H00177,"新生児型副腎白質ジストロフィー
 下位グループ    乳児レフスム病
 上位グループ    ペルオキシソーム形成異常症 [DS:H00205]",,,"The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment.",先天性代謝異常症; ペルオキシソーム病,,"(PBD1B) PEX1 [HSA:5189] [KO:K13338]
 (PBD2B) PEX5 [HSA:5830] [KO:K13342]
 (PBD3B) PEX12 [HSA:5193] [KO:K13345]
 (PBD4B) PEX6 [HSA:5190] [KO:K13339]
 (PBD5B) PEX2 [HSA:5828] [KO:K06664]
 (PBD6B) PEX10 [HSA:5192] [KO:K13346]
 (PBD7B) PEX26 [HSA:55670] [KO:K13340]
 (PBD8B) PEX16 [HSA:9409] [KO:K13335]
 (PBD9B) PEX7 [HSA:5191] [KO:K13341]
 (PBD10B) PEX3 [HSA:8504] [KO:K13336]
 (PBD14B) PEX11B [HSA:8799] [KO:K13352]",,,,,"For Refsum disease, see [DS:H00075]","ICD-11: 5A74.Y 5C57.0
 ICD-10: E71.3
 MeSH: D018901
 OMIM: 601539 202370 266510 614863 614867 614871 614873 614877 614879 617370 614920","PMID:22871920
 著者        Waterham HR, Ebberink MS
 タイトル      Genetics and molecular basis of human peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1822:1430-41 (2012)
 DOI:10.1016/j.bbadis.2012.04.006
 PMID:11389485 (PEX1)
 著者        Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
 タイトル      Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
 雑誌        Am J Hum Genet 69:35-48 (2001)
 DOI:10.1086/321265
 PMID:7719337 (PEX5)
 著者        Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ
 タイトル      Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
 雑誌        Nat Genet 9:115-25 (1995)
 DOI:10.1038/ng0295-115
 PMID:14571262 (PEX12)
 著者        Gootjes J, Schmohl F, Waterham HR, Wanders RJ
 タイトル      Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
 雑誌        Eur J Hum Genet 12:115-20 (2004)
 DOI:10.1038/sj.ejhg.5201090
 PMID:29220678 (PEX6)
 著者        Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schluter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Korver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR
 タイトル      Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
 雑誌        Am J Hum Genet 101:965-976 (2017)
 DOI:10.1016/j.ajhg.2017.11.007
 PMID:23430938 (PEX2)
 著者        Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A
 タイトル      Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
 雑誌        JIMD Rep 6:43-6 (2012)
 DOI:10.1007/8904_2011_102
 PMID:28784167 (PEX10)
 著者        Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J
 タイトル      Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
 雑誌        J Med Case Rep 11:218 (2017)
 DOI:10.1186/s13256-017-1365-5
 PMID:12851857 (PEX26)
 著者        Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
 雑誌        Am J Hum Genet 73:233-46 (2003)
 DOI:10.1086/377004
 PMID:20647552 (PEX16)
 著者        Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S
 タイトル      Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
 雑誌        J Med Genet 47:608-15 (2010)
 DOI:10.1136/jmg.2009.074302
 PMID:12522768 (PEX7)
 著者        van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ
 タイトル      Identification of PEX7 as the second gene involved in Refsum disease.
 雑誌        Am J Hum Genet 72:471-7 (2003)
 DOI:10.1086/346093
 PMID:27557811 (PEX3)
 著者        Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR
 タイトル      Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
 雑誌        JIMD Rep 34:71-75 (2017)
 DOI:10.1007/8904_2016_10
 PMID:22581968 (PEX11B)
 著者        Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR
 タイトル      A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene.
 雑誌        J Med Genet 49:307-13 (2012)
 DOI:10.1136/jmedgenet-2012-100778","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00177"">H00177</a>","新生児型副腎白質ジストロフィー
 下位グループ    乳児レフスム病
 上位グループ    ペルオキシソーム形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]","The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment.",,"(PBD1B) PEX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5189"">5189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13338"">K13338</a>]
 (PBD2B) PEX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5830"">5830</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13342"">K13342</a>]
 (PBD3B) PEX12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5193"">5193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13345"">K13345</a>]
 (PBD4B) PEX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5190"">5190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13339"">K13339</a>]
 (PBD5B) PEX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5828"">5828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06664"">K06664</a>]
 (PBD6B) PEX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5192"">5192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13346"">K13346</a>]
 (PBD7B) PEX26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55670"">55670</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13340"">K13340</a>]
 (PBD8B) PEX16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9409"">9409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13335"">K13335</a>]
 (PBD9B) PEX7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5191"">5191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13341"">K13341</a>]
 (PBD10B) PEX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8504"">8504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13336"">K13336</a>]
 (PBD14B) PEX11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8799"">8799</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13352"">K13352</a>]",,,,,"For Refsum disease, see [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00075"">H00075</a>]","ICD-11: 5A74.Y 5C57.0
 ICD-10: E71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018901"">D018901</a>
 OMIM: <a href=""https://www.omim.org/entry/601539"">601539</a> <a href=""https://www.omim.org/entry/202370"">202370</a> <a href=""https://www.omim.org/entry/266510"">266510</a> <a href=""https://www.omim.org/entry/614863"">614863</a> <a href=""https://www.omim.org/entry/614867"">614867</a> <a href=""https://www.omim.org/entry/614871"">614871</a> <a href=""https://www.omim.org/entry/614873"">614873</a> <a href=""https://www.omim.org/entry/614877"">614877</a> <a href=""https://www.omim.org/entry/614879"">614879</a> <a href=""https://www.omim.org/entry/617370"">617370</a> <a href=""https://www.omim.org/entry/614920"">614920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22871920"">22871920</a>
 著者        Waterham HR, Ebberink MS
 タイトル      Genetics and molecular basis of human peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1822:1430-41 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2012.04.006"">10.1016/j.bbadis.2012.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11389485"">11389485</a> (PEX1)
 著者        Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
 タイトル      Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
 雑誌        Am J Hum Genet 69:35-48 (2001)
 DOI:<a href=""https://doi.org/10.1086/321265"">10.1086/321265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7719337"">7719337</a> (PEX5)
 著者        Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ
 タイトル      Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
 雑誌        Nat Genet 9:115-25 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0295-115"">10.1038/ng0295-115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14571262"">14571262</a> (PEX12)
 著者        Gootjes J, Schmohl F, Waterham HR, Wanders RJ
 タイトル      Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
 雑誌        Eur J Hum Genet 12:115-20 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201090"">10.1038/sj.ejhg.5201090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29220678"">29220678</a> (PEX6)
 著者        Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schluter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Korver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR
 タイトル      Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
 雑誌        Am J Hum Genet 101:965-976 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.11.007"">10.1016/j.ajhg.2017.11.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430938"">23430938</a> (PEX2)
 著者        Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A
 タイトル      Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
 雑誌        JIMD Rep 6:43-6 (2012)
 DOI:<a href=""https://doi.org/10.1007/8904_2011_102"">10.1007/8904_2011_102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28784167"">28784167</a> (PEX10)
 著者        Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J
 タイトル      Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
 雑誌        J Med Case Rep 11:218 (2017)
 DOI:<a href=""https://doi.org/10.1186/s13256-017-1365-5"">10.1186/s13256-017-1365-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12851857"">12851857</a> (PEX26)
 著者        Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
 雑誌        Am J Hum Genet 73:233-46 (2003)
 DOI:<a href=""https://doi.org/10.1086/377004"">10.1086/377004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20647552"">20647552</a> (PEX16)
 著者        Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S
 タイトル      Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
 雑誌        J Med Genet 47:608-15 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.074302"">10.1136/jmg.2009.074302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12522768"">12522768</a> (PEX7)
 著者        van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ
 タイトル      Identification of PEX7 as the second gene involved in Refsum disease.
 雑誌        Am J Hum Genet 72:471-7 (2003)
 DOI:<a href=""https://doi.org/10.1086/346093"">10.1086/346093</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27557811"">27557811</a> (PEX3)
 著者        Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR
 タイトル      Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
 雑誌        JIMD Rep 34:71-75 (2017)
 DOI:<a href=""https://doi.org/10.1007/8904_2016_10"">10.1007/8904_2016_10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22581968"">22581968</a> (PEX11B)
 著者        Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR
 タイトル      A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene.
 雑誌        J Med Genet 49:307-13 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100778"">10.1136/jmedgenet-2012-100778</a>"
H00178,"グルタル酸血症
 下位グループ    グルタリルCoA 脱水素酵素欠損症 (GA1)
 複合アシルCoA 脱水素酵素欠損症 (GA2/MADD)
 グルタリルCoA 酸化酵素欠損症 (GA3)
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. Glutaric aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.",先天性代謝異常症,,"(GA1) GCDH [HSA:2639] [KO:K00252]
 (GA2) ETFA [HSA:2108] [KO:K03522]
 (GA2) ETFB [HSA:2109] [KO:K03521]
 (GA2) ETFDH [HSA:2110] [KO:K00311]
 (GA3) SUGCT [HSA:79783] [KO:K18703]",,,,,,"ICD-11: 5C50.E1
 ICD-10: E71.3 E72.3
 MeSH: D054069 C536833
 OMIM: 231670 231680 231690","PMID:16368216
 著者        Gordon N
 タイトル      Glutaric aciduria types I and II.
 雑誌        Brain Dev 28:136-40 (2006)
 DOI:10.1016/j.braindev.2005.06.010
 PMID:10960496 (GCDH)
 著者        Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A
 タイトル      Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
 雑誌        Pediatr Res 48:315-22 (2000)
 DOI:10.1203/00006450-200009000-00009
 PMID:8617498 (ETFA, ETFB, ETFDH)
 著者        White RA, Dowler LL, Angeloni SV, Koeller DM
 タイトル      Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
 雑誌        Genomics 33:131-4 (1996)
 DOI:10.1006/geno.1996.0170
 PMID:23893049 (SUGCT)
 著者        Marlaire S, Van Schaftingen E, Veiga-da-Cunha M
 タイトル      C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
 雑誌        J Inherit Metab Dis 37:13-9 (2014)
 DOI:10.1007/s10545-013-9632-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00178"">H00178</a>","グルタル酸血症
 下位グループ    グルタリルCoA 脱水素酵素欠損症 (GA1)
 複合アシルCoA 脱水素酵素欠損症 (GA2/MADD)
 グルタリルCoA 酸化酵素欠損症 (GA3)
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. Glutaric aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.",,"(GA1) GCDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2639"">2639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00252"">K00252</a>]
 (GA2) ETFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2108"">2108</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03522"">K03522</a>]
 (GA2) ETFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2109"">2109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03521"">K03521</a>]
 (GA2) ETFDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2110"">2110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00311"">K00311</a>]
 (GA3) SUGCT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79783"">79783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18703"">K18703</a>]",,,,,,"ICD-11: 5C50.E1
 ICD-10: E71.3 E72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054069"">D054069</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536833"">C536833</a>
 OMIM: <a href=""https://www.omim.org/entry/231670"">231670</a> <a href=""https://www.omim.org/entry/231680"">231680</a> <a href=""https://www.omim.org/entry/231690"">231690</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16368216"">16368216</a>
 著者        Gordon N
 タイトル      Glutaric aciduria types I and II.
 雑誌        Brain Dev 28:136-40 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2005.06.010"">10.1016/j.braindev.2005.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10960496"">10960496</a> (GCDH)
 著者        Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A
 タイトル      Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
 雑誌        Pediatr Res 48:315-22 (2000)
 DOI:<a href=""https://doi.org/10.1203/00006450-200009000-00009"">10.1203/00006450-200009000-00009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8617498"">8617498</a> (ETFA, <a href=""https://pubmed.ncbi.nlm.nih.gov/ETFB,"">ETFB,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ETFDH)"">ETFDH)</a>
 著者        White RA, Dowler LL, Angeloni SV, Koeller DM
 タイトル      Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
 雑誌        Genomics 33:131-4 (1996)
 DOI:<a href=""https://doi.org/10.1006/geno.1996.0170"">10.1006/geno.1996.0170</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23893049"">23893049</a> (SUGCT)
 著者        Marlaire S, Van Schaftingen E, Veiga-da-Cunha M
 タイトル      C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
 雑誌        J Inherit Metab Dis 37:13-9 (2014)
 DOI:<a href=""https://doi.org/10.1007/s10545-013-9632-0"">10.1007/s10545-013-9632-0</a>"
H00179,3-ヒドロキシ-3-メチルグルタリルCoAリアーゼ欠損症,,,"3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",HMGCL [HSA:3155] [KO:K01640],,,,,,"ICD-11: 5C52.02
 ICD-10: E71.1
 MeSH: C538324
 OMIM: 246450","PMID:17692550
 著者        Pie J, Lopez-Vinas E, Puisac B, Menao S, Pie A, Casale C, Ramos FJ, Hegardt FG, Gomez-Puertas P, Casals N
 タイトル      Molecular genetics of HMG-CoA lyase deficiency.
 雑誌        Mol Genet Metab 92:198-209 (2007)
 DOI:10.1016/j.ymgme.2007.06.020
 PMID:10371384
 著者        Yalcinkaya C, Dincer A, Gunduz E, Ficicioglu C, Kocer N, Aydin A
 タイトル      MRI and MRS in HMG-CoA lyase deficiency.
 雑誌        Pediatr Neurol 20:375-80 (1999)
 DOI:10.1016/S0887-8994(99)00013-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00179"">H00179</a>",3-ヒドロキシ-3-メチルグルタリルCoAリアーゼ欠損症,"3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","HMGCL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3155"">3155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01640"">K01640</a>]",,,,,,"ICD-11: 5C52.02
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538324"">C538324</a>
 OMIM: <a href=""https://www.omim.org/entry/246450"">246450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17692550"">17692550</a>
 著者        Pie J, Lopez-Vinas E, Puisac B, Menao S, Pie A, Casale C, Ramos FJ, Hegardt FG, Gomez-Puertas P, Casals N
 タイトル      Molecular genetics of HMG-CoA lyase deficiency.
 雑誌        Mol Genet Metab 92:198-209 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2007.06.020"">10.1016/j.ymgme.2007.06.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10371384"">10371384</a>
 著者        Yalcinkaya C, Dincer A, Gunduz E, Ficicioglu C, Kocer N, Aydin A
 タイトル      MRI and MRS in HMG-CoA lyase deficiency.
 雑誌        Pediatr Neurol 20:375-80 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0887-8994(99)00013-2"">10.1016/S0887-8994(99)00013-2</a>"
H00180,"ホロカルボキシラーゼ合成酵素欠損症;
 複合カルボキシラーゼ欠損症",,,"Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple carboxylase deficiency, because deficient HLCS activity results in reduced activity of multiple carboxylases. In humans, four carboxylases are known to be biotinylated by HLCS. They are pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis, a characteristic organic aciduria, lethargy, hypotonia, convulsions, and dermatitis.",先天性代謝異常症,,HLCS [HSA:3141] [KO:K01942],,,,,,"ICD-11: 5C50.E0
 ICD-10: E53.8
 MeSH: D028922
 OMIM: 253270","PMID:16134170
 著者        Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y
 タイトル      Mutations in the holocarboxylase synthetase gene HLCS.
 雑誌        Hum Mutat 26:285-90 (2005)
 DOI:10.1002/humu.20204
 PMID:12459313
 著者        Pacheco-Alvarez D, Solorzano-Vargas RS, Del Rio AL
 タイトル      Biotin in metabolism and its relationship to human disease.
 雑誌        Arch Med Res 33:439-47 (2002)
 DOI:10.1016/S0188-4409(02)00399-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00180"">H00180</a>","ホロカルボキシラーゼ合成酵素欠損症;
 複合カルボキシラーゼ欠損症","Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple carboxylase deficiency, because deficient HLCS activity results in reduced activity of multiple carboxylases. In humans, four carboxylases are known to be biotinylated by HLCS. They are pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis, a characteristic organic aciduria, lethargy, hypotonia, convulsions, and dermatitis.",,"HLCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3141"">3141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01942"">K01942</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E53.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D028922"">D028922</a>
 OMIM: <a href=""https://www.omim.org/entry/253270"">253270</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16134170"">16134170</a>
 著者        Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y
 タイトル      Mutations in the holocarboxylase synthetase gene HLCS.
 雑誌        Hum Mutat 26:285-90 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20204"">10.1002/humu.20204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12459313"">12459313</a>
 著者        Pacheco-Alvarez D, Solorzano-Vargas RS, Del Rio AL
 タイトル      Biotin in metabolism and its relationship to human disease.
 雑誌        Arch Med Res 33:439-47 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0188-4409(02)00399-5"">10.1016/S0188-4409(02)00399-5</a>"
H00181,"3-メチルクロトニルグリシン尿症;
 3-メチルクロトニル-CoA カルポキシラーゼ欠損症",,,3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.,先天代謝異常症,"nt06024  Valine, leucine and isoleucine degradation","MCCC1; 3-methylcrotonyl-CoA carboxylase alpha subunit [HSA:56922] [KO:K01968]
 MCCC2; 3-methylcrotonyl-CoA carboxylase beta subunit [HSA:64087] [KO:K01969]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C535308 C535309
 OMIM: 210200 210210","PMID:16010683
 著者        Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR
 タイトル      3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
 雑誌        Hum Mutat 26:164 (2005)
 DOI:10.1002/humu.9352
 PMID:15868465
 著者        Baumgartner MR
 タイトル      Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
 雑誌        J Inherit Metab Dis 28:301-9 (2005)
 DOI:10.1007/s10545-005-7054-3
 PMID:11181649
 著者        Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D
 タイトル      The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
 雑誌        J Clin Invest 107:495-504 (2001)
 DOI:10.1172/JCI11948","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00181"">H00181</a>","3-メチルクロトニルグリシン尿症;
 3-メチルクロトニル-CoA カルポキシラーゼ欠損症",3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.,"<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","MCCC1; 3-methylcrotonyl-CoA carboxylase alpha subunit [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56922"">56922</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01968"">K01968</a>]
 MCCC2; 3-methylcrotonyl-CoA carboxylase beta subunit [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64087"">64087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01969"">K01969</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535308"">C535308</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535309"">C535309</a>
 OMIM: <a href=""https://www.omim.org/entry/210200"">210200</a> <a href=""https://www.omim.org/entry/210210"">210210</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16010683"">16010683</a>
 著者        Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR
 タイトル      3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
 雑誌        Hum Mutat 26:164 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.9352"">10.1002/humu.9352</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15868465"">15868465</a>
 著者        Baumgartner MR
 タイトル      Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
 雑誌        J Inherit Metab Dis 28:301-9 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10545-005-7054-3"">10.1007/s10545-005-7054-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11181649"">11181649</a>
 著者        Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D
 タイトル      The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
 雑誌        J Clin Invest 107:495-504 (2001)
 DOI:<a href=""https://doi.org/10.1172/JCI11948"">10.1172/JCI11948</a>"
H00182,シスタチオニン尿症,,,"Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia.",先天性代謝異常症,,CTH [HSA:1491] [KO:K01758],,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: C535408
 OMIM: 219500","PMID:16702350
 著者        Finkelstein JD
 タイトル      Inborn errors of sulfur-containing amino acid metabolism.
 雑誌        J Nutr 136:1750S-1754S (2006)
 DOI:10.1093/jn/136.6.1750S
 PMID:12574942
 著者        Wang J, Hegele RA
 タイトル      Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
 雑誌        Hum Genet 112:404-8 (2003)
 DOI:10.1007/s00439-003-0906-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00182"">H00182</a>",シスタチオニン尿症,"Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia.",,"CTH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1491"">1491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01758"">K01758</a>]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535408"">C535408</a>
 OMIM: <a href=""https://www.omim.org/entry/219500"">219500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16702350"">16702350</a>
 著者        Finkelstein JD
 タイトル      Inborn errors of sulfur-containing amino acid metabolism.
 雑誌        J Nutr 136:1750S-1754S (2006)
 DOI:<a href=""https://doi.org/10.1093/jn/136.6.1750S"">10.1093/jn/136.6.1750S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12574942"">12574942</a>
 著者        Wang J, Hegele RA
 タイトル      Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
 雑誌        Hum Genet 112:404-8 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00439-003-0906-8"">10.1007/s00439-003-0906-8</a>"
H00183,ホモシスチン尿症,,,"Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.",先天性代謝異常症,,"CBS [HSA:875] [KO:K01697]
 MTRR [HSA:4552] [KO:K00597]
 MTHFR [HSA:4524] [KO:K25004]",,,,ベタイン [DR:D07523],,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: D006712
 OMIM: 236200 236270 236250","PMID:10338090
 著者        Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M
 タイトル      Cystathionine beta-synthase mutations in homocystinuria.
 雑誌        Hum Mutat 13:362-75 (1999)
 DOI:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
 PMID:14739681 (CBS)
 著者        Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V
 タイトル      Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
 雑誌        J Inherit Metab Dis 26:761-73 (2003)
 DOI:10.1023/B:BOLI.0000009963.88420.c2
 PMID:23430521 (MTRR)
 著者        Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R
 タイトル      cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.
 雑誌        JIMD Rep 8:57-62 (2013)
 DOI:10.1007/8904_2012_161
 PMID:9781030 (MTHFR)
 著者        Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ
 タイトル      Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
 雑誌        Eur J Hum Genet 6:257-65 (1998)
 DOI:10.1038/sj.ejhg.5200182","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00183"">H00183</a>",ホモシスチン尿症,"Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.",,"CBS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:875"">875</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01697"">K01697</a>]
 MTRR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4552"">4552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00597"">K00597</a>]
 MTHFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4524"">4524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25004"">K25004</a>]",,,,"ベタイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07523"">D07523</a>]",,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006712"">D006712</a>
 OMIM: <a href=""https://www.omim.org/entry/236200"">236200</a> <a href=""https://www.omim.org/entry/236270"">236270</a> <a href=""https://www.omim.org/entry/236250"">236250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10338090"">10338090</a>
 著者        Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M
 タイトル      Cystathionine beta-synthase mutations in homocystinuria.
 雑誌        Hum Mutat 13:362-75 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1999)13:"">10.1002/(SICI)1098-1004(1999)13:</a><a href=""https://doi.org/5<362:"">5<362:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU4>3.0.CO;2-K"">AID-HUMU4>3.0.CO;2-K</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14739681"">14739681</a> (CBS)
 著者        Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V
 タイトル      Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
 雑誌        J Inherit Metab Dis 26:761-73 (2003)
 DOI:<a href=""https://doi.org/10.1023/B:"">10.1023/B:</a><a href=""https://doi.org/BOLI.0000009963.88420.c2"">BOLI.0000009963.88420.c2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430521"">23430521</a> (MTRR)
 著者        Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R
 タイトル      cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.
 雑誌        JIMD Rep 8:57-62 (2013)
 DOI:<a href=""https://doi.org/10.1007/8904_2012_161"">10.1007/8904_2012_161</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9781030"">9781030</a> (MTHFR)
 著者        Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ
 タイトル      Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
 雑誌        Eur J Hum Genet 6:257-65 (1998)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200182"">10.1038/sj.ejhg.5200182</a>"
H00184,"高メチオニン血症
 下位グループ    メチオニンアデノシルトランスフェラーゼ欠損症
 アデノシルホモシステイン加水分解酵素欠損症
 アデノシンキナーゼ欠損症",,,Hypermethioninemia is an inborn error of methionine metabolism.,先天性代謝異常症,,"MAT1A [HSA:4143] [KO:K00789]
 AHCY [HSA:191] [KO:K01251]
 GNMT [HSA:27232] [KO:K00552]
 ADK [HSA:132] [KO:K00856]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: C564683
 OMIM: 250850 180960 606664 614300","PMID:15024124
 著者        Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH
 タイトル      S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
 雑誌        Proc Natl Acad Sci U S A 101:4234-9 (2004)
 DOI:10.1073/pnas.0400658101
 PMID:11145114
 著者        Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C
 タイトル      Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.
 雑誌        Metabolism 49:1542-7 (2000)
 DOI:10.1053/meta.2000.18521
 PMID:21308989
 著者        Mudd SH
 タイトル      Hypermethioninemias of genetic and non-genetic origin: A review.
 雑誌        Am J Med Genet C Semin Med Genet 157:3-32 (2011)
 DOI:10.1002/ajmg.c.30293
 PMID:9612070 (Japanese)
 著者        Nagao M
 タイトル      [Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
 雑誌        Tanpakushitsu Kakusan Koso 43:762-9 (1998)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00184"">H00184</a>","高メチオニン血症
 下位グループ    メチオニンアデノシルトランスフェラーゼ欠損症
 アデノシルホモシステイン加水分解酵素欠損症
 アデノシンキナーゼ欠損症",Hypermethioninemia is an inborn error of methionine metabolism.,,"MAT1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4143"">4143</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00789"">K00789</a>]
 AHCY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:191"">191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01251"">K01251</a>]
 GNMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27232"">27232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00552"">K00552</a>]
 ADK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:132"">132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00856"">K00856</a>]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564683"">C564683</a>
 OMIM: <a href=""https://www.omim.org/entry/250850"">250850</a> <a href=""https://www.omim.org/entry/180960"">180960</a> <a href=""https://www.omim.org/entry/606664"">606664</a> <a href=""https://www.omim.org/entry/614300"">614300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15024124"">15024124</a>
 著者        Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH
 タイトル      S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
 雑誌        Proc Natl Acad Sci U S A 101:4234-9 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0400658101"">10.1073/pnas.0400658101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11145114"">11145114</a>
 著者        Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C
 タイトル      Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.
 雑誌        Metabolism 49:1542-7 (2000)
 DOI:<a href=""https://doi.org/10.1053/meta.2000.18521"">10.1053/meta.2000.18521</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21308989"">21308989</a>
 著者        Mudd SH
 タイトル      Hypermethioninemias of genetic and non-genetic origin: A review.
 雑誌        Am J Med Genet C Semin Med Genet 157:3-32 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30293"">10.1002/ajmg.c.30293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9612070"">9612070</a> (Japanese)
 著者        Nagao M
 タイトル      [Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
 雑誌        Tanpakushitsu Kakusan Koso 43:762-9 (1998)"
H00185,"シトルリン血症;
 アルギニノコハク酸合成酵素欠損症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels.,先天性代謝異常症,nt06010  Urea cycle,"(CTLN1) ASS1 [HSA:445] [KO:K01940]
 (CTLN2) SLC25A13 [HSA:10165] [KO:K15105]",,,,"L-アルギニン塩酸塩 [DR:D01126]
 L-アルギニン・L-アルギニン塩酸塩 [DR:D08754]",,"ICD-11: 5C50.A3
 ICD-10: E72.2
 MeSH: D020159
 OMIM: 215700 603471 605814","PMID:18473344
 著者        Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Hohne W, Koch HG, Rolinski B, Gempel K, Haberle J
 タイトル      Investigation of citrullinemia type I variants by in vitro expression studies.
 雑誌        Hum Mutat 29:1222-7 (2008)
 DOI:10.1002/humu.20784
 PMID:15050970
 著者        Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y
 タイトル      Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
 雑誌        Mol Genet Metab 81 Suppl 1:S20-6 (2004)
 DOI:10.1016/j.ymgme.2004.01.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00185"">H00185</a>","シトルリン血症;
 アルギニノコハク酸合成酵素欠損症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]",Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels.,"<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","(CTLN1) ASS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:445"">445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01940"">K01940</a>]
 (CTLN2) SLC25A13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10165"">10165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15105"">K15105</a>]",,,,"L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01126"">D01126</a>]
 L-アルギニン・L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08754"">D08754</a>]",,"ICD-11: 5C50.A3
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020159"">D020159</a>
 OMIM: <a href=""https://www.omim.org/entry/215700"">215700</a> <a href=""https://www.omim.org/entry/603471"">603471</a> <a href=""https://www.omim.org/entry/605814"">605814</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18473344"">18473344</a>
 著者        Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Hohne W, Koch HG, Rolinski B, Gempel K, Haberle J
 タイトル      Investigation of citrullinemia type I variants by in vitro expression studies.
 雑誌        Hum Mutat 29:1222-7 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.20784"">10.1002/humu.20784</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15050970"">15050970</a>
 著者        Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y
 タイトル      Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
 雑誌        Mol Genet Metab 81 Suppl 1:S20-6 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.01.006"">10.1016/j.ymgme.2004.01.006</a>"
H00186,"高アルギニン血症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,"Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy.",先天性代謝異常症,nt06010  Urea cycle,ARG1 [HSA:383] [KO:K01476],,,,,,"ICD-11: 5C50.A2
 ICD-10: E72.2
 MeSH: D020162
 OMIM: 207800","PMID:16602094
 著者        Scaglia F, Lee B
 タイトル      Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
 雑誌        Am J Med Genet C Semin Med Genet 142C:113-20 (2006)
 DOI:10.1002/ajmg.c.30091
 PMID:15694174
 著者        Crombez EA, Cederbaum SD
 タイトル      Hyperargininemia due to liver arginase deficiency.
 雑誌        Mol Genet Metab 84:243-51 (2005)
 DOI:10.1016/j.ymgme.2004.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00186"">H00186</a>","高アルギニン血症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]","Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy.","<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","ARG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:383"">383</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01476"">K01476</a>]",,,,,,"ICD-11: 5C50.A2
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020162"">D020162</a>
 OMIM: <a href=""https://www.omim.org/entry/207800"">207800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602094"">16602094</a>
 著者        Scaglia F, Lee B
 タイトル      Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
 雑誌        Am J Med Genet C Semin Med Genet 142C:113-20 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30091"">10.1002/ajmg.c.30091</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15694174"">15694174</a>
 著者        Crombez EA, Cederbaum SD
 タイトル      Hyperargininemia due to liver arginase deficiency.
 雑誌        Mol Genet Metab 84:243-51 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.11.004"">10.1016/j.ymgme.2004.11.004</a>"
H00187,"オルニチントランスカルバミラーゼ欠損症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,"Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation.",先天性代謝異常症,nt06010  Urea cycle,OTC [HSA:5009] [KO:K00611],,,,"L-アルギニン塩酸塩 [DR:D01126]
 L-アルギニン・L-アルギニン塩酸塩 [DR:D08754]",,"ICD-11: 5C50.9 5C50.AY
 ICD-10: E72.4
 MeSH: D020163
 OMIM: 311250","PMID:18038189
 著者        Gropman AL, Summar M, Leonard JV
 タイトル      Neurological implications of urea cycle disorders.
 雑誌        J Inherit Metab Dis 30:865-79 (2007)
 DOI:10.1007/s10545-007-0709-5
 PMID:12788037
 著者        Gordon N
 タイトル      Ornithine transcarbamylase deficiency: a urea cycle defect.
 雑誌        Eur J Paediatr Neurol 7:115-21 (2003)
 DOI:10.1016/S1090-3798(03)00040-0
 PMID:10885542
 著者        Butterworth RF
 タイトル      Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency.
 雑誌        Metab Brain Dis 15:83-91 (2000)
 DOI:10.1023/A:1011165819480","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00187"">H00187</a>","オルニチントランスカルバミラーゼ欠損症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]","Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation.","<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","OTC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5009"">5009</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00611"">K00611</a>]",,,,"L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01126"">D01126</a>]
 L-アルギニン・L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08754"">D08754</a>]",,"ICD-11: 5C50.9 5C50.AY
 ICD-10: E72.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020163"">D020163</a>
 OMIM: <a href=""https://www.omim.org/entry/311250"">311250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18038189"">18038189</a>
 著者        Gropman AL, Summar M, Leonard JV
 タイトル      Neurological implications of urea cycle disorders.
 雑誌        J Inherit Metab Dis 30:865-79 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0709-5"">10.1007/s10545-007-0709-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12788037"">12788037</a>
 著者        Gordon N
 タイトル      Ornithine transcarbamylase deficiency: a urea cycle defect.
 雑誌        Eur J Paediatr Neurol 7:115-21 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1090-3798(03)00040-0"">10.1016/S1090-3798(03)00040-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10885542"">10885542</a>
 著者        Butterworth RF
 タイトル      Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency.
 雑誌        Metab Brain Dis 15:83-91 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1011165819480"">1011165819480</a>"
H00188,高リジン血症,,,Hyperlysinemia is an autosomal recessive metabolic disorder caused by aminoadipate-semialdehyde synthase deficiency and characterized by an abnormal increase of lysine in the blood.,先天性代謝異常症,,AASS [HSA:10157] [KO:K14157],,,,,,"ICD-11: 5C50.4
 ICD-10: E72.3
 MeSH: D020167
 OMIM: 238700","PMID:10775527
 著者        Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
 タイトル      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
 雑誌        Am J Hum Genet 66:1736-43 (2000)
 DOI:10.1086/302919","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00188"">H00188</a>",高リジン血症,Hyperlysinemia is an autosomal recessive metabolic disorder caused by aminoadipate-semialdehyde synthase deficiency and characterized by an abnormal increase of lysine in the blood.,,"AASS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10157"">10157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14157"">K14157</a>]",,,,,,"ICD-11: 5C50.4
 ICD-10: E72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020167"">D020167</a>
 OMIM: <a href=""https://www.omim.org/entry/238700"">238700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10775527"">10775527</a>
 著者        Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
 タイトル      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
 雑誌        Am J Hum Genet 66:1736-43 (2000)
 DOI:<a href=""https://doi.org/10.1086/302919"">10.1086/302919</a>"
H00189,"高オルニチン血症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy.,先天性代謝異常症,,OAT [HSA:4942] [KO:K00819],,,,,,"ICD-11: 5C50.9
 ICD-10: E72.4
 MeSH: D015799
 OMIM: 258870","PMID:11465067
 著者        Seiler N
 タイトル      Ornithine aminotransferase, a potential target for the treatment of hyperammonemias.
 雑誌        Curr Drug Targets 1:119-53 (2000)
 DOI:10.2174/1389450003349254
 PMID:24429551
 著者        Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H
 タイトル      OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
 雑誌        Doc Ophthalmol 128:137-48 (2014)
 DOI:10.1007/s10633-014-9426-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00189"">H00189</a>","高オルニチン血症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]",Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy.,,"OAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4942"">4942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00819"">K00819</a>]",,,,,,"ICD-11: 5C50.9
 ICD-10: E72.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015799"">D015799</a>
 OMIM: <a href=""https://www.omim.org/entry/258870"">258870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11465067"">11465067</a>
 著者        Seiler N
 タイトル      Ornithine aminotransferase, a potential target for the treatment of hyperammonemias.
 雑誌        Curr Drug Targets 1:119-53 (2000)
 DOI:<a href=""https://doi.org/10.2174/1389450003349254"">10.2174/1389450003349254</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24429551"">24429551</a>
 著者        Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H
 タイトル      OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
 雑誌        Doc Ophthalmol 128:137-48 (2014)
 DOI:<a href=""https://doi.org/10.1007/s10633-014-9426-1"">10.1007/s10633-014-9426-1</a>"
H00190,高プロリン血症,,,"Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase (PRODH) and P5C dehydrogenase (P5CDH; also known as ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in plasma, urine, and cerebrospinal fluid. Some patients have neurological, renal, and/or auditory defects.",先天性代謝異常症,,"(HP1) PRODH [HSA:5625] [KO:K00318]
 (HP2) ALDH4A1 [HSA:8659] [KO:K00294]",,,,,,"ICD-11: 5C50.8
 ICD-10: E72.5
 MeSH: C538384 C538385
 OMIM: 239500 239510","PMID:18806117
 著者        Mitsubuchi H, Nakamura K, Matsumoto S, Endo F
 タイトル      Inborn errors of proline metabolism.
 雑誌        J Nutr 138:2016S-2020S (2008)
 DOI:10.1093/jn/138.10.2016S
 PMID:15214748
 著者        Onenli-Mungan N, Yuksel B, Elkay M, Topaloglu AK, Baykal T, Ozer G
 タイトル      Type II hyperprolinemia: a case report.
 雑誌        Turk J Pediatr 46:167-9 (2004)
 PMID:12217952
 著者        Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T
 タイトル      PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
 雑誌        Hum Mol Genet 11:2243-9 (2002)
 DOI:10.1093/hmg/11.19.2243
 PMID:20524212
 著者        Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafe L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D
 タイトル      Type I hyperprolinemia: genotype/phenotype correlations.
 雑誌        Hum Mutat 31:961-5 (2010)
 DOI:10.1002/humu.21296
 PMID:22516612
 著者        Srivastava D, Singh RK, Moxley MA, Henzl MT, Becker DF, Tanner JJ
 タイトル      The Three-Dimensional Structural Basis of Type II Hyperprolinemia.
 雑誌        J Mol Biol 420:176-89 (2012)
 DOI:10.1016/j.jmb.2012.04.010
 PMID:21882227
 著者        Ferreira AG, da Cunha AA, Machado FR, Pederzolli CD, Dalazen GR, de Assis AM, Lamers ML, dos Santos MF, Dutra-Filho CS, Wyse AT
 タイトル      Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver.
 雑誌        J Cell Biochem 113:174-83 (2012)
 DOI:10.1002/jcb.23342","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00190"">H00190</a>",高プロリン血症,"Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase (PRODH) and P5C dehydrogenase (P5CDH; also known as ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in plasma, urine, and cerebrospinal fluid. Some patients have neurological, renal, and/or auditory defects.",,"(HP1) PRODH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5625"">5625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00318"">K00318</a>]
 (HP2) ALDH4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8659"">8659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00294"">K00294</a>]",,,,,,"ICD-11: 5C50.8
 ICD-10: E72.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538384"">C538384</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538385"">C538385</a>
 OMIM: <a href=""https://www.omim.org/entry/239500"">239500</a> <a href=""https://www.omim.org/entry/239510"">239510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18806117"">18806117</a>
 著者        Mitsubuchi H, Nakamura K, Matsumoto S, Endo F
 タイトル      Inborn errors of proline metabolism.
 雑誌        J Nutr 138:2016S-2020S (2008)
 DOI:<a href=""https://doi.org/10.1093/jn/138.10.2016S"">10.1093/jn/138.10.2016S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15214748"">15214748</a>
 著者        Onenli-Mungan N, Yuksel B, Elkay M, Topaloglu AK, Baykal T, Ozer G
 タイトル      Type II hyperprolinemia: a case report.
 雑誌        Turk J Pediatr 46:167-9 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12217952"">12217952</a>
 著者        Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T
 タイトル      PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
 雑誌        Hum Mol Genet 11:2243-9 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.19.2243"">10.1093/hmg/11.19.2243</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20524212"">20524212</a>
 著者        Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafe L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D
 タイトル      Type I hyperprolinemia: genotype/phenotype correlations.
 雑誌        Hum Mutat 31:961-5 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21296"">10.1002/humu.21296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22516612"">22516612</a>
 著者        Srivastava D, Singh RK, Moxley MA, Henzl MT, Becker DF, Tanner JJ
 タイトル      The Three-Dimensional Structural Basis of Type II Hyperprolinemia.
 雑誌        J Mol Biol 420:176-89 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jmb.2012.04.010"">10.1016/j.jmb.2012.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21882227"">21882227</a>
 著者        Ferreira AG, da Cunha AA, Machado FR, Pederzolli CD, Dalazen GR, de Assis AM, Lamers ML, dos Santos MF, Dutra-Filho CS, Wyse AT
 タイトル      Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver.
 雑誌        J Cell Biochem 113:174-83 (2012)
 DOI:<a href=""https://doi.org/10.1002/jcb.23342"">10.1002/jcb.23342</a>"
H00191,"非ケトーシス型高グリシン血症;
 グリシン脳症",,,"Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic dysfunctions.",先天代謝異常症; 神経系疾患,,"GLDC; glycine dehydrogenase [HSA:2731] [KO:K00281]
 AMT; aminomethyltransferase [HSA:275] [KO:K00605]
 GCSH [HSA:2653] [KO:K02437]",,,,,,"ICD-11: 5C50.70
 ICD-10: E72.5
 OMIM: 605899","PMID:15864413
 著者        Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S
 タイトル      A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
 雑誌        J Hum Genet 50:230-4 (2005)
 DOI:10.1007/s10038-005-0243-y
 PMID:11592811
 著者        Applegarth DA, Toone JR
 タイトル      Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
 雑誌        Mol Genet Metab 74:139-46 (2001)
 DOI:10.1006/mgme.2001.3224
 PMID:8412015
 著者        Tada K, Kure S
 タイトル      Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.
 雑誌        J Inherit Metab Dis 16:691-703 (1993)
 DOI:10.1007/BF00711901","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00191"">H00191</a>","非ケトーシス型高グリシン血症;
 グリシン脳症","Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic dysfunctions.",,"GLDC; glycine dehydrogenase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2731"">2731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00281"">K00281</a>]
 AMT; aminomethyltransferase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:275"">275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00605"">K00605</a>]
 GCSH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2653"">2653</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02437"">K02437</a>]",,,,,,"ICD-11: 5C50.70
 ICD-10: E72.5
 OMIM: <a href=""https://www.omim.org/entry/605899"">605899</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15864413"">15864413</a>
 著者        Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S
 タイトル      A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
 雑誌        J Hum Genet 50:230-4 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10038-005-0243-y"">10.1007/s10038-005-0243-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11592811"">11592811</a>
 著者        Applegarth DA, Toone JR
 タイトル      Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
 雑誌        Mol Genet Metab 74:139-46 (2001)
 DOI:<a href=""https://doi.org/10.1006/mgme.2001.3224"">10.1006/mgme.2001.3224</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8412015"">8412015</a>
 著者        Tada K, Kure S
 タイトル      Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.
 雑誌        J Inherit Metab Dis 16:691-703 (1993)
 DOI:<a href=""https://doi.org/10.1007/BF00711901"">10.1007/BF00711901</a>"
H00192,"キサンチン尿症
 下位グループ    モリブデン補因子欠損症 [DS:H02311]",,,"Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Hereditary xanthinuria is classified into three categories. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.",先天性代謝異常症,nt06025  Molybdenum cofactor biosynthesis,"(XAN1) XDH [HSA:7498] [KO:K00106]
 (XAN2) MOCOS [HSA:55034] [KO:K15631]",,,,,,"ICD-11: 5C55.00
 ICD-10: E79.9
 MeSH: C562584 C566358
 OMIM: 278300 603592","PMID:29723117
 著者        Sebesta I, Stiburkova B, Krijt J
 タイトル      Hereditary xanthinuria is not so rare disorder of purine metabolism.
 雑誌        Nucleosides Nucleotides Nucleic Acids 37:324-328 (2018)
 DOI:10.1080/15257770.2018.1460478
 PMID:14624414
 著者        Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T
 タイトル      Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
 雑誌        Metabolism 52:1501-4 (2003)
 DOI:10.1016/S0026-0495(03)00272-5
 PMID:10844591
 著者        Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H
 タイトル      XDH gene mutation is the underlying cause of classical xanthinuria: a second report.
 雑誌        Kidney Int 57:2215-20 (2000)
 DOI:10.1046/j.1523-1755.2000.00082.x
 PMID:9153281
 著者        Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O
 タイトル      Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
 雑誌        J Clin Invest 99:2391-7 (1997)
 DOI:10.1172/JCI119421","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00192"">H00192</a>","キサンチン尿症
 下位グループ    モリブデン補因子欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02311"">H02311</a>]","Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Hereditary xanthinuria is classified into three categories. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.","<a href=""https://www.kegg.jp/network/nt06025"">nt06025</a>  Molybdenum cofactor biosynthesis","(XAN1) XDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7498"">7498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00106"">K00106</a>]
 (XAN2) MOCOS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55034"">55034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15631"">K15631</a>]",,,,,,"ICD-11: 5C55.00
 ICD-10: E79.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562584"">C562584</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566358"">C566358</a>
 OMIM: <a href=""https://www.omim.org/entry/278300"">278300</a> <a href=""https://www.omim.org/entry/603592"">603592</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29723117"">29723117</a>
 著者        Sebesta I, Stiburkova B, Krijt J
 タイトル      Hereditary xanthinuria is not so rare disorder of purine metabolism.
 雑誌        Nucleosides Nucleotides Nucleic Acids 37:324-328 (2018)
 DOI:<a href=""https://doi.org/10.1080/15257770.2018.1460478"">10.1080/15257770.2018.1460478</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14624414"">14624414</a>
 著者        Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T
 タイトル      Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.
 雑誌        Metabolism 52:1501-4 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0026-0495(03)00272-5"">10.1016/S0026-0495(03)00272-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10844591"">10844591</a>
 著者        Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H
 タイトル      XDH gene mutation is the underlying cause of classical xanthinuria: a second report.
 雑誌        Kidney Int 57:2215-20 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.2000.00082.x"">10.1046/j.1523-1755.2000.00082.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9153281"">9153281</a>
 著者        Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O
 タイトル      Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
 雑誌        J Clin Invest 99:2391-7 (1997)
 DOI:<a href=""https://doi.org/10.1172/JCI119421"">10.1172/JCI119421</a>"
H00193,ジヒドロピリミジン脱水素酵素欠損症,,,Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil.,先天性代謝異常症,,DPYD [HSA:1806] [KO:K00207],,Fluorouracil [CPD:C07649],,,,"ICD-11: 5C55.1
 ICD-10: E79.8
 MeSH: D054067
 OMIM: 274270","PMID:17905396
 著者        Ben Fredj R, Gross E, Chouchen L, B'Chir F, Ben Ahmed S, Neubauer S, Kiechle M, Saguem S
 タイトル      Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.
 雑誌        C R Biol 330:764-9 (2007)
 DOI:10.1016/j.crvi.2007.08.003
 PMID:17876700
 著者        Okamoto Y, Ueta A, Sumi S, Ito T, Okubo Y, Jose Y, Ninomiya A, Togari H, Nishida M
 タイトル      SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.
 雑誌        Biochem Genet 45:713-24 (2007)
 DOI:10.1007/s10528-007-9109-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00193"">H00193</a>",ジヒドロピリミジン脱水素酵素欠損症,Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil.,,"DPYD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1806"">1806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00207"">K00207</a>]",,"Fluorouracil [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07649"">C07649</a>]",,,,"ICD-11: 5C55.1
 ICD-10: E79.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054067"">D054067</a>
 OMIM: <a href=""https://www.omim.org/entry/274270"">274270</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17905396"">17905396</a>
 著者        Ben Fredj R, Gross E, Chouchen L, B'Chir F, Ben Ahmed S, Neubauer S, Kiechle M, Saguem S
 タイトル      Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.
 雑誌        C R Biol 330:764-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.crvi.2007.08.003"">10.1016/j.crvi.2007.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17876700"">17876700</a>
 著者        Okamoto Y, Ueta A, Sumi S, Ito T, Okubo Y, Jose Y, Ninomiya A, Togari H, Nishida M
 タイトル      SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.
 雑誌        Biochem Genet 45:713-24 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10528-007-9109-7"">10.1007/s10528-007-9109-7</a>"
H00194,"レッシュ・ナイハン症候群;
 ヒポキサンチン・グアニンホスホリボシルトランスフェラーゼ欠損症",,,Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations.,先天性代謝異常症,nt06027  Purine salvage pathway,HPRT1 [HSA:3251] [KO:K00760],,,,,,"ICD-11: 5C55.01
 ICD-10: E79.1
 MeSH: D007926
 OMIM: 300322 300323","PMID:18067674
 著者        Torres RJ, Puig JG
 タイトル      Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
 雑誌        Orphanet J Rare Dis 2:48 (2007)
 DOI:10.1186/1750-1172-2-48
 PMID:15711436
 著者        Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J
 タイトル      Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
 雑誌        Clin Neuropharmacol 28:28-37 (2005)
 DOI:10.1097/01.wnf.0000152043.36198.25
 PMID:15571219
 著者        McCarthy G
 タイトル      Medical diagnosis, management and treatment of Lesch Nyhan disease.
 雑誌        Nucleosides Nucleotides Nucleic Acids 23:1147-52 (2004)
 DOI:10.1081/NCN-200027395","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00194"">H00194</a>","レッシュ・ナイハン症候群;
 ヒポキサンチン・グアニンホスホリボシルトランスフェラーゼ欠損症",Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations.,"<a href=""https://www.kegg.jp/network/nt06027"">nt06027</a>  Purine salvage pathway","HPRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3251"">3251</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00760"">K00760</a>]",,,,,,"ICD-11: 5C55.01
 ICD-10: E79.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007926"">D007926</a>
 OMIM: <a href=""https://www.omim.org/entry/300322"">300322</a> <a href=""https://www.omim.org/entry/300323"">300323</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18067674"">18067674</a>
 著者        Torres RJ, Puig JG
 タイトル      Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
 雑誌        Orphanet J Rare Dis 2:48 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-48"">10.1186/1750-1172-2-48</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15711436"">15711436</a>
 著者        Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J
 タイトル      Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
 雑誌        Clin Neuropharmacol 28:28-37 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.wnf.0000152043.36198.25"">10.1097/01.wnf.0000152043.36198.25</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15571219"">15571219</a>
 著者        McCarthy G
 タイトル      Medical diagnosis, management and treatment of Lesch Nyhan disease.
 雑誌        Nucleosides Nucleotides Nucleic Acids 23:1147-52 (2004)
 DOI:<a href=""https://doi.org/10.1081/NCN-200027395"">10.1081/NCN-200027395</a>"
H00195,"アデニンホスホリボシルトランスフェラーゼ欠損症;
 2-8ジヒドロキシアデニン結石",,,"Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.",先天代謝異常症; 泌尿器疾患,nt06027  Purine salvage pathway,APRT; adenine phosphoribosyltransferase [HSA:353] [KO:K00759],,,,,,"ICD-11: 5C55.0Y
 ICD-10: N20.2
 MeSH: C538228
 OMIM: 614723","PMID:15571218
 著者        Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N
 タイトル      Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
 雑誌        Nucleosides Nucleotides Nucleic Acids 23:1141-5 (2004)
 DOI:10.1081/NCN-200027393
 PMID:15196008
 著者        Silva M, Silva CH, Iulek J, Thiemann OH
 タイトル      Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
 雑誌        Biochemistry 43:7663-71 (2004)
 DOI:10.1021/bi0360758
 PMID:11243733
 著者        Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A
 タイトル      2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
 雑誌        Mol Genet Metab 72:260-4 (2001)
 DOI:10.1006/mgme.2000.3142","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00195"">H00195</a>","アデニンホスホリボシルトランスフェラーゼ欠損症;
 2-8ジヒドロキシアデニン結石","Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.","<a href=""https://www.kegg.jp/network/nt06027"">nt06027</a>  Purine salvage pathway","APRT; adenine phosphoribosyltransferase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:353"">353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00759"">K00759</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: N20.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538228"">C538228</a>
 OMIM: <a href=""https://www.omim.org/entry/614723"">614723</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15571218"">15571218</a>
 著者        Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N
 タイトル      Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
 雑誌        Nucleosides Nucleotides Nucleic Acids 23:1141-5 (2004)
 DOI:<a href=""https://doi.org/10.1081/NCN-200027393"">10.1081/NCN-200027393</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15196008"">15196008</a>
 著者        Silva M, Silva CH, Iulek J, Thiemann OH
 タイトル      Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
 雑誌        Biochemistry 43:7663-71 (2004)
 DOI:<a href=""https://doi.org/10.1021/bi0360758"">10.1021/bi0360758</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11243733"">11243733</a>
 著者        Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A
 タイトル      2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
 雑誌        Mol Genet Metab 72:260-4 (2001)
 DOI:<a href=""https://doi.org/10.1006/mgme.2000.3142"">10.1006/mgme.2000.3142</a>"
H00196,ホスホリボシルピロリン酸合成酵素亢進症,,,Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout.,先天性代謝異常症,,PRPS1 [HSA:5631] [KO:K00948],,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: C567064
 OMIM: 300661","PMID:16176880
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:10.1016/j.ymgme.2005.07.027
 PMID:10066814
 著者        Ahmed M, Taylor W, Smith PR, Becker MA
 タイトル      Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.
 雑誌        J Biol Chem 274:7482-8 (1999)
 DOI:10.1074/jbc.274.11.7482
 PMID:8702702
 著者        Becker MA, Taylor W, Smith PR, Ahmed M
 タイトル      Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.
 雑誌        J Biol Chem 271:19894-9 (1996)
 DOI:10.1074/jbc.271.33.19894","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00196"">H00196</a>",ホスホリボシルピロリン酸合成酵素亢進症,Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout.,,"PRPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5631"">5631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00948"">K00948</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567064"">C567064</a>
 OMIM: <a href=""https://www.omim.org/entry/300661"">300661</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16176880"">16176880</a>
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.07.027"">10.1016/j.ymgme.2005.07.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10066814"">10066814</a>
 著者        Ahmed M, Taylor W, Smith PR, Becker MA
 タイトル      Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.
 雑誌        J Biol Chem 274:7482-8 (1999)
 DOI:<a href=""https://doi.org/10.1074/jbc.274.11.7482"">10.1074/jbc.274.11.7482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8702702"">8702702</a>
 著者        Becker MA, Taylor W, Smith PR, Ahmed M
 タイトル      Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.
 雑誌        J Biol Chem 271:19894-9 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.33.19894"">10.1074/jbc.271.33.19894</a>"
H00197,アデニロコハク酸リアーゼ欠損症,,,Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.,先天性代謝異常症,,ADSL [HSA:158] [KO:K01756],,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.9
 MeSH: C538235
 OMIM: 103050","PMID:16839792
 著者        Spiegel EK, Colman RF, Patterson D
 タイトル      Adenylosuccinate lyase deficiency.
 雑誌        Mol Genet Metab 89:19-31 (2006)
 DOI:10.1016/j.ymgme.2006.04.018
 PMID:11392513
 著者        Ciardo F, Salerno C, Curatolo P
 タイトル      Neurologic aspects of adenylosuccinate lyase deficiency.
 雑誌        J Child Neurol 16:301-8 (2001)
 DOI:10.1177/088307380101600501
 PMID:11042421
 著者        Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sebire G, Vincent M
 タイトル      Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
 雑誌        Brain Dev 22:383-6 (2000)
 DOI:10.1016/S0387-7604(00)00154-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00197"">H00197</a>",アデニロコハク酸リアーゼ欠損症,Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.,,"ADSL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:158"">158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01756"">K01756</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538235"">C538235</a>
 OMIM: <a href=""https://www.omim.org/entry/103050"">103050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16839792"">16839792</a>
 著者        Spiegel EK, Colman RF, Patterson D
 タイトル      Adenylosuccinate lyase deficiency.
 雑誌        Mol Genet Metab 89:19-31 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.04.018"">10.1016/j.ymgme.2006.04.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11392513"">11392513</a>
 著者        Ciardo F, Salerno C, Curatolo P
 タイトル      Neurologic aspects of adenylosuccinate lyase deficiency.
 雑誌        J Child Neurol 16:301-8 (2001)
 DOI:<a href=""https://doi.org/10.1177/088307380101600501"">10.1177/088307380101600501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11042421"">11042421</a>
 著者        Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sebire G, Vincent M
 タイトル      Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
 雑誌        Brain Dev 22:383-6 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0387-7604(00)00154-6"">10.1016/S0387-7604(00)00154-6</a>"
H00198,オロト酸尿症,,,Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid.,先天性代謝異常症,,UMPS [HSA:7372] [KO:K13421],,,,,,"ICD-11: 3A03.0
 ICD-10: D53.0
 MeSH: C537136 C562589
 OMIM: 258900","PMID:16176880
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:10.1016/j.ymgme.2005.07.027
 PMID:9042911
 著者        Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y
 タイトル      Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
 雑誌        Am J Hum Genet 60:525-39 (1997)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00198"">H00198</a>",オロト酸尿症,Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid.,,"UMPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7372"">7372</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13421"">K13421</a>]",,,,,,"ICD-11: 3A03.0
 ICD-10: D53.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537136"">C537136</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562589"">C562589</a>
 OMIM: <a href=""https://www.omim.org/entry/258900"">258900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16176880"">16176880</a>
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.07.027"">10.1016/j.ymgme.2005.07.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9042911"">9042911</a>
 著者        Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y
 タイトル      Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
 雑誌        Am J Hum Genet 60:525-39 (1997)"
H00199,"ジヒドロピリミジナーゼ欠損症;
 ジヒドロピリミジン尿症",,,Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation.,先天性代謝異常症,,DPYS [HSA:1807] [KO:K01464],,,,,,"ICD-11: 5C55.1
 MeSH: C562815
 OMIM: 222748","PMID:16176880
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:10.1016/j.ymgme.2005.07.027
 PMID:9718352
 著者        Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y
 タイトル      Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
 雑誌        Am J Hum Genet 63:717-26 (1998)
 DOI:10.1086/302022
 PMID:9266350
 著者        van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB
 タイトル      Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
 雑誌        J Inherit Metab Dis 20:339-42 (1997)
 DOI:10.1023/A:1005309423960","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00199"">H00199</a>","ジヒドロピリミジナーゼ欠損症;
 ジヒドロピリミジン尿症",Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation.,,"DPYS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1807"">1807</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01464"">K01464</a>]",,,,,,"ICD-11: 5C55.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562815"">C562815</a>
 OMIM: <a href=""https://www.omim.org/entry/222748"">222748</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16176880"">16176880</a>
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.07.027"">10.1016/j.ymgme.2005.07.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9718352"">9718352</a>
 著者        Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y
 タイトル      Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
 雑誌        Am J Hum Genet 63:717-26 (1998)
 DOI:<a href=""https://doi.org/10.1086/302022"">10.1086/302022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9266350"">9266350</a>
 著者        van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB
 タイトル      Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
 雑誌        J Inherit Metab Dis 20:339-42 (1997)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005309423960"">1005309423960</a>"
H00200,βウレイドプロピオナーゼ欠損症,,,Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.,先天性代謝異常症,,UPB1 [HSA:51733] [KO:K01431],,,,,,"ICD-11: 5C55.1
 ICD-10: E72.8
 MeSH: C563210
 OMIM: 606673","PMID:17964839
 著者        Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB
 タイトル      Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
 雑誌        Mol Genet Metab 93:190-4 (2008)
 DOI:10.1016/j.ymgme.2007.09.009
 PMID:16541364
 著者        Assmann B, Gohlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T
 タイトル      Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
 雑誌        Neuropediatrics 37:20-5 (2006)
 DOI:10.1055/s-2006-923933
 PMID:16176880
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:10.1016/j.ymgme.2005.07.027","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00200"">H00200</a>",βウレイドプロピオナーゼ欠損症,Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.,,"UPB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51733"">51733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01431"">K01431</a>]",,,,,,"ICD-11: 5C55.1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563210"">C563210</a>
 OMIM: <a href=""https://www.omim.org/entry/606673"">606673</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17964839"">17964839</a>
 著者        Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB
 タイトル      Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
 雑誌        Mol Genet Metab 93:190-4 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2007.09.009"">10.1016/j.ymgme.2007.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16541364"">16541364</a>
 著者        Assmann B, Gohlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T
 タイトル      Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
 雑誌        Neuropediatrics 37:20-5 (2006)
 DOI:<a href=""https://doi.org/10.1055/s-2006-923933"">10.1055/s-2006-923933</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16176880"">16176880</a>
 著者        Nyhan WL
 タイトル      Disorders of purine and pyrimidine metabolism.
 雑誌        Mol Genet Metab 86:25-33 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.07.027"">10.1016/j.ymgme.2005.07.027</a>"
H00201,"骨髄性ポルフィリン症
 下位グループ    赤血球増殖性プロトポルフィリン症
 遺伝性赤芽球性ポルフィリン症
 ギュンター病
 骨髄肝性ポルフィリン症
 上位グループ    ポルフィリン症 [DS:H01763]",,,"Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.",先天性代謝異常症,,"(EPP1) FECH [HSA:2235] [KO:K01772]
 (EPP2) CLPX [HSA:10845] [KO:K03544]
 (CEP) UROS [HSA:7390] [KO:K01719]
 (HEP) UROD [HSA:7389] [KO:K01599]
 (XLDPP) ALAS2 [HSA:212] [KO:K00643]",,,,,,"ICD-11: 5C58.12
 ICD-10: E80.0
 MeSH: D017092
 OMIM: 177000 618015 263700 176100 300752","PMID:18537592
 著者        Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
 タイトル      Erythropoietic porphyrias: animal models and update in gene-based therapies.
 雑誌        Curr Gene Ther 8:176-86 (2008)
 DOI:10.2174/156652308784746477
 PMID:11117426
 著者        Gross U, Hoffmann GF, Doss MO
 タイトル      Erythropoietic and hepatic porphyrias.
 雑誌        J Inherit Metab Dis 23:641-61 (2000)
 DOI:10.1023/A:1005645624262
 PMID:16385445 (FECH)
 著者        Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC
 タイトル      Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
 雑誌        Am J Hum Genet 78:2-14 (2006)
 DOI:10.1086/498620
 PMID:15574461 (FECH)
 著者        Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S
 タイトル      Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
 雑誌        Hum Mol Genet 14:327-34 (2005)
 DOI:10.1093/hmg/ddi029
 PMID:28874591 (CLPX)
 著者        Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH
 タイトル      Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
 雑誌        Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
 DOI:10.1073/pnas.1700632114
 PMID:8829650 (UROS)
 著者        Xu W, Astrin KH, Desnick RJ
 タイトル      Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
 雑誌        Hum Mutat 7:187-92 (1996)
 DOI:10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8
 PMID:2920211 (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:10.1182/blood.V73.4.892.892
 PMID:21653323 (ALAS2)
 著者        To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
 タイトル      ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
 雑誌        Blood 118:1443-51 (2011)
 DOI:10.1182/blood-2011-03-342873
 PMID:18760763 (ALAS2)
 著者        Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H
 タイトル      C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
 雑誌        Am J Hum Genet 83:408-14 (2008)
 DOI:10.1016/j.ajhg.2008.08.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00201"">H00201</a>","骨髄性ポルフィリン症
 下位グループ    赤血球増殖性プロトポルフィリン症
 遺伝性赤芽球性ポルフィリン症
 ギュンター病
 骨髄肝性ポルフィリン症
 上位グループ    ポルフィリン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01763"">H01763</a>]","Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.",,"(EPP1) FECH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2235"">2235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01772"">K01772</a>]
 (EPP2) CLPX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10845"">10845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03544"">K03544</a>]
 (CEP) UROS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7390"">7390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01719"">K01719</a>]
 (HEP) UROD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7389"">7389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01599"">K01599</a>]
 (XLDPP) ALAS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:212"">212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00643"">K00643</a>]",,,,,,"ICD-11: 5C58.12
 ICD-10: E80.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017092"">D017092</a>
 OMIM: <a href=""https://www.omim.org/entry/177000"">177000</a> <a href=""https://www.omim.org/entry/618015"">618015</a> <a href=""https://www.omim.org/entry/263700"">263700</a> <a href=""https://www.omim.org/entry/176100"">176100</a> <a href=""https://www.omim.org/entry/300752"">300752</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18537592"">18537592</a>
 著者        Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
 タイトル      Erythropoietic porphyrias: animal models and update in gene-based therapies.
 雑誌        Curr Gene Ther 8:176-86 (2008)
 DOI:<a href=""https://doi.org/10.2174/156652308784746477"">10.2174/156652308784746477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11117426"">11117426</a>
 著者        Gross U, Hoffmann GF, Doss MO
 タイトル      Erythropoietic and hepatic porphyrias.
 雑誌        J Inherit Metab Dis 23:641-61 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005645624262"">1005645624262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16385445"">16385445</a> (FECH)
 著者        Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC
 タイトル      Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
 雑誌        Am J Hum Genet 78:2-14 (2006)
 DOI:<a href=""https://doi.org/10.1086/498620"">10.1086/498620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15574461"">15574461</a> (FECH)
 著者        Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S
 タイトル      Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
 雑誌        Hum Mol Genet 14:327-34 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi029"">10.1093/hmg/ddi029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28874591"">28874591</a> (CLPX)
 著者        Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH
 タイトル      Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
 雑誌        Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
 DOI:<a href=""https://doi.org/10.1073/pnas.1700632114"">10.1073/pnas.1700632114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8829650"">8829650</a> (UROS)
 著者        Xu W, Astrin KH, Desnick RJ
 タイトル      Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
 雑誌        Hum Mutat 7:187-92 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1996)7:"">10.1002/(SICI)1098-1004(1996)7:</a><a href=""https://doi.org/3<187:"">3<187:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-8"">AID-HUMU1>3.0.CO;2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2920211"">2920211</a> (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:<a href=""https://doi.org/10.1182/blood.V73.4.892.892"">10.1182/blood.V73.4.892.892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21653323"">21653323</a> (ALAS2)
 著者        To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
 タイトル      ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
 雑誌        Blood 118:1443-51 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2011-03-342873"">10.1182/blood-2011-03-342873</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18760763"">18760763</a> (ALAS2)
 著者        Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H
 タイトル      C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
 雑誌        Am J Hum Genet 83:408-14 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.08.003"">10.1016/j.ajhg.2008.08.003</a>"
H00202,"肝性ポルフィリン症
 下位グループ    晩発性皮膚ポルフィリン症
 骨髄肝性ポルフィリン症
 急性間欠性ポルフィリン症
 異型ポルフィリン症
 アミノレブリン酸デヒドラターゼ欠損症
 遺伝性コプロポルフィリン症
 上位グループ    ポルフィリン症 [DS:H01763]",,,Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic.,先天性代謝異常症,,"(PCT) UROD [HSA:7389] [KO:K01599]
 (AIP) HMBS [HSA:3145] [KO:K01749]
 (VP) PPOX [HSA:5498] [KO:K00231]
 (ALADP) ALAD [HSA:210] [KO:K01698]
 (HCP) CPOX [HSA:1371] [KO:K00228]",,,,ギボシランナトリウム [DR:D11708],,"ICD-11: 5C58.10
 ICD-10: E80.1 E80.2
 MeSH: D017094
 OMIM: 176100 176000 176200 612740 121300","PMID:14995910
 著者        Kauppinen R
 タイトル      Molecular diagnostics of acute intermittent porphyria.
 雑誌        Expert Rev Mol Diagn 4:243-9 (2004)
 DOI:10.1586/14737159.4.2.243
 PMID:12919129
 著者        Lecha M, Herrero C, Ozalla D
 タイトル      Diagnosis and treatment of the hepatic porphyrias.
 雑誌        Dermatol Ther 16:65-72 (2003)
 DOI:10.1046/j.1529-8019.2003.01610.x
 PMID:12367763
 著者        Nordmann Y, Puy H
 タイトル      Human hereditary hepatic porphyrias.
 雑誌        Clin Chim Acta 325:17-37 (2002)
 DOI:10.1016/S0009-8981(02)00276-0
 PMID:2920211 (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:10.1182/blood.V73.4.892.892
 PMID:9199558 (HMBS)
 著者        Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y
 タイトル      Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
 雑誌        Am J Hum Genet 60:1373-83 (1997)
 DOI:10.1086/515455
 PMID:8852667 (PPOX)
 著者        Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
 タイトル      Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
 雑誌        Hum Mol Genet 5:407-10 (1996)
 DOI:10.1093/hmg/5.3.407
 PMID:2063868 (ALAD)
 著者        Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
 タイトル      delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
 雑誌        Am J Hum Genet 49:167-74 (1991)
 PMID:8012360 (CPOX)
 著者        Martasek P, Nordmann Y, Grandchamp B
 タイトル      Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
 雑誌        Hum Mol Genet 3:477-80 (1994)
 DOI:10.1093/hmg/3.3.477","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00202"">H00202</a>","肝性ポルフィリン症
 下位グループ    晩発性皮膚ポルフィリン症
 骨髄肝性ポルフィリン症
 急性間欠性ポルフィリン症
 異型ポルフィリン症
 アミノレブリン酸デヒドラターゼ欠損症
 遺伝性コプロポルフィリン症
 上位グループ    ポルフィリン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01763"">H01763</a>]",Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic.,,"(PCT) UROD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7389"">7389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01599"">K01599</a>]
 (AIP) HMBS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3145"">3145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01749"">K01749</a>]
 (VP) PPOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5498"">5498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00231"">K00231</a>]
 (ALADP) ALAD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:210"">210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01698"">K01698</a>]
 (HCP) CPOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1371"">1371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00228"">K00228</a>]",,,,"ギボシランナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11708"">D11708</a>]",,"ICD-11: 5C58.10
 ICD-10: E80.1 E80.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017094"">D017094</a>
 OMIM: <a href=""https://www.omim.org/entry/176100"">176100</a> <a href=""https://www.omim.org/entry/176000"">176000</a> <a href=""https://www.omim.org/entry/176200"">176200</a> <a href=""https://www.omim.org/entry/612740"">612740</a> <a href=""https://www.omim.org/entry/121300"">121300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14995910"">14995910</a>
 著者        Kauppinen R
 タイトル      Molecular diagnostics of acute intermittent porphyria.
 雑誌        Expert Rev Mol Diagn 4:243-9 (2004)
 DOI:<a href=""https://doi.org/10.1586/14737159.4.2.243"">10.1586/14737159.4.2.243</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12919129"">12919129</a>
 著者        Lecha M, Herrero C, Ozalla D
 タイトル      Diagnosis and treatment of the hepatic porphyrias.
 雑誌        Dermatol Ther 16:65-72 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1529-8019.2003.01610.x"">10.1046/j.1529-8019.2003.01610.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12367763"">12367763</a>
 著者        Nordmann Y, Puy H
 タイトル      Human hereditary hepatic porphyrias.
 雑誌        Clin Chim Acta 325:17-37 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0009-8981(02)00276-0"">10.1016/S0009-8981(02)00276-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2920211"">2920211</a> (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:<a href=""https://doi.org/10.1182/blood.V73.4.892.892"">10.1182/blood.V73.4.892.892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9199558"">9199558</a> (HMBS)
 著者        Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y
 タイトル      Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
 雑誌        Am J Hum Genet 60:1373-83 (1997)
 DOI:<a href=""https://doi.org/10.1086/515455"">10.1086/515455</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8852667"">8852667</a> (PPOX)
 著者        Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
 タイトル      Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
 雑誌        Hum Mol Genet 5:407-10 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.3.407"">10.1093/hmg/5.3.407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2063868"">2063868</a> (ALAD)
 著者        Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
 タイトル      delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
 雑誌        Am J Hum Genet 49:167-74 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8012360"">8012360</a> (CPOX)
 著者        Martasek P, Nordmann Y, Grandchamp B
 タイトル      Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
 雑誌        Hum Mol Genet 3:477-80 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.3.477"">10.1093/hmg/3.3.477</a>"
H00203,"無カタラーゼ血症;
 高原病",,,"Acatalasia is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients.",先天性代謝異常症,,CAT [HSA:847] [KO:K03781],,,,,,"ICD-11: 5C57.Y
 ICD-10: E80.3
 MeSH: D020642
 OMIM: 614097","PMID:19122680
 著者        Ogata M, Wang DH, Ogino K
 タイトル      Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology.
 雑誌        Acta Med Okayama 62:345-61 (2008)
 DOI:10.18926/AMO/30951
 PMID:15771551
 著者        Goth L, Rass P, Pay A
 タイトル      Catalase enzyme mutations and their association with diseases.
 雑誌        Mol Diagn 8:141-9 (2004)
 DOI:10.1007/bf03260057
 PMID:11500062
 著者        Goth L
 タイトル      A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.
 雑誌        Blood Cells Mol Dis 27:512-7 (2001)
 DOI:10.1006/bcmd.2001.0415
 PMID:17034877
 著者        Schrader M, Fahimi HD
 タイトル      Peroxisomes and oxidative stress.
 雑誌        Biochim Biophys Acta 1763:1755-66 (2006)
 DOI:10.1016/j.bbamcr.2006.09.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00203"">H00203</a>","無カタラーゼ血症;
 高原病","Acatalasia is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients.",,"CAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:847"">847</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03781"">K03781</a>]",,,,,,"ICD-11: 5C57.Y
 ICD-10: E80.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020642"">D020642</a>
 OMIM: <a href=""https://www.omim.org/entry/614097"">614097</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19122680"">19122680</a>
 著者        Ogata M, Wang DH, Ogino K
 タイトル      Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology.
 雑誌        Acta Med Okayama 62:345-61 (2008)
 DOI:<a href=""https://doi.org/10.18926/AMO/30951"">10.18926/AMO/30951</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15771551"">15771551</a>
 著者        Goth L, Rass P, Pay A
 タイトル      Catalase enzyme mutations and their association with diseases.
 雑誌        Mol Diagn 8:141-9 (2004)
 DOI:<a href=""https://doi.org/10.1007/bf03260057"">10.1007/bf03260057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11500062"">11500062</a>
 著者        Goth L
 タイトル      A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.
 雑誌        Blood Cells Mol Dis 27:512-7 (2001)
 DOI:<a href=""https://doi.org/10.1006/bcmd.2001.0415"">10.1006/bcmd.2001.0415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17034877"">17034877</a>
 著者        Schrader M, Fahimi HD
 タイトル      Peroxisomes and oxidative stress.
 雑誌        Biochim Biophys Acta 1763:1755-66 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2006.09.006"">10.1016/j.bbamcr.2006.09.006</a>"
H00204,"Heimler 症候群
 上位グループ    ペルオキシソーム形成異常症 [DS:H00205]",,,"Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.",先天性代謝異常症; ペルオキシソーム病,,"(HMLR1) PEX1 [HSA:5189] [KO:K13338]
 (HMLR2) PEX6 [HSA:5190] [KO:K13339]",,,,,,"ICD-11: LD27.0Y
 MeSH: C535994
 OMIM: 234580 616617","PMID:32596134
 著者        Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F
 タイトル      Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.
 雑誌        Mol Genet Metab Rep 24:100615 (2020)
 DOI:10.1016/j.ymgmr.2020.100615
 PMID:26387595 (PEX1, PEX6)
 著者        Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G
 タイトル      Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
 雑誌        Am J Hum Genet 97:535-45 (2015)
 DOI:10.1016/j.ajhg.2015.08.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00204"">H00204</a>","Heimler 症候群
 上位グループ    ペルオキシソーム形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]","Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.",,"(HMLR1) PEX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5189"">5189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13338"">K13338</a>]
 (HMLR2) PEX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5190"">5190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13339"">K13339</a>]",,,,,,"ICD-11: LD27.0Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535994"">C535994</a>
 OMIM: <a href=""https://www.omim.org/entry/234580"">234580</a> <a href=""https://www.omim.org/entry/616617"">616617</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32596134"">32596134</a>
 著者        Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F
 タイトル      Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.
 雑誌        Mol Genet Metab Rep 24:100615 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ymgmr.2020.100615"">10.1016/j.ymgmr.2020.100615</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26387595"">26387595</a> (PEX1, <a href=""https://pubmed.ncbi.nlm.nih.gov/PEX6)"">PEX6)</a>
 著者        Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G
 タイトル      Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
 雑誌        Am J Hum Genet 97:535-45 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.08.011"">10.1016/j.ajhg.2015.08.011</a>"
H00205,"ペルオキシソーム形成異常症
 下位グループ    ツェルウエーガー症候群 [DS:H01342]
 新生児型副腎白質ジストロフィー [DS:H00177]
 乳児レフスム病
 Heimler 症候群 (HS) [DS:H00204]
 肢根型点状軟骨異形成症 (RCDP1) [DS:H00207]",,,"Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), Infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1). Zellweger syndrome is the most severe form and results in neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar symptoms, but they survive considerably longer than ZS. NALD is the intermediate form and IRD is the mildest form.",先天性代謝異常症; ペルオキシソーム病,,"(PBD1A/1B) PEX1 [HSA:5189] [KO:K13338]
 (PBD2A/2B) PEX5 [HSA:5830] [KO:K13342]
 (PBD3A/3B) PEX12 [HSA:5193] [KO:K13345]
 (PBD4A/4B) PEX6 [HSA:5190] [KO:K13339]
 (PBD5A/5B) PEX2 [HSA:5828] [KO:K06664]
 (PBD6A/6B) PEX10 [HSA:5192] [KO:K13346]
 (PBD7A/7B) PEX26 [HSA:55670] [KO:K13340]
 (PBD8A/8B) PEX16 [HSA:9409] [KO:K13335]
 (PBD9B) PEX7 [HSA:5191] [KO:K13341]
 (PBD10A) PEX3 [HSA:8504] [KO:K13336]
 (PBD11A/11B) PEX13 [HSA:5194] [KO:K13344]
 (PBD12A) PEX19 [HSA:5824] [KO:K13337]
 (PBD13A) PEX14 [HSA:5195] [KO:K13343]
 (PBD14B) PEX11B [HSA:8799] [KO:K13352]",,,,,,"ICD-11: 5C57.0
 ICD-10: Q87.8
 MeSH: D018901
 OMIM: 214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887 601539 202370 266510 614863 614867 614871 614873 614877 614879 614885 614920","PMID:17055079
 著者        Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
 タイトル      Peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1763:1733-48 (2006)
 DOI:10.1016/j.bbamcr.2006.09.010
 PMID:15868469
 著者        Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM
 タイトル      Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain.
 雑誌        J Inherit Metab Dis 28:369-83 (2005)
 DOI:10.1007/s10545-005-7059-y
 PMID:15679822
 著者        Wanders RJ, Waterham HR
 タイトル      Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
 雑誌        Clin Genet 67:107-33 (2005)
 DOI:10.1111/j.1399-0004.2004.00329.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>","ペルオキシソーム形成異常症
 下位グループ    ツェルウエーガー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01342"">H01342</a>]
 新生児型副腎白質ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00177"">H00177</a>]
 乳児レフスム病
 Heimler 症候群 (HS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00204"">H00204</a>]
 肢根型点状軟骨異形成症 (RCDP1) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00207"">H00207</a>]","Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), Infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1). Zellweger syndrome is the most severe form and results in neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar symptoms, but they survive considerably longer than ZS. NALD is the intermediate form and IRD is the mildest form.",,"(PBD1A/1B) PEX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5189"">5189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13338"">K13338</a>]
 (PBD2A/2B) PEX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5830"">5830</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13342"">K13342</a>]
 (PBD3A/3B) PEX12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5193"">5193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13345"">K13345</a>]
 (PBD4A/4B) PEX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5190"">5190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13339"">K13339</a>]
 (PBD5A/5B) PEX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5828"">5828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06664"">K06664</a>]
 (PBD6A/6B) PEX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5192"">5192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13346"">K13346</a>]
 (PBD7A/7B) PEX26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55670"">55670</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13340"">K13340</a>]
 (PBD8A/8B) PEX16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9409"">9409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13335"">K13335</a>]
 (PBD9B) PEX7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5191"">5191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13341"">K13341</a>]
 (PBD10A) PEX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8504"">8504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13336"">K13336</a>]
 (PBD11A/11B) PEX13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5194"">5194</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13344"">K13344</a>]
 (PBD12A) PEX19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5824"">5824</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13337"">K13337</a>]
 (PBD13A) PEX14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5195"">5195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13343"">K13343</a>]
 (PBD14B) PEX11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8799"">8799</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13352"">K13352</a>]",,,,,,"ICD-11: 5C57.0
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018901"">D018901</a>
 OMIM: <a href=""https://www.omim.org/entry/214100"">214100</a> <a href=""https://www.omim.org/entry/214110"">214110</a> <a href=""https://www.omim.org/entry/614859"">614859</a> <a href=""https://www.omim.org/entry/614862"">614862</a> <a href=""https://www.omim.org/entry/614866"">614866</a> <a href=""https://www.omim.org/entry/614870"">614870</a> <a href=""https://www.omim.org/entry/614872"">614872</a> <a href=""https://www.omim.org/entry/614876"">614876</a> <a href=""https://www.omim.org/entry/614882"">614882</a> <a href=""https://www.omim.org/entry/614883"">614883</a> <a href=""https://www.omim.org/entry/614886"">614886</a> <a href=""https://www.omim.org/entry/614887"">614887</a> <a href=""https://www.omim.org/entry/601539"">601539</a> <a href=""https://www.omim.org/entry/202370"">202370</a> <a href=""https://www.omim.org/entry/266510"">266510</a> <a href=""https://www.omim.org/entry/614863"">614863</a> <a href=""https://www.omim.org/entry/614867"">614867</a> <a href=""https://www.omim.org/entry/614871"">614871</a> <a href=""https://www.omim.org/entry/614873"">614873</a> <a href=""https://www.omim.org/entry/614877"">614877</a> <a href=""https://www.omim.org/entry/614879"">614879</a> <a href=""https://www.omim.org/entry/614885"">614885</a> <a href=""https://www.omim.org/entry/614920"">614920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17055079"">17055079</a>
 著者        Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
 タイトル      Peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1763:1733-48 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2006.09.010"">10.1016/j.bbamcr.2006.09.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15868469"">15868469</a>
 著者        Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM
 タイトル      Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain.
 雑誌        J Inherit Metab Dis 28:369-83 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10545-005-7059-y"">10.1007/s10545-005-7059-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15679822"">15679822</a>
 著者        Wanders RJ, Waterham HR
 タイトル      Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
 雑誌        Clin Genet 67:107-33 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2004.00329.x"">10.1111/j.1399-0004.2004.00329.x</a>"
H00206,"メバロン酸キナーゼ欠損症
 下位グループ    高 IgD 症候群
 メバロン酸尿症",,,"Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.",免疫系疾患; 先天性代謝異常症,,MVK [HSA:4598] [KO:K00869],,,,カナキヌマブ [DR:D09315],,"ICD-11: 5C52.10
 ICD-10: D89.2
 MeSH: D054078
 OMIM: 260920 610377","PMID:17467679
 著者        Buhaescu I, Izzedine H
 タイトル      Mevalonate pathway: a review of clinical and therapeutical implications.
 雑誌        Clin Biochem 40:575-84 (2007)
 DOI:10.1016/j.clinbiochem.2007.03.016
 PMID:16835861
 著者        Mandey SH, Schneiders MS, Koster J, Waterham HR
 タイトル      Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
 雑誌        Hum Mutat 27:796-802 (2006)
 DOI:10.1002/humu.20361
 PMID:16722536
 著者        Haas D, Hoffmann GF
 タイトル      Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
 雑誌        Orphanet J Rare Dis 1:13 (2006)
 DOI:10.1186/1750-1172-1-13
 PMID:12861380
 著者        Houten SM, Frenkel J, Waterham HR
 タイトル      Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
 雑誌        Cell Mol Life Sci 60:1118-34 (2003)
 DOI:10.1007/s00018-003-2296-4
 PMID:11111075
 著者        Houten SM, Wanders RJ, Waterham HR
 タイトル      Biochemical and genetic aspects of mevalonate kinase and its deficiency.
 雑誌        Biochim Biophys Acta 1529:19-32 (2000)
 DOI:10.1016/S1388-1981(00)00135-9
 PMID:11792727
 著者        Hogenboom S, Romeijn GJ, Houten SM, Baes M, Wanders RJ, Waterham HR
 タイトル      Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
 雑誌        J Lipid Res 43:90-8 (2002)
 PMID:19768193 (HIDS)
 著者        Goldfinger S
 タイトル      The inherited autoinflammatory syndrome: a decade of discovery.
 雑誌        Trans Am Clin Climatol Assoc 120:413-8 (2009)
 PMID:17473510 (drug)
 著者        Naruto T
 タイトル      [MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]
 雑誌        Nihon Rinsho Meneki Gakkai Kaishi 30:86-9 (2007)
 DOI:10.2177/jsci.30.86
 PMID:20020131 (drug)
 著者        Shendi HM, Walsh D, Edgar JD
 タイトル      Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome.
 雑誌        Rheumatol Int 32:249-51 (2012)
 DOI:10.1007/s00296-009-1322-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00206"">H00206</a>","メバロン酸キナーゼ欠損症
 下位グループ    高 IgD 症候群
 メバロン酸尿症","Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.",,"MVK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4598"">4598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00869"">K00869</a>]",,,,"カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]",,"ICD-11: 5C52.10
 ICD-10: D89.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054078"">D054078</a>
 OMIM: <a href=""https://www.omim.org/entry/260920"">260920</a> <a href=""https://www.omim.org/entry/610377"">610377</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17467679"">17467679</a>
 著者        Buhaescu I, Izzedine H
 タイトル      Mevalonate pathway: a review of clinical and therapeutical implications.
 雑誌        Clin Biochem 40:575-84 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.clinbiochem.2007.03.016"">10.1016/j.clinbiochem.2007.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16835861"">16835861</a>
 著者        Mandey SH, Schneiders MS, Koster J, Waterham HR
 タイトル      Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
 雑誌        Hum Mutat 27:796-802 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20361"">10.1002/humu.20361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722536"">16722536</a>
 著者        Haas D, Hoffmann GF
 タイトル      Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
 雑誌        Orphanet J Rare Dis 1:13 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-13"">10.1186/1750-1172-1-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12861380"">12861380</a>
 著者        Houten SM, Frenkel J, Waterham HR
 タイトル      Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
 雑誌        Cell Mol Life Sci 60:1118-34 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00018-003-2296-4"">10.1007/s00018-003-2296-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11111075"">11111075</a>
 著者        Houten SM, Wanders RJ, Waterham HR
 タイトル      Biochemical and genetic aspects of mevalonate kinase and its deficiency.
 雑誌        Biochim Biophys Acta 1529:19-32 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(00)00135-9"">10.1016/S1388-1981(00)00135-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11792727"">11792727</a>
 著者        Hogenboom S, Romeijn GJ, Houten SM, Baes M, Wanders RJ, Waterham HR
 タイトル      Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
 雑誌        J Lipid Res 43:90-8 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19768193"">19768193</a> (HIDS)
 著者        Goldfinger S
 タイトル      The inherited autoinflammatory syndrome: a decade of discovery.
 雑誌        Trans Am Clin Climatol Assoc 120:413-8 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17473510"">17473510</a> (drug)
 著者        Naruto T
 タイトル      [MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]
 雑誌        Nihon Rinsho Meneki Gakkai Kaishi 30:86-9 (2007)
 DOI:<a href=""https://doi.org/10.2177/jsci.30.86"">10.2177/jsci.30.86</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20020131"">20020131</a> (drug)
 著者        Shendi HM, Walsh D, Edgar JD
 タイトル      Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome.
 雑誌        Rheumatol Int 32:249-51 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00296-009-1322-8"">10.1007/s00296-009-1322-8</a>"
H00207,"肢根型点状軟骨異形成症
 下位グループ    ペルオキシソーム脂肪酸アシルCoAレダクターゼ 1 欠損症 [DS:H02100]
 上位グループ    ペルオキシソーム形成異常症 [DS:H00205]",,,"Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.",先天性代謝異常症; 先天奇形,,"(RCDP1) PEX7 [HSA:5191] [KO:K13341]
 (RCDP2) GNPAT [HSA:8443] [KO:K00649]
 (RCDP3) AGPS [HSA:8540] [KO:K00803]
 (RCDP4) FAR1 [HSA:84188] [KO:K13356]
 (RCDP5) PEX5 [HSA:5830] [KO:K13342]",,,,,Peroxisomal disease,"ICD-11: LD24.04 5C57.0
 ICD-10: Q77.3
 MeSH: D018902
 OMIM: 215100 222765 600121 616154 616716","PMID:17055079
 著者        Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
 タイトル      Peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1763:1733-48 (2006)
 DOI:10.1016/j.bbamcr.2006.09.010
 PMID:15679822
 著者        Wanders RJ, Waterham HR
 タイトル      Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
 雑誌        Clin Genet 67:107-33 (2005)
 DOI:10.1111/j.1399-0004.2004.00329.x
 PMID:11478383
 著者        Powers JM
 タイトル      Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.
 雑誌        J Mol Neurosci 16:285-7; discussion 317-21 (2001)
 DOI:10.1385/JMN:16:2-3:285
 PMID:10904262
 著者        Gould SJ, Valle D
 タイトル      Peroxisome biogenesis disorders: genetics and cell biology.
 雑誌        Trends Genet 16:340-5 (2000)
 DOI:10.1016/S0168-9525(00)02056-4
 PMID:10553003
 著者        de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ
 タイトル      Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
 雑誌        J Lipid Res 40:1998-2003 (1999)
 PMID:10227689
 著者        Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB
 タイトル      Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
 雑誌        Neurochem Res 24:581-6 (1999)
 DOI:10.1023/A:1023957110171
 PMID:26220973
 著者        Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E
 タイトル      A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
 雑誌        Hum Mol Genet 24:5845-54 (2015)
 DOI:10.1093/hmg/ddv305","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00207"">H00207</a>","肢根型点状軟骨異形成症
 下位グループ    ペルオキシソーム脂肪酸アシルCoAレダクターゼ 1 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02100"">H02100</a>]
 上位グループ    ペルオキシソーム形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]","Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.",,"(RCDP1) PEX7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5191"">5191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13341"">K13341</a>]
 (RCDP2) GNPAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8443"">8443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00649"">K00649</a>]
 (RCDP3) AGPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8540"">8540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00803"">K00803</a>]
 (RCDP4) FAR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84188"">84188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13356"">K13356</a>]
 (RCDP5) PEX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5830"">5830</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13342"">K13342</a>]",,,,,Peroxisomal disease,"ICD-11: LD24.04 5C57.0
 ICD-10: Q77.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018902"">D018902</a>
 OMIM: <a href=""https://www.omim.org/entry/215100"">215100</a> <a href=""https://www.omim.org/entry/222765"">222765</a> <a href=""https://www.omim.org/entry/600121"">600121</a> <a href=""https://www.omim.org/entry/616154"">616154</a> <a href=""https://www.omim.org/entry/616716"">616716</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17055079"">17055079</a>
 著者        Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
 タイトル      Peroxisome biogenesis disorders.
 雑誌        Biochim Biophys Acta 1763:1733-48 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2006.09.010"">10.1016/j.bbamcr.2006.09.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15679822"">15679822</a>
 著者        Wanders RJ, Waterham HR
 タイトル      Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
 雑誌        Clin Genet 67:107-33 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2004.00329.x"">10.1111/j.1399-0004.2004.00329.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11478383"">11478383</a>
 著者        Powers JM
 タイトル      Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.
 雑誌        J Mol Neurosci 16:285-7; discussion 317-21 (2001)
 DOI:<a href=""https://doi.org/10.1385/JMN:"">10.1385/JMN:</a><a href=""https://doi.org/16:"">16:</a><a href=""https://doi.org/2-3:"">2-3:</a><a href=""https://doi.org/285"">285</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10904262"">10904262</a>
 著者        Gould SJ, Valle D
 タイトル      Peroxisome biogenesis disorders: genetics and cell biology.
 雑誌        Trends Genet 16:340-5 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0168-9525(00)02056-4"">10.1016/S0168-9525(00)02056-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10553003"">10553003</a>
 著者        de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ
 タイトル      Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
 雑誌        J Lipid Res 40:1998-2003 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10227689"">10227689</a>
 著者        Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB
 タイトル      Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
 雑誌        Neurochem Res 24:581-6 (1999)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1023957110171"">1023957110171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26220973"">26220973</a>
 著者        Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E
 タイトル      A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
 雑誌        Hum Mol Genet 24:5845-54 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv305"">10.1093/hmg/ddv305</a>"
H00208,"高ビリルビン血症
 下位グループ    クリグラー・ナジャー症候群 [DS:H02054]
 家族性新生児高ビリルビン血症 [DS:H02152]
 ジルベール症候群 [DS:H02055]
 デュビン・ジョンソン症候群 [DS:H02056]
 ローター症候群 [DS:H02057]",,,"Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice. Dubin-Johnson syndrome (DJS) is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump. Rotor syndrome (RS) is caused by mutations in the SLCO1B1 and SLCO1B3 genes that encode organic anion transporters. In both DJS and RS, mild jaundice begins shortly after birth or in childhood. There are no signs of hemolysis, and routine hematologic and clinical-biochemistry test results are normal, aside from the primarily conjugated hyperbilirubinemia. The hepatocyte pigment deposits is typical of DJS. Total urinary excretion of coproporphyrins is greatly increased in RS.",先天性代謝異常症,,"(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699]
 (DJS) ABCC2 [HSA:1244] [KO:K05666]
 (RS) SLCO1B1 [HSA:10599] [KO:K05043]
 (RS) SLCO1B3 [HSA:28234] [KO:K05043]",,,,タウリン [DR:D00047],,"ICD-11: 5C58.0
 ICD-10: E80.4 E80.5 E80.6
 MeSH: D006932
 OMIM: 218800 606785 143500 237900 237500 237450","PMID:16386929
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:10.1016/j.bcmd.2005.10.006
 PMID:12480568
 著者        Bosma PJ
 タイトル      Inherited disorders of bilirubin metabolism.
 雑誌        J Hepatol 38:107-17 (2003)
 DOI:10.1016/S0168-8278(02)00359-8
 PMID:11013440
 著者        Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
 タイトル      Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
 雑誌        Hum Mutat 16:297-306 (2000)
 DOI:10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
 PMID:10091414
 著者        Sampietro M, Iolascon A
 タイトル      Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
 雑誌        Haematologica 84:150-7 (1999)
 PMID:12388192
 著者        Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D
 タイトル      A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).
 雑誌        Am J Physiol Gastrointest Liver Physiol 284:G165-74 (2003)
 DOI:10.1152/ajpgi.00362.2002
 PMID:22232210
 著者        van de Steeg E, Stranecky V, Hartmannova H, Noskova L, Hrebicek M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticova E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
 タイトル      Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
 雑誌        J Clin Invest 122:519-28 (2012)
 DOI:10.1172/JCI59526","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>","高ビリルビン血症
 下位グループ    クリグラー・ナジャー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02054"">H02054</a>]
 家族性新生児高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02152"">H02152</a>]
 ジルベール症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02055"">H02055</a>]
 デュビン・ジョンソン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02056"">H02056</a>]
 ローター症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02057"">H02057</a>]","Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice. Dubin-Johnson syndrome (DJS) is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump. Rotor syndrome (RS) is caused by mutations in the SLCO1B1 and SLCO1B3 genes that encode organic anion transporters. In both DJS and RS, mild jaundice begins shortly after birth or in childhood. There are no signs of hemolysis, and routine hematologic and clinical-biochemistry test results are normal, aside from the primarily conjugated hyperbilirubinemia. The hepatocyte pigment deposits is typical of DJS. Total urinary excretion of coproporphyrins is greatly increased in RS.",,"(CN1, CN2) UGT1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54658"">54658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00699"">K00699</a>]
 (DJS) ABCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1244"">1244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05666"">K05666</a>]
 (RS) SLCO1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10599"">10599</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05043"">K05043</a>]
 (RS) SLCO1B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28234"">28234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05043"">K05043</a>]",,,,"タウリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00047"">D00047</a>]",,"ICD-11: 5C58.0
 ICD-10: E80.4 E80.5 E80.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006932"">D006932</a>
 OMIM: <a href=""https://www.omim.org/entry/218800"">218800</a> <a href=""https://www.omim.org/entry/606785"">606785</a> <a href=""https://www.omim.org/entry/143500"">143500</a> <a href=""https://www.omim.org/entry/237900"">237900</a> <a href=""https://www.omim.org/entry/237500"">237500</a> <a href=""https://www.omim.org/entry/237450"">237450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16386929"">16386929</a>
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bcmd.2005.10.006"">10.1016/j.bcmd.2005.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12480568"">12480568</a>
 著者        Bosma PJ
 タイトル      Inherited disorders of bilirubin metabolism.
 雑誌        J Hepatol 38:107-17 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0168-8278(02)00359-8"">10.1016/S0168-8278(02)00359-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11013440"">11013440</a>
 著者        Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
 タイトル      Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
 雑誌        Hum Mutat 16:297-306 (2000)
 DOI:<a href=""https://doi.org/10.1002/1098-1004(200010)16:"">10.1002/1098-1004(200010)16:</a><a href=""https://doi.org/4<297:"">4<297:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-Z"">AID-HUMU2>3.0.CO;2-Z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10091414"">10091414</a>
 著者        Sampietro M, Iolascon A
 タイトル      Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
 雑誌        Haematologica 84:150-7 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12388192"">12388192</a>
 著者        Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D
 タイトル      A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).
 雑誌        Am J Physiol Gastrointest Liver Physiol 284:G165-74 (2003)
 DOI:<a href=""https://doi.org/10.1152/ajpgi.00362.2002"">10.1152/ajpgi.00362.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22232210"">22232210</a>
 著者        van de Steeg E, Stranecky V, Hartmannova H, Noskova L, Hrebicek M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticova E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
 タイトル      Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
 雑誌        J Clin Invest 122:519-28 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI59526"">10.1172/JCI59526</a>"
H00209,"メンケス症候群
 下位グループ    メンケス病
 オクシピタル・ホーン症候群 [DS:H01859]",,,"Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years.",先天性代謝異常症,,ATP7A [HSA:538] [KO:K17686],,,,,,"ICD-11: 5C64.0Y
 ICD-10: E83.0
 MeSH: D007706
 OMIM: 309400","PMID:17989919
 著者        Bertini I, Rosato A
 タイトル      Menkes disease.
 雑誌        Cell Mol Life Sci 65:89-91 (2008)
 DOI:10.1007/s00018-007-7439-6
 PMID:17717039
 著者        de Bie P, Muller P, Wijmenga C, Klomp LW
 タイトル      Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 雑誌        J Med Genet 44:673-88 (2007)
 DOI:10.1136/jmg.2007.052746
 PMID:12539963
 著者        Voskoboinik I, Camakaris J
 タイトル      Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
 雑誌        J Bioenerg Biomembr 34:363-71 (2002)
 DOI:10.1023/A:1021250003104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00209"">H00209</a>","メンケス症候群
 下位グループ    メンケス病
 オクシピタル・ホーン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01859"">H01859</a>]","Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years.",,"ATP7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:538"">538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17686"">K17686</a>]",,,,,,"ICD-11: 5C64.0Y
 ICD-10: E83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007706"">D007706</a>
 OMIM: <a href=""https://www.omim.org/entry/309400"">309400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17989919"">17989919</a>
 著者        Bertini I, Rosato A
 タイトル      Menkes disease.
 雑誌        Cell Mol Life Sci 65:89-91 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00018-007-7439-6"">10.1007/s00018-007-7439-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17717039"">17717039</a>
 著者        de Bie P, Muller P, Wijmenga C, Klomp LW
 タイトル      Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 雑誌        J Med Genet 44:673-88 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052746"">10.1136/jmg.2007.052746</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12539963"">12539963</a>
 著者        Voskoboinik I, Camakaris J
 タイトル      Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
 雑誌        J Bioenerg Biomembr 34:363-71 (2002)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1021250003104"">1021250003104</a>"
H00210,"ウィルソン病;
 肝レンズ核変性症",,,"Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver.",先天性代謝異常症,,ATP7B [HSA:540] [KO:K17686],,,,"酢酸亜鉛水和物 [DR:D06408]
 トリエンチン塩酸塩 [DR:D00736]
 ペニシラミン [DR:D00496]",,"ICD-11: 5C64.00
 ICD-10: E83.0
 MeSH: D006527
 OMIM: 277900","PMID:17717039
 著者        de Bie P, Muller P, Wijmenga C, Klomp LW
 タイトル      Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 雑誌        J Med Genet 44:673-88 (2007)
 DOI:10.1136/jmg.2007.052746
 PMID:17382611
 著者        Medici V, Rossaro L, Sturniolo GC
 タイトル      Wilson disease--a practical approach to diagnosis, treatment and follow-up.
 雑誌        Dig Liver Dis 39:601-9 (2007)
 DOI:10.1016/j.dld.2006.12.095
 PMID:17276780
 著者        Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML
 タイトル      Wilson's disease.
 雑誌        Lancet 369:397-408 (2007)
 DOI:10.1016/S0140-6736(07)60196-2
 PMID:17272992
 著者        Durand F
 タイトル      Wilson's disease: an old disease keeps its old secrets.
 雑誌        Eur J Gastroenterol Hepatol 19:97-9 (2007)
 DOI:10.1097/MEG.0b013e32800fef34","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00210"">H00210</a>","ウィルソン病;
 肝レンズ核変性症","Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver.",,"ATP7B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:540"">540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17686"">K17686</a>]",,,,"酢酸亜鉛水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06408"">D06408</a>]
 トリエンチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00736"">D00736</a>]
 ペニシラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00496"">D00496</a>]",,"ICD-11: 5C64.00
 ICD-10: E83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006527"">D006527</a>
 OMIM: <a href=""https://www.omim.org/entry/277900"">277900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17717039"">17717039</a>
 著者        de Bie P, Muller P, Wijmenga C, Klomp LW
 タイトル      Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 雑誌        J Med Genet 44:673-88 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052746"">10.1136/jmg.2007.052746</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17382611"">17382611</a>
 著者        Medici V, Rossaro L, Sturniolo GC
 タイトル      Wilson disease--a practical approach to diagnosis, treatment and follow-up.
 雑誌        Dig Liver Dis 39:601-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.dld.2006.12.095"">10.1016/j.dld.2006.12.095</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17276780"">17276780</a>
 著者        Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML
 タイトル      Wilson's disease.
 雑誌        Lancet 369:397-408 (2007)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(07)60196-2"">10.1016/S0140-6736(07)60196-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17272992"">17272992</a>
 著者        Durand F
 タイトル      Wilson's disease: an old disease keeps its old secrets.
 雑誌        Eur J Gastroenterol Hepatol 19:97-9 (2007)
 DOI:<a href=""https://doi.org/10.1097/MEG.0b013e32800fef34"">10.1097/MEG.0b013e32800fef34</a>"
H00211,"ヘモクロマトーシス
 下位グループ    若年性ヘモクロマトーシス",,,"Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body.",先天性代謝異常症,,"(HFE1) HFE [HSA:3077]
 (HFE2A) HJV [HSA:148738] [KO:K23100]
 (HFE2B) HAMP [HSA:57817] [KO:K23106]
 (HFE3) TFR2 [HSA:7036] [KO:K23910]
 (HFE4) SLC40A1 [HSA:30061] [KO:K14685]
 (HFE5) FTH1 [HSA:2495] [KO:K00522]",,,,デフェロキサミンメシル酸塩 [DR:D01186],,"ICD-11: 5C64.1Y
 ICD-10: E83.1
 MeSH: D006432
 OMIM: 235200 602390 613313 604250 606069 615517","PMID:18061062
 著者        Adams PC, Barton JC.
 タイトル      Haemochromatosis.
 雑誌        Lancet 370:1855-60 (2007)
 DOI:10.1016/S0140-6736(07)61782-6
 PMID:16019461
 著者        Franchini M, Veneri D.
 タイトル      Hereditary hemochromatosis.
 雑誌        Hematology 10:145-9 (2005)
 DOI:10.1080/10245330500065771
 PMID:15747119
 著者        Franchini M, Veneri D.
 タイトル      Recent advances in hereditary hemochromatosis.
 雑誌        Ann Hematol 84:347-52 (2005)
 DOI:10.1007/s00277-005-1006-8
 PMID:8696333 (HFE)
 著者        Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK
 タイトル      A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
 雑誌        Nat Genet 13:399-408 (1996)
 DOI:10.1038/ng0896-399
 PMID:14647275 (HJV)
 著者        Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP
 タイトル      Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
 雑誌        Nat Genet 36:77-82 (2004)
 DOI:10.1038/ng1274
 PMID:12469120 (HAMP)
 著者        Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C
 タイトル      Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
 雑誌        Nat Genet 33:21-2 (2003)
 DOI:10.1038/ng1053
 PMID:10802645 (TFR2)
 著者        Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P
 タイトル      The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
 雑誌        Nat Genet 25:14-5 (2000)
 DOI:10.1038/75534
 PMID:11431687 (SLC40A1)
 著者        Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P
 タイトル      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
 雑誌        Nat Genet 28:213-4 (2001)
 DOI:10.1038/90038
 PMID:11389486 (FTH1)
 著者        Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, Niitsu Y
 タイトル      A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.
 雑誌        Am J Hum Genet 69:191-7 (2001)
 DOI:10.1086/321261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00211"">H00211</a>","ヘモクロマトーシス
 下位グループ    若年性ヘモクロマトーシス","Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body.",,"(HFE1) HFE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3077"">3077</a>]
 (HFE2A) HJV [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:148738"">148738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23100"">K23100</a>]
 (HFE2B) HAMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57817"">57817</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23106"">K23106</a>]
 (HFE3) TFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7036"">7036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23910"">K23910</a>]
 (HFE4) SLC40A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30061"">30061</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14685"">K14685</a>]
 (HFE5) FTH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2495"">2495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00522"">K00522</a>]",,,,"デフェロキサミンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01186"">D01186</a>]",,"ICD-11: 5C64.1Y
 ICD-10: E83.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006432"">D006432</a>
 OMIM: <a href=""https://www.omim.org/entry/235200"">235200</a> <a href=""https://www.omim.org/entry/602390"">602390</a> <a href=""https://www.omim.org/entry/613313"">613313</a> <a href=""https://www.omim.org/entry/604250"">604250</a> <a href=""https://www.omim.org/entry/606069"">606069</a> <a href=""https://www.omim.org/entry/615517"">615517</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18061062"">18061062</a>
 著者        Adams PC, Barton JC.
 タイトル      Haemochromatosis.
 雑誌        Lancet 370:1855-60 (2007)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(07)61782-6"">10.1016/S0140-6736(07)61782-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16019461"">16019461</a>
 著者        Franchini M, Veneri D.
 タイトル      Hereditary hemochromatosis.
 雑誌        Hematology 10:145-9 (2005)
 DOI:<a href=""https://doi.org/10.1080/10245330500065771"">10.1080/10245330500065771</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15747119"">15747119</a>
 著者        Franchini M, Veneri D.
 タイトル      Recent advances in hereditary hemochromatosis.
 雑誌        Ann Hematol 84:347-52 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00277-005-1006-8"">10.1007/s00277-005-1006-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8696333"">8696333</a> (HFE)
 著者        Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK
 タイトル      A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
 雑誌        Nat Genet 13:399-408 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0896-399"">10.1038/ng0896-399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14647275"">14647275</a> (HJV)
 著者        Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP
 タイトル      Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
 雑誌        Nat Genet 36:77-82 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1274"">10.1038/ng1274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12469120"">12469120</a> (HAMP)
 著者        Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C
 タイトル      Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
 雑誌        Nat Genet 33:21-2 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1053"">10.1038/ng1053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10802645"">10802645</a> (TFR2)
 著者        Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P
 タイトル      The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
 雑誌        Nat Genet 25:14-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/75534"">10.1038/75534</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11431687"">11431687</a> (SLC40A1)
 著者        Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P
 タイトル      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
 雑誌        Nat Genet 28:213-4 (2001)
 DOI:<a href=""https://doi.org/10.1038/90038"">10.1038/90038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11389486"">11389486</a> (FTH1)
 著者        Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, Niitsu Y
 タイトル      A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.
 雑誌        Am J Hum Genet 69:191-7 (2001)
 DOI:<a href=""https://doi.org/10.1086/321261"">10.1086/321261</a>"
H00212,腸性肢端皮膚炎,,,Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive.,先天性代謝異常症,,SLC39A4 [HSA:55630] [KO:K14710],,,,,,"ICD-11: 5C64.20
 ICD-10: E83.2
 MeSH: C538178
 OMIM: 201100","PMID:17190629
 著者        Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, Fazel N
 タイトル      Acrodermatitis enteropathica and an overview of zinc metabolism.
 雑誌        J Am Acad Dermatol 56:116-24 (2007)
 DOI:10.1016/j.jaad.2006.08.015
 PMID:11173209
 著者        Sehgal VN, Jain S
 タイトル      Acrodermatitis enteropathica.
 雑誌        Clin Dermatol 18:745-8 (2000)
 DOI:10.1016/S0738-081X(00)00150-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00212"">H00212</a>",腸性肢端皮膚炎,Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive.,,"SLC39A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55630"">55630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14710"">K14710</a>]",,,,,,"ICD-11: 5C64.20
 ICD-10: E83.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538178"">C538178</a>
 OMIM: <a href=""https://www.omim.org/entry/201100"">201100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17190629"">17190629</a>
 著者        Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, Fazel N
 タイトル      Acrodermatitis enteropathica and an overview of zinc metabolism.
 雑誌        J Am Acad Dermatol 56:116-24 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2006.08.015"">10.1016/j.jaad.2006.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11173209"">11173209</a>
 著者        Sehgal VN, Jain S
 タイトル      Acrodermatitis enteropathica.
 雑誌        Clin Dermatol 18:745-8 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0738-081X(00)00150-4"">10.1016/S0738-081X(00)00150-4</a>"
H00213,低ホスファターゼ症,,,Hypophosphatasia is an autosomal recessive disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization.,先天性代謝異常症,,ALPL [HSA:249] [KO:K01077],,,,アスホターゼアルファ [DR:D10595],,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: D007014
 OMIM: 146300 241500 241510","PMID:17916236
 著者        Mornet E
 タイトル      Hypophosphatasia.
 雑誌        Orphanet J Rare Dis 2:40 (2007)
 DOI:10.1186/1750-1172-2-40
 PMID:10737975 (description, gene, marker)
 著者        Mornet E
 タイトル      Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
 雑誌        Hum Mutat 15:309-15 (2000)
 DOI:10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C
 PMID:18328985 (description, gene, marker)
 著者        Mornet E
 タイトル      Hypophosphatasia.
 雑誌        Best Pract Res Clin Rheumatol 22:113-27 (2008)
 DOI:10.1016/j.berh.2007.11.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00213"">H00213</a>",低ホスファターゼ症,Hypophosphatasia is an autosomal recessive disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization.,,"ALPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:249"">249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01077"">K01077</a>]",,,,"アスホターゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10595"">D10595</a>]",,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007014"">D007014</a>
 OMIM: <a href=""https://www.omim.org/entry/146300"">146300</a> <a href=""https://www.omim.org/entry/241500"">241500</a> <a href=""https://www.omim.org/entry/241510"">241510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17916236"">17916236</a>
 著者        Mornet E
 タイトル      Hypophosphatasia.
 雑誌        Orphanet J Rare Dis 2:40 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-40"">10.1186/1750-1172-2-40</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10737975"">10737975</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Mornet E
 タイトル      Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
 雑誌        Hum Mutat 15:309-15 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200004)15:"">10.1002/(SICI)1098-1004(200004)15:</a><a href=""https://doi.org/4<309:"">4<309:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-C"">AID-HUMU2>3.0.CO;2-C</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328985"">18328985</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Mornet E
 タイトル      Hypophosphatasia.
 雑誌        Best Pract Res Clin Rheumatol 22:113-27 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.003"">10.1016/j.berh.2007.11.003</a>"
H00214,"低リン血症性くる病
 下位グループ    X連鎖優性低リン血症性くる病 [DS:H02143]
 X連鎖劣性低リン血症性くる病 [DS:H02142]
 常染色体優性低リン血症性くる病 [DS:H02141]
 常染色体劣性低リン血症性くる病 [DS:H02139]
 高カルシウム尿症を伴う遺伝性低リン血症性くる病 [DS:H02138]",,,"Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets.",先天性代謝異常症,,"(XLHR) PHEX [HSA:5251] [KO:K08636]
 (XLRH) CLCN5 [HSA:1184] [KO:K05012]
 (ADHR) FGF23 [HSA:8074] [KO:K22428]
 (ARHR1) DMP1 [HSA:1758] [KO:K23328]
 (ARHR2) ENPP1 [HSA:5167] [KO:K01513]
 (HHRH) SLC34A3 [HSA:142680] [KO:K14683]",,,,"アルファカルシドール [DR:D01518]
 リン酸二水素ナトリウム一水和物・無水リン酸水素二ナトリウム [DR:D08815]",,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: D063730 D053098
 OMIM: 307800 300554 193100 241520 613312 241530","PMID:18214537
 著者        Pettifor JM
 タイトル      What's new in hypophosphataemic rickets?
 雑誌        Eur J Pediatr 167:493-9 (2008)
 DOI:10.1007/s00431-007-0662-1
 PMID:17117305
 著者        de Menezes Filho H, de Castro LC, Damiani D
 タイトル      Hypophosphatemic rickets and osteomalacia.
 雑誌        Arq Bras Endocrinol Metabol 50:802-13 (2006)
 DOI:10.1590/S0004-27302006000400025
 PMID:7550339 (PHEX)
 タイトル      A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.
 雑誌        Nat Genet 11:130-6 (1995)
 DOI:10.1038/ng1095-130
 PMID:8559248 (CLCN5)
 著者        Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV
 タイトル      A common molecular basis for three inherited kidney stone diseases.
 雑誌        Nature 379:445-9 (1996)
 DOI:10.1038/379445a0
 PMID:11062477 (FGF23)
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:10.1038/81664
 PMID:17033625 (DMP1)
 著者        Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM
 タイトル      DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
 雑誌        Nat Genet 38:1248-50 (2006)
 DOI:10.1038/ng1868
 PMID:20137772 (ENPP1)
 著者        Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
 タイトル      Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
 雑誌        Am J Hum Genet 86:273-8 (2010)
 DOI:10.1016/j.ajhg.2010.01.010
 PMID:16358215 (SLC34A3)
 著者        Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
 タイトル      Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
 雑誌        Am J Hum Genet 78:193-201 (2006)
 DOI:10.1086/499410","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>","低リン血症性くる病
 下位グループ    X連鎖優性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02143"">H02143</a>]
 X連鎖劣性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02142"">H02142</a>]
 常染色体優性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02141"">H02141</a>]
 常染色体劣性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02139"">H02139</a>]
 高カルシウム尿症を伴う遺伝性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02138"">H02138</a>]","Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets.",,"(XLHR) PHEX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5251"">5251</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08636"">K08636</a>]
 (XLRH) CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]
 (ADHR) FGF23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8074"">8074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22428"">K22428</a>]
 (ARHR1) DMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1758"">1758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23328"">K23328</a>]
 (ARHR2) ENPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]
 (HHRH) SLC34A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:142680"">142680</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]",,,,"アルファカルシドール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01518"">D01518</a>]
 リン酸二水素ナトリウム一水和物・無水リン酸水素二ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08815"">D08815</a>]",,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D063730"">D063730</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053098"">D053098</a>
 OMIM: <a href=""https://www.omim.org/entry/307800"">307800</a> <a href=""https://www.omim.org/entry/300554"">300554</a> <a href=""https://www.omim.org/entry/193100"">193100</a> <a href=""https://www.omim.org/entry/241520"">241520</a> <a href=""https://www.omim.org/entry/613312"">613312</a> <a href=""https://www.omim.org/entry/241530"">241530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214537"">18214537</a>
 著者        Pettifor JM
 タイトル      What's new in hypophosphataemic rickets?
 雑誌        Eur J Pediatr 167:493-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00431-007-0662-1"">10.1007/s00431-007-0662-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17117305"">17117305</a>
 著者        de Menezes Filho H, de Castro LC, Damiani D
 タイトル      Hypophosphatemic rickets and osteomalacia.
 雑誌        Arq Bras Endocrinol Metabol 50:802-13 (2006)
 DOI:<a href=""https://doi.org/10.1590/S0004-27302006000400025"">10.1590/S0004-27302006000400025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7550339"">7550339</a> (PHEX)
 タイトル      A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.
 雑誌        Nat Genet 11:130-6 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1095-130"">10.1038/ng1095-130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8559248"">8559248</a> (CLCN5)
 著者        Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV
 タイトル      A common molecular basis for three inherited kidney stone diseases.
 雑誌        Nature 379:445-9 (1996)
 DOI:<a href=""https://doi.org/10.1038/379445a0"">10.1038/379445a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11062477"">11062477</a> (FGF23)
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/81664"">10.1038/81664</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033625"">17033625</a> (DMP1)
 著者        Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM
 タイトル      DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
 雑誌        Nat Genet 38:1248-50 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1868"">10.1038/ng1868</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137772"">20137772</a> (ENPP1)
 著者        Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
 タイトル      Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
 雑誌        Am J Hum Genet 86:273-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.010"">10.1016/j.ajhg.2010.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16358215"">16358215</a> (SLC34A3)
 著者        Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
 タイトル      Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
 雑誌        Am J Hum Genet 78:193-201 (2006)
 DOI:<a href=""https://doi.org/10.1086/499410"">10.1086/499410</a>"
H00215,"遺伝性周期性四肢麻痺
 下位グループ    高カリウム血性周期性四肢麻痺 [DS:H00745]
 低カリウム血性周期性四肢麻痺 [DS:H00746]
 Andersen-Tawil 症候群 [DS:H00748]",,,"The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP), and Andersen-Tawil syndrome (ATS) caused by mutations in genes encoding for subunits of channel proteins of the skeletal muscle membrane.",神経系疾患; 筋骨格疾患; 先天性代謝異常症,,"(HyperPP HypoPP) SCN4A [HSA:6329] [KO:K04837]
 (HypoPP) CACNA1S [HSA:779] [KO:K04857]
 (ATS) KCNJ2 [HSA:3759] [KO:K04996]",,,,,,"ICD-11: 8C74.1
 ICD-10: G72.3
 MeSH: D020513 D020514 D050030
 OMIM: 170500 170400 170390","PMID:18254068
 著者        Sansone V, Meola G, Links TP, Panzeri M, Rose MR
 タイトル      Treatment for periodic paralysis.
 雑誌        Cochrane Database Syst Rev CD005045 (2008)
 DOI:10.1002/14651858.CD005045.pub2
 PMID:18031562
 著者        Finsterer J
 タイトル      Primary periodic paralyses.
 雑誌        Acta Neurol Scand 117:145-58 (2008)
 DOI:10.1111/j.1600-0404.2007.00963.x
 PMID:16195244
 著者        Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC
 タイトル      The primary periodic paralyses: diagnosis, pathogenesis and treatment.
 雑誌        Brain 129:8-17 (2006)
 DOI:10.1093/brain/awh639
 PMID:20634695
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00215"">H00215</a>","遺伝性周期性四肢麻痺
 下位グループ    高カリウム血性周期性四肢麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00745"">H00745</a>]
 低カリウム血性周期性四肢麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00746"">H00746</a>]
 Andersen-Tawil 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00748"">H00748</a>]","The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP), and Andersen-Tawil syndrome (ATS) caused by mutations in genes encoding for subunits of channel proteins of the skeletal muscle membrane.",,"(HyperPP HypoPP) SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]
 (HypoPP) CACNA1S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:779"">779</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04857"">K04857</a>]
 (ATS) KCNJ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3759"">3759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04996"">K04996</a>]",,,,,,"ICD-11: 8C74.1
 ICD-10: G72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020513"">D020513</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020514"">D020514</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050030"">D050030</a>
 OMIM: <a href=""https://www.omim.org/entry/170500"">170500</a> <a href=""https://www.omim.org/entry/170400"">170400</a> <a href=""https://www.omim.org/entry/170390"">170390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18254068"">18254068</a>
 著者        Sansone V, Meola G, Links TP, Panzeri M, Rose MR
 タイトル      Treatment for periodic paralysis.
 雑誌        Cochrane Database Syst Rev CD005045 (2008)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD005045.pub2"">10.1002/14651858.CD005045.pub2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18031562"">18031562</a>
 著者        Finsterer J
 タイトル      Primary periodic paralyses.
 雑誌        Acta Neurol Scand 117:145-58 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2007.00963.x"">10.1111/j.1600-0404.2007.00963.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16195244"">16195244</a>
 著者        Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC
 タイトル      The primary periodic paralyses: diagnosis, pathogenesis and treatment.
 雑誌        Brain 129:8-17 (2006)
 DOI:<a href=""https://doi.org/10.1093/brain/awh639"">10.1093/brain/awh639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>"
H00216,"先天性副腎過形成症;
 先天性副腎酵素欠損症
 下位グループ    先天性副腎機能不全（部分的又は完全な 46,XY 性転換を伴う) [DS:H02314]
 チトクロム P450 酸化還元酵素によるステロイド産生異常 [DS:H02315]
 上位グループ    46,XY性分化疾患 (テストステロン分泌異常) [DS:H00608]
 男子性腺機能不全症 [DS:H02027]",,,Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism.,内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,"STAR [HSA:6770] [KO:K16931]
 HSD3B2 [HSA:3284] [KO:K00070]
 CYP21A2 [HSA:1589] [KO:K00513]
 CYP11B1 [HSA:1584] [KO:K00497]
 CYP17A1 [HSA:1586] [KO:K00512]",,,,,,"ICD-11: 5A71.01
 ICD-10: E25.0
 MeSH: D000312
 OMIM: 201710 201810 201910 202010 202110","PMID:18844712
 著者        Demirci C, Witchel SF
 タイトル      Congenital adrenal hyperplasia.
 雑誌        Dermatol Ther 21:340-53 (2008)
 DOI:10.1111/j.1529-8019.2008.00216.x
 PMID:18574213
 著者        Lin-Su K, Nimkarn S, New MI
 タイトル      Congenital adrenal hyperplasia in adolescents: diagnosis and management.
 雑誌        Ann N Y Acad Sci 1135:95-8 (2008)
 DOI:10.1196/annals.1429.021
 PMID:15554890
 著者        Charmandari E, Brook CG, Hindmarsh PC
 タイトル      Classic congenital adrenal hyperplasia and puberty.
 雑誌        Eur J Endocrinol 151 Suppl 3:U77-82 (2004)
 DOI:10.1530/eje.0.151U077
 PMID:12930931
 著者        Speiser PW, White PC
 タイトル      Congenital adrenal hyperplasia.
 雑誌        N Engl J Med 349:776-88 (2003)
 DOI:10.1056/NEJMra021561
 PMID:16906539
 著者        Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR
 タイトル      Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
 雑誌        Am J Med Genet A 140A:1797-803 (2006)
 DOI:10.1002/ajmg.a.31385","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00216"">H00216</a>","先天性副腎過形成症;
 先天性副腎酵素欠損症
 下位グループ    先天性副腎機能不全（部分的又は完全な 46,XY 性転換を伴う) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02314"">H02314</a>]
 チトクロム P450 酸化還元酵素によるステロイド産生異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02315"">H02315</a>]
 上位グループ    46,XY性分化疾患 (テストステロン分泌異常) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00608"">H00608</a>]
 男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]",Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism.,"<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","STAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6770"">6770</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16931"">K16931</a>]
 HSD3B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3284"">3284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00070"">K00070</a>]
 CYP21A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1589"">1589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00513"">K00513</a>]
 CYP11B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1584"">1584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00497"">K00497</a>]
 CYP17A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1586"">1586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00512"">K00512</a>]",,,,,,"ICD-11: 5A71.01
 ICD-10: E25.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000312"">D000312</a>
 OMIM: <a href=""https://www.omim.org/entry/201710"">201710</a> <a href=""https://www.omim.org/entry/201810"">201810</a> <a href=""https://www.omim.org/entry/201910"">201910</a> <a href=""https://www.omim.org/entry/202010"">202010</a> <a href=""https://www.omim.org/entry/202110"">202110</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18844712"">18844712</a>
 著者        Demirci C, Witchel SF
 タイトル      Congenital adrenal hyperplasia.
 雑誌        Dermatol Ther 21:340-53 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1529-8019.2008.00216.x"">10.1111/j.1529-8019.2008.00216.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18574213"">18574213</a>
 著者        Lin-Su K, Nimkarn S, New MI
 タイトル      Congenital adrenal hyperplasia in adolescents: diagnosis and management.
 雑誌        Ann N Y Acad Sci 1135:95-8 (2008)
 DOI:<a href=""https://doi.org/10.1196/annals.1429.021"">10.1196/annals.1429.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15554890"">15554890</a>
 著者        Charmandari E, Brook CG, Hindmarsh PC
 タイトル      Classic congenital adrenal hyperplasia and puberty.
 雑誌        Eur J Endocrinol 151 Suppl 3:U77-82 (2004)
 DOI:<a href=""https://doi.org/10.1530/eje.0.151U077"">10.1530/eje.0.151U077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12930931"">12930931</a>
 著者        Speiser PW, White PC
 タイトル      Congenital adrenal hyperplasia.
 雑誌        N Engl J Med 349:776-88 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMra021561"">10.1056/NEJMra021561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16906539"">16906539</a>
 著者        Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR
 タイトル      Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
 雑誌        Am J Med Genet A 140A:1797-803 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31385"">10.1002/ajmg.a.31385</a>"
H00217,"肺胞蛋白症
 下位グループ    先天性肺胞蛋白症 [DS:H01122]",,,"Pulmonary alveolar proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its component. PAP is classified into 2 main types, congenital and acquired. The acquired form is subdivided into the autoimmune form and the secondary form. The vast majority of PAP occurs as an autoimmune PAP. In autoimmune PAP, patients generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune PAP. Congenital PAP is also known as pulmonary surfactant metabolism dysfunction (SMDP).",呼吸器疾患,,,,,,,,"ICD-11: CB04.31
 ICD-10: J84.0
 MeSH: D011649","PMID:17575475
 著者        Hamvas A, Cole FS, Nogee LM
 タイトル      Genetic disorders of surfactant proteins.
 雑誌        Neonatology 91:311-7 (2007)
 DOI:10.1159/000101347
 PMID:16798578
 著者        Whitsett JA
 タイトル      Genetic disorders of surfactant homeostasis.
 雑誌        Paediatr Respir Rev 7 Suppl 1:S240-2 (2006)
 DOI:10.1016/j.prrv.2006.04.191
 PMID:15218289
 著者        Nogee LM
 タイトル      Genetic mechanisms of surfactant deficiency.
 雑誌        Biol Neonate 85:314-8 (2004)
 DOI:10.1159/000078171
 PMID:21496372
 著者        Khan A, Agarwal R
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Respir Care 56:1016-28 (2011)
 DOI:10.4187/respcare.01125
 PMID:21075760
 著者        Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
 タイトル      Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
 雑誌        J Med Genet 48:205-9 (2011)
 DOI:10.1136/jmg.2010.082586","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00217"">H00217</a>","肺胞蛋白症
 下位グループ    先天性肺胞蛋白症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01122"">H01122</a>]","Pulmonary alveolar proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its component. PAP is classified into 2 main types, congenital and acquired. The acquired form is subdivided into the autoimmune form and the secondary form. The vast majority of PAP occurs as an autoimmune PAP. In autoimmune PAP, patients generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune PAP. Congenital PAP is also known as pulmonary surfactant metabolism dysfunction (SMDP).",,,,,,,,"ICD-11: CB04.31
 ICD-10: J84.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011649"">D011649</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17575475"">17575475</a>
 著者        Hamvas A, Cole FS, Nogee LM
 タイトル      Genetic disorders of surfactant proteins.
 雑誌        Neonatology 91:311-7 (2007)
 DOI:<a href=""https://doi.org/10.1159/000101347"">10.1159/000101347</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16798578"">16798578</a>
 著者        Whitsett JA
 タイトル      Genetic disorders of surfactant homeostasis.
 雑誌        Paediatr Respir Rev 7 Suppl 1:S240-2 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.prrv.2006.04.191"">10.1016/j.prrv.2006.04.191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15218289"">15218289</a>
 著者        Nogee LM
 タイトル      Genetic mechanisms of surfactant deficiency.
 雑誌        Biol Neonate 85:314-8 (2004)
 DOI:<a href=""https://doi.org/10.1159/000078171"">10.1159/000078171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496372"">21496372</a>
 著者        Khan A, Agarwal R
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Respir Care 56:1016-28 (2011)
 DOI:<a href=""https://doi.org/10.4187/respcare.01125"">10.4187/respcare.01125</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21075760"">21075760</a>
 著者        Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
 タイトル      Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
 雑誌        J Med Genet 48:205-9 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2010.082586"">10.1136/jmg.2010.082586</a>"
H00218,嚢胞性線維症,,,"Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.",先天性代謝異常症,,"CFTR [HSA:1080] [KO:K05031]
 TGFB1 [HSA:7040] [KO:K13375]
 FCGR2A [HSA:2212] [KO:K06472]",,"Pseudomonas aeruginosa
 病原体         Pandoraea fibrosis 6399 [GN:pfib]",,"トブラマイシン [DR:D00063]
 D-マンニトール [DR:D00062]
 アセチルシステイン [DR:D00221]
 ドルナーゼアルファ [DR:D03896]",,"ICD-11: CA25
 ICD-10: E84
 MeSH: D003550
 OMIM: 219700","PMID:18193900
 著者        Cheung JC, Deber CM
 タイトル      Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
 雑誌        Biochemistry 47:1465-73 (2008)
 DOI:10.1021/bi702209s
 PMID:16554808
 著者        Gadsby DC, Vergani P, Csanady L
 タイトル      The ABC protein turned chloride channel whose failure causes cystic fibrosis.
 雑誌        Nature 440:477-83 (2006)
 DOI:10.1038/nature04712
 PMID:11932230
 著者        Lyczak JB, Cannon CL, Pier GB
 タイトル      Lung infections associated with cystic fibrosis.
 雑誌        Clin Microbiol Rev 15:194-222 (2002)
 DOI:10.1128/CMR.15.2.194&#8211;222.2002
 PMID:18424453 (CFTR TGFB1)
 著者        Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR
 タイトル      Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
 雑誌        Hum Mol Genet 17:2228-37 (2008)
 DOI:10.1093/hmg/ddn123
 PMID:15367919 (FCGR2A)
 著者        De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A
 タイトル      Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
 雑誌        Eur J Hum Genet 13:96-101 (2005)
 DOI:10.1038/sj.ejhg.5201285","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218"">H00218</a>",嚢胞性線維症,"Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.",,"CFTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1080"">1080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05031"">K05031</a>]
 TGFB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7040"">7040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13375"">K13375</a>]
 FCGR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2212"">2212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06472"">K06472</a>]",,"Pseudomonas aeruginosa
 病原体         Pandoraea fibrosis 6399 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pfib"">pfib</a>]",,"トブラマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00063"">D00063</a>]
 D-マンニトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00062"">D00062</a>]
 アセチルシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00221"">D00221</a>]
 ドルナーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03896"">D03896</a>]",,"ICD-11: CA25
 ICD-10: E84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003550"">D003550</a>
 OMIM: <a href=""https://www.omim.org/entry/219700"">219700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18193900"">18193900</a>
 著者        Cheung JC, Deber CM
 タイトル      Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
 雑誌        Biochemistry 47:1465-73 (2008)
 DOI:<a href=""https://doi.org/10.1021/bi702209s"">10.1021/bi702209s</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16554808"">16554808</a>
 著者        Gadsby DC, Vergani P, Csanady L
 タイトル      The ABC protein turned chloride channel whose failure causes cystic fibrosis.
 雑誌        Nature 440:477-83 (2006)
 DOI:<a href=""https://doi.org/10.1038/nature04712"">10.1038/nature04712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11932230"">11932230</a>
 著者        Lyczak JB, Cannon CL, Pier GB
 タイトル      Lung infections associated with cystic fibrosis.
 雑誌        Clin Microbiol Rev 15:194-222 (2002)
 DOI:<a href=""https://doi.org/10.1128/CMR.15.2.194&#8211;222.2002"">10.1128/CMR.15.2.194&#8211;222.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424453"">18424453</a> (CFTR <a href=""https://pubmed.ncbi.nlm.nih.gov/TGFB1)"">TGFB1)</a>
 著者        Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR
 タイトル      Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
 雑誌        Hum Mol Genet 17:2228-37 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn123"">10.1093/hmg/ddn123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15367919"">15367919</a> (FCGR2A)
 著者        De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A
 タイトル      Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
 雑誌        Eur J Hum Genet 13:96-101 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201285"">10.1038/sj.ejhg.5201285</a>"
H00219,"血友病
 下位グループ    血友病A
 血友病B
 フォンウィルブランド病 [DS:H02092]
 血小板型フォンウィルブランド病 [DS:H02093]",,,"Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Von Willebrand disease is caused by quantitative and/or qualitative defects of von Willebrand factor and inherited in both autosomal dominant and recessive manner.",血液疾患,,"(HEMA) F8 [HSA:2157] [KO:K03899]
 (HEMB) F9 [HSA:2158] [KO:K01321]
 (VWD) VWF [HSA:7450] [KO:K03900]
 (Platelet-type) GP1BA [HSA:2811] [KO:K06261]",,,,"デスモプレシン酢酸塩水和物 [DR:D02235]
 乾燥濃縮人血液凝固第VIII因子 [DR:D08798]
 ツロクトコグアルファ [DR:D10227]
 ノナコグアルファ [DR:D05201]
 乾燥人血液凝固第IX因子複合体 [DR:D08794]
 乾燥濃縮人血液凝固第IX因子 [DR:D08797]
 ノナコグガンマ [DR:D10538]
 ノナコグベータペゴル [DR:D10757]
 エプタコグアルファ (活性型) [DR:D00172]
 ルリオクトコグアルファ [DR:D05409]
 エフラロクトコグアルファ [DR:D10539]
 ツロクトコグアルファペゴル [DR:D10758]
 ダモクトコグアルファペゴル [DR:D10759]
 ルリオクトコグアルファペゴル [DR:D10760]
 オクトコグベータ [DR:D10771]
 ロノクトコグアルファ [DR:D10818]
 シモクトコグアルファ [DR:D10842]
 エフトレノナコグアルファ [DR:D10522]
 アルブトレペノナコグアルファ [DR:D10770]
 エミシズマブ [DR:D10821]",,"ICD-11: 3B10.0 3B11.0 3B12
 ICD-10: D66 D67 D68.0
 OMIM: 306700 306900 193400 613554 277480 177820","PMID:17178659
 著者        Franchini M
 タイトル      Advances in the diagnosis and management of von Willebrand disease.
 雑誌        Hematology 11:219-25 (2006)
 DOI:10.1080/10245330600841311
 PMID:16684001
 著者        Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM
 タイトル      Genetic diagnosis of haemophilia and other inherited bleeding disorders.
 雑誌        Haemophilia 12 Suppl 3:82-9 (2006)
 DOI:10.1111/j.1365-2516.2006.01263.x
 PMID:16470522
 著者        Haberichter SL, Shi Q, Montgomery RR
 タイトル      Regulated release of VWF and FVIII and the biologic implications.
 雑誌        Pediatr Blood Cancer 46:547-53 (2006)
 DOI:10.1002/pbc.20658
 PMID:15205640
 著者        Lee JW
 タイトル      Von Willebrand disease, hemophilia A and B, and other factor deficiencies.
 雑誌        Int Anesthesiol Clin 42:59-76 (2004)
 DOI:10.1097/00004311-200404230-00007
 PMID:756222
 著者        Marzullo A, Masci P, Rovacchi G, Toti G, Dompe G
 タイトル      [Gastric leiomyoblastoma]
 雑誌        Arch De Vecchi Anat Patol 62:279-90 (1977)
 PMID:21497427
 著者        Othman M
 タイトル      Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
 雑誌        Blood Rev 25:147-53 (2011)
 DOI:10.1016/j.blre.2011.03.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00219"">H00219</a>","血友病
 下位グループ    血友病A
 血友病B
 フォンウィルブランド病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02092"">H02092</a>]
 血小板型フォンウィルブランド病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02093"">H02093</a>]","Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Von Willebrand disease is caused by quantitative and/or qualitative defects of von Willebrand factor and inherited in both autosomal dominant and recessive manner.",,"(HEMA) F8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2157"">2157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03899"">K03899</a>]
 (HEMB) F9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2158"">2158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01321"">K01321</a>]
 (VWD) VWF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7450"">7450</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03900"">K03900</a>]
 (Platelet-type) GP1BA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2811"">2811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06261"">K06261</a>]",,,,"デスモプレシン酢酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02235"">D02235</a>]
 乾燥濃縮人血液凝固第VIII因子 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08798"">D08798</a>]
 ツロクトコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10227"">D10227</a>]
 ノナコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05201"">D05201</a>]
 乾燥人血液凝固第IX因子複合体 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08794"">D08794</a>]
 乾燥濃縮人血液凝固第IX因子 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08797"">D08797</a>]
 ノナコグガンマ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10538"">D10538</a>]
 ノナコグベータペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10757"">D10757</a>]
 エプタコグアルファ (活性型) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00172"">D00172</a>]
 ルリオクトコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05409"">D05409</a>]
 エフラロクトコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10539"">D10539</a>]
 ツロクトコグアルファペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10758"">D10758</a>]
 ダモクトコグアルファペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10759"">D10759</a>]
 ルリオクトコグアルファペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10760"">D10760</a>]
 オクトコグベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10771"">D10771</a>]
 ロノクトコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10818"">D10818</a>]
 シモクトコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10842"">D10842</a>]
 エフトレノナコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10522"">D10522</a>]
 アルブトレペノナコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10770"">D10770</a>]
 エミシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10821"">D10821</a>]",,"ICD-11: 3B10.0 3B11.0 3B12
 ICD-10: D66 D67 D68.0
 OMIM: <a href=""https://www.omim.org/entry/306700"">306700</a> <a href=""https://www.omim.org/entry/306900"">306900</a> <a href=""https://www.omim.org/entry/193400"">193400</a> <a href=""https://www.omim.org/entry/613554"">613554</a> <a href=""https://www.omim.org/entry/277480"">277480</a> <a href=""https://www.omim.org/entry/177820"">177820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17178659"">17178659</a>
 著者        Franchini M
 タイトル      Advances in the diagnosis and management of von Willebrand disease.
 雑誌        Hematology 11:219-25 (2006)
 DOI:<a href=""https://doi.org/10.1080/10245330600841311"">10.1080/10245330600841311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16684001"">16684001</a>
 著者        Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM
 タイトル      Genetic diagnosis of haemophilia and other inherited bleeding disorders.
 雑誌        Haemophilia 12 Suppl 3:82-9 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2006.01263.x"">10.1111/j.1365-2516.2006.01263.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16470522"">16470522</a>
 著者        Haberichter SL, Shi Q, Montgomery RR
 タイトル      Regulated release of VWF and FVIII and the biologic implications.
 雑誌        Pediatr Blood Cancer 46:547-53 (2006)
 DOI:<a href=""https://doi.org/10.1002/pbc.20658"">10.1002/pbc.20658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15205640"">15205640</a>
 著者        Lee JW
 タイトル      Von Willebrand disease, hemophilia A and B, and other factor deficiencies.
 雑誌        Int Anesthesiol Clin 42:59-76 (2004)
 DOI:<a href=""https://doi.org/10.1097/00004311-200404230-00007"">10.1097/00004311-200404230-00007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/756222"">756222</a>
 著者        Marzullo A, Masci P, Rovacchi G, Toti G, Dompe G
 タイトル      [Gastric leiomyoblastoma]
 雑誌        Arch De Vecchi Anat Patol 62:279-90 (1977)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21497427"">21497427</a>
 著者        Othman M
 タイトル      Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
 雑誌        Blood Rev 25:147-53 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2011.03.003"">10.1016/j.blre.2011.03.003</a>"
H00220,第V因子欠損症,,,"Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C.",血液疾患,,F5 [HSA:2153] [KO:K03902],,,,,,"ICD-11: 3B14.Z
 ICD-10: D68.2
 OMIM: 227400","PMID:16476093
 著者        Yamakage N, Ikejiri M, Okumura K, Takagi A, Murate T, Matushita T, Naoe T, Yamamoto K, Takamatsu J, Yamazaki T, Hamaguchi M, Kojima T
 タイトル      A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.
 雑誌        Haemophilia 12:172-8 (2006)
 DOI:10.1111/j.1365-2516.2006.01206.x
 PMID:9576178
 著者        Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM
 タイトル      Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.
 雑誌        Br J Haematol 101:32-9 (1998)
 DOI:10.1046/j.1365-2141.1998.00664.x
 PMID:7590506
 著者        De Stefano V, Leone G
 タイトル      Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
 雑誌        Haematologica 80:344-56 (1995)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00220"">H00220</a>",第V因子欠損症,"Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C.",,"F5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2153"">2153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03902"">K03902</a>]",,,,,,"ICD-11: 3B14.Z
 ICD-10: D68.2
 OMIM: <a href=""https://www.omim.org/entry/227400"">227400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16476093"">16476093</a>
 著者        Yamakage N, Ikejiri M, Okumura K, Takagi A, Murate T, Matushita T, Naoe T, Yamamoto K, Takamatsu J, Yamazaki T, Hamaguchi M, Kojima T
 タイトル      A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.
 雑誌        Haemophilia 12:172-8 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2006.01206.x"">10.1111/j.1365-2516.2006.01206.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9576178"">9576178</a>
 著者        Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM
 タイトル      Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.
 雑誌        Br J Haematol 101:32-9 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2141.1998.00664.x"">10.1046/j.1365-2141.1998.00664.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7590506"">7590506</a>
 著者        De Stefano V, Leone G
 タイトル      Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
 雑誌        Haematologica 80:344-56 (1995)"
H00221,第Vおよび第VIII因子合併欠乏症,,,"Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as an cargo receptor for transport of coagulation factors V and VIII from ER to Golgi.",血液疾患,,"LMAN1 [HSA:3998] [KO:K10080]
 MCFD2 [HSA:90411] [KO:K20364]",,,,,,"ICD-11: 3B14.Z
 OMIM: 227300 613625","PMID:19141160
 著者        Spreafico M, Peyvandi F
 タイトル      Combined FV and FVIII deficiency.
 雑誌        Haemophilia 14:1201-8 (2008)
 DOI:10.1111/j.1365-2516.2008.01845.x
 PMID:18391077
 著者        Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D
 タイトル      Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
 雑誌        Blood 111:5592-600 (2008)
 DOI:10.1182/blood-2007-10-113951
 PMID:16304051
 著者        Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D
 タイトル      Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
 雑誌        Blood 107:1903-7 (2006)
 DOI:10.1182/blood-2005-09-3620
 PMID:12717434
 著者        Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D
 タイトル      Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
 雑誌        Nat Genet 34:220-5 (2003)
 DOI:10.1038/ng1153","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00221"">H00221</a>",第Vおよび第VIII因子合併欠乏症,"Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as an cargo receptor for transport of coagulation factors V and VIII from ER to Golgi.",,"LMAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3998"">3998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10080"">K10080</a>]
 MCFD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90411"">90411</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20364"">K20364</a>]",,,,,,"ICD-11: 3B14.Z
 OMIM: <a href=""https://www.omim.org/entry/227300"">227300</a> <a href=""https://www.omim.org/entry/613625"">613625</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141160"">19141160</a>
 著者        Spreafico M, Peyvandi F
 タイトル      Combined FV and FVIII deficiency.
 雑誌        Haemophilia 14:1201-8 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01845.x"">10.1111/j.1365-2516.2008.01845.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18391077"">18391077</a>
 著者        Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D
 タイトル      Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
 雑誌        Blood 111:5592-600 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-10-113951"">10.1182/blood-2007-10-113951</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16304051"">16304051</a>
 著者        Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D
 タイトル      Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
 雑誌        Blood 107:1903-7 (2006)
 DOI:<a href=""https://doi.org/10.1182/blood-2005-09-3620"">10.1182/blood-2005-09-3620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12717434"">12717434</a>
 著者        Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D
 タイトル      Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
 雑誌        Nat Genet 34:220-5 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1153"">10.1038/ng1153</a>"
H00222,"無フィブリノゲン血症;
 異常フィブリノーゲン血症",,,"Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.",血液疾患,,"FGA [HSA:2243] [KO:K03903]
 FGB [HSA:2244] [KO:K03904]
 FGG [HSA:2266] [KO:K03905]",,,,乾燥人フィブリノゲン [DR:D08792],,"ICD-11: 3B14.0
 ICD-10: D68.2
 OMIM: 202400","PMID:18564189
 著者        Hill M, Dolan G
 タイトル      Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.
 雑誌        Haemophilia 14:889-97 (2008)
 DOI:10.1111/j.1365-2516.2008.01795.x
 PMID:16999847
 著者        Asselta R, Duga S, Tenchini ML
 タイトル      The molecular basis of quantitative fibrinogen disorders.
 雑誌        J Thromb Haemost 4:2115-29 (2006)
 DOI:10.1111/j.1538-7836.2006.02094.x
 PMID:16855369
 著者        Neerman-Arbez M
 タイトル      Molecular basis of fibrinogen deficiency.
 雑誌        Pathophysiol Haemost Thromb 35:187-98 (2006)
 DOI:10.1159/000093566","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00222"">H00222</a>","無フィブリノゲン血症;
 異常フィブリノーゲン血症","Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.",,"FGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2243"">2243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03903"">K03903</a>]
 FGB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2244"">2244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03904"">K03904</a>]
 FGG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2266"">2266</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03905"">K03905</a>]",,,,"乾燥人フィブリノゲン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08792"">D08792</a>]",,"ICD-11: 3B14.0
 ICD-10: D68.2
 OMIM: <a href=""https://www.omim.org/entry/202400"">202400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18564189"">18564189</a>
 著者        Hill M, Dolan G
 タイトル      Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.
 雑誌        Haemophilia 14:889-97 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01795.x"">10.1111/j.1365-2516.2008.01795.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16999847"">16999847</a>
 著者        Asselta R, Duga S, Tenchini ML
 タイトル      The molecular basis of quantitative fibrinogen disorders.
 雑誌        J Thromb Haemost 4:2115-29 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2006.02094.x"">10.1111/j.1538-7836.2006.02094.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16855369"">16855369</a>
 著者        Neerman-Arbez M
 タイトル      Molecular basis of fibrinogen deficiency.
 雑誌        Pathophysiol Haemost Thromb 35:187-98 (2006)
 DOI:<a href=""https://doi.org/10.1159/000093566"">10.1159/000093566</a>"
H00223,"遺伝性血栓形成傾向
 下位グループ    先天性アンチトロンビン欠損症 [DS:H01381]
 先天性異常フィブリノゲン血症",,,Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation.,血液疾患,,"(THPH1) F2 [HSA:2147] [KO:K01313]
 (THPH2) F5 [HSA:2153] [KO:K03902]
 (THPH3/4) PROC [HSA:5624] [KO:K01344]
 (THPH5/6) PROS1 [HSA:5627] [KO:K03908]
 (THPH7) SERPINC1 [HSA:462] [KO:K03911]
 (THPH8) F9 [HSA:2158] [KO:K01321]
 (THPH10) SERPIND1 [HSA:3053] [KO:K03912]
 (THPH11) HRG [HSA:3273] [KO:K23410]
 (THPH12) THBD [HSA:7056] [KO:K03907]
 FGA [HSA:2243] [KO:K03903]
 FGB [HSA:2244] [KO:K03904]
 FGG [HSA:2266] [KO:K03905]",,,,,,"ICD-11: 3B61.0
 ICD-10: D68.2
 OMIM: 188050 188055 176860 612304 612336 613118 300807 612356 613116 614486 616004","PMID:31577252 (THPH, FGA, FGB, FGG)
 著者        Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
 タイトル      Hereditary thrombophilia.
 雑誌        Acta Biomed 90:44-46 (2019)
 DOI:10.23750/abm.v90i10-S.8758
 PMID:19846852 (THPH8)
 著者        Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR
 タイトル      X-linked thrombophilia with a mutant factor IX (factor IX Padua).
 雑誌        N Engl J Med 361:1671-5 (2009)
 DOI:10.1056/NEJMoa0904377
 PMID:18574041
 著者        Dahlback B
 タイトル      Advances in understanding pathogenic mechanisms of thrombophilic disorders.
 雑誌        Blood 112:19-27 (2008)
 DOI:10.1182/blood-2008-01-077909
 PMID:17024597
 著者        Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P
 タイトル      Inherited thrombophilia and venous thromboembolism.
 雑誌        Semin Thromb Hemost 32:700-8 (2006)
 DOI:10.1055/s-2006-951298
 PMID:12787534
 著者        Buchanan GS, Rodgers GM, Ware Branch D
 タイトル      The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation.
 雑誌        Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003)
 DOI:10.1016/S1521-6934(03)00010-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00223"">H00223</a>","遺伝性血栓形成傾向
 下位グループ    先天性アンチトロンビン欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01381"">H01381</a>]
 先天性異常フィブリノゲン血症",Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation.,,"(THPH1) F2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2147"">2147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01313"">K01313</a>]
 (THPH2) F5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2153"">2153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03902"">K03902</a>]
 (THPH3/4) PROC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5624"">5624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01344"">K01344</a>]
 (THPH5/6) PROS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5627"">5627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03908"">K03908</a>]
 (THPH7) SERPINC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:462"">462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03911"">K03911</a>]
 (THPH8) F9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2158"">2158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01321"">K01321</a>]
 (THPH10) SERPIND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3053"">3053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03912"">K03912</a>]
 (THPH11) HRG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3273"">3273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23410"">K23410</a>]
 (THPH12) THBD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7056"">7056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03907"">K03907</a>]
 FGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2243"">2243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03903"">K03903</a>]
 FGB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2244"">2244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03904"">K03904</a>]
 FGG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2266"">2266</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03905"">K03905</a>]",,,,,,"ICD-11: 3B61.0
 ICD-10: D68.2
 OMIM: <a href=""https://www.omim.org/entry/188050"">188050</a> <a href=""https://www.omim.org/entry/188055"">188055</a> <a href=""https://www.omim.org/entry/176860"">176860</a> <a href=""https://www.omim.org/entry/612304"">612304</a> <a href=""https://www.omim.org/entry/612336"">612336</a> <a href=""https://www.omim.org/entry/613118"">613118</a> <a href=""https://www.omim.org/entry/300807"">300807</a> <a href=""https://www.omim.org/entry/612356"">612356</a> <a href=""https://www.omim.org/entry/613116"">613116</a> <a href=""https://www.omim.org/entry/614486"">614486</a> <a href=""https://www.omim.org/entry/616004"">616004</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31577252"">31577252</a> (THPH, <a href=""https://pubmed.ncbi.nlm.nih.gov/FGA,"">FGA,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGB,"">FGB,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGG)"">FGG)</a>
 著者        Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
 タイトル      Hereditary thrombophilia.
 雑誌        Acta Biomed 90:44-46 (2019)
 DOI:<a href=""https://doi.org/10.23750/abm.v90i10-S.8758"">10.23750/abm.v90i10-S.8758</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19846852"">19846852</a> (THPH8)
 著者        Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR
 タイトル      X-linked thrombophilia with a mutant factor IX (factor IX Padua).
 雑誌        N Engl J Med 361:1671-5 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0904377"">10.1056/NEJMoa0904377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18574041"">18574041</a>
 著者        Dahlback B
 タイトル      Advances in understanding pathogenic mechanisms of thrombophilic disorders.
 雑誌        Blood 112:19-27 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-01-077909"">10.1182/blood-2008-01-077909</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17024597"">17024597</a>
 著者        Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P
 タイトル      Inherited thrombophilia and venous thromboembolism.
 雑誌        Semin Thromb Hemost 32:700-8 (2006)
 DOI:<a href=""https://doi.org/10.1055/s-2006-951298"">10.1055/s-2006-951298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12787534"">12787534</a>
 著者        Buchanan GS, Rodgers GM, Ware Branch D
 タイトル      The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation.
 雑誌        Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1521-6934(03)00010-5"">10.1016/S1521-6934(03)00010-5</a>"
H00224,"ベルナール・スーリエ症候群
 上位グループ    巨大血小板性血小板減少症 [DS:H01740]",,,"Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets.",血液疾患,,"GP1BA [HSA:2811] [KO:K06261]
 GP1BB [HSA:2812] [KO:K06262]
 GP9 [HSA:2815] [KO:K06263]",,,,,,"ICD-11: 3B62.01
 ICD-10: D69.1
 OMIM: 231200 153670","PMID:18081445
 著者        Pham A, Wang J
 タイトル      Bernard-Soulier syndrome: an inherited platelet disorder.
 雑誌        Arch Pathol Lab Med 131:1834-6 (2007)
 DOI:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2
 PMID:17109744
 著者        Lanza F
 タイトル      Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
 雑誌        Orphanet J Rare Dis 1:46 (2006)
 DOI:10.1186/1750-1172-1-46
 PMID:1730088 (GP1BA)
 著者        Miller JL, Lyle VA, Cunningham D
 タイトル      Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
 雑誌        Blood 79:439-46 (1992)
 PMID:8703016 (GP1BB)
 著者        Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA
 タイトル      Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
 雑誌        J Biol Chem 271:22076-80 (1996)
 DOI:10.1074/jbc.271.36.22076
 PMID:9163595 (GP9)
 著者        Noris P, Simsek S, Stibbe J, von dem Borne AE
 タイトル      A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
 雑誌        Br J Haematol 97:312-20 (1997)
 DOI:10.1046/j.1365-2141.1997.582706.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00224"">H00224</a>","ベルナール・スーリエ症候群
 上位グループ    巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets.",,"GP1BA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2811"">2811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06261"">K06261</a>]
 GP1BB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2812"">2812</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06262"">K06262</a>]
 GP9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2815"">2815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06263"">K06263</a>]",,,,,,"ICD-11: 3B62.01
 ICD-10: D69.1
 OMIM: <a href=""https://www.omim.org/entry/231200"">231200</a> <a href=""https://www.omim.org/entry/153670"">153670</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18081445"">18081445</a>
 著者        Pham A, Wang J
 タイトル      Bernard-Soulier syndrome: an inherited platelet disorder.
 雑誌        Arch Pathol Lab Med 131:1834-6 (2007)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2007)131[1834:"">10.1043/1543-2165(2007)131[1834:</a><a href=""https://doi.org/BSAIPD]2.0.CO;2"">BSAIPD]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17109744"">17109744</a>
 著者        Lanza F
 タイトル      Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
 雑誌        Orphanet J Rare Dis 1:46 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-46"">10.1186/1750-1172-1-46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1730088"">1730088</a> (GP1BA)
 著者        Miller JL, Lyle VA, Cunningham D
 タイトル      Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
 雑誌        Blood 79:439-46 (1992)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8703016"">8703016</a> (GP1BB)
 著者        Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA
 タイトル      Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
 雑誌        J Biol Chem 271:22076-80 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.36.22076"">10.1074/jbc.271.36.22076</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9163595"">9163595</a> (GP9)
 著者        Noris P, Simsek S, Stibbe J, von dem Borne AE
 タイトル      A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
 雑誌        Br J Haematol 97:312-20 (1997)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2141.1997.582706.x"">10.1046/j.1365-2141.1997.582706.x</a>"
H00225,血栓性血小板減少性紫斑病,,,Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have acquired autoantibody inhibitors of the ADAMTS13 metalloprotease.,循環器系疾患,,ADAMTS13 [HSA:11093] [KO:K08627],,,,リツキシマブ [DR:D02994],,"ICD-11: 3B64.14
 ICD-10: D69.2
 OMIM: 274150","PMID:18574040
 著者        Sadler JE
 タイトル      Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura.
 雑誌        Blood 112:11-8 (2008)
 DOI:10.1182/blood-2008-02-078170
 PMID:17666281
 著者        Tsai HM
 タイトル      Thrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiency.
 雑誌        Hematol Oncol Clin North Am 21:609-32, v (2007)
 DOI:10.1016/j.hoc.2007.06.003
 PMID:17124092
 著者        Sadler JE
 タイトル      Thrombotic thrombocytopenic purpura: a moving target.
 雑誌        Hematology Am Soc Hematol Educ Program 415-20 (2006)
 DOI:10.1182/asheducation-2006.1.415","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00225"">H00225</a>",血栓性血小板減少性紫斑病,Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have acquired autoantibody inhibitors of the ADAMTS13 metalloprotease.,,"ADAMTS13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11093"">11093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08627"">K08627</a>]",,,,"リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]",,"ICD-11: 3B64.14
 ICD-10: D69.2
 OMIM: <a href=""https://www.omim.org/entry/274150"">274150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18574040"">18574040</a>
 著者        Sadler JE
 タイトル      Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura.
 雑誌        Blood 112:11-8 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-02-078170"">10.1182/blood-2008-02-078170</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17666281"">17666281</a>
 著者        Tsai HM
 タイトル      Thrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiency.
 雑誌        Hematol Oncol Clin North Am 21:609-32, v (2007)
 DOI:<a href=""https://doi.org/10.1016/j.hoc.2007.06.003"">10.1016/j.hoc.2007.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17124092"">17124092</a>
 著者        Sadler JE
 タイトル      Thrombotic thrombocytopenic purpura: a moving target.
 雑誌        Hematology Am Soc Hematol Educ Program 415-20 (2006)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2006.1.415"">10.1182/asheducation-2006.1.415</a>"
H00226,"グランツマン血小板無力症
 上位グループ    血小板型出血性疾患 [DS:H01235]
 巨大血小板性血小板減少症 [DS:H01740]",,,Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.,血液疾患,,"(GT1) ITGA2B [HSA:3674] [KO:K06476]
 (GT2) ITGB3 [HSA:3690] [KO:K06493]",,,,エプタコグアルファ (活性型) [DR:D00172],,"ICD-11: 3B62.0Y
 ICD-10: D69.1
 OMIM: 273800 619267","PMID:16722529
 著者        Nurden AT
 タイトル      Glanzmann thrombasthenia.
 雑誌        Orphanet J Rare Dis 1:10 (2006)
 DOI:10.1186/1750-1172-1-10
 PMID:12487785
 著者        Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D
 タイトル      Glanzmann's thrombasthenia: updated.
 雑誌        Platelets 13:387-93 (2002)
 DOI:10.1080/0953710021000024394
 PMID:1702098 (ITGA2B)
 著者        Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M
 タイトル      A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
 雑誌        J Clin Invest 87:270-6 (1991)
 DOI:10.1172/JCI114982
 PMID:20020534 (ITGA2B, ITGB3)
 著者        Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C
 タイトル      AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
 雑誌        Hum Mutat 31:237-46 (2010)
 DOI:10.1002/humu.21179","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00226"">H00226</a>","グランツマン血小板無力症
 上位グループ    血小板型出血性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01235"">H01235</a>]
 巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]",Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.,,"(GT1) ITGA2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3674"">3674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06476"">K06476</a>]
 (GT2) ITGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3690"">3690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06493"">K06493</a>]",,,,"エプタコグアルファ (活性型) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00172"">D00172</a>]",,"ICD-11: 3B62.0Y
 ICD-10: D69.1
 OMIM: <a href=""https://www.omim.org/entry/273800"">273800</a> <a href=""https://www.omim.org/entry/619267"">619267</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722529"">16722529</a>
 著者        Nurden AT
 タイトル      Glanzmann thrombasthenia.
 雑誌        Orphanet J Rare Dis 1:10 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-10"">10.1186/1750-1172-1-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12487785"">12487785</a>
 著者        Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D
 タイトル      Glanzmann's thrombasthenia: updated.
 雑誌        Platelets 13:387-93 (2002)
 DOI:<a href=""https://doi.org/10.1080/0953710021000024394"">10.1080/0953710021000024394</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1702098"">1702098</a> (ITGA2B)
 著者        Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M
 タイトル      A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
 雑誌        J Clin Invest 87:270-6 (1991)
 DOI:<a href=""https://doi.org/10.1172/JCI114982"">10.1172/JCI114982</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20020534"">20020534</a> (ITGA2B, <a href=""https://pubmed.ncbi.nlm.nih.gov/ITGB3)"">ITGB3)</a>
 著者        Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C
 タイトル      AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
 雑誌        Hum Mutat 31:237-46 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21179"">10.1002/humu.21179</a>"
H00227,先天性無巨核球性血小板減少症,,,"Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene.",血液疾患,,MPL [HSA:4352] [KO:K05082],,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 OMIM: 604498","PMID:19388932
 著者        Ballmaier M, Germeshausen M
 タイトル      Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
 雑誌        Br J Haematol 146:3-16 (2009)
 DOI:10.1111/j.1365-2141.2009.07706.x
 PMID:19327586
 著者        Geddis AE
 タイトル      Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
 雑誌        Hematol Oncol Clin North Am 23:321-31 (2009)
 DOI:10.1016/j.hoc.2009.01.012
 PMID:17666371
 著者        Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL
 タイトル      Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
 雑誌        Haematologica 92:1186-93 (2007)
 DOI:10.3324/haematol.11425
 PMID:16822462
 著者        Geddis AE
 タイトル      Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
 雑誌        Semin Hematol 43:196-203 (2006)
 DOI:10.1053/j.seminhematol.2006.04.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00227"">H00227</a>",先天性無巨核球性血小板減少症,"Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene.",,"MPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4352"">4352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05082"">K05082</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 OMIM: <a href=""https://www.omim.org/entry/604498"">604498</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19388932"">19388932</a>
 著者        Ballmaier M, Germeshausen M
 タイトル      Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
 雑誌        Br J Haematol 146:3-16 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2009.07706.x"">10.1111/j.1365-2141.2009.07706.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19327586"">19327586</a>
 著者        Geddis AE
 タイトル      Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
 雑誌        Hematol Oncol Clin North Am 23:321-31 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.hoc.2009.01.012"">10.1016/j.hoc.2009.01.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17666371"">17666371</a>
 著者        Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL
 タイトル      Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
 雑誌        Haematologica 92:1186-93 (2007)
 DOI:<a href=""https://doi.org/10.3324/haematol.11425"">10.3324/haematol.11425</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16822462"">16822462</a>
 著者        Geddis AE
 タイトル      Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
 雑誌        Semin Hematol 43:196-203 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.seminhematol.2006.04.003"">10.1053/j.seminhematol.2006.04.003</a>"
H00228,"サラセミア
 下位グループ    αサラセミア
 βサラセミア
 X連鎖αサラセミア [DS:H01752]",,,Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis which results from apoptosis of erythroid precursors or hemolysis due to the chain imbalances.,血液疾患,,"(Alpha) HBA1 [HSA:3039] [KO:K13822]
 (Alpha) HBA2 [HSA:3040] [KO:K13822]
 (Beta) HBB [HSA:3043] [KO:K13823]
 (Beta) HBG1 [HSA:3047] [KO:K13824]
 (Beta) HBG2 [HSA:3048] [KO:K13824]
 (ATRX) ATRX [HSA:546] [KO:K10779]",,,,,,"ICD-11: 3A50
 ICD-10: D56.0 D56.1 D56.2 D56.4
 OMIM: 141750 604131 603902 141800 141900 300448 301040 309580 141749","PMID:18406222
 著者        Leung WC, Leung KY, Lau ET, Tang MH, Chan V
 タイトル      Alpha-thalassaemia.
 雑誌        Semin Fetal Neonatal Med 13:215-22 (2008)
 DOI:10.1016/j.siny.2008.02.006
 PMID:16162884
 著者        Rund D, Rachmilewitz E
 タイトル      Beta-thalassemia.
 雑誌        N Engl J Med 353:1135-46 (2005)
 DOI:10.1056/NEJMra050436
 PMID:15660507
 著者        Schrier SL, Angelucci E
 タイトル      New strategies in the treatment of the thalassemias.
 雑誌        Annu Rev Med 56:157-71 (2005)
 DOI:10.1146/annurev.med.56.082103.104718
 PMID:15561674
 著者        Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
 タイトル      Thalassemia.
 雑誌        Hematology Am Soc Hematol Educ Program 14-34 (2004)
 DOI:10.1182/asheducation-2004.1.14
 PMID:20439494
 著者        Miccio A, Blobel GA
 タイトル      Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
 雑誌        Mol Cell Biol 30:3460-70 (2010)
 DOI:10.1128/MCB.00001-10
 PMID:15008259 (HBA1)
 著者        Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC
 タイトル      A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
 雑誌        Hemoglobin 28:1-5 (2004)
 DOI:10.1081/hem-120028881
 PMID:11791872 (HBA1)
 著者        Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH
 タイトル      Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
 雑誌        Hemoglobin 25:391-6 (2001)
 DOI:10.1081/hem-100107876
 PMID:8756078 (HBA2)
 著者        Ayala S, Colomer D, Aymerich M, Pujades A, Vives-Corrons JL
 タイトル      Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.
 雑誌        Am J Hematol 52:144-9 (1996)
 DOI:10.1002/(SICI)1096-8652(199607)52:3<144::AID-AJH3>3.0.CO;2-T
 PMID:15977037 (HBB)
 著者        Ropero P, Villegas A, Martinez M, Ataulfo Gonzalez Fernandez F, Benavente C, Mateo M
 タイトル      A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
 雑誌        Ann Hematol 84:584-7 (2005)
 DOI:10.1007/s00277-004-0992-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00228"">H00228</a>","サラセミア
 下位グループ    αサラセミア
 βサラセミア
 X連鎖αサラセミア [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01752"">H01752</a>]",Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis which results from apoptosis of erythroid precursors or hemolysis due to the chain imbalances.,,"(Alpha) HBA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3039"">3039</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13822"">K13822</a>]
 (Alpha) HBA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3040"">3040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13822"">K13822</a>]
 (Beta) HBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3043"">3043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13823"">K13823</a>]
 (Beta) HBG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3047"">3047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13824"">K13824</a>]
 (Beta) HBG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3048"">3048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13824"">K13824</a>]
 (ATRX) ATRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:546"">546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10779"">K10779</a>]",,,,,,"ICD-11: 3A50
 ICD-10: D56.0 D56.1 D56.2 D56.4
 OMIM: <a href=""https://www.omim.org/entry/141750"">141750</a> <a href=""https://www.omim.org/entry/604131"">604131</a> <a href=""https://www.omim.org/entry/603902"">603902</a> <a href=""https://www.omim.org/entry/141800"">141800</a> <a href=""https://www.omim.org/entry/141900"">141900</a> <a href=""https://www.omim.org/entry/300448"">300448</a> <a href=""https://www.omim.org/entry/301040"">301040</a> <a href=""https://www.omim.org/entry/309580"">309580</a> <a href=""https://www.omim.org/entry/141749"">141749</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18406222"">18406222</a>
 著者        Leung WC, Leung KY, Lau ET, Tang MH, Chan V
 タイトル      Alpha-thalassaemia.
 雑誌        Semin Fetal Neonatal Med 13:215-22 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.siny.2008.02.006"">10.1016/j.siny.2008.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16162884"">16162884</a>
 著者        Rund D, Rachmilewitz E
 タイトル      Beta-thalassemia.
 雑誌        N Engl J Med 353:1135-46 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMra050436"">10.1056/NEJMra050436</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15660507"">15660507</a>
 著者        Schrier SL, Angelucci E
 タイトル      New strategies in the treatment of the thalassemias.
 雑誌        Annu Rev Med 56:157-71 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.med.56.082103.104718"">10.1146/annurev.med.56.082103.104718</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15561674"">15561674</a>
 著者        Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
 タイトル      Thalassemia.
 雑誌        Hematology Am Soc Hematol Educ Program 14-34 (2004)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2004.1.14"">10.1182/asheducation-2004.1.14</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20439494"">20439494</a>
 著者        Miccio A, Blobel GA
 タイトル      Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
 雑誌        Mol Cell Biol 30:3460-70 (2010)
 DOI:<a href=""https://doi.org/10.1128/MCB.00001-10"">10.1128/MCB.00001-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15008259"">15008259</a> (HBA1)
 著者        Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC
 タイトル      A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
 雑誌        Hemoglobin 28:1-5 (2004)
 DOI:<a href=""https://doi.org/10.1081/hem-120028881"">10.1081/hem-120028881</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11791872"">11791872</a> (HBA1)
 著者        Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH
 タイトル      Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
 雑誌        Hemoglobin 25:391-6 (2001)
 DOI:<a href=""https://doi.org/10.1081/hem-100107876"">10.1081/hem-100107876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8756078"">8756078</a> (HBA2)
 著者        Ayala S, Colomer D, Aymerich M, Pujades A, Vives-Corrons JL
 タイトル      Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.
 雑誌        Am J Hematol 52:144-9 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8652(199607)52:"">10.1002/(SICI)1096-8652(199607)52:</a><a href=""https://doi.org/3<144:"">3<144:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJH3>3.0.CO;2-T"">AID-AJH3>3.0.CO;2-T</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15977037"">15977037</a> (HBB)
 著者        Ropero P, Villegas A, Martinez M, Ataulfo Gonzalez Fernandez F, Benavente C, Mateo M
 タイトル      A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
 雑誌        Ann Hematol 84:584-7 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00277-004-0992-2"">10.1007/s00277-004-0992-2</a>"
H00229,鎌状赤血球貧血,,,Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.,血液疾患,,HBB [HSA:3043] [KO:K13823],,,,,,"ICD-11: 3A51
 ICD-10: D57
 OMIM: 603903","PMID:16530854
 著者        Steinberg MH
 タイトル      Pathophysiologically based drug treatment of sickle cell disease.
 雑誌        Trends Pharmacol Sci 27:204-10 (2006)
 DOI:10.1016/j.tips.2006.02.007
 PMID:15020275
 著者        De Franceschi L, Corrocher R
 タイトル      Established and experimental treatments for sickle cell disease.
 雑誌        Haematologica 89:348-56 (2004)
 PMID:10068648
 著者        Bunn HF
 タイトル      Induction of fetal hemoglobin in sickle cell disease.
 雑誌        Blood 93:1787-9 (1999)
 PMID:9287233
 著者        Bunn HF
 タイトル      Pathogenesis and treatment of sickle cell disease.
 雑誌        N Engl J Med 337:762-9 (1997)
 DOI:10.1056/NEJM199709113371107","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00229"">H00229</a>",鎌状赤血球貧血,Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.,,"HBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3043"">3043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13823"">K13823</a>]",,,,,,"ICD-11: 3A51
 ICD-10: D57
 OMIM: <a href=""https://www.omim.org/entry/603903"">603903</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16530854"">16530854</a>
 著者        Steinberg MH
 タイトル      Pathophysiologically based drug treatment of sickle cell disease.
 雑誌        Trends Pharmacol Sci 27:204-10 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.tips.2006.02.007"">10.1016/j.tips.2006.02.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15020275"">15020275</a>
 著者        De Franceschi L, Corrocher R
 タイトル      Established and experimental treatments for sickle cell disease.
 雑誌        Haematologica 89:348-56 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10068648"">10068648</a>
 著者        Bunn HF
 タイトル      Induction of fetal hemoglobin in sickle cell disease.
 雑誌        Blood 93:1787-9 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9287233"">9287233</a>
 著者        Bunn HF
 タイトル      Pathogenesis and treatment of sickle cell disease.
 雑誌        N Engl J Med 337:762-9 (1997)
 DOI:<a href=""https://doi.org/10.1056/NEJM199709113371107"">10.1056/NEJM199709113371107</a>"
H00230,遺伝性球状赤血球症,,,Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.,血液疾患,,"(SPH1) ANK1 [HSA:286] [KO:K10380]
 (SPH2) SPTB [HSA:6710] [KO:K06115]
 (SPH3) SPTA1 [HSA:6708] [KO:K06114]
 (SPH4) SLC4A1 [HSA:6521] [KO:K06573]
 (SPH5) EPB42 [HSA:2038] [KO:K25094]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.0
 OMIM: 182900 616649 270970 612653 612690","PMID:15287938
 著者        Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ
 タイトル      Guidelines for the diagnosis and management of hereditary spherocytosis.
 雑誌        Br J Haematol 126:455-74 (2004)
 DOI:10.1111/j.1365-2141.2004.05052.x
 PMID:15121908
 著者        Shah S, Vega R
 タイトル      Hereditary spherocytosis.
 雑誌        Pediatr Rev 25:168-72 (2004)
 DOI:10.1542/pir.25-5-168
 PMID:15071790
 著者        Eber S, Lux SE
 タイトル      Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
 雑誌        Semin Hematol 41:118-41 (2004)
 DOI:10.1053/j.seminhematol.2004.01.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00230"">H00230</a>",遺伝性球状赤血球症,Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.,,"(SPH1) ANK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286"">286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10380"">K10380</a>]
 (SPH2) SPTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6710"">6710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06115"">K06115</a>]
 (SPH3) SPTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6708"">6708</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06114"">K06114</a>]
 (SPH4) SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]
 (SPH5) EPB42 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2038"">2038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25094"">K25094</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.0
 OMIM: <a href=""https://www.omim.org/entry/182900"">182900</a> <a href=""https://www.omim.org/entry/616649"">616649</a> <a href=""https://www.omim.org/entry/270970"">270970</a> <a href=""https://www.omim.org/entry/612653"">612653</a> <a href=""https://www.omim.org/entry/612690"">612690</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15287938"">15287938</a>
 著者        Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ
 タイトル      Guidelines for the diagnosis and management of hereditary spherocytosis.
 雑誌        Br J Haematol 126:455-74 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2004.05052.x"">10.1111/j.1365-2141.2004.05052.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15121908"">15121908</a>
 著者        Shah S, Vega R
 タイトル      Hereditary spherocytosis.
 雑誌        Pediatr Rev 25:168-72 (2004)
 DOI:<a href=""https://doi.org/10.1542/pir.25-5-168"">10.1542/pir.25-5-168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15071790"">15071790</a>
 著者        Eber S, Lux SE
 タイトル      Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
 雑誌        Semin Hematol 41:118-41 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.seminhematol.2004.01.002"">10.1053/j.seminhematol.2004.01.002</a>"
H00231,遺伝性楕円赤血球症,,,"Hereditary elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1.",血液疾患,,"(EL1) EPB41 [HSA:2035] [KO:K06107]
 (EL2) SPTA1 [HSA:6708] [KO:K06114]
 (EL3) SPTB [HSA:6710] [KO:K06115]",,,,,,"ICD-11: 3A10.2
 ICD-10: D58.1
 OMIM: 611804 130600 617948","PMID:18341630
 著者        An X, Mohandas N
 タイトル      Disorders of red cell membrane.
 雑誌        Br J Haematol 141:367-75 (2008)
 DOI:10.1111/j.1365-2141.2008.07091.x
 PMID:16730867
 著者        Delaunay J
 タイトル      The molecular basis of hereditary red cell membrane disorders.
 雑誌        Blood Rev 21:1-20 (2007)
 DOI:10.1016/j.blre.2006.03.005
 PMID:15071791 (EPB41 SPTA1 SPTB)
 著者        Gallagher PG
 タイトル      Hereditary elliptocytosis: spectrin and protein 4.1R.
 雑誌        Semin Hematol 41:142-64 (2004)
 DOI:10.1053/j.seminhematol.2004.01.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00231"">H00231</a>",遺伝性楕円赤血球症,"Hereditary elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1.",,"(EL1) EPB41 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2035"">2035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06107"">K06107</a>]
 (EL2) SPTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6708"">6708</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06114"">K06114</a>]
 (EL3) SPTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6710"">6710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06115"">K06115</a>]",,,,,,"ICD-11: 3A10.2
 ICD-10: D58.1
 OMIM: <a href=""https://www.omim.org/entry/611804"">611804</a> <a href=""https://www.omim.org/entry/130600"">130600</a> <a href=""https://www.omim.org/entry/617948"">617948</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18341630"">18341630</a>
 著者        An X, Mohandas N
 タイトル      Disorders of red cell membrane.
 雑誌        Br J Haematol 141:367-75 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2008.07091.x"">10.1111/j.1365-2141.2008.07091.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16730867"">16730867</a>
 著者        Delaunay J
 タイトル      The molecular basis of hereditary red cell membrane disorders.
 雑誌        Blood Rev 21:1-20 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2006.03.005"">10.1016/j.blre.2006.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15071791"">15071791</a> (EPB41 <a href=""https://pubmed.ncbi.nlm.nih.gov/SPTA1"">SPTA1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SPTB)"">SPTB)</a>
 著者        Gallagher PG
 タイトル      Hereditary elliptocytosis: spectrin and protein 4.1R.
 雑誌        Semin Hematol 41:142-64 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.seminhematol.2004.01.003"">10.1053/j.seminhematol.2004.01.003</a>"
H00232,"遺伝性有口赤血球症
 下位グループ    脱水型遺伝性有口赤血球症 (DHS) [DS:H01978]
 Overhydrated hereditary stomatocytosis (OHS) [DS:H01979]
 家族性偽高カリウム血症 (FP)
 Cryohydrocytosis (CHC)",,,"Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium.",血液疾患,,"(OHS) RHAG [HSA:6005] [KO:K06580]
 (DHS1) PIEZO1 [HSA:9780] [KO:K22128]
 (DHS2) KCNN4 [HSA:3783] [KO:K04945]
 (FP) ABCB6 [HSA:10058] [KO:K05661]
 (CHC) SLC4A1 [HSA:6521] [KO:K06573]
 (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: 185000 194380 616689 609153 185020 608885","PMID:19261491
 著者        Bruce LJ
 タイトル      Hereditary stomatocytosis and cation leaky red cells--recent developments.
 雑誌        Blood Cells Mol Dis 42:216-22 (2009)
 DOI:10.1016/j.bcmd.2009.01.014
 PMID:15071792
 著者        Delaunay J
 タイトル      The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
 雑誌        Semin Hematol 41:165-72 (2004)
 DOI:10.1053/j.seminhematol.2004.02.005
 PMID:10088641
 著者        Delaunay J, Stewart G, Iolascon A
 タイトル      Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
 雑誌        Curr Opin Hematol 6:110-4 (1999)
 DOI:10.1097/00062752-199903000-00009
 PMID:27756835
 著者        Andolfo I, Russo R, Gambale A, Iolascon A
 タイトル      New insights on hereditary erythrocyte membrane defects.
 雑誌        Haematologica 101:1284-1294 (2016)
 DOI:10.3324/haematol.2016.142463
 PMID:21791420
 著者        Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ
 タイトル      Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
 雑誌        Blood 118:5267-77 (2011)
 DOI:10.1182/blood-2010-12-326645","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00232"">H00232</a>","遺伝性有口赤血球症
 下位グループ    脱水型遺伝性有口赤血球症 (DHS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01978"">H01978</a>]
 Overhydrated hereditary stomatocytosis (OHS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01979"">H01979</a>]
 家族性偽高カリウム血症 (FP)
 Cryohydrocytosis (CHC)","Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium.",,"(OHS) RHAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6005"">6005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06580"">K06580</a>]
 (DHS1) PIEZO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9780"">9780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22128"">K22128</a>]
 (DHS2) KCNN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3783"">3783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04945"">K04945</a>]
 (FP) ABCB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10058"">10058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05661"">K05661</a>]
 (CHC) SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]
 (SDCHCN) SLC2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6513"">6513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07299"">K07299</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/185000"">185000</a> <a href=""https://www.omim.org/entry/194380"">194380</a> <a href=""https://www.omim.org/entry/616689"">616689</a> <a href=""https://www.omim.org/entry/609153"">609153</a> <a href=""https://www.omim.org/entry/185020"">185020</a> <a href=""https://www.omim.org/entry/608885"">608885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19261491"">19261491</a>
 著者        Bruce LJ
 タイトル      Hereditary stomatocytosis and cation leaky red cells--recent developments.
 雑誌        Blood Cells Mol Dis 42:216-22 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bcmd.2009.01.014"">10.1016/j.bcmd.2009.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15071792"">15071792</a>
 著者        Delaunay J
 タイトル      The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
 雑誌        Semin Hematol 41:165-72 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.seminhematol.2004.02.005"">10.1053/j.seminhematol.2004.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10088641"">10088641</a>
 著者        Delaunay J, Stewart G, Iolascon A
 タイトル      Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
 雑誌        Curr Opin Hematol 6:110-4 (1999)
 DOI:<a href=""https://doi.org/10.1097/00062752-199903000-00009"">10.1097/00062752-199903000-00009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27756835"">27756835</a>
 著者        Andolfo I, Russo R, Gambale A, Iolascon A
 タイトル      New insights on hereditary erythrocyte membrane defects.
 雑誌        Haematologica 101:1284-1294 (2016)
 DOI:<a href=""https://doi.org/10.3324/haematol.2016.142463"">10.3324/haematol.2016.142463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21791420"">21791420</a>
 著者        Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ
 タイトル      Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
 雑誌        Blood 118:5267-77 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-12-326645"">10.1182/blood-2010-12-326645</a>"
H00233,"MYH9 異常症;
 腎炎や感音性難聴を伴う(伴わない)巨大血小板性血小板減少症及び顆粒球内封入体 (MATINS)
 下位グループ    メイ-ヘグリン異常症 [DS:H02051]
 セバスチャン症候群 [DS:H02052]
 エプスタイン症候群 [DS:H00578]
 フェクトナー症候群 [DS:H02053]
 上位グループ    巨大血小板性血小板減少症 [DS:H01740]",,,"The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies have not been described.",循環器系疾患,,MYH9 [HSA:4627] [KO:K10352],,,,,,"ICD-11: 3B64.01
 ICD-10: D72.0
 MeSH: C535507
 OMIM: 155100","PMID:19408192
 著者        Althaus K, Greinacher A
 タイトル      MYH9-related platelet disorders.
 雑誌        Semin Thromb Hemost 35:189-203 (2009)
 DOI:10.1055/s-0029-1220327
 PMID:17655694
 著者        Selleng K, Lubenow LE, Greinacher A, Warkentin TE
 タイトル      Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
 雑誌        Eur J Haematol 79:263-8 (2007)
 DOI:10.1111/j.1600-0609.2007.00913.x
 PMID:16162639
 著者        Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M
 タイトル      Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
 雑誌        Hum Mol Genet 14:3169-78 (2005)
 DOI:10.1093/hmg/ddi344
 PMID:16098078
 著者        Dong F, Li S, Pujol-Moix N, Luban NL, Shin SW, Seo JH, Ruiz-Saez A, Demeter J, Langdon S, Kelley MJ
 タイトル      Genotype-phenotype correlation in MYH9-related thrombocytopenia.
 雑誌        Br J Haematol 130:620-7 (2005)
 DOI:10.1111/j.1365-2141.2005.05658.x
 PMID:12161364
 著者        Balduini CL, Iolascon A, Savoia A
 タイトル      Inherited thrombocytopenias: from genes to therapy.
 雑誌        Haematologica 87:860-80 (2002)
 PMID:10973259
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:10.1038/79063
 PMID:1449176
 著者        Brodie HA, Chole RA, Griffin GC, White JG
 タイトル      Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
 雑誌        Am J Otol 13:507-11 (1992)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>","MYH9 異常症;
 腎炎や感音性難聴を伴う(伴わない)巨大血小板性血小板減少症及び顆粒球内封入体 (MATINS)
 下位グループ    メイ-ヘグリン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02051"">H02051</a>]
 セバスチャン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02052"">H02052</a>]
 エプスタイン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00578"">H00578</a>]
 フェクトナー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02053"">H02053</a>]
 上位グループ    巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies have not been described.",,"MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D72.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535507"">C535507</a>
 OMIM: <a href=""https://www.omim.org/entry/155100"">155100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19408192"">19408192</a>
 著者        Althaus K, Greinacher A
 タイトル      MYH9-related platelet disorders.
 雑誌        Semin Thromb Hemost 35:189-203 (2009)
 DOI:<a href=""https://doi.org/10.1055/s-0029-1220327"">10.1055/s-0029-1220327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17655694"">17655694</a>
 著者        Selleng K, Lubenow LE, Greinacher A, Warkentin TE
 タイトル      Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
 雑誌        Eur J Haematol 79:263-8 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0609.2007.00913.x"">10.1111/j.1600-0609.2007.00913.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16162639"">16162639</a>
 著者        Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M
 タイトル      Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
 雑誌        Hum Mol Genet 14:3169-78 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi344"">10.1093/hmg/ddi344</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16098078"">16098078</a>
 著者        Dong F, Li S, Pujol-Moix N, Luban NL, Shin SW, Seo JH, Ruiz-Saez A, Demeter J, Langdon S, Kelley MJ
 タイトル      Genotype-phenotype correlation in MYH9-related thrombocytopenia.
 雑誌        Br J Haematol 130:620-7 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2005.05658.x"">10.1111/j.1365-2141.2005.05658.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12161364"">12161364</a>
 著者        Balduini CL, Iolascon A, Savoia A
 タイトル      Inherited thrombocytopenias: from genes to therapy.
 雑誌        Haematologica 87:860-80 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973259"">10973259</a>
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/79063"">10.1038/79063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1449176"">1449176</a>
 著者        Brodie HA, Chole RA, Griffin GC, White JG
 タイトル      Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
 雑誌        Am J Otol 13:507-11 (1992)"
H00234,ペルゲル・フエット核異常,,,Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.,血液疾患,,LBR [HSA:3930] [KO:K19532],,,,,,"ICD-11: 4B0Y
 ICD-10: D72.0
 OMIM: 169400","PMID:17467691
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:10.1016/j.yexcr.2007.03.028
 PMID:17245605
 著者        Hoffmann K, Sperling K, Olins AL, Olins DE
 タイトル      The granulocyte nucleus and lamin B receptor: avoiding the ovoid.
 雑誌        Chromosoma 116:227-35 (2007)
 DOI:10.1007/s00412-007-0094-8
 PMID:14684694
 著者        Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC
 タイトル      Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
 雑誌        J Med Genet 40:937-41 (2003)
 DOI:10.1136/jmg.40.12.937","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00234"">H00234</a>",ペルゲル・フエット核異常,Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.,,"LBR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3930"">3930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19532"">K19532</a>]",,,,,,"ICD-11: 4B0Y
 ICD-10: D72.0
 OMIM: <a href=""https://www.omim.org/entry/169400"">169400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17467691"">17467691</a>
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2007.03.028"">10.1016/j.yexcr.2007.03.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17245605"">17245605</a>
 著者        Hoffmann K, Sperling K, Olins AL, Olins DE
 タイトル      The granulocyte nucleus and lamin B receptor: avoiding the ovoid.
 雑誌        Chromosoma 116:227-35 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00412-007-0094-8"">10.1007/s00412-007-0094-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14684694"">14684694</a>
 著者        Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC
 タイトル      Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
 雑誌        J Med Genet 40:937-41 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.12.937"">10.1136/jmg.40.12.937</a>"
H00235,メトヘモグロビン血症,,,Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.,血液疾患,,"CYB5R3 [HSA:1727] [KO:K00326]
 CYB5A [HSA:1528] [KO:K23490]
 HBA1 [HSA:3039] [KO:K13822]
 HBB [HSA:3043] [KO:K13823]",,,,メチルチオニニウム塩化物水和物 [DR:D10537],,"ICD-11: 3A91 3A92
 ICD-10: D74.0
 OMIM: 250800 250790 617971 617973","PMID:18318771
 著者        Percy MJ, Lappin TR
 タイトル      Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
 雑誌        Br J Haematol 141:298-308 (2008)
 DOI:10.1111/j.1365-2141.2008.07017.x
 PMID:18202104
 著者        Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E
 タイトル      Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
 雑誌        Brain 131:760-1 (2008)
 DOI:10.1093/brain/awm337
 PMID:2107882
 著者        Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
 タイトル      Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
 雑誌        Blood 75:1408-13 (1990)
 PMID:8168836
 著者        Giordano SJ, Kaftory A, Steggles AW
 タイトル      A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.
 雑誌        Hum Genet 93:568-70 (1994)
 DOI:10.1007/BF00202825
 PMID:8416301
 著者        Mansouri A, Lurie AA
 タイトル      Concise review: methemoglobinemia.
 雑誌        Am J Hematol 42:7-12 (1993)
 DOI:10.1002/ajh.2830420104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00235"">H00235</a>",メトヘモグロビン血症,Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.,,"CYB5R3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1727"">1727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00326"">K00326</a>]
 CYB5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1528"">1528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23490"">K23490</a>]
 HBA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3039"">3039</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13822"">K13822</a>]
 HBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3043"">3043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13823"">K13823</a>]",,,,"メチルチオニニウム塩化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10537"">D10537</a>]",,"ICD-11: 3A91 3A92
 ICD-10: D74.0
 OMIM: <a href=""https://www.omim.org/entry/250800"">250800</a> <a href=""https://www.omim.org/entry/250790"">250790</a> <a href=""https://www.omim.org/entry/617971"">617971</a> <a href=""https://www.omim.org/entry/617973"">617973</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18318771"">18318771</a>
 著者        Percy MJ, Lappin TR
 タイトル      Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
 雑誌        Br J Haematol 141:298-308 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2008.07017.x"">10.1111/j.1365-2141.2008.07017.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202104"">18202104</a>
 著者        Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E
 タイトル      Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
 雑誌        Brain 131:760-1 (2008)
 DOI:<a href=""https://doi.org/10.1093/brain/awm337"">10.1093/brain/awm337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2107882"">2107882</a>
 著者        Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
 タイトル      Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
 雑誌        Blood 75:1408-13 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8168836"">8168836</a>
 著者        Giordano SJ, Kaftory A, Steggles AW
 タイトル      A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.
 雑誌        Hum Genet 93:568-70 (1994)
 DOI:<a href=""https://doi.org/10.1007/BF00202825"">10.1007/BF00202825</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8416301"">8416301</a>
 著者        Mansouri A, Lurie AA
 タイトル      Concise review: methemoglobinemia.
 雑誌        Am J Hematol 42:7-12 (1993)
 DOI:<a href=""https://doi.org/10.1002/ajh.2830420104"">10.1002/ajh.2830420104</a>"
H00236,"先天性赤血球増加症;
 家族性赤血球増加症",,,Familial and congenital polycythemia/erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia sensing. In primary polycythemias there is an innate defect in the hematopoietic progenitors which allows constitutive overproduction whereas in secondary polycythemias normal progenitors are acted on by serum erythropoietin.,血液疾患,,"(ECYT1) EPOR [HSA:2057] [KO:K05079]
 (ECYT1) JAK2 [HSA:3717] [KO:K04447]
 (ECYT1) SH2B3 [HSA:10019] [KO:K12459]
 (ECYT2) VHL [HSA:7428] [KO:K03871]
 (ECYT3) EGLN1 [HSA:54583] [KO:K09592]
 (ECYT4) EPAS1 [HSA:2034] [KO:K09095]
 (ECYT5) EPO [HSA:2056] [KO:K05437]
 (ECYT6) HBB [HSA:3043] [KO:K13823]
 (ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
 (ECYT8) BPGM [HSA:669] [KO:K01837]",,,,,,"ICD-11: 3A80
 ICD-10: D75.0
 OMIM: 133100 263400 609820 611783 617907 617980 617981 222800","PMID:18538455 (ECYT2, ECYT3, ECYT4)
 著者        Lee FS
 タイトル      Genetic causes of erythrocytosis and the oxygen-sensing pathway.
 雑誌        Blood Rev 22:321-32 (2008)
 DOI:10.1016/j.blre.2008.04.003
 PMID:17454194 (ECYT1, ECYT2, ECYT3, ECYT5)
 著者        Percy MJ
 タイトル      Genetically heterogeneous origins of idiopathic erythrocytosis.
 雑誌        Hematology 12:131-9 (2007)
 DOI:10.1080/10245330601111979
 PMID:15642677
 著者        Gordeuk VR, Stockton DW, Prchal JT
 タイトル      Congenital polycythemias/erythrocytoses.
 雑誌        Haematologica 90:109-16 (2005)
 PMID:29514032 (ECYT5)
 著者        Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
 タイトル      A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
 雑誌        N Engl J Med 378:924-930 (2018)
 DOI:10.1056/NEJMoa1709064
 PMID:17795074 (ECYT6)
 著者        Stamatoyannopoulos G, Yoshida A, Adamson J, Heinenberg S
 タイトル      Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity.
 雑誌        Science 159:741-3 (1968)
 DOI:10.1126/science.159.3816.741
 PMID:2227935 (ECYT7)
 著者        Mamalaki A, Horanyi M, Szelenyi J, Moschonas NK
 タイトル      Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.
 雑誌        Hum Genet 85:509-12 (1990)
 DOI:10.1007/BF00194226
 PMID:15054810 (ECYT8)
 著者        Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
 タイトル      Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
 雑誌        Am J Hematol 75:205-8 (2004)
 DOI:10.1002/ajh.20014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00236"">H00236</a>","先天性赤血球増加症;
 家族性赤血球増加症",Familial and congenital polycythemia/erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia sensing. In primary polycythemias there is an innate defect in the hematopoietic progenitors which allows constitutive overproduction whereas in secondary polycythemias normal progenitors are acted on by serum erythropoietin.,,"(ECYT1) EPOR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2057"">2057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05079"">K05079</a>]
 (ECYT1) JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 (ECYT1) SH2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10019"">10019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12459"">K12459</a>]
 (ECYT2) VHL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7428"">7428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03871"">K03871</a>]
 (ECYT3) EGLN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54583"">54583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09592"">K09592</a>]
 (ECYT4) EPAS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2034"">2034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09095"">K09095</a>]
 (ECYT5) EPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2056"">2056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05437"">K05437</a>]
 (ECYT6) HBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3043"">3043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13823"">K13823</a>]
 (ECYT7) HBA1/2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3039"">3039</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3040"">3040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13822"">K13822</a>]
 (ECYT8) BPGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:669"">669</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01837"">K01837</a>]",,,,,,"ICD-11: 3A80
 ICD-10: D75.0
 OMIM: <a href=""https://www.omim.org/entry/133100"">133100</a> <a href=""https://www.omim.org/entry/263400"">263400</a> <a href=""https://www.omim.org/entry/609820"">609820</a> <a href=""https://www.omim.org/entry/611783"">611783</a> <a href=""https://www.omim.org/entry/617907"">617907</a> <a href=""https://www.omim.org/entry/617980"">617980</a> <a href=""https://www.omim.org/entry/617981"">617981</a> <a href=""https://www.omim.org/entry/222800"">222800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18538455"">18538455</a> (ECYT2, <a href=""https://pubmed.ncbi.nlm.nih.gov/ECYT3,"">ECYT3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ECYT4)"">ECYT4)</a>
 著者        Lee FS
 タイトル      Genetic causes of erythrocytosis and the oxygen-sensing pathway.
 雑誌        Blood Rev 22:321-32 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2008.04.003"">10.1016/j.blre.2008.04.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17454194"">17454194</a> (ECYT1, <a href=""https://pubmed.ncbi.nlm.nih.gov/ECYT2,"">ECYT2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ECYT3,"">ECYT3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ECYT5)"">ECYT5)</a>
 著者        Percy MJ
 タイトル      Genetically heterogeneous origins of idiopathic erythrocytosis.
 雑誌        Hematology 12:131-9 (2007)
 DOI:<a href=""https://doi.org/10.1080/10245330601111979"">10.1080/10245330601111979</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15642677"">15642677</a>
 著者        Gordeuk VR, Stockton DW, Prchal JT
 タイトル      Congenital polycythemias/erythrocytoses.
 雑誌        Haematologica 90:109-16 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29514032"">29514032</a> (ECYT5)
 著者        Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
 タイトル      A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
 雑誌        N Engl J Med 378:924-930 (2018)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1709064"">10.1056/NEJMoa1709064</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17795074"">17795074</a> (ECYT6)
 著者        Stamatoyannopoulos G, Yoshida A, Adamson J, Heinenberg S
 タイトル      Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity.
 雑誌        Science 159:741-3 (1968)
 DOI:<a href=""https://doi.org/10.1126/science.159.3816.741"">10.1126/science.159.3816.741</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2227935"">2227935</a> (ECYT7)
 著者        Mamalaki A, Horanyi M, Szelenyi J, Moschonas NK
 タイトル      Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.
 雑誌        Hum Genet 85:509-12 (1990)
 DOI:<a href=""https://doi.org/10.1007/BF00194226"">10.1007/BF00194226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15054810"">15054810</a> (ECYT8)
 著者        Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
 タイトル      Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
 雑誌        Am J Hematol 75:205-8 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajh.20014"">10.1002/ajh.20014</a>"
H00237,ダイアモンド・ブラックファン貧血,,,"Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors.",リボソーム病,,"(DBA) RPS19 [HSA:6223] [KO:K02966]
 (DBA3) RPS24 [HSA:6229] [KO:K02974]
 (DBA4) RPS17 [HSA:6218] [KO:K02962]
 (DBA5) RPL35A [HSA:6165] [KO:K02917]
 (DBA6) RPL5 [HSA:6125] [KO:K02932]
 (DBA7) RPL11 [HSA:6135] [KO:K02868]
 (DBA8) RPS7 [HSA:6201] [KO:K02993]
 (DBA9) RPS10 [HSA:6204] [KO:K02947]
 (DBA10) RPS26 [HSA:6231] [KO:K02976]
 (DBA11) RPL26 [HSA:6154] [KO:K02898]
 (DBA12) RPL15 [HSA:6138] [KO:K02877]
 (DBA13) RPS29 [HSA:6235] [KO:K02980]
 (DBA14) TSR2 [HSA:90121] [KO:K14800]
 (DBA15) RPS28 [HSA:6234] [KO:K02979]
 (DBA16) RPL27 [HSA:6155] [KO:K02901]
 (DBA17) RPS27 [HSA:6232] [KO:K02978]
 (DBA18) RPL18 [HSA:6141] [KO:K02883]
 (DBA19) RPL35 [HSA:11224] [KO:K02918]
 (DBA20) RPS15A [HSA:6210] [KO:K02957]",,,,,,"ICD-11: 3A60.1
 ICD-10: D61.0
 MeSH: D029503
 OMIM: 105650 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 300946 606164 617408 617409 618310 618312 618313","PMID:18671700
 著者        Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM
 タイトル      Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
 雑誌        Br J Haematol 142:859-76 (2008)
 DOI:10.1111/j.1365-2141.2008.07269.x
 PMID:17164339
 著者        Flygare J, Karlsson S
 タイトル      Diamond-Blackfan anemia: erythropoiesis lost in translation.
 雑誌        Blood 109:3152-4 (2007)
 DOI:10.1182/blood-2006-09-001222
 PMID:16942586
 著者        Gazda HT, Sieff CA
 タイトル      Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
 雑誌        Br J Haematol 135:149-57 (2006)
 DOI:10.1111/j.1365-2141.2006.06268.x
 PMID:20116044
 著者        Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT
 タイトル      Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
 雑誌        Am J Hum Genet 86:222-8 (2010)
 DOI:10.1016/j.ajhg.2009.12.015
 PMID:23812780
 著者        Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT
 タイトル      Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
 雑誌        Hum Genet 132:1265-74 (2013)
 DOI:10.1007/s00439-013-1326-z
 PMID:24829207
 著者        Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA
 タイトル      Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
 雑誌        Blood 124:24-32 (2014)
 DOI:10.1182/blood-2013-11-540278
 PMID:24942156
 著者        Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
 タイトル      Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
 雑誌        Am J Med Genet A 164A:2240-9 (2014)
 DOI:10.1002/ajmg.a.36633
 PMID:28280134
 著者        Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA
 タイトル      Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
 雑誌        J Med Genet 54:417-425 (2017)
 DOI:10.1136/jmedgenet-2016-104346
 PMID:27909223
 著者        Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E
 タイトル      Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
 雑誌        Haematologica 102:e93-e96 (2017)
 DOI:10.3324/haematol.2016.153932","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00237"">H00237</a>",ダイアモンド・ブラックファン貧血,"Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors.",,"(DBA) RPS19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6223"">6223</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02966"">K02966</a>]
 (DBA3) RPS24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6229"">6229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02974"">K02974</a>]
 (DBA4) RPS17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6218"">6218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02962"">K02962</a>]
 (DBA5) RPL35A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6165"">6165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02917"">K02917</a>]
 (DBA6) RPL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6125"">6125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02932"">K02932</a>]
 (DBA7) RPL11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6135"">6135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02868"">K02868</a>]
 (DBA8) RPS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6201"">6201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02993"">K02993</a>]
 (DBA9) RPS10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6204"">6204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02947"">K02947</a>]
 (DBA10) RPS26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6231"">6231</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02976"">K02976</a>]
 (DBA11) RPL26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6154"">6154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02898"">K02898</a>]
 (DBA12) RPL15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6138"">6138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02877"">K02877</a>]
 (DBA13) RPS29 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6235"">6235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02980"">K02980</a>]
 (DBA14) TSR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90121"">90121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14800"">K14800</a>]
 (DBA15) RPS28 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6234"">6234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02979"">K02979</a>]
 (DBA16) RPL27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6155"">6155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02901"">K02901</a>]
 (DBA17) RPS27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6232"">6232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02978"">K02978</a>]
 (DBA18) RPL18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6141"">6141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02883"">K02883</a>]
 (DBA19) RPL35 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11224"">11224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02918"">K02918</a>]
 (DBA20) RPS15A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6210"">6210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02957"">K02957</a>]",,,,,,"ICD-11: 3A60.1
 ICD-10: D61.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029503"">D029503</a>
 OMIM: <a href=""https://www.omim.org/entry/105650"">105650</a> <a href=""https://www.omim.org/entry/610629"">610629</a> <a href=""https://www.omim.org/entry/612527"">612527</a> <a href=""https://www.omim.org/entry/612528"">612528</a> <a href=""https://www.omim.org/entry/612561"">612561</a> <a href=""https://www.omim.org/entry/612562"">612562</a> <a href=""https://www.omim.org/entry/612563"">612563</a> <a href=""https://www.omim.org/entry/613308"">613308</a> <a href=""https://www.omim.org/entry/613309"">613309</a> <a href=""https://www.omim.org/entry/614900"">614900</a> <a href=""https://www.omim.org/entry/615550"">615550</a> <a href=""https://www.omim.org/entry/615909"">615909</a> <a href=""https://www.omim.org/entry/300946"">300946</a> <a href=""https://www.omim.org/entry/606164"">606164</a> <a href=""https://www.omim.org/entry/617408"">617408</a> <a href=""https://www.omim.org/entry/617409"">617409</a> <a href=""https://www.omim.org/entry/618310"">618310</a> <a href=""https://www.omim.org/entry/618312"">618312</a> <a href=""https://www.omim.org/entry/618313"">618313</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18671700"">18671700</a>
 著者        Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM
 タイトル      Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
 雑誌        Br J Haematol 142:859-76 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2008.07269.x"">10.1111/j.1365-2141.2008.07269.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17164339"">17164339</a>
 著者        Flygare J, Karlsson S
 タイトル      Diamond-Blackfan anemia: erythropoiesis lost in translation.
 雑誌        Blood 109:3152-4 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2006-09-001222"">10.1182/blood-2006-09-001222</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16942586"">16942586</a>
 著者        Gazda HT, Sieff CA
 タイトル      Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
 雑誌        Br J Haematol 135:149-57 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2006.06268.x"">10.1111/j.1365-2141.2006.06268.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20116044"">20116044</a>
 著者        Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT
 タイトル      Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
 雑誌        Am J Hum Genet 86:222-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.015"">10.1016/j.ajhg.2009.12.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23812780"">23812780</a>
 著者        Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT
 タイトル      Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
 雑誌        Hum Genet 132:1265-74 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1326-z"">10.1007/s00439-013-1326-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24829207"">24829207</a>
 著者        Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA
 タイトル      Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
 雑誌        Blood 124:24-32 (2014)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-11-540278"">10.1182/blood-2013-11-540278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24942156"">24942156</a>
 著者        Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
 タイトル      Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
 雑誌        Am J Med Genet A 164A:2240-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36633"">10.1002/ajmg.a.36633</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28280134"">28280134</a>
 著者        Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA
 タイトル      Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
 雑誌        J Med Genet 54:417-425 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104346"">10.1136/jmedgenet-2016-104346</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27909223"">27909223</a>
 著者        Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E
 タイトル      Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
 雑誌        Haematologica 102:e93-e96 (2017)
 DOI:<a href=""https://doi.org/10.3324/haematol.2016.153932"">10.3324/haematol.2016.153932</a>"
H00238,ファンコニ貧血,,,"Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).",血液疾患,,"(FANCA) FANCA [HSA:2175] [KO:K10888]
 (FANCB) FANCB [HSA:2187] [KO:K10889]
 (FANCC) FANCC [HSA:2176] [KO:K10890]
 (FANCD1) BRCA2 [HSA:675] [KO:K08775]
 (FANCD2) FANCD2 [HSA:2177] [KO:K10891]
 (FANCE) FANCE [HSA:2178] [KO:K10892]
 (FANCF) FANCF [HSA:2188] [KO:K10893]
 (FANCG) FANCG [HSA:2189] [KO:K10894]
 (FANCI) FANCI [HSA:55215] [KO:K10895]
 (FANCJ) BRIP1 [HSA:83990] [KO:K15362]
 (FANCL) FANCL [HSA:55120] [KO:K10606]
 (FANCM) FANCM [HSA:57697] [KO:K10896]
 (FANCN) PALB2 [HSA:79728] [KO:K10897]
 (FANCO) RAD51C [HSA:5889] [KO:K10870]
 (FANCP) SLX4 [HSA:84464] [KO:K10484]
 (FANCQ) ERCC4 [HSA:2072] [KO:K10848]
 (FANCR) RAD51 [HSA:5888] [KO:K04482]
 (FANCS) BRCA1 [HSA:672] [KO:K10605]
 (FANCT) UBE2T [HSA:29089] [KO:K13960]
 (FANCU) XRCC2 [HSA:7516] [KO:K10879]
 (FANCV) MAD2L2 [HSA:10459] [KO:K13728]
 (FANCW) RFWD3 [HSA:55159] [KO:K15691]",,,,シクロホスファミド水和物 [DR:D00287],,"ICD-11: 3A70.0
 ICD-10: D61.0
 OMIM: 227650 300514 227645 605724 227646 600901 603467 614082 609053 609054 614083 610832 613390 613951 615272 617244 617883 616435 617247 617243 617784","PMID:18995829
 著者        Cohn MA, D'Andrea AD
 タイトル      Chromatin recruitment of DNA repair proteins: lessons from the fanconi anemia and double-strand break repair pathways.
 雑誌        Mol Cell 32:306-12 (2008)
 DOI:10.1016/j.molcel.2008.10.009
 PMID:19101576
 著者        Rego MA, Kolling FW 4th, Howlett NG
 タイトル      The Fanconi anemia protein interaction network: casting a wide net.
 雑誌        Mutat Res 668:27-41 (2009)
 DOI:10.1016/j.mrfmmm.2008.11.018
 PMID:18047734 (FANCA - FANCN)
 著者        Jacquemont C, Taniguchi T
 タイトル      The Fanconi anemia pathway and ubiquitin.
 雑誌        BMC Biochem 8 Suppl 1:S10 (2007)
 DOI:10.1186/1471-2091-8-S1-S10
 PMID:20400963 (FANCO)
 著者        Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG
 タイトル      Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
 雑誌        Nat Genet 42:406-9 (2010)
 DOI:10.1038/ng.570
 PMID:21240275 (FANCP)
 著者        Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A
 タイトル      Mutations of the SLX4 gene in Fanconi anemia.
 雑誌        Nat Genet 43:142-6 (2011)
 DOI:10.1038/ng.750
 PMID:23623386 (FANCQ)
 著者        Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillon J, Ramirez MJ, Pujol R, Casado JA, Banos R, Rio P, Knies K, Zuniga S, Benitez J, Bueren JA, Jaspers NG, Scharer OD, de Winter JP, Schindler D, Surralles J
 タイトル      Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
 雑誌        Am J Hum Genet 92:800-6 (2013)
 DOI:10.1016/j.ajhg.2013.04.002
 PMID:26681308 (FANCR)
 著者        Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC
 タイトル      A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
 雑誌        Nat Commun 6:8829 (2015)
 DOI:10.1038/ncomms9829
 PMID:29133208 (FANCS)
 著者        Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL
 タイトル      Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
 雑誌        Eur J Med Genet 61:130-133 (2018)
 DOI:10.1016/j.ejmg.2017.11.003
 PMID:26046368 (FANCT)
 著者        Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M
 タイトル      Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
 雑誌        Am J Hum Genet 96:1001-7 (2015)
 DOI:10.1016/j.ajhg.2015.04.022
 PMID:22232082 (FANCU)
 著者        Shamseldin HE, Elfaki M, Alkuraya FS
 タイトル      Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
 雑誌        J Med Genet 49:184-6 (2012)
 DOI:10.1136/jmedgenet-2011-100585
 PMID:27500492 (FANCV)
 著者        Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socie G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J
 タイトル      Biallelic inactivation of REV7 is associated with Fanconi anemia.
 雑誌        J Clin Invest 126:3580-4 (2016)
 DOI:10.1172/JCI88010
 PMID:28691929 (FANCW)
 著者        Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D
 タイトル      Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
 雑誌        J Clin Invest 127:3013-3027 (2017)
 DOI:10.1172/JCI92069","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238"">H00238</a>",ファンコニ貧血,"Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).",,"(FANCA) FANCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2175"">2175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10888"">K10888</a>]
 (FANCB) FANCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2187"">2187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10889"">K10889</a>]
 (FANCC) FANCC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2176"">2176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10890"">K10890</a>]
 (FANCD1) BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 (FANCD2) FANCD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2177"">2177</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10891"">K10891</a>]
 (FANCE) FANCE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2178"">2178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10892"">K10892</a>]
 (FANCF) FANCF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2188"">2188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10893"">K10893</a>]
 (FANCG) FANCG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2189"">2189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10894"">K10894</a>]
 (FANCI) FANCI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55215"">55215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10895"">K10895</a>]
 (FANCJ) BRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83990"">83990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15362"">K15362</a>]
 (FANCL) FANCL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55120"">55120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10606"">K10606</a>]
 (FANCM) FANCM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57697"">57697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10896"">K10896</a>]
 (FANCN) PALB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79728"">79728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10897"">K10897</a>]
 (FANCO) RAD51C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5889"">5889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10870"">K10870</a>]
 (FANCP) SLX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84464"">84464</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10484"">K10484</a>]
 (FANCQ) ERCC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2072"">2072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10848"">K10848</a>]
 (FANCR) RAD51 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5888"">5888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04482"">K04482</a>]
 (FANCS) BRCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 (FANCT) UBE2T [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29089"">29089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13960"">K13960</a>]
 (FANCU) XRCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7516"">7516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10879"">K10879</a>]
 (FANCV) MAD2L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10459"">10459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13728"">K13728</a>]
 (FANCW) RFWD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55159"">55159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15691"">K15691</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]",,"ICD-11: 3A70.0
 ICD-10: D61.0
 OMIM: <a href=""https://www.omim.org/entry/227650"">227650</a> <a href=""https://www.omim.org/entry/300514"">300514</a> <a href=""https://www.omim.org/entry/227645"">227645</a> <a href=""https://www.omim.org/entry/605724"">605724</a> <a href=""https://www.omim.org/entry/227646"">227646</a> <a href=""https://www.omim.org/entry/600901"">600901</a> <a href=""https://www.omim.org/entry/603467"">603467</a> <a href=""https://www.omim.org/entry/614082"">614082</a> <a href=""https://www.omim.org/entry/609053"">609053</a> <a href=""https://www.omim.org/entry/609054"">609054</a> <a href=""https://www.omim.org/entry/614083"">614083</a> <a href=""https://www.omim.org/entry/610832"">610832</a> <a href=""https://www.omim.org/entry/613390"">613390</a> <a href=""https://www.omim.org/entry/613951"">613951</a> <a href=""https://www.omim.org/entry/615272"">615272</a> <a href=""https://www.omim.org/entry/617244"">617244</a> <a href=""https://www.omim.org/entry/617883"">617883</a> <a href=""https://www.omim.org/entry/616435"">616435</a> <a href=""https://www.omim.org/entry/617247"">617247</a> <a href=""https://www.omim.org/entry/617243"">617243</a> <a href=""https://www.omim.org/entry/617784"">617784</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18995829"">18995829</a>
 著者        Cohn MA, D'Andrea AD
 タイトル      Chromatin recruitment of DNA repair proteins: lessons from the fanconi anemia and double-strand break repair pathways.
 雑誌        Mol Cell 32:306-12 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.molcel.2008.10.009"">10.1016/j.molcel.2008.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19101576"">19101576</a>
 著者        Rego MA, Kolling FW 4th, Howlett NG
 タイトル      The Fanconi anemia protein interaction network: casting a wide net.
 雑誌        Mutat Res 668:27-41 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.mrfmmm.2008.11.018"">10.1016/j.mrfmmm.2008.11.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18047734"">18047734</a> (FANCA <a href=""https://pubmed.ncbi.nlm.nih.gov/-"">-</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FANCN)"">FANCN)</a>
 著者        Jacquemont C, Taniguchi T
 タイトル      The Fanconi anemia pathway and ubiquitin.
 雑誌        BMC Biochem 8 Suppl 1:S10 (2007)
 DOI:<a href=""https://doi.org/10.1186/1471-2091-8-S1-S10"">10.1186/1471-2091-8-S1-S10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20400963"">20400963</a> (FANCO)
 著者        Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG
 タイトル      Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
 雑誌        Nat Genet 42:406-9 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.570"">10.1038/ng.570</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21240275"">21240275</a> (FANCP)
 著者        Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A
 タイトル      Mutations of the SLX4 gene in Fanconi anemia.
 雑誌        Nat Genet 43:142-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.750"">10.1038/ng.750</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23623386"">23623386</a> (FANCQ)
 著者        Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillon J, Ramirez MJ, Pujol R, Casado JA, Banos R, Rio P, Knies K, Zuniga S, Benitez J, Bueren JA, Jaspers NG, Scharer OD, de Winter JP, Schindler D, Surralles J
 タイトル      Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
 雑誌        Am J Hum Genet 92:800-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.002"">10.1016/j.ajhg.2013.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26681308"">26681308</a> (FANCR)
 著者        Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC
 タイトル      A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
 雑誌        Nat Commun 6:8829 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms9829"">10.1038/ncomms9829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29133208"">29133208</a> (FANCS)
 著者        Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL
 タイトル      Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
 雑誌        Eur J Med Genet 61:130-133 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2017.11.003"">10.1016/j.ejmg.2017.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26046368"">26046368</a> (FANCT)
 著者        Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M
 タイトル      Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
 雑誌        Am J Hum Genet 96:1001-7 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.022"">10.1016/j.ajhg.2015.04.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22232082"">22232082</a> (FANCU)
 著者        Shamseldin HE, Elfaki M, Alkuraya FS
 タイトル      Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
 雑誌        J Med Genet 49:184-6 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100585"">10.1136/jmedgenet-2011-100585</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27500492"">27500492</a> (FANCV)
 著者        Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socie G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J
 タイトル      Biallelic inactivation of REV7 is associated with Fanconi anemia.
 雑誌        J Clin Invest 126:3580-4 (2016)
 DOI:<a href=""https://doi.org/10.1172/JCI88010"">10.1172/JCI88010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28691929"">28691929</a> (FANCW)
 著者        Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D
 タイトル      Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
 雑誌        J Clin Invest 127:3013-3027 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI92069"">10.1172/JCI92069</a>"
H00239,"バーター症候群
 下位グループ    バーター症候群を伴う常染色体優性遺伝性低カルシウム血症 (HYPOC1)",,,"Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.",内分泌代謝疾患,,"(BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
 (BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
 (BARTS3) CLCNKB [HSA:1188] [KO:K05018]
 (BARTS4A) BSND [HSA:7809] [KO:K19331]
 (BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
 (BARTS5) MAGED2 [HSA:10916] [KO:K24127]
 (HYPOC1) CASR [HSA:846] [KO:K04612]",,,,,,"ICD-11: GB90.43
 ICD-10: E26.8
 MeSH: D001477
 OMIM: 601678 241200 607364 602522 613090 300971 601198","PMID:16785747
 著者        Kleta R, Bockenhauer D
 タイトル      Bartter syndromes and other salt-losing tubulopathies.
 雑誌        Nephron Physiol 104:p73-80 (2006)
 DOI:10.1159/000094001
 PMID:12920401
 著者        Hebert SC
 タイトル      Bartter syndrome.
 雑誌        Curr Opin Nephrol Hypertens 12:527-32 (2003)
 DOI:10.1097/01.mnh.0000088732.87142.43
 PMID:15056980 (SLC12A1, KCNJ1, CLCNKB, BSND)
 著者        Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D
 タイトル      Bartter's and Gitelman's syndromes: from gene to clinic.
 雑誌        Nephron Physiol 96:p65-78 (2004)
 DOI:10.1159/000076752
 PMID:15044642 (CLCNKA, CLCNKB)
 著者        Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S
 タイトル      Salt wasting and deafness resulting from mutations in two chloride channels.
 雑誌        N Engl J Med 350:1314-9 (2004)
 DOI:10.1056/NEJMoa032843
 PMID:27120771 (MAGED2)
 著者        Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Komhoff M
 タイトル      Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
 雑誌        N Engl J Med 374:1853-63 (2016)
 DOI:10.1056/NEJMoa1507629","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00239"">H00239</a>","バーター症候群
 下位グループ    バーター症候群を伴う常染色体優性遺伝性低カルシウム血症 (HYPOC1)","Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.",,"(BARTS1) SLC12A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6557"">6557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14425"">K14425</a>]
 (BARTS2) KCNJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3758"">3758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04995"">K04995</a>]
 (BARTS3) CLCNKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1188"">1188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05018"">K05018</a>]
 (BARTS4A) BSND [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7809"">7809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19331"">K19331</a>]
 (BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1187"">1187</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1188"">1188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05017"">K05017</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05018"">K05018</a>]
 (BARTS5) MAGED2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10916"">10916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24127"">K24127</a>]
 (HYPOC1) CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]",,,,,,"ICD-11: GB90.43
 ICD-10: E26.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001477"">D001477</a>
 OMIM: <a href=""https://www.omim.org/entry/601678"">601678</a> <a href=""https://www.omim.org/entry/241200"">241200</a> <a href=""https://www.omim.org/entry/607364"">607364</a> <a href=""https://www.omim.org/entry/602522"">602522</a> <a href=""https://www.omim.org/entry/613090"">613090</a> <a href=""https://www.omim.org/entry/300971"">300971</a> <a href=""https://www.omim.org/entry/601198"">601198</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16785747"">16785747</a>
 著者        Kleta R, Bockenhauer D
 タイトル      Bartter syndromes and other salt-losing tubulopathies.
 雑誌        Nephron Physiol 104:p73-80 (2006)
 DOI:<a href=""https://doi.org/10.1159/000094001"">10.1159/000094001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12920401"">12920401</a>
 著者        Hebert SC
 タイトル      Bartter syndrome.
 雑誌        Curr Opin Nephrol Hypertens 12:527-32 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.mnh.0000088732.87142.43"">10.1097/01.mnh.0000088732.87142.43</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15056980"">15056980</a> (SLC12A1, <a href=""https://pubmed.ncbi.nlm.nih.gov/KCNJ1,"">KCNJ1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CLCNKB,"">CLCNKB,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BSND)"">BSND)</a>
 著者        Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D
 タイトル      Bartter's and Gitelman's syndromes: from gene to clinic.
 雑誌        Nephron Physiol 96:p65-78 (2004)
 DOI:<a href=""https://doi.org/10.1159/000076752"">10.1159/000076752</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15044642"">15044642</a> (CLCNKA, <a href=""https://pubmed.ncbi.nlm.nih.gov/CLCNKB)"">CLCNKB)</a>
 著者        Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S
 タイトル      Salt wasting and deafness resulting from mutations in two chloride channels.
 雑誌        N Engl J Med 350:1314-9 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa032843"">10.1056/NEJMoa032843</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27120771"">27120771</a> (MAGED2)
 著者        Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Komhoff M
 タイトル      Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
 雑誌        N Engl J Med 374:1853-63 (2016)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1507629"">10.1056/NEJMoa1507629</a>"
H00240,ギテルマン症候群,,,"Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter.",内分泌代謝疾患,,SLC12A3 [HSA:6559] [KO:K14426],,,,,,"ICD-11: 5C64.41
 ICD-10: E26.8
 MeSH: D053579
 OMIM: 263800","PMID:18667063
 著者        Knoers NV, Levtchenko EN
 タイトル      Gitelman syndrome.
 雑誌        Orphanet J Rare Dis 3:22 (2008)
 DOI:10.1186/1750-1172-3-22
 PMID:17918133
 著者        Wagner CA
 タイトル      Disorders of renal magnesium handling explain renal magnesium transport.
 雑誌        J Nephrol 20:507-10 (2007)
 PMID:17061123
 著者        Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O
 タイトル      Gitelman's syndrome: towards genotype-phenotype correlations?
 雑誌        Pediatr Nephrol 22:326-32 (2007)
 DOI:10.1007/s00467-006-0321-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00240"">H00240</a>",ギテルマン症候群,"Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter.",,"SLC12A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6559"">6559</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14426"">K14426</a>]",,,,,,"ICD-11: 5C64.41
 ICD-10: E26.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053579"">D053579</a>
 OMIM: <a href=""https://www.omim.org/entry/263800"">263800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18667063"">18667063</a>
 著者        Knoers NV, Levtchenko EN
 タイトル      Gitelman syndrome.
 雑誌        Orphanet J Rare Dis 3:22 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-22"">10.1186/1750-1172-3-22</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17918133"">17918133</a>
 著者        Wagner CA
 タイトル      Disorders of renal magnesium handling explain renal magnesium transport.
 雑誌        J Nephrol 20:507-10 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17061123"">17061123</a>
 著者        Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O
 タイトル      Gitelman's syndrome: towards genotype-phenotype correlations?
 雑誌        Pediatr Nephrol 22:326-32 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00467-006-0321-1"">10.1007/s00467-006-0321-1</a>"
H00241,"尿細管性アシドーシス III 型
 上位グループ    尿細管性アシドーシス [DS:H02310]",,,"Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions, with impaired proximal bicarbonate reabsorption coupled with an inability to acidify the urine maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency of carbonic anhydrase II (CAII) caused by a recessive mutation in the CA2 gene on chromosome 8q22.",泌尿器系疾患,,CA2 [HSA:760] [KO:K18245],,High salt intake,,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: D000141
 OMIM: 259730","PMID:11045400
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:10.1007/s004670000407
 PMID:17557941
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:10.1152/physiol.00044.2006
 PMID:12138150 (CA2)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:10.1097/01.ASN.0000023430.92674.E5
 PMID:12566520 (CA2)
 著者        Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE
 タイトル      A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
 雑誌        J Med Genet 40:115-21 (2003)
 DOI:10.1136/jmg.40.2.115","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00241"">H00241</a>","尿細管性アシドーシス III 型
 上位グループ    尿細管性アシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02310"">H02310</a>]","Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions, with impaired proximal bicarbonate reabsorption coupled with an inability to acidify the urine maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency of carbonic anhydrase II (CAII) caused by a recessive mutation in the CA2 gene on chromosome 8q22.",,"CA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:760"">760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18245"">K18245</a>]",,High salt intake,,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000141"">D000141</a>
 OMIM: <a href=""https://www.omim.org/entry/259730"">259730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11045400"">11045400</a>
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004670000407"">10.1007/s004670000407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17557941"">17557941</a>
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:<a href=""https://doi.org/10.1152/physiol.00044.2006"">10.1152/physiol.00044.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12138150"">12138150</a> (CA2)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:<a href=""https://doi.org/10.1097/01.ASN.0000023430.92674.E5"">10.1097/01.ASN.0000023430.92674.E5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12566520"">12566520</a> (CA2)
 著者        Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE
 タイトル      A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
 雑誌        J Med Genet 40:115-21 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.2.115"">10.1136/jmg.40.2.115</a>"
H00242,リドル症候群,,,"Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure.",循環器疾患,,"(LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
 (LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
 (LIDLS3) SCNN1A [HSA:6337] [KO:K04824]",,,,,,"ICD-11: BA04
 ICD-10: I15.2
 OMIM: 177200 618114 618126","PMID:19007435
 著者        Rotin D
 タイトル      Role of the UPS in Liddle syndrome.
 雑誌        BMC Biochem 9 Suppl 1:S5 (2008)
 DOI:10.1186/1471-2091-9-S1-S5
 PMID:15980941
 著者        Lang F, Capasso G, Schwab M, Waldegger S
 タイトル      Renal tubular transport and the genetic basis of hypertensive disease.
 雑誌        Clin Exp Nephrol 9:91-9 (2005)
 DOI:10.1007/s10157-005-0355-x
 PMID:11780687
 著者        Warnock DG
 タイトル      Liddle syndrome: genetics and mechanisms of Na+ channel defects.
 雑誌        Am J Med Sci 322:302-7 (2001)
 DOI:10.1097/00000441-200112000-00002
 PMID:28710092
 著者        Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ
 タイトル      A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome.
 雑誌        J Am Soc Nephrol 28:3291-3299 (2017)
 DOI:10.1681/ASN.2016111163","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00242"">H00242</a>",リドル症候群,"Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure.",,"(LIDLS1) SCNN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6338"">6338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04825"">K04825</a>]
 (LIDLS2) SCNN1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6340"">6340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04827"">K04827</a>]
 (LIDLS3) SCNN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6337"">6337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04824"">K04824</a>]",,,,,,"ICD-11: BA04
 ICD-10: I15.2
 OMIM: <a href=""https://www.omim.org/entry/177200"">177200</a> <a href=""https://www.omim.org/entry/618114"">618114</a> <a href=""https://www.omim.org/entry/618126"">618126</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19007435"">19007435</a>
 著者        Rotin D
 タイトル      Role of the UPS in Liddle syndrome.
 雑誌        BMC Biochem 9 Suppl 1:S5 (2008)
 DOI:<a href=""https://doi.org/10.1186/1471-2091-9-S1-S5"">10.1186/1471-2091-9-S1-S5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15980941"">15980941</a>
 著者        Lang F, Capasso G, Schwab M, Waldegger S
 タイトル      Renal tubular transport and the genetic basis of hypertensive disease.
 雑誌        Clin Exp Nephrol 9:91-9 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10157-005-0355-x"">10.1007/s10157-005-0355-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11780687"">11780687</a>
 著者        Warnock DG
 タイトル      Liddle syndrome: genetics and mechanisms of Na+ channel defects.
 雑誌        Am J Med Sci 322:302-7 (2001)
 DOI:<a href=""https://doi.org/10.1097/00000441-200112000-00002"">10.1097/00000441-200112000-00002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28710092"">28710092</a>
 著者        Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ
 タイトル      A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome.
 雑誌        J Am Soc Nephrol 28:3291-3299 (2017)
 DOI:<a href=""https://doi.org/10.1681/ASN.2016111163"">10.1681/ASN.2016111163</a>"
H00243,"尿細管性アシドーシス IV 型
 下位グループ    偽性低アルドステロン症 I 型 (PHA1)
 偽性低アルドステロン症 II 型 (PHA2)
 上位グループ    尿細管性アシドーシス [DS:H02310]",,,"Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling. Primary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia, and metabolic acidosis in the presence of markedly elevated plasma renin activity and aldosterone concentration. In the autosomal dominant form, aldosterone resistance is due to heterozygous mutations in the mineralocorticoid receptor gene. In the autosomal recessive form, aldosterone resistance is caused by loss-of-function homozygous mutations in the genes encoding one of the three constitutive subunits (alpha, beta, and gamma) of the epithelial Na+ channel (SCNN1A, SCNN1B, and SCNN1G). Other inherited cause of type 4 RTA includes hyperkalaemia associated with hypertension and low or normal levels of plasma aldosterone. This syndrome is called pseudohypoaldosteronism type 2 (PHA2), or Gordon's syndrome, which results in a renal aldosterone resistance. Mutations in the genes encoding WNK1 and WNK4 kinases (WNK1 and WNK4), which regulate ion-transporters on renal tubules, were identified in patients with PHA2. Acquired hyperkalemic RTA is observed in the context of mineralocorticoid deficiency, systemic lupus erythematosus, and AIDS nephropathy. It is also often seen in a number of tubulointerstitial renal diseases. Finally, a great number of drugs may induce hyperkalemic RTA.",泌尿器系疾患,,"(PHA1A) NR3C2 [HSA:4306] [KO:K08555]
 (PHA1B) SCNN1A [HSA:6337] [KO:K04824]
 (PHA1B) SCNN1B [HSA:6338] [KO:K04825]
 (PHA1B) SCNN1G [HSA:6340] [KO:K04827]
 (PHA2B) WNK4 [HSA:65266] [KO:K08867]
 (PHA2C) WNK1 [HSA:65125] [KO:K08867]
 (PHA2D) KLHL3 [HSA:26249] [KO:K10443]
 (PHA2E) CUL3 [HSA:8452] [KO:K03869]",,"Cyclo-oxygenase inhibitors
 Converting enzyme inhibitors
 Heparin [CPD:C00374]
 Potassium-retaining diuretics
 Trimethoprim [CPD:C01965]
 Pentamidine [CPD:C07420]
 Cyclosporin A [CPD:C05086]
 Insulin antagonists
 Beta-adrenergic antagonists
 Alpha-adrenergic agonists
 Digitalis
 Succinylcholine",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: D011546
 OMIM: 264350 177735 145260 614491 614492 614495 614496","PMID:19721811
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:10.2174/138920209787581262
 PMID:11045400
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:10.1007/s004670000407
 PMID:12138150 (NR3C2, SCNN1A, SCNN1B, SCNN1G)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:10.1097/01.ASN.0000023430.92674.E5
 PMID:11498583 (WNK1,WNK4)
 著者        Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP
 タイトル      Human hypertension caused by mutations in WNK kinases.
 雑誌        Science 293:1107-12 (2001)
 DOI:10.1126/science.1062844
 PMID:22266938 (KLHL3, CUL3)
 著者        Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Valimaki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
 タイトル      Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
 雑誌        Nature 482:98-102 (2012)
 DOI:10.1038/nature10814","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00243"">H00243</a>","尿細管性アシドーシス IV 型
 下位グループ    偽性低アルドステロン症 I 型 (PHA1)
 偽性低アルドステロン症 II 型 (PHA2)
 上位グループ    尿細管性アシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02310"">H02310</a>]","Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling. Primary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia, and metabolic acidosis in the presence of markedly elevated plasma renin activity and aldosterone concentration. In the autosomal dominant form, aldosterone resistance is due to heterozygous mutations in the mineralocorticoid receptor gene. In the autosomal recessive form, aldosterone resistance is caused by loss-of-function homozygous mutations in the genes encoding one of the three constitutive subunits (alpha, beta, and gamma) of the epithelial Na+ channel (SCNN1A, SCNN1B, and SCNN1G). Other inherited cause of type 4 RTA includes hyperkalaemia associated with hypertension and low or normal levels of plasma aldosterone. This syndrome is called pseudohypoaldosteronism type 2 (PHA2), or Gordon's syndrome, which results in a renal aldosterone resistance. Mutations in the genes encoding WNK1 and WNK4 kinases (WNK1 and WNK4), which regulate ion-transporters on renal tubules, were identified in patients with PHA2. Acquired hyperkalemic RTA is observed in the context of mineralocorticoid deficiency, systemic lupus erythematosus, and AIDS nephropathy. It is also often seen in a number of tubulointerstitial renal diseases. Finally, a great number of drugs may induce hyperkalemic RTA.",,"(PHA1A) NR3C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4306"">4306</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08555"">K08555</a>]
 (PHA1B) SCNN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6337"">6337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04824"">K04824</a>]
 (PHA1B) SCNN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6338"">6338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04825"">K04825</a>]
 (PHA1B) SCNN1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6340"">6340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04827"">K04827</a>]
 (PHA2B) WNK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65266"">65266</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08867"">K08867</a>]
 (PHA2C) WNK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65125"">65125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08867"">K08867</a>]
 (PHA2D) KLHL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26249"">26249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10443"">K10443</a>]
 (PHA2E) CUL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8452"">8452</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03869"">K03869</a>]",,"Cyclo-oxygenase inhibitors
 Converting enzyme inhibitors
 Heparin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00374"">C00374</a>]
 Potassium-retaining diuretics
 Trimethoprim [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01965"">C01965</a>]
 Pentamidine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07420"">C07420</a>]
 Cyclosporin A [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C05086"">C05086</a>]
 Insulin antagonists
 Beta-adrenergic antagonists
 Alpha-adrenergic agonists
 Digitalis
 Succinylcholine",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011546"">D011546</a>
 OMIM: <a href=""https://www.omim.org/entry/264350"">264350</a> <a href=""https://www.omim.org/entry/177735"">177735</a> <a href=""https://www.omim.org/entry/145260"">145260</a> <a href=""https://www.omim.org/entry/614491"">614491</a> <a href=""https://www.omim.org/entry/614492"">614492</a> <a href=""https://www.omim.org/entry/614495"">614495</a> <a href=""https://www.omim.org/entry/614496"">614496</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19721811"">19721811</a>
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:<a href=""https://doi.org/10.2174/138920209787581262"">10.2174/138920209787581262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11045400"">11045400</a>
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004670000407"">10.1007/s004670000407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12138150"">12138150</a> (NR3C2, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCNN1A,"">SCNN1A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCNN1B,"">SCNN1B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SCNN1G)"">SCNN1G)</a>
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:<a href=""https://doi.org/10.1097/01.ASN.0000023430.92674.E5"">10.1097/01.ASN.0000023430.92674.E5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11498583"">11498583</a> (WNK1,WNK4)
 著者        Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP
 タイトル      Human hypertension caused by mutations in WNK kinases.
 雑誌        Science 293:1107-12 (2001)
 DOI:<a href=""https://doi.org/10.1126/science.1062844"">10.1126/science.1062844</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22266938"">22266938</a> (KLHL3, <a href=""https://pubmed.ncbi.nlm.nih.gov/CUL3)"">CUL3)</a>
 著者        Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Valimaki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
 タイトル      Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
 雑誌        Nature 482:98-102 (2012)
 DOI:<a href=""https://doi.org/10.1038/nature10814"">10.1038/nature10814</a>"
H00244,偽性副甲状腺機能低下症,,,"Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.",内分泌代謝疾患,nt06318  CaSR-PTH signaling,"(PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632]
 (PHP1B) STX16 [HSA:8675] [KO:K08489]
 (PHP1B) GNAS-AS1 [HSA:149775]",,,,,,"ICD-11: 5A50.1
 ICD-10: E20.1
 MeSH: D011547
 OMIM: 103580 603233 612462 612463","PMID:17595244
 著者        Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A
 タイトル      Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
 雑誌        J Clin Endocrinol Metab 92:3738-42 (2007)
 DOI:10.1210/jc.2007-0869
 PMID:16789629
 著者        Juppner H, Bastepe M
 タイトル      Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
 雑誌        J Pediatr Endocrinol Metab 19 Suppl 2:641-6 (2006)
 DOI:10.1515/jpem.2006.19.s2.641
 PMID:15711092
 著者        Bastepe M, Juppner H
 タイトル      GNAS locus and pseudohypoparathyroidism.
 雑誌        Horm Res 63:65-74 (2005)
 DOI:10.1159/000083895
 PMID:2109828 (GNAS, PHP1A)
 著者        Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA
 タイトル      Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
 雑誌        N Engl J Med 322:1412-9 (1990)
 DOI:10.1056/NEJM199005173222002
 PMID:11029463 (GNAS, PHP1B)
 著者        Wu WI, Schwindinger WF, Aparicio LF, Levine MA
 タイトル      Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type  Ib.
 雑誌        J Biol Chem 276:165-71 (2001)
 DOI:10.1074/jbc.M006032200
 PMID:11788646 (GNAS, PHP1C)
 著者        Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML
 タイトル      GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
 雑誌        J Clin Endocrinol Metab 87:189-97 (2002)
 DOI:10.1210/jcem.87.1.8133
 PMID:14561710 (STX16)
 著者        Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H
 タイトル      Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
 雑誌        J Clin Invest 112:1255-63 (2003)
 DOI:10.1172/JCI19159
 PMID:15592469 (GNAS-AS1)
 著者        Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H
 タイトル      Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
 雑誌        Nat Genet 37:25-7 (2005)
 DOI:10.1038/ng1487","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00244"">H00244</a>",偽性副甲状腺機能低下症,"Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.","<a href=""https://www.kegg.jp/network/nt06318"">nt06318</a>  CaSR-PTH signaling","(PHP1A/1B/1C) GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]
 (PHP1B) STX16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8675"">8675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08489"">K08489</a>]
 (PHP1B) GNAS-AS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149775"">149775</a>]",,,,,,"ICD-11: 5A50.1
 ICD-10: E20.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011547"">D011547</a>
 OMIM: <a href=""https://www.omim.org/entry/103580"">103580</a> <a href=""https://www.omim.org/entry/603233"">603233</a> <a href=""https://www.omim.org/entry/612462"">612462</a> <a href=""https://www.omim.org/entry/612463"">612463</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17595244"">17595244</a>
 著者        Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A
 タイトル      Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
 雑誌        J Clin Endocrinol Metab 92:3738-42 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-0869"">10.1210/jc.2007-0869</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16789629"">16789629</a>
 著者        Juppner H, Bastepe M
 タイトル      Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
 雑誌        J Pediatr Endocrinol Metab 19 Suppl 2:641-6 (2006)
 DOI:<a href=""https://doi.org/10.1515/jpem.2006.19.s2.641"">10.1515/jpem.2006.19.s2.641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15711092"">15711092</a>
 著者        Bastepe M, Juppner H
 タイトル      GNAS locus and pseudohypoparathyroidism.
 雑誌        Horm Res 63:65-74 (2005)
 DOI:<a href=""https://doi.org/10.1159/000083895"">10.1159/000083895</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2109828"">2109828</a> (GNAS, <a href=""https://pubmed.ncbi.nlm.nih.gov/PHP1A)"">PHP1A)</a>
 著者        Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA
 タイトル      Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
 雑誌        N Engl J Med 322:1412-9 (1990)
 DOI:<a href=""https://doi.org/10.1056/NEJM199005173222002"">10.1056/NEJM199005173222002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11029463"">11029463</a> (GNAS, <a href=""https://pubmed.ncbi.nlm.nih.gov/PHP1B)"">PHP1B)</a>
 著者        Wu WI, Schwindinger WF, Aparicio LF, Levine MA
 タイトル      Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type  Ib.
 雑誌        J Biol Chem 276:165-71 (2001)
 DOI:<a href=""https://doi.org/10.1074/jbc.M006032200"">10.1074/jbc.M006032200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11788646"">11788646</a> (GNAS, <a href=""https://pubmed.ncbi.nlm.nih.gov/PHP1C)"">PHP1C)</a>
 著者        Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML
 タイトル      GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
 雑誌        J Clin Endocrinol Metab 87:189-97 (2002)
 DOI:<a href=""https://doi.org/10.1210/jcem.87.1.8133"">10.1210/jcem.87.1.8133</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14561710"">14561710</a> (STX16)
 著者        Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H
 タイトル      Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
 雑誌        J Clin Invest 112:1255-63 (2003)
 DOI:<a href=""https://doi.org/10.1172/JCI19159"">10.1172/JCI19159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15592469"">15592469</a> (GNAS-AS1)
 著者        Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H
 タイトル      Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
 雑誌        Nat Genet 37:25-7 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1487"">10.1038/ng1487</a>"
H00245,"カルシウム感知受容体 (CASR) 異常症
 下位グループ    家族性低カルシウム尿性高カルシウム血症 [DS:H02026]
 家族性高カルシウム尿性低カルシウム血症
 新生児副甲状腺機能亢進症 [DS:H02030]
 常染色体優性遺伝性低カルシウム血症",,,"The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and characterized by benign symptoms with mild hypercalcaemia, whereas NSHPT is caused by homozygous mutations and characterized by more severe ones with severe hypercalcaemia and hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria.",内分泌系疾患; 泌尿器系疾患,,CASR [HSA:846] [KO:K04612],,,,,,"ICD-11: 5C64.5
 ICD-10: E83.5
 MeSH: C537145 C563375 C562783
 OMIM: 145980 239200 146200 601198","PMID:18328986
 著者        Egbuna OI, Brown EM
 タイトル      Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.
 雑誌        Best Pract Res Clin Rheumatol 22:129-48 (2008)
 DOI:10.1016/j.berh.2007.11.006
 PMID:11706743
 著者        Heath DA
 タイトル      Familial hypocalciuric hypercalcemia.
 雑誌        Rev Endocr Metab Disord 1:291-6 (2000)
 DOI:10.1023/A:1026566418011
 PMID:11033758
 著者        Brown EM
 タイトル      Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium.
 雑誌        Endocrinol Metab Clin North Am 29:503-22 (2000)
 DOI:10.1016/S0889-8529(05)70148-1
 PMID:11013439
 著者        Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE
 タイトル      Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
 雑誌        Hum Mutat 16:281-96 (2000)
 DOI:10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00245"">H00245</a>","カルシウム感知受容体 (CASR) 異常症
 下位グループ    家族性低カルシウム尿性高カルシウム血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02026"">H02026</a>]
 家族性高カルシウム尿性低カルシウム血症
 新生児副甲状腺機能亢進症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02030"">H02030</a>]
 常染色体優性遺伝性低カルシウム血症","The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and characterized by benign symptoms with mild hypercalcaemia, whereas NSHPT is caused by homozygous mutations and characterized by more severe ones with severe hypercalcaemia and hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria.",,"CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]",,,,,,"ICD-11: 5C64.5
 ICD-10: E83.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537145"">C537145</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563375"">C563375</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562783"">C562783</a>
 OMIM: <a href=""https://www.omim.org/entry/145980"">145980</a> <a href=""https://www.omim.org/entry/239200"">239200</a> <a href=""https://www.omim.org/entry/146200"">146200</a> <a href=""https://www.omim.org/entry/601198"">601198</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328986"">18328986</a>
 著者        Egbuna OI, Brown EM
 タイトル      Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.
 雑誌        Best Pract Res Clin Rheumatol 22:129-48 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.006"">10.1016/j.berh.2007.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11706743"">11706743</a>
 著者        Heath DA
 タイトル      Familial hypocalciuric hypercalcemia.
 雑誌        Rev Endocr Metab Disord 1:291-6 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1026566418011"">1026566418011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11033758"">11033758</a>
 著者        Brown EM
 タイトル      Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium.
 雑誌        Endocrinol Metab Clin North Am 29:503-22 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0889-8529(05)70148-1"">10.1016/S0889-8529(05)70148-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11013439"">11013439</a>
 著者        Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE
 タイトル      Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
 雑誌        Hum Mutat 16:281-96 (2000)
 DOI:<a href=""https://doi.org/10.1002/1098-1004(200010)16:"">10.1002/1098-1004(200010)16:</a><a href=""https://doi.org/4<281:"">4<281:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-A"">AID-HUMU1>3.0.CO;2-A</a>"
H00246,副甲状腺機能亢進症,,,Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.,内分泌代謝疾患,nt06318  CaSR-PTH signaling,"CDC73 [HSA:79577] [KO:K15175]
 MEN1 [HSA:4221] [KO:K14970]
 CASR [HSA:846] [KO:K04612]
 GCM2 [HSA:9247] [KO:K21598]",,,,シナカルセト塩酸塩 [DR:D03505],,"ICD-11: 5A51.0
 ICD-10: E21.0
 MeSH: D049950
 OMIM: 145000 145001 239200 617343","PMID:19092296
 著者        Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C
 タイトル      Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment.
 雑誌        J Endocrinol Invest 31:900-4 (2008)
 DOI:10.1007/BF03346439
 PMID:18684024
 著者        DeLellis RA, Mazzaglia P, Mangray S
 タイトル      Primary hyperparathyroidism: a current perspective.
 雑誌        Arch Pathol Lab Med 132:1251-62 (2008)
 DOI:10.1043/1543-2165(2008)132[1251:PHACP]2.0.CO;2
 PMID:16001331
 著者        Wang PF, Tan MH, Zhang C, Morreau H, Teh BT
 タイトル      HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome.
 雑誌        Horm Metab Res 37:380-3 (2005)
 DOI:10.1055/s-2005-870150
 PMID:27745835
 著者        Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
 タイトル      GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
 雑誌        Am J Hum Genet 99:1034-1044 (2016)
 DOI:10.1016/j.ajhg.2016.08.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00246"">H00246</a>",副甲状腺機能亢進症,Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.,"<a href=""https://www.kegg.jp/network/nt06318"">nt06318</a>  CaSR-PTH signaling","CDC73 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79577"">79577</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15175"">K15175</a>]
 MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]
 GCM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9247"">9247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21598"">K21598</a>]",,,,"シナカルセト塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03505"">D03505</a>]",,"ICD-11: 5A51.0
 ICD-10: E21.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049950"">D049950</a>
 OMIM: <a href=""https://www.omim.org/entry/145000"">145000</a> <a href=""https://www.omim.org/entry/145001"">145001</a> <a href=""https://www.omim.org/entry/239200"">239200</a> <a href=""https://www.omim.org/entry/617343"">617343</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19092296"">19092296</a>
 著者        Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C
 タイトル      Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment.
 雑誌        J Endocrinol Invest 31:900-4 (2008)
 DOI:<a href=""https://doi.org/10.1007/BF03346439"">10.1007/BF03346439</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18684024"">18684024</a>
 著者        DeLellis RA, Mazzaglia P, Mangray S
 タイトル      Primary hyperparathyroidism: a current perspective.
 雑誌        Arch Pathol Lab Med 132:1251-62 (2008)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2008)132[1251:"">10.1043/1543-2165(2008)132[1251:</a><a href=""https://doi.org/PHACP]2.0.CO;2"">PHACP]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16001331"">16001331</a>
 著者        Wang PF, Tan MH, Zhang C, Morreau H, Teh BT
 タイトル      HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome.
 雑誌        Horm Metab Res 37:380-3 (2005)
 DOI:<a href=""https://doi.org/10.1055/s-2005-870150"">10.1055/s-2005-870150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27745835"">27745835</a>
 著者        Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
 タイトル      GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
 雑誌        Am J Hum Genet 99:1034-1044 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.018"">10.1016/j.ajhg.2016.08.018</a>"
H00247,"多発性内分泌腫瘍症候群;
 ウェルマー症候群;
 シップル症候群",,,"Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.",がん,,"(MEN1) MEN1 [HSA:4221] [KO:K14970]
 (MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
 (MEN4) CDKN1B [HSA:1027] [KO:K06624]",,,,,,"ICD-11: 2F7A.0
 ICD-10: D44.8
 MeSH: D009377
 OMIM: 131100 162300 171400 610755","PMID:18328987
 著者        Falchetti A, Marini F, Luzi E, Tonelli F, Brandi ML
 タイトル      Multiple endocrine neoplasms.
 雑誌        Best Pract Res Clin Rheumatol 22:149-63 (2008)
 DOI:10.1016/j.berh.2007.11.010
 PMID:17030811
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:10.1073/pnas.0603877103
 PMID:17037976
 著者        Lakhani VT, You YN, Wells SA
 タイトル      The multiple endocrine neoplasia syndromes.
 雑誌        Annu Rev Med 58:253-65 (2007)
 DOI:10.1146/annurev.med.58.100305.115303
 PMID:17024155
 著者        Dreijerink KM, Hoppener JW, Timmers HM, Lips CJ
 タイトル      Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation.
 雑誌        Nat Clin Pract Endocrinol Metab 2:562-70 (2006)
 DOI:10.1038/ncpendmet0292
 PMID:15864278
 著者        Marx SJ
 タイトル      Molecular genetics of multiple endocrine neoplasia types 1 and 2.
 雑誌        Nat Rev Cancer 5:367-75 (2005)
 DOI:10.1038/nrc1610
 PMID:15608505
 著者        Carling T
 タイトル      Multiple endocrine neoplasia syndrome: genetic basis for clinical management.
 雑誌        Curr Opin Oncol 17:7-12 (2005)
 DOI:10.1097/01.cco.0000148567.29850.31
 PMID:23933118
 著者        Thakker RV
 タイトル      Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).
 雑誌        Mol Cell Endocrinol 386:2-15 (2014)
 DOI:10.1016/j.mce.2013.08.002
 PMID:24931355
 著者        Walls GV
 タイトル      Multiple endocrine neoplasia (MEN) syndromes.
 雑誌        Semin Pediatr Surg 23:96-101 (2014)
 DOI:10.1053/j.sempedsurg.2014.03.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00247"">H00247</a>","多発性内分泌腫瘍症候群;
 ウェルマー症候群;
 シップル症候群","Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01522)."">H01522).</a> MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.",,"(MEN1) MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 (MEN2A MEN2B) RET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a>]
 (MEN4) CDKN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1027"">1027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06624"">K06624</a>]",,,,,,"ICD-11: 2F7A.0
 ICD-10: D44.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009377"">D009377</a>
 OMIM: <a href=""https://www.omim.org/entry/131100"">131100</a> <a href=""https://www.omim.org/entry/162300"">162300</a> <a href=""https://www.omim.org/entry/171400"">171400</a> <a href=""https://www.omim.org/entry/610755"">610755</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328987"">18328987</a>
 著者        Falchetti A, Marini F, Luzi E, Tonelli F, Brandi ML
 タイトル      Multiple endocrine neoplasms.
 雑誌        Best Pract Res Clin Rheumatol 22:149-63 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.010"">10.1016/j.berh.2007.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17030811"">17030811</a>
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603877103"">10.1073/pnas.0603877103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17037976"">17037976</a>
 著者        Lakhani VT, You YN, Wells SA
 タイトル      The multiple endocrine neoplasia syndromes.
 雑誌        Annu Rev Med 58:253-65 (2007)
 DOI:<a href=""https://doi.org/10.1146/annurev.med.58.100305.115303"">10.1146/annurev.med.58.100305.115303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17024155"">17024155</a>
 著者        Dreijerink KM, Hoppener JW, Timmers HM, Lips CJ
 タイトル      Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation.
 雑誌        Nat Clin Pract Endocrinol Metab 2:562-70 (2006)
 DOI:<a href=""https://doi.org/10.1038/ncpendmet0292"">10.1038/ncpendmet0292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15864278"">15864278</a>
 著者        Marx SJ
 タイトル      Molecular genetics of multiple endocrine neoplasia types 1 and 2.
 雑誌        Nat Rev Cancer 5:367-75 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrc1610"">10.1038/nrc1610</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15608505"">15608505</a>
 著者        Carling T
 タイトル      Multiple endocrine neoplasia syndrome: genetic basis for clinical management.
 雑誌        Curr Opin Oncol 17:7-12 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.cco.0000148567.29850.31"">10.1097/01.cco.0000148567.29850.31</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23933118"">23933118</a>
 著者        Thakker RV
 タイトル      Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).
 雑誌        Mol Cell Endocrinol 386:2-15 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2013.08.002"">10.1016/j.mce.2013.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24931355"">24931355</a>
 著者        Walls GV
 タイトル      Multiple endocrine neoplasia (MEN) syndromes.
 雑誌        Semin Pediatr Surg 23:96-101 (2014)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2014.03.008"">10.1053/j.sempedsurg.2014.03.008</a>"
H00249,"甲状腺ホルモン不応症候群
 下位グループ    全身型甲状腺ホルモン不応症
 レフェトフ症候群
 下垂体型甲状腺ホルモン不応症",,,"Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.",内分泌系疾患,nt06322  TRH-TSH-TH signaling,THRB [HSA:7068] [KO:K08362],,,,,,"ICD-11: 5A00.01
 ICD-10: E07.8
 MeSH: D018382 C564154
 OMIM: 188570 274300 145650","PMID:17132274
 著者        Olateju TO, Vanderpump MP
 タイトル      Thyroid hormone resistance.
 雑誌        Ann Clin Biochem 43:431-40 (2006)
 DOI:10.1258/000456306778904678
 PMID:15860414
 著者        Cheng SY
 タイトル      Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
 雑誌        Trends Endocrinol Metab 16:176-82 (2005)
 DOI:10.1016/j.tem.2005.03.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00249"">H00249</a>","甲状腺ホルモン不応症候群
 下位グループ    全身型甲状腺ホルモン不応症
 レフェトフ症候群
 下垂体型甲状腺ホルモン不応症","Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.","<a href=""https://www.kegg.jp/network/nt06322"">nt06322</a>  TRH-TSH-TH signaling","THRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7068"">7068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08362"">K08362</a>]",,,,,,"ICD-11: 5A00.01
 ICD-10: E07.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018382"">D018382</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564154"">C564154</a>
 OMIM: <a href=""https://www.omim.org/entry/188570"">188570</a> <a href=""https://www.omim.org/entry/274300"">274300</a> <a href=""https://www.omim.org/entry/145650"">145650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17132274"">17132274</a>
 著者        Olateju TO, Vanderpump MP
 タイトル      Thyroid hormone resistance.
 雑誌        Ann Clin Biochem 43:431-40 (2006)
 DOI:<a href=""https://doi.org/10.1258/000456306778904678"">10.1258/000456306778904678</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15860414"">15860414</a>
 著者        Cheng SY
 タイトル      Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
 雑誌        Trends Endocrinol Metab 16:176-82 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.tem.2005.03.008"">10.1016/j.tem.2005.03.008</a>"
H00250,先天性甲状腺機能低下症 (甲状腺腫を伴わない),,,Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism.,内分泌系疾患,nt06322  TRH-TSH-TH signaling,"(CHNG1) TSHR [HSA:7253] [KO:K04249]
 (CHNG2) PAX8 [HSA:7849] [KO:K09293]
 (CHNG4) TSHB [HSA:7252] [KO:K05251]
 (CHNG5) NKX2-5 [HSA:1482] [KO:K09345]
 (CHNG6) THRA [HSA:7067] [KO:K05547]
 (CHNG7) TRHR [HSA:7201] [KO:K04282]
 (CHNG8) TBL1X [HSA:6907] [KO:K04508]
 (CHNG9) IRS4 [HSA:8471] [KO:K17446]",,,,,,"ICD-11: 5A00.01
 ICD-10: E03.1
 MeSH: D003409
 OMIM: 275200 218700 275100 225250 614450 618573 301033 301035","PMID:18174723
 著者        Gruters A, Krude H
 タイトル      Update on the management of congenital hypothyroidism.
 雑誌        Horm Res 68 Suppl 5:107-11 (2007)
 DOI:10.1159/000110591
 PMID:16740880
 著者        Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK
 タイトル      Update of newborn screening and therapy for congenital hypothyroidism.
 雑誌        Pediatrics 117:2290-303 (2006)
 DOI:10.1542/peds.2006-0915
 PMID:15863666
 著者        Park SM, Chatterjee VK
 タイトル      Genetics of congenital hypothyroidism.
 雑誌        J Med Genet 42:379-89 (2005)
 DOI:10.1136/jmg.2004.024158
 PMID:15554885
 著者        Gruters A, Krude H, Biebermann H
 タイトル      Molecular genetic defects in congenital hypothyroidism.
 雑誌        Eur J Endocrinol 151 Suppl 3:U39-44 (2004)
 DOI:10.1530/eje.0.151U039
 PMID:25670821
 著者        Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH
 タイトル      Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA).
 雑誌        J Med Genet 52:312-6 (2015)
 DOI:10.1136/jmedgenet-2014-102936
 PMID:30324792
 著者        Peters C, van Trotsenburg ASP, Schoenmakers N
 タイトル      DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
 雑誌        Eur J Endocrinol 179:R297-R317 (2018)
 DOI:10.1530/EJE-18-0383
 PMID:30591955
 著者        Garcia M, Barreda-Bonis AC, Jimenez P, Rabanal I, Ortiz A, Vallespin E, Del Pozo A, Martinez-San Millan J, Gonzalez-Casado I, Moreno JC
 タイトル      Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.
 雑誌        J Endocr Soc 3:119-128 (2019)
 DOI:10.1210/js.2018-00144
 PMID:30061370
 著者        Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E
 タイトル      Mutations in IRS4 are associated with central hypothyroidism.
 雑誌        J Med Genet 55:693-700 (2018)
 DOI:10.1136/jmedgenet-2017-105113","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00250"">H00250</a>",先天性甲状腺機能低下症 (甲状腺腫を伴わない),Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism.,"<a href=""https://www.kegg.jp/network/nt06322"">nt06322</a>  TRH-TSH-TH signaling","(CHNG1) TSHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7253"">7253</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04249"">K04249</a>]
 (CHNG2) PAX8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7849"">7849</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09293"">K09293</a>]
 (CHNG4) TSHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7252"">7252</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05251"">K05251</a>]
 (CHNG5) NKX2-5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1482"">1482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09345"">K09345</a>]
 (CHNG6) THRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7067"">7067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05547"">K05547</a>]
 (CHNG7) TRHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7201"">7201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04282"">K04282</a>]
 (CHNG8) TBL1X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6907"">6907</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04508"">K04508</a>]
 (CHNG9) IRS4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8471"">8471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17446"">K17446</a>]",,,,,,"ICD-11: 5A00.01
 ICD-10: E03.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003409"">D003409</a>
 OMIM: <a href=""https://www.omim.org/entry/275200"">275200</a> <a href=""https://www.omim.org/entry/218700"">218700</a> <a href=""https://www.omim.org/entry/275100"">275100</a> <a href=""https://www.omim.org/entry/225250"">225250</a> <a href=""https://www.omim.org/entry/614450"">614450</a> <a href=""https://www.omim.org/entry/618573"">618573</a> <a href=""https://www.omim.org/entry/301033"">301033</a> <a href=""https://www.omim.org/entry/301035"">301035</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18174723"">18174723</a>
 著者        Gruters A, Krude H
 タイトル      Update on the management of congenital hypothyroidism.
 雑誌        Horm Res 68 Suppl 5:107-11 (2007)
 DOI:<a href=""https://doi.org/10.1159/000110591"">10.1159/000110591</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16740880"">16740880</a>
 著者        Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK
 タイトル      Update of newborn screening and therapy for congenital hypothyroidism.
 雑誌        Pediatrics 117:2290-303 (2006)
 DOI:<a href=""https://doi.org/10.1542/peds.2006-0915"">10.1542/peds.2006-0915</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15863666"">15863666</a>
 著者        Park SM, Chatterjee VK
 タイトル      Genetics of congenital hypothyroidism.
 雑誌        J Med Genet 42:379-89 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.024158"">10.1136/jmg.2004.024158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15554885"">15554885</a>
 著者        Gruters A, Krude H, Biebermann H
 タイトル      Molecular genetic defects in congenital hypothyroidism.
 雑誌        Eur J Endocrinol 151 Suppl 3:U39-44 (2004)
 DOI:<a href=""https://doi.org/10.1530/eje.0.151U039"">10.1530/eje.0.151U039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25670821"">25670821</a>
 著者        Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH
 タイトル      Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA).
 雑誌        J Med Genet 52:312-6 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102936"">10.1136/jmedgenet-2014-102936</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30324792"">30324792</a>
 著者        Peters C, van Trotsenburg ASP, Schoenmakers N
 タイトル      DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
 雑誌        Eur J Endocrinol 179:R297-R317 (2018)
 DOI:<a href=""https://doi.org/10.1530/EJE-18-0383"">10.1530/EJE-18-0383</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30591955"">30591955</a>
 著者        Garcia M, Barreda-Bonis AC, Jimenez P, Rabanal I, Ortiz A, Vallespin E, Del Pozo A, Martinez-San Millan J, Gonzalez-Casado I, Moreno JC
 タイトル      Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.
 雑誌        J Endocr Soc 3:119-128 (2019)
 DOI:<a href=""https://doi.org/10.1210/js.2018-00144"">10.1210/js.2018-00144</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30061370"">30061370</a>
 著者        Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E
 タイトル      Mutations in IRS4 are associated with central hypothyroidism.
 雑誌        J Med Genet 55:693-700 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-105113"">10.1136/jmedgenet-2017-105113</a>"
H00251,"甲状腺内分泌不全症;
 内分泌不全性甲状腺腫",,,Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.,内分泌系疾患,nt06322  TRH-TSH-TH signaling,"(Type 1) SLC5A5 [HSA:6528] [KO:K14385]
 (Type 2A) TPO [HSA:7173] [KO:K00431]
 (Type 2B) SLC26A4 [HSA:5172] [KO:K14702]
 (Type 2B) FOXI1 [HSA:2299] [KO:K09401]
 (Type 4) IYD [HSA:389434] [KO:K17231]
 (Type 5) DUOXA2 [HSA:405753] [KO:K17232]
 TG [HSA:7038] [KO:K10809]
 (Type 6) DUOX2 [HSA:50506] [KO:K13411]",,,,,,"ICD-11: 5A00.00
 ICD-10: E07.1
 MeSH: C564766 C563206 C536648 C562769 C562770 C562771 C564608
 OMIM: 274400 274500 274600 274800 274900 607200 188450","PMID:17551472
 著者        Topaloglu AK
 タイトル      Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.
 雑誌        Pediatr Endocrinol Rev 3  Suppl 3:498-502 (2006)
 PMID:17684392
 著者        Moreno JC, Visser TJ
 タイトル      New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
 雑誌        Endocr Dev 10:99-117 (2007)
 DOI:10.1159/0000106822
 PMID:17468186
 著者        Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T
 タイトル      High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
 雑誌        Eur J Endocrinol 156:511-9 (2007)
 DOI:10.1530/EJE-07-0037
 PMID:16424561
 著者        Kumar PG, Anand SS, Sood V, Kotwal N
 タイトル      Thyroid dyshormonogenesis.
 雑誌        Indian Pediatr 42:1233-5 (2005)
 PMID:15863666
 著者        Park SM, Chatterjee VK
 タイトル      Genetics of congenital hypothyroidism.
 雑誌        J Med Genet 42:379-89 (2005)
 DOI:10.1136/jmg.2004.024158
 PMID:18042646
 著者        Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G
 タイトル      Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
 雑誌        J Clin Endocrinol Metab 93:605-10 (2008)
 DOI:10.1210/jc.2007-2020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00251"">H00251</a>","甲状腺内分泌不全症;
 内分泌不全性甲状腺腫",Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.,"<a href=""https://www.kegg.jp/network/nt06322"">nt06322</a>  TRH-TSH-TH signaling","(Type 1) SLC5A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6528"">6528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14385"">K14385</a>]
 (Type 2A) TPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7173"">7173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00431"">K00431</a>]
 (Type 2B) SLC26A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5172"">5172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14702"">K14702</a>]
 (Type 2B) FOXI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2299"">2299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09401"">K09401</a>]
 (Type 4) IYD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:389434"">389434</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17231"">K17231</a>]
 (Type 5) DUOXA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:405753"">405753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17232"">K17232</a>]
 TG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7038"">7038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10809"">K10809</a>]
 (Type 6) DUOX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50506"">50506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13411"">K13411</a>]",,,,,,"ICD-11: 5A00.00
 ICD-10: E07.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564766"">C564766</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563206"">C563206</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536648"">C536648</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562769"">C562769</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562770"">C562770</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562771"">C562771</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564608"">C564608</a>
 OMIM: <a href=""https://www.omim.org/entry/274400"">274400</a> <a href=""https://www.omim.org/entry/274500"">274500</a> <a href=""https://www.omim.org/entry/274600"">274600</a> <a href=""https://www.omim.org/entry/274800"">274800</a> <a href=""https://www.omim.org/entry/274900"">274900</a> <a href=""https://www.omim.org/entry/607200"">607200</a> <a href=""https://www.omim.org/entry/188450"">188450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17551472"">17551472</a>
 著者        Topaloglu AK
 タイトル      Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.
 雑誌        Pediatr Endocrinol Rev 3  Suppl 3:498-502 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17684392"">17684392</a>
 著者        Moreno JC, Visser TJ
 タイトル      New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
 雑誌        Endocr Dev 10:99-117 (2007)
 DOI:<a href=""https://doi.org/10.1159/0000106822"">10.1159/0000106822</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17468186"">17468186</a>
 著者        Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T
 タイトル      High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
 雑誌        Eur J Endocrinol 156:511-9 (2007)
 DOI:<a href=""https://doi.org/10.1530/EJE-07-0037"">10.1530/EJE-07-0037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16424561"">16424561</a>
 著者        Kumar PG, Anand SS, Sood V, Kotwal N
 タイトル      Thyroid dyshormonogenesis.
 雑誌        Indian Pediatr 42:1233-5 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15863666"">15863666</a>
 著者        Park SM, Chatterjee VK
 タイトル      Genetics of congenital hypothyroidism.
 雑誌        J Med Genet 42:379-89 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.024158"">10.1136/jmg.2004.024158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18042646"">18042646</a>
 著者        Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G
 タイトル      Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
 雑誌        J Clin Endocrinol Metab 93:605-10 (2008)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-2020"">10.1210/jc.2007-2020</a>"
H00252,先天性腎性尿崩症,,,Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin.,泌尿器系疾患,,"(NDI1) AVPR2 [HSA:554] [KO:K04228]
 (NDI2) AQP2 [HSA:359] [KO:K09865]",,,,,,"ICD-11: GB90.4A
 ICD-10: N25.1
 MeSH: D018500
 OMIM: 304800 125800","PMID:17908859
 著者        Linshaw MA
 タイトル      Back to basics: congenital nephrogenic diabetes insipidus.
 雑誌        Pediatr Rev 28:372-80 (2007)
 DOI:10.1542/pir.28-10-372
 PMID:16580609
 著者        Bichet DG
 タイトル      Nephrogenic diabetes insipidus.
 雑誌        Adv Chronic Kidney Dis 13:96-104 (2006)
 DOI:10.1053/j.ackd.2006.01.006
 PMID:11793119
 著者        Knoers NV, Deen PM
 タイトル      Molecular and cellular defects in nephrogenic diabetes insipidus.
 雑誌        Pediatr Nephrol 16:1146-52 (2001)
 DOI:10.1007/s004670100051","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00252"">H00252</a>",先天性腎性尿崩症,Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin.,,"(NDI1) AVPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:554"">554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04228"">K04228</a>]
 (NDI2) AQP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:359"">359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09865"">K09865</a>]",,,,,,"ICD-11: GB90.4A
 ICD-10: N25.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018500"">D018500</a>
 OMIM: <a href=""https://www.omim.org/entry/304800"">304800</a> <a href=""https://www.omim.org/entry/125800"">125800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17908859"">17908859</a>
 著者        Linshaw MA
 タイトル      Back to basics: congenital nephrogenic diabetes insipidus.
 雑誌        Pediatr Rev 28:372-80 (2007)
 DOI:<a href=""https://doi.org/10.1542/pir.28-10-372"">10.1542/pir.28-10-372</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16580609"">16580609</a>
 著者        Bichet DG
 タイトル      Nephrogenic diabetes insipidus.
 雑誌        Adv Chronic Kidney Dis 13:96-104 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.ackd.2006.01.006"">10.1053/j.ackd.2006.01.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11793119"">11793119</a>
 著者        Knoers NV, Deen PM
 タイトル      Molecular and cellular defects in nephrogenic diabetes insipidus.
 雑誌        Pediatr Nephrol 16:1146-52 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004670100051"">10.1007/s004670100051</a>"
H00253,"神経下垂体性尿崩症;
 中枢性尿崩症
 上位グループ    ADH 分泌異常症 [DS:H01683]",,,Central Diabetes Insipidus is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland.,内分泌系疾患; 腎疾患,nt06326  AVP signaling,AVP [HSA:551] [KO:K05242],,,,"バソプレシン [DR:D00101]
 デスモプレシン酢酸塩水和物 [DR:D02235]",,"ICD-11: 5A61.5
 ICD-10: E23.2
 MeSH: D020790
 OMIM: 125700","PMID:16713494
 著者        Christensen JH, Rittig S
 タイトル      Familial neurohypophyseal diabetes insipidus--an update.
 雑誌        Semin Nephrol 26:209-23 (2006)
 DOI:10.1016/j.semnephrol.2006.03.003
 PMID:12874957
 著者        Christensen JH, Siggaard C, Rittig S
 タイトル      Autosomal dominant familial neurohypophyseal diabetes insipidus.
 雑誌        APMIS Suppl 92-5 (2003)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00253"">H00253</a>","神経下垂体性尿崩症;
 中枢性尿崩症
 上位グループ    ADH 分泌異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01683"">H01683</a>]",Central Diabetes Insipidus is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland.,"<a href=""https://www.kegg.jp/network/nt06326"">nt06326</a>  AVP signaling","AVP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:551"">551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05242"">K05242</a>]",,,,"バソプレシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00101"">D00101</a>]
 デスモプレシン酢酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02235"">D02235</a>]",,"ICD-11: 5A61.5
 ICD-10: E23.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020790"">D020790</a>
 OMIM: <a href=""https://www.omim.org/entry/125700"">125700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16713494"">16713494</a>
 著者        Christensen JH, Rittig S
 タイトル      Familial neurohypophyseal diabetes insipidus--an update.
 雑誌        Semin Nephrol 26:209-23 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.semnephrol.2006.03.003"">10.1016/j.semnephrol.2006.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12874957"">12874957</a>
 著者        Christensen JH, Siggaard C, Rittig S
 タイトル      Autosomal dominant familial neurohypophyseal diabetes insipidus.
 雑誌        APMIS Suppl 92-5 (2003)"
H00254,"成長ホルモン分泌不全症;
 下垂体性低身長症
 下位グループ    成長ホルモン単独欠損症 [DS:H02035]
 複合下垂体ホルモン欠損症 [DS:H02036]
 ラロン症候群 [DS:H02037]
 X連鎖性汎下垂体機能低下症 [DS:H02038]
 Kowarski 症候群 [DS:H02039]
 成長ホルモン単独欠損症部分型 (GHDP)
 上位グループ    下垂体前葉機能低下症 [DS:H01700]",,,"Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short statue and normal body proportions caused by growth hormone deficiency.",内分泌代謝疾患,nt06324  GHRH-GH-IGF signaling,"(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
 (IGHD3) BTK [HSA:695] [KO:K07370]
 (IGHD4) GHRHR [HSA:2692] [KO:K04584]
 (CPHD1) POU1F1 [HSA:5449] [KO:K09363]
 (CPHD2) PROP1 [HSA:5626] [KO:K09327]
 (CPHD3) LHX3 [HSA:8022] [KO:K09374]
 (CPHD4) LHX4 [HSA:89884] [KO:K09374]
 (CPHD5) HESX1 [HSA:8820] [KO:K09354]
 (CPHD6) OTX2 [HSA:5015] [KO:K18490]
 (CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
 (PD2) GHR [HSA:2690] [KO:K05080]
 (PHPX) SOX3 [HSA:6658] [KO:K09267]
 (GHDP) GHSR [HSA:2693] [KO:K04284]",,,,"ソマトロピン [DR:D02691]
 ソマプシタン [DR:D11194]
 ソムアトロゴン [DR:D10990]
 ゴナドレリン酢酸塩 [DR:D03267]",,"ICD-11: 5A61.0 5A61.3
 ICD-10: E23.0
 MeSH: D004393
 OMIM: 262400 613038 262500 312000 262650 615925 618157 618160","PMID:7868072
 著者        Perez Jurado LA, Argente J
 タイトル      Molecular basis of familial growth hormone deficiency.
 雑誌        Horm Res 42:189-97 (1994)
 DOI:10.1159/000184192
 PMID:9799079
 著者        Procter AM, Phillips JA 3rd, Cooper DN
 タイトル      The molecular genetics of growth hormone deficiency.
 雑誌        Hum Genet 103:255-72 (1998)
 DOI:10.1007/s004390050815
 PMID:12201208
 著者        Hayashi Y, Kamijo T, Ogawa M, Seo H
 タイトル      Familial isolated growth hormone deficiency: genetics and pathophysiology.
 雑誌        Endocr J 49:265-72 (2002)
 DOI:10.1507/endocrj.49.265
 PMID:17965963
 著者        Hernandez LM, Lee PD, Camacho-Hubner C
 タイトル      Isolated growth hormone deficiency.
 雑誌        Pituitary 10:351-7 (2007)
 DOI:10.1007/s11102-007-0073-3
 PMID:17336732
 著者        Mullis PE
 タイトル      Genetics of growth hormone deficiency.
 雑誌        Endocrinol Metab Clin North Am 36:17-36 (2007)
 DOI:10.1016/j.ecl.2006.11.010
 PMID:8488849 (GHR)
 著者        Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom A, Toledo SP, Francke U
 タイトル      Diverse growth hormone receptor gene mutations in Laron syndrome.
 雑誌        Am J Hum Genet 52:998-1005 (1993)
 PMID:12428212 (SOX3)
 著者        Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S
 タイトル      Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
 雑誌        Am J Hum Genet 71:1450-5 (2002)
 DOI:10.1086/344661
 PMID:16511605 (GHSR)
 著者        Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S
 タイトル      Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
 雑誌        J Clin Invest 116:760-8 (2006)
 DOI:10.1172/JCI25303","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>","成長ホルモン分泌不全症;
 下垂体性低身長症
 下位グループ    成長ホルモン単独欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02035"">H02035</a>]
 複合下垂体ホルモン欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02036"">H02036</a>]
 ラロン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02037"">H02037</a>]
 X連鎖性汎下垂体機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02038"">H02038</a>]
 Kowarski 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02039"">H02039</a>]
 成長ホルモン単独欠損症部分型 (GHDP)
 上位グループ    下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short statue and normal body proportions caused by growth hormone deficiency.","<a href=""https://www.kegg.jp/network/nt06324"">nt06324</a>  GHRH-GH-IGF signaling","(IGHD1A/1B/2) GH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2688"">2688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05438"">K05438</a>]
 (IGHD3) BTK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:695"">695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07370"">K07370</a>]
 (IGHD4) GHRHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2692"">2692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04584"">K04584</a>]
 (CPHD1) POU1F1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5449"">5449</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09363"">K09363</a>]
 (CPHD2) PROP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5626"">5626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09327"">K09327</a>]
 (CPHD3) LHX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8022"">8022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09374"">K09374</a>]
 (CPHD4) LHX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89884"">89884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09374"">K09374</a>]
 (CPHD5) HESX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8820"">8820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09354"">K09354</a>]
 (CPHD6) OTX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5015"">5015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18490"">K18490</a>]
 (CPHD7/IGHD5) RNPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55599"">55599</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13157"">K13157</a>]
 (PD2) GHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2690"">2690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05080"">K05080</a>]
 (PHPX) SOX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6658"">6658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09267"">K09267</a>]
 (GHDP) GHSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2693"">2693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04284"">K04284</a>]",,,,"ソマトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02691"">D02691</a>]
 ソマプシタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11194"">D11194</a>]
 ソムアトロゴン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10990"">D10990</a>]
 ゴナドレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03267"">D03267</a>]",,"ICD-11: 5A61.0 5A61.3
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004393"">D004393</a>
 OMIM: <a href=""https://www.omim.org/entry/262400"">262400</a> <a href=""https://www.omim.org/entry/613038"">613038</a> <a href=""https://www.omim.org/entry/262500"">262500</a> <a href=""https://www.omim.org/entry/312000"">312000</a> <a href=""https://www.omim.org/entry/262650"">262650</a> <a href=""https://www.omim.org/entry/615925"">615925</a> <a href=""https://www.omim.org/entry/618157"">618157</a> <a href=""https://www.omim.org/entry/618160"">618160</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7868072"">7868072</a>
 著者        Perez Jurado LA, Argente J
 タイトル      Molecular basis of familial growth hormone deficiency.
 雑誌        Horm Res 42:189-97 (1994)
 DOI:<a href=""https://doi.org/10.1159/000184192"">10.1159/000184192</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9799079"">9799079</a>
 著者        Procter AM, Phillips JA 3rd, Cooper DN
 タイトル      The molecular genetics of growth hormone deficiency.
 雑誌        Hum Genet 103:255-72 (1998)
 DOI:<a href=""https://doi.org/10.1007/s004390050815"">10.1007/s004390050815</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12201208"">12201208</a>
 著者        Hayashi Y, Kamijo T, Ogawa M, Seo H
 タイトル      Familial isolated growth hormone deficiency: genetics and pathophysiology.
 雑誌        Endocr J 49:265-72 (2002)
 DOI:<a href=""https://doi.org/10.1507/endocrj.49.265"">10.1507/endocrj.49.265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17965963"">17965963</a>
 著者        Hernandez LM, Lee PD, Camacho-Hubner C
 タイトル      Isolated growth hormone deficiency.
 雑誌        Pituitary 10:351-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/s11102-007-0073-3"">10.1007/s11102-007-0073-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17336732"">17336732</a>
 著者        Mullis PE
 タイトル      Genetics of growth hormone deficiency.
 雑誌        Endocrinol Metab Clin North Am 36:17-36 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ecl.2006.11.010"">10.1016/j.ecl.2006.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8488849"">8488849</a> (GHR)
 著者        Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom A, Toledo SP, Francke U
 タイトル      Diverse growth hormone receptor gene mutations in Laron syndrome.
 雑誌        Am J Hum Genet 52:998-1005 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12428212"">12428212</a> (SOX3)
 著者        Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S
 タイトル      Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
 雑誌        Am J Hum Genet 71:1450-5 (2002)
 DOI:<a href=""https://doi.org/10.1086/344661"">10.1086/344661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16511605"">16511605</a> (GHSR)
 著者        Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S
 タイトル      Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
 雑誌        J Clin Invest 116:760-8 (2006)
 DOI:<a href=""https://doi.org/10.1172/JCI25303"">10.1172/JCI25303</a>"
H00255,"低ゴナドトロピン性性腺機能低下症
 下位グループ    カルマン症候群
 Fertile eunuch 症候群 [DS:H01973]
 卵胞刺激ホルモン単独欠損症 [DS:H01253]
 上位グループ    下垂体前葉機能低下症 [DS:H01700]",,,"Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate hypothalamic gonadotropin releasing hormone (GnRH) secretion or failure of pituitary gonadotropin secretion. HH can be congenital or acquired. Congenital HH is clinically and genetically heterogeneous. Clinically, the disorder is characterized by an absence of puberty and infertility. The genetic condition is classically divided in 2 groups based on the presence or absence of olfaction dysfunction. Around 50-60% of the affected individuals exhibit anosmia or hyposmia in association with IHH, defining Kallmann syndrome. Acquired HH can be caused by drugs, infiltrative or infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.",内分泌系疾患,"nt06323  KISS1-GnRH-LH/FSH-E2 signaling
 nt06361  Hypogonadotropic hypogonadism","(HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413]
 (HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
 (HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
 (HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
 (HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
 (HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
 (HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
 (HH8) KISS1R [HSA:84634] [KO:K08374]
 (HH9) NSMF [HSA:26012] [KO:K23844]
 (HH10) TAC3 [HSA:6866] [KO:K05240]
 (HH11) TACR3 [HSA:6870] [KO:K04224]
 (HH12) GNRH1 [HSA:2796] [KO:K05252]
 (HH13) KISS1 [HSA:3814] [KO:K23140]
 (HH14) WDR11 [HSA:55717] [KO:K24260]
 (HH15) HS6ST1 [HSA:9394] [KO:K02514]
 (HH16) SEMA3A [HSA:10371] [KO:K06840]
 (HH17) SPRY4 [HSA:81848] [KO:K17385]
 (HH18) IL17RD [HSA:54756] [KO:K05167]
 (HH19) DUSP6 [HSA:1848] [KO:K21946]
 (HH20) FGF17 [HSA:8822] [KO:K04358]
 (HH21) FLRT3 [HSA:23767] [KO:K16362]
 (HH22) FEZF1 [HSA:389549] [KO:K24502]
 (HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
 (HH24/IFSHD) FSHB [HSA:2488] [KO:K05250]
 (HH25) NDNF [HSA:79625] [KO:K25687]
 (HH26) TCF12 [HSA:6938] [KO:K15603]
 (HH27) NHLH2 [HSA:4808] [KO:K09075]",,,,"ヒト絨毛性性腺刺激ホルモン [DR:D06457]
 ホリトロピンアルファ [DR:D04429]
 ゴナドレリン酢酸塩 [DR:D03267]",,"ICD-11: 5A61.2
 ICD-10: E23.0
 MeSH: D007006 D017436 C537919
 OMIM: 308700 147950 244200 610628 612370 612702 146110 614837 614838 614839 614840 614841 614842 228300 614858 614880 614897 615266 615267 615269 615270 615271 616030 618841 619718 619755","PMID:18985070
 著者        Dode C, Hardelin JP
 タイトル      Kallmann syndrome.
 雑誌        Eur J Hum Genet 17:139-46 (2009)
 DOI:10.1038/ejhg.2008.206
 PMID:18987492
 著者        Hardelin JP, Dode C
 タイトル      The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
 雑誌        Sex Dev 2:181-93 (2008)
 DOI:10.1159/000152034
 PMID:26194704
 著者        Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
 タイトル      Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
 雑誌        Nat Rev Endocrinol 11:547-64 (2015)
 DOI:10.1038/nrendo.2015.112
 PMID:1594017 (ANOS1)
 著者        Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A
 タイトル      Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
 雑誌        N Engl J Med 326:1752-5 (1992)
 DOI:10.1056/NEJM199206253262606
 PMID:12627230 (FGFR1)
 著者        Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP
 タイトル      Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
 雑誌        Nat Genet 33:463-5 (2003)
 DOI:10.1038/ng1122
 PMID:17054399 (PROKR2 PROK2)
 著者        Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP
 タイトル      Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
 雑誌        PLoS Genet 2:e175 (2006)
 DOI:10.1371/journal.pgen.0020175
 PMID:18834967 (CHD7)
 著者        Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC
 タイトル      Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
 雑誌        Am J Hum Genet 83:511-9 (2008)
 DOI:10.1016/j.ajhg.2008.09.005
 PMID:18596921 (FGF8)
 著者        Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N
 タイトル      Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
 雑誌        J Clin Invest 118:2822-31 (2008)
 DOI:10.1172/JCI34538
 PMID:11397842 (GNRHR)
 著者        Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ
 タイトル      The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
 雑誌        J Clin Endocrinol Metab 86:2470-5 (2001)
 DOI:10.1210/jcem.86.6.7542
 PMID:14573733 (KISS1R)
 著者        Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH
 タイトル      The GPR54 gene as a regulator of puberty.
 雑誌        N Engl J Med 349:1614-27 (2003)
 DOI:10.1056/NEJMoa035322
 PMID:15362570 (NSMF)
 著者        Miura K, Acierno JS Jr, Seminara SB
 タイトル      Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
 雑誌        J Hum Genet 49:265-8 (2004)
 DOI:10.1007/s10038-004-0137-4
 PMID:19079066 (TAC3 TACR3)
 著者        Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK
 タイトル      TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
 雑誌        Nat Genet 41:354-8 (2009)
 DOI:10.1038/ng.306
 PMID:19535795 (GNRH1)
 著者        Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombes M, Millar RP, Guiochon-Mantel A, Young J
 タイトル      Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
 雑誌        N Engl J Med 360:2742-8 (2009)
 DOI:10.1056/NEJMoa0900136
 PMID:22335740 (KISS1)
 著者        Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B
 タイトル      Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
 雑誌        N Engl J Med 366:629-35 (2012)
 DOI:10.1056/NEJMoa1111184
 PMID:20887964 (WDR11)
 著者        Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC
 タイトル      WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
 雑誌        Am J Hum Genet 87:465-79 (2010)
 DOI:10.1016/j.ajhg.2010.08.018
 PMID:21700882 (HS6ST1)
 著者        Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE
 タイトル      Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
 雑誌        Proc Natl Acad Sci U S A 108:11524-9 (2011)
 DOI:10.1073/pnas.1102284108
 PMID:22927827 (SEMA3A)
 著者        Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, Garcia-Pinero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dode C
 タイトル      SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
 雑誌        PLoS Genet 8:e1002896 (2012)
 DOI:10.1371/journal.pgen.1002896
 PMID:23643382 (SPRY4 IL17RD DUSP6 FGF17 FLRT3)
 著者        Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
 タイトル      Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
 雑誌        Am J Hum Genet 92:725-43 (2013)
 DOI:10.1016/j.ajhg.2013.04.008
 PMID:25192046 (FEZF1)
 著者        Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
 タイトル      Mutations in FEZF1 cause Kallmann syndrome.
 雑誌        Am J Hum Genet 95:326-31 (2014)
 DOI:10.1016/j.ajhg.2014.08.006
 PMID:19129711 (LHB)
 著者        Arnhold IJ, Lofrano-Porto A, Latronico AC
 タイトル      Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
 雑誌        Horm Res 71:75-82 (2009)
 DOI:10.1159/000183895
 PMID:8220432 (FSHB)
 著者        Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK
 タイトル      Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone.
 雑誌        Nat Genet 5:83-6 (1993)
 DOI:10.1038/ng0993-83
 PMID:31883645 (NDNF)
 著者        Messina A, Pulli K, Santini S, Acierno J, Kansakoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederlander NJ, Giacobini P, Raivio T, Pitteloud N
 タイトル      Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
 雑誌        Am J Hum Genet 106:58-70 (2020)
 DOI:10.1016/j.ajhg.2019.12.003
 PMID:32620954 (TCF12)
 著者        Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N
 タイトル      TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
 雑誌        Hum Mol Genet 29:2435-2450 (2020)
 DOI:10.1093/hmg/ddaa120
 PMID:35066646 (NHLH2)
 著者        Topaloglu AK, Simsek E, Kocher MA, Mammadova J, Bober E, Kotan LD, Turan I, Celiloglu C, Gurbuz F, Yuksel B, Good DJ
 タイトル      Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
 雑誌        Hum Genet 141:295-304 (2022)
 DOI:10.1007/s00439-021-02422-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a>","低ゴナドトロピン性性腺機能低下症
 下位グループ    カルマン症候群
 Fertile eunuch 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01973"">H01973</a>]
 卵胞刺激ホルモン単独欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01253"">H01253</a>]
 上位グループ    下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate hypothalamic gonadotropin releasing hormone (GnRH) secretion or failure of pituitary gonadotropin secretion. HH can be congenital or acquired. Congenital HH is clinically and genetically heterogeneous. Clinically, the disorder is characterized by an absence of puberty and infertility. The genetic condition is classically divided in 2 groups based on the presence or absence of olfaction dysfunction. Around 50-60% of the affected individuals exhibit anosmia or hyposmia in association with IHH, defining Kallmann syndrome. Acquired HH can be caused by drugs, infiltrative or infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.","<a href=""https://www.kegg.jp/network/nt06323"">nt06323</a>  KISS1-GnRH-LH/FSH-E2 signaling
 <a href=""https://www.kegg.jp/network/nt06361"">nt06361</a>  Hypogonadotropic hypogonadism","(HH1/KAL1) ANOS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3730"">3730</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23413"">K23413</a>]
 (HH2/KAL2) FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 (HH3/KAL3) PROKR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128674"">128674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08380"">K08380</a>]
 (HH4/KAL4) PROK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60675"">60675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24191"">K24191</a>]
 (HH5/KAL5) CHD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55636"">55636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14437"">K14437</a>]
 (HH6/KAL6) FGF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2253"">2253</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 (HH7/FEUNS) GNRHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2798"">2798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04280"">K04280</a>]
 (HH8) KISS1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84634"">84634</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08374"">K08374</a>]
 (HH9) NSMF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26012"">26012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23844"">K23844</a>]
 (HH10) TAC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6866"">6866</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05240"">K05240</a>]
 (HH11) TACR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6870"">6870</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04224"">K04224</a>]
 (HH12) GNRH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2796"">2796</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05252"">K05252</a>]
 (HH13) KISS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3814"">3814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23140"">K23140</a>]
 (HH14) WDR11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55717"">55717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24260"">K24260</a>]
 (HH15) HS6ST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9394"">9394</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02514"">K02514</a>]
 (HH16) SEMA3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10371"">10371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06840"">K06840</a>]
 (HH17) SPRY4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81848"">81848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17385"">K17385</a>]
 (HH18) IL17RD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54756"">54756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05167"">K05167</a>]
 (HH19) DUSP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1848"">1848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21946"">K21946</a>]
 (HH20) FGF17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8822"">8822</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 (HH21) FLRT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23767"">23767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16362"">K16362</a>]
 (HH22) FEZF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:389549"">389549</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24502"">K24502</a>]
 (HH23/FEUNS) LHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3972"">3972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08521"">K08521</a>]
 (HH24/IFSHD) FSHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2488"">2488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05250"">K05250</a>]
 (HH25) NDNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79625"">79625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25687"">K25687</a>]
 (HH26) TCF12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6938"">6938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15603"">K15603</a>]
 (HH27) NHLH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4808"">4808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09075"">K09075</a>]",,,,"ヒト絨毛性性腺刺激ホルモン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06457"">D06457</a>]
 ホリトロピンアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04429"">D04429</a>]
 ゴナドレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03267"">D03267</a>]",,"ICD-11: 5A61.2
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007006"">D007006</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017436"">D017436</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537919"">C537919</a>
 OMIM: <a href=""https://www.omim.org/entry/308700"">308700</a> <a href=""https://www.omim.org/entry/147950"">147950</a> <a href=""https://www.omim.org/entry/244200"">244200</a> <a href=""https://www.omim.org/entry/610628"">610628</a> <a href=""https://www.omim.org/entry/612370"">612370</a> <a href=""https://www.omim.org/entry/612702"">612702</a> <a href=""https://www.omim.org/entry/146110"">146110</a> <a href=""https://www.omim.org/entry/614837"">614837</a> <a href=""https://www.omim.org/entry/614838"">614838</a> <a href=""https://www.omim.org/entry/614839"">614839</a> <a href=""https://www.omim.org/entry/614840"">614840</a> <a href=""https://www.omim.org/entry/614841"">614841</a> <a href=""https://www.omim.org/entry/614842"">614842</a> <a href=""https://www.omim.org/entry/228300"">228300</a> <a href=""https://www.omim.org/entry/614858"">614858</a> <a href=""https://www.omim.org/entry/614880"">614880</a> <a href=""https://www.omim.org/entry/614897"">614897</a> <a href=""https://www.omim.org/entry/615266"">615266</a> <a href=""https://www.omim.org/entry/615267"">615267</a> <a href=""https://www.omim.org/entry/615269"">615269</a> <a href=""https://www.omim.org/entry/615270"">615270</a> <a href=""https://www.omim.org/entry/615271"">615271</a> <a href=""https://www.omim.org/entry/616030"">616030</a> <a href=""https://www.omim.org/entry/618841"">618841</a> <a href=""https://www.omim.org/entry/619718"">619718</a> <a href=""https://www.omim.org/entry/619755"">619755</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18985070"">18985070</a>
 著者        Dode C, Hardelin JP
 タイトル      Kallmann syndrome.
 雑誌        Eur J Hum Genet 17:139-46 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.206"">10.1038/ejhg.2008.206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18987492"">18987492</a>
 著者        Hardelin JP, Dode C
 タイトル      The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
 雑誌        Sex Dev 2:181-93 (2008)
 DOI:<a href=""https://doi.org/10.1159/000152034"">10.1159/000152034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26194704"">26194704</a>
 著者        Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
 タイトル      Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
 雑誌        Nat Rev Endocrinol 11:547-64 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2015.112"">10.1038/nrendo.2015.112</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1594017"">1594017</a> (ANOS1)
 著者        Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A
 タイトル      Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
 雑誌        N Engl J Med 326:1752-5 (1992)
 DOI:<a href=""https://doi.org/10.1056/NEJM199206253262606"">10.1056/NEJM199206253262606</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12627230"">12627230</a> (FGFR1)
 著者        Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP
 タイトル      Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
 雑誌        Nat Genet 33:463-5 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1122"">10.1038/ng1122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17054399"">17054399</a> (PROKR2 <a href=""https://pubmed.ncbi.nlm.nih.gov/PROK2)"">PROK2)</a>
 著者        Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP
 タイトル      Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
 雑誌        PLoS Genet 2:e175 (2006)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.0020175"">10.1371/journal.pgen.0020175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18834967"">18834967</a> (CHD7)
 著者        Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC
 タイトル      Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
 雑誌        Am J Hum Genet 83:511-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.09.005"">10.1016/j.ajhg.2008.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18596921"">18596921</a> (FGF8)
 著者        Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N
 タイトル      Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
 雑誌        J Clin Invest 118:2822-31 (2008)
 DOI:<a href=""https://doi.org/10.1172/JCI34538"">10.1172/JCI34538</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11397842"">11397842</a> (GNRHR)
 著者        Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ
 タイトル      The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
 雑誌        J Clin Endocrinol Metab 86:2470-5 (2001)
 DOI:<a href=""https://doi.org/10.1210/jcem.86.6.7542"">10.1210/jcem.86.6.7542</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14573733"">14573733</a> (KISS1R)
 著者        Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH
 タイトル      The GPR54 gene as a regulator of puberty.
 雑誌        N Engl J Med 349:1614-27 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa035322"">10.1056/NEJMoa035322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15362570"">15362570</a> (NSMF)
 著者        Miura K, Acierno JS Jr, Seminara SB
 タイトル      Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
 雑誌        J Hum Genet 49:265-8 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10038-004-0137-4"">10.1007/s10038-004-0137-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19079066"">19079066</a> (TAC3 <a href=""https://pubmed.ncbi.nlm.nih.gov/TACR3)"">TACR3)</a>
 著者        Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK
 タイトル      TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
 雑誌        Nat Genet 41:354-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.306"">10.1038/ng.306</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19535795"">19535795</a> (GNRH1)
 著者        Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombes M, Millar RP, Guiochon-Mantel A, Young J
 タイトル      Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
 雑誌        N Engl J Med 360:2742-8 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900136"">10.1056/NEJMoa0900136</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22335740"">22335740</a> (KISS1)
 著者        Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B
 タイトル      Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
 雑誌        N Engl J Med 366:629-35 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1111184"">10.1056/NEJMoa1111184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20887964"">20887964</a> (WDR11)
 著者        Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC
 タイトル      WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
 雑誌        Am J Hum Genet 87:465-79 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.018"">10.1016/j.ajhg.2010.08.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21700882"">21700882</a> (HS6ST1)
 著者        Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE
 タイトル      Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
 雑誌        Proc Natl Acad Sci U S A 108:11524-9 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1102284108"">10.1073/pnas.1102284108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22927827"">22927827</a> (SEMA3A)
 著者        Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, Garcia-Pinero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dode C
 タイトル      SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
 雑誌        PLoS Genet 8:e1002896 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002896"">10.1371/journal.pgen.1002896</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23643382"">23643382</a> (SPRY4 <a href=""https://pubmed.ncbi.nlm.nih.gov/IL17RD"">IL17RD</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/DUSP6"">DUSP6</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGF17"">FGF17</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FLRT3)"">FLRT3)</a>
 著者        Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
 タイトル      Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
 雑誌        Am J Hum Genet 92:725-43 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.008"">10.1016/j.ajhg.2013.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25192046"">25192046</a> (FEZF1)
 著者        Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
 タイトル      Mutations in FEZF1 cause Kallmann syndrome.
 雑誌        Am J Hum Genet 95:326-31 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.08.006"">10.1016/j.ajhg.2014.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19129711"">19129711</a> (LHB)
 著者        Arnhold IJ, Lofrano-Porto A, Latronico AC
 タイトル      Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
 雑誌        Horm Res 71:75-82 (2009)
 DOI:<a href=""https://doi.org/10.1159/000183895"">10.1159/000183895</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8220432"">8220432</a> (FSHB)
 著者        Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK
 タイトル      Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone.
 雑誌        Nat Genet 5:83-6 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng0993-83"">10.1038/ng0993-83</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31883645"">31883645</a> (NDNF)
 著者        Messina A, Pulli K, Santini S, Acierno J, Kansakoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederlander NJ, Giacobini P, Raivio T, Pitteloud N
 タイトル      Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
 雑誌        Am J Hum Genet 106:58-70 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.003"">10.1016/j.ajhg.2019.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32620954"">32620954</a> (TCF12)
 著者        Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N
 タイトル      TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
 雑誌        Hum Mol Genet 29:2435-2450 (2020)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddaa120"">10.1093/hmg/ddaa120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/35066646"">35066646</a> (NHLH2)
 著者        Topaloglu AK, Simsek E, Kocher MA, Mammadova J, Bober E, Kotan LD, Turan I, Celiloglu C, Gurbuz F, Yuksel B, Good DJ
 タイトル      Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
 雑誌        Hum Genet 141:295-304 (2022)
 DOI:<a href=""https://doi.org/10.1007/s00439-021-02422-9"">10.1007/s00439-021-02422-9</a>"
H00256,"家族性糖質コルチコイド欠損症;
 副腎皮質刺激ホルモン不応症",,,"Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP).",内分泌系疾患,nt06310  CRH-ACTH-cortisol signaling,"(FGD1) MC2R [HSA:4158] [KO:K04200]
 (FGD2) MRAP [HSA:56246] [KO:K22398]
 (FGD4) NNT [HSA:23530] [KO:K00323]
 (FGD5) TXNRD2 [HSA:10587] [KO:K22182]",,,,,See also H00257 Achalasia-Addisonianism-Alacrima syndrome.,"ICD-11: 5A74.Y
 ICD-10: E27
 MeSH: C565974 C564577
 OMIM: 202200 607398 609197 614736 617825","PMID:18059087
 著者        Chan LF, Clark AJ, Metherell LA
 タイトル      Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
 雑誌        Horm Res 69:75-82 (2008)
 DOI:10.1159/000111810
 PMID:18493136
 著者        Cooray SN, Chan L, Metherell L, Storr H, Clark AJ
 タイトル      Adrenocorticotropin resistance syndromes.
 雑誌        Endocr Dev 13:99-116 (2008)
 DOI:10.1159/000134828
 PMID:17161331
 著者        Metherell LA, Chan LF, Clark AJ
 タイトル      The genetics of ACTH resistance syndromes.
 雑誌        Best Pract Res Clin Endocrinol Metab 20:547-60 (2006)
 DOI:10.1016/j.beem.2006.09.002
 PMID:22634753
 著者        Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nurnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA
 タイトル      Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
 雑誌        Nat Genet 44:740-2 (2012)
 DOI:10.1038/ng.2299
 PMID:17893271 (drug , marker)
 著者        Rumie H, Metherell LA, Clark AJ, Beauloye V, Maes M
 タイトル      Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
 雑誌        Eur J Endocrinol 157:539-42 (2007)
 DOI:10.1530/EJE-07-0242
 PMID:9196605 (marker)
 著者        Weber A, Clark AJ, Perry LA, Honour JW, Savage MO
 タイトル      Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche.
 雑誌        Clin Endocrinol (Oxf) 46:431-7 (1997)
 DOI:10.1046/j.1365-2265.1997.1580969.x
 PMID:24601690
 著者        Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA
 タイトル      Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
 雑誌        J Clin Endocrinol Metab 99:E1556-63 (2014)
 DOI:10.1210/jc.2013-3844","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00256"">H00256</a>","家族性糖質コルチコイド欠損症;
 副腎皮質刺激ホルモン不応症","Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP).","<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","(FGD1) MC2R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4158"">4158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04200"">K04200</a>]
 (FGD2) MRAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56246"">56246</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22398"">K22398</a>]
 (FGD4) NNT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23530"">23530</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00323"">K00323</a>]
 (FGD5) TXNRD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10587"">10587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22182"">K22182</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00257"">H00257</a> Achalasia-Addisonianism-Alacrima syndrome.","ICD-11: 5A74.Y
 ICD-10: E27
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565974"">C565974</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564577"">C564577</a>
 OMIM: <a href=""https://www.omim.org/entry/202200"">202200</a> <a href=""https://www.omim.org/entry/607398"">607398</a> <a href=""https://www.omim.org/entry/609197"">609197</a> <a href=""https://www.omim.org/entry/614736"">614736</a> <a href=""https://www.omim.org/entry/617825"">617825</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18059087"">18059087</a>
 著者        Chan LF, Clark AJ, Metherell LA
 タイトル      Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
 雑誌        Horm Res 69:75-82 (2008)
 DOI:<a href=""https://doi.org/10.1159/000111810"">10.1159/000111810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18493136"">18493136</a>
 著者        Cooray SN, Chan L, Metherell L, Storr H, Clark AJ
 タイトル      Adrenocorticotropin resistance syndromes.
 雑誌        Endocr Dev 13:99-116 (2008)
 DOI:<a href=""https://doi.org/10.1159/000134828"">10.1159/000134828</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17161331"">17161331</a>
 著者        Metherell LA, Chan LF, Clark AJ
 タイトル      The genetics of ACTH resistance syndromes.
 雑誌        Best Pract Res Clin Endocrinol Metab 20:547-60 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2006.09.002"">10.1016/j.beem.2006.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22634753"">22634753</a>
 著者        Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nurnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA
 タイトル      Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
 雑誌        Nat Genet 44:740-2 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2299"">10.1038/ng.2299</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17893271"">17893271</a> (drug <a href=""https://pubmed.ncbi.nlm.nih.gov/,"">,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Rumie H, Metherell LA, Clark AJ, Beauloye V, Maes M
 タイトル      Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
 雑誌        Eur J Endocrinol 157:539-42 (2007)
 DOI:<a href=""https://doi.org/10.1530/EJE-07-0242"">10.1530/EJE-07-0242</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9196605"">9196605</a> (marker)
 著者        Weber A, Clark AJ, Perry LA, Honour JW, Savage MO
 タイトル      Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche.
 雑誌        Clin Endocrinol (Oxf) 46:431-7 (1997)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2265.1997.1580969.x"">10.1046/j.1365-2265.1997.1580969.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24601690"">24601690</a>
 著者        Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA
 タイトル      Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
 雑誌        J Clin Endocrinol Metab 99:E1556-63 (2014)
 DOI:<a href=""https://doi.org/10.1210/jc.2013-3844"">10.1210/jc.2013-3844</a>"
H00257,"AAA 症候群;
 Triple A 症候群;
 Allogrove 症候群
 下位グループ    無涙症・食道アカラシア・精神遅滞症候群",,,"Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.",内分泌系疾患,,"(AAA) AAAS [HSA:8086] [KO:K14320]
 (AAMR) GMPPA [HSA:29926] [KO:K00966] [K00966]",,,,,,"ICD-11: 5A74.Y
 ICD-10: E27.4
 MeSH: C536008
 OMIM: 231550 615510","PMID:18426811
 著者        Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL
 タイトル      Heterogeneity in the molecular basis of ACTH resistance syndrome.
 雑誌        Eur J Endocrinol 159:61-8 (2008)
 DOI:10.1530/EJE-08-0079
 PMID:16938764
 著者        Ismail EA, Tulliot-Pelet A, Mohsen AM, Al-Saleh Q
 タイトル      Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.
 雑誌        Acta Paediatr 95:1140-3 (2006)
 DOI:10.1080/08035250500538999
 PMID:15217518
 著者        Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA
 タイトル      Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
 雑誌        BMC Ophthalmol 4:7 (2004)
 DOI:10.1186/1471-2415-4-7
 PMID:14621049
 著者        Bhargavan PV, Kumar KM, Rajendran VR, Fassaludeen AS
 タイトル      Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production.
 雑誌        J Assoc Physicians India 51:726-8 (2003)
 PMID:24035193
 著者        Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nurnberg G, Thiele H, Altmuller J, Nurnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramswig J, Muhlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hubner CA
 タイトル      Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
 雑誌        Am J Hum Genet 93:727-34 (2013)
 DOI:10.1016/j.ajhg.2013.08.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00257"">H00257</a>","AAA 症候群;
 Triple A 症候群;
 Allogrove 症候群
 下位グループ    無涙症・食道アカラシア・精神遅滞症候群","Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.",,"(AAA) AAAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8086"">8086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14320"">K14320</a>]
 (AAMR) GMPPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29926"">29926</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>] [<a href=""http://www.kegg.jp/dbget-bin/www_bget?ko:K00966]"">K00966]</a>",,,,,,"ICD-11: 5A74.Y
 ICD-10: E27.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536008"">C536008</a>
 OMIM: <a href=""https://www.omim.org/entry/231550"">231550</a> <a href=""https://www.omim.org/entry/615510"">615510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18426811"">18426811</a>
 著者        Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL
 タイトル      Heterogeneity in the molecular basis of ACTH resistance syndrome.
 雑誌        Eur J Endocrinol 159:61-8 (2008)
 DOI:<a href=""https://doi.org/10.1530/EJE-08-0079"">10.1530/EJE-08-0079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16938764"">16938764</a>
 著者        Ismail EA, Tulliot-Pelet A, Mohsen AM, Al-Saleh Q
 タイトル      Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.
 雑誌        Acta Paediatr 95:1140-3 (2006)
 DOI:<a href=""https://doi.org/10.1080/08035250500538999"">10.1080/08035250500538999</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15217518"">15217518</a>
 著者        Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA
 タイトル      Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
 雑誌        BMC Ophthalmol 4:7 (2004)
 DOI:<a href=""https://doi.org/10.1186/1471-2415-4-7"">10.1186/1471-2415-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14621049"">14621049</a>
 著者        Bhargavan PV, Kumar KM, Rajendran VR, Fassaludeen AS
 タイトル      Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production.
 雑誌        J Assoc Physicians India 51:726-8 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24035193"">24035193</a>
 著者        Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nurnberg G, Thiele H, Altmuller J, Nurnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramswig J, Muhlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hubner CA
 タイトル      Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
 雑誌        Am J Hum Genet 93:727-34 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.002"">10.1016/j.ajhg.2013.08.002</a>"
H00258,"アルドステロン合成酵素欠損症;
 先天性副腎皮質酵素欠損症",,,"Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.",内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,CYP11B2 [HSA:1585] [KO:K07433],,,,,,"ICD-11: 5A73
 ICD-10: E27.4 I15.2
 OMIM: 203400 610600","PMID:15134805
 著者        White PC
 タイトル      Aldosterone synthase deficiency and related disorders.
 雑誌        Mol Cell Endocrinol 217:81-7 (2004)
 DOI:10.1016/j.mce.2003.10.013
 PMID:11174838
 著者        Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
 タイトル      Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
 雑誌        Eur J Endocrinol 144:59-62 (2001)
 DOI:10.1530/eje.0.1440059
 PMID:10559665
 著者        Peter M, Dubuis JM, Sippell WG
 タイトル      Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
 雑誌        Horm Res 51:211-22 (1999)
 DOI:10.1159/000023374","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00258"">H00258</a>","アルドステロン合成酵素欠損症;
 先天性副腎皮質酵素欠損症","Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","CYP11B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1585"">1585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07433"">K07433</a>]",,,,,,"ICD-11: 5A73
 ICD-10: E27.4 I15.2
 OMIM: <a href=""https://www.omim.org/entry/203400"">203400</a> <a href=""https://www.omim.org/entry/610600"">610600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15134805"">15134805</a>
 著者        White PC
 タイトル      Aldosterone synthase deficiency and related disorders.
 雑誌        Mol Cell Endocrinol 217:81-7 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2003.10.013"">10.1016/j.mce.2003.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11174838"">11174838</a>
 著者        Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
 タイトル      Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
 雑誌        Eur J Endocrinol 144:59-62 (2001)
 DOI:<a href=""https://doi.org/10.1530/eje.0.1440059"">10.1530/eje.0.1440059</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10559665"">10559665</a>
 著者        Peter M, Dubuis JM, Sippell WG
 タイトル      Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
 雑誌        Horm Res 51:211-22 (1999)
 DOI:<a href=""https://doi.org/10.1159/000023374"">10.1159/000023374</a>"
H00259,"AME 症候群;
 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症",,,"Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone.",内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,HSD11B2 [HSA:3291] [KO:K00071],,,,,,"ICD-11: 5A72.1
 ICD-10: E26.1
 MeSH: D043204
 OMIM: 218030","PMID:16980198
 著者        Hammer F, Stewart PM
 タイトル      Cortisol metabolism in hypertension.
 雑誌        Best Pract Res Clin Endocrinol Metab 20:337-53 (2006)
 DOI:10.1016/j.beem.2006.07.001
 PMID:15761540
 著者        Palermo M, Quinkler M, Stewart PM
 タイトル      Apparent mineralocorticoid excess syndrome: an overview.
 雑誌        Arq Bras Endocrinol Metabol 48:687-96 (2004)
 DOI:10.1590/S0004-27302004000500015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00259"">H00259</a>","AME 症候群;
 11β-ヒドロキシステロイドデヒドロゲナーゼ欠損症","Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone.","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","HSD11B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3291"">3291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00071"">K00071</a>]",,,,,,"ICD-11: 5A72.1
 ICD-10: E26.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D043204"">D043204</a>
 OMIM: <a href=""https://www.omim.org/entry/218030"">218030</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16980198"">16980198</a>
 著者        Hammer F, Stewart PM
 タイトル      Cortisol metabolism in hypertension.
 雑誌        Best Pract Res Clin Endocrinol Metab 20:337-53 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2006.07.001"">10.1016/j.beem.2006.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15761540"">15761540</a>
 著者        Palermo M, Quinkler M, Stewart PM
 タイトル      Apparent mineralocorticoid excess syndrome: an overview.
 雑誌        Arq Bras Endocrinol Metabol 48:687-96 (2004)
 DOI:<a href=""https://doi.org/10.1590/S0004-27302004000500015"">10.1590/S0004-27302004000500015</a>"
H00260,"原発性色素性副腎皮質結節性異形成
 上位グループ    クッシング症候群 [DS:H01431]",,,Primary pigmented micronodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in endogenous Cushing's syndrome.,内分泌系疾患,nt06310  CRH-ACTH-cortisol signaling,"(PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
 (PPNAD2) PDE11A [HSA:50940] [KO:K13298]
 (PPNAD3) PDE8B [HSA:8622] [KO:K18437]",,,,,,"ICD-11: 5A70.Y
 ICD-10: E27.5
 MeSH: C566469 C566472
 OMIM: 610489 610475 603390","PMID:18549891
 著者        Powell AC, Stratakis CA, Patronas NJ, Steinberg SM, Batista D, Alexander HR, Pingpank JF, Keil M, Bartlett DL, Libutti SK
 タイトル      Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia.
 雑誌        Surgery 143:750-8 (2008)
 DOI:10.1016/j.surg.2008.03.022
 PMID:18493137
 著者        Stratakis CA
 タイトル      Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome).
 雑誌        Endocr Dev 13:117-32 (2008)
 DOI:10.1159/000134829
 PMID:12119280
 著者        Bourdeau I, Stratakis CA
 タイトル      Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease.
 雑誌        Ann N Y Acad Sci 968:240-55 (2002)
 DOI:10.1111/j.1749-6632.2002.tb04339.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00260"">H00260</a>","原発性色素性副腎皮質結節性異形成
 上位グループ    クッシング症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a>]",Primary pigmented micronodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in endogenous Cushing's syndrome.,"<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","(PPNAD1) PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]
 (PPNAD2) PDE11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50940"">50940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13298"">K13298</a>]
 (PPNAD3) PDE8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8622"">8622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18437"">K18437</a>]",,,,,,"ICD-11: 5A70.Y
 ICD-10: E27.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566469"">C566469</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566472"">C566472</a>
 OMIM: <a href=""https://www.omim.org/entry/610489"">610489</a> <a href=""https://www.omim.org/entry/610475"">610475</a> <a href=""https://www.omim.org/entry/603390"">603390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18549891"">18549891</a>
 著者        Powell AC, Stratakis CA, Patronas NJ, Steinberg SM, Batista D, Alexander HR, Pingpank JF, Keil M, Bartlett DL, Libutti SK
 タイトル      Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia.
 雑誌        Surgery 143:750-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.surg.2008.03.022"">10.1016/j.surg.2008.03.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18493137"">18493137</a>
 著者        Stratakis CA
 タイトル      Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome).
 雑誌        Endocr Dev 13:117-32 (2008)
 DOI:<a href=""https://doi.org/10.1159/000134829"">10.1159/000134829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12119280"">12119280</a>
 著者        Bourdeau I, Stratakis CA
 タイトル      Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease.
 雑誌        Ann N Y Acad Sci 968:240-55 (2002)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2002.tb04339.x"">10.1111/j.1749-6632.2002.tb04339.x</a>"
H00261,"メッケル症候群;
 メッケル・グルーバー症候群",,,"Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet.",先天奇形,,"(MKS1) MKS1 [HSA:54903] [KO:K19332]
 (MKS2) TMEM216 [HSA:51259] [KO:K19385]
 (MKS3) TMEM67 [HSA:91147] [KO:K19348]
 (MKS4) CEP290 [HSA:80184] [KO:K16533]
 (MKS5) RPGRIP1L [HSA:23322] [KO:K16550]
 (MKS6) CC2D2A [HSA:57545] [KO:K19352]
 (MKS7) NPHP3 [HSA:27031] [KO:K19360]
 (MKS8) TCTN2 [HSA:79867] [KO:K19361]
 (MKS9) B9D1 [HSA:27077] [KO:K16744]
 (MKS10) B9D2 [HSA:80776] [KO:K16745]
 (MKS11) TMEM231 [HSA:79583] [KO:K19362]
 (MKS12) KIF14 [HSA:9928] [KO:K17915]
 (MKS13) TMEM107 [HSA:84314] [KO:K22764]",,,,,,"ICD-11: LD2F.13
 ICD-10: Q61.9
 MeSH: C536133 C536131 C536132
 OMIM: 249000 603194 607361 611134 611561 612284 267010 613885 614209 614175 615397 616258 617562","PMID:17389183
 著者        Chen CP
 タイトル      Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
 雑誌        Taiwan J Obstet Gynecol 46:9-14 (2007)
 DOI:10.1016/S1028-4559(08)60100-X
 PMID:16879033
 著者        Alexiev BA, Lin X, Sun CC, Brenner DS
 タイトル      Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.
 雑誌        Arch Pathol Lab Med 130:1236-8 (2006)
 DOI:10.1043/1543-2165(2006)130[1236:MS]2.0.CO;2
 PMID:9643292
 著者        Salonen R, Paavola P
 タイトル      Meckel syndrome.
 雑誌        J Med Genet 35:497-501 (1998)
 DOI:10.1136/jmg.35.6.497
 PMID:21898032
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:10.1007/s00431-011-1553-z
 PMID:18371931
 著者        Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H
 タイトル      Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
 雑誌        Am J Hum Genet 82:959-70 (2008)
 DOI:10.1016/j.ajhg.2008.02.017
 PMID:21462283
 著者        Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS
 タイトル      A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
 雑誌        Hum Mutat 32:573-8 (2011)
 DOI:10.1002/humu.21507
 PMID:21763481
 著者        Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM, Katsanis N, Bergmann C, Reiter JF
 タイトル      Disruption of a ciliary B9 protein complex causes Meckel syndrome.
 雑誌        Am J Hum Genet 89:94-110 (2011)
 DOI:10.1016/j.ajhg.2011.06.003
 PMID:23349226
 著者        Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS
 タイトル      Mutations in TMEM231 cause Meckel-Gruber syndrome.
 雑誌        J Med Genet 50:160-2 (2013)
 DOI:10.1136/jmedgenet-2012-101431
 PMID:20512146
 著者        Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attie-Bitach T, Gleeson JG
 タイトル      Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
 雑誌        Nat Genet 42:619-25 (2010)
 DOI:10.1038/ng.594
 PMID:24128419
 著者        Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Rothlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM
 タイトル      Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
 雑誌        Clin Genet 86:220-8 (2014)
 DOI:10.1111/cge.12301
 PMID:26595381
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:10.1038/ncb3273","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00261"">H00261</a>","メッケル症候群;
 メッケル・グルーバー症候群","Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet.",,"(MKS1) MKS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54903"">54903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19332"">K19332</a>]
 (MKS2) TMEM216 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51259"">51259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19385"">K19385</a>]
 (MKS3) TMEM67 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91147"">91147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19348"">K19348</a>]
 (MKS4) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (MKS5) RPGRIP1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23322"">23322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16550"">K16550</a>]
 (MKS6) CC2D2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57545"">57545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19352"">K19352</a>]
 (MKS7) NPHP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27031"">27031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19360"">K19360</a>]
 (MKS8) TCTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79867"">79867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19361"">K19361</a>]
 (MKS9) B9D1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27077"">27077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16744"">K16744</a>]
 (MKS10) B9D2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80776"">80776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16745"">K16745</a>]
 (MKS11) TMEM231 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79583"">79583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19362"">K19362</a>]
 (MKS12) KIF14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9928"">9928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17915"">K17915</a>]
 (MKS13) TMEM107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84314"">84314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22764"">K22764</a>]",,,,,,"ICD-11: LD2F.13
 ICD-10: Q61.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536133"">C536133</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536131"">C536131</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536132"">C536132</a>
 OMIM: <a href=""https://www.omim.org/entry/249000"">249000</a> <a href=""https://www.omim.org/entry/603194"">603194</a> <a href=""https://www.omim.org/entry/607361"">607361</a> <a href=""https://www.omim.org/entry/611134"">611134</a> <a href=""https://www.omim.org/entry/611561"">611561</a> <a href=""https://www.omim.org/entry/612284"">612284</a> <a href=""https://www.omim.org/entry/267010"">267010</a> <a href=""https://www.omim.org/entry/613885"">613885</a> <a href=""https://www.omim.org/entry/614209"">614209</a> <a href=""https://www.omim.org/entry/614175"">614175</a> <a href=""https://www.omim.org/entry/615397"">615397</a> <a href=""https://www.omim.org/entry/616258"">616258</a> <a href=""https://www.omim.org/entry/617562"">617562</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17389183"">17389183</a>
 著者        Chen CP
 タイトル      Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
 雑誌        Taiwan J Obstet Gynecol 46:9-14 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1028-4559(08)60100-X"">10.1016/S1028-4559(08)60100-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16879033"">16879033</a>
 著者        Alexiev BA, Lin X, Sun CC, Brenner DS
 タイトル      Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.
 雑誌        Arch Pathol Lab Med 130:1236-8 (2006)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2006)130[1236:"">10.1043/1543-2165(2006)130[1236:</a><a href=""https://doi.org/MS]2.0.CO;2"">MS]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9643292"">9643292</a>
 著者        Salonen R, Paavola P
 タイトル      Meckel syndrome.
 雑誌        J Med Genet 35:497-501 (1998)
 DOI:<a href=""https://doi.org/10.1136/jmg.35.6.497"">10.1136/jmg.35.6.497</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21898032"">21898032</a>
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1553-z"">10.1007/s00431-011-1553-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18371931"">18371931</a>
 著者        Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H
 タイトル      Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
 雑誌        Am J Hum Genet 82:959-70 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.02.017"">10.1016/j.ajhg.2008.02.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21462283"">21462283</a>
 著者        Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS
 タイトル      A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
 雑誌        Hum Mutat 32:573-8 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21507"">10.1002/humu.21507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21763481"">21763481</a>
 著者        Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM, Katsanis N, Bergmann C, Reiter JF
 タイトル      Disruption of a ciliary B9 protein complex causes Meckel syndrome.
 雑誌        Am J Hum Genet 89:94-110 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.003"">10.1016/j.ajhg.2011.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23349226"">23349226</a>
 著者        Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS
 タイトル      Mutations in TMEM231 cause Meckel-Gruber syndrome.
 雑誌        J Med Genet 50:160-2 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101431"">10.1136/jmedgenet-2012-101431</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20512146"">20512146</a>
 著者        Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attie-Bitach T, Gleeson JG
 タイトル      Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
 雑誌        Nat Genet 42:619-25 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.594"">10.1038/ng.594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24128419"">24128419</a>
 著者        Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Rothlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM
 タイトル      Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
 雑誌        Clin Genet 86:220-8 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12301"">10.1111/cge.12301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26595381"">26595381</a>
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncb3273"">10.1038/ncb3273</a>"
H00262,"葉酸感受性神経管欠損症
 下位グループ    葉酸感受性二分脊椎症
 上位グループ    神経管欠損症 [DS:H02563]",,,Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status is a significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs.,先天奇形,,"MTHFR [HSA:4524] [KO:K25004]
 MTR [HSA:4548] [KO:K00548]
 MTRR [HSA:4552] [KO:K00597]
 MTHFD1 [HSA:4522] [KO:K00288]",,,,,,"ICD-11: LA02
 ICD-10: Q05
 MeSH: D016135
 OMIM: 601634","PMID:17963270
 著者        Beaudin AE, Stover PJ
 タイトル      Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression.
 雑誌        Birth Defects Res C Embryo Today 81:183-203 (2007)
 DOI:10.1002/bdrc.20100
 PMID:19120526 (MTHFR)
 著者        Kondo A, Kamihira O, Ozawa H
 タイトル      Neural tube defects: prevalence, etiology and prevention.
 雑誌        Int J Urol 16:49-57 (2009)
 DOI:10.1111/j.1442-2042.2008.02163.x
 PMID:12375236 (MTR, MTRR)
 著者        Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE
 タイトル      Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
 雑誌        Am J Hum Genet 71:1222-6 (2002)
 DOI:10.1086/344209
 PMID:16315005 (MTHFD1)
 著者        De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
 タイトル      Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
 雑誌        J Hum Genet 51:98-103 (2006)
 DOI:10.1007/s10038-005-0329-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00262"">H00262</a>","葉酸感受性神経管欠損症
 下位グループ    葉酸感受性二分脊椎症
 上位グループ    神経管欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02563"">H02563</a>]",Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status is a significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs.,,"MTHFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4524"">4524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25004"">K25004</a>]
 MTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4548"">4548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00548"">K00548</a>]
 MTRR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4552"">4552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00597"">K00597</a>]
 MTHFD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4522"">4522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00288"">K00288</a>]",,,,,,"ICD-11: LA02
 ICD-10: Q05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016135"">D016135</a>
 OMIM: <a href=""https://www.omim.org/entry/601634"">601634</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17963270"">17963270</a>
 著者        Beaudin AE, Stover PJ
 タイトル      Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression.
 雑誌        Birth Defects Res C Embryo Today 81:183-203 (2007)
 DOI:<a href=""https://doi.org/10.1002/bdrc.20100"">10.1002/bdrc.20100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19120526"">19120526</a> (MTHFR)
 著者        Kondo A, Kamihira O, Ozawa H
 タイトル      Neural tube defects: prevalence, etiology and prevention.
 雑誌        Int J Urol 16:49-57 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1442-2042.2008.02163.x"">10.1111/j.1442-2042.2008.02163.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12375236"">12375236</a> (MTR, <a href=""https://pubmed.ncbi.nlm.nih.gov/MTRR)"">MTRR)</a>
 著者        Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE
 タイトル      Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
 雑誌        Am J Hum Genet 71:1222-6 (2002)
 DOI:<a href=""https://doi.org/10.1086/344209"">10.1086/344209</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16315005"">16315005</a> (MTHFD1)
 著者        De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
 タイトル      Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
 雑誌        J Hum Genet 51:98-103 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10038-005-0329-6"">10.1007/s10038-005-0329-6</a>"
H00263,"先端脳梁症候群
 上位グループ    神経細胞移動異常症 [DS:H01835]",,,"Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation.",先天奇形,,KIF7 [HSA:374654] [KO:K18806],,,,,,"ICD-11: LA05.3
 ICD-10: Q04.0
 MeSH: D055673
 OMIM: 200990","PMID:21633164
 著者        Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
 タイトル      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
 雑誌        J Clin Invest 121:2662-7 (2011)
 DOI:10.1172/JCI43639
 PMID:29321670
 著者        Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A
 タイトル      Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
 雑誌        Eur J Hum Genet 26:197-209 (2018)
 DOI:10.1038/s41431-017-0019-9
 PMID:11857542
 著者        Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S
 タイトル      Spectrum of the acrocallosal syndrome.
 雑誌        Am J Med Genet 108:7-11 (2002)
 DOI:10.1002/ajmg.10236","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00263"">H00263</a>","先端脳梁症候群
 上位グループ    神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]","Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation.",,"KIF7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374654"">374654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18806"">K18806</a>]",,,,,,"ICD-11: LA05.3
 ICD-10: Q04.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055673"">D055673</a>
 OMIM: <a href=""https://www.omim.org/entry/200990"">200990</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21633164"">21633164</a>
 著者        Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
 タイトル      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
 雑誌        J Clin Invest 121:2662-7 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI43639"">10.1172/JCI43639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29321670"">29321670</a>
 著者        Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A
 タイトル      Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
 雑誌        Eur J Hum Genet 26:197-209 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0019-9"">10.1038/s41431-017-0019-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11857542"">11857542</a>
 著者        Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S
 タイトル      Spectrum of the acrocallosal syndrome.
 雑誌        Am J Med Genet 108:7-11 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10236"">10.1002/ajmg.10236</a>"
H00264,"シャルコー・マリー・トゥース病;
 遺伝性運動感覚ニューロパチー
 下位グループ    腓骨筋萎縮症
 Dejerine-Sottas 病 [DS:H02359]
 Cowchock 症候群 [DS:H02344]",,,"Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis.",神経変性疾患,,"(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
 (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
 (CMT1C) LITAF [HSA:9516] [KO:K19363]
 (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
 (CMT1F/2E) NEFL [HSA:4747] [KO:K04572]
 (CMT1G) PMP2 [HSA:5375] [KO:K24977]
 (CMT2A1) KIF1B [HSA:23095] [KO:K10392]
 (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
 (CMT2B) RAB7A [HSA:7879] [KO:K07897]
 (CMT2B1) LMNA [HSA:4000] [KO:K12641]
 (CMT2B2) 	PNKP [HSA:11284] [KO:K08073]
 (CMT2C) TRPV4 [HSA:59341] [KO:K04973]
 (CMT2CC) NEFH [HSA:4744] [KO:K04574]
 (CMT2D) GARS [HSA:2617] [KO:K01880]
 (CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
 (CMT2EE) MPV17 [HSA:4358] [KO:K13348]
 (CMT2F) HSPB1 [HSA:3315] [KO:K04455]
 (CMT2FF) CADM3 [HSA:57863] [KO:K06780]
 (CMT2GG) GBF1 [HSA:8729] [KO:K18443]
 (CMT2HH) JAG1 [HSA:182] [KO:K06052]
 (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
 (CMT2K) JPH1 [HSA:56704] [KO:K19530]
 (CMT2L) HSPB8 [HSA:26353] [KO:K08879]
 (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
 (CMT2N) AARS [HSA:16] [KO:K01872]
 (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
 (CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
 (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
 (CMT2R) TRIM2 [HSA:23321] [KO:K11997]
 (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
 (CMT2T) MME [HSA:4311] [KO:K01389]
 (CMT2U) MARS [HSA:4141] [KO:K01874]
 (CMT2W) HARS [HSA:3035] [KO:K01892]
 (CMT2Y) VCP [HSA:7415] [KO:K13525]
 (CMT2Z) MORC2 [HSA:22880] [KO:K24135]
 (CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
 (CMT4B2) SBF2 [HSA:81846] [KO:K18061]
 (CMT4B3) SBF1 [HSA:6305] [KO:K18061]
 (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
 (CMT4D) NDRG1 [HSA:10397] [KO:K18266]
 (CMT4F) PRX [HSA:57716]
 (CMT4H) FGD4 [HSA:121512] [KO:K05723]
 (CMT4J) FIG4 [HSA:9896] [KO:K22913]
 (CMT4K) SURF1 [HSA:6834] [KO:K14998]
 (CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
 (CMT6C) PDXK [HSA:8566] [KO:K00868]
 (CMTX1) GJB1 [HSA:2705] [KO:K07620]
 (CMTX5) PRPS1 [HSA:5631] [KO:K00948]
 (CMTX6) PDK3 [HSA:5165] [KO:K00898]
 (CMTDIC) YARS [HSA:8565] [KO:K01866]
 (CMTDIE) INF2 [HSA:64423] [KO:K23958]
 (CMTDIF) GNB4 [HSA:59345] [KO:K04538]
 (CMTRIB) KARS [HSA:3735] [KO:K04567]
 (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
 (CMTRID) COX6A1 [HSA:1337] [KO:K02266]",,,,,"CMT1: Abnormal myelin, autosomal dominant
 CMT2: Axonopathy, autosomal dominant
 Intermediate form: Combination of myelinopathy and axonopathy in individual, autosomal dominant
 CMT4: Either myelinopathy or axonopathy, autosomal recessive
 CMTX: Axonopathy with secondary myelin changes, X-linked dominant
 MNMN: Mononeuropathy of the median nerve mild","ICD-11: 8C20.0 8C20.1 8C20.2
 ICD-10: G60.0
 MeSH: D002607
 OMIM: 118200 118210 118220 118300 145900 214400 302800 311070 607678 607734 618279 600882 601098 601382 601472 601455 605253 601596 603623 604563 605588 605589 606071 606482 606483 606595 607677 607684 607706 607736 607791 607831 616505 608323 608340 608673 609260 609311 611228 613287 614228 614436 615025 615490 613641 601152 613353 616155 617017 616280 616625 616687 616688 607706 614455 615185 615376 616039 615284 616684 300905 616924 618036 618400 619519 619574 618511","PMID:15518599
 著者        Bertorini T, Narayanaswami P, Rashed H
 タイトル      Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.
 雑誌        Neurologist 10:327-37 (2004)
 DOI:10.1097/01.nrl.0000145596.38640.27
 PMID:20301532
 著者        Bird TD
 タイトル      Charcot-Marie-Tooth Hereditary Neuropathy Overview
 雑誌        GeneReviews (1993)
 PMID:14685682 (PMP22, MPZ, LITAF, EGR2, GJB1, GDAP1, MTMR2, SBF2, NDRG1, PRX, KIF1B, RAB7A, LMNA, NEFL)
 著者        Young P, Suter U
 タイトル      The causes of Charcot-Marie-Tooth disease.
 雑誌        Cell Mol Life Sci 60:2547-60 (2003)
 DOI:10.1007/s00018-003-3133-5
 PMID:16775378 (MFN2, HSPB1, HSPB8, GARS, DNM2)
 著者        Niemann A, Berger P, Suter U
 タイトル      Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
 雑誌        Neuromolecular Med 8:217-42 (2006)
 DOI:10.1385/NMM:8:1:217
 PMID:30643024 (GARS, YARS, AARS, HARS, MARS)
 著者        Wei N, Zhang Q, Yang XL
 タイトル      Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
 雑誌        J Biol Chem 294:5321-5339 (2019)
 DOI:10.1074/jbc.REV118.002955
 PMID:29499166 (ATP1A1)
 著者        Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S
 タイトル      Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
 雑誌        Am J Hum Genet 102:505-514 (2018)
 DOI:10.1016/j.ajhg.2018.01.023
 PMID:22508010 (MPV17)
 著者        Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW
 タイトル      MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
 雑誌        Neuromuscul Disord 22:587-91 (2012)
 DOI:10.1016/j.nmd.2012.03.006
 PMID:33889941 (CADM3)
 著者        Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S
 タイトル      A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
 雑誌        Brain 144:1197-1213 (2021)
 DOI:10.1093/brain/awab019
 PMID:32937143 (GBF1)
 著者        Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B
 タイトル      De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
 雑誌        Am J Hum Genet 107:763-777 (2020)
 DOI:10.1016/j.ajhg.2020.08.018
 PMID:32065591 (JAG1)
 著者        Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ
 タイトル      Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
 雑誌        J Clin Invest 130:1506-1512 (2020)
 DOI:10.1172/JCI128152
 PMID:20220177 (SH3TC2)
 著者        Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA
 タイトル      Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
 雑誌        N Engl J Med 362:1181-91 (2010)
 DOI:10.1056/NEJMoa0908094
 PMID:21820100 (DYNC1H1)
 著者        Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S
 タイトル      Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 89:308-12 (2011)
 DOI:10.1016/j.ajhg.2011.07.002
 PMID:20865121 (LRSAM1)
 著者        Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME
 タイトル      Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
 雑誌        PLoS Genet 6:e1001081 (2010)
 DOI:10.1371/journal.pgen.1001081
 PMID:23141294 (DHTKD1)
 著者        Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG
 タイトル      A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
 雑誌        Am J Hum Genet 91:1088-94 (2012)
 DOI:10.1016/j.ajhg.2012.09.018
 PMID:23562820 (TRIM2)
 著者        Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H
 タイトル      Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
 雑誌        Hum Mol Genet 22:2975-83 (2013)
 DOI:10.1093/hmg/ddt149
 PMID:25439726 (IGHMBP2)
 著者        Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzinska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H
 タイトル      Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
 雑誌        Am J Hum Genet 95:590-601 (2014)
 DOI:10.1016/j.ajhg.2014.10.002
 PMID:26991897 (MME)
 著者        Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H
 タイトル      Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
 雑誌        Ann Neurol 79:659-72 (2016)
 DOI:10.1002/ana.24612
 PMID:23729695 (MARS)
 著者        Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S
 タイトル      Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
 雑誌        J Neurol Neurosurg Psychiatry 84:1247-9 (2013)
 DOI:10.1136/jnnp-2013-305049
 PMID:25125609 (VCP)
 著者        Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME
 タイトル      A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
 雑誌        Brain 137:2897-902 (2014)
 DOI:10.1093/brain/awu224
 PMID:26659848 (MORC2)
 著者        Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA
 タイトル      MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
 雑誌        Ann Neurol 79:419-27 (2016)
 DOI:10.1002/ana.24575
 PMID:24799518 (SBF1)
 著者        Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS
 タイトル      SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.
 雑誌        Neurology 82:1665-6 (2014)
 DOI:10.1212/WNL.0000000000000331
 PMID:21655088 (FIG4)
 著者        Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH
 タイトル      Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
 雑誌        PLoS Genet 7:e1002104 (2011)
 DOI:10.1371/journal.pgen.1002104
 PMID:24027061 (SURF1)
 著者        Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B
 タイトル      SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
 雑誌        Neurology 81:1523-30 (2013)
 DOI:10.1212/WNL.0b013e3182a4a518
 PMID:27390132 (SLC25A46)
 著者        Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA
 タイトル      SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
 雑誌        EMBO Mol Med 8:1019-38 (2016)
 DOI:10.15252/emmm.201506159
 PMID:31187503 (PDXK)
 著者        Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botia JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H
 タイトル      PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
 雑誌        Ann Neurol 86:225-240 (2019)
 DOI:10.1002/ana.25524
 PMID:23297365 (PDK3)
 著者        Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA
 タイトル      A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
 雑誌        Hum Mol Genet 22:1404-16 (2013)
 DOI:10.1093/hmg/dds557
 PMID:22187985 (INF2)
 著者        Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tete MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G
 タイトル      INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
 雑誌        N Engl J Med 365:2377-88 (2011)
 DOI:10.1056/NEJMoa1109122
 PMID:23434117 (GNB4)
 著者        Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC
 タイトル      Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 92:422-30 (2013)
 DOI:10.1016/j.ajhg.2013.01.014
 PMID:23777631 (PLEKHG5)
 著者        Azzedine H, Zavadakova P, Plante-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Medard JJ, Makowski E, Schols L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
 タイトル      PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
 雑誌        Hum Mol Genet 22:4224-32 (2013)
 DOI:10.1093/hmg/ddt274
 PMID:25152455 (COX6A1)
 著者        Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K
 タイトル      A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 95:294-300 (2014)
 DOI:10.1016/j.ajhg.2014.07.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>","シャルコー・マリー・トゥース病;
 遺伝性運動感覚ニューロパチー
 下位グループ    腓骨筋萎縮症
 Dejerine-Sottas 病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02359"">H02359</a>]
 Cowchock 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02344"">H02344</a>]","Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis.",,"(CMT1A/1E) PMP22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5376"">5376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19289"">K19289</a>]
 (CMT1B/2I/2J/4E) MPZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4359"">4359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06770"">K06770</a>]
 (CMT1C) LITAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9516"">9516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19363"">K19363</a>]
 (CMT1D/4E) EGR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1959"">1959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12496"">K12496</a>]
 (CMT1F/2E) NEFL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4747"">4747</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04572"">K04572</a>]
 (CMT1G) PMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5375"">5375</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24977"">K24977</a>]
 (CMT2A1) KIF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23095"">23095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (CMT2A2/6) MFN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9927"">9927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06030"">K06030</a>]
 (CMT2B) RAB7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7879"">7879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07897"">K07897</a>]
 (CMT2B1) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (CMT2B2) 	PNKP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11284"">11284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08073"">K08073</a>]
 (CMT2C) TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]
 (CMT2CC) NEFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4744"">4744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04574"">K04574</a>]
 (CMT2D) GARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2617"">2617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01880"">K01880</a>]
 (CMT2DD) ATP1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:476"">476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 (CMT2EE) MPV17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4358"">4358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13348"">K13348</a>]
 (CMT2F) HSPB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3315"">3315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04455"">K04455</a>]
 (CMT2FF) CADM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57863"">57863</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06780"">K06780</a>]
 (CMT2GG) GBF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8729"">8729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18443"">K18443</a>]
 (CMT2HH) JAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:182"">182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06052"">K06052</a>]
 (CMT2K/4A/RIA) GDAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54332"">54332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22077"">K22077</a>]
 (CMT2K) JPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56704"">56704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19530"">K19530</a>]
 (CMT2L) HSPB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26353"">26353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08879"">K08879</a>]
 (CMT2M/DIB) DNM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1785"">1785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23484"">K23484</a>]
 (CMT2N) AARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:16"">16</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]
 (CMT2O) DYNC1H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1778"">1778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10413"">K10413</a>]
 (CMT2P) LRSAM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90678"">90678</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10641"">K10641</a>]
 (CMT2Q) DHTKD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55526"">55526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15791"">K15791</a>]
 (CMT2R) TRIM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23321"">23321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11997"">K11997</a>]
 (CMT2S) IGHMBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3508"">3508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19036"">K19036</a>]
 (CMT2T) MME [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4311"">4311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01389"">K01389</a>]
 (CMT2U) MARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4141"">4141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01874"">K01874</a>]
 (CMT2W) HARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3035"">3035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01892"">K01892</a>]
 (CMT2Y) VCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7415"">7415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13525"">K13525</a>]
 (CMT2Z) MORC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22880"">22880</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24135"">K24135</a>]
 (CMT4B1) MTMR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8898"">8898</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18081"">K18081</a>]
 (CMT4B2) SBF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81846"">81846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18061"">K18061</a>]
 (CMT4B3) SBF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6305"">6305</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18061"">K18061</a>]
 (CMT4C/MNMN) SH3TC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79628"">79628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24313"">K24313</a>]
 (CMT4D) NDRG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10397"">10397</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18266"">K18266</a>]
 (CMT4F) PRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57716"">57716</a>]
 (CMT4H) FGD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121512"">121512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05723"">K05723</a>]
 (CMT4J) FIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9896"">9896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22913"">K22913</a>]
 (CMT4K) SURF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6834"">6834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14998"">K14998</a>]
 (CMT6B) SLC25A46 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91137"">91137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03454"">K03454</a>]
 (CMT6C) PDXK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8566"">8566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00868"">K00868</a>]
 (CMTX1) GJB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2705"">2705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07620"">K07620</a>]
 (CMTX5) PRPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5631"">5631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00948"">K00948</a>]
 (CMTX6) PDK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5165"">5165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00898"">K00898</a>]
 (CMTDIC) YARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8565"">8565</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01866"">K01866</a>]
 (CMTDIE) INF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64423"">64423</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23958"">K23958</a>]
 (CMTDIF) GNB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59345"">59345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04538"">K04538</a>]
 (CMTRIB) KARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3735"">3735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04567"">K04567</a>]
 (CMTRIC) PLEKHG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57449"">57449</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19464"">K19464</a>]
 (CMTRID) COX6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1337"">1337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02266"">K02266</a>]",,,,,"CMT1: Abnormal myelin, autosomal dominant
 CMT2: Axonopathy, autosomal dominant
 Intermediate form: Combination of myelinopathy and axonopathy in individual, autosomal dominant
 CMT4: Either myelinopathy or axonopathy, autosomal recessive
 CMTX: Axonopathy with secondary myelin changes, X-linked dominant
 MNMN: Mononeuropathy of the median nerve mild","ICD-11: 8C20.0 8C20.1 8C20.2
 ICD-10: G60.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002607"">D002607</a>
 OMIM: <a href=""https://www.omim.org/entry/118200"">118200</a> <a href=""https://www.omim.org/entry/118210"">118210</a> <a href=""https://www.omim.org/entry/118220"">118220</a> <a href=""https://www.omim.org/entry/118300"">118300</a> <a href=""https://www.omim.org/entry/145900"">145900</a> <a href=""https://www.omim.org/entry/214400"">214400</a> <a href=""https://www.omim.org/entry/302800"">302800</a> <a href=""https://www.omim.org/entry/311070"">311070</a> <a href=""https://www.omim.org/entry/607678"">607678</a> <a href=""https://www.omim.org/entry/607734"">607734</a> <a href=""https://www.omim.org/entry/618279"">618279</a> <a href=""https://www.omim.org/entry/600882"">600882</a> <a href=""https://www.omim.org/entry/601098"">601098</a> <a href=""https://www.omim.org/entry/601382"">601382</a> <a href=""https://www.omim.org/entry/601472"">601472</a> <a href=""https://www.omim.org/entry/601455"">601455</a> <a href=""https://www.omim.org/entry/605253"">605253</a> <a href=""https://www.omim.org/entry/601596"">601596</a> <a href=""https://www.omim.org/entry/603623"">603623</a> <a href=""https://www.omim.org/entry/604563"">604563</a> <a href=""https://www.omim.org/entry/605588"">605588</a> <a href=""https://www.omim.org/entry/605589"">605589</a> <a href=""https://www.omim.org/entry/606071"">606071</a> <a href=""https://www.omim.org/entry/606482"">606482</a> <a href=""https://www.omim.org/entry/606483"">606483</a> <a href=""https://www.omim.org/entry/606595"">606595</a> <a href=""https://www.omim.org/entry/607677"">607677</a> <a href=""https://www.omim.org/entry/607684"">607684</a> <a href=""https://www.omim.org/entry/607706"">607706</a> <a href=""https://www.omim.org/entry/607736"">607736</a> <a href=""https://www.omim.org/entry/607791"">607791</a> <a href=""https://www.omim.org/entry/607831"">607831</a> <a href=""https://www.omim.org/entry/616505"">616505</a> <a href=""https://www.omim.org/entry/608323"">608323</a> <a href=""https://www.omim.org/entry/608340"">608340</a> <a href=""https://www.omim.org/entry/608673"">608673</a> <a href=""https://www.omim.org/entry/609260"">609260</a> <a href=""https://www.omim.org/entry/609311"">609311</a> <a href=""https://www.omim.org/entry/611228"">611228</a> <a href=""https://www.omim.org/entry/613287"">613287</a> <a href=""https://www.omim.org/entry/614228"">614228</a> <a href=""https://www.omim.org/entry/614436"">614436</a> <a href=""https://www.omim.org/entry/615025"">615025</a> <a href=""https://www.omim.org/entry/615490"">615490</a> <a href=""https://www.omim.org/entry/613641"">613641</a> <a href=""https://www.omim.org/entry/601152"">601152</a> <a href=""https://www.omim.org/entry/613353"">613353</a> <a href=""https://www.omim.org/entry/616155"">616155</a> <a href=""https://www.omim.org/entry/617017"">617017</a> <a href=""https://www.omim.org/entry/616280"">616280</a> <a href=""https://www.omim.org/entry/616625"">616625</a> <a href=""https://www.omim.org/entry/616687"">616687</a> <a href=""https://www.omim.org/entry/616688"">616688</a> <a href=""https://www.omim.org/entry/607706"">607706</a> <a href=""https://www.omim.org/entry/614455"">614455</a> <a href=""https://www.omim.org/entry/615185"">615185</a> <a href=""https://www.omim.org/entry/615376"">615376</a> <a href=""https://www.omim.org/entry/616039"">616039</a> <a href=""https://www.omim.org/entry/615284"">615284</a> <a href=""https://www.omim.org/entry/616684"">616684</a> <a href=""https://www.omim.org/entry/300905"">300905</a> <a href=""https://www.omim.org/entry/616924"">616924</a> <a href=""https://www.omim.org/entry/618036"">618036</a> <a href=""https://www.omim.org/entry/618400"">618400</a> <a href=""https://www.omim.org/entry/619519"">619519</a> <a href=""https://www.omim.org/entry/619574"">619574</a> <a href=""https://www.omim.org/entry/618511"">618511</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15518599"">15518599</a>
 著者        Bertorini T, Narayanaswami P, Rashed H
 タイトル      Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.
 雑誌        Neurologist 10:327-37 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.nrl.0000145596.38640.27"">10.1097/01.nrl.0000145596.38640.27</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301532"">20301532</a>
 著者        Bird TD
 タイトル      Charcot-Marie-Tooth Hereditary Neuropathy Overview
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14685682"">14685682</a> (PMP22, <a href=""https://pubmed.ncbi.nlm.nih.gov/MPZ,"">MPZ,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LITAF,"">LITAF,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/EGR2,"">EGR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GJB1,"">GJB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GDAP1,"">GDAP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MTMR2,"">MTMR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SBF2,"">SBF2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NDRG1,"">NDRG1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PRX,"">PRX,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/KIF1B,"">KIF1B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RAB7A,"">RAB7A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LMNA,"">LMNA,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NEFL)"">NEFL)</a>
 著者        Young P, Suter U
 タイトル      The causes of Charcot-Marie-Tooth disease.
 雑誌        Cell Mol Life Sci 60:2547-60 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00018-003-3133-5"">10.1007/s00018-003-3133-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16775378"">16775378</a> (MFN2, <a href=""https://pubmed.ncbi.nlm.nih.gov/HSPB1,"">HSPB1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HSPB8,"">HSPB8,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GARS,"">GARS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/DNM2)"">DNM2)</a>
 著者        Niemann A, Berger P, Suter U
 タイトル      Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
 雑誌        Neuromolecular Med 8:217-42 (2006)
 DOI:<a href=""https://doi.org/10.1385/NMM:"">10.1385/NMM:</a><a href=""https://doi.org/8:"">8:</a><a href=""https://doi.org/1:"">1:</a><a href=""https://doi.org/217"">217</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30643024"">30643024</a> (GARS, <a href=""https://pubmed.ncbi.nlm.nih.gov/YARS,"">YARS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/AARS,"">AARS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HARS,"">HARS,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MARS)"">MARS)</a>
 著者        Wei N, Zhang Q, Yang XL
 タイトル      Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
 雑誌        J Biol Chem 294:5321-5339 (2019)
 DOI:<a href=""https://doi.org/10.1074/jbc.REV118.002955"">10.1074/jbc.REV118.002955</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29499166"">29499166</a> (ATP1A1)
 著者        Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S
 タイトル      Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
 雑誌        Am J Hum Genet 102:505-514 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.01.023"">10.1016/j.ajhg.2018.01.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22508010"">22508010</a> (MPV17)
 著者        Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW
 タイトル      MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
 雑誌        Neuromuscul Disord 22:587-91 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2012.03.006"">10.1016/j.nmd.2012.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33889941"">33889941</a> (CADM3)
 著者        Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S
 タイトル      A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
 雑誌        Brain 144:1197-1213 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awab019"">10.1093/brain/awab019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32937143"">32937143</a> (GBF1)
 著者        Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B
 タイトル      De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
 雑誌        Am J Hum Genet 107:763-777 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.08.018"">10.1016/j.ajhg.2020.08.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32065591"">32065591</a> (JAG1)
 著者        Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ
 タイトル      Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
 雑誌        J Clin Invest 130:1506-1512 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI128152"">10.1172/JCI128152</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20220177"">20220177</a> (SH3TC2)
 著者        Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA
 タイトル      Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
 雑誌        N Engl J Med 362:1181-91 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0908094"">10.1056/NEJMoa0908094</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820100"">21820100</a> (DYNC1H1)
 著者        Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S
 タイトル      Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 89:308-12 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.002"">10.1016/j.ajhg.2011.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20865121"">20865121</a> (LRSAM1)
 著者        Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME
 タイトル      Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
 雑誌        PLoS Genet 6:e1001081 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1001081"">10.1371/journal.pgen.1001081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23141294"">23141294</a> (DHTKD1)
 著者        Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG
 タイトル      A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
 雑誌        Am J Hum Genet 91:1088-94 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.018"">10.1016/j.ajhg.2012.09.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23562820"">23562820</a> (TRIM2)
 著者        Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H
 タイトル      Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
 雑誌        Hum Mol Genet 22:2975-83 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt149"">10.1093/hmg/ddt149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25439726"">25439726</a> (IGHMBP2)
 著者        Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzinska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H
 タイトル      Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
 雑誌        Am J Hum Genet 95:590-601 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.002"">10.1016/j.ajhg.2014.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26991897"">26991897</a> (MME)
 著者        Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H
 タイトル      Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
 雑誌        Ann Neurol 79:659-72 (2016)
 DOI:<a href=""https://doi.org/10.1002/ana.24612"">10.1002/ana.24612</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23729695"">23729695</a> (MARS)
 著者        Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S
 タイトル      Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
 雑誌        J Neurol Neurosurg Psychiatry 84:1247-9 (2013)
 DOI:<a href=""https://doi.org/10.1136/jnnp-2013-305049"">10.1136/jnnp-2013-305049</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25125609"">25125609</a> (VCP)
 著者        Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME
 タイトル      A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
 雑誌        Brain 137:2897-902 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awu224"">10.1093/brain/awu224</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26659848"">26659848</a> (MORC2)
 著者        Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA
 タイトル      MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
 雑誌        Ann Neurol 79:419-27 (2016)
 DOI:<a href=""https://doi.org/10.1002/ana.24575"">10.1002/ana.24575</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24799518"">24799518</a> (SBF1)
 著者        Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS
 タイトル      SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.
 雑誌        Neurology 82:1665-6 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000331"">10.1212/WNL.0000000000000331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21655088"">21655088</a> (FIG4)
 著者        Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH
 タイトル      Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
 雑誌        PLoS Genet 7:e1002104 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002104"">10.1371/journal.pgen.1002104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24027061"">24027061</a> (SURF1)
 著者        Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B
 タイトル      SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
 雑誌        Neurology 81:1523-30 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3182a4a518"">10.1212/WNL.0b013e3182a4a518</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27390132"">27390132</a> (SLC25A46)
 著者        Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA
 タイトル      SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31187503"">31187503</a> (PDXK)
 著者        Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botia JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H
 タイトル      PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
 雑誌        Ann Neurol 86:225-240 (2019)
 DOI:<a href=""https://doi.org/10.1002/ana.25524"">10.1002/ana.25524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23297365"">23297365</a> (PDK3)
 著者        Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA
 タイトル      A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
 雑誌        Hum Mol Genet 22:1404-16 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds557"">10.1093/hmg/dds557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22187985"">22187985</a> (INF2)
 著者        Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tete MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G
 タイトル      INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
 雑誌        N Engl J Med 365:2377-88 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1109122"">10.1056/NEJMoa1109122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23434117"">23434117</a> (GNB4)
 著者        Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC
 タイトル      Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 92:422-30 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.014"">10.1016/j.ajhg.2013.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23777631"">23777631</a> (PLEKHG5)
 著者        Azzedine H, Zavadakova P, Plante-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Medard JJ, Makowski E, Schols L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
 タイトル      PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
 雑誌        Hum Mol Genet 22:4224-32 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt274"">10.1093/hmg/ddt274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25152455"">25152455</a> (COX6A1)
 著者        Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K
 タイトル      A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 95:294-300 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.013"">10.1016/j.ajhg.2014.07.013</a>"
H00265,"遺伝性感覚性自律神経性ニューロパチー
 下位グループ    家族性自律神経失調症 [DS:H01987]
 先天性無痛無汗症 [DS:H01836]
 遺伝性感覚性ニューロパチー (HSN)
 痙性対麻痺を伴う遺伝性感覚性ニューロパチー [DS:H02380]",,,"Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups.",神経系疾患,,"(HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654]
 (HSAN1C) SPTLC2 [HSA:9517] [KO:K00654]
 (HSAN2A) WNK1 [HSA:65125] [KO:K08867]
 (HSAN2B) FAM134B [HSA:54463] [KO:K23880]
 (HSAN2C) KIF1A [HSA:547] [KO:K10392]
 (HSAN2D) SCN9A [HSA:6335] [KO:K04841]
 (HSAN3) IKBKAP [HSA:8518] [KO:K11373]
 (HSAN4) NTRK1 [HSA:4914] [KO:K03176]
 (HSAN5) NGFB [HSA:4803] [KO:K02582]
 (HSAN6) DST [HSA:667] [KO:K10382]
 (HSAN7) SCN11A [HSA:11280] [KO:K04843]
 (HSAN8) PRDM12 [HSA:59335] [KO:K24255]
 (HSN1D) ATL1 [HSA:51062] [KO:K17339]
 (HSN1E) DNMT1 [HSA:1786] [KO:K00558]
 (HSN1F) ATL3 [HSA:25923] [KO:K17339]",,,,,,"ICD-11: 8C21
 ICD-10: G90.1 G60.8
 MeSH: D009477
 OMIM: 162400 613640 201300 613115 614213 243000 223900 256800 608654 614653 615548 616488 613708 614116 615632 256840","PMID:16183296
 著者        Verpoorten N, De Jonghe P, Timmerman V
 タイトル      Disease mechanisms in hereditary sensory and autonomic neuropathies.
 雑誌        Neurobiol Dis 21:247-55 (2006)
 DOI:10.1016/j.nbd.2005.08.004
 PMID:16775373 (SPTLC1, WNK1, IKBKAP, NTRK1, NGFB)
 著者        Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR
 タイトル      Molecular genetics of hereditary sensory neuropathies.
 雑誌        Neuromolecular Med 8:147-58 (2006)
 DOI:10.1385/NMM:8:1:147
 PMID:20920666 (SPTLC2)
 著者        Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V
 タイトル      Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
 雑誌        Am J Hum Genet 87:513-22 (2010)
 DOI:10.1016/j.ajhg.2010.09.010
 PMID:19838196 (FAM134B)
 著者        Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA
 タイトル      Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
 雑誌        Nat Genet 41:1179-81 (2009)
 DOI:10.1038/ng.464
 PMID:21820098 (KIF1A)
 著者        Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA
 タイトル      KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
 雑誌        Am J Hum Genet 89:219-30 (2011)
 DOI:10.1016/j.ajhg.2011.06.013
 PMID:17167479 (SCN9A)
 著者        Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG
 タイトル      An SCN9A channelopathy causes congenital inability to experience pain.
 雑誌        Nature 444:894-8 (2006)
 DOI:10.1038/nature05413
 PMID:22522446 (DST)
 著者        Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O
 タイトル      Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
 雑誌        Ann Neurol 71:569-72 (2012)
 DOI:10.1002/ana.23524
 PMID:25118027 (SCN11A)
 著者        Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I
 タイトル      The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
 雑誌        Eur J Hum Genet 23:561-3 (2015)
 DOI:10.1038/ejhg.2014.166
 PMID:26005867 (PRDM12)
 著者        Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J
 タイトル      Transcriptional regulator PRDM12 is essential for human pain perception.
 雑誌        Nat Genet 47:803-8 (2015)
 DOI:10.1038/ng.3308
 PMID:21194679 (ATL1)
 著者        Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M
 タイトル      Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
 雑誌        Am J Hum Genet 88:99-105 (2011)
 DOI:10.1016/j.ajhg.2010.12.003
 PMID:21532572 (DNMT1)
 著者        Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ
 タイトル      Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
 雑誌        Nat Genet 43:595-600 (2011)
 DOI:10.1038/ng.830
 PMID:24459106 (ATL3)
 著者        Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I
 タイトル      Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
 雑誌        Brain 137:683-92 (2014)
 DOI:10.1093/brain/awt357","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00265"">H00265</a>","遺伝性感覚性自律神経性ニューロパチー
 下位グループ    家族性自律神経失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01987"">H01987</a>]
 先天性無痛無汗症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01836"">H01836</a>]
 遺伝性感覚性ニューロパチー (HSN)
 痙性対麻痺を伴う遺伝性感覚性ニューロパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02380"">H02380</a>]","Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups.",,"(HSAN1/HSN1A) SPTLC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10558"">10558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00654"">K00654</a>]
 (HSAN1C) SPTLC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9517"">9517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00654"">K00654</a>]
 (HSAN2A) WNK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65125"">65125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08867"">K08867</a>]
 (HSAN2B) FAM134B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54463"">54463</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23880"">K23880</a>]
 (HSAN2C) KIF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:547"">547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (HSAN2D) SCN9A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6335"">6335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04841"">K04841</a>]
 (HSAN3) IKBKAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8518"">8518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11373"">K11373</a>]
 (HSAN4) NTRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4914"">4914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03176"">K03176</a>]
 (HSAN5) NGFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4803"">4803</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02582"">K02582</a>]
 (HSAN6) DST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:667"">667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10382"">K10382</a>]
 (HSAN7) SCN11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11280"">11280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04843"">K04843</a>]
 (HSAN8) PRDM12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59335"">59335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24255"">K24255</a>]
 (HSN1D) ATL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51062"">51062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17339"">K17339</a>]
 (HSN1E) DNMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1786"">1786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00558"">K00558</a>]
 (HSN1F) ATL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25923"">25923</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17339"">K17339</a>]",,,,,,"ICD-11: 8C21
 ICD-10: G90.1 G60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009477"">D009477</a>
 OMIM: <a href=""https://www.omim.org/entry/162400"">162400</a> <a href=""https://www.omim.org/entry/613640"">613640</a> <a href=""https://www.omim.org/entry/201300"">201300</a> <a href=""https://www.omim.org/entry/613115"">613115</a> <a href=""https://www.omim.org/entry/614213"">614213</a> <a href=""https://www.omim.org/entry/243000"">243000</a> <a href=""https://www.omim.org/entry/223900"">223900</a> <a href=""https://www.omim.org/entry/256800"">256800</a> <a href=""https://www.omim.org/entry/608654"">608654</a> <a href=""https://www.omim.org/entry/614653"">614653</a> <a href=""https://www.omim.org/entry/615548"">615548</a> <a href=""https://www.omim.org/entry/616488"">616488</a> <a href=""https://www.omim.org/entry/613708"">613708</a> <a href=""https://www.omim.org/entry/614116"">614116</a> <a href=""https://www.omim.org/entry/615632"">615632</a> <a href=""https://www.omim.org/entry/256840"">256840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16183296"">16183296</a>
 著者        Verpoorten N, De Jonghe P, Timmerman V
 タイトル      Disease mechanisms in hereditary sensory and autonomic neuropathies.
 雑誌        Neurobiol Dis 21:247-55 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2005.08.004"">10.1016/j.nbd.2005.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16775373"">16775373</a> (SPTLC1, <a href=""https://pubmed.ncbi.nlm.nih.gov/WNK1,"">WNK1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IKBKAP,"">IKBKAP,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NTRK1,"">NTRK1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NGFB)"">NGFB)</a>
 著者        Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR
 タイトル      Molecular genetics of hereditary sensory neuropathies.
 雑誌        Neuromolecular Med 8:147-58 (2006)
 DOI:<a href=""https://doi.org/10.1385/NMM:"">10.1385/NMM:</a><a href=""https://doi.org/8:"">8:</a><a href=""https://doi.org/1:"">1:</a><a href=""https://doi.org/147"">147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920666"">20920666</a> (SPTLC2)
 著者        Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V
 タイトル      Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
 雑誌        Am J Hum Genet 87:513-22 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.010"">10.1016/j.ajhg.2010.09.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19838196"">19838196</a> (FAM134B)
 著者        Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA
 タイトル      Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
 雑誌        Nat Genet 41:1179-81 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.464"">10.1038/ng.464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820098"">21820098</a> (KIF1A)
 著者        Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA
 タイトル      KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
 雑誌        Am J Hum Genet 89:219-30 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.013"">10.1016/j.ajhg.2011.06.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17167479"">17167479</a> (SCN9A)
 著者        Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG
 タイトル      An SCN9A channelopathy causes congenital inability to experience pain.
 雑誌        Nature 444:894-8 (2006)
 DOI:<a href=""https://doi.org/10.1038/nature05413"">10.1038/nature05413</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22522446"">22522446</a> (DST)
 著者        Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O
 タイトル      Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
 雑誌        Ann Neurol 71:569-72 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23524"">10.1002/ana.23524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25118027"">25118027</a> (SCN11A)
 著者        Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I
 タイトル      The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
 雑誌        Eur J Hum Genet 23:561-3 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.166"">10.1038/ejhg.2014.166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26005867"">26005867</a> (PRDM12)
 著者        Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J
 タイトル      Transcriptional regulator PRDM12 is essential for human pain perception.
 雑誌        Nat Genet 47:803-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3308"">10.1038/ng.3308</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21194679"">21194679</a> (ATL1)
 著者        Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M
 タイトル      Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
 雑誌        Am J Hum Genet 88:99-105 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.003"">10.1016/j.ajhg.2010.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21532572"">21532572</a> (DNMT1)
 著者        Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ
 タイトル      Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
 雑誌        Nat Genet 43:595-600 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.830"">10.1038/ng.830</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24459106"">24459106</a> (ATL3)
 著者        Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I
 タイトル      Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
 雑誌        Brain 137:683-92 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt357"">10.1093/brain/awt357</a>"
H00266,"遺伝性痙性対麻痺
 下位グループ    MASA 症候群 [DS:H02178]",,,Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity.,神経系疾患,,"(SPG1) L1CAM [HSA:3897] [KO:K06550]
 (SPG2) PLP1 [HSA:5354] [KO:K17271]
 (SPG3) ATL1 [HSA:51062] [KO:K17339]
 (SPG4) SPAST [HSA:6683] [KO:K13254]
 (SPG5) CYP7B1 [HSA:9420] [KO:K07430]
 (SPG6) NIPA1 [HSA:123606] [KO:K19364]
 (SPG7) SPG7 [HSA:6687] [KO:K09552]
 (SPG8) WSHC5 [HSA:9897] [KO:K18464]
 (SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
 (SPG10) KIF5A [HSA:3798] [KO:K10396]
 (SPG11) SPG11 [HSA:80208] [KO:K19026]
 (SPG12) RTN2 [HSA:6253] [KO:K20722]
 (SPG13) HSPD1 [HSA:3329] [KO:K04077]
 (SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
 (SPG17) BSCL2 [HSA:26580] [KO:K19365]
 (SPG18) ERLIN2 [HSA:11160] [KO:K23341]
 (SPG20) SPART [HSA:23111] [KO:K19366]
 (SPG21) SPG21 [HSA:51324] [KO:K19367]
 (SPG23) DSTYK [HSA:25778] [KO:K16288]
 (SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
 (SPG28) DDHD1 [HSA:80821] [KO:K13619]
 (SPG30) KIF1A [HSA:547] [KO:K10392]
 (SPG31) REEP1 [HSA:65055] [KO:K17338]
 (SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
 (SPG35) FA2H [HSA:79152] [KO:K19703]
 (SPG39) PNPLA6 [HSA:10908] [KO:K14676]
 (SPG42) SLC33A1 [HSA:9197] [KO:K03372]
 (SPG43) C19orf12 [HSA:83636] [KO:K23168]
 (SPG44) GJC2 [HSA:57165] [KO:K07619]
 (SPG45) NT5C2 [HSA:22978] [KO:K01081]
 (SPG46) GBA2 [HSA:57704] [KO:K17108]
 (SPG47) AP4B1 [HSA:10717] [KO:K12401]
 (SPG48) AP5Z1 [HSA:9907] [KO:K19025]
 (SPG49) TECPR2 [HSA:9895] [KO:K23881]
 (SPG50) AP4M1 [HSA:9179] [KO:K12402]
 (SPG51) AP4E1 [HSA:23431] [KO:K12400]
 (SPG52) AP4S1 [HSA:11154] [KO:K12403]
 (SPG53) VPS37A [HSA:137492] [KO:K12185]
 (SPG54) DDHD2 [HSA:23259] [KO:K16545]
 (SPG55) MTRFR [HSA:91574] [KO:K23498]
 (SPG56) CYP2U1 [HSA:113612] [KO:K07422]
 (SPG57) TFG [HSA:10342] [KO:K09292]
 (SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
 (SPG62) ERLIN1 [HSA:10613] [KO:K23341]
 (SPG63) AMPD2 [HSA:271] [KO:K01490]
 (SPG64) ENTPD1 [HSA:953] [KO:K01510]
 (SPG72) REEP2 [HSA:51308] [KO:K17338]
 (SPG73) CPT1C [HSA:126129] [KO:K19524]
 (SPG74) IBA57 [HSA:200205] [KO:K22073]
 (SPG75) MAG [HSA:4099] [KO:K06771]
 (SPG76) CAPN1 [HSA:823] [KO:K01367]
 (SPG77) FARS2 [HSA:10667] [KO:K01889]
 (SPG78) ATP13A2 [HSA:23400] [KO:K13526]
 (SPG79) UCHL1 [HSA:7345] [KO:K05611]
 (SPG80) UBAP1 [HSA:51271] [KO:K24629]
 (SPG81) SELENOI [HSA:85465] [KO:K00993]
 (SPG82) PCYT2 [HSA:5833] [KO:K00967]
 (SPG83) HPDL [HSA:84842] [KO:K24788]
 (SPG84) PI4KA [HSA:5297] [KO:K00888]
 (SPG85) RNF170 [HSA:81790] [KO:K15707]
 (SPG86) ABHD16A [HSA:7920] [KO:K25824]",,,,,,"ICD-11: 8B44.0
 ICD-10: G11.4
 MeSH: D015419
 OMIM: 303350 312920 182600 182601 270800 600363 607259 603563 601162 616586 604187 604360 604805 605280 270700 270685 611225 275900 248900 270750 609195 609340 610357 610250 610244 612319 612020 612539 615043 613206 613162 614409 614066 613647 615031 612936 613744 614067 614898 615033 615035 615030 615658 615685 615681 615686 615683 615625 616282 616451 616680 616907 617046 617225 615491 618768 618770 619027 619621 619686 619735","PMID:19007737
 著者        Salinas S, Proukakis C, Crosby A, Warner TT
 タイトル      Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
 雑誌        Lancet Neurol 7:1127-38 (2008)
 DOI:10.1016/S1474-4422(08)70258-8
 PMID:16469273
 著者        Fink JK
 タイトル      Hereditary spastic paraplegia.
 雑誌        Curr Neurol Neurosci Rep 6:65-76 (2006)
 DOI:10.1007/s11910-996-0011-1
 PMID:14597333
 著者        Fink JK
 タイトル      Advances in the hereditary spastic paraplegias.
 雑誌        Exp Neurol 184 Suppl 1:S106-10 (2003)
 DOI:10.1016/j.expneurol.2003.08.005
 PMID:7920659 (L1CAM)
 著者        Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
 タイトル      X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
 雑誌        Nat Genet 7:402-7 (1994)
 DOI:10.1038/ng0794-402
 PMID:8012387 (PLP1)
 著者        Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O
 タイトル      X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
 雑誌        Nat Genet 6:257-62 (1994)
 DOI:10.1038/ng0394-257
 PMID:11685207 (ATL1)
 著者        Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK
 タイトル      Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
 雑誌        Nat Genet 29:326-31 (2001)
 DOI:10.1038/ng758
 PMID:10610178 (SPAST)
 著者        Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J
 タイトル      Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
 雑誌        Nat Genet 23:296-303 (1999)
 DOI:10.1038/15472
 PMID:18252231 (CYP7B1)
 著者        Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH
 タイトル      Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
 雑誌        Am J Hum Genet 82:510-5 (2008)
 DOI:10.1016/j.ajhg.2007.10.001
 PMID:14508710 (NIPA1)
 著者        Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK
 タイトル      NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
 雑誌        Am J Hum Genet 73:967-71 (2003)
 DOI:10.1086/378817
 PMID:9635427 (SPG7)
 著者        Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A
 タイトル      Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
 雑誌        Cell 93:973-83 (1998)
 DOI:10.1016/s0092-8674(00)81203-9
 PMID:17160902 (WASHC5)
 著者        Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA
 タイトル      Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 80:152-61 (2007)
 DOI:10.1086/510782
 PMID:26026163 (ALDH18A1)
 著者        Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G
 タイトル      Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
 雑誌        Brain 138:2191-205 (2015)
 DOI:10.1093/brain/awv143
 PMID:12355402 (KIF5A)
 著者        Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA
 タイトル      A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
 雑誌        Am J Hum Genet 71:1189-94 (2002)
 DOI:10.1086/344210
 PMID:17322883 (SPG11)
 著者        Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A
 タイトル      Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
 雑誌        Nat Genet 39:366-72 (2007)
 DOI:10.1038/ng1980
 PMID:22232211 (RTN2)
 著者        Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schule R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schols L, Orlacchio A, Reid E, Zuchner S
 タイトル      Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
 雑誌        J Clin Invest 122:538-44 (2012)
 DOI:10.1172/JCI60560
 PMID:11898127 (HSPD1)
 著者        Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P
 タイトル      Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
 雑誌        Am J Hum Genet 70:1328-32 (2002)
 DOI:10.1086/339935
 PMID:18394578 (ZFYVE26)
 著者        Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G
 タイトル      Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
 雑誌        Am J Hum Genet 82:992-1002 (2008)
 DOI:10.1016/j.ajhg.2008.03.004
 PMID:14981520 (BSCL2)
 著者        Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
 タイトル      Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
 雑誌        Nat Genet 36:271-6 (2004)
 DOI:10.1038/ng1313
 PMID:23109145 (ERLIN2)
 著者        Al-Saif A, Bohlega S, Al-Mohanna F
 タイトル      Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
 雑誌        Ann Neurol 72:510-6 (2012)
 DOI:10.1002/ana.23641
 PMID:12134148 (SPART)
 著者        Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH
 タイトル      SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
 雑誌        Nat Genet 31:347-8 (2002)
 DOI:10.1038/ng937
 PMID:14564668 (SPG21)
 著者        Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH
 タイトル      Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
 雑誌        Am J Hum Genet 73:1147-56 (2003)
 DOI:10.1086/379522
 PMID:28157540 (DSTYK)
 著者        Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA
 タイトル      Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
 雑誌        Am J Hum Genet 100:364-370 (2017)
 DOI:10.1016/j.ajhg.2017.01.014
 PMID:23746551 (B4GALNT1)
 著者        Boukhris A, Schule R, Loureiro JL, Lourenco CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G
 タイトル      Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 93:118-23 (2013)
 DOI:10.1016/j.ajhg.2013.05.006
 PMID:15786464 (DDHD1)
 著者        Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G
 タイトル      Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
 雑誌        Ann Neurol 57:567-71 (2005)
 DOI:10.1002/ana.20416
 PMID:21487076 (KIF1A)
 著者        Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
 タイトル      Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
 雑誌        Genome Res 21:658-64 (2011)
 DOI:10.1101/gr.117143.110
 PMID:16826527 (REEP1)
 著者        Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA
 タイトル      Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
 雑誌        Am J Hum Genet 79:365-9 (2006)
 DOI:10.1086/505361
 PMID:16826525 (ZFYVE27)
 著者        Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W
 タイトル      ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 79:351-7 (2006)
 DOI:10.1086/504927
 PMID:19068277 (FA2H)
 著者        Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O
 タイトル      Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
 雑誌        Am J Hum Genet 83:643-8 (2008)
 DOI:10.1016/j.ajhg.2008.10.010
 PMID:18313024 (PNPLA6)
 著者        Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK
 タイトル      Neuropathy target esterase gene mutations cause motor neuron disease.
 雑誌        Am J Hum Genet 82:780-5 (2008)
 DOI:10.1016/j.ajhg.2007.12.018
 PMID:19061983 (SLC33A1)
 著者        Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y
 タイトル      A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
 雑誌        Am J Hum Genet 83:752-9 (2008)
 DOI:10.1016/j.ajhg.2008.11.003
 PMID:23857908 (C19orf12)
 著者        Landoure G, Zhu PP, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Durr A, Stevanin G, Biesecker LG, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG
 タイトル      Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
 雑誌        Hum Mutat 34:1357-60 (2013)
 DOI:10.1002/humu.22378
 PMID:19056803 (GJC2)
 著者        Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D
 タイトル      Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
 雑誌        Brain 132:426-38 (2009)
 DOI:10.1093/brain/awn328
 PMID:24482476 (NT5C2 ARL6IP1 ERLIN1 AMPD2 ENTPD1)
 著者        Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG
 タイトル      Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
 雑誌        Science 343:506-511 (2014)
 DOI:10.1126/science.1247363
 PMID:23332916 (GBA2)
 著者        Martin E, Schule R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Zuchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G
 タイトル      Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 92:238-44 (2013)
 DOI:10.1016/j.ajhg.2012.11.021
 PMID:21620353 (AP4B1 AP4E1 AP4S1)
 著者        Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nothen MM, Munnich A, Strom TM, Reis A, Colleaux L
 タイトル      Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
 雑誌        Am J Hum Genet 88:788-795 (2011)
 DOI:10.1016/j.ajhg.2011.04.019
 PMID:20613862 (AP5Z1)
 著者        Slabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F
 タイトル      A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
 雑誌        PLoS Biol 8:e1000408 (2010)
 DOI:10.1371/journal.pbio.1000408
 PMID:23176824 (TECPR2)
 著者        Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D
 タイトル      Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
 雑誌        Am J Hum Genet 91:1065-72 (2012)
 DOI:10.1016/j.ajhg.2012.09.015
 PMID:19559397 (AP4M1)
 著者        Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM
 タイトル      Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
 雑誌        Am J Hum Genet 85:40-52 (2009)
 DOI:10.1016/j.ajhg.2009.06.004
 PMID:22717650 (VPS37A)
 著者        Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC
 タイトル      A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
 雑誌        J Med Genet 49:462-72 (2012)
 DOI:10.1136/jmedgenet-2012-100742
 PMID:23176823 (DDHD2)
 著者        Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Holler I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP
 タイトル      Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 91:1073-81 (2012)
 DOI:10.1016/j.ajhg.2012.10.017
 PMID:23188110 (MTRFR)
 著者        Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
 タイトル      A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
 雑誌        J Med Genet 49:777-84 (2012)
 DOI:10.1136/jmedgenet-2012-101212
 PMID:23176821 (CYP2U1)
 著者        Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G
 タイトル      Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 91:1051-64 (2012)
 DOI:10.1016/j.ajhg.2012.11.001
 PMID:23479643 (TFG)
 著者        Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A
 タイトル      Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
 雑誌        Proc Natl Acad Sci U S A 110:5091-6 (2013)
 DOI:10.1073/pnas.1217197110
 PMID:24388663 (REEP2)
 著者        Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F
 タイトル      Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 94:268-77 (2014)
 DOI:10.1016/j.ajhg.2013.12.005
 PMID:25751282 (CPT1C)
 著者        Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoise B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
 タイトル      Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
 雑誌        JAMA Neurol 72:561-70 (2015)
 DOI:10.1001/jamaneurol.2014.4769
 PMID:25609768 (IBA57)
 著者        Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R
 タイトル      Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
 雑誌        Neurology 84:659-67 (2015)
 DOI:10.1212/WNL.0000000000001270
 PMID:26179919 (MAG)
 著者        Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E
 タイトル      Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
 雑誌        Brain 138:2521-36 (2015)
 DOI:10.1093/brain/awv204
 PMID:27153400 (CAPN1)
 著者        Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Veriepe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupre N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B
 タイトル      Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
 雑誌        Am J Hum Genet 98:1038-1046 (2016)
 DOI:10.1016/j.ajhg.2016.04.002
 PMID:26553276 (FARS2)
 著者        Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y
 タイトル      A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
 雑誌        Hum Mutat 37:165-9 (2016)
 DOI:10.1002/humu.22930
 PMID:27217339 (ATP13A2)
 著者        Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
 タイトル      Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
 雑誌        Brain 139:1904-18 (2016)
 DOI:10.1093/brain/aww111
 PMID:23359680 (UCHL1)
 著者        Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M
 タイトル      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
 雑誌        Proc Natl Acad Sci U S A 110:3489-94 (2013)
 DOI:10.1073/pnas.1222732110
 PMID:30929741 (UBAP1)
 著者        Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintans B, Ordonez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schule R, Zuchner S, Faghihi MA
 タイトル      Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
 雑誌        Am J Hum Genet 104:767-773 (2019)
 DOI:10.1016/j.ajhg.2019.03.001
 PMID:28052917 (SELENOI)
 著者        Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH
 タイトル      A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
 雑誌        Brain 140:547-554 (2017)
 DOI:10.1093/brain/aww318
 PMID:31637422 (PCYT2)
 著者        Vaz FM, McDermott JH, Alders M, Wortmann SB, Kolker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S
 タイトル      Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
 雑誌        Brain 142:3382-3397 (2019)
 DOI:10.1093/brain/awz291
 PMID:32707086 (HPDL)
 著者        Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB
 タイトル      Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
 雑誌        Am J Hum Genet 107:364-373 (2020)
 DOI:10.1016/j.ajhg.2020.06.015
 PMID:34415322 (PI4KA)
 著者        Verdura E, Rodriguez-Palmero A, Velez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacon A, Michaud V, Goizet C, Ruiz M, Schluter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marce-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, Gonzalez Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A
 タイトル      Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
 雑誌        Brain 144:2659-2669 (2021)
 DOI:10.1093/brain/awab124
 PMID:31636353 (RNF170)
 著者        Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Holbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Muller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schule R
 タイトル      Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
 雑誌        Nat Commun 10:4790 (2019)
 DOI:10.1038/s41467-019-12620-9
 PMID:34489854 (ABHD16A)
 著者        Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G
 タイトル      Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
 雑誌        Front Neurol 12:720201 (2021)
 DOI:10.3389/fneur.2021.720201","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00266"">H00266</a>","遺伝性痙性対麻痺
 下位グループ    MASA 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02178"">H02178</a>]",Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity.,,"(SPG1) L1CAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3897"">3897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06550"">K06550</a>]
 (SPG2) PLP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5354"">5354</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17271"">K17271</a>]
 (SPG3) ATL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51062"">51062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17339"">K17339</a>]
 (SPG4) SPAST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6683"">6683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13254"">K13254</a>]
 (SPG5) CYP7B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9420"">9420</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07430"">K07430</a>]
 (SPG6) NIPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123606"">123606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19364"">K19364</a>]
 (SPG7) SPG7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6687"">6687</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09552"">K09552</a>]
 (SPG8) WSHC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9897"">9897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18464"">K18464</a>]
 (SPG9) ALDH18A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5832"">5832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12657"">K12657</a>]
 (SPG10) KIF5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3798"">3798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10396"">K10396</a>]
 (SPG11) SPG11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80208"">80208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19026"">K19026</a>]
 (SPG12) RTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6253"">6253</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20722"">K20722</a>]
 (SPG13) HSPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3329"">3329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04077"">K04077</a>]
 (SPG15) ZFYVE26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23503"">23503</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19027"">K19027</a>]
 (SPG17) BSCL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26580"">26580</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19365"">K19365</a>]
 (SPG18) ERLIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11160"">11160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23341"">K23341</a>]
 (SPG20) SPART [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23111"">23111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19366"">K19366</a>]
 (SPG21) SPG21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51324"">51324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19367"">K19367</a>]
 (SPG23) DSTYK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25778"">25778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16288"">K16288</a>]
 (SPG26) B4GALNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2583"">2583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00725"">K00725</a>]
 (SPG28) DDHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80821"">80821</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13619"">K13619</a>]
 (SPG30) KIF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:547"">547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (SPG31) REEP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65055"">65055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17338"">K17338</a>]
 (SPG33) ZFYVE27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:118813"">118813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19368"">K19368</a>]
 (SPG35) FA2H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79152"">79152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19703"">K19703</a>]
 (SPG39) PNPLA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10908"">10908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14676"">K14676</a>]
 (SPG42) SLC33A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9197"">9197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03372"">K03372</a>]
 (SPG43) C19orf12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83636"">83636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23168"">K23168</a>]
 (SPG44) GJC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57165"">57165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07619"">K07619</a>]
 (SPG45) NT5C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22978"">22978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01081"">K01081</a>]
 (SPG46) GBA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57704"">57704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17108"">K17108</a>]
 (SPG47) AP4B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10717"">10717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12401"">K12401</a>]
 (SPG48) AP5Z1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9907"">9907</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19025"">K19025</a>]
 (SPG49) TECPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9895"">9895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23881"">K23881</a>]
 (SPG50) AP4M1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9179"">9179</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12402"">K12402</a>]
 (SPG51) AP4E1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23431"">23431</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12400"">K12400</a>]
 (SPG52) AP4S1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11154"">11154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12403"">K12403</a>]
 (SPG53) VPS37A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137492"">137492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12185"">K12185</a>]
 (SPG54) DDHD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23259"">23259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16545"">K16545</a>]
 (SPG55) MTRFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91574"">91574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23498"">K23498</a>]
 (SPG56) CYP2U1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113612"">113612</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07422"">K07422</a>]
 (SPG57) TFG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10342"">10342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09292"">K09292</a>]
 (SPG61) ARL6IP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23204"">23204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24864"">K24864</a>]
 (SPG62) ERLIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10613"">10613</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23341"">K23341</a>]
 (SPG63) AMPD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:271"">271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01490"">K01490</a>]
 (SPG64) ENTPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:953"">953</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01510"">K01510</a>]
 (SPG72) REEP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51308"">51308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17338"">K17338</a>]
 (SPG73) CPT1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126129"">126129</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19524"">K19524</a>]
 (SPG74) IBA57 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200205"">200205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22073"">K22073</a>]
 (SPG75) MAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4099"">4099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06771"">K06771</a>]
 (SPG76) CAPN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:823"">823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01367"">K01367</a>]
 (SPG77) FARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10667"">10667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01889"">K01889</a>]
 (SPG78) ATP13A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23400"">23400</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13526"">K13526</a>]
 (SPG79) UCHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7345"">7345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05611"">K05611</a>]
 (SPG80) UBAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51271"">51271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24629"">K24629</a>]
 (SPG81) SELENOI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85465"">85465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00993"">K00993</a>]
 (SPG82) PCYT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5833"">5833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00967"">K00967</a>]
 (SPG83) HPDL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84842"">84842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24788"">K24788</a>]
 (SPG84) PI4KA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5297"">5297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00888"">K00888</a>]
 (SPG85) RNF170 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81790"">81790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15707"">K15707</a>]
 (SPG86) ABHD16A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7920"">7920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25824"">K25824</a>]",,,,,,"ICD-11: 8B44.0
 ICD-10: G11.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015419"">D015419</a>
 OMIM: <a href=""https://www.omim.org/entry/303350"">303350</a> <a href=""https://www.omim.org/entry/312920"">312920</a> <a href=""https://www.omim.org/entry/182600"">182600</a> <a href=""https://www.omim.org/entry/182601"">182601</a> <a href=""https://www.omim.org/entry/270800"">270800</a> <a href=""https://www.omim.org/entry/600363"">600363</a> <a href=""https://www.omim.org/entry/607259"">607259</a> <a href=""https://www.omim.org/entry/603563"">603563</a> <a href=""https://www.omim.org/entry/601162"">601162</a> <a href=""https://www.omim.org/entry/616586"">616586</a> <a href=""https://www.omim.org/entry/604187"">604187</a> <a href=""https://www.omim.org/entry/604360"">604360</a> <a href=""https://www.omim.org/entry/604805"">604805</a> <a href=""https://www.omim.org/entry/605280"">605280</a> <a href=""https://www.omim.org/entry/270700"">270700</a> <a href=""https://www.omim.org/entry/270685"">270685</a> <a href=""https://www.omim.org/entry/611225"">611225</a> <a href=""https://www.omim.org/entry/275900"">275900</a> <a href=""https://www.omim.org/entry/248900"">248900</a> <a href=""https://www.omim.org/entry/270750"">270750</a> <a href=""https://www.omim.org/entry/609195"">609195</a> <a href=""https://www.omim.org/entry/609340"">609340</a> <a href=""https://www.omim.org/entry/610357"">610357</a> <a href=""https://www.omim.org/entry/610250"">610250</a> <a href=""https://www.omim.org/entry/610244"">610244</a> <a href=""https://www.omim.org/entry/612319"">612319</a> <a href=""https://www.omim.org/entry/612020"">612020</a> <a href=""https://www.omim.org/entry/612539"">612539</a> <a href=""https://www.omim.org/entry/615043"">615043</a> <a href=""https://www.omim.org/entry/613206"">613206</a> <a href=""https://www.omim.org/entry/613162"">613162</a> <a href=""https://www.omim.org/entry/614409"">614409</a> <a href=""https://www.omim.org/entry/614066"">614066</a> <a href=""https://www.omim.org/entry/613647"">613647</a> <a href=""https://www.omim.org/entry/615031"">615031</a> <a href=""https://www.omim.org/entry/612936"">612936</a> <a href=""https://www.omim.org/entry/613744"">613744</a> <a href=""https://www.omim.org/entry/614067"">614067</a> <a href=""https://www.omim.org/entry/614898"">614898</a> <a href=""https://www.omim.org/entry/615033"">615033</a> <a href=""https://www.omim.org/entry/615035"">615035</a> <a href=""https://www.omim.org/entry/615030"">615030</a> <a href=""https://www.omim.org/entry/615658"">615658</a> <a href=""https://www.omim.org/entry/615685"">615685</a> <a href=""https://www.omim.org/entry/615681"">615681</a> <a href=""https://www.omim.org/entry/615686"">615686</a> <a href=""https://www.omim.org/entry/615683"">615683</a> <a href=""https://www.omim.org/entry/615625"">615625</a> <a href=""https://www.omim.org/entry/616282"">616282</a> <a href=""https://www.omim.org/entry/616451"">616451</a> <a href=""https://www.omim.org/entry/616680"">616680</a> <a href=""https://www.omim.org/entry/616907"">616907</a> <a href=""https://www.omim.org/entry/617046"">617046</a> <a href=""https://www.omim.org/entry/617225"">617225</a> <a href=""https://www.omim.org/entry/615491"">615491</a> <a href=""https://www.omim.org/entry/618768"">618768</a> <a href=""https://www.omim.org/entry/618770"">618770</a> <a href=""https://www.omim.org/entry/619027"">619027</a> <a href=""https://www.omim.org/entry/619621"">619621</a> <a href=""https://www.omim.org/entry/619686"">619686</a> <a href=""https://www.omim.org/entry/619735"">619735</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19007737"">19007737</a>
 著者        Salinas S, Proukakis C, Crosby A, Warner TT
 タイトル      Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
 雑誌        Lancet Neurol 7:1127-38 (2008)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(08)70258-8"">10.1016/S1474-4422(08)70258-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16469273"">16469273</a>
 著者        Fink JK
 タイトル      Hereditary spastic paraplegia.
 雑誌        Curr Neurol Neurosci Rep 6:65-76 (2006)
 DOI:<a href=""https://doi.org/10.1007/s11910-996-0011-1"">10.1007/s11910-996-0011-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14597333"">14597333</a>
 著者        Fink JK
 タイトル      Advances in the hereditary spastic paraplegias.
 雑誌        Exp Neurol 184 Suppl 1:S106-10 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.expneurol.2003.08.005"">10.1016/j.expneurol.2003.08.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7920659"">7920659</a> (L1CAM)
 著者        Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
 タイトル      X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
 雑誌        Nat Genet 7:402-7 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng0794-402"">10.1038/ng0794-402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8012387"">8012387</a> (PLP1)
 著者        Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O
 タイトル      X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
 雑誌        Nat Genet 6:257-62 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng0394-257"">10.1038/ng0394-257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11685207"">11685207</a> (ATL1)
 著者        Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK
 タイトル      Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
 雑誌        Nat Genet 29:326-31 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng758"">10.1038/ng758</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10610178"">10610178</a> (SPAST)
 著者        Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J
 タイトル      Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
 雑誌        Nat Genet 23:296-303 (1999)
 DOI:<a href=""https://doi.org/10.1038/15472"">10.1038/15472</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252231"">18252231</a> (CYP7B1)
 著者        Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH
 タイトル      Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
 雑誌        Am J Hum Genet 82:510-5 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.10.001"">10.1016/j.ajhg.2007.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14508710"">14508710</a> (NIPA1)
 著者        Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK
 タイトル      NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
 雑誌        Am J Hum Genet 73:967-71 (2003)
 DOI:<a href=""https://doi.org/10.1086/378817"">10.1086/378817</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9635427"">9635427</a> (SPG7)
 著者        Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A
 タイトル      Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
 雑誌        Cell 93:973-83 (1998)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)81203-9"">10.1016/s0092-8674(00)81203-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160902"">17160902</a> (WASHC5)
 著者        Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA
 タイトル      Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 80:152-61 (2007)
 DOI:<a href=""https://doi.org/10.1086/510782"">10.1086/510782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26026163"">26026163</a> (ALDH18A1)
 著者        Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G
 タイトル      Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
 雑誌        Brain 138:2191-205 (2015)
 DOI:<a href=""https://doi.org/10.1093/brain/awv143"">10.1093/brain/awv143</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12355402"">12355402</a> (KIF5A)
 著者        Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA
 タイトル      A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
 雑誌        Am J Hum Genet 71:1189-94 (2002)
 DOI:<a href=""https://doi.org/10.1086/344210"">10.1086/344210</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17322883"">17322883</a> (SPG11)
 著者        Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A
 タイトル      Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
 雑誌        Nat Genet 39:366-72 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1980"">10.1038/ng1980</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22232211"">22232211</a> (RTN2)
 著者        Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schule R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schols L, Orlacchio A, Reid E, Zuchner S
 タイトル      Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
 雑誌        J Clin Invest 122:538-44 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI60560"">10.1172/JCI60560</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11898127"">11898127</a> (HSPD1)
 著者        Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P
 タイトル      Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
 雑誌        Am J Hum Genet 70:1328-32 (2002)
 DOI:<a href=""https://doi.org/10.1086/339935"">10.1086/339935</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18394578"">18394578</a> (ZFYVE26)
 著者        Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G
 タイトル      Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
 雑誌        Am J Hum Genet 82:992-1002 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.004"">10.1016/j.ajhg.2008.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14981520"">14981520</a> (BSCL2)
 著者        Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
 タイトル      Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
 雑誌        Nat Genet 36:271-6 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1313"">10.1038/ng1313</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23109145"">23109145</a> (ERLIN2)
 著者        Al-Saif A, Bohlega S, Al-Mohanna F
 タイトル      Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
 雑誌        Ann Neurol 72:510-6 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23641"">10.1002/ana.23641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12134148"">12134148</a> (SPART)
 著者        Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH
 タイトル      SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
 雑誌        Nat Genet 31:347-8 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng937"">10.1038/ng937</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14564668"">14564668</a> (SPG21)
 著者        Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH
 タイトル      Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
 雑誌        Am J Hum Genet 73:1147-56 (2003)
 DOI:<a href=""https://doi.org/10.1086/379522"">10.1086/379522</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28157540"">28157540</a> (DSTYK)
 著者        Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA
 タイトル      Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
 雑誌        Am J Hum Genet 100:364-370 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.01.014"">10.1016/j.ajhg.2017.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23746551"">23746551</a> (B4GALNT1)
 著者        Boukhris A, Schule R, Loureiro JL, Lourenco CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G
 タイトル      Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 93:118-23 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.006"">10.1016/j.ajhg.2013.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15786464"">15786464</a> (DDHD1)
 著者        Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G
 タイトル      Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
 雑誌        Ann Neurol 57:567-71 (2005)
 DOI:<a href=""https://doi.org/10.1002/ana.20416"">10.1002/ana.20416</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21487076"">21487076</a> (KIF1A)
 著者        Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
 タイトル      Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
 雑誌        Genome Res 21:658-64 (2011)
 DOI:<a href=""https://doi.org/10.1101/gr.117143.110"">10.1101/gr.117143.110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826527"">16826527</a> (REEP1)
 著者        Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA
 タイトル      Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
 雑誌        Am J Hum Genet 79:365-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/505361"">10.1086/505361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826525"">16826525</a> (ZFYVE27)
 著者        Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W
 タイトル      ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 79:351-7 (2006)
 DOI:<a href=""https://doi.org/10.1086/504927"">10.1086/504927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19068277"">19068277</a> (FA2H)
 著者        Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O
 タイトル      Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
 雑誌        Am J Hum Genet 83:643-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.010"">10.1016/j.ajhg.2008.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18313024"">18313024</a> (PNPLA6)
 著者        Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK
 タイトル      Neuropathy target esterase gene mutations cause motor neuron disease.
 雑誌        Am J Hum Genet 82:780-5 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.12.018"">10.1016/j.ajhg.2007.12.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19061983"">19061983</a> (SLC33A1)
 著者        Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y
 タイトル      A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
 雑誌        Am J Hum Genet 83:752-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.11.003"">10.1016/j.ajhg.2008.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23857908"">23857908</a> (C19orf12)
 著者        Landoure G, Zhu PP, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Durr A, Stevanin G, Biesecker LG, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG
 タイトル      Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
 雑誌        Hum Mutat 34:1357-60 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22378"">10.1002/humu.22378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19056803"">19056803</a> (GJC2)
 著者        Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D
 タイトル      Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
 雑誌        Brain 132:426-38 (2009)
 DOI:<a href=""https://doi.org/10.1093/brain/awn328"">10.1093/brain/awn328</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24482476"">24482476</a> (NT5C2 <a href=""https://pubmed.ncbi.nlm.nih.gov/ARL6IP1"">ARL6IP1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ERLIN1"">ERLIN1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/AMPD2"">AMPD2</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ENTPD1)"">ENTPD1)</a>
 著者        Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG
 タイトル      Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
 雑誌        Science 343:506-511 (2014)
 DOI:<a href=""https://doi.org/10.1126/science.1247363"">10.1126/science.1247363</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23332916"">23332916</a> (GBA2)
 著者        Martin E, Schule R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Zuchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G
 タイトル      Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 92:238-44 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.11.021"">10.1016/j.ajhg.2012.11.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21620353"">21620353</a> (AP4B1 <a href=""https://pubmed.ncbi.nlm.nih.gov/AP4E1"">AP4E1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/AP4S1)"">AP4S1)</a>
 著者        Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nothen MM, Munnich A, Strom TM, Reis A, Colleaux L
 タイトル      Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
 雑誌        Am J Hum Genet 88:788-795 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.019"">10.1016/j.ajhg.2011.04.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20613862"">20613862</a> (AP5Z1)
 著者        Slabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F
 タイトル      A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
 雑誌        PLoS Biol 8:e1000408 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pbio.1000408"">10.1371/journal.pbio.1000408</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23176824"">23176824</a> (TECPR2)
 著者        Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D
 タイトル      Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
 雑誌        Am J Hum Genet 91:1065-72 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.015"">10.1016/j.ajhg.2012.09.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19559397"">19559397</a> (AP4M1)
 著者        Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM
 タイトル      Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
 雑誌        Am J Hum Genet 85:40-52 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.004"">10.1016/j.ajhg.2009.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22717650"">22717650</a> (VPS37A)
 著者        Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC
 タイトル      A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
 雑誌        J Med Genet 49:462-72 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100742"">10.1136/jmedgenet-2012-100742</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23176823"">23176823</a> (DDHD2)
 著者        Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Holler I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP
 タイトル      Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 91:1073-81 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.017"">10.1016/j.ajhg.2012.10.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23188110"">23188110</a> (MTRFR)
 著者        Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
 タイトル      A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
 雑誌        J Med Genet 49:777-84 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101212"">10.1136/jmedgenet-2012-101212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23176821"">23176821</a> (CYP2U1)
 著者        Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G
 タイトル      Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 91:1051-64 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.11.001"">10.1016/j.ajhg.2012.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23479643"">23479643</a> (TFG)
 著者        Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A
 タイトル      Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
 雑誌        Proc Natl Acad Sci U S A 110:5091-6 (2013)
 DOI:<a href=""https://doi.org/10.1073/pnas.1217197110"">10.1073/pnas.1217197110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24388663"">24388663</a> (REEP2)
 著者        Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F
 タイトル      Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
 雑誌        Am J Hum Genet 94:268-77 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.005"">10.1016/j.ajhg.2013.12.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25751282"">25751282</a> (CPT1C)
 著者        Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoise B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
 タイトル      Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
 雑誌        JAMA Neurol 72:561-70 (2015)
 DOI:<a href=""https://doi.org/10.1001/jamaneurol.2014.4769"">10.1001/jamaneurol.2014.4769</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25609768"">25609768</a> (IBA57)
 著者        Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R
 タイトル      Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
 雑誌        Neurology 84:659-67 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001270"">10.1212/WNL.0000000000001270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26179919"">26179919</a> (MAG)
 著者        Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E
 タイトル      Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
 雑誌        Brain 138:2521-36 (2015)
 DOI:<a href=""https://doi.org/10.1093/brain/awv204"">10.1093/brain/awv204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27153400"">27153400</a> (CAPN1)
 著者        Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Veriepe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupre N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B
 タイトル      Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
 雑誌        Am J Hum Genet 98:1038-1046 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.04.002"">10.1016/j.ajhg.2016.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26553276"">26553276</a> (FARS2)
 著者        Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y
 タイトル      A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
 雑誌        Hum Mutat 37:165-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/humu.22930"">10.1002/humu.22930</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27217339"">27217339</a> (ATP13A2)
 著者        Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
 タイトル      Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
 雑誌        Brain 139:1904-18 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/aww111"">10.1093/brain/aww111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23359680"">23359680</a> (UCHL1)
 著者        Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M
 タイトル      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
 雑誌        Proc Natl Acad Sci U S A 110:3489-94 (2013)
 DOI:<a href=""https://doi.org/10.1073/pnas.1222732110"">10.1073/pnas.1222732110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30929741"">30929741</a> (UBAP1)
 著者        Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintans B, Ordonez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schule R, Zuchner S, Faghihi MA
 タイトル      Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
 雑誌        Am J Hum Genet 104:767-773 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.03.001"">10.1016/j.ajhg.2019.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28052917"">28052917</a> (SELENOI)
 著者        Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH
 タイトル      A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
 雑誌        Brain 140:547-554 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/aww318"">10.1093/brain/aww318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31637422"">31637422</a> (PCYT2)
 著者        Vaz FM, McDermott JH, Alders M, Wortmann SB, Kolker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S
 タイトル      Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
 雑誌        Brain 142:3382-3397 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz291"">10.1093/brain/awz291</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32707086"">32707086</a> (HPDL)
 著者        Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB
 タイトル      Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
 雑誌        Am J Hum Genet 107:364-373 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.015"">10.1016/j.ajhg.2020.06.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34415322"">34415322</a> (PI4KA)
 著者        Verdura E, Rodriguez-Palmero A, Velez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacon A, Michaud V, Goizet C, Ruiz M, Schluter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marce-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, Gonzalez Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A
 タイトル      Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
 雑誌        Brain 144:2659-2669 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awab124"">10.1093/brain/awab124</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31636353"">31636353</a> (RNF170)
 著者        Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Holbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Muller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schule R
 タイトル      Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
 雑誌        Nat Commun 10:4790 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-12620-9"">10.1038/s41467-019-12620-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34489854"">34489854</a> (ABHD16A)
 著者        Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G
 タイトル      Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
 雑誌        Front Neurol 12:720201 (2021)
 DOI:<a href=""https://doi.org/10.3389/fneur.2021.720201"">10.3389/fneur.2021.720201</a>"
H00267,全前脳胞症,,,Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.,先天奇形,,"(HPE2) SIX3 [HSA:6496] [KO:K19473]
 (HPE3) SHH [HSA:6469] [KO:K11988]
 (HPE4) TGIF1 [HSA:7050] [KO:K19383]
 (HPE5) ZIC2 [HSA:7546] [KO:K06235]
 (HPE7) PTCH1 [HSA:5727] [KO:K06225]
 (HPE9) GLI2 [HSA:2736] [KO:K16798]
 (HPE11) CDON [HSA:50937] [KO:K20033]
 (HPE12) CNOT1 [HSA:23019] [KO:K12604]
 (HPE13) STAG2 [HSA:10735] [KO:K06671]",,,,,,"ICD-11: LA05.2
 ICD-10: Q04.2
 MeSH: D016142
 OMIM: 236100 157170 142945 142946 609637 605934 610828 609408 610829 614226 618500 301043","PMID:18394003
 著者        Fernandes M, Hebert JM
 タイトル      The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.
 雑誌        Clin Genet 73:413-23 (2008)
 DOI:10.1111/j.1399-0004.2008.00994.x
 PMID:17274816
 著者        Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
 タイトル      Holoprosencephaly.
 雑誌        Orphanet J Rare Dis 2:8 (2007)
 DOI:10.1186/1750-1172-2-8
 PMID:17001700
 著者        Cohen MM Jr
 タイトル      Holoprosencephaly: clinical, anatomic, and molecular dimensions.
 雑誌        Birth Defects Res A Clin Mol Teratol 76:658-73 (2006)
 DOI:10.1002/bdra.20295
 PMID:10369266 (SIX3)
 著者        Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M
 タイトル      Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
 雑誌        Nat Genet 22:196-8 (1999)
 DOI:10.1038/9718
 PMID:8896572 (SHH)
 著者        Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M
 タイトル      Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
 雑誌        Nat Genet 14:357-60 (1996)
 DOI:10.1038/ng1196-357
 PMID:10835638 (TGIF1)
 著者        Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ
 タイトル      Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
 雑誌        Nat Genet 25:205-8 (2000)
 DOI:10.1038/76074
 PMID:9771712 (ZIC2)
 著者        Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M
 タイトル      Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
 雑誌        Nat Genet 20:180-3 (1998)
 DOI:10.1038/2484
 PMID:11941477 (PTCH1)
 著者        Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M
 タイトル      Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
 雑誌        Hum Genet 110:297-301 (2002)
 DOI:10.1007/s00439-002-0695-5
 PMID:14581620 (GLI2)
 著者        Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M
 タイトル      Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
 雑誌        Proc Natl Acad Sci U S A 100:13424-9 (2003)
 DOI:10.1073/pnas.2235734100
 PMID:21802063 (CDON)
 著者        Bae GU, Domene S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS
 タイトル      Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
 雑誌        Am J Hum Genet 89:231-40 (2011)
 DOI:10.1016/j.ajhg.2011.07.001
 PMID:31006513 (CNOT1)
 著者        De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I
 タイトル      A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
 雑誌        Am J Hum Genet 104:985-989 (2019)
 DOI:10.1016/j.ajhg.2019.03.018
 PMID:31334757 (STAG2)
 著者        Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M
 タイトル      Cohesin complex-associated holoprosencephaly.
 雑誌        Brain 142:2631-2643 (2019)
 DOI:10.1093/brain/awz210","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00267"">H00267</a>",全前脳胞症,Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.,,"(HPE2) SIX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6496"">6496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19473"">K19473</a>]
 (HPE3) SHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6469"">6469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11988"">K11988</a>]
 (HPE4) TGIF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7050"">7050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19383"">K19383</a>]
 (HPE5) ZIC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7546"">7546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06235"">K06235</a>]
 (HPE7) PTCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5727"">5727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06225"">K06225</a>]
 (HPE9) GLI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2736"">2736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16798"">K16798</a>]
 (HPE11) CDON [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50937"">50937</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20033"">K20033</a>]
 (HPE12) CNOT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23019"">23019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12604"">K12604</a>]
 (HPE13) STAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10735"">10735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06671"">K06671</a>]",,,,,,"ICD-11: LA05.2
 ICD-10: Q04.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016142"">D016142</a>
 OMIM: <a href=""https://www.omim.org/entry/236100"">236100</a> <a href=""https://www.omim.org/entry/157170"">157170</a> <a href=""https://www.omim.org/entry/142945"">142945</a> <a href=""https://www.omim.org/entry/142946"">142946</a> <a href=""https://www.omim.org/entry/609637"">609637</a> <a href=""https://www.omim.org/entry/605934"">605934</a> <a href=""https://www.omim.org/entry/610828"">610828</a> <a href=""https://www.omim.org/entry/609408"">609408</a> <a href=""https://www.omim.org/entry/610829"">610829</a> <a href=""https://www.omim.org/entry/614226"">614226</a> <a href=""https://www.omim.org/entry/618500"">618500</a> <a href=""https://www.omim.org/entry/301043"">301043</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18394003"">18394003</a>
 著者        Fernandes M, Hebert JM
 タイトル      The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.
 雑誌        Clin Genet 73:413-23 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.00994.x"">10.1111/j.1399-0004.2008.00994.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17274816"">17274816</a>
 著者        Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
 タイトル      Holoprosencephaly.
 雑誌        Orphanet J Rare Dis 2:8 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-8"">10.1186/1750-1172-2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17001700"">17001700</a>
 著者        Cohen MM Jr
 タイトル      Holoprosencephaly: clinical, anatomic, and molecular dimensions.
 雑誌        Birth Defects Res A Clin Mol Teratol 76:658-73 (2006)
 DOI:<a href=""https://doi.org/10.1002/bdra.20295"">10.1002/bdra.20295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10369266"">10369266</a> (SIX3)
 著者        Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M
 タイトル      Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
 雑誌        Nat Genet 22:196-8 (1999)
 DOI:<a href=""https://doi.org/10.1038/9718"">10.1038/9718</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8896572"">8896572</a> (SHH)
 著者        Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M
 タイトル      Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
 雑誌        Nat Genet 14:357-60 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1196-357"">10.1038/ng1196-357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10835638"">10835638</a> (TGIF1)
 著者        Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ
 タイトル      Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
 雑誌        Nat Genet 25:205-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/76074"">10.1038/76074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9771712"">9771712</a> (ZIC2)
 著者        Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M
 タイトル      Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
 雑誌        Nat Genet 20:180-3 (1998)
 DOI:<a href=""https://doi.org/10.1038/2484"">10.1038/2484</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11941477"">11941477</a> (PTCH1)
 著者        Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M
 タイトル      Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
 雑誌        Hum Genet 110:297-301 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0695-5"">10.1007/s00439-002-0695-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14581620"">14581620</a> (GLI2)
 著者        Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M
 タイトル      Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
 雑誌        Proc Natl Acad Sci U S A 100:13424-9 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.2235734100"">10.1073/pnas.2235734100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21802063"">21802063</a> (CDON)
 著者        Bae GU, Domene S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS
 タイトル      Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
 雑誌        Am J Hum Genet 89:231-40 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.001"">10.1016/j.ajhg.2011.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31006513"">31006513</a> (CNOT1)
 著者        De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I
 タイトル      A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
 雑誌        Am J Hum Genet 104:985-989 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.03.018"">10.1016/j.ajhg.2019.03.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31334757"">31334757</a> (STAG2)
 著者        Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M
 タイトル      Cohesin complex-associated holoprosencephaly.
 雑誌        Brain 142:2631-2643 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz210"">10.1093/brain/awz210</a>"
H00268,"滑脳症
 下位グループ    ミラー・ディーカー症候群
 上位グループ    神経細胞移動異常症 [DS:H01835]",,,"Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia.",先天奇形,,"(LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
 (LIS2) RELN [HSA:5649] [KO:K06249]
 (LIS3) TUBA1A [HSA:7846] [KO:K07374]
 (LIS4) NDE1 [HSA:54820] [KO:K16738]
 (LIS5) LAMB1 [HSA:3912] [KO:K05636]
 (LIS6) KATNB1 [HSA:10300] [KO:K18643]
 (LIS7) CDK5 [HSA:1020] [KO:K02090]
 (LIS8) TMTC3 [HSA:160418] [KO:K23424]
 (LIS9) MACF1 [HSA:23499] [KO:K19827]
 (LIS10) CEP85L [HSA:387119] [KO:K16766]
 (LISX1) DCX [HSA:1641] [KO:K16579]
 (LISX2) ARX [HSA:170302] [KO:K09452]",,,,,,"ICD-11: LD20.1
 ICD-10: Q04.3
 MeSH: D054082
 OMIM: 607432 257320 611603 614019 615191 616212 616342 617255 618325 300067 300215 618873","PMID:16724181
 著者        Guerrini R, Marini C
 タイトル      Genetic malformations of cortical development.
 雑誌        Exp Brain Res 173:322-33 (2006)
 DOI:10.1007/s00221-006-0501-z
 PMID:17997185
 著者        Kerjan G, Gleeson JG
 タイトル      Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
 雑誌        Trends Genet 23:623-30 (2007)
 DOI:10.1016/j.tig.2007.09.003
 PMID:19120042
 著者        Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
 タイトル      Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
 雑誌        Acta Paediatr 98:421-33 (2009)
 DOI:10.1111/j.1651-2227.2008.01160.x
 PMID:19136950 (PAFAH1B1)
 著者        Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O
 タイトル      Increased LIS1 expression affects human and mouse brain development.
 雑誌        Nat Genet 41:168-77 (2009)
 DOI:10.1038/ng.302
 PMID:10973257 (RELN)
 著者        Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA
 タイトル      Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
 雑誌        Nat Genet 26:93-6 (2000)
 DOI:10.1038/79246
 PMID:17584854 (TUBA1A)
 著者        Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J
 タイトル      Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
 雑誌        Hum Mutat 28:1055-64 (2007)
 DOI:10.1002/humu.20572
 PMID:21529752 (NDE1)
 著者        Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG
 タイトル      The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
 雑誌        Am J Hum Genet 88:523-35 (2011)
 DOI:10.1016/j.ajhg.2011.03.019
 PMID:23472759 (LAMB1)
 著者        Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
 タイトル      Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
 雑誌        Am J Hum Genet 92:468-74 (2013)
 DOI:10.1016/j.ajhg.2013.02.005
 PMID:25521378 (KATNB1)
 著者        Mishra-Gorur K, Caglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgumus GT, Nishimura S, Han W, Tu S, Baran B, Gumus H, Dilber C, Zaki MS, Hossni HA, Riviere JB, Kayserili H, Spencer EG, Rosti RO, Schroth J, Per H, Caglar C, Caglar C, Dolen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Sestan N, Louvi A, Bilguvar K, Yasuno K, Gleeson JG, Gunel M
 タイトル      Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
 雑誌        Neuron 84:1226-39 (2014)
 DOI:10.1016/j.neuron.2014.12.014
 PMID:25560765 (CDK5)
 著者        Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H
 タイトル      Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
 雑誌        Hum Genet 134:305-14 (2015)
 DOI:10.1007/s00439-014-1522-5
 PMID:27773428 (TMTC3)
 著者        Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra R, Gunel M, Gleeson JG
 タイトル      Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
 雑誌        Am J Hum Genet 99:1181-1189 (2016)
 DOI:10.1016/j.ajhg.2016.09.007
 PMID:30471716 (MACF1)
 著者        Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, Engle EC, Verheijen FW, Doherty D, Mancini GMS
 タイトル      MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
 雑誌        Am J Hum Genet 103:1009-1021 (2018)
 DOI:10.1016/j.ajhg.2018.10.019
 PMID:32097630 (CEP85L)
 著者        Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC
 タイトル      Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
 雑誌        Neuron 106:237-245.e8 (2020)
 DOI:10.1016/j.neuron.2020.01.027
 PMID:18685874 (DCX)
 著者        Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N
 タイトル      The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
 雑誌        Neurogenetics 9:277-85 (2008)
 DOI:10.1007/s10048-008-0141-5
 PMID:12379852 (ARX)
 著者        Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K
 タイトル      Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
 雑誌        Nat Genet 32:359-69 (2002)
 DOI:10.1038/ng1009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00268"">H00268</a>","滑脳症
 下位グループ    ミラー・ディーカー症候群
 上位グループ    神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]","Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia.",,"(LIS1/MDS) PAFAH1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5048"">5048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16794"">K16794</a>]
 (LIS2) RELN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5649"">5649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06249"">K06249</a>]
 (LIS3) TUBA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7846"">7846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07374"">K07374</a>]
 (LIS4) NDE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54820"">54820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16738"">K16738</a>]
 (LIS5) LAMB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3912"">3912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05636"">K05636</a>]
 (LIS6) KATNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10300"">10300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18643"">K18643</a>]
 (LIS7) CDK5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1020"">1020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02090"">K02090</a>]
 (LIS8) TMTC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:160418"">160418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23424"">K23424</a>]
 (LIS9) MACF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23499"">23499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19827"">K19827</a>]
 (LIS10) CEP85L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387119"">387119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16766"">K16766</a>]
 (LISX1) DCX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1641"">1641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16579"">K16579</a>]
 (LISX2) ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]",,,,,,"ICD-11: LD20.1
 ICD-10: Q04.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054082"">D054082</a>
 OMIM: <a href=""https://www.omim.org/entry/607432"">607432</a> <a href=""https://www.omim.org/entry/257320"">257320</a> <a href=""https://www.omim.org/entry/611603"">611603</a> <a href=""https://www.omim.org/entry/614019"">614019</a> <a href=""https://www.omim.org/entry/615191"">615191</a> <a href=""https://www.omim.org/entry/616212"">616212</a> <a href=""https://www.omim.org/entry/616342"">616342</a> <a href=""https://www.omim.org/entry/617255"">617255</a> <a href=""https://www.omim.org/entry/618325"">618325</a> <a href=""https://www.omim.org/entry/300067"">300067</a> <a href=""https://www.omim.org/entry/300215"">300215</a> <a href=""https://www.omim.org/entry/618873"">618873</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16724181"">16724181</a>
 著者        Guerrini R, Marini C
 タイトル      Genetic malformations of cortical development.
 雑誌        Exp Brain Res 173:322-33 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00221-006-0501-z"">10.1007/s00221-006-0501-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17997185"">17997185</a>
 著者        Kerjan G, Gleeson JG
 タイトル      Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
 雑誌        Trends Genet 23:623-30 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.tig.2007.09.003"">10.1016/j.tig.2007.09.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19120042"">19120042</a>
 著者        Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
 タイトル      Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
 雑誌        Acta Paediatr 98:421-33 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2008.01160.x"">10.1111/j.1651-2227.2008.01160.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19136950"">19136950</a> (PAFAH1B1)
 著者        Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O
 タイトル      Increased LIS1 expression affects human and mouse brain development.
 雑誌        Nat Genet 41:168-77 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.302"">10.1038/ng.302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973257"">10973257</a> (RELN)
 著者        Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA
 タイトル      Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
 雑誌        Nat Genet 26:93-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/79246"">10.1038/79246</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17584854"">17584854</a> (TUBA1A)
 著者        Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J
 タイトル      Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
 雑誌        Hum Mutat 28:1055-64 (2007)
 DOI:<a href=""https://doi.org/10.1002/humu.20572"">10.1002/humu.20572</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21529752"">21529752</a> (NDE1)
 著者        Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG
 タイトル      The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
 雑誌        Am J Hum Genet 88:523-35 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.019"">10.1016/j.ajhg.2011.03.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23472759"">23472759</a> (LAMB1)
 著者        Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
 タイトル      Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
 雑誌        Am J Hum Genet 92:468-74 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.02.005"">10.1016/j.ajhg.2013.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25521378"">25521378</a> (KATNB1)
 著者        Mishra-Gorur K, Caglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgumus GT, Nishimura S, Han W, Tu S, Baran B, Gumus H, Dilber C, Zaki MS, Hossni HA, Riviere JB, Kayserili H, Spencer EG, Rosti RO, Schroth J, Per H, Caglar C, Caglar C, Dolen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Sestan N, Louvi A, Bilguvar K, Yasuno K, Gleeson JG, Gunel M
 タイトル      Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
 雑誌        Neuron 84:1226-39 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2014.12.014"">10.1016/j.neuron.2014.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25560765"">25560765</a> (CDK5)
 著者        Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H
 タイトル      Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
 雑誌        Hum Genet 134:305-14 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00439-014-1522-5"">10.1007/s00439-014-1522-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27773428"">27773428</a> (TMTC3)
 著者        Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra R, Gunel M, Gleeson JG
 タイトル      Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
 雑誌        Am J Hum Genet 99:1181-1189 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.007"">10.1016/j.ajhg.2016.09.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30471716"">30471716</a> (MACF1)
 著者        Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, Engle EC, Verheijen FW, Doherty D, Mancini GMS
 タイトル      MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
 雑誌        Am J Hum Genet 103:1009-1021 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.019"">10.1016/j.ajhg.2018.10.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32097630"">32097630</a> (CEP85L)
 著者        Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC
 タイトル      Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
 雑誌        Neuron 106:237-245.e8 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2020.01.027"">10.1016/j.neuron.2020.01.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18685874"">18685874</a> (DCX)
 著者        Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N
 タイトル      The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
 雑誌        Neurogenetics 9:277-85 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10048-008-0141-5"">10.1007/s10048-008-0141-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12379852"">12379852</a> (ARX)
 著者        Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K
 タイトル      Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
 雑誌        Nat Genet 32:359-69 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1009"">10.1038/ng1009</a>"
H00269,小頭症,,,Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume.,先天奇形,,"(MCPH1) MCPH1 [HSA:79648] [KO:K19403]
 (MCPH2) WDR62 [HSA:284403] [KO:K21762]
 (MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542]
 (MCPH4) KNL1 [HSA:57082] [KO:K11542]
 (MCPH5) ASPM [HSA:259266] [KO:K16743]
 (MCPH6) CENPJ [HSA:55835] [KO:K11502]
 (MCPH7) STIL [HSA:6491] [KO:K16724]
 (MCPH8) CEP135 [HSA:9662] [KO:K16461]
 (MCPH9) CEP152 [HSA:22995] [KO:K16728]
 (MCPH10) ZNF335 [HSA:63925] [KO:K24371]
 (MCPH11) PHC1 [HSA:1911] [KO:K11456]
 (MCPH12) CDK6 [HSA:1021] [KO:K02091]
 (MCPH13) CENPE [HSA:1062] [KO:K11498]
 (MCPH14) SASS6 [HSA:163786] [KO:K16487]
 (MCPH15) MFSD2A [HSA:84879] [KO:K23894]
 (MCPH16) ANKLE2 [HSA:23141] [KO:K21412]
 (MCPH17) CIT [HSA:11113] [KO:K16308]
 (MCPH18) WDFY3 [HSA:23001] [KO:K22262]
 (MCPH19) COPB2 [HSA:9276] [KO:K17302]
 (MCPH20) KIF14 [HSA:9928] [KO:K17915]
 (MCPH21) NCAPD2 [HSA:9918] [KO:K06677]
 (MCPH22) NCAPD3 [HSA:23310] [KO:K11491]
 (MCPH23) NCAPH [HSA:23397] [KO:K06676]
 (MCPH24) NUP37 [HSA:79023] [KO:K14302]
 (MCPH25) TRAPPC14 [HSA:55262] [KO:K24261]
 (MCPH26) LMNB1 [HSA:4001] [KO:K07611]
 (MCPH27) LMNB2 [HSA:84823] [KO:K07611]
 (MCPH28) RRP7A [HSA:27341] [KO:K14545]",,,,,,"ICD-11: LA05.0
 ICD-10: Q02
 MeSH: D008831
 OMIM: 607117 604317 604804 604321 608716 608393 612703 614673 614852 615095 615414 616080 616051 616402 616486 616681 617090 617520 251230 617800 617914 617983 617984 617985 618179 618351 619179 619180 619453","PMID:17980308
 著者        Abuelo D
 タイトル      Microcephaly syndromes.
 雑誌        Semin Pediatr Neurol 14:118-27 (2007)
 DOI:10.1016/j.spen.2007.07.003
 PMID:16829198
 著者        Cox J, Jackson AP, Bond J, Woods CG
 タイトル      What primary microcephaly can tell us about brain growth.
 雑誌        Trends Mol Med 12:358-66 (2006)
 DOI:10.1016/j.molmed.2006.06.006
 PMID:15806441
 著者        Woods CG, Bond J, Enard W
 タイトル      Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
 雑誌        Am J Hum Genet 76:717-28 (2005)
 DOI:10.1086/429930
 PMID:12046007 (MCPH1)
 著者        Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG
 タイトル      Identification of microcephalin, a protein implicated in determining the size of the human brain.
 雑誌        Am J Hum Genet 71:136-42 (2002)
 DOI:10.1086/341283
 PMID:21496009 (WDR62)
 著者        Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A
 タイトル      Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
 雑誌        Clin Genet 80:532-40 (2011)
 DOI:10.1111/j.1399-0004.2011.01686.x
 PMID:15793586 (CDK5RAP2 CENPJ)
 著者        Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG
 タイトル      A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
 雑誌        Nat Genet 37:353-5 (2005)
 DOI:10.1038/ng1539
 PMID:22983954 (KNL1)
 著者        Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M
 タイトル      Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
 雑誌        Hum Mol Genet 21:5306-17 (2012)
 DOI:10.1093/hmg/dds386
 PMID:12355089 (ASPM)
 著者        Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG
 タイトル      ASPM is a major determinant of cerebral cortical size.
 雑誌        Nat Genet 32:316-20 (2002)
 DOI:10.1038/ng995
 PMID:19215732 (STIL)
 著者        Kumar A, Girimaji SC, Duvvari MR, Blanton SH
 タイトル      Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
 雑誌        Am J Hum Genet 84:286-90 (2009)
 DOI:10.1016/j.ajhg.2009.01.017
 PMID:22521416 (CEP135)
 著者        Hussain MS, Baig SM, Neumann S, Nurnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmuller J, Frommolt P, Thiele H, Noegel AA, Nurnberg P
 タイトル      A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
 雑誌        Am J Hum Genet 90:871-8 (2012)
 DOI:10.1016/j.ajhg.2012.03.016
 PMID:20598275 (CEP152)
 著者        Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME
 タイトル      Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
 雑誌        Am J Hum Genet 87:40-51 (2010)
 DOI:10.1016/j.ajhg.2010.06.003
 PMID:23178126 (ZNF335)
 著者        Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA
 タイトル      Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
 雑誌        Cell 151:1097-112 (2012)
 DOI:10.1016/j.cell.2012.10.043
 PMID:23418308 (PHC1)
 著者        Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C
 タイトル      Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.
 雑誌        Hum Mol Genet 22:2200-13 (2013)
 DOI:10.1093/hmg/ddt072
 PMID:23918663 (CDK6)
 著者        Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nurnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmuller J, Frommolt P, Thiele H, Hohne W, Yigit G, Wollnik B, Neubauer BA, Nurnberg P, Noegel AA
 タイトル      CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
 雑誌        Hum Mol Genet 22:5199-214 (2013)
 DOI:10.1093/hmg/ddt374
 PMID:24748105 (CENPE)
 著者        Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M
 タイトル      Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
 雑誌        Hum Genet 133:1023-39 (2014)
 DOI:10.1007/s00439-014-1443-3
 PMID:24951542 (SASS6)
 著者        Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmuller J, Steinmetz MO, Enzinger C, Thiele H, Hohne W, Nurnberg G, Baig SM, Ansar M, Nurnberg P, Vincent JB, Speicher MR, Gonczy P, Windpassinger C
 タイトル      A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
 雑誌        Hum Mol Genet 23:5940-9 (2014)
 DOI:10.1093/hmg/ddu318
 PMID:26005865 (MFSD2A)
 著者        Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH
 タイトル      A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
 雑誌        Nat Genet 47:814-7 (2015)
 DOI:10.1038/ng.3313
 PMID:25259927 (ANKLE2)
 著者        Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ
 タイトル      A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
 雑誌        Cell 159:200-14 (2014)
 DOI:10.1016/j.cell.2014.09.002
 PMID:27519304 (CIT)
 著者        Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI
 タイトル      CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
 雑誌        Hum Genet 135:1199-207 (2016)
 DOI:10.1007/s00439-016-1724-0
 PMID:27008544 (WDFY3)
 著者        Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS
 タイトル      ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
 雑誌        PLoS Genet 12:e1005919 (2016)
 DOI:10.1371/journal.pgen.1005919
 PMID:29036432 (COPB2)
 著者        DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW
 タイトル      Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
 雑誌        Hum Mol Genet 26:4836-4848 (2017)
 DOI:10.1093/hmg/ddx362
 PMID:28892560 (KIF14)
 著者        Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Hohne W, Noegel AA, Al-Owain M, Hortnagel K, Stobe P, Baig SM, Nurnberg P, Alkuraya FS, Hahn A, Hussain MS
 タイトル      Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
 雑誌        Ann Neurol 82:562-577 (2017)
 DOI:10.1002/ana.25044
 PMID:27737959 (NCAPD2 NCAPD3 NCAPH)
 著者        Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP
 タイトル      Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
 雑誌        Genes Dev 30:2158-2172 (2016)
 DOI:10.1101/gad.286351.116
 PMID:30179222 (NUP37)
 著者        Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
 タイトル      Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
 雑誌        J Clin Invest 128:4313-4328 (2018)
 DOI:10.1172/JCI98688
 PMID:30715179 (TRAPPC14)
 著者        Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY
 タイトル      Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.
 雑誌        Brain 142:574-585 (2019)
 DOI:10.1093/brain/awz004
 PMID:32910914 (LMNB1)
 著者        Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H
 タイトル      De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
 雑誌        Am J Hum Genet 107:753-762 (2020)
 DOI:10.1016/j.ajhg.2020.08.015
 PMID:33033404 (LMNB2)
 著者        Parry DA, Martin CA, Greene P, Marsh JA, Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M, Jackson AP
 タイトル      Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
 雑誌        Genet Med 23:408-414 (2021)
 DOI:10.1038/s41436-020-00980-3
 PMID:33199730 (RRP7A)
 著者        Farooq M, Lindbaek L, Krogh N, Doganli C, Keller C, Monnich M, Goncalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Mollgard K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA
 タイトル      RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
 雑誌        Nat Commun 11:5816 (2020)
 DOI:10.1038/s41467-020-19658-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00269"">H00269</a>",小頭症,Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume.,,"(MCPH1) MCPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79648"">79648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19403"">K19403</a>]
 (MCPH2) WDR62 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284403"">284403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21762"">K21762</a>]
 (MCPH3) CDK5RAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55755"">55755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16542"">K16542</a>]
 (MCPH4) KNL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57082"">57082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11542"">K11542</a>]
 (MCPH5) ASPM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:259266"">259266</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16743"">K16743</a>]
 (MCPH6) CENPJ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55835"">55835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11502"">K11502</a>]
 (MCPH7) STIL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6491"">6491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16724"">K16724</a>]
 (MCPH8) CEP135 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9662"">9662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16461"">K16461</a>]
 (MCPH9) CEP152 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22995"">22995</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16728"">K16728</a>]
 (MCPH10) ZNF335 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63925"">63925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24371"">K24371</a>]
 (MCPH11) PHC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1911"">1911</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11456"">K11456</a>]
 (MCPH12) CDK6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1021"">1021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02091"">K02091</a>]
 (MCPH13) CENPE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1062"">1062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11498"">K11498</a>]
 (MCPH14) SASS6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:163786"">163786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16487"">K16487</a>]
 (MCPH15) MFSD2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84879"">84879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23894"">K23894</a>]
 (MCPH16) ANKLE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23141"">23141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21412"">K21412</a>]
 (MCPH17) CIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11113"">11113</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16308"">K16308</a>]
 (MCPH18) WDFY3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23001"">23001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22262"">K22262</a>]
 (MCPH19) COPB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9276"">9276</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17302"">K17302</a>]
 (MCPH20) KIF14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9928"">9928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17915"">K17915</a>]
 (MCPH21) NCAPD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9918"">9918</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06677"">K06677</a>]
 (MCPH22) NCAPD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23310"">23310</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11491"">K11491</a>]
 (MCPH23) NCAPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23397"">23397</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06676"">K06676</a>]
 (MCPH24) NUP37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79023"">79023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14302"">K14302</a>]
 (MCPH25) TRAPPC14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55262"">55262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24261"">K24261</a>]
 (MCPH26) LMNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4001"">4001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07611"">K07611</a>]
 (MCPH27) LMNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84823"">84823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07611"">K07611</a>]
 (MCPH28) RRP7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27341"">27341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14545"">K14545</a>]",,,,,,"ICD-11: LA05.0
 ICD-10: Q02
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008831"">D008831</a>
 OMIM: <a href=""https://www.omim.org/entry/607117"">607117</a> <a href=""https://www.omim.org/entry/604317"">604317</a> <a href=""https://www.omim.org/entry/604804"">604804</a> <a href=""https://www.omim.org/entry/604321"">604321</a> <a href=""https://www.omim.org/entry/608716"">608716</a> <a href=""https://www.omim.org/entry/608393"">608393</a> <a href=""https://www.omim.org/entry/612703"">612703</a> <a href=""https://www.omim.org/entry/614673"">614673</a> <a href=""https://www.omim.org/entry/614852"">614852</a> <a href=""https://www.omim.org/entry/615095"">615095</a> <a href=""https://www.omim.org/entry/615414"">615414</a> <a href=""https://www.omim.org/entry/616080"">616080</a> <a href=""https://www.omim.org/entry/616051"">616051</a> <a href=""https://www.omim.org/entry/616402"">616402</a> <a href=""https://www.omim.org/entry/616486"">616486</a> <a href=""https://www.omim.org/entry/616681"">616681</a> <a href=""https://www.omim.org/entry/617090"">617090</a> <a href=""https://www.omim.org/entry/617520"">617520</a> <a href=""https://www.omim.org/entry/251230"">251230</a> <a href=""https://www.omim.org/entry/617800"">617800</a> <a href=""https://www.omim.org/entry/617914"">617914</a> <a href=""https://www.omim.org/entry/617983"">617983</a> <a href=""https://www.omim.org/entry/617984"">617984</a> <a href=""https://www.omim.org/entry/617985"">617985</a> <a href=""https://www.omim.org/entry/618179"">618179</a> <a href=""https://www.omim.org/entry/618351"">618351</a> <a href=""https://www.omim.org/entry/619179"">619179</a> <a href=""https://www.omim.org/entry/619180"">619180</a> <a href=""https://www.omim.org/entry/619453"">619453</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17980308"">17980308</a>
 著者        Abuelo D
 タイトル      Microcephaly syndromes.
 雑誌        Semin Pediatr Neurol 14:118-27 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2007.07.003"">10.1016/j.spen.2007.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16829198"">16829198</a>
 著者        Cox J, Jackson AP, Bond J, Woods CG
 タイトル      What primary microcephaly can tell us about brain growth.
 雑誌        Trends Mol Med 12:358-66 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.molmed.2006.06.006"">10.1016/j.molmed.2006.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15806441"">15806441</a>
 著者        Woods CG, Bond J, Enard W
 タイトル      Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
 雑誌        Am J Hum Genet 76:717-28 (2005)
 DOI:<a href=""https://doi.org/10.1086/429930"">10.1086/429930</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12046007"">12046007</a> (MCPH1)
 著者        Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG
 タイトル      Identification of microcephalin, a protein implicated in determining the size of the human brain.
 雑誌        Am J Hum Genet 71:136-42 (2002)
 DOI:<a href=""https://doi.org/10.1086/341283"">10.1086/341283</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496009"">21496009</a> (WDR62)
 著者        Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A
 タイトル      Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
 雑誌        Clin Genet 80:532-40 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01686.x"">10.1111/j.1399-0004.2011.01686.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15793586"">15793586</a> (CDK5RAP2 <a href=""https://pubmed.ncbi.nlm.nih.gov/CENPJ)"">CENPJ)</a>
 著者        Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG
 タイトル      A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
 雑誌        Nat Genet 37:353-5 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1539"">10.1038/ng1539</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22983954"">22983954</a> (KNL1)
 著者        Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M
 タイトル      Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
 雑誌        Hum Mol Genet 21:5306-17 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds386"">10.1093/hmg/dds386</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12355089"">12355089</a> (ASPM)
 著者        Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG
 タイトル      ASPM is a major determinant of cerebral cortical size.
 雑誌        Nat Genet 32:316-20 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng995"">10.1038/ng995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19215732"">19215732</a> (STIL)
 著者        Kumar A, Girimaji SC, Duvvari MR, Blanton SH
 タイトル      Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
 雑誌        Am J Hum Genet 84:286-90 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.01.017"">10.1016/j.ajhg.2009.01.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22521416"">22521416</a> (CEP135)
 著者        Hussain MS, Baig SM, Neumann S, Nurnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmuller J, Frommolt P, Thiele H, Noegel AA, Nurnberg P
 タイトル      A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
 雑誌        Am J Hum Genet 90:871-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.016"">10.1016/j.ajhg.2012.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20598275"">20598275</a> (CEP152)
 著者        Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME
 タイトル      Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
 雑誌        Am J Hum Genet 87:40-51 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.06.003"">10.1016/j.ajhg.2010.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23178126"">23178126</a> (ZNF335)
 著者        Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA
 タイトル      Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
 雑誌        Cell 151:1097-112 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2012.10.043"">10.1016/j.cell.2012.10.043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23418308"">23418308</a> (PHC1)
 著者        Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C
 タイトル      Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.
 雑誌        Hum Mol Genet 22:2200-13 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt072"">10.1093/hmg/ddt072</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23918663"">23918663</a> (CDK6)
 著者        Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nurnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmuller J, Frommolt P, Thiele H, Hohne W, Yigit G, Wollnik B, Neubauer BA, Nurnberg P, Noegel AA
 タイトル      CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
 雑誌        Hum Mol Genet 22:5199-214 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt374"">10.1093/hmg/ddt374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24748105"">24748105</a> (CENPE)
 著者        Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M
 タイトル      Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
 雑誌        Hum Genet 133:1023-39 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00439-014-1443-3"">10.1007/s00439-014-1443-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24951542"">24951542</a> (SASS6)
 著者        Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmuller J, Steinmetz MO, Enzinger C, Thiele H, Hohne W, Nurnberg G, Baig SM, Ansar M, Nurnberg P, Vincent JB, Speicher MR, Gonczy P, Windpassinger C
 タイトル      A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
 雑誌        Hum Mol Genet 23:5940-9 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu318"">10.1093/hmg/ddu318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26005865"">26005865</a> (MFSD2A)
 著者        Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH
 タイトル      A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
 雑誌        Nat Genet 47:814-7 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3313"">10.1038/ng.3313</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25259927"">25259927</a> (ANKLE2)
 著者        Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ
 タイトル      A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
 雑誌        Cell 159:200-14 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2014.09.002"">10.1016/j.cell.2014.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27519304"">27519304</a> (CIT)
 著者        Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI
 タイトル      CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
 雑誌        Hum Genet 135:1199-207 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1724-0"">10.1007/s00439-016-1724-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27008544"">27008544</a> (WDFY3)
 著者        Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS
 タイトル      ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
 雑誌        PLoS Genet 12:e1005919 (2016)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005919"">10.1371/journal.pgen.1005919</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29036432"">29036432</a> (COPB2)
 著者        DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW
 タイトル      Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
 雑誌        Hum Mol Genet 26:4836-4848 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx362"">10.1093/hmg/ddx362</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28892560"">28892560</a> (KIF14)
 著者        Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Hohne W, Noegel AA, Al-Owain M, Hortnagel K, Stobe P, Baig SM, Nurnberg P, Alkuraya FS, Hahn A, Hussain MS
 タイトル      Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
 雑誌        Ann Neurol 82:562-577 (2017)
 DOI:<a href=""https://doi.org/10.1002/ana.25044"">10.1002/ana.25044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27737959"">27737959</a> (NCAPD2 <a href=""https://pubmed.ncbi.nlm.nih.gov/NCAPD3"">NCAPD3</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NCAPH)"">NCAPH)</a>
 著者        Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP
 タイトル      Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
 雑誌        Genes Dev 30:2158-2172 (2016)
 DOI:<a href=""https://doi.org/10.1101/gad.286351.116"">10.1101/gad.286351.116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30179222"">30179222</a> (NUP37)
 著者        Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
 タイトル      Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
 雑誌        J Clin Invest 128:4313-4328 (2018)
 DOI:<a href=""https://doi.org/10.1172/JCI98688"">10.1172/JCI98688</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30715179"">30715179</a> (TRAPPC14)
 著者        Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY
 タイトル      Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.
 雑誌        Brain 142:574-585 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz004"">10.1093/brain/awz004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32910914"">32910914</a> (LMNB1)
 著者        Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H
 タイトル      De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
 雑誌        Am J Hum Genet 107:753-762 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.08.015"">10.1016/j.ajhg.2020.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33033404"">33033404</a> (LMNB2)
 著者        Parry DA, Martin CA, Greene P, Marsh JA, Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M, Jackson AP
 タイトル      Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
 雑誌        Genet Med 23:408-414 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-00980-3"">10.1038/s41436-020-00980-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33199730"">33199730</a> (RRP7A)
 著者        Farooq M, Lindbaek L, Krogh N, Doganli C, Keller C, Monnich M, Goncalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Mollgard K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA
 タイトル      RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
 雑誌        Nat Commun 11:5816 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-19658-0"">10.1038/s41467-020-19658-0</a>"
H00270,"脳室周囲結節性異所性灰白質
 上位グループ    神経細胞移動異常症 [DS:H01835]",,,Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.,先天奇形,,"(PVNH1) FLNA [HSA:2316] [KO:K04437]
 (PVNH2) ARFGEF2 [HSA:10564] [KO:K18442]
 (PVNH6) ERMARD [HSA:55780] [KO:K25139]
 (PVNH7) NEDD4L [HSA:23327] [KO:K13305]
 (PVNH8) ARF1 [HSA:375] [KO:K07937]
 (PVNH9) MAP1B [HSA:4131] [KO:K10429]",,,,,,"ICD-11: LA05.5Y
 ICD-10: Q04.8
 MeSH: D054091
 OMIM: 300049 608097 615544 617201 618185 618918","PMID:19120042
 著者        Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
 タイトル      Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
 雑誌        Acta Paediatr 98:421-33 (2009)
 DOI:10.1111/j.1651-2227.2008.01160.x
 PMID:18201775
 著者        Sarkisian MR, Bartley CM, Rakic P
 タイトル      Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex.
 雑誌        Trends Neurosci 31:54-61 (2008)
 DOI:10.1016/j.tins.2007.11.009
 PMID:16724181
 著者        Guerrini R, Marini C
 タイトル      Genetic malformations of cortical development.
 雑誌        Exp Brain Res 173:322-33 (2006)
 DOI:10.1007/s00221-006-0501-z
 PMID:15996530 (PVNH1_2)
 著者        Lu J, Sheen V
 タイトル      Periventricular heterotopia.
 雑誌        Epilepsy Behav 7:143-9 (2005)
 DOI:10.1016/j.yebeh.2005.05.001
 PMID:24056535 (PVNH6)
 著者        Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
 タイトル      Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
 雑誌        Brain 136:3378-94 (2013)
 DOI:10.1093/brain/awt249
 PMID:27694961 (PVNH7)
 著者        Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J
 タイトル      Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
 雑誌        Nat Genet 48:1349-1358 (2016)
 DOI:10.1038/ng.3676
 PMID:28868155 (PVNH8)
 著者        Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT
 タイトル      Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
 雑誌        NPJ Genom Med 1:16036 (2016)
 DOI:10.1038/npjgenmed.2016.36
 PMID:29738522 (PVNH9)
 著者        Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M
 タイトル      De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
 雑誌        PLoS Genet 14:e1007281 (2018)
 DOI:10.1371/journal.pgen.1007281","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00270"">H00270</a>","脳室周囲結節性異所性灰白質
 上位グループ    神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]",Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.,,"(PVNH1) FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (PVNH2) ARFGEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10564"">10564</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18442"">K18442</a>]
 (PVNH6) ERMARD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55780"">55780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25139"">K25139</a>]
 (PVNH7) NEDD4L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23327"">23327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13305"">K13305</a>]
 (PVNH8) ARF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375"">375</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07937"">K07937</a>]
 (PVNH9) MAP1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4131"">4131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10429"">K10429</a>]",,,,,,"ICD-11: LA05.5Y
 ICD-10: Q04.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054091"">D054091</a>
 OMIM: <a href=""https://www.omim.org/entry/300049"">300049</a> <a href=""https://www.omim.org/entry/608097"">608097</a> <a href=""https://www.omim.org/entry/615544"">615544</a> <a href=""https://www.omim.org/entry/617201"">617201</a> <a href=""https://www.omim.org/entry/618185"">618185</a> <a href=""https://www.omim.org/entry/618918"">618918</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19120042"">19120042</a>
 著者        Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
 タイトル      Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
 雑誌        Acta Paediatr 98:421-33 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2008.01160.x"">10.1111/j.1651-2227.2008.01160.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18201775"">18201775</a>
 著者        Sarkisian MR, Bartley CM, Rakic P
 タイトル      Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex.
 雑誌        Trends Neurosci 31:54-61 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.tins.2007.11.009"">10.1016/j.tins.2007.11.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16724181"">16724181</a>
 著者        Guerrini R, Marini C
 タイトル      Genetic malformations of cortical development.
 雑誌        Exp Brain Res 173:322-33 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00221-006-0501-z"">10.1007/s00221-006-0501-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15996530"">15996530</a> (PVNH1_2)
 著者        Lu J, Sheen V
 タイトル      Periventricular heterotopia.
 雑誌        Epilepsy Behav 7:143-9 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.yebeh.2005.05.001"">10.1016/j.yebeh.2005.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24056535"">24056535</a> (PVNH6)
 著者        Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
 タイトル      Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
 雑誌        Brain 136:3378-94 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt249"">10.1093/brain/awt249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27694961"">27694961</a> (PVNH7)
 著者        Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J
 タイトル      Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
 雑誌        Nat Genet 48:1349-1358 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3676"">10.1038/ng.3676</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28868155"">28868155</a> (PVNH8)
 著者        Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT
 タイトル      Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
 雑誌        NPJ Genom Med 1:16036 (2016)
 DOI:<a href=""https://doi.org/10.1038/npjgenmed.2016.36"">10.1038/npjgenmed.2016.36</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29738522"">29738522</a> (PVNH9)
 著者        Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M
 タイトル      De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
 雑誌        PLoS Genet 14:e1007281 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007281"">10.1371/journal.pgen.1007281</a>"
H00271,"多小脳回
 下位グループ    両側前頭頭頂多小脳回 (BFPP)
 常染色体劣性遺伝性両側シルビウス裂周囲多小脳回 (BPPR)
 両側後頭側頭多小脳回 (BTOP)
 小脳低形成と関節拘縮を伴うシルビウス裂周囲多小脳回 (PMGYCHA)
 血管型 EDS を伴う多小脳回 (PMGEDSV)
 上位グループ    神経細胞移動異常症 [DS:H01835]",,,Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.,先天奇形,,"(BFPP/BFPR) ADGRG1 [HSA:9289] [KO:K08450]
 (BTOP) FIG4 [HSA:9896] [KO:K22913]
 (PMGYCHA) PI4KA [HSA:5297] [KO:K00888]
 (PMGEDSV) COL3A1 [HSA:1281] [KO:K19720]",,,,,,"ICD-11: LA05.50
 ICD-10: Q04.8
 MeSH: D054220
 OMIM: 606854 615752 612691 616531 618343","PMID:18262290
 著者        Guerrini R, Dobyns WB, Barkovich AJ
 タイトル      Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
 雑誌        Trends Neurosci 31:154-62 (2008)
 DOI:10.1016/j.tins.2007.12.004
 PMID:15863665 (BFPP/ BFPR)
 著者        Jansen A, Andermann E
 タイトル      Genetics of the polymicrogyria syndromes.
 雑誌        J Med Genet 42:369-78 (2005)
 DOI:10.1136/jmg.2004.023952
 PMID:24598713 (BTOP)
 著者        Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E
 タイトル      Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
 雑誌        Neurology 82:1068-75 (2014)
 DOI:10.1212/WNL.0000000000000241
 PMID:25855803 (PMGYCHA)
 著者        Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U
 タイトル      Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
 雑誌        Hum Mol Genet 24:3732-41 (2015)
 DOI:10.1093/hmg/ddv117
 PMID:28742248 (PMGEDSV)
 著者        Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U
 タイトル      Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
 雑誌        Am J Med Genet A 173:2534-2538 (2017)
 DOI:10.1002/ajmg.a.38345","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00271"">H00271</a>","多小脳回
 下位グループ    両側前頭頭頂多小脳回 (BFPP)
 常染色体劣性遺伝性両側シルビウス裂周囲多小脳回 (BPPR)
 両側後頭側頭多小脳回 (BTOP)
 小脳低形成と関節拘縮を伴うシルビウス裂周囲多小脳回 (PMGYCHA)
 血管型 EDS を伴う多小脳回 (PMGEDSV)
 上位グループ    神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]",Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.,,"(BFPP/BFPR) ADGRG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9289"">9289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08450"">K08450</a>]
 (BTOP) FIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9896"">9896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22913"">K22913</a>]
 (PMGYCHA) PI4KA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5297"">5297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00888"">K00888</a>]
 (PMGEDSV) COL3A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1281"">1281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19720"">K19720</a>]",,,,,,"ICD-11: LA05.50
 ICD-10: Q04.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054220"">D054220</a>
 OMIM: <a href=""https://www.omim.org/entry/606854"">606854</a> <a href=""https://www.omim.org/entry/615752"">615752</a> <a href=""https://www.omim.org/entry/612691"">612691</a> <a href=""https://www.omim.org/entry/616531"">616531</a> <a href=""https://www.omim.org/entry/618343"">618343</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18262290"">18262290</a>
 著者        Guerrini R, Dobyns WB, Barkovich AJ
 タイトル      Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
 雑誌        Trends Neurosci 31:154-62 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.tins.2007.12.004"">10.1016/j.tins.2007.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15863665"">15863665</a> (BFPP/ <a href=""https://pubmed.ncbi.nlm.nih.gov/BFPR)"">BFPR)</a>
 著者        Jansen A, Andermann E
 タイトル      Genetics of the polymicrogyria syndromes.
 雑誌        J Med Genet 42:369-78 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.023952"">10.1136/jmg.2004.023952</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24598713"">24598713</a> (BTOP)
 著者        Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E
 タイトル      Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
 雑誌        Neurology 82:1068-75 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000241"">10.1212/WNL.0000000000000241</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25855803"">25855803</a> (PMGYCHA)
 著者        Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U
 タイトル      Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
 雑誌        Hum Mol Genet 24:3732-41 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv117"">10.1093/hmg/ddv117</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28742248"">28742248</a> (PMGEDSV)
 著者        Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U
 タイトル      Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
 雑誌        Am J Med Genet A 173:2534-2538 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38345"">10.1002/ajmg.a.38345</a>"
H00272,マルチプルスルファターゼ欠損症,,,"Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile cases.",先天性代謝異常症; リソソーム蓄積症,,SUMF1 [HSA:285362] [KO:K13444],,,,,,"ICD-11: 5C56.02
 ICD-10: E75.2
 MeSH: D052517
 OMIM: 272200","PMID:18157819
 著者        Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
 タイトル      Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
 雑誌        Hum Mutat 29:205 (2008)
 DOI:10.1002/humu.9515
 PMID:12757705
 著者        Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K
 タイトル      Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
 雑誌        Cell 113:435-44 (2003)
 DOI:10.1016/S0092-8674(03)00347-7
 PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353
 PMID:19124046
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:10.1016/j.bbamcr.2008.11.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00272"">H00272</a>",マルチプルスルファターゼ欠損症,"Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00127]."">H00127].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical"">clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:course"">course</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ranges"">ranges</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neonatal"">neonatal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:severe"">severe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mild"">mild</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:juvenile"">juvenile</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cases."">cases.</a>",,"SUMF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285362"">285362</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13444"">K13444</a>]",,,,,,"ICD-11: 5C56.02
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052517"">D052517</a>
 OMIM: <a href=""https://www.omim.org/entry/272200"">272200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18157819"">18157819</a>
 著者        Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
 タイトル      Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
 雑誌        Hum Mutat 29:205 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.9515"">10.1002/humu.9515</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12757705"">12757705</a>
 著者        Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K
 タイトル      Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
 雑誌        Cell 113:435-44 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(03)00347-7"">10.1016/S0092-8674(03)00347-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19124046"">19124046</a>
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2008.11.015"">10.1016/j.bbamcr.2008.11.015</a>"
H00273,"濃化異骨症
 上位グループ    リソソーム-システインプロテアーゼ異常疾患 [DS:H00425]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis is characterized by short stature, osteosclerosis, acroosteolysis, separated cranial sutures with open fontanelles, bone fragility, and loss of mandibular angle.",先天性代謝異常症; リソソーム蓄積症,,CTSK [HSA:1513] [KO:K01371],,,,,It is suggested that cathepsin K plays an important role in the immune system.,"ICD-11: 5C56.Y
 ICD-10: E88.9
 MeSH: D058631
 OMIM: 265800","PMID:8703060
 著者        Gelb BD, Shi GP, Chapman HA, Desnick RJ
 タイトル      Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
 雑誌        Science 273:1236-8 (1996)
 DOI:10.1126/science.273.5279.1236
 PMID:14756243
 著者        Goto T, Yamaza T, Tanaka T
 タイトル      Cathepsins in the osteoclast.
 雑誌        J Electron Microsc (Tokyo) 52:551-8 (2003)
 DOI:10.1093/jmicro/52.6.551
 PMID:19338743
 著者        Zhao Q, Jia Y, Xiao Y
 タイトル      Cathepsin K: a therapeutic target for bone diseases.
 雑誌        Biochem Biophys Res Commun 380:721-3 (2009)
 DOI:10.1016/j.bbrc.2009.01.139
 PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353
 PMID:18239127 (immune system)
 著者        Asagiri M, Hirai T, Kunigami T, Kamano S, Gober HJ, Okamoto K, Nishikawa K, Latz E, Golenbock DT, Aoki K, Ohya K, Imai Y, Morishita Y, Miyazono K, Kato S, Saftig P, Takayanagi H
 タイトル      Cathepsin K-dependent toll-like receptor 9 signaling revealed in experimental arthritis.
 雑誌        Science 319:624-7 (2008)
 DOI:10.1126/science.1150110","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00273"">H00273</a>","濃化異骨症
 上位グループ    リソソーム-システインプロテアーゼ異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00425"">H00425</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis is characterized by short stature, osteosclerosis, acroosteolysis, separated cranial sutures with open fontanelles, bone fragility, and loss of mandibular angle.",,"CTSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1513"">1513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01371"">K01371</a>]",,,,,It is suggested that cathepsin K plays an important role in the immune system.,"ICD-11: 5C56.Y
 ICD-10: E88.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058631"">D058631</a>
 OMIM: <a href=""https://www.omim.org/entry/265800"">265800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8703060"">8703060</a>
 著者        Gelb BD, Shi GP, Chapman HA, Desnick RJ
 タイトル      Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
 雑誌        Science 273:1236-8 (1996)
 DOI:<a href=""https://doi.org/10.1126/science.273.5279.1236"">10.1126/science.273.5279.1236</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14756243"">14756243</a>
 著者        Goto T, Yamaza T, Tanaka T
 タイトル      Cathepsins in the osteoclast.
 雑誌        J Electron Microsc (Tokyo) 52:551-8 (2003)
 DOI:<a href=""https://doi.org/10.1093/jmicro/52.6.551"">10.1093/jmicro/52.6.551</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19338743"">19338743</a>
 著者        Zhao Q, Jia Y, Xiao Y
 タイトル      Cathepsin K: a therapeutic target for bone diseases.
 雑誌        Biochem Biophys Res Commun 380:721-3 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2009.01.139"">10.1016/j.bbrc.2009.01.139</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18239127"">18239127</a> (immune <a href=""https://pubmed.ncbi.nlm.nih.gov/system)"">system)</a>
 著者        Asagiri M, Hirai T, Kunigami T, Kamano S, Gober HJ, Okamoto K, Nishikawa K, Latz E, Golenbock DT, Aoki K, Ohya K, Imai Y, Morishita Y, Miyazono K, Kato S, Saftig P, Takayanagi H
 タイトル      Cathepsin K-dependent toll-like receptor 9 signaling revealed in experimental arthritis.
 雑誌        Science 319:624-7 (2008)
 DOI:<a href=""https://doi.org/10.1126/science.1150110"">10.1126/science.1150110</a>"
H00274,"パピヨン・ルフェブル症候群
 上位グループ    リソソーム-システインプロテアーゼ異常疾患 [DS:H00425]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis.",先天性代謝異常症; 先天奇形,,CTSC [HSA:1075] [KO:K01275],,,,,,"ICD-11: 5C56.Y EC20.30
 ICD-10: Q82.8
 MeSH: D010214
 OMIM: 245000","PMID:12509601
 著者        Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A
 タイトル      Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association.
 雑誌        Pediatrics 111:e85-8 (2003)
 DOI:10.1542/peds.111.1.e85
 PMID:18401176
 著者        Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
 タイトル      Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
 雑誌        Dermatology 217:58-62 (2008)
 DOI:10.1159/000124340
 PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00274"">H00274</a>","パピヨン・ルフェブル症候群
 上位グループ    リソソーム-システインプロテアーゼ異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00425"">H00425</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis.",,"CTSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1075"">1075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01275"">K01275</a>]",,,,,,"ICD-11: 5C56.Y EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010214"">D010214</a>
 OMIM: <a href=""https://www.omim.org/entry/245000"">245000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12509601"">12509601</a>
 著者        Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A
 タイトル      Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association.
 雑誌        Pediatrics 111:e85-8 (2003)
 DOI:<a href=""https://doi.org/10.1542/peds.111.1.e85"">10.1542/peds.111.1.e85</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18401176"">18401176</a>
 著者        Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
 タイトル      Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
 雑誌        Dermatology 217:58-62 (2008)
 DOI:<a href=""https://doi.org/10.1159/000124340"">10.1159/000124340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>"
H00275,"シスチン症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.",先天性代謝異常症; リソソーム蓄積症,,CTNS [HSA:1497] [KO:K12386],,,,システアミン酒石酸塩 [DR:D10468],,"ICD-11: 5C60.1
 ICD-10: E72.0
 MeSH: D003554
 OMIM: 219800 219900 219750","PMID:932205
 著者        Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA
 タイトル      Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.
 雑誌        J Clin Invest 58:180-9 (1976)
 DOI:10.1172/JCI108448
 PMID:15500372 (drug)
 著者        Kleta R, Gahl WA
 タイトル      Pharmacological treatment of nephropathic cystinosis with cysteamine.
 雑誌        Expert Opin Pharmacother 5:2255-62 (2004)
 DOI:10.1517/14656566.5.11.2255
 PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00275"">H00275</a>","シスチン症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth and maintenance of renal glomerular function.",,"CTNS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1497"">1497</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12386"">K12386</a>]",,,,"システアミン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10468"">D10468</a>]",,"ICD-11: 5C60.1
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003554"">D003554</a>
 OMIM: <a href=""https://www.omim.org/entry/219800"">219800</a> <a href=""https://www.omim.org/entry/219900"">219900</a> <a href=""https://www.omim.org/entry/219750"">219750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/932205"">932205</a>
 著者        Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA
 タイトル      Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.
 雑誌        J Clin Invest 58:180-9 (1976)
 DOI:<a href=""https://doi.org/10.1172/JCI108448"">10.1172/JCI108448</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15500372"">15500372</a> (drug)
 著者        Kleta R, Gahl WA
 タイトル      Pharmacological treatment of nephropathic cystinosis with cysteamine.
 雑誌        Expert Opin Pharmacother 5:2255-62 (2004)
 DOI:<a href=""https://doi.org/10.1517/14656566.5.11.2255"">10.1517/14656566.5.11.2255</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>"
H00276,"ガラクトシアリドーシス;
 ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症
 上位グループ    糖タンパク分解反応異常症 [DS:H00422]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase [DS:H00142].,先天性代謝異常症; リソソーム蓄積症,,CTSA [HSA:5476] [KO:K13289],,,,,,"ICD-11: 5C56.21
 ICD-10: E75.1
 MeSH: C536411
 OMIM: 256540","PMID:19097920
 著者        Darin N, Kyllerman M, Hard AL, Nordborg C, Mansson JE
 タイトル      Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.
 雑誌        Eur J Paediatr Neurol 13:553-5 (2009)
 DOI:10.1016/j.ejpn.2008.11.003
 PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00276"">H00276</a>","ガラクトシアリドーシス;
 ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症
 上位グループ    糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00281"">H00281</a>] and alpha-neuraminidase [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00142]."">H00142].</a>",,"CTSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5476"">5476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13289"">K13289</a>]",,,,,,"ICD-11: 5C56.21
 ICD-10: E75.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536411"">C536411</a>
 OMIM: <a href=""https://www.omim.org/entry/256540"">256540</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19097920"">19097920</a>
 著者        Darin N, Kyllerman M, Hard AL, Nordborg C, Mansson JE
 タイトル      Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.
 雑誌        Eur J Paediatr Neurol 13:553-5 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2008.11.003"">10.1016/j.ejpn.2008.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>"
H00277,腸管出血性大腸菌感染症,,,"Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred to as verocytotoxin producing E. coli (VTEC) or Shiga toxin producing E. coli (STEC). The serotype O157:H7 is first associated with human disease after a multistate outbreak in the United States in 1982 involving contaminated hamburgers.",感染症,"nt06121  TLR signaling (viruses and bacteria)
 nt06123  TNF signaling (viruses and bacteria)
 nt06125  Membrane trafficking (bacteria)
 nt06131  Apoptosis (viruses and bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06139  NLR signaling (viruses and bacteria)",,"Escherichia coli O157:H7 [GN:ece ecs ecf etw elx]
 Escherichia coli O26:H11 [GN:eoj]
 Escherichia coli O111:H- [GN:eoi]
 Escherichia coli O103:H2 [GN:eoh]
 Escherichia coli O104:H4 [GN:esl eso esm]
 Escherichia coli O145:H28 [GN:ecoo ecoh]
 モジュール     M00542  EHEC/EPEC pathogenicity signature, T3SS and effectors
 M00363  EHEC pathogenicity signature, Shiga toxin",,,,,"ICD-11: 1A03.3
 ICD-10: A04.3
 MeSH: D004927","PMID:17890332
 著者        Baker DR, Moxley RA, Steele MB, Lejeune JT, Christopher-Hennings J, Chen DG, Hardwidge PR, Francis DH
 タイトル      Differences in virulence among Escherichia coli O157:H7 strains isolated from humans during disease outbreaks and from healthy cattle.
 雑誌        Appl Environ Microbiol 73:7338-46 (2007)
 DOI:10.1128/AEM.00755-07
 PMID:23133618
 著者        Ahmed SA, Awosika J, Baldwin C, Bishop-Lilly KA, Biswas B, Broomall S, Chain PS, Chertkov O, Chokoshvili O, Coyne S, Davenport K, Detter JC, Dorman W, Erkkila TH, Folster JP, Frey KG, George M, Gleasner C, Henry M, Hill KK, Hubbard K, Insalaco J, Johnson S, Kitzmiller A, Krepps M, Lo CC, Luu T, McNew LA, Minogue T, Munk CA, Osborne B, Patel M, Reitenga KG, Rosenzweig CN, Shea A, Shen X, Strockbine N, Tarr C, Teshima H, van Gieson E, Verratti K, Wolcott M, Xie G, Sozhamannan S, Gibbons HS
 タイトル      Genomic comparison of Escherichia coli O104:H4 isolates from 2009 and 2011 reveals plasmid, and prophage heterogeneity, including shiga toxin encoding phage stx2.
 雑誌        PLoS One 7:e48228 (2012)
 DOI:10.1371/journal.pone.0048228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00277"">H00277</a>",腸管出血性大腸菌感染症,"Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred to as verocytotoxin producing E. coli (VTEC) or Shiga toxin producing E. coli (STEC). The serotype O157:H7 is first associated with human disease after a multistate outbreak in the United States in 1982 involving contaminated hamburgers.","<a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06125"">nt06125</a>  Membrane trafficking (bacteria)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06139"">nt06139</a>  NLR signaling (viruses and bacteria)",,"Escherichia coli O157:H7 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ece"">ece</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecs"">ecs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecf"">ecf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:etw"">etw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elx"">elx</a>]
 Escherichia coli O26:H11 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eoj"">eoj</a>]
 Escherichia coli O111:H- [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eoi"">eoi</a>]
 Escherichia coli O103:H2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eoh"">eoh</a>]
 Escherichia coli O104:H4 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:esl"">esl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eso"">eso</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:esm"">esm</a>]
 Escherichia coli O145:H28 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecoo"">ecoo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecoh"">ecoh</a>]
 モジュール     M00542  EHEC/EPEC pathogenicity signature, T3SS and effectors
 M00363  EHEC pathogenicity signature, Shiga toxin",,,,,"ICD-11: 1A03.3
 ICD-10: A04.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004927"">D004927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17890332"">17890332</a>
 著者        Baker DR, Moxley RA, Steele MB, Lejeune JT, Christopher-Hennings J, Chen DG, Hardwidge PR, Francis DH
 タイトル      Differences in virulence among Escherichia coli O157:H7 strains isolated from humans during disease outbreaks and from healthy cattle.
 雑誌        Appl Environ Microbiol 73:7338-46 (2007)
 DOI:<a href=""https://doi.org/10.1128/AEM.00755-07"">10.1128/AEM.00755-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23133618"">23133618</a>
 著者        Ahmed SA, Awosika J, Baldwin C, Bishop-Lilly KA, Biswas B, Broomall S, Chain PS, Chertkov O, Chokoshvili O, Coyne S, Davenport K, Detter JC, Dorman W, Erkkila TH, Folster JP, Frey KG, George M, Gleasner C, Henry M, Hill KK, Hubbard K, Insalaco J, Johnson S, Kitzmiller A, Krepps M, Lo CC, Luu T, McNew LA, Minogue T, Munk CA, Osborne B, Patel M, Reitenga KG, Rosenzweig CN, Shea A, Shen X, Strockbine N, Tarr C, Teshima H, van Gieson E, Verratti K, Wolcott M, Xie G, Sozhamannan S, Gibbons HS
 タイトル      Genomic comparison of Escherichia coli O104:H4 isolates from 2009 and 2011 reveals plasmid, and prophage heterogeneity, including shiga toxin encoding phage stx2.
 雑誌        PLoS One 7:e48228 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0048228"">10.1371/journal.pone.0048228</a>"
H00278,腸管病原性大腸菌感染症,,,"Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:H00277] strains are characterized by the type III secretion system and its cognate effectors encoded in the locus of enterocyte effacement (LEE), but EPEC does not release diffusible toxins.",感染症,,,"Escherichia coli O127:H6 [GN:ecg]
 Escherichia coli O55:H7 [GN:eok elr]
 モジュール     M00542  EHEC/EPEC pathogenicity signature, T3SS and effectors",,,,,"ICD-11: 1A03.0
 ICD-10: A04.0
 MeSH: D004927","PMID:18455741
 著者        Ochoa TJ, Barletta F, Contreras C, Mercado E
 タイトル      New insights into the epidemiology of enteropathogenic Escherichia coli infection.
 雑誌        Trans R Soc Trop Med Hyg 102:852-6 (2008)
 DOI:10.1016/j.trstmh.2008.03.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00278"">H00278</a>",腸管病原性大腸菌感染症,"Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00277"">H00277</a>] strains are characterized by the type III secretion system and its cognate effectors encoded in the locus of enterocyte effacement (LEE), but EPEC does not release diffusible toxins.",,,"Escherichia coli O127:H6 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecg"">ecg</a>]
 Escherichia coli O55:H7 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eok"">eok</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elr"">elr</a>]
 モジュール     M00542  EHEC/EPEC pathogenicity signature, T3SS and effectors",,,,,"ICD-11: 1A03.0
 ICD-10: A04.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004927"">D004927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18455741"">18455741</a>
 著者        Ochoa TJ, Barletta F, Contreras C, Mercado E
 タイトル      New insights into the epidemiology of enteropathogenic Escherichia coli infection.
 雑誌        Trans R Soc Trop Med Hyg 102:852-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.trstmh.2008.03.017"">10.1016/j.trstmh.2008.03.017</a>"
H00279,尿路病原性大腸菌感染症,,,"Uropathogenic Escherichia coli (UPEC) infection is a prevalent infectious disease with potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections (UTIs), accounts for >80% of UTI infections worldwide. Once inside the urinary tract, UPEC preferentially colonizes the bladder and causes cystitis, but can also ascend through the ureters into the kidneys, causing pyelonephritis.",感染症,,,"Escherichia coli (UPEC) [GN:ecp ena ecos eum ect eci ecc ecoj]
 pore-forming toxin [KO:K11003 K11004 K11005]",,,,,"ICD-11: GC08.0
 ICD-10: N39
 MeSH: D004927","PMID:9551528
 著者        Matsumoto T
 タイトル      [Virulence factors and host responses in urinary tract infections].
 雑誌        J UOEH 20:45-60 (1998)
 DOI:10.7888/juoeh.20.45
 PMID:16100859 (drug)
 著者        Mehnert-Kay SA
 タイトル      Diagnosis and management of uncomplicated urinary tract infections.
 雑誌        Am Fam Physician 72:451-6 (2005)
 PMID:16406777
 著者        Svanborg C, Bergsten G, Fischer H, Godaly G, Gustafsson M, Karpman D, Lundstedt AC, Ragnarsdottir B, Svensson M, Wullt B
 タイトル      Uropathogenic Escherichia coli as a model of host-parasite interaction.
 雑誌        Curr Opin Microbiol 9:33-9 (2006)
 DOI:10.1016/j.mib.2005.12.012
 PMID:17458672
 著者        Yamamoto S
 タイトル      Molecular epidemiology of uropathogenic Escherichia coli.
 雑誌        J Infect Chemother 13:68-73 (2007)
 DOI:10.1007/s10156-007-0506-y
 PMID:18482721
 著者        Wiles TJ, Kulesus RR, Mulvey MA
 タイトル      Origins and virulence mechanisms of uropathogenic Escherichia coli.
 雑誌        Exp Mol Pathol 85:11-9 (2008)
 DOI:10.1016/j.yexmp.2008.03.007
 PMID:18616559
 著者        Dhakal BK, Kulesus RR, Mulvey MA
 タイトル      Mechanisms and consequences of bladder cell invasion by uropathogenic Escherichia coli.
 雑誌        Eur J Clin Invest 38 Suppl 2:2-11 (2008)
 DOI:10.1111/j.1365-2362.2008.01986.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00279"">H00279</a>",尿路病原性大腸菌感染症,"Uropathogenic Escherichia coli (UPEC) infection is a prevalent infectious disease with potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections (UTIs), accounts for >80% of UTI infections worldwide. Once inside the urinary tract, UPEC preferentially colonizes the bladder and causes cystitis, but can also ascend through the ureters into the kidneys, causing pyelonephritis.",,,"Escherichia coli (UPEC) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecp"">ecp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ena"">ena</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecos"">ecos</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eum"">eum</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ect"">ect</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eci"">eci</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecc"">ecc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecoj"">ecoj</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11003"">K11003</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11004"">K11004</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11005"">K11005</a>]",,,,,"ICD-11: GC08.0
 ICD-10: N39
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004927"">D004927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9551528"">9551528</a>
 著者        Matsumoto T
 タイトル      [Virulence factors and host responses in urinary tract infections].
 雑誌        J UOEH 20:45-60 (1998)
 DOI:<a href=""https://doi.org/10.7888/juoeh.20.45"">10.7888/juoeh.20.45</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16100859"">16100859</a> (drug)
 著者        Mehnert-Kay SA
 タイトル      Diagnosis and management of uncomplicated urinary tract infections.
 雑誌        Am Fam Physician 72:451-6 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16406777"">16406777</a>
 著者        Svanborg C, Bergsten G, Fischer H, Godaly G, Gustafsson M, Karpman D, Lundstedt AC, Ragnarsdottir B, Svensson M, Wullt B
 タイトル      Uropathogenic Escherichia coli as a model of host-parasite interaction.
 雑誌        Curr Opin Microbiol 9:33-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.mib.2005.12.012"">10.1016/j.mib.2005.12.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17458672"">17458672</a>
 著者        Yamamoto S
 タイトル      Molecular epidemiology of uropathogenic Escherichia coli.
 雑誌        J Infect Chemother 13:68-73 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10156-007-0506-y"">10.1007/s10156-007-0506-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18482721"">18482721</a>
 著者        Wiles TJ, Kulesus RR, Mulvey MA
 タイトル      Origins and virulence mechanisms of uropathogenic Escherichia coli.
 雑誌        Exp Mol Pathol 85:11-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.yexmp.2008.03.007"">10.1016/j.yexmp.2008.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18616559"">18616559</a>
 著者        Dhakal BK, Kulesus RR, Mulvey MA
 タイトル      Mechanisms and consequences of bladder cell invasion by uropathogenic Escherichia coli.
 雑誌        Eur J Clin Invest 38 Suppl 2:2-11 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2362.2008.01986.x"">10.1111/j.1365-2362.2008.01986.x</a>"
H00280,腸管毒素原性大腸菌感染症,,,"Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize the small intestine, secrete heat-labile (cholera toxin-like) and heat-stable enterotoxins, and cause watery diarrhea.",感染症,,,"Escherichia coli O78:H11 [GN:elh]
 Escherichia coli O139:H28 [GN:ecw]
 モジュール     M00853  ETEC pathogenicity signature, colonization factors
 M00576  ETEC pathogenicity signature, heat-labile and heat-stable enterotoxins",,,,,"ICD-11: 1A03.1
 ICD-10: A04.1
 MeSH: D004927","PMID:16020685
 著者        Qadri F, Svennerholm AM, Faruque AS, Sack RB
 タイトル      Enterotoxigenic Escherichia coli in developing countries: epidemiology, microbiology, clinical features, treatment, and prevention.
 雑誌        Clin Microbiol Rev 18:465-83 (2005)
 DOI:10.1128/CMR.18.3.465-483.2005
 PMID:16958845
 著者        Turner SM, Scott-Tucker A, Cooper LM, Henderson IR
 タイトル      Weapons of mass destruction: virulence factors of the global killer enterotoxigenic Escherichia coli.
 雑誌        FEMS Microbiol Lett 263:10-20 (2006)
 DOI:10.1111/j.1574-6968.2006.00401.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00280"">H00280</a>",腸管毒素原性大腸菌感染症,"Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize the small intestine, secrete heat-labile (cholera toxin-like) and heat-stable enterotoxins, and cause watery diarrhea.",,,"Escherichia coli O78:H11 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elh"">elh</a>]
 Escherichia coli O139:H28 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecw"">ecw</a>]
 モジュール     M00853  ETEC pathogenicity signature, colonization factors
 M00576  ETEC pathogenicity signature, heat-labile and heat-stable enterotoxins",,,,,"ICD-11: 1A03.1
 ICD-10: A04.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004927"">D004927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16020685"">16020685</a>
 著者        Qadri F, Svennerholm AM, Faruque AS, Sack RB
 タイトル      Enterotoxigenic Escherichia coli in developing countries: epidemiology, microbiology, clinical features, treatment, and prevention.
 雑誌        Clin Microbiol Rev 18:465-83 (2005)
 DOI:<a href=""https://doi.org/10.1128/CMR.18.3.465-483.2005"">10.1128/CMR.18.3.465-483.2005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16958845"">16958845</a>
 著者        Turner SM, Scott-Tucker A, Cooper LM, Henderson IR
 タイトル      Weapons of mass destruction: virulence factors of the global killer enterotoxigenic Escherichia coli.
 雑誌        FEMS Microbiol Lett 263:10-20 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1574-6968.2006.00401.x"">10.1111/j.1574-6968.2006.00401.x</a>"
H00281,"GM1 ガングリオシドーシス
 上位グループ    ガングリオシドーシス [DS:H00426]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase.",先天性代謝異常症; リソソーム蓄積症,,GLB1 [HSA:2720] [KO:K12309],,,,,"Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, H00123). Morquio syndrome B is characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal.","ICD-11: 5C56.00
 ICD-10: E75.1
 MeSH: D016537
 OMIM: 230500 230600 230650","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:19472408
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:10.1002/humu.21031
 PMID:18202827
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:10.1007/s00018-008-7470-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00281"">H00281</a>","GM1 ガングリオシドーシス
 上位グループ    ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase.",,"GLB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]",,,,,"Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00123)."">H00123).</a> Morquio syndrome B is characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal.","ICD-11: 5C56.00
 ICD-10: E75.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016537"">D016537</a>
 OMIM: <a href=""https://www.omim.org/entry/230500"">230500</a> <a href=""https://www.omim.org/entry/230600"">230600</a> <a href=""https://www.omim.org/entry/230650"">230650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19472408"">19472408</a>
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21031"">10.1002/humu.21031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202827"">18202827</a>
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00018-008-7470-2"">10.1007/s00018-008-7470-2</a>"
H00282,"クリオピリン関連周期熱症候群
 下位グループ    マックル-ウェルズ症候群 [DS:H02555]
 家族性寒冷自己炎症症候群 [DS:H02159]
 CINCA症候群 [DS:H02556]",,,"Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production of IL-1beta.",免疫系疾患,,NLRP3 [HSA:114548] [KO:K12800],,Exposure to cold (FCAS),,カナキヌマブ [DR:D09315],,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: D056587
 OMIM: 191900 120100 607115","PMID:14476827
 著者        MUCKLE TJ, WELLSM
 タイトル      Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.
 雑誌        Q J Med 31:235-48 (1962)
 PMID:11687797
 著者        Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD
 タイトル      Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
 雑誌        Nat Genet 29:301-5 (2001)
 DOI:10.1038/ng756
 PMID:12483741
 著者        Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R
 タイトル      De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
 雑誌        Arthritis Rheum 46:3340-8 (2002)
 DOI:10.1002/art.10688
 PMID:14630794
 著者        Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G
 タイトル      Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
 雑誌        Blood 103:2809-15 (2004)
 DOI:10.1182/blood-2003-07-2531
 PMID:18665151
 著者        Neven B, Prieur AM, Quartier dit Maire P
 タイトル      Cryopyrinopathies: update on pathogenesis and treatment.
 雑誌        Nat Clin Pract Rheumatol 4:481-9 (2008)
 DOI:10.1038/ncprheum0874
 PMID:11590390
 著者        Hoffman HM, Wanderer AA, Broide DH
 タイトル      Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
 雑誌        J Allergy Clin Immunol 108:615-20 (2001)
 DOI:10.1067/mai.2001.118790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00282"">H00282</a>","クリオピリン関連周期熱症候群
 下位グループ    マックル-ウェルズ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02555"">H02555</a>]
 家族性寒冷自己炎症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02159"">H02159</a>]
 CINCA症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02556"">H02556</a>]","Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production of IL-1beta.",,"NLRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]",,Exposure to cold (FCAS),,"カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]",,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056587"">D056587</a>
 OMIM: <a href=""https://www.omim.org/entry/191900"">191900</a> <a href=""https://www.omim.org/entry/120100"">120100</a> <a href=""https://www.omim.org/entry/607115"">607115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14476827"">14476827</a>
 著者        MUCKLE TJ, WELLSM
 タイトル      Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.
 雑誌        Q J Med 31:235-48 (1962)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11687797"">11687797</a>
 著者        Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD
 タイトル      Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
 雑誌        Nat Genet 29:301-5 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng756"">10.1038/ng756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12483741"">12483741</a>
 著者        Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R
 タイトル      De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
 雑誌        Arthritis Rheum 46:3340-8 (2002)
 DOI:<a href=""https://doi.org/10.1002/art.10688"">10.1002/art.10688</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14630794"">14630794</a>
 著者        Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G
 タイトル      Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
 雑誌        Blood 103:2809-15 (2004)
 DOI:<a href=""https://doi.org/10.1182/blood-2003-07-2531"">10.1182/blood-2003-07-2531</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18665151"">18665151</a>
 著者        Neven B, Prieur AM, Quartier dit Maire P
 タイトル      Cryopyrinopathies: update on pathogenesis and treatment.
 雑誌        Nat Clin Pract Rheumatol 4:481-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncprheum0874"">10.1038/ncprheum0874</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11590390"">11590390</a>
 著者        Hoffman HM, Wanderer AA, Broide DH
 タイトル      Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
 雑誌        J Allergy Clin Immunol 108:615-20 (2001)
 DOI:<a href=""https://doi.org/10.1067/mai.2001.118790"">10.1067/mai.2001.118790</a>"
H00283,"エボラ出血熱;
 エボラ病",,,"Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are known to cause Ebola, and a related virus in Filoviridae causes Marburg disease. The first ebolavirus was discovered in 1976 in South Sudan.",感染症,,,"Zaire ebolavirus [GN:T40012] (Zaire, 1976)
 Sudan ebolavirus [GN:T40014] (Sudan, 1976)
 Tai Forest ebolavirus [GN:T40125] (Cote d'Ivoire, 1994)
 Bundibugyo virus [GN:T40121] (Uganda, 2007)",,,,,"ICD-11: 1D60.0
 ICD-10: A98.4
 MeSH: D019142
 MedlinePlus: 001339","PMID:21084112
 著者        Feldmann H, Geisbert TW
 タイトル      Ebola haemorrhagic fever.
 雑誌        Lancet 377:849-62 (2011)
 DOI:10.1016/S0140-6736(10)60667-8
 PMID:12000905
 著者        Bruce J, Brysiewicz P
 タイトル      Ebola fever: the African emergency.
 雑誌        Int J Trauma Nurs 8:36-41 (2002)
 DOI:10.1067/mtn.2002.123083","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00283"">H00283</a>","エボラ出血熱;
 エボラ病","Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are known to cause Ebola, and a related virus in Filoviridae causes Marburg disease. The first ebolavirus was discovered in 1976 in South Sudan.",,,"Zaire ebolavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40012"">T40012</a>] (Zaire, 1976)
 Sudan ebolavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40014"">T40014</a>] (Sudan, 1976)
 Tai Forest ebolavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40125"">T40125</a>] (Cote d'Ivoire, 1994)
 Bundibugyo virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40121"">T40121</a>] (Uganda, 2007)",,,,,"ICD-11: 1D60.0
 ICD-10: A98.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019142"">D019142</a>
 MedlinePlus: 001339","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21084112"">21084112</a>
 著者        Feldmann H, Geisbert TW
 タイトル      Ebola haemorrhagic fever.
 雑誌        Lancet 377:849-62 (2011)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)60667-8"">10.1016/S0140-6736(10)60667-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12000905"">12000905</a>
 著者        Bruce J, Brysiewicz P
 タイトル      Ebola fever: the African emergency.
 雑誌        Int J Trauma Nurs 8:36-41 (2002)
 DOI:<a href=""https://doi.org/10.1067/mtn.2002.123083"">10.1067/mtn.2002.123083</a>"
H00284,"クリミア・コンゴ出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ticks. The diseases first recognized in the 1940s in Crimia and then in the 1950s and 1960s in Congo were the same, because the isolated viruses were the same.",感染症,,,Crimean-Congo hemorrhagic fever virus [GN:T40011],,,,,"ICD-11: 1D49
 ICD-10: A98.0
 MeSH: D006479","PMID:16554245
 著者        Ergonul O
 タイトル      Crimean-Congo haemorrhagic fever.
 雑誌        Lancet Infect Dis 6:203-14 (2006)
 DOI:10.1016/S1473-3099(06)70435-2
 PMID:21362441
 著者        Keshtkar-Jahromi M, Kuhn JH, Christova I, Bradfute SB, Jahrling PB, Bavari S
 タイトル      Crimean-Congo hemorrhagic fever: current and future prospects of vaccines and therapies.
 雑誌        Antiviral Res 90:85-92 (2011)
 DOI:10.1016/j.antiviral.2011.02.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00284"">H00284</a>","クリミア・コンゴ出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ticks. The diseases first recognized in the 1940s in Crimia and then in the 1950s and 1960s in Congo were the same, because the isolated viruses were the same.",,,"Crimean-Congo hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40011"">T40011</a>]",,,,,"ICD-11: 1D49
 ICD-10: A98.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006479"">D006479</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16554245"">16554245</a>
 著者        Ergonul O
 タイトル      Crimean-Congo haemorrhagic fever.
 雑誌        Lancet Infect Dis 6:203-14 (2006)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(06)70435-2"">10.1016/S1473-3099(06)70435-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21362441"">21362441</a>
 著者        Keshtkar-Jahromi M, Kuhn JH, Christova I, Bradfute SB, Jahrling PB, Bavari S
 タイトル      Crimean-Congo hemorrhagic fever: current and future prospects of vaccines and therapies.
 雑誌        Antiviral Res 90:85-92 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2011.02.010"">10.1016/j.antiviral.2011.02.010</a>"
H00285,ブラウ症候群,,,"Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.",免疫系疾患,,NOD2 [HSA:64127] [KO:K10165],,,,,,"ICD-11: 4A60.Y
 MeSH: C538157
 OMIM: 186580","PMID:4056967
 著者        Blau EB
 タイトル      Familial granulomatous arthritis, iritis, and rash.
 雑誌        J Pediatr 107:689-93 (1985)
 DOI:10.1016/S0022-3476(85)80394-2
 PMID:11528384
 著者        Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP
 タイトル      CARD15 mutations in Blau syndrome.
 雑誌        Nat Genet 29:19-20 (2001)
 DOI:10.1038/ng720
 PMID:18718560
 著者        Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A
 タイトル      Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
 雑誌        Autoimmun Rev 8:228-32 (2009)
 DOI:10.1016/j.autrev.2008.07.034","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00285"">H00285</a>",ブラウ症候群,"Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.",,"NOD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64127"">64127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10165"">K10165</a>]",,,,,,"ICD-11: 4A60.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538157"">C538157</a>
 OMIM: <a href=""https://www.omim.org/entry/186580"">186580</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4056967"">4056967</a>
 著者        Blau EB
 タイトル      Familial granulomatous arthritis, iritis, and rash.
 雑誌        J Pediatr 107:689-93 (1985)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(85)80394-2"">10.1016/S0022-3476(85)80394-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11528384"">11528384</a>
 著者        Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP
 タイトル      CARD15 mutations in Blau syndrome.
 雑誌        Nat Genet 29:19-20 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng720"">10.1038/ng720</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18718560"">18718560</a>
 著者        Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A
 タイトル      Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
 雑誌        Autoimmun Rev 8:228-32 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2008.07.034"">10.1016/j.autrev.2008.07.034</a>"
H00286,"クローン病
 上位グループ    炎症性腸疾患 (IBD) [DS:H01227]",,,"Crohn disease is a chronic, relapsing inflammatory bowel disease characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified.",免疫系疾患,,"NOD2 [HSA:64127] [KO:K10165]
 SLC22A4 (polymorphism) [HSA:6583] [KO:K08202]
 SLC22A5 (polymorphism) [HSA:6584] [KO:K08202]
 TNFSF15 (polymorphism) [HSA:9966] [KO:K05478]
 IL23R (polymorphism) [HSA:149233] [KO:K05065]
 ATG16L1 (polymorphism) [HSA:55054] [KO:K17890]
 IRGM (polymorphism) [HSA:345611] [KO:K14139]
 IL10RB [HSA:3588] [KO:K05135]
 IL10RA [HSA:3587] [KO:K05134]",,"Infectious diseases
 Food preferences
 病原体         Mycobacterium avium subsp. paratuberculosis [GN:mao]
 Escherichia coli (AIEC) [GN:eln elu elf]",,"ブデソニド [DR:D00246]
 メサラジン [DR:D00377]
 ベドリズマブ [DR:D08083]
 インフリキシマブ [DR:D02598]
 アダリムマブ [DR:D02597]
 ウステキヌマブ [DR:D09214]
 アザチオプリン [DR:D00238]",The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese.,"ICD-11: DD70
 ICD-10: K50
 MeSH: D003424
 OMIM: 266600 612261 611081 612567 613148 612278","PMID:11385577
 著者        Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH
 タイトル      A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
 雑誌        Nature 411:603-6 (2001)
 DOI:10.1038/35079114
 PMID:15107849
 著者        Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA
 タイトル      Functional variants of OCTN cation transporter genes are associated with Crohn disease.
 雑誌        Nat Genet 36:471-5 (2004)
 DOI:10.1038/ng1339
 PMID:16221758
 著者        Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Cardon L, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M, Nakamura Y
 タイトル      Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
 雑誌        Hum Mol Genet 14:3499-506 (2005)
 DOI:10.1093/hmg/ddi379
 PMID:17068223
 著者        Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
 タイトル      A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
 雑誌        Science 314:1461-3 (2006)
 DOI:10.1126/science.1135245
 PMID:17200669
 著者        Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Gunther S, Prescott NJ, Onnie CM, Hasler R, Sipos B, Folsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S
 タイトル      A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
 雑誌        Nat Genet 39:207-11 (2007)
 DOI:10.1038/ng1954
 PMID:12843021 (env_factor)
 著者        Bull TJ, McMinn EJ, Sidi-Boumedine K, Skull A, Durkin D, Neild P, Rhodes G, Pickup R, Hermon-Taylor J
 タイトル      Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease.
 雑誌        J Clin Microbiol 41:2915-23 (2003)
 DOI:10.1128/JCM.41.7.2915-2923.2003
 PMID:19923578 (drug)
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:10.1056/NEJMra0804647","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00286"">H00286</a>","クローン病
 上位グループ    炎症性腸疾患 (IBD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01227"">H01227</a>]","Crohn disease is a chronic, relapsing inflammatory bowel disease characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified.",,"NOD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64127"">64127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10165"">K10165</a>]
 SLC22A4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6583"">6583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08202"">K08202</a>]
 SLC22A5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6584"">6584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08202"">K08202</a>]
 TNFSF15 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9966"">9966</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05478"">K05478</a>]
 IL23R (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149233"">149233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05065"">K05065</a>]
 ATG16L1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55054"">55054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17890"">K17890</a>]
 IRGM (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345611"">345611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14139"">K14139</a>]
 IL10RB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3588"">3588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05135"">K05135</a>]
 IL10RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3587"">3587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05134"">K05134</a>]",,"Infectious diseases
 Food preferences
 病原体         Mycobacterium avium subsp. paratuberculosis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mao"">mao</a>]
 Escherichia coli (AIEC) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eln"">eln</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elu"">elu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elf"">elf</a>]",,"ブデソニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00246"">D00246</a>]
 メサラジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00377"">D00377</a>]
 ベドリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08083"">D08083</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 ウステキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09214"">D09214</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]",The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese.,"ICD-11: DD70
 ICD-10: K50
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003424"">D003424</a>
 OMIM: <a href=""https://www.omim.org/entry/266600"">266600</a> <a href=""https://www.omim.org/entry/612261"">612261</a> <a href=""https://www.omim.org/entry/611081"">611081</a> <a href=""https://www.omim.org/entry/612567"">612567</a> <a href=""https://www.omim.org/entry/613148"">613148</a> <a href=""https://www.omim.org/entry/612278"">612278</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11385577"">11385577</a>
 著者        Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH
 タイトル      A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
 雑誌        Nature 411:603-6 (2001)
 DOI:<a href=""https://doi.org/10.1038/35079114"">10.1038/35079114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15107849"">15107849</a>
 著者        Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA
 タイトル      Functional variants of OCTN cation transporter genes are associated with Crohn disease.
 雑誌        Nat Genet 36:471-5 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1339"">10.1038/ng1339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16221758"">16221758</a>
 著者        Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Cardon L, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M, Nakamura Y
 タイトル      Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
 雑誌        Hum Mol Genet 14:3499-506 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi379"">10.1093/hmg/ddi379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17068223"">17068223</a>
 著者        Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
 タイトル      A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
 雑誌        Science 314:1461-3 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1135245"">10.1126/science.1135245</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17200669"">17200669</a>
 著者        Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Gunther S, Prescott NJ, Onnie CM, Hasler R, Sipos B, Folsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S
 タイトル      A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
 雑誌        Nat Genet 39:207-11 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1954"">10.1038/ng1954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12843021"">12843021</a> (env_factor)
 著者        Bull TJ, McMinn EJ, Sidi-Boumedine K, Skull A, Durkin D, Neild P, Rhodes G, Pickup R, Hermon-Taylor J
 タイトル      Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease.
 雑誌        J Clin Microbiol 41:2915-23 (2003)
 DOI:<a href=""https://doi.org/10.1128/JCM.41.7.2915-2923.2003"">10.1128/JCM.41.7.2915-2923.2003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19923578"">19923578</a> (drug)
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0804647"">10.1056/NEJMra0804647</a>"
H00287,化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群,,,"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating with pyrin. Mutated PSTPIP1 reduces the inhibitory role of pyrin on inflammasome activation and therefore, potentiates the IL-1beta pathway. Elevated TNFalpha levels are also described.",免疫系疾患,,PSTPIP1 [HSA:9051] [KO:K12804],,,,,,"ICD-11: 4A60.Y
 MeSH: C536253
 OMIM: 604416","PMID:9212761
 著者        Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT
 タイトル      A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
 雑誌        Mayo Clin Proc 72:611-5 (1997)
 DOI:10.1016/S0025-6196(11)63565-9
 PMID:19290936
 著者        Veillette A, Rhee I, Souza CM, Davidson D
 タイトル      PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders.
 雑誌        Immunol Rev 228:312-24 (2009)
 DOI:10.1111/j.1600-065X.2008.00747.x
 PMID:11971877
 著者        Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M
 タイトル      Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
 雑誌        Hum Mol Genet 11:961-9 (2002)
 DOI:10.1093/hmg/11.8.961","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00287"">H00287</a>",化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群,"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating with pyrin. Mutated PSTPIP1 reduces the inhibitory role of pyrin on inflammasome activation and therefore, potentiates the IL-1beta pathway. Elevated TNFalpha levels are also described.",,"PSTPIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9051"">9051</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12804"">K12804</a>]",,,,,,"ICD-11: 4A60.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536253"">C536253</a>
 OMIM: <a href=""https://www.omim.org/entry/604416"">604416</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9212761"">9212761</a>
 著者        Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT
 タイトル      A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
 雑誌        Mayo Clin Proc 72:611-5 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0025-6196(11)63565-9"">10.1016/S0025-6196(11)63565-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19290936"">19290936</a>
 著者        Veillette A, Rhee I, Souza CM, Davidson D
 タイトル      PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders.
 雑誌        Immunol Rev 228:312-24 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1600-065X.2008.00747.x"">10.1111/j.1600-065X.2008.00747.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11971877"">11971877</a>
 著者        Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M
 タイトル      Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
 雑誌        Hum Mol Genet 11:961-9 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.8.961"">10.1093/hmg/11.8.961</a>"
H00288,家族性地中海熱,,,"Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases.",免疫系疾患,,"MEFV [HSA:4210] [KO:K12803]
 MICA (polymorphism) [HSA:100507436] [KO:K07985]",,,,"コルヒチン [DR:D00570]
 カナキヌマブ [DR:D09315]",{Alpha}/{alpha} genotype of SAA1 [HSA:6288] is a risk factor for amyloidosis.,"ICD-11: 4A60.0
 ICD-10: E85.0
 MeSH: D010505
 OMIM: 249100 134610","PMID:19339884 (gene, drug)
 著者        Guz G, Kanbay M, Ozturk MA
 タイトル      Current perspectives on familial Mediterranean fever.
 雑誌        Curr Opin Infect Dis 22:309-15 (2009)
 DOI:10.1097/QCO.0b013e328329d15e
 PMID:11464238
 著者        Touitou I
 タイトル      The spectrum of Familial Mediterranean Fever (FMF) mutations.
 雑誌        Eur J Hum Genet 9:473-83 (2001)
 DOI:10.1038/sj.ejhg.5200658
 PMID:17911435 (gene, drug)
 著者        Bhat A, Naguwa SM, Gershwin ME
 タイトル      Genetics and new treatment modalities for familial Mediterranean fever.
 雑誌        Ann N Y Acad Sci 1110:201-8 (2007)
 DOI:10.1196/annals.1423.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00288"">H00288</a>",家族性地中海熱,"Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases.",,"MEFV [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4210"">4210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12803"">K12803</a>]
 MICA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100507436"">100507436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07985"">K07985</a>]",,,,"コルヒチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00570"">D00570</a>]
 カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]","{Alpha}/{alpha} genotype of SAA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6288"">6288</a>] is a risk factor for amyloidosis.","ICD-11: 4A60.0
 ICD-10: E85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010505"">D010505</a>
 OMIM: <a href=""https://www.omim.org/entry/249100"">249100</a> <a href=""https://www.omim.org/entry/134610"">134610</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19339884"">19339884</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Guz G, Kanbay M, Ozturk MA
 タイトル      Current perspectives on familial Mediterranean fever.
 雑誌        Curr Opin Infect Dis 22:309-15 (2009)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e328329d15e"">10.1097/QCO.0b013e328329d15e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11464238"">11464238</a>
 著者        Touitou I
 タイトル      The spectrum of Familial Mediterranean Fever (FMF) mutations.
 雑誌        Eur J Hum Genet 9:473-83 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200658"">10.1038/sj.ejhg.5200658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17911435"">17911435</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Bhat A, Naguwa SM, Gershwin ME
 タイトル      Genetics and new treatment modalities for familial Mediterranean fever.
 雑誌        Ann N Y Acad Sci 1110:201-8 (2007)
 DOI:<a href=""https://doi.org/10.1196/annals.1423.022"">10.1196/annals.1423.022</a>"
H00289,反復性胞状奇胎,,,"Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways.",生殖系疾患,,"(HYDM) NALP7 [HSA:199713] [KO:K20864]
 (HYDM2) KHDC3L [HSA:154288] [KO:K25076]
 (HYDM3) MEI1 [HSA:150365] [KO:K25318]
 (HYDM4) C11orf80 [HSA:79703] [KO:K24789]",,,,エトポシド [DR:D00125],,"ICD-11: JA02
 ICD-10: O01
 MeSH: D006828
 OMIM: 231090 614293 618431 618432","PMID:16501554
 著者        Bestor TH, Bourc'his D
 タイトル      Genetics and epigenetics of hydatidiform moles.
 雑誌        Nat Genet 38:274-6 (2006)
 DOI:10.1038/ng0306-274
 PMID:16462743 (NALP7)
 著者        Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R
 タイトル      Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
 雑誌        Nat Genet 38:300-2 (2006)
 DOI:10.1038/ng1740
 PMID:23232697 (KHDC3L)
 著者        Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R
 タイトル      Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
 雑誌        Eur J Hum Genet 21:957-64 (2013)
 DOI:10.1038/ejhg.2012.274
 PMID:30388401 (MEI1, C11orf80)
 著者        Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R
 タイトル      Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
 雑誌        Am J Hum Genet 103:740-751 (2018)
 DOI:10.1016/j.ajhg.2018.10.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00289"">H00289</a>",反復性胞状奇胎,"Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways.",,"(HYDM) NALP7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199713"">199713</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20864"">K20864</a>]
 (HYDM2) KHDC3L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154288"">154288</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25076"">K25076</a>]
 (HYDM3) MEI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:150365"">150365</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25318"">K25318</a>]
 (HYDM4) C11orf80 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79703"">79703</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24789"">K24789</a>]",,,,"エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]",,"ICD-11: JA02
 ICD-10: O01
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006828"">D006828</a>
 OMIM: <a href=""https://www.omim.org/entry/231090"">231090</a> <a href=""https://www.omim.org/entry/614293"">614293</a> <a href=""https://www.omim.org/entry/618431"">618431</a> <a href=""https://www.omim.org/entry/618432"">618432</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16501554"">16501554</a>
 著者        Bestor TH, Bourc'his D
 タイトル      Genetics and epigenetics of hydatidiform moles.
 雑誌        Nat Genet 38:274-6 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng0306-274"">10.1038/ng0306-274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16462743"">16462743</a> (NALP7)
 著者        Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R
 タイトル      Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
 雑誌        Nat Genet 38:300-2 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1740"">10.1038/ng1740</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23232697"">23232697</a> (KHDC3L)
 著者        Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R
 タイトル      Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
 雑誌        Eur J Hum Genet 21:957-64 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.274"">10.1038/ejhg.2012.274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30388401"">30388401</a> (MEI1, <a href=""https://pubmed.ncbi.nlm.nih.gov/C11orf80)"">C11orf80)</a>
 著者        Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R
 タイトル      Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
 雑誌        Am J Hum Genet 103:740-751 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.007"">10.1016/j.ajhg.2018.10.007</a>"
H00290,アイカルディ・グチエール症候群,,,"Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid IFNalpha. There is progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism.",免疫系疾患,,"(AGS1) TREX1 [HSA:11277] [KO:K10790]
 (AGS2) RNASEH2B [HSA:79621] [KO:K10744]
 (AGS3) RNASEH2C [HSA:84153] [KO:K10745]
 (AGS4) RNASEH2A [HSA:10535] [KO:K10743]
 (AGS5) SAMHD1 [HSA:25939] [KO:K22544]
 (AGS6) ADAR [HSA:103] [KO:K12968]
 (AGS7) IFIH1 [HSA:64135] [KO:K12647]
 (AGS8) LSM11 [HSA:134353] [KO:K25592]
 (AGS9) RNU7-1 [HSA:100147744]",,,,,,"ICD-11: 5C55.2 8A2Y
 ICD-10: G31.8
 MeSH: C535607
 OMIM: 225750 610181 610329 610333 612952 615010 615846 619486 619487","PMID:18343173
 著者        Stephenson JB
 タイトル      Aicardi-Goutieres syndrome (AGS).
 雑誌        Eur J Paediatr Neurol 12:355-8 (2008)
 DOI:10.1016/j.ejpn.2007.11.010
 PMID:19442247 (TREX1)
 著者        Lindahl T, Barnes DE, Yang YG, Robins P
 タイトル      Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.
 雑誌        Biochem Soc Trans 37:535-8 (2009)
 DOI:10.1042/BST0370535
 PMID:19525956 (SAMHD1)
 著者        Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ
 タイトル      Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
 雑誌        Nat Genet 41:829-32 (2009)
 DOI:10.1038/ng.373
 PMID:19015152 (RNASEH2A, RNASEH2B, RNASEH2C)
 著者        Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM
 タイトル      Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
 雑誌        Nucleic Acids Res 37:96-110 (2009)
 DOI:10.1093/nar/gkn913
 PMID:25243380 (ADAR, IFIH1, RNASEH2B)
 著者        Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI
 タイトル      Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
 雑誌        Neuropediatrics 45:386-93 (2014)
 DOI:10.1055/s-0034-1389161
 PMID:33230297 (LSM11, RNU7-1)
 著者        Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ
 タイトル      cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
 雑誌        Nat Genet 52:1364-1372 (2020)
 DOI:10.1038/s41588-020-00737-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00290"">H00290</a>",アイカルディ・グチエール症候群,"Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid IFNalpha. There is progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism.",,"(AGS1) TREX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11277"">11277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10790"">K10790</a>]
 (AGS2) RNASEH2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79621"">79621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10744"">K10744</a>]
 (AGS3) RNASEH2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84153"">84153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10745"">K10745</a>]
 (AGS4) RNASEH2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10535"">10535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10743"">K10743</a>]
 (AGS5) SAMHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25939"">25939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22544"">K22544</a>]
 (AGS6) ADAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:103"">103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12968"">K12968</a>]
 (AGS7) IFIH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64135"">64135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12647"">K12647</a>]
 (AGS8) LSM11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:134353"">134353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25592"">K25592</a>]
 (AGS9) RNU7-1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100147744"">100147744</a>]",,,,,,"ICD-11: 5C55.2 8A2Y
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535607"">C535607</a>
 OMIM: <a href=""https://www.omim.org/entry/225750"">225750</a> <a href=""https://www.omim.org/entry/610181"">610181</a> <a href=""https://www.omim.org/entry/610329"">610329</a> <a href=""https://www.omim.org/entry/610333"">610333</a> <a href=""https://www.omim.org/entry/612952"">612952</a> <a href=""https://www.omim.org/entry/615010"">615010</a> <a href=""https://www.omim.org/entry/615846"">615846</a> <a href=""https://www.omim.org/entry/619486"">619486</a> <a href=""https://www.omim.org/entry/619487"">619487</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18343173"">18343173</a>
 著者        Stephenson JB
 タイトル      Aicardi-Goutieres syndrome (AGS).
 雑誌        Eur J Paediatr Neurol 12:355-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2007.11.010"">10.1016/j.ejpn.2007.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19442247"">19442247</a> (TREX1)
 著者        Lindahl T, Barnes DE, Yang YG, Robins P
 タイトル      Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.
 雑誌        Biochem Soc Trans 37:535-8 (2009)
 DOI:<a href=""https://doi.org/10.1042/BST0370535"">10.1042/BST0370535</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19525956"">19525956</a> (SAMHD1)
 著者        Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ
 タイトル      Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
 雑誌        Nat Genet 41:829-32 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.373"">10.1038/ng.373</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19015152"">19015152</a> (RNASEH2A, <a href=""https://pubmed.ncbi.nlm.nih.gov/RNASEH2B,"">RNASEH2B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RNASEH2C)"">RNASEH2C)</a>
 著者        Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM
 タイトル      Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
 雑誌        Nucleic Acids Res 37:96-110 (2009)
 DOI:<a href=""https://doi.org/10.1093/nar/gkn913"">10.1093/nar/gkn913</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25243380"">25243380</a> (ADAR, <a href=""https://pubmed.ncbi.nlm.nih.gov/IFIH1,"">IFIH1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RNASEH2B)"">RNASEH2B)</a>
 著者        Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI
 タイトル      Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
 雑誌        Neuropediatrics 45:386-93 (2014)
 DOI:<a href=""https://doi.org/10.1055/s-0034-1389161"">10.1055/s-0034-1389161</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33230297"">33230297</a> (LSM11, <a href=""https://pubmed.ncbi.nlm.nih.gov/RNU7-1)"">RNU7-1)</a>
 著者        Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ
 タイトル      cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
 雑誌        Nat Genet 52:1364-1372 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41588-020-00737-3"">10.1038/s41588-020-00737-3</a>"
H00291,家族性凍傷状狼瘡,,,"Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were described. The failure of DNA degradation can result in aberrant immune response.",免疫系疾患,,"(CHBL1) TREX1 [HSA:11277] [KO:K10790]
 (CHBL2) SAMHD1 [HSA:25939] [KO:K22544]",,cold and wet exposure,,,,"MeSH: C535924
 OMIM: 610448 614415","PMID:18543054
 著者        Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M
 タイトル      Chilblain lupus erythematosus--a review of literature.
 雑誌        Clin Rheumatol 27:949-54 (2008)
 DOI:10.1007/s10067-008-0942-9
 PMID:17440703 (TREX1)
 著者        Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N
 タイトル      A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
 雑誌        J Mol Med 85:531-7 (2007)
 DOI:10.1007/s00109-007-0199-9
 PMID:19478477 (TREX1)
 著者        Gunther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA
 タイトル      Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
 雑誌        Dermatology 219:162-6 (2009)
 DOI:10.1159/000222430
 PMID:21204240 (SAMHD1)
 著者        Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ
 タイトル      Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
 雑誌        Am J Med Genet A 155A:235-7 (2011)
 DOI:10.1002/ajmg.a.33778","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00291"">H00291</a>",家族性凍傷状狼瘡,"Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were described. The failure of DNA degradation can result in aberrant immune response.",,"(CHBL1) TREX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11277"">11277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10790"">K10790</a>]
 (CHBL2) SAMHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25939"">25939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22544"">K22544</a>]",,cold and wet exposure,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535924"">C535924</a>
 OMIM: <a href=""https://www.omim.org/entry/610448"">610448</a> <a href=""https://www.omim.org/entry/614415"">614415</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18543054"">18543054</a>
 著者        Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M
 タイトル      Chilblain lupus erythematosus--a review of literature.
 雑誌        Clin Rheumatol 27:949-54 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10067-008-0942-9"">10.1007/s10067-008-0942-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17440703"">17440703</a> (TREX1)
 著者        Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N
 タイトル      A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
 雑誌        J Mol Med 85:531-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00109-007-0199-9"">10.1007/s00109-007-0199-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19478477"">19478477</a> (TREX1)
 著者        Gunther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA
 タイトル      Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
 雑誌        Dermatology 219:162-6 (2009)
 DOI:<a href=""https://doi.org/10.1159/000222430"">10.1159/000222430</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21204240"">21204240</a> (SAMHD1)
 著者        Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ
 タイトル      Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
 雑誌        Am J Med Genet A 155A:235-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33778"">10.1002/ajmg.a.33778</a>"
H00292,肥大型心筋症,,,"Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.",心臓病,,"(CMH1) MYH7 [HSA:4625] [KO:K17751]
 (CMH1) MYLK2 [HSA:85366] [KO:K00907]
 (CMH1) CAV3 [HSA:859] [KO:K12959]
 (CMH2) TNNT2 [HSA:7139] [KO:K12045]
 (CMH3) TPM1 [HSA:7168] [KO:K10373]
 (CMH4) MYBPC3 [HSA:4607] [KO:K12568]
 (CMH6) PRKAG2 [HSA:51422] [KO:K07200]
 (CMH7) TNNI3 [HSA:7137] [KO:K12044]
 (CMH8) MYL3 [HSA:4634] [KO:K12749]
 (CMH9) TTN [HSA:7273] [KO:K12567]
 (CMH10) MYL2 [HSA:4633] [KO:K10351]
 (CMH11) ACTC1 [HSA:70] [KO:K12314]
 (CMH12) CSRP3 [HSA:8048] [KO:K09377]
 (CMH13) TNNC1 [HSA:7134] [KO:K05865]
 (CMH14) MYH6 [HSA:4624] [KO:K17751]
 (CMH15) VCL [HSA:7414] [KO:K05700]
 (CMH16) MYOZ2 [HSA:51778]
 (CMH17) JPH2 [HSA:57158] [KO:K19530]
 (CMH18) PLN [HSA:5350] [KO:K05852]
 (CMH20) NEXN [HSA:91624] [KO:K23918]
 (CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
 (CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
 (CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
 (CMH25) TCAP [HSA:8557] [KO:K19879]
 (CMH26) FLNC [HSA:2318] [KO:K04437]
 (CMH27) ALPK3 [HSA:57538] [KO:K08868]
 (CMH28) FHOD3 [HSA:80206] [KO:K23939]",,Athletic training,,アミオダロン塩酸塩 [DR:D00636],,"ICD-11: BC43.1
 ICD-10: I42
 OMIM: 192600 115195 115196 115197 600858 613690 608751 613765 608758 612098 612124 613243 613251 613255 613838 613873 613874 613876 615248 612158 601493 607487 617047 618052 619402","PMID:12270949
 著者        Fatkin D, Graham RM
 タイトル      Molecular mechanisms of inherited cardiomyopathies.
 雑誌        Physiol Rev 82:945-80 (2002)
 DOI:10.1152/physrev.00012.2002
 PMID:12844200
 著者        Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
 タイトル      Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
 雑誌        Cardiovasc J S Afr 14:145-55 (2003)
 PMID:11716909
 著者        Franz WM, Muller OJ, Katus HA
 タイトル      Cardiomyopathies: from genetics to the prospect of treatment.
 雑誌        Lancet 358:1627-37 (2001)
 DOI:10.1016/S0140-6736(01)06657-0
 PMID:11273720
 著者        Marian AJ, Roberts R
 タイトル      The molecular genetic basis for hypertrophic cardiomyopathy.
 雑誌        J Mol Cell Cardiol 33:655-70 (2001)
 DOI:10.1006/jmcc.2001.1340
 PMID:1975517 (MYH7)
 著者        Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG
 タイトル      A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
 雑誌        Cell 62:999-1006 (1990)
 DOI:10.1016/0092-8674(90)90274-i
 PMID:11733062 (MYLK2)
 著者        Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND
 タイトル      The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
 雑誌        Cell 107:631-41 (2001)
 DOI:10.1016/s0092-8674(01)00586-4
 PMID:14672715 (CAV3)
 著者        Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A
 タイトル      Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 313:178-84 (2004)
 DOI:10.1016/j.bbrc.2003.11.101
 PMID:8205619 (TNNT2 TPM1)
 著者        Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE
 タイトル      Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
 雑誌        Cell 77:701-12 (1994)
 DOI:10.1016/0092-8674(94)90054-x
 PMID:7493025 (MYBPC3)
 著者        Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE
 タイトル      Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
 雑誌        Nat Genet 11:434-7 (1995)
 DOI:10.1038/ng1295-434
 PMID:11371514 (PRKAG2)
 著者        Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H
 タイトル      Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
 雑誌        Hum Mol Genet 10:1215-20 (2001)
 DOI:10.1093/hmg/10.11.1215
 PMID:9241277 (TNNI3)
 著者        Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T
 タイトル      Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 16:379-82 (1997)
 DOI:10.1038/ng0897-379
 PMID:8673105 (MYL3 MYL2)
 著者        Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND
 タイトル      Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
 雑誌        Nat Genet 13:63-9 (1996)
 DOI:10.1038/ng0596-63
 PMID:10462489 (TTN)
 著者        Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A
 タイトル      Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
 雑誌        Biochem Biophys Res Commun 262:411-7 (1999)
 DOI:10.1006/bbrc.1999.1221
 PMID:10330430 (ACTC1)
 著者        Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD
 タイトル      Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
 雑誌        J Clin Invest 103:R39-43 (1999)
 DOI:10.1172/JCI6460
 PMID:12642359 (CSRP3)
 著者        Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Furst DO, Vornwald A, von Hodenberg E, Nurnberg P, Scheffold T, Dietz R, Osterziel KJ
 タイトル      Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
 雑誌        Circulation 107:1390-5 (2003)
 DOI:10.1161/01.cir.0000056522.82563.5f
 PMID:18572189 (TNNC1)
 著者        Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ
 タイトル      Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
 雑誌        J Mol Cell Cardiol 45:281-8 (2008)
 DOI:10.1016/j.yjmcc.2008.05.003
 PMID:11815426 (MYH6)
 著者        Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE
 タイトル      Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
 雑誌        Circulation 105:446-51 (2002)
 DOI:10.1161/hc0402.102990
 PMID:16712796 (VCL)
 著者        Vasile VC, Ommen SR, Edwards WD, Ackerman MJ
 タイトル      A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 345:998-1003 (2006)
 DOI:10.1016/j.bbrc.2006.04.151
 PMID:22987565 (MYOZ2)
 著者        Ruggiero A, Chen SN, Lombardi R, Rodriguez G, Marian AJ
 タイトル      Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.
 雑誌        Cardiovasc Res 97:44-54 (2013)
 DOI:10.1093/cvr/cvs294
 PMID:17509612 (JPH2)
 著者        Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ
 タイトル      Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
 雑誌        J Mol Cell Cardiol 42:1026-35 (2007)
 DOI:10.1016/j.yjmcc.2007.04.006
 PMID:21167350 (PLN)
 著者        Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ
 タイトル      PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
 雑誌        Am Heart J 161:165-71 (2011)
 DOI:10.1016/j.ahj.2010.08.001
 PMID:20970104 (NEXN)
 著者        Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y
 タイトル      Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
 雑誌        Am J Hum Genet 87:687-93 (2010)
 DOI:10.1016/j.ajhg.2010.10.002
 PMID:22286171 (MYPN)
 著者        Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA
 タイトル      Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
 雑誌        Hum Mol Genet 21:2039-53 (2012)
 DOI:10.1093/hmg/dds022
 PMID:17097056 (ACTN2 LDB3)
 著者        Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ
 タイトル      Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 351:896-902 (2006)
 DOI:10.1016/j.bbrc.2006.10.119
 PMID:15582318 (TCAP)
 著者        Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
 タイトル      Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
 雑誌        J Am Coll Cardiol 44:2192-201 (2004)
 DOI:10.1016/j.jacc.2004.08.058
 PMID:25351925 (FLNC)
 著者        Valdes-Mas R, Gutierrez-Fernandez A, Gomez J, Coto E, Astudillo A, Puente DA, Reguero JR, Alvarez V, Moris C, Leon D, Martin M, Puente XS, Lopez-Otin C
 タイトル      Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
 雑誌        Nat Commun 5:5326 (2014)
 DOI:10.1038/ncomms6326
 PMID:28630369 (ALPK3)
 著者        Caglayan AO, Sezer RG, Kaymakcalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilguvar K, Gunel M
 タイトル      ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001859 (2017)
 DOI:10.1101/mcs.a001859
 PMID:30442288 (FHOD3)
 著者        Ochoa JP, Sabater-Molina M, Garcia-Pinilla JM, Mogensen J, Restrepo-Cordoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Pena-Pena ML, Garcia-Granja PE, Rodriguez-Palomares JF, Cardenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Paves A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollon-Jimenez MV, Salazar-Mendiguchia J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Canamero ME, Lamounier A Jr, Perez Ruiz JM, Climent-Paya V, Perez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Reparaz-Andrade A, Marin-Iglesias R, Rodriguez-Vilela A, Sandin-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-Garcia M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, Garcia-Pavia P, Elliott PM, Gimeno JR, Monserrat L
 タイトル      Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
 雑誌        J Am Coll Cardiol 72:2457-2467 (2018)
 DOI:10.1016/j.jacc.2018.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00292"">H00292</a>",肥大型心筋症,"Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.",,"(CMH1) MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (CMH1) MYLK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85366"">85366</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00907"">K00907</a>]
 (CMH1) CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]
 (CMH2) TNNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7139"">7139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12045"">K12045</a>]
 (CMH3) TPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7168"">7168</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10373"">K10373</a>]
 (CMH4) MYBPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4607"">4607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12568"">K12568</a>]
 (CMH6) PRKAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51422"">51422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07200"">K07200</a>]
 (CMH7) TNNI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7137"">7137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12044"">K12044</a>]
 (CMH8) MYL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4634"">4634</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12749"">K12749</a>]
 (CMH9) TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]
 (CMH10) MYL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4633"">4633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10351"">K10351</a>]
 (CMH11) ACTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:70"">70</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12314"">K12314</a>]
 (CMH12) CSRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8048"">8048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09377"">K09377</a>]
 (CMH13) TNNC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7134"">7134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05865"">K05865</a>]
 (CMH14) MYH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4624"">4624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (CMH15) VCL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7414"">7414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05700"">K05700</a>]
 (CMH16) MYOZ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51778"">51778</a>]
 (CMH17) JPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57158"">57158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19530"">K19530</a>]
 (CMH18) PLN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5350"">5350</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05852"">K05852</a>]
 (CMH20) NEXN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91624"">91624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23918"">K23918</a>]
 (CMD1KK/CMH22) MYPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84665"">84665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22028"">K22028</a>]
 (CMD1AA/CMH23) ACTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:88"">88</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21073"">K21073</a>]
 (CMD1C/CMH24) LDB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11155"">11155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19867"">K19867</a>]
 (CMH25) TCAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8557"">8557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19879"">K19879</a>]
 (CMH26) FLNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2318"">2318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (CMH27) ALPK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57538"">57538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08868"">K08868</a>]
 (CMH28) FHOD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80206"">80206</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23939"">K23939</a>]",,Athletic training,,"アミオダロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00636"">D00636</a>]",,"ICD-11: BC43.1
 ICD-10: I42
 OMIM: <a href=""https://www.omim.org/entry/192600"">192600</a> <a href=""https://www.omim.org/entry/115195"">115195</a> <a href=""https://www.omim.org/entry/115196"">115196</a> <a href=""https://www.omim.org/entry/115197"">115197</a> <a href=""https://www.omim.org/entry/600858"">600858</a> <a href=""https://www.omim.org/entry/613690"">613690</a> <a href=""https://www.omim.org/entry/608751"">608751</a> <a href=""https://www.omim.org/entry/613765"">613765</a> <a href=""https://www.omim.org/entry/608758"">608758</a> <a href=""https://www.omim.org/entry/612098"">612098</a> <a href=""https://www.omim.org/entry/612124"">612124</a> <a href=""https://www.omim.org/entry/613243"">613243</a> <a href=""https://www.omim.org/entry/613251"">613251</a> <a href=""https://www.omim.org/entry/613255"">613255</a> <a href=""https://www.omim.org/entry/613838"">613838</a> <a href=""https://www.omim.org/entry/613873"">613873</a> <a href=""https://www.omim.org/entry/613874"">613874</a> <a href=""https://www.omim.org/entry/613876"">613876</a> <a href=""https://www.omim.org/entry/615248"">615248</a> <a href=""https://www.omim.org/entry/612158"">612158</a> <a href=""https://www.omim.org/entry/601493"">601493</a> <a href=""https://www.omim.org/entry/607487"">607487</a> <a href=""https://www.omim.org/entry/617047"">617047</a> <a href=""https://www.omim.org/entry/618052"">618052</a> <a href=""https://www.omim.org/entry/619402"">619402</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12270949"">12270949</a>
 著者        Fatkin D, Graham RM
 タイトル      Molecular mechanisms of inherited cardiomyopathies.
 雑誌        Physiol Rev 82:945-80 (2002)
 DOI:<a href=""https://doi.org/10.1152/physrev.00012.2002"">10.1152/physrev.00012.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12844200"">12844200</a>
 著者        Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
 タイトル      Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
 雑誌        Cardiovasc J S Afr 14:145-55 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11716909"">11716909</a>
 著者        Franz WM, Muller OJ, Katus HA
 タイトル      Cardiomyopathies: from genetics to the prospect of treatment.
 雑誌        Lancet 358:1627-37 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(01)06657-0"">10.1016/S0140-6736(01)06657-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11273720"">11273720</a>
 著者        Marian AJ, Roberts R
 タイトル      The molecular genetic basis for hypertrophic cardiomyopathy.
 雑誌        J Mol Cell Cardiol 33:655-70 (2001)
 DOI:<a href=""https://doi.org/10.1006/jmcc.2001.1340"">10.1006/jmcc.2001.1340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1975517"">1975517</a> (MYH7)
 著者        Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG
 タイトル      A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
 雑誌        Cell 62:999-1006 (1990)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(90)90274-i"">10.1016/0092-8674(90)90274-i</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11733062"">11733062</a> (MYLK2)
 著者        Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND
 タイトル      The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
 雑誌        Cell 107:631-41 (2001)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(01)00586-4"">10.1016/s0092-8674(01)00586-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14672715"">14672715</a> (CAV3)
 著者        Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A
 タイトル      Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 313:178-84 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2003.11.101"">10.1016/j.bbrc.2003.11.101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8205619"">8205619</a> (TNNT2 <a href=""https://pubmed.ncbi.nlm.nih.gov/TPM1)"">TPM1)</a>
 著者        Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE
 タイトル      Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
 雑誌        Cell 77:701-12 (1994)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(94)90054-x"">10.1016/0092-8674(94)90054-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493025"">7493025</a> (MYBPC3)
 著者        Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE
 タイトル      Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
 雑誌        Nat Genet 11:434-7 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-434"">10.1038/ng1295-434</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11371514"">11371514</a> (PRKAG2)
 著者        Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H
 タイトル      Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
 雑誌        Hum Mol Genet 10:1215-20 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.11.1215"">10.1093/hmg/10.11.1215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9241277"">9241277</a> (TNNI3)
 著者        Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T
 タイトル      Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 16:379-82 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0897-379"">10.1038/ng0897-379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8673105"">8673105</a> (MYL3 <a href=""https://pubmed.ncbi.nlm.nih.gov/MYL2)"">MYL2)</a>
 著者        Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND
 タイトル      Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
 雑誌        Nat Genet 13:63-9 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0596-63"">10.1038/ng0596-63</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10462489"">10462489</a> (TTN)
 著者        Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A
 タイトル      Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
 雑誌        Biochem Biophys Res Commun 262:411-7 (1999)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1999.1221"">10.1006/bbrc.1999.1221</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10330430"">10330430</a> (ACTC1)
 著者        Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD
 タイトル      Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
 雑誌        J Clin Invest 103:R39-43 (1999)
 DOI:<a href=""https://doi.org/10.1172/JCI6460"">10.1172/JCI6460</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12642359"">12642359</a> (CSRP3)
 著者        Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Furst DO, Vornwald A, von Hodenberg E, Nurnberg P, Scheffold T, Dietz R, Osterziel KJ
 タイトル      Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
 雑誌        Circulation 107:1390-5 (2003)
 DOI:<a href=""https://doi.org/10.1161/01.cir.0000056522.82563.5f"">10.1161/01.cir.0000056522.82563.5f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18572189"">18572189</a> (TNNC1)
 著者        Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ
 タイトル      Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
 雑誌        J Mol Cell Cardiol 45:281-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.yjmcc.2008.05.003"">10.1016/j.yjmcc.2008.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11815426"">11815426</a> (MYH6)
 著者        Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE
 タイトル      Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
 雑誌        Circulation 105:446-51 (2002)
 DOI:<a href=""https://doi.org/10.1161/hc0402.102990"">10.1161/hc0402.102990</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16712796"">16712796</a> (VCL)
 著者        Vasile VC, Ommen SR, Edwards WD, Ackerman MJ
 タイトル      A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 345:998-1003 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2006.04.151"">10.1016/j.bbrc.2006.04.151</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22987565"">22987565</a> (MYOZ2)
 著者        Ruggiero A, Chen SN, Lombardi R, Rodriguez G, Marian AJ
 タイトル      Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.
 雑誌        Cardiovasc Res 97:44-54 (2013)
 DOI:<a href=""https://doi.org/10.1093/cvr/cvs294"">10.1093/cvr/cvs294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17509612"">17509612</a> (JPH2)
 著者        Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ
 タイトル      Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
 雑誌        J Mol Cell Cardiol 42:1026-35 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yjmcc.2007.04.006"">10.1016/j.yjmcc.2007.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21167350"">21167350</a> (PLN)
 著者        Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ
 タイトル      PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
 雑誌        Am Heart J 161:165-71 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ahj.2010.08.001"">10.1016/j.ahj.2010.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20970104"">20970104</a> (NEXN)
 著者        Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y
 タイトル      Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
 雑誌        Am J Hum Genet 87:687-93 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.002"">10.1016/j.ajhg.2010.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22286171"">22286171</a> (MYPN)
 著者        Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA
 タイトル      Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
 雑誌        Hum Mol Genet 21:2039-53 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds022"">10.1093/hmg/dds022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17097056"">17097056</a> (ACTN2 <a href=""https://pubmed.ncbi.nlm.nih.gov/LDB3)"">LDB3)</a>
 著者        Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ
 タイトル      Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
 雑誌        Biochem Biophys Res Commun 351:896-902 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2006.10.119"">10.1016/j.bbrc.2006.10.119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15582318"">15582318</a> (TCAP)
 著者        Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
 タイトル      Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
 雑誌        J Am Coll Cardiol 44:2192-201 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2004.08.058"">10.1016/j.jacc.2004.08.058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25351925"">25351925</a> (FLNC)
 著者        Valdes-Mas R, Gutierrez-Fernandez A, Gomez J, Coto E, Astudillo A, Puente DA, Reguero JR, Alvarez V, Moris C, Leon D, Martin M, Puente XS, Lopez-Otin C
 タイトル      Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
 雑誌        Nat Commun 5:5326 (2014)
 DOI:<a href=""https://doi.org/10.1038/ncomms6326"">10.1038/ncomms6326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28630369"">28630369</a> (ALPK3)
 著者        Caglayan AO, Sezer RG, Kaymakcalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilguvar K, Gunel M
 タイトル      ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001859 (2017)
 DOI:<a href=""https://doi.org/10.1101/mcs.a001859"">10.1101/mcs.a001859</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30442288"">30442288</a> (FHOD3)
 著者        Ochoa JP, Sabater-Molina M, Garcia-Pinilla JM, Mogensen J, Restrepo-Cordoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Pena-Pena ML, Garcia-Granja PE, Rodriguez-Palomares JF, Cardenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Paves A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollon-Jimenez MV, Salazar-Mendiguchia J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Canamero ME, Lamounier A Jr, Perez Ruiz JM, Climent-Paya V, Perez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Reparaz-Andrade A, Marin-Iglesias R, Rodriguez-Vilela A, Sandin-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-Garcia M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, Garcia-Pavia P, Elliott PM, Gimeno JR, Monserrat L
 タイトル      Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
 雑誌        J Am Coll Cardiol 72:2457-2467 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2018.10.001"">10.1016/j.jacc.2018.10.001</a>"
H00293,不整脈源性右室心筋症,,,"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death.",心臓病,,"(ARVD1) TGFB3 [HSA:7043] [KO:K13377]
 (ARVD2) RYR2 [HSA:6262] [KO:K04962]
 (ARVD5) TMEM43 [HSA:79188]
 (ARVD8) DSP [HSA:1832] [KO:K10381]
 (ARVD9) PKP2 [HSA:5318] [KO:K12642]
 (ARVD10) DSG2 [HSA:1829] [KO:K07597]
 (ARVD11) DSC2 [HSA:1824] [KO:K07601]
 (ARVD12) JUP [HSA:3728] [KO:K10056]
 (ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
 (ARVD14) CDH2 [HSA:1000] [KO:K06736]",,,,,,"ICD-11: BC43.6
 ICD-10: I42
 OMIM: 107970 600996 604400 607450 609040 610193 610476 611528 615616 618920","PMID:18001465
 著者        Thiene G, Corrado D, Basso C
 タイトル      Arrhythmogenic right ventricular cardiomyopathy/dysplasia.
 雑誌        Orphanet J Rare Dis 2:45 (2007)
 DOI:10.1186/1750-1172-2-45
 PMID:17413274
 著者        van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD
 タイトル      Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?
 雑誌        Curr Opin Cardiol 22:185-92 (2007)
 DOI:10.1097/HCO.0b013e3280d942c4
 PMID:18382419
 著者        Awad MM, Calkins H, Judge DP
 タイトル      Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
 雑誌        Nat Clin Pract Cardiovasc Med 5:258-67 (2008)
 DOI:10.1038/ncpcardio1182
 PMID:22426942
 著者        Murray B
 タイトル      Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature.
 雑誌        J Genet Couns 21:494-504 (2012)
 DOI:10.1007/s10897-012-9497-7
 PMID:15639475 (TGFB3)
 著者        Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A
 タイトル      Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
 雑誌        Cardiovasc Res 65:366-73 (2005)
 DOI:10.1016/j.cardiores.2004.10.005
 PMID:11159936 (RYR2)
 著者        Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A
 タイトル      Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
 雑誌        Hum Mol Genet 10:189-94 (2001)
 DOI:10.1093/hmg/10.3.189
 PMID:18313022 (TMEM43)
 著者        Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
 タイトル      Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
 雑誌        Am J Hum Genet 82:809-21 (2008)
 DOI:10.1016/j.ajhg.2008.01.010
 PMID:12373648 (DSP)
 著者        Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA
 タイトル      Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Am J Hum Genet 71:1200-6 (2002)
 DOI:10.1086/344208
 PMID:15489853 (PKP2)
 著者        Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L
 タイトル      Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Nat Genet 36:1162-4 (2004)
 DOI:10.1038/ng1461
 PMID:16505173 (DSG2)
 著者        Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A
 タイトル      Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Circulation 113:1171-9 (2006)
 DOI:10.1161/CIRCULATIONAHA.105.583674
 PMID:17033975 (DSC2)
 著者        Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ
 タイトル      Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
 雑誌        Am J Hum Genet 79:978-84 (2006)
 DOI:10.1086/509122
 PMID:17924338 (JUP)
 著者        Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ
 タイトル      A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Am J Hum Genet 81:964-73 (2007)
 DOI:10.1086/521633
 PMID:23136403 (CTNNA3)
 著者        van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, Hulpiau P, van Hamme E, Zaglia T, Corrado D, Basso C, Thiene G, Daliento L, Nava A, van Roy F, Rampazzo A
 タイトル      Mutations in the area composita protein alphaT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Eur Heart J 34:201-10 (2013)
 DOI:10.1093/eurheartj/ehs373
 PMID:28280076 (CDH2)
 著者        Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L
 タイトル      Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.
 雑誌        Circ Cardiovasc Genet 10:e001605 (2017)
 DOI:10.1161/CIRCGENETICS.116.001605","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00293"">H00293</a>",不整脈源性右室心筋症,"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death.",,"(ARVD1) TGFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]
 (ARVD2) RYR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6262"">6262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04962"">K04962</a>]
 (ARVD5) TMEM43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79188"">79188</a>]
 (ARVD8) DSP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1832"">1832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10381"">K10381</a>]
 (ARVD9) PKP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5318"">5318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12642"">K12642</a>]
 (ARVD10) DSG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1829"">1829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07597"">K07597</a>]
 (ARVD11) DSC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1824"">1824</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07601"">K07601</a>]
 (ARVD12) JUP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3728"">3728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10056"">K10056</a>]
 (ARVD13) CTNNA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29119"">29119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05691"">K05691</a>]
 (ARVD14) CDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1000"">1000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06736"">K06736</a>]",,,,,,"ICD-11: BC43.6
 ICD-10: I42
 OMIM: <a href=""https://www.omim.org/entry/107970"">107970</a> <a href=""https://www.omim.org/entry/600996"">600996</a> <a href=""https://www.omim.org/entry/604400"">604400</a> <a href=""https://www.omim.org/entry/607450"">607450</a> <a href=""https://www.omim.org/entry/609040"">609040</a> <a href=""https://www.omim.org/entry/610193"">610193</a> <a href=""https://www.omim.org/entry/610476"">610476</a> <a href=""https://www.omim.org/entry/611528"">611528</a> <a href=""https://www.omim.org/entry/615616"">615616</a> <a href=""https://www.omim.org/entry/618920"">618920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18001465"">18001465</a>
 著者        Thiene G, Corrado D, Basso C
 タイトル      Arrhythmogenic right ventricular cardiomyopathy/dysplasia.
 雑誌        Orphanet J Rare Dis 2:45 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-45"">10.1186/1750-1172-2-45</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17413274"">17413274</a>
 著者        van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD
 タイトル      Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?
 雑誌        Curr Opin Cardiol 22:185-92 (2007)
 DOI:<a href=""https://doi.org/10.1097/HCO.0b013e3280d942c4"">10.1097/HCO.0b013e3280d942c4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18382419"">18382419</a>
 著者        Awad MM, Calkins H, Judge DP
 タイトル      Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
 雑誌        Nat Clin Pract Cardiovasc Med 5:258-67 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpcardio1182"">10.1038/ncpcardio1182</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22426942"">22426942</a>
 著者        Murray B
 タイトル      Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature.
 雑誌        J Genet Couns 21:494-504 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10897-012-9497-7"">10.1007/s10897-012-9497-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15639475"">15639475</a> (TGFB3)
 著者        Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A
 タイトル      Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
 雑誌        Cardiovasc Res 65:366-73 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.cardiores.2004.10.005"">10.1016/j.cardiores.2004.10.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11159936"">11159936</a> (RYR2)
 著者        Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A
 タイトル      Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
 雑誌        Hum Mol Genet 10:189-94 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.3.189"">10.1093/hmg/10.3.189</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18313022"">18313022</a> (TMEM43)
 著者        Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
 タイトル      Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
 雑誌        Am J Hum Genet 82:809-21 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.01.010"">10.1016/j.ajhg.2008.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12373648"">12373648</a> (DSP)
 著者        Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA
 タイトル      Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Am J Hum Genet 71:1200-6 (2002)
 DOI:<a href=""https://doi.org/10.1086/344208"">10.1086/344208</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489853"">15489853</a> (PKP2)
 著者        Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L
 タイトル      Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Nat Genet 36:1162-4 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1461"">10.1038/ng1461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16505173"">16505173</a> (DSG2)
 著者        Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A
 タイトル      Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Circulation 113:1171-9 (2006)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.105.583674"">10.1161/CIRCULATIONAHA.105.583674</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033975"">17033975</a> (DSC2)
 著者        Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ
 タイトル      Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
 雑誌        Am J Hum Genet 79:978-84 (2006)
 DOI:<a href=""https://doi.org/10.1086/509122"">10.1086/509122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924338"">17924338</a> (JUP)
 著者        Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ
 タイトル      A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Am J Hum Genet 81:964-73 (2007)
 DOI:<a href=""https://doi.org/10.1086/521633"">10.1086/521633</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23136403"">23136403</a> (CTNNA3)
 著者        van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, Hulpiau P, van Hamme E, Zaglia T, Corrado D, Basso C, Thiene G, Daliento L, Nava A, van Roy F, Rampazzo A
 タイトル      Mutations in the area composita protein alphaT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Eur Heart J 34:201-10 (2013)
 DOI:<a href=""https://doi.org/10.1093/eurheartj/ehs373"">10.1093/eurheartj/ehs373</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28280076"">28280076</a> (CDH2)
 著者        Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L
 タイトル      Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.
 雑誌        Circ Cardiovasc Genet 10:e001605 (2017)
 DOI:<a href=""https://doi.org/10.1161/CIRCGENETICS.116.001605"">10.1161/CIRCGENETICS.116.001605</a>"
H00294,"拡張型心筋症
 下位グループ    バース症候群 (BTHS) [DS:H00654]
 上位グループ    ジストロフィン異常症 [DS:H00562]",,,"Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM (""familial"" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of ""familial"" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an ""idiopathic"" DCM. Current hypotheses regarding causes of ""idiopathic"" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with ""idiopathic"" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.",循環器系疾患,,"(CMD1A) LMNA [HSA:4000] [KO:K12641]
 (CMD1B) DMD [HSA:1756] [KO:K10366]
 (CMD1C) LDB3 [HSA:11155] [KO:K19867]
 (CMD1D) TNNT2 [HSA:7139] [KO:K12045]
 (CMD1E) SCN5A [HSA:6331] [KO:K04838]
 (CMD1G) TTN [HSA:7273] [KO:K12567]
 (CMD1I) DES [HSA:1674] [KO:K07610]
 (CMD1J) EYA4 [HSA:2070] [KO:K17622]
 (CMD1L) SGCD [HSA:6444] [KO:K12563]
 (CMD1M) CSRP3 [HSA:8048] [KO:K09377]
 (CMD1N) TCAP [HSA:8557] [KO:K19879]
 (CMD1O) ABCC9 [HSA:10060] [KO:K05033]
 (CMD1P) PLN [HSA:5350] [KO:K05852]
 (CMD1R) ACTC1 [HSA:70] [KO:K12314]
 (CMD1S) MYH7 [HSA:4625] [KO:K17751]
 (CMD1T) TMPO [HSA:7112] [KO:K24031]
 (CMD1U) PSEN1 [HSA:5663] [KO:K04505]
 (CMD1V) PSEN2 [HSA:5664] [KO:K04522]
 (CMD1W) VCL [HSA:7414] [KO:K05700]
 (CMD1X) FKTN [HSA:2218] [KO:K19872]
 (CMD1Y) TPM1 [HSA:7168] [KO:K10373]
 (CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
 (CMD2A) TNNI3 [HSA:7137] [KO:K12044]
 (CMD2B) GATAD1 [HSA:57798] [KO:K23407]
 (CMD2C) PPCS [HSA:79717] [KO:K01922]
 (CMD2D) RPL3L [HSA:6123] [KO:K02925]
 (CMD2E) JPH2 [HSA:57158] [KO:K19530]
 (CMD1AA) ACTN2 [HSA:88] [KO:K21073]
 (CMD1BB) DSG2 [HSA:1829] [KO:K07597]
 (CMD1CC) NEXN [HSA:91624] [KO:K23918]
 (CMD1DD) RBM20 [HSA:282996] [KO:K24052]
 (CMD1EE) MYH6 [HSA:4624] [KO:K17751]
 (CMD1FF) TNNI3 [HSA:7137] [KO:K12044]
 (CMD1GG) SDHA [HSA:6389] [KO:K00234]
 (CMD1HH) BAG3 [HSA:9531] [KO:K09557]
 (CMD1II) CRYAB [HSA:1410] [KO:K09542]
 (CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
 (CMD1KK) MYPN [HSA:84665] [KO:K22028]
 (CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
 (CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
 (CMD1NN) RAF1 [HSA:5894] [KO:K04366]
 (BTHS) TAZ [HSA:6901] [KO:K13511]
 HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
 HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
 HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
 HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]",,"LPS [CPD:C00338]
 Ethanol [CPD:C00469]
 Anthracycline
 Low oxygen [CPD:C00007]",,"ビソプロロールフマル酸塩 [DR:D00634]
 カルベジロール [DR:D00255]",,"ICD-11: BC43.0
 ICD-10: I42
 OMIM: 115200 302045 601493 601494 601154 604145 604765 605362 606685 607482 608569 609909 613424 613426 613694 613697 611407 611615 611878 611879 611880 614672 618189 619371 619492 612158 613122 613172 613252 613286 613642 613881 615184 615235 615248 615396 615916 607487 612877 615373","PMID:12270949
 著者        Fatkin D, Graham RM
 タイトル      Molecular mechanisms of inherited cardiomyopathies.
 雑誌        Physiol Rev 82:945-80 (2002)
 DOI:10.1152/physrev.00012.2002
 PMID:12844200
 著者        Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
 タイトル      Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
 雑誌        Cardiovasc J S Afr 14:145-55 (2003)
 PMID:20864896
 著者        Hershberger RE, Morales A, Siegfried JD
 タイトル      Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
 雑誌        Genet Med 12:655-67 (2010)
 DOI:10.1097/GIM.0b013e3181f2481f
 PMID:20236114
 著者        Franciosi S
 タイトル      Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
 雑誌        Clin Genet 77:535-6 (2010)
 DOI:10.1111/j.1399-0004.2010.01396_1.x
 PMID:20551992
 著者        Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
 タイトル      Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
 雑誌        Eur J Hum Genet 18:1160-5 (2010)
 DOI:10.1038/ejhg.2010.83
 PMID:19015585
 著者        Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A
 タイトル      Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
 雑誌        Circ J 73:158-61 (2009)
 DOI:10.1253/circj.CJ-08-0722
 PMID:21965549
 著者        Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM
 タイトル      Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
 雑誌        Circ Cardiovasc Genet 4:585-94 (2011)
 DOI:10.1161/CIRCGENETICS.111.961052
 PMID:17646580
 著者        Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss HP, Schaper W, Schaper J, Bos E, Den Hertog J, van Eeden FJ, Peters PJ, Hasenfuss G, Chien KR, Bakkers J
 タイトル      Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
 雑誌        Circulation 116:515-25 (2007)
 DOI:10.1161/CIRCULATIONAHA.107.689984
 PMID:22892539
 著者        Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S
 タイトル      Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
 雑誌        Eur J Hum Genet 21:294-300 (2013)
 DOI:10.1038/ejhg.2012.173
 PMID:18678517
 著者        Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C
 タイトル      A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
 雑誌        Mol Genet Metab 95:74-80 (2008)
 DOI:10.1016/j.ymgme.2008.06.005
 PMID:23768516
 著者        Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
 タイトル      Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
 雑誌        Am J Hum Genet 93:67-77 (2013)
 DOI:10.1016/j.ajhg.2013.05.015
 PMID:32514796
 著者        Ganapathi M, Argyriou L, Martinez-Azorin F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorli-Garcia M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B
 タイトル      Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
 雑誌        Hum Genet 139:1443-1454 (2020)
 DOI:10.1007/s00439-020-02188-6
 PMID:31227780
 著者        Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP
 タイトル      Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
 雑誌        Sci Rep 9:9038 (2019)
 DOI:10.1038/s41598-019-44987-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00294"">H00294</a>","拡張型心筋症
 下位グループ    バース症候群 (BTHS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00654"">H00654</a>]
 上位グループ    ジストロフィン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00562"">H00562</a>]","Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM (""familial"" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of ""familial"" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an ""idiopathic"" DCM. Current hypotheses regarding causes of ""idiopathic"" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with ""idiopathic"" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.",,"(CMD1A) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (CMD1B) DMD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1756"">1756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10366"">K10366</a>]
 (CMD1C) LDB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11155"">11155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19867"">K19867</a>]
 (CMD1D) TNNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7139"">7139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12045"">K12045</a>]
 (CMD1E) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (CMD1G) TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]
 (CMD1I) DES [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1674"">1674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07610"">K07610</a>]
 (CMD1J) EYA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2070"">2070</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17622"">K17622</a>]
 (CMD1L) SGCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6444"">6444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12563"">K12563</a>]
 (CMD1M) CSRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8048"">8048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09377"">K09377</a>]
 (CMD1N) TCAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8557"">8557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19879"">K19879</a>]
 (CMD1O) ABCC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10060"">10060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05033"">K05033</a>]
 (CMD1P) PLN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5350"">5350</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05852"">K05852</a>]
 (CMD1R) ACTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:70"">70</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12314"">K12314</a>]
 (CMD1S) MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (CMD1T) TMPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7112"">7112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24031"">K24031</a>]
 (CMD1U) PSEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5663"">5663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04505"">K04505</a>]
 (CMD1V) PSEN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5664"">5664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04522"">K04522</a>]
 (CMD1W) VCL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7414"">7414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05700"">K05700</a>]
 (CMD1X) FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 (CMD1Y) TPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7168"">7168</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10373"">K10373</a>]
 (CMD1Z) TNNC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7134"">7134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05865"">K05865</a>]
 (CMD2A) TNNI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7137"">7137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12044"">K12044</a>]
 (CMD2B) GATAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57798"">57798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23407"">K23407</a>]
 (CMD2C) PPCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79717"">79717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01922"">K01922</a>]
 (CMD2D) RPL3L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6123"">6123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02925"">K02925</a>]
 (CMD2E) JPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57158"">57158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19530"">K19530</a>]
 (CMD1AA) ACTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:88"">88</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21073"">K21073</a>]
 (CMD1BB) DSG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1829"">1829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07597"">K07597</a>]
 (CMD1CC) NEXN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91624"">91624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23918"">K23918</a>]
 (CMD1DD) RBM20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:282996"">282996</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24052"">K24052</a>]
 (CMD1EE) MYH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4624"">4624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (CMD1FF) TNNI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7137"">7137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12044"">K12044</a>]
 (CMD1GG) SDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6389"">6389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00234"">K00234</a>]
 (CMD1HH) BAG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9531"">9531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09557"">K09557</a>]
 (CMD1II) CRYAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1410"">1410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09542"">K09542</a>]
 (CMD1JJ) LAMA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3910"">3910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06241"">K06241</a>]
 (CMD1KK) MYPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84665"">84665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22028"">K22028</a>]
 (CMD1LL) PRDM16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63976"">63976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22410"">K22410</a>]
 (CMD1MM) MYBPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4607"">4607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12568"">K12568</a>]
 (CMD1NN) RAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5894"">5894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04366"">K04366</a>]
 (BTHS) TAZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6901"">6901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13511"">K13511</a>]
 HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DPA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3113"">3113</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DPB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3115"">3115</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]",,"LPS [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00338"">C00338</a>]
 Ethanol [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00469"">C00469</a>]
 Anthracycline
 Low oxygen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00007"">C00007</a>]",,"ビソプロロールフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00634"">D00634</a>]
 カルベジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00255"">D00255</a>]",,"ICD-11: BC43.0
 ICD-10: I42
 OMIM: <a href=""https://www.omim.org/entry/115200"">115200</a> <a href=""https://www.omim.org/entry/302045"">302045</a> <a href=""https://www.omim.org/entry/601493"">601493</a> <a href=""https://www.omim.org/entry/601494"">601494</a> <a href=""https://www.omim.org/entry/601154"">601154</a> <a href=""https://www.omim.org/entry/604145"">604145</a> <a href=""https://www.omim.org/entry/604765"">604765</a> <a href=""https://www.omim.org/entry/605362"">605362</a> <a href=""https://www.omim.org/entry/606685"">606685</a> <a href=""https://www.omim.org/entry/607482"">607482</a> <a href=""https://www.omim.org/entry/608569"">608569</a> <a href=""https://www.omim.org/entry/609909"">609909</a> <a href=""https://www.omim.org/entry/613424"">613424</a> <a href=""https://www.omim.org/entry/613426"">613426</a> <a href=""https://www.omim.org/entry/613694"">613694</a> <a href=""https://www.omim.org/entry/613697"">613697</a> <a href=""https://www.omim.org/entry/611407"">611407</a> <a href=""https://www.omim.org/entry/611615"">611615</a> <a href=""https://www.omim.org/entry/611878"">611878</a> <a href=""https://www.omim.org/entry/611879"">611879</a> <a href=""https://www.omim.org/entry/611880"">611880</a> <a href=""https://www.omim.org/entry/614672"">614672</a> <a href=""https://www.omim.org/entry/618189"">618189</a> <a href=""https://www.omim.org/entry/619371"">619371</a> <a href=""https://www.omim.org/entry/619492"">619492</a> <a href=""https://www.omim.org/entry/612158"">612158</a> <a href=""https://www.omim.org/entry/613122"">613122</a> <a href=""https://www.omim.org/entry/613172"">613172</a> <a href=""https://www.omim.org/entry/613252"">613252</a> <a href=""https://www.omim.org/entry/613286"">613286</a> <a href=""https://www.omim.org/entry/613642"">613642</a> <a href=""https://www.omim.org/entry/613881"">613881</a> <a href=""https://www.omim.org/entry/615184"">615184</a> <a href=""https://www.omim.org/entry/615235"">615235</a> <a href=""https://www.omim.org/entry/615248"">615248</a> <a href=""https://www.omim.org/entry/615396"">615396</a> <a href=""https://www.omim.org/entry/615916"">615916</a> <a href=""https://www.omim.org/entry/607487"">607487</a> <a href=""https://www.omim.org/entry/612877"">612877</a> <a href=""https://www.omim.org/entry/615373"">615373</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12270949"">12270949</a>
 著者        Fatkin D, Graham RM
 タイトル      Molecular mechanisms of inherited cardiomyopathies.
 雑誌        Physiol Rev 82:945-80 (2002)
 DOI:<a href=""https://doi.org/10.1152/physrev.00012.2002"">10.1152/physrev.00012.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12844200"">12844200</a>
 著者        Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
 タイトル      Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
 雑誌        Cardiovasc J S Afr 14:145-55 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20864896"">20864896</a>
 著者        Hershberger RE, Morales A, Siegfried JD
 タイトル      Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
 雑誌        Genet Med 12:655-67 (2010)
 DOI:<a href=""https://doi.org/10.1097/GIM.0b013e3181f2481f"">10.1097/GIM.0b013e3181f2481f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20236114"">20236114</a>
 著者        Franciosi S
 タイトル      Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
 雑誌        Clin Genet 77:535-6 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01396_1.x"">10.1111/j.1399-0004.2010.01396_1.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20551992"">20551992</a>
 著者        Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
 タイトル      Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
 雑誌        Eur J Hum Genet 18:1160-5 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.83"">10.1038/ejhg.2010.83</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19015585"">19015585</a>
 著者        Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A
 タイトル      Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
 雑誌        Circ J 73:158-61 (2009)
 DOI:<a href=""https://doi.org/10.1253/circj.CJ-08-0722"">10.1253/circj.CJ-08-0722</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21965549"">21965549</a>
 著者        Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM
 タイトル      Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
 雑誌        Circ Cardiovasc Genet 4:585-94 (2011)
 DOI:<a href=""https://doi.org/10.1161/CIRCGENETICS.111.961052"">10.1161/CIRCGENETICS.111.961052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17646580"">17646580</a>
 著者        Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss HP, Schaper W, Schaper J, Bos E, Den Hertog J, van Eeden FJ, Peters PJ, Hasenfuss G, Chien KR, Bakkers J
 タイトル      Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
 雑誌        Circulation 116:515-25 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.107.689984"">10.1161/CIRCULATIONAHA.107.689984</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22892539"">22892539</a>
 著者        Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S
 タイトル      Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
 雑誌        Eur J Hum Genet 21:294-300 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.173"">10.1038/ejhg.2012.173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18678517"">18678517</a>
 著者        Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C
 タイトル      A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
 雑誌        Mol Genet Metab 95:74-80 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2008.06.005"">10.1016/j.ymgme.2008.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23768516"">23768516</a>
 著者        Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
 タイトル      Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
 雑誌        Am J Hum Genet 93:67-77 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.015"">10.1016/j.ajhg.2013.05.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32514796"">32514796</a>
 著者        Ganapathi M, Argyriou L, Martinez-Azorin F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorli-Garcia M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B
 タイトル      Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
 雑誌        Hum Genet 139:1443-1454 (2020)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02188-6"">10.1007/s00439-020-02188-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31227780"">31227780</a>
 著者        Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP
 タイトル      Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
 雑誌        Sci Rep 9:9038 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41598-019-44987-6"">10.1038/s41598-019-44987-6</a>"
H00295,ウイルス性心筋炎,,,"Myocarditis is clinically defined as cardiac disease associated with inflammation of the myocardium and necrosis and/or degeneration of adjacent myocytes in the absence of an ischemic event. Most often, myocarditis results from common viral infections; less commonly, specific forms of myocarditis may result from other pathogens, toxic or hypersensitivity drug reactions, giant-cell myocarditis, or sarcoidosis. More than 20 common viruses, including coxsackieviruses, adenoviruses, influenza viruses, cytomegaloviruses, and human immunodeficiency virus, have been associated with myocarditis in humans. However, coxsackieviruses are considered the dominant cause of myocarditis, particularly in neonates and young children. After the acute phase caused by direct cytopathic effects of the virus, a small proportion of patients subsequently develop autoimmune- mediated, chronic myocarditis [4], accompanied by circulating autoantibodies to cardiac myosin and other heart antigens, which can sometimes lead to heart failure and death associated with dilated cardiomyopathy (DCM). Genetic linkage between susceptibility to myocarditis/DCM and the major histocompatibility complex (MHC) genes has been reported in both humans and experimentally induced mouse models.",心臓病,,HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752],"Enteroviruses
 Adenoviruses
 Cytomegalovirus
 Parvovirus
 Hepatitis B and C
 HIV
 Human herpes viruses
 Influenza viruses",,,,,"ICD-11: BC42.1
 ICD-10: I40","PMID:19127454
 著者        Portig I, Sandmoeller A, Kreilinger S, Maisch B
 タイトル      HLA-DQB1* polymorphism and associations with dilated cardiomyopathy, inflammatory dilated cardiomyopathy and myocarditis.
 雑誌        Autoimmunity 42:33-40 (2009)
 DOI:10.1080/08916930802258651
 PMID:18190873
 著者        Li HS, Ligons DL, Rose NR
 タイトル      Genetic complexity of autoimmune myocarditis.
 雑誌        Autoimmun Rev 7:168-73 (2008)
 DOI:10.1016/j.autrev.2007.11.010
 PMID:8793712 (pathogen, drug)
 著者        Fairley CK, Ryan M, Wall PG, Weinberg J
 タイトル      The organisms reported to cause infective myocarditis and pericarditis in England and Wales.
 雑誌        J Infect 32:223-5 (1996)
 DOI:10.1016/S0163-4453(96)80023-5
 PMID:18617482 (pathogen)
 著者        Dennert R, Crijns HJ, Heymans S
 タイトル      Acute viral myocarditis.
 雑誌        Eur Heart J 29:2073-82 (2008)
 DOI:10.1093/eurheartj/ehn296
 PMID:17575480 (pathogen)
 著者        Ellis CR, Di Salvo T
 タイトル      Myocarditis: basic and clinical aspects.
 雑誌        Cardiol Rev 15:170-7 (2007)
 DOI:10.1097/CRD.0b013e31806450c4
 PMID:19357408 (drug)
 著者        Cooper LT Jr
 タイトル      Myocarditis.
 雑誌        N Engl J Med 360:1526-38 (2009)
 DOI:10.1056/NEJMra0800028
 PMID:11524405 (drug)
 著者        Liu PP, Mason JW
 タイトル      Advances in the understanding of myocarditis.
 雑誌        Circulation 104:1076-82 (2001)
 DOI:10.1161/hc3401.095198
 PMID:16106325 (drug)
 著者        Burian J, Buser P, Eriksson U
 タイトル      Myocarditis: the immunologist's view on pathogenesis and treatment.
 雑誌        Swiss Med Wkly 135:359-64 (2005)
 PMID:16476862 (drug)
 著者        Magnani JW, Dec GW
 タイトル      Myocarditis: current trends in diagnosis and treatment.
 雑誌        Circulation 113:876-90 (2006)
 DOI:10.1161/CIRCULATIONAHA.105.584532","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00295"">H00295</a>",ウイルス性心筋炎,"Myocarditis is clinically defined as cardiac disease associated with inflammation of the myocardium and necrosis and/or degeneration of adjacent myocytes in the absence of an ischemic event. Most often, myocarditis results from common viral infections; less commonly, specific forms of myocarditis may result from other pathogens, toxic or hypersensitivity drug reactions, giant-cell myocarditis, or sarcoidosis. More than 20 common viruses, including coxsackieviruses, adenoviruses, influenza viruses, cytomegaloviruses, and human immunodeficiency virus, have been associated with myocarditis in humans. However, coxsackieviruses are considered the dominant cause of myocarditis, particularly in neonates and young children. After the acute phase caused by direct cytopathic effects of the virus, a small proportion of patients subsequently develop autoimmune- mediated, chronic myocarditis [4], accompanied by circulating autoantibodies to cardiac myosin and other heart antigens, which can sometimes lead to heart failure and death associated with dilated cardiomyopathy (DCM). Genetic linkage between susceptibility to myocarditis/DCM and the major histocompatibility complex (MHC) genes has been reported in both humans and experimentally induced mouse models.",,"HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]","Enteroviruses
 Adenoviruses
 Cytomegalovirus
 Parvovirus
 Hepatitis B and C
 HIV
 Human herpes viruses
 Influenza viruses",,,,,"ICD-11: BC42.1
 ICD-10: I40","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19127454"">19127454</a>
 著者        Portig I, Sandmoeller A, Kreilinger S, Maisch B
 タイトル      HLA-DQB1* polymorphism and associations with dilated cardiomyopathy, inflammatory dilated cardiomyopathy and myocarditis.
 雑誌        Autoimmunity 42:33-40 (2009)
 DOI:<a href=""https://doi.org/10.1080/08916930802258651"">10.1080/08916930802258651</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18190873"">18190873</a>
 著者        Li HS, Ligons DL, Rose NR
 タイトル      Genetic complexity of autoimmune myocarditis.
 雑誌        Autoimmun Rev 7:168-73 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2007.11.010"">10.1016/j.autrev.2007.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8793712"">8793712</a> (pathogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Fairley CK, Ryan M, Wall PG, Weinberg J
 タイトル      The organisms reported to cause infective myocarditis and pericarditis in England and Wales.
 雑誌        J Infect 32:223-5 (1996)
 DOI:<a href=""https://doi.org/10.1016/S0163-4453(96)80023-5"">10.1016/S0163-4453(96)80023-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18617482"">18617482</a> (pathogen)
 著者        Dennert R, Crijns HJ, Heymans S
 タイトル      Acute viral myocarditis.
 雑誌        Eur Heart J 29:2073-82 (2008)
 DOI:<a href=""https://doi.org/10.1093/eurheartj/ehn296"">10.1093/eurheartj/ehn296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17575480"">17575480</a> (pathogen)
 著者        Ellis CR, Di Salvo T
 タイトル      Myocarditis: basic and clinical aspects.
 雑誌        Cardiol Rev 15:170-7 (2007)
 DOI:<a href=""https://doi.org/10.1097/CRD.0b013e31806450c4"">10.1097/CRD.0b013e31806450c4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19357408"">19357408</a> (drug)
 著者        Cooper LT Jr
 タイトル      Myocarditis.
 雑誌        N Engl J Med 360:1526-38 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0800028"">10.1056/NEJMra0800028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11524405"">11524405</a> (drug)
 著者        Liu PP, Mason JW
 タイトル      Advances in the understanding of myocarditis.
 雑誌        Circulation 104:1076-82 (2001)
 DOI:<a href=""https://doi.org/10.1161/hc3401.095198"">10.1161/hc3401.095198</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16106325"">16106325</a> (drug)
 著者        Burian J, Buser P, Eriksson U
 タイトル      Myocarditis: the immunologist's view on pathogenesis and treatment.
 雑誌        Swiss Med Wkly 135:359-64 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16476862"">16476862</a> (drug)
 著者        Magnani JW, Dec GW
 タイトル      Myocarditis: current trends in diagnosis and treatment.
 雑誌        Circulation 113:876-90 (2006)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.105.584532"">10.1161/CIRCULATIONAHA.105.584532</a>"
H00296,"RecQヘリカーゼ欠損症
 下位グループ    ブルーム症候群 [DS:H01346]
 ウェルナー症候群 [DS:H01733]
 ロスムンド-トムソン症候群 [DS:H01734]
 ラパデリノ症候群 [DS:H00965]
 バラーゲロルト症候群",,,"RecQ helicases have crucial roles in the maintenance of genome stability. In humans, it is known that deficiencies in three of the five human RecQ helicases cause genetic disorders characterized by cancer predisposition, premature aging and developmental abnormalities. These disorders are Bloom's syndrome (BS), Werner's syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by mutations in BLM, WRN and RECQ4, respectively. Despite the apparent structural and biochemical similarities between the BLM, WRN and RECQ4 proteins, the phenotypes of BS, WS and RTS are different, suggesting that each disease pathway is functionally distinct to some extent. BS is characterized by most prominently, a predisposition to all types of cancers. WS is characterized by the premature development of features that resemble aging. RTS is characterized by skin and skeletal abnormalities, signs of premature aging, and cancer predisposition, especially to osteosarcomas. Recent research has shown many connections between all three proteins and the regulation of excess HR (Homologous recombination). It was also indicated that BLM is involved in repair of stalled DNA replication forks, and that WRN is required for telomere maintenance. Mutations in RECQL4 also associate with 2 additional syndromes, Rapadilino and Baller-Gerold syndrome.",先天奇形,,"BLM [HSA:641] [KO:K10901]
 WRN [HSA:7486] [KO:K10900]
 RECQL4 [HSA:9401] [KO:K10730]",,,,,Disorder of DNA repair system,"ICD-10: Q82.8
 MeSH: D001816 D014898 D011038 C535288
 OMIM: 210900 277700 268400 266280 218600","PMID:12200042
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:10.1016/S1357-2725(02)00039-0
 PMID:18430459
 著者        Ouyang KJ, Woo LL, Ellis NA.
 タイトル      Homologous recombination and maintenance of genome integrity: Cancer and aging through the prism of human RecQ helicases.
 雑誌        Mech Ageing Dev 129:425-40 (2008)
 DOI:10.1016/j.mad.2008.03.003
 PMID:17571213
 著者        Hanada K, Hickson ID
 タイトル      Molecular genetics of RecQ helicase disorders.
 雑誌        Cell Mol Life Sci 64:2306-22 (2007)
 DOI:10.1007/s00018-007-7121-z
 PMID:19661064
 著者        Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K
 タイトル      Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
 雑誌        J Biol Chem 284:26360-7 (2009)
 DOI:10.1074/jbc.M109.029348","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00296"">H00296</a>","RecQヘリカーゼ欠損症
 下位グループ    ブルーム症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01346"">H01346</a>]
 ウェルナー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01733"">H01733</a>]
 ロスムンド-トムソン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01734"">H01734</a>]
 ラパデリノ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00965"">H00965</a>]
 バラーゲロルト症候群","RecQ helicases have crucial roles in the maintenance of genome stability. In humans, it is known that deficiencies in three of the five human RecQ helicases cause genetic disorders characterized by cancer predisposition, premature aging and developmental abnormalities. These disorders are Bloom's syndrome (BS), Werner's syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by mutations in BLM, WRN and RECQ4, respectively. Despite the apparent structural and biochemical similarities between the BLM, WRN and RECQ4 proteins, the phenotypes of BS, WS and RTS are different, suggesting that each disease pathway is functionally distinct to some extent. BS is characterized by most prominently, a predisposition to all types of cancers. WS is characterized by the premature development of features that resemble aging. RTS is characterized by skin and skeletal abnormalities, signs of premature aging, and cancer predisposition, especially to osteosarcomas. Recent research has shown many connections between all three proteins and the regulation of excess HR (Homologous recombination). It was also indicated that BLM is involved in repair of stalled DNA replication forks, and that WRN is required for telomere maintenance. Mutations in RECQL4 also associate with 2 additional syndromes, Rapadilino and Baller-Gerold syndrome.",,"BLM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:641"">641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10901"">K10901</a>]
 WRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7486"">7486</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10900"">K10900</a>]
 RECQL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9401"">9401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10730"">K10730</a>]",,,,,Disorder of DNA repair system,"ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001816"">D001816</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014898"">D014898</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011038"">D011038</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535288"">C535288</a>
 OMIM: <a href=""https://www.omim.org/entry/210900"">210900</a> <a href=""https://www.omim.org/entry/277700"">277700</a> <a href=""https://www.omim.org/entry/268400"">268400</a> <a href=""https://www.omim.org/entry/266280"">266280</a> <a href=""https://www.omim.org/entry/218600"">218600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12200042"">12200042</a>
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1357-2725(02)00039-0"">10.1016/S1357-2725(02)00039-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18430459"">18430459</a>
 著者        Ouyang KJ, Woo LL, Ellis NA.
 タイトル      Homologous recombination and maintenance of genome integrity: Cancer and aging through the prism of human RecQ helicases.
 雑誌        Mech Ageing Dev 129:425-40 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.mad.2008.03.003"">10.1016/j.mad.2008.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17571213"">17571213</a>
 著者        Hanada K, Hickson ID
 タイトル      Molecular genetics of RecQ helicase disorders.
 雑誌        Cell Mol Life Sci 64:2306-22 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00018-007-7121-z"">10.1007/s00018-007-7121-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19661064"">19661064</a>
 著者        Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K
 タイトル      Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
 雑誌        J Biol Chem 284:26360-7 (2009)
 DOI:<a href=""https://doi.org/10.1074/jbc.M109.029348"">10.1074/jbc.M109.029348</a>"
H00297,ペスト,,,"Plague is a deadly infectious disease caused by Yersinia pestis. The pathogen has rodent reservoirs and is transmitted to humans usually by fleas as vectors. There are three major manifestations: bubonic, septicemic, and pneumonic plagues. Severe epidemics in the past include the Plague of Justinian in the sixth century, the Black Death in the fourteenth century, and the Third Pandemic that began in Central Asia in the nineteenth century. The genome sequences have been determined for the strains responsible for these epidemics.",感染症,"nt06120  Calcium signaling (viruses and bacteria)
 nt06121  TLR signaling (viruses and bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06139  NLR signaling (viruses and bacteria)",,"Yersinia pestis CO92 (biovar Orientalis) [GN:ype] (Third Pandemic)
 Yersinia pestis KIM (biovar Mediaevalis) [GN:ypk] (Black Death)
 Yersinia pestis Antiqua,Nepal516 (biovar Antiqua) [GN:ypa ypn] (Plague of Justinian)
 Yersinia pestis Pestoides F [GN:ypp]
 Yersinia pestis Angola [GN:ypg]
 Yersinia pestis D106004 [GN:ypd]
 Yersinia pestis D182038 [GN:ypx]",,,"レボフロキサシン水和物 [DR:D00588]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]
 ストレプトマイシン硫酸塩 [DR:D01350]","Vector: Xenopsylla cheopis (rat flea)
 murine toxin [KO:K11009]","ICD-11: 1B93
 ICD-10: A20
 MeSH: D010930
 MedlinePlus: 000596",,"<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00297"">H00297</a>",ペスト,"Plague is a deadly infectious disease caused by Yersinia pestis. The pathogen has rodent reservoirs and is transmitted to humans usually by fleas as vectors. There are three major manifestations: bubonic, septicemic, and pneumonic plagues. Severe epidemics in the past include the Plague of Justinian in the sixth century, the Black Death in the fourteenth century, and the Third Pandemic that began in Central Asia in the nineteenth century. The genome sequences have been determined for the strains responsible for these epidemics.","<a href=""https://www.kegg.jp/network/nt06120"">nt06120</a>  Calcium signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06139"">nt06139</a>  NLR signaling (viruses and bacteria)",,"Yersinia pestis CO92 (biovar Orientalis) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ype"">ype</a>] (Third Pandemic)
 Yersinia pestis KIM (biovar Mediaevalis) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypk"">ypk</a>] (Black Death)
 Yersinia pestis Antiqua,Nepal516 (biovar Antiqua) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypa"">ypa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypn"">ypn</a>] (Plague of Justinian)
 Yersinia pestis Pestoides F [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypp"">ypp</a>]
 Yersinia pestis Angola [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypg"">ypg</a>]
 Yersinia pestis <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D106004"">D106004</a> [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypd"">ypd</a>]
 Yersinia pestis <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D182038"">D182038</a> [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypx"">ypx</a>]",,,"レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]","Vector: Xenopsylla cheopis (rat flea)
 murine toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11009"">K11009</a>]","ICD-11: 1B93
 ICD-10: A20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010930"">D010930</a>
 MedlinePlus: 000596",
H00298,エルシニア感染症,,,"Yersiniosis (non-plague) is an infectious disease caused by two species, Yersinia enterocolitica and Y. pseudotuberculosis, which is zoonotic, capable of being transmitted from infected animals to man. Routes of transmission include fecal-oral spread via ingestion of contaminated food as the most common route and consumption of contaminated water supplies. Yersiniosis occurs more commonly in regions with temperate rather than tropical or subtropical climates.",感染症,,,"Yersinia pseudotuberculosis [GN:yps ypi ypq]
 Yersinia enterocolitica [GN:yen yep yey yef]
 superantigen [KO:K11010]",,,,,"ICD-11: 1A05 1B9A
 ICD-10: A04.6 A28.2
 MeSH: D015009","PMID:10192708
 著者        Smego RA, Frean J, Koornhof HJ
 タイトル      Yersiniosis I: microbiological and clinicoepidemiological aspects of plague and non-plague Yersinia infections.
 雑誌        Eur J Clin Microbiol Infect Dis 18:1-15 (1999)
 DOI:10.1007/s100960050219
 PMID:15721832
 著者        Pujol C, Bliska JB
 タイトル      Turning Yersinia pathogenesis outside in: subversion of macrophage function by intracellular yersiniae.
 雑誌        Clin Immunol 114:216-26 (2005)
 DOI:10.1016/j.clim.2004.07.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00298"">H00298</a>",エルシニア感染症,"Yersiniosis (non-plague) is an infectious disease caused by two species, Yersinia enterocolitica and Y. pseudotuberculosis, which is zoonotic, capable of being transmitted from infected animals to man. Routes of transmission include fecal-oral spread via ingestion of contaminated food as the most common route and consumption of contaminated water supplies. Yersiniosis occurs more commonly in regions with temperate rather than tropical or subtropical climates.",,,"Yersinia pseudotuberculosis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:yps"">yps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypi"">ypi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ypq"">ypq</a>]
 Yersinia enterocolitica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:yen"">yen</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:yep"">yep</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:yey"">yey</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:yef"">yef</a>]
 superantigen [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11010"">K11010</a>]",,,,,"ICD-11: 1A05 1B9A
 ICD-10: A04.6 A28.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015009"">D015009</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10192708"">10192708</a>
 著者        Smego RA, Frean J, Koornhof HJ
 タイトル      Yersiniosis I: microbiological and clinicoepidemiological aspects of plague and non-plague Yersinia infections.
 雑誌        Eur J Clin Microbiol Infect Dis 18:1-15 (1999)
 DOI:<a href=""https://doi.org/10.1007/s100960050219"">10.1007/s100960050219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15721832"">15721832</a>
 著者        Pujol C, Bliska JB
 タイトル      Turning Yersinia pathogenesis outside in: subversion of macrophage function by intracellular yersiniae.
 雑誌        Clin Immunol 114:216-26 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2004.07.013"">10.1016/j.clim.2004.07.013</a>"
H00299,細菌性赤痢,,,"Shigellosis (bacillary dysentery) is a foodborne enterobacterial infection caused by Shigella species. There are four subgroups of Shigella: S. dysenteriae, S. flexneri, S. boydii, and S. sonnei. Of these, S. flexneri is the most frequently observed worldwide, and S. dysenteriae causes severe disease with the highest fatality rate. Transmission usually occurs via contaminated food and water or through person-to-person contact.",感染症,"nt06121  TLR signaling (viruses and bacteria)
 nt06123  TNF signaling (viruses and bacteria)
 nt06128  Autophagy (viruses and bacteria)
 nt06131  Apoptosis (viruses and bacteria)
 nt06134  CGAS-STING signaling (viruses and bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06139  NLR signaling (viruses and bacteria)",,"Shigella flexneri [GN:sfl sfx sfv sfe sft]
 Shigella sonnei [GN:ssn]
 Shigella boydii [GN:sbo sbc]
 Shigella dysenteriae [GN:sdy sdz]
 shiga toxin [KO:K11006 K11007]
 enterotoxin ShET-1 [KO:K11011 K11012]",,,,,"ICD-11: 1A02
 ICD-10: A03
 MeSH: D004405
 MedlinePlus: 000295","PMID:18448978
 著者        Kweon MN
 タイトル      Shigellosis: the current status of vaccine development.
 雑誌        Curr Opin Infect Dis 21:313-8 (2008)
 DOI:10.1097/QCO.0b013e3282f88b92
 PMID:16954064
 著者        Warren BR, Parish ME, Schneider KR
 タイトル      Shigella as a foodborne pathogen and current methods for detection in food.
 雑誌        Crit Rev Food Sci Nutr 46:551-67 (2006)
 DOI:10.1080/10408390500295458
 PMID:15880088
 著者        Niyogi SK
 タイトル      Shigellosis.
 雑誌        J Microbiol 43:133-43 (2005)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00299"">H00299</a>",細菌性赤痢,"Shigellosis (bacillary dysentery) is a foodborne enterobacterial infection caused by Shigella species. There are four subgroups of Shigella: S. dysenteriae, S. flexneri, S. boydii, and S. sonnei. Of these, S. flexneri is the most frequently observed worldwide, and S. dysenteriae causes severe disease with the highest fatality rate. Transmission usually occurs via contaminated food and water or through person-to-person contact.","<a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06128"">nt06128</a>  Autophagy (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06134"">nt06134</a>  CGAS-STING signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06139"">nt06139</a>  NLR signaling (viruses and bacteria)",,"Shigella flexneri [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sfl"">sfl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sfx"">sfx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sfv"">sfv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sfe"">sfe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sft"">sft</a>]
 Shigella sonnei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssn"">ssn</a>]
 Shigella boydii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sbo"">sbo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sbc"">sbc</a>]
 Shigella dysenteriae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sdy"">sdy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sdz"">sdz</a>]
 shiga toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11006"">K11006</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11007"">K11007</a>]
 enterotoxin ShET-1 [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11011"">K11011</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11012"">K11012</a>]",,,,,"ICD-11: 1A02
 ICD-10: A03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004405"">D004405</a>
 MedlinePlus: 000295","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18448978"">18448978</a>
 著者        Kweon MN
 タイトル      Shigellosis: the current status of vaccine development.
 雑誌        Curr Opin Infect Dis 21:313-8 (2008)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3282f88b92"">10.1097/QCO.0b013e3282f88b92</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16954064"">16954064</a>
 著者        Warren BR, Parish ME, Schneider KR
 タイトル      Shigella as a foodborne pathogen and current methods for detection in food.
 雑誌        Crit Rev Food Sci Nutr 46:551-67 (2006)
 DOI:<a href=""https://doi.org/10.1080/10408390500295458"">10.1080/10408390500295458</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15880088"">15880088</a>
 著者        Niyogi SK
 タイトル      Shigellosis.
 雑誌        J Microbiol 43:133-43 (2005)"
H00300,エンテロバクター感染症,,,"Enterobacter infections are commonly found in nosocomial settings and Enterobacter spp. have been recognized as increasingly important pathogens. They are intrinsically resistant to aminopenicillins, cefazolin, and cefoxitin because they produce constitutive chromosome AmpC beta-lactamase. Enterobacter spp. are recovered from the respiratory tract, surgical wounds, urinary tract, and blood and are implicated in a broad range of clinical syndromes.",感染症,,,"Enterobacter cloacae [GN:enc eec ecls]
 Enterobacter hormaechei [GN:eclx ecly eclz ecla eclc]
 Cronobacter sakazakii [GN:esa csk csj]
 Cronobacter turicensis [GN:ctu]
 Enterobacter agglomerans",,,,Approximately 31% of Enterobacter spp. infections in intensive care units in the United States involve strains not susceptible to third-generation cephalosporins.,"ICD-11: 1A1Y
 ICD-10: A04.8","PMID:9105752
 著者        Sanders WE Jr, Sanders CC
 タイトル      Enterobacter spp.: pathogens poised to flourish at the turn of the century.
 雑誌        Clin Microbiol Rev 10:220-41 (1997)
 DOI:10.1128/CMR.10.2.220-241.1997
 PMID:16813978
 著者        Paterson DL
 タイトル      Resistance in gram-negative bacteria: Enterobacteriaceae.
 雑誌        Am J Infect Control 34:S20-8; discussion S64-73 (2006)
 DOI:10.1016/j.ajic.2006.05.238","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00300"">H00300</a>",エンテロバクター感染症,"Enterobacter infections are commonly found in nosocomial settings and Enterobacter spp. have been recognized as increasingly important pathogens. They are intrinsically resistant to aminopenicillins, cefazolin, and cefoxitin because they produce constitutive chromosome AmpC beta-lactamase. Enterobacter spp. are recovered from the respiratory tract, surgical wounds, urinary tract, and blood and are implicated in a broad range of clinical syndromes.",,,"Enterobacter cloacae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:enc"">enc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eec"">eec</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecls"">ecls</a>]
 Enterobacter hormaechei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eclx"">eclx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecly"">ecly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eclz"">eclz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecla"">ecla</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eclc"">eclc</a>]
 Cronobacter sakazakii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:esa"">esa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:csk"">csk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:csj"">csj</a>]
 Cronobacter turicensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctu"">ctu</a>]
 Enterobacter agglomerans",,,,Approximately 31% of Enterobacter spp. infections in intensive care units in the United States involve strains not susceptible to third-generation cephalosporins.,"ICD-11: 1A1Y
 ICD-10: A04.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9105752"">9105752</a>
 著者        Sanders WE Jr, Sanders CC
 タイトル      Enterobacter spp.: pathogens poised to flourish at the turn of the century.
 雑誌        Clin Microbiol Rev 10:220-41 (1997)
 DOI:<a href=""https://doi.org/10.1128/CMR.10.2.220-241.1997"">10.1128/CMR.10.2.220-241.1997</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16813978"">16813978</a>
 著者        Paterson DL
 タイトル      Resistance in gram-negative bacteria: Enterobacteriaceae.
 雑誌        Am J Infect Control 34:S20-8; discussion S64-73 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ajic.2006.05.238"">10.1016/j.ajic.2006.05.238</a>"
H00301,クレブシェラ感染症,,,"Klebsiella is a gram-negative bacterium of Enterobacteriaceae, which has emerged as an important cause of hospital-acquired infections. Infections caused by extended-spectrum beta-lactamase (ESBL)-producing pathogens, particularly Klebsiella pneumoniae, are increasing. ESBL are plasmid-mediated enzymes and these plasmids also carry resistance genes to other antibiotics including aminoglycosides, chloramphenicol, sulfonamides, trimethoprim, and tetracycline. Thus, Gram-negative bacilli containing these plasmids are multidrug-resistant. Klebsiella pneumoniae can cause sepsis, conjunctivitis, urinary tract infections, and surgical site infections. Bloodstream infections with Klebsiella markedly increase the rates of treatment failure and death.",感染症,,,"Klebsiella pneumoniae [GN:kpn kpu kpm kpp kph kpz kpv kpw kpy kpg kpc kpq kpt kpr kpa kps kpx kpb kpnk]
 Klebsiella oxytoca [GN:koe kok]
 Klebsiella quasipneumoniae [GN:kqu]
 Klebsiella aerogenes [GN:ear]
 Klebsiella quasivariicola [GN:kqv]
 Klebsiella sp. WCHKl090001 [GN:klw]",,,,,"ICD-11: CA40.03
 ICD-10: A49.8 B96.1 J15.0
 MeSH: D007710","PMID:21653305
 著者        Gupta N, Limbago BM, Patel JB, Kallen AJ
 タイトル      Carbapenem-resistant Enterobacteriaceae: epidemiology and prevention.
 雑誌        Clin Infect Dis 53:60-7 (2011)
 DOI:10.1093/cid/cir202
 PMID:13679928
 著者        Gupta A, Ampofo K, Rubenstein D, Saiman L
 タイトル      Extended spectrum beta lactamase-producing Klebsiella pneumoniae infections: a review of the literature.
 雑誌        J Perinatol 23:439-43 (2003)
 DOI:10.1038/sj.jp.7210973
 PMID:16436702
 著者        Tumbarello M, Spanu T, Sanguinetti M, Citton R, Montuori E, Leone F, Fadda G, Cauda R
 タイトル      Bloodstream infections caused by extended-spectrum-beta-lactamase-producing Klebsiella pneumoniae: risk factors, molecular epidemiology, and clinical outcome.
 雑誌        Antimicrob Agents Chemother 50:498-504 (2006)
 DOI:10.1128/AAC.50.2.498-504.2006
 PMID:15711657
 著者        Panhotra BR, Saxena AK, Al-Ghamdi AM
 タイトル      Extended-spectrum beta-lactamase-producing Klebsiella pneumoniae hospital acquired bacteremia. Risk factors and clinical outcome.
 雑誌        Saudi Med J 25:1871-6 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00301"">H00301</a>",クレブシェラ感染症,"Klebsiella is a gram-negative bacterium of Enterobacteriaceae, which has emerged as an important cause of hospital-acquired infections. Infections caused by extended-spectrum beta-lactamase (ESBL)-producing pathogens, particularly Klebsiella pneumoniae, are increasing. ESBL are plasmid-mediated enzymes and these plasmids also carry resistance genes to other antibiotics including aminoglycosides, chloramphenicol, sulfonamides, trimethoprim, and tetracycline. Thus, Gram-negative bacilli containing these plasmids are multidrug-resistant. Klebsiella pneumoniae can cause sepsis, conjunctivitis, urinary tract infections, and surgical site infections. Bloodstream infections with Klebsiella markedly increase the rates of treatment failure and death.",,,"Klebsiella pneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpn"">kpn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpu"">kpu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpm"">kpm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpp"">kpp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kph"">kph</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpz"">kpz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpv"">kpv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpw"">kpw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpy"">kpy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpg"">kpg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpc"">kpc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpq"">kpq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpt"">kpt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpr"">kpr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpa"">kpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kps"">kps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpx"">kpx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpb"">kpb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kpnk"">kpnk</a>]
 Klebsiella oxytoca [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:koe"">koe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kok"">kok</a>]
 Klebsiella quasipneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kqu"">kqu</a>]
 Klebsiella aerogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ear"">ear</a>]
 Klebsiella quasivariicola [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:kqv"">kqv</a>]
 Klebsiella sp. WCHKl090001 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:klw"">klw</a>]",,,,,"ICD-11: CA40.03
 ICD-10: A49.8 B96.1 J15.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007710"">D007710</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21653305"">21653305</a>
 著者        Gupta N, Limbago BM, Patel JB, Kallen AJ
 タイトル      Carbapenem-resistant Enterobacteriaceae: epidemiology and prevention.
 雑誌        Clin Infect Dis 53:60-7 (2011)
 DOI:<a href=""https://doi.org/10.1093/cid/cir202"">10.1093/cid/cir202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13679928"">13679928</a>
 著者        Gupta A, Ampofo K, Rubenstein D, Saiman L
 タイトル      Extended spectrum beta lactamase-producing Klebsiella pneumoniae infections: a review of the literature.
 雑誌        J Perinatol 23:439-43 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.jp.7210973"">10.1038/sj.jp.7210973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16436702"">16436702</a>
 著者        Tumbarello M, Spanu T, Sanguinetti M, Citton R, Montuori E, Leone F, Fadda G, Cauda R
 タイトル      Bloodstream infections caused by extended-spectrum-beta-lactamase-producing Klebsiella pneumoniae: risk factors, molecular epidemiology, and clinical outcome.
 雑誌        Antimicrob Agents Chemother 50:498-504 (2006)
 DOI:<a href=""https://doi.org/10.1128/AAC.50.2.498-504.2006"">10.1128/AAC.50.2.498-504.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15711657"">15711657</a>
 著者        Panhotra BR, Saxena AK, Al-Ghamdi AM
 タイトル      Extended-spectrum beta-lactamase-producing Klebsiella pneumoniae hospital acquired bacteremia. Risk factors and clinical outcome.
 雑誌        Saudi Med J 25:1871-6 (2004)"
H00302,シトロバクター感染症,,,"Citrobacter species may cause infections in neonates and immunocompromised hosts. Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C. koseri horizontally in hospital settings or vertically from the mother at delivery.",感染症,,,"Citrobacter koseri (infants and immunocompromised) [GN:cko]
 Citrobacter freundii (immunocompromised)",,,,,"ICD-11: 1C41
 ICD-10: A49.8","PMID:10064257
 著者        Doran TI
 タイトル      The role of Citrobacter in clinical disease of children: review.
 雑誌        Clin Infect Dis 28:384-94 (1999)
 DOI:10.1086/515106
 PMID:12751719
 著者        Prais D, Nussinovitch M, Harel L, Amir J
 タイトル      Citrobacter koseri (diversus) meningitis in an otherwise healthy adolescent.
 雑誌        Scand J Infect Dis 35:202-4 (2003)
 DOI:10.1080/0036554021000026997","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00302"">H00302</a>",シトロバクター感染症,"Citrobacter species may cause infections in neonates and immunocompromised hosts. Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C. koseri horizontally in hospital settings or vertically from the mother at delivery.",,,"Citrobacter koseri (infants and immunocompromised) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cko"">cko</a>]
 Citrobacter freundii (immunocompromised)",,,,,"ICD-11: 1C41
 ICD-10: A49.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10064257"">10064257</a>
 著者        Doran TI
 タイトル      The role of Citrobacter in clinical disease of children: review.
 雑誌        Clin Infect Dis 28:384-94 (1999)
 DOI:<a href=""https://doi.org/10.1086/515106"">10.1086/515106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12751719"">12751719</a>
 著者        Prais D, Nussinovitch M, Harel L, Amir J
 タイトル      Citrobacter koseri (diversus) meningitis in an otherwise healthy adolescent.
 雑誌        Scand J Infect Dis 35:202-4 (2003)
 DOI:<a href=""https://doi.org/10.1080/0036554021000026997"">10.1080/0036554021000026997</a>"
H00303,セラチア感染症,,,Serratia species are gram-negative bacilli of the Enterobacteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association with medical devices and neonatal intensive care unit. S. marcescens strains that have been involved in outbreaks have often been resistant to multiple antibiotics.,感染症,,,"Serratia marcescens [GN:smar]
 Serratia proteamaculans [GN:spe]
 Serratia liquefaciens",,,,"Infections caused by S. marcescens may be difficult to treat because of resistance to a variety of antibiotics, including ampicillin and first and second generation cephalosporins.","ICD-11: 1C41
 ICD-10: A49.8
 MeSH: D016868","PMID:21976608
 著者        Mahlen SD
 タイトル      Serratia infections: from military experiments to current practice.
 雑誌        Clin Microbiol Rev 24:755-91 (2011)
 DOI:10.1128/CMR.00017-11
 PMID:9368530
 著者        Hejazi A, Falkiner FR
 タイトル      Serratia marcescens.
 雑誌        J Med Microbiol 46:903-12 (1997)
 DOI:10.1099/00222615-46-11-903
 PMID:9211156
 著者        van Ogtrop ML, van Zoeren-Grobben D, Verbakel-Salomons EM, van Boven CP
 タイトル      Serratia marcescens infections in neonatal departments: description of an outbreak and review of the literature.
 雑誌        J Hosp Infect 36:95-103 (1997)
 DOI:10.1016/S0195-6701(97)90115-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00303"">H00303</a>",セラチア感染症,Serratia species are gram-negative bacilli of the Enterobacteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association with medical devices and neonatal intensive care unit. S. marcescens strains that have been involved in outbreaks have often been resistant to multiple antibiotics.,,,"Serratia marcescens [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smar"">smar</a>]
 Serratia proteamaculans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spe"">spe</a>]
 Serratia liquefaciens",,,,"Infections caused by S. marcescens may be difficult to treat because of resistance to a variety of antibiotics, including ampicillin and first and second generation cephalosporins.","ICD-11: 1C41
 ICD-10: A49.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016868"">D016868</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21976608"">21976608</a>
 著者        Mahlen SD
 タイトル      Serratia infections: from military experiments to current practice.
 雑誌        Clin Microbiol Rev 24:755-91 (2011)
 DOI:<a href=""https://doi.org/10.1128/CMR.00017-11"">10.1128/CMR.00017-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9368530"">9368530</a>
 著者        Hejazi A, Falkiner FR
 タイトル      Serratia marcescens.
 雑誌        J Med Microbiol 46:903-12 (1997)
 DOI:<a href=""https://doi.org/10.1099/00222615-46-11-903"">10.1099/00222615-46-11-903</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9211156"">9211156</a>
 著者        van Ogtrop ML, van Zoeren-Grobben D, Verbakel-Salomons EM, van Boven CP
 タイトル      Serratia marcescens infections in neonatal departments: description of an outbreak and review of the literature.
 雑誌        J Hosp Infect 36:95-103 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0195-6701(97)90115-8"">10.1016/S0195-6701(97)90115-8</a>"
H00304,"インフルエンザ菌感染症;
 ヘモフィルスインフルエンザ感染症;
 侵襲性インフルエンザ菌感染症",,,"Haemophilus influenzae type b (Hib) infections are a major cause of severe infections in children between 2 months and 5 years of age worldwide. It affects approximately 25000 patients each year. Severity of the symptoms of Hib infection depends on the patient's age, and infants between 4 months and 1 year of age are at highest risk for meningitis. Invasive disease due to Hib may produce various clinical syndromes including meningitis, arthritis, pneumonia,	 cellulitis, osteomyelitis, and epiglottitis. Mucosal infections, such as bronchitis, sinusitis and conjunctivitis, and otitis media, can also be caused by Hib, but they are considered to be noninvasive disease.",感染症,,,Haemophilus influenzae [GN:hin hit hip hiq hiu hik hih],,,乾燥ヘモフィルスb型ワクチン [DR:D09189],American Indians and Alaskan Eskimos are at increased risk specifically for meningitis caused by Hib.,"ICD-11: 1D01.00 CA40.02 CA42.4
 ICD-10: A41.3 A49.2 G00.0 J14 J20.1
 MeSH: D006192","PMID:2194406 (description, drug, comment)
 著者        Janai H, Stutman HR, Marks MI
 タイトル      Invasive Haemophilus influenzae type B infections: a continuing challenge.
 雑誌        Am J Infect Control 18:160-6 (1990)
 DOI:10.1016/0196-6553(90)90181-Q
 PMID:22244051 (drug)
 著者        Ladhani SN
 タイトル      Two decades of experience with the Haemophilus influenzae serotype b conjugate vaccine in the United Kingdom.
 雑誌        Clin Ther 34:385-99 (2012)
 DOI:10.1016/j.clinthera.2011.11.027
 PMID:20980793 (drug)
 著者        Fitzwater SP, Watt JP, Levine OS, Santosham M
 タイトル      Haemophilus influenzae type b conjugate vaccines: considerations for vaccination schedules and implications for developing countries.
 雑誌        Hum Vaccin 6:810-8 (2010)
 DOI:10.4161/hv.6.10.13017
 PMID:3325012 (drug)
 著者        Gilbert GL
 タイトル      Epidemiology and prevention of invasive Haemophilus influenzae type b infection.
 雑誌        Aust Paediatr J 23:323-7 (1987)
 DOI:10.1111/j.1440-1754.1987.tb00283.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00304"">H00304</a>","インフルエンザ菌感染症;
 ヘモフィルスインフルエンザ感染症;
 侵襲性インフルエンザ菌感染症","Haemophilus influenzae type b (Hib) infections are a major cause of severe infections in children between 2 months and 5 years of age worldwide. It affects approximately 25000 patients each year. Severity of the symptoms of Hib infection depends on the patient's age, and infants between 4 months and 1 year of age are at highest risk for meningitis. Invasive disease due to Hib may produce various clinical syndromes including meningitis, arthritis, pneumonia,	 cellulitis, osteomyelitis, and epiglottitis. Mucosal infections, such as bronchitis, sinusitis and conjunctivitis, and otitis media, can also be caused by Hib, but they are considered to be noninvasive disease.",,,"Haemophilus influenzae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hin"">hin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hit"">hit</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hip"">hip</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hiq"">hiq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hiu"">hiu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hik"">hik</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hih"">hih</a>]",,,"乾燥ヘモフィルスb型ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09189"">D09189</a>]",American Indians and Alaskan Eskimos are at increased risk specifically for meningitis caused by Hib.,"ICD-11: 1D01.00 CA40.02 CA42.4
 ICD-10: A41.3 A49.2 G00.0 J14 J20.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006192"">D006192</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2194406"">2194406</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Janai H, Stutman HR, Marks MI
 タイトル      Invasive Haemophilus influenzae type B infections: a continuing challenge.
 雑誌        Am J Infect Control 18:160-6 (1990)
 DOI:<a href=""https://doi.org/10.1016/0196-6553(90)90181-Q"">10.1016/0196-6553(90)90181-Q</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22244051"">22244051</a> (drug)
 著者        Ladhani SN
 タイトル      Two decades of experience with the Haemophilus influenzae serotype b conjugate vaccine in the United Kingdom.
 雑誌        Clin Ther 34:385-99 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.clinthera.2011.11.027"">10.1016/j.clinthera.2011.11.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20980793"">20980793</a> (drug)
 著者        Fitzwater SP, Watt JP, Levine OS, Santosham M
 タイトル      Haemophilus influenzae type b conjugate vaccines: considerations for vaccination schedules and implications for developing countries.
 雑誌        Hum Vaccin 6:810-8 (2010)
 DOI:<a href=""https://doi.org/10.4161/hv.6.10.13017"">10.4161/hv.6.10.13017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3325012"">3325012</a> (drug)
 著者        Gilbert GL
 タイトル      Epidemiology and prevention of invasive Haemophilus influenzae type b infection.
 雑誌        Aust Paediatr J 23:323-7 (1987)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1754.1987.tb00283.x"">10.1111/j.1440-1754.1987.tb00283.x</a>"
H00305,軟性下疳,,,"Chancroid is a sexually transmitted disease (STD) caused by the gram-negative, short, slender bacterium Haemophilus ducreyi. It is a classical genito-ulcerative disease accompanied by inguinal lymphadenitis that is endemic in sub-Saharan Africa. It has generated considerable interest because it is associated as a co-factor for HIV transmission.",感染症,,,"Haemophilus ducreyi [GN:hdu]
 cytolethal distending toxin [KO:K11013 K11014 K11015]",,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 エリスロマイシン [DR:D00140]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]",Pregnant women should be treated with either erythromycin or ceftriaxone regimens.,"ICD-11: 1A90
 ICD-10: A57
 MeSH: D002602
 MedlinePlus: 000635","PMID:12576620
 著者        Lewis DA
 タイトル      Chancroid: clinical manifestations, diagnosis, and management.
 雑誌        Sex Transm Infect 79:68-71 (2003)
 DOI:10.1136/sti.79.3.228
 PMID:12653911
 著者        Sehgal VN, Srivastava G
 タイトル      Chancroid: contemporary appraisal.
 雑誌        Int J Dermatol 42:182-90 (2003)
 DOI:10.1046/j.1365-4362.2003.01724.x
 PMID:15918786
 著者        Annan NT, Lewis DA
 タイトル      Treatment of chancroid in resource-poor countries.
 雑誌        Expert Rev Anti Infect Ther 3:295-306 (2005)
 DOI:10.1586/14787210.3.2.295","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00305"">H00305</a>",軟性下疳,"Chancroid is a sexually transmitted disease (STD) caused by the gram-negative, short, slender bacterium Haemophilus ducreyi. It is a classical genito-ulcerative disease accompanied by inguinal lymphadenitis that is endemic in sub-Saharan Africa. It has generated considerable interest because it is associated as a co-factor for HIV transmission.",,,"Haemophilus ducreyi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hdu"">hdu</a>]
 cytolethal distending toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11013"">K11013</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11014"">K11014</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11015"">K11015</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]",Pregnant women should be treated with either erythromycin or ceftriaxone regimens.,"ICD-11: 1A90
 ICD-10: A57
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002602"">D002602</a>
 MedlinePlus: 000635","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12576620"">12576620</a>
 著者        Lewis DA
 タイトル      Chancroid: clinical manifestations, diagnosis, and management.
 雑誌        Sex Transm Infect 79:68-71 (2003)
 DOI:<a href=""https://doi.org/10.1136/sti.79.3.228"">10.1136/sti.79.3.228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12653911"">12653911</a>
 著者        Sehgal VN, Srivastava G
 タイトル      Chancroid: contemporary appraisal.
 雑誌        Int J Dermatol 42:182-90 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1365-4362.2003.01724.x"">10.1046/j.1365-4362.2003.01724.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15918786"">15918786</a>
 著者        Annan NT, Lewis DA
 タイトル      Treatment of chancroid in resource-poor countries.
 雑誌        Expert Rev Anti Infect Ther 3:295-306 (2005)
 DOI:<a href=""https://doi.org/10.1586/14787210.3.2.295"">10.1586/14787210.3.2.295</a>"
H00306,パスツレラ症,,,Pasteurella species are gram-negative facultative anaerobic bacilli found in the animal's oral cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead to serious diseases including septic shock and meningitis mostly in infants and pregnant women.,感染症,,,"Pasteurella multocida [GN:pmu pmv pmul]
 Pasteurella canis
 Pasteurella multocida subsp septica
 Pasteurella stomatis
 Pasteurella dagmatis",,,,"Pasteurella are usually not susceptible to dicloxacillin, cephalexin, clindamycin, or erythromycin.
 Potential virulence factors include capsular lipopolysaccharide, a cytotoxin, and iron acquisition proteins.","ICD-11: 1B99
 ICD-10: A28.0
 MeSH: D010326 D012766","PMID:6371440
 著者        Weber DJ, Wolfson JS, Swartz MN, Hooper DC
 タイトル      Pasteurella multocida infections. Report of 34 cases and review of the literature.
 雑誌        Medicine (Baltimore) 63:133-54 (1984)
 PMID:19555903
 著者        Oehler RL, Velez AP, Mizrachi M, Lamarche J, Gompf S
 タイトル      Bite-related and septic syndromes caused by cats and dogs.
 雑誌        Lancet Infect Dis 9:439-47 (2009)
 DOI:10.1016/S1473-3099(09)70110-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00306"">H00306</a>",パスツレラ症,Pasteurella species are gram-negative facultative anaerobic bacilli found in the animal's oral cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead to serious diseases including septic shock and meningitis mostly in infants and pregnant women.,,,"Pasteurella multocida [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pmu"">pmu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pmv"">pmv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pmul"">pmul</a>]
 Pasteurella canis
 Pasteurella multocida subsp septica
 Pasteurella stomatis
 Pasteurella dagmatis",,,,"Pasteurella are usually not susceptible to dicloxacillin, cephalexin, clindamycin, or erythromycin.
 Potential virulence factors include capsular lipopolysaccharide, a cytotoxin, and iron acquisition proteins.","ICD-11: 1B99
 ICD-10: A28.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010326"">D010326</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012766"">D012766</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6371440"">6371440</a>
 著者        Weber DJ, Wolfson JS, Swartz MN, Hooper DC
 タイトル      Pasteurella multocida infections. Report of 34 cases and review of the literature.
 雑誌        Medicine (Baltimore) 63:133-54 (1984)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19555903"">19555903</a>
 著者        Oehler RL, Velez AP, Mizrachi M, Lamarche J, Gompf S
 タイトル      Bite-related and septic syndromes caused by cats and dogs.
 雑誌        Lancet Infect Dis 9:439-47 (2009)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(09)70110-0"">10.1016/S1473-3099(09)70110-0</a>"
H00307,腸炎ビブリオ感染症,,,"Vibrio parahaemolyticus is a Gram-negative halophilic bacterium that naturally inhabits marine and estuarine environments. It is a well-recognized pathogen of both aquatic animals and humans. In the case of humans, it is often acquired through the consumption of raw or undercooked seafood, causing gastroenteritis with watery diarrhea.",感染症,,,"Vibrio parahaemolyticus [GN:vpa vpk]
 pore-forming toxin [KO:K11019]
 membrane-damaging toxin [KO:K11018]",,,,,"ICD-11: 1A01
 ICD-10: A05.3
 MeSH: D014735","PMID:19342185
 著者        Austin B
 タイトル      Vibrios as causal agents of zoonoses.
 雑誌        Vet Microbiol 140:310-7 (2010)
 DOI:10.1016/j.vetmic.2009.03.015
 PMID:20847516
 著者        Shimohata T, Takahashi A
 タイトル      Diarrhea induced by infection of Vibrio parahaemolyticus.
 雑誌        J Med Invest 57:179-82 (2010)
 DOI:10.2152/jmi.57.179","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00307"">H00307</a>",腸炎ビブリオ感染症,"Vibrio parahaemolyticus is a Gram-negative halophilic bacterium that naturally inhabits marine and estuarine environments. It is a well-recognized pathogen of both aquatic animals and humans. In the case of humans, it is often acquired through the consumption of raw or undercooked seafood, causing gastroenteritis with watery diarrhea.",,,"Vibrio parahaemolyticus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vpa"">vpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vpk"">vpk</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11019"">K11019</a>]
 membrane-damaging toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11018"">K11018</a>]",,,,,"ICD-11: 1A01
 ICD-10: A05.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014735"">D014735</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19342185"">19342185</a>
 著者        Austin B
 タイトル      Vibrios as causal agents of zoonoses.
 雑誌        Vet Microbiol 140:310-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.03.015"">10.1016/j.vetmic.2009.03.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20847516"">20847516</a>
 著者        Shimohata T, Takahashi A
 タイトル      Diarrhea induced by infection of Vibrio parahaemolyticus.
 雑誌        J Med Invest 57:179-82 (2010)
 DOI:<a href=""https://doi.org/10.2152/jmi.57.179"">10.2152/jmi.57.179</a>"
H00308,ビブリオ・バルニフィカス感染症,,,Vibrio vulnificus is a gram-negative bacillus found in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired by exposing open wounds to contaminated seawater.,感染症,,,"Vibrio vulnificus [GN:vvu vvy vvm]
 pore-forming toxin [KO:K10948 K10953]
 membrane-damaging toxin [KO:K11018]",,,,,"ICD-11: 1A01
 ICD-10: A05.9
 MeSH: C536348","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:21177133 (description, env_factor, drug)
 著者        Horseman MA, Surani S
 タイトル      A comprehensive review of Vibrio vulnificus: an important cause of severe sepsis and skin and soft-tissue infection.
 雑誌        Int J Infect Dis 15:e157-66 (2011)
 DOI:10.1016/j.ijid.2010.11.003
 PMID:17853628
 著者        Bross MH, Soch K, Morales R, Mitchell RB
 タイトル      Vibrio vulnificus infection: diagnosis and treatment.
 雑誌        Am Fam Physician 76:539-44 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00308"">H00308</a>",ビブリオ・バルニフィカス感染症,Vibrio vulnificus is a gram-negative bacillus found in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired by exposing open wounds to contaminated seawater.,,,"Vibrio vulnificus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vvu"">vvu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vvy"">vvy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vvm"">vvm</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10948"">K10948</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10953"">K10953</a>]
 membrane-damaging toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11018"">K11018</a>]",,,,,"ICD-11: 1A01
 ICD-10: A05.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536348"">C536348</a>","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21177133"">21177133</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Horseman MA, Surani S
 タイトル      A comprehensive review of Vibrio vulnificus: an important cause of severe sepsis and skin and soft-tissue infection.
 雑誌        Int J Infect Dis 15:e157-66 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2010.11.003"">10.1016/j.ijid.2010.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17853628"">17853628</a>
 著者        Bross MH, Soch K, Morales R, Mitchell RB
 タイトル      Vibrio vulnificus infection: diagnosis and treatment.
 雑誌        Am Fam Physician 76:539-44 (2007)"
H00309,多剤耐性アシネトバクター感染症,,,"Acinetobacter baumannii has emerged as a worldwide problem as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to almost all commercially available antimicrobials have been identified.",感染症,,,Acinetobacter baumannii [GN:aby abc abn abx abz abr abd abh abad abj abab abaj abk abau abw abal],,,,,"ICD-11: MG50.0
 ICD-10: A49.9
 MeSH: D000151","PMID:18444865
 著者        Maragakis LL, Perl TM
 タイトル      Acinetobacter baumannii: epidemiology, antimicrobial resistance, and treatment options.
 雑誌        Clin Infect Dis 46:1254-63 (2008)
 DOI:10.1086/529198
 PMID:21502736
 著者        Doughari HJ, Ndakidemi PA, Human IS, Benade S
 タイトル      The ecology, biology and pathogenesis of Acinetobacter spp.: an overview.
 雑誌        Microbes Environ 26:101-12 (2011)
 DOI:10.1264/jsme2.ME10179
 PMID:15280512
 著者        Jain R, Danziger LH
 タイトル      Multidrug-resistant Acinetobacter infections: an emerging challenge to clinicians.
 雑誌        Ann Pharmacother 38:1449-59 (2004)
 DOI:10.1345/aph.1D592
 PMID:18588496
 著者        Gootz TD, Marra A
 タイトル      Acinetobacter baumannii: an emerging multidrug-resistant threat.
 雑誌        Expert Rev Anti Infect Ther 6:309-25 (2008)
 DOI:10.1586/14787210.6.3.309
 PMID:16238638
 著者        Hanlon GW
 タイトル      The emergence of multidrug resistant Acinetobacter species: a major concern in the hospital setting.
 雑誌        Lett Appl Microbiol 41:375-8 (2005)
 DOI:10.1111/j.1472-765X.2005.01791.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00309"">H00309</a>",多剤耐性アシネトバクター感染症,"Acinetobacter baumannii has emerged as a worldwide problem as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to almost all commercially available antimicrobials have been identified.",,,"Acinetobacter baumannii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aby"">aby</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abc"">abc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abn"">abn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abx"">abx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abz"">abz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abr"">abr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abd"">abd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abh"">abh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abad"">abad</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abj"">abj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abab"">abab</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abaj"">abaj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abk"">abk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abau"">abau</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abw"">abw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abal"">abal</a>]",,,,,"ICD-11: MG50.0
 ICD-10: A49.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000151"">D000151</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18444865"">18444865</a>
 著者        Maragakis LL, Perl TM
 タイトル      Acinetobacter baumannii: epidemiology, antimicrobial resistance, and treatment options.
 雑誌        Clin Infect Dis 46:1254-63 (2008)
 DOI:<a href=""https://doi.org/10.1086/529198"">10.1086/529198</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21502736"">21502736</a>
 著者        Doughari HJ, Ndakidemi PA, Human IS, Benade S
 タイトル      The ecology, biology and pathogenesis of Acinetobacter spp.: an overview.
 雑誌        Microbes Environ 26:101-12 (2011)
 DOI:<a href=""https://doi.org/10.1264/jsme2.ME10179"">10.1264/jsme2.ME10179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15280512"">15280512</a>
 著者        Jain R, Danziger LH
 タイトル      Multidrug-resistant Acinetobacter infections: an emerging challenge to clinicians.
 雑誌        Ann Pharmacother 38:1449-59 (2004)
 DOI:<a href=""https://doi.org/10.1345/aph.1D592"">10.1345/aph.1D592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18588496"">18588496</a>
 著者        Gootz TD, Marra A
 タイトル      Acinetobacter baumannii: an emerging multidrug-resistant threat.
 雑誌        Expert Rev Anti Infect Ther 6:309-25 (2008)
 DOI:<a href=""https://doi.org/10.1586/14787210.6.3.309"">10.1586/14787210.6.3.309</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16238638"">16238638</a>
 著者        Hanlon GW
 タイトル      The emergence of multidrug resistant Acinetobacter species: a major concern in the hospital setting.
 雑誌        Lett Appl Microbiol 41:375-8 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1472-765X.2005.01791.x"">10.1111/j.1472-765X.2005.01791.x</a>"
H00310,Q熱,,,"Q fever is a worldwide zoonosis caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection in humans is often asymptomatic, but may appear either in an acute form accompanied mainly by fever (self-limited flu-like disease, pneumonia, or hepatitis) or in a chronic form (mainly endocarditis).",感染症,,,Coxiella burnetii [GN:cbu cbs cbg cbc],,,"レボフロキサシン水和物 [DR:D00588]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]",Vector: Rhipicephalus sanguineus (brown dog tick),"ICD-11: 1C33
 ICD-10: A78
 MeSH: D011778
 MedlinePlus: 000611 001337","PMID:22125041
 著者        Delsing CE, Warris A, Bleeker-Rovers CP
 タイトル      Q fever: still more queries than answers.
 雑誌        Adv Exp Med Biol 719:133-43 (2011)
 DOI:10.1007/978-1-4614-0204-6_12
 PMID:12693856
 著者        Kovacova E, Kazar J
 タイトル      Q fever--still a query and underestimated infectious disease.
 雑誌        Acta Virol 46:193-210 (2002)
 PMID:16481501
 著者        Kazar J
 タイトル      Coxiella burnetii infection.
 雑誌        Ann N Y Acad Sci 1063:105-14 (2005)
 DOI:10.1196/annals.1355.018
 PMID:15196898
 著者        Woldehiwet Z
 タイトル      Q fever (coxiellosis): epidemiology and pathogenesis.
 雑誌        Res Vet Sci 77:93-100 (2004)
 DOI:10.1016/j.rvsc.2003.09.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00310"">H00310</a>",Q熱,"Q fever is a worldwide zoonosis caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection in humans is often asymptomatic, but may appear either in an acute form accompanied mainly by fever (self-limited flu-like disease, pneumonia, or hepatitis) or in a chronic form (mainly endocarditis).",,,"Coxiella burnetii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbu"">cbu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbs"">cbs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbg"">cbg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbc"">cbc</a>]",,,"レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]",Vector: Rhipicephalus sanguineus (brown dog tick),"ICD-11: 1C33
 ICD-10: A78
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011778"">D011778</a>
 MedlinePlus: 000611 001337","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22125041"">22125041</a>
 著者        Delsing CE, Warris A, Bleeker-Rovers CP
 タイトル      Q fever: still more queries than answers.
 雑誌        Adv Exp Med Biol 719:133-43 (2011)
 DOI:<a href=""https://doi.org/10.1007/978-1-4614-0204-6_12"">10.1007/978-1-4614-0204-6_12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12693856"">12693856</a>
 著者        Kovacova E, Kazar J
 タイトル      Q fever--still a query and underestimated infectious disease.
 雑誌        Acta Virol 46:193-210 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16481501"">16481501</a>
 著者        Kazar J
 タイトル      Coxiella burnetii infection.
 雑誌        Ann N Y Acad Sci 1063:105-14 (2005)
 DOI:<a href=""https://doi.org/10.1196/annals.1355.018"">10.1196/annals.1355.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15196898"">15196898</a>
 著者        Woldehiwet Z
 タイトル      Q fever (coxiellosis): epidemiology and pathogenesis.
 雑誌        Res Vet Sci 77:93-100 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.rvsc.2003.09.001"">10.1016/j.rvsc.2003.09.001</a>"
H00311,レジオネラ症,,,"Legionnaires disease (LD), caused by Gram-negative Legionella spp., can be nosocomial, community acquired or travel related. L. pneumophila is the most common cause of LD. The source of LD is potable water systems that become colonized by the microorganism, transmitted by inhalation of contaminated aerosols and aspiration. Classically, it can cause two different forms of disease in humans: LD, with an incubation period of 2-10 days, which is a multisystem illness that involves the lungs, causing pneumonia, and can cause neurological symptoms, diarrhea and high mortality (up to 50%), and Pontiac fever, with a shorter incubation period of 1-2 days, which is an acute, self-limited, influenza-like disease that does not cause pneumonia. Patients who are at risk for infection include the immunosuppressed, especially those submitted to transplantation (mainly of solid organs), those with chronic lung disease, smokers, and the elderly.",感染症,,,"Legionella pneumophila [GN:lpn lpf lpp lpc lpa lpe]
 Legionella longbeachae [GN:llo]
 Legionella sainthelensi [GN:lsh]
 pore-forming toxin [KO:K11022]",,,,,"ICD-11: 1C19
 ICD-10: A48.1 A48.2
 MeSH: D007876 D007877
 MedlinePlus: 000616","PMID:12734447
 著者        Roig J, Sabria M, Pedro-Botet ML
 タイトル      Legionella spp.: community acquired and nosocomial infections.
 雑誌        Curr Opin Infect Dis 16:145-51 (2003)
 DOI:10.1097/01.aco.0000065081.06965.cf
 PMID:20051846
 著者        Carratala J, Garcia-Vidal C
 タイトル      An update on Legionella.
 雑誌        Curr Opin Infect Dis 23:152-7 (2010)
 DOI:10.1097/QCO.0b013e328336835b
 PMID:19917208
 著者        Blyth CC, Adams DN, Chen SC
 タイトル      Diagnostic and typing methods for investigating Legionella infection.
 雑誌        N S W Public Health Bull 20:157-61 (2009)
 DOI:10.1071/NB08062
 PMID:19622057
 著者        Levin AS
 タイトル      Nosocomial legionellosis: prevention and management.
 雑誌        Expert Rev Anti Infect Ther 7:57-68 (2009)
 DOI:10.1586/14787210.7.1.57","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00311"">H00311</a>",レジオネラ症,"Legionnaires disease (LD), caused by Gram-negative Legionella spp., can be nosocomial, community acquired or travel related. L. pneumophila is the most common cause of LD. The source of LD is potable water systems that become colonized by the microorganism, transmitted by inhalation of contaminated aerosols and aspiration. Classically, it can cause two different forms of disease in humans: LD, with an incubation period of 2-10 days, which is a multisystem illness that involves the lungs, causing pneumonia, and can cause neurological symptoms, diarrhea and high mortality (up to 50%), and Pontiac fever, with a shorter incubation period of 1-2 days, which is an acute, self-limited, influenza-like disease that does not cause pneumonia. Patients who are at risk for infection include the immunosuppressed, especially those submitted to transplantation (mainly of solid organs), those with chronic lung disease, smokers, and the elderly.",,,"Legionella pneumophila [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpn"">lpn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpf"">lpf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpp"">lpp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpc"">lpc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpa"">lpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpe"">lpe</a>]
 Legionella longbeachae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:llo"">llo</a>]
 Legionella sainthelensi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lsh"">lsh</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11022"">K11022</a>]",,,,,"ICD-11: 1C19
 ICD-10: A48.1 A48.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007876"">D007876</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007877"">D007877</a>
 MedlinePlus: 000616","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12734447"">12734447</a>
 著者        Roig J, Sabria M, Pedro-Botet ML
 タイトル      Legionella spp.: community acquired and nosocomial infections.
 雑誌        Curr Opin Infect Dis 16:145-51 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.aco.0000065081.06965.cf"">10.1097/01.aco.0000065081.06965.cf</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20051846"">20051846</a>
 著者        Carratala J, Garcia-Vidal C
 タイトル      An update on Legionella.
 雑誌        Curr Opin Infect Dis 23:152-7 (2010)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e328336835b"">10.1097/QCO.0b013e328336835b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19917208"">19917208</a>
 著者        Blyth CC, Adams DN, Chen SC
 タイトル      Diagnostic and typing methods for investigating Legionella infection.
 雑誌        N S W Public Health Bull 20:157-61 (2009)
 DOI:<a href=""https://doi.org/10.1071/NB08062"">10.1071/NB08062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19622057"">19622057</a>
 著者        Levin AS
 タイトル      Nosocomial legionellosis: prevention and management.
 雑誌        Expert Rev Anti Infect Ther 7:57-68 (2009)
 DOI:<a href=""https://doi.org/10.1586/14787210.7.1.57"">10.1586/14787210.7.1.57</a>"
H00312,野兎病,,,"Tularemia is a rare zoonotic infection caused by the bacterium Francisella tularensis. It occurs in North America, Europe, and Asia. The most common clinical presentation is ulceroglandular tularemia with chills, fever, head and muscle pain, and prostration. Some people may develop pneumonia or septicemia. Rabbits serve as an important reservoir host for F. tularensis.",感染症,,,Francisella tularensis [GN:ftu ftw ftr fth fta fts],,,"クロラムフェニコール [DR:D00104]
 ノルフロキサシン [DR:D00210]
 レボフロキサシン水和物 [DR:D00588]
 テトラサイクリン塩酸塩 [DR:D02122]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 ストレプトマイシン硫酸塩 [DR:D01350]",Vector: Dermacentor reticulatus and Ixodes ricinus (tick),"ICD-11: 1B94
 ICD-10: A21
 MeSH: D014406
 MedlinePlus: 000856","PMID:19713053
 著者        Foley JE, Nieto NC
 タイトル      Tularemia.
 雑誌        Vet Microbiol 140:332-8 (2010)
 DOI:10.1016/j.vetmic.2009.07.017
 PMID:18755386
 著者        Nigrovic LE, Wingerter SL
 タイトル      Tularemia.
 雑誌        Infect Dis Clin North Am 22:489-504, ix (2008)
 DOI:10.1016/j.idc.2008.03.004
 PMID:17435120
 著者        Keim P, Johansson A, Wagner DM
 タイトル      Molecular epidemiology, evolution, and ecology of Francisella.
 雑誌        Ann N Y Acad Sci 1105:30-66 (2007)
 DOI:10.1196/annals.1409.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00312"">H00312</a>",野兎病,"Tularemia is a rare zoonotic infection caused by the bacterium Francisella tularensis. It occurs in North America, Europe, and Asia. The most common clinical presentation is ulceroglandular tularemia with chills, fever, head and muscle pain, and prostration. Some people may develop pneumonia or septicemia. Rabbits serve as an important reservoir host for F. tularensis.",,,"Francisella tularensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ftu"">ftu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ftw"">ftw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ftr"">ftr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:fth"">fth</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:fta"">fta</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:fts"">fts</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]",Vector: Dermacentor reticulatus and Ixodes ricinus (tick),"ICD-11: 1B94
 ICD-10: A21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014406"">D014406</a>
 MedlinePlus: 000856","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19713053"">19713053</a>
 著者        Foley JE, Nieto NC
 タイトル      Tularemia.
 雑誌        Vet Microbiol 140:332-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.07.017"">10.1016/j.vetmic.2009.07.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18755386"">18755386</a>
 著者        Nigrovic LE, Wingerter SL
 タイトル      Tularemia.
 雑誌        Infect Dis Clin North Am 22:489-504, ix (2008)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2008.03.004"">10.1016/j.idc.2008.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17435120"">17435120</a>
 著者        Keim P, Johansson A, Wagner DM
 タイトル      Molecular epidemiology, evolution, and ecology of Francisella.
 雑誌        Ann N Y Acad Sci 1105:30-66 (2007)
 DOI:<a href=""https://doi.org/10.1196/annals.1409.011"">10.1196/annals.1409.011</a>"
H00313,多剤耐性緑膿菌感染症,,,"Pseudomonas aeruginosa is an opportunistic pathogen that may cause severe invasive diseases in critically ill patients. In the 21st century, when the life expectancy of highly susceptible immunocompromised groups has been extended in most countries, P. aeruginosa plays an increasingly prominent role in hospital infections. This organism shows a remarkable capacity to resist antibiotics, either intrinsically (because of constitutive expression of beta-lactamases and efflux pumps, combined with low permeability of the outer-membrane) or following acquisition of resistance genes (e.g., genes for beta-lactamases, or enzymes inactivating aminoglycosides or modifying their target), over-expression of efflux pumps, decreased expression of porins, or mutations in quinolone targets. These mechanisms mediate the multidrug-resistant (MDR) phenotype in P. aeruginosa.",感染症,,,Pseudomonas aeruginosa [GN:pap pnc prp],,,,"P. aeruginosa genes containing mutations:
 nalC [KO:K18130]
 nalD [KO:K18135]","ICD-11: MG50.8
 ICD-10: A49.8 J15.1
 MeSH: D011552","PMID:20715920
 著者        Hirsch EB, Tam VH
 タイトル      Impact of multidrug-resistant Pseudomonas aeruginosa infection on patient outcomes.
 雑誌        Expert Rev Pharmacoecon Outcomes Res 10:441-51 (2010)
 DOI:10.1586/erp.10.49
 PMID:17266725
 著者        Mesaros N, Nordmann P, Plesiat P, Roussel-Delvallez M, Van Eldere J, Glupczynski Y, Van Laethem Y, Jacobs F, Lebecque P, Malfroot A, Tulkens PM, Van Bambeke F
 タイトル      Pseudomonas aeruginosa: resistance and therapeutic options at the turn of the new millennium.
 雑誌        Clin Microbiol Infect 13:560-78 (2007)
 DOI:10.1111/j.1469-0691.2007.01681.x
 PMID:24409175
 著者        Morita Y, Tomida J, Kawamura Y
 タイトル      Responses of Pseudomonas aeruginosa to antimicrobials.
 雑誌        Front Microbiol 4:422 (2014)
 DOI:10.3389/fmicb.2013.00422
 PMID:20107499 (pathogen)
 著者        Roy PH, Tetu SG, Larouche A, Elbourne L, Tremblay S, Ren Q, Dodson R, Harkins D, Shay R, Watkins K, Mahamoud Y, Paulsen IT
 タイトル      Complete genome sequence of the multiresistant taxonomic outlier Pseudomonas aeruginosa PA7.
 雑誌        PLoS One 5:e8842 (2010)
 DOI:10.1371/journal.pone.0008842
 PMID:22123763 (pathogen)
 著者        Miyoshi-Akiyama T, Kuwahara T, Tada T, Kitao T, Kirikae T
 タイトル      Complete genome sequence of highly multidrug-resistant Pseudomonas aeruginosa NCGM2.S1, a representative strain of a cluster endemic to Japan.
 雑誌        J Bacteriol 193:7010 (2011)
 DOI:10.1128/JB.06312-11
 PMID:23908295 (pathogen)
 著者        Jeukens J, Boyle B, Bianconi I, Kukavica-Ibrulj I, Tummler B, Bragonzi A, Levesque RC
 タイトル      Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73.
 雑誌        Genome Announc 1:e00568-13 (2013)
 DOI:10.1128/genomeA.00568-13
 PMID:25070493 (drug)
 著者        Nakamura I, Yamaguchi T, Tsukimori A, Sato A, Fukushima S, Matsumoto T
 タイトル      New options of antibiotic combination therapy for multidrug-resistant Pseudomonas aeruginosa.
 雑誌        Eur J Clin Microbiol Infect Dis 34:83-7 (2015)
 DOI:10.1007/s10096-014-2192-x
 PMID:16641429 (comment)
 著者        Quale J, Bratu S, Gupta J, Landman D
 タイトル      Interplay of efflux system, ampC, and oprD expression in carbapenem resistance of Pseudomonas aeruginosa clinical isolates.
 雑誌        Antimicrob Agents Chemother 50:1633-41 (2006)
 DOI:10.1128/AAC.50.5.1633-1641.2006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00313"">H00313</a>",多剤耐性緑膿菌感染症,"Pseudomonas aeruginosa is an opportunistic pathogen that may cause severe invasive diseases in critically ill patients. In the 21st century, when the life expectancy of highly susceptible immunocompromised groups has been extended in most countries, P. aeruginosa plays an increasingly prominent role in hospital infections. This organism shows a remarkable capacity to resist antibiotics, either intrinsically (because of constitutive expression of beta-lactamases and efflux pumps, combined with low permeability of the outer-membrane) or following acquisition of resistance genes (e.g., genes for beta-lactamases, or enzymes inactivating aminoglycosides or modifying their target), over-expression of efflux pumps, decreased expression of porins, or mutations in quinolone targets. These mechanisms mediate the multidrug-resistant (MDR) phenotype in P. aeruginosa.",,,"Pseudomonas aeruginosa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pap"">pap</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pnc"">pnc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:prp"">prp</a>]",,,,"P. aeruginosa genes containing mutations:
 nalC [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18130"">K18130</a>]
 nalD [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18135"">K18135</a>]","ICD-11: MG50.8
 ICD-10: A49.8 J15.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011552"">D011552</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20715920"">20715920</a>
 著者        Hirsch EB, Tam VH
 タイトル      Impact of multidrug-resistant Pseudomonas aeruginosa infection on patient outcomes.
 雑誌        Expert Rev Pharmacoecon Outcomes Res 10:441-51 (2010)
 DOI:<a href=""https://doi.org/10.1586/erp.10.49"">10.1586/erp.10.49</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17266725"">17266725</a>
 著者        Mesaros N, Nordmann P, Plesiat P, Roussel-Delvallez M, Van Eldere J, Glupczynski Y, Van Laethem Y, Jacobs F, Lebecque P, Malfroot A, Tulkens PM, Van Bambeke F
 タイトル      Pseudomonas aeruginosa: resistance and therapeutic options at the turn of the new millennium.
 雑誌        Clin Microbiol Infect 13:560-78 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2007.01681.x"">10.1111/j.1469-0691.2007.01681.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24409175"">24409175</a>
 著者        Morita Y, Tomida J, Kawamura Y
 タイトル      Responses of Pseudomonas aeruginosa to antimicrobials.
 雑誌        Front Microbiol 4:422 (2014)
 DOI:<a href=""https://doi.org/10.3389/fmicb.2013.00422"">10.3389/fmicb.2013.00422</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20107499"">20107499</a> (pathogen)
 著者        Roy PH, Tetu SG, Larouche A, Elbourne L, Tremblay S, Ren Q, Dodson R, Harkins D, Shay R, Watkins K, Mahamoud Y, Paulsen IT
 タイトル      Complete genome sequence of the multiresistant taxonomic outlier Pseudomonas aeruginosa PA7.
 雑誌        PLoS One 5:e8842 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0008842"">10.1371/journal.pone.0008842</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22123763"">22123763</a> (pathogen)
 著者        Miyoshi-Akiyama T, Kuwahara T, Tada T, Kitao T, Kirikae T
 タイトル      Complete genome sequence of highly multidrug-resistant Pseudomonas aeruginosa NCGM2.S1, a representative strain of a cluster endemic to Japan.
 雑誌        J Bacteriol 193:7010 (2011)
 DOI:<a href=""https://doi.org/10.1128/JB.06312-11"">10.1128/JB.06312-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23908295"">23908295</a> (pathogen)
 著者        Jeukens J, Boyle B, Bianconi I, Kukavica-Ibrulj I, Tummler B, Bragonzi A, Levesque RC
 タイトル      Complete Genome Sequence of Persistent Cystic Fibrosis Isolate Pseudomonas aeruginosa Strain RP73.
 雑誌        Genome Announc 1:e00568-13 (2013)
 DOI:<a href=""https://doi.org/10.1128/genomeA.00568-13"">10.1128/genomeA.00568-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25070493"">25070493</a> (drug)
 著者        Nakamura I, Yamaguchi T, Tsukimori A, Sato A, Fukushima S, Matsumoto T
 タイトル      New options of antibiotic combination therapy for multidrug-resistant Pseudomonas aeruginosa.
 雑誌        Eur J Clin Microbiol Infect Dis 34:83-7 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10096-014-2192-x"">10.1007/s10096-014-2192-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16641429"">16641429</a> (comment)
 著者        Quale J, Bratu S, Gupta J, Landman D
 タイトル      Interplay of efflux system, ampC, and oprD expression in carbapenem resistance of Pseudomonas aeruginosa clinical isolates.
 雑誌        Antimicrob Agents Chemother 50:1633-41 (2006)
 DOI:<a href=""https://doi.org/10.1128/AAC.50.5.1633-1641.2006"">10.1128/AAC.50.5.1633-1641.2006</a>"
H00314,髄膜炎菌感染症,,,"Neisseria meningitidis is a gram-negative bacterial pathogen that specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant to infection through acquired immunity. In susceptible individuals, it causes meningococcal meningitis and severe septicemia.",感染症,,,"Neisseria meningitidis serogroup A [GN:nma nmw nmx]
 Neisseria meningitidis serogroup B [GN:nme nmh nmd nmm nms nmq nmz]
 Neisseria meningitidis serogroup C [GN:nmc nmn nmt]",,,4価髄膜炎菌ワクチン [DR:D10535],Antibiotic resistance in N. meningitidis ash been reported.,"ICD-11: 1C1C
 ICD-10: A39
 MeSH: D008589","PMID:19287450
 著者        Virji M
 タイトル      Pathogenic neisseriae: surface modulation, pathogenesis and infection control.
 雑誌        Nat Rev Microbiol 7:274-86 (2009)
 DOI:10.1038/nrmicro2097
 PMID:12150701
 著者        Foster C, Nadel S
 タイトル      New therapies and vaccines for bacterial meningitis.
 雑誌        Expert Opin Investig Drugs 11:1051-60 (2002)
 DOI:10.1517/13543784.11.8.1051
 PMID:22085175
 著者        Safadi MA, McIntosh ED
 タイトル      Epidemiology and prevention of meningococcal disease: a critical appraisal of vaccine policies.
 雑誌        Expert Rev Vaccines 10:1717-30 (2011)
 DOI:10.1586/erv.11.159
 PMID:21832882
 著者        Yogev R, Tan T
 タイトル      Meningococcal disease: the advances and challenges of meningococcal disease prevention.
 雑誌        Hum Vaccin 7:828-37 (2011)
 DOI:10.4161/hv.7.8.16270","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00314"">H00314</a>",髄膜炎菌感染症,"Neisseria meningitidis is a gram-negative bacterial pathogen that specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant to infection through acquired immunity. In susceptible individuals, it causes meningococcal meningitis and severe septicemia.",,,"Neisseria meningitidis serogroup A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nma"">nma</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmw"">nmw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmx"">nmx</a>]
 Neisseria meningitidis serogroup B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nme"">nme</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmh"">nmh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmd"">nmd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmm"">nmm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nms"">nms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmq"">nmq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmz"">nmz</a>]
 Neisseria meningitidis serogroup C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmc"">nmc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmn"">nmn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nmt"">nmt</a>]",,,"4価髄膜炎菌ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10535"">D10535</a>]",Antibiotic resistance in N. meningitidis ash been reported.,"ICD-11: 1C1C
 ICD-10: A39
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008589"">D008589</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19287450"">19287450</a>
 著者        Virji M
 タイトル      Pathogenic neisseriae: surface modulation, pathogenesis and infection control.
 雑誌        Nat Rev Microbiol 7:274-86 (2009)
 DOI:<a href=""https://doi.org/10.1038/nrmicro2097"">10.1038/nrmicro2097</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12150701"">12150701</a>
 著者        Foster C, Nadel S
 タイトル      New therapies and vaccines for bacterial meningitis.
 雑誌        Expert Opin Investig Drugs 11:1051-60 (2002)
 DOI:<a href=""https://doi.org/10.1517/13543784.11.8.1051"">10.1517/13543784.11.8.1051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22085175"">22085175</a>
 著者        Safadi MA, McIntosh ED
 タイトル      Epidemiology and prevention of meningococcal disease: a critical appraisal of vaccine policies.
 雑誌        Expert Rev Vaccines 10:1717-30 (2011)
 DOI:<a href=""https://doi.org/10.1586/erv.11.159"">10.1586/erv.11.159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21832882"">21832882</a>
 著者        Yogev R, Tan T
 タイトル      Meningococcal disease: the advances and challenges of meningococcal disease prevention.
 雑誌        Hum Vaccin 7:828-37 (2011)
 DOI:<a href=""https://doi.org/10.4161/hv.7.8.16270"">10.4161/hv.7.8.16270</a>"
H00315,"淋菌感染症;
 淋病",,,Gonorrhea is an ancient disease caused by the strict human pathogen Neisseria gonorrhoeae. It remains a major public health concern and multidrug-resistant forms of gonorrhea have been discovered.,感染症,,,Neisseria gonorrhoeae [GN:ngo ngk],,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 ミノサイクリン塩酸塩 [DR:D00850]
 ベンジルペニシリンカリウム [DR:D01053]
 スペクチノマイシン塩酸塩水和物 [DR:D00869]
 アンピシリン水和物 [DR:D01251]
 アンピシリンナトリウム [DR:D02119]
 アモキシシリン水和物 [DR:D00229]
 バカンピシリン塩酸塩 [DR:D00927]
 スルタミシリントシル酸水和物 [DR:D01668]
 セファレキシン [DR:D00263]
 セフトリアキソンナトリウム水和物 [DR:D00924]
 アモキシシリン水和物・クラブラン酸カリウム [DR:D06485]
 エリスロマイシン [DR:D00140]
 エリスロマイシンエチルコハク酸エステル [DR:D01361]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 カナマイシン硫酸塩 [DR:D03262]",,"ICD-11: 1A70 1A71 1A72
 ICD-10: A54
 MeSH: D006069
 MedlinePlus: 007267","PMID:22163356 (drug)
 著者        Campos-Outcalt D
 タイトル      CDC update on gonorrhea: expand treatment to limit resistance.
 雑誌        J Fam Pract 60:736-40 (2011)
 PMID:22239555
 著者        Unemo M, Shafer WM
 タイトル      Antibiotic resistance in Neisseria gonorrhoeae: origin, evolution, and lessons learned for the future.
 雑誌        Ann N Y Acad Sci 1230:E19-28 (2011)
 DOI:10.1111/j.1749-6632.2011.06215.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00315"">H00315</a>","淋菌感染症;
 淋病",Gonorrhea is an ancient disease caused by the strict human pathogen Neisseria gonorrhoeae. It remains a major public health concern and multidrug-resistant forms of gonorrhea have been discovered.,,,"Neisseria gonorrhoeae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ngo"">ngo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ngk"">ngk</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 スペクチノマイシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00869"">D00869</a>]
 アンピシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01251"">D01251</a>]
 アンピシリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02119"">D02119</a>]
 アモキシシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00229"">D00229</a>]
 バカンピシリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00927"">D00927</a>]
 スルタミシリントシル酸水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01668"">D01668</a>]
 セファレキシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00263"">D00263</a>]
 セフトリアキソンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00924"">D00924</a>]
 アモキシシリン水和物・クラブラン酸カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06485"">D06485</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンエチルコハク酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01361"">D01361</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 カナマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03262"">D03262</a>]",,"ICD-11: 1A70 1A71 1A72
 ICD-10: A54
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006069"">D006069</a>
 MedlinePlus: 007267","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22163356"">22163356</a> (drug)
 著者        Campos-Outcalt D
 タイトル      CDC update on gonorrhea: expand treatment to limit resistance.
 雑誌        J Fam Pract 60:736-40 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22239555"">22239555</a>
 著者        Unemo M, Shafer WM
 タイトル      Antibiotic resistance in Neisseria gonorrhoeae: origin, evolution, and lessons learned for the future.
 雑誌        Ann N Y Acad Sci 1230:E19-28 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2011.06215.x"">10.1111/j.1749-6632.2011.06215.x</a>"
H00316,鼻疽,,,"Glanders is an infectious disease of equines that can be transmitted to humans. It is usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms, and farmers. The causative agent of glanders is Burkholderia mallei, a gram-negative aerobic bacterium. In equines and humans, B. mallei infection can present as either nasal-pulmonary infections (glanders) or cutaneous infections (farcy).",感染症,,,Burkholderia mallei [GN:bma bmn],,,,,"ICD-11: 1B92
 ICD-10: A24.0
 MeSH: D005896","PMID:19585782
 著者        Larsen JC, Johnson NH
 タイトル      Pathogenesis of Burkholderia pseudomallei and Burkholderia mallei.
 雑誌        Mil Med 174:647-51 (2009)
 PMID:18221181
 著者        Gilad J
 タイトル      Burkholderia mallei and Burkholderia pseudomallei: the causative micro-organisms of glanders and melioidosis.
 雑誌        Recent Pat Antiinfect Drug Discov 2:233-41 (2007)
 DOI:10.2174/157489107782497335
 PMID:20528691
 著者        Galyov EE, Brett PJ, DeShazer D
 タイトル      Molecular insights into Burkholderia pseudomallei and Burkholderia mallei pathogenesis.
 雑誌        Annu Rev Microbiol 64:495-517 (2010)
 DOI:10.1146/annurev.micro.112408.134030
 PMID:22398248
 著者        Waag DM, England MJ, DeShazer D
 タイトル      Humoral immune responses in a human case of glanders.
 雑誌        Clin Vaccine Immunol 19:814-6 (2012)
 DOI:10.1128/CVI.05567-11","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00316"">H00316</a>",鼻疽,"Glanders is an infectious disease of equines that can be transmitted to humans. It is usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms, and farmers. The causative agent of glanders is Burkholderia mallei, a gram-negative aerobic bacterium. In equines and humans, B. mallei infection can present as either nasal-pulmonary infections (glanders) or cutaneous infections (farcy).",,,"Burkholderia mallei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bma"">bma</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmn"">bmn</a>]",,,,,"ICD-11: 1B92
 ICD-10: A24.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005896"">D005896</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19585782"">19585782</a>
 著者        Larsen JC, Johnson NH
 タイトル      Pathogenesis of Burkholderia pseudomallei and Burkholderia mallei.
 雑誌        Mil Med 174:647-51 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18221181"">18221181</a>
 著者        Gilad J
 タイトル      Burkholderia mallei and Burkholderia pseudomallei: the causative micro-organisms of glanders and melioidosis.
 雑誌        Recent Pat Antiinfect Drug Discov 2:233-41 (2007)
 DOI:<a href=""https://doi.org/10.2174/157489107782497335"">10.2174/157489107782497335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20528691"">20528691</a>
 著者        Galyov EE, Brett PJ, DeShazer D
 タイトル      Molecular insights into Burkholderia pseudomallei and Burkholderia mallei pathogenesis.
 雑誌        Annu Rev Microbiol 64:495-517 (2010)
 DOI:<a href=""https://doi.org/10.1146/annurev.micro.112408.134030"">10.1146/annurev.micro.112408.134030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22398248"">22398248</a>
 著者        Waag DM, England MJ, DeShazer D
 タイトル      Humoral immune responses in a human case of glanders.
 雑誌        Clin Vaccine Immunol 19:814-6 (2012)
 DOI:<a href=""https://doi.org/10.1128/CVI.05567-11"">10.1128/CVI.05567-11</a>"
H00317,類鼻疽,,,"Melioidosis is an infection caused by the gram-negative soil-dwelling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia, and hepatic and splenic abscesses.",感染症,,,Burkholderia pseudomallei [GN:bps bpm bpl bpd bpr bpse bpz bpq],,,,,"ICD-11: 1C42
 ICD-10: A24.1 A24.2 A24.3 A24.4
 MeSH: D008554","PMID:21558159
 著者        Limmathurotsakul D, Peacock SJ
 タイトル      Melioidosis: a clinical overview.
 雑誌        Br Med Bull 99:125-39 (2011)
 DOI:10.1093/bmb/ldr007
 PMID:16541135
 著者        Wiersinga WJ, van der Poll T, White NJ, Day NP, Peacock SJ
 タイトル      Melioidosis: insights into the pathogenicity of Burkholderia pseudomallei.
 雑誌        Nat Rev Microbiol 4:272-82 (2006)
 DOI:10.1038/nrmicro1385
 PMID:15831829
 著者        Cheng AC, Currie BJ
 タイトル      Melioidosis: epidemiology, pathophysiology, and management.
 雑誌        Clin Microbiol Rev 18:383-416 (2005)
 DOI:10.1128/CMR.18.2.383-416.2005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00317"">H00317</a>",類鼻疽,"Melioidosis is an infection caused by the gram-negative soil-dwelling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia, and hepatic and splenic abscesses.",,,"Burkholderia pseudomallei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bps"">bps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpm"">bpm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpl"">bpl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpd"">bpd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpr"">bpr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpse"">bpse</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpz"">bpz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpq"">bpq</a>]",,,,,"ICD-11: 1C42
 ICD-10: A24.1 A24.2 A24.3 A24.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008554"">D008554</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21558159"">21558159</a>
 著者        Limmathurotsakul D, Peacock SJ
 タイトル      Melioidosis: a clinical overview.
 雑誌        Br Med Bull 99:125-39 (2011)
 DOI:<a href=""https://doi.org/10.1093/bmb/ldr007"">10.1093/bmb/ldr007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16541135"">16541135</a>
 著者        Wiersinga WJ, van der Poll T, White NJ, Day NP, Peacock SJ
 タイトル      Melioidosis: insights into the pathogenicity of Burkholderia pseudomallei.
 雑誌        Nat Rev Microbiol 4:272-82 (2006)
 DOI:<a href=""https://doi.org/10.1038/nrmicro1385"">10.1038/nrmicro1385</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15831829"">15831829</a>
 著者        Cheng AC, Currie BJ
 タイトル      Melioidosis: epidemiology, pathophysiology, and management.
 雑誌        Clin Microbiol Rev 18:383-416 (2005)
 DOI:<a href=""https://doi.org/10.1128/CMR.18.2.383-416.2005"">10.1128/CMR.18.2.383-416.2005</a>"
H00319,百日咳,,,"Pertussis, or whooping cough, caused by the gram-negative bacillus Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged worldwide, causing approximately 300 000 deaths each year. Waning immunity after childhood immunization has resulted in a growing pool of susceptible adolescents and adults who are capable of transmitting pertussis to vulnerable unvaccinated or incompletely vaccinated infants. The hallmark symptoms of pertussis are paroxysmal coughing with whooping and post-tussive vomiting. Persistent coughing may last for weeks to months with a gradual decrease in frequency and severity. However, it should be noted that B. pertussis infections, particularly in hosts with partial immunity to the bacterium, may also follow a much milder or subclinical course. Complications that are frequently associated with classical pertussis include pneumonia, otitis media, seizures, encephalopathy, and (brain) hemorrhages.",感染症,,,"Bordetella pertussis [GN:bpe bpc bpet]
 Bordetella parapertussis [GN:bpa]
 モジュール     M00574  Pertussis pathogenicity signature, pertussis toxin
 M00575  Pertussis pathogenicity signature, T1SS",,,"クロラムフェニコール [DR:D00104]
 デキストロメトルファン臭化水素酸塩水和物・クレゾールスルホン酸カリウム [DR:D04340]
 テトラサイクリン塩酸塩 [DR:D02122]
 アドレナリン [DR:D00095]
 半夏厚朴湯エキス [DR:D07032]
 セフジトレンピボキシル [DR:D01628]
 エリスロマイシン [DR:D00140]
 エリスロマイシンエチルコハク酸エステル [DR:D01361]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 クラリスロマイシン [DR:D00276]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 カナマイシン硫酸塩 [DR:D03262]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:D05356]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:D10214]",,"ICD-11: 1C12
 ICD-10: A37
 MeSH: D014917
 MedlinePlus: 001561","PMID:21204863
 著者        de Gouw D, Diavatopoulos DA, Bootsma HJ, Hermans PW, Mooi FR
 タイトル      Pertussis: a matter of immune modulation.
 雑誌        FEMS Microbiol Rev 35:441-74 (2011)
 DOI:10.1111/j.1574-6976.2010.00257.x
 PMID:19879977
 著者        Mooi FR
 タイトル      Bordetella pertussis and vaccination: the persistence of a genetically monomorphic pathogen.
 雑誌        Infect Genet Evol 10:36-49 (2010)
 DOI:10.1016/j.meegid.2009.10.007
 PMID:10943406
 著者        Locht C
 タイトル      Molecular aspects of Bordetella pertussis pathogenesis.
 雑誌        Int Microbiol 2:137-44 (1999)
 PMID:20109046
 著者        Heininger U
 タイトル      Update on pertussis in children.
 雑誌        Expert Rev Anti Infect Ther 8:163-73 (2010)
 DOI:10.1586/eri.09.124
 PMID:16522501
 著者        Munoz FM
 タイトル      Pertussis in infants, children, and adolescents: diagnosis, treatment, and prevention.
 雑誌        Semin Pediatr Infect Dis 17:14-9 (2006)
 DOI:10.1053/j.spid.2005.11.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00319"">H00319</a>",百日咳,"Pertussis, or whooping cough, caused by the gram-negative bacillus Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged worldwide, causing approximately 300 000 deaths each year. Waning immunity after childhood immunization has resulted in a growing pool of susceptible adolescents and adults who are capable of transmitting pertussis to vulnerable unvaccinated or incompletely vaccinated infants. The hallmark symptoms of pertussis are paroxysmal coughing with whooping and post-tussive vomiting. Persistent coughing may last for weeks to months with a gradual decrease in frequency and severity. However, it should be noted that B. pertussis infections, particularly in hosts with partial immunity to the bacterium, may also follow a much milder or subclinical course. Complications that are frequently associated with classical pertussis include pneumonia, otitis media, seizures, encephalopathy, and (brain) hemorrhages.",,,"Bordetella pertussis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpe"">bpe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpc"">bpc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpet"">bpet</a>]
 Bordetella parapertussis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpa"">bpa</a>]
 モジュール     M00574  Pertussis pathogenicity signature, pertussis toxin
 M00575  Pertussis pathogenicity signature, T1SS",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 デキストロメトルファン臭化水素酸塩水和物・クレゾールスルホン酸カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04340"">D04340</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 アドレナリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00095"">D00095</a>]
 半夏厚朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07032"">D07032</a>]
 セフジトレンピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01628"">D01628</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンエチルコハク酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01361"">D01361</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 カナマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03262"">D03262</a>]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05356"">D05356</a>]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10214"">D10214</a>]",,"ICD-11: 1C12
 ICD-10: A37
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014917"">D014917</a>
 MedlinePlus: 001561","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21204863"">21204863</a>
 著者        de Gouw D, Diavatopoulos DA, Bootsma HJ, Hermans PW, Mooi FR
 タイトル      Pertussis: a matter of immune modulation.
 雑誌        FEMS Microbiol Rev 35:441-74 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1574-6976.2010.00257.x"">10.1111/j.1574-6976.2010.00257.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19879977"">19879977</a>
 著者        Mooi FR
 タイトル      Bordetella pertussis and vaccination: the persistence of a genetically monomorphic pathogen.
 雑誌        Infect Genet Evol 10:36-49 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.meegid.2009.10.007"">10.1016/j.meegid.2009.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10943406"">10943406</a>
 著者        Locht C
 タイトル      Molecular aspects of Bordetella pertussis pathogenesis.
 雑誌        Int Microbiol 2:137-44 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20109046"">20109046</a>
 著者        Heininger U
 タイトル      Update on pertussis in children.
 雑誌        Expert Rev Anti Infect Ther 8:163-73 (2010)
 DOI:<a href=""https://doi.org/10.1586/eri.09.124"">10.1586/eri.09.124</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16522501"">16522501</a>
 著者        Munoz FM
 タイトル      Pertussis in infants, children, and adolescents: diagnosis, treatment, and prevention.
 雑誌        Semin Pediatr Infect Dis 17:14-9 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.spid.2005.11.005"">10.1053/j.spid.2005.11.005</a>"
H00320,"ピロリ菌感染症;
 ヘリコバクターピロリ感染症",,,"Helicobacter pylori (HP) is a gram-negative pathogenic bacterium that specifically colonizes in the gastric epithelium and causes chronic gastritis, peptic ulcer disease, and/or gastric malignancies. Persistent infection can cause inflammation and gastritis that may lead to carcinogenesis. Transmission is still not entirely clarified, but human-to-human spread through oral-oral or fecal-oral route is thought to be the most plausible. The prevalence of HP infection varies between different geographical regions; generally, the prevalence is about 30% in developed and up to 80% in developing countries. Although HP may sometimes be eradicated by antibiotics given for other infections, infection usually persists life-long unless specific combination antibiotic therapy is taken.",感染症,,,"Helicobacter pylori [GN:hpy hpj hpa hps hpg hpp hpb hpl hpi hpq hpw hef hpf heq hex hpv hey hpya hpyk hpyb hpyc hpyd hpye hpyf hpyg hpyh hpyj heb hez]
 モジュール     M00564  Helicobacter pylori pathogenicity signature, cagA pathogenicity island",,,"オメプラゾール [DR:D00455]
 ランソプラゾール [DR:D00355]
 ラベプラゾールナトリウム [DR:D00724]
 エソメプラゾールマグネシウム水和物 [DR:D01984]
 ボノプラザンフマル酸塩 [DR:D10466]
 メトロニダゾール [DR:D00409]
 アモキシシリン水和物 [DR:D00229]
 クラリスロマイシン [DR:D00276]
 ラベプラゾール・アモキシシリン・クラリスロマイシン [DR:D10519]
 ラベプラゾール・アモキシシリン・メトロニダゾール [DR:D10520]
 ボノプラザン・アモキシシリン・クラリスロマイシン [DR:D10775]
 ボノプラザン・アモキシシリン・メトロニダゾール [DR:D10774]",,"ICD-10: A49.8
 MeSH: D016481","著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:21546717
 著者        Albaker WI
 タイトル      Helicobacter pylori infection and its relationship to metabolic syndrome: is it a myth or fact?
 雑誌        Saudi J Gastroenterol 17:165-9 (2011)
 DOI:10.4103/1319-3767.80377
 PMID:21896079
 著者        Goh KL, Chan WK, Shiota S, Yamaoka Y
 タイトル      Epidemiology of Helicobacter pylori infection and public health implications.
 雑誌        Helicobacter 16 Suppl 1:1-9 (2011)
 DOI:10.1111/j.1523-5378.2011.00874.x
 PMID:17309745
 著者        Kabir S
 タイトル      The current status of Helicobacter pylori vaccines: a review.
 雑誌        Helicobacter 12:89-102 (2007)
 DOI:10.1111/j.1523-5378.2007.00478.x
 PMID:14501997
 著者        Moss SF, Sood S
 タイトル      Helicobacter pylori.
 雑誌        Curr Opin Infect Dis 16:445-51 (2003)
 DOI:10.1097/01.qco.0000092816.64370.e2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00320"">H00320</a>","ピロリ菌感染症;
 ヘリコバクターピロリ感染症","Helicobacter pylori (HP) is a gram-negative pathogenic bacterium that specifically colonizes in the gastric epithelium and causes chronic gastritis, peptic ulcer disease, and/or gastric malignancies. Persistent infection can cause inflammation and gastritis that may lead to carcinogenesis. Transmission is still not entirely clarified, but human-to-human spread through oral-oral or fecal-oral route is thought to be the most plausible. The prevalence of HP infection varies between different geographical regions; generally, the prevalence is about 30% in developed and up to 80% in developing countries. Although HP may sometimes be eradicated by antibiotics given for other infections, infection usually persists life-long unless specific combination antibiotic therapy is taken.",,,"Helicobacter pylori [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpy"">hpy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpj"">hpj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpa"">hpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hps"">hps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpg"">hpg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpp"">hpp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpb"">hpb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpl"">hpl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpi"">hpi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpq"">hpq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpw"">hpw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hef"">hef</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpf"">hpf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:heq"">heq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hex"">hex</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpv"">hpv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hey"">hey</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpya"">hpya</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyk"">hpyk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyb"">hpyb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyc"">hpyc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyd"">hpyd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpye"">hpye</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyf"">hpyf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyg"">hpyg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyh"">hpyh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyj"">hpyj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:heb"">heb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hez"">hez</a>]
 モジュール     M00564  Helicobacter pylori pathogenicity signature, cagA pathogenicity island",,,"オメプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00455"">D00455</a>]
 ランソプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00355"">D00355</a>]
 ラベプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00724"">D00724</a>]
 エソメプラゾールマグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01984"">D01984</a>]
 ボノプラザンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10466"">D10466</a>]
 メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]
 アモキシシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00229"">D00229</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 ラベプラゾール・アモキシシリン・クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10519"">D10519</a>]
 ラベプラゾール・アモキシシリン・メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10520"">D10520</a>]
 ボノプラザン・アモキシシリン・クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10775"">D10775</a>]
 ボノプラザン・アモキシシリン・メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10774"">D10774</a>]",,"ICD-10: A49.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016481"">D016481</a>","著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21546717"">21546717</a>
 著者        Albaker WI
 タイトル      Helicobacter pylori infection and its relationship to metabolic syndrome: is it a myth or fact?
 雑誌        Saudi J Gastroenterol 17:165-9 (2011)
 DOI:<a href=""https://doi.org/10.4103/1319-3767.80377"">10.4103/1319-3767.80377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21896079"">21896079</a>
 著者        Goh KL, Chan WK, Shiota S, Yamaoka Y
 タイトル      Epidemiology of Helicobacter pylori infection and public health implications.
 雑誌        Helicobacter 16 Suppl 1:1-9 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1523-5378.2011.00874.x"">10.1111/j.1523-5378.2011.00874.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17309745"">17309745</a>
 著者        Kabir S
 タイトル      The current status of Helicobacter pylori vaccines: a review.
 雑誌        Helicobacter 12:89-102 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1523-5378.2007.00478.x"">10.1111/j.1523-5378.2007.00478.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14501997"">14501997</a>
 著者        Moss SF, Sood S
 タイトル      Helicobacter pylori.
 雑誌        Curr Opin Infect Dis 16:445-51 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.qco.0000092816.64370.e2"">10.1097/01.qco.0000092816.64370.e2</a>"
H00321,カンピロバクター感染症,,,"Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals, and companion animals, and it is responsible for zoonoses. The transmission occurs via the fecal-oral route through ingestion of contaminated food and water. Serious sequelae of Campylobacter infection are reported, including Guillian-Barre syndrome.",感染症,,,Campylobacter jejuni [GN:cje cjj cju cjn cjm cjy cjr cjd],,,,Reservoirs: wild birds,"ICD-11: 1C40 1A06
 ICD-10: A04.5
 MeSH: D002169","PMID:10081669
 著者        Altekruse SF, Stern NJ, Fields PI, Swerdlow DL
 タイトル      Campylobacter jejuni--an emerging foodborne pathogen.
 雑誌        Emerg Infect Dis 5:28-35 (1999)
 DOI:10.3201/eid0501.990104
 PMID:7267960
 著者        Schmidt U, Chmel H, Kaminski Z, Sen P
 タイトル      The clinical spectrum of Campylobacter fetus infections: report of five cases and review of the literature.
 雑誌        Q J Med 49:431-42 (1980)
 PMID:9310640
 著者        Jousimies-Somer H
 タイトル      Recently described clinically important anaerobic bacteria: taxonomic aspects and update.
 雑誌        Clin Infect Dis 25 Suppl 2:S78-87 (1997)
 DOI:10.1086/516227","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00321"">H00321</a>",カンピロバクター感染症,"Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals, and companion animals, and it is responsible for zoonoses. The transmission occurs via the fecal-oral route through ingestion of contaminated food and water. Serious sequelae of Campylobacter infection are reported, including Guillian-Barre syndrome.",,,"Campylobacter jejuni [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cje"">cje</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjj"">cjj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cju"">cju</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjn"">cjn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjm"">cjm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjy"">cjy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjr"">cjr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cjd"">cjd</a>]",,,,Reservoirs: wild birds,"ICD-11: 1C40 1A06
 ICD-10: A04.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002169"">D002169</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10081669"">10081669</a>
 著者        Altekruse SF, Stern NJ, Fields PI, Swerdlow DL
 タイトル      Campylobacter jejuni--an emerging foodborne pathogen.
 雑誌        Emerg Infect Dis 5:28-35 (1999)
 DOI:<a href=""https://doi.org/10.3201/eid0501.990104"">10.3201/eid0501.990104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7267960"">7267960</a>
 著者        Schmidt U, Chmel H, Kaminski Z, Sen P
 タイトル      The clinical spectrum of Campylobacter fetus infections: report of five cases and review of the literature.
 雑誌        Q J Med 49:431-42 (1980)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9310640"">9310640</a>
 著者        Jousimies-Somer H
 タイトル      Recently described clinically important anaerobic bacteria: taxonomic aspects and update.
 雑誌        Clin Infect Dis 25 Suppl 2:S78-87 (1997)
 DOI:<a href=""https://doi.org/10.1086/516227"">10.1086/516227</a>"
H00322,発疹チフス,,,Epidemic typhus is caused by gram-negative rickettsia species in the typhus biogroup that are transmitted by infective louse and flea. The disease is widely distributed in tropical and subtropical areas. Most patients present with an acute febrile disease with constitutional symptom and maculopapular exanthema.,感染症,,,"Rickettsia prowazekii [GN:rpr rpq rpl rpn] (epidemic louse-borne typhus)
 Rickettsia typhi [GN:rty] (murine flea-borne typhus)",,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]",Vectors: Prediculus humanus (human body louse); Xenopsylla cheopis (rat flea) and Polyplax spinulos (rat louse),"ICD-11: 1C30
 ICD-10: A75
 MeSH: D014437 D014438
 MedlinePlus: 001363","PMID:15353963
 著者        Rolain JM, Jensenius M, Raoult D
 タイトル      Rickettsial infections--a threat to travellers?
 雑誌        Curr Opin Infect Dis 17:433-7 (2004)
 DOI:10.1097/00001432-200410000-00008
 PMID:15546086
 著者        Jensenius M, Fournier PE, Raoult D
 タイトル      Rickettsioses and the international traveler.
 雑誌        Clin Infect Dis 39:1493-9 (2004)
 DOI:10.1086/425365
 PMID:15845235
 著者        Parola P, Davoust B, Raoult D
 タイトル      Tick- and flea-borne rickettsial emerging zoonoses.
 雑誌        Vet Res 36:469-92 (2005)
 DOI:10.1051/vetres:2005004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00322"">H00322</a>",発疹チフス,Epidemic typhus is caused by gram-negative rickettsia species in the typhus biogroup that are transmitted by infective louse and flea. The disease is widely distributed in tropical and subtropical areas. Most patients present with an acute febrile disease with constitutional symptom and maculopapular exanthema.,,,"Rickettsia prowazekii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rpr"">rpr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rpq"">rpq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rpl"">rpl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rpn"">rpn</a>] (epidemic louse-borne typhus)
 Rickettsia typhi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rty"">rty</a>] (murine flea-borne typhus)",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]",Vectors: Prediculus humanus (human body louse); Xenopsylla cheopis (rat flea) and Polyplax spinulos (rat louse),"ICD-11: 1C30
 ICD-10: A75
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014437"">D014437</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014438"">D014438</a>
 MedlinePlus: 001363","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15353963"">15353963</a>
 著者        Rolain JM, Jensenius M, Raoult D
 タイトル      Rickettsial infections--a threat to travellers?
 雑誌        Curr Opin Infect Dis 17:433-7 (2004)
 DOI:<a href=""https://doi.org/10.1097/00001432-200410000-00008"">10.1097/00001432-200410000-00008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15546086"">15546086</a>
 著者        Jensenius M, Fournier PE, Raoult D
 タイトル      Rickettsioses and the international traveler.
 雑誌        Clin Infect Dis 39:1493-9 (2004)
 DOI:<a href=""https://doi.org/10.1086/425365"">10.1086/425365</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15845235"">15845235</a>
 著者        Parola P, Davoust B, Raoult D
 タイトル      Tick- and flea-borne rickettsial emerging zoonoses.
 雑誌        Vet Res 36:469-92 (2005)
 DOI:<a href=""https://doi.org/10.1051/vetres:"">10.1051/vetres:</a><a href=""https://doi.org/2005004"">2005004</a>"
H00323,紅斑熱,,,"Tick-borne rickettsioses are caused by gram-negative obligate intracellular bacteria belonging to the spotted fever group (SFG) of the genus Rickettsia within the family Rickettsiaceae in the order Rickettsiales. The diseases present with high fever, an inoculation eschar, and a maculopapular rash.",感染症,,,"Rickettsia rickettsii [GN:rri] (Rocky Mountain spotted fever)
 Rickettsia conorii [GN:rco] (African tick typhus / Boutonneuse fever)
 Rickettsia felis [GN:rfe] (flea-borne spotted fever)
 Rickettsia sibirica (North Asian tick fever / Siberian tick typhus)
 Rickettsia massiliae [GN:rms]
 Rickettsia africae [GN:raf]
 Rickettsia japonica [GN:rja] (Japanese spotted fever)
 Rickettsia heilongjiangensis [GN:rhe] (Far-Eastern spotted fever)",,,,Vectors: Rhipicephalus sanguineus (brown dog tick) for Rickettsia conorii,"ICD-11: 1C31
 ICD-10: A77
 MeSH: D012373 D001907
 MedlinePlus: 000654","PMID:16223955
 著者        Parola P, Paddock CD, Raoult D
 タイトル      Tick-borne rickettsioses around the world: emerging diseases challenging old concepts.
 雑誌        Clin Microbiol Rev 18:719-56 (2005)
 DOI:10.1128/CMR.18.4.719-756.2005
 PMID:19358804
 著者        Socolovschi C, Mediannikov O, Raoult D, Parola P
 タイトル      The relationship between spotted fever group Rickettsiae and ixodid ticks.
 雑誌        Vet Res 40:34 (2009)
 DOI:10.1051/vetres/2009017
 PMID:15225980
 著者        Parola P
 タイトル      Tick-borne rickettsial diseases: emerging risks in Europe.
 雑誌        Comp Immunol Microbiol Infect Dis 27:297-304 (2004)
 DOI:10.1016/j.cimid.2004.03.006
 PMID:18755389
 著者        Cazorla C, Socolovschi C, Jensenius M, Parola P
 タイトル      Tick-borne diseases: tick-borne spotted fever rickettsioses in Africa.
 雑誌        Infect Dis Clin North Am 22:531-44, ix-x (2008)
 DOI:10.1016/j.idc.2008.03.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00323"">H00323</a>",紅斑熱,"Tick-borne rickettsioses are caused by gram-negative obligate intracellular bacteria belonging to the spotted fever group (SFG) of the genus Rickettsia within the family Rickettsiaceae in the order Rickettsiales. The diseases present with high fever, an inoculation eschar, and a maculopapular rash.",,,"Rickettsia rickettsii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rri"">rri</a>] (Rocky Mountain spotted fever)
 Rickettsia conorii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rco"">rco</a>] (African tick typhus / Boutonneuse fever)
 Rickettsia felis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rfe"">rfe</a>] (flea-borne spotted fever)
 Rickettsia sibirica (North Asian tick fever / Siberian tick typhus)
 Rickettsia massiliae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rms"">rms</a>]
 Rickettsia africae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:raf"">raf</a>]
 Rickettsia japonica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rja"">rja</a>] (Japanese spotted fever)
 Rickettsia heilongjiangensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rhe"">rhe</a>] (Far-Eastern spotted fever)",,,,Vectors: Rhipicephalus sanguineus (brown dog tick) for Rickettsia conorii,"ICD-11: 1C31
 ICD-10: A77
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012373"">D012373</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001907"">D001907</a>
 MedlinePlus: 000654","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16223955"">16223955</a>
 著者        Parola P, Paddock CD, Raoult D
 タイトル      Tick-borne rickettsioses around the world: emerging diseases challenging old concepts.
 雑誌        Clin Microbiol Rev 18:719-56 (2005)
 DOI:<a href=""https://doi.org/10.1128/CMR.18.4.719-756.2005"">10.1128/CMR.18.4.719-756.2005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19358804"">19358804</a>
 著者        Socolovschi C, Mediannikov O, Raoult D, Parola P
 タイトル      The relationship between spotted fever group Rickettsiae and ixodid ticks.
 雑誌        Vet Res 40:34 (2009)
 DOI:<a href=""https://doi.org/10.1051/vetres/2009017"">10.1051/vetres/2009017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15225980"">15225980</a>
 著者        Parola P
 タイトル      Tick-borne rickettsial diseases: emerging risks in Europe.
 雑誌        Comp Immunol Microbiol Infect Dis 27:297-304 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.cimid.2004.03.006"">10.1016/j.cimid.2004.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18755389"">18755389</a>
 著者        Cazorla C, Socolovschi C, Jensenius M, Parola P
 タイトル      Tick-borne diseases: tick-borne spotted fever rickettsioses in Africa.
 雑誌        Infect Dis Clin North Am 22:531-44, ix-x (2008)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2008.03.009"">10.1016/j.idc.2008.03.009</a>"
H00324,ツツガムシ病,,,"Scrub typhus, also known as tsutsugamushi disease, is a zoonosis caused by Orientia tsutsugamushi, an obligate intracellular bacterium that is transmitted by the Leptotrombidium species mite. The disease is confined to East Asia and characterized by fever, rash, eschar, pneumonitis, meningitis, and disseminated intravascular coagulation.",感染症,,,Orientia tsutsugamushi [GN:ots ott] (mite-borne typhus),,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 ミノサイクリン塩酸塩 [DR:D00850]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]","Vector: Leptotrombidium deliense, L. fletcheri and L. arenicola","ICD-11: 1C30.3
 ICD-10: A75.3
 MeSH: D012612","PMID:11226850
 著者        Seong SY, Choi MS, Kim IS
 タイトル      Orientia tsutsugamushi infection: overview and immune responses.
 雑誌        Microbes Infect 3:11-21 (2001)
 DOI:10.1016/S1286-4579(00)01352-6
 PMID:21458586
 著者        Ge Y, Rikihisa Y
 タイトル      Subversion of host cell signaling by Orientia tsutsugamushi.
 雑誌        Microbes Infect 13:638-48 (2011)
 DOI:10.1016/j.micinf.2011.03.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00324"">H00324</a>",ツツガムシ病,"Scrub typhus, also known as tsutsugamushi disease, is a zoonosis caused by Orientia tsutsugamushi, an obligate intracellular bacterium that is transmitted by the Leptotrombidium species mite. The disease is confined to East Asia and characterized by fever, rash, eschar, pneumonitis, meningitis, and disseminated intravascular coagulation.",,,"Orientia tsutsugamushi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ots"">ots</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ott"">ott</a>] (mite-borne typhus)",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]","Vector: Leptotrombidium deliense, L. fletcheri and L. arenicola","ICD-11: 1C30.3
 ICD-10: A75.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012612"">D012612</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11226850"">11226850</a>
 著者        Seong SY, Choi MS, Kim IS
 タイトル      Orientia tsutsugamushi infection: overview and immune responses.
 雑誌        Microbes Infect 3:11-21 (2001)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(00)01352-6"">10.1016/S1286-4579(00)01352-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21458586"">21458586</a>
 著者        Ge Y, Rikihisa Y
 タイトル      Subversion of host cell signaling by Orientia tsutsugamushi.
 雑誌        Microbes Infect 13:638-48 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2011.03.003"">10.1016/j.micinf.2011.03.003</a>"
H00325,ブルセラ症,,,"Brucellosis is a zoonotic disease of worldwide distribution that mainly affects persons working with domestic animals. Although many countries have eradicated Brucella abortus from cattle, Brucella melitensis remains a major cause of infection in cattle and human in Latin America, the Middle East, Spain, parts of Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations.",感染症,,,"Brucella melitensis [GN:bme bmi bmz bmf]
 Brucella abortus [GN:bmb]
 Brucella suis [GN:bms]
 Brucella canis",,,"レボフロキサシン水和物 [DR:D00588]
 テトラサイクリン塩酸塩 [DR:D02122]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]",,"ICD-11: 1B95
 ICD-10: A23
 MeSH: D002006
 MedlinePlus: 000597","PMID:9204307
 著者        Corbel MJ
 タイトル      Brucellosis: an overview.
 雑誌        Emerg Infect Dis 3:213-21 (1997)
 DOI:10.3201/eid0302.970219
 PMID:14769288
 著者        Memish ZA, Balkhy HH
 タイトル      Brucellosis and international travel.
 雑誌        J Travel Med 11:49-55 (2004)
 DOI:10.2310/7060.2004.13551
 PMID:17901634
 著者        Mantur BG, Amarnath SK, Shinde RS
 タイトル      Review of clinical and laboratory features of human brucellosis.
 雑誌        Indian J Med Microbiol 25:188-202 (2007)
 DOI:10.4103/0255-0857.34758","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00325"">H00325</a>",ブルセラ症,"Brucellosis is a zoonotic disease of worldwide distribution that mainly affects persons working with domestic animals. Although many countries have eradicated Brucella abortus from cattle, Brucella melitensis remains a major cause of infection in cattle and human in Latin America, the Middle East, Spain, parts of Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations.",,,"Brucella melitensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bme"">bme</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmi"">bmi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmz"">bmz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmf"">bmf</a>]
 Brucella abortus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmb"">bmb</a>]
 Brucella suis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bms"">bms</a>]
 Brucella canis",,,"レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]",,"ICD-11: 1B95
 ICD-10: A23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002006"">D002006</a>
 MedlinePlus: 000597","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9204307"">9204307</a>
 著者        Corbel MJ
 タイトル      Brucellosis: an overview.
 雑誌        Emerg Infect Dis 3:213-21 (1997)
 DOI:<a href=""https://doi.org/10.3201/eid0302.970219"">10.3201/eid0302.970219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14769288"">14769288</a>
 著者        Memish ZA, Balkhy HH
 タイトル      Brucellosis and international travel.
 雑誌        J Travel Med 11:49-55 (2004)
 DOI:<a href=""https://doi.org/10.2310/7060.2004.13551"">10.2310/7060.2004.13551</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17901634"">17901634</a>
 著者        Mantur BG, Amarnath SK, Shinde RS
 タイトル      Review of clinical and laboratory features of human brucellosis.
 雑誌        Indian J Med Microbiol 25:188-202 (2007)
 DOI:<a href=""https://doi.org/10.4103/0255-0857.34758"">10.4103/0255-0857.34758</a>"
H00326,バルトネラ症,,,"Bartonella species are fastidious gram-negative bacilli. They are usually transmitted by hematophagous insects, such as sandflies, fleas, and lice but can also be transmitted by animal scratches and bites. Human bartonellosis is a group of diseases with a rapidly increasing clinical spectrum. Only a handful of more than 20 members of the genus are known to be of medical significance in humans.",感染症,,,"Bartonella henselae (Cat-scratch disease) [GN:bhe]
 Bartonella bacilliformis (Oroya fever and bacillary angiomatosis) [GN:bbk]
 Bartonella quintana (Trench fever and bacillary angiomatosis) [GN:bqu]
 Bartonella grahami (Neuroretinitis) [GN:bgr]
 Bartonella elizabethae
 Candidatus Bartonella ancashi [GN:banc]",,,,"For trench fever, see also H00327.","ICD-11: 1B98 1C11
 ICD-10: A28.1 A44
 MeSH: D001474
 MedlinePlus: 001614","PMID:11176245
 著者        Conrad DA
 タイトル      Treatment of cat-scratch disease.
 雑誌        Curr Opin Pediatr 13:56-9 (2001)
 DOI:10.1097/00008480-200102000-00010
 PMID:19362689
 著者        Maguina C, Guerra H, Ventosilla P
 タイトル      Bartonellosis.
 雑誌        Clin Dermatol 27:271-80 (2009)
 DOI:10.1016/j.clindermatol.2008.10.006
 PMID:12807686
 著者        Velho PE, Cintra ML, Uthida-Tanaka AM, de Moraes AM, Mariotto A
 タイトル      What do we (not) know about the human bartonelloses?
 雑誌        Braz J Infect Dis 7:1-6 (2003)
 DOI:10.1590/S1413-86702003000100001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00326"">H00326</a>",バルトネラ症,"Bartonella species are fastidious gram-negative bacilli. They are usually transmitted by hematophagous insects, such as sandflies, fleas, and lice but can also be transmitted by animal scratches and bites. Human bartonellosis is a group of diseases with a rapidly increasing clinical spectrum. Only a handful of more than 20 members of the genus are known to be of medical significance in humans.",,,"Bartonella henselae (Cat-scratch disease) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bhe"">bhe</a>]
 Bartonella bacilliformis (Oroya fever and bacillary angiomatosis) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbk"">bbk</a>]
 Bartonella quintana (Trench fever and bacillary angiomatosis) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bqu"">bqu</a>]
 Bartonella grahami (Neuroretinitis) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bgr"">bgr</a>]
 Bartonella elizabethae
 Candidatus Bartonella ancashi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:banc"">banc</a>]",,,,"For trench fever, see also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00327."">H00327.</a>","ICD-11: 1B98 1C11
 ICD-10: A28.1 A44
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001474"">D001474</a>
 MedlinePlus: 001614","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11176245"">11176245</a>
 著者        Conrad DA
 タイトル      Treatment of cat-scratch disease.
 雑誌        Curr Opin Pediatr 13:56-9 (2001)
 DOI:<a href=""https://doi.org/10.1097/00008480-200102000-00010"">10.1097/00008480-200102000-00010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19362689"">19362689</a>
 著者        Maguina C, Guerra H, Ventosilla P
 タイトル      Bartonellosis.
 雑誌        Clin Dermatol 27:271-80 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2008.10.006"">10.1016/j.clindermatol.2008.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12807686"">12807686</a>
 著者        Velho PE, Cintra ML, Uthida-Tanaka AM, de Moraes AM, Mariotto A
 タイトル      What do we (not) know about the human bartonelloses?
 雑誌        Braz J Infect Dis 7:1-6 (2003)
 DOI:<a href=""https://doi.org/10.1590/S1413-86702003000100001"">10.1590/S1413-86702003000100001</a>"
H00327,ざんごう熱,,,"Trench fever is a disease caused by the facultative intracellular gram-negative bacterium Bartonella quintana. It affected several million people worldwide during the two world wars. The incidence of trench fever dramatically decreased after World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench fever includes repeated cycles of high fever, headache, and dizziness.",感染症,,,Bartonella quintana [GN:bqu],,,,Vector: Pediculus humanus (human body louse),"ICD-11: 1C11.1
 ICD-10: A79.0
 MeSH: D014205","PMID:22360386
 著者        Badiaga S, Brouqui P
 タイトル      Human louse-transmitted infectious diseases.
 雑誌        Clin Microbiol Infect 18:332-7 (2012)
 DOI:10.1111/j.1469-0691.2012.03778.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00327"">H00327</a>",ざんごう熱,"Trench fever is a disease caused by the facultative intracellular gram-negative bacterium Bartonella quintana. It affected several million people worldwide during the two world wars. The incidence of trench fever dramatically decreased after World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench fever includes repeated cycles of high fever, headache, and dizziness.",,,"Bartonella quintana [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bqu"">bqu</a>]",,,,Vector: Pediculus humanus (human body louse),"ICD-11: 1C11.1
 ICD-10: A79.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014205"">D014205</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22360386"">22360386</a>
 著者        Badiaga S, Brouqui P
 タイトル      Human louse-transmitted infectious diseases.
 雑誌        Clin Microbiol Infect 18:332-7 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2012.03778.x"">10.1111/j.1469-0691.2012.03778.x</a>"
H00328,炭疽,,,"Anthrax is a zoonotic infectious disease caused by Bacillus anthracis, a Gram-positive, spore-forming bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food poisoning bacterium Bacillus cereus [DS:H00329] and an insect pathogen Bacillus thuringiensis [DS:H01399]. Human infections can occur from infected animals or animal products through three main routes: skin (cutaneous), lung (inhalation) and mouth (gastrointestinal). The disease is rare, but the potential threat of anthrax spores in bioterrorism is widely recognized.",感染症,,,"Bacillus anthracis [GN:ban bar bat bai bax bans]
 Bacillus cereus [GN:bal]
 モジュール     M00859  Bacillus anthracis pathogenicity signature, anthrax toxin
 M00860  Bacillus anthracis pathogenicity signature, polyglutamic acid capsule biosynthesis",,,"ノルフロキサシン [DR:D00210]
 レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 テトラサイクリン塩酸塩 [DR:D02122]
 ミノサイクリン塩酸塩 [DR:D00850]
 ベンジルペニシリンカリウム [DR:D01053]
 アンピシリン水和物 [DR:D01251]
 アンピシリンナトリウム [DR:D02119]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 シプロフロキサシン [DR:D00186]
 シプロフロキサシン塩酸塩水和物 [DR:D02216]",,"ICD-11: 1B97
 ICD-10: A22
 MeSH: D000881
 MedlinePlus: 001325","PMID:21852539
 著者        Sweeney DA, Hicks CW, Cui X, Li Y, Eichacker PQ
 タイトル      Anthrax infection.
 雑誌        Am J Respir Crit Care Med 184:1333-41 (2011)
 DOI:10.1164/rccm.201102-0209CI
 PMID:21777993
 著者        Aquino LL, Wu JJ
 タイトル      Cutaneous manifestations of category A bioweapons.
 雑誌        J Am Acad Dermatol 65:1213.e1-1213.e15 (2011)
 DOI:10.1016/j.jaad.2010.08.040","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00328"">H00328</a>",炭疽,"Anthrax is a zoonotic infectious disease caused by Bacillus anthracis, a Gram-positive, spore-forming bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food poisoning bacterium Bacillus cereus [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00329"">H00329</a>] and an insect pathogen Bacillus thuringiensis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01399]."">H01399].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Human"">Human</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infections"">infections</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occur"">occur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infected"">infected</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:animals"">animals</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:animal"">animal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:products"">products</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:through"">through</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:three"">three</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:main"">main</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:routes:"">routes:</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:skin"">skin</a> (cutaneous), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lung"">lung</a> (inhalation) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mouth"">mouth</a> (gastrointestinal). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rare,"">rare,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:potential"">potential</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:threat"">threat</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:anthrax"">anthrax</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:spores"">spores</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:bioterrorism"">bioterrorism</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:widely"">widely</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:recognized."">recognized.</a>",,,"Bacillus anthracis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ban"">ban</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bar"">bar</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bat"">bat</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bai"">bai</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bax"">bax</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bans"">bans</a>]
 Bacillus cereus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bal"">bal</a>]
 モジュール     M00859  Bacillus anthracis pathogenicity signature, anthrax toxin
 M00860  Bacillus anthracis pathogenicity signature, polyglutamic acid capsule biosynthesis",,,"ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 アンピシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01251"">D01251</a>]
 アンピシリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02119"">D02119</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 シプロフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00186"">D00186</a>]
 シプロフロキサシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02216"">D02216</a>]",,"ICD-11: 1B97
 ICD-10: A22
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000881"">D000881</a>
 MedlinePlus: 001325","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21852539"">21852539</a>
 著者        Sweeney DA, Hicks CW, Cui X, Li Y, Eichacker PQ
 タイトル      Anthrax infection.
 雑誌        Am J Respir Crit Care Med 184:1333-41 (2011)
 DOI:<a href=""https://doi.org/10.1164/rccm.201102-0209CI"">10.1164/rccm.201102-0209CI</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21777993"">21777993</a>
 著者        Aquino LL, Wu JJ
 タイトル      Cutaneous manifestations of category A bioweapons.
 雑誌        J Am Acad Dermatol 65:1213.e1-1213.e15 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2010.08.040"">10.1016/j.jaad.2010.08.040</a>"
H00329,セレウス菌食中毒,,,"Bacillus cereus is a gram-positive aerobic-to-facultatively anaerobic bacterium that causes gastrointestinal infections. The organism produces an emetic or diarrheal syndrome induced by an emetic toxin and enterotoxin, respectively. The emetic type infections are frequently associated with the consumption of rice-based dishes, while the diarrheal type is transmitted mostly by milk products, vegetables, and meat. B. cereus is also recognized as an infrequent cause of local and systemic nongastrointestinal infections.",感染症,,,"Bacillus cereus [GN:bcr bcb bcu bcg bcx bnc]
 Bacillus cytotoxicus [GN:bcy]",,,,,"ICD-11: 1A13
 ICD-10: A05.4
 MeSH: D016863","PMID:8269390
 著者        Drobniewski FA
 タイトル      Bacillus cereus and related species.
 雑誌        Clin Microbiol Rev 6:324-38 (1993)
 DOI:10.1128/cmr.6.4.324
 PMID:20375358
 著者        Bottone EJ
 タイトル      Bacillus cereus, a volatile human pathogen.
 雑誌        Clin Microbiol Rev 23:382-98 (2010)
 DOI:10.1128/CMR.00073-09
 PMID:10742691
 著者        Kotiranta A, Lounatmaa K, Haapasalo M
 タイトル      Epidemiology and pathogenesis of Bacillus cereus infections.
 雑誌        Microbes Infect 2:189-98 (2000)
 DOI:10.1016/S1286-4579(00)00269-0
 PMID:15771198
 著者        Schoeni JL, Wong AC
 タイトル      Bacillus cereus food poisoning and its toxins.
 雑誌        J Food Prot 68:636-48 (2005)
 DOI:10.4315/0362-028X-68.3.636","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00329"">H00329</a>",セレウス菌食中毒,"Bacillus cereus is a gram-positive aerobic-to-facultatively anaerobic bacterium that causes gastrointestinal infections. The organism produces an emetic or diarrheal syndrome induced by an emetic toxin and enterotoxin, respectively. The emetic type infections are frequently associated with the consumption of rice-based dishes, while the diarrheal type is transmitted mostly by milk products, vegetables, and meat. B. cereus is also recognized as an infrequent cause of local and systemic nongastrointestinal infections.",,,"Bacillus cereus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcr"">bcr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcb"">bcb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcu"">bcu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcg"">bcg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcx"">bcx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bnc"">bnc</a>]
 Bacillus cytotoxicus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcy"">bcy</a>]",,,,,"ICD-11: 1A13
 ICD-10: A05.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016863"">D016863</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8269390"">8269390</a>
 著者        Drobniewski FA
 タイトル      Bacillus cereus and related species.
 雑誌        Clin Microbiol Rev 6:324-38 (1993)
 DOI:<a href=""https://doi.org/10.1128/cmr.6.4.324"">10.1128/cmr.6.4.324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20375358"">20375358</a>
 著者        Bottone EJ
 タイトル      Bacillus cereus, a volatile human pathogen.
 雑誌        Clin Microbiol Rev 23:382-98 (2010)
 DOI:<a href=""https://doi.org/10.1128/CMR.00073-09"">10.1128/CMR.00073-09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10742691"">10742691</a>
 著者        Kotiranta A, Lounatmaa K, Haapasalo M
 タイトル      Epidemiology and pathogenesis of Bacillus cereus infections.
 雑誌        Microbes Infect 2:189-98 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(00)00269-0"">10.1016/S1286-4579(00)00269-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15771198"">15771198</a>
 著者        Schoeni JL, Wong AC
 タイトル      Bacillus cereus food poisoning and its toxins.
 雑誌        J Food Prot 68:636-48 (2005)
 DOI:<a href=""https://doi.org/10.4315/0362-028X-68.3.636"">10.4315/0362-028X-68.3.636</a>"
H00330,メチシリン耐性黄色ブドウ球菌感染症,,,"Methicillin-resistant Staphylococcus aureus (MRSA) is one of the major multidrug-resistant bacteria which have become endemic in the hospital environment, particularly in intensive care units (ICUs). Originally limited to the hospital setting, MRSA is a growing cause of infections in the community. Community-associated MRSA (CA-MRSA) strains are genetically different from MRSA strains originating in the hospital. Its increase in the community is of concern because CA-MRSA strains appear to be highly virulent, and colonization with CA-MRSA is often undetected in hospitalized patients, which can facilitate its potential for becoming resistant to multiple antibiotics. Health care-associated MRSA (HA-MRSA) is usually associated with pneumonia, urinary tract, blood stream, and surgical wound infections. In contrast, CA-MRSA strains are overwhelmingly associated with skin and soft tissue infections.",感染症,,,"Staphylococcus aureus [GN:sau sav saw sah sar sac suk sut sux suw sug sauz saut sauj sauk sauq sauv sauw saux sauy saum saur] (hospital-acquired MRSA)
 Staphylococcus aureus [GN:sam sax saa suu suj suz saun sauu saug] (community-acquired MRSA)
 モジュール     M00625  Methicillin resistance",,,"バンコマイシン塩酸塩 [DR:D00926]
 ムピロシンカルシウム水和物 [DR:D02195]
 アルベカシン硫酸塩 [DR:D01523]
 テイコプラニン [DR:D02142]
 ダプトマイシン [DR:D01080]
 リネゾリド [DR:D00947]
 テジゾリドリン酸エステル [DR:D09686]",,"ICD-11: MG51.00
 ICD-10: U82.1
 MeSH: D013203
 MedlinePlus: 007261","PMID:20825344
 著者        Otto M
 タイトル      Basis of virulence in community-associated methicillin-resistant Staphylococcus aureus.
 雑誌        Annu Rev Microbiol 64:143-62 (2010)
 DOI:10.1146/annurev.micro.112408.134309
 PMID:18996277
 著者        Chavez TT, Decker CF
 タイトル      Health care-associated MRSA versus community-associated MRSA.
 雑誌        Dis Mon 54:763-8 (2008)
 DOI:10.1016/j.disamonth.2008.09.004
 PMID:16813982
 著者        Henderson DK
 タイトル      Managing methicillin-resistant staphylococci: a paradigm for preventing nosocomial transmission of resistant organisms.
 雑誌        Am J Infect Control 34:S46-54: discussion S64-73 (2006)
 DOI:10.1016/j.ajic.2006.05.228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00330"">H00330</a>",メチシリン耐性黄色ブドウ球菌感染症,"Methicillin-resistant Staphylococcus aureus (MRSA) is one of the major multidrug-resistant bacteria which have become endemic in the hospital environment, particularly in intensive care units (ICUs). Originally limited to the hospital setting, MRSA is a growing cause of infections in the community. Community-associated MRSA (CA-MRSA) strains are genetically different from MRSA strains originating in the hospital. Its increase in the community is of concern because CA-MRSA strains appear to be highly virulent, and colonization with CA-MRSA is often undetected in hospitalized patients, which can facilitate its potential for becoming resistant to multiple antibiotics. Health care-associated MRSA (HA-MRSA) is usually associated with pneumonia, urinary tract, blood stream, and surgical wound infections. In contrast, CA-MRSA strains are overwhelmingly associated with skin and soft tissue infections.",,,"Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sau"">sau</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sav"">sav</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saw"">saw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sah"">sah</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sar"">sar</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sac"">sac</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suk"">suk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sut"">sut</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sux"">sux</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suw"">suw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sug"">sug</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauz"">sauz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saut"">saut</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauj"">sauj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauk"">sauk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauq"">sauq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauv"">sauv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauw"">sauw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saux"">saux</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauy"">sauy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saum"">saum</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saur"">saur</a>] (hospital-acquired MRSA)
 Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sam"">sam</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sax"">sax</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saa"">saa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suu"">suu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suj"">suj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suz"">suz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saun"">saun</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sauu"">sauu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saug"">saug</a>] (community-acquired MRSA)
 モジュール     M00625  Methicillin resistance",,,"バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]
 ムピロシンカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02195"">D02195</a>]
 アルベカシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01523"">D01523</a>]
 テイコプラニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02142"">D02142</a>]
 ダプトマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01080"">D01080</a>]
 リネゾリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00947"">D00947</a>]
 テジゾリドリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09686"">D09686</a>]",,"ICD-11: MG51.00
 ICD-10: U82.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013203"">D013203</a>
 MedlinePlus: 007261","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20825344"">20825344</a>
 著者        Otto M
 タイトル      Basis of virulence in community-associated methicillin-resistant Staphylococcus aureus.
 雑誌        Annu Rev Microbiol 64:143-62 (2010)
 DOI:<a href=""https://doi.org/10.1146/annurev.micro.112408.134309"">10.1146/annurev.micro.112408.134309</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18996277"">18996277</a>
 著者        Chavez TT, Decker CF
 タイトル      Health care-associated MRSA versus community-associated MRSA.
 雑誌        Dis Mon 54:763-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2008.09.004"">10.1016/j.disamonth.2008.09.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16813982"">16813982</a>
 著者        Henderson DK
 タイトル      Managing methicillin-resistant staphylococci: a paradigm for preventing nosocomial transmission of resistant organisms.
 雑誌        Am J Infect Control 34:S46-54: discussion S64-73 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ajic.2006.05.228"">10.1016/j.ajic.2006.05.228</a>"
H00331,バンコマイシン耐性黄色ブドウ球菌感染症,,,"Vancomycin-resistant Staphylococcus aureus (VRSA) represents strains of S. aureus that have ability of resistance to the glycopeptide antibiotic vancomycin. S. aureus is the most common cause of nosocomial infections. The glycopeptides-notably vancomycin-have traditionally been the mainstay of treatment of methicillin-resistant S. aureus (MRSA) but overuse has led to the emergence of vancomycin-intermediate and vancomycin-resistant S. aureus (VISA and VRSA, respectively). Limited treatment options make resistant S. aureus infections particularly difficult and costly to treat, especially in areas of poor antibiotic penetration, such as joint spaces and the central nervous system. A gene known as vanA is a major determinant, which is transferable and can be acquired by sensitive bacteria from resistant organisms.",感染症,,,Staphylococcus aureus [GN:saw saj suv suk],,,,,"ICD-11: MG51.01
 ICD-10: U83.0
 MeSH: D013203","PMID:11871491 (drug)
 著者        Hiramatsu K
 タイトル      Vancomycin-resistant Staphylococcus aureus: a new model of antibiotic resistance.
 雑誌        Lancet Infect Dis 1:147-55 (2001)
 DOI:10.1016/S1473-3099(01)00091-3
 PMID:16575232
 著者        Todd B
 タイトル      Beyond MRSA: VISA and VRSA: what will ward off these pathogens in health care facilities?
 雑誌        Am J Nurs 106:28-30 (2006)
 DOI:10.1097/00000446-200604000-00021
 PMID:16445720
 著者        Appelbaum PC
 タイトル      The emergence of vancomycin-intermediate and vancomycin-resistant Staphylococcus aureus.
 雑誌        Clin Microbiol Infect 12 Suppl 1:16-23 (2006)
 DOI:10.1111/j.1469-0691.2006.01344.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00331"">H00331</a>",バンコマイシン耐性黄色ブドウ球菌感染症,"Vancomycin-resistant Staphylococcus aureus (VRSA) represents strains of S. aureus that have ability of resistance to the glycopeptide antibiotic vancomycin. S. aureus is the most common cause of nosocomial infections. The glycopeptides-notably vancomycin-have traditionally been the mainstay of treatment of methicillin-resistant S. aureus (MRSA) but overuse has led to the emergence of vancomycin-intermediate and vancomycin-resistant S. aureus (VISA and VRSA, respectively). Limited treatment options make resistant S. aureus infections particularly difficult and costly to treat, especially in areas of poor antibiotic penetration, such as joint spaces and the central nervous system. A gene known as vanA is a major determinant, which is transferable and can be acquired by sensitive bacteria from resistant organisms.",,,"Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saw"">saw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saj"">saj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suv"">suv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suk"">suk</a>]",,,,,"ICD-11: MG51.01
 ICD-10: U83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013203"">D013203</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11871491"">11871491</a> (drug)
 著者        Hiramatsu K
 タイトル      Vancomycin-resistant Staphylococcus aureus: a new model of antibiotic resistance.
 雑誌        Lancet Infect Dis 1:147-55 (2001)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(01)00091-3"">10.1016/S1473-3099(01)00091-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16575232"">16575232</a>
 著者        Todd B
 タイトル      Beyond MRSA: VISA and VRSA: what will ward off these pathogens in health care facilities?
 雑誌        Am J Nurs 106:28-30 (2006)
 DOI:<a href=""https://doi.org/10.1097/00000446-200604000-00021"">10.1097/00000446-200604000-00021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16445720"">16445720</a>
 著者        Appelbaum PC
 タイトル      The emergence of vancomycin-intermediate and vancomycin-resistant Staphylococcus aureus.
 雑誌        Clin Microbiol Infect 12 Suppl 1:16-23 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2006.01344.x"">10.1111/j.1469-0691.2006.01344.x</a>"
H00332,リステリア症,,,"Listeriosis is a severe foodborne infection with a high case fatality rate caused by Listeria monocytogenes. High-risk groups for listeriosis include elderly and immunocompromised patients, pregnant women, newborns, and infants.",感染症,,,"Listeria monocytogenes [GN:lmo lmn lmy lmoc lmoe lmob lmod lmoq lmr lmom lmf lmc lmog lmp lmol lmoj lmoz lmx lmz lmon lmot lmoa]
 pore-forming toxin [KO:K11031]",,,,,"ICD-11: 1C1A
 ICD-10: A32
 MeSH: D008088
 MedlinePlus: 001380","PMID:22037557
 著者        Munoz P, Rojas L, Bunsow E, Saez E, Sanchez-Cambronero L, Alcala L, Rodriguez-Creixems M, Bouza E
 タイトル      Listeriosis: An emerging public health problem especially among the elderly.
 雑誌        J Infect 64:19-33 (2012)
 DOI:10.1016/j.jinf.2011.10.006
 PMID:19332898
 著者        Rebagliati V, Philippi R, Rossi M, Troncoso A
 タイトル      Prevention of foodborne listeriosis.
 雑誌        Indian J Pathol Microbiol 52:145-9 (2009)
 DOI:10.4103/0377-4929.48903
 PMID:17094698
 著者        Jemmi T, Stephan R
 タイトル      Listeria monocytogenes: food-borne pathogen and hygiene indicator.
 雑誌        Rev Sci Tech 25:571-80 (2006)
 PMID:16161698
 著者        ILSI Research Foundation; Risk Science Institute.
 タイトル      Achieving continuous improvement in reductions in foodborne listeriosis--a risk-based approach.
 雑誌        J Food Prot 68:1932-94 (2005)
 DOI:10.4315/0362-028X-68.9.1932
 PMID:12648845
 著者        Rocourt J, BenEmbarek P, Toyofuku H, Schlundt J
 タイトル      Quantitative risk assessment of Listeria monocytogenes in ready-to-eat foods: the FAO/WHO approach.
 雑誌        FEMS Immunol Med Microbiol 35:263-7 (2003)
 DOI:10.1016/S0928-8244(02)00468-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00332"">H00332</a>",リステリア症,"Listeriosis is a severe foodborne infection with a high case fatality rate caused by Listeria monocytogenes. High-risk groups for listeriosis include elderly and immunocompromised patients, pregnant women, newborns, and infants.",,,"Listeria monocytogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmo"">lmo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmn"">lmn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmy"">lmy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoc"">lmoc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoe"">lmoe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmob"">lmob</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmod"">lmod</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoq"">lmoq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmr"">lmr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmom"">lmom</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmf"">lmf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmc"">lmc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmog"">lmog</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmp"">lmp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmol"">lmol</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoj"">lmoj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoz"">lmoz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmx"">lmx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmz"">lmz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmon"">lmon</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmot"">lmot</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmoa"">lmoa</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a>]",,,,,"ICD-11: 1C1A
 ICD-10: A32
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008088"">D008088</a>
 MedlinePlus: 001380","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22037557"">22037557</a>
 著者        Munoz P, Rojas L, Bunsow E, Saez E, Sanchez-Cambronero L, Alcala L, Rodriguez-Creixems M, Bouza E
 タイトル      Listeriosis: An emerging public health problem especially among the elderly.
 雑誌        J Infect 64:19-33 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jinf.2011.10.006"">10.1016/j.jinf.2011.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19332898"">19332898</a>
 著者        Rebagliati V, Philippi R, Rossi M, Troncoso A
 タイトル      Prevention of foodborne listeriosis.
 雑誌        Indian J Pathol Microbiol 52:145-9 (2009)
 DOI:<a href=""https://doi.org/10.4103/0377-4929.48903"">10.4103/0377-4929.48903</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17094698"">17094698</a>
 著者        Jemmi T, Stephan R
 タイトル      Listeria monocytogenes: food-borne pathogen and hygiene indicator.
 雑誌        Rev Sci Tech 25:571-80 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16161698"">16161698</a>
 著者        ILSI Research Foundation; Risk Science Institute.
 タイトル      Achieving continuous improvement in reductions in foodborne listeriosis--a risk-based approach.
 雑誌        J Food Prot 68:1932-94 (2005)
 DOI:<a href=""https://doi.org/10.4315/0362-028X-68.9.1932"">10.4315/0362-028X-68.9.1932</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12648845"">12648845</a>
 著者        Rocourt J, BenEmbarek P, Toyofuku H, Schlundt J
 タイトル      Quantitative risk assessment of Listeria monocytogenes in ready-to-eat foods: the FAO/WHO approach.
 雑誌        FEMS Immunol Med Microbiol 35:263-7 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0928-8244(02)00468-6"">10.1016/S0928-8244(02)00468-6</a>"
H00333,"レンサ球菌感染症
 下位グループ    A群溶血性レンサ球菌咽頭炎 [DS:H01424]
 劇症型溶血性レンサ球菌感染症 [DS:H01426]
 壊死性筋膜炎 [DS:H01455]
 猩紅熱 [DS:H01515]
 丹毒 [DS:H01517]",,,"Streptococci are gram-positive bacteria. Among the beta-hemolytic streptococci, Streptococcus pyogenes (Group A streptococci, GAS) and Streptococcus agalactiae (Group B streptococci, GBS) are major human pathogens. GAS causes over 600 million cases of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia, and meningitis.",感染症,,,"Streptococcus pyogenes [GN:spy spz spym spya spm spg sps sph spi spj spk spf spa spb stg stx soz stz spyh spyo]
 Streptococcus agalactiae [GN:sag san sak sagt sagn]
 pore-forming toxin [KO:K11031 K11045 K11046]
 pore-forming toxin [KO:K11052]
 superantigen [KO:K11040]
 ADP-ribosyltransferase SpyA [KO:K11044]",,,,,"ICD-11: 1B51 1B53 CA40.07
 ICD-10: A40 A49.1 G00.2 J02.0 J03.0 J15.3 J15.4 M60.0A P36.0 P36.1
 MeSH: D013290","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:21921933
 著者        Cole JN, Barnett TC, Nizet V, Walker MJ
 タイトル      Molecular insight into invasive group A streptococcal disease.
 雑誌        Nat Rev Microbiol 9:724-36 (2011)
 DOI:10.1038/nrmicro2648
 PMID:21415743
 著者        Lynskey NN, Lawrenson RA, Sriskandan S
 タイトル      New understandings in Streptococcus pyogenes.
 雑誌        Curr Opin Infect Dis 24:196-202 (2011)
 DOI:10.1097/QCO.0b013e3283458f7e
 PMID:21672083
 著者        Melin P
 タイトル      Neonatal group B streptococcal disease: from pathogenesis to preventive strategies.
 雑誌        Clin Microbiol Infect 17:1294-303 (2011)
 DOI:10.1111/j.1469-0691.2011.03576.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>","レンサ球菌感染症
 下位グループ    A群溶血性レンサ球菌咽頭炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01424"">H01424</a>]
 劇症型溶血性レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01426"">H01426</a>]
 壊死性筋膜炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01455"">H01455</a>]
 猩紅熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01515"">H01515</a>]
 丹毒 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01517"">H01517</a>]","Streptococci are gram-positive bacteria. Among the beta-hemolytic streptococci, Streptococcus pyogenes (Group A streptococci, GAS) and Streptococcus agalactiae (Group B streptococci, GBS) are major human pathogens. GAS causes over 600 million cases of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia, and meningitis.",,,"Streptococcus pyogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spy"">spy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spz"">spz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spym"">spym</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spya"">spya</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spm"">spm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spg"">spg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sps"">sps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sph"">sph</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spi"">spi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spj"">spj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spk"">spk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spf"">spf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spa"">spa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spb"">spb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stg"">stg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stx"">stx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:soz"">soz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stz"">stz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spyh"">spyh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spyo"">spyo</a>]
 Streptococcus agalactiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sag"">sag</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:san"">san</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sak"">sak</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sagt"">sagt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sagn"">sagn</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11045"">K11045</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11046"">K11046</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11052"">K11052</a>]
 superantigen [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11040"">K11040</a>]
 ADP-ribosyltransferase SpyA [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11044"">K11044</a>]",,,,,"ICD-11: 1B51 1B53 CA40.07
 ICD-10: A40 A49.1 G00.2 J02.0 J03.0 J15.3 J15.4 M60.0A P36.0 P36.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013290"">D013290</a>","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21921933"">21921933</a>
 著者        Cole JN, Barnett TC, Nizet V, Walker MJ
 タイトル      Molecular insight into invasive group A streptococcal disease.
 雑誌        Nat Rev Microbiol 9:724-36 (2011)
 DOI:<a href=""https://doi.org/10.1038/nrmicro2648"">10.1038/nrmicro2648</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21415743"">21415743</a>
 著者        Lynskey NN, Lawrenson RA, Sriskandan S
 タイトル      New understandings in Streptococcus pyogenes.
 雑誌        Curr Opin Infect Dis 24:196-202 (2011)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3283458f7e"">10.1097/QCO.0b013e3283458f7e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21672083"">21672083</a>
 著者        Melin P
 タイトル      Neonatal group B streptococcal disease: from pathogenesis to preventive strategies.
 雑誌        Clin Microbiol Infect 17:1294-303 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2011.03576.x"">10.1111/j.1469-0691.2011.03576.x</a>"
H00334,細菌性心内膜炎,,,"Infective endocarditis is a microbial infection of the endocardial surface of the heart. The characteristic lesion, a vegetation, is composed of a collection of platelets, fibrin, microorganisms, and inflammatory cells. It most commonly involves heart valves but may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. Staphylococci and streptococci account for 80% of cases of infective endocarditis, with staphylococci currently the most common pathogens. Cerebral complications are the most frequent and most severe extracardiac complications.",感染症,,,"Streptococcus viridans
 Streptococcus sanguinis [GN:ssa]
 Streptococcus suis [GN:ssu ssv]
 Streptococcus gordonii [GN:sgo]
 Staphylococcus aureus [GN:sah saj sug]
 Enterococcus
 Corynebacterium diphtheriae [GN:cdt cde cdr cda]
 Rothia aeria [GN:raj]
 Aggregatibacter aphrophilus [GN:aap]
 Aggregatibacter actinomycetemcomitans [GN:aat aao aan]
 Mammaliicoccus lentus [GN:mlen]
 Cardiobacterium hominis
 Eikenella corrodens
 Kingella kingae
 superantigen [KO:K11040 K11041 K11042 K11043]
 pore-forming toxin [KO:K11031 K11032 K11038 K11039]
 membrane-damaging toxin [KO:K01114]",,,"ベンジルペニシリンカリウム [DR:D01053]
 リンコマイシン塩酸塩水和物 [DR:D02346]
 バンコマイシン塩酸塩 [DR:D00926]
 ダプトマイシン [DR:D01080]
 アンピシリンナトリウム [DR:D02119]
 セファゾリンナトリウム [DR:D00905]
 セファゾリンナトリウム水和物 [DR:D02226]
 セフォタキシムナトリウム [DR:D00919]
 セフタジジム水和物 [DR:D00921]
 フロモキセフナトリウム [DR:D01473]
 セフォペラゾンナトリウム・スルバクタムナトリウム [DR:D08772]
 ドリペネム水和物 [DR:D01836]
 イミペネム・シラスタチンナトリウム [DR:D00344]
 パニペネム・ベタミプロン [DR:D02509]
 ストレプトマイシン硫酸塩 [DR:D01350]",,"ICD-10: I39.8
 MeSH: D004697
 MedlinePlus: 000681","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:16902214
 著者        Beynon RP, Bahl VK, Prendergast BD
 タイトル      Infective endocarditis.
 雑誌        BMJ 333:334-9 (2006)
 DOI:10.1136/bmj.333.7563.334
 PMID:23574121
 著者        Hoen B, Duval X
 タイトル      Clinical practice. Infective endocarditis.
 雑誌        N Engl J Med 368:1425-33 (2013)
 DOI:10.1056/NEJMcp1206782
 PMID:11794152
 著者        Mylonakis E, Calderwood SB
 タイトル      Infective endocarditis in adults.
 雑誌        N Engl J Med 345:1318-30 (2001)
 DOI:10.1056/NEJMra010082","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00334"">H00334</a>",細菌性心内膜炎,"Infective endocarditis is a microbial infection of the endocardial surface of the heart. The characteristic lesion, a vegetation, is composed of a collection of platelets, fibrin, microorganisms, and inflammatory cells. It most commonly involves heart valves but may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. Staphylococci and streptococci account for 80% of cases of infective endocarditis, with staphylococci currently the most common pathogens. Cerebral complications are the most frequent and most severe extracardiac complications.",,,"Streptococcus viridans
 Streptococcus sanguinis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssa"">ssa</a>]
 Streptococcus suis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssu"">ssu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssv"">ssv</a>]
 Streptococcus gordonii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sgo"">sgo</a>]
 Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sah"">sah</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saj"">saj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sug"">sug</a>]
 Enterococcus
 Corynebacterium diphtheriae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdt"">cdt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cde"">cde</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdr"">cdr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cda"">cda</a>]
 Rothia aeria [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:raj"">raj</a>]
 Aggregatibacter aphrophilus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aap"">aap</a>]
 Aggregatibacter actinomycetemcomitans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aat"">aat</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aao"">aao</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aan"">aan</a>]
 Mammaliicoccus lentus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mlen"">mlen</a>]
 Cardiobacterium hominis
 Eikenella corrodens
 Kingella kingae
 superantigen [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11040"">K11040</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11041"">K11041</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11042"">K11042</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11043"">K11043</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11032"">K11032</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11038"">K11038</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11039"">K11039</a>]
 membrane-damaging toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01114"">K01114</a>]",,,"ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 リンコマイシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02346"">D02346</a>]
 バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]
 ダプトマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01080"">D01080</a>]
 アンピシリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02119"">D02119</a>]
 セファゾリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00905"">D00905</a>]
 セファゾリンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02226"">D02226</a>]
 セフォタキシムナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00919"">D00919</a>]
 セフタジジム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00921"">D00921</a>]
 フロモキセフナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01473"">D01473</a>]
 セフォペラゾンナトリウム・スルバクタムナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08772"">D08772</a>]
 ドリペネム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01836"">D01836</a>]
 イミペネム・シラスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00344"">D00344</a>]
 パニペネム・ベタミプロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02509"">D02509</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]",,"ICD-10: I39.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004697"">D004697</a>
 MedlinePlus: 000681","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16902214"">16902214</a>
 著者        Beynon RP, Bahl VK, Prendergast BD
 タイトル      Infective endocarditis.
 雑誌        BMJ 333:334-9 (2006)
 DOI:<a href=""https://doi.org/10.1136/bmj.333.7563.334"">10.1136/bmj.333.7563.334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23574121"">23574121</a>
 著者        Hoen B, Duval X
 タイトル      Clinical practice. Infective endocarditis.
 雑誌        N Engl J Med 368:1425-33 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp1206782"">10.1056/NEJMcp1206782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11794152"">11794152</a>
 著者        Mylonakis E, Calderwood SB
 タイトル      Infective endocarditis in adults.
 雑誌        N Engl J Med 345:1318-30 (2001)
 DOI:<a href=""https://doi.org/10.1056/NEJMra010082"">10.1056/NEJMra010082</a>"
H00335,"ウェルシュ菌食中毒
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Clostridium perfringens is a spore-forming, gram-positive, anaerobic bacterium consisting of five types (A-E), according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized countries, whereas Type C is a rare but very serious cause of necrotic enteritis.",感染症,,,"Clostridium perfringens [GN:cpe cpf cpr]
 hyaluronidase/collagenase [KO:K01186 K01197 K01387 K08587]
 pore-forming toxin [KO:K03699 K06442 K11031 K11068]
 membrane-damaging toxin [KO:K16619]
 enterotoxin [KO:K11059 K11060 K11061 K11062]
 enterotoxin Cpe [KO:K11058]
 beta2 toxin [KO:K11057]",,,,,"ICD-11: 1A12
 ICD-10: A05.2
 MeSH: D003015","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:11981970
 著者        Brynestad S, Granum PE
 タイトル      Clostridium perfringens and foodborne infections.
 雑誌        Int J Food Microbiol 74:195-202 (2002)
 DOI:10.1016/S0168-1605(01)00680-8
 PMID:21315973
 著者        Lindstrom M, Heikinheimo A, Lahti P, Korkeala H
 タイトル      Novel insights into the epidemiology of Clostridium perfringens type A food poisoning.
 雑誌        Food Microbiol 28:192-8 (2011)
 DOI:10.1016/j.fm.2010.03.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00335"">H00335</a>","ウェルシュ菌食中毒
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Clostridium perfringens is a spore-forming, gram-positive, anaerobic bacterium consisting of five types (A-E), according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized countries, whereas Type C is a rare but very serious cause of necrotic enteritis.",,,"Clostridium perfringens [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpe"">cpe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpf"">cpf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpr"">cpr</a>]
 hyaluronidase/collagenase [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01186"">K01186</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01197"">K01197</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01387"">K01387</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08587"">K08587</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03699"">K03699</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06442"">K06442</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11068"">K11068</a>]
 membrane-damaging toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16619"">K16619</a>]
 enterotoxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11059"">K11059</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11060"">K11060</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11061"">K11061</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11062"">K11062</a>]
 enterotoxin Cpe [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11058"">K11058</a>]
 beta2 toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11057"">K11057</a>]",,,,,"ICD-11: 1A12
 ICD-10: A05.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003015"">D003015</a>","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11981970"">11981970</a>
 著者        Brynestad S, Granum PE
 タイトル      Clostridium perfringens and foodborne infections.
 雑誌        Int J Food Microbiol 74:195-202 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0168-1605(01)00680-8"">10.1016/S0168-1605(01)00680-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21315973"">21315973</a>
 著者        Lindstrom M, Heikinheimo A, Lahti P, Korkeala H
 タイトル      Novel insights into the epidemiology of Clostridium perfringens type A food poisoning.
 雑誌        Food Microbiol 28:192-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.fm.2010.03.020"">10.1016/j.fm.2010.03.020</a>"
H00336,"ガス壊疽
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Gas gangrene is a rare and devastating wound infection. The Clostridium perfringens, septicum, and histolyticum are the principal causes of trauma-associated gas gangrene. It is characterized by fever, pain, edema, myonecrosis and gas production. Recently, there has also been an increased incidence of spontaneous gas gangrene caused by Clostridium septicum.",感染症,,,"Clostridium perfringens [GN:cpe cpf cpr]
 hyaluronidase/collagenase [KO:K01186 K01197 K01387 K08587]
 pore-forming toxin [KO:K03699 K06442 K11031 K11058 K11068]
 membrane-damaging toxin [KO:K16619]
 enterotoxin [KO:K11059 K11060 K11061 K11062]
 beta2 toxin [KO:K11057]",,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 ベンジルペニシリンカリウム [DR:D01053]
 エリスロマイシン [DR:D00140]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 ガスえそウマ抗毒素 [DR:D05187]",,"ICD-11: 1C16
 ICD-10: A48.0
 MeSH: D005738
 MedlinePlus: 000620","PMID:14468017
 著者        MACLENNAN JD
 タイトル      The histotoxic clostridial infections of man.
 雑誌        Bacteriol Rev 26:177-276 (1962)
 PMID:10832675
 著者        Sasaki T, Nanjo H, Takahashi M, Sugiyama T, Ono I, Masuda H
 タイトル      Non-traumatic gas gangrene in the abdomen: report of six autopsy cases.
 雑誌        J Gastroenterol 35:382-90 (2000)
 DOI:10.1007/s005350050365
 PMID:22120198
 著者        Stevens DL, Aldape MJ, Bryant AE
 タイトル      Life-threatening clostridial infections.
 雑誌        Anaerobe 18:254-9 (2012)
 DOI:10.1016/j.anaerobe.2011.11.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00336"">H00336</a>","ガス壊疽
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Gas gangrene is a rare and devastating wound infection. The Clostridium perfringens, septicum, and histolyticum are the principal causes of trauma-associated gas gangrene. It is characterized by fever, pain, edema, myonecrosis and gas production. Recently, there has also been an increased incidence of spontaneous gas gangrene caused by Clostridium septicum.",,,"Clostridium perfringens [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpe"">cpe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpf"">cpf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpr"">cpr</a>]
 hyaluronidase/collagenase [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01186"">K01186</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01197"">K01197</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01387"">K01387</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08587"">K08587</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03699"">K03699</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06442"">K06442</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11058"">K11058</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11068"">K11068</a>]
 membrane-damaging toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16619"">K16619</a>]
 enterotoxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11059"">K11059</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11060"">K11060</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11061"">K11061</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11062"">K11062</a>]
 beta2 toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11057"">K11057</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 ガスえそウマ抗毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05187"">D05187</a>]",,"ICD-11: 1C16
 ICD-10: A48.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005738"">D005738</a>
 MedlinePlus: 000620","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14468017"">14468017</a>
 著者        MACLENNAN JD
 タイトル      The histotoxic clostridial infections of man.
 雑誌        Bacteriol Rev 26:177-276 (1962)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10832675"">10832675</a>
 著者        Sasaki T, Nanjo H, Takahashi M, Sugiyama T, Ono I, Masuda H
 タイトル      Non-traumatic gas gangrene in the abdomen: report of six autopsy cases.
 雑誌        J Gastroenterol 35:382-90 (2000)
 DOI:<a href=""https://doi.org/10.1007/s005350050365"">10.1007/s005350050365</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22120198"">22120198</a>
 著者        Stevens DL, Aldape MJ, Bryant AE
 タイトル      Life-threatening clostridial infections.
 雑誌        Anaerobe 18:254-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.anaerobe.2011.11.001"">10.1016/j.anaerobe.2011.11.001</a>"
H00337,"破傷風
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Tetanus is a serious, often fatal intoxication caused by infection of Clostridium tetani, a gram-positive bacterium, through cuts or wounds. Mortality rate among untreated patients is high. Tetanus affects the muscles and nerves and manifests as muscle spasms in the jaw (lockjaw). Tetanus can be prevented by getting the tetanus vaccine.",感染症,,,"Clostridium tetani [GN:ctc]
 tetanus toxin (TeTx) [KO:K08644]
 pore-forming toxin [KO:K06442 K11031 K11068]",,,"ベンジルペニシリンカリウム [DR:D01053]
 エリスロマイシン [DR:D00140]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 沈降破傷風トキソイド [DR:D05316]
 ポリエチレングリコール処理抗破傷風人免疫グロブリン [DR:D08782]
 乾燥抗破傷風人免疫グロブリン [DR:D08791]
 抗破傷風人免疫グロブリン [DR:D08801]
 沈降ジフテリア破傷風混合トキソイド [DR:D05257]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:D05356]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:D10214]",,"ICD-11: 1C13
 ICD-10: A33 A34 A35
 MeSH: D013742
 MedlinePlus: 000615","PMID:22111470
 著者        Otero-Maldonado M, Bosques-Rosado M, Soto-Malave R, Deliz-Roldan B, Bertran-Pasarell J, Vargas Otero P
 タイトル      Tetanus is still present in the 21st century: case report and review of literature.
 雑誌        Bol Asoc Med P R 103:41-7 (2011)
 PMID:9416389
 著者        Ernst ME, Klepser ME, Fouts M, Marangos MN
 タイトル      Tetanus: pathophysiology and management.
 雑誌        Ann Pharmacother 31:1507-13 (1997)
 DOI:10.1177/106002809703101211
 PMID:18588497
 著者        Brook I
 タイトル      Current concepts in the management of Clostridium tetani infection.
 雑誌        Expert Rev Anti Infect Ther 6:327-36 (2008)
 DOI:10.1586/14787210.6.3.327","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00337"">H00337</a>","破傷風
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Tetanus is a serious, often fatal intoxication caused by infection of Clostridium tetani, a gram-positive bacterium, through cuts or wounds. Mortality rate among untreated patients is high. Tetanus affects the muscles and nerves and manifests as muscle spasms in the jaw (lockjaw). Tetanus can be prevented by getting the tetanus vaccine.",,,"Clostridium tetani [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctc"">ctc</a>]
 tetanus toxin (TeTx) [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08644"">K08644</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06442"">K06442</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11031"">K11031</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11068"">K11068</a>]",,,"ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 沈降破傷風トキソイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05316"">D05316</a>]
 ポリエチレングリコール処理抗破傷風人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08782"">D08782</a>]
 乾燥抗破傷風人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08791"">D08791</a>]
 抗破傷風人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08801"">D08801</a>]
 沈降ジフテリア破傷風混合トキソイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05257"">D05257</a>]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05356"">D05356</a>]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10214"">D10214</a>]",,"ICD-11: 1C13
 ICD-10: A33 A34 A35
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013742"">D013742</a>
 MedlinePlus: 000615","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22111470"">22111470</a>
 著者        Otero-Maldonado M, Bosques-Rosado M, Soto-Malave R, Deliz-Roldan B, Bertran-Pasarell J, Vargas Otero P
 タイトル      Tetanus is still present in the 21st century: case report and review of literature.
 雑誌        Bol Asoc Med P R 103:41-7 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9416389"">9416389</a>
 著者        Ernst ME, Klepser ME, Fouts M, Marangos MN
 タイトル      Tetanus: pathophysiology and management.
 雑誌        Ann Pharmacother 31:1507-13 (1997)
 DOI:<a href=""https://doi.org/10.1177/106002809703101211"">10.1177/106002809703101211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18588497"">18588497</a>
 著者        Brook I
 タイトル      Current concepts in the management of Clostridium tetani infection.
 雑誌        Expert Rev Anti Infect Ther 6:327-36 (2008)
 DOI:<a href=""https://doi.org/10.1586/14787210.6.3.327"">10.1586/14787210.6.3.327</a>"
H00338,"偽膜性大腸炎
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,Clostridium difficile is a gram-positive anaerobic bacillus that causes a broad spectrum of clinical symptoms ranging from mild diarrhea to severe pseudomembranous colitis. C. difficile can be transmitted by the fecal-oral route from person to person and instrument to patient.,感染症,,,"Clostridioides difficile [GN:cdf pdc cdc cdl]
 toxin A/B [KO:K11063]
 pore-forming toxin [KO:K06442 K11068]",,,"メトロニダゾール [DR:D00409]
 バンコマイシン塩酸塩 [DR:D00926]
 フィダキソマイシン [DR:D09394]
 ベズロトクスマブ [DR:D10453]",,"ICD-11: 1A04
 ICD-10: A04.7
 MeSH: D004761
 MedlinePlus: 000259","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:21609252
 著者        Kachrimanidou M, Malisiovas N
 タイトル      Clostridium difficile infection: a comprehensive review.
 雑誌        Crit Rev Microbiol 37:178-87 (2011)
 DOI:10.3109/1040841X.2011.556598
 PMID:17640189
 著者        Elliott B, Chang BJ, Golledge CL, Riley TV
 タイトル      Clostridium difficile-associated diarrhoea.
 雑誌        Intern Med J 37:561-8 (2007)
 DOI:10.1111/j.1445-5994.2007.01403.x
 PMID:15997485
 著者        Bouza E, Munoz P, Alonso R
 タイトル      Clinical manifestations, treatment and control of infections caused by Clostridium difficile.
 雑誌        Clin Microbiol Infect 11 Suppl 4:57-64 (2005)
 DOI:10.1111/j.1469-0691.2005.01165.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00338"">H00338</a>","偽膜性大腸炎
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]",Clostridium difficile is a gram-positive anaerobic bacillus that causes a broad spectrum of clinical symptoms ranging from mild diarrhea to severe pseudomembranous colitis. C. difficile can be transmitted by the fecal-oral route from person to person and instrument to patient.,,,"Clostridioides difficile [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdf"">cdf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pdc"">pdc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdc"">cdc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdl"">cdl</a>]
 toxin A/B [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11063"">K11063</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06442"">K06442</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11068"">K11068</a>]",,,"メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]
 バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]
 フィダキソマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09394"">D09394</a>]
 ベズロトクスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10453"">D10453</a>]",,"ICD-11: 1A04
 ICD-10: A04.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004761"">D004761</a>
 MedlinePlus: 000259","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21609252"">21609252</a>
 著者        Kachrimanidou M, Malisiovas N
 タイトル      Clostridium difficile infection: a comprehensive review.
 雑誌        Crit Rev Microbiol 37:178-87 (2011)
 DOI:<a href=""https://doi.org/10.3109/1040841X.2011.556598"">10.3109/1040841X.2011.556598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17640189"">17640189</a>
 著者        Elliott B, Chang BJ, Golledge CL, Riley TV
 タイトル      Clostridium difficile-associated diarrhoea.
 雑誌        Intern Med J 37:561-8 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1445-5994.2007.01403.x"">10.1111/j.1445-5994.2007.01403.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15997485"">15997485</a>
 著者        Bouza E, Munoz P, Alonso R
 タイトル      Clinical manifestations, treatment and control of infections caused by Clostridium difficile.
 雑誌        Clin Microbiol Infect 11 Suppl 4:57-64 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2005.01165.x"">10.1111/j.1469-0691.2005.01165.x</a>"
H00339,"ボツリヌス中毒症
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Botulism is an acute neuroparalytic illness caused by a botulinum toxin produced by Clostridium botulinum, an anaerobic, gram-positive bacterium. Botulism occurs in four forms: foodborne, wound, infant botulism, and adult intestinal toxemia. Botulinum toxin blocks acetylcholine release in a dose-dependent fashion, resulting in symmetrical, descending, and progressive muscle weakness. Delay in treatment may allow progression of paralysis.",感染症,,,"Clostridium botulinum [GN:cbo cba cbh cby cbl cbb cbi cbt cbf cbm cbj]
 Clostridium butyricum
 Clostridium baratii
 botulinum neurotoxin (BoNT) [KO:K06011]
 hyaluronidase/collagenase [KO:K01387 K08587]
 pore-forming toxin [KO:K06442 K11068]",,,"乾燥ボツリヌスウマ抗毒素 [DR:D05368]
 乾燥E型ボツリヌス抗毒素 [DR:D11173]",,"ICD-11: 1A11
 ICD-10: A05.1
 MeSH: D001906
 MedlinePlus: 000598","PMID:21171845
 著者        Zhang JC, Sun L, Nie QH
 タイトル      Botulism, where are we now?
 雑誌        Clin Toxicol (Phila) 48:867-79 (2010)
 DOI:10.3109/15563650.2010.535003
 PMID:18388640
 著者        Dembek ZF, Smith LA, Rusnak JM
 タイトル      Botulism: cause, effects, diagnosis, clinical and laboratory identification, and treatment modalities.
 雑誌        Disaster Med Public Health Prep 1:122-34 (2007)
 DOI:10.1097/DMP.0b013e318158c5fd
 PMID:17224901
 著者        Brook I
 タイトル      Botulism: the challenge of diagnosis and treatment.
 雑誌        Rev Neurol Dis 3:182-9 (2006)
 PMID:21412916
 著者        Chalk C, Benstead TJ, Keezer M
 タイトル      Medical treatment for botulism.
 雑誌        Cochrane Database Syst Rev CD008123 (2011)
 DOI:10.1002/14651858.CD008123.pub2
 PMID:12503947
 著者        Robinson RF, Nahata MC
 タイトル      Management of botulism.
 雑誌        Ann Pharmacother 37:127-31 (2003)
 DOI:10.1345/aph.1C034","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00339"">H00339</a>","ボツリヌス中毒症
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Botulism is an acute neuroparalytic illness caused by a botulinum toxin produced by Clostridium botulinum, an anaerobic, gram-positive bacterium. Botulism occurs in four forms: foodborne, wound, infant botulism, and adult intestinal toxemia. Botulinum toxin blocks acetylcholine release in a dose-dependent fashion, resulting in symmetrical, descending, and progressive muscle weakness. Delay in treatment may allow progression of paralysis.",,,"Clostridium botulinum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbo"">cbo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cba"">cba</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbh"">cbh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cby"">cby</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbl"">cbl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbb"">cbb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbi"">cbi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbt"">cbt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbf"">cbf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbm"">cbm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cbj"">cbj</a>]
 Clostridium butyricum
 Clostridium baratii
 botulinum neurotoxin (BoNT) [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06011"">K06011</a>]
 hyaluronidase/collagenase [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01387"">K01387</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08587"">K08587</a>]
 pore-forming toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06442"">K06442</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11068"">K11068</a>]",,,"乾燥ボツリヌスウマ抗毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05368"">D05368</a>]
 乾燥E型ボツリヌス抗毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11173"">D11173</a>]",,"ICD-11: 1A11
 ICD-10: A05.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001906"">D001906</a>
 MedlinePlus: 000598","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21171845"">21171845</a>
 著者        Zhang JC, Sun L, Nie QH
 タイトル      Botulism, where are we now?
 雑誌        Clin Toxicol (Phila) 48:867-79 (2010)
 DOI:<a href=""https://doi.org/10.3109/15563650.2010.535003"">10.3109/15563650.2010.535003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18388640"">18388640</a>
 著者        Dembek ZF, Smith LA, Rusnak JM
 タイトル      Botulism: cause, effects, diagnosis, clinical and laboratory identification, and treatment modalities.
 雑誌        Disaster Med Public Health Prep 1:122-34 (2007)
 DOI:<a href=""https://doi.org/10.1097/DMP.0b013e318158c5fd"">10.1097/DMP.0b013e318158c5fd</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17224901"">17224901</a>
 著者        Brook I
 タイトル      Botulism: the challenge of diagnosis and treatment.
 雑誌        Rev Neurol Dis 3:182-9 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412916"">21412916</a>
 著者        Chalk C, Benstead TJ, Keezer M
 タイトル      Medical treatment for botulism.
 雑誌        Cochrane Database Syst Rev CD008123 (2011)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD008123.pub2"">10.1002/14651858.CD008123.pub2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12503947"">12503947</a>
 著者        Robinson RF, Nahata MC
 タイトル      Management of botulism.
 雑誌        Ann Pharmacother 37:127-31 (2003)
 DOI:<a href=""https://doi.org/10.1345/aph.1C034"">10.1345/aph.1C034</a>"
H00340,バンコマイシン耐性腸球菌感染症,,,"Enterococci are gram-positive, facultative bacteria with low intrinsic virulence that constitute the normal colonizing flora of the human gastrointestinal tract. Vancomycin-resistant enterococci (VRE) are among the most common antimicrobial-resistant pathogens globally, causing bacteremia with or without endocarditis, and intra-abdominal, wound, and genitourinary infection in immunocompromised patients. The mortality rate is high.",感染症,,,"Enterococcus faecalis [GN:efa]
 Enterococcus faecium [GN:efc efau]
 Enterococcus gallinarum
 モジュール     M00651  Vancomycin resistance, D-Ala-D-Lac type",,,リネゾリド [DR:D00947],,"ICD-11: MG51.20
 ICD-10: A41.4A A49.8A J15.8A","PMID:11827558
 著者        Linden PK
 タイトル      Treatment options for vancomycin-resistant enterococcal infections.
 雑誌        Drugs 62:425-41 (2002)
 DOI:10.2165/00003495-200262030-00002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00340"">H00340</a>",バンコマイシン耐性腸球菌感染症,"Enterococci are gram-positive, facultative bacteria with low intrinsic virulence that constitute the normal colonizing flora of the human gastrointestinal tract. Vancomycin-resistant enterococci (VRE) are among the most common antimicrobial-resistant pathogens globally, causing bacteremia with or without endocarditis, and intra-abdominal, wound, and genitourinary infection in immunocompromised patients. The mortality rate is high.",,,"Enterococcus faecalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:efa"">efa</a>]
 Enterococcus faecium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:efc"">efc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:efau"">efau</a>]
 Enterococcus gallinarum
 モジュール     M00651  Vancomycin resistance, D-Ala-D-Lac type",,,"リネゾリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00947"">D00947</a>]",,"ICD-11: MG51.20
 ICD-10: A41.4A A49.8A J15.8A","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11827558"">11827558</a>
 著者        Linden PK
 タイトル      Treatment options for vancomycin-resistant enterococcal infections.
 雑誌        Drugs 62:425-41 (2002)
 DOI:<a href=""https://doi.org/10.2165/00003495-200262030-00002"">10.2165/00003495-200262030-00002</a>"
H00341,マイコプラズマ肺炎,,,"Mycoplasmas represent the smallest self-replicating organisms that are most closely related to the gram-positive bacterial group that includes streptococci, bacilli, and lactobacilli. Mycoplasma pneumoniae is a member of the family Mycoplasmataceae that causes both the upper and the lower respiratory tract infection both endemically and epidemically worldwide. Most infections are mild, but a small proportion of infected individuals may develop serious pneumonia due to an enhanced host cellular immune response.",感染症,,,"Mycoplasma pneumoniae [GN:mpn mpm mpj mpb]
 Mycoplasma penetrans [GN:mpe]",,,"レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 ロキシスロマイシン [DR:D01710]",,"ICD-11: CA40.04 CA42
 ICD-10: J15.7 J20.0
 MeSH: D011019
 MedlinePlus: 000082","PMID:11548186
 著者        Ferwerda A, Moll HA, de Groot R
 タイトル      Respiratory tract infections by Mycoplasma pneumoniae in children: a review of diagnostic and therapeutic measures.
 雑誌        Eur J Pediatr 160:483-91 (2001)
 DOI:10.1007/s004310100775
 PMID:18754792
 著者        Atkinson TP, Balish MF, Waites KB
 タイトル      Epidemiology, clinical manifestations, pathogenesis and laboratory detection of Mycoplasma pneumoniae infections.
 雑誌        FEMS Microbiol Rev 32:956-73 (2008)
 DOI:10.1111/j.1574-6976.2008.00129.x
 PMID:15489344
 著者        Waites KB, Talkington DF
 タイトル      Mycoplasma pneumoniae and its role as a human pathogen.
 雑誌        Clin Microbiol Rev 17:697-728, table of contents (2004)
 DOI:10.1128/CMR.17.4.697-728.2004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00341"">H00341</a>",マイコプラズマ肺炎,"Mycoplasmas represent the smallest self-replicating organisms that are most closely related to the gram-positive bacterial group that includes streptococci, bacilli, and lactobacilli. Mycoplasma pneumoniae is a member of the family Mycoplasmataceae that causes both the upper and the lower respiratory tract infection both endemically and epidemically worldwide. Most infections are mild, but a small proportion of infected individuals may develop serious pneumonia due to an enhanced host cellular immune response.",,,"Mycoplasma pneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpn"">mpn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpm"">mpm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpj"">mpj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpb"">mpb</a>]
 Mycoplasma penetrans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpe"">mpe</a>]",,,"レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 ロキシスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01710"">D01710</a>]",,"ICD-11: CA40.04 CA42
 ICD-10: J15.7 J20.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011019"">D011019</a>
 MedlinePlus: 000082","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11548186"">11548186</a>
 著者        Ferwerda A, Moll HA, de Groot R
 タイトル      Respiratory tract infections by Mycoplasma pneumoniae in children: a review of diagnostic and therapeutic measures.
 雑誌        Eur J Pediatr 160:483-91 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004310100775"">10.1007/s004310100775</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18754792"">18754792</a>
 著者        Atkinson TP, Balish MF, Waites KB
 タイトル      Epidemiology, clinical manifestations, pathogenesis and laboratory detection of Mycoplasma pneumoniae infections.
 雑誌        FEMS Microbiol Rev 32:956-73 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1574-6976.2008.00129.x"">10.1111/j.1574-6976.2008.00129.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489344"">15489344</a>
 著者        Waites KB, Talkington DF
 タイトル      Mycoplasma pneumoniae and its role as a human pathogen.
 雑誌        Clin Microbiol Rev 17:697-728, table of contents (2004)
 DOI:<a href=""https://doi.org/10.1128/CMR.17.4.697-728.2004"">10.1128/CMR.17.4.697-728.2004</a>"
H00342,"結核
 下位グループ    多剤耐性結核 [DS:H01472]",,,"Tuberculosis is an infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis may arise either from a recent infection with M. tuberculosis, or from the reactivation of dormant bacilli, years or decades after initial infection. Extrapulmonary tuberculosis mainly results from reactivation of a tuberculous focus after hematogenous dissemination or lymphogenous spread from a primary, usually pulmonary focus.",感染症,,"IFNG (protection) [HSA:3458] [KO:K04687]
 IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132]
 IFNGR2 [HSA:3460] [KO:K05133]
 HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752]
 HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752]
 SLC11A1 (susceptibility) [HSA:6556] [KO:K12347]
 VDR (susceptibility) [HSA:7421] [KO:K08539]
 MBL2 (protection) [HSA:4153] [KO:K03991]
 CCL2 (susceptibility) [HSA:6347] [KO:K14624]
 CD209 (susceptibility) [HSA:30835] [KO:K06563]
 CISH (susceptibility) [HSA:1154] [KO:K04701]
 IRGM (protection) [HSA:345611] [KO:K14139]
 SP110 (susceptibility) [HSA:3431] [KO:K24503]
 TIRAP (protection) [HSA:114609] [KO:K05403]
 TLR2 (susceptibility) [HSA:7097] [KO:K10159]","Mycobacterium tuberculosis [GN:mtu mtc mtf mtb mtk mtg mti mte mtl mto mtd mtj mtuc mtue mtuh maf]
 Mycobacterium canettii [GN:mce mcq mcv mcx mcz]",,,"デキサメタゾン [DR:D00292]
 レボフロキサシン水和物 [DR:D00588]
 フドステイン [DR:D01845]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 柴胡桂枝湯エキス [DR:D06964]
 ストレプトマイシン硫酸塩 [DR:D01350]
 サイクロセリン [DR:D00877]
 リファンピシン [DR:D00211]
 エンビオマイシン硫酸塩 [DR:D03278]
 カナマイシン硫酸塩 [DR:D03262]
 リファブチン [DR:D00424]
 パラアミノサリチル酸カルシウム水和物 [DR:D03368]
 アルミノパラアミノサリチル酸カルシウム水和物 [DR:D01643]
 イソニアジド [DR:D00346]
 イソニアジドメタンスルホン酸ナトリウム水和物 [DR:D02002]
 ピラジナミド [DR:D00144]
 エチオナミド [DR:D00591]
 エタンブトール塩酸塩 [DR:D00878]
 乾燥BCGワクチン [DR:D06466]",,"ICD-11: 1B10 1B11 1B12
 ICD-10: A15 A16 A17 A18 A19
 MeSH: D014376
 MedlinePlus: 000077
 OMIM: 607948","PMID:20206579
 著者        Moller M, Hoal EG
 タイトル      Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis.
 雑誌        Tuberculosis (Edinb) 90:71-83 (2010)
 DOI:10.1016/j.tube.2010.02.002
 PMID:17147011
 著者        De Backer AI, Mortele KJ, De Keulenaer BL, Parizel PM
 タイトル      Tuberculosis: epidemiology, manifestations, and the value of medical imaging in diagnosis.
 雑誌        JBR-BTR 89:243-50 (2006)
 PMID:21420161
 著者        Lawn SD, Zumla AI
 タイトル      Tuberculosis.
 雑誌        Lancet 378:57-72 (2011)
 DOI:10.1016/S0140-6736(10)62173-3
 PMID:16690980 (IFNG IFNGR1 IFNGR2)
 著者        Cooke GS, Campbell SJ, Sillah J, Gustafson P, Bah B, Sirugo G, Bennett S, McAdam KP, Sow O, Lienhardt C, Hill AV
 タイトル      Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis.
 雑誌        Am J Respir Crit Care Med 174:339-43 (2006)
 DOI:10.1164/rccm.200601-088OC
 PMID:24024195 (SLC11A1 VDR HLA-DRB1 HLA-DQB1)
 著者        Wu F, Zhang W, Zhang L, Wu J, Li C, Meng X, Wang X, He P, Zhang J
 タイトル      NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study.
 雑誌        Biomed Res Int 2013:484535 (2013)
 DOI:10.1155/2013/484535
 PMID:16103355 (SLC11A1)
 著者        Malik S, Abel L, Tooker H, Poon A, Simkin L, Girard M, Adams GJ, Starke JR, Smith KC, Graviss EA, Musser JM, Schurr E
 タイトル      Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.
 雑誌        Proc Natl Acad Sci U S A 102:12183-8 (2005)
 DOI:10.1073/pnas.0503368102
 PMID:32847384 (VDR)
 著者        Maruthai K, Sankar S, Subramanian M
 タイトル      Methylation Status of VDR Gene and its Association with Vitamin D Status and VDR Gene Expression in Pediatric Tuberculosis Disease.
 雑誌        Immunol Invest 51:73-87 (2022)
 DOI:10.1080/08820139.2020.1810702
 PMID:33270011 (MBL2)
 著者        Taheri M, Karimloo R, Sarani H, Molashahi B, Naderi M, Bahari G, Hashemi M
 タイトル      Association Study of MBL2 Gene Polymorphisms and Risk of Tuberculosis in Southeast of Iran.
 雑誌        Prague Med Rep 121:236-243 (2020)
 DOI:10.14712/23362936.2020.20
 PMID:20041183 (CCL2)
 著者        Hasan Z, Cliff JM, Dockrell HM, Jamil B, Irfan M, Ashraf M, Hussain R
 タイトル      CCL2 responses to Mycobacterium tuberculosis are associated with disease severity in tuberculosis.
 雑誌        PLoS One 4:e8459 (2009)
 DOI:10.1371/journal.pone.0008459
 PMID:16379498 (CD209)
 著者        Barreiro LB, Neyrolles O, Babb CL, Tailleux L, Quach H, McElreavey K, Helden PD, Hoal EG, Gicquel B, Quintana-Murci L
 タイトル      Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis.
 雑誌        PLoS Med 3:e20 (2006)
 DOI:10.1371/journal.pmed.0030020
 PMID:28954234 (CISH)
 著者        Queval CJ, Song OR, Carralot JP, Saliou JM, Bongiovanni A, Deloison G, Deboosere N, Jouny S, Iantomasi R, Delorme V, Debrie AS, Park SJ, Gouveia JC, Tomavo S, Brosch R, Yoshimura A, Yeramian E, Brodin P
 タイトル      Mycobacterium tuberculosis Controls Phagosomal Acidification by Targeting CISH-Mediated Signaling.
 雑誌        Cell Rep 20:3188-3198 (2017)
 DOI:10.1016/j.celrep.2017.08.101
 PMID:19750224 (IRGM)
 著者        Intemann CD, Thye T, Niemann S, Browne EN, Amanua Chinbuah M, Enimil A, Gyapong J, Osei I, Owusu-Dabo E, Helm S, Rusch-Gerdes S, Horstmann RD, Meyer CG
 タイトル      Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
 雑誌        PLoS Pathog 5:e1000577 (2009)
 DOI:10.1371/journal.ppat.1000577
 PMID:17149599 (SP110)
 著者        Szeszko JS, Healy B, Stevens H, Balabanova Y, Drobniewski F, Todd JA, Nejentsev S
 タイトル      Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.
 雑誌        Hum Genet 121:155-60 (2007)
 DOI:10.1007/s00439-006-0293-z
 PMID:18305471 (TIRAP)
 著者        Nejentsev S, Thye T, Szeszko JS, Stevens H, Balabanova Y, Chinbuah AM, Hibberd M, van de Vosse E, Alisjahbana B, van Crevel R, Ottenhoff TH, Png E, Drobniewski F, Todd JA, Seielstad M, Horstmann RD
 タイトル      Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.
 雑誌        Nat Genet 40:261-2; author reply 262-3 (2008)
 DOI:10.1038/ng0308-261
 PMID:14979495 (TLR2)
 著者        Ogus AC, Yoldas B, Ozdemir T, Uguz A, Olcen S, Keser I, Coskun M, Cilli A, Yegin O
 タイトル      The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease.
 雑誌        Eur Respir J 23:219-23 (2004)
 DOI:10.1183/09031936.03.00061703","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00342"">H00342</a>","結核
 下位グループ    多剤耐性結核 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01472"">H01472</a>]","Tuberculosis is an infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis may arise either from a recent infection with M. tuberculosis, or from the reactivation of dormant bacilli, years or decades after initial infection. Extrapulmonary tuberculosis mainly results from reactivation of a tuberculous focus after hematogenous dissemination or lymphogenous spread from a primary, usually pulmonary focus.",,"IFNG (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3458"">3458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04687"">K04687</a>]
 IFNGR1 (susceptibility/protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3459"">3459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05132"">K05132</a>]
 IFNGR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3460"">3460</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05133"">K05133</a>]
 HLA-DRB1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 SLC11A1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6556"">6556</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12347"">K12347</a>]
 VDR (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7421"">7421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08539"">K08539</a>]
 MBL2 (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4153"">4153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03991"">K03991</a>]
 CCL2 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6347"">6347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14624"">K14624</a>]
 CD209 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30835"">30835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06563"">K06563</a>]
 CISH (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1154"">1154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04701"">K04701</a>]
 IRGM (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345611"">345611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14139"">K14139</a>]
 SP110 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3431"">3431</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24503"">K24503</a>]
 TIRAP (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114609"">114609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05403"">K05403</a>]
 TLR2 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7097"">7097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10159"">K10159</a>]","Mycobacterium tuberculosis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtu"">mtu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtc"">mtc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtf"">mtf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtb"">mtb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtk"">mtk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtg"">mtg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mti"">mti</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mte"">mte</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtl"">mtl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mto"">mto</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtd"">mtd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtj"">mtj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtuc"">mtuc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtue"">mtue</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtuh"">mtuh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:maf"">maf</a>]
 Mycobacterium canettii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mce"">mce</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mcq"">mcq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mcv"">mcv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mcx"">mcx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mcz"">mcz</a>]",,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 柴胡桂枝湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06964"">D06964</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]
 サイクロセリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00877"">D00877</a>]
 リファンピシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00211"">D00211</a>]
 エンビオマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03278"">D03278</a>]
 カナマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03262"">D03262</a>]
 リファブチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00424"">D00424</a>]
 パラアミノサリチル酸カルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03368"">D03368</a>]
 アルミノパラアミノサリチル酸カルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01643"">D01643</a>]
 イソニアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00346"">D00346</a>]
 イソニアジドメタンスルホン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02002"">D02002</a>]
 ピラジナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00144"">D00144</a>]
 エチオナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00591"">D00591</a>]
 エタンブトール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00878"">D00878</a>]
 乾燥BCGワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06466"">D06466</a>]",,"ICD-11: 1B10 1B11 1B12
 ICD-10: A15 A16 A17 A18 A19
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014376"">D014376</a>
 MedlinePlus: 000077
 OMIM: <a href=""https://www.omim.org/entry/607948"">607948</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20206579"">20206579</a>
 著者        Moller M, Hoal EG
 タイトル      Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis.
 雑誌        Tuberculosis (Edinb) 90:71-83 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.tube.2010.02.002"">10.1016/j.tube.2010.02.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17147011"">17147011</a>
 著者        De Backer AI, Mortele KJ, De Keulenaer BL, Parizel PM
 タイトル      Tuberculosis: epidemiology, manifestations, and the value of medical imaging in diagnosis.
 雑誌        JBR-BTR 89:243-50 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21420161"">21420161</a>
 著者        Lawn SD, Zumla AI
 タイトル      Tuberculosis.
 雑誌        Lancet 378:57-72 (2011)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)62173-3"">10.1016/S0140-6736(10)62173-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16690980"">16690980</a> (IFNG <a href=""https://pubmed.ncbi.nlm.nih.gov/IFNGR1"">IFNGR1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IFNGR2)"">IFNGR2)</a>
 著者        Cooke GS, Campbell SJ, Sillah J, Gustafson P, Bah B, Sirugo G, Bennett S, McAdam KP, Sow O, Lienhardt C, Hill AV
 タイトル      Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis.
 雑誌        Am J Respir Crit Care Med 174:339-43 (2006)
 DOI:<a href=""https://doi.org/10.1164/rccm.200601-088OC"">10.1164/rccm.200601-088OC</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24024195"">24024195</a> (SLC11A1 <a href=""https://pubmed.ncbi.nlm.nih.gov/VDR"">VDR</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DRB1"">HLA-DRB1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DQB1)"">HLA-DQB1)</a>
 著者        Wu F, Zhang W, Zhang L, Wu J, Li C, Meng X, Wang X, He P, Zhang J
 タイトル      NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study.
 雑誌        Biomed Res Int 2013:484535 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/484535"">10.1155/2013/484535</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16103355"">16103355</a> (SLC11A1)
 著者        Malik S, Abel L, Tooker H, Poon A, Simkin L, Girard M, Adams GJ, Starke JR, Smith KC, Graviss EA, Musser JM, Schurr E
 タイトル      Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.
 雑誌        Proc Natl Acad Sci U S A 102:12183-8 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0503368102"">10.1073/pnas.0503368102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32847384"">32847384</a> (VDR)
 著者        Maruthai K, Sankar S, Subramanian M
 タイトル      Methylation Status of VDR Gene and its Association with Vitamin D Status and VDR Gene Expression in Pediatric Tuberculosis Disease.
 雑誌        Immunol Invest 51:73-87 (2022)
 DOI:<a href=""https://doi.org/10.1080/08820139.2020.1810702"">10.1080/08820139.2020.1810702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33270011"">33270011</a> (MBL2)
 著者        Taheri M, Karimloo R, Sarani H, Molashahi B, Naderi M, Bahari G, Hashemi M
 タイトル      Association Study of MBL2 Gene Polymorphisms and Risk of Tuberculosis in Southeast of Iran.
 雑誌        Prague Med Rep 121:236-243 (2020)
 DOI:<a href=""https://doi.org/10.14712/23362936.2020.20"">10.14712/23362936.2020.20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20041183"">20041183</a> (CCL2)
 著者        Hasan Z, Cliff JM, Dockrell HM, Jamil B, Irfan M, Ashraf M, Hussain R
 タイトル      CCL2 responses to Mycobacterium tuberculosis are associated with disease severity in tuberculosis.
 雑誌        PLoS One 4:e8459 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0008459"">10.1371/journal.pone.0008459</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379498"">16379498</a> (CD209)
 著者        Barreiro LB, Neyrolles O, Babb CL, Tailleux L, Quach H, McElreavey K, Helden PD, Hoal EG, Gicquel B, Quintana-Murci L
 タイトル      Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis.
 雑誌        PLoS Med 3:e20 (2006)
 DOI:<a href=""https://doi.org/10.1371/journal.pmed.0030020"">10.1371/journal.pmed.0030020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28954234"">28954234</a> (CISH)
 著者        Queval CJ, Song OR, Carralot JP, Saliou JM, Bongiovanni A, Deloison G, Deboosere N, Jouny S, Iantomasi R, Delorme V, Debrie AS, Park SJ, Gouveia JC, Tomavo S, Brosch R, Yoshimura A, Yeramian E, Brodin P
 タイトル      Mycobacterium tuberculosis Controls Phagosomal Acidification by Targeting CISH-Mediated Signaling.
 雑誌        Cell Rep 20:3188-3198 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.celrep.2017.08.101"">10.1016/j.celrep.2017.08.101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19750224"">19750224</a> (IRGM)
 著者        Intemann CD, Thye T, Niemann S, Browne EN, Amanua Chinbuah M, Enimil A, Gyapong J, Osei I, Owusu-Dabo E, Helm S, Rusch-Gerdes S, Horstmann RD, Meyer CG
 タイトル      Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
 雑誌        PLoS Pathog 5:e1000577 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.ppat.1000577"">10.1371/journal.ppat.1000577</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17149599"">17149599</a> (SP110)
 著者        Szeszko JS, Healy B, Stevens H, Balabanova Y, Drobniewski F, Todd JA, Nejentsev S
 タイトル      Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.
 雑誌        Hum Genet 121:155-60 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00439-006-0293-z"">10.1007/s00439-006-0293-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18305471"">18305471</a> (TIRAP)
 著者        Nejentsev S, Thye T, Szeszko JS, Stevens H, Balabanova Y, Chinbuah AM, Hibberd M, van de Vosse E, Alisjahbana B, van Crevel R, Ottenhoff TH, Png E, Drobniewski F, Todd JA, Seielstad M, Horstmann RD
 タイトル      Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.
 雑誌        Nat Genet 40:261-2; author reply 262-3 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng0308-261"">10.1038/ng0308-261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14979495"">14979495</a> (TLR2)
 著者        Ogus AC, Yoldas B, Ozdemir T, Uguz A, Olcen S, Keser I, Coskun M, Cilli A, Yegin O
 タイトル      The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease.
 雑誌        Eur Respir J 23:219-23 (2004)
 DOI:<a href=""https://doi.org/10.1183/09031936.03.00061703"">10.1183/09031936.03.00061703</a>"
H00343,ジフテリア,,,"Diphtheria is a contagious and potentially life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the 1940s and the incidence of the disease markedly decreased. However, diphtheria still remains endemic in several regions including Africa, India, Bangladesh, Vietnam, the tropics, and South America. Moreover, a large proportion of adults in industrialized countries are now susceptible to diphtheria because the protection by vaccine does not last for long time unless periodic booster is given.",感染症,,,"Corynebacterium diphtheriae [GN:cdi cdp cdz cdd cdw cdv]
 diphtheria toxin [KO:K00776]",,,"ベンジルペニシリンカリウム [DR:D01053]
 エリスロマイシン [DR:D00140]
 エリスロマイシンエチルコハク酸エステル [DR:D01361]
 エリスロマイシンラクトビオン酸塩 [DR:D02009]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 成人用沈降ジフテリアトキソイド [DR:D03927]
 乾燥ジフテリアウマ抗毒素 [DR:D03925]
 沈降ジフテリア破傷風混合トキソイド [DR:D05257]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:D05356]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:D10214]",,"ICD-11: 1C17
 ICD-10: A36
 MeSH: D004165
 MedlinePlus: 001608","(drug)
 著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:15049077
 著者        Mattos-Guaraldi AL, Moreira LO, Damasco PV, Hirata Junior R
 タイトル      Diphtheria remains a threat to health in the developing world--an overview.
 雑誌        Mem Inst Oswaldo Cruz 98:987-93 (2003)
 DOI:10.1590/S0074-02762003000800001
 PMID:7489768
 著者        Galazka AM, Robertson SE
 タイトル      Diphtheria: changing patterns in the developing world and the industrialized world.
 雑誌        Eur J Epidemiol 11:107-17 (1995)
 DOI:10.1007/BF01719955
 PMID:7489783
 著者        Galazka AM, Robertson SE, Oblapenko GP
 タイトル      Resurgence of diphtheria.
 雑誌        Eur J Epidemiol 11:95-105 (1995)
 DOI:10.1007/BF01719954","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00343"">H00343</a>",ジフテリア,"Diphtheria is a contagious and potentially life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the 1940s and the incidence of the disease markedly decreased. However, diphtheria still remains endemic in several regions including Africa, India, Bangladesh, Vietnam, the tropics, and South America. Moreover, a large proportion of adults in industrialized countries are now susceptible to diphtheria because the protection by vaccine does not last for long time unless periodic booster is given.",,,"Corynebacterium diphtheriae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdi"">cdi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdp"">cdp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdz"">cdz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdd"">cdd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdw"">cdw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdv"">cdv</a>]
 diphtheria toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00776"">K00776</a>]",,,"ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンエチルコハク酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01361"">D01361</a>]
 エリスロマイシンラクトビオン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02009"">D02009</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 成人用沈降ジフテリアトキソイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03927"">D03927</a>]
 乾燥ジフテリアウマ抗毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03925"">D03925</a>]
 沈降ジフテリア破傷風混合トキソイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05257"">D05257</a>]
 沈降精製百日せきジフテリア破傷風混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05356"">D05356</a>]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10214"">D10214</a>]",,"ICD-11: 1C17
 ICD-10: A36
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004165"">D004165</a>
 MedlinePlus: 001608","(drug)
 著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15049077"">15049077</a>
 著者        Mattos-Guaraldi AL, Moreira LO, Damasco PV, Hirata Junior R
 タイトル      Diphtheria remains a threat to health in the developing world--an overview.
 雑誌        Mem Inst Oswaldo Cruz 98:987-93 (2003)
 DOI:<a href=""https://doi.org/10.1590/S0074-02762003000800001"">10.1590/S0074-02762003000800001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7489768"">7489768</a>
 著者        Galazka AM, Robertson SE
 タイトル      Diphtheria: changing patterns in the developing world and the industrialized world.
 雑誌        Eur J Epidemiol 11:107-17 (1995)
 DOI:<a href=""https://doi.org/10.1007/BF01719955"">10.1007/BF01719955</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7489783"">7489783</a>
 著者        Galazka AM, Robertson SE, Oblapenko GP
 タイトル      Resurgence of diphtheria.
 雑誌        Eur J Epidemiol 11:95-105 (1995)
 DOI:<a href=""https://doi.org/10.1007/BF01719954"">10.1007/BF01719954</a>"
H00344,ハンセン病,,,"Leprosy, also called Hansen's disease, is a chronic infection caused by Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract.",感染症,,"(LPRS3) TLR2 (polymorphism) [HSA:7097] [KO:K10159]
 (LPRS4) LTA (polymorphism) [HSA:4049] [KO:K05468]
 (LPRS5) TLR1 (polymorphism) [HSA:7096] [KO:K05398]
 PRKN (polymorphism) [HSA:5071] [KO:K04556]
 HLA [HSA:3105 3106 3107 3133 3134 3135] [KO:K06751]","Mycobacterium leprae [GN:mle] (from India)
 Mycobacterium leprae [GN:mlb] (from Brazil)
 Mycobacterium lepromatosis [GN:mlm]",,,"オフロキサシン [DR:D00453]
 ジアフェニルスルホン [DR:D00592]
 リファンピシン [DR:D00211]
 クロファジミン [DR:D00278]",,"ICD-11: 1B20
 ICD-10: A30
 MeSH: D007918
 OMIM: 613223 246300 610988 607572 609888
 MedlinePlus: 001347","PMID:21616456
 著者        Rodrigues LC, Lockwood DNj
 タイトル      Leprosy now: epidemiology, progress, challenges, and research gaps.
 雑誌        Lancet Infect Dis 11:464-70 (2011)
 DOI:10.1016/S1473-3099(11)70006-8
 PMID:32339201
 著者        Ploemacher T, Faber WR, Menke H, Rutten V, Pieters T
 タイトル      Reservoirs and transmission routes of leprosy; A systematic review.
 雑誌        PLoS Negl Trop Dis 14:e0008276 (2020)
 DOI:10.1371/journal.pntd.0008276
 PMID:15726416 (TLR2)
 著者        Malhotra D, Relhan V, Reddy BS, Bamezai R
 タイトル      TLR2 Arg677Trp polymorphism in leprosy: revisited.
 雑誌        Hum Genet 116:413-5 (2005)
 DOI:10.1007/s00439-004-1249-9
 PMID:17353895 (LTA)
 著者        Alcais A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M, Vanderborght PR, Katoch K, Mira MT, Vu HT, Ngyuen TH, Nguyen NB, Moraes M, Mehra N, Schurr E, Abel L
 タイトル      Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy.
 雑誌        Nat Genet 39:517-22 (2007)
 DOI:10.1038/ng2000
 PMID:17548585 (TLR1)
 著者        Johnson CM, Lyle EA, Omueti KO, Stepensky VA, Yegin O, Alpsoy E, Hamann L, Schumann RR, Tapping RI
 タイトル      Cutting edge: A common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy.
 雑誌        J Immunol 178:7520-4 (2007)
 DOI:10.4049/jimmunol.178.12.7520
 PMID:14737177 (PRKN)
 著者        Mira MT, Alcais A, Nguyen VT, Moraes MO, Di Flumeri C, Vu HT, Mai CP, Nguyen TH, Nguyen NB, Pham XK, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Dore C, Gallant CJ, Lepage P, Verner A, Van De Vosse E, Hudson TJ, Abel L, Schurr E
 タイトル      Susceptibility to leprosy is associated with PARK2 and PACRG.
 雑誌        Nature 427:636-40 (2004)
 DOI:10.1038/nature02326
 PMID:16728267 (HLA)
 著者        Geluk A, Ottenhoff TH
 タイトル      HLA and leprosy in the pre and postgenomic eras.
 雑誌        Hum Immunol 67:439-45 (2006)
 DOI:10.1016/j.humimm.2006.03.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00344"">H00344</a>",ハンセン病,"Leprosy, also called Hansen's disease, is a chronic infection caused by Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract.",,"(LPRS3) TLR2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7097"">7097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10159"">K10159</a>]
 (LPRS4) LTA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4049"">4049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05468"">K05468</a>]
 (LPRS5) TLR1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7096"">7096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05398"">K05398</a>]
 PRKN (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5071"">5071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04556"">K04556</a>]
 HLA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3105"">3105</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3107"">3107</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3133"">3133</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3134"">3134</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3135"">3135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]","Mycobacterium leprae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mle"">mle</a>] (from India)
 Mycobacterium leprae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mlb"">mlb</a>] (from Brazil)
 Mycobacterium lepromatosis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mlm"">mlm</a>]",,,"オフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00453"">D00453</a>]
 ジアフェニルスルホン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00592"">D00592</a>]
 リファンピシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00211"">D00211</a>]
 クロファジミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00278"">D00278</a>]",,"ICD-11: 1B20
 ICD-10: A30
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007918"">D007918</a>
 OMIM: <a href=""https://www.omim.org/entry/613223"">613223</a> <a href=""https://www.omim.org/entry/246300"">246300</a> <a href=""https://www.omim.org/entry/610988"">610988</a> <a href=""https://www.omim.org/entry/607572"">607572</a> <a href=""https://www.omim.org/entry/609888"">609888</a>
 MedlinePlus: 001347","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21616456"">21616456</a>
 著者        Rodrigues LC, Lockwood DNj
 タイトル      Leprosy now: epidemiology, progress, challenges, and research gaps.
 雑誌        Lancet Infect Dis 11:464-70 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(11)70006-8"">10.1016/S1473-3099(11)70006-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32339201"">32339201</a>
 著者        Ploemacher T, Faber WR, Menke H, Rutten V, Pieters T
 タイトル      Reservoirs and transmission routes of leprosy; A systematic review.
 雑誌        PLoS Negl Trop Dis 14:e0008276 (2020)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0008276"">10.1371/journal.pntd.0008276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15726416"">15726416</a> (TLR2)
 著者        Malhotra D, Relhan V, Reddy BS, Bamezai R
 タイトル      TLR2 Arg677Trp polymorphism in leprosy: revisited.
 雑誌        Hum Genet 116:413-5 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-004-1249-9"">10.1007/s00439-004-1249-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17353895"">17353895</a> (LTA)
 著者        Alcais A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M, Vanderborght PR, Katoch K, Mira MT, Vu HT, Ngyuen TH, Nguyen NB, Moraes M, Mehra N, Schurr E, Abel L
 タイトル      Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy.
 雑誌        Nat Genet 39:517-22 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2000"">10.1038/ng2000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17548585"">17548585</a> (TLR1)
 著者        Johnson CM, Lyle EA, Omueti KO, Stepensky VA, Yegin O, Alpsoy E, Hamann L, Schumann RR, Tapping RI
 タイトル      Cutting edge: A common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy.
 雑誌        J Immunol 178:7520-4 (2007)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.178.12.7520"">10.4049/jimmunol.178.12.7520</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14737177"">14737177</a> (PRKN)
 著者        Mira MT, Alcais A, Nguyen VT, Moraes MO, Di Flumeri C, Vu HT, Mai CP, Nguyen TH, Nguyen NB, Pham XK, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Dore C, Gallant CJ, Lepage P, Verner A, Van De Vosse E, Hudson TJ, Abel L, Schurr E
 タイトル      Susceptibility to leprosy is associated with PARK2 and PACRG.
 雑誌        Nature 427:636-40 (2004)
 DOI:<a href=""https://doi.org/10.1038/nature02326"">10.1038/nature02326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16728267"">16728267</a> (HLA)
 著者        Geluk A, Ottenhoff TH
 タイトル      HLA and leprosy in the pre and postgenomic eras.
 雑誌        Hum Immunol 67:439-45 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.humimm.2006.03.009"">10.1016/j.humimm.2006.03.009</a>"
H00345,ノカルジア症,,,"Nocardiosis is an uncommon gram-positive bacterial infection that affects mainly patients with deficient cell-mediated immunity. It has been reported worldwide in all ages and ethnic groups. Pulmonary disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues.",感染症,,,"Nocardia farcinica [GN:nfa]
 Nocardia brasiliensis
 Nocardia asteroides sensu stricto
 Nocardia nova
 Nocardia cyriacigeorgica [GN:ncy]",,,,,"ICD-11: 1C1B
 ICD-10: A43
 MeSH: D009617
 MedlinePlus: 000679","PMID:20306281
 著者        Ambrosioni J, Lew D, Garbino J
 タイトル      Nocardiosis: updated clinical review and experience at a tertiary center.
 雑誌        Infection 38:89-97 (2010)
 DOI:10.1007/s15010-009-9193-9
 PMID:20463251
 著者        Sullivan DC, Chapman SW
 タイトル      Bacteria that masquerade as fungi: actinomycosis/nocardia.
 雑誌        Proc Am Thorac Soc 7:216-21 (2010)
 DOI:10.1513/pats.200907-077AL
 PMID:16614249
 著者        Brown-Elliott BA, Brown JM, Conville PS, Wallace RJ Jr
 タイトル      Clinical and laboratory features of the Nocardia spp. based on current molecular taxonomy.
 雑誌        Clin Microbiol Rev 19:259-82 (2006)
 DOI:10.1128/CMR.19.2.259-282.2006
 PMID:18427245
 著者        Martinez R, Reyes S, Menendez R
 タイトル      Pulmonary nocardiosis: risk factors, clinical features, diagnosis and prognosis.
 雑誌        Curr Opin Pulm Med 14:219-27 (2008)
 DOI:10.1097/MCP.0b013e3282f85dd3
 PMID:19387343
 著者        Lalitha P
 タイトル      Nocardia keratitis.
 雑誌        Curr Opin Ophthalmol 20:318-23 (2009)
 DOI:10.1097/ICU.0b013e32832c3bcc","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00345"">H00345</a>",ノカルジア症,"Nocardiosis is an uncommon gram-positive bacterial infection that affects mainly patients with deficient cell-mediated immunity. It has been reported worldwide in all ages and ethnic groups. Pulmonary disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues.",,,"Nocardia farcinica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nfa"">nfa</a>]
 Nocardia brasiliensis
 Nocardia asteroides sensu stricto
 Nocardia nova
 Nocardia cyriacigeorgica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ncy"">ncy</a>]",,,,,"ICD-11: 1C1B
 ICD-10: A43
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009617"">D009617</a>
 MedlinePlus: 000679","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20306281"">20306281</a>
 著者        Ambrosioni J, Lew D, Garbino J
 タイトル      Nocardiosis: updated clinical review and experience at a tertiary center.
 雑誌        Infection 38:89-97 (2010)
 DOI:<a href=""https://doi.org/10.1007/s15010-009-9193-9"">10.1007/s15010-009-9193-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20463251"">20463251</a>
 著者        Sullivan DC, Chapman SW
 タイトル      Bacteria that masquerade as fungi: actinomycosis/nocardia.
 雑誌        Proc Am Thorac Soc 7:216-21 (2010)
 DOI:<a href=""https://doi.org/10.1513/pats.200907-077AL"">10.1513/pats.200907-077AL</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16614249"">16614249</a>
 著者        Brown-Elliott BA, Brown JM, Conville PS, Wallace RJ Jr
 タイトル      Clinical and laboratory features of the Nocardia spp. based on current molecular taxonomy.
 雑誌        Clin Microbiol Rev 19:259-82 (2006)
 DOI:<a href=""https://doi.org/10.1128/CMR.19.2.259-282.2006"">10.1128/CMR.19.2.259-282.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18427245"">18427245</a>
 著者        Martinez R, Reyes S, Menendez R
 タイトル      Pulmonary nocardiosis: risk factors, clinical features, diagnosis and prognosis.
 雑誌        Curr Opin Pulm Med 14:219-27 (2008)
 DOI:<a href=""https://doi.org/10.1097/MCP.0b013e3282f85dd3"">10.1097/MCP.0b013e3282f85dd3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19387343"">19387343</a>
 著者        Lalitha P
 タイトル      Nocardia keratitis.
 雑誌        Curr Opin Ophthalmol 20:318-23 (2009)
 DOI:<a href=""https://doi.org/10.1097/ICU.0b013e32832c3bcc"">10.1097/ICU.0b013e32832c3bcc</a>"
H00346,"外因性アレルギー性肺胞炎;
 過敏性肺炎",,,"Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is caused by repeated inhalation of mainly organic antigens by sensitized subjects. This induces a hypersensitivity response in the distal bronchioles and alveoli and subjects may present clinically with a variety of symptoms. EAA is caused by a wide variety of antigens including bacteria, organic materials, fungal spores, and chemicals. Of the various EAA syndromes, Farmer's lung and Bird fancier's disease are the commonest forms that have been studied. EAA is a complex dynamic clinical syndrome where clinical expression depends on the frequency and amount of contact with antigen and host susceptibility. The manifestations and symptoms can be complicated by self-regulatory measures performed by those affected individuals to reduce antigen exposure. There are many individuals with a positive antibody reaction who remain asymptomatic. EAA traditionally has been described as occurring in a state of acute, subacute, and chronic form.",免疫系疾患,,,,,,,,"ICD-11: CA70
 ICD-10: J67
 MeSH: D000542
 MedlinePlus: 000109","PMID:16635083 (description, env_factor)
 著者        Ismail T, McSharry C, Boyd G
 タイトル      Extrinsic allergic alveolitis.
 雑誌        Respirology 11:262-8 (2006)
 DOI:10.1111/j.1440-1843.2006.00839.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00346"">H00346</a>","外因性アレルギー性肺胞炎;
 過敏性肺炎","Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is caused by repeated inhalation of mainly organic antigens by sensitized subjects. This induces a hypersensitivity response in the distal bronchioles and alveoli and subjects may present clinically with a variety of symptoms. EAA is caused by a wide variety of antigens including bacteria, organic materials, fungal spores, and chemicals. Of the various EAA syndromes, Farmer's lung and Bird fancier's disease are the commonest forms that have been studied. EAA is a complex dynamic clinical syndrome where clinical expression depends on the frequency and amount of contact with antigen and host susceptibility. The manifestations and symptoms can be complicated by self-regulatory measures performed by those affected individuals to reduce antigen exposure. There are many individuals with a positive antibody reaction who remain asymptomatic. EAA traditionally has been described as occurring in a state of acute, subacute, and chronic form.",,,,,,,,"ICD-11: CA70
 ICD-10: J67
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000542"">D000542</a>
 MedlinePlus: 000109","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16635083"">16635083</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Ismail T, McSharry C, Boyd G
 タイトル      Extrinsic allergic alveolitis.
 雑誌        Respirology 11:262-8 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1843.2006.00839.x"">10.1111/j.1440-1843.2006.00839.x</a>"
H00347,"性器クラミジア感染症;
 クラミジア性尿道炎",,,"Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Chlamydial infection can cause cervicitis in women and urethritis in men. Most of these infections are asymptomatic but, if not treated, can lead to non-gonococcal urethritis and post-gonococcal urethritis in men. Urethritis can be complicated by acute epididymitis.",感染症,,,Chlamydia trachomatis [GN:ctr ctrd ctro ctrt ctg ctk csw ces ctrb ctre ctrs cfs cfw ctfw ctrf ctch ctn ctq ctv ctw ctrg ctri ctra ctrh ctrj ctrk],,,,,"ICD-11: 1A81
 ICD-10: A56.0 N37.0
 MeSH: D002690
 MedlinePlus: 000659 000439","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:20358033
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:10.3238/arztebl.2010.0174
 PMID:19220334
 著者        Bebear C, de Barbeyrac B
 タイトル      Genital Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Infect 15:4-10 (2009)
 DOI:10.1111/j.1469-0691.2008.02647.x
 PMID:8993862
 著者        Black CM
 タイトル      Current methods of laboratory diagnosis of Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Rev 10:160-84 (1997)
 DOI:10.1128/CMR.10.1.160-184.1997","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00347"">H00347</a>","性器クラミジア感染症;
 クラミジア性尿道炎","Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Chlamydial infection can cause cervicitis in women and urethritis in men. Most of these infections are asymptomatic but, if not treated, can lead to non-gonococcal urethritis and post-gonococcal urethritis in men. Urethritis can be complicated by acute epididymitis.",,,"Chlamydia trachomatis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctr"">ctr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrd"">ctrd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctro"">ctro</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrt"">ctrt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctg"">ctg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctk"">ctk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:csw"">csw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ces"">ces</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrb"">ctrb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctre"">ctre</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrs"">ctrs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cfs"">cfs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cfw"">cfw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctfw"">ctfw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrf"">ctrf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctch"">ctch</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctn"">ctn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctq"">ctq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctv"">ctv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctw"">ctw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrg"">ctrg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctri"">ctri</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctra"">ctra</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrh"">ctrh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrj"">ctrj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrk"">ctrk</a>]",,,,,"ICD-11: 1A81
 ICD-10: A56.0 N37.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002690"">D002690</a>
 MedlinePlus: 000659 000439","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20358033"">20358033</a>
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2010.0174"">10.3238/arztebl.2010.0174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19220334"">19220334</a>
 著者        Bebear C, de Barbeyrac B
 タイトル      Genital Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Infect 15:4-10 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2008.02647.x"">10.1111/j.1469-0691.2008.02647.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8993862"">8993862</a>
 著者        Black CM
 タイトル      Current methods of laboratory diagnosis of Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Rev 10:160-84 (1997)
 DOI:<a href=""https://doi.org/10.1128/CMR.10.1.160-184.1997"">10.1128/CMR.10.1.160-184.1997</a>"
H00348,鼠径リンパ肉芽腫,,,"Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Serovars L1, L2, L2a and L3 of C. trachomatis are the agents of lymphogranuloma venereum, a disease found in isolated groups of men who have sex with men (MSM) across Western Europe, North America, and Australia.",感染症,,,Chlamydia trachomatis [GN:ctrp ctlj ctlx ctll ctb ctrr ctlf ctli ctl ctru ctrl ctrv ctrm ctla ctlm ctls ctlz ctlc ctln ctlb ctlq cto ctrn],,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 エリスロマイシン [DR:D00140]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]",,"ICD-11: 1A80
 ICD-10: A55
 MeSH: D008219
 MedlinePlus: 000634","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:20358033
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:10.3238/arztebl.2010.0174
 PMID:19220334
 著者        Bebear C, de Barbeyrac B
 タイトル      Genital Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Infect 15:4-10 (2009)
 DOI:10.1111/j.1469-0691.2008.02647.x
 PMID:8993862
 著者        Black CM
 タイトル      Current methods of laboratory diagnosis of Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Rev 10:160-84 (1997)
 DOI:10.1128/CMR.10.1.160-184.1997","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00348"">H00348</a>",鼠径リンパ肉芽腫,"Chlamydia trachomatis is a gram-negative, obligate intracellular bacterium that causes the most common sexually transmissible diseases in the world. Serovars L1, L2, L2a and L3 of C. trachomatis are the agents of lymphogranuloma venereum, a disease found in isolated groups of men who have sex with men (MSM) across Western Europe, North America, and Australia.",,,"Chlamydia trachomatis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrp"">ctrp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlj"">ctlj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlx"">ctlx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctll"">ctll</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctb"">ctb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrr"">ctrr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlf"">ctlf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctli"">ctli</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctl"">ctl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctru"">ctru</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrl"">ctrl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrv"">ctrv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrm"">ctrm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctla"">ctla</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlm"">ctlm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctls"">ctls</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlz"">ctlz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlc"">ctlc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctln"">ctln</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlb"">ctlb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctlq"">ctlq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cto"">cto</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrn"">ctrn</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]",,"ICD-11: 1A80
 ICD-10: A55
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008219"">D008219</a>
 MedlinePlus: 000634","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20358033"">20358033</a>
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2010.0174"">10.3238/arztebl.2010.0174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19220334"">19220334</a>
 著者        Bebear C, de Barbeyrac B
 タイトル      Genital Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Infect 15:4-10 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2008.02647.x"">10.1111/j.1469-0691.2008.02647.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8993862"">8993862</a>
 著者        Black CM
 タイトル      Current methods of laboratory diagnosis of Chlamydia trachomatis infections.
 雑誌        Clin Microbiol Rev 10:160-84 (1997)
 DOI:<a href=""https://doi.org/10.1128/CMR.10.1.160-184.1997"">10.1128/CMR.10.1.160-184.1997</a>"
H00349,トラコーマ,,,"Trachoma is the leading infectious cause of blindness worldwide. Infections with serovars A, B, Ba, and C of Chlamydia trachomatis cause chronic keratoconjunctivitis in children with subsequent scarring and blindness in adults. Today, trachoma is largely found in poor, rural communities in low-income countries, particularly in sub-Saharan Africa.",感染症,,,Chlamydia trachomatis [GN:cta cty cra ctrq ctrx ctrz ctj ctz ctct],,,,,"ICD-11: 1C23
 ICD-10: A71
 MeSH: D014141
 MedlinePlus: 001486","PMID:20374566
 著者        Hu VH, Harding-Esch EM, Burton MJ, Bailey RL, Kadimpeul J, Mabey DC
 タイトル      Epidemiology and control of trachoma: systematic review.
 雑誌        Trop Med Int Health 15:673-91 (2010)
 DOI:10.1111/j.1365-3156.2010.02521.x
 PMID:21738814
 著者        Smith JL, Haddad D, Polack S, Harding-Esch EM, Hooper PJ, Mabey DC, Solomon AW, Brooker S
 タイトル      Mapping the global distribution of trachoma: why an updated atlas is needed.
 雑誌        PLoS Negl Trop Dis 5:e973 (2011)
 DOI:10.1371/journal.pntd.0000973
 PMID:21412875 (drug)
 著者        Evans JR, Solomon AW
 タイトル      Antibiotics for trachoma.
 雑誌        Cochrane Database Syst Rev CD001860 (2011)
 DOI:10.1002/14651858.CD001860.pub3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00349"">H00349</a>",トラコーマ,"Trachoma is the leading infectious cause of blindness worldwide. Infections with serovars A, B, Ba, and C of Chlamydia trachomatis cause chronic keratoconjunctivitis in children with subsequent scarring and blindness in adults. Today, trachoma is largely found in poor, rural communities in low-income countries, particularly in sub-Saharan Africa.",,,"Chlamydia trachomatis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cta"">cta</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cty"">cty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cra"">cra</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrq"">ctrq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrx"">ctrx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctrz"">ctrz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctj"">ctj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctz"">ctz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctct"">ctct</a>]",,,,,"ICD-11: 1C23
 ICD-10: A71
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014141"">D014141</a>
 MedlinePlus: 001486","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20374566"">20374566</a>
 著者        Hu VH, Harding-Esch EM, Burton MJ, Bailey RL, Kadimpeul J, Mabey DC
 タイトル      Epidemiology and control of trachoma: systematic review.
 雑誌        Trop Med Int Health 15:673-91 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-3156.2010.02521.x"">10.1111/j.1365-3156.2010.02521.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21738814"">21738814</a>
 著者        Smith JL, Haddad D, Polack S, Harding-Esch EM, Hooper PJ, Mabey DC, Solomon AW, Brooker S
 タイトル      Mapping the global distribution of trachoma: why an updated atlas is needed.
 雑誌        PLoS Negl Trop Dis 5:e973 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0000973"">10.1371/journal.pntd.0000973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412875"">21412875</a> (drug)
 著者        Evans JR, Solomon AW
 タイトル      Antibiotics for trachoma.
 雑誌        Cochrane Database Syst Rev CD001860 (2011)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD001860.pub3"">10.1002/14651858.CD001860.pub3</a>"
H00350,オウム病,,,"Psittacosis, also known as parrot disease, is an infectious disease caused by Chlamydophila psittaci, a gram-negative intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation, all organ systems can be involved.",感染症,,,"Chlamydia psittaci [GN:chp chb cht cpsi]
 Working with domestic poultry",,,"ミノサイクリン塩酸塩 [DR:D00850]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]",,"ICD-11: 1C22
 ICD-10: A70
 MeSH: D009956
 MedlinePlus: 000088","PMID:20358033
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:10.3238/arztebl.2010.0174
 PMID:19220335
 著者        Beeckman DS, Vanrompay DC
 タイトル      Zoonotic Chlamydophila psittaci infections from a clinical perspective.
 雑誌        Clin Microbiol Infect 15:11-7 (2009)
 DOI:10.1111/j.1469-0691.2008.02669.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00350"">H00350</a>",オウム病,"Psittacosis, also known as parrot disease, is an infectious disease caused by Chlamydophila psittaci, a gram-negative intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation, all organ systems can be involved.",,,"Chlamydia psittaci [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:chp"">chp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:chb"">chb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cht"">cht</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpsi"">cpsi</a>]
 Working with domestic poultry",,,"ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]",,"ICD-11: 1C22
 ICD-10: A70
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009956"">D009956</a>
 MedlinePlus: 000088","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20358033"">20358033</a>
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2010.0174"">10.3238/arztebl.2010.0174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19220335"">19220335</a>
 著者        Beeckman DS, Vanrompay DC
 タイトル      Zoonotic Chlamydophila psittaci infections from a clinical perspective.
 雑誌        Clin Microbiol Infect 15:11-7 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2008.02669.x"">10.1111/j.1469-0691.2008.02669.x</a>"
H00351,クラミジア肺炎,,,"Chlamydophila (Cp.) pneumoniae is an obligate intracellular bacteria that causes human respiratory infections. Most acute respiratory infections are asymptomatic or mildly symptomatic. Repeated or prolonged exposure to Cp. pneumoniae is associated with asthmatic bronchitis and asthma, and chronic infection can contribute to the development of adult-onset asthma.",感染症,,,Chlamydophila pneumoniae [GN:cpn cpa cpj cpt],,,,,"ICD-11: CA40.00
 ICD-10: J16.0
 MeSH: D061387","PMID:20358033
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:10.3238/arztebl.2010.0174
 PMID:2056624
 著者        Hahn DL, Dodge RW, Golubjatnikov R
 タイトル      Association of Chlamydia pneumoniae (strain TWAR) infection with wheezing, asthmatic bronchitis, and adult-onset asthma.
 雑誌        JAMA 266:225-30 (1991)
 DOI:10.1001/jama.1991.03470020051031","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00351"">H00351</a>",クラミジア肺炎,"Chlamydophila (Cp.) pneumoniae is an obligate intracellular bacteria that causes human respiratory infections. Most acute respiratory infections are asymptomatic or mildly symptomatic. Repeated or prolonged exposure to Cp. pneumoniae is associated with asthmatic bronchitis and asthma, and chronic infection can contribute to the development of adult-onset asthma.",,,"Chlamydophila pneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpn"">cpn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpa"">cpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpj"">cpj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpt"">cpt</a>]",,,,,"ICD-11: CA40.00
 ICD-10: J16.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D061387"">D061387</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20358033"">20358033</a>
 著者        Rohde G, Straube E, Essig A, Reinhold P, Sachse K
 タイトル      Chlamydial zoonoses.
 雑誌        Dtsch Arztebl Int 107:174-80 (2010)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2010.0174"">10.3238/arztebl.2010.0174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2056624"">2056624</a>
 著者        Hahn DL, Dodge RW, Golubjatnikov R
 タイトル      Association of Chlamydia pneumoniae (strain TWAR) infection with wheezing, asthmatic bronchitis, and adult-onset asthma.
 雑誌        JAMA 266:225-30 (1991)
 DOI:<a href=""https://doi.org/10.1001/jama.1991.03470020051031"">10.1001/jama.1991.03470020051031</a>"
H00352,ホイップル病,,,"Whipple disease (WD) is a rare chronic multi-system disease associated with the bacterium Tropheryma whipplei that is ubiquitously present in the environment. The clinical features of WD are non-specific and histological lesions in gastrointestinal system can be the major manifestations. Patients without symptoms of gastrointestinal disease might be insufficiently treated, resulting in a potentially fatal outcome such as endocarditis, neurological infection, osteoarticular infection, or uveitis.",感染症,,,Tropheryma whipplei [GN:twh tws],,,,,"ICD-11: DA96.0
 ICD-10: K90.8
 MeSH: D008061
 MedlinePlus: 000209","PMID:21461659
 著者        Moos V, Schneider T
 タイトル      Changing paradigms in Whipple's disease and infection with Tropheryma whipplei.
 雑誌        Eur J Clin Microbiol Infect Dis 30:1151-8 (2011)
 DOI:10.1007/s10096-011-1209-y
 PMID:20708091
 著者        Desnues B, Al Moussawi K, Fenollar F
 タイトル      New insights into Whipple's disease and Tropheryma whipplei infections.
 雑誌        Microbes Infect 12:1102-10 (2010)
 DOI:10.1016/j.micinf.2010.08.001
 PMID:18291339
 著者        Schneider T, Moos V, Loddenkemper C, Marth T, Fenollar F, Raoult D
 タイトル      Whipple's disease: new aspects of pathogenesis and treatment.
 雑誌        Lancet Infect Dis 8:179-90 (2008)
 DOI:10.1016/S1473-3099(08)70042-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00352"">H00352</a>",ホイップル病,"Whipple disease (WD) is a rare chronic multi-system disease associated with the bacterium Tropheryma whipplei that is ubiquitously present in the environment. The clinical features of WD are non-specific and histological lesions in gastrointestinal system can be the major manifestations. Patients without symptoms of gastrointestinal disease might be insufficiently treated, resulting in a potentially fatal outcome such as endocarditis, neurological infection, osteoarticular infection, or uveitis.",,,"Tropheryma whipplei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:twh"">twh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tws"">tws</a>]",,,,,"ICD-11: DA96.0
 ICD-10: K90.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008061"">D008061</a>
 MedlinePlus: 000209","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21461659"">21461659</a>
 著者        Moos V, Schneider T
 タイトル      Changing paradigms in Whipple's disease and infection with Tropheryma whipplei.
 雑誌        Eur J Clin Microbiol Infect Dis 30:1151-8 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10096-011-1209-y"">10.1007/s10096-011-1209-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20708091"">20708091</a>
 著者        Desnues B, Al Moussawi K, Fenollar F
 タイトル      New insights into Whipple's disease and Tropheryma whipplei infections.
 雑誌        Microbes Infect 12:1102-10 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2010.08.001"">10.1016/j.micinf.2010.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18291339"">18291339</a>
 著者        Schneider T, Moos V, Loddenkemper C, Marth T, Fenollar F, Raoult D
 タイトル      Whipple's disease: new aspects of pathogenesis and treatment.
 雑誌        Lancet Infect Dis 8:179-90 (2008)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(08)70042-2"">10.1016/S1473-3099(08)70042-2</a>"
H00353,"ライムボレリア症;
 ライム病",,,Lyme borreliosis is the multisystem infectious disease caused by the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well. Late Lyme borreliosis usually manifests as arthritis or the skin disorder known as acrodermatitis chronica atrophicans.,感染症,,,"Borrelia burgdorferi (Lyme disease) [GN:bbu bbz bbn bbj]
 Borrelia garinii [GN:bga bgb bgc]
 Borrelia afzelii [GN:baf bafz bafh bafe]
 Borrelia bissettii [GN:bbs]
 Borrelia mayonii [GN:bmay]",,,,Vector: Ixodes sp. (tick),"ICD-11: 1C1G
 ICD-10: A69.2
 MeSH: D008193
 MedlinePlus: 001319","PMID:21903253
 著者        Stanek G, Wormser GP, Gray J, Strle F
 タイトル      Lyme borreliosis.
 雑誌        Lancet 379:461-73 (2012)
 DOI:10.1016/S0140-6736(11)60103-7
 PMID:12872317
 著者        Halperin JJ
 タイトル      Lyme disease and the peripheral nervous system.
 雑誌        Muscle Nerve 28:133-43 (2003)
 DOI:10.1002/mus.10337
 PMID:21958583
 著者        Zajkowska J, Czupryna P, Pancewicz SA, Kondrusik M, Moniuszko A
 タイトル      Acrodermatitis chronica atrophicans.
 雑誌        Lancet Infect Dis 11:800 (2011)
 DOI:10.1016/S1473-3099(10)70121-3
 PMID:15547252
 著者        Glockner G, Lehmann R, Romualdi A, Pradella S, Schulte-Spechtel U, Schilhabel M, Wilske B, Suhnel J, Platzer M.
 タイトル      Comparative analysis of the Borrelia garinii genome.
 雑誌        Nucleic Acids Res 32:6038-46 (2004)
 DOI:10.1093/nar/gkh953","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00353"">H00353</a>","ライムボレリア症;
 ライム病",Lyme borreliosis is the multisystem infectious disease caused by the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well. Late Lyme borreliosis usually manifests as arthritis or the skin disorder known as acrodermatitis chronica atrophicans.,,,"Borrelia burgdorferi (Lyme disease) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbu"">bbu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbz"">bbz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbn"">bbn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbj"">bbj</a>]
 Borrelia garinii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bga"">bga</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bgb"">bgb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bgc"">bgc</a>]
 Borrelia afzelii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:baf"">baf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bafz"">bafz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bafh"">bafh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bafe"">bafe</a>]
 Borrelia bissettii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbs"">bbs</a>]
 Borrelia mayonii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmay"">bmay</a>]",,,,Vector: Ixodes sp. (tick),"ICD-11: 1C1G
 ICD-10: A69.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008193"">D008193</a>
 MedlinePlus: 001319","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21903253"">21903253</a>
 著者        Stanek G, Wormser GP, Gray J, Strle F
 タイトル      Lyme borreliosis.
 雑誌        Lancet 379:461-73 (2012)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(11)60103-7"">10.1016/S0140-6736(11)60103-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12872317"">12872317</a>
 著者        Halperin JJ
 タイトル      Lyme disease and the peripheral nervous system.
 雑誌        Muscle Nerve 28:133-43 (2003)
 DOI:<a href=""https://doi.org/10.1002/mus.10337"">10.1002/mus.10337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21958583"">21958583</a>
 著者        Zajkowska J, Czupryna P, Pancewicz SA, Kondrusik M, Moniuszko A
 タイトル      Acrodermatitis chronica atrophicans.
 雑誌        Lancet Infect Dis 11:800 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(10)70121-3"">10.1016/S1473-3099(10)70121-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15547252"">15547252</a>
 著者        Glockner G, Lehmann R, Romualdi A, Pradella S, Schulte-Spechtel U, Schilhabel M, Wilske B, Suhnel J, Platzer M.
 タイトル      Comparative analysis of the Borrelia garinii genome.
 雑誌        Nucleic Acids Res 32:6038-46 (2004)
 DOI:<a href=""https://doi.org/10.1093/nar/gkh953"">10.1093/nar/gkh953</a>"
H00354,梅毒,,,"Syphilis is one of the oldest recognized venereal infections caused by the spirochete Treponema pallidum subsp. pallidum. It is characterized by genital ulceration, skin rash, and development of serious systemic disease. Syphilis may also alter the course of HIV disease. Effective therapy is available but the incidence is increasing in many parts of the world.",感染症,,,Treponema pallidum [GN:tpa tpw tpp tpu tph tpo tpas],,,"ミノサイクリン塩酸塩 [DR:D00850]
 ヨウ化カリウム [DR:D01016]
 ベンジルペニシリンベンザチン水和物 [DR:D02157]
 ベンジルペニシリンカリウム [DR:D01053]
 アンピシリン水和物 [DR:D01251]
 アモキシシリン水和物 [DR:D00229]
 エリスロマイシン [DR:D00140]
 エリスロマイシンエチルコハク酸エステル [DR:D01361]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 スピラマイシン酢酸エステル [DR:D02420]",,"ICD-11: 1A60 1A61 1A62
 ICD-10: A50 A51 A52 A53
 MeSH: D013587
 MedlinePlus: 001327","PMID:11825779
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:10.1016/S1286-4579(01)01513-1
 PMID:22133883
 著者        Ho EL, Lukehart SA
 タイトル      Syphilis: using modern approaches to understand an old disease.
 雑誌        J Clin Invest 121:4584-92 (2011)
 DOI:10.1172/JCI57173
 PMID:18510892
 著者        Daskalakis D
 タイトル      Syphilis: continuing public health and diagnostic challenges.
 雑誌        Curr HIV/AIDS Rep 5:72-7 (2008)
 DOI:10.1007/s11904-008-0012-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00354"">H00354</a>",梅毒,"Syphilis is one of the oldest recognized venereal infections caused by the spirochete Treponema pallidum subsp. pallidum. It is characterized by genital ulceration, skin rash, and development of serious systemic disease. Syphilis may also alter the course of HIV disease. Effective therapy is available but the incidence is increasing in many parts of the world.",,,"Treponema pallidum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpa"">tpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpw"">tpw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpp"">tpp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpu"">tpu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tph"">tph</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpo"">tpo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpas"">tpas</a>]",,,"ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ヨウ化カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01016"">D01016</a>]
 ベンジルペニシリンベンザチン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02157"">D02157</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 アンピシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01251"">D01251</a>]
 アモキシシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00229"">D00229</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンエチルコハク酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01361"">D01361</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 スピラマイシン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02420"">D02420</a>]",,"ICD-11: 1A60 1A61 1A62
 ICD-10: A50 A51 A52 A53
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013587"">D013587</a>
 MedlinePlus: 001327","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11825779"">11825779</a>
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(01)01513-1"">10.1016/S1286-4579(01)01513-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22133883"">22133883</a>
 著者        Ho EL, Lukehart SA
 タイトル      Syphilis: using modern approaches to understand an old disease.
 雑誌        J Clin Invest 121:4584-92 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI57173"">10.1172/JCI57173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18510892"">18510892</a>
 著者        Daskalakis D
 タイトル      Syphilis: continuing public health and diagnostic challenges.
 雑誌        Curr HIV/AIDS Rep 5:72-7 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11904-008-0012-6"">10.1007/s11904-008-0012-6</a>"
H00355,"レプトスピラ症;
 ワイル病",,,"Leptospirosis is a zoonosis, caused by pathogenic spirochetes belonging to the genus Leptospira. Many mammalian species and amphibians may act as reservoirs. Leptospira colonize the renal tubules of chronically infected reservoir animals and are shed via urine into the environment, and then usually gain entry to the host via mucosal surfaces or damaged skin. Clinical symptoms range from a self-resolving acute febrile illness to severe, sometimes fatal disease (Weil disease).",感染症,,,"Leptospira interrogans [GN:lil lic lis]
 Leptospira borgpetersenii [GN:lbj lbl]
 Leptospira santarosai [GN:lst]
 Leptospira kmetyi [GN:lkm]",,,"テトラサイクリン塩酸塩 [DR:D02122]
 ベンジルペニシリンカリウム [DR:D01053]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]
 ストレプトマイシン硫酸塩 [DR:D01350]",,"ICD-11: 1B91
 ICD-10: A27
 MeSH: D007922
 MedlinePlus: 001376","PMID:25437801
 著者        Lehmann JS, Matthias MA, Vinetz JM, Fouts DE
 タイトル      Leptospiral pathogenomics.
 雑誌        Pathogens 3:280-308 (2014)
 DOI:10.3390/pathogens3020280
 PMID:11292640
 著者        Levett PN
 タイトル      Leptospirosis.
 雑誌        Clin Microbiol Rev 14:296-326 (2001)
 DOI:10.1128/CMR.14.2.296-326.2001
 PMID:21874744
 著者        Lim VK
 タイトル      Leptospirosis: a re-emerging infection.
 雑誌        Malays J Pathol 33:1-5 (2011)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00355"">H00355</a>","レプトスピラ症;
 ワイル病","Leptospirosis is a zoonosis, caused by pathogenic spirochetes belonging to the genus Leptospira. Many mammalian species and amphibians may act as reservoirs. Leptospira colonize the renal tubules of chronically infected reservoir animals and are shed via urine into the environment, and then usually gain entry to the host via mucosal surfaces or damaged skin. Clinical symptoms range from a self-resolving acute febrile illness to severe, sometimes fatal disease (Weil disease).",,,"Leptospira interrogans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lil"">lil</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lic"">lic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lis"">lis</a>]
 Leptospira borgpetersenii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lbj"">lbj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lbl"">lbl</a>]
 Leptospira santarosai [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lst"">lst</a>]
 Leptospira kmetyi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lkm"">lkm</a>]",,,"テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]",,"ICD-11: 1B91
 ICD-10: A27
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007922"">D007922</a>
 MedlinePlus: 001376","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25437801"">25437801</a>
 著者        Lehmann JS, Matthias MA, Vinetz JM, Fouts DE
 タイトル      Leptospiral pathogenomics.
 雑誌        Pathogens 3:280-308 (2014)
 DOI:<a href=""https://doi.org/10.3390/pathogens3020280"">10.3390/pathogens3020280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11292640"">11292640</a>
 著者        Levett PN
 タイトル      Leptospirosis.
 雑誌        Clin Microbiol Rev 14:296-326 (2001)
 DOI:<a href=""https://doi.org/10.1128/CMR.14.2.296-326.2001"">10.1128/CMR.14.2.296-326.2001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21874744"">21874744</a>
 著者        Lim VK
 タイトル      Leptospirosis: a re-emerging infection.
 雑誌        Malays J Pathol 33:1-5 (2011)"
H00356,クリプトスポリジウム症,,,"Human cryptosporidiosis is a self-limited diarrheal disease characterized by acute, persistent, or chronic diarrhea and biliary/pulmonary disease. Transmission of the causative agent, Cryptosporidium, occurs by the fecal-oral route. Water-borne transmission often occurs. The disease can be potentially serious in immunocompromised patients.",感染症,,,"Cryptosporidium parvum [GN:cpv]
 Cryptosporidium hominis [GN:cho]",,,,The most important therapy is hydroelectrolytic resuscitation. Antiretroviral therapy appears to play a critical role in resolution of AIDS-associated cryptosporidiosis.,"ICD-11: 1A32
 ICD-10: A07.2
 MeSH: D003457
 MedlinePlus: 000617","PMID:20521158
 著者        Collinet-Adler S, Ward HD
 タイトル      Cryptosporidiosis: environmental, therapeutic, and preventive challenges.
 雑誌        Eur J Clin Microbiol Infect Dis 29:927-35 (2010)
 DOI:10.1007/s10096-010-0960-9
 PMID:12686887
 著者        Chappell CL, Okhuysen PC
 タイトル      Cryptosporidiosis.
 雑誌        Curr Opin Infect Dis 15:523-7 (2002)
 DOI:10.1097/00001432-200210000-00012
 PMID:20689422
 著者        Cabada MM, White AC Jr
 タイトル      Treatment of cryptosporidiosis: do we know what we think we know?
 雑誌        Curr Opin Infect Dis 23:494-9 (2010)
 DOI:10.1097/QCO.0b013e32833de052
 PMID:22029525
 著者        McDonald V
 タイトル      Cryptosporidiosis: host immune responses and the prospects for effective immunotherapies.
 雑誌        Expert Rev Anti Infect Ther 9:1077-86 (2011)
 DOI:10.1586/eri.11.123","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00356"">H00356</a>",クリプトスポリジウム症,"Human cryptosporidiosis is a self-limited diarrheal disease characterized by acute, persistent, or chronic diarrhea and biliary/pulmonary disease. Transmission of the causative agent, Cryptosporidium, occurs by the fecal-oral route. Water-borne transmission often occurs. The disease can be potentially serious in immunocompromised patients.",,,"Cryptosporidium parvum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpv"">cpv</a>]
 Cryptosporidium hominis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cho"">cho</a>]",,,,The most important therapy is hydroelectrolytic resuscitation. Antiretroviral therapy appears to play a critical role in resolution of AIDS-associated cryptosporidiosis.,"ICD-11: 1A32
 ICD-10: A07.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003457"">D003457</a>
 MedlinePlus: 000617","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20521158"">20521158</a>
 著者        Collinet-Adler S, Ward HD
 タイトル      Cryptosporidiosis: environmental, therapeutic, and preventive challenges.
 雑誌        Eur J Clin Microbiol Infect Dis 29:927-35 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10096-010-0960-9"">10.1007/s10096-010-0960-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12686887"">12686887</a>
 著者        Chappell CL, Okhuysen PC
 タイトル      Cryptosporidiosis.
 雑誌        Curr Opin Infect Dis 15:523-7 (2002)
 DOI:<a href=""https://doi.org/10.1097/00001432-200210000-00012"">10.1097/00001432-200210000-00012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20689422"">20689422</a>
 著者        Cabada MM, White AC Jr
 タイトル      Treatment of cryptosporidiosis: do we know what we think we know?
 雑誌        Curr Opin Infect Dis 23:494-9 (2010)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32833de052"">10.1097/QCO.0b013e32833de052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22029525"">22029525</a>
 著者        McDonald V
 タイトル      Cryptosporidiosis: host immune responses and the prospects for effective immunotherapies.
 雑誌        Expert Rev Anti Infect Ther 9:1077-86 (2011)
 DOI:<a href=""https://doi.org/10.1586/eri.11.123"">10.1586/eri.11.123</a>"
H00357,アフリカ睡眠病,,,"African trypanosomiasis is a parasitic disease affecting both humans and livestock. It is one of the most common serious protozoan infections in sub-Saharan Africa, especially in areas of conflict. Its causative agent is Trypanosoma brucei, whose protein has been shown to induce apoptosis in human brain.",感染症,,,Trypanosoma brucei [GN:tbr tbg],,,,Vector: Glossina pallidipes (tsetse fly),"ICD-11: 1F51
 ICD-10: B56
 MeSH: D014353
 MedlinePlus: 001362","PMID:19707588
 著者        Hotez PJ, Kamath A
 タイトル      Neglected tropical diseases in sub-saharan Africa: review of their prevalence, distribution, and disease burden.
 雑誌        PLoS Negl Trop Dis 3:e412 (2009)
 DOI:10.1371/journal.pntd.0000412
 PMID:14698435
 著者        Stiles JK, Whittaker J, Sarfo BY, Thompson WE, Powell MD, Bond VC
 タイトル      Trypanosome apoptotic factor mediates apoptosis in human brain vascular endothelial cells.
 雑誌        Mol Biochem Parasitol 133:229-40 (2004)
 DOI:10.1016/j.molbiopara.2003.10.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00357"">H00357</a>",アフリカ睡眠病,"African trypanosomiasis is a parasitic disease affecting both humans and livestock. It is one of the most common serious protozoan infections in sub-Saharan Africa, especially in areas of conflict. Its causative agent is Trypanosoma brucei, whose protein has been shown to induce apoptosis in human brain.",,,"Trypanosoma brucei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tbr"">tbr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tbg"">tbg</a>]",,,,Vector: Glossina pallidipes (tsetse fly),"ICD-11: 1F51
 ICD-10: B56
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014353"">D014353</a>
 MedlinePlus: 001362","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19707588"">19707588</a>
 著者        Hotez PJ, Kamath A
 タイトル      Neglected tropical diseases in sub-saharan Africa: review of their prevalence, distribution, and disease burden.
 雑誌        PLoS Negl Trop Dis 3:e412 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0000412"">10.1371/journal.pntd.0000412</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14698435"">14698435</a>
 著者        Stiles JK, Whittaker J, Sarfo BY, Thompson WE, Powell MD, Bond VC
 タイトル      Trypanosome apoptotic factor mediates apoptosis in human brain vascular endothelial cells.
 雑誌        Mol Biochem Parasitol 133:229-40 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.molbiopara.2003.10.011"">10.1016/j.molbiopara.2003.10.011</a>"
H00358,シャーガス病,,,"Chagas disease, also known as American trypanosomiasis, is caused by infection with protozoan parasite Trypanosoma cruzi. The infection is transmitted by hematophagous reduviid insect vectors through fecal contamination. The majority of infected individuals live in Latin American countries. Chagas disease is characterized by an acute phase followed by a chronic phase, with sustained inflammation that causes cardiomyopathy, digestive disorders, and neuropathies.",感染症,,,Trypanosoma cruzi [GN:tcr],,,,Vector: Rhodnius prolixus (Reduviid bug),"ICD-11: 1F53
 ICD-10: B57
 MeSH: D014355
 MedlinePlus: 001372","PMID:26222561
 著者        Bern C
 タイトル      Chagas' Disease.
 雑誌        N Engl J Med 373:456-66 (2015)
 DOI:10.1056/NEJMra1410150
 PMID:31006555
 著者        Guarner J
 タイトル      Chagas disease as example of a reemerging parasite.
 雑誌        Semin Diagn Pathol 36:164-169 (2019)
 DOI:10.1053/j.semdp.2019.04.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00358"">H00358</a>",シャーガス病,"Chagas disease, also known as American trypanosomiasis, is caused by infection with protozoan parasite Trypanosoma cruzi. The infection is transmitted by hematophagous reduviid insect vectors through fecal contamination. The majority of infected individuals live in Latin American countries. Chagas disease is characterized by an acute phase followed by a chronic phase, with sustained inflammation that causes cardiomyopathy, digestive disorders, and neuropathies.",,,"Trypanosoma cruzi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tcr"">tcr</a>]",,,,Vector: Rhodnius prolixus (Reduviid bug),"ICD-11: 1F53
 ICD-10: B57
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014355"">D014355</a>
 MedlinePlus: 001372","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26222561"">26222561</a>
 著者        Bern C
 タイトル      Chagas' Disease.
 雑誌        N Engl J Med 373:456-66 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMra1410150"">10.1056/NEJMra1410150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31006555"">31006555</a>
 著者        Guarner J
 タイトル      Chagas disease as example of a reemerging parasite.
 雑誌        Semin Diagn Pathol 36:164-169 (2019)
 DOI:<a href=""https://doi.org/10.1053/j.semdp.2019.04.008"">10.1053/j.semdp.2019.04.008</a>"
H00359,リーシュマニア症,,,"Leishmaniasis is a vector-borne disease that affects millions of people especially in developing countries of Africa, the Americas, and Asia. Leishmaniasis is caused by a protozoan parasite of the genus Leishmania transmitted to humans by phlebotomine sandflies. In humans, leishmanial infections cause cutaneous leishmaniasis (CL), mucocutaneous leishmaniasis (MCL), and visceral leishmaniasis/kala-azar (VL). There is no defined vaccine available against the disease.",感染症,,,"Leishmania major [GN:lma]
 Leishmania infantum [GN:lif]
 Leishmania mexicana MHOM/GT/2001/U1103 [GN:lmi]
 Leishmania donovani [GN:ldo]
 Leishmania braziliensis [GN:lbz]
 Leishmania panamensis [GN:lpan]",,,アムホテリシンB [DR:D00203],Vector: Phlebotomus papatasi (sand fly),"ICD-11: 1F54
 ICD-10: B55
 MeSH: D007896
 MedlinePlus: 001386","PMID:28649370
 著者        Torres-Guerrero E, Quintanilla-Cedillo MR, Ruiz-Esmenjaud J, Arenas R
 タイトル      Leishmaniasis: a review.
 雑誌        F1000Res 6:750 (2017)
 DOI:10.12688/f1000research.11120.1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00359"">H00359</a>",リーシュマニア症,"Leishmaniasis is a vector-borne disease that affects millions of people especially in developing countries of Africa, the Americas, and Asia. Leishmaniasis is caused by a protozoan parasite of the genus Leishmania transmitted to humans by phlebotomine sandflies. In humans, leishmanial infections cause cutaneous leishmaniasis (CL), mucocutaneous leishmaniasis (MCL), and visceral leishmaniasis/kala-azar (VL). There is no defined vaccine available against the disease.",,,"Leishmania major [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lma"">lma</a>]
 Leishmania infantum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lif"">lif</a>]
 Leishmania mexicana MHOM/GT/2001/U1103 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lmi"">lmi</a>]
 Leishmania donovani [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ldo"">ldo</a>]
 Leishmania braziliensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lbz"">lbz</a>]
 Leishmania panamensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lpan"">lpan</a>]",,,"アムホテリシンB [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00203"">D00203</a>]",Vector: Phlebotomus papatasi (sand fly),"ICD-11: 1F54
 ICD-10: B55
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007896"">D007896</a>
 MedlinePlus: 001386","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28649370"">28649370</a>
 著者        Torres-Guerrero E, Quintanilla-Cedillo MR, Ruiz-Esmenjaud J, Arenas R
 タイトル      Leishmaniasis: a review.
 雑誌        F1000Res 6:750 (2017)
 DOI:<a href=""https://doi.org/10.12688/f1000research.11120.1"">10.12688/f1000research.11120.1</a>"
H00360,アメーバ赤痢,,,"Amoebiasis is a parasitic disease of gastrointestinal tract caused by Entamoeba histolytica (E. histolytica), an extracellular parasitic protozoan. People living in Central and South America and Africa are at highest risk of infection. Although the majority of individuals infected with E. histolytica remain asymptomatic, some present with amoebic colitis and disseminated disease. Ingestion of contaminated water and food causes this disease.",感染症,,,Entamoeba histolytica [GN:ehi],,,"メトロニダゾール [DR:D00409]
 エリスロマイシン [DR:D00140]
 パロモマイシン硫酸塩 [DR:D00868]",,"ICD-11: 1A36
 ICD-10: A06
 MeSH: D000562
 MedlinePlus: 000298","PMID:31587966
 著者        Carrero JC, Reyes-Lopez M, Serrano-Luna J, Shibayama M, Unzueta J, Leon-Sicairos N, de la Garza M
 タイトル      Intestinal amoebiasis: 160 years of its first detection and still remains as a health problem in developing countries.
 雑誌        Int J Med Microbiol 310:151358 (2020)
 DOI:10.1016/j.ijmm.2019.151358
 PMID:30631758
 著者        Kantor M, Abrantes A, Estevez A, Schiller A, Torrent J, Gascon J, Hernandez R, Ochner C
 タイトル      Entamoeba Histolytica: Updates in Clinical Manifestation, Pathogenesis, and Vaccine Development.
 雑誌        Can J Gastroenterol Hepatol 2018:4601420 (2018)
 DOI:10.1155/2018/4601420","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00360"">H00360</a>",アメーバ赤痢,"Amoebiasis is a parasitic disease of gastrointestinal tract caused by Entamoeba histolytica (E. histolytica), an extracellular parasitic protozoan. People living in Central and South America and Africa are at highest risk of infection. Although the majority of individuals infected with E. histolytica remain asymptomatic, some present with amoebic colitis and disseminated disease. Ingestion of contaminated water and food causes this disease.",,,"Entamoeba histolytica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ehi"">ehi</a>]",,,"メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 パロモマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00868"">D00868</a>]",,"ICD-11: 1A36
 ICD-10: A06
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000562"">D000562</a>
 MedlinePlus: 000298","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31587966"">31587966</a>
 著者        Carrero JC, Reyes-Lopez M, Serrano-Luna J, Shibayama M, Unzueta J, Leon-Sicairos N, de la Garza M
 タイトル      Intestinal amoebiasis: 160 years of its first detection and still remains as a health problem in developing countries.
 雑誌        Int J Med Microbiol 310:151358 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ijmm.2019.151358"">10.1016/j.ijmm.2019.151358</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30631758"">30631758</a>
 著者        Kantor M, Abrantes A, Estevez A, Schiller A, Torrent J, Gascon J, Hernandez R, Ochner C
 タイトル      Entamoeba Histolytica: Updates in Clinical Manifestation, Pathogenesis, and Vaccine Development.
 雑誌        Can J Gastroenterol Hepatol 2018:4601420 (2018)
 DOI:<a href=""https://doi.org/10.1155/2018/4601420"">10.1155/2018/4601420</a>"
H00361,マラリア,,,"Malaria, the most common parasitic disease in the world, is caused by Plasmodium parasites that are transmitted by female Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects, including asymptomatic parasitemia, severe malaria, and death. Most severe cases occur in sub-Saharan Africa. In severe malaria, complications such as anemia, respiratory distress, renal failure, and cerebral malaria are observed in addition to cyclical fevers.",感染症,,"ACKR1 (protection) [HSA:2532] [KO:K06574]
 CD36 (susceptibility/reduced risk) [HSA:948] [KO:K06259]
 CISH (susceptibility) [HSA:1154] [KO:K04701]
 CR1 (resistance) [HSA:1378] [KO:K04011]
 FCGR2A (susceptibility) [HSA:2212] [KO:K06472]
 FCGR2B (resistance) [HSA:2213] [KO:K12560]
 G6PD (resistance) [HSA:2539] [KO:K00036]
 GYPA (resistance) [HSA:2993] [KO:K06575]
 GYPB (resistance) [HSA:2994] [KO:K20925]
 GYPC (resistance) [HSA:2995] [KO:K06576]
 HBB (resistance) [HSA:3043] [KO:K13823]
 ICAM1 (susceptibility) [HSA:3383] [KO:K06490]
 NOS2 (resistance) [HSA:4843] [KO:K13241]
 SLC4A1 (resistance) [HSA:6521] [KO:K06573]
 TIRAP (protection) [HSA:114609] [KO:K05403]
 TNF (susceptibility) [HSA:7124] [KO:K03156]","Plasmodium falciparum [GN:pfa pfd pfh] (Falciparum malaria)
 Plasmodium vivax [GN:pvx] (Vivax malaria)
 Plasmodium knowlesi H [GN:pkn]
 Plasmodium malariae
 Plasmodium ovale",,,"プリマキンリン酸塩 [DR:D02126]
 アトバコン・プログアニル塩酸塩 [DR:D02472]
 メフロキン塩酸塩 [DR:D00831]
 アルテメテル・ルメファントリン [DR:D02484]",Vector: Anopheles gambiae (African malaria mosquito) [GN:aga],"ICD-11: 1F40 1F41 1F42 1F43
 ICD-10: B50 B51 B52 B53
 MeSH: D008288
 MedlinePlus: 000621
 OMIM: 611162","PMID:23088834
 著者        Antinori S, Galimberti L, Milazzo L, Corbellino M
 タイトル      Plasmodium knowlesi: the emerging zoonotic malaria parasite.
 雑誌        Acta Trop 125:191-201 (2013)
 DOI:10.1016/j.actatropica.2012.10.008
 PMID:30712767
 著者        Plewes K, Leopold SJ, Kingston HWF, Dondorp AM
 タイトル      Malaria: What's New in the Management of Malaria?
 雑誌        Infect Dis Clin North Am 33:39-60 (2019)
 DOI:10.1016/j.idc.2018.10.002
 PMID:10570183 (ACKR1)
 著者        Zimmerman PA, Woolley I, Masinde GL, Miller SM, McNamara DT, Hazlett F, Mgone CS, Alpers MP, Genton B, Boatin BA, Kazura JW
 タイトル      Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea.
 雑誌        Proc Natl Acad Sci U S A 96:13973-7 (1999)
 DOI:10.1073/pnas.96.24.13973
 PMID:10890433 (CD36)
 著者        Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, Curtis BR, McKeigue PM, Kwiatkowski D, Greenwood BM, Snow RW, Hill AV, Scott J
 タイトル      Malaria susceptibility and CD36 mutation.
 雑誌        Nature 405:1015-6 (2000)
 DOI:10.1038/35016636
 PMID:20484391 (CISH)
 著者        Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, Hien TT, Day NP, Peshu N, Marsh K, Maitland K, Scott JA, Williams TN, Berkley JA, Floyd S, Tang NL, Fine PE, Goh DL, Hill AV
 タイトル      CISH and susceptibility to infectious diseases.
 雑誌        N Engl J Med 362:2092-101 (2010)
 DOI:10.1056/NEJMoa0905606
 PMID:18954261 (CR1)
 著者        Teeranaipong P, Ohashi J, Patarapotikul J, Kimura R, Nuchnoi P, Hananantachai H, Naka I, Putaporntip C, Jongwutiwes S, Tokunaga K
 タイトル      A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria.
 雑誌        J Infect Dis 198:1880-91 (2008)
 DOI:10.1086/593338
 PMID:12421634 (FCGR2A)
 著者        Omi K, Ohashi J, Patarapotikul J, Hananantachai H, Naka I, Looareesuwan S, Tokunaga K
 タイトル      Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria.
 雑誌        Parasitol Int 51:361-6 (2002)
 DOI:10.1016/s1383-5769(02)00040-5
 PMID:17435165 (FCGR2B)
 著者        Clatworthy MR, Willcocks L, Urban B, Langhorne J, Williams TN, Peshu N, Watkins NA, Floto RA, Smith KG
 タイトル      Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria.
 雑誌        Proc Natl Acad Sci U S A 104:7169-74 (2007)
 DOI:10.1073/pnas.0608889104
 PMID:13682585 (G6PD)
 著者        ALLISON AC, CLYDE DF
 タイトル      Malaria in African children with deficient erythrocyte glucose-6-phosphate dehydrogenase.
 雑誌        Br Med J 1:1346-9 (1961)
 DOI:10.1136/bmj.1.5236.1346
 PMID:26416757 (GYPA GYPB GYPC)
 著者        Band G, Rockett KA, Spencer CC, Kwiatkowski DP
 タイトル      A novel locus of resistance to severe malaria in a region of ancient balancing selection.
 雑誌        Nature 526:253-7 (2015)
 DOI:10.1038/nature15390
 PMID:11713529 (HBB)
 著者        Modiano D, Luoni G, Sirima BS, Simpore J, Verra F, Konate A, Rastrelli E, Olivieri A, Calissano C, Paganotti GM, D'Urbano L, Sanou I, Sawadogo A, Modiano G, Coluzzi M
 タイトル      Haemoglobin C protects against clinical Plasmodium falciparum malaria.
 雑誌        Nature 414:305-8 (2001)
 DOI:10.1038/35104556
 PMID:9259284 (ICAM1)
 著者        Fernandez-Reyes D, Craig AG, Kyes SA, Peshu N, Snow RW, Berendt AR, Marsh K, Newbold CI
 タイトル      A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya.
 雑誌        Hum Mol Genet 6:1357-60 (1997)
 DOI:10.1093/hmg/6.8.1357
 PMID:9457101 (NOS2)
 著者        Kun JF, Mordmuller B, Lell B, Lehman LG, Luckner D, Kremsner PG
 タイトル      Polymorphism in promoter region of inducible nitric oxide synthase gene and protection against malaria.
 雑誌        Lancet 351:265-6 (1998)
 DOI:10.1016/S0140-6736(05)78273-8
 PMID:10403343 (SLC4A1)
 著者        Allen SJ, O'Donnell A, Alexander ND, Mgone CS, Peto TE, Clegg JB, Alpers MP, Weatherall DJ
 タイトル      Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3.
 雑誌        Am J Trop Med Hyg 60:1056-60 (1999)
 DOI:10.4269/ajtmh.1999.60.1056
 PMID:17322885 (TIRAP)
 著者        Khor CC, Chapman SJ, Vannberg FO, Dunne A, Murphy C, Ling EY, Frodsham AJ, Walley AJ, Kyrieleis O, Khan A, Aucan C, Segal S, Moore CE, Knox K, Campbell SJ, Lienhardt C, Scott A, Aaby P, Sow OY, Grignani RT, Sillah J, Sirugo G, Peshu N, Williams TN, Maitland K, Davies RJ, Kwiatkowski DP, Day NP, Yala D, Crook DW, Marsh K, Berkley JA, O'Neill LA, Hill AV
 タイトル      A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.
 雑誌        Nat Genet 39:523-8 (2007)
 DOI:10.1038/ng1976
 PMID:7935762 (TNF)
 著者        McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D
 タイトル      Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria.
 雑誌        Nature 371:508-10 (1994)
 DOI:10.1038/371508a0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00361"">H00361</a>",マラリア,"Malaria, the most common parasitic disease in the world, is caused by Plasmodium parasites that are transmitted by female Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects, including asymptomatic parasitemia, severe malaria, and death. Most severe cases occur in sub-Saharan Africa. In severe malaria, complications such as anemia, respiratory distress, renal failure, and cerebral malaria are observed in addition to cyclical fevers.",,"ACKR1 (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2532"">2532</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06574"">K06574</a>]
 CD36 (susceptibility/reduced risk) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:948"">948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06259"">K06259</a>]
 CISH (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1154"">1154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04701"">K04701</a>]
 CR1 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1378"">1378</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04011"">K04011</a>]
 FCGR2A (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2212"">2212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06472"">K06472</a>]
 FCGR2B (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2213"">2213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12560"">K12560</a>]
 G6PD (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2539"">2539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00036"">K00036</a>]
 GYPA (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2993"">2993</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06575"">K06575</a>]
 GYPB (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2994"">2994</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20925"">K20925</a>]
 GYPC (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2995"">2995</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06576"">K06576</a>]
 HBB (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3043"">3043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13823"">K13823</a>]
 ICAM1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3383"">3383</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06490"">K06490</a>]
 NOS2 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4843"">4843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13241"">K13241</a>]
 SLC4A1 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]
 TIRAP (protection) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114609"">114609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05403"">K05403</a>]
 TNF (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7124"">7124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03156"">K03156</a>]","Plasmodium falciparum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pfa"">pfa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pfd"">pfd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pfh"">pfh</a>] (Falciparum malaria)
 Plasmodium vivax [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pvx"">pvx</a>] (Vivax malaria)
 Plasmodium knowlesi H [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pkn"">pkn</a>]
 Plasmodium malariae
 Plasmodium ovale",,,"プリマキンリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02126"">D02126</a>]
 アトバコン・プログアニル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02472"">D02472</a>]
 メフロキン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00831"">D00831</a>]
 アルテメテル・ルメファントリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02484"">D02484</a>]","Vector: Anopheles gambiae (African malaria mosquito) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aga"">aga</a>]","ICD-11: 1F40 1F41 1F42 1F43
 ICD-10: B50 B51 B52 B53
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008288"">D008288</a>
 MedlinePlus: 000621
 OMIM: <a href=""https://www.omim.org/entry/611162"">611162</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23088834"">23088834</a>
 著者        Antinori S, Galimberti L, Milazzo L, Corbellino M
 タイトル      Plasmodium knowlesi: the emerging zoonotic malaria parasite.
 雑誌        Acta Trop 125:191-201 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2012.10.008"">10.1016/j.actatropica.2012.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30712767"">30712767</a>
 著者        Plewes K, Leopold SJ, Kingston HWF, Dondorp AM
 タイトル      Malaria: What's New in the Management of Malaria?
 雑誌        Infect Dis Clin North Am 33:39-60 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2018.10.002"">10.1016/j.idc.2018.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10570183"">10570183</a> (ACKR1)
 著者        Zimmerman PA, Woolley I, Masinde GL, Miller SM, McNamara DT, Hazlett F, Mgone CS, Alpers MP, Genton B, Boatin BA, Kazura JW
 タイトル      Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea.
 雑誌        Proc Natl Acad Sci U S A 96:13973-7 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.24.13973"">10.1073/pnas.96.24.13973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10890433"">10890433</a> (CD36)
 著者        Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, Curtis BR, McKeigue PM, Kwiatkowski D, Greenwood BM, Snow RW, Hill AV, Scott J
 タイトル      Malaria susceptibility and CD36 mutation.
 雑誌        Nature 405:1015-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/35016636"">10.1038/35016636</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20484391"">20484391</a> (CISH)
 著者        Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, Hien TT, Day NP, Peshu N, Marsh K, Maitland K, Scott JA, Williams TN, Berkley JA, Floyd S, Tang NL, Fine PE, Goh DL, Hill AV
 タイトル      CISH and susceptibility to infectious diseases.
 雑誌        N Engl J Med 362:2092-101 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0905606"">10.1056/NEJMoa0905606</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18954261"">18954261</a> (CR1)
 著者        Teeranaipong P, Ohashi J, Patarapotikul J, Kimura R, Nuchnoi P, Hananantachai H, Naka I, Putaporntip C, Jongwutiwes S, Tokunaga K
 タイトル      A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria.
 雑誌        J Infect Dis 198:1880-91 (2008)
 DOI:<a href=""https://doi.org/10.1086/593338"">10.1086/593338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12421634"">12421634</a> (FCGR2A)
 著者        Omi K, Ohashi J, Patarapotikul J, Hananantachai H, Naka I, Looareesuwan S, Tokunaga K
 タイトル      Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria.
 雑誌        Parasitol Int 51:361-6 (2002)
 DOI:<a href=""https://doi.org/10.1016/s1383-5769(02)00040-5"">10.1016/s1383-5769(02)00040-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17435165"">17435165</a> (FCGR2B)
 著者        Clatworthy MR, Willcocks L, Urban B, Langhorne J, Williams TN, Peshu N, Watkins NA, Floto RA, Smith KG
 タイトル      Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria.
 雑誌        Proc Natl Acad Sci U S A 104:7169-74 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0608889104"">10.1073/pnas.0608889104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13682585"">13682585</a> (G6PD)
 著者        ALLISON AC, CLYDE DF
 タイトル      Malaria in African children with deficient erythrocyte glucose-6-phosphate dehydrogenase.
 雑誌        Br Med J 1:1346-9 (1961)
 DOI:<a href=""https://doi.org/10.1136/bmj.1.5236.1346"">10.1136/bmj.1.5236.1346</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26416757"">26416757</a> (GYPA <a href=""https://pubmed.ncbi.nlm.nih.gov/GYPB"">GYPB</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GYPC)"">GYPC)</a>
 著者        Band G, Rockett KA, Spencer CC, Kwiatkowski DP
 タイトル      A novel locus of resistance to severe malaria in a region of ancient balancing selection.
 雑誌        Nature 526:253-7 (2015)
 DOI:<a href=""https://doi.org/10.1038/nature15390"">10.1038/nature15390</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11713529"">11713529</a> (HBB)
 著者        Modiano D, Luoni G, Sirima BS, Simpore J, Verra F, Konate A, Rastrelli E, Olivieri A, Calissano C, Paganotti GM, D'Urbano L, Sanou I, Sawadogo A, Modiano G, Coluzzi M
 タイトル      Haemoglobin C protects against clinical Plasmodium falciparum malaria.
 雑誌        Nature 414:305-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/35104556"">10.1038/35104556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9259284"">9259284</a> (ICAM1)
 著者        Fernandez-Reyes D, Craig AG, Kyes SA, Peshu N, Snow RW, Berendt AR, Marsh K, Newbold CI
 タイトル      A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya.
 雑誌        Hum Mol Genet 6:1357-60 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.8.1357"">10.1093/hmg/6.8.1357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9457101"">9457101</a> (NOS2)
 著者        Kun JF, Mordmuller B, Lell B, Lehman LG, Luckner D, Kremsner PG
 タイトル      Polymorphism in promoter region of inducible nitric oxide synthase gene and protection against malaria.
 雑誌        Lancet 351:265-6 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(05)78273-8"">10.1016/S0140-6736(05)78273-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10403343"">10403343</a> (SLC4A1)
 著者        Allen SJ, O'Donnell A, Alexander ND, Mgone CS, Peto TE, Clegg JB, Alpers MP, Weatherall DJ
 タイトル      Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3.
 雑誌        Am J Trop Med Hyg 60:1056-60 (1999)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.1999.60.1056"">10.4269/ajtmh.1999.60.1056</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17322885"">17322885</a> (TIRAP)
 著者        Khor CC, Chapman SJ, Vannberg FO, Dunne A, Murphy C, Ling EY, Frodsham AJ, Walley AJ, Kyrieleis O, Khan A, Aucan C, Segal S, Moore CE, Knox K, Campbell SJ, Lienhardt C, Scott A, Aaby P, Sow OY, Grignani RT, Sillah J, Sirugo G, Peshu N, Williams TN, Maitland K, Davies RJ, Kwiatkowski DP, Day NP, Yala D, Crook DW, Marsh K, Berkley JA, O'Neill LA, Hill AV
 タイトル      A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.
 雑誌        Nat Genet 39:523-8 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1976"">10.1038/ng1976</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7935762"">7935762</a> (TNF)
 著者        McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D
 タイトル      Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria.
 雑誌        Nature 371:508-10 (1994)
 DOI:<a href=""https://doi.org/10.1038/371508a0"">10.1038/371508a0</a>"
H00362,"ジアルジア症;
 ランブル鞭毛虫症",,,"Giardiasis is one of the most common parasite-induced diarrhea caused by the protozoan parasite Giardia lamblia. Infection is transmitted by ingestion of contaminated water or food, or by person-to-person contact, affecting children, pregnant women, the immunocompromised individuals, and people living with poor sanitation facilities.",感染症,,,Giardia lamblia [GN:gla],,,メトロニダゾール [DR:D00409],,"ICD-11: 1A31
 ICD-10: A07.1
 MeSH: D005873
 MedlinePlus: 000288","PMID:20701575
 著者        Escobedo AA, Almirall P, Robertson LJ, Franco RM, Hanevik K, Morch K, Cimerman S
 タイトル      Giardiasis: the ever-present threat of a neglected disease.
 雑誌        Infect Disord Drug Targets 10:329-48 (2010)
 DOI:10.2174/187152610793180821
 PMID:21857510
 著者        Tejman-Yarden N, Eckmann L
 タイトル      New approaches to the treatment of giardiasis.
 雑誌        Curr Opin Infect Dis 24:451-6 (2011)
 DOI:10.1097/QCO.0b013e32834ad401
 PMID:19285075
 著者        Geurden T, Vercruysse J, Claerebout E
 タイトル      Is Giardia a significant pathogen in production animals?
 雑誌        Exp Parasitol 124:98-106 (2010)
 DOI:10.1016/j.exppara.2009.03.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00362"">H00362</a>","ジアルジア症;
 ランブル鞭毛虫症","Giardiasis is one of the most common parasite-induced diarrhea caused by the protozoan parasite Giardia lamblia. Infection is transmitted by ingestion of contaminated water or food, or by person-to-person contact, affecting children, pregnant women, the immunocompromised individuals, and people living with poor sanitation facilities.",,,"Giardia lamblia [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:gla"">gla</a>]",,,"メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]",,"ICD-11: 1A31
 ICD-10: A07.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005873"">D005873</a>
 MedlinePlus: 000288","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20701575"">20701575</a>
 著者        Escobedo AA, Almirall P, Robertson LJ, Franco RM, Hanevik K, Morch K, Cimerman S
 タイトル      Giardiasis: the ever-present threat of a neglected disease.
 雑誌        Infect Disord Drug Targets 10:329-48 (2010)
 DOI:<a href=""https://doi.org/10.2174/187152610793180821"">10.2174/187152610793180821</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21857510"">21857510</a>
 著者        Tejman-Yarden N, Eckmann L
 タイトル      New approaches to the treatment of giardiasis.
 雑誌        Curr Opin Infect Dis 24:451-6 (2011)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32834ad401"">10.1097/QCO.0b013e32834ad401</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19285075"">19285075</a>
 著者        Geurden T, Vercruysse J, Claerebout E
 タイトル      Is Giardia a significant pathogen in production animals?
 雑誌        Exp Parasitol 124:98-106 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.exppara.2009.03.001"">10.1016/j.exppara.2009.03.001</a>"
H00363,"カンジダ症
 下位グループ    慢性皮膚粘膜カンジダ症 [DS:H01109]
 モニリア症",,,"Candidiasis is a fungal infection with Candida species, predominantly with Candida albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing bloodstream infections. Recently, various non-C. albicans species have emerged as infecting agents. In patients with impaired IL-17 immunity, recurrent or persistent infections are observed (chronic mucocutaneous candidiasis disease).",感染症,,,"Candida albicans [GN:cal]
 Candida dubliniensis [GN:cdu]
 Candida tropicalis [GN:ctp]
 Candida glabrata [GN:cgr]
 Meyerozyma guilliermondii [GN:pgu]
 Clavispora lusitaniae [GN:clu clus]
 Candida auris [GN:caur]",,,"ミコナゾール硝酸塩 [DR:D00882]
 クロトリマゾール [DR:D00282]
 イソコナゾール硝酸塩 [DR:D01480]
 オキシコナゾール硝酸塩 [DR:D00885]
 ケトコナゾール [DR:D00351]
 スルコナゾール硝酸塩 [DR:D00886]
 ビホナゾール [DR:D01775]
 ルリコナゾール [DR:D01980]
 ラノコナゾール [DR:D01092]
 ネチコナゾール塩酸塩 [DR:D01620]
 テルビナフィン塩酸塩 [DR:D02219]
 アモロルフィン塩酸塩 [DR:D01720]
 アムホテリシンB [DR:D00203]
 ボリコナゾール [DR:D00578]
 カスポファンギン酢酸塩 [DR:D02501]
 ミカファンギンナトリウム [DR:D02465]
 ミカファンギンナトリウム水和物 [DR:D11010]
 ミコナゾール [DR:D00416]
 フルコナゾール [DR:D00322]
 ホスフルコナゾール [DR:D01429]
 フルシトシン [DR:D00323]
 イトラコナゾール [DR:D00350]",,"ICD-11: 1F23
 ICD-10: B37
 MeSH: D002177","著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:21486733
 著者        Rodloff C, Koch D, Schaumann R
 タイトル      Epidemiology and antifungal resistance in invasive candidiasis.
 雑誌        Eur J Med Res 16:187-95 (2011)
 DOI:10.1186/2047-783X-16-4-187
 PMID:18279532
 著者        Mean M, Marchetti O, Calandra T
 タイトル      Bench-to-bedside review: Candida infections in the intensive care unit.
 雑誌        Crit Care 12:204 (2008)
 DOI:10.1186/cc6212
 PMID:21350122
 著者        Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL
 タイトル      Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
 雑誌        Science 332:65-8 (2011)
 DOI:10.1126/science.1200439
 PMID:21727188
 著者        Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL
 タイトル      Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 208:1635-48 (2011)
 DOI:10.1084/jem.20110958","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00363"">H00363</a>","カンジダ症
 下位グループ    慢性皮膚粘膜カンジダ症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01109"">H01109</a>]
 モニリア症","Candidiasis is a fungal infection with Candida species, predominantly with Candida albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing bloodstream infections. Recently, various non-C. albicans species have emerged as infecting agents. In patients with impaired IL-17 immunity, recurrent or persistent infections are observed (chronic mucocutaneous candidiasis disease).",,,"Candida albicans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cal"">cal</a>]
 Candida dubliniensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cdu"">cdu</a>]
 Candida tropicalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ctp"">ctp</a>]
 Candida glabrata [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cgr"">cgr</a>]
 Meyerozyma guilliermondii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pgu"">pgu</a>]
 Clavispora lusitaniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:clu"">clu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:clus"">clus</a>]
 Candida auris [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:caur"">caur</a>]",,,"ミコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00882"">D00882</a>]
 クロトリマゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00282"">D00282</a>]
 イソコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01480"">D01480</a>]
 オキシコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00885"">D00885</a>]
 ケトコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00351"">D00351</a>]
 スルコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00886"">D00886</a>]
 ビホナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01775"">D01775</a>]
 ルリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01980"">D01980</a>]
 ラノコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01092"">D01092</a>]
 ネチコナゾール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01620"">D01620</a>]
 テルビナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02219"">D02219</a>]
 アモロルフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01720"">D01720</a>]
 アムホテリシンB [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00203"">D00203</a>]
 ボリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00578"">D00578</a>]
 カスポファンギン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02501"">D02501</a>]
 ミカファンギンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02465"">D02465</a>]
 ミカファンギンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11010"">D11010</a>]
 ミコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00416"">D00416</a>]
 フルコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00322"">D00322</a>]
 ホスフルコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01429"">D01429</a>]
 フルシトシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00323"">D00323</a>]
 イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F23
 ICD-10: B37
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002177"">D002177</a>","著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21486733"">21486733</a>
 著者        Rodloff C, Koch D, Schaumann R
 タイトル      Epidemiology and antifungal resistance in invasive candidiasis.
 雑誌        Eur J Med Res 16:187-95 (2011)
 DOI:<a href=""https://doi.org/10.1186/2047-783X-16-4-187"">10.1186/2047-783X-16-4-187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18279532"">18279532</a>
 著者        Mean M, Marchetti O, Calandra T
 タイトル      Bench-to-bedside review: Candida infections in the intensive care unit.
 雑誌        Crit Care 12:204 (2008)
 DOI:<a href=""https://doi.org/10.1186/cc6212"">10.1186/cc6212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21350122"">21350122</a>
 著者        Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL
 タイトル      Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
 雑誌        Science 332:65-8 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1200439"">10.1126/science.1200439</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21727188"">21727188</a>
 著者        Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL
 タイトル      Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 208:1635-48 (2011)
 DOI:<a href=""https://doi.org/10.1084/jem.20110958"">10.1084/jem.20110958</a>"
H00364,クリプトコッカス症,,,"Cryptococcus is a pathogenic yeast that causes opportunistic infection, especially in the immunocompromised patient. It mainly infects the central nervous system and causes meningitis. Cryptococcal lung disease is also an important clinical outcome, leading to severe pneumonia with respiratory failure.",感染症,,,"Cryptococcus neoformans [GN:cne cnb cng]
 Cryptococcus gattii [GN:cgi]",,,"ボリコナゾール [DR:D00578]
 フルコナゾール [DR:D00322]
 ホスフルコナゾール [DR:D01429]
 フルシトシン [DR:D00323]",,"ICD-11: 1F27
 ICD-10: B45
 MeSH: D003453
 MedlinePlus: 001328","PMID:22424297
 著者        Desalermos A, Kourkoumpetis TK, Mylonakis E
 タイトル      Update on the epidemiology and management of cryptococcal meningitis.
 雑誌        Expert Opin Pharmacother 13:783-9 (2012)
 DOI:10.1517/14656566.2012.658773
 PMID:19352182
 著者        Shirley RM, Baddley JW
 タイトル      Cryptococcal lung disease.
 雑誌        Curr Opin Pulm Med 15:254-60 (2009)
 DOI:10.1097/MCP.0b013e328329268d","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00364"">H00364</a>",クリプトコッカス症,"Cryptococcus is a pathogenic yeast that causes opportunistic infection, especially in the immunocompromised patient. It mainly infects the central nervous system and causes meningitis. Cryptococcal lung disease is also an important clinical outcome, leading to severe pneumonia with respiratory failure.",,,"Cryptococcus neoformans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cne"">cne</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cnb"">cnb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cng"">cng</a>]
 Cryptococcus gattii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cgi"">cgi</a>]",,,"ボリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00578"">D00578</a>]
 フルコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00322"">D00322</a>]
 ホスフルコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01429"">D01429</a>]
 フルシトシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00323"">D00323</a>]",,"ICD-11: 1F27
 ICD-10: B45
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003453"">D003453</a>
 MedlinePlus: 001328","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22424297"">22424297</a>
 著者        Desalermos A, Kourkoumpetis TK, Mylonakis E
 タイトル      Update on the epidemiology and management of cryptococcal meningitis.
 雑誌        Expert Opin Pharmacother 13:783-9 (2012)
 DOI:<a href=""https://doi.org/10.1517/14656566.2012.658773"">10.1517/14656566.2012.658773</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19352182"">19352182</a>
 著者        Shirley RM, Baddley JW
 タイトル      Cryptococcal lung disease.
 雑誌        Curr Opin Pulm Med 15:254-60 (2009)
 DOI:<a href=""https://doi.org/10.1097/MCP.0b013e328329268d"">10.1097/MCP.0b013e328329268d</a>"
H00365,"単純ヘルペスウイルス感染症;
 HSV 感染症",,,"Herpes simplex virus infection is caused by Herpes simplex virus type 1 (HSV-1) and Herpes simplex virus type 2 (HSV-2), Simplex viruses in the order Herpesvirales of dsDNA viruses. Humans are the only natural host and reservoir for the HSV virus. HSV are human neurotropic viruses that establish latent infection in dorsal root ganglia (DRG) for the entire life of the host. HSV infects the human host via mucosal surfaces or damaged skin, and most primary infections are asymptomatic. HSV-1 is mainly associated with orofacial lesions, yet it is also the cause of infectious blindness and viral encephalitis in adults. HSV-2 is mainly associated with genital lesions and neonatal encephalitis.",感染症,"nt06114  PI3K signaling (viruses)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06129  MHC presentation (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06133  RLR signaling (viruses)
 nt06134  CGAS-STING signaling (viruses and bacteria)
 nt06136  Complement activation (viruses)
 nt06137  OAS/RNase L pathway (viruses)
 nt06138  PKR-eIF2alpha signaling (viruses)
 nt06140  Transcription (viruses)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06168  Herpes simplex virus 1 (HSV-1)",,"Human herpesvirus 1 [GN:T40073]
 Human herpesvirus 2 [GN:T40074]",,,"アシクロビル [DR:D00222]
 ポリビニルアルコール・ヨウ素 [DR:D07709]
 ビダラビン [DR:D06298]
 ファムシクロビル [DR:D00317]
 バラシクロビル塩酸塩 [DR:D00398]
 バラシクロビル塩酸塩水和物 [DR:D10518]",,"ICD-11: 1A94 1F00
 ICD-10: B00 A60 O26.4 P35.2
 MeSH: D006561
 MedlinePlus: 001324","PMID:24142852
 著者        Steiner I, Benninger F
 タイトル      Update on herpes virus infections of the nervous system.
 雑誌        Curr Neurol Neurosci Rep 13:414 (2013)
 DOI:10.1007/s11910-013-0414-8
 PMID:24906668
 著者        Hill GM, Ku ES, Dwarakanathan S
 タイトル      Herpes simplex keratitis.
 雑誌        Dis Mon 60:239-46 (2014)
 DOI:10.1016/j.disamonth.2014.03.003
 PMID:31114761
 著者        Tognarelli EI, Palomino TF, Corrales N, Bueno SM, Kalergis AM, Gonzalez PA
 タイトル      Herpes Simplex Virus Evasion of Early Host Antiviral Responses.
 雑誌        Front Cell Infect Microbiol 9:127 (2019)
 DOI:10.3389/fcimb.2019.00127
 PMID:21970493
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:10.5858/arpa.2010-0156-RS","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00365"">H00365</a>","単純ヘルペスウイルス感染症;
 HSV 感染症","Herpes simplex virus infection is caused by Herpes simplex virus type 1 (HSV-1) and Herpes simplex virus type 2 (HSV-2), Simplex viruses in the order Herpesvirales of dsDNA viruses. Humans are the only natural host and reservoir for the HSV virus. HSV are human neurotropic viruses that establish latent infection in dorsal root ganglia (DRG) for the entire life of the host. HSV infects the human host via mucosal surfaces or damaged skin, and most primary infections are asymptomatic. HSV-1 is mainly associated with orofacial lesions, yet it is also the cause of infectious blindness and viral encephalitis in adults. HSV-2 is mainly associated with genital lesions and neonatal encephalitis.","<a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06134"">nt06134</a>  CGAS-STING signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06136"">nt06136</a>  Complement activation (viruses)
 <a href=""https://www.kegg.jp/network/nt06137"">nt06137</a>  OAS/RNase L pathway (viruses)
 <a href=""https://www.kegg.jp/network/nt06138"">nt06138</a>  PKR-eIF2alpha signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06168"">nt06168</a>  Herpes simplex virus 1 (HSV-1)",,"Human herpesvirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40073"">T40073</a>]
 Human herpesvirus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40074"">T40074</a>]",,,"アシクロビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00222"">D00222</a>]
 ポリビニルアルコール・ヨウ素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07709"">D07709</a>]
 ビダラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06298"">D06298</a>]
 ファムシクロビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00317"">D00317</a>]
 バラシクロビル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00398"">D00398</a>]
 バラシクロビル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10518"">D10518</a>]",,"ICD-11: 1A94 1F00
 ICD-10: B00 A60 O26.4 P35.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006561"">D006561</a>
 MedlinePlus: 001324","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24142852"">24142852</a>
 著者        Steiner I, Benninger F
 タイトル      Update on herpes virus infections of the nervous system.
 雑誌        Curr Neurol Neurosci Rep 13:414 (2013)
 DOI:<a href=""https://doi.org/10.1007/s11910-013-0414-8"">10.1007/s11910-013-0414-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24906668"">24906668</a>
 著者        Hill GM, Ku ES, Dwarakanathan S
 タイトル      Herpes simplex keratitis.
 雑誌        Dis Mon 60:239-46 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2014.03.003"">10.1016/j.disamonth.2014.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31114761"">31114761</a>
 著者        Tognarelli EI, Palomino TF, Corrales N, Bueno SM, Kalergis AM, Gonzalez PA
 タイトル      Herpes Simplex Virus Evasion of Early Host Antiviral Responses.
 雑誌        Front Cell Infect Microbiol 9:127 (2019)
 DOI:<a href=""https://doi.org/10.3389/fcimb.2019.00127"">10.3389/fcimb.2019.00127</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21970493"">21970493</a>
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:<a href=""https://doi.org/10.5858/arpa.2010-0156-RS"">10.5858/arpa.2010-0156-RS</a>"
H00366,"水痘;
 帯状疱疹",,,"Varicella-zoster virus (VZV), also known as human herpes virus 3 (HHV-3), is a human pathogen of the Herpesviridae family that has a double-stranded linear DNA genome. Primary infection usually causes varicella (chickenpox) in children, after which the virus establishes latency in sensory neurons. Subsequent reactivation causes herpes zoster (shingles) in adults.",感染症,,,Human herpesvirus 3 [GN:T40078],,,"ナプロキセン [DR:D00118]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 アシクロビル [DR:D00222]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 イブプロフェンピコノール [DR:D01122]
 スプロフェン [DR:D00452]
 ウフェナマート [DR:D01823]
 ベンダザック [DR:D01594]
 ビダラビン [DR:D06298]
 ファムシクロビル [DR:D00317]
 バラシクロビル塩酸塩 [DR:D00398]
 バラシクロビル塩酸塩水和物 [DR:D10518]
 アメナメビル [DR:D10564]
 乾燥弱毒生水痘ワクチン [DR:D08777]
 乾燥組換え帯状疱疹ワクチン [DR:D11562]",,"ICD-11: 1E90 1E91
 ICD-10: B01 B02
 MeSH: D002644 D006562
 MedlinePlus: 001592","PMID:21970493
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:10.5858/arpa.2010-0156-RS
 PMID:16098235
 著者        Quinlivan M, Breuer J
 タイトル      Molecular and therapeutic aspects of varicella-zoster virus infection.
 雑誌        Expert Rev Mol Med 7:1-24 (2005)
 DOI:10.1017/S146239940500966X
 PMID:9514102
 著者        Harper DR, Gilbert RL, Jeffries DJ
 タイトル      Molecular biology of varicella-zoster virus. A review prepared for the UK Advisory Group on Chickenpox.
 雑誌        J Infect 36 Suppl 1:1-10 (1998)
 DOI:10.1016/S0163-4453(98)80149-7
 PMID:21342215
 著者        Gilden D, Mahalingam R, Nagel MA, Pugazhenthi S, Cohrs RJ
 タイトル      Review: The neurobiology of varicella zoster virus infection.
 雑誌        Neuropathol Appl Neurobiol 37:441-63 (2011)
 DOI:10.1111/j.1365-2990.2011.01167.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00366"">H00366</a>","水痘;
 帯状疱疹","Varicella-zoster virus (VZV), also known as human herpes virus 3 (HHV-3), is a human pathogen of the Herpesviridae family that has a double-stranded linear DNA genome. Primary infection usually causes varicella (chickenpox) in children, after which the virus establishes latency in sensory neurons. Subsequent reactivation causes herpes zoster (shingles) in adults.",,,"Human herpesvirus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40078"">T40078</a>]",,,"ナプロキセン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00118"">D00118</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 アシクロビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00222"">D00222</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 イブプロフェンピコノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01122"">D01122</a>]
 スプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00452"">D00452</a>]
 ウフェナマート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01823"">D01823</a>]
 ベンダザック [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01594"">D01594</a>]
 ビダラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06298"">D06298</a>]
 ファムシクロビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00317"">D00317</a>]
 バラシクロビル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00398"">D00398</a>]
 バラシクロビル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10518"">D10518</a>]
 アメナメビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10564"">D10564</a>]
 乾燥弱毒生水痘ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08777"">D08777</a>]
 乾燥組換え帯状疱疹ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11562"">D11562</a>]",,"ICD-11: 1E90 1E91
 ICD-10: B01 B02
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002644"">D002644</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006562"">D006562</a>
 MedlinePlus: 001592","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21970493"">21970493</a>
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:<a href=""https://doi.org/10.5858/arpa.2010-0156-RS"">10.5858/arpa.2010-0156-RS</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16098235"">16098235</a>
 著者        Quinlivan M, Breuer J
 タイトル      Molecular and therapeutic aspects of varicella-zoster virus infection.
 雑誌        Expert Rev Mol Med 7:1-24 (2005)
 DOI:<a href=""https://doi.org/10.1017/S146239940500966X"">10.1017/S146239940500966X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9514102"">9514102</a>
 著者        Harper DR, Gilbert RL, Jeffries DJ
 タイトル      Molecular biology of varicella-zoster virus. A review prepared for the UK Advisory Group on Chickenpox.
 雑誌        J Infect 36 Suppl 1:1-10 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0163-4453(98)80149-7"">10.1016/S0163-4453(98)80149-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21342215"">21342215</a>
 著者        Gilden D, Mahalingam R, Nagel MA, Pugazhenthi S, Cohrs RJ
 タイトル      Review: The neurobiology of varicella zoster virus infection.
 雑誌        Neuropathol Appl Neurobiol 37:441-63 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2990.2011.01167.x"">10.1111/j.1365-2990.2011.01167.x</a>"
H00367,伝染性単核症,,,"Epstein-Barr virus (EBV) is a common gammaherpesvirus whose initial infection manifests as infectious mononucleosis that is defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal carcinoma, Hodgkin lymphoma, and post-transplant B cell lymphomas.",感染症,nt06165  Epstein-Barr virus (EBV),,Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079],,,,,"ICD-11: 1D81
 ICD-10: B27.0
 MeSH: D020031 D002051 D007244
 MedlinePlus: 000591","PMID:8380053
 著者        Straus SE, Cohen JI, Tosato G, Meier J
 タイトル      NIH conference. Epstein-Barr virus infections: biology, pathogenesis, and management.
 雑誌        Ann Intern Med 118:45-58 (1993)
 DOI:10.7326/0003-4819-118-1-199301010-00009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00367"">H00367</a>",伝染性単核症,"Epstein-Barr virus (EBV) is a common gammaherpesvirus whose initial infection manifests as infectious mononucleosis that is defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal carcinoma, Hodgkin lymphoma, and post-transplant B cell lymphomas.","<a href=""https://www.kegg.jp/network/nt06165"">nt06165</a>  Epstein-Barr virus (EBV)",,"Human herpesvirus 4 (Epstein-Barr virus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40079"">T40079</a>]",,,,,"ICD-11: 1D81
 ICD-10: B27.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020031"">D020031</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002051"">D002051</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007244"">D007244</a>
 MedlinePlus: 000591","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8380053"">8380053</a>
 著者        Straus SE, Cohen JI, Tosato G, Meier J
 タイトル      NIH conference. Epstein-Barr virus infections: biology, pathogenesis, and management.
 雑誌        Ann Intern Med 118:45-58 (1993)
 DOI:<a href=""https://doi.org/10.7326/0003-4819-118-1-199301010-00009"">10.7326/0003-4819-118-1-199301010-00009</a>"
H00368,サイトメガロウイルス感染症,,,Cytomegalovirus (CMV) is a double-stranded DNA virus of the Herpesviridae family acquired by late childhood in the majority of individuals. Primary infection is nonspecific but after that the virus becomes latent in multiple organs and can later be reactivated. CMV is an important and common cause of mortality and morbidity in immunocompromised patients such as those with HIV/AIDS or transplant recipients on immunosuppressive therapy.,感染症,"nt06110  MAPK signaling (viruses and bacteria)
 nt06114  PI3K signaling (viruses)
 nt06119  JAK-STAT signaling (viruses)
 nt06123  TNF signaling (viruses and bacteria)
 nt06124  Chemokine signaling (viruses)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06134  CGAS-STING signaling (viruses and bacteria)
 nt06135  Cytoskeletal regulation (viruses and bacteria)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06167  Human cytomegalovirus (HCMV)",,Human herpesvirus 5 (Human cytomegalovirus) [GN:T40080],,,"ガンシクロビル [DR:D00333]
 バルガンシクロビル塩酸塩 [DR:D03256]
 ホスカルネットナトリウム水和物 [DR:D02267]
 レテルモビル [DR:D10801]",,"ICD-11: 1D82
 ICD-10: B20.2 B25 B27.1 P35.1
 MeSH: D003586","PMID:21970493 (env_factor, marker)
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:10.5858/arpa.2010-0156-RS
 PMID:21748845
 著者        Fishman JA
 タイトル      Infections in immunocompromised hosts and organ transplant recipients: essentials.
 雑誌        Liver Transpl 17 Suppl 3:S34-7 (2011)
 DOI:10.1002/lt.22378
 PMID:21056604
 著者        Jackson SE, Mason GM, Wills MR
 タイトル      Human cytomegalovirus immunity and immune evasion.
 雑誌        Virus Res 157:151-60 (2011)
 DOI:10.1016/j.virusres.2010.10.031
 PMID:21841300 (drug)
 著者        Jain M, Duggal S, Chugh TD
 タイトル      Cytomegalovirus infection in non-immunosuppressed critically ill patients.
 雑誌        J Infect Dev Ctries 5:571-9 (2011)
 DOI:10.3855/jidc.1487
 PMID:21827433 (marker)
 著者        Ross SA, Novak Z, Pati S, Boppana SB
 タイトル      Overview of the diagnosis of cytomegalovirus infection.
 雑誌        Infect Disord Drug Targets 11:466-74 (2011)
 DOI:10.2174/187152611797636703","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00368"">H00368</a>",サイトメガロウイルス感染症,Cytomegalovirus (CMV) is a double-stranded DNA virus of the Herpesviridae family acquired by late childhood in the majority of individuals. Primary infection is nonspecific but after that the virus becomes latent in multiple organs and can later be reactivated. CMV is an important and common cause of mortality and morbidity in immunocompromised patients such as those with HIV/AIDS or transplant recipients on immunosuppressive therapy.,"<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06119"">nt06119</a>  JAK-STAT signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06124"">nt06124</a>  Chemokine signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06134"">nt06134</a>  CGAS-STING signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06135"">nt06135</a>  Cytoskeletal regulation (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06167"">nt06167</a>  Human cytomegalovirus (HCMV)",,"Human herpesvirus 5 (Human cytomegalovirus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40080"">T40080</a>]",,,"ガンシクロビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00333"">D00333</a>]
 バルガンシクロビル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03256"">D03256</a>]
 ホスカルネットナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02267"">D02267</a>]
 レテルモビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10801"">D10801</a>]",,"ICD-11: 1D82
 ICD-10: B20.2 B25 B27.1 P35.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003586"">D003586</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21970493"">21970493</a> (env_factor, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Chisholm C, Lopez L
 タイトル      Cutaneous infections caused by Herpesviridae: a review.
 雑誌        Arch Pathol Lab Med 135:1357-62 (2011)
 DOI:<a href=""https://doi.org/10.5858/arpa.2010-0156-RS"">10.5858/arpa.2010-0156-RS</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21748845"">21748845</a>
 著者        Fishman JA
 タイトル      Infections in immunocompromised hosts and organ transplant recipients: essentials.
 雑誌        Liver Transpl 17 Suppl 3:S34-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/lt.22378"">10.1002/lt.22378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21056604"">21056604</a>
 著者        Jackson SE, Mason GM, Wills MR
 タイトル      Human cytomegalovirus immunity and immune evasion.
 雑誌        Virus Res 157:151-60 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.virusres.2010.10.031"">10.1016/j.virusres.2010.10.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21841300"">21841300</a> (drug)
 著者        Jain M, Duggal S, Chugh TD
 タイトル      Cytomegalovirus infection in non-immunosuppressed critically ill patients.
 雑誌        J Infect Dev Ctries 5:571-9 (2011)
 DOI:<a href=""https://doi.org/10.3855/jidc.1487"">10.3855/jidc.1487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21827433"">21827433</a> (marker)
 著者        Ross SA, Novak Z, Pati S, Boppana SB
 タイトル      Overview of the diagnosis of cytomegalovirus infection.
 雑誌        Infect Disord Drug Targets 11:466-74 (2011)
 DOI:<a href=""https://doi.org/10.2174/187152611797636703"">10.2174/187152611797636703</a>"
H00369,"突発性発疹;
 ばら疹;
 ロジオラ",,,"Human herpesvirus 6 (HHV-6) and human herpesvirus 7 (HHV-7) are human pathogens of members of beta-herpesvirus. Primary infection with HHV-6 and HHV-7 occurs in early childhood and causes short febrile diseases, sometimes associated with cutaneous rash (exanthem subitum). HHV-6 and HHV-7 establish latency in the host following primary infection and may reactivate.",感染症,nt06150  Cytokine-cytokine receptor interaction (viruses),,"Human herpesvirus 6B [GN:T40075]
 Human herpesvirus 7 [GN:T40076]",,,,,"ICD-11: 1F01
 ICD-10: B08.2
 MeSH: D019349 D005077
 MedlinePlus: 000968","PMID:21120721
 著者        Prober CG
 タイトル      Human herpesvirus 6.
 雑誌        Adv Exp Med Biol 697:87-90 (2011)
 DOI:10.1007/978-1-4419-7185-2_7
 PMID:17802896
 著者        Caselli E, Di Luca D
 タイトル      Molecular biology and clinical associations of Roseoloviruses human herpesvirus 6 and human herpesvirus 7.
 雑誌        New Microbiol 30:173-87 (2007)
 PMID:10698157
 著者        Kosuge H
 タイトル      HHV-6, 7 and their related diseases.
 雑誌        J Dermatol Sci 22:205-12 (2000)
 DOI:10.1016/S0923-1811(99)00086-9
 PMID:11924827
 著者        Blauvelt A
 タイトル      Skin diseases associated with human herpesvirus 6, 7, and 8 infection.
 雑誌        J Investig Dermatol Symp Proc 6:197-202 (2001)
 DOI:10.1046/j.0022-202x.2001.00040.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00369"">H00369</a>","突発性発疹;
 ばら疹;
 ロジオラ","Human herpesvirus 6 (HHV-6) and human herpesvirus 7 (HHV-7) are human pathogens of members of beta-herpesvirus. Primary infection with HHV-6 and HHV-7 occurs in early childhood and causes short febrile diseases, sometimes associated with cutaneous rash (exanthem subitum). HHV-6 and HHV-7 establish latency in the host following primary infection and may reactivate.","<a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)",,"Human herpesvirus 6B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40075"">T40075</a>]
 Human herpesvirus 7 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40076"">T40076</a>]",,,,,"ICD-11: 1F01
 ICD-10: B08.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019349"">D019349</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005077"">D005077</a>
 MedlinePlus: 000968","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21120721"">21120721</a>
 著者        Prober CG
 タイトル      Human herpesvirus 6.
 雑誌        Adv Exp Med Biol 697:87-90 (2011)
 DOI:<a href=""https://doi.org/10.1007/978-1-4419-7185-2_7"">10.1007/978-1-4419-7185-2_7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17802896"">17802896</a>
 著者        Caselli E, Di Luca D
 タイトル      Molecular biology and clinical associations of Roseoloviruses human herpesvirus 6 and human herpesvirus 7.
 雑誌        New Microbiol 30:173-87 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10698157"">10698157</a>
 著者        Kosuge H
 タイトル      HHV-6, 7 and their related diseases.
 雑誌        J Dermatol Sci 22:205-12 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0923-1811(99)00086-9"">10.1016/S0923-1811(99)00086-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11924827"">11924827</a>
 著者        Blauvelt A
 タイトル      Skin diseases associated with human herpesvirus 6, 7, and 8 infection.
 雑誌        J Investig Dermatol Symp Proc 6:197-202 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.0022-202x.2001.00040.x"">10.1046/j.0022-202x.2001.00040.x</a>"
H00370,進行性多巣性白質脳症,,,Progressive multifocal leukoencephalopathy (PML) is a fatal neurological disorder characterized by destruction of oligodendrocytes by the JC polyomavirus that occurs in immunosuppressed individuals such as patients with AIDS. Patients with PML show white matter lesions on head computed tomography scan or magnetic resonance imaging.,感染症,,,JC polyomavirus [GN:T40072],,,,"Combination therapy
 AIDS-associated: Highly active antiretroviral therapy (HAART) + Cidofovir
 Immunodepressed patient: Discontinuation of immunosuppressive agent + Cidofovir [DR:D00273]","ICD-11: 8A45.02
 ICD-10: A81.2
 MeSH: D007968
 MedlinePlus: 000674","PMID:15167073
 著者        Koralnik IJ
 タイトル      New insights into progressive multifocal leukoencephalopathy.
 雑誌        Curr Opin Neurol 17:365-70 (2004)
 DOI:10.1097/00019052-200406000-00019
 PMID:7551117
 著者        Major EO, Ault GS
 タイトル      Progressive multifocal leukoencephalopathy: clinical and laboratory observations on a viral induced demyelinating disease in the immunodeficient patient.
 雑誌        Curr Opin Neurol 8:184-90 (1995)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00370"">H00370</a>",進行性多巣性白質脳症,Progressive multifocal leukoencephalopathy (PML) is a fatal neurological disorder characterized by destruction of oligodendrocytes by the JC polyomavirus that occurs in immunosuppressed individuals such as patients with AIDS. Patients with PML show white matter lesions on head computed tomography scan or magnetic resonance imaging.,,,"JC polyomavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40072"">T40072</a>]",,,,"Combination therapy
 AIDS-associated: Highly active antiretroviral therapy (HAART) + Cidofovir
 Immunodepressed patient: Discontinuation of immunosuppressive agent + Cidofovir [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00273"">D00273</a>]","ICD-11: 8A45.02
 ICD-10: A81.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007968"">D007968</a>
 MedlinePlus: 000674","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15167073"">15167073</a>
 著者        Koralnik IJ
 タイトル      New insights into progressive multifocal leukoencephalopathy.
 雑誌        Curr Opin Neurol 17:365-70 (2004)
 DOI:<a href=""https://doi.org/10.1097/00019052-200406000-00019"">10.1097/00019052-200406000-00019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7551117"">7551117</a>
 著者        Major EO, Ault GS
 タイトル      Progressive multifocal leukoencephalopathy: clinical and laboratory observations on a viral induced demyelinating disease in the immunodeficient patient.
 雑誌        Curr Opin Neurol 8:184-90 (1995)"
H00371,"アデノウイルス感染症
 下位グループ    ウイルス性結膜炎 [DS:H01320]",,,"Adenoviruses (Ads) are recognized as etiologic agents of the respiratory and gastrointestinal tracts, eye, and kidney. Ads are rarely associated with severe clinical symptoms in healthy individuals. In contrast, in the pediatric population, military recruits, and immunocompromised individuals, Ad infections often result in disseminated and potentially life-threatening disease. Ocular Ad infections are among the leading causes of viral conjunctivitis.",感染症,,,"Human mastadenovirus A [GN:T40337]
 Human mastadenovirus B [GN:T40100]
 Human mastadenovirus C [GN:T40338]
 Human mastadenovirus D [GN:T40102]
 Human mastadenovirus E [GN:T40101]
 Human mastadenovirus F [GN:T40339]",,,,,"ICD-11: 1D90
 ICD-10: B97.0
 MeSH: D000258","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:17446135
 著者        Hayashi S, Hogg JC
 タイトル      Adenovirus infections and lung disease.
 雑誌        Curr Opin Pharmacol 7:237-43 (2007)
 DOI:10.1016/j.coph.2006.11.014
 PMID:18655013
 著者        Lenaerts L, De Clercq E, Naesens L
 タイトル      Clinical features and treatment of adenovirus infections.
 雑誌        Rev Med Virol 18:357-74 (2008)
 DOI:10.1002/rmv.589","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00371"">H00371</a>","アデノウイルス感染症
 下位グループ    ウイルス性結膜炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01320"">H01320</a>]","Adenoviruses (Ads) are recognized as etiologic agents of the respiratory and gastrointestinal tracts, eye, and kidney. Ads are rarely associated with severe clinical symptoms in healthy individuals. In contrast, in the pediatric population, military recruits, and immunocompromised individuals, Ad infections often result in disseminated and potentially life-threatening disease. Ocular Ad infections are among the leading causes of viral conjunctivitis.",,,"Human mastadenovirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40337"">T40337</a>]
 Human mastadenovirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40100"">T40100</a>]
 Human mastadenovirus C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40338"">T40338</a>]
 Human mastadenovirus D [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40102"">T40102</a>]
 Human mastadenovirus E [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40101"">T40101</a>]
 Human mastadenovirus F [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40339"">T40339</a>]",,,,,"ICD-11: 1D90
 ICD-10: B97.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000258"">D000258</a>","著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17446135"">17446135</a>
 著者        Hayashi S, Hogg JC
 タイトル      Adenovirus infections and lung disease.
 雑誌        Curr Opin Pharmacol 7:237-43 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.coph.2006.11.014"">10.1016/j.coph.2006.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18655013"">18655013</a>
 著者        Lenaerts L, De Clercq E, Naesens L
 タイトル      Clinical features and treatment of adenovirus infections.
 雑誌        Rev Med Virol 18:357-74 (2008)
 DOI:<a href=""https://doi.org/10.1002/rmv.589"">10.1002/rmv.589</a>"
H00372,天然痘,,,"Smallpox is a contagious disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive vaccination campaigns.",感染症,nt06150  Cytokine-cytokine receptor interaction (viruses),,Variola virus [GN:T40082],,,乾燥細胞培養痘そうワクチン [DR:D06511],,"ICD-11: 1E70
 ICD-10: B03
 MeSH: D012899
 MedlinePlus: 001356","PMID:3319266
 著者        Jezek Z, Khodakevich LN, Wickett JF
 タイトル      Smallpox and its post-eradication surveillance.
 雑誌        Bull World Health Organ 65:425-34 (1987)
 PMID:9795781
 著者        Ellner PD
 タイトル      Smallpox: gone but not forgotten.
 雑誌        Infection 26:263-9 (1998)
 DOI:10.1007/bf02962244
 PMID:27726788
 著者        Theves C, Crubezy E, Biagini P
 タイトル      History of Smallpox and Its Spread in Human Populations.
 雑誌        Microbiol Spectr 4 (2016)
 DOI:10.1128/microbiolspec.PoH-0004-2014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00372"">H00372</a>",天然痘,"Smallpox is a contagious disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive vaccination campaigns.","<a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)",,"Variola virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40082"">T40082</a>]",,,"乾燥細胞培養痘そうワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06511"">D06511</a>]",,"ICD-11: 1E70
 ICD-10: B03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012899"">D012899</a>
 MedlinePlus: 001356","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3319266"">3319266</a>
 著者        Jezek Z, Khodakevich LN, Wickett JF
 タイトル      Smallpox and its post-eradication surveillance.
 雑誌        Bull World Health Organ 65:425-34 (1987)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9795781"">9795781</a>
 著者        Ellner PD
 タイトル      Smallpox: gone but not forgotten.
 雑誌        Infection 26:263-9 (1998)
 DOI:<a href=""https://doi.org/10.1007/bf02962244"">10.1007/bf02962244</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27726788"">27726788</a>
 著者        Theves C, Crubezy E, Biagini P
 タイトル      History of Smallpox and Its Spread in Human Populations.
 雑誌        Microbiol Spectr 4 (2016)
 DOI:<a href=""https://doi.org/10.1128/microbiolspec.PoH-0004-2014"">10.1128/microbiolspec.PoH-0004-2014</a>"
H00373,サル痘,,,"Human monkeypox is a rare viral zoonotic disease caused by Monkeypox virus of the genus Orthopoxvirus. It occurs mostly in the rain forests of central and western Africa. Human monkeypox has a clinical presentation similar to that of smallpox, including characteristic rash. Lymphadenopathy is not a common feature of smallpox and is therefore a key distinguishing feature of monkeypox. By contrast with smallpox, human monkeypox has low transmissibility between human beings.",感染症,,,Monkeypox virus [GN:T40083],,,,"Many animals are infected with monkeypox virus under natural conditions, including squirrels, non-human primates, and rats. However, the primary reservoir for human infection remains unknown.","ICD-11: 1E71
 ICD-10: B04
 MeSH: D045908","PMID:6304185 (description, comment. drug)
 著者        Jezek Z, Gromyko AI, Szczeniowski MV
 タイトル      Human monkeypox.
 雑誌        J Hyg Epidemiol Microbiol Immunol 27:13-28 (1983)
 PMID:16288402 (description, drug)
 著者        Nalca A, Rimoin AW, Bavari S, Whitehouse CA
 タイトル      Reemergence of monkeypox: prevalence, diagnostics, and countermeasures.
 雑誌        Clin Infect Dis 41:1765-71 (2005)
 DOI:10.1086/498155
 PMID:17661673
 著者        Parker S, Nuara A, Buller RM, Schultz DA
 タイトル      Human monkeypox: an emerging zoonotic disease.
 雑誌        Future Microbiol 2:17-34 (2007)
 DOI:10.2217/17460913.2.1.17","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00373"">H00373</a>",サル痘,"Human monkeypox is a rare viral zoonotic disease caused by Monkeypox virus of the genus Orthopoxvirus. It occurs mostly in the rain forests of central and western Africa. Human monkeypox has a clinical presentation similar to that of smallpox, including characteristic rash. Lymphadenopathy is not a common feature of smallpox and is therefore a key distinguishing feature of monkeypox. By contrast with smallpox, human monkeypox has low transmissibility between human beings.",,,"Monkeypox virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40083"">T40083</a>]",,,,"Many animals are infected with monkeypox virus under natural conditions, including squirrels, non-human primates, and rats. However, the primary reservoir for human infection remains unknown.","ICD-11: 1E71
 ICD-10: B04
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045908"">D045908</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6304185"">6304185</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/comment."">comment.</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Jezek Z, Gromyko AI, Szczeniowski MV
 タイトル      Human monkeypox.
 雑誌        J Hyg Epidemiol Microbiol Immunol 27:13-28 (1983)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16288402"">16288402</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Nalca A, Rimoin AW, Bavari S, Whitehouse CA
 タイトル      Reemergence of monkeypox: prevalence, diagnostics, and countermeasures.
 雑誌        Clin Infect Dis 41:1765-71 (2005)
 DOI:<a href=""https://doi.org/10.1086/498155"">10.1086/498155</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17661673"">17661673</a>
 著者        Parker S, Nuara A, Buller RM, Schultz DA
 タイトル      Human monkeypox: an emerging zoonotic disease.
 雑誌        Future Microbiol 2:17-34 (2007)
 DOI:<a href=""https://doi.org/10.2217/17460913.2.1.17"">10.2217/17460913.2.1.17</a>"
H00374,ウイルス性疣贅,,,"Human papillomaviruses (HPVs) are small DNA viruses of the papovavirus family that can be associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions reported to be HPV-associated are squamous papilloma, verruca vulgaris, warty lip lesions, and conjunctival papillomas.",感染症,,,"Alphapapillomavirus [GN:T40087 T40088 T40097 T40098 T40109]
 Betapapillomavirus [GN:T40089 T40111]
 Gammapapillomavirus [GN:T40110 T40113 T40114]
 Mupapillomavirus [GN:T40108 T40115]",,,ヨクイニン [DR:D06798],,"ICD-10: B07
 MeSH: D014860
 MedlinePlus: 000885 000886","PMID:19374195 (pathogen)
 著者        Kiyofumi E
 タイトル      [HPV-associated cutaneous lesions]
 雑誌        Uirusu 58:173-82 (2008)
 DOI:10.2222/jsv.58.173
 PMID:22131115
 著者        Cardoso JC, Calonje E
 タイトル      Cutaneous manifestations of human papillomaviruses: a review.
 雑誌        Acta Dermatovenerol Alp Panonica Adriat 20:145-54 (2011)
 PMID:17668552 (drug)
 著者        Fradet-Turcotte A, Archambault J
 タイトル      Recent advances in the search for antiviral agents against human papillomaviruses.
 雑誌        Antivir Ther 12:431-51 (2007)
 PMID:9675641 (drug)
 著者        Gross G
 タイトル      Therapy of human papillomavirus infection and associated epithelial tumors.
 雑誌        Intervirology 40:368-77 (1997)
 DOI:10.1159/000150569","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00374"">H00374</a>",ウイルス性疣贅,"Human papillomaviruses (HPVs) are small DNA viruses of the papovavirus family that can be associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions reported to be HPV-associated are squamous papilloma, verruca vulgaris, warty lip lesions, and conjunctival papillomas.",,,"Alphapapillomavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40088"">T40088</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40097"">T40097</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40098"">T40098</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40109"">T40109</a>]
 Betapapillomavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40089"">T40089</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40111"">T40111</a>]
 Gammapapillomavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40110"">T40110</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40113"">T40113</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40114"">T40114</a>]
 Mupapillomavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40108"">T40108</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40115"">T40115</a>]",,,"ヨクイニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06798"">D06798</a>]",,"ICD-10: B07
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014860"">D014860</a>
 MedlinePlus: 000885 000886","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19374195"">19374195</a> (pathogen)
 著者        Kiyofumi E
 タイトル      [HPV-associated cutaneous lesions]
 雑誌        Uirusu 58:173-82 (2008)
 DOI:<a href=""https://doi.org/10.2222/jsv.58.173"">10.2222/jsv.58.173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22131115"">22131115</a>
 著者        Cardoso JC, Calonje E
 タイトル      Cutaneous manifestations of human papillomaviruses: a review.
 雑誌        Acta Dermatovenerol Alp Panonica Adriat 20:145-54 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17668552"">17668552</a> (drug)
 著者        Fradet-Turcotte A, Archambault J
 タイトル      Recent advances in the search for antiviral agents against human papillomaviruses.
 雑誌        Antivir Ther 12:431-51 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9675641"">9675641</a> (drug)
 著者        Gross G
 タイトル      Therapy of human papillomavirus infection and associated epithelial tumors.
 雑誌        Intervirology 40:368-77 (1997)
 DOI:<a href=""https://doi.org/10.1159/000150569"">10.1159/000150569</a>"
H00375,"SBCAD 欠損症;
 メチル分枝鎖アシルCoA デヒドロゲナーゼ欠損症",,,"Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA as part of the degradation of isoleucine in mitochondria.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",ACADSB [HSA:36] [KO:K09478],,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C566487
 OMIM: 610006","PMID:11013134
 著者        Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F
 タイトル      Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
 雑誌        Am J Hum Genet 67:1095-103 (2000)
 DOI:10.1086/303105
 PMID:16317551
 著者        Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS
 タイトル      Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A&gt;G mutation that causes exon skipping.
 雑誌        Hum Genet 118:680-90 (2006)
 DOI:10.1007/s00439-005-0070-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00375"">H00375</a>","SBCAD 欠損症;
 メチル分枝鎖アシルCoA デヒドロゲナーゼ欠損症","Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA as part of the degradation of isoleucine in mitochondria.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","ACADSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:36"">36</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09478"">K09478</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566487"">C566487</a>
 OMIM: <a href=""https://www.omim.org/entry/610006"">610006</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11013134"">11013134</a>
 著者        Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F
 タイトル      Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
 雑誌        Am J Hum Genet 67:1095-103 (2000)
 DOI:<a href=""https://doi.org/10.1086/303105"">10.1086/303105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16317551"">16317551</a>
 著者        Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS
 タイトル      Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A&gt;G mutation that causes exon skipping.
 雑誌        Hum Genet 118:680-90 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-0070-4"">10.1007/s00439-005-0070-4</a>"
H00376,"急性灰白髄炎;
 ポリオ",,,"Acute poliomyelitis, often called polio, is an infectious disease caused by any of the three serotypes of poliovirus, an enterovirus in the Picornaviridae family of +ssRNA viruses. Only a small proportion of poliovirus infections results in paralytic poliomyelitis due to the viral invasion to the central nervous system.",感染症,,,"Poliovirus 1 [GN:T40344]
 Poliovirus 2 [GN:T40345]
 Poliovirus 3 [GN:T40346]",,,"アデノシン三リン酸二ナトリウム水和物 [DR:D02300]
 不活化ポリオウイルスワクチン [DR:D05543]
 人免疫グロブリン [DR:D06458]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:D10214]",,"ICD-11: 1C81
 ICD-10: A80
 MeSH: D011051
 MedlinePlus: 001402","PMID:20978089
 著者        Nathanson N, Kew OM
 タイトル      From emergence to eradication: the epidemiology of poliomyelitis deconstructed.
 雑誌        Am J Epidemiol 172:1213-29 (2010)
 DOI:10.1093/aje/kwq320","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00376"">H00376</a>","急性灰白髄炎;
 ポリオ","Acute poliomyelitis, often called polio, is an infectious disease caused by any of the three serotypes of poliovirus, an enterovirus in the Picornaviridae family of +ssRNA viruses. Only a small proportion of poliovirus infections results in paralytic poliomyelitis due to the viral invasion to the central nervous system.",,,"Poliovirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40344"">T40344</a>]
 Poliovirus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40345"">T40345</a>]
 Poliovirus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40346"">T40346</a>]",,,"アデノシン三リン酸二ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02300"">D02300</a>]
 不活化ポリオウイルスワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05543"">D05543</a>]
 人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06458"">D06458</a>]
 沈降精製百日せきジフテリア破傷風不活化ポリオ混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10214"">D10214</a>]",,"ICD-11: 1C81
 ICD-10: A80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011051"">D011051</a>
 MedlinePlus: 001402","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20978089"">20978089</a>
 著者        Nathanson N, Kew OM
 タイトル      From emergence to eradication: the epidemiology of poliomyelitis deconstructed.
 雑誌        Am J Epidemiol 172:1213-29 (2010)
 DOI:<a href=""https://doi.org/10.1093/aje/kwq320"">10.1093/aje/kwq320</a>"
H00377,狂犬病,,,"Rabies is a typical zoonotic disease caused by rabies virus that belong to the genus Lyssavirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. Dogs are the major vectors. Rabies affects the central nervous system and causes fatal encephalomyelitis.",感染症,,,Rabies virus (RABV) [GN:T40022],,,乾燥組織培養不活化狂犬病ワクチン [DR:D05248],"Preexposure vaccination with modern cell culture vaccine is recommended for people at high risk of exposure. Postexposure prophylaxis consists of wound cleansing and immunization with modern cell culture vaccine, together with administration of rabies immune globulin. There is no certain cure for rabies except supportive care.","ICD-11: 1C82
 ICD-10: A82
 MeSH: D011818
 MedlinePlus: 001334","PMID:22348291
 著者        Yousaf MZ, Qasim M, Zia S, Khan Mu, Ashfaq UA, Khan S
 タイトル      Rabies molecular virology, diagnosis, prevention and treatment.
 雑誌        Virol J 9:50 (2012)
 DOI:10.1186/1743-422X-9-50
 PMID:18297443
 著者        Takayama N
 タイトル      Rabies: a preventable but incurable disease.
 雑誌        J Infect Chemother 14:8-14 (2008)
 DOI:10.1007/s10156-007-0573-0
 PMID:18165217
 著者        Leung AK, Davies HD, Hon KL
 タイトル      Rabies: epidemiology, pathogenesis, and prophylaxis.
 雑誌        Adv Ther 24:1340-7 (2007)
 DOI:10.1007/BF02877781","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00377"">H00377</a>",狂犬病,"Rabies is a typical zoonotic disease caused by rabies virus that belong to the genus Lyssavirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. Dogs are the major vectors. Rabies affects the central nervous system and causes fatal encephalomyelitis.",,,"Rabies virus (RABV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40022"">T40022</a>]",,,"乾燥組織培養不活化狂犬病ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05248"">D05248</a>]","Preexposure vaccination with modern cell culture vaccine is recommended for people at high risk of exposure. Postexposure prophylaxis consists of wound cleansing and immunization with modern cell culture vaccine, together with administration of rabies immune globulin. There is no certain cure for rabies except supportive care.","ICD-11: 1C82
 ICD-10: A82
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011818"">D011818</a>
 MedlinePlus: 001334","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22348291"">22348291</a>
 著者        Yousaf MZ, Qasim M, Zia S, Khan Mu, Ashfaq UA, Khan S
 タイトル      Rabies molecular virology, diagnosis, prevention and treatment.
 雑誌        Virol J 9:50 (2012)
 DOI:<a href=""https://doi.org/10.1186/1743-422X-9-50"">10.1186/1743-422X-9-50</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18297443"">18297443</a>
 著者        Takayama N
 タイトル      Rabies: a preventable but incurable disease.
 雑誌        J Infect Chemother 14:8-14 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10156-007-0573-0"">10.1007/s10156-007-0573-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18165217"">18165217</a>
 著者        Leung AK, Davies HD, Hon KL
 タイトル      Rabies: epidemiology, pathogenesis, and prophylaxis.
 雑誌        Adv Ther 24:1340-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/BF02877781"">10.1007/BF02877781</a>"
H00378,"リッサウイルス感染症;
 狂犬病類似ウイルス感染症",,,"Lyssaviruses belong to the genus Lyssavirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. The genus Lyssavirus currently includes rabies virus [DS:H00377] and 6 rabies-related viruses. Rabies-related lyssaviruses utilize mostly bats as their principal reservoir hosts as well as various terrestrial carnivores as terminal hosts. They can cause acute, fatal encephalitis similar to that seen with rabies virus infection of humans. There is no effective treatment.",感染症,,,"Australian bat lyssavirus [GN:T40023]
 European bat lyssavirus 1 [GN:T40024]
 European bat lyssavirus 2 [GN:T40025]",,,,"6 rabies-related viruses; 3 from Africa, Lagos bat virus Mokola virus and Duvenhage virus; European bat lyssaviruses 1 and 2; and Australian bat lyssavirus","ICD-11: 1C82
 ICD-10: A82","PMID:21601050
 著者        Banyard AC, Hayman D, Johnson N, McElhinney L, Fooks AR
 タイトル      Bats and lyssaviruses.
 雑誌        Adv Virus Res 79:239-89 (2011)
 DOI:10.1016/B978-0-12-387040-7.00012-3
 PMID:14959767
 著者        Fooks AR, Brookes SM, Johnson N, McElhinney LM, Hutson AM
 タイトル      European bat lyssaviruses: an emerging zoonosis.
 雑誌        Epidemiol Infect 131:1029-39 (2003)
 DOI:10.1017/S0950268803001481
 PMID:17326954
 著者        Paweska JT, Blumberg LH, Liebenberg C, Hewlett RH, Grobbelaar AA, Leman PA, Croft JE, Nel LH, Nutt L, Swanepoel R
 タイトル      Fatal human infection with rabies-related Duvenhage virus, South Africa.
 雑誌        Emerg Infect Dis 12:1965-7 (2006)
 DOI:10.3201/eid1212.060764","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00378"">H00378</a>","リッサウイルス感染症;
 狂犬病類似ウイルス感染症","Lyssaviruses belong to the genus Lyssavirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. The genus Lyssavirus currently includes rabies virus [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00377"">H00377</a>] and 6 rabies-related viruses. Rabies-related lyssaviruses utilize mostly bats as their principal reservoir hosts as well as various terrestrial carnivores as terminal hosts. They can cause acute, fatal encephalitis similar to that seen with rabies virus infection of humans. There is no effective treatment.",,,"Australian bat lyssavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40023"">T40023</a>]
 European bat lyssavirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40024"">T40024</a>]
 European bat lyssavirus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40025"">T40025</a>]",,,,"6 rabies-related viruses; 3 from Africa, Lagos bat virus Mokola virus and Duvenhage virus; European bat lyssaviruses 1 and 2; and Australian bat lyssavirus","ICD-11: 1C82
 ICD-10: A82","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21601050"">21601050</a>
 著者        Banyard AC, Hayman D, Johnson N, McElhinney L, Fooks AR
 タイトル      Bats and lyssaviruses.
 雑誌        Adv Virus Res 79:239-89 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-12-387040-7.00012-3"">10.1016/B978-0-12-387040-7.00012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14959767"">14959767</a>
 著者        Fooks AR, Brookes SM, Johnson N, McElhinney LM, Hutson AM
 タイトル      European bat lyssaviruses: an emerging zoonosis.
 雑誌        Epidemiol Infect 131:1029-39 (2003)
 DOI:<a href=""https://doi.org/10.1017/S0950268803001481"">10.1017/S0950268803001481</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17326954"">17326954</a>
 著者        Paweska JT, Blumberg LH, Liebenberg C, Hewlett RH, Grobbelaar AA, Leman PA, Croft JE, Nel LH, Nutt L, Swanepoel R
 タイトル      Fatal human infection with rabies-related Duvenhage virus, South Africa.
 雑誌        Emerg Infect Dis 12:1965-7 (2006)
 DOI:<a href=""https://doi.org/10.3201/eid1212.060764"">10.3201/eid1212.060764</a>"
H00379,"蚊媒介ウイルス性脳炎
 下位グループ    日本脳炎 [DS:H01533]
 セントルイス脳炎 [DS:H02166]
 マレーバレー脳炎 [DS:H01536]
 ロシオウイルス脳炎 [DS:H02171]
 西部ウマ脳炎 [DS:H01534]
 東部ウマ脳炎 [DS:H01535]
 ベネズエラウマ脳炎 [DS:H01547]
 ラクロス脳炎 [DS:H01537]",,,"Mosquito-borne viral encephalitides are infections of the central nervous system caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",感染症,,,"Japanese encephalitis virus [GN:T40052] (+ssRNA flavivirus)
 Saint Louis encephalitis virus [GN:T40327] (+ssRNA flavivirus)
 Murray Valley encephalitis virus [GN:T40055] (+ssRNA flavivirus)
 Rocio virus [GN:T40329] (+ssRNA flavivirus)
 Western equine encephalitis virus [GN:T40053] (+ssRNA alphavirus)
 Eastern equine encephalitis virus [GN:T40054] (+ssRNA alphavirus)
 Venezuelan equine encephalitis virus [GN:T40028] (+ssRNA alphavirus)
 La Crosse virus [GN:T40056] (-ssRNA phlebovirus)",,,,,ICD-10: A83,"PMID:21802875
 著者        Stahl JP, Mailles A, Dacheux L, Morand P
 タイトル      Epidemiology of viral encephalitis in 2011.
 雑誌        Med Mal Infect 41:453-64 (2011)
 DOI:10.1016/j.medmal.2011.05.015
 PMID:18262042
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:10.1016/S0140-6736(08)60238-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>","蚊媒介ウイルス性脳炎
 下位グループ    日本脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01533"">H01533</a>]
 セントルイス脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02166"">H02166</a>]
 マレーバレー脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01536"">H01536</a>]
 ロシオウイルス脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02171"">H02171</a>]
 西部ウマ脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01534"">H01534</a>]
 東部ウマ脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01535"">H01535</a>]
 ベネズエラウマ脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01547"">H01547</a>]
 ラクロス脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01537"">H01537</a>]","Mosquito-borne viral encephalitides are infections of the central nervous system caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",,,"Japanese encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40052"">T40052</a>] (+ssRNA flavivirus)
 Saint Louis encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40327"">T40327</a>] (+ssRNA flavivirus)
 Murray Valley encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40055"">T40055</a>] (+ssRNA flavivirus)
 Rocio virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40329"">T40329</a>] (+ssRNA flavivirus)
 Western equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40053"">T40053</a>] (+ssRNA alphavirus)
 Eastern equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40054"">T40054</a>] (+ssRNA alphavirus)
 Venezuelan equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40028"">T40028</a>] (+ssRNA alphavirus)
 La Crosse virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40056"">T40056</a>] (-ssRNA phlebovirus)",,,,,ICD-10: A83,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21802875"">21802875</a>
 著者        Stahl JP, Mailles A, Dacheux L, Morand P
 タイトル      Epidemiology of viral encephalitis in 2011.
 雑誌        Med Mal Infect 41:453-64 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.medmal.2011.05.015"">10.1016/j.medmal.2011.05.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18262042"">18262042</a>
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60238-X"">10.1016/S0140-6736(08)60238-X</a>"
H00380,ダニ媒介ウイルス性脳炎,,,"Tick-borne viral encephalitis is a group of diseases caused by arboviruses closely related to yellow fever, dengue, Japanese encephalitis, and West Nile viruses. It is the most important viral tick-borne disease in Europe and is also important in the Far East and in other parts of Asia.",感染症,,,"Powassan virus [GN:T40060] (Powassan encephalitis)
 Tick-borne encephalitis virus [GN:T40061]",,,,Vector: Ixodes spp. (tick) and Culex spp. (mosquito),"ICD-11: 1C89 1C8A
 ICD-10: A84
 MeSH: D004675","PMID:18514730
 著者        Lindquist L, Vapalahti O
 タイトル      Tick-borne encephalitis.
 雑誌        Lancet 371:1861-71 (2008)
 DOI:10.1016/S0140-6736(08)60800-4
 PMID:21771531
 著者        Suss J
 タイトル      Tick-borne encephalitis 2010: epidemiology, risk areas, and virus strains in Europe and Asia-an overview.
 雑誌        Ticks Tick Borne Dis 2:2-15 (2011)
 DOI:10.1016/j.ttbdis.2010.10.007
 PMID:19420159
 著者        Mansfield KL, Johnson N, Phipps LP, Stephenson JR, Fooks AR, Solomon T
 タイトル      Tick-borne encephalitis virus - a review of an emerging zoonosis.
 雑誌        J Gen Virol 90:1781-94 (2009)
 DOI:10.1099/vir.0.011437-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00380"">H00380</a>",ダニ媒介ウイルス性脳炎,"Tick-borne viral encephalitis is a group of diseases caused by arboviruses closely related to yellow fever, dengue, Japanese encephalitis, and West Nile viruses. It is the most important viral tick-borne disease in Europe and is also important in the Far East and in other parts of Asia.",,,"Powassan virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40060"">T40060</a>] (Powassan encephalitis)
 Tick-borne encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40061"">T40061</a>]",,,,Vector: Ixodes spp. (tick) and Culex spp. (mosquito),"ICD-11: 1C89 1C8A
 ICD-10: A84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004675"">D004675</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18514730"">18514730</a>
 著者        Lindquist L, Vapalahti O
 タイトル      Tick-borne encephalitis.
 雑誌        Lancet 371:1861-71 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60800-4"">10.1016/S0140-6736(08)60800-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21771531"">21771531</a>
 著者        Suss J
 タイトル      Tick-borne encephalitis 2010: epidemiology, risk areas, and virus strains in Europe and Asia-an overview.
 雑誌        Ticks Tick Borne Dis 2:2-15 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ttbdis.2010.10.007"">10.1016/j.ttbdis.2010.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19420159"">19420159</a>
 著者        Mansfield KL, Johnson N, Phipps LP, Stephenson JR, Fooks AR, Solomon T
 タイトル      Tick-borne encephalitis virus - a review of an emerging zoonosis.
 雑誌        J Gen Virol 90:1781-94 (2009)
 DOI:<a href=""https://doi.org/10.1099/vir.0.011437-0"">10.1099/vir.0.011437-0</a>"
H00381,"デング熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Dengue is an infectious disease caused by Dengue virus (DENV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. Dengue is the most prevalent arboviral infection worldwide, and at least four different serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China as early as the third century.",感染症,,,"Dengue virus 1 [GN:T40048]
 Dengue virus 2 [GN:T40373]
 Dengue virus 3 [GN:T40374]
 Dengue virus 4 [GN:T40375]",,,,,"ICD-11: 1D20 1D21 1D22 1D2Z
 ICD-10: A97
 MeSH: D003715
 MedlinePlus: 001374 001373","PMID:21781999
 著者        Whitehorn J, Simmons CP
 タイトル      The pathogenesis of dengue.
 雑誌        Vaccine 29:7221-8 (2011)
 DOI:10.1016/j.vaccine.2011.07.022
 PMID:11590668
 著者        Kurane I, Takasaki T
 タイトル      Dengue fever and dengue haemorrhagic fever: challenges of controlling an enemy still at large.
 雑誌        Rev Med Virol 11:301-11 (2001)
 DOI:10.1002/rmv.324
 PMID:19460319
 著者        Weaver SC, Vasilakis N
 タイトル      Molecular evolution of dengue viruses: contributions of phylogenetics to understanding the history and epidemiology of the preeminent arboviral disease.
 雑誌        Infect Genet Evol 9:523-40 (2009)
 DOI:10.1016/j.meegid.2009.02.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00381"">H00381</a>","デング熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Dengue is an infectious disease caused by Dengue virus (DENV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. Dengue is the most prevalent arboviral infection worldwide, and at least four different serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China as early as the third century.",,,"Dengue virus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40048"">T40048</a>]
 Dengue virus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40373"">T40373</a>]
 Dengue virus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40374"">T40374</a>]
 Dengue virus 4 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40375"">T40375</a>]",,,,,"ICD-11: 1D20 1D21 1D22 1D2Z
 ICD-10: A97
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003715"">D003715</a>
 MedlinePlus: 001374 001373","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21781999"">21781999</a>
 著者        Whitehorn J, Simmons CP
 タイトル      The pathogenesis of dengue.
 雑誌        Vaccine 29:7221-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2011.07.022"">10.1016/j.vaccine.2011.07.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11590668"">11590668</a>
 著者        Kurane I, Takasaki T
 タイトル      Dengue fever and dengue haemorrhagic fever: challenges of controlling an enemy still at large.
 雑誌        Rev Med Virol 11:301-11 (2001)
 DOI:<a href=""https://doi.org/10.1002/rmv.324"">10.1002/rmv.324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19460319"">19460319</a>
 著者        Weaver SC, Vasilakis N
 タイトル      Molecular evolution of dengue viruses: contributions of phylogenetics to understanding the history and epidemiology of the preeminent arboviral disease.
 雑誌        Infect Genet Evol 9:523-40 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.meegid.2009.02.003"">10.1016/j.meegid.2009.02.003</a>"
H00382,"蚊媒介ウイルス熱
 下位グループ    デング熱 [DS:H00381]
 黄熱 [DS:H00384]
 ウエストナイル熱 [DS:H01548]
 ジカ熱 [DS:H01553]
 チクングニア熱 [DS:H01540]
 オニオニオン熱 [DS:H01545]
 マヤロ熱 [DS:H01546]
 ロスリバー熱 [DS:H00397]
 リフトバレー熱 [DS:H01549]
 ブニヤムウェラ熱 [DS:H01550]
 オロプーシェ熱 [DS:H02163]
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Mosquito-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",感染症,,,"Dengue virus 1 [GN:T40048] (+ssRNA flavivirus)
 Dengue virus 2 [GN:T40373] (+ssRNA flavivirus)
 Dengue virus 3 [GN:T40374] (+ssRNA flavivirus)
 Dengue virus 4 [GN:T40375] (+ssRNA flavivirus)
 Yellow fever virus [GN:T40057] (+ssRNA flavivirus)
 West Nile virus [GN:T40029] (+ssRNA flavivirus)
 Zika virus [GN:T40049] (+ssRNA flavivirus)
 Chikungunya virus [GN:T40026] (+ssRNA alphavirus)
 O'nyong-nyong virus [GN:T40027] (+ssRNA alphavirus)
 Mayaro virus [GN:T40032] (+ssRNA alphavirus)
 Ross River virus [GN:T40071] (+ssRNA alphavirus)
 Rift Valley fever virus [GN:T40030] (-ssRNA phlebovirus)
 Bunyamwera virus [GN:T40031] (-ssRNA orthobunyavirus)
 Oropouche virus [GN:T40062] (-ssRNA orthobunyavirus)",,,,,ICD-10: A92,"PMID:18262042
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:10.1016/S0140-6736(08)60238-X
 PMID:19857523
 著者        Weaver SC, Reisen WK
 タイトル      Present and future arboviral threats.
 雑誌        Antiviral Res 85:328-45 (2010)
 DOI:10.1016/j.antiviral.2009.10.008
 PMID:27876643
 著者        Mayer SV, Tesh RB, Vasilakis N
 タイトル      The emergence of arthropod-borne viral diseases: A global prospective on dengue, chikungunya and zika fevers.
 雑誌        Acta Trop 166:155-163 (2017)
 DOI:10.1016/j.actatropica.2016.11.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>","蚊媒介ウイルス熱
 下位グループ    デング熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00381"">H00381</a>]
 黄熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00384"">H00384</a>]
 ウエストナイル熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01548"">H01548</a>]
 ジカ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01553"">H01553</a>]
 チクングニア熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01540"">H01540</a>]
 オニオニオン熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01545"">H01545</a>]
 マヤロ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01546"">H01546</a>]
 ロスリバー熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00397"">H00397</a>]
 リフトバレー熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01549"">H01549</a>]
 ブニヤムウェラ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01550"">H01550</a>]
 オロプーシェ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02163"">H02163</a>]
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Mosquito-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",,,"Dengue virus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40048"">T40048</a>] (+ssRNA flavivirus)
 Dengue virus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40373"">T40373</a>] (+ssRNA flavivirus)
 Dengue virus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40374"">T40374</a>] (+ssRNA flavivirus)
 Dengue virus 4 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40375"">T40375</a>] (+ssRNA flavivirus)
 Yellow fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40057"">T40057</a>] (+ssRNA flavivirus)
 West Nile virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40029"">T40029</a>] (+ssRNA flavivirus)
 Zika virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40049"">T40049</a>] (+ssRNA flavivirus)
 Chikungunya virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40026"">T40026</a>] (+ssRNA alphavirus)
 O'nyong-nyong virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40027"">T40027</a>] (+ssRNA alphavirus)
 Mayaro virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40032"">T40032</a>] (+ssRNA alphavirus)
 Ross River virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40071"">T40071</a>] (+ssRNA alphavirus)
 Rift Valley fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40030"">T40030</a>] (-ssRNA phlebovirus)
 Bunyamwera virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40031"">T40031</a>] (-ssRNA orthobunyavirus)
 Oropouche virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40062"">T40062</a>] (-ssRNA orthobunyavirus)",,,,,ICD-10: A92,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18262042"">18262042</a>
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60238-X"">10.1016/S0140-6736(08)60238-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19857523"">19857523</a>
 著者        Weaver SC, Reisen WK
 タイトル      Present and future arboviral threats.
 雑誌        Antiviral Res 85:328-45 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2009.10.008"">10.1016/j.antiviral.2009.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27876643"">27876643</a>
 著者        Mayer SV, Tesh RB, Vasilakis N
 タイトル      The emergence of arthropod-borne viral diseases: A global prospective on dengue, chikungunya and zika fevers.
 雑誌        Acta Trop 166:155-163 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2016.11.020"">10.1016/j.actatropica.2016.11.020</a>"
H00383,"節足動物媒介ウイルス熱
 下位グループ    蚊媒介ウイルス熱 [DS:H00382]
 オムスク出血熱 [DS:H00416]
 キャサヌル森林病 [DS:H01322]
 アルハムラ出血熱 [DS:H01560]
 サシチョウバエ熱 [DS:H02164]
 重症熱性血小板減少症候群 [DS:H01416]
 クリミア・コンゴ出血熱 [DS:H00284]
 コロラドダニ熱 [DS:H02165]
 オロプーシェ熱 [DS:H02163]",,,"Arthropod-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes, other insects, mites and ticks. Arboviruses are zoonotic viruses and actually consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",感染症,,,"Omsk hemorrhagic fever virus [GN:T40058] (+ssRNA flavivirus)
 Kyasanur forest disease virus [GN:T40328] (+ssRNA flavivirus)
 Alkhumra hemorrhagic fever virus [GN:T40050] (+ssRNA flavivirus)
 Apoi virus [GN:T40065] (+ssRNA flavivirus)
 Sandfly fever Naples virus [GN:T40064] (-ssRNA phlebovirus)
 SFTS virus HB29 [GN:T40096] (-ssRNA phlebovirus)
 Crimean-Congo hemorrhagic fever virus [GN:T40011] (-ssRNA orthonairovirus)
 Colorado tick fever virus [GN:T40063] (dsRNA coltivirus)
 Oropouche virus [GN:T40062] (-ssRNA orthobunyavirus)",,,,,"ICD-10: A93
 MeSH: D010217 D003121
 MedlinePlus: 000675","PMID:18262042
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:10.1016/S0140-6736(08)60238-X
 PMID:19857523
 著者        Weaver SC, Reisen WK
 タイトル      Present and future arboviral threats.
 雑誌        Antiviral Res 85:328-45 (2010)
 DOI:10.1016/j.antiviral.2009.10.008
 PMID:17169393
 著者        Grard G, Moureau G, Charrel RN, Lemasson JJ, Gonzalez JP, Gallian P, Gritsun TS, Holmes EC, Gould EA, de Lamballerie X
 タイトル      Genetic characterization of tick-borne flaviviruses: new insights into evolution, pathogenetic determinants and taxonomy.
 雑誌        Virology 361:80-92 (2007)
 DOI:10.1016/j.virol.2006.09.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>","節足動物媒介ウイルス熱
 下位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 オムスク出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00416"">H00416</a>]
 キャサヌル森林病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01322"">H01322</a>]
 アルハムラ出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01560"">H01560</a>]
 サシチョウバエ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02164"">H02164</a>]
 重症熱性血小板減少症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01416"">H01416</a>]
 クリミア・コンゴ出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00284"">H00284</a>]
 コロラドダニ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02165"">H02165</a>]
 オロプーシェ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02163"">H02163</a>]","Arthropod-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes, other insects, mites and ticks. Arboviruses are zoonotic viruses and actually consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus.",,,"Omsk hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40058"">T40058</a>] (+ssRNA flavivirus)
 Kyasanur forest disease virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40328"">T40328</a>] (+ssRNA flavivirus)
 Alkhumra hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40050"">T40050</a>] (+ssRNA flavivirus)
 Apoi virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40065"">T40065</a>] (+ssRNA flavivirus)
 Sandfly fever Naples virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40064"">T40064</a>] (-ssRNA phlebovirus)
 SFTS virus HB29 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40096"">T40096</a>] (-ssRNA phlebovirus)
 Crimean-Congo hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40011"">T40011</a>] (-ssRNA orthonairovirus)
 Colorado tick fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40063"">T40063</a>] (dsRNA coltivirus)
 Oropouche virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40062"">T40062</a>] (-ssRNA orthobunyavirus)",,,,,"ICD-10: A93
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010217"">D010217</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003121"">D003121</a>
 MedlinePlus: 000675","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18262042"">18262042</a>
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60238-X"">10.1016/S0140-6736(08)60238-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19857523"">19857523</a>
 著者        Weaver SC, Reisen WK
 タイトル      Present and future arboviral threats.
 雑誌        Antiviral Res 85:328-45 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2009.10.008"">10.1016/j.antiviral.2009.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17169393"">17169393</a>
 著者        Grard G, Moureau G, Charrel RN, Lemasson JJ, Gonzalez JP, Gallian P, Gritsun TS, Holmes EC, Gould EA, de Lamballerie X
 タイトル      Genetic characterization of tick-borne flaviviruses: new insights into evolution, pathogenetic determinants and taxonomy.
 雑誌        Virology 361:80-92 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.virol.2006.09.015"">10.1016/j.virol.2006.09.015</a>"
H00384,"黄熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Yellow fever is an infectious disease caused by Yellow fever virus (YFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. YFV was was first isolated in 1927 in West Africa.",感染症,,,Yellow fever virus [GN:T40057],,,黄熱病ワクチン [DR:D06347],,"ICD-11: 1D47
 ICD-10: A95
 MeSH: D015004
 MedlinePlus: 001365","PMID:17304460
 著者        Barnett ED
 タイトル      Yellow fever: epidemiology and prevention.
 雑誌        Clin Infect Dis 44:850-6 (2007)
 DOI:10.1086/511869
 PMID:21798462
 著者        Jentes ES, Poumerol G, Gershman MD, Hill DR, Lemarchand J, Lewis RF, Staples JE, Tomori O, Wilder-Smith A, Monath TP
 タイトル      The revised global yellow fever risk map and recommendations for vaccination, 2010: consensus of the Informal WHO Working Group on Geographic Risk for Yellow Fever.
 雑誌        Lancet Infect Dis 11:622-32 (2011)
 DOI:10.1016/S1473-3099(11)70147-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00384"">H00384</a>","黄熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Yellow fever is an infectious disease caused by Yellow fever virus (YFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. YFV was was first isolated in 1927 in West Africa.",,,"Yellow fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40057"">T40057</a>]",,,"黄熱病ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06347"">D06347</a>]",,"ICD-11: 1D47
 ICD-10: A95
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015004"">D015004</a>
 MedlinePlus: 001365","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17304460"">17304460</a>
 著者        Barnett ED
 タイトル      Yellow fever: epidemiology and prevention.
 雑誌        Clin Infect Dis 44:850-6 (2007)
 DOI:<a href=""https://doi.org/10.1086/511869"">10.1086/511869</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21798462"">21798462</a>
 著者        Jentes ES, Poumerol G, Gershman MD, Hill DR, Lemarchand J, Lewis RF, Staples JE, Tomori O, Wilder-Smith A, Monath TP
 タイトル      The revised global yellow fever risk map and recommendations for vaccination, 2010: consensus of the Informal WHO Working Group on Geographic Risk for Yellow Fever.
 雑誌        Lancet Infect Dis 11:622-32 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(11)70147-5"">10.1016/S1473-3099(11)70147-5</a>"
H00385,"南米出血熱
 下位グループ    アルゼンチン出血熱 [DS:H01541]
 ボリビア出血熱 [DS:H01542]
 ベネズエラ出血熱 [DS:H01543]
 ブラジル出血熱 [DS:H01544]
 上位グループ    アレナウイルス性出血熱 [DS:H02173]",,,"Arenaviruses in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses have a natural reservoir in rodents and occasionally infect humans causing viral hemorrhagic fevers. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting the restricted geographical distribution of natural reservoir species. This disease category is created in corcondance with the Japanese Infectious Diseases Control Law.",感染症,,,"Junin mammarenavirus [GN:T40005] (Argentine hemorrhagic fever)
 Machupo mammarenavirus [GN:T40006] (Bolivian hemorrhagic fever)
 Guanarito mammarenavirus [GN:T40007] (Venezuelan hemorrhagic fever)
 Sabia mammarenavirus [GN:T40008] (Brazilian hemorrhagic fever)",,,,,ICD-10: A96,"PMID:18036672
 著者        Gowen BB, Holbrook MR
 タイトル      Animal models of highly pathogenic RNA viral infections: hemorrhagic fever viruses.
 雑誌        Antiviral Res 78:79-90 (2008)
 DOI:10.1016/j.antiviral.2007.10.002
 PMID:16815457
 著者        Marty AM, Jahrling PB, Geisbert TW
 タイトル      Viral hemorrhagic fevers.
 雑誌        Clin Lab Med 26:345-86, viii (2006)
 DOI:10.1016/j.cll.2006.05.001
 PMID:15955687
 著者        Bray M
 タイトル      Pathogenesis of viral hemorrhagic fever.
 雑誌        Curr Opin Immunol 17:399-403 (2005)
 DOI:10.1016/j.coi.2005.05.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>","南米出血熱
 下位グループ    アルゼンチン出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01541"">H01541</a>]
 ボリビア出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01542"">H01542</a>]
 ベネズエラ出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01543"">H01543</a>]
 ブラジル出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01544"">H01544</a>]
 上位グループ    アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Arenaviruses in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses have a natural reservoir in rodents and occasionally infect humans causing viral hemorrhagic fevers. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting the restricted geographical distribution of natural reservoir species. This disease category is created in corcondance with the Japanese Infectious Diseases Control Law.",,,"Junin mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40005"">T40005</a>] (Argentine hemorrhagic fever)
 Machupo mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40006"">T40006</a>] (Bolivian hemorrhagic fever)
 Guanarito mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40007"">T40007</a>] (Venezuelan hemorrhagic fever)
 Sabia mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40008"">T40008</a>] (Brazilian hemorrhagic fever)",,,,,ICD-10: A96,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18036672"">18036672</a>
 著者        Gowen BB, Holbrook MR
 タイトル      Animal models of highly pathogenic RNA viral infections: hemorrhagic fever viruses.
 雑誌        Antiviral Res 78:79-90 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2007.10.002"">10.1016/j.antiviral.2007.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16815457"">16815457</a>
 著者        Marty AM, Jahrling PB, Geisbert TW
 タイトル      Viral hemorrhagic fevers.
 雑誌        Clin Lab Med 26:345-86, viii (2006)
 DOI:<a href=""https://doi.org/10.1016/j.cll.2006.05.001"">10.1016/j.cll.2006.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15955687"">15955687</a>
 著者        Bray M
 タイトル      Pathogenesis of viral hemorrhagic fever.
 雑誌        Curr Opin Immunol 17:399-403 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.coi.2005.05.001"">10.1016/j.coi.2005.05.001</a>"
H00386,"ラッサ熱
 上位グループ    アレナウイルス性出血熱 [DS:H02173]",,,"Lassa fever is an acute viral hemorrhagic illness caused by Lassa virus (LASV), an Old World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LASV was first discovered in 1969 in Nigeria.",感染症,,,Lassa mammarenavirus [GN:T40010],,,,,"ICD-11: 1D61.2
 ICD-10: A96.2
 MeSH: D007835","PMID:15487592
 著者        Gunther S, Lenz O
 タイトル      Lassa virus.
 雑誌        Crit Rev Clin Lab Sci 41:339-90 (2004)
 DOI:10.1080/10408360490497456
 PMID:18241935
 著者        Khan SH, Goba A, Chu M, Roth C, Healing T, Marx A, Fair J, Guttieri MC, Ferro P, Imes T, Monagin C, Garry RF, Bausch DG
 タイトル      New opportunities for field research on the pathogenesis and treatment of Lassa fever.
 雑誌        Antiviral Res 78:103-15 (2008)
 DOI:10.1016/j.antiviral.2007.11.003
 PMID:17378212
 著者        Ogbu O, Ajuluchukwu E, Uneke CJ
 タイトル      Lassa fever in West African sub-region: an overview.
 雑誌        J Vector Borne Dis 44:1-11 (2007)
 PMID:16802617
 著者        Curtis N
 タイトル      Viral haemorrhagic fevers caused by Lassa, Ebola and Marburg viruses.
 雑誌        Adv Exp Med Biol 582:35-44 (2006)
 DOI:10.1007/0-387-33026-7_4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00386"">H00386</a>","ラッサ熱
 上位グループ    アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Lassa fever is an acute viral hemorrhagic illness caused by Lassa virus (LASV), an Old World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LASV was first discovered in 1969 in Nigeria.",,,"Lassa mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40010"">T40010</a>]",,,,,"ICD-11: 1D61.2
 ICD-10: A96.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007835"">D007835</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15487592"">15487592</a>
 著者        Gunther S, Lenz O
 タイトル      Lassa virus.
 雑誌        Crit Rev Clin Lab Sci 41:339-90 (2004)
 DOI:<a href=""https://doi.org/10.1080/10408360490497456"">10.1080/10408360490497456</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18241935"">18241935</a>
 著者        Khan SH, Goba A, Chu M, Roth C, Healing T, Marx A, Fair J, Guttieri MC, Ferro P, Imes T, Monagin C, Garry RF, Bausch DG
 タイトル      New opportunities for field research on the pathogenesis and treatment of Lassa fever.
 雑誌        Antiviral Res 78:103-15 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2007.11.003"">10.1016/j.antiviral.2007.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17378212"">17378212</a>
 著者        Ogbu O, Ajuluchukwu E, Uneke CJ
 タイトル      Lassa fever in West African sub-region: an overview.
 雑誌        J Vector Borne Dis 44:1-11 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16802617"">16802617</a>
 著者        Curtis N
 タイトル      Viral haemorrhagic fevers caused by Lassa, Ebola and Marburg viruses.
 雑誌        Adv Exp Med Biol 582:35-44 (2006)
 DOI:<a href=""https://doi.org/10.1007/0-387-33026-7_4"">10.1007/0-387-33026-7_4</a>"
H00387,Bウイルス感染症,,,"Macacine herpesvirus 1, also known as B virus, is an alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is similar to that of HSV-1 and HSV-2 in humans and serious disease is rare. However, in humans, it invades the central nervous system and causes serious encephalitis with a fatality rate greater than 70%.",感染症,,,Macacine herpesvirus 1 [GN:T40077],,,,,ICD-10: B00.4A,"PMID:20510749 (description, env_factor)
 著者        Estep RD, Messaoudi I, Wong SW
 タイトル      Simian herpesviruses and their risk to humans.
 雑誌        Vaccine 28 Suppl 2:B78-84 (2010)
 DOI:10.1016/j.vaccine.2009.11.026
 PMID:19793452
 著者        Elmore D, Eberle R
 タイトル      Monkey B virus (Cercopithecine herpesvirus 1).
 雑誌        Comp Med 58:11-21 (2008)
 PMID:1313312
 著者        Weigler BJ
 タイトル      Biology of B virus in macaque and human hosts: a review.
 雑誌        Clin Infect Dis 14:555-67 (1992)
 DOI:10.1093/clinids/14.2.555","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00387"">H00387</a>",Bウイルス感染症,"Macacine herpesvirus 1, also known as B virus, is an alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is similar to that of HSV-1 and HSV-2 in humans and serious disease is rare. However, in humans, it invades the central nervous system and causes serious encephalitis with a fatality rate greater than 70%.",,,"Macacine herpesvirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40077"">T40077</a>]",,,,,ICD-10: B00.4A,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20510749"">20510749</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Estep RD, Messaoudi I, Wong SW
 タイトル      Simian herpesviruses and their risk to humans.
 雑誌        Vaccine 28 Suppl 2:B78-84 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2009.11.026"">10.1016/j.vaccine.2009.11.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19793452"">19793452</a>
 著者        Elmore D, Eberle R
 タイトル      Monkey B virus (Cercopithecine herpesvirus 1).
 雑誌        Comp Med 58:11-21 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1313312"">1313312</a>
 著者        Weigler BJ
 タイトル      Biology of B virus in macaque and human hosts: a review.
 雑誌        Clin Infect Dis 14:555-67 (1992)
 DOI:<a href=""https://doi.org/10.1093/clinids/14.2.555"">10.1093/clinids/14.2.555</a>"
H00388,非クラミジア性非淋菌性尿道炎,,,"Urethritis in men is one of the most common sexually transmitted diseases. Recently, it has been suggested that various pathogenic microorganisms such as Mycoplasma genitalium and Ureaplasma urealyticum are causative agents of non-chlamydial nongonococcal urethritis. M. genitalium is also linked to several inflammatory reproductive tract syndromes in women.",感染症,,,"Mycoplasma genitalium [GN:mge mgu mgc mgq mgx]
 Mycoplasma penetrans [GN:mpe]
 Mycoplasma hominis [GN:mho]
 Ureaplasma urealyticum [GN:uue]
 Ureaplasma parvum [GN:uur upa]",,,,,"ICD-11: 1A9Y
 ICD-10: A63.8
 MeSH: D045704
 MedlinePlus: 000439","PMID:19177768
 著者        Deguchi T, Yasuda M, Maeda S
 タイトル      [Non-chlamydial non-gonococcal urethritis]
 雑誌        Nippon Rinsho 67:167-71 (2009)
 PMID:14678525
 著者        Jensen JS
 タイトル      Mycoplasma genitalium: the aetiological agent of urethritis and other sexually transmitted diseases.
 雑誌        J Eur Acad Dermatol Venereol 18:1-11 (2004)
 DOI:10.1111/j.1468-3083.2004.00923.x
 PMID:15364301
 著者        Ishihara S, Yasuda M, Ito S, Maeda S, Deguchi T
 タイトル      Mycoplasma genitalium urethritis in men.
 雑誌        Int J Antimicrob Agents 24 Suppl 1:S23-7 (2004)
 DOI:10.1016/j.ijantimicag.2004.02.006
 PMID:20706675
 著者        Larsen B, Hwang J
 タイトル      Mycoplasma, Ureaplasma, and adverse pregnancy outcomes: a fresh look.
 雑誌        Infect Dis Obstet Gynecol 2010:521921 (2010)
 DOI:10.1155/2010/521921","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00388"">H00388</a>",非クラミジア性非淋菌性尿道炎,"Urethritis in men is one of the most common sexually transmitted diseases. Recently, it has been suggested that various pathogenic microorganisms such as Mycoplasma genitalium and Ureaplasma urealyticum are causative agents of non-chlamydial nongonococcal urethritis. M. genitalium is also linked to several inflammatory reproductive tract syndromes in women.",,,"Mycoplasma genitalium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mge"">mge</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgu"">mgu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgc"">mgc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgq"">mgq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgx"">mgx</a>]
 Mycoplasma penetrans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mpe"">mpe</a>]
 Mycoplasma hominis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mho"">mho</a>]
 Ureaplasma urealyticum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:uue"">uue</a>]
 Ureaplasma parvum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:uur"">uur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:upa"">upa</a>]",,,,,"ICD-11: 1A9Y
 ICD-10: A63.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045704"">D045704</a>
 MedlinePlus: 000439","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19177768"">19177768</a>
 著者        Deguchi T, Yasuda M, Maeda S
 タイトル      [Non-chlamydial non-gonococcal urethritis]
 雑誌        Nippon Rinsho 67:167-71 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14678525"">14678525</a>
 著者        Jensen JS
 タイトル      Mycoplasma genitalium: the aetiological agent of urethritis and other sexually transmitted diseases.
 雑誌        J Eur Acad Dermatol Venereol 18:1-11 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2004.00923.x"">10.1111/j.1468-3083.2004.00923.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15364301"">15364301</a>
 著者        Ishihara S, Yasuda M, Ito S, Maeda S, Deguchi T
 タイトル      Mycoplasma genitalium urethritis in men.
 雑誌        Int J Antimicrob Agents 24 Suppl 1:S23-7 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ijantimicag.2004.02.006"">10.1016/j.ijantimicag.2004.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20706675"">20706675</a>
 著者        Larsen B, Hwang J
 タイトル      Mycoplasma, Ureaplasma, and adverse pregnancy outcomes: a fresh look.
 雑誌        Infect Dis Obstet Gynecol 2010:521921 (2010)
 DOI:<a href=""https://doi.org/10.1155/2010/521921"">10.1155/2010/521921</a>"
H00389,腎症候性出血熱,,,"Hemorrhagic fever with renal syndrome (HFRS) is a group of diseases caused by hantaviruses which are members of family Bunyaviridae. Rodents and Soricomorpha species are natural reservoirs of these viruses, and humans acquire infection by inhaling the excreta of infected animals. HFRS is characterized by renal failure, hemorrhages, and shock. The serotype Puumala virus also causes nephropathia epidemica, a milder variant of HFRS.",感染症,,,"Hantaan virus [GN:T40016]
 Seoul virus [GN:T40017]
 Dobrava-Belgrade virus [GN:T40018]
 Puumala virus [GN:T40019]",,,,,"ICD-11: 1D62.0
 ICD-10: A98.5
 MeSH: D006480","PMID:15744574
 著者        Zeier M, Handermann M, Bahr U, Rensch B, Muller S, Kehm R, Muranyi W, Darai G
 タイトル      New ecological aspects of hantavirus infection: a change of a paradigm and a challenge of prevention--a review.
 雑誌        Virus Genes 30:157-80 (2005)
 DOI:10.1007/s11262-004-5625-2
 PMID:22403334
 著者        Kariwa H, Yoshikawa K, Tanikawa Y, Seto T, Sanada T, Saasa N, Ivanov LI, Slonova R, Zakharycheva TA, Nakamura I, Yoshimatsu K, Arikawa J, Yoshii K, Takashima I
 タイトル      Isolation and characterization of hantaviruses in Far East Russia and etiology of hemorrhagic fever with renal syndrome in the region.
 雑誌        Am J Trop Med Hyg 86:545-53 (2012)
 DOI:10.4269/ajtmh.2012.11-0297","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00389"">H00389</a>",腎症候性出血熱,"Hemorrhagic fever with renal syndrome (HFRS) is a group of diseases caused by hantaviruses which are members of family Bunyaviridae. Rodents and Soricomorpha species are natural reservoirs of these viruses, and humans acquire infection by inhaling the excreta of infected animals. HFRS is characterized by renal failure, hemorrhages, and shock. The serotype Puumala virus also causes nephropathia epidemica, a milder variant of HFRS.",,,"Hantaan virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40016"">T40016</a>]
 Seoul virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40017"">T40017</a>]
 Dobrava-Belgrade virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40018"">T40018</a>]
 Puumala virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40019"">T40019</a>]",,,,,"ICD-11: 1D62.0
 ICD-10: A98.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006480"">D006480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15744574"">15744574</a>
 著者        Zeier M, Handermann M, Bahr U, Rensch B, Muller S, Kehm R, Muranyi W, Darai G
 タイトル      New ecological aspects of hantavirus infection: a change of a paradigm and a challenge of prevention--a review.
 雑誌        Virus Genes 30:157-80 (2005)
 DOI:<a href=""https://doi.org/10.1007/s11262-004-5625-2"">10.1007/s11262-004-5625-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22403334"">22403334</a>
 著者        Kariwa H, Yoshikawa K, Tanikawa Y, Seto T, Sanada T, Saasa N, Ivanov LI, Slonova R, Zakharycheva TA, Nakamura I, Yoshimatsu K, Arikawa J, Yoshii K, Takashima I
 タイトル      Isolation and characterization of hantaviruses in Far East Russia and etiology of hemorrhagic fever with renal syndrome in the region.
 雑誌        Am J Trop Med Hyg 86:545-53 (2012)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2012.11-0297"">10.4269/ajtmh.2012.11-0297</a>"
H00390,ハンタウイルス肺症候群,,,"Hantavirus pulmonary syndrome is an often fatal infectious disease caused by orthohantaviruses in the order Bunyavirales of -ssRNA viruses. Rodents have long been considered to be the primary reservoir hosts of hantaviruses. However, recent discoveries have revealed that hantaviruses infect a more diverse range of mammalian hosts, particularly Chiroptera and Soricomorpha.",感染症,,,"Sin Nombre virus [GN:T40020]
 Andes virus [GN:T40021]
 Bayou virus [GN:T40358]",,,,"At present there are no efficacious vaccines, immunotherapeutics, or antivirals licensed for HPS.","ICD-11: 1D62.1
 ICD-10: B33.4
 MeSH: D018804","PMID:21945215 (description, env_factor, comment)
 著者        Macneil A, Nichol ST, Spiropoulou CF
 タイトル      Hantavirus pulmonary syndrome.
 雑誌        Virus Res 162:138-47 (2011)
 DOI:10.1016/j.virusres.2011.09.017
 PMID:19434035 (deacription, env_factor)
 著者        Vinh DC, Embil JM
 タイトル      Hantavirus pulmonary syndrome: a concise clinical review.
 雑誌        South Med J 102:620-5 (2009)
 DOI:10.1097/SMJ.0b013e3181a4eeda
 PMID:12521363
 著者        Lednicky JA
 タイトル      Hantaviruses. a short review.
 雑誌        Arch Pathol Lab Med 127:30-5 (2003)
 DOI:10.1043/0003-9985(2003)127<30:>2.0.CO;2
 PMID:25562117
 著者        Holmes EC, Zhang YZ
 タイトル      The evolution and emergence of hantaviruses.
 雑誌        Curr Opin Virol 10:27-33 (2015)
 DOI:10.1016/j.coviro.2014.12.007
 PMID:24852723
 著者        Bennett SN, Gu SH, Kang HJ, Arai S, Yanagihara R
 タイトル      Reconstructing the evolutionary origins and phylogeography of hantaviruses.
 雑誌        Trends Microbiol 22:473-82 (2014)
 DOI:10.1016/j.tim.2014.04.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00390"">H00390</a>",ハンタウイルス肺症候群,"Hantavirus pulmonary syndrome is an often fatal infectious disease caused by orthohantaviruses in the order Bunyavirales of -ssRNA viruses. Rodents have long been considered to be the primary reservoir hosts of hantaviruses. However, recent discoveries have revealed that hantaviruses infect a more diverse range of mammalian hosts, particularly Chiroptera and Soricomorpha.",,,"Sin Nombre virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40020"">T40020</a>]
 Andes virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40021"">T40021</a>]
 Bayou virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40358"">T40358</a>]",,,,"At present there are no efficacious vaccines, immunotherapeutics, or antivirals licensed for HPS.","ICD-11: 1D62.1
 ICD-10: B33.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018804"">D018804</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21945215"">21945215</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Macneil A, Nichol ST, Spiropoulou CF
 タイトル      Hantavirus pulmonary syndrome.
 雑誌        Virus Res 162:138-47 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.virusres.2011.09.017"">10.1016/j.virusres.2011.09.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19434035"">19434035</a> (deacription, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Vinh DC, Embil JM
 タイトル      Hantavirus pulmonary syndrome: a concise clinical review.
 雑誌        South Med J 102:620-5 (2009)
 DOI:<a href=""https://doi.org/10.1097/SMJ.0b013e3181a4eeda"">10.1097/SMJ.0b013e3181a4eeda</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12521363"">12521363</a>
 著者        Lednicky JA
 タイトル      Hantaviruses. a short review.
 雑誌        Arch Pathol Lab Med 127:30-5 (2003)
 DOI:<a href=""https://doi.org/10.1043/0003-9985(2003)127<30:"">10.1043/0003-9985(2003)127<30:</a><a href=""https://doi.org/>2.0.CO;2"">>2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25562117"">25562117</a>
 著者        Holmes EC, Zhang YZ
 タイトル      The evolution and emergence of hantaviruses.
 雑誌        Curr Opin Virol 10:27-33 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.coviro.2014.12.007"">10.1016/j.coviro.2014.12.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24852723"">24852723</a>
 著者        Bennett SN, Gu SH, Kang HJ, Arai S, Yanagihara R
 タイトル      Reconstructing the evolutionary origins and phylogeography of hantaviruses.
 雑誌        Trends Microbiol 22:473-82 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.tim.2014.04.008"">10.1016/j.tim.2014.04.008</a>"
H00391,"ヘニパウイルス感染症
 下位グループ    ヘンドラウイルス感染症 [DS:H01538]
 ニパウイルス感染症 [DS:H01539]",,,"Hendra virus and Nipah virus are members of a new genus, Henipavirus, in the emerging family Paramyxoviridae. They are bat-borne paramyxoviruses which are responsible for severe disease with high mortality rates (50-100%).",感染症,,,"Hendra virus [GN:T40046]
 Nipah virus [GN:T40047]",,,,Vector: Pteropus bats (flying foxex),"ICD-11: 1D63
 MeSH: D045464","PMID:22483665
 著者        Marsh GA, Wang LF
 タイトル      Hendra and Nipah viruses: why are they so deadly?
 雑誌        Curr Opin Virol 2:242-7 (2012)
 DOI:10.1016/j.coviro.2012.03.006
 PMID:21488828
 著者        Vigant F, Lee B
 タイトル      Hendra and nipah infection: pathology, models and potential therapies.
 雑誌        Infect Disord Drug Targets 11:315-36 (2011)
 DOI:10.2174/187152611795768097
 PMID:22482714 (drug)
 著者        Broder CC
 タイトル      Henipavirus outbreaks to antivirals: the current status of potential therapeutics.
 雑誌        Curr Opin Virol 2:176-87 (2012)
 DOI:10.1016/j.coviro.2012.02.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00391"">H00391</a>","ヘニパウイルス感染症
 下位グループ    ヘンドラウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01538"">H01538</a>]
 ニパウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01539"">H01539</a>]","Hendra virus and Nipah virus are members of a new genus, Henipavirus, in the emerging family Paramyxoviridae. They are bat-borne paramyxoviruses which are responsible for severe disease with high mortality rates (50-100%).",,,"Hendra virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40046"">T40046</a>]
 Nipah virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40047"">T40047</a>]",,,,Vector: Pteropus bats (flying foxex),"ICD-11: 1D63
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045464"">D045464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22483665"">22483665</a>
 著者        Marsh GA, Wang LF
 タイトル      Hendra and Nipah viruses: why are they so deadly?
 雑誌        Curr Opin Virol 2:242-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.coviro.2012.03.006"">10.1016/j.coviro.2012.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21488828"">21488828</a>
 著者        Vigant F, Lee B
 タイトル      Hendra and nipah infection: pathology, models and potential therapies.
 雑誌        Infect Disord Drug Targets 11:315-36 (2011)
 DOI:<a href=""https://doi.org/10.2174/187152611795768097"">10.2174/187152611795768097</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22482714"">22482714</a> (drug)
 著者        Broder CC
 タイトル      Henipavirus outbreaks to antivirals: the current status of potential therapeutics.
 雑誌        Curr Opin Virol 2:176-87 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.coviro.2012.02.016"">10.1016/j.coviro.2012.02.016</a>"
H00392,"VLCAD 欠損症;
 極長鎖アシルCoA デヒドロゲナーゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents with hypoketotic hypoglycaemia, and an adult onset form that mainly causes muscular symptoms.",先天性代謝異常症,nt06020  beta-Oxidation in mitochondria,ACADVL [HSA:37] [KO:K09479],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C536353
 OMIM: 201475","PMID:25456746
 著者        Brown A, Crowe L, Andresen BS, Anderson V, Boneh A
 タイトル      Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
 雑誌        Mol Genet Metab 113:278-82 (2014)
 DOI:10.1016/j.ymgme.2014.10.005
 PMID:26385305
 著者        Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ
 タイトル      Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
 雑誌        Mol Genet Metab 116:139-45 (2015)
 DOI:10.1016/j.ymgme.2015.08.011
 PMID:9973285
 著者        Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N
 タイトル      Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
 雑誌        Am J Hum Genet 64:479-94 (1999)
 DOI:10.1086/302261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00392"">H00392</a>","VLCAD 欠損症;
 極長鎖アシルCoA デヒドロゲナーゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents with hypoketotic hypoglycaemia, and an adult onset form that mainly causes muscular symptoms.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","ACADVL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:37"">37</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09479"">K09479</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536353"">C536353</a>
 OMIM: <a href=""https://www.omim.org/entry/201475"">201475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25456746"">25456746</a>
 著者        Brown A, Crowe L, Andresen BS, Anderson V, Boneh A
 タイトル      Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
 雑誌        Mol Genet Metab 113:278-82 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2014.10.005"">10.1016/j.ymgme.2014.10.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26385305"">26385305</a>
 著者        Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ
 タイトル      Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
 雑誌        Mol Genet Metab 116:139-45 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2015.08.011"">10.1016/j.ymgme.2015.08.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9973285"">9973285</a>
 著者        Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N
 タイトル      Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
 雑誌        Am J Hum Genet 64:479-94 (1999)
 DOI:<a href=""https://doi.org/10.1086/302261"">10.1086/302261</a>"
H00393,"エンテロウイルス感染症;
 非ポリオエンテロウイルス感染症
 下位グループ    手足口病 [DS:H01326]
 ヘルパンギーナ [DS:H01327]
 急性出血性結膜炎 [DS:H01421]
 無菌性髄膜炎 [DS:H01429]
 流行性筋痛症 [DS:H02413]",,,"Enteroviruses are a large and diverse group of viruses belonging to the genus Enterovirus in the family Picornaviridae of +ssRNA viruse. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral conjunctivitis, viral meningitis and other diseases.",感染症,,,"Enterovirus A [GN:T40103]
 Enterovirus B [GN:T40104]
 Enterovirus C [GN:T40105]
 Enterovirus D [GN:T40106]",,,,,"ICD-11: 1C8E.1 1D83 1D84.1 1D91 1F05
 ICD-10: B34.1 A85.0 A87.0 B08.4 B08.5 B30.3 B33.0
 MeSH: D004769
 MedlinePlus: 000965 000969 001340","PMID:16287683
 著者        Palacios G, Oberste MS
 タイトル      Enteroviruses as agents of emerging infectious diseases.
 雑誌        J Neurovirol 11:424-33 (2005)
 DOI:10.1080/13550280591002531
 PMID:21251690
 著者        Rhoades RE, Tabor-Godwin JM, Tsueng G, Feuer R
 タイトル      Enterovirus infections of the central nervous system.
 雑誌        Virology 411:288-305 (2011)
 DOI:10.1016/j.virol.2010.12.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>","エンテロウイルス感染症;
 非ポリオエンテロウイルス感染症
 下位グループ    手足口病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01326"">H01326</a>]
 ヘルパンギーナ [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01327"">H01327</a>]
 急性出血性結膜炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01421"">H01421</a>]
 無菌性髄膜炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01429"">H01429</a>]
 流行性筋痛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02413"">H02413</a>]","Enteroviruses are a large and diverse group of viruses belonging to the genus Enterovirus in the family Picornaviridae of +ssRNA viruse. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral conjunctivitis, viral meningitis and other diseases.",,,"Enterovirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40103"">T40103</a>]
 Enterovirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40104"">T40104</a>]
 Enterovirus C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40105"">T40105</a>]
 Enterovirus D [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40106"">T40106</a>]",,,,,"ICD-11: 1C8E.1 1D83 1D84.1 1D91 1F05
 ICD-10: B34.1 A85.0 A87.0 B08.4 B08.5 B30.3 B33.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004769"">D004769</a>
 MedlinePlus: 000965 000969 001340","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16287683"">16287683</a>
 著者        Palacios G, Oberste MS
 タイトル      Enteroviruses as agents of emerging infectious diseases.
 雑誌        J Neurovirol 11:424-33 (2005)
 DOI:<a href=""https://doi.org/10.1080/13550280591002531"">10.1080/13550280591002531</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21251690"">21251690</a>
 著者        Rhoades RE, Tabor-Godwin JM, Tsueng G, Feuer R
 タイトル      Enterovirus infections of the central nervous system.
 雑誌        Virology 411:288-305 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.virol.2010.12.014"">10.1016/j.virol.2010.12.014</a>"
H00394,麻疹,,,"Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The virus was first isolated in 1954 and transformed into a vaccine in 1963 in the USA.",感染症,"nt06114  PI3K signaling (viruses)
 nt06121  TLR signaling (viruses and bacteria)
 nt06122  IFN signaling (viruses)
 nt06133  RLR signaling (viruses)
 nt06138  PKR-eIF2alpha signaling (viruses)
 nt06140  Transcription (viruses)
 nt06169  Measles virus (MV)",,Measles virus [GN:T40033],,,"乾燥弱毒生麻しんワクチン [DR:D04866]
 人免疫グロブリン [DR:D06458]
 乾燥弱毒生麻しん風しん混合ワクチン [DR:D08804]",,"ICD-11: 1F03
 ICD-10: B05
 MeSH: D008457
 MedlinePlus: 001569","PMID:7730801
 著者        Rima BK, Earle JA, Yeo RP, Herlihy L, Baczko K, ter Meulen V, Carabana J, Caballero M, Celma ML, Fernandez-Munoz R
 タイトル      Temporal and geographical distribution of measles virus genotypes.
 雑誌        J Gen Virol 76 ( Pt 5):1173-80 (1995)
 DOI:10.1099/0022-1317-76-5-1173","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00394"">H00394</a>",麻疹,"Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The virus was first isolated in 1954 and transformed into a vaccine in 1963 in the USA.","<a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06138"">nt06138</a>  PKR-eIF2alpha signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06140"">nt06140</a>  Transcription (viruses)
 <a href=""https://www.kegg.jp/network/nt06169"">nt06169</a>  Measles virus (MV)",,"Measles virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40033"">T40033</a>]",,,"乾燥弱毒生麻しんワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04866"">D04866</a>]
 人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06458"">D06458</a>]
 乾燥弱毒生麻しん風しん混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08804"">D08804</a>]",,"ICD-11: 1F03
 ICD-10: B05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008457"">D008457</a>
 MedlinePlus: 001569","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7730801"">7730801</a>
 著者        Rima BK, Earle JA, Yeo RP, Herlihy L, Baczko K, ter Meulen V, Carabana J, Caballero M, Celma ML, Fernandez-Munoz R
 タイトル      Temporal and geographical distribution of measles virus genotypes.
 雑誌        J Gen Virol 76 ( Pt 5):1173-80 (1995)
 DOI:<a href=""https://doi.org/10.1099/0022-1317-76-5-1173"">10.1099/0022-1317-76-5-1173</a>"
H00395,"風疹
 下位グループ    先天性風疹症候群",,,"Rubella, also known as German measles, is an infection caused by the rubella virus in the Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing baby when the mother is infected early in pregnancy. The virus was first isolated in 1962.",感染症,,,Rubella virus [GN:T40070],,,"乾燥弱毒生風しんワクチン [DR:D06512]
 乾燥弱毒生麻しん風しん混合ワクチン [DR:D08804]",,"ICD-11: 1F02
 ICD-10: B06 P35.0
 MeSH: D012409 D012410
 MedlinePlus: 001574 001658","PMID:15064032
 著者        Banatvala JE, Brown DW
 タイトル      Rubella.
 雑誌        Lancet 363:1127-37 (2004)
 DOI:10.1016/S0140-6736(04)15897-2
 PMID:9796387
 著者        Hinman AR, Hersh BS, de Quadros CA
 タイトル      Rational use of rubella vaccine for prevention of congenital rubella syndrome in the Americas.
 雑誌        Rev Panam Salud Publica 4:156-60 (1998)
 DOI:10.1590/s1020-49891998000900002
 PMID:16580940
 著者        De Santis M, Cavaliere AF, Straface G, Caruso A
 タイトル      Rubella infection in pregnancy.
 雑誌        Reprod Toxicol 21:390-8 (2006)
 DOI:10.1016/j.reprotox.2005.01.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00395"">H00395</a>","風疹
 下位グループ    先天性風疹症候群","Rubella, also known as German measles, is an infection caused by the rubella virus in the Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing baby when the mother is infected early in pregnancy. The virus was first isolated in 1962.",,,"Rubella virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40070"">T40070</a>]",,,"乾燥弱毒生風しんワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06512"">D06512</a>]
 乾燥弱毒生麻しん風しん混合ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08804"">D08804</a>]",,"ICD-11: 1F02
 ICD-10: B06 P35.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012409"">D012409</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012410"">D012410</a>
 MedlinePlus: 001574 001658","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15064032"">15064032</a>
 著者        Banatvala JE, Brown DW
 タイトル      Rubella.
 雑誌        Lancet 363:1127-37 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(04)15897-2"">10.1016/S0140-6736(04)15897-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9796387"">9796387</a>
 著者        Hinman AR, Hersh BS, de Quadros CA
 タイトル      Rational use of rubella vaccine for prevention of congenital rubella syndrome in the Americas.
 雑誌        Rev Panam Salud Publica 4:156-60 (1998)
 DOI:<a href=""https://doi.org/10.1590/s1020-49891998000900002"">10.1590/s1020-49891998000900002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16580940"">16580940</a>
 著者        De Santis M, Cavaliere AF, Straface G, Caruso A
 タイトル      Rubella infection in pregnancy.
 雑誌        Reprod Toxicol 21:390-8 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.reprotox.2005.01.014"">10.1016/j.reprotox.2005.01.014</a>"
H00396,"流行性耳下腺炎;
 おたふく風邪",,,"Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic meningitis, pediatric deafness, and orchitis.",感染症,,,Mumps virus [GN:T40034],,,乾燥弱毒生おたふくかぜワクチン [DR:D05089],,"ICD-11: 1D80
 ICD-10: B26
 MeSH: D009107
 MedlinePlus: 001557","PMID:16750064
 著者        Campos-Outcalt D
 タイトル      Mumps epidemic in 2006: are you prepared to detect and prevent it?
 雑誌        J Fam Pract 55:500-2 (2006)
 PMID:21120728
 著者        MacDonald N, Hatchette T, Elkout L, Sarwal S
 タイトル      Mumps is back: why is mumps eradication not working?
 雑誌        Adv Exp Med Biol 697:197-220 (2011)
 DOI:10.1007/978-1-4419-7185-2_14
 PMID:19815120
 著者        Barskey AE, Glasser JW, LeBaron CW
 タイトル      Mumps resurgences in the United States: A historical perspective on unexpected elements.
 雑誌        Vaccine 27:6186-95 (2009)
 DOI:10.1016/j.vaccine.2009.06.109","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00396"">H00396</a>","流行性耳下腺炎;
 おたふく風邪","Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic meningitis, pediatric deafness, and orchitis.",,,"Mumps virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40034"">T40034</a>]",,,"乾燥弱毒生おたふくかぜワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05089"">D05089</a>]",,"ICD-11: 1D80
 ICD-10: B26
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009107"">D009107</a>
 MedlinePlus: 001557","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16750064"">16750064</a>
 著者        Campos-Outcalt D
 タイトル      Mumps epidemic in 2006: are you prepared to detect and prevent it?
 雑誌        J Fam Pract 55:500-2 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21120728"">21120728</a>
 著者        MacDonald N, Hatchette T, Elkout L, Sarwal S
 タイトル      Mumps is back: why is mumps eradication not working?
 雑誌        Adv Exp Med Biol 697:197-220 (2011)
 DOI:<a href=""https://doi.org/10.1007/978-1-4419-7185-2_14"">10.1007/978-1-4419-7185-2_14</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19815120"">19815120</a>
 著者        Barskey AE, Glasser JW, LeBaron CW
 タイトル      Mumps resurgences in the United States: A historical perspective on unexpected elements.
 雑誌        Vaccine 27:6186-95 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2009.06.109"">10.1016/j.vaccine.2009.06.109</a>"
H00397,"ロスリバー熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Ross River fever is an infectious disease caused by Ross River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated in 1972 near Ross River in North Queensland, Australia.",感染症,,,Ross River virus [GN:T40071],,,,,"ICD-11: 1D4D
 ICD-10: B33.1","PMID:15923040
 著者        Rulli NE, Suhrbier A, Hueston L, Heise MT, Tupanceska D, Zaid A, Wilmes A, Gilmore K, Lidbury BA, Mahalingam S
 タイトル      Ross River virus: molecular and cellular aspects of disease pathogenesis.
 雑誌        Pharmacol Ther 107:329-42 (2005)
 DOI:10.1016/j.pharmthera.2005.03.006
 PMID:11585790
 著者        Harley D, Sleigh A, Ritchie S
 タイトル      Ross River virus transmission, infection, and disease: a cross-disciplinary review.
 雑誌        Clin Microbiol Rev 14:909-32, table of contents (2001)
 DOI:10.1128/CMR.14.4.909-932.2001
 PMID:11729067
 著者        Russell RC
 タイトル      Ross River virus: ecology and distribution.
 雑誌        Annu Rev Entomol 47:1-31 (2002)
 DOI:10.1146/annurev.ento.47.091201.145100","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00397"">H00397</a>","ロスリバー熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Ross River fever is an infectious disease caused by Ross River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated in 1972 near Ross River in North Queensland, Australia.",,,"Ross River virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40071"">T40071</a>]",,,,,"ICD-11: 1D4D
 ICD-10: B33.1","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15923040"">15923040</a>
 著者        Rulli NE, Suhrbier A, Hueston L, Heise MT, Tupanceska D, Zaid A, Wilmes A, Gilmore K, Lidbury BA, Mahalingam S
 タイトル      Ross River virus: molecular and cellular aspects of disease pathogenesis.
 雑誌        Pharmacol Ther 107:329-42 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.pharmthera.2005.03.006"">10.1016/j.pharmthera.2005.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11585790"">11585790</a>
 著者        Harley D, Sleigh A, Ritchie S
 タイトル      Ross River virus transmission, infection, and disease: a cross-disciplinary review.
 雑誌        Clin Microbiol Rev 14:909-32, table of contents (2001)
 DOI:<a href=""https://doi.org/10.1128/CMR.14.4.909-932.2001"">10.1128/CMR.14.4.909-932.2001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11729067"">11729067</a>
 著者        Russell RC
 タイトル      Ross River virus: ecology and distribution.
 雑誌        Annu Rev Entomol 47:1-31 (2002)
 DOI:<a href=""https://doi.org/10.1146/annurev.ento.47.091201.145100"">10.1146/annurev.ento.47.091201.145100</a>"
H00398,インフルエンザ,,,"Influenza is typically a self-limiting upper respiratory disease caused by three types of influenza viruses: influenza A, B, and C. Influenza A and B viruses cause highly contagious diseases whereas influenza C virus causes only mild upper respiratory tract illness. Influenza A virus is responsible for annual epidemics in humans with high mortality rates.",感染症,"nt06110  MAPK signaling (viruses and bacteria)
 nt06114  PI3K signaling (viruses)
 nt06122  IFN signaling (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06133  RLR signaling (viruses)
 nt06137  OAS/RNase L pathway (viruses)
 nt06138  PKR-eIF2alpha signaling (viruses)
 nt06139  NLR signaling (viruses and bacteria)
 nt06170  Influenza A virus (IAV)",,"Influenza A virus (A/Puerto Rico/8/1934(H1N1)) [GN:T40035]
 Influenza A virus (A/Korea/426/1968(H2N2)) [GN:T40036]
 Influenza A virus (A/New York/392/2004(H3N2)) [GN:T40037]
 Influenza A virus (A/Hong Kong/1073/99(H9N2)) [GN:T40038]
 Influenza B virus [GN:T40039]
 Influenza C virus (C/Ann Arbor/1/50) [GN:T40040]",,,"アマンタジン塩酸塩 [DR:D00777]
 麻黄湯エキス [DR:D07042]
 ザナミビル水和物 [DR:D01937]
 オセルタミビルリン酸塩 [DR:D00900]
 ペラミビル水和物 [DR:D03829]
 ラニナミビルオクタン酸エステル水和物 [DR:D09547]
 バロキサビルマルボキシル [DR:D11021]
 ファビピラビル [DR:D09537]
 インフルエンザHAワクチン [DR:D05182]",,"ICD-11: 1E30
 ICD-10: J10
 MeSH: D007251
 MedlinePlus: 000080",,"<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00398"">H00398</a>",インフルエンザ,"Influenza is typically a self-limiting upper respiratory disease caused by three types of influenza viruses: influenza A, B, and C. Influenza A and B viruses cause highly contagious diseases whereas influenza C virus causes only mild upper respiratory tract illness. Influenza A virus is responsible for annual epidemics in humans with high mortality rates.","<a href=""https://www.kegg.jp/network/nt06110"">nt06110</a>  MAPK signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06114"">nt06114</a>  PI3K signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06137"">nt06137</a>  OAS/RNase L pathway (viruses)
 <a href=""https://www.kegg.jp/network/nt06138"">nt06138</a>  PKR-eIF2alpha signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06139"">nt06139</a>  NLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06170"">nt06170</a>  Influenza A virus (IAV)",,"Influenza A virus (A/Puerto Rico/8/1934(H1N1)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40035"">T40035</a>]
 Influenza A virus (A/Korea/426/1968(H2N2)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40036"">T40036</a>]
 Influenza A virus (A/New York/392/2004(H3N2)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40037"">T40037</a>]
 Influenza A virus (A/Hong Kong/1073/99(H9N2)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40038"">T40038</a>]
 Influenza B virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40039"">T40039</a>]
 Influenza C virus (C/Ann Arbor/1/50) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40040"">T40040</a>]",,,"アマンタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00777"">D00777</a>]
 麻黄湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07042"">D07042</a>]
 ザナミビル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01937"">D01937</a>]
 オセルタミビルリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00900"">D00900</a>]
 ペラミビル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03829"">D03829</a>]
 ラニナミビルオクタン酸エステル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09547"">D09547</a>]
 バロキサビルマルボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11021"">D11021</a>]
 ファビピラビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09537"">D09537</a>]
 インフルエンザHAワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05182"">D05182</a>]",,"ICD-11: 1E30
 ICD-10: J10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007251"">D007251</a>
 MedlinePlus: 000080",
H00399,"鳥インフルエンザ;
 新型インフルエンザ (H5N1)",,,"Avian influenza is an infectious disease caused by Influenzavirus A that belongs to the genus Alphainfluenzavirus in the Orthomyxoviridae family of -ssRNA virus. Influenzavirus A viruses are species specific and rarely cross the species barrier. However, subtypes H5, H7, and H9 have caused sporadic infections in humans, mostly as a result of direct contact with infected birds. H5N1 high pathogenicity avian influenza virus causes a rapid onset of severe viral pneumonia and is highly fatal.",感染症,,,"Influenza A virus (A/goose/Guangdong/1/1996(H5N1)) [GN:T40041]
 Influenza A virus (A/Shanghai/02/2013(H7N9)) [GN:T40350]",,,"ファビピラビル [DR:D09537]
 沈降インフルエンザワクチンH5N1 [DR:D10215]",,"ICD-11: 1E31
 ICD-10: J09
 MeSH: D005585
 MedlinePlus: 007263","PMID:22129374
 著者        Chmielewski R, Swayne DE
 タイトル      Avian influenza: public health and food safety concerns.
 雑誌        Annu Rev Food Sci Technol 2:37-57 (2011)
 DOI:10.1146/annurev-food-022510-133710
 PMID:17126960
 著者        Alexander DJ
 タイトル      An overview of the epidemiology of avian influenza.
 雑誌        Vaccine 25:5637-44 (2007)
 DOI:10.1016/j.vaccine.2006.10.051","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00399"">H00399</a>","鳥インフルエンザ;
 新型インフルエンザ (H5N1)","Avian influenza is an infectious disease caused by Influenzavirus A that belongs to the genus Alphainfluenzavirus in the Orthomyxoviridae family of -ssRNA virus. Influenzavirus A viruses are species specific and rarely cross the species barrier. However, subtypes H5, H7, and H9 have caused sporadic infections in humans, mostly as a result of direct contact with infected birds. H5N1 high pathogenicity avian influenza virus causes a rapid onset of severe viral pneumonia and is highly fatal.",,,"Influenza A virus (A/goose/Guangdong/1/1996(H5N1)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40041"">T40041</a>]
 Influenza A virus (A/Shanghai/02/2013(H7N9)) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40350"">T40350</a>]",,,"ファビピラビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09537"">D09537</a>]
 沈降インフルエンザワクチンH5N1 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10215"">D10215</a>]",,"ICD-11: 1E31
 ICD-10: J09
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005585"">D005585</a>
 MedlinePlus: 007263","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22129374"">22129374</a>
 著者        Chmielewski R, Swayne DE
 タイトル      Avian influenza: public health and food safety concerns.
 雑誌        Annu Rev Food Sci Technol 2:37-57 (2011)
 DOI:<a href=""https://doi.org/10.1146/annurev-food-022510-133710"">10.1146/annurev-food-022510-133710</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17126960"">17126960</a>
 著者        Alexander DJ
 タイトル      An overview of the epidemiology of avian influenza.
 雑誌        Vaccine 25:5637-44 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2006.10.051"">10.1016/j.vaccine.2006.10.051</a>"
H00400,パラインフルエンザ感染症,,,"Human parainfluenza viruses (HPIV) are single-stranded RNA viruses belonging to the paramyxovirus family. They are the second most common causes of pediatric lower respiratory tract disease leading to hospitalization after respiratory syncytial virus. It can cause repeated infections throughout life, causing flu-like illness.",感染症,,,"Human parainfluenza virus 1 [GN:T40043]
 Human parainfluenza virus 2 [GN:T40042]
 Human parainfluenza virus 3 [GN:T40044]
 Human parainfluenza virus 4 [GN:T40122]",,,,,"ICD-11: CA40.12 CA42.3
 ICD-10: J12.2 J20.4
 MeSH: D018184","PMID:21859271 (description, env_factor)
 著者        Schmidt AC, Schaap-Nutt A, Bartlett EJ, Schomacker H, Boonyaratanakornkit J, Karron RA, Collins PL
 タイトル      Progress in the development of human parainfluenza virus vaccines.
 雑誌        Expert Rev Respir Med 5:515-26 (2011)
 DOI:10.1586/ers.11.32
 PMID:18820572
 著者        Sato M, Wright PF
 タイトル      Current status of vaccines for parainfluenza virus infections.
 雑誌        Pediatr Infect Dis J 27:S123-5 (2008)
 DOI:10.1097/INF.0b013e318168b76f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00400"">H00400</a>",パラインフルエンザ感染症,"Human parainfluenza viruses (HPIV) are single-stranded RNA viruses belonging to the paramyxovirus family. They are the second most common causes of pediatric lower respiratory tract disease leading to hospitalization after respiratory syncytial virus. It can cause repeated infections throughout life, causing flu-like illness.",,,"Human parainfluenza virus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40043"">T40043</a>]
 Human parainfluenza virus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40042"">T40042</a>]
 Human parainfluenza virus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40044"">T40044</a>]
 Human parainfluenza virus 4 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40122"">T40122</a>]",,,,,"ICD-11: CA40.12 CA42.3
 ICD-10: J12.2 J20.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018184"">D018184</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21859271"">21859271</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Schmidt AC, Schaap-Nutt A, Bartlett EJ, Schomacker H, Boonyaratanakornkit J, Karron RA, Collins PL
 タイトル      Progress in the development of human parainfluenza virus vaccines.
 雑誌        Expert Rev Respir Med 5:515-26 (2011)
 DOI:<a href=""https://doi.org/10.1586/ers.11.32"">10.1586/ers.11.32</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18820572"">18820572</a>
 著者        Sato M, Wright PF
 タイトル      Current status of vaccines for parainfluenza virus infections.
 雑誌        Pediatr Infect Dis J 27:S123-5 (2008)
 DOI:<a href=""https://doi.org/10.1097/INF.0b013e318168b76f"">10.1097/INF.0b013e318168b76f</a>"
H00401,RSウイルス感染症,,,"Respiratory syncytial virus (RSV) of the Paramyxoviridae family is a major cause of acute lower respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered half a century ago, no effective treatment for the infection exists.",感染症,,,Human respiratory syncytial virus [GN:T40045],,,パリビズマブ [DR:D02737],,"ICD-11: CA40.11 CA41.0 CA42.2
 ICD-10: J12.1 J20.5 J21.0
 MeSH: D018357
 MedlinePlus: 001564","PMID:21171875
 著者        Krilov LR
 タイトル      Respiratory syncytial virus disease: update on treatment and prevention.
 雑誌        Expert Rev Anti Infect Ther 9:27-32 (2011)
 DOI:10.1586/eri.10.140
 PMID:21963675
 著者        Collins PL, Melero JA
 タイトル      Progress in understanding and controlling respiratory syncytial virus: still crazy after all these years.
 雑誌        Virus Res 162:80-99 (2011)
 DOI:10.1016/j.virusres.2011.09.020
 PMID:21524347
 著者        Chang J
 タイトル      Current progress on development of respiratory syncytial virus vaccine.
 雑誌        BMB Rep 44:232-7 (2011)
 DOI:10.5483/BMBRep.2011.44.4.232","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00401"">H00401</a>",RSウイルス感染症,"Respiratory syncytial virus (RSV) of the Paramyxoviridae family is a major cause of acute lower respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered half a century ago, no effective treatment for the infection exists.",,,"Human respiratory syncytial virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40045"">T40045</a>]",,,"パリビズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02737"">D02737</a>]",,"ICD-11: CA40.11 CA41.0 CA42.2
 ICD-10: J12.1 J20.5 J21.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018357"">D018357</a>
 MedlinePlus: 001564","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21171875"">21171875</a>
 著者        Krilov LR
 タイトル      Respiratory syncytial virus disease: update on treatment and prevention.
 雑誌        Expert Rev Anti Infect Ther 9:27-32 (2011)
 DOI:<a href=""https://doi.org/10.1586/eri.10.140"">10.1586/eri.10.140</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21963675"">21963675</a>
 著者        Collins PL, Melero JA
 タイトル      Progress in understanding and controlling respiratory syncytial virus: still crazy after all these years.
 雑誌        Virus Res 162:80-99 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.virusres.2011.09.020"">10.1016/j.virusres.2011.09.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21524347"">21524347</a>
 著者        Chang J
 タイトル      Current progress on development of respiratory syncytial virus vaccine.
 雑誌        BMB Rep 44:232-7 (2011)
 DOI:<a href=""https://doi.org/10.5483/BMBRep.2011.44.4.232"">10.5483/BMBRep.2011.44.4.232</a>"
H00402,重症急性呼吸器症候群,,,Severe acute respiratory syndrome (SARS) is a viral respiratory illness caused by SARS coronavirus. SARS first emerged in 2002 and gained global from 2002 to 2003. The main mode of transmission of SARS coronavirus is person-to-person spread through inhalation of respiratory droplets.,感染症,,,SARS coronavirus [GN:T40069],,,,,"ICD-11: 1D65
 ICD-10: U04
 MeSH: D045169
 MedlinePlus: 007192","PMID:20801001
 著者        Anderson LJ, Tong S
 タイトル      Update on SARS research and other possibly zoonotic coronaviruses.
 雑誌        Int J Antimicrob Agents 36 Suppl 1:S21-5 (2010)
 DOI:10.1016/j.ijantimicag.2010.06.016
 PMID:22094080
 著者        Weiss SR, Leibowitz JL
 タイトル      Coronavirus pathogenesis.
 雑誌        Adv Virus Res 81:85-164 (2011)
 DOI:10.1016/B978-0-12-385885-6.00009-2
 PMID:20674795
 著者        Hui DS, Chan PK
 タイトル      Severe acute respiratory syndrome and coronavirus.
 雑誌        Infect Dis Clin North Am 24:619-38 (2010)
 DOI:10.1016/j.idc.2010.04.009
 PMID:31668196
 著者        Hui DSC, Zumla A
 タイトル      Severe Acute Respiratory Syndrome: Historical, Epidemiologic, and Clinical Features.
 雑誌        Infect Dis Clin North Am 33:869-889 (2019)
 DOI:10.1016/j.idc.2019.07.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00402"">H00402</a>",重症急性呼吸器症候群,Severe acute respiratory syndrome (SARS) is a viral respiratory illness caused by SARS coronavirus. SARS first emerged in 2002 and gained global from 2002 to 2003. The main mode of transmission of SARS coronavirus is person-to-person spread through inhalation of respiratory droplets.,,,"SARS coronavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40069"">T40069</a>]",,,,,"ICD-11: 1D65
 ICD-10: U04
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045169"">D045169</a>
 MedlinePlus: 007192","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20801001"">20801001</a>
 著者        Anderson LJ, Tong S
 タイトル      Update on SARS research and other possibly zoonotic coronaviruses.
 雑誌        Int J Antimicrob Agents 36 Suppl 1:S21-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ijantimicag.2010.06.016"">10.1016/j.ijantimicag.2010.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22094080"">22094080</a>
 著者        Weiss SR, Leibowitz JL
 タイトル      Coronavirus pathogenesis.
 雑誌        Adv Virus Res 81:85-164 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-12-385885-6.00009-2"">10.1016/B978-0-12-385885-6.00009-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20674795"">20674795</a>
 著者        Hui DS, Chan PK
 タイトル      Severe acute respiratory syndrome and coronavirus.
 雑誌        Infect Dis Clin North Am 24:619-38 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2010.04.009"">10.1016/j.idc.2010.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31668196"">31668196</a>
 著者        Hui DSC, Zumla A
 タイトル      Severe Acute Respiratory Syndrome: Historical, Epidemiologic, and Clinical Features.
 雑誌        Infect Dis Clin North Am 33:869-889 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2019.07.001"">10.1016/j.idc.2019.07.001</a>"
H00403,"ヌクレオチド除去修復機構異常疾患
 下位グループ    色素性乾皮症 [DS:H01428]
 コケイン症候群 [DS:H00076]
 紫外線高感受性症候群 [DS:H02131]
 裂毛症 [DS:H00866]
 White-Kernohan 症候群 [DS:H02560]
 脳・眼・顔・骨格症候群
 XFE 早老症候群",,,"Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight genetic complementation groups by the present. In this inside, 7groups from the XP-A group to the G group show the abnormality in NER. The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). Some patients of XP- A develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome, associated with mutations in the ERCC6 gene. CS is caused by mutations in ERCC8/CSA, ERCC6/CSB. CS is predominantly a developmental and neurological disorder. It results in a severely reduced lifespan but is not linked to an increased incidence of cancer. The three of the XP genes (ERCC2, ERCC3, and ERCC5) are also found to be mutated XP/CS patients (exhibiting both XP and Cockayne's symptoms). ERCC6 is a cause of UV-sensitive syndrome (UVS) which is characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. TTD is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.",先天奇形,,"(XPA) XPA [HSA:7507] [KO:K10847]
 (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
 (XPC) XPC [HSA:7508] [KO:K10838]
 (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
 (XPE) DDB2 [HSA:1643] [KO:K10140]
 (XPE-2) DDB1 [HSA:1642] [KO:K10610]
 (XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
 (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
 (XPV) POLH [HSA:5429] [KO:K03509]
 (CSA) ERCC8 [HSA:1161] [KO:K10570]
 (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
 (TTD) GTF2H5 [HSA:404672] [KO:K10845]
 (COFS4) ERCC1 [HSA:2067] [KO:K10849]",,,,,Disorder of DNA repair system,"ICD-10: Q87
 MeSH: D014983 D003057 C563466 D054463
 OMIM: 278700 610651 278720 278730 278740 278760 278780 278750 216400 133540 278800 600630 601675 214150 610756 610758 610965","PMID:19809470
 著者        Cleaver JE, Lam ET, Revet I
 タイトル      Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
 雑誌        Nat Rev Genet 10:756-68 (2009)
 DOI:10.1038/nrg2663
 PMID:11710928 (XP and TTD)
 著者        Queille S, Drougard C, Sarasin A, Daya-Grosjean L
 タイトル      Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
 雑誌        J Invest Dermatol 117:1162-70 (2001)
 DOI:10.1046/j.0022-202x.2001.01533.x
 PMID:11443545 (COFS)
 著者        Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
 タイトル      Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
 雑誌        Am J Hum Genet 69:291-300 (2001)
 DOI:10.1086/321295
 PMID:15220921 (TTD)
 著者        Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W
 タイトル      A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
 雑誌        Nat Genet 36:714-9 (2004)
 DOI:10.1038/ng1387
 PMID:18339586 (TTD and CS)
 著者        Brooks PJ, Cheng TF, Cooper L
 タイトル      Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
 雑誌        DNA Repair (Amst) 7:834-48 (2008)
 DOI:10.1016/j.dnarep.2008.01.017
 PMID:20221251 (XFE progeroid syndrome)
 著者        Ahmad A, Enzlin JH, Bhagwat NR, Wijgers N, Raams A, Appledoorn E, Theil AF, J Hoeijmakers JH, Vermeulen W, J Jaspers NG, Scharer OD, Niedernhofer LJ
 タイトル      Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
 雑誌        PLoS Genet 6:e1000871 (2010)
 DOI:10.1371/journal.pgen.1000871","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>","ヌクレオチド除去修復機構異常疾患
 下位グループ    色素性乾皮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01428"">H01428</a>]
 コケイン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00076"">H00076</a>]
 紫外線高感受性症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02131"">H02131</a>]
 裂毛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00866"">H00866</a>]
 White-Kernohan 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02560"">H02560</a>]
 脳・眼・顔・骨格症候群
 XFE 早老症候群","Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight genetic complementation groups by the present. In this inside, 7groups from the XP-A group to the G group show the abnormality in NER. The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). Some patients of XP- A develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome, associated with mutations in the ERCC6 gene. CS is caused by mutations in ERCC8/CSA, ERCC6/CSB. CS is predominantly a developmental and neurological disorder. It results in a severely reduced lifespan but is not linked to an increased incidence of cancer. The three of the XP genes (ERCC2, ERCC3, and ERCC5) are also found to be mutated XP/CS patients (exhibiting both XP and Cockayne's symptoms). ERCC6 is a cause of UV-sensitive syndrome (UVS) which is characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. TTD is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.",,"(XPA) XPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7507"">7507</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10847"">K10847</a>]
 (XPB/CS, TTD) ERCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2071"">2071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10843"">K10843</a>]
 (XPC) XPC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7508"">7508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10838"">K10838</a>]
 (XPD, TTD) ERCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2068"">2068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10844"">K10844</a>]
 (XPE) DDB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1643"">1643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10140"">K10140</a>]
 (XPE-2) DDB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1642"">1642</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10610"">K10610</a>]
 (XPF/CS) ERCC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2072"">2072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10848"">K10848</a>]
 (XPG/CS, COFS3) ERCC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2073"">2073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10846"">K10846</a>]
 (XPV) POLH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5429"">5429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03509"">K03509</a>]
 (CSA) ERCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1161"">1161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10570"">K10570</a>]
 (CSB, DSC, UVS, COFS1) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (TTD) GTF2H5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:404672"">404672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10845"">K10845</a>]
 (COFS4) ERCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2067"">2067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10849"">K10849</a>]",,,,,Disorder of DNA repair system,"ICD-10: Q87
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014983"">D014983</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003057"">D003057</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563466"">C563466</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054463"">D054463</a>
 OMIM: <a href=""https://www.omim.org/entry/278700"">278700</a> <a href=""https://www.omim.org/entry/610651"">610651</a> <a href=""https://www.omim.org/entry/278720"">278720</a> <a href=""https://www.omim.org/entry/278730"">278730</a> <a href=""https://www.omim.org/entry/278740"">278740</a> <a href=""https://www.omim.org/entry/278760"">278760</a> <a href=""https://www.omim.org/entry/278780"">278780</a> <a href=""https://www.omim.org/entry/278750"">278750</a> <a href=""https://www.omim.org/entry/216400"">216400</a> <a href=""https://www.omim.org/entry/133540"">133540</a> <a href=""https://www.omim.org/entry/278800"">278800</a> <a href=""https://www.omim.org/entry/600630"">600630</a> <a href=""https://www.omim.org/entry/601675"">601675</a> <a href=""https://www.omim.org/entry/214150"">214150</a> <a href=""https://www.omim.org/entry/610756"">610756</a> <a href=""https://www.omim.org/entry/610758"">610758</a> <a href=""https://www.omim.org/entry/610965"">610965</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19809470"">19809470</a>
 著者        Cleaver JE, Lam ET, Revet I
 タイトル      Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
 雑誌        Nat Rev Genet 10:756-68 (2009)
 DOI:<a href=""https://doi.org/10.1038/nrg2663"">10.1038/nrg2663</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11710928"">11710928</a> (XP <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TTD)"">TTD)</a>
 著者        Queille S, Drougard C, Sarasin A, Daya-Grosjean L
 タイトル      Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
 雑誌        J Invest Dermatol 117:1162-70 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.0022-202x.2001.01533.x"">10.1046/j.0022-202x.2001.01533.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11443545"">11443545</a> (COFS)
 著者        Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
 タイトル      Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
 雑誌        Am J Hum Genet 69:291-300 (2001)
 DOI:<a href=""https://doi.org/10.1086/321295"">10.1086/321295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15220921"">15220921</a> (TTD)
 著者        Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W
 タイトル      A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
 雑誌        Nat Genet 36:714-9 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1387"">10.1038/ng1387</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18339586"">18339586</a> (TTD <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CS)"">CS)</a>
 著者        Brooks PJ, Cheng TF, Cooper L
 タイトル      Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
 雑誌        DNA Repair (Amst) 7:834-48 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.dnarep.2008.01.017"">10.1016/j.dnarep.2008.01.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20221251"">20221251</a> (XFE <a href=""https://pubmed.ncbi.nlm.nih.gov/progeroid"">progeroid</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/syndrome)"">syndrome)</a>
 著者        Ahmad A, Enzlin JH, Bhagwat NR, Wijgers N, Raams A, Appledoorn E, Theil AF, J Hoeijmakers JH, Vermeulen W, J Jaspers NG, Scharer OD, Niedernhofer LJ
 タイトル      Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
 雑誌        PLoS Genet 6:e1000871 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1000871"">10.1371/journal.pgen.1000871</a>"
H00404,"伝染性紅斑;
 第五病;
 リンゴ病",,,"Erythema infectiosum, or fifth disease, is a benign pediatric condition caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent children. Parvovirus B 19 also causes a wide range of clinical complications, including thrombocytopenia and neurological manifestations in immunocompromised patients and intrauterine fetal death in primary infected pregnant women.",感染症,,,Human parvovirus B19 [GN:T40084],,,,,"ICD-11: 1F04
 ICD-10: B08.3
 MeSH: D016731
 MedlinePlus: 000977","PMID:16502203
 著者        Vafaie J, Schwartz RA
 タイトル      Erythema infectiosum.
 雑誌        J Cutan Med Surg 9:159-61 (2005)
 DOI:10.1177/120347540500900401
 PMID:16961667
 著者        Broliden K, Tolfvenstam T, Norbeck O
 タイトル      Clinical aspects of parvovirus B19 infection.
 雑誌        J Intern Med 260:285-304 (2006)
 DOI:10.1111/j.1365-2796.2006.01697.x
 PMID:21351281
 著者        de Jong EP, Walther FJ, Kroes AC, Oepkes D
 タイトル      Parvovirus B19 infection in pregnancy: new insights and management.
 雑誌        Prenat Diagn 31:419-25 (2011)
 DOI:10.1002/pd.2714","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00404"">H00404</a>","伝染性紅斑;
 第五病;
 リンゴ病","Erythema infectiosum, or fifth disease, is a benign pediatric condition caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent children. Parvovirus B 19 also causes a wide range of clinical complications, including thrombocytopenia and neurological manifestations in immunocompromised patients and intrauterine fetal death in primary infected pregnant women.",,,"Human parvovirus B19 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40084"">T40084</a>]",,,,,"ICD-11: 1F04
 ICD-10: B08.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016731"">D016731</a>
 MedlinePlus: 000977","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16502203"">16502203</a>
 著者        Vafaie J, Schwartz RA
 タイトル      Erythema infectiosum.
 雑誌        J Cutan Med Surg 9:159-61 (2005)
 DOI:<a href=""https://doi.org/10.1177/120347540500900401"">10.1177/120347540500900401</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16961667"">16961667</a>
 著者        Broliden K, Tolfvenstam T, Norbeck O
 タイトル      Clinical aspects of parvovirus B19 infection.
 雑誌        J Intern Med 260:285-304 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2796.2006.01697.x"">10.1111/j.1365-2796.2006.01697.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21351281"">21351281</a>
 著者        de Jong EP, Walther FJ, Kroes AC, Oepkes D
 タイトル      Parvovirus B19 infection in pregnancy: new insights and management.
 雑誌        Prenat Diagn 31:419-25 (2011)
 DOI:<a href=""https://doi.org/10.1002/pd.2714"">10.1002/pd.2714</a>"
H00405,"マールブルグ病;
 マールブルグ出血熱",,,Marburg disease is a severe infectious disease caused by marburgviruses within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered in 1967 in Germany.,感染症,,,Marburg marburgvirus [GN:T40015],,,,,"ICD-11: 1D60.1
 ICD-10: A98.3
 MeSH: D008379","PMID:21722250
 著者        Leroy EM, Gonzalez JP, Baize S
 タイトル      Ebola and Marburg haemorrhagic fever viruses: major scientific advances, but a relatively minor public health threat for Africa.
 雑誌        Clin Microbiol Infect 17:964-76 (2011)
 DOI:10.1111/j.1469-0691.2011.03535.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00405"">H00405</a>","マールブルグ病;
 マールブルグ出血熱",Marburg disease is a severe infectious disease caused by marburgviruses within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered in 1967 in Germany.,,,"Marburg marburgvirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40015"">T40015</a>]",,,,,"ICD-11: 1D60.1
 ICD-10: A98.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008379"">D008379</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21722250"">21722250</a>
 著者        Leroy EM, Gonzalez JP, Baize S
 タイトル      Ebola and Marburg haemorrhagic fever viruses: major scientific advances, but a relatively minor public health threat for Africa.
 雑誌        Clin Microbiol Infect 17:964-76 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2011.03535.x"">10.1111/j.1469-0691.2011.03535.x</a>"
H00406,"後天性免疫不全症候群 (AIDS);
 エイズ",,,"Since the discovery in 1980s, HIV/AIDS has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS can be ascribed to the profound immune deficiency in patients. HIV infection also increases the risk of autoimmune diseases and malignancies such as non-Hodgkin's lymphoma and Kaposi's sarcoma.",感染症; 免疫系疾患,nt06161  Human immunodeficiency virus type 1 (HIV-1),,"Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
 Human immunodeficiency virus 2 (HIV-2) [GN:T40002]",,,,,"ICD-11: 4A20
 ICD-10: B20 B21 B22 B23 B24","PMID:22303636
 著者        Duesberg PH, Mandrioli D, McCormack A, Nicholson JM, Rasnick D, Fiala C, Koehnlein C, Bauer HH, Ruggiero M
 タイトル      AIDS since 1984: no evidence for a new, viral epidemic--not even in Africa.
 雑誌        Ital J Anat Embryol 116:73-92 (2011)
 DOI:10.13128/IJAE-10336","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00406"">H00406</a>","後天性免疫不全症候群 (AIDS);
 エイズ","Since the discovery in 1980s, HIV/AIDS has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS can be ascribed to the profound immune deficiency in patients. HIV infection also increases the risk of autoimmune diseases and malignancies such as non-Hodgkin's lymphoma and Kaposi's sarcoma.","<a href=""https://www.kegg.jp/network/nt06161"">nt06161</a>  Human immunodeficiency virus type 1 (HIV-1)",,"Human immunodeficiency virus 1 (HIV-1) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40001"">T40001</a>]
 Human immunodeficiency virus 2 (HIV-2) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40002"">T40002</a>]",,,,,"ICD-11: 4A20
 ICD-10: B20 B21 B22 B23 B24","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22303636"">22303636</a>
 著者        Duesberg PH, Mandrioli D, McCormack A, Nicholson JM, Rasnick D, Fiala C, Koehnlein C, Bauer HH, Ruggiero M
 タイトル      AIDS since 1984: no evidence for a new, viral epidemic--not even in Africa.
 雑誌        Ital J Anat Embryol 116:73-92 (2011)
 DOI:<a href=""https://doi.org/10.13128/IJAE-10336"">10.13128/IJAE-10336</a>"
H00407,"ペルオキシソームβ酸化系酵素欠損症
 下位グループ    アシル‐CoAオキシダーゼ (AOX) 欠損症 [DS:H02096]
 D-二頭酵素 (DBP) 欠損症 [DS:H02098]
 2-メチルアシル-CoAラセマーゼ欠損症 [DS:H02099]
 ステロールキャリアプロテイン 2 欠損症 [DS:H00874]",,,"Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types of fatty acids including very-long-chain fatty acids (VLCFA), branched-chain fatty acid, and the bile acid synthesis intermediates, rely fully on peroxisomes for beta-oxidation. The enzyme defects result in the accumulation of these fatty acids in many organs. The clinical manifestations mimic those of the Zellweger syndrome spectrum. [DS:H00205]",先天性代謝異常症,nt06021  beta-Oxidation in peroxisome,"ACOX1 [HSA:51] [KO:K00232]
 HSD17B4 [HSA:3295] [KO:K12405]
 AMACR [HSA:23600] [KO:K01796]
 SCP2 [HSA:6342] [KO:K08764]",,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: C536662 C536663 C565768 C566654
 OMIM: 264470 261515 614307 613724","PMID:17347916
 著者        Shimozawa N
 タイトル      Molecular and clinical aspects of peroxisomal diseases.
 雑誌        J Inherit Metab Dis 30:193-7 (2007)
 DOI:10.1007/s10545-007-0516-z
 PMID:16376506
 著者        Funato M, Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Imamura Y, Matsumoto T, Tsukamoto T, Kojidani T, Osumi T, Fukao T, Kondo N
 タイトル      Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
 雑誌        Brain Dev 28:287-92 (2006)
 DOI:10.1016/j.braindev.2005.10.010
 PMID:20064629
 著者        Wanders RJ, Ferdinandusse S, Brites P, Kemp S
 タイトル      Peroxisomes, lipid metabolism and lipotoxicity.
 雑誌        Biochim Biophys Acta 1801:272-80 (2010)
 DOI:10.1016/j.bbalip.2010.01.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00407"">H00407</a>","ペルオキシソームβ酸化系酵素欠損症
 下位グループ    アシル‐CoAオキシダーゼ (AOX) 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02096"">H02096</a>]
 D-二頭酵素 (DBP) 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02098"">H02098</a>]
 2-メチルアシル-CoAラセマーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02099"">H02099</a>]
 ステロールキャリアプロテイン 2 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00874"">H00874</a>]","Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types of fatty acids including very-long-chain fatty acids (VLCFA), branched-chain fatty acid, and the bile acid synthesis intermediates, rely fully on peroxisomes for beta-oxidation. The enzyme defects result in the accumulation of these fatty acids in many organs. The clinical manifestations mimic those of the Zellweger syndrome spectrum. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]","<a href=""https://www.kegg.jp/network/nt06021"">nt06021</a>  beta-Oxidation in peroxisome","ACOX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51"">51</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00232"">K00232</a>]
 HSD17B4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3295"">3295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12405"">K12405</a>]
 AMACR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23600"">23600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01796"">K01796</a>]
 SCP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6342"">6342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08764"">K08764</a>]",,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536662"">C536662</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536663"">C536663</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565768"">C565768</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566654"">C566654</a>
 OMIM: <a href=""https://www.omim.org/entry/264470"">264470</a> <a href=""https://www.omim.org/entry/261515"">261515</a> <a href=""https://www.omim.org/entry/614307"">614307</a> <a href=""https://www.omim.org/entry/613724"">613724</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17347916"">17347916</a>
 著者        Shimozawa N
 タイトル      Molecular and clinical aspects of peroxisomal diseases.
 雑誌        J Inherit Metab Dis 30:193-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0516-z"">10.1007/s10545-007-0516-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16376506"">16376506</a>
 著者        Funato M, Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Imamura Y, Matsumoto T, Tsukamoto T, Kojidani T, Osumi T, Fukao T, Kondo N
 タイトル      Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
 雑誌        Brain Dev 28:287-92 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2005.10.010"">10.1016/j.braindev.2005.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20064629"">20064629</a>
 著者        Wanders RJ, Ferdinandusse S, Brites P, Kemp S
 タイトル      Peroxisomes, lipid metabolism and lipotoxicity.
 雑誌        Biochim Biophys Acta 1801:272-80 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2010.01.001"">10.1016/j.bbalip.2010.01.001</a>"
H00408,1型糖尿病,,,"The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.",代謝疾患; 免疫系疾患; 内分泌系疾患,,"(T1D2) INS [HSA:3630] [KO:K04526]
 (T1D5) SUMO4 [HSA:387082] [KO:K12160]
 (T1D10) IL2RA [HSA:3559] [KO:K05068]
 (T1D12) CTLA4 [HSA:1493] [KO:K06538]
 (T1D20) HNF1A [HSA:6927] [KO:K08036]
 (T1D22) CCR5 [HSA:1234] [KO:K04180]
 HLA-DRB1 [HSA:3123] [KO:K06752]
 HLA-DQB1 [HSA:3119] [KO:K06752]
 HLA-DQA1 [HSA:3117] [KO:K06752]
 PTPN22 [HSA:26191] [KO:K18024]
 PTPN2 [HSA:5771] [KO:K18026]
 ERBB3 [HSA:2065] [KO:K05084]
 IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434]
 IFIH1 [HSA:64135] [KO:K12647]
 CLEC16A [HSA:23274] [KO:K19513]
 BACH2 [HSA:60468] [KO:K09042]
 CTSH [HSA:1512] [KO:K01366]
 SH2B3 [HSA:10019] [KO:K12459]
 C12orf30 [HSA:80018] [KO:K17973]
 CD226 [HSA:10666] [KO:K06567]
 ITPR3 [HSA:3710] [KO:K04960]
 CYP27B1 [HSA:1594] [KO:K07438]",,"Cow's milk proteins
 Deficiency of vitamin D
 N-Nitroso compounds",,"ダパグリフロジンプロピレングリコール水和物 [DR:D09763]
 インスリン ヒト [DR:D03230]
 インスリンリスプロ [DR:D04477]
 インスリンアスパルト [DR:D04475]
 インスリングルリジン [DR:D04540]
 インスリンデグルデク・インスリンアスパルト [DR:D10570]
 インスリングラルギン [DR:D03250]
 インスリンデテミル [DR:D04539]
 インスリンデグルデク [DR:D09727]
 マルトース水和物 [DR:D05373]
 キシリトール [DR:D00061]
 アカルボース [DR:D00216]
 ミグリトール [DR:D00625]
 ボグリボース [DR:D01665]
 イプラグリフロジンL-プロリン [DR:D10200]",,"ICD-11: 5A10
 ICD-10: E10
 MeSH: D003922
 OMIM: 125852 600320 601942 601388 612520 612522 222100","PMID:19369670
 著者        Concannon P, Rich SS, Nepom GT
 タイトル      Genetics of type 1A diabetes.
 雑誌        N Engl J Med 360:1646-54 (2009)
 DOI:10.1056/NEJMra0808284
 PMID:18482868
 著者        Ounissi-Benkalha H, Polychronakos C
 タイトル      The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
 雑誌        Trends Mol Med 14:268-75 (2008)
 DOI:10.1016/j.molmed.2008.04.002
 PMID:18192540 (INS)
 著者        Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR
 タイトル      Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
 雑誌        Diabetes 57:1131-5 (2008)
 DOI:10.2337/db07-1467
 PMID:15247916 (SUMO4)
 著者        Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY
 タイトル      A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes.
 雑誌        Nat Genet 36:837-41 (2004)
 DOI:10.1038/ng1391
 PMID:15776395 (IL2RA)
 著者        Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA
 タイトル      Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.
 雑誌        Am J Hum Genet 76:773-9 (2005)
 DOI:10.1086/429843
 PMID:8817351 (CTLA4)
 著者        Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA
 タイトル      The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry.
 雑誌        Hum Mol Genet 5:1075-80 (1996)
 DOI:10.1093/hmg/5.7.1075
 PMID:9313763 (HNF1A)
 著者        Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J
 タイトル      Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
 雑誌        Diabetes 46:1643-7 (1997)
 DOI:10.2337/diacare.46.10.1643
 PMID:19073967 (CCR5)
 著者        Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA
 タイトル      Shared and distinct genetic variants in type 1 diabetes and celiac disease.
 雑誌        N Engl J Med 359:2767-77 (2008)
 DOI:10.1056/NEJMoa0807917
 PMID:22106694 (HLA-DRB1 HLA-DQB1 HLA-DQA1)
 著者        Rohana AG, Loh KC, Tin SK, Soh CH, Nazaimoon WM, Fong KY, Azmi KN, Khalid BA
 タイトル      HLA-DQA1, -DQB1 and -DRB1 gene polymorphism--in Malay type 1 diabetes mellitus patients and their use for risk prediction.
 雑誌        Med J Malaysia 66:133-7 (2011)
 PMID:25729936 (PTPN22)
 著者        Liu HW, Xu RY, Sun RP, Wang Q, Liu JL, Ge W, Yu Z
 タイトル      Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents.
 雑誌        Genet Mol Res 14:63-8 (2015)
 DOI:10.4238/2015.January.15.8
 PMID:26344020 (PTPN2)
 著者        Peng H, Li J, Chen X, Zhou X, Zhu W, Li F
 タイトル      Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus.
 雑誌        Med Sci Monit 21:2653-8 (2015)
 DOI:10.12659/MSM.893607
 PMID:29109006 (ERBB3)
 著者        Lemos NE, Dieter C, Dorfman LE, Assmann TS, Duarte GCK, Canani LH, Bauer AC, Crispim D
 タイトル      The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population.
 雑誌        Gene 644:122-128 (2018)
 DOI:10.1016/j.gene.2017.11.009
 PMID:34328597 (IL2 IL21)
 著者        Khalil RG, Abdel-Moneim A, Yousef AI, Abdel-Rahman H, Zanaty MI, El-Sayed A
 タイトル      Association of interleukin-2, interleukin-21 and interleukin-23 with hyperlipidemia in pediatric type 1 diabetes.
 雑誌        Mol Biol Rep 48:5421-5433 (2021)
 DOI:10.1007/s11033-021-06545-0
 PMID:28929635 (IFIH1)
 著者        Jermendy A, Szatmari I, Korner A, Szabo AJ, Toth-Heyn P, Hermann R
 タイトル      Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus.
 雑誌        Pediatr Diabetes 19:300-304 (2018)
 DOI:10.1111/pedi.12569
 PMID:31570815 (CLEC16A)
 著者        Gingerich MA, Sidarala V, Soleimanpour SA
 タイトル      Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI.
 雑誌        Genes Immun 21:79-82 (2020)
 DOI:10.1038/s41435-019-0087-7
 PMID:32236312 (BACH2)
 著者        Dieter C, Lemos NE, Dorfman LE, Duarte GCK, Assmann TS, Crispim D
 タイトル      The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population.
 雑誌        Arch Endocrinol Metab 64:138-143 (2020)
 DOI:10.20945/2359-3997000000214
 PMID:24982147 (CTSH)
 著者        Floyel T, Brorsson C, Nielsen LB, Miani M, Bang-Berthelsen CH, Friedrichsen M, Overgaard AJ, Berchtold LA, Wiberg A, Poulsen P, Hansen L, Rosinger S, Boehm BO, Ram R, Nguyen Q, Mehta M, Morahan G, Concannon P, Bergholdt R, Nielsen JH, Reinheckel T, von Herrath M, Vaag A, Eizirik DL, Mortensen HB, Storling J, Pociot F
 タイトル      CTSH regulates beta-cell function and disease progression in newly diagnosed type 1 diabetes patients.
 雑誌        Proc Natl Acad Sci U S A 111:10305-10 (2014)
 DOI:10.1073/pnas.1402571111
 PMID:20546165 (SH2B3)
 著者        Lavrikova EY, Nikitin AG, Kuraeva TL, Peterkova VA, Tsitlidze NM, Chistiakov DA, Nosikov VV
 タイトル      The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.
 雑誌        Pediatr Diabetes 12:127-32 (2011)
 DOI:10.1111/j.1399-5448.2010.00656.x
 PMID:20089178 (PTPN22 C12orf30 CD226)
 著者        Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R
 タイトル      Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
 雑誌        BMC Med Genet 11:11 (2010)
 DOI:10.1186/1471-2350-11-11
 PMID:30145014 (CD226)
 著者        Abu El-Ella SS, Khattab ESAEH, El-Mekkawy MS, El-Shamy AA
 タイトル      CD226 gene polymorphism (rs763361 C>T) is associated with susceptibility to type 1 diabetes mellitus among Egyptian children.
 雑誌        Arch Pediatr 25:378-382 (2018)
 DOI:10.1016/j.arcped.2018.06.009
 PMID:18340361 (ITPR3)
 著者        Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C
 タイトル      The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II.
 雑誌        Genes Immun 9:264-6 (2008)
 DOI:10.1038/gene.2008.12
 PMID:15225764 (CYP27B1)
 著者        Lopez ER, Regulla K, Pani MA, Krause M, Usadel KH, Badenhoop K
 タイトル      CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans.
 雑誌        J Steroid Biochem Mol Biol 89-90:155-7 (2004)
 DOI:10.1016/j.jsbmb.2004.03.095","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00408"">H00408</a>",1型糖尿病,"The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.",,"(T1D2) INS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3630"">3630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04526"">K04526</a>]
 (T1D5) SUMO4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387082"">387082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12160"">K12160</a>]
 (T1D10) IL2RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3559"">3559</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05068"">K05068</a>]
 (T1D12) CTLA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]
 (T1D20) HNF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6927"">6927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08036"">K08036</a>]
 (T1D22) CCR5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1234"">1234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04180"">K04180</a>]
 HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 PTPN22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26191"">26191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18024"">K18024</a>]
 PTPN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5771"">5771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18026"">K18026</a>]
 ERBB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2065"">2065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05084"">K05084</a>]
 IL2 - IL21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3558"">3558</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59067"">59067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05429"">K05429</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05434"">K05434</a>]
 IFIH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64135"">64135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12647"">K12647</a>]
 CLEC16A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23274"">23274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19513"">K19513</a>]
 BACH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60468"">60468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09042"">K09042</a>]
 CTSH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1512"">1512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01366"">K01366</a>]
 SH2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10019"">10019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12459"">K12459</a>]
 C12orf30 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80018"">80018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17973"">K17973</a>]
 CD226 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10666"">10666</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06567"">K06567</a>]
 ITPR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3710"">3710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04960"">K04960</a>]
 CYP27B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1594"">1594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07438"">K07438</a>]",,"Cow's milk proteins
 Deficiency of vitamin D
 N-Nitroso compounds",,"ダパグリフロジンプロピレングリコール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09763"">D09763</a>]
 インスリン ヒト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03230"">D03230</a>]
 インスリンリスプロ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04477"">D04477</a>]
 インスリンアスパルト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04475"">D04475</a>]
 インスリングルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04540"">D04540</a>]
 インスリンデグルデク・インスリンアスパルト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10570"">D10570</a>]
 インスリングラルギン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03250"">D03250</a>]
 インスリンデテミル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04539"">D04539</a>]
 インスリンデグルデク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09727"">D09727</a>]
 マルトース水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05373"">D05373</a>]
 キシリトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00061"">D00061</a>]
 アカルボース [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00216"">D00216</a>]
 ミグリトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00625"">D00625</a>]
 ボグリボース [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01665"">D01665</a>]
 イプラグリフロジンL-プロリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10200"">D10200</a>]",,"ICD-11: 5A10
 ICD-10: E10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003922"">D003922</a>
 OMIM: <a href=""https://www.omim.org/entry/125852"">125852</a> <a href=""https://www.omim.org/entry/600320"">600320</a> <a href=""https://www.omim.org/entry/601942"">601942</a> <a href=""https://www.omim.org/entry/601388"">601388</a> <a href=""https://www.omim.org/entry/612520"">612520</a> <a href=""https://www.omim.org/entry/612522"">612522</a> <a href=""https://www.omim.org/entry/222100"">222100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19369670"">19369670</a>
 著者        Concannon P, Rich SS, Nepom GT
 タイトル      Genetics of type 1A diabetes.
 雑誌        N Engl J Med 360:1646-54 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0808284"">10.1056/NEJMra0808284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18482868"">18482868</a>
 著者        Ounissi-Benkalha H, Polychronakos C
 タイトル      The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
 雑誌        Trends Mol Med 14:268-75 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.molmed.2008.04.002"">10.1016/j.molmed.2008.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18192540"">18192540</a> (INS)
 著者        Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR
 タイトル      Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
 雑誌        Diabetes 57:1131-5 (2008)
 DOI:<a href=""https://doi.org/10.2337/db07-1467"">10.2337/db07-1467</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15247916"">15247916</a> (SUMO4)
 著者        Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY
 タイトル      A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes.
 雑誌        Nat Genet 36:837-41 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1391"">10.1038/ng1391</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15776395"">15776395</a> (IL2RA)
 著者        Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA
 タイトル      Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.
 雑誌        Am J Hum Genet 76:773-9 (2005)
 DOI:<a href=""https://doi.org/10.1086/429843"">10.1086/429843</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8817351"">8817351</a> (CTLA4)
 著者        Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA
 タイトル      The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry.
 雑誌        Hum Mol Genet 5:1075-80 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.7.1075"">10.1093/hmg/5.7.1075</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9313763"">9313763</a> (HNF1A)
 著者        Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J
 タイトル      Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
 雑誌        Diabetes 46:1643-7 (1997)
 DOI:<a href=""https://doi.org/10.2337/diacare.46.10.1643"">10.2337/diacare.46.10.1643</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19073967"">19073967</a> (CCR5)
 著者        Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA
 タイトル      Shared and distinct genetic variants in type 1 diabetes and celiac disease.
 雑誌        N Engl J Med 359:2767-77 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0807917"">10.1056/NEJMoa0807917</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22106694"">22106694</a> (HLA-DRB1 <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DQB1"">HLA-DQB1</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/HLA-DQA1)"">HLA-DQA1)</a>
 著者        Rohana AG, Loh KC, Tin SK, Soh CH, Nazaimoon WM, Fong KY, Azmi KN, Khalid BA
 タイトル      HLA-DQA1, -DQB1 and -DRB1 gene polymorphism--in Malay type 1 diabetes mellitus patients and their use for risk prediction.
 雑誌        Med J Malaysia 66:133-7 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25729936"">25729936</a> (PTPN22)
 著者        Liu HW, Xu RY, Sun RP, Wang Q, Liu JL, Ge W, Yu Z
 タイトル      Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents.
 雑誌        Genet Mol Res 14:63-8 (2015)
 DOI:<a href=""https://doi.org/10.4238/2015.January.15.8"">10.4238/2015.January.15.8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26344020"">26344020</a> (PTPN2)
 著者        Peng H, Li J, Chen X, Zhou X, Zhu W, Li F
 タイトル      Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus.
 雑誌        Med Sci Monit 21:2653-8 (2015)
 DOI:<a href=""https://doi.org/10.12659/MSM.893607"">10.12659/MSM.893607</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29109006"">29109006</a> (ERBB3)
 著者        Lemos NE, Dieter C, Dorfman LE, Assmann TS, Duarte GCK, Canani LH, Bauer AC, Crispim D
 タイトル      The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population.
 雑誌        Gene 644:122-128 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2017.11.009"">10.1016/j.gene.2017.11.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34328597"">34328597</a> (IL2 <a href=""https://pubmed.ncbi.nlm.nih.gov/IL21)"">IL21)</a>
 著者        Khalil RG, Abdel-Moneim A, Yousef AI, Abdel-Rahman H, Zanaty MI, El-Sayed A
 タイトル      Association of interleukin-2, interleukin-21 and interleukin-23 with hyperlipidemia in pediatric type 1 diabetes.
 雑誌        Mol Biol Rep 48:5421-5433 (2021)
 DOI:<a href=""https://doi.org/10.1007/s11033-021-06545-0"">10.1007/s11033-021-06545-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28929635"">28929635</a> (IFIH1)
 著者        Jermendy A, Szatmari I, Korner A, Szabo AJ, Toth-Heyn P, Hermann R
 タイトル      Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus.
 雑誌        Pediatr Diabetes 19:300-304 (2018)
 DOI:<a href=""https://doi.org/10.1111/pedi.12569"">10.1111/pedi.12569</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31570815"">31570815</a> (CLEC16A)
 著者        Gingerich MA, Sidarala V, Soleimanpour SA
 タイトル      Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI.
 雑誌        Genes Immun 21:79-82 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41435-019-0087-7"">10.1038/s41435-019-0087-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32236312"">32236312</a> (BACH2)
 著者        Dieter C, Lemos NE, Dorfman LE, Duarte GCK, Assmann TS, Crispim D
 タイトル      The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population.
 雑誌        Arch Endocrinol Metab 64:138-143 (2020)
 DOI:<a href=""https://doi.org/10.20945/2359-3997000000214"">10.20945/2359-3997000000214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24982147"">24982147</a> (CTSH)
 著者        Floyel T, Brorsson C, Nielsen LB, Miani M, Bang-Berthelsen CH, Friedrichsen M, Overgaard AJ, Berchtold LA, Wiberg A, Poulsen P, Hansen L, Rosinger S, Boehm BO, Ram R, Nguyen Q, Mehta M, Morahan G, Concannon P, Bergholdt R, Nielsen JH, Reinheckel T, von Herrath M, Vaag A, Eizirik DL, Mortensen HB, Storling J, Pociot F
 タイトル      CTSH regulates beta-cell function and disease progression in newly diagnosed type 1 diabetes patients.
 雑誌        Proc Natl Acad Sci U S A 111:10305-10 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1402571111"">10.1073/pnas.1402571111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20546165"">20546165</a> (SH2B3)
 著者        Lavrikova EY, Nikitin AG, Kuraeva TL, Peterkova VA, Tsitlidze NM, Chistiakov DA, Nosikov VV
 タイトル      The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.
 雑誌        Pediatr Diabetes 12:127-32 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-5448.2010.00656.x"">10.1111/j.1399-5448.2010.00656.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20089178"">20089178</a> (PTPN22 <a href=""https://pubmed.ncbi.nlm.nih.gov/C12orf30"">C12orf30</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CD226)"">CD226)</a>
 著者        Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R
 タイトル      Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
 雑誌        BMC Med Genet 11:11 (2010)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-11-11"">10.1186/1471-2350-11-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30145014"">30145014</a> (CD226)
 著者        Abu El-Ella SS, Khattab ESAEH, El-Mekkawy MS, El-Shamy AA
 タイトル      CD226 gene polymorphism (rs763361 C>T) is associated with susceptibility to type 1 diabetes mellitus among Egyptian children.
 雑誌        Arch Pediatr 25:378-382 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.arcped.2018.06.009"">10.1016/j.arcped.2018.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18340361"">18340361</a> (ITPR3)
 著者        Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C
 タイトル      The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II.
 雑誌        Genes Immun 9:264-6 (2008)
 DOI:<a href=""https://doi.org/10.1038/gene.2008.12"">10.1038/gene.2008.12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15225764"">15225764</a> (CYP27B1)
 著者        Lopez ER, Regulla K, Pani MA, Krause M, Usadel KH, Badenhoop K
 タイトル      CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans.
 雑誌        J Steroid Biochem Mol Biol 89-90:155-7 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jsbmb.2004.03.095"">10.1016/j.jsbmb.2004.03.095</a>"
H00409,2型糖尿病,,,"Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin secretion by pancreatic beta cells. Both insulin resistance and beta cell dysfunction are thought to result from the complex interplay of many different pathways under the combined control of environmental and genetic factors. It is accepted that T2DM results from population aging and adverse environmental factors of the modern world which favor the development of obesity.",代謝疾患; 内分泌系疾患,,"CDKN2A (polymorphism) [HSA:1029] [KO:K06621]
 CDKN2B (polymorphism) [HSA:1030] [KO:K04685]
 IGF2BP2 (polymorphism) [HSA:10644] [KO:K17392]
 CAPN10 (polymorphism) [HSA:11132] [KO:K08579]
 SLC30A8 (polymorphism) [HSA:169026] [KO:K14695]
 JAZF1 (polymorphism) [HSA:221895] [KO:K19495]
 HHEX (polymorphism) [HSA:3087] [KO:K08024]
 KCNJ11 (polymorphism) [HSA:3767] [KO:K05004]
 KCNQ1 (polymorphism) [HSA:3784] [KO:K04926]
 MTNR1B (polymorphism) [HSA:4544] [KO:K04286]
 NOTCH2 (polymorphism) [HSA:4853] [KO:K20994]
 ENPP1 (polymorphism) [HSA:5167] [KO:K01513]
 PPARG (polymorphism) [HSA:5468] [KO:K08530]
 CDKAL1 (polymorphism) [HSA:54901] [KO:K15865]
 ADAMTS9 (polymorphism) [HSA:56999] [KO:K08624]
 HNF1B (polymorphism) [HSA:6928] [KO:K08034]
 TCF7L2 (polymorphism) [HSA:6934] [KO:K04491]
 WFS1 (polymorphism) [HSA:7466] [KO:K14020]
 FTO (polymorphism) [HSA:79068] [KO:K19469]",,,,"ダパグリフロジンプロピレングリコール水和物 [DR:D09763]
 エンパグリフロジン [DR:D10459]
 インスリン ヒト [DR:D03230]
 インスリンリスプロ [DR:D04477]
 インスリンアスパルト [DR:D04475]
 インスリングルリジン [DR:D04540]
 インスリンデグルデク・インスリンアスパルト [DR:D10570]
 インスリングラルギン [DR:D03250]
 インスリンデテミル [DR:D04539]
 インスリンデグルデク [DR:D09727]
 エキセナチド [DR:D04121]
 リラグルチド [DR:D06404]
 リキシセナチド [DR:D09729]
 デュラグルチド [DR:D09889]
 セマグルチド [DR:D10025]
 マルトース水和物 [DR:D05373]
 キシリトール [DR:D00061]
 グリベンクラミド [DR:D00336]
 クロルプロパミド [DR:D00271]
 グリクラジド [DR:D01599]
 グリメピリド [DR:D00593]
 アセトヘキサミド [DR:D00219]
 グリクロピラミド [DR:D01799]
 メトホルミン塩酸塩 [DR:D00944]
 ブホルミン塩酸塩 [DR:D02206]
 インスリングラルギン・リキシセナチド [DR:D11034]
 インスリンデグルデク・リラグルチド [DR:D11567]
 ピオグリタゾン塩酸塩・メトホルミン塩酸塩 [DR:D09744]
 ピオグリタゾン塩酸塩・グリメピリド [DR:D09848]
 ビルダグリプチン・メトホルミン塩酸塩 [DR:D10743]
 アログリプチン安息香酸塩・ピオグリタゾン塩酸塩 [DR:D10159]
 アログリプチン安息香酸塩・メトホルミン塩酸塩 [DR:D10253]
 エンパグリフロジン・リナグリプチン [DR:D10588]
 アカルボース [DR:D00216]
 ミグリトール [DR:D00625]
 ボグリボース [DR:D01665]
 ピオグリタゾン塩酸塩 [DR:D00945]
 シタグリプチンリン酸塩水和物 [DR:D06645]
 ビルダグリプチン [DR:D07080]
 サキサグリプチン水和物 [DR:D09753]
 アログリプチン安息香酸塩 [DR:D06553]
 リナグリプチン [DR:D09566]
 テネリグリプチン臭化水素酸塩水和物 [DR:D09756]
 カナグリフロジン水和物 [DR:D09592]
 イプラグリフロジンL-プロリン [DR:D10200]
 ルセオグリフロジン水和物 [DR:D10195]
 レパグリニド [DR:D00594]
 ナテグリニド [DR:D01111]
 ミチグリニドカルシウム水和物 [DR:D01854]
 イメグリミン塩酸塩 [DR:D11807]
 アナグリプチン [DR:D09780]
 トホグリフロジン水和物 [DR:D09978]
 ミチグリニドカルシウム水和物・ボグリボース [DR:D10160]
 トレラグリプチンコハク酸塩 [DR:D10179]
 オマリグリプチン [DR:D10317]
 テネリグリプチン臭化水素酸塩水和物・カナグリフロジン水和物 [DR:D10897]
 シタグリプチン・イプラグリフロジン [DR:D11064]
 アナグリプチン・メトホルミン塩酸塩 [DR:D11109]",,"ICD-11: 5A11
 ICD-10: E11
 MeSH: D003924
 OMIM: 125853 601283","PMID:19749172
 著者        Staiger H, Machicao F, Fritsche A, Haring HU
 タイトル      Pathomechanisms of type 2 diabetes genes.
 雑誌        Endocr Rev 30:557-85 (2009)
 DOI:10.1210/er.2009-0017
 PMID:18782870
 著者        Florez JC
 タイトル      Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
 雑誌        J Clin Endocrinol Metab 93:4633-42 (2008)
 DOI:10.1210/jc.2008-1345
 PMID:18762020
 著者        Doria A, Patti ME, Kahn CR
 タイトル      The emerging genetic architecture of type 2 diabetes.
 雑誌        Cell Metab 8:186-200 (2008)
 DOI:10.1016/j.cmet.2008.08.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00409"">H00409</a>",2型糖尿病,"Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin secretion by pancreatic beta cells. Both insulin resistance and beta cell dysfunction are thought to result from the complex interplay of many different pathways under the combined control of environmental and genetic factors. It is accepted that T2DM results from population aging and adverse environmental factors of the modern world which favor the development of obesity.",,"CDKN2A (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 CDKN2B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 IGF2BP2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10644"">10644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17392"">K17392</a>]
 CAPN10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11132"">11132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08579"">K08579</a>]
 SLC30A8 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:169026"">169026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14695"">K14695</a>]
 JAZF1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221895"">221895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19495"">K19495</a>]
 HHEX (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3087"">3087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08024"">K08024</a>]
 KCNJ11 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3767"">3767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05004"">K05004</a>]
 KCNQ1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]
 MTNR1B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4544"">4544</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04286"">K04286</a>]
 NOTCH2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4853"">4853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20994"">K20994</a>]
 ENPP1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]
 PPARG (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5468"">5468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08530"">K08530</a>]
 CDKAL1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54901"">54901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15865"">K15865</a>]
 ADAMTS9 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56999"">56999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08624"">K08624</a>]
 HNF1B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6928"">6928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08034"">K08034</a>]
 TCF7L2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6934"">6934</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04491"">K04491</a>]
 WFS1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7466"">7466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14020"">K14020</a>]
 FTO (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79068"">79068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19469"">K19469</a>]",,,,"ダパグリフロジンプロピレングリコール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09763"">D09763</a>]
 エンパグリフロジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10459"">D10459</a>]
 インスリン ヒト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03230"">D03230</a>]
 インスリンリスプロ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04477"">D04477</a>]
 インスリンアスパルト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04475"">D04475</a>]
 インスリングルリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04540"">D04540</a>]
 インスリンデグルデク・インスリンアスパルト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10570"">D10570</a>]
 インスリングラルギン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03250"">D03250</a>]
 インスリンデテミル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04539"">D04539</a>]
 インスリンデグルデク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09727"">D09727</a>]
 エキセナチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04121"">D04121</a>]
 リラグルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06404"">D06404</a>]
 リキシセナチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09729"">D09729</a>]
 デュラグルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09889"">D09889</a>]
 セマグルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10025"">D10025</a>]
 マルトース水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05373"">D05373</a>]
 キシリトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00061"">D00061</a>]
 グリベンクラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00336"">D00336</a>]
 クロルプロパミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00271"">D00271</a>]
 グリクラジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01599"">D01599</a>]
 グリメピリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00593"">D00593</a>]
 アセトヘキサミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00219"">D00219</a>]
 グリクロピラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01799"">D01799</a>]
 メトホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00944"">D00944</a>]
 ブホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02206"">D02206</a>]
 インスリングラルギン・リキシセナチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11034"">D11034</a>]
 インスリンデグルデク・リラグルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11567"">D11567</a>]
 ピオグリタゾン塩酸塩・メトホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09744"">D09744</a>]
 ピオグリタゾン塩酸塩・グリメピリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09848"">D09848</a>]
 ビルダグリプチン・メトホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10743"">D10743</a>]
 アログリプチン安息香酸塩・ピオグリタゾン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10159"">D10159</a>]
 アログリプチン安息香酸塩・メトホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10253"">D10253</a>]
 エンパグリフロジン・リナグリプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10588"">D10588</a>]
 アカルボース [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00216"">D00216</a>]
 ミグリトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00625"">D00625</a>]
 ボグリボース [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01665"">D01665</a>]
 ピオグリタゾン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00945"">D00945</a>]
 シタグリプチンリン酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06645"">D06645</a>]
 ビルダグリプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07080"">D07080</a>]
 サキサグリプチン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09753"">D09753</a>]
 アログリプチン安息香酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06553"">D06553</a>]
 リナグリプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09566"">D09566</a>]
 テネリグリプチン臭化水素酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09756"">D09756</a>]
 カナグリフロジン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09592"">D09592</a>]
 イプラグリフロジンL-プロリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10200"">D10200</a>]
 ルセオグリフロジン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10195"">D10195</a>]
 レパグリニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00594"">D00594</a>]
 ナテグリニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01111"">D01111</a>]
 ミチグリニドカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01854"">D01854</a>]
 イメグリミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11807"">D11807</a>]
 アナグリプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09780"">D09780</a>]
 トホグリフロジン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09978"">D09978</a>]
 ミチグリニドカルシウム水和物・ボグリボース [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10160"">D10160</a>]
 トレラグリプチンコハク酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10179"">D10179</a>]
 オマリグリプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10317"">D10317</a>]
 テネリグリプチン臭化水素酸塩水和物・カナグリフロジン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10897"">D10897</a>]
 シタグリプチン・イプラグリフロジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11064"">D11064</a>]
 アナグリプチン・メトホルミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11109"">D11109</a>]",,"ICD-11: 5A11
 ICD-10: E11
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003924"">D003924</a>
 OMIM: <a href=""https://www.omim.org/entry/125853"">125853</a> <a href=""https://www.omim.org/entry/601283"">601283</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19749172"">19749172</a>
 著者        Staiger H, Machicao F, Fritsche A, Haring HU
 タイトル      Pathomechanisms of type 2 diabetes genes.
 雑誌        Endocr Rev 30:557-85 (2009)
 DOI:<a href=""https://doi.org/10.1210/er.2009-0017"">10.1210/er.2009-0017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18782870"">18782870</a>
 著者        Florez JC
 タイトル      Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
 雑誌        J Clin Endocrinol Metab 93:4633-42 (2008)
 DOI:<a href=""https://doi.org/10.1210/jc.2008-1345"">10.1210/jc.2008-1345</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18762020"">18762020</a>
 著者        Doria A, Patti ME, Kahn CR
 タイトル      The emerging genetic architecture of type 2 diabetes.
 雑誌        Cell Metab 8:186-200 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cmet.2008.08.006"">10.1016/j.cmet.2008.08.006</a>"
H00410,若年発症成人型糖尿病 (MODY),,,"Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.",代謝疾患; 内分泌系疾患,,"(MODY1) HNF4A [HSA:3172] [KO:K07292]
 (MODY2) GCK [HSA:2645] [KO:K12407]
 (MODY3) HNF1A [HSA:6927] [KO:K08036]
 (MODY4) PDX1 [HSA:3651] [KO:K07594]
 (MODY5) HNF1B [HSA:6928] [KO:K08034]
 (MODY6) NEUROD1 [HSA:4760] [KO:K08033]
 (MODY7) KLF11 [HSA:8462] [KO:K09209]
 (MODY8) CEL [HSA:1056] [KO:K12298]
 (MODY9) PAX4 [HSA:5078] [KO:K08032]
 (MODY10) INS [HSA:3630] [KO:K04526]
 (MODY11) BLK [HSA:640] [KO:K08890]
 (MODY13) KCNJ11 [HSA:3767] [KO:K05004]
 (MODY14) APPL1 [HSA:26060] [KO:K08733]",,,,,,"ICD-11: 5A13.0
 ICD-10: E13
 MeSH: C565101 C564219 C563933 C563451 C535520 C565231 C566466 C565225 C567393
 OMIM: 606391 125850 125851 600496 606392 137920 606394 610508 609812 612225 613370 613375 616329 616511","PMID:18436708
 著者        Vaxillaire M, Froguel P
 タイトル      Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.
 雑誌        Endocr Rev 29:254-64 (2008)
 DOI:10.1210/er.2007-0024
 PMID:11979019
 著者        Velho G, Robert JJ
 タイトル      Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics.
 雑誌        Horm Res 57 Suppl 1:29-33 (2002)
 DOI:10.1159/000053309
 PMID:8945471 (MODY1)
 著者        Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI
 タイトル      Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
 雑誌        Nature 384:458-60 (1996)
 DOI:10.1038/384458a0
 PMID:1570017 (MODY2)
 著者        Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al.
 タイトル      Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
 雑誌        Nature 356:721-2 (1992)
 DOI:10.1038/356721a0
 PMID:8945470 (MODY3)
 著者        Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI, et al.
 タイトル      Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
 雑誌        Nature 384:455-8 (1996)
 DOI:10.1038/384455a0
 PMID:9326926 (MODY4)
 著者        Stoffers DA, Ferrer J, Clarke WL, Habener JF
 タイトル      Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
 雑誌        Nat Genet 17:138-9 (1997)
 DOI:10.1038/ng1097-138
 PMID:9398836 (MODY5)
 著者        Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI
 タイトル      Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
 雑誌        Nat Genet 17:384-5 (1997)
 DOI:10.1038/ng1297-384
 PMID:10545951 (MODY6)
 著者        Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS
 タイトル      Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
 雑誌        Nat Genet 23:323-8 (1999)
 DOI:10.1038/15500
 PMID:15774581 (MODY7)
 著者        Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, Vaillant E, Benmezroua Y, Durand E, Bakaher N, Delannoy V, Vaxillaire M, Cook T, Dallinga-Thie GM, Jansen H, Charles MA, Clement K, Galan P, Hercberg S, Helbecque N, Charpentier G, Prentki M, Hansen T, Pedersen O, Urrutia R, Melloul D, Froguel P
 タイトル      Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.
 雑誌        Proc Natl Acad Sci U S A 102:4807-12 (2005)
 DOI:10.1073/pnas.0409177102
 PMID:16369531 (MODY8)
 著者        Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR
 タイトル      Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
 雑誌        Nat Genet 38:54-62 (2006)
 DOI:10.1038/ng1708
 PMID:17426099 (MODY9)
 著者        Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N
 タイトル      PAX4 mutations in Thais with maturity onset diabetes of the young.
 雑誌        J Clin Endocrinol Metab 92:2821-6 (2007)
 DOI:10.1210/jc.2006-1927
 PMID:20226046 (MODY10)
 著者        Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T
 タイトル      Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
 雑誌        BMC Med Genet 11:42 (2010)
 DOI:10.1186/1471-2350-11-42
 PMID:19667185 (MODY11)
 著者        Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A
 タイトル      Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
 雑誌        Proc Natl Acad Sci U S A 106:14460-5 (2009)
 DOI:10.1073/pnas.0906474106
 PMID:22701567 (MODY13)
 著者        Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P
 タイトル      Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
 雑誌        PLoS One 7:e37423 (2012)
 DOI:10.1371/journal.pone.0037423
 PMID:26073777 (MODY14)
 著者        Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A
 タイトル      Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
 雑誌        Am J Hum Genet 97:177-85 (2015)
 DOI:10.1016/j.ajhg.2015.05.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00410"">H00410</a>",若年発症成人型糖尿病 (MODY),"Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.",,"(MODY1) HNF4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3172"">3172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07292"">K07292</a>]
 (MODY2) GCK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2645"">2645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12407"">K12407</a>]
 (MODY3) HNF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6927"">6927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08036"">K08036</a>]
 (MODY4) PDX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3651"">3651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07594"">K07594</a>]
 (MODY5) HNF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6928"">6928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08034"">K08034</a>]
 (MODY6) NEUROD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4760"">4760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08033"">K08033</a>]
 (MODY7) KLF11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8462"">8462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09209"">K09209</a>]
 (MODY8) CEL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1056"">1056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12298"">K12298</a>]
 (MODY9) PAX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5078"">5078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08032"">K08032</a>]
 (MODY10) INS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3630"">3630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04526"">K04526</a>]
 (MODY11) BLK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:640"">640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08890"">K08890</a>]
 (MODY13) KCNJ11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3767"">3767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05004"">K05004</a>]
 (MODY14) APPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26060"">26060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08733"">K08733</a>]",,,,,,"ICD-11: 5A13.0
 ICD-10: E13
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565101"">C565101</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564219"">C564219</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563933"">C563933</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563451"">C563451</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535520"">C535520</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565231"">C565231</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566466"">C566466</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565225"">C565225</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567393"">C567393</a>
 OMIM: <a href=""https://www.omim.org/entry/606391"">606391</a> <a href=""https://www.omim.org/entry/125850"">125850</a> <a href=""https://www.omim.org/entry/125851"">125851</a> <a href=""https://www.omim.org/entry/600496"">600496</a> <a href=""https://www.omim.org/entry/606392"">606392</a> <a href=""https://www.omim.org/entry/137920"">137920</a> <a href=""https://www.omim.org/entry/606394"">606394</a> <a href=""https://www.omim.org/entry/610508"">610508</a> <a href=""https://www.omim.org/entry/609812"">609812</a> <a href=""https://www.omim.org/entry/612225"">612225</a> <a href=""https://www.omim.org/entry/613370"">613370</a> <a href=""https://www.omim.org/entry/613375"">613375</a> <a href=""https://www.omim.org/entry/616329"">616329</a> <a href=""https://www.omim.org/entry/616511"">616511</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18436708"">18436708</a>
 著者        Vaxillaire M, Froguel P
 タイトル      Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.
 雑誌        Endocr Rev 29:254-64 (2008)
 DOI:<a href=""https://doi.org/10.1210/er.2007-0024"">10.1210/er.2007-0024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11979019"">11979019</a>
 著者        Velho G, Robert JJ
 タイトル      Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics.
 雑誌        Horm Res 57 Suppl 1:29-33 (2002)
 DOI:<a href=""https://doi.org/10.1159/000053309"">10.1159/000053309</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8945471"">8945471</a> (MODY1)
 著者        Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI
 タイトル      Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
 雑誌        Nature 384:458-60 (1996)
 DOI:<a href=""https://doi.org/10.1038/384458a0"">10.1038/384458a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1570017"">1570017</a> (MODY2)
 著者        Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al.
 タイトル      Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
 雑誌        Nature 356:721-2 (1992)
 DOI:<a href=""https://doi.org/10.1038/356721a0"">10.1038/356721a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8945470"">8945470</a> (MODY3)
 著者        Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI, et al.
 タイトル      Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
 雑誌        Nature 384:455-8 (1996)
 DOI:<a href=""https://doi.org/10.1038/384455a0"">10.1038/384455a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9326926"">9326926</a> (MODY4)
 著者        Stoffers DA, Ferrer J, Clarke WL, Habener JF
 タイトル      Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
 雑誌        Nat Genet 17:138-9 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng1097-138"">10.1038/ng1097-138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9398836"">9398836</a> (MODY5)
 著者        Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI
 タイトル      Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
 雑誌        Nat Genet 17:384-5 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng1297-384"">10.1038/ng1297-384</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10545951"">10545951</a> (MODY6)
 著者        Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS
 タイトル      Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
 雑誌        Nat Genet 23:323-8 (1999)
 DOI:<a href=""https://doi.org/10.1038/15500"">10.1038/15500</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15774581"">15774581</a> (MODY7)
 著者        Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, Vaillant E, Benmezroua Y, Durand E, Bakaher N, Delannoy V, Vaxillaire M, Cook T, Dallinga-Thie GM, Jansen H, Charles MA, Clement K, Galan P, Hercberg S, Helbecque N, Charpentier G, Prentki M, Hansen T, Pedersen O, Urrutia R, Melloul D, Froguel P
 タイトル      Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.
 雑誌        Proc Natl Acad Sci U S A 102:4807-12 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0409177102"">10.1073/pnas.0409177102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16369531"">16369531</a> (MODY8)
 著者        Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR
 タイトル      Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
 雑誌        Nat Genet 38:54-62 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1708"">10.1038/ng1708</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17426099"">17426099</a> (MODY9)
 著者        Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N
 タイトル      PAX4 mutations in Thais with maturity onset diabetes of the young.
 雑誌        J Clin Endocrinol Metab 92:2821-6 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2006-1927"">10.1210/jc.2006-1927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20226046"">20226046</a> (MODY10)
 著者        Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T
 タイトル      Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
 雑誌        BMC Med Genet 11:42 (2010)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-11-42"">10.1186/1471-2350-11-42</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19667185"">19667185</a> (MODY11)
 著者        Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A
 タイトル      Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
 雑誌        Proc Natl Acad Sci U S A 106:14460-5 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0906474106"">10.1073/pnas.0906474106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22701567"">22701567</a> (MODY13)
 著者        Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P
 タイトル      Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
 雑誌        PLoS One 7:e37423 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0037423"">10.1371/journal.pone.0037423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26073777"">26073777</a> (MODY14)
 著者        Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A
 タイトル      Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
 雑誌        Am J Hum Genet 97:177-85 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.011"">10.1016/j.ajhg.2015.05.011</a>"
H00411,"A型肝炎
 上位グループ    ウイルス性肝炎 [DS:H02162]
 劇症肝炎 [DS:H01712]",,,"Hepatitis A is an infectious disease caused by hepatitis A virus (HAV), also called hepatovirus A, belonging to the Picornaviridae family of +ssRNA viruses. HAV can be transmitted through contaminated food and water. Unlike hepatitis B and C, hepatitis A does not become chronic.",感染症,,,Hepatovirus A [GN:T40068],,,"乾燥組織培養不活性化A型肝炎ワクチン [DR:D08778]
 人免疫グロブリン [DR:D06458]",,"ICD-11: 1E50.0
 ICD-10: B15
 MeSH: D006506
 MedlinePlus: 000278","PMID:8182265
 著者        Shapiro CN, Margolis HS
 タイトル      Worldwide epidemiology of hepatitis A virus infection.
 雑誌        J Hepatol 18 Suppl 2:S11-4 (1993)
 DOI:10.1016/S0168-8278(05)80371-X
 PMID:22008459
 著者        Mohd Hanafiah K, Jacobsen KH, Wiersma ST
 タイトル      Challenges to mapping the health risk of hepatitis A virus infection.
 雑誌        Int J Health Geogr 10:57 (2011)
 DOI:10.1186/1476-072X-10-57
 PMID:8882375
 著者        Strader DB, Seeff LB
 タイトル      New hepatitis A vaccines and their role in prevention.
 雑誌        Drugs 51:359-66 (1996)
 DOI:10.2165/00003495-199651030-00002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00411"">H00411</a>","A型肝炎
 上位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]
 劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]","Hepatitis A is an infectious disease caused by hepatitis A virus (HAV), also called hepatovirus A, belonging to the Picornaviridae family of +ssRNA viruses. HAV can be transmitted through contaminated food and water. Unlike hepatitis B and C, hepatitis A does not become chronic.",,,"Hepatovirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40068"">T40068</a>]",,,"乾燥組織培養不活性化A型肝炎ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08778"">D08778</a>]
 人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06458"">D06458</a>]",,"ICD-11: 1E50.0
 ICD-10: B15
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006506"">D006506</a>
 MedlinePlus: 000278","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8182265"">8182265</a>
 著者        Shapiro CN, Margolis HS
 タイトル      Worldwide epidemiology of hepatitis A virus infection.
 雑誌        J Hepatol 18 Suppl 2:S11-4 (1993)
 DOI:<a href=""https://doi.org/10.1016/S0168-8278(05)80371-X"">10.1016/S0168-8278(05)80371-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22008459"">22008459</a>
 著者        Mohd Hanafiah K, Jacobsen KH, Wiersma ST
 タイトル      Challenges to mapping the health risk of hepatitis A virus infection.
 雑誌        Int J Health Geogr 10:57 (2011)
 DOI:<a href=""https://doi.org/10.1186/1476-072X-10-57"">10.1186/1476-072X-10-57</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8882375"">8882375</a>
 著者        Strader DB, Seeff LB
 タイトル      New hepatitis A vaccines and their role in prevention.
 雑誌        Drugs 51:359-66 (1996)
 DOI:<a href=""https://doi.org/10.2165/00003495-199651030-00002"">10.2165/00003495-199651030-00002</a>"
H00412,"B型肝炎
 上位グループ    ウイルス性肝炎 [DS:H02162]
 劇症肝炎 [DS:H01712]",,,"Hepatitis B is an infectious disease caused by hepatitis B virus (HBV) belonging to the Hepadnaviridae family of dsDNA-RT viruses. Both acute and chronic hepatitis B can be caused by blood-borne HBV infections. The risk of developing chronic hepatitis B is directly related to the age of first infection, much higher for infants. Chronic hepatitis B may eventaully lead to cirrhosis and hepatocellular carcinoma.",感染症,nt06162  Hepatitis B virus (HBV),"IFNAR2 (susceptibility) [HSA:3455] [KO:K05131]
 IFNGR1 (susceptibility) [HSA:3459] [KO:K05132]
 IL10RB (susceptibility) [HSA:3588] [KO:K05135]",Hepatitis B virus (HBV) [GN:T40004],,,"プロパゲルマニウム [DR:D01626]
 ラミブジン [DR:D00353]
 テノホビルジソプロキシルフマル酸塩 [DR:D01982]
 アデホビルピボキシル [DR:D01655]
 エンテカビル水和物 [DR:D04008]
 テノホビルアラフェナミドフマル酸塩 [DR:D10605]
 ポリエチレングリコール処理抗HBs人免疫グロブリン [DR:D08781]
 乾燥抗HBs人免疫グロブリン [DR:D08790]
 抗HBs人免疫グロブリン [DR:D08799]
 インターフェロンアルファ (NAMALWA) [DR:D03305]
 インターフェロンベータ [DR:D03304]
 ペグインターフェロンアルファ-2a [DR:D02747]",,"ICD-11: 1E50.1 1E51.0
 ICD-10: B16
 MeSH: D006509
 MedlinePlus: 000279
 OMIM: 610424","PMID:22252919
 著者        Nebbia G, Peppa D, Maini MK
 タイトル      Hepatitis B infection: current concepts and future challenges.
 雑誌        QJM 105:109-13 (2012)
 DOI:10.1093/qjmed/hcr270
 PMID:12000599
 著者        Pramoolsinsup C
 タイトル      Management of viral hepatitis B.
 雑誌        J Gastroenterol Hepatol 17 Suppl:S125-45 (2002)
 DOI:10.1046/j.1440-1746.17.s1.3.x
 PMID:22171125
 著者        Tan YJ
 タイトル      Hepatitis B virus infection and the risk of hepatocellular carcinoma.
 雑誌        World J Gastroenterol 17:4853-7 (2011)
 DOI:10.3748/wjg.v17.i44.4853
 PMID:16757563 (IFNAR2, IL10RB)
 著者        Frodsham AJ, Zhang L, Dumpis U, Taib NA, Best S, Durham A, Hennig BJ, Hellier S, Knapp S, Wright M, Chiaramonte M, Bell JI, Graves M, Whittle HC, Thomas HC, Thursz MR, Hill AV
 タイトル      Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.
 雑誌        Proc Natl Acad Sci U S A 103:9148-53 (2006)
 DOI:10.1073/pnas.0602800103
 PMID:19488747 (IFNGR1)
 著者        Zhou J, Chen DQ, Poon VK, Zeng Y, Ng F, Lu L, Huang JD, Yuen KY, Zheng BJ
 タイトル      A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection.
 雑誌        Immunogenetics 61:423-30 (2009)
 DOI:10.1007/s00251-009-0377-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00412"">H00412</a>","B型肝炎
 上位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]
 劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]","Hepatitis B is an infectious disease caused by hepatitis B virus (HBV) belonging to the Hepadnaviridae family of dsDNA-RT viruses. Both acute and chronic hepatitis B can be caused by blood-borne HBV infections. The risk of developing chronic hepatitis B is directly related to the age of first infection, much higher for infants. Chronic hepatitis B may eventaully lead to cirrhosis and hepatocellular carcinoma.","<a href=""https://www.kegg.jp/network/nt06162"">nt06162</a>  Hepatitis B virus (HBV)","IFNAR2 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3455"">3455</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05131"">K05131</a>]
 IFNGR1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3459"">3459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05132"">K05132</a>]
 IL10RB (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3588"">3588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05135"">K05135</a>]","Hepatitis B virus (HBV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40004"">T40004</a>]",,,"プロパゲルマニウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01626"">D01626</a>]
 ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00353"">D00353</a>]
 テノホビルジソプロキシルフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01982"">D01982</a>]
 アデホビルピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01655"">D01655</a>]
 エンテカビル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04008"">D04008</a>]
 テノホビルアラフェナミドフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10605"">D10605</a>]
 ポリエチレングリコール処理抗HBs人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08781"">D08781</a>]
 乾燥抗HBs人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08790"">D08790</a>]
 抗HBs人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08799"">D08799</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]
 インターフェロンベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03304"">D03304</a>]
 ペグインターフェロンアルファ-2a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02747"">D02747</a>]",,"ICD-11: 1E50.1 1E51.0
 ICD-10: B16
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006509"">D006509</a>
 MedlinePlus: 000279
 OMIM: <a href=""https://www.omim.org/entry/610424"">610424</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22252919"">22252919</a>
 著者        Nebbia G, Peppa D, Maini MK
 タイトル      Hepatitis B infection: current concepts and future challenges.
 雑誌        QJM 105:109-13 (2012)
 DOI:<a href=""https://doi.org/10.1093/qjmed/hcr270"">10.1093/qjmed/hcr270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12000599"">12000599</a>
 著者        Pramoolsinsup C
 タイトル      Management of viral hepatitis B.
 雑誌        J Gastroenterol Hepatol 17 Suppl:S125-45 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1440-1746.17.s1.3.x"">10.1046/j.1440-1746.17.s1.3.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22171125"">22171125</a>
 著者        Tan YJ
 タイトル      Hepatitis B virus infection and the risk of hepatocellular carcinoma.
 雑誌        World J Gastroenterol 17:4853-7 (2011)
 DOI:<a href=""https://doi.org/10.3748/wjg.v17.i44.4853"">10.3748/wjg.v17.i44.4853</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16757563"">16757563</a> (IFNAR2, <a href=""https://pubmed.ncbi.nlm.nih.gov/IL10RB)"">IL10RB)</a>
 著者        Frodsham AJ, Zhang L, Dumpis U, Taib NA, Best S, Durham A, Hennig BJ, Hellier S, Knapp S, Wright M, Chiaramonte M, Bell JI, Graves M, Whittle HC, Thomas HC, Thursz MR, Hill AV
 タイトル      Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.
 雑誌        Proc Natl Acad Sci U S A 103:9148-53 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0602800103"">10.1073/pnas.0602800103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19488747"">19488747</a> (IFNGR1)
 著者        Zhou J, Chen DQ, Poon VK, Zeng Y, Ng F, Lu L, Huang JD, Yuen KY, Zheng BJ
 タイトル      A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection.
 雑誌        Immunogenetics 61:423-30 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00251-009-0377-8"">10.1007/s00251-009-0377-8</a>"
H00413,"C型肝炎
 上位グループ    ウイルス性肝炎 [DS:H02162]
 劇症肝炎 [DS:H01712]",,,Hepatitis C is a blood-borne infectious disease caused by Hepatitis C virus (HCV) belonging to the Flaviviridae family of +ssRNA viruses. HCV infection often becomes chronic and can lead to degenerative liver diseases including fibrosis and cirrhosis. Some of these may eventually lead to hepatocellular carcinoma.,感染症,nt06163  Hepatitis C virus (HCV),"CCR5 (resistance) [HSA:1234] [KO:K04180]
 PTPRC (susceptibility) [HSA:5788] [KO:K06478]",Hepatitis C virus (HCV) [GN:T40066],,,"リバビリン [DR:D00423]
 ソホスブビル [DR:D10366]
 エルバスビル [DR:D10625]
 グラゾプレビル水和物 [DR:D10639]
 レジパスビル・ソホスブビル [DR:D10578]
 ソホスブビル・ベルパタスビル [DR:D10827]
 グレカプレビル・ピブレンタスビル [DR:D11014]
 インターフェロンアルファ (NAMALWA) [DR:D03305]
 インターフェロンベータ [DR:D03304]
 ペグインターフェロンアルファ-2b [DR:D02748]
 ペグインターフェロンアルファ-2a [DR:D02747]
 テラプレビル [DR:D09012]",,"ICD-11: 1E50.2 1E51.1
 ICD-10: B17.1
 MeSH: D006526
 MedlinePlus: 000284
 OMIM: 609532","PMID:26600216
 著者        Lingala S, Ghany MG
 タイトル      Natural History of Hepatitis C.
 雑誌        Gastroenterol Clin North Am 44:717-34 (2015)
 DOI:10.1016/j.gtc.2015.07.003
 PMID:25071320
 著者        Lee MH, Yang HI, Yuan Y, L'Italien G, Chen CJ
 タイトル      Epidemiology and natural history of hepatitis C virus infection.
 雑誌        World J Gastroenterol 20:9270-80 (2014)
 DOI:10.3748/wjg.v20.i28.9270
 PMID:15863470 (CCR5)
 著者        Goulding C, McManus R, Murphy A, MacDonald G, Barrett S, Crowe J, Hegarty J, McKiernan S, Kelleher D
 タイトル      The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source.
 雑誌        Gut 54:1157-61 (2005)
 DOI:10.1136/gut.2004.055699
 PMID:16505159 (PTPRC)
 著者        Dawes R, Hennig B, Irving W, Petrova S, Boxall S, Ward V, Wallace D, Macallan DC, Thursz M, Hill A, Bodmer W, Beverley PC, Tchilian EZ
 タイトル      Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.
 雑誌        J Med Genet 43:678-84 (2006)
 DOI:10.1136/jmg.2005.040485","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00413"">H00413</a>","C型肝炎
 上位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]
 劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]",Hepatitis C is a blood-borne infectious disease caused by Hepatitis C virus (HCV) belonging to the Flaviviridae family of +ssRNA viruses. HCV infection often becomes chronic and can lead to degenerative liver diseases including fibrosis and cirrhosis. Some of these may eventually lead to hepatocellular carcinoma.,"<a href=""https://www.kegg.jp/network/nt06163"">nt06163</a>  Hepatitis C virus (HCV)","CCR5 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1234"">1234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04180"">K04180</a>]
 PTPRC (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5788"">5788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06478"">K06478</a>]","Hepatitis C virus (HCV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40066"">T40066</a>]",,,"リバビリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00423"">D00423</a>]
 ソホスブビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10366"">D10366</a>]
 エルバスビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10625"">D10625</a>]
 グラゾプレビル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10639"">D10639</a>]
 レジパスビル・ソホスブビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10578"">D10578</a>]
 ソホスブビル・ベルパタスビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10827"">D10827</a>]
 グレカプレビル・ピブレンタスビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11014"">D11014</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]
 インターフェロンベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03304"">D03304</a>]
 ペグインターフェロンアルファ-2b [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02748"">D02748</a>]
 ペグインターフェロンアルファ-2a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02747"">D02747</a>]
 テラプレビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09012"">D09012</a>]",,"ICD-11: 1E50.2 1E51.1
 ICD-10: B17.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006526"">D006526</a>
 MedlinePlus: 000284
 OMIM: <a href=""https://www.omim.org/entry/609532"">609532</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26600216"">26600216</a>
 著者        Lingala S, Ghany MG
 タイトル      Natural History of Hepatitis C.
 雑誌        Gastroenterol Clin North Am 44:717-34 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.gtc.2015.07.003"">10.1016/j.gtc.2015.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25071320"">25071320</a>
 著者        Lee MH, Yang HI, Yuan Y, L'Italien G, Chen CJ
 タイトル      Epidemiology and natural history of hepatitis C virus infection.
 雑誌        World J Gastroenterol 20:9270-80 (2014)
 DOI:<a href=""https://doi.org/10.3748/wjg.v20.i28.9270"">10.3748/wjg.v20.i28.9270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15863470"">15863470</a> (CCR5)
 著者        Goulding C, McManus R, Murphy A, MacDonald G, Barrett S, Crowe J, Hegarty J, McKiernan S, Kelleher D
 タイトル      The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source.
 雑誌        Gut 54:1157-61 (2005)
 DOI:<a href=""https://doi.org/10.1136/gut.2004.055699"">10.1136/gut.2004.055699</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16505159"">16505159</a> (PTPRC)
 著者        Dawes R, Hennig B, Irving W, Petrova S, Boxall S, Ward V, Wallace D, Macallan DC, Thursz M, Hill A, Bodmer W, Beverley PC, Tchilian EZ
 タイトル      Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.
 雑誌        J Med Genet 43:678-84 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.040485"">10.1136/jmg.2005.040485</a>"
H00414,"D型肝炎
 上位グループ    ウイルス性肝炎 [DS:H02162]
 劇症肝炎 [DS:H01712]",,,"Hepatitis D is caused by hepatitis D virus (HDV), also called hepatitis delta virus, which is a satellite that can infect human only in the presence of hepatitis B virus (HBV).",感染症,,,Hepatitis delta virus [GN:T40085],,,,,"ICD-11: 1E50.3 1E51.2
 ICD-10: B18
 MeSH: D003699
 MedlinePlus: 000216","PMID:20880077
 著者        Pascarella S, Negro F
 タイトル      Hepatitis D virus: an update.
 雑誌        Liver Int 31:7-21 (2011)
 DOI:10.1111/j.1478-3231.2010.02320.x
 PMID:17098688
 著者        Hsieh TH, Liu CJ, Chen DS, Chen PJ
 タイトル      Natural course and treatment of hepatitis D virus infection.
 雑誌        J Formos Med Assoc 105:869-81 (2006)
 DOI:10.1016/S0929-6646(09)60172-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00414"">H00414</a>","D型肝炎
 上位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]
 劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]","Hepatitis D is caused by hepatitis D virus (HDV), also called hepatitis delta virus, which is a satellite that can infect human only in the presence of hepatitis B virus (HBV).",,,"Hepatitis delta virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40085"">T40085</a>]",,,,,"ICD-11: 1E50.3 1E51.2
 ICD-10: B18
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003699"">D003699</a>
 MedlinePlus: 000216","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20880077"">20880077</a>
 著者        Pascarella S, Negro F
 タイトル      Hepatitis D virus: an update.
 雑誌        Liver Int 31:7-21 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1478-3231.2010.02320.x"">10.1111/j.1478-3231.2010.02320.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17098688"">17098688</a>
 著者        Hsieh TH, Liu CJ, Chen DS, Chen PJ
 タイトル      Natural course and treatment of hepatitis D virus infection.
 雑誌        J Formos Med Assoc 105:869-81 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0929-6646(09)60172-8"">10.1016/S0929-6646(09)60172-8</a>"
H00415,"E型肝炎
 上位グループ    ウイルス性肝炎 [DS:H02162]
 劇症肝炎 [DS:H01712]",,,Hepatitis E is an infectious disease caused by hepatitis E virus (HEV) belonging to the Hepeviridae family of +ssRNA viruses. HEV is transmitted through the fecal-oral route.,感染症,,,Hepatitis E virus (HEV) [GN:T40067],,,,,"ICD-11: 1E50.4 1E51.3
 ICD-10: B17.2
 MeSH: D016751","PMID:19686410
 著者        Aggarwal R, Naik S
 タイトル      Epidemiology of hepatitis E: current status.
 雑誌        J Gastroenterol Hepatol 24:1484-93 (2009)
 DOI:10.1111/j.1440-1746.2009.05933.x
 PMID:21458513
 著者        Aggarwal R
 タイトル      Clinical presentation of hepatitis E.
 雑誌        Virus Res 161:15-22 (2011)
 DOI:10.1016/j.virusres.2011.03.017
 PMID:21932388
 著者        Aggarwal R, Jameel S
 タイトル      Hepatitis E.
 雑誌        Hepatology 54:2218-26 (2011)
 DOI:10.1002/hep.24674","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00415"">H00415</a>","E型肝炎
 上位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]
 劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]",Hepatitis E is an infectious disease caused by hepatitis E virus (HEV) belonging to the Hepeviridae family of +ssRNA viruses. HEV is transmitted through the fecal-oral route.,,,"Hepatitis E virus (HEV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40067"">T40067</a>]",,,,,"ICD-11: 1E50.4 1E51.3
 ICD-10: B17.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016751"">D016751</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19686410"">19686410</a>
 著者        Aggarwal R, Naik S
 タイトル      Epidemiology of hepatitis E: current status.
 雑誌        J Gastroenterol Hepatol 24:1484-93 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1746.2009.05933.x"">10.1111/j.1440-1746.2009.05933.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21458513"">21458513</a>
 著者        Aggarwal R
 タイトル      Clinical presentation of hepatitis E.
 雑誌        Virus Res 161:15-22 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.virusres.2011.03.017"">10.1016/j.virusres.2011.03.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21932388"">21932388</a>
 著者        Aggarwal R, Jameel S
 タイトル      Hepatitis E.
 雑誌        Hepatology 54:2218-26 (2011)
 DOI:<a href=""https://doi.org/10.1002/hep.24674"">10.1002/hep.24674</a>"
H00416,"オムスク出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor reticulatus ticks are the main vector of Omsk hemorrhagic fever virus, but people are mainly infected after contact with infected muskrats (Ondatra zibethicus).",感染症,,,Omsk hemorrhagic fever virus [GN:T40058],,,,Vector: Dermacentor reticulatus (tick),"ICD-11: 1D4A
 ICD-10: A98.1
 MeSH: D006481","PMID:20850178
 著者        Ruzek D, Yakimenko VV, Karan LS, Tkachev SE
 タイトル      Omsk haemorrhagic fever.
 雑誌        Lancet 376:2104-13 (2010)
 DOI:10.1016/S0140-6736(10)61120-8
 PMID:18262042
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:10.1016/S0140-6736(08)60238-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00416"">H00416</a>","オムスク出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor reticulatus ticks are the main vector of Omsk hemorrhagic fever virus, but people are mainly infected after contact with infected muskrats (Ondatra zibethicus).",,,"Omsk hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40058"">T40058</a>]",,,,Vector: Dermacentor reticulatus (tick),"ICD-11: 1D4A
 ICD-10: A98.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006481"">D006481</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20850178"">20850178</a>
 著者        Ruzek D, Yakimenko VV, Karan LS, Tkachev SE
 タイトル      Omsk haemorrhagic fever.
 雑誌        Lancet 376:2104-13 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)61120-8"">10.1016/S0140-6736(10)61120-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18262042"">18262042</a>
 著者        Gould EA, Solomon T
 タイトル      Pathogenic flaviviruses.
 雑誌        Lancet 371:500-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60238-X"">10.1016/S0140-6736(08)60238-X</a>"
H00417,アルストレム症候群,,,"Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not yet known how this gene causes the disorder.",先天奇形,,ALMS1 [HSA:7840] [KO:K16741],,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 MeSH: D056769
 OMIM: 203800","PMID:18154657
 著者        Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN
 タイトル      Alstrom syndrome (OMIM 203800): a case report and literature review.
 雑誌        Orphanet J Rare Dis 2:49 (2007)
 DOI:10.1186/1750-1172-2-49
 PMID:17940554
 著者        Marshall JD, Beck S, Maffei P, Naggert JK
 タイトル      Alstrom syndrome.
 雑誌        Eur J Hum Genet 15:1193-202 (2007)
 DOI:10.1038/sj.ejhg.5201933","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00417"">H00417</a>",アルストレム症候群,"Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not yet known how this gene causes the disorder.",,"ALMS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7840"">7840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16741"">K16741</a>]",,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056769"">D056769</a>
 OMIM: <a href=""https://www.omim.org/entry/203800"">203800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18154657"">18154657</a>
 著者        Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN
 タイトル      Alstrom syndrome (OMIM 203800): a case report and literature review.
 雑誌        Orphanet J Rare Dis 2:49 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-49"">10.1186/1750-1172-2-49</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17940554"">17940554</a>
 著者        Marshall JD, Beck S, Maffei P, Naggert JK
 タイトル      Alstrom syndrome.
 雑誌        Eur J Hum Genet 15:1193-202 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201933"">10.1038/sj.ejhg.5201933</a>"
H00418,バルデ・ビードル症候群,,,"Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.",先天性代謝異常症,,"(BBS1) BBS1 [HSA:582] [KO:K16746]
 (BBS2) BBS2 [HSA:583] [KO:K16747]
 (BBS3) ARL6 [HSA:84100] [KO:K07951]
 (BBS4) BBS4 [HSA:585] [KO:K16531]
 (BBS5) BBS5 [HSA:129880] [KO:K16748]
 (BBS6) MKKS [HSA:8195] [KO:K09492]
 (BBS7) BBS7 [HSA:55212] [KO:K16749]
 (BBS8) TTC8 [HSA:123016] [KO:K16781]
 (BBS9) BBS9 [HSA:27241] [KO:K19398]
 (BBS10) BBS10 [HSA:79738] [KO:K19401]
 (BBS11) TRIM32 [HSA:22954] [KO:K10607]
 (BBS12) BBS12 [HSA:166379] [KO:K19402]
 (BBS13) MKS1 [HSA:54903] [KO:K19332]
 (BBS14) CEP290 [HSA:80184] [KO:K16533]
 (BBS15) WDPCP [HSA:51057] [KO:K22863]
 (BBS16) SDCCAG8 [HSA:10806] [KO:K16488]
 (BBS17) LZTFL1 [HSA:54585] [KO:K19400]
 (BBS18) BBIP1 [HSA:92482] [KO:K19399]
 (BBS19) IFT27 [HSA:11020] [KO:K07934]
 (BBS20) IFT172 [HSA:26160] [KO:K19676]
 (BBS21) C8orf37 [HSA:157657] [KO:K25226]
 (BBS22) IFT74 [HSA:80173] [KO:K19679]",,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 MeSH: D020788
 OMIM: 209900 617119 617406 619471","PMID:14976158
 著者        Katsanis N
 タイトル      The oligogenic properties of Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 13 Spec No 1:R65-71 (2004)
 DOI:10.1093/hmg/ddh092
 PMID:19252258
 著者        Zaghloul NA, Katsanis N
 タイトル      Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
 雑誌        J Clin Invest 119:428-37 (2009)
 DOI:10.1172/JCI37041
 PMID:12118255 (BBS1)
 著者        Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC
 タイトル      Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
 雑誌        Nat Genet 31:435-8 (2002)
 DOI:10.1038/ng935
 PMID:11285252 (BBS2)
 著者        Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC
 タイトル      Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
 雑誌        Hum Mol Genet 10:865-74 (2001)
 DOI:10.1093/hmg/10.8.865
 PMID:20142850 (ARL6 MMKS BBS12)
 著者        Pereiro I, Valverde D, Pineiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D
 タイトル      New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
 雑誌        Mol Vis 16:137-43 (2010)
 PMID:12016587 (BBS4)
 著者        Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR
 タイトル      BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
 雑誌        Am J Hum Genet 71:22-9 (2002)
 DOI:10.1086/341031
 PMID:18203199 (BBS5)
 著者        Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K
 タイトル      Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
 雑誌        Am J Med Genet A 146A:517-20 (2008)
 DOI:10.1002/ajmg.a.32136
 PMID:10973251 (MKKS)
 著者        Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR
 タイトル      Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
 雑誌        Nat Genet 26:67-70 (2000)
 DOI:10.1038/79201
 PMID:12567324 (BBS7)
 著者        Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N
 タイトル      Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
 雑誌        Am J Hum Genet 72:650-8 (2003)
 DOI:10.1086/368204
 PMID:16308660 (BBS8)
 著者        Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H
 タイトル      BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
 雑誌        J Hum Genet 51:81-84 (2006)
 DOI:10.1007/s10038-005-0320-2
 PMID:16380913 (BBS9)
 著者        Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC
 タイトル      Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
 雑誌        Am J Hum Genet 77:1021-33 (2005)
 DOI:10.1086/498323
 PMID:16582908 (BBS10)
 著者        Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H
 タイトル      BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
 雑誌        Nat Genet 38:521-4 (2006)
 DOI:10.1038/ng1771
 PMID:16606853 (TRIM32)
 著者        Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC
 タイトル      Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
 雑誌        Proc Natl Acad Sci U S A 103:6287-92 (2006)
 DOI:10.1073/pnas.0600158103
 PMID:18327255 (MKS1 CEP290)
 著者        Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N
 タイトル      Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
 雑誌        Nat Genet 40:443-8 (2008)
 DOI:10.1038/ng.97
 PMID:20671153 (BBS15)
 著者        Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA, Johnson CA, Attie-Bittach T, Katsanis N, Wallingford JB
 タイトル      Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
 雑誌        Science 329:1337-40 (2010)
 DOI:10.1126/science.1191184
 PMID:22626039 (SDCCAG8)
 著者        Billingsley G, Vincent A, Deveault C, Heon E
 タイトル      Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
 雑誌        Ophthalmic Genet 33:150-4 (2012)
 DOI:10.3109/13816810.2012.689411
 PMID:22510444 (LZTFL1)
 著者        Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H
 タイトル      Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
 雑誌        J Med Genet 49:317-21 (2012)
 DOI:10.1136/jmedgenet-2012-100737
 PMID:24026985 (BBIP1)
 著者        Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H
 タイトル      Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
 雑誌        J Med Genet 51:132-6 (2014)
 DOI:10.1136/jmedgenet-2013-101785
 PMID:24488770 (IFT27)
 著者        Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS
 タイトル      IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 23:3307-15 (2014)
 DOI:10.1093/hmg/ddu044
 PMID:27486776 (IFT74)
 著者        Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N
 タイトル      Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
 雑誌        Am J Hum Genet 99:318-36 (2016)
 DOI:10.1016/j.ajhg.2015.04.023
 PMID:27008867 (C8ORF37)
 著者        Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC
 タイトル      Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
 雑誌        Hum Mol Genet 25:2283-2294 (2016)
 DOI:10.1093/hmg/ddw096
 PMID:25168386 (IFT172)
 著者        Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA
 タイトル      Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 24:230-42 (2015)
 DOI:10.1093/hmg/ddu441","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00418"">H00418</a>",バルデ・ビードル症候群,"Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.",,"(BBS1) BBS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:582"">582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16746"">K16746</a>]
 (BBS2) BBS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:583"">583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16747"">K16747</a>]
 (BBS3) ARL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84100"">84100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07951"">K07951</a>]
 (BBS4) BBS4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:585"">585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16531"">K16531</a>]
 (BBS5) BBS5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:129880"">129880</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16748"">K16748</a>]
 (BBS6) MKKS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8195"">8195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09492"">K09492</a>]
 (BBS7) BBS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55212"">55212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16749"">K16749</a>]
 (BBS8) TTC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123016"">123016</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16781"">K16781</a>]
 (BBS9) BBS9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27241"">27241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19398"">K19398</a>]
 (BBS10) BBS10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79738"">79738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19401"">K19401</a>]
 (BBS11) TRIM32 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22954"">22954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10607"">K10607</a>]
 (BBS12) BBS12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:166379"">166379</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19402"">K19402</a>]
 (BBS13) MKS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54903"">54903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19332"">K19332</a>]
 (BBS14) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (BBS15) WDPCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51057"">51057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22863"">K22863</a>]
 (BBS16) SDCCAG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10806"">10806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16488"">K16488</a>]
 (BBS17) LZTFL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54585"">54585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19400"">K19400</a>]
 (BBS18) BBIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92482"">92482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19399"">K19399</a>]
 (BBS19) IFT27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11020"">11020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07934"">K07934</a>]
 (BBS20) IFT172 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26160"">26160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19676"">K19676</a>]
 (BBS21) C8orf37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157657"">157657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25226"">K25226</a>]
 (BBS22) IFT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80173"">80173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19679"">K19679</a>]",,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020788"">D020788</a>
 OMIM: <a href=""https://www.omim.org/entry/209900"">209900</a> <a href=""https://www.omim.org/entry/617119"">617119</a> <a href=""https://www.omim.org/entry/617406"">617406</a> <a href=""https://www.omim.org/entry/619471"">619471</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14976158"">14976158</a>
 著者        Katsanis N
 タイトル      The oligogenic properties of Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 13 Spec No 1:R65-71 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh092"">10.1093/hmg/ddh092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19252258"">19252258</a>
 著者        Zaghloul NA, Katsanis N
 タイトル      Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
 雑誌        J Clin Invest 119:428-37 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI37041"">10.1172/JCI37041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12118255"">12118255</a> (BBS1)
 著者        Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC
 タイトル      Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
 雑誌        Nat Genet 31:435-8 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng935"">10.1038/ng935</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11285252"">11285252</a> (BBS2)
 著者        Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC
 タイトル      Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
 雑誌        Hum Mol Genet 10:865-74 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.8.865"">10.1093/hmg/10.8.865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20142850"">20142850</a> (ARL6 <a href=""https://pubmed.ncbi.nlm.nih.gov/MMKS"">MMKS</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/BBS12)"">BBS12)</a>
 著者        Pereiro I, Valverde D, Pineiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D
 タイトル      New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
 雑誌        Mol Vis 16:137-43 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12016587"">12016587</a> (BBS4)
 著者        Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR
 タイトル      BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
 雑誌        Am J Hum Genet 71:22-9 (2002)
 DOI:<a href=""https://doi.org/10.1086/341031"">10.1086/341031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203199"">18203199</a> (BBS5)
 著者        Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K
 タイトル      Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
 雑誌        Am J Med Genet A 146A:517-20 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32136"">10.1002/ajmg.a.32136</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973251"">10973251</a> (MKKS)
 著者        Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR
 タイトル      Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
 雑誌        Nat Genet 26:67-70 (2000)
 DOI:<a href=""https://doi.org/10.1038/79201"">10.1038/79201</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12567324"">12567324</a> (BBS7)
 著者        Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N
 タイトル      Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
 雑誌        Am J Hum Genet 72:650-8 (2003)
 DOI:<a href=""https://doi.org/10.1086/368204"">10.1086/368204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16308660"">16308660</a> (BBS8)
 著者        Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H
 タイトル      BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
 雑誌        J Hum Genet 51:81-84 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10038-005-0320-2"">10.1007/s10038-005-0320-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16380913"">16380913</a> (BBS9)
 著者        Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC
 タイトル      Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
 雑誌        Am J Hum Genet 77:1021-33 (2005)
 DOI:<a href=""https://doi.org/10.1086/498323"">10.1086/498323</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16582908"">16582908</a> (BBS10)
 著者        Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H
 タイトル      BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
 雑誌        Nat Genet 38:521-4 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1771"">10.1038/ng1771</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16606853"">16606853</a> (TRIM32)
 著者        Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC
 タイトル      Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
 雑誌        Proc Natl Acad Sci U S A 103:6287-92 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0600158103"">10.1073/pnas.0600158103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18327255"">18327255</a> (MKS1 <a href=""https://pubmed.ncbi.nlm.nih.gov/CEP290)"">CEP290)</a>
 著者        Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N
 タイトル      Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
 雑誌        Nat Genet 40:443-8 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.97"">10.1038/ng.97</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20671153"">20671153</a> (BBS15)
 著者        Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA, Johnson CA, Attie-Bittach T, Katsanis N, Wallingford JB
 タイトル      Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
 雑誌        Science 329:1337-40 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1191184"">10.1126/science.1191184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22626039"">22626039</a> (SDCCAG8)
 著者        Billingsley G, Vincent A, Deveault C, Heon E
 タイトル      Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
 雑誌        Ophthalmic Genet 33:150-4 (2012)
 DOI:<a href=""https://doi.org/10.3109/13816810.2012.689411"">10.3109/13816810.2012.689411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22510444"">22510444</a> (LZTFL1)
 著者        Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H
 タイトル      Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
 雑誌        J Med Genet 49:317-21 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100737"">10.1136/jmedgenet-2012-100737</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24026985"">24026985</a> (BBIP1)
 著者        Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H
 タイトル      Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
 雑誌        J Med Genet 51:132-6 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101785"">10.1136/jmedgenet-2013-101785</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24488770"">24488770</a> (IFT27)
 著者        Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS
 タイトル      IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 23:3307-15 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu044"">10.1093/hmg/ddu044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27486776"">27486776</a> (IFT74)
 著者        Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N
 タイトル      Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
 雑誌        Am J Hum Genet 99:318-36 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.023"">10.1016/j.ajhg.2015.04.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27008867"">27008867</a> (C8ORF37)
 著者        Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC
 タイトル      Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
 雑誌        Hum Mol Genet 25:2283-2294 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw096"">10.1093/hmg/ddw096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25168386"">25168386</a> (IFT172)
 著者        Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA
 タイトル      Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 24:230-42 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu441"">10.1093/hmg/ddu441</a>"
H00419,"先天性全身性リポジストロフィー
 上位グループ    脂肪萎縮症 [DS:H01475]",,,"Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes.",先天性代謝異常症,,"(CGL1) AGPAT2 [HSA:10555] [KO:K13509]
 (CGL2) BSCL2 [HSA:26580] [KO:K19365]
 (CGL3) CAV1 [HSA:857] [KO:K06278]
 (CGL4) PTRF [HSA:284119] [KO:K19387]",,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: D052497
 OMIM: 269700 608594 612526 613327","PMID:19494770
 著者        Simha V, Garg A
 タイトル      Inherited lipodystrophies and hypertriglyceridemia.
 雑誌        Curr Opin Lipidol 20:300-8 (2009)
 DOI:10.1097/MOL.0b013e32832d4a33
 PMID:19167372
 著者        Gomes KB, Pardini VC, Fernandes AP
 タイトル      Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
 雑誌        Clin Chim Acta 402:1-6 (2009)
 DOI:10.1016/j.cca.2008.12.032
 PMID:19162222
 著者        Garg A, Agarwal AK
 タイトル      Lipodystrophies: disorders of adipose tissue biology.
 雑誌        Biochim Biophys Acta 1791:507-13 (2009)
 DOI:10.1016/j.bbalip.2008.12.014
 PMID:19726876
 著者        Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I
 タイトル      Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
 雑誌        J Clin Invest 119:2623-33 (2009)
 DOI:10.1172/JCI38660","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00419"">H00419</a>","先天性全身性リポジストロフィー
 上位グループ    脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01475"">H01475</a>]","Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes.",,"(CGL1) AGPAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10555"">10555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13509"">K13509</a>]
 (CGL2) BSCL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26580"">26580</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19365"">K19365</a>]
 (CGL3) CAV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:857"">857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06278"">K06278</a>]
 (CGL4) PTRF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284119"">284119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19387"">K19387</a>]",,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052497"">D052497</a>
 OMIM: <a href=""https://www.omim.org/entry/269700"">269700</a> <a href=""https://www.omim.org/entry/608594"">608594</a> <a href=""https://www.omim.org/entry/612526"">612526</a> <a href=""https://www.omim.org/entry/613327"">613327</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19494770"">19494770</a>
 著者        Simha V, Garg A
 タイトル      Inherited lipodystrophies and hypertriglyceridemia.
 雑誌        Curr Opin Lipidol 20:300-8 (2009)
 DOI:<a href=""https://doi.org/10.1097/MOL.0b013e32832d4a33"">10.1097/MOL.0b013e32832d4a33</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19167372"">19167372</a>
 著者        Gomes KB, Pardini VC, Fernandes AP
 タイトル      Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
 雑誌        Clin Chim Acta 402:1-6 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2008.12.032"">10.1016/j.cca.2008.12.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19162222"">19162222</a>
 著者        Garg A, Agarwal AK
 タイトル      Lipodystrophies: disorders of adipose tissue biology.
 雑誌        Biochim Biophys Acta 1791:507-13 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2008.12.014"">10.1016/j.bbalip.2008.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19726876"">19726876</a>
 著者        Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I
 タイトル      Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
 雑誌        J Clin Invest 119:2623-33 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI38660"">10.1172/JCI38660</a>"
H00420,"家族性部分型リポジストロフィー
 下位グループ    Kobberling 型リポジストロフィー (FPLD1)
 Dunnigan型 リポジストロフィー (FPLD2)
 Dunnigan 型様リポジストロフィー (FPLD3)
 後天性部分型リポジストロフィー (APLD)
 AKT2 変異に伴うリポジストロフィー
 上位グループ    脂肪萎縮症 [DS:H01475]",,,"Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.",先天性代謝異常症,,"(FPLD2) LMNA [HSA:4000] [KO:K12641]
 (FPLD3) PPARG [HSA:5468] [KO:K08530]
 (FPLD4) PLIN1 [HSA:5346] [KO:K08768]
 (FPLD5) CIDEC [HSA:63924] [KO:K25878]
 (FPLD6) LIPE [HSA:3991] [KO:K07188]
 (FPLD7) CAV1 [HSA:857] [KO:K06278]
 (APLD) LMNB2 [HSA:84823] [KO:K07611]
 AKT2 [HSA:208] [KO:K04456]",,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: D052496
 OMIM: 608600 151660 604367 613877 615238 615980 608709 606721","PMID:19494770
 著者        Simha V, Garg A
 タイトル      Inherited lipodystrophies and hypertriglyceridemia.
 雑誌        Curr Opin Lipidol 20:300-8 (2009)
 DOI:10.1097/MOL.0b013e32832d4a33
 PMID:19162222
 著者        Garg A, Agarwal AK
 タイトル      Lipodystrophies: disorders of adipose tissue biology.
 雑誌        Biochim Biophys Acta 1791:507-13 (2009)
 DOI:10.1016/j.bbalip.2008.12.014
 PMID:12074822
 著者        Bhayana S, Hegele RA
 タイトル      The molecular basis of genetic lipodystrophies.
 雑誌        Clin Biochem 35:171-7 (2002)
 DOI:10.1016/S0009-9120(02)00297-7
 PMID:10587585 (LMNA)
 著者        Cao H, Hegele RA
 タイトル      Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
 雑誌        Hum Mol Genet 9:109-12 (2000)
 DOI:10.1093/hmg/9.1.109
 PMID:10622252 (PPARG)
 著者        Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, Chatterjee VK, O'Rahilly S
 タイトル      Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
 雑誌        Nature 402:880-3 (1999)
 DOI:10.1038/47254
 PMID:21345103 (PLIN1)
 著者        Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delepine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magre J, Savage DB, Vigouroux C
 タイトル      Perilipin deficiency and autosomal dominant partial lipodystrophy.
 雑誌        N Engl J Med 364:740-8 (2011)
 DOI:10.1056/NEJMoa1007487
 PMID:20049731 (CIDEC)
 著者        Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magre J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB
 タイトル      Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
 雑誌        EMBO Mol Med 1:280-7 (2009)
 DOI:10.1002/emmm.200900037
 PMID:24848981 (LIPE)
 著者        Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM
 タイトル      Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.
 雑誌        N Engl J Med 370:2307-2315 (2014)
 DOI:10.1056/NEJMoa1315496
 PMID:18237401 (CAV1)
 著者        Cao H, Alston L, Ruschman J, Hegele RA
 タイトル      Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
 雑誌        Lipids Health Dis 7:3 (2008)
 DOI:10.1186/1476-511X-7-3
 PMID:16826530 (LMNB2)
 著者        Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
 タイトル      Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
 雑誌        Am J Hum Genet 79:383-9 (2006)
 DOI:10.1086/505885
 PMID:19164855 (AKT2)
 著者        Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB
 タイトル      Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
 雑誌        J Clin Invest 119:315-22 (2009)
 DOI:10.1172/JCI37432","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00420"">H00420</a>","家族性部分型リポジストロフィー
 下位グループ    Kobberling 型リポジストロフィー (FPLD1)
 Dunnigan型 リポジストロフィー (FPLD2)
 Dunnigan 型様リポジストロフィー (FPLD3)
 後天性部分型リポジストロフィー (APLD)
 AKT2 変異に伴うリポジストロフィー
 上位グループ    脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01475"">H01475</a>]","Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.",,"(FPLD2) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (FPLD3) PPARG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5468"">5468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08530"">K08530</a>]
 (FPLD4) PLIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5346"">5346</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08768"">K08768</a>]
 (FPLD5) CIDEC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63924"">63924</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25878"">K25878</a>]
 (FPLD6) LIPE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3991"">3991</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07188"">K07188</a>]
 (FPLD7) CAV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:857"">857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06278"">K06278</a>]
 (APLD) LMNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84823"">84823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07611"">K07611</a>]
 AKT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:208"">208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]",,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052496"">D052496</a>
 OMIM: <a href=""https://www.omim.org/entry/608600"">608600</a> <a href=""https://www.omim.org/entry/151660"">151660</a> <a href=""https://www.omim.org/entry/604367"">604367</a> <a href=""https://www.omim.org/entry/613877"">613877</a> <a href=""https://www.omim.org/entry/615238"">615238</a> <a href=""https://www.omim.org/entry/615980"">615980</a> <a href=""https://www.omim.org/entry/608709"">608709</a> <a href=""https://www.omim.org/entry/606721"">606721</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19494770"">19494770</a>
 著者        Simha V, Garg A
 タイトル      Inherited lipodystrophies and hypertriglyceridemia.
 雑誌        Curr Opin Lipidol 20:300-8 (2009)
 DOI:<a href=""https://doi.org/10.1097/MOL.0b013e32832d4a33"">10.1097/MOL.0b013e32832d4a33</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19162222"">19162222</a>
 著者        Garg A, Agarwal AK
 タイトル      Lipodystrophies: disorders of adipose tissue biology.
 雑誌        Biochim Biophys Acta 1791:507-13 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2008.12.014"">10.1016/j.bbalip.2008.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12074822"">12074822</a>
 著者        Bhayana S, Hegele RA
 タイトル      The molecular basis of genetic lipodystrophies.
 雑誌        Clin Biochem 35:171-7 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0009-9120(02)00297-7"">10.1016/S0009-9120(02)00297-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10587585"">10587585</a> (LMNA)
 著者        Cao H, Hegele RA
 タイトル      Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
 雑誌        Hum Mol Genet 9:109-12 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.1.109"">10.1093/hmg/9.1.109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10622252"">10622252</a> (PPARG)
 著者        Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, Chatterjee VK, O'Rahilly S
 タイトル      Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
 雑誌        Nature 402:880-3 (1999)
 DOI:<a href=""https://doi.org/10.1038/47254"">10.1038/47254</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21345103"">21345103</a> (PLIN1)
 著者        Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delepine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magre J, Savage DB, Vigouroux C
 タイトル      Perilipin deficiency and autosomal dominant partial lipodystrophy.
 雑誌        N Engl J Med 364:740-8 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1007487"">10.1056/NEJMoa1007487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20049731"">20049731</a> (CIDEC)
 著者        Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magre J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB
 タイトル      Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
 雑誌        EMBO Mol Med 1:280-7 (2009)
 DOI:<a href=""https://doi.org/10.1002/emmm.200900037"">10.1002/emmm.200900037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24848981"">24848981</a> (LIPE)
 著者        Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM
 タイトル      Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.
 雑誌        N Engl J Med 370:2307-2315 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1315496"">10.1056/NEJMoa1315496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18237401"">18237401</a> (CAV1)
 著者        Cao H, Alston L, Ruschman J, Hegele RA
 タイトル      Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
 雑誌        Lipids Health Dis 7:3 (2008)
 DOI:<a href=""https://doi.org/10.1186/1476-511X-7-3"">10.1186/1476-511X-7-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826530"">16826530</a> (LMNB2)
 著者        Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
 タイトル      Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
 雑誌        Am J Hum Genet 79:383-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/505885"">10.1086/505885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19164855"">19164855</a> (AKT2)
 著者        Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB
 タイトル      Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
 雑誌        J Clin Invest 119:315-22 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI37432"">10.1172/JCI37432</a>"
H00421,"ムコ多糖症
 下位グループ    ハーラー・シャイエ症候群 (MPS1) [DS:H00128]
 ハンター症候群 (MPS2) [DS:H00129]
 サンフィリポ症候群 (MPS3) [DS:H00130]
 モルキオ症候群 (MPS4) [DS:H00123]
 マロトー・ラミー症候群 (MPS6) [DS:H00131]
 スライ症候群 (MPS7) [DS:H00132]
 ヒアルロニダーゼ欠損症 (MPS9) [DS:H00133]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is an X-linked disease and the others are autosomal recessive diseases. The enzyme defects result in the accumulation of glycosaminoglycans such as heparan sulfate, dermatan sulfate, and keratan sulfate in many organs, as well as elevated metabolite levels in urine. The MPS diseases share many clinical features that include organomegaly, dysostosis multiplex, decreased growth, and recurrent infections. Most of MPS diseases do not affect the nervous system, and are considered as potentially amenable to enzyme replacement therapy.",先天性代謝異常症; リソソーム蓄積症,nt06012  Glycosaminoglycan degradation,"(MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217]
 (MPS2) IDS; iduronate 2-sulfatase [HSA:3423] [KO:K01136]
 (MPS3A) SGSH; N-sulfoglucosamine sulfohydrolase [HSA:6448] [KO:K01565]
 (MPS3B) NAGLU; alpha-N-acetylglucosaminidase [HSA:4669] [KO:K01205]
 (MPS3C) HGSNAT; heparan-alpha-glucosaminide N-acetyltransferase [HSA:138050] [KO:K10532]
 (MPS3D) GNS; N-acetylglucosamine-6-sulfatase [HSA:2799] [KO:K01137]
 (MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132]
 (MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
 (MPS6) ARSB; arylsulfatase B [HSA:411] [KO:K01135]
 (MPS7) GUSB; beta-glucuronidase [HSA:2990] [KO:K01195]
 (MPS9) HYAL1; hyaluronoglucosaminidase [HSA:3373] [KO:K01197]",,,,,"The diagnosis is confirmed by measuring IDS activity in leukocytes or fibroblasts.
 Morquio syndrome B (MPS4B) is allelic to the various forms of GM1-gangliosidosis (see, H00281). The latter disorders show central nervous system involvement.","ICD-11: 5C56.3
 ICD-10: E76.0 E76.1 E76.2
 OMIM: 607015 607016 309900 252900 252920 252930 252940 253000 253010 253200 253220 601492","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:16124866
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:10.1146/annurev.genom.6.080604.162334
 PMID:15691212
 著者        Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA
 タイトル      Laronidase treatment of mucopolysaccharidosis I.
 雑誌        BioDrugs 19:1-7 (2005)
 DOI:10.2165/00063030-200519010-00001
 PMID:8680403 (MPS1)
 著者        Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ
 タイトル      Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
 雑誌        Hum Mutat 6:288-302 (1995)
 DOI:10.1002/humu.1380060403
 PMID:18618289 (MPS2)
 著者        Al Sawaf S, Mayatepek E, Hoffmann B
 タイトル      Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
 雑誌        J Inherit Metab Dis 31:473-80 (2008)
 DOI:10.1007/s10545-008-0878-x
 PMID:18392742 (MPS3)
 著者        Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
 タイトル      Sanfilippo syndrome: a mini-review.
 雑誌        J Inherit Metab Dis 31:240-52 (2008)
 DOI:10.1007/s10545-008-0838-5
 PMID:19472408 (MPS4B)
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:10.1002/humu.21031
 PMID:17671068 (MPS6)
 著者        Giugliani R, Harmatz P, Wraith JE
 タイトル      Management guidelines for mucopolysaccharidosis VI.
 雑誌        Pediatrics 120:405-18 (2007)
 DOI:10.1542/peds.2006-2184
 PMID:19224584 (MPS7)
 著者        Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS
 タイトル      Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
 雑誌        Hum Mutat 30:511-9 (2009)
 DOI:10.1002/humu.20828
 PMID:10339581 (MPS9)
 著者        Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
 タイトル      Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
 雑誌        Proc Natl Acad Sci U S A 96:6296-300 (1999)
 DOI:10.1073/pnas.96.11.6296","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>","ムコ多糖症
 下位グループ    ハーラー・シャイエ症候群 (MPS1) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00128"">H00128</a>]
 ハンター症候群 (MPS2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00129"">H00129</a>]
 サンフィリポ症候群 (MPS3) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00130"">H00130</a>]
 モルキオ症候群 (MPS4) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00123"">H00123</a>]
 マロトー・ラミー症候群 (MPS6) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00131"">H00131</a>]
 スライ症候群 (MPS7) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00132"">H00132</a>]
 ヒアルロニダーゼ欠損症 (MPS9) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00133"">H00133</a>]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is an X-linked disease and the others are autosomal recessive diseases. The enzyme defects result in the accumulation of glycosaminoglycans such as heparan sulfate, dermatan sulfate, and keratan sulfate in many organs, as well as elevated metabolite levels in urine. The MPS diseases share many clinical features that include organomegaly, dysostosis multiplex, decreased growth, and recurrent infections. Most of MPS diseases do not affect the nervous system, and are considered as potentially amenable to enzyme replacement therapy.","<a href=""https://www.kegg.jp/network/nt06012"">nt06012</a>  Glycosaminoglycan degradation","(MPS1) IDUA; alpha-L-iduronidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3425"">3425</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01217"">K01217</a>]
 (MPS2) IDS; iduronate 2-sulfatase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3423"">3423</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01136"">K01136</a>]
 (MPS3A) SGSH; N-sulfoglucosamine sulfohydrolase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6448"">6448</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01565"">K01565</a>]
 (MPS3B) NAGLU; alpha-N-acetylglucosaminidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4669"">4669</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01205"">K01205</a>]
 (MPS3C) HGSNAT; heparan-alpha-glucosaminide N-acetyltransferase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:138050"">138050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10532"">K10532</a>]
 (MPS3D) GNS; N-acetylglucosamine-6-sulfatase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2799"">2799</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01137"">K01137</a>]
 (MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2588"">2588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01132"">K01132</a>]
 (MPS4B) GLB1; beta-galactosidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]
 (MPS6) ARSB; arylsulfatase B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:411"">411</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01135"">K01135</a>]
 (MPS7) GUSB; beta-glucuronidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2990"">2990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01195"">K01195</a>]
 (MPS9) HYAL1; hyaluronoglucosaminidase [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3373"">3373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01197"">K01197</a>]",,,,,"The diagnosis is confirmed by measuring IDS activity in leukocytes or fibroblasts.
 Morquio syndrome B (MPS4B) is allelic to the various forms of GM1-gangliosidosis (see, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00281)."">H00281).</a> The latter disorders show central nervous system involvement.","ICD-11: 5C56.3
 ICD-10: E76.0 E76.1 E76.2
 OMIM: <a href=""https://www.omim.org/entry/607015"">607015</a> <a href=""https://www.omim.org/entry/607016"">607016</a> <a href=""https://www.omim.org/entry/309900"">309900</a> <a href=""https://www.omim.org/entry/252900"">252900</a> <a href=""https://www.omim.org/entry/252920"">252920</a> <a href=""https://www.omim.org/entry/252930"">252930</a> <a href=""https://www.omim.org/entry/252940"">252940</a> <a href=""https://www.omim.org/entry/253000"">253000</a> <a href=""https://www.omim.org/entry/253010"">253010</a> <a href=""https://www.omim.org/entry/253200"">253200</a> <a href=""https://www.omim.org/entry/253220"">253220</a> <a href=""https://www.omim.org/entry/601492"">601492</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16124866"">16124866</a>
 著者        Diez-Roux G, Ballabio A
 タイトル      Sulfatases and human disease.
 雑誌        Annu Rev Genomics Hum Genet 6:355-79 (2005)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.6.080604.162334"">10.1146/annurev.genom.6.080604.162334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15691212"">15691212</a>
 著者        Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA
 タイトル      Laronidase treatment of mucopolysaccharidosis I.
 雑誌        BioDrugs 19:1-7 (2005)
 DOI:<a href=""https://doi.org/10.2165/00063030-200519010-00001"">10.2165/00063030-200519010-00001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8680403"">8680403</a> (MPS1)
 著者        Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ
 タイトル      Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
 雑誌        Hum Mutat 6:288-302 (1995)
 DOI:<a href=""https://doi.org/10.1002/humu.1380060403"">10.1002/humu.1380060403</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18618289"">18618289</a> (MPS2)
 著者        Al Sawaf S, Mayatepek E, Hoffmann B
 タイトル      Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
 雑誌        J Inherit Metab Dis 31:473-80 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-008-0878-x"">10.1007/s10545-008-0878-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18392742"">18392742</a> (MPS3)
 著者        Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
 タイトル      Sanfilippo syndrome: a mini-review.
 雑誌        J Inherit Metab Dis 31:240-52 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-008-0838-5"">10.1007/s10545-008-0838-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19472408"">19472408</a> (MPS4B)
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21031"">10.1002/humu.21031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17671068"">17671068</a> (MPS6)
 著者        Giugliani R, Harmatz P, Wraith JE
 タイトル      Management guidelines for mucopolysaccharidosis VI.
 雑誌        Pediatrics 120:405-18 (2007)
 DOI:<a href=""https://doi.org/10.1542/peds.2006-2184"">10.1542/peds.2006-2184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19224584"">19224584</a> (MPS7)
 著者        Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS
 タイトル      Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
 雑誌        Hum Mutat 30:511-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20828"">10.1002/humu.20828</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10339581"">10339581</a> (MPS9)
 著者        Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
 タイトル      Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
 雑誌        Proc Natl Acad Sci U S A 96:6296-300 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.11.6296"">10.1073/pnas.96.11.6296</a>"
H00422,"糖タンパク分解反応異常症
 下位グループ    シアリドーシス/ ムコリピドーシス1型 [DS:H00142]
 ガラクトシアリドーシス [DS:H00276]
 α-マンノース症 [DS:H00139]
 β-マンノース症 [DS:H00140]
 アスパルチルグルコサミン尿症 (AGU) [DS:H00145]
 フコシドーシス [DS:H00141]
 シンドラー・神崎病 [DS:H00146]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Glycoproteinoses is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes that play important roles in the degradation of glycoproteins such as N-linked or O-linked oligosaccharides. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded oligosaccharides in lysosomes. Glycoproteinoses share many clinical features such as mental retardation, coarse facies, and dysostosis multiplex. Cathepsin A-deficiency causes combined sialidase and beta-galactosidase deficiency (Sialidosis and Galactosialidosis) due to its function in stabilising these two hydrolases.",先天性代謝異常症; リソソーム蓄積症,,"(Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186]
 (Galactosialidosis) CTSA [HSA:5476] [KO:K13289]
 (Galactosialidosis) GLB1 [HSA:2720] [KO:K12309]
 (alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311]
 (beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192]
 (AGU) AGA [HSA:175] [KO:K01444]
 (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
 (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]",,,,,"The diagnosis is confirmed by measuring enzyme activity in leukocytes or fibroblasts.
 Some diseases are described as some phenotypes.
 (Sialidosis) Type 1: the mild form with late-onset. Type 2: the severe form with infantile onset.
 (Galactosialidosis) The early infantile type. The late infantile type. The juvenile/adult type.
 (alpha-Mannosidosis) Type 1: a severe form with hepatomegaly and early death. Type2: a mild form with hearing loss and mental retardation.
 (Fucosidosis) Type 1: a severe form. Type2: a mild form.
 (Schindler/ Kanzaki) Type1 (Schindler disease): a severe form. Type2 (Kanzaki disease): an adult-onset disorder. Type3: an intermediate disorder with mild-to-moderate neurologic manifestations.","ICD-11: 5C56.2
 ICD-10: E77.1
 OMIM: 256550 256540 248500 248510 208400 230000 609241 609242","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:14517945
 著者        Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV
 タイトル      Molecular pathology of NEU1 gene in sialidosis.
 雑誌        Hum Mutat 22:343-52 (2003)
 DOI:10.1002/humu.10268
 PMID:8985184 (Sialidosis, Galactosialidosis)
 著者        Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A
 タイトル      Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
 雑誌        Genes Dev 10:3156-69 (1996)
 DOI:10.1101/gad.10.24.3156
 PMID:10571005
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:10.1016/S0925-4439(99)00077-0
 PMID:16712870 (Sialidosis)
 著者        Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS
 タイトル      First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
 雑誌        J Neurol Sci 247:65-9 (2006)
 DOI:10.1016/j.jns.2006.03.013
 PMID:18651971 (alpha-Mannosidosis)
 著者        Malm D, Nilssen O
 タイトル      Alpha-mannosidosis.
 雑誌        Orphanet J Rare Dis 3:21 (2008)
 DOI:10.1186/1750-1172-3-21
 PMID:18980795 (beta-Mannosidosis)
 著者        Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T
 タイトル      Beta-mannosidosis: a new cause of spinocerebellar ataxia.
 雑誌        Clin Neurol Neurosurg 111:109-10 (2009)
 DOI:10.1016/j.clineuro.2008.09.007
 PMID:8405810 (AGU)
 著者        Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr
 タイトル      Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
 雑誌        FASEB J 7:1247-56 (1993)
 DOI:10.1096/fasebj.7.13.8405810
 PMID:10094192 (Fucosidosis)
 著者        Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
 タイトル      Spectrum of mutations in fucosidosis.
 雑誌        Eur J Hum Genet 7:60-7 (1999)
 DOI:10.1038/sj.ejhg.5200272
 PMID:17767638 (Fucosidosis)
 著者        Abdallah C, Hannallah R, McGill W
 タイトル      Anesthesia for fucosidosis.
 雑誌        Paediatr Anaesth 17:994-7 (2007)
 DOI:10.1111/j.1460-9592.2007.02269.x
 PMID:14685826
 著者        Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T
 タイトル      Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
 雑誌        J Hum Genet 49:1-8 (2004)
 DOI:10.1007/s10038-003-0098-z
 PMID:19683538 (Schindler/ Kanzaki)
 著者        Clark NE, Garman SC
 タイトル      The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
 雑誌        J Mol Biol 393:435-47 (2009)
 DOI:10.1016/j.jmb.2009.08.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>","糖タンパク分解反応異常症
 下位グループ    シアリドーシス/ ムコリピドーシス1型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00142"">H00142</a>]
 ガラクトシアリドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00276"">H00276</a>]
 α-マンノース症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00139"">H00139</a>]
 β-マンノース症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00140"">H00140</a>]
 アスパルチルグルコサミン尿症 (AGU) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00145"">H00145</a>]
 フコシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00141"">H00141</a>]
 シンドラー・神崎病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00146"">H00146</a>]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Glycoproteinoses is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes that play important roles in the degradation of glycoproteins such as N-linked or O-linked oligosaccharides. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded oligosaccharides in lysosomes. Glycoproteinoses share many clinical features such as mental retardation, coarse facies, and dysostosis multiplex. Cathepsin A-deficiency causes combined sialidase and beta-galactosidase deficiency (Sialidosis and Galactosialidosis) due to its function in stabilising these two hydrolases.",,"(Sialidosis, Galactosialidosis) NEU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4758"">4758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01186"">K01186</a>]
 (Galactosialidosis) CTSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5476"">5476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13289"">K13289</a>]
 (Galactosialidosis) GLB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]
 (alpha-Mannosidosis) MAN2B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4125"">4125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12311"">K12311</a>]
 (beta-Mannosidosis) MANBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4126"">4126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01192"">K01192</a>]
 (AGU) AGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:175"">175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01444"">K01444</a>]
 (Fucosidosis) FUCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2517"">2517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01206"">K01206</a>]
 (Schindler/ Kanzaki) NAGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4668"">4668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01204"">K01204</a>]",,,,,"The diagnosis is confirmed by measuring enzyme activity in leukocytes or fibroblasts.
 Some diseases are described as some phenotypes.
 (Sialidosis) Type 1: the mild form with late-onset. Type 2: the severe form with infantile onset.
 (Galactosialidosis) The early infantile type. The late infantile type. The juvenile/adult type.
 (alpha-Mannosidosis) Type 1: a severe form with hepatomegaly and early death. Type2: a mild form with hearing loss and mental retardation.
 (Fucosidosis) Type 1: a severe form. Type2: a mild form.
 (Schindler/ Kanzaki) Type1 (Schindler disease): a severe form. Type2 (Kanzaki disease): an adult-onset disorder. Type3: an intermediate disorder with mild-to-moderate neurologic manifestations.","ICD-11: 5C56.2
 ICD-10: E77.1
 OMIM: <a href=""https://www.omim.org/entry/256550"">256550</a> <a href=""https://www.omim.org/entry/256540"">256540</a> <a href=""https://www.omim.org/entry/248500"">248500</a> <a href=""https://www.omim.org/entry/248510"">248510</a> <a href=""https://www.omim.org/entry/208400"">208400</a> <a href=""https://www.omim.org/entry/230000"">230000</a> <a href=""https://www.omim.org/entry/609241"">609241</a> <a href=""https://www.omim.org/entry/609242"">609242</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14517945"">14517945</a>
 著者        Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV
 タイトル      Molecular pathology of NEU1 gene in sialidosis.
 雑誌        Hum Mutat 22:343-52 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10268"">10.1002/humu.10268</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8985184"">8985184</a> (Sialidosis, <a href=""https://pubmed.ncbi.nlm.nih.gov/Galactosialidosis)"">Galactosialidosis)</a>
 著者        Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A
 タイトル      Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
 雑誌        Genes Dev 10:3156-69 (1996)
 DOI:<a href=""https://doi.org/10.1101/gad.10.24.3156"">10.1101/gad.10.24.3156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571005"">10571005</a>
 著者        Michalski JC, Klein A
 タイトル      Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 雑誌        Biochim Biophys Acta 1455:69-84 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00077-0"">10.1016/S0925-4439(99)00077-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16712870"">16712870</a> (Sialidosis)
 著者        Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS
 タイトル      First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
 雑誌        J Neurol Sci 247:65-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2006.03.013"">10.1016/j.jns.2006.03.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18651971"">18651971</a> (alpha-Mannosidosis)
 著者        Malm D, Nilssen O
 タイトル      Alpha-mannosidosis.
 雑誌        Orphanet J Rare Dis 3:21 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-21"">10.1186/1750-1172-3-21</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18980795"">18980795</a> (beta-Mannosidosis)
 著者        Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T
 タイトル      Beta-mannosidosis: a new cause of spinocerebellar ataxia.
 雑誌        Clin Neurol Neurosurg 111:109-10 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.clineuro.2008.09.007"">10.1016/j.clineuro.2008.09.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8405810"">8405810</a> (AGU)
 著者        Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr
 タイトル      Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
 雑誌        FASEB J 7:1247-56 (1993)
 DOI:<a href=""https://doi.org/10.1096/fasebj.7.13.8405810"">10.1096/fasebj.7.13.8405810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10094192"">10094192</a> (Fucosidosis)
 著者        Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
 タイトル      Spectrum of mutations in fucosidosis.
 雑誌        Eur J Hum Genet 7:60-7 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200272"">10.1038/sj.ejhg.5200272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17767638"">17767638</a> (Fucosidosis)
 著者        Abdallah C, Hannallah R, McGill W
 タイトル      Anesthesia for fucosidosis.
 雑誌        Paediatr Anaesth 17:994-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9592.2007.02269.x"">10.1111/j.1460-9592.2007.02269.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14685826"">14685826</a>
 著者        Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T
 タイトル      Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
 雑誌        J Hum Genet 49:1-8 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0098-z"">10.1007/s10038-003-0098-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19683538"">19683538</a> (Schindler/ <a href=""https://pubmed.ncbi.nlm.nih.gov/Kanzaki)"">Kanzaki)</a>
 著者        Clark NE, Garman SC
 タイトル      The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
 雑誌        J Mol Biol 393:435-47 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jmb.2009.08.021"">10.1016/j.jmb.2009.08.021</a>"
H00423,"スフィンゴリピドーシス
 下位グループ    ガングリオシドーシス [DS:H00426]
 ファブリー病 [DS:H00125]
 ゴーシェ病 [DS:H00126]
 異染性白質ジストロフィー [DS:H00127]
 スフィンゴミエリン分解異常 [DS:H00424]
 クラッベ病 [DS:H00135]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.",先天性代謝異常症,nt06014  Sphingolipid degradation,"GLA [HSA:2717] [KO:K01189]
 GLB1 [HSA:2720] [KO:K12309]
 GBA [HSA:2629] [KO:K01201]
 ARSA [HSA:410] [KO:K01134]
 GALC [HSA:2581] [KO:K01202]
 SMPD1 [HSA:6609] [KO:K12350]
 ASAH1 [HSA:427] [KO:K12348]
 PSAP [HSA:5660] [KO:K12382]
 SUMF1 [HSA:285362] [KO:K13444]",,,,,,"ICD-11: 5C56.0
 ICD-10: E75.2
 OMIM: 250100 249900 245200 272200","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:18465098
 著者        Eckhardt M
 タイトル      The role and metabolism of sulfatide in the nervous system.
 雑誌        Mol Neurobiol 37:93-103 (2008)
 DOI:10.1007/s12035-008-8022-3
 PMID:16854371
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:10.1016/j.bbamem.2006.05.027
 PMID:17347913 (MLD)
 著者        Sevin C, Aubourg P, Cartier N
 タイトル      Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
 雑誌        J Inherit Metab Dis 30:175-83 (2007)
 DOI:10.1007/s10545-007-0540-z
 PMID:19267410 (MLD variant)
 著者        Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
 タイトル      Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
 雑誌        Am J Med Genet A 149A:613-21 (2009)
 DOI:10.1002/ajmg.a.32712
 PMID:10833326 (Krabbe)
 著者        Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
 タイトル      Krabbe disease: genetic aspects and progress toward therapy.
 雑誌        Mol Genet Metab 70:1-9 (2000)
 DOI:10.1006/mgme.2000.2990
 PMID:18157819 (MSD)
 著者        Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
 タイトル      Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
 雑誌        Hum Mutat 29:205 (2008)
 DOI:10.1002/humu.9515","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>","スフィンゴリピドーシス
 下位グループ    ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>]
 ファブリー病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00125"">H00125</a>]
 ゴーシェ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00126"">H00126</a>]
 異染性白質ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00127"">H00127</a>]
 スフィンゴミエリン分解異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00424"">H00424</a>]
 クラッベ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00135"">H00135</a>]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.","<a href=""https://www.kegg.jp/network/nt06014"">nt06014</a>  Sphingolipid degradation","GLA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2717"">2717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01189"">K01189</a>]
 GLB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]
 GBA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2629"">2629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01201"">K01201</a>]
 ARSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:410"">410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01134"">K01134</a>]
 GALC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2581"">2581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01202"">K01202</a>]
 SMPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6609"">6609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12350"">K12350</a>]
 ASAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:427"">427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12348"">K12348</a>]
 PSAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]
 SUMF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285362"">285362</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13444"">K13444</a>]",,,,,,"ICD-11: 5C56.0
 ICD-10: E75.2
 OMIM: <a href=""https://www.omim.org/entry/250100"">250100</a> <a href=""https://www.omim.org/entry/249900"">249900</a> <a href=""https://www.omim.org/entry/245200"">245200</a> <a href=""https://www.omim.org/entry/272200"">272200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18465098"">18465098</a>
 著者        Eckhardt M
 タイトル      The role and metabolism of sulfatide in the nervous system.
 雑誌        Mol Neurobiol 37:93-103 (2008)
 DOI:<a href=""https://doi.org/10.1007/s12035-008-8022-3"">10.1007/s12035-008-8022-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16854371"">16854371</a>
 著者        Kolter T, Sandhoff K
 タイトル      Sphingolipid metabolism diseases.
 雑誌        Biochim Biophys Acta 1758:2057-79 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.05.027"">10.1016/j.bbamem.2006.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17347913"">17347913</a> (MLD)
 著者        Sevin C, Aubourg P, Cartier N
 タイトル      Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
 雑誌        J Inherit Metab Dis 30:175-83 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0540-z"">10.1007/s10545-007-0540-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19267410"">19267410</a> (MLD <a href=""https://pubmed.ncbi.nlm.nih.gov/variant)"">variant)</a>
 著者        Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
 タイトル      Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
 雑誌        Am J Med Genet A 149A:613-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32712"">10.1002/ajmg.a.32712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10833326"">10833326</a> (Krabbe)
 著者        Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
 タイトル      Krabbe disease: genetic aspects and progress toward therapy.
 雑誌        Mol Genet Metab 70:1-9 (2000)
 DOI:<a href=""https://doi.org/10.1006/mgme.2000.2990"">10.1006/mgme.2000.2990</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18157819"">18157819</a> (MSD)
 著者        Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
 タイトル      Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
 雑誌        Hum Mutat 29:205 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.9515"">10.1002/humu.9515</a>"
H00424,"スフィンゴミエリン分解異常
 下位グループ    ニーマンピック病 A/B型 [DS:H00137]
 ファーバー脂肪性肉芽腫症 [DS:H00138]
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Defects in the degradation of sphingomyelin is a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD caused by deficient acid sphingomyelinase (ASM) activity, and Farber lipogranulomatosis is caused by acid ceramidase deficiency, resulting in accumulation of sphingomyelin, ceramide and cholesterol in many organs. ASM and acid ceramidase are key enzymes of the two steps degradation of sphingomyelin and play important roles in normal membrane turnover.",先天性代謝異常症; リソソーム蓄積症,,"(NPD) SMPD1 [HSA:6609] [KO:K12350]
 (Farber) ASAH1 [HSA:427] [KO:K12348]",,,,,"NPD typeA is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. NPD typeB is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 OMIM: 257200 607616 228000","PMID:18567738
 著者        Smith EL, Schuchman EH
 タイトル      The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
 雑誌        FASEB J 22:3419-31 (2008)
 DOI:10.1096/fj.08-108043
 PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:17632693
 著者        Schuchman EH
 タイトル      The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
 雑誌        J Inherit Metab Dis 30:654-63 (2007)
 DOI:10.1007/s10545-007-0632-9
 PMID:10760463
 著者        Ridgway ND
 タイトル      Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin.
 雑誌        Biochim Biophys Acta 1484:129-41 (2000)
 DOI:10.1016/S1388-1981(00)00006-8
 PMID:19944693 (NPC)
 著者        Schuchman EH
 タイトル      Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
 雑誌        FEBS Lett 584:1895-900 (2010)
 DOI:10.1016/j.febslet.2009.11.083
 PMID:17064658 (Farber)
 著者        Park JH, Schuchman EH
 タイトル      Acid ceramidase and human disease.
 雑誌        Biochim Biophys Acta 1758:2133-8 (2006)
 DOI:10.1016/j.bbamem.2006.08.019
 PMID:11241842 (Farber)
 著者        Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K
 タイトル      Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
 雑誌        Hum Mutat 17:199-209 (2001)
 DOI:10.1002/humu.5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00424"">H00424</a>","スフィンゴミエリン分解異常
 下位グループ    ニーマンピック病 A/B型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00137"">H00137</a>]
 ファーバー脂肪性肉芽腫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00138"">H00138</a>]
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Defects in the degradation of sphingomyelin is a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD caused by deficient acid sphingomyelinase (ASM) activity, and Farber lipogranulomatosis is caused by acid ceramidase deficiency, resulting in accumulation of sphingomyelin, ceramide and cholesterol in many organs. ASM and acid ceramidase are key enzymes of the two steps degradation of sphingomyelin and play important roles in normal membrane turnover.",,"(NPD) SMPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6609"">6609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12350"">K12350</a>]
 (Farber) ASAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:427"">427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12348"">K12348</a>]",,,,,"NPD typeA is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. NPD typeB is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.","ICD-11: 5C56.0Y
 ICD-10: E75.2
 OMIM: <a href=""https://www.omim.org/entry/257200"">257200</a> <a href=""https://www.omim.org/entry/607616"">607616</a> <a href=""https://www.omim.org/entry/228000"">228000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18567738"">18567738</a>
 著者        Smith EL, Schuchman EH
 タイトル      The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
 雑誌        FASEB J 22:3419-31 (2008)
 DOI:<a href=""https://doi.org/10.1096/fj.08-108043"">10.1096/fj.08-108043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17632693"">17632693</a>
 著者        Schuchman EH
 タイトル      The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
 雑誌        J Inherit Metab Dis 30:654-63 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0632-9"">10.1007/s10545-007-0632-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10760463"">10760463</a>
 著者        Ridgway ND
 タイトル      Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin.
 雑誌        Biochim Biophys Acta 1484:129-41 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(00)00006-8"">10.1016/S1388-1981(00)00006-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19944693"">19944693</a> (NPC)
 著者        Schuchman EH
 タイトル      Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
 雑誌        FEBS Lett 584:1895-900 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2009.11.083"">10.1016/j.febslet.2009.11.083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17064658"">17064658</a> (Farber)
 著者        Park JH, Schuchman EH
 タイトル      Acid ceramidase and human disease.
 雑誌        Biochim Biophys Acta 1758:2133-8 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2006.08.019"">10.1016/j.bbamem.2006.08.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11241842"">11241842</a> (Farber)
 著者        Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K
 タイトル      Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
 雑誌        Hum Mutat 17:199-209 (2001)
 DOI:<a href=""https://doi.org/10.1002/humu.5"">10.1002/humu.5</a>"
H00425,"リソソーム-システインプロテアーゼ異常疾患
 下位グループ    パピヨン-ルフェーブル病 [DS:H00274]
 濃化異骨症 [DS:H00273]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human diseases cathepsin deficiencies have been described, though there are eleven lysosomal cystein proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology.",先天性代謝異常症; 先天奇形,,"(PLS) CTSC [HSA:1075] [KO:K01275]
 (Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]",,,,,,"ICD-11: 5C56.Y
 ICD-10: Q82.8
 OMIM: 245000 265800","PMID:1883197
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:10.1146/annurev.bi.60.070191.001353
 PMID:15647514 (Description)
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:10.1093/glycob/cwi041
 PMID:9074757
 著者        Chapman HA, Riese RJ, Shi GP
 タイトル      Emerging roles for cysteine proteases in human biology.
 雑誌        Annu Rev Physiol 59:63-88 (1997)
 DOI:10.1146/annurev.physiol.59.1.63
 PMID:18401176 (PLS)
 著者        Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
 タイトル      Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
 雑誌        Dermatology 217:58-62 (2008)
 DOI:10.1159/000124340
 PMID:19338743 (Pycnodysostosis)
 著者        Zhao Q, Jia Y, Xiao Y
 タイトル      Cathepsin K: a therapeutic target for bone diseases.
 雑誌        Biochem Biophys Res Commun 380:721-3 (2009)
 DOI:10.1016/j.bbrc.2009.01.139
 PMID:14756243 (Pycnodysostosis)
 著者        Goto T, Yamaza T, Tanaka T
 タイトル      Cathepsins in the osteoclast.
 雑誌        J Electron Microsc (Tokyo) 52:551-8 (2003)
 DOI:10.1093/jmicro/52.6.551","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00425"">H00425</a>","リソソーム-システインプロテアーゼ異常疾患
 下位グループ    パピヨン-ルフェーブル病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00274"">H00274</a>]
 濃化異骨症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00273"">H00273</a>]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human diseases cathepsin deficiencies have been described, though there are eleven lysosomal cystein proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to pycnodysostosis characterized by osteosclerosis and short stature. Recent findings suggest a more expanded role for cathepsins in human biology.",,"(PLS) CTSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1075"">1075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01275"">K01275</a>]
 (Pycnodysostosis) CTSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1513"">1513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01371"">K01371</a>]",,,,,,"ICD-11: 5C56.Y
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/245000"">245000</a> <a href=""https://www.omim.org/entry/265800"">265800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1883197"">1883197</a>
 著者        Neufeld EF
 タイトル      Lysosomal storage diseases.
 雑誌        Annu Rev Biochem 60:257-80 (1991)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.60.070191.001353"">10.1146/annurev.bi.60.070191.001353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15647514"">15647514</a> (Description)
 著者        Winchester B
 タイトル      Lysosomal metabolism of glycoproteins.
 雑誌        Glycobiology 15:1R-15R (2005)
 DOI:<a href=""https://doi.org/10.1093/glycob/cwi041"">10.1093/glycob/cwi041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9074757"">9074757</a>
 著者        Chapman HA, Riese RJ, Shi GP
 タイトル      Emerging roles for cysteine proteases in human biology.
 雑誌        Annu Rev Physiol 59:63-88 (1997)
 DOI:<a href=""https://doi.org/10.1146/annurev.physiol.59.1.63"">10.1146/annurev.physiol.59.1.63</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18401176"">18401176</a> (PLS)
 著者        Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
 タイトル      Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
 雑誌        Dermatology 217:58-62 (2008)
 DOI:<a href=""https://doi.org/10.1159/000124340"">10.1159/000124340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19338743"">19338743</a> (Pycnodysostosis)
 著者        Zhao Q, Jia Y, Xiao Y
 タイトル      Cathepsin K: a therapeutic target for bone diseases.
 雑誌        Biochem Biophys Res Commun 380:721-3 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2009.01.139"">10.1016/j.bbrc.2009.01.139</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14756243"">14756243</a> (Pycnodysostosis)
 著者        Goto T, Yamaza T, Tanaka T
 タイトル      Cathepsins in the osteoclast.
 雑誌        J Electron Microsc (Tokyo) 52:551-8 (2003)
 DOI:<a href=""https://doi.org/10.1093/jmicro/52.6.551"">10.1093/jmicro/52.6.551</a>"
H00426,"ガングリオシドーシス
 下位グループ    GM1 ガングリオシドーシス [DS:H00281]
 GM2 ガングリオシドーシス [DS:H00124]
 上位グループ    スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes or their activators that play important roles in the degradation of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. And saposin C is an activator of beta-glucocerebrosidase.",先天性代謝異常症; リソソーム蓄積症,,"(GM1) GLB1 [HSA:2720] [KO:K12309]
 (GM2 type1) HEXA [HSA:3073] [KO:K12373]
 (GM2 type2) HEXB [HSA:3074] [KO:K12373]
 (GM2 AB variant) GM2A [HSA:2760] [KO:K12383]",,,,,"Morquio syndrome B is non-neuronopathic form of GM1-gangliosidosis (see, H00123).
 Some diseases are described as some phenotypes.
 (GM1) Type 1: the severe infantile form. Type 2: the juvenile form. Type 3 the mild adult form
 (Gaucher) Type 1: non-neuronopathic form. Type2: acute infantile neuropathic form. Type3: the chronic neuropathic form.","ICD-11: 5C56.00
 ICD-10: E75.1
 OMIM: 230500 230600 230650 268800 272800 272750","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005
 PMID:19472408 (GM1)
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:10.1002/humu.21031
 PMID:18202827 (GM1/ therapy)
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:10.1007/s00018-008-7470-2
 PMID:12019216 (GM2)
 著者        Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL
 タイトル      Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
 雑誌        Hum Mol Genet 11:1343-50 (2002)
 DOI:10.1093/hmg/11.11.1343
 PMID:16801539 (GM2)
 著者        Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM
 タイトル      Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
 雑誌        Proc Natl Acad Sci U S A 103:10373-8 (2006)
 DOI:10.1073/pnas.0603765103
 PMID:19595619
 著者        Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT
 タイトル      Substrate reduction therapy in juvenile GM2 gangliosidosis.
 雑誌        Mol Genet Metab 98:215-24 (2009)
 DOI:10.1016/j.ymgme.2009.06.005
 PMID:18339196 (Gaucher)
 著者        Platt FM, Jeyakumar M
 タイトル      Substrate reduction therapy.
 雑誌        Acta Paediatr Suppl 97:88-93 (2008)
 DOI:10.1111/j.1651-2227.2008.00656.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>","ガングリオシドーシス
 下位グループ    GM1 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00281"">H00281</a>]
 GM2 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00124"">H00124</a>]
 上位グループ    スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes or their activators that play important roles in the degradation of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. And saposin C is an activator of beta-glucocerebrosidase.",,"(GM1) GLB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2720"">2720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12309"">K12309</a>]
 (GM2 type1) HEXA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3073"">3073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]
 (GM2 type2) HEXB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3074"">3074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]
 (GM2 AB variant) GM2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2760"">2760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12383"">K12383</a>]",,,,,"Morquio syndrome B is non-neuronopathic form of GM1-gangliosidosis (see, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00123)."">H00123).</a>
 Some diseases are described as some phenotypes.
 (GM1) Type 1: the severe infantile form. Type 2: the juvenile form. Type 3 the mild adult form
 (Gaucher) Type 1: non-neuronopathic form. Type2: acute infantile neuropathic form. Type3: the chronic neuropathic form.","ICD-11: 5C56.00
 ICD-10: E75.1
 OMIM: <a href=""https://www.omim.org/entry/230500"">230500</a> <a href=""https://www.omim.org/entry/230600"">230600</a> <a href=""https://www.omim.org/entry/230650"">230650</a> <a href=""https://www.omim.org/entry/268800"">268800</a> <a href=""https://www.omim.org/entry/272800"">272800</a> <a href=""https://www.omim.org/entry/272750"">272750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19472408"">19472408</a> (GM1)
 著者        Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E
 タイトル      GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
 雑誌        Hum Mutat 30:1214-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21031"">10.1002/humu.21031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202827"">18202827</a> (GM1/ <a href=""https://pubmed.ncbi.nlm.nih.gov/therapy)"">therapy)</a>
 著者        Suzuki Y
 タイトル      Chemical chaperone therapy for GM1-gangliosidosis.
 雑誌        Cell Mol Life Sci 65:351-3 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00018-008-7470-2"">10.1007/s00018-008-7470-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12019216"">12019216</a> (GM2)
 著者        Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL
 タイトル      Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
 雑誌        Hum Mol Genet 11:1343-50 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.11.1343"">10.1093/hmg/11.11.1343</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16801539"">16801539</a> (GM2)
 著者        Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM
 タイトル      Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
 雑誌        Proc Natl Acad Sci U S A 103:10373-8 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603765103"">10.1073/pnas.0603765103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19595619"">19595619</a>
 著者        Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT
 タイトル      Substrate reduction therapy in juvenile GM2 gangliosidosis.
 雑誌        Mol Genet Metab 98:215-24 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.06.005"">10.1016/j.ymgme.2009.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18339196"">18339196</a> (Gaucher)
 著者        Platt FM, Jeyakumar M
 タイトル      Substrate reduction therapy.
 雑誌        Acta Paediatr Suppl 97:88-93 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2008.00656.x"">10.1111/j.1651-2227.2008.00656.x</a>"
H00427,回帰熱,,,"Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, but tick-borne relapsing fever still causes major health problems in Africa. The symptoms are variable. Although relapsing fever is considered a transient disease, it persists as a residual infection in the brain, which can be reactivated on immunosuppression.",感染症,,,"Borrelia recurrentis [GN:bre] (Louse-borne relapsing fever)
 Borrelia duttonii [GN:bdu] (Tick-borne relapsing fever)
 Borrelia hermsii [GN:bhr bhi] (Tick-borne relapsing fever)
 Borrelia turicatae [GN:btu] (Tick-borne relapsing fever)
 Borrelia crocidurae [GN:bcw] (Tick-borne relapsing fever)
 Borrelia coriaceae [GN:bcoi] (Tick-borne relapsing fever)
 Borrelia miyamotoi [GN:bmo] (Tick-borne relapsing fever)",,,"テトラサイクリン塩酸塩 [DR:D02122]
 ベンジルペニシリンカリウム [DR:D01053]","Vectors: Pediculus humanus (body louse), Ornithodoros moubata (African tick)","ICD-11: 1C1J
 ICD-10: A68
 MeSH: D012061
 MedlinePlus: 001350","PMID:19886891
 著者        Cutler SJ
 タイトル      Relapsing fever--a forgotten disease revealed.
 雑誌        J Appl Microbiol 108:1115-22 (2010)
 DOI:10.1111/j.1365-2672.2009.04598.x
 PMID:19623064
 著者        Larsson C, Andersson M, Bergstrom S
 タイトル      Current issues in relapsing fever.
 雑誌        Curr Opin Infect Dis 22:443-9 (2009)
 DOI:10.1097/QCO.0b013e32832fb22b
 PMID:16704771
 著者        Cutler SJ
 タイトル      Possibilities for relapsing fever reemergence.
 雑誌        Emerg Infect Dis 12:369-74 (2006)
 DOI:10.3201/eid1205.050899","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00427"">H00427</a>",回帰熱,"Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, but tick-borne relapsing fever still causes major health problems in Africa. The symptoms are variable. Although relapsing fever is considered a transient disease, it persists as a residual infection in the brain, which can be reactivated on immunosuppression.",,,"Borrelia recurrentis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bre"">bre</a>] (Louse-borne relapsing fever)
 Borrelia duttonii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bdu"">bdu</a>] (Tick-borne relapsing fever)
 Borrelia hermsii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bhr"">bhr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bhi"">bhi</a>] (Tick-borne relapsing fever)
 Borrelia turicatae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:btu"">btu</a>] (Tick-borne relapsing fever)
 Borrelia crocidurae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcw"">bcw</a>] (Tick-borne relapsing fever)
 Borrelia coriaceae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bcoi"">bcoi</a>] (Tick-borne relapsing fever)
 Borrelia miyamotoi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmo"">bmo</a>] (Tick-borne relapsing fever)",,,"テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]","Vectors: Pediculus humanus (body louse), Ornithodoros moubata (African tick)","ICD-11: 1C1J
 ICD-10: A68
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012061"">D012061</a>
 MedlinePlus: 001350","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19886891"">19886891</a>
 著者        Cutler SJ
 タイトル      Relapsing fever--a forgotten disease revealed.
 雑誌        J Appl Microbiol 108:1115-22 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2672.2009.04598.x"">10.1111/j.1365-2672.2009.04598.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19623064"">19623064</a>
 著者        Larsson C, Andersson M, Bergstrom S
 タイトル      Current issues in relapsing fever.
 雑誌        Curr Opin Infect Dis 22:443-9 (2009)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32832fb22b"">10.1097/QCO.0b013e32832fb22b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16704771"">16704771</a>
 著者        Cutler SJ
 タイトル      Possibilities for relapsing fever reemergence.
 雑誌        Emerg Infect Dis 12:369-74 (2006)
 DOI:<a href=""https://doi.org/10.3201/eid1205.050899"">10.3201/eid1205.050899</a>"
H00428,"尿細管性アシドーシス I 型 (遠位型)
 上位グループ    尿細管性アシドーシス [DS:H02310]",,,"Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and -recessive forms of dRTA are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H+-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4.",泌尿器系疾患,,"SLC4A1 [HSA:6521] [KO:K06573]
 ATP6V1B1 [HSA:525] [KO:K02147]
 ATP6V0A4 [HSA:50617] [KO:K02154]",,"Amphotericin B [CPD:C06573]
 Lithium [CPD:C15473]
 Analgesic abuse
 Toluene [CPD:C01455]
 Cyclamate
 Amiloride [CPD:C06821]
 Trimethoprim [CPD:C01965]
 Pentamidine [CPD:C07420]
 Vanadium [CPD:C06267]",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: D000141
 OMIM: 179800 267300 602722","PMID:19721811
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:10.2174/138920209787581262
 PMID:11045400
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:10.1007/s004670000407
 PMID:17557941
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:10.1152/physiol.00044.2006
 PMID:12138150 (SLC4A1, ATP6V1B1, ATP6V0A4)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:10.1097/01.ASN.0000023430.92674.E5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00428"">H00428</a>","尿細管性アシドーシス I 型 (遠位型)
 上位グループ    尿細管性アシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02310"">H02310</a>]","Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and -recessive forms of dRTA are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H+-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4.",,"SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]
 ATP6V1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:525"">525</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02147"">K02147</a>]
 ATP6V0A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50617"">50617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02154"">K02154</a>]",,"Amphotericin B [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06573"">C06573</a>]
 Lithium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C15473"">C15473</a>]
 Analgesic abuse
 Toluene [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01455"">C01455</a>]
 Cyclamate
 Amiloride [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06821"">C06821</a>]
 Trimethoprim [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01965"">C01965</a>]
 Pentamidine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07420"">C07420</a>]
 Vanadium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06267"">C06267</a>]",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000141"">D000141</a>
 OMIM: <a href=""https://www.omim.org/entry/179800"">179800</a> <a href=""https://www.omim.org/entry/267300"">267300</a> <a href=""https://www.omim.org/entry/602722"">602722</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19721811"">19721811</a>
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:<a href=""https://doi.org/10.2174/138920209787581262"">10.2174/138920209787581262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11045400"">11045400</a>
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004670000407"">10.1007/s004670000407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17557941"">17557941</a>
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:<a href=""https://doi.org/10.1152/physiol.00044.2006"">10.1152/physiol.00044.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12138150"">12138150</a> (SLC4A1, <a href=""https://pubmed.ncbi.nlm.nih.gov/ATP6V1B1,"">ATP6V1B1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ATP6V0A4)"">ATP6V0A4)</a>
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:<a href=""https://doi.org/10.1097/01.ASN.0000023430.92674.E5"">10.1097/01.ASN.0000023430.92674.E5</a>"
H00429,"尿細管性アシドーシス II 型 (近位型)
 上位グループ    尿細管性アシドーシス [DS:H02310]",,,"Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA.",泌尿器系疾患,,SLC4A4 [HSA:8671] [KO:K13575],,"Acetazolamide [CPD:C06805]
 Outdated tetracycline
 Aminoglycoside antibiotics
 Valproate
 6-Mercaptopurine [CPD:C02380]
 Streptozotocin [CPD:C07313]
 Iphosphamide
 Lead
 Cadmium [CPD:C01413]
 Mercury
 Arginine [CPD:C00062]
 Gentamicin
 Glue(toluene) [CPD:C01455]
 Maleic acid [CPD:C01384]
 Methyl-3-chromone",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: D000141
 OMIM: 604278","PMID:11045400
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:10.1007/s004670000407
 PMID:17557941
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:10.1152/physiol.00044.2006
 PMID:12138150 (SLC4A4)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:10.1097/01.ASN.0000023430.92674.E5
 PMID:10545938 (SLC4A4)
 著者        Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H
 タイトル      Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
 雑誌        Nat Genet 23:264-6 (1999)
 DOI:10.1038/15440","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00429"">H00429</a>","尿細管性アシドーシス II 型 (近位型)
 上位グループ    尿細管性アシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02310"">H02310</a>]","Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA.",,"SLC4A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8671"">8671</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13575"">K13575</a>]",,"Acetazolamide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06805"">C06805</a>]
 Outdated tetracycline
 Aminoglycoside antibiotics
 Valproate
 6-Mercaptopurine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C02380"">C02380</a>]
 Streptozotocin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07313"">C07313</a>]
 Iphosphamide
 Lead
 Cadmium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01413"">C01413</a>]
 Mercury
 Arginine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00062"">C00062</a>]
 Gentamicin
 Glue(toluene) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01455"">C01455</a>]
 Maleic acid [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01384"">C01384</a>]
 Methyl-3-chromone",,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000141"">D000141</a>
 OMIM: <a href=""https://www.omim.org/entry/604278"">604278</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11045400"">11045400</a>
 著者        Rodriguez-Soriano J
 タイトル      New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
 雑誌        Pediatr Nephrol 14:1121-36 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004670000407"">10.1007/s004670000407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17557941"">17557941</a>
 著者        Fry AC, Karet FE
 タイトル      Inherited renal acidoses.
 雑誌        Physiology (Bethesda) 22:202-11 (2007)
 DOI:<a href=""https://doi.org/10.1152/physiol.00044.2006"">10.1152/physiol.00044.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12138150"">12138150</a> (SLC4A4)
 著者        Rodriguez Soriano J
 タイトル      Renal tubular acidosis: the clinical entity.
 雑誌        J Am Soc Nephrol 13:2160-70 (2002)
 DOI:<a href=""https://doi.org/10.1097/01.ASN.0000023430.92674.E5"">10.1097/01.ASN.0000023430.92674.E5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10545938"">10545938</a> (SLC4A4)
 著者        Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H
 タイトル      Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
 雑誌        Nat Genet 23:264-6 (1999)
 DOI:<a href=""https://doi.org/10.1038/15440"">10.1038/15440</a>"
H00430,"進行性骨化性線維異形成症;
 進行性骨化線維増殖症",,,Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern.,筋骨格疾患,,ACVR1 (polymorphism) [HSA:90] [KO:K04675],,trauma,,,,"ICD-11: FB31.1
 ICD-10: M61.1
 MeSH: D009221
 OMIM: 135100","PMID:18328989
 著者        Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM
 タイトル      Fibrodysplasia ossificans progressiva.
 雑誌        Best Pract Res Clin Rheumatol 22:191-205 (2008)
 DOI:10.1016/j.berh.2007.11.007
 PMID:18590993
 著者        Shore EM, Kaplan FS
 タイトル      Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP).
 雑誌        Bone 43:427-33 (2008)
 DOI:10.1016/j.bone.2008.05.013
 PMID:16642017
 著者        Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS
 タイトル      A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
 雑誌        Nat Genet 38:525-7 (2006)
 DOI:10.1038/ng1783","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00430"">H00430</a>","進行性骨化性線維異形成症;
 進行性骨化線維増殖症",Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern.,,"ACVR1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90"">90</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04675"">K04675</a>]",,trauma,,,,"ICD-11: FB31.1
 ICD-10: M61.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009221"">D009221</a>
 OMIM: <a href=""https://www.omim.org/entry/135100"">135100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328989"">18328989</a>
 著者        Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM
 タイトル      Fibrodysplasia ossificans progressiva.
 雑誌        Best Pract Res Clin Rheumatol 22:191-205 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.007"">10.1016/j.berh.2007.11.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18590993"">18590993</a>
 著者        Shore EM, Kaplan FS
 タイトル      Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP).
 雑誌        Bone 43:427-33 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2008.05.013"">10.1016/j.bone.2008.05.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16642017"">16642017</a>
 著者        Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS
 タイトル      A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
 雑誌        Nat Genet 38:525-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1783"">10.1038/ng1783</a>"
H00431,後縦靭帯骨化症,,,"Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior longitudinal ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease.",筋骨格疾患,,"COL11A2 (polymorphism) [HSA:1302] [KO:K19721]
 NPPS [HSA:5167] [KO:K01513]
 COL6A1 (polymorphism) [HSA:1291] [KO:K06238]
 TGFB3 (polymorphism) [HSA:7043] [KO:K13377]",,"machanical stress
 nutrition
 glucose intolerance
 high body mass index",,"ダントロレンナトリウム水和物 [DR:D02274]
 バクロフェン [DR:D00241]
 アフロクアロン [DR:D01638]",,"ICD-11: FA83
 ICD-10: M48.8
 MeSH: D017887
 OMIM: 602475","PMID:9585596
 著者        Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M
 タイトル      Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
 雑誌        Am J Hum Genet 62:1460-7 (1998)
 DOI:10.1086/301868
 PMID:10453738
 著者        Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, Koyama T, Goto S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y
 タイトル      Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).
 雑誌        Hum Genet 104:492-7 (1999)
 DOI:10.1007/s004390050993
 PMID:12958705
 著者        Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I
 タイトル      Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
 雑誌        Am J Hum Genet 73:812-22 (2003)
 DOI:10.1086/378593
 PMID:16609882 (gene, env_factor)
 著者        Horikoshi T, Maeda K, Kawaguchi Y, Chiba K, Mori K, Koshizuka Y, Hirabayashi S, Sugimori K, Matsumoto M, Kawaguchi H, Takahashi M, Inoue H, Kimura T, Matsusue Y, Inoue I, Baba H, Nakamura K, Ikegawa S
 タイトル      A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
 雑誌        Hum Genet 119:611-6 (2006)
 DOI:10.1007/s00439-006-0170-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00431"">H00431</a>",後縦靭帯骨化症,"Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior longitudinal ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease.",,"COL11A2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 NPPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]
 COL6A1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1291"">1291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 TGFB3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]",,"machanical stress
 nutrition
 glucose intolerance
 high body mass index",,"ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]
 バクロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00241"">D00241</a>]
 アフロクアロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01638"">D01638</a>]",,"ICD-11: FA83
 ICD-10: M48.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017887"">D017887</a>
 OMIM: <a href=""https://www.omim.org/entry/602475"">602475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9585596"">9585596</a>
 著者        Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M
 タイトル      Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
 雑誌        Am J Hum Genet 62:1460-7 (1998)
 DOI:<a href=""https://doi.org/10.1086/301868"">10.1086/301868</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10453738"">10453738</a>
 著者        Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, Koyama T, Goto S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y
 タイトル      Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).
 雑誌        Hum Genet 104:492-7 (1999)
 DOI:<a href=""https://doi.org/10.1007/s004390050993"">10.1007/s004390050993</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12958705"">12958705</a>
 著者        Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I
 タイトル      Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
 雑誌        Am J Hum Genet 73:812-22 (2003)
 DOI:<a href=""https://doi.org/10.1086/378593"">10.1086/378593</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16609882"">16609882</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Horikoshi T, Maeda K, Kawaguchi Y, Chiba K, Mori K, Koshizuka Y, Hirabayashi S, Sugimori K, Matsumoto M, Kawaguchi H, Takahashi M, Inoue H, Kimura T, Matsusue Y, Inoue I, Baba H, Nakamura K, Ikegawa S
 タイトル      A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
 雑誌        Hum Genet 119:611-6 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-006-0170-9"">10.1007/s00439-006-0170-9</a>"
H00432,"遺伝性象牙質疾患
 下位グループ    象牙質形成不全症
 象牙質異形成症 [DS:H02348]",,,"Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506]. It has been shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP).",消化器系疾患,,DSPP [HSA:1834] [KO:K23573],,,,,,"ICD-11: LA30.Y
 ICD-10: K00.5
 OMIM: 125490 125500 125420","PMID:19021896
 著者        Barron MJ, McDonnell ST, Mackie I, Dixon MJ
 タイトル      Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
 雑誌        Orphanet J Rare Dis 3:31 (2008)
 DOI:10.1186/1750-1172-3-31
 PMID:17452557
 著者        Kim JW, Simmer JP
 タイトル      Hereditary dentin defects.
 雑誌        J Dent Res 86:392-9 (2007)
 DOI:10.1177/154405910708600502
 PMID:16955410
 著者        MacDougall M, Dong J, Acevedo AC
 タイトル      Molecular basis of human dentin diseases.
 雑誌        Am J Med Genet A 140:2536-46 (2006)
 DOI:10.1002/ajmg.a.31359","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00432"">H00432</a>","遺伝性象牙質疾患
 下位グループ    象牙質形成不全症
 象牙質異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02348"">H02348</a>]","Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00506]."">H00506].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:shown"">shown</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:genes"">genes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encoding"">encoding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:collagen"">collagen</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:type"">type</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:1,"">1,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:COL1A1"">COL1A1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:COL1A2,"">COL1A2,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:underlie"">underlie</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:this"">this</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:condition."">condition.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:All"">All</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:other"">other</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:forms"">forms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:DGI"">DGI</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:DD"">DD</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:except"">except</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:DD1,"">DD1,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:appear"">appear</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:result"">result</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encoding"">encoding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dentine"">dentine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sialophosphoprotein"">sialophosphoprotein</a> (DSPP).",,"DSPP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1834"">1834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23573"">K23573</a>]",,,,,,"ICD-11: LA30.Y
 ICD-10: K00.5
 OMIM: <a href=""https://www.omim.org/entry/125490"">125490</a> <a href=""https://www.omim.org/entry/125500"">125500</a> <a href=""https://www.omim.org/entry/125420"">125420</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19021896"">19021896</a>
 著者        Barron MJ, McDonnell ST, Mackie I, Dixon MJ
 タイトル      Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
 雑誌        Orphanet J Rare Dis 3:31 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-31"">10.1186/1750-1172-3-31</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17452557"">17452557</a>
 著者        Kim JW, Simmer JP
 タイトル      Hereditary dentin defects.
 雑誌        J Dent Res 86:392-9 (2007)
 DOI:<a href=""https://doi.org/10.1177/154405910708600502"">10.1177/154405910708600502</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16955410"">16955410</a>
 著者        MacDougall M, Dong J, Acevedo AC
 タイトル      Molecular basis of human dentin diseases.
 雑誌        Am J Med Genet A 140:2536-46 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31359"">10.1002/ajmg.a.31359</a>"
H00433,ホルト・オラム症候群,,,Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the T-box transcription factor TBX5.,先天奇形,,TBX5 [HSA:6910] [KO:K10179],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: C535326
 OMIM: 142900","PMID:12436037
 著者        Huang T
 タイトル      Current advances in Holt-Oram syndrome.
 雑誌        Curr Opin Pediatr 14:691-5 (2002)
 DOI:10.1097/00008480-200212000-00008
 PMID:15096952
 著者        Mori AD, Bruneau BG
 タイトル      TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
 雑誌        Curr Opin Cardiol 19:211-5 (2004)
 DOI:10.1097/00001573-200405000-00004
 PMID:12668595
 著者        Packham EA, Brook JD
 タイトル      T-box genes in human disorders.
 雑誌        Hum Mol Genet 12 Spec No 1:R37-44 (2003)
 DOI:10.1093/hmg/ddg077","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00433"">H00433</a>",ホルト・オラム症候群,Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the T-box transcription factor TBX5.,,"TBX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6910"">6910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10179"">K10179</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535326"">C535326</a>
 OMIM: <a href=""https://www.omim.org/entry/142900"">142900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12436037"">12436037</a>
 著者        Huang T
 タイトル      Current advances in Holt-Oram syndrome.
 雑誌        Curr Opin Pediatr 14:691-5 (2002)
 DOI:<a href=""https://doi.org/10.1097/00008480-200212000-00008"">10.1097/00008480-200212000-00008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096952"">15096952</a>
 著者        Mori AD, Bruneau BG
 タイトル      TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
 雑誌        Curr Opin Cardiol 19:211-5 (2004)
 DOI:<a href=""https://doi.org/10.1097/00001573-200405000-00004"">10.1097/00001573-200405000-00004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12668595"">12668595</a>
 著者        Packham EA, Brook JD
 タイトル      T-box genes in human disorders.
 雑誌        Hum Mol Genet 12 Spec No 1:R37-44 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg077"">10.1093/hmg/ddg077</a>"
H00434,"Camurati-Engelmann病;
 進行性骨幹異形成症",,,Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED.,先天奇形,,TGFB1 [HSA:7040] [KO:K13375],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.3
 MeSH: D003966
 OMIM: 131300","PMID:10973241
 著者        Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K
 タイトル      Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
 雑誌        Nat Genet 26:19-20 (2000)
 DOI:10.1038/79128
 PMID:15103729
 著者        Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K
 タイトル      TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
 雑誌        Am J Med Genet A 127A:104-7 (2004)
 DOI:10.1002/ajmg.a.20671
 PMID:11278244
 著者        Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
 タイトル      Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
 雑誌        J Biol Chem 276:11469-72 (2001)
 DOI:10.1074/jbc.C000859200
 PMID:20301335 (marker)
 著者        Wallace SE, Wilcox WR
 タイトル      Camurati-Engelmann Disease
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00434"">H00434</a>","Camurati-Engelmann病;
 進行性骨幹異形成症",Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED.,,"TGFB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7040"">7040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13375"">K13375</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003966"">D003966</a>
 OMIM: <a href=""https://www.omim.org/entry/131300"">131300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973241"">10973241</a>
 著者        Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K
 タイトル      Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
 雑誌        Nat Genet 26:19-20 (2000)
 DOI:<a href=""https://doi.org/10.1038/79128"">10.1038/79128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15103729"">15103729</a>
 著者        Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K
 タイトル      TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
 雑誌        Am J Med Genet A 127A:104-7 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20671"">10.1002/ajmg.a.20671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11278244"">11278244</a>
 著者        Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
 タイトル      Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
 雑誌        J Biol Chem 276:11469-72 (2001)
 DOI:<a href=""https://doi.org/10.1074/jbc.C000859200"">10.1074/jbc.C000859200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301335"">20301335</a> (marker)
 著者        Wallace SE, Wilcox WR
 タイトル      Camurati-Engelmann Disease
 雑誌        GeneReviews (1993)"
H00435,トキソプラズマ症,,,"Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected meat or by the ingestion of soil, water, or food contaminated with sporulated oocysts derived from the environment or, less frequently, directly from feline feces. The parasite usually causes asymptomatic infection but in immunocompromised individuals, it can result in fatal disease with encephalitis. Transmission can also occur vertically. Congenital infection causes spontaneous abortion or serious defects such as hydrocephalus, chorioretinitis, and intracranial calcification in infants.",感染症,,,Toxoplasma gondii [GN:tgo],,,スピラマイシン [DR:D05908],Definitive host: Felis silvestris catus,"ICD-11: 1F57
 ICD-10: B58
 MeSH: D014123","PMID:30394261
 著者        Hosseini SA, Amouei A, Sharif M, Sarvi S, Galal L, Javidnia J, Pagheh AS, Gholami S, Mizani A, Daryani A
 タイトル      Human toxoplasmosis: a systematic review for genetic diversity of Toxoplasma gondii in clinical samples.
 雑誌        Epidemiol Infect 1-9 (2018)
 DOI:10.1017/S0950268818002947","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00435"">H00435</a>",トキソプラズマ症,"Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected meat or by the ingestion of soil, water, or food contaminated with sporulated oocysts derived from the environment or, less frequently, directly from feline feces. The parasite usually causes asymptomatic infection but in immunocompromised individuals, it can result in fatal disease with encephalitis. Transmission can also occur vertically. Congenital infection causes spontaneous abortion or serious defects such as hydrocephalus, chorioretinitis, and intracranial calcification in infants.",,,"Toxoplasma gondii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tgo"">tgo</a>]",,,"スピラマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05908"">D05908</a>]",Definitive host: Felis silvestris catus,"ICD-11: 1F57
 ICD-10: B58
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014123"">D014123</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30394261"">30394261</a>
 著者        Hosseini SA, Amouei A, Sharif M, Sarvi S, Galal L, Javidnia J, Pagheh AS, Gholami S, Mizani A, Daryani A
 タイトル      Human toxoplasmosis: a systematic review for genetic diversity of Toxoplasma gondii in clinical samples.
 雑誌        Epidemiol Infect 1-9 (2018)
 DOI:<a href=""https://doi.org/10.1017/S0950268818002947"">10.1017/S0950268818002947</a>"
H00436,"大理石骨病
 下位グループ    常染色体優性大理石骨病 (OPTA)
 常染色体劣性大理石骨病 (OPTB)",,,"The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with normal osteoclast counts, most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued by hematopoietic stem cell transplantation.",先天奇形,,"(OPTA1) LRP5 [HSA:4041] [KO:K03068]
 (OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
 (OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
 (OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
 (OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
 (OPTB3) CA2 [HSA:760] [KO:K18245]
 (OPTB5) OSTM1 [HSA:28962] [KO:K23863]
 (OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
 (OPTB8) SNX10 [HSA:29887] [KO:K17924]",,,,,"OBTB1, OPTB4, OBTP5, and OBTP8 are infantile malignant osteopetrosis.
 OPTB3 is osteopetrosis associated with renal tubular acidosis.","ICD-11: LD24.10
 ICD-10: Q78.2
 MeSH: D010022
 OMIM: 607634 166600 618107 259700 259710 259730 611490 259720 611497 612301 615085","PMID:20855225
 著者        Michou L, Brown JP
 タイトル      Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
 雑誌        Joint Bone Spine 78:252-8 (2011)
 DOI:10.1016/j.jbspin.2010.07.010
 PMID:16307387
 著者        Balemans W, Van Wesenbeeck L, Van Hul W
 タイトル      A clinical and molecular overview of the human osteopetroses.
 雑誌        Calcif Tissue Int 77:263-74 (2005)
 DOI:10.1007/s00223-005-0027-6
 PMID:17936098
 著者        Del Fattore A, Cappariello A, Teti A
 タイトル      Genetics, pathogenesis and complications of osteopetrosis.
 雑誌        Bone 42:19-29 (2008)
 DOI:10.1016/j.bone.2007.08.029
 PMID:12579474 (LRP5)
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:10.1086/368277
 PMID:11741829 (CLCN7, OPTA2)
 著者        Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W
 タイトル      Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
 雑誌        Hum Mol Genet 10:2861-7 (2001)
 DOI:10.1093/hmg/10.25.2861
 PMID:17997709 (PLEKHM1, OPTA3)
 著者        Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A
 タイトル      A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
 雑誌        J Bone Miner Res 23:380-91 (2008)
 DOI:10.1359/jbmr.071107
 PMID:10888887 (TCIRG1)
 著者        Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A
 タイトル      Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
 雑誌        Nat Genet 25:343-6 (2000)
 DOI:10.1038/77131
 PMID:17632511 (TNFSF11)
 著者        Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH
 タイトル      Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
 雑誌        Nat Genet 39:960-2 (2007)
 DOI:10.1038/ng2076
 PMID:1928091 (CA2)
 著者        Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE
 タイトル      Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
 雑誌        Am J Hum Genet 49:1082-90 (1991)
 PMID:11207362 (CLCN7, OPTB4)
 著者        Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ
 タイトル      Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
 雑誌        Cell 104:205-15 (2001)
 DOI:10.1016/s0092-8674(01)00206-9
 PMID:12627228 (OSTM1)
 著者        Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J
 タイトル      Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
 雑誌        Nat Med 9:399-406 (2003)
 DOI:10.1038/nm842
 PMID:17404618 (PLEKHM1, OPTB6)
 著者        Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W
 タイトル      Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
 雑誌        J Clin Invest 117:919-30 (2007)
 DOI:10.1172/JCI30328
 PMID:18606301 (TNFRSF11A)
 著者        Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A
 タイトル      Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
 雑誌        Am J Hum Genet 83:64-76 (2008)
 DOI:10.1016/j.ajhg.2008.06.015
 PMID:22499339 (SNX10)
 著者        Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O
 タイトル      An SNX10 mutation causes malignant osteopetrosis of infancy.
 雑誌        J Med Genet 49:221-6 (2012)
 DOI:10.1136/jmedgenet-2011-100520","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00436"">H00436</a>","大理石骨病
 下位グループ    常染色体優性大理石骨病 (OPTA)
 常染色体劣性大理石骨病 (OPTB)","The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with normal osteoclast counts, most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued by hematopoietic stem cell transplantation.",,"(OPTA1) LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 (OPTA2/B4) CLCN7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1186"">1186</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05016"">K05016</a>]
 (OPTA3/B6) PLEKHM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9842"">9842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23282"">K23282</a>]
 (OPTB1) TCIRG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10312"">10312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02154"">K02154</a>]
 (OPTB2) TNFSF11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8600"">8600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05473"">K05473</a>]
 (OPTB3) CA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:760"">760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18245"">K18245</a>]
 (OPTB5) OSTM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28962"">28962</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23863"">K23863</a>]
 (OPTB7) TNFRSF11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8792"">8792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05147"">K05147</a>]
 (OPTB8) SNX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29887"">29887</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17924"">K17924</a>]",,,,,"OBTB1, OPTB4, OBTP5, and OBTP8 are infantile malignant osteopetrosis.
 OPTB3 is osteopetrosis associated with renal tubular acidosis.","ICD-11: LD24.10
 ICD-10: Q78.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010022"">D010022</a>
 OMIM: <a href=""https://www.omim.org/entry/607634"">607634</a> <a href=""https://www.omim.org/entry/166600"">166600</a> <a href=""https://www.omim.org/entry/618107"">618107</a> <a href=""https://www.omim.org/entry/259700"">259700</a> <a href=""https://www.omim.org/entry/259710"">259710</a> <a href=""https://www.omim.org/entry/259730"">259730</a> <a href=""https://www.omim.org/entry/611490"">611490</a> <a href=""https://www.omim.org/entry/259720"">259720</a> <a href=""https://www.omim.org/entry/611497"">611497</a> <a href=""https://www.omim.org/entry/612301"">612301</a> <a href=""https://www.omim.org/entry/615085"">615085</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20855225"">20855225</a>
 著者        Michou L, Brown JP
 タイトル      Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
 雑誌        Joint Bone Spine 78:252-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2010.07.010"">10.1016/j.jbspin.2010.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16307387"">16307387</a>
 著者        Balemans W, Van Wesenbeeck L, Van Hul W
 タイトル      A clinical and molecular overview of the human osteopetroses.
 雑誌        Calcif Tissue Int 77:263-74 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00223-005-0027-6"">10.1007/s00223-005-0027-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17936098"">17936098</a>
 著者        Del Fattore A, Cappariello A, Teti A
 タイトル      Genetics, pathogenesis and complications of osteopetrosis.
 雑誌        Bone 42:19-29 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2007.08.029"">10.1016/j.bone.2007.08.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12579474"">12579474</a> (LRP5)
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:<a href=""https://doi.org/10.1086/368277"">10.1086/368277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11741829"">11741829</a> (CLCN7, <a href=""https://pubmed.ncbi.nlm.nih.gov/OPTA2)"">OPTA2)</a>
 著者        Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W
 タイトル      Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
 雑誌        Hum Mol Genet 10:2861-7 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.25.2861"">10.1093/hmg/10.25.2861</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17997709"">17997709</a> (PLEKHM1, <a href=""https://pubmed.ncbi.nlm.nih.gov/OPTA3)"">OPTA3)</a>
 著者        Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A
 タイトル      A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
 雑誌        J Bone Miner Res 23:380-91 (2008)
 DOI:<a href=""https://doi.org/10.1359/jbmr.071107"">10.1359/jbmr.071107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10888887"">10888887</a> (TCIRG1)
 著者        Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A
 タイトル      Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
 雑誌        Nat Genet 25:343-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/77131"">10.1038/77131</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17632511"">17632511</a> (TNFSF11)
 著者        Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH
 タイトル      Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
 雑誌        Nat Genet 39:960-2 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2076"">10.1038/ng2076</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1928091"">1928091</a> (CA2)
 著者        Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE
 タイトル      Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
 雑誌        Am J Hum Genet 49:1082-90 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11207362"">11207362</a> (CLCN7, <a href=""https://pubmed.ncbi.nlm.nih.gov/OPTB4)"">OPTB4)</a>
 著者        Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ
 タイトル      Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
 雑誌        Cell 104:205-15 (2001)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(01)00206-9"">10.1016/s0092-8674(01)00206-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12627228"">12627228</a> (OSTM1)
 著者        Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J
 タイトル      Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
 雑誌        Nat Med 9:399-406 (2003)
 DOI:<a href=""https://doi.org/10.1038/nm842"">10.1038/nm842</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17404618"">17404618</a> (PLEKHM1, <a href=""https://pubmed.ncbi.nlm.nih.gov/OPTB6)"">OPTB6)</a>
 著者        Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W
 タイトル      Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
 雑誌        J Clin Invest 117:919-30 (2007)
 DOI:<a href=""https://doi.org/10.1172/JCI30328"">10.1172/JCI30328</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18606301"">18606301</a> (TNFRSF11A)
 著者        Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A
 タイトル      Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
 雑誌        Am J Hum Genet 83:64-76 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.06.015"">10.1016/j.ajhg.2008.06.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22499339"">22499339</a> (SNX10)
 著者        Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O
 タイトル      An SNX10 mutation causes malignant osteopetrosis of infancy.
 雑誌        J Med Genet 49:221-6 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100520"">10.1136/jmedgenet-2011-100520</a>"
H00437,"骨パジェット病;
 骨ページェット病",,,"Paget disease of bone are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait.",筋骨格疾患,,"(PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
 (PDB3) SQSTM1 [HSA:8878] [KO:K14381]
 (PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
 (PDB6) ZNF687 [HSA:57592] [KO:K24375]",,,,"エルカトニン [DR:D03287]
 エチドロン酸二ナトリウム [DR:D00314]
 リセドロン酸ナトリウム水和物 [DR:D03234]",,"ICD-11: FB85
 ICD-10: M88
 MeSH: D010001
 OMIM: 167250 602080 239000 616833","PMID:16831914
 著者        Whyte MP
 タイトル      Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.
 雑誌        Ann N Y Acad Sci 1068:143-64 (2006)
 DOI:10.1196/annals.1346.016
 PMID:12929927
 著者        Nakatsuka K, Nishizawa Y, Ralston SH
 タイトル      Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.
 雑誌        J Bone Miner Res 18:1381-5 (2003)
 DOI:10.1359/jbmr.2003.18.8.1381
 PMID:10615125
 著者        Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM
 タイトル      Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
 雑誌        Nat Genet 24:45-8 (2000)
 DOI:10.1038/71667
 PMID:12362049
 著者        Palenzuela L, Vives-Bauza C, Fernandez-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL
 タイトル      Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.
 雑誌        J Med Genet 39:E67 (2002)
 DOI:10.1136/jmg.39.10.E67
 PMID:11771666
 著者        Whyte MP, Hughes AE
 タイトル      Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.
 雑誌        J Bone Miner Res 17:26-9 (2002)
 DOI:10.1359/jbmr.2002.17.1.26
 PMID:12124406
 著者        Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S
 タイトル      Osteoprotegerin deficiency and juvenile Paget's disease.
 雑誌        N Engl J Med 347:175-84 (2002)
 DOI:10.1056/NEJMoa013096
 PMID:18328984
 著者        Ralston SH
 タイトル      Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders.
 雑誌        Best Pract Res Clin Rheumatol 22:101-11 (2008)
 DOI:10.1016/j.berh.2007.11.005
 PMID:20875342 (drug)
 著者        Brandi ML
 タイトル      Current treatment approaches for Paget's Disease of Bone.
 雑誌        Discov Med 10:209-12 (2010)
 PMID:2460988
 著者        Carey PO, Lippert MC
 タイトル      Treatment of painful prostatic bone metastases with oral etidronate disodium.
 雑誌        Urology 32:403-7 (1988)
 DOI:10.1016/0090-4295(88)90410-4
 PMID:26849110
 著者        Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F
 タイトル      ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
 雑誌        Am J Hum Genet 98:275-86 (2016)
 DOI:10.1016/j.ajhg.2015.12.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00437"">H00437</a>","骨パジェット病;
 骨ページェット病","Paget disease of bone are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait.",,"(PDB2) TNFRSF11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8792"">8792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05147"">K05147</a>]
 (PDB3) SQSTM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8878"">8878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14381"">K14381</a>]
 (PDB5) TNFRSF11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4982"">4982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05148"">K05148</a>]
 (PDB6) ZNF687 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57592"">57592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24375"">K24375</a>]",,,,"エルカトニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03287"">D03287</a>]
 エチドロン酸二ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00314"">D00314</a>]
 リセドロン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03234"">D03234</a>]",,"ICD-11: FB85
 ICD-10: M88
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010001"">D010001</a>
 OMIM: <a href=""https://www.omim.org/entry/167250"">167250</a> <a href=""https://www.omim.org/entry/602080"">602080</a> <a href=""https://www.omim.org/entry/239000"">239000</a> <a href=""https://www.omim.org/entry/616833"">616833</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16831914"">16831914</a>
 著者        Whyte MP
 タイトル      Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.
 雑誌        Ann N Y Acad Sci 1068:143-64 (2006)
 DOI:<a href=""https://doi.org/10.1196/annals.1346.016"">10.1196/annals.1346.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12929927"">12929927</a>
 著者        Nakatsuka K, Nishizawa Y, Ralston SH
 タイトル      Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.
 雑誌        J Bone Miner Res 18:1381-5 (2003)
 DOI:<a href=""https://doi.org/10.1359/jbmr.2003.18.8.1381"">10.1359/jbmr.2003.18.8.1381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10615125"">10615125</a>
 著者        Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM
 タイトル      Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
 雑誌        Nat Genet 24:45-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/71667"">10.1038/71667</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12362049"">12362049</a>
 著者        Palenzuela L, Vives-Bauza C, Fernandez-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL
 タイトル      Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.
 雑誌        J Med Genet 39:E67 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.10.E67"">10.1136/jmg.39.10.E67</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11771666"">11771666</a>
 著者        Whyte MP, Hughes AE
 タイトル      Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.
 雑誌        J Bone Miner Res 17:26-9 (2002)
 DOI:<a href=""https://doi.org/10.1359/jbmr.2002.17.1.26"">10.1359/jbmr.2002.17.1.26</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12124406"">12124406</a>
 著者        Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S
 タイトル      Osteoprotegerin deficiency and juvenile Paget's disease.
 雑誌        N Engl J Med 347:175-84 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa013096"">10.1056/NEJMoa013096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328984"">18328984</a>
 著者        Ralston SH
 タイトル      Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders.
 雑誌        Best Pract Res Clin Rheumatol 22:101-11 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.005"">10.1016/j.berh.2007.11.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20875342"">20875342</a> (drug)
 著者        Brandi ML
 タイトル      Current treatment approaches for Paget's Disease of Bone.
 雑誌        Discov Med 10:209-12 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2460988"">2460988</a>
 著者        Carey PO, Lippert MC
 タイトル      Treatment of painful prostatic bone metastases with oral etidronate disodium.
 雑誌        Urology 32:403-7 (1988)
 DOI:<a href=""https://doi.org/10.1016/0090-4295(88)90410-4"">10.1016/0090-4295(88)90410-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26849110"">26849110</a>
 著者        Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F
 タイトル      ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
 雑誌        Am J Hum Genet 98:275-86 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.12.016"">10.1016/j.ajhg.2015.12.016</a>"
H00438,"那須ハコラ病;
 多発性骨嚢胞および白質脳症",,,"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this disease are considered to be directly caused by microglial dysfunction.",先天性代謝異常症,,"(PLOSL1) DAP12 [HSA:7305] [KO:K07992]
 (PLOSL2) TREM2 [HSA:54209] [KO:K14378]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: C536329
 OMIM: 221770 618193","PMID:20500450
 著者        Kaneko M, Sano K, Nakayama J, Amano N
 タイトル      Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.
 雑誌        Neuropathology 30:463-70 (2010)
 DOI:10.1111/j.1440-1789.2010.01127.x
 PMID:20836191
 著者        Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR
 タイトル      Nasu-Hakola disease and primary microglial dysfunction.
 雑誌        Nat Rev Neurol 6:2 p following 523 (2010)
 DOI:10.1038/nrneurol.2010.17-c1
 PMID:20301376
 著者        Paloneva J, Autti T, Hakola P, Haltia MJ
 タイトル      Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00438"">H00438</a>","那須ハコラ病;
 多発性骨嚢胞および白質脳症","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this disease are considered to be directly caused by microglial dysfunction.",,"(PLOSL1) DAP12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7305"">7305</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07992"">K07992</a>]
 (PLOSL2) TREM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54209"">54209</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14378"">K14378</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536329"">C536329</a>
 OMIM: <a href=""https://www.omim.org/entry/221770"">221770</a> <a href=""https://www.omim.org/entry/618193"">618193</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20500450"">20500450</a>
 著者        Kaneko M, Sano K, Nakayama J, Amano N
 タイトル      Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.
 雑誌        Neuropathology 30:463-70 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1789.2010.01127.x"">10.1111/j.1440-1789.2010.01127.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20836191"">20836191</a>
 著者        Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR
 タイトル      Nasu-Hakola disease and primary microglial dysfunction.
 雑誌        Nat Rev Neurol 6:2 p following 523 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrneurol.2010.17-c1"">10.1038/nrneurol.2010.17-c1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301376"">20301376</a>
 著者        Paloneva J, Autti T, Hakola P, Haltia MJ
 タイトル      Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
 雑誌        GeneReviews (1993)"
H00439,"シュバッハマン・ダイアモンド症候群
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]
 骨幹端異形成症 [DS:H00479]",,,"Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS is associated with mutations in SBDS, a protein involved in maturation and export of the ribosomal 60S subunit.",リボソーム病,,"(SDS1) SBDS [HSA:51119] [KO:K14574]
 (SDS2) EFL1 [HSA:79631] [KO:K14536]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 MeSH: C537330
 OMIM: 260400 617941","PMID:19327581
 著者        Burroughs L, Woolfrey A, Shimamura A
 タイトル      Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
 雑誌        Hematol Oncol Clin North Am 23:233-48 (2009)
 DOI:10.1016/j.hoc.2009.01.007
 PMID:20174677
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:10.1039/b919670f
 PMID:28331068
 著者        Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Mendez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sanchez-Puig N, Elpeleg O
 タイトル      Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
 雑誌        J Med Genet 54:558-566 (2017)
 DOI:10.1136/jmedgenet-2016-104366","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00439"">H00439</a>","シュバッハマン・ダイアモンド症候群
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 骨幹端異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00479"">H00479</a>]","Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS is associated with mutations in SBDS, a protein involved in maturation and export of the ribosomal 60S subunit.",,"(SDS1) SBDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51119"">51119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14574"">K14574</a>]
 (SDS2) EFL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79631"">79631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14536"">K14536</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537330"">C537330</a>
 OMIM: <a href=""https://www.omim.org/entry/260400"">260400</a> <a href=""https://www.omim.org/entry/617941"">617941</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19327581"">19327581</a>
 著者        Burroughs L, Woolfrey A, Shimamura A
 タイトル      Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
 雑誌        Hematol Oncol Clin North Am 23:233-48 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.hoc.2009.01.007"">10.1016/j.hoc.2009.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20174677"">20174677</a>
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:<a href=""https://doi.org/10.1039/b919670f"">10.1039/b919670f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28331068"">28331068</a>
 著者        Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Mendez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sanchez-Puig N, Elpeleg O
 タイトル      Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
 雑誌        J Med Genet 54:558-566 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104366"">10.1136/jmedgenet-2016-104366</a>"
H00440,レット症候群,,,"Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.",神経系疾患,,"MECP2 [HSA:4204] [KO:K11588]
 FOXG1B [HSA:2290] [KO:K09385]",,,,,,"ICD-11: LD90.4
 ICD-10: F84.2
 MeSH: D015518
 OMIM: 312750 613454","PMID:12928486
 著者        Kriaucionis S, Bird A
 タイトル      DNA methylation and Rett syndrome.
 雑誌        Hum Mol Genet 12 Spec No 2:R221-7 (2003)
 DOI:10.1093/hmg/ddg286
 PMID:19623215
 著者        Jacob FD, Ramaswamy V, Andersen J, Bolduc FV
 タイトル      Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
 雑誌        Eur J Hum Genet 17:1577-81 (2009)
 DOI:10.1038/ejhg.2009.95","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00440"">H00440</a>",レット症候群,"Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.",,"MECP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4204"">4204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11588"">K11588</a>]
 FOXG1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2290"">2290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09385"">K09385</a>]",,,,,,"ICD-11: LD90.4
 ICD-10: F84.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015518"">D015518</a>
 OMIM: <a href=""https://www.omim.org/entry/312750"">312750</a> <a href=""https://www.omim.org/entry/613454"">613454</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12928486"">12928486</a>
 著者        Kriaucionis S, Bird A
 タイトル      DNA methylation and Rett syndrome.
 雑誌        Hum Mol Genet 12 Spec No 2:R221-7 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg286"">10.1093/hmg/ddg286</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19623215"">19623215</a>
 著者        Jacob FD, Ramaswamy V, Andersen J, Bolduc FV
 タイトル      Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
 雑誌        Eur J Hum Genet 17:1577-81 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.95"">10.1038/ejhg.2009.95</a>"
H00441,進行性骨性異形成症,,,Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin.,筋骨格疾患,,GNAS [HSA:2778] [KO:K04632],,,,,,"ICD-11: FB31.0
 ICD-10: M61.5
 MeSH: C562735
 OMIM: 166350","PMID:8126048
 著者        Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, Tabas J, Gardner RJ, Zasloff MA
 タイトル      Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.
 雑誌        J Bone Joint Surg Am 76:425-36 (1994)
 PMID:11784876
 著者        Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS
 タイトル      Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
 雑誌        N Engl J Med 346:99-106 (2002)
 DOI:10.1056/NEJMoa011262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00441"">H00441</a>",進行性骨性異形成症,Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin.,,"GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]",,,,,,"ICD-11: FB31.0
 ICD-10: M61.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562735"">C562735</a>
 OMIM: <a href=""https://www.omim.org/entry/166350"">166350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8126048"">8126048</a>
 著者        Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, Tabas J, Gardner RJ, Zasloff MA
 タイトル      Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.
 雑誌        J Bone Joint Surg Am 76:425-36 (1994)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11784876"">11784876</a>
 著者        Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS
 タイトル      Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
 雑誌        N Engl J Med 346:99-106 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa011262"">10.1056/NEJMoa011262</a>"
H00442,"屈曲肢異形成
 上位グループ    46,XY 性腺形成不全症 [DS:H00607]",,,Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported.,先天奇形,,SOX9 [HSA:6662] [KO:K18435],,,,,,"ICD-11: LD2A.Y
 ICD-10: Q87.1
 MeSH: D055036
 OMIM: 114290","PMID:21309066
 著者        Lee YH, Saint-Jeannet JP
 タイトル      Sox9 function in craniofacial development and disease.
 雑誌        Genesis 49:200-8 (2011)
 DOI:10.1002/dvg.20717","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00442"">H00442</a>","屈曲肢異形成
 上位グループ    46,XY 性腺形成不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00607"">H00607</a>]",Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported.,,"SOX9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6662"">6662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18435"">K18435</a>]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055036"">D055036</a>
 OMIM: <a href=""https://www.omim.org/entry/114290"">114290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21309066"">21309066</a>
 著者        Lee YH, Saint-Jeannet JP
 タイトル      Sox9 function in craniofacial development and disease.
 雑誌        Genesis 49:200-8 (2011)
 DOI:<a href=""https://doi.org/10.1002/dvg.20717"">10.1002/dvg.20717</a>"
H00443,骨空洞性骨異形成症,,,Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.,先天奇形,,FGFR1 [HSA:2260] [KO:K04362],,,,,,"ICD-11: LD24.2Y
 ICD-10: Q87.1
 MeSH: C536050
 OMIM: 166250","PMID:20339250
 著者        Shankar VN, Ajila V, Kumar G
 タイトル      Osteoglophonic dysplasia: a case report.
 雑誌        J Oral Sci 52:167-71 (2010)
 DOI:10.2334/josnusd.52.167
 PMID:20236123
 著者        Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ
 タイトル      Osteoglophonic dysplasia: A 'common' mutation in a rare disease.
 雑誌        Clin Genet 78:197-8 (2010)
 DOI:10.1111/j.1399-0004.2010.01382.x
 PMID:15625620
 著者        White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ
 タイトル      Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
 雑誌        Am J Hum Genet 76:361-7 (2005)
 DOI:10.1086/427956","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00443"">H00443</a>",骨空洞性骨異形成症,Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.,,"FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]",,,,,,"ICD-11: LD24.2Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536050"">C536050</a>
 OMIM: <a href=""https://www.omim.org/entry/166250"">166250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20339250"">20339250</a>
 著者        Shankar VN, Ajila V, Kumar G
 タイトル      Osteoglophonic dysplasia: a case report.
 雑誌        J Oral Sci 52:167-71 (2010)
 DOI:<a href=""https://doi.org/10.2334/josnusd.52.167"">10.2334/josnusd.52.167</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20236123"">20236123</a>
 著者        Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ
 タイトル      Osteoglophonic dysplasia: A 'common' mutation in a rare disease.
 雑誌        Clin Genet 78:197-8 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01382.x"">10.1111/j.1399-0004.2010.01382.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15625620"">15625620</a>
 著者        White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ
 タイトル      Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
 雑誌        Am J Hum Genet 76:361-7 (2005)
 DOI:<a href=""https://doi.org/10.1086/427956"">10.1086/427956</a>"
H00444,頭部硬化症を伴う線状骨障害,,,Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutations in WTX gene cause OSCS through increased osteoblast activity.,先天奇形,,FAM123B [HSA:139285] [KO:K19407],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: C536053
 OMIM: 300373","PMID:20209645
 著者        Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W
 タイトル      Osteopathia striata with cranial sclerosis owing to WTX gene defect.
 雑誌        J Bone Miner Res 25:82-90 (2010)
 DOI:10.1359/jbmr.090707
 PMID:9842992
 著者        Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M
 タイトル      Severe malformations in males from families with osteopathia striata with cranial sclerosis.
 雑誌        Clin Genet 54:400-5 (1998)
 DOI:10.1111/j.1399-0004.1998.tb03753.x
 PMID:19079258
 著者        Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
 タイトル      Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
 雑誌        Nat Genet 41:95-100 (2009)
 DOI:10.1038/ng.270","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00444"">H00444</a>",頭部硬化症を伴う線状骨障害,Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutations in WTX gene cause OSCS through increased osteoblast activity.,,"FAM123B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:139285"">139285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19407"">K19407</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536053"">C536053</a>
 OMIM: <a href=""https://www.omim.org/entry/300373"">300373</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20209645"">20209645</a>
 著者        Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W
 タイトル      Osteopathia striata with cranial sclerosis owing to WTX gene defect.
 雑誌        J Bone Miner Res 25:82-90 (2010)
 DOI:<a href=""https://doi.org/10.1359/jbmr.090707"">10.1359/jbmr.090707</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9842992"">9842992</a>
 著者        Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M
 タイトル      Severe malformations in males from families with osteopathia striata with cranial sclerosis.
 雑誌        Clin Genet 54:400-5 (1998)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1998.tb03753.x"">10.1111/j.1399-0004.1998.tb03753.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19079258"">19079258</a>
 著者        Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
 タイトル      Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
 雑誌        Nat Genet 41:95-100 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.270"">10.1038/ng.270</a>"
H00445,"軽症の軟骨形成異常に伴う変形性関節症
 上位グループ    II 型コラーゲン異常症 [DS:H00520]",,,The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).,先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C565740
 OMIM: 604864","PMID:11708863
 著者        Mier RJ, Holderbaum D, Ferguson R, Moskowitz R
 タイトル      Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1).
 雑誌        Mol Genet Metab 74:338-41 (2001)
 DOI:10.1006/mgme.2001.3250
 PMID:2300123
 著者        Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ
 タイトル      Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
 雑誌        N Engl J Med 322:526-30 (1990)
 DOI:10.1056/NEJM199002223220807","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00445"">H00445</a>","軽症の軟骨形成異常に伴う変形性関節症
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]",The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).,,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565740"">C565740</a>
 OMIM: <a href=""https://www.omim.org/entry/604864"">604864</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11708863"">11708863</a>
 著者        Mier RJ, Holderbaum D, Ferguson R, Moskowitz R
 タイトル      Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1).
 雑誌        Mol Genet Metab 74:338-41 (2001)
 DOI:<a href=""https://doi.org/10.1006/mgme.2001.3250"">10.1006/mgme.2001.3250</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2300123"">2300123</a>
 著者        Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ
 タイトル      Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
 雑誌        N Engl J Med 322:526-30 (1990)
 DOI:<a href=""https://doi.org/10.1056/NEJM199002223220807"">10.1056/NEJM199002223220807</a>"
H00446,Craniofacial-deafness-hand 症候群,,,"Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation in the PAX3 has been detected in patients with the disease.",先天奇形,,PAX3 [HSA:5077] [KO:K09381],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: C536453
 OMIM: 122880","PMID:14556253
 著者        Sommer A, Bartholomew DW
 タイトル      Craniofacial-deafness-hand syndrome revisited.
 雑誌        Am J Med Genet A 123A:91-4 (2003)
 DOI:10.1002/ajmg.a.20501
 PMID:8664898
 著者        Asher JH Jr, Sommer A, Morell R, Friedman TB
 タイトル      Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
 雑誌        Hum Mutat 7:30-5 (1996)
 DOI:10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T
 PMID:6859126
 著者        Sommer A, Young-Wee T, Frye T
 タイトル      Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
 雑誌        Am J Med Genet 15:71-7 (1983)
 DOI:10.1002/ajmg.1320150109","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00446"">H00446</a>",Craniofacial-deafness-hand 症候群,"Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation in the PAX3 has been detected in patients with the disease.",,"PAX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5077"">5077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09381"">K09381</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536453"">C536453</a>
 OMIM: <a href=""https://www.omim.org/entry/122880"">122880</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14556253"">14556253</a>
 著者        Sommer A, Bartholomew DW
 タイトル      Craniofacial-deafness-hand syndrome revisited.
 雑誌        Am J Med Genet A 123A:91-4 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20501"">10.1002/ajmg.a.20501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8664898"">8664898</a>
 著者        Asher JH Jr, Sommer A, Morell R, Friedman TB
 タイトル      Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
 雑誌        Hum Mutat 7:30-5 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1996)7:"">10.1002/(SICI)1098-1004(1996)7:</a><a href=""https://doi.org/1<30:"">1<30:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU4>3.0.CO;2-T"">AID-HUMU4>3.0.CO;2-T</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6859126"">6859126</a>
 著者        Sommer A, Young-Wee T, Frye T
 タイトル      Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
 雑誌        Am J Med Genet 15:71-7 (1983)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320150109"">10.1002/ajmg.1320150109</a>"
H00447,グリーンバーグ骨異形成症,,,"Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia.",先天奇形,,LBR [HSA:3930] [KO:K19532],,,,,,"ICD-11: LD24.04
 ICD-10: Q78.8
 MeSH: C535858
 OMIM: 215140","PMID:12618959
 著者        Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC
 タイトル      Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
 雑誌        Am J Hum Genet 72:1013-7 (2003)
 DOI:10.1086/373938
 PMID:17467691
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:10.1016/j.yexcr.2007.03.028","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00447"">H00447</a>",グリーンバーグ骨異形成症,"Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia.",,"LBR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3930"">3930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19532"">K19532</a>]",,,,,,"ICD-11: LD24.04
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535858"">C535858</a>
 OMIM: <a href=""https://www.omim.org/entry/215140"">215140</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12618959"">12618959</a>
 著者        Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC
 タイトル      Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
 雑誌        Am J Hum Genet 72:1013-7 (2003)
 DOI:<a href=""https://doi.org/10.1086/373938"">10.1086/373938</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17467691"">17467691</a>
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2007.03.028"">10.1016/j.yexcr.2007.03.028</a>"
H00448,家族性離断性骨軟骨炎,,,"Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.",筋骨格疾患,,ACAN [HSA:176] [KO:K06792],,,,,,"ICD-11: FB82.1
 ICD-10: M93.2
 MeSH: D010008
 OMIM: 165800","PMID:18226555
 著者        Stattin EL, Tegner Y, Domellof M, Dahl N
 タイトル      Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
 雑誌        Osteoarthritis Cartilage 16:890-6 (2008)
 DOI:10.1016/j.joca.2007.11.009
 PMID:20137779
 著者        Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A
 タイトル      A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
 雑誌        Am J Hum Genet 86:126-37 (2010)
 DOI:10.1016/j.ajhg.2009.12.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00448"">H00448</a>",家族性離断性骨軟骨炎,"Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.",,"ACAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:176"">176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06792"">K06792</a>]",,,,,,"ICD-11: FB82.1
 ICD-10: M93.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010008"">D010008</a>
 OMIM: <a href=""https://www.omim.org/entry/165800"">165800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18226555"">18226555</a>
 著者        Stattin EL, Tegner Y, Domellof M, Dahl N
 タイトル      Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
 雑誌        Osteoarthritis Cartilage 16:890-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.joca.2007.11.009"">10.1016/j.joca.2007.11.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137779"">20137779</a>
 著者        Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A
 タイトル      A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
 雑誌        Am J Hum Genet 86:126-37 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.018"">10.1016/j.ajhg.2009.12.018</a>"
H00449,眼歯指異形成症,,,"Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene.",先天奇形,,GJA1 [HSA:2697] [KO:K07372],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C563160
 OMIM: 164200 257850","PMID:15512999
 著者        Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ
 タイトル      Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
 雑誌        Ophthalmic Genet 25:227-36 (2004)
 DOI:10.1080/13816810490513424
 PMID:19338053
 著者        Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
 タイトル      GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
 雑誌        Hum Mutat 30:724-33 (2009)
 DOI:10.1002/humu.20958","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00449"">H00449</a>",眼歯指異形成症,"Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene.",,"GJA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2697"">2697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07372"">K07372</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563160"">C563160</a>
 OMIM: <a href=""https://www.omim.org/entry/164200"">164200</a> <a href=""https://www.omim.org/entry/257850"">257850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15512999"">15512999</a>
 著者        Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ
 タイトル      Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
 雑誌        Ophthalmic Genet 25:227-36 (2004)
 DOI:<a href=""https://doi.org/10.1080/13816810490513424"">10.1080/13816810490513424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19338053"">19338053</a>
 著者        Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
 タイトル      GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
 雑誌        Hum Mutat 30:724-33 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20958"">10.1002/humu.20958</a>"
H00450,"Worth 型 常染色体優性遺伝性骨硬化症;
 骨内膜性骨過形成",,,"Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt.",先天奇形,,LRP5 [HSA:4041] [KO:K03068],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.2
 MeSH: C536748
 OMIM: 144750","PMID:12579474
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:10.1086/368277
 PMID:198844
 著者        Gelman MI
 タイトル      Autosomal dominant osteosclerosis.
 雑誌        Radiology 125:289-96 (1977)
 DOI:10.1148/125.2.289","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00450"">H00450</a>","Worth 型 常染色体優性遺伝性骨硬化症;
 骨内膜性骨過形成","Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt.",,"LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536748"">C536748</a>
 OMIM: <a href=""https://www.omim.org/entry/144750"">144750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12579474"">12579474</a>
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:<a href=""https://doi.org/10.1086/368277"">10.1086/368277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/198844"">198844</a>
 著者        Gelman MI
 タイトル      Autosomal dominant osteosclerosis.
 雑誌        Radiology 125:289-96 (1977)
 DOI:<a href=""https://doi.org/10.1148/125.2.289"">10.1148/125.2.289</a>"
H00451,骨粗鬆症・偽性神経膠腫症候群,,,Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG.,先天奇形,,LRP5 [HSA:4041] [KO:K03068],,,,,,"ICD-11: LD24.KY
 ICD-10: Q87.5
 MeSH: C536063
 OMIM: 259770","PMID:16252235
 著者        Ai M, Heeger S, Bartels CF, Schelling DK
 タイトル      Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
 雑誌        Am J Hum Genet 77:741-53 (2005)
 DOI:10.1086/497706
 PMID:15850991
 著者        Levasseur R, Lacombe D, de Vernejoul MC
 タイトル      LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
 雑誌        Joint Bone Spine 72:207-14 (2005)
 DOI:10.1016/j.jbspin.2004.10.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00451"">H00451</a>",骨粗鬆症・偽性神経膠腫症候群,Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG.,,"LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536063"">C536063</a>
 OMIM: <a href=""https://www.omim.org/entry/259770"">259770</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16252235"">16252235</a>
 著者        Ai M, Heeger S, Bartels CF, Schelling DK
 タイトル      Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
 雑誌        Am J Hum Genet 77:741-53 (2005)
 DOI:<a href=""https://doi.org/10.1086/497706"">10.1086/497706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15850991"">15850991</a>
 著者        Levasseur R, Lacombe D, de Vernejoul MC
 タイトル      LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
 雑誌        Joint Bone Spine 72:207-14 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2004.10.008"">10.1016/j.jbspin.2004.10.008</a>"
H00452,"ブシュケ‐オレンドルフ症候群;
 骨斑紋症",,,"Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein can result in these conditions. LEMD3 is thought to be involved in Smad signaling.",先天奇形,,LEMD3 [HSA:23592] [KO:K19410],,,,,,"ICD-11: LD24.11
 ICD-10: Q78.8
 MeSH: D010023
 OMIM: 166700","PMID:15489854
 著者        Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR
 タイトル      Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
 雑誌        Nat Genet 36:1213-8 (2004)
 DOI:10.1038/ng1453
 PMID:18313966
 著者        Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
 タイトル      Buschke-Ollendorff syndrome.
 雑誌        Joint Bone Spine 75:212-4 (2008)
 DOI:10.1016/j.jbspin.2007.04.027
 PMID:18986450
 著者        Schena D, Germi L, Zamperetti MR, Colato C, Girolomoni G
 タイトル      Buschke-Ollendorff syndrome.
 雑誌        Int J Dermatol 47:1159-61 (2008)
 DOI:10.1111/j.1365-4632.2008.03727.x
 PMID:19634844
 著者        Jain VK, Arya RK, Bharadwaj M, Kumar S
 タイトル      Melorheostosis: clinicopathological features, diagnosis, and management.
 雑誌        Orthopedics 32:512 (2009)
 DOI:10.3928/01477447-20090527-20","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00452"">H00452</a>","ブシュケ‐オレンドルフ症候群;
 骨斑紋症","Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein can result in these conditions. LEMD3 is thought to be involved in Smad signaling.",,"LEMD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23592"">23592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19410"">K19410</a>]",,,,,,"ICD-11: LD24.11
 ICD-10: Q78.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010023"">D010023</a>
 OMIM: <a href=""https://www.omim.org/entry/166700"">166700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15489854"">15489854</a>
 著者        Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR
 タイトル      Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
 雑誌        Nat Genet 36:1213-8 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1453"">10.1038/ng1453</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18313966"">18313966</a>
 著者        Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
 タイトル      Buschke-Ollendorff syndrome.
 雑誌        Joint Bone Spine 75:212-4 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2007.04.027"">10.1016/j.jbspin.2007.04.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18986450"">18986450</a>
 著者        Schena D, Germi L, Zamperetti MR, Colato C, Girolomoni G
 タイトル      Buschke-Ollendorff syndrome.
 雑誌        Int J Dermatol 47:1159-61 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2008.03727.x"">10.1111/j.1365-4632.2008.03727.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19634844"">19634844</a>
 著者        Jain VK, Arya RK, Bharadwaj M, Kumar S
 タイトル      Melorheostosis: clinicopathological features, diagnosis, and management.
 雑誌        Orthopedics 32:512 (2009)
 DOI:<a href=""https://doi.org/10.3928/01477447-20090527-20"">10.3928/01477447-20090527-20</a>"
H00453,"鰓弓耳腎症候群;
 BOR 症候群
 下位グループ    BO 症候群",,,"Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.",先天奇形,,"(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
 (BOR2) SIX5 [HSA:147912] [KO:K19474]
 (BO3) SIX1 [HSA:6495] [KO:K15614]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87
 MeSH: D019280
 OMIM: 113650 602588 610896 608389","PMID:8558563
 著者        Dallapiccola B, Mingarelli R
 タイトル      Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.
 雑誌        J Med Genet 32:816-8 (1995)
 DOI:10.1136/jmg.32.10.816
 PMID:11409867
 著者        Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M
 タイトル      Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
 雑誌        Hum Genet 108:398-403 (2001)
 DOI:10.1007/s004390100495
 PMID:17637804 (EYA1, SIX1)
 著者        Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L
 タイトル      Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
 雑誌        Eur J Hum Genet 15:1121-31 (2007)
 DOI:10.1038/sj.ejhg.5201900
 PMID:17357085 (SIX5)
 著者        Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F
 タイトル      Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
 雑誌        Am J Hum Genet 80:800-4 (2007)
 DOI:10.1086/513322
 PMID:15141091 (SIX1)
 著者        Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F
 タイトル      SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
 雑誌        Proc Natl Acad Sci U S A 101:8090-5 (2004)
 DOI:10.1073/pnas.0308475101","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00453"">H00453</a>","鰓弓耳腎症候群;
 BOR 症候群
 下位グループ    BO 症候群","Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.",,"(BOR1/BO1) EYA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2138"">2138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15616"">K15616</a>]
 (BOR2) SIX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147912"">147912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19474"">K19474</a>]
 (BO3) SIX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6495"">6495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15614"">K15614</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019280"">D019280</a>
 OMIM: <a href=""https://www.omim.org/entry/113650"">113650</a> <a href=""https://www.omim.org/entry/602588"">602588</a> <a href=""https://www.omim.org/entry/610896"">610896</a> <a href=""https://www.omim.org/entry/608389"">608389</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8558563"">8558563</a>
 著者        Dallapiccola B, Mingarelli R
 タイトル      Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.
 雑誌        J Med Genet 32:816-8 (1995)
 DOI:<a href=""https://doi.org/10.1136/jmg.32.10.816"">10.1136/jmg.32.10.816</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11409867"">11409867</a>
 著者        Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M
 タイトル      Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
 雑誌        Hum Genet 108:398-403 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004390100495"">10.1007/s004390100495</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17637804"">17637804</a> (EYA1, <a href=""https://pubmed.ncbi.nlm.nih.gov/SIX1)"">SIX1)</a>
 著者        Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L
 タイトル      Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
 雑誌        Eur J Hum Genet 15:1121-31 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201900"">10.1038/sj.ejhg.5201900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17357085"">17357085</a> (SIX5)
 著者        Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F
 タイトル      Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
 雑誌        Am J Hum Genet 80:800-4 (2007)
 DOI:<a href=""https://doi.org/10.1086/513322"">10.1086/513322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15141091"">15141091</a> (SIX1)
 著者        Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F
 タイトル      SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
 雑誌        Proc Natl Acad Sci U S A 101:8090-5 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0308475101"">10.1073/pnas.0308475101</a>"
H00454,Oral-facial-digital 症候群,,,"Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly.",先天奇形,,"(OFD1) OFD1 [HSA:8481] [KO:K16480]
 (OFD4) TCTN3 [HSA:26123] [KO:K19382]
 (OFD5) DDX59 [HSA:83479] [KO:K19466]
 (OFD6) CPLANE1 [HSA:65250] [KO:K22859]
 (OFD14) C2CD3 [HSA:26005] [KO:K16751]
 (OFD15) MNR [HSA:9851] [KO:K21765]
 (OFD16) TMEM107 [HSA:84314] [KO:K22764]
 (OFD17) INTU [HSA:27152] [KO:K22862]
 (OFD18) IFT57 [HSA:55081] [KO:K04638]",,,,,,"ICD-11: LD25.00
 ICD-10: Q87.0
 MeSH: D009958
 OMIM: 311200 258860 174300 277170 615948 617127 617563 617926 617927","PMID:19876934
 著者        Macca M, Franco B
 タイトル      The molecular basis of oral-facial-digital syndrome, type 1.
 雑誌        Am J Med Genet C Semin Med Genet 151C:318-25 (2009)
 DOI:10.1002/ajmg.c.30224
 PMID:20920500
 著者        Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B
 タイトル      Ofd1 is required in limb bud patterning and endochondral bone development.
 雑誌        Dev Biol 349:179-91 (2011)
 DOI:10.1016/j.ydbio.2010.09.020
 PMID:22883145
 著者        Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T
 タイトル      TCTN3 mutations cause Mohr-Majewski syndrome.
 雑誌        Am J Hum Genet 91:372-8 (2012)
 DOI:10.1016/j.ajhg.2012.06.017
 PMID:23972372
 著者        Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS
 タイトル      Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
 雑誌        Am J Hum Genet 93:555-60 (2013)
 DOI:10.1016/j.ajhg.2013.07.012
 PMID:23523602
 著者        Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C
 タイトル      Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
 雑誌        Eur J Med Genet 56:301-8 (2013)
 DOI:10.1016/j.ejmg.2013.03.004
 PMID:24997988
 著者        Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV
 タイトル      The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
 雑誌        Nat Genet 46:905-11 (2014)
 DOI:10.1038/ng.3031
 PMID:26643951
 著者        Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C
 タイトル      OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
 雑誌        Hum Mol Genet 25:497-513 (2016)
 DOI:10.1093/hmg/ddv488
 PMID:26595381
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:10.1038/ncb3273
 PMID:27060890
 著者        Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C
 タイトル      Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
 雑誌        Clin Genet 90:509-517 (2016)
 DOI:10.1111/cge.12785
 PMID:27158779
 著者        Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB
 タイトル      The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
 雑誌        Nat Genet 48:648-56 (2016)
 DOI:10.1038/ng.3558","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00454"">H00454</a>",Oral-facial-digital 症候群,"Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly.",,"(OFD1) OFD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8481"">8481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16480"">K16480</a>]
 (OFD4) TCTN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26123"">26123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19382"">K19382</a>]
 (OFD5) DDX59 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83479"">83479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19466"">K19466</a>]
 (OFD6) CPLANE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65250"">65250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22859"">K22859</a>]
 (OFD14) C2CD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26005"">26005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16751"">K16751</a>]
 (OFD15) MNR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9851"">9851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21765"">K21765</a>]
 (OFD16) TMEM107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84314"">84314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22764"">K22764</a>]
 (OFD17) INTU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27152"">27152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22862"">K22862</a>]
 (OFD18) IFT57 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55081"">55081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04638"">K04638</a>]",,,,,,"ICD-11: LD25.00
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009958"">D009958</a>
 OMIM: <a href=""https://www.omim.org/entry/311200"">311200</a> <a href=""https://www.omim.org/entry/258860"">258860</a> <a href=""https://www.omim.org/entry/174300"">174300</a> <a href=""https://www.omim.org/entry/277170"">277170</a> <a href=""https://www.omim.org/entry/615948"">615948</a> <a href=""https://www.omim.org/entry/617127"">617127</a> <a href=""https://www.omim.org/entry/617563"">617563</a> <a href=""https://www.omim.org/entry/617926"">617926</a> <a href=""https://www.omim.org/entry/617927"">617927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19876934"">19876934</a>
 著者        Macca M, Franco B
 タイトル      The molecular basis of oral-facial-digital syndrome, type 1.
 雑誌        Am J Med Genet C Semin Med Genet 151C:318-25 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30224"">10.1002/ajmg.c.30224</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920500"">20920500</a>
 著者        Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B
 タイトル      Ofd1 is required in limb bud patterning and endochondral bone development.
 雑誌        Dev Biol 349:179-91 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ydbio.2010.09.020"">10.1016/j.ydbio.2010.09.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22883145"">22883145</a>
 著者        Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T
 タイトル      TCTN3 mutations cause Mohr-Majewski syndrome.
 雑誌        Am J Hum Genet 91:372-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.06.017"">10.1016/j.ajhg.2012.06.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23972372"">23972372</a>
 著者        Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS
 タイトル      Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
 雑誌        Am J Hum Genet 93:555-60 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.012"">10.1016/j.ajhg.2013.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23523602"">23523602</a>
 著者        Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C
 タイトル      Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
 雑誌        Eur J Med Genet 56:301-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2013.03.004"">10.1016/j.ejmg.2013.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24997988"">24997988</a>
 著者        Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV
 タイトル      The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
 雑誌        Nat Genet 46:905-11 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3031"">10.1038/ng.3031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26643951"">26643951</a>
 著者        Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C
 タイトル      OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
 雑誌        Hum Mol Genet 25:497-513 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv488"">10.1093/hmg/ddv488</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26595381"">26595381</a>
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncb3273"">10.1038/ncb3273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27060890"">27060890</a>
 著者        Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C
 タイトル      Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
 雑誌        Clin Genet 90:509-517 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12785"">10.1111/cge.12785</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27158779"">27158779</a>
 著者        Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB
 タイトル      The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
 雑誌        Nat Genet 48:648-56 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3558"">10.1038/ng.3558</a>"
H00455,"脊髄性筋萎縮症
 下位グループ    ウェルドニッヒ・ホフマン病 (SMA1)
 脊髄性筋萎縮症 II型 (SMA2)
 クーゲルベルグ・ヴェランダー病 (SMA3)
 脊髄性筋萎縮症 IV型 (SMA4)
 X-linked SMA (SMAX)
 近位成人常染色体優性遺伝性脊髄性筋萎縮症 (SMAPAD)
 下肢優位型常染色体優性遺伝性脊髄性筋萎縮症 (SMALED)",,,"Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined.",神経変性疾患,,"(SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
 (SMA3) SMN2 [HSA:6607] [KO:K13129]
 (SMAX1) AR [HSA:367] [KO:K08557]
 (SMAX2) UBA1 [HSA:7317] [KO:K03178]
 (SMAX3) ATP7A [HSA:538] [KO:K17686]
 (SMAPAD) VAPB [HSA:9217] [KO:K10707]
 (SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
 (SMALED2) BICD2 [HSA:23299] [KO:K18739]",,,,"ヌシネルセンナトリウム [DR:D10791]
 リスジプラム [DR:D11406]
 アデノシン三リン酸二ナトリウム水和物 [DR:D02300]
 オナセムノゲンアベパルボベク [DR:D11559]","About SMAX1, please refer to H00062, for detail.
 See also H00856 Distal hereditary motor neuropathies (dHMN).","ICD-11: 8B61
 ICD-10: G12.0 G12.1
 MeSH: D009134
 OMIM: 253300 253550 253400 271150 313200 301830 300489 182980 158600 615290","PMID:20302191
 著者        Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L
 タイトル      Spinal muscular atrophy disease: a literature review for therapeutic strategies.
 雑誌        J Med Life 3:3-9 (2010)
 PMID:12872254 (SMN1)
 著者        Cusco I, Lopez E, Soler-Botija C, Jesus Barcelo M, Baiget M, Tizzano EF
 タイトル      A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
 雑誌        Hum Mutat 22:136-43 (2003)
 DOI:10.1002/humu.10245
 PMID:19716110 (SMN2)
 著者        Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT
 タイトル      A positive modifier of spinal muscular atrophy in the SMN2 gene.
 雑誌        Am J Hum Genet 85:408-13 (2009)
 DOI:10.1016/j.ajhg.2009.08.002
 PMID:2062380 (AR)
 著者        La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH
 タイトル      Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nature 352:77-9 (1991)
 DOI:10.1038/352077a0
 PMID:18179898 (UBA1)
 著者        Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L
 タイトル      Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
 雑誌        Am J Hum Genet 82:188-93 (2008)
 DOI:10.1016/j.ajhg.2007.09.009
 PMID:20170900 (ATP7A)
 著者        Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY
 タイトル      Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
 雑誌        Am J Hum Genet 86:343-52 (2010)
 DOI:10.1016/j.ajhg.2010.01.027
 PMID:15372378 (VAPB)
 著者        Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M
 タイトル      A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
 雑誌        Am J Hum Genet 75:822-31 (2004)
 DOI:10.1086/425287
 PMID:22459677 (DYNC1H1)
 著者        Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH
 タイトル      Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
 雑誌        Neurology 78:1714-20 (2012)
 DOI:10.1212/WNL.0b013e3182556c05
 PMID:23664116 (BICD2)
 著者        Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B
 タイトル      Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
 雑誌        Am J Hum Genet 92:946-54 (2013)
 DOI:10.1016/j.ajhg.2013.04.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00455"">H00455</a>","脊髄性筋萎縮症
 下位グループ    ウェルドニッヒ・ホフマン病 (SMA1)
 脊髄性筋萎縮症 II型 (SMA2)
 クーゲルベルグ・ヴェランダー病 (SMA3)
 脊髄性筋萎縮症 IV型 (SMA4)
 X-linked SMA (SMAX)
 近位成人常染色体優性遺伝性脊髄性筋萎縮症 (SMAPAD)
 下肢優位型常染色体優性遺伝性脊髄性筋萎縮症 (SMALED)","Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined.",,"(SMA1,2,3,4) SMN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6606"">6606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13129"">K13129</a>]
 (SMA3) SMN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6607"">6607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13129"">K13129</a>]
 (SMAX1) AR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:367"">367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08557"">K08557</a>]
 (SMAX2) UBA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7317"">7317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03178"">K03178</a>]
 (SMAX3) ATP7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:538"">538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17686"">K17686</a>]
 (SMAPAD) VAPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9217"">9217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10707"">K10707</a>]
 (SMALED1) DYNC1H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1778"">1778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10413"">K10413</a>]
 (SMALED2) BICD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23299"">23299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18739"">K18739</a>]",,,,"ヌシネルセンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10791"">D10791</a>]
 リスジプラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11406"">D11406</a>]
 アデノシン三リン酸二ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02300"">D02300</a>]
 オナセムノゲンアベパルボベク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11559"">D11559</a>]","About SMAX1, please refer to <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00062,"">H00062,</a> for detail.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00856"">H00856</a> Distal hereditary motor neuropathies (dHMN).","ICD-11: 8B61
 ICD-10: G12.0 G12.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009134"">D009134</a>
 OMIM: <a href=""https://www.omim.org/entry/253300"">253300</a> <a href=""https://www.omim.org/entry/253550"">253550</a> <a href=""https://www.omim.org/entry/253400"">253400</a> <a href=""https://www.omim.org/entry/271150"">271150</a> <a href=""https://www.omim.org/entry/313200"">313200</a> <a href=""https://www.omim.org/entry/301830"">301830</a> <a href=""https://www.omim.org/entry/300489"">300489</a> <a href=""https://www.omim.org/entry/182980"">182980</a> <a href=""https://www.omim.org/entry/158600"">158600</a> <a href=""https://www.omim.org/entry/615290"">615290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20302191"">20302191</a>
 著者        Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L
 タイトル      Spinal muscular atrophy disease: a literature review for therapeutic strategies.
 雑誌        J Med Life 3:3-9 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12872254"">12872254</a> (SMN1)
 著者        Cusco I, Lopez E, Soler-Botija C, Jesus Barcelo M, Baiget M, Tizzano EF
 タイトル      A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
 雑誌        Hum Mutat 22:136-43 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10245"">10.1002/humu.10245</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19716110"">19716110</a> (SMN2)
 著者        Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT
 タイトル      A positive modifier of spinal muscular atrophy in the SMN2 gene.
 雑誌        Am J Hum Genet 85:408-13 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.08.002"">10.1016/j.ajhg.2009.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2062380"">2062380</a> (AR)
 著者        La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH
 タイトル      Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
 雑誌        Nature 352:77-9 (1991)
 DOI:<a href=""https://doi.org/10.1038/352077a0"">10.1038/352077a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179898"">18179898</a> (UBA1)
 著者        Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L
 タイトル      Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
 雑誌        Am J Hum Genet 82:188-93 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.009"">10.1016/j.ajhg.2007.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170900"">20170900</a> (ATP7A)
 著者        Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY
 タイトル      Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
 雑誌        Am J Hum Genet 86:343-52 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.027"">10.1016/j.ajhg.2010.01.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15372378"">15372378</a> (VAPB)
 著者        Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M
 タイトル      A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
 雑誌        Am J Hum Genet 75:822-31 (2004)
 DOI:<a href=""https://doi.org/10.1086/425287"">10.1086/425287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22459677"">22459677</a> (DYNC1H1)
 著者        Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH
 タイトル      Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
 雑誌        Neurology 78:1714-20 (2012)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3182556c05"">10.1212/WNL.0b013e3182556c05</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23664116"">23664116</a> (BICD2)
 著者        Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B
 タイトル      Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
 雑誌        Am J Hum Genet 92:946-54 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.011"">10.1016/j.ajhg.2013.04.011</a>"
H00456,"前頭・耳口蓋指症候群
 下位グループ    耳口蓋指症候群 I型
 耳口蓋指症候群 II型
 Melnick-Needles 症候群
 前頭骨幹端異形成症",,,Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized by a typical facial appearance and generalized osteodysplasia.,先天奇形,,FLNA [HSA:2316] [KO:K04437],,,,,,"ICD-11: LD25.1
 ICD-10: Q77.8 Q78.5
 MeSH: C538064 C536065 C538089
 OMIM: 311300 304120 309350 305620","PMID:10706363
 著者        Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E
 タイトル      Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
 雑誌        Am J Med Genet 90:407-22 (2000)
 DOI:10.1002/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D
 PMID:21031081
 著者        Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N
 タイトル      Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
 雑誌        Mol Syndromol 1:121-126 (2010)
 DOI:10.1159/000320184","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00456"">H00456</a>","前頭・耳口蓋指症候群
 下位グループ    耳口蓋指症候群 I型
 耳口蓋指症候群 II型
 Melnick-Needles 症候群
 前頭骨幹端異形成症",Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized by a typical facial appearance and generalized osteodysplasia.,,"FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD25.1
 ICD-10: Q77.8 Q78.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538064"">C538064</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536065"">C536065</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538089"">C538089</a>
 OMIM: <a href=""https://www.omim.org/entry/311300"">311300</a> <a href=""https://www.omim.org/entry/304120"">304120</a> <a href=""https://www.omim.org/entry/309350"">309350</a> <a href=""https://www.omim.org/entry/305620"">305620</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10706363"">10706363</a>
 著者        Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E
 タイトル      Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
 雑誌        Am J Med Genet 90:407-22 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(20000228)90:"">10.1002/(SICI)1096-8628(20000228)90:</a><a href=""https://doi.org/5<407:"">5<407:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG11>3.0.CO;2-D"">AID-AJMG11>3.0.CO;2-D</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21031081"">21031081</a>
 著者        Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N
 タイトル      Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
 雑誌        Mol Syndromol 1:121-126 (2010)
 DOI:<a href=""https://doi.org/10.1159/000320184"">10.1159/000320184</a>"
H00457,原発性肥厚性皮膚骨膜症,,,"Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported.",筋骨格疾患,,"HPGD [HSA:3248] [KO:K00069]
 SLCO2A1 [HSA:6578] [KO:K14345]",,,,,,"ICD-11: FB86.10
 ICD-10: M89.4
 MeSH: D010004
 OMIM: 259100 614441","PMID:19568269
 著者        Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, Hubner C, Verbeek NE, Mundlos S, Horn D
 タイトル      HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
 雑誌        Eur J Hum Genet 17:1570-6 (2009)
 DOI:10.1038/ejhg.2009.104
 PMID:18500342
 著者        Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bielenska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT
 タイトル      Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
 雑誌        Nat Genet 40:789-93 (2008)
 DOI:10.1038/ng.153
 PMID:20889364 (gene, marker)
 著者        Harifi G, Brancati F, Dallapicola B, El Hassani S
 タイトル      Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
 雑誌        Joint Bone Spine 78:218-9 (2011)
 DOI:10.1016/j.jbspin.2010.08.012
 PMID:23509104
 著者        Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
 タイトル      Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.
 雑誌        J Clin Endocrinol Metab 98:E923-33 (2013)
 DOI:10.1210/jc.2012-3568","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00457"">H00457</a>",原発性肥厚性皮膚骨膜症,"Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported.",,"HPGD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3248"">3248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00069"">K00069</a>]
 SLCO2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6578"">6578</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14345"">K14345</a>]",,,,,,"ICD-11: FB86.10
 ICD-10: M89.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010004"">D010004</a>
 OMIM: <a href=""https://www.omim.org/entry/259100"">259100</a> <a href=""https://www.omim.org/entry/614441"">614441</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19568269"">19568269</a>
 著者        Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, Hubner C, Verbeek NE, Mundlos S, Horn D
 タイトル      HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
 雑誌        Eur J Hum Genet 17:1570-6 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.104"">10.1038/ejhg.2009.104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18500342"">18500342</a>
 著者        Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bielenska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT
 タイトル      Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
 雑誌        Nat Genet 40:789-93 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.153"">10.1038/ng.153</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20889364"">20889364</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Harifi G, Brancati F, Dallapicola B, El Hassani S
 タイトル      Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
 雑誌        Joint Bone Spine 78:218-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2010.08.012"">10.1016/j.jbspin.2010.08.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23509104"">23509104</a>
 著者        Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
 タイトル      Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.
 雑誌        J Clin Endocrinol Metab 98:E923-33 (2013)
 DOI:<a href=""https://doi.org/10.1210/jc.2012-3568"">10.1210/jc.2012-3568</a>"
H00458,"症候性頭蓋縫合早期癒合症
 下位グループ    ファイファー症候群 [DS:H01756]
 アペール症候群 [DS:H01755]
 クルーゾン症候群 [DS:H01754]
 Jackson-Weiss 症候群 [DS:H01988]
 Beare-Stevenson 症候群 [DS:H01989]
 Muenke 症候群 [DS:H01990]
 ゼーツレ‐コッツェン症候群 [DS:H01991]
 アントレー・ビクスラー症候群 [DS:H01753]
 カーペンター症候群 [DS:H01888]
 頭蓋前頭鼻骨症候群 [DS:H01992]
 ヌーナン症候群 [DS:H01738]
 バラー・ゲロルト症候群 [DS:H01993]",,,Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs.,先天奇形,,"(Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
 (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
 (Muenke) FGFR3 [HSA:2261] [KO:K05094]
 (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
 (Antley-Bixler) POR [HSA:5447] [KO:K00327]
 (Carpenter) RAB23 [HSA:51715] [KO:K06234]
 (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
 (Noonan) KRAS [HSA:3845] [KO:K07827]
 (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]",,,,,,"ICD-11: LD24.G
 ICD-10: Q87
 MeSH: D000168 D003398 D054882
 OMIM: 101600 101200 123500 123150 123790 602849 612247 101400 207410 201750 201000 304110 609942 218600 123150 207410","PMID:21248745
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:10.1038/ejhg.2010.235
 PMID:15828709
 著者        Aleck K
 タイトル      Craniosynostosis syndromes in the genomic era.
 雑誌        Semin Pediatr Neurol 11:256-61 (2004)
 DOI:10.1016/j.spen.2004.10.005
 PMID:23438589
 著者        Fitzpatrick DR
 タイトル      Filling in the gaps in cranial suture biology.
 雑誌        Nat Genet 45:231-2 (2013)
 DOI:10.1038/ng.2557
 PMID:26340333
 著者        Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
 タイトル      Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
 雑誌        Am J Hum Genet 97:378-88 (2015)
 DOI:10.1016/j.ajhg.2015.07.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>","症候性頭蓋縫合早期癒合症
 下位グループ    ファイファー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01756"">H01756</a>]
 アペール症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01755"">H01755</a>]
 クルーゾン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01754"">H01754</a>]
 Jackson-Weiss 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01988"">H01988</a>]
 Beare-Stevenson 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01989"">H01989</a>]
 Muenke 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01990"">H01990</a>]
 ゼーツレ‐コッツェン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01991"">H01991</a>]
 アントレー・ビクスラー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01753"">H01753</a>]
 カーペンター症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01888"">H01888</a>]
 頭蓋前頭鼻骨症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01992"">H01992</a>]
 ヌーナン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01738"">H01738</a>]
 バラー・ゲロルト症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01993"">H01993</a>]",Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs.,,"(Pfeiffer) FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]
 (Muenke) FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]
 (Saethre-Chotzen) TWIST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7291"">7291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]
 (Antley-Bixler) POR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5447"">5447</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00327"">K00327</a>]
 (Carpenter) RAB23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51715"">51715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06234"">K06234</a>]
 (Craniofrontonasal) EFNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1947"">1947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05463"">K05463</a>]
 (Noonan) KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 (Baller-Gerold) RECQL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9401"">9401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10730"">K10730</a>]",,,,,,"ICD-11: LD24.G
 ICD-10: Q87
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000168"">D000168</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003398"">D003398</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054882"">D054882</a>
 OMIM: <a href=""https://www.omim.org/entry/101600"">101600</a> <a href=""https://www.omim.org/entry/101200"">101200</a> <a href=""https://www.omim.org/entry/123500"">123500</a> <a href=""https://www.omim.org/entry/123150"">123150</a> <a href=""https://www.omim.org/entry/123790"">123790</a> <a href=""https://www.omim.org/entry/602849"">602849</a> <a href=""https://www.omim.org/entry/612247"">612247</a> <a href=""https://www.omim.org/entry/101400"">101400</a> <a href=""https://www.omim.org/entry/207410"">207410</a> <a href=""https://www.omim.org/entry/201750"">201750</a> <a href=""https://www.omim.org/entry/201000"">201000</a> <a href=""https://www.omim.org/entry/304110"">304110</a> <a href=""https://www.omim.org/entry/609942"">609942</a> <a href=""https://www.omim.org/entry/218600"">218600</a> <a href=""https://www.omim.org/entry/123150"">123150</a> <a href=""https://www.omim.org/entry/207410"">207410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248745"">21248745</a>
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.235"">10.1038/ejhg.2010.235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15828709"">15828709</a>
 著者        Aleck K
 タイトル      Craniosynostosis syndromes in the genomic era.
 雑誌        Semin Pediatr Neurol 11:256-61 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2004.10.005"">10.1016/j.spen.2004.10.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23438589"">23438589</a>
 著者        Fitzpatrick DR
 タイトル      Filling in the gaps in cranial suture biology.
 雑誌        Nat Genet 45:231-2 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2557"">10.1038/ng.2557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26340333"">26340333</a>
 著者        Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
 タイトル      Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
 雑誌        Am J Hum Genet 97:378-88 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.007"">10.1016/j.ajhg.2015.07.007</a>"
H00459,"合多指 (趾) 症
 上位グループ    合指症 [DS:H01095]",,,Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1.,先天奇形,,"(SPD1) HOXD13 [HSA:3239] [KO:K09298]
 (SPD2) FBLN1 [HSA:2192] [KO:K17307]",,,,,,"ICD-11: LB79.Y
 ICD-10: Q70.0 Q70.2
 MeSH: C538153 C564278
 OMIM: 186000 608180","PMID:12357469
 著者        Goodman FR
 タイトル      Limb malformations and the human HOX genes.
 雑誌        Am J Med Genet 112:256-65 (2002)
 DOI:10.1002/ajmg.10776
 PMID:21782042
 著者        Brison N, Tylzanowski P, Debeer P
 タイトル      Limb skeletal malformations - what the HOX is going on?
 雑誌        Eur J Med Genet 55:1-7 (2012)
 DOI:10.1016/j.ejmg.2011.06.003
 PMID:11836357
 著者        Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
 タイトル      The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
 雑誌        J Med Genet 39:98-104 (2002)
 DOI:10.1136/jmg.39.2.98
 PMID:18177473
 著者        Malik S, Grzeschik KH
 タイトル      Synpolydactyly: clinical and molecular advances.
 雑誌        Clin Genet 73:113-20 (2008)
 DOI:10.1111/j.1399-0004.2007.00935.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00459"">H00459</a>","合多指 (趾) 症
 上位グループ    合指症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01095"">H01095</a>]",Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1.,,"(SPD1) HOXD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3239"">3239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (SPD2) FBLN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2192"">2192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17307"">K17307</a>]",,,,,,"ICD-11: LB79.Y
 ICD-10: Q70.0 Q70.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538153"">C538153</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564278"">C564278</a>
 OMIM: <a href=""https://www.omim.org/entry/186000"">186000</a> <a href=""https://www.omim.org/entry/608180"">608180</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12357469"">12357469</a>
 著者        Goodman FR
 タイトル      Limb malformations and the human HOX genes.
 雑誌        Am J Med Genet 112:256-65 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10776"">10.1002/ajmg.10776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21782042"">21782042</a>
 著者        Brison N, Tylzanowski P, Debeer P
 タイトル      Limb skeletal malformations - what the HOX is going on?
 雑誌        Eur J Med Genet 55:1-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2011.06.003"">10.1016/j.ejmg.2011.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11836357"">11836357</a>
 著者        Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
 タイトル      The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
 雑誌        J Med Genet 39:98-104 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.2.98"">10.1136/jmg.39.2.98</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18177473"">18177473</a>
 著者        Malik S, Grzeschik KH
 タイトル      Synpolydactyly: clinical and molecular advances.
 雑誌        Clin Genet 73:113-20 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00935.x"">10.1111/j.1399-0004.2007.00935.x</a>"
H00460,Hand-foot-genital 症候群,,,Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract.,先天奇形,,HOXA13 [HSA:3209] [KO:K09298],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q51.5
 MeSH: C535627
 OMIM: 140000","PMID:21782042
 著者        Brison N, Tylzanowski P, Debeer P
 タイトル      Limb skeletal malformations - what the HOX is going on?
 雑誌        Eur J Med Genet 55:1-7 (2012)
 DOI:10.1016/j.ejmg.2011.06.003
 PMID:10839976
 著者        Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ
 タイトル      Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
 雑誌        Am J Hum Genet 67:197-202 (2000)
 DOI:10.1086/302961","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00460"">H00460</a>",Hand-foot-genital 症候群,Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract.,,"HOXA13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3209"">3209</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q51.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535627"">C535627</a>
 OMIM: <a href=""https://www.omim.org/entry/140000"">140000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21782042"">21782042</a>
 著者        Brison N, Tylzanowski P, Debeer P
 タイトル      Limb skeletal malformations - what the HOX is going on?
 雑誌        Eur J Med Genet 55:1-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2011.06.003"">10.1016/j.ejmg.2011.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10839976"">10839976</a>
 著者        Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ
 タイトル      Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
 雑誌        Am J Hum Genet 67:197-202 (2000)
 DOI:<a href=""https://doi.org/10.1086/302961"">10.1086/302961</a>"
H00461,"Ischiocoxopodopatellar 症候群;
 股関節足膝蓋骨症候群;
 小膝蓋骨症候群;
 Scott-Taor 症候群",,,"Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.",先天奇形,,TBX4 [HSA:9496] [KO:K10178],,,,,,"ICD-11: LD24.JY
 ICD-10: Q74.1
 MeSH: C535540
 OMIM: 147891","PMID:15106123
 著者        Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H
 タイトル      Mutations in the human TBX4 gene cause small patella syndrome.
 雑誌        Am J Hum Genet 74:1239-48 (2004)
 DOI:10.1086/421331
 PMID:9133358
 著者        Azouz EM, Kozlowski K
 タイトル      Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
 雑誌        Pediatr Radiol 27:432-5 (1997)
 DOI:10.1007/s002470050163","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00461"">H00461</a>","Ischiocoxopodopatellar 症候群;
 股関節足膝蓋骨症候群;
 小膝蓋骨症候群;
 Scott-Taor 症候群","Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.",,"TBX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9496"">9496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10178"">K10178</a>]",,,,,,"ICD-11: LD24.JY
 ICD-10: Q74.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535540"">C535540</a>
 OMIM: <a href=""https://www.omim.org/entry/147891"">147891</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15106123"">15106123</a>
 著者        Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H
 タイトル      Mutations in the human TBX4 gene cause small patella syndrome.
 雑誌        Am J Hum Genet 74:1239-48 (2004)
 DOI:<a href=""https://doi.org/10.1086/421331"">10.1086/421331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9133358"">9133358</a>
 著者        Azouz EM, Kozlowski K
 タイトル      Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
 雑誌        Pediatr Radiol 27:432-5 (1997)
 DOI:<a href=""https://doi.org/10.1007/s002470050163"">10.1007/s002470050163</a>"
H00462,Stuve-Wiedemann 症候群,,,Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease.,先天奇形,,LIFR [HSA:3977] [KO:K05058],,,,,,"ICD-11: LD24.C
 ICD-10: Q78.8
 MeSH: C537502
 OMIM: 601559","PMID:8723080
 著者        Wiedemann HR, Stuve A.
 タイトル      Stuve-Wiedemann syndrome: update and historical footnote.
 雑誌        Am J Med Genet 63:12-6 (1996)
 DOI:10.1002/(SICI)1096-8628(19960503)63:1<12::AID-AJMG5>3.0.CO;2-U
 PMID:18546280
 著者        Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
 タイトル      Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
 雑誌        Am J Med Genet A 146A:1748-53 (2008)
 DOI:10.1002/ajmg.a.32325
 PMID:14740318
 著者        Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V
 タイトル      Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
 雑誌        Am J Hum Genet 74:298-305 (2004)
 DOI:10.1086/381715","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00462"">H00462</a>",Stuve-Wiedemann 症候群,Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease.,,"LIFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3977"">3977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05058"">K05058</a>]",,,,,,"ICD-11: LD24.C
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537502"">C537502</a>
 OMIM: <a href=""https://www.omim.org/entry/601559"">601559</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8723080"">8723080</a>
 著者        Wiedemann HR, Stuve A.
 タイトル      Stuve-Wiedemann syndrome: update and historical footnote.
 雑誌        Am J Med Genet 63:12-6 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19960503)63:"">10.1002/(SICI)1096-8628(19960503)63:</a><a href=""https://doi.org/1<12:"">1<12:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-U"">AID-AJMG5>3.0.CO;2-U</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18546280"">18546280</a>
 著者        Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
 タイトル      Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
 雑誌        Am J Med Genet A 146A:1748-53 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32325"">10.1002/ajmg.a.32325</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14740318"">14740318</a>
 著者        Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V
 タイトル      Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
 雑誌        Am J Hum Genet 74:298-305 (2004)
 DOI:<a href=""https://doi.org/10.1086/381715"">10.1086/381715</a>"
H00463,Currarino 症候群,,,"Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome.",先天奇形,,HLXB9 [HSA:3110] [KO:K08025],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q42
 MeSH: C536221
 OMIM: 176450","PMID:6789651
 著者        Currarino G, Coln D, Votteler T
 タイトル      Triad of anorectal, sacral, and presacral anomalies.
 雑誌        AJR Am J Roentgenol 137:395-8 (1981)
 DOI:10.2214/ajr.137.2.395
 PMID:8740138
 著者        Kochling J, Pistor G, Marzhauser Brands S, Nasir R, Lanksch WR
 タイトル      The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature.
 雑誌        Eur J Pediatr Surg 6:114-9 (1996)
 DOI:10.1055/s-2008-1066487
 PMID:18449898
 著者        Cretolle C, Pelet A, Sanlaville D, Zerah M, Amiel J, Jaubert F, Revillon Y, Baala L, Munnich A, Nihoul-Fekete C, Lyonnet S
 タイトル      Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
 雑誌        Hum Mutat 29:903-10 (2008)
 DOI:10.1002/humu.20718
 PMID:10749657
 著者        Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T
 タイトル      Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
 雑誌        Am J Hum Genet 66:1504-15 (2000)
 DOI:10.1086/302899","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00463"">H00463</a>",Currarino 症候群,"Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome.",,"HLXB9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3110"">3110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08025"">K08025</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q42
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536221"">C536221</a>
 OMIM: <a href=""https://www.omim.org/entry/176450"">176450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6789651"">6789651</a>
 著者        Currarino G, Coln D, Votteler T
 タイトル      Triad of anorectal, sacral, and presacral anomalies.
 雑誌        AJR Am J Roentgenol 137:395-8 (1981)
 DOI:<a href=""https://doi.org/10.2214/ajr.137.2.395"">10.2214/ajr.137.2.395</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8740138"">8740138</a>
 著者        Kochling J, Pistor G, Marzhauser Brands S, Nasir R, Lanksch WR
 タイトル      The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature.
 雑誌        Eur J Pediatr Surg 6:114-9 (1996)
 DOI:<a href=""https://doi.org/10.1055/s-2008-1066487"">10.1055/s-2008-1066487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18449898"">18449898</a>
 著者        Cretolle C, Pelet A, Sanlaville D, Zerah M, Amiel J, Jaubert F, Revillon Y, Baala L, Munnich A, Nihoul-Fekete C, Lyonnet S
 タイトル      Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
 雑誌        Hum Mutat 29:903-10 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.20718"">10.1002/humu.20718</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10749657"">10749657</a>
 著者        Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T
 タイトル      Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
 雑誌        Am J Hum Genet 66:1504-15 (2000)
 DOI:<a href=""https://doi.org/10.1086/302899"">10.1086/302899</a>"
H00464,爪膝蓋骨症候群,,,Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia.,先天奇形,,LMX1B [HSA:4010] [KO:K09371],,,,,,"ICD-11: LD24.J0
 ICD-10: Q87.2
 MeSH: D009261
 OMIM: 161200","PMID:12215822
 著者        Bongers EM, Gubler MC, Knoers NV
 タイトル      Nail-patella syndrome. Overview on clinical and molecular findings.
 雑誌        Pediatr Nephrol 17:703-12 (2002)
 DOI:10.1007/s00467-002-0911-5
 PMID:11175791
 著者        Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B
 タイトル      Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
 雑誌        Nat Genet 27:205-8 (2001)
 DOI:10.1038/84853","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00464"">H00464</a>",爪膝蓋骨症候群,Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia.,,"LMX1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4010"">4010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09371"">K09371</a>]",,,,,,"ICD-11: LD24.J0
 ICD-10: Q87.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009261"">D009261</a>
 OMIM: <a href=""https://www.omim.org/entry/161200"">161200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12215822"">12215822</a>
 著者        Bongers EM, Gubler MC, Knoers NV
 タイトル      Nail-patella syndrome. Overview on clinical and molecular findings.
 雑誌        Pediatr Nephrol 17:703-12 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00467-002-0911-5"">10.1007/s00467-002-0911-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11175791"">11175791</a>
 著者        Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B
 タイトル      Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
 雑誌        Nat Genet 27:205-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/84853"">10.1038/84853</a>"
H00465,脆弱Ｘ症候群,,,"Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region.",染色体異常,,FMR1 [HSA:2332] [KO:K15516],,,,,"See also H01731 Fragile X tremor/ataxia syndrome (FXTAS).
 (FXR) Full mutation expansions (>200 CGG repeats)
 (FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)","ICD-11: LD55
 ICD-10: Q99.2
 MeSH: D005600
 OMIM: 300624","PMID:18805096
 著者        Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C
 タイトル      The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
 雑誌        Cell 134:1042-54 (2008)
 DOI:10.1016/j.cell.2008.07.031
 PMID:19325170
 著者        Pfeiffer BE, Huber KM
 タイトル      The state of synapses in fragile X syndrome.
 雑誌        Neuroscientist 15:549-67 (2009)
 DOI:10.1177/1073858409333075
 PMID:20682752
 著者        Bhogal B, Jongens TA
 タイトル      Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
 雑誌        Dis Model Mech 3:693-700 (2010)
 DOI:10.1242/dmm.002006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465"">H00465</a>",脆弱Ｘ症候群,"Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region.",,"FMR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2332"">2332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15516"">K15516</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01731"">H01731</a> Fragile X tremor/ataxia syndrome (FXTAS).
 (FXR) Full mutation expansions (>200 CGG repeats)
 (FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)","ICD-11: LD55
 ICD-10: Q99.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005600"">D005600</a>
 OMIM: <a href=""https://www.omim.org/entry/300624"">300624</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18805096"">18805096</a>
 著者        Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C
 タイトル      The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
 雑誌        Cell 134:1042-54 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2008.07.031"">10.1016/j.cell.2008.07.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19325170"">19325170</a>
 著者        Pfeiffer BE, Huber KM
 タイトル      The state of synapses in fragile X syndrome.
 雑誌        Neuroscientist 15:549-67 (2009)
 DOI:<a href=""https://doi.org/10.1177/1073858409333075"">10.1177/1073858409333075</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20682752"">20682752</a>
 著者        Bhogal B, Jongens TA
 タイトル      Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
 雑誌        Dis Model Mech 3:693-700 (2010)
 DOI:<a href=""https://doi.org/10.1242/dmm.002006"">10.1242/dmm.002006</a>"
H00466,"Grebe 型異形成症;
 Hunter-Thompson 型遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:H02543]",,,"Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers. Homozygous mutations in GDF5 are the cause of the disease.",先天奇形,,GDF5 [HSA:8200] [KO:K04664],,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 MeSH: C537915 C535658
 OMIM: 200700 201250","PMID:9288098
 著者        Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP
 タイトル      Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
 雑誌        Nat Genet 17:58-64 (1997)
 DOI:10.1038/ng0997-58
 PMID:12124730
 著者        Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC
 タイトル      Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
 雑誌        Am J Med Genet 111:31-7 (2002)
 DOI:10.1002/ajmg.10501
 PMID:12567410
 著者        Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
 タイトル      Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
 雑誌        Am J Med Genet A 117A:136-42 (2003)
 DOI:10.1002/ajmg.a.10924","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00466"">H00466</a>","Grebe 型異形成症;
 Hunter-Thompson 型遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02543"">H02543</a>]","Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers. Homozygous mutations in GDF5 are the cause of the disease.",,"GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]",,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537915"">C537915</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535658"">C535658</a>
 OMIM: <a href=""https://www.omim.org/entry/200700"">200700</a> <a href=""https://www.omim.org/entry/201250"">201250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9288098"">9288098</a>
 著者        Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP
 タイトル      Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
 雑誌        Nat Genet 17:58-64 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0997-58"">10.1038/ng0997-58</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12124730"">12124730</a>
 著者        Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC
 タイトル      Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
 雑誌        Am J Med Genet 111:31-7 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10501"">10.1002/ajmg.10501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12567410"">12567410</a>
 著者        Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
 タイトル      Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
 雑誌        Am J Med Genet A 117A:136-42 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10924"">10.1002/ajmg.a.10924</a>"
H00467,"Du Pan症候群
 上位グループ    遠位中間肢異形成症 [DS:H02543]",,,"Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation.",先天奇形,,GDF5 [HSA:8200] [KO:K04664],,,,,,"ICD-11: LD26
 ICD-10: Q73.8
 MeSH: C537931
 OMIM: 228900","PMID:12567410
 著者        Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
 タイトル      Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
 雑誌        Am J Med Genet A 117A:136-42 (2003)
 DOI:10.1002/ajmg.a.10924
 PMID:12121354
 著者        Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC
 タイトル      Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
 雑誌        Clin Genet 61:454-8 (2002)
 DOI:10.1034/j.1399-0004.2002.610610.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00467"">H00467</a>","Du Pan症候群
 上位グループ    遠位中間肢異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02543"">H02543</a>]","Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation.",,"GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]",,,,,,"ICD-11: LD26
 ICD-10: Q73.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537931"">C537931</a>
 OMIM: <a href=""https://www.omim.org/entry/228900"">228900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12567410"">12567410</a>
 著者        Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
 タイトル      Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
 雑誌        Am J Med Genet A 117A:136-42 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10924"">10.1002/ajmg.a.10924</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12121354"">12121354</a>
 著者        Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC
 タイトル      Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
 雑誌        Clin Genet 61:454-8 (2002)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2002.610610.x"">10.1034/j.1399-0004.2002.610610.x</a>"
H00468,"Demirhan型 遠位中間肢異形成症;
 性器発育不全を伴う遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:H02543]",,,Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B.,先天奇形,,BMPR1B [HSA:658] [KO:K13578],,,,,,"ICD-11: LD24.9
 ICD-10: Q78.8
 MeSH: C537913
 OMIM: 609441","PMID:15805157
 著者        Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K
 タイトル      A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
 雑誌        J Med Genet 42:314-7 (2005)
 DOI:10.1136/jmg.2004.023564
 PMID:19790289
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:10.1111/j.1399-0004.2009.01238.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00468"">H00468</a>","Demirhan型 遠位中間肢異形成症;
 性器発育不全を伴う遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02543"">H02543</a>]",Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B.,,"BMPR1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:658"">658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13578"">K13578</a>]",,,,,,"ICD-11: LD24.9
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537913"">C537913</a>
 OMIM: <a href=""https://www.omim.org/entry/609441"">609441</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15805157"">15805157</a>
 著者        Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K
 タイトル      A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
 雑誌        J Med Genet 42:314-7 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.023564"">10.1136/jmg.2004.023564</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19790289"">19790289</a>
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01238.x"">10.1111/j.1399-0004.2009.01238.x</a>"
H00469,"ミトコンドリア DNA 枯渇症候群
 下位グループ    アルパーズ症候群 [DS:H01389]
 MNGIE 症候群 [DS:H01390]
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation.",先天性代謝異常症; ミトコンドリア病,,"(MTDPS1) TYMP [HSA:1890] [KO:K00758]
 (MTDPS2) TK2 [HSA:7084] [KO:K00857]
 (MTDPS3) DGUOK [HSA:1716] [KO:K00904]
 (MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
 (MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
 (MTDPS6) MPV17 [HSA:4358] [KO:K13348]
 (MTDPS7) PEO1 [HSA:56652] [KO:K17680]
 (MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
 (MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
 (MTDPS10) AGK [HSA:55750] [KO:K09881]
 (MTDPS11) MGME1 [HSA:92667] [KO:K19465]
 (MTDPS12) SLC25A4 [HSA:291] [KO:K05863]
 (MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
 (MTDPS14) OPA1 [HSA:4976] [KO:K17079]
 (MTDPS15) TFAM [HSA:7019] [KO:K11830]
 (MTDPS16) POLG2 [HSA:11232] [KO:K02333]
 (MTDPS17) MRM2 [HSA:29960] [KO:K02427]
 (MTDPS18) SLC25A21 [HSA:89874] [KO:K15110]
 (MTDPS19) SLC25A10 [HSA:1468] [KO:K13577]",,,,,"MNGIE type: MTDPS1, MTDPS4B, MTDPS8B
 Myopathic type: MTDPS2, MTDPS11
 Hepatocerebral type: MTDPS3, MTDPS6, MTDPS7, MTDPS15
 Encephalomyopathic: MTDPS5, MTDPS8A, MTDPS9, MTDP12, MTDP13
 Alpers type: MTDPS4A","ICD-11: 5C53.20
 ICD-10: E88.8
 MeSH: D017237
 OMIM: 603041 609560 251880 203700 613662 612073 256810 271245 612075 245400 221350 615084 615418 615471 616896 617156 618528 618567 618811 618972","PMID:20444604
 著者        Suomalainen A, Isohanni P
 タイトル      Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
 雑誌        Neuromuscul Disord 20:429-37 (2010)
 DOI:10.1016/j.nmd.2010.03.017
 PMID:21855607
 著者        Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T
 タイトル      Pyruvate therapy for mitochondrial DNA depletion syndrome.
 雑誌        Biochim Biophys Acta 1820:632-6 (2012)
 DOI:10.1016/j.bbagen.2011.08.006
 PMID:22284826
 著者        Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H
 タイトル      Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
 雑誌        Am J Hum Genet 90:314-20 (2012)
 DOI:10.1016/j.ajhg.2011.12.005
 PMID:23313956
 著者        Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H
 タイトル      Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
 雑誌        Nat Genet 45:214-9 (2013)
 DOI:10.1038/ng.2501
 PMID:16155110
 著者        Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M
 タイトル      Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
 雑誌        Hum Mol Genet 14:3079-88 (2005)
 DOI:10.1093/hmg/ddi341
 PMID:23993193
 著者        Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW
 タイトル      Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
 雑誌        Am J Hum Genet 93:471-81 (2013)
 DOI:10.1016/j.ajhg.2013.07.017
 PMID:27448789
 著者        Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE
 タイトル      Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
 雑誌        Mol Genet Metab 119:91-9 (2016)
 DOI:10.1016/j.ymgme.2016.07.001
 PMID:30157269
 著者        Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC
 タイトル      Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
 雑誌        PLoS One 13:e0203198 (2018)
 DOI:10.1371/journal.pone.0203198
 PMID:28973171
 著者        Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M
 タイトル      Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
 雑誌        Hum Mol Genet 26:4257-4266 (2017)
 DOI:10.1093/hmg/ddx314
 PMID:29517768
 著者        Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R
 タイトル      Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
 雑誌        Genet Med 20:1224-1235 (2018)
 DOI:10.1038/gim.2017.251
 PMID:29211846
 著者        Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A
 タイトル      SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
 雑誌        Hum Mol Genet 27:499-504 (2018)
 DOI:10.1093/hmg/ddx419","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00469"">H00469</a>","ミトコンドリア DNA 枯渇症候群
 下位グループ    アルパーズ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01389"">H01389</a>]
 MNGIE 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01390"">H01390</a>]
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation.",,"(MTDPS1) TYMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1890"">1890</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00758"">K00758</a>]
 (MTDPS2) TK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7084"">7084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00857"">K00857</a>]
 (MTDPS3) DGUOK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1716"">1716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00904"">K00904</a>]
 (MTDPS4A/4B) POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]
 (MTDPS5) SUCLA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8803"">8803</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01900"">K01900</a>]
 (MTDPS6) MPV17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4358"">4358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13348"">K13348</a>]
 (MTDPS7) PEO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56652"">56652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17680"">K17680</a>]
 (MTDPS8A/8B) RRM2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50484"">50484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10808"">K10808</a>]
 (MTDPS9) SUCLG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8802"">8802</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01899"">K01899</a>]
 (MTDPS10) AGK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55750"">55750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09881"">K09881</a>]
 (MTDPS11) MGME1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92667"">92667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19465"">K19465</a>]
 (MTDPS12) SLC25A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:291"">291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05863"">K05863</a>]
 (MTDPS13) FBXL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26235"">26235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10270"">K10270</a>]
 (MTDPS14) OPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4976"">4976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17079"">K17079</a>]
 (MTDPS15) TFAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7019"">7019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11830"">K11830</a>]
 (MTDPS16) POLG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11232"">11232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02333"">K02333</a>]
 (MTDPS17) MRM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29960"">29960</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02427"">K02427</a>]
 (MTDPS18) SLC25A21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89874"">89874</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15110"">K15110</a>]
 (MTDPS19) SLC25A10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1468"">1468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13577"">K13577</a>]",,,,,"MNGIE type: MTDPS1, MTDPS4B, MTDPS8B
 Myopathic type: MTDPS2, MTDPS11
 Hepatocerebral type: MTDPS3, MTDPS6, MTDPS7, MTDPS15
 Encephalomyopathic: MTDPS5, MTDPS8A, MTDPS9, MTDP12, MTDP13
 Alpers type: MTDPS4A","ICD-11: 5C53.20
 ICD-10: E88.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017237"">D017237</a>
 OMIM: <a href=""https://www.omim.org/entry/603041"">603041</a> <a href=""https://www.omim.org/entry/609560"">609560</a> <a href=""https://www.omim.org/entry/251880"">251880</a> <a href=""https://www.omim.org/entry/203700"">203700</a> <a href=""https://www.omim.org/entry/613662"">613662</a> <a href=""https://www.omim.org/entry/612073"">612073</a> <a href=""https://www.omim.org/entry/256810"">256810</a> <a href=""https://www.omim.org/entry/271245"">271245</a> <a href=""https://www.omim.org/entry/612075"">612075</a> <a href=""https://www.omim.org/entry/245400"">245400</a> <a href=""https://www.omim.org/entry/221350"">221350</a> <a href=""https://www.omim.org/entry/615084"">615084</a> <a href=""https://www.omim.org/entry/615418"">615418</a> <a href=""https://www.omim.org/entry/615471"">615471</a> <a href=""https://www.omim.org/entry/616896"">616896</a> <a href=""https://www.omim.org/entry/617156"">617156</a> <a href=""https://www.omim.org/entry/618528"">618528</a> <a href=""https://www.omim.org/entry/618567"">618567</a> <a href=""https://www.omim.org/entry/618811"">618811</a> <a href=""https://www.omim.org/entry/618972"">618972</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20444604"">20444604</a>
 著者        Suomalainen A, Isohanni P
 タイトル      Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
 雑誌        Neuromuscul Disord 20:429-37 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2010.03.017"">10.1016/j.nmd.2010.03.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21855607"">21855607</a>
 著者        Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T
 タイトル      Pyruvate therapy for mitochondrial DNA depletion syndrome.
 雑誌        Biochim Biophys Acta 1820:632-6 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbagen.2011.08.006"">10.1016/j.bbagen.2011.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22284826"">22284826</a>
 著者        Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H
 タイトル      Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
 雑誌        Am J Hum Genet 90:314-20 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.005"">10.1016/j.ajhg.2011.12.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23313956"">23313956</a>
 著者        Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H
 タイトル      Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
 雑誌        Nat Genet 45:214-9 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2501"">10.1038/ng.2501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16155110"">16155110</a>
 著者        Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M
 タイトル      Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
 雑誌        Hum Mol Genet 14:3079-88 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi341"">10.1093/hmg/ddi341</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23993193"">23993193</a>
 著者        Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW
 タイトル      Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
 雑誌        Am J Hum Genet 93:471-81 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.017"">10.1016/j.ajhg.2013.07.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27448789"">27448789</a>
 著者        Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE
 タイトル      Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
 雑誌        Mol Genet Metab 119:91-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2016.07.001"">10.1016/j.ymgme.2016.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30157269"">30157269</a>
 著者        Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC
 タイトル      Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
 雑誌        PLoS One 13:e0203198 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0203198"">10.1371/journal.pone.0203198</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28973171"">28973171</a>
 著者        Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M
 タイトル      Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
 雑誌        Hum Mol Genet 26:4257-4266 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx314"">10.1093/hmg/ddx314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29517768"">29517768</a>
 著者        Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R
 タイトル      Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
 雑誌        Genet Med 20:1224-1235 (2018)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.251"">10.1038/gim.2017.251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29211846"">29211846</a>
 著者        Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A
 タイトル      SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
 雑誌        Hum Mol Genet 27:499-504 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx419"">10.1093/hmg/ddx419</a>"
H00470,"Maroteaux 型遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:H02543]",,,"Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.",先天奇形,,NPR2 [HSA:4882] [KO:K12324],,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 MeSH: C535661
 OMIM: 602875","PMID:18945719
 著者        Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR
 タイトル      Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
 雑誌        Hum Mol Genet 18:267-77 (2009)
 DOI:10.1093/hmg/ddn354
 PMID:15146390
 著者        Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML
 タイトル      Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
 雑誌        Am J Hum Genet 75:27-34 (2004)
 DOI:10.1086/422013
 PMID:17652215
 著者        Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y
 タイトル      Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
 雑誌        J Clin Endocrinol Metab 92:4009-14 (2007)
 DOI:10.1210/jc.2007-1101","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00470"">H00470</a>","Maroteaux 型遠位中間肢異形成症
 上位グループ    遠位中間肢異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02543"">H02543</a>]","Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.",,"NPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4882"">4882</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12324"">K12324</a>]",,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535661"">C535661</a>
 OMIM: <a href=""https://www.omim.org/entry/602875"">602875</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18945719"">18945719</a>
 著者        Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR
 タイトル      Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
 雑誌        Hum Mol Genet 18:267-77 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn354"">10.1093/hmg/ddn354</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15146390"">15146390</a>
 著者        Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML
 タイトル      Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
 雑誌        Am J Hum Genet 75:27-34 (2004)
 DOI:<a href=""https://doi.org/10.1086/422013"">10.1086/422013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17652215"">17652215</a>
 著者        Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y
 タイトル      Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
 雑誌        J Clin Endocrinol Metab 92:4009-14 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-1101"">10.1210/jc.2007-1101</a>"
H00471,裂手/裂足症,,,Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients.,先天奇形,,"(SHFM4) TP63 [HSA:8626] [KO:K10149]
 (SHFM6) WNT10B [HSA:7480] [KO:K01357]
 (SHFM1D) DLX5 [HSA:1749] [KO:K18489]
 (SFMMP) MAP3K20 [HSA:51776] [KO:K04424]",,,,,"SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss.
 SFMMP refers to split-foot malformation with mesoaxial polydactyly.","ICD-11: LB99.8 LB9A.6
 ICD-10: Q71.6 Q72.7
 MeSH: C567893 C564056 C565437 C565344 C564674 C567616
 OMIM: 183600 605289 225300 220600 616890","PMID:16283879
 著者        Elliott AM, Evans JA, Chudley AE
 タイトル      Split hand foot malformation (SHFM).
 雑誌        Clin Genet 68:501-5 (2005)
 DOI:10.1111/j.1399-0004.2005.00530.x
 PMID:16763964
 著者        Basel D, Kilpatrick MW, Tsipouras P
 タイトル      The expanding panorama of split hand foot malformation.
 雑誌        Am J Med Genet A 140:1359-65 (2006)
 DOI:10.1002/ajmg.a.31304
 PMID:12668597
 著者        Duijf PH, van Bokhoven H, Brunner HG
 タイトル      Pathogenesis of split-hand/split-foot malformation.
 雑誌        Hum Mol Genet 12 Spec No 1:R51-60 (2003)
 DOI:10.1093/hmg/ddg090
 PMID:21554266
 著者        Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W
 タイトル      A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
 雑誌        Clin Genet 82:48-55 (2012)
 DOI:10.1111/j.1399-0004.2011.01698.x
 PMID:22121204
 著者        Shamseldin HE, Faden MA, Alashram W, Alkuraya FS
 タイトル      Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
 雑誌        J Med Genet 49:16-20 (2012)
 DOI:10.1136/jmedgenet-2011-100556
 PMID:26755636
 著者        Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G
 タイトル      Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
 雑誌        Genome Res 26:183-91 (2016)
 DOI:10.1101/gr.199430.115","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00471"">H00471</a>",裂手/裂足症,Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients.,,"(SHFM4) TP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]
 (SHFM6) WNT10B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7480"">7480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01357"">K01357</a>]
 (SHFM1D) DLX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1749"">1749</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18489"">K18489</a>]
 (SFMMP) MAP3K20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51776"">51776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04424"">K04424</a>]",,,,,"SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss.
 SFMMP refers to split-foot malformation with mesoaxial polydactyly.","ICD-11: LB99.8 LB9A.6
 ICD-10: Q71.6 Q72.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567893"">C567893</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564056"">C564056</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565437"">C565437</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565344"">C565344</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564674"">C564674</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567616"">C567616</a>
 OMIM: <a href=""https://www.omim.org/entry/183600"">183600</a> <a href=""https://www.omim.org/entry/605289"">605289</a> <a href=""https://www.omim.org/entry/225300"">225300</a> <a href=""https://www.omim.org/entry/220600"">220600</a> <a href=""https://www.omim.org/entry/616890"">616890</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16283879"">16283879</a>
 著者        Elliott AM, Evans JA, Chudley AE
 タイトル      Split hand foot malformation (SHFM).
 雑誌        Clin Genet 68:501-5 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2005.00530.x"">10.1111/j.1399-0004.2005.00530.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16763964"">16763964</a>
 著者        Basel D, Kilpatrick MW, Tsipouras P
 タイトル      The expanding panorama of split hand foot malformation.
 雑誌        Am J Med Genet A 140:1359-65 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31304"">10.1002/ajmg.a.31304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12668597"">12668597</a>
 著者        Duijf PH, van Bokhoven H, Brunner HG
 タイトル      Pathogenesis of split-hand/split-foot malformation.
 雑誌        Hum Mol Genet 12 Spec No 1:R51-60 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg090"">10.1093/hmg/ddg090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21554266"">21554266</a>
 著者        Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W
 タイトル      A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
 雑誌        Clin Genet 82:48-55 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01698.x"">10.1111/j.1399-0004.2011.01698.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22121204"">22121204</a>
 著者        Shamseldin HE, Faden MA, Alashram W, Alkuraya FS
 タイトル      Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
 雑誌        J Med Genet 49:16-20 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100556"">10.1136/jmedgenet-2011-100556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26755636"">26755636</a>
 著者        Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G
 タイトル      Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
 雑誌        Genome Res 26:183-91 (2016)
 DOI:<a href=""https://doi.org/10.1101/gr.199430.115"">10.1101/gr.199430.115</a>"
H00472,"Torg 症候群;
 Torg-Winchester 症候群;
 多中心性骨溶解・結節・関節症",,,"Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.",筋骨格疾患,,MMP2 [HSA:4313] [KO:K01398],,,,,,"ICD-11: FB86.2
 ICD-10: Q85.9
 MeSH: C536051
 OMIM: 259600","PMID:10861676
 著者        Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA
 タイトル      Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
 雑誌        Am J Med Genet 93:11-8 (2000)
 DOI:10.1002/1096-8628(20000703)93:1<11::AID-AJMG3>3.0.CO;2-3
 PMID:17059372
 著者        Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A
 タイトル      Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
 雑誌        J Bone Miner Res 22:329-33 (2007)
 DOI:10.1359/jbmr.061013
 PMID:20720557
 著者        Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH
 タイトル      A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
 雑誌        J Hum Genet 55:764-6 (2010)
 DOI:10.1038/jhg.2010.102","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00472"">H00472</a>","Torg 症候群;
 Torg-Winchester 症候群;
 多中心性骨溶解・結節・関節症","Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.",,"MMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4313"">4313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01398"">K01398</a>]",,,,,,"ICD-11: FB86.2
 ICD-10: Q85.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536051"">C536051</a>
 OMIM: <a href=""https://www.omim.org/entry/259600"">259600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10861676"">10861676</a>
 著者        Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA
 タイトル      Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
 雑誌        Am J Med Genet 93:11-8 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(20000703)93:"">10.1002/1096-8628(20000703)93:</a><a href=""https://doi.org/1<11:"">1<11:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG3>3.0.CO;2-3"">AID-AJMG3>3.0.CO;2-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17059372"">17059372</a>
 著者        Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A
 タイトル      Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
 雑誌        J Bone Miner Res 22:329-33 (2007)
 DOI:<a href=""https://doi.org/10.1359/jbmr.061013"">10.1359/jbmr.061013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20720557"">20720557</a>
 著者        Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH
 タイトル      A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
 雑誌        J Hum Genet 55:764-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.102"">10.1038/jhg.2010.102</a>"
H00473,"ミトコンドリア複合体 I 欠損症
 下位グループ    ミトコンドリア複合体 I 欠損症、核型 (MC1DN)
 ミトコンドリア複合体 I 欠損症、ミトコンドリア型
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.",先天性代謝異常症,,"(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
 (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
 (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
 (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
 (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
 (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
 (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
 (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
 (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
 (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
 (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
 (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
 (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
 (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
 (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
 (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
 (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
 (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
 (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
 (MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
 (MC1DN21) NUBPL [HSA:80224] [KO:K03593]
 (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
 (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
 (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
 (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
 (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
 (MC1DN27) MTFMT [HSA:123263] [KO:K00604]
 (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
 (MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
 (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
 (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
 (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
 (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
 (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
 (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
 (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
 (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
 ND1 [HSA:4535] [KO:K03878]
 ND2 [HSA:4536] [KO:K03879]
 ND3 [HSA:4537] [KO:K03880]
 ND4 [HSA:4538] [KO:K03881]
 ND4L [HSA:4539] [KO:K03882]
 ND5 [HSA:4540] [KO:K03883]
 ND6 [HSA:4541] [KO:K03884]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: C537475
 OMIM: 252010 618222 618224 618225 618226 618228 618229 618230 618232 618233 301020 618234 618235 618236 618237 618238 618239 618240 618241 611126 618242 618243 618244 618245 618246 618247 618248 618249 618250 301021 618251 618252 618253 618776 619003 619170 619272","PMID:19336460
 著者        Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
 タイトル      Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
 雑誌        Brain 132:833-42 (2009)
 DOI:10.1093/brain/awp058
 PMID:9463323 (NDUFS4)
 著者        van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J
 タイトル      Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
 雑誌        Am J Hum Genet 62:262-8 (1998)
 DOI:10.1086/301716
 PMID:9837812 (NDUFS8)
 著者        Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L
 タイトル      The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
 雑誌        Am J Hum Genet 63:1598-608 (1998)
 DOI:10.1086/302154
 PMID:15269216 (NDUFS7)
 著者        Visch HJ, Rutter GA, Koopman WJ, Koenderink JB, Verkaart S, de Groot T, Varadi A, Mitchell KJ, van den Heuvel LP, Smeitink JA, Willems PH
 タイトル      Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
 雑誌        J Biol Chem 279:40328-36 (2004)
 DOI:10.1074/jbc.M408068200
 PMID:10080174 (NDUFV1)
 著者        Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L
 タイトル      Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
 雑誌        Nat Genet 21:260-1 (1999)
 DOI:10.1038/6772
 PMID:11349233 (NDUFS1)
 著者        Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A
 タイトル      Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
 雑誌        Am J Hum Genet 68:1344-52 (2001)
 DOI:10.1086/320603
 PMID:11220739 (NDUFS2)
 著者        Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L
 タイトル      Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
 雑誌        Ann Neurol 49:195-201 (2001)
 DOI:10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m
 PMID:12754703 (NDUFV2)
 著者        Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A
 タイトル      Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
 雑誌        Hum Mutat 21:582-6 (2003)
 DOI:10.1002/humu.10225
 PMID:14729820 (NDUFS3)
 著者        Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P
 タイトル      Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
 雑誌        J Med Genet 41:14-7 (2004)
 DOI:10.1136/jmg.2003.014316
 PMID:15372108 (NDUFS6)
 著者        Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR
 タイトル      NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
 雑誌        J Clin Invest 114:837-45 (2004)
 DOI:10.1172/JCI20683
 PMID:16200211 (NDUFAF2)
 著者        Ogilvie I, Kennaway NG, Shoubridge EA
 タイトル      A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
 雑誌        J Clin Invest 115:2784-92 (2005)
 DOI:10.1172/JCI26020
 PMID:21931170 (NDUFAF1)
 著者        Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S
 タイトル      Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
 雑誌        J Med Genet 48:691-7 (2011)
 DOI:10.1136/jmedgenet-2011-100340
 PMID:17262856 (NDUFA1)
 著者        Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J
 タイトル      X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
 雑誌        Ann Neurol 61:73-83 (2007)
 DOI:10.1002/ana.21036
 PMID:18513682 (NDUFA2)
 著者        Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA2 complex I mutation leads to Leigh disease.
 雑誌        Am J Hum Genet 82:1306-15 (2008)
 DOI:10.1016/j.ajhg.2008.05.007
 PMID:18306244 (NDUFA11)
 著者        Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O
 タイトル      Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
 雑誌        Ann Neurol 63:405-8 (2008)
 DOI:10.1002/ana.21332
 PMID:18179882 (NDUFAF4)
 著者        Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O
 タイトル      C6ORF66 is an assembly factor of mitochondrial complex I.
 雑誌        Am J Hum Genet 82:32-8 (2008)
 DOI:10.1016/j.ajhg.2007.08.003
 PMID:18940309 (NDUFAF5)
 著者        Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR
 タイトル      Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
 雑誌        Am J Hum Genet 83:468-78 (2008)
 DOI:10.1016/j.ajhg.2008.09.009
 PMID:18614015 (NDUFAF6)
 著者        Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK
 タイトル      A mitochondrial protein compendium elucidates complex I disease biology.
 雑誌        Cell 134:112-23 (2008)
 DOI:10.1016/j.cell.2008.06.016
 PMID:19463981 (NDUFAF3)
 著者        Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG
 タイトル      Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
 雑誌        Am J Hum Genet 84:718-27 (2009)
 DOI:10.1016/j.ajhg.2009.04.020
 PMID:20818383 (FOXRED1 NUBPL)
 著者        Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK
 タイトル      High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
 雑誌        Nat Genet 42:851-8 (2010)
 DOI:10.1038/ng.659
 PMID:17564966 (ACAD9)
 著者        He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
 タイトル      A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
 雑誌        Am J Hum Genet 81:87-103 (2007)
 DOI:10.1086/519219
 PMID:21150889 (NDUFA10)
 著者        Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
 雑誌        Eur J Hum Genet 19:270-4 (2011)
 DOI:10.1038/ejhg.2010.204
 PMID:21617257 (NDUFA12)
 著者        Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L
 タイトル      Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
 雑誌        J Med Genet 48:737-40 (2011)
 DOI:10.1136/jmg.2011.088856
 PMID:22200994 (NDUFB9)
 著者        Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rotig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H
 タイトル      Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
 雑誌        J Med Genet 49:83-9 (2012)
 DOI:10.1136/jmedgenet-2011-100577
 PMID:22277967 (NDUFB3)
 著者        Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK
 タイトル      Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
 雑誌        Sci Transl Med 4:118ra10 (2012)
 DOI:10.1126/scitranslmed.3003310
 PMID:22114105 (NDUFA9)
 著者        van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ
 タイトル      Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
 雑誌        J Med Genet 49:10-5 (2012)
 DOI:10.1136/jmedgenet-2011-100466
 PMID:22499348 (MTFMT)
 著者        Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H
 タイトル      Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
 雑誌        J Med Genet 49:277-83 (2012)
 DOI:10.1136/jmedgenet-2012-100846
 PMID:25901006 (NDUFA13)
 著者        Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A
 タイトル      Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
 雑誌        Hum Mol Genet 24:3948-55 (2015)
 DOI:10.1093/hmg/ddv133
 PMID:27374773 (TMEM126B)
 著者        Sanchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rotig A
 タイトル      Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
 雑誌        Am J Hum Genet 99:208-16 (2016)
 DOI:10.1016/j.ajhg.2016.05.022
 PMID:26741492 (NDUFB11)
 著者        Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y
 タイトル      A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
 雑誌        PLoS Genet 12:e1005679 (2016)
 DOI:10.1371/journal.pgen.1005679
 PMID:28604674 (TIMMDC1)
 著者        Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Konarikova E, Repp B, Kastenmuller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Glaser D, Taylor RW, Ghezzi D, Mayr JA, Rotig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H
 タイトル      Genetic diagnosis of Mendelian disorders via RNA sequencing.
 雑誌        Nat Commun 8:15824 (2017)
 DOI:10.1038/ncomms15824
 PMID:29429571 (NDUFB8)
 著者        Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG, Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E, Ploski R, Barcia G, Mayr JA
 タイトル      NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
 雑誌        Am J Hum Genet 102:460-467 (2018)
 DOI:10.1016/j.ajhg.2018.01.008
 PMID:30245030 (NDUFA6)
 著者        Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjornstad A, Henneke L, Gartner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW
 タイトル      Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
 雑誌        Am J Hum Genet 103:592-601 (2018)
 DOI:10.1016/j.ajhg.2018.08.013
 PMID:31866046 (NDUFAF8)
 著者        Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW
 タイトル      Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
 雑誌        Am J Hum Genet 106:92-101 (2020)
 DOI:10.1016/j.ajhg.2019.12.001
 PMID:28040730 (NDUFB10)
 著者        Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J
 タイトル      Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
 雑誌        Hum Mol Genet 26:702-716 (2017)
 DOI:10.1093/hmg/ddw431
 PMID:32969598 (NDUFC2)
 著者        Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW
 タイトル      Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
 雑誌        EMBO Mol Med 12:e12619 (2020)
 DOI:10.15252/emmm.202012619
 PMID:32385911 (NDUFA8)
 著者        Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y
 タイトル      A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
 雑誌        Clin Genet 98:155-165 (2020)
 DOI:10.1111/cge.13773
 PMID:10775530 (ND1)
 著者        Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S
 タイトル      Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
 雑誌        Am J Hum Genet 66:1900-4 (2000)
 DOI:10.1086/302927
 PMID:12192017 (ND2)
 著者        Schwartz M, Vissing J
 タイトル      Paternal inheritance of mitochondrial DNA.
 雑誌        N Engl J Med 347:576-80 (2002)
 DOI:10.1056/NEJMoa020350
 PMID:11456298 (ND3)
 著者        Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM
 タイトル      Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
 雑誌        Ann Neurol 50:104-7 (2001)
 DOI:10.1002/ana.1084
 PMID:12707444 (ND4)
 著者        Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW
 タイトル      Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
 雑誌        Neurology 60:1357-9 (2003)
 DOI:10.1212/01.wnl.0000055869.99975.4b
 PMID:11938446 (ND5)
 著者        Taylor RW, Morris AA, Hutchinson M, Turnbull DM
 タイトル      Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
 雑誌        Eur J Hum Genet 10:141-4 (2002)
 DOI:10.1038/sj.ejhg.5200773
 PMID:14595656 (ND6)
 著者        Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG
 タイトル      Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
 雑誌        Ann Neurol 54:665-9 (2003)
 DOI:10.1002/ana.10734","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00473"">H00473</a>","ミトコンドリア複合体 I 欠損症
 下位グループ    ミトコンドリア複合体 I 欠損症、核型 (MC1DN)
 ミトコンドリア複合体 I 欠損症、ミトコンドリア型
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.",,"(MC1DN1) NDUFS4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4724"">4724</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03937"">K03937</a>]
 (MC1DN2) NDUFS8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4728"">4728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03941"">K03941</a>]
 (MC1DN3) NDUFS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374291"">374291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03940"">K03940</a>]
 (MC1DN4) NDUFV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4723"">4723</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03942"">K03942</a>]
 (MC1DN5) NDUFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4719"">4719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03934"">K03934</a>]
 (MC1DN6) NDUFS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4720"">4720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03935"">K03935</a>]
 (MC1DN7) NDUFV2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4729"">4729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03943"">K03943</a>]
 (MC1DN8) NDUFS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4722"">4722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03936"">K03936</a>]
 (MC1DN9) NDUFS6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4726"">4726</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03939"">K03939</a>]
 (MC1DN10) NDUFAF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91942"">91942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18160"">K18160</a>]
 (MC1DN11) NDUFAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51103"">51103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18159"">K18159</a>]
 (MC1DN12) NDUFA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4694"">4694</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03945"">K03945</a>]
 (MC1DN13) NDUFA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4695"">4695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03946"">K03946</a>]
 (MC1DN14) NDUFA11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126328"">126328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03956"">K03956</a>]
 (MC1DN15) NDUFAF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29078"">29078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18161"">K18161</a>]
 (MC1DN16) NDUFAF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79133"">79133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18162"">K18162</a>]
 (MC1DN17) NDUFAF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137682"">137682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18163"">K18163</a>]
 (MC1DN18) NDUFAF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25915"">25915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09008"">K09008</a>]
 (MC1DN19) FOXRED1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55572"">55572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18166"">K18166</a>]
 (MC1DN20) ACAD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28976"">28976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15980"">K15980</a>]
 (MC1DN21) NUBPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80224"">80224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03593"">K03593</a>]
 (MC1DN22) NDUFA10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4705"">4705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03954"">K03954</a>]
 (MC1DN23) NDUFA12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55967"">55967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11352"">K11352</a>]
 (MC1DN24) NDUFB9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4715"">4715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03965"">K03965</a>]
 (MC1DN25) NDUFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4709"">4709</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03959"">K03959</a>]
 (MC1DN26) NDUFA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4704"">4704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03953"">K03953</a>]
 (MC1DN27) MTFMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123263"">123263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00604"">K00604</a>]
 (MC1DN28) NDUFA13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51079"">51079</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11353"">K11353</a>]
 (MC1DN29) TMEM126B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55863"">55863</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18165"">K18165</a>]
 (MC1DN30) NDUFB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54539"">54539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11351"">K11351</a>]
 (MC1DN31) TIMMDC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51300"">51300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23505"">K23505</a>]
 (MC1DN32) NDUFB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4714"">4714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03964"">K03964</a>]
 (MC1DN33) NDUFA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4700"">4700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03950"">K03950</a>]
 (MC1DN34) NDUFAF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284184"">284184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24726"">K24726</a>]
 (MC1DN35) NDUFB10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4716"">4716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03966"">K03966</a>]
 (MC1DN36) NDUFC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4718"">4718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03968"">K03968</a>]
 (MC1DN37) NDUFA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4702"">4702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03952"">K03952</a>]
 ND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4535"">4535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03878"">K03878</a>]
 ND2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4536"">4536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03879"">K03879</a>]
 ND3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4537"">4537</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03880"">K03880</a>]
 ND4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4538"">4538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03881"">K03881</a>]
 ND4L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4539"">4539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03882"">K03882</a>]
 ND5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4540"">4540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03883"">K03883</a>]
 ND6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4541"">4541</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03884"">K03884</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537475"">C537475</a>
 OMIM: <a href=""https://www.omim.org/entry/252010"">252010</a> <a href=""https://www.omim.org/entry/618222"">618222</a> <a href=""https://www.omim.org/entry/618224"">618224</a> <a href=""https://www.omim.org/entry/618225"">618225</a> <a href=""https://www.omim.org/entry/618226"">618226</a> <a href=""https://www.omim.org/entry/618228"">618228</a> <a href=""https://www.omim.org/entry/618229"">618229</a> <a href=""https://www.omim.org/entry/618230"">618230</a> <a href=""https://www.omim.org/entry/618232"">618232</a> <a href=""https://www.omim.org/entry/618233"">618233</a> <a href=""https://www.omim.org/entry/301020"">301020</a> <a href=""https://www.omim.org/entry/618234"">618234</a> <a href=""https://www.omim.org/entry/618235"">618235</a> <a href=""https://www.omim.org/entry/618236"">618236</a> <a href=""https://www.omim.org/entry/618237"">618237</a> <a href=""https://www.omim.org/entry/618238"">618238</a> <a href=""https://www.omim.org/entry/618239"">618239</a> <a href=""https://www.omim.org/entry/618240"">618240</a> <a href=""https://www.omim.org/entry/618241"">618241</a> <a href=""https://www.omim.org/entry/611126"">611126</a> <a href=""https://www.omim.org/entry/618242"">618242</a> <a href=""https://www.omim.org/entry/618243"">618243</a> <a href=""https://www.omim.org/entry/618244"">618244</a> <a href=""https://www.omim.org/entry/618245"">618245</a> <a href=""https://www.omim.org/entry/618246"">618246</a> <a href=""https://www.omim.org/entry/618247"">618247</a> <a href=""https://www.omim.org/entry/618248"">618248</a> <a href=""https://www.omim.org/entry/618249"">618249</a> <a href=""https://www.omim.org/entry/618250"">618250</a> <a href=""https://www.omim.org/entry/301021"">301021</a> <a href=""https://www.omim.org/entry/618251"">618251</a> <a href=""https://www.omim.org/entry/618252"">618252</a> <a href=""https://www.omim.org/entry/618253"">618253</a> <a href=""https://www.omim.org/entry/618776"">618776</a> <a href=""https://www.omim.org/entry/619003"">619003</a> <a href=""https://www.omim.org/entry/619170"">619170</a> <a href=""https://www.omim.org/entry/619272"">619272</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19336460"">19336460</a>
 著者        Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
 タイトル      Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
 雑誌        Brain 132:833-42 (2009)
 DOI:<a href=""https://doi.org/10.1093/brain/awp058"">10.1093/brain/awp058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9463323"">9463323</a> (NDUFS4)
 著者        van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J
 タイトル      Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
 雑誌        Am J Hum Genet 62:262-8 (1998)
 DOI:<a href=""https://doi.org/10.1086/301716"">10.1086/301716</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9837812"">9837812</a> (NDUFS8)
 著者        Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L
 タイトル      The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
 雑誌        Am J Hum Genet 63:1598-608 (1998)
 DOI:<a href=""https://doi.org/10.1086/302154"">10.1086/302154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15269216"">15269216</a> (NDUFS7)
 著者        Visch HJ, Rutter GA, Koopman WJ, Koenderink JB, Verkaart S, de Groot T, Varadi A, Mitchell KJ, van den Heuvel LP, Smeitink JA, Willems PH
 タイトル      Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
 雑誌        J Biol Chem 279:40328-36 (2004)
 DOI:<a href=""https://doi.org/10.1074/jbc.M408068200"">10.1074/jbc.M408068200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10080174"">10080174</a> (NDUFV1)
 著者        Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L
 タイトル      Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
 雑誌        Nat Genet 21:260-1 (1999)
 DOI:<a href=""https://doi.org/10.1038/6772"">10.1038/6772</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11349233"">11349233</a> (NDUFS1)
 著者        Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A
 タイトル      Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
 雑誌        Am J Hum Genet 68:1344-52 (2001)
 DOI:<a href=""https://doi.org/10.1086/320603"">10.1086/320603</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11220739"">11220739</a> (NDUFS2)
 著者        Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L
 タイトル      Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
 雑誌        Ann Neurol 49:195-201 (2001)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(20010201)49:"">10.1002/1531-8249(20010201)49:</a><a href=""https://doi.org/2<195:"">2<195:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/aid-ana39>3.0.co;2-m"">aid-ana39>3.0.co;2-m</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12754703"">12754703</a> (NDUFV2)
 著者        Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A
 タイトル      Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
 雑誌        Hum Mutat 21:582-6 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10225"">10.1002/humu.10225</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14729820"">14729820</a> (NDUFS3)
 著者        Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P
 タイトル      Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
 雑誌        J Med Genet 41:14-7 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.014316"">10.1136/jmg.2003.014316</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15372108"">15372108</a> (NDUFS6)
 著者        Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR
 タイトル      NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
 雑誌        J Clin Invest 114:837-45 (2004)
 DOI:<a href=""https://doi.org/10.1172/JCI20683"">10.1172/JCI20683</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16200211"">16200211</a> (NDUFAF2)
 著者        Ogilvie I, Kennaway NG, Shoubridge EA
 タイトル      A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
 雑誌        J Clin Invest 115:2784-92 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI26020"">10.1172/JCI26020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21931170"">21931170</a> (NDUFAF1)
 著者        Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S
 タイトル      Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
 雑誌        J Med Genet 48:691-7 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100340"">10.1136/jmedgenet-2011-100340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17262856"">17262856</a> (NDUFA1)
 著者        Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J
 タイトル      X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
 雑誌        Ann Neurol 61:73-83 (2007)
 DOI:<a href=""https://doi.org/10.1002/ana.21036"">10.1002/ana.21036</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18513682"">18513682</a> (NDUFA2)
 著者        Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA2 complex I mutation leads to Leigh disease.
 雑誌        Am J Hum Genet 82:1306-15 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.05.007"">10.1016/j.ajhg.2008.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18306244"">18306244</a> (NDUFA11)
 著者        Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O
 タイトル      Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
 雑誌        Ann Neurol 63:405-8 (2008)
 DOI:<a href=""https://doi.org/10.1002/ana.21332"">10.1002/ana.21332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179882"">18179882</a> (NDUFAF4)
 著者        Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O
 タイトル      C6ORF66 is an assembly factor of mitochondrial complex I.
 雑誌        Am J Hum Genet 82:32-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.08.003"">10.1016/j.ajhg.2007.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18940309"">18940309</a> (NDUFAF5)
 著者        Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR
 タイトル      Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
 雑誌        Am J Hum Genet 83:468-78 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.09.009"">10.1016/j.ajhg.2008.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18614015"">18614015</a> (NDUFAF6)
 著者        Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK
 タイトル      A mitochondrial protein compendium elucidates complex I disease biology.
 雑誌        Cell 134:112-23 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2008.06.016"">10.1016/j.cell.2008.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19463981"">19463981</a> (NDUFAF3)
 著者        Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG
 タイトル      Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
 雑誌        Am J Hum Genet 84:718-27 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.020"">10.1016/j.ajhg.2009.04.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20818383"">20818383</a> (FOXRED1 <a href=""https://pubmed.ncbi.nlm.nih.gov/NUBPL)"">NUBPL)</a>
 著者        Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK
 タイトル      High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
 雑誌        Nat Genet 42:851-8 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.659"">10.1038/ng.659</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17564966"">17564966</a> (ACAD9)
 著者        He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
 タイトル      A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
 雑誌        Am J Hum Genet 81:87-103 (2007)
 DOI:<a href=""https://doi.org/10.1086/519219"">10.1086/519219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21150889"">21150889</a> (NDUFA10)
 著者        Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
 雑誌        Eur J Hum Genet 19:270-4 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.204"">10.1038/ejhg.2010.204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21617257"">21617257</a> (NDUFA12)
 著者        Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L
 タイトル      Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
 雑誌        J Med Genet 48:737-40 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2011.088856"">10.1136/jmg.2011.088856</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22200994"">22200994</a> (NDUFB9)
 著者        Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rotig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H
 タイトル      Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
 雑誌        J Med Genet 49:83-9 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100577"">10.1136/jmedgenet-2011-100577</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22277967"">22277967</a> (NDUFB3)
 著者        Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK
 タイトル      Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
 雑誌        Sci Transl Med 4:118ra10 (2012)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.3003310"">10.1126/scitranslmed.3003310</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22114105"">22114105</a> (NDUFA9)
 著者        van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ
 タイトル      Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
 雑誌        J Med Genet 49:10-5 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100466"">10.1136/jmedgenet-2011-100466</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22499348"">22499348</a> (MTFMT)
 著者        Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H
 タイトル      Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
 雑誌        J Med Genet 49:277-83 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100846"">10.1136/jmedgenet-2012-100846</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25901006"">25901006</a> (NDUFA13)
 著者        Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A
 タイトル      Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
 雑誌        Hum Mol Genet 24:3948-55 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv133"">10.1093/hmg/ddv133</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27374773"">27374773</a> (TMEM126B)
 著者        Sanchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rotig A
 タイトル      Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
 雑誌        Am J Hum Genet 99:208-16 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.022"">10.1016/j.ajhg.2016.05.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26741492"">26741492</a> (NDUFB11)
 著者        Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y
 タイトル      A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
 雑誌        PLoS Genet 12:e1005679 (2016)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005679"">10.1371/journal.pgen.1005679</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28604674"">28604674</a> (TIMMDC1)
 著者        Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Konarikova E, Repp B, Kastenmuller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Glaser D, Taylor RW, Ghezzi D, Mayr JA, Rotig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H
 タイトル      Genetic diagnosis of Mendelian disorders via RNA sequencing.
 雑誌        Nat Commun 8:15824 (2017)
 DOI:<a href=""https://doi.org/10.1038/ncomms15824"">10.1038/ncomms15824</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29429571"">29429571</a> (NDUFB8)
 著者        Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG, Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E, Ploski R, Barcia G, Mayr JA
 タイトル      NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
 雑誌        Am J Hum Genet 102:460-467 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.01.008"">10.1016/j.ajhg.2018.01.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30245030"">30245030</a> (NDUFA6)
 著者        Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjornstad A, Henneke L, Gartner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW
 タイトル      Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
 雑誌        Am J Hum Genet 103:592-601 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.08.013"">10.1016/j.ajhg.2018.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31866046"">31866046</a> (NDUFAF8)
 著者        Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW
 タイトル      Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
 雑誌        Am J Hum Genet 106:92-101 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.001"">10.1016/j.ajhg.2019.12.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28040730"">28040730</a> (NDUFB10)
 著者        Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J
 タイトル      Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
 雑誌        Hum Mol Genet 26:702-716 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw431"">10.1093/hmg/ddw431</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32969598"">32969598</a> (NDUFC2)
 著者        Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW
 タイトル      Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
 雑誌        EMBO Mol Med 12:e12619 (2020)
 DOI:<a href=""https://doi.org/10.15252/emmm.202012619"">10.15252/emmm.202012619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32385911"">32385911</a> (NDUFA8)
 著者        Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y
 タイトル      A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
 雑誌        Clin Genet 98:155-165 (2020)
 DOI:<a href=""https://doi.org/10.1111/cge.13773"">10.1111/cge.13773</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10775530"">10775530</a> (ND1)
 著者        Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S
 タイトル      Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
 雑誌        Am J Hum Genet 66:1900-4 (2000)
 DOI:<a href=""https://doi.org/10.1086/302927"">10.1086/302927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12192017"">12192017</a> (ND2)
 著者        Schwartz M, Vissing J
 タイトル      Paternal inheritance of mitochondrial DNA.
 雑誌        N Engl J Med 347:576-80 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa020350"">10.1056/NEJMoa020350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11456298"">11456298</a> (ND3)
 著者        Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM
 タイトル      Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
 雑誌        Ann Neurol 50:104-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/ana.1084"">10.1002/ana.1084</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12707444"">12707444</a> (ND4)
 著者        Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW
 タイトル      Late-onset encephalopathy associated with a <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C11777A"">C11777A</a> mutation of mitochondrial DNA.
 雑誌        Neurology 60:1357-9 (2003)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000055869.99975.4b"">10.1212/01.wnl.0000055869.99975.4b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11938446"">11938446</a> (ND5)
 著者        Taylor RW, Morris AA, Hutchinson M, Turnbull DM
 タイトル      Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
 雑誌        Eur J Hum Genet 10:141-4 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200773"">10.1038/sj.ejhg.5200773</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14595656"">14595656</a> (ND6)
 著者        Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG
 タイトル      Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
 雑誌        Ann Neurol 54:665-9 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10734"">10.1002/ana.10734</a>"
H00474,蝸牛様骨盤異形成症,,,Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait.,先天奇形,,SLC35D1 [HSA:23169] [KO:K15281],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C536637
 OMIM: 269250","PMID:3799723
 著者        Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL
 タイトル      A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
 雑誌        Am J Med Genet 25:47-59 (1986)
 DOI:10.1002/ajmg.1320250107
 PMID:15386610
 著者        Varkey JJ, Jones RA
 タイトル      Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.
 雑誌        Ultrasound Obstet Gynecol 24:575-7 (2004)
 DOI:10.1002/uog.1115
 PMID:11200994
 著者        Nikkels PG, Stigter RH, Knol IE, van der Harten HJ
 タイトル      Schneckenbecken dysplasia, radiology, and histology.
 雑誌        Pediatr Radiol 31:27-30 (2001)
 DOI:10.1007/s002470000357
 PMID:19508970
 著者        Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S
 タイトル      Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
 雑誌        J Med Genet 46:562-8 (2009)
 DOI:10.1136/jmg.2008.065201
 PMID:17952091
 著者        Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S
 タイトル      Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
 雑誌        Nat Med 13:1363-7 (2007)
 DOI:10.1038/nm1655","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00474"">H00474</a>",蝸牛様骨盤異形成症,Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait.,,"SLC35D1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23169"">23169</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15281"">K15281</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536637"">C536637</a>
 OMIM: <a href=""https://www.omim.org/entry/269250"">269250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3799723"">3799723</a>
 著者        Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL
 タイトル      A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
 雑誌        Am J Med Genet 25:47-59 (1986)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320250107"">10.1002/ajmg.1320250107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15386610"">15386610</a>
 著者        Varkey JJ, Jones RA
 タイトル      Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.
 雑誌        Ultrasound Obstet Gynecol 24:575-7 (2004)
 DOI:<a href=""https://doi.org/10.1002/uog.1115"">10.1002/uog.1115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11200994"">11200994</a>
 著者        Nikkels PG, Stigter RH, Knol IE, van der Harten HJ
 タイトル      Schneckenbecken dysplasia, radiology, and histology.
 雑誌        Pediatr Radiol 31:27-30 (2001)
 DOI:<a href=""https://doi.org/10.1007/s002470000357"">10.1007/s002470000357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19508970"">19508970</a>
 著者        Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S
 タイトル      Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
 雑誌        J Med Genet 46:562-8 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.065201"">10.1136/jmg.2008.065201</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17952091"">17952091</a>
 著者        Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S
 タイトル      Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
 雑誌        Nat Med 13:1363-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/nm1655"">10.1038/nm1655</a>"
H00475,拡張型頭頂孔/頭蓋裂,,,Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 or MSX2 gene mutations.,先天奇形,,"(parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:4488] [KO:K09341]
 (parietal foramina 2) ALX4 [HSA:60529] [KO:K09451]",,,,,,"ICD-11: LB70.Y
 ICD-10: Q75.8
 MeSH: C566826
 OMIM: 168500 609597 168550","PMID:20301307
 著者        Wilkie AOM, Mavrogiannis LA
 タイトル      Enlarged Parietal Foramina/Cranium Bifidum
 雑誌        GeneReviews (1993)
 PMID:11106354
 著者        Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W
 タイトル      The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
 雑誌        J Med Genet 37:916-20 (2000)
 DOI:10.1136/jmg.37.12.916
 PMID:20306736
 著者        Bello TO, Bajomo AA, Adeniyi TO
 タイトル      Foramina parietalia permagna in a Nigerian family.
 雑誌        West Afr J Med 28:182-4 (2009)
 DOI:10.4314/wajm.v28i3.48433","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00475"">H00475</a>",拡張型頭頂孔/頭蓋裂,Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 or MSX2 gene mutations.,,"(parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4488"">4488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09341"">K09341</a>]
 (parietal foramina 2) ALX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60529"">60529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09451"">K09451</a>]",,,,,,"ICD-11: LB70.Y
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566826"">C566826</a>
 OMIM: <a href=""https://www.omim.org/entry/168500"">168500</a> <a href=""https://www.omim.org/entry/609597"">609597</a> <a href=""https://www.omim.org/entry/168550"">168550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301307"">20301307</a>
 著者        Wilkie AOM, Mavrogiannis LA
 タイトル      Enlarged Parietal Foramina/Cranium Bifidum
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11106354"">11106354</a>
 著者        Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W
 タイトル      The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
 雑誌        J Med Genet 37:916-20 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.12.916"">10.1136/jmg.37.12.916</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20306736"">20306736</a>
 著者        Bello TO, Bajomo AA, Adeniyi TO
 タイトル      Foramina parietalia permagna in a Nigerian family.
 雑誌        West Afr J Med 28:182-4 (2009)
 DOI:<a href=""https://doi.org/10.4314/wajm.v28i3.48433"">10.4314/wajm.v28i3.48433</a>"
H00476,多発性骨端異形成症,,,"Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD).",先天奇形,,"(EDM1) COMP [HSA:1311] [KO:K04659]
 (EDM2) COL9A2 [HSA:1298] [KO:K08131]
 (EDM3) COL9A3 [HSA:1299] [KO:K08131]
 (EDM4) DTDST [HSA:1836] [KO:K14701]
 (EDM5) MATN3 [HSA:4148] [KO:K19467]
 (EDM6) COL9A1 [HSA:1297] [KO:K08131]
 (EDM7) CANT1 [HSA:124583] [KO:K12304]
 (EDMMD) COL2A1 [HSA:1280] [KO:K19719]",,,,,,"ICD-11: LD24.61
 ICD-10: Q77.3
 MeSH: C535501 C535502 C535503 C535504 C535505
 OMIM: 132400 600204 600969 226900 607078 614135 132450 617719","PMID:18328978
 著者        Unger S, Bonafe L, Superti-Furga A
 タイトル      Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
 雑誌        Best Pract Res Clin Rheumatol 22:19-32 (2008)
 DOI:10.1016/j.berh.2007.11.009
 PMID:11891674
 著者        Unger S, Hecht JT
 タイトル      Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
 雑誌        Am J Med Genet 106:244-50 (2001)
 DOI:10.1002/ajmg.10234
 PMID:12768438 (COMP)
 著者        Song HR, Lee KS, Li QW, Koo SK, Jung SC
 タイトル      Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
 雑誌        J Hum Genet 48:222-225 (2003)
 DOI:10.1007/s10038-003-0013-7
 PMID:8528240 (COL9A2)
 著者        Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC
 タイトル      A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
 雑誌        Nat Genet 12:103-5 (1996)
 DOI:10.1038/ng0196-103
 PMID:10655510 (COL9A3)
 著者        Bonnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
 タイトル      A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
 雑誌        Proc Natl Acad Sci U S A 97:1212-7 (2000)
 DOI:10.1073/pnas.97.3.1212
 PMID:12966518 (DTDST)
 著者        Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG
 タイトル      Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
 雑誌        Am J Med Genet A 122A:187-92 (2003)
 DOI:10.1002/ajmg.a.20282
 PMID:11479597 (MATN3)
 著者        Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD
 タイトル      Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
 雑誌        Nat Genet 28:393-6 (2001)
 DOI:10.1038/ng573
 PMID:11565064 (COL9A1)
 著者        Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L
 タイトル      A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
 雑誌        Am J Hum Genet 69:969-80 (2001)
 DOI:10.1086/324023
 PMID:9800905 (COL2A1)
 著者        Ballo R, Beighton PH, Ramesar RS
 タイトル      Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
 雑誌        Am J Med Genet 80:6-11 (1998)
 DOI:10.1002/(SICI)1096-8628(19981102)80:1<6::AID-AJMG2>3.0.CO;2-0
 PMID:28742282 (CANT1)
 著者        Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH
 タイトル      MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
 雑誌        Am J Med Genet A 173:2415-2421 (2017)
 DOI:10.1002/ajmg.a.38349","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00476"">H00476</a>",多発性骨端異形成症,"Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD).",,"(EDM1) COMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1311"">1311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04659"">K04659</a>]
 (EDM2) COL9A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1298"">1298</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]
 (EDM3) COL9A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1299"">1299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]
 (EDM4) DTDST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1836"">1836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14701"">K14701</a>]
 (EDM5) MATN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4148"">4148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19467"">K19467</a>]
 (EDM6) COL9A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1297"">1297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]
 (EDM7) CANT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124583"">124583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12304"">K12304</a>]
 (EDMMD) COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.61
 ICD-10: Q77.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535501"">C535501</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535502"">C535502</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535503"">C535503</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535504"">C535504</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535505"">C535505</a>
 OMIM: <a href=""https://www.omim.org/entry/132400"">132400</a> <a href=""https://www.omim.org/entry/600204"">600204</a> <a href=""https://www.omim.org/entry/600969"">600969</a> <a href=""https://www.omim.org/entry/226900"">226900</a> <a href=""https://www.omim.org/entry/607078"">607078</a> <a href=""https://www.omim.org/entry/614135"">614135</a> <a href=""https://www.omim.org/entry/132450"">132450</a> <a href=""https://www.omim.org/entry/617719"">617719</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328978"">18328978</a>
 著者        Unger S, Bonafe L, Superti-Furga A
 タイトル      Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
 雑誌        Best Pract Res Clin Rheumatol 22:19-32 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.009"">10.1016/j.berh.2007.11.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11891674"">11891674</a>
 著者        Unger S, Hecht JT
 タイトル      Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
 雑誌        Am J Med Genet 106:244-50 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10234"">10.1002/ajmg.10234</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12768438"">12768438</a> (COMP)
 著者        Song HR, Lee KS, Li QW, Koo SK, Jung SC
 タイトル      Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
 雑誌        J Hum Genet 48:222-225 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0013-7"">10.1007/s10038-003-0013-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8528240"">8528240</a> (COL9A2)
 著者        Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC
 タイトル      A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
 雑誌        Nat Genet 12:103-5 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0196-103"">10.1038/ng0196-103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10655510"">10655510</a> (COL9A3)
 著者        Bonnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
 タイトル      A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
 雑誌        Proc Natl Acad Sci U S A 97:1212-7 (2000)
 DOI:<a href=""https://doi.org/10.1073/pnas.97.3.1212"">10.1073/pnas.97.3.1212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12966518"">12966518</a> (DTDST)
 著者        Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG
 タイトル      Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
 雑誌        Am J Med Genet A 122A:187-92 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20282"">10.1002/ajmg.a.20282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11479597"">11479597</a> (MATN3)
 著者        Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD
 タイトル      Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
 雑誌        Nat Genet 28:393-6 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng573"">10.1038/ng573</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11565064"">11565064</a> (COL9A1)
 著者        Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L
 タイトル      A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
 雑誌        Am J Hum Genet 69:969-80 (2001)
 DOI:<a href=""https://doi.org/10.1086/324023"">10.1086/324023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9800905"">9800905</a> (COL2A1)
 著者        Ballo R, Beighton PH, Ramesar RS
 タイトル      Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
 雑誌        Am J Med Genet 80:6-11 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19981102)80:"">10.1002/(SICI)1096-8628(19981102)80:</a><a href=""https://doi.org/1<6:"">1<6:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG2>3.0.CO;2-0"">AID-AJMG2>3.0.CO;2-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28742282"">28742282</a> (CANT1)
 著者        Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH
 タイトル      MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
 雑誌        Am J Med Genet A 173:2415-2421 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38349"">10.1002/ajmg.a.38349</a>"
H00477,"偽軟骨異形成症
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,"Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP.",先天奇形,,COMP [HSA:1311] [KO:K04659],,,,,,"ICD-11: LD24.60
 ICD-10: Q77.8
 MeSH: C535819
 OMIM: 177170","PMID:11891674
 著者        Unger S, Hecht JT
 タイトル      Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
 雑誌        Am J Med Genet 106:244-50 (2001)
 DOI:10.1002/ajmg.10234
 PMID:15094116
 著者        Posey KL, Hayes E, Haynes R, Hecht JT
 タイトル      Role of TSP-5/COMP in pseudoachondroplasia.
 雑誌        Int J Biochem Cell Biol 36:1005-12 (2004)
 DOI:10.1016/j.biocel.2004.01.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00477"">H00477</a>","偽軟骨異形成症
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP.",,"COMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1311"">1311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04659"">K04659</a>]",,,,,,"ICD-11: LD24.60
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535819"">C535819</a>
 OMIM: <a href=""https://www.omim.org/entry/177170"">177170</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11891674"">11891674</a>
 著者        Unger S, Hecht JT
 タイトル      Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
 雑誌        Am J Med Genet 106:244-50 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10234"">10.1002/ajmg.10234</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15094116"">15094116</a>
 著者        Posey KL, Hayes E, Haynes R, Hecht JT
 タイトル      Role of TSP-5/COMP in pseudoachondroplasia.
 雑誌        Int J Biochem Cell Biol 36:1005-12 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2004.01.011"">10.1016/j.biocel.2004.01.011</a>"
H00478,"プラダー・ウィリー症候群
 下位グループ    Schaaf-Yang 症候群 [DS:H02325]
 上位グループ    男子性腺機能不全症 [DS:H02027]",,,"Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.",染色体異常,,"NDN [HSA:4692] [KO:K19482]
 SNRPN [HSA:6638] [KO:K11100]
 NPAP1 [HSA:23742]",,,,ソマトロピン [DR:D02691],See also H01732 Angelman syndrome (AS).,"ICD-11: LD90.3
 ICD-10: Q87.1
 MeSH: D011218
 OMIM: 176270","PMID:11180221
 著者        Cassidy SB, Dykens E, Williams CA
 タイトル      Prader-Willi and Angelman syndromes: sister imprinted disorders.
 雑誌        Am J Med Genet 97:136-46 (2000)
 DOI:10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
 PMID:18627066
 著者        Horsthemke B, Wagstaff J
 タイトル      Mechanisms of imprinting of the Prader-Willi/Angelman region.
 雑誌        Am J Med Genet A 146A:2041-52 (2008)
 DOI:10.1002/ajmg.a.32364
 PMID:18930956 (NDN)
 著者        Miller NL, Wevrick R, Mellon PL
 タイトル      Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
 雑誌        Hum Mol Genet 18:248-60 (2009)
 DOI:10.1093/hmg/ddn344
 PMID:9915945 (SNRPN)
 著者        Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA
 タイトル      Prader-Willi syndrome is caused by disruption of the SNRPN gene.
 雑誌        Am J Hum Genet 64:70-6 (1999)
 DOI:10.1086/302177
 PMID:24482533 (NPAP1)
 著者        Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B
 タイトル      The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.
 雑誌        Genome Biol Evol 6:344-51 (2014)
 DOI:10.1093/gbe/evu019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00478"">H00478</a>","プラダー・ウィリー症候群
 下位グループ    Schaaf-Yang 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02325"">H02325</a>]
 上位グループ    男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.",,"NDN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4692"">4692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19482"">K19482</a>]
 SNRPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6638"">6638</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11100"">K11100</a>]
 NPAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23742"">23742</a>]",,,,"ソマトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02691"">D02691</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732"">H01732</a> Angelman syndrome (AS).","ICD-11: LD90.3
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011218"">D011218</a>
 OMIM: <a href=""https://www.omim.org/entry/176270"">176270</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11180221"">11180221</a>
 著者        Cassidy SB, Dykens E, Williams CA
 タイトル      Prader-Willi and Angelman syndromes: sister imprinted disorders.
 雑誌        Am J Med Genet 97:136-46 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(200022)97:"">10.1002/1096-8628(200022)97:</a><a href=""https://doi.org/2<136:"">2<136:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-V"">AID-AJMG5>3.0.CO;2-V</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18627066"">18627066</a>
 著者        Horsthemke B, Wagstaff J
 タイトル      Mechanisms of imprinting of the Prader-Willi/Angelman region.
 雑誌        Am J Med Genet A 146A:2041-52 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32364"">10.1002/ajmg.a.32364</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18930956"">18930956</a> (NDN)
 著者        Miller NL, Wevrick R, Mellon PL
 タイトル      Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
 雑誌        Hum Mol Genet 18:248-60 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn344"">10.1093/hmg/ddn344</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9915945"">9915945</a> (SNRPN)
 著者        Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA
 タイトル      Prader-Willi syndrome is caused by disruption of the SNRPN gene.
 雑誌        Am J Hum Genet 64:70-6 (1999)
 DOI:<a href=""https://doi.org/10.1086/302177"">10.1086/302177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24482533"">24482533</a> (NPAP1)
 著者        Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B
 タイトル      The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.
 雑誌        Genome Biol Evol 6:344-51 (2014)
 DOI:<a href=""https://doi.org/10.1093/gbe/evu019"">10.1093/gbe/evu019</a>"
H00479,"骨幹端異形成症
 下位グループ    骨幹端異形成症 Schmid 型
 骨幹端異形成症 McKusik 型 [DS:H01966]
 骨幹端異形成症 Jansen 型
 骨幹端異形成症 Pyle 型
 シュバッハマン・ダイアモンド症候群 [DS:H00439]
 回復性骨幹端異形成症 (MANDP)
 貧毛を伴わない骨幹端形成異常 [DS:H00518]",,,Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in these diseases.,先天奇形,,"(Schmid) COL10A1 [HSA:1300] [KO:K19479]
 (McKusik) RMRP [HSA:6023] [KO:K14576]
 (MCDJ) PTHR1 [HSA:5745] [KO:K04585]
 (PYL) SFRP4 [HSA:6424] [KO:K02185]
 (MANDP1) MMP13 [HSA:4322] [KO:K07994]
 (MANDP2) MMP9 [HSA:4318] [KO:K01403]",,,,,,"ICD-11: LD24.7
 ICD-10: Q78.5 Q78.8
 MeSH: C536252
 OMIM: 156500 250250 156400 260400 265900 602111 613073","PMID:21447328
 著者        Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X
 タイトル      A novel mutation leading to elongation of the deduced alpha1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
 雑誌        Clin Chim Acta 412:1266-9 (2011)
 DOI:10.1016/j.cca.2011.03.026
 PMID:10721676
 著者        Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T
 タイトル      A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
 雑誌        J Hum Genet 45:105-8 (2000)
 DOI:10.1007/s100380050024
 PMID:8579897
 著者        Olsen BR
 タイトル      Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.
 雑誌        Bone 17:45S-49S (1995)
 DOI:10.1016/8756-3282(95)00208-U
 PMID:16832578
 著者        Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S
 タイトル      Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
 雑誌        J Hum Genet 51:706-10 (2006)
 DOI:10.1007/s10038-006-0015-3
 PMID:10901979
 著者        Kozlowski K, Campbell JB, Azouz ME, Sprague P
 タイトル      Metaphyseal chondrodysplasia, type Jansen.
 雑誌        Australas Radiol 43:544-7 (1999)
 DOI:10.1046/j.1440-1673.1999.00729.x
 PMID:12357475
 著者        Cohen MM Jr
 タイトル      Some chondrodysplasias with short limbs: molecular perspectives.
 雑誌        Am J Med Genet 112:304-13 (2002)
 DOI:10.1002/ajmg.10780
 PMID:7701349
 著者        Schipani E, Kruse K, Juppner H
 タイトル      A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
 雑誌        Science 268:98-100 (1995)
 DOI:10.1126/science.7701349
 PMID:17400792
 著者        Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S
 タイトル      The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
 雑誌        J Med Genet 44:e73 (2007)
 DOI:10.1136/jmg.2006.043869
 PMID:9916842
 著者        Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T
 タイトル      Metaphyseal anadysplasia: evidence of genetic heterogeneity.
 雑誌        Am J Med Genet 82:43-8 (1999)
 DOI:10.1002/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I
 PMID:19615667
 著者        Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B
 タイトル      Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
 雑誌        Am J Hum Genet 85:168-78 (2009)
 DOI:10.1016/j.ajhg.2009.06.014
 PMID:1867263
 著者        Maroteaux P, Verloes A, Stanescu V, Stanescu R
 タイトル      Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
 雑誌        Am J Med Genet 39:4-10 (1991)
 DOI:10.1002/ajmg.1320390103
 PMID:27355534
 著者        Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R
 タイトル      Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
 雑誌        N Engl J Med 374:2553-2562 (2016)
 DOI:10.1056/NEJMoa1509342","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00479"">H00479</a>","骨幹端異形成症
 下位グループ    骨幹端異形成症 Schmid 型
 骨幹端異形成症 McKusik 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01966"">H01966</a>]
 骨幹端異形成症 Jansen 型
 骨幹端異形成症 Pyle 型
 シュバッハマン・ダイアモンド症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00439"">H00439</a>]
 回復性骨幹端異形成症 (MANDP)
 貧毛を伴わない骨幹端形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00518"">H00518</a>]",Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in these diseases.,,"(Schmid) COL10A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1300"">1300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19479"">K19479</a>]
 (McKusik) RMRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6023"">6023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14576"">K14576</a>]
 (MCDJ) PTHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5745"">5745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04585"">K04585</a>]
 (PYL) SFRP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6424"">6424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02185"">K02185</a>]
 (MANDP1) MMP13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4322"">4322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07994"">K07994</a>]
 (MANDP2) MMP9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4318"">4318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01403"">K01403</a>]",,,,,,"ICD-11: LD24.7
 ICD-10: Q78.5 Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536252"">C536252</a>
 OMIM: <a href=""https://www.omim.org/entry/156500"">156500</a> <a href=""https://www.omim.org/entry/250250"">250250</a> <a href=""https://www.omim.org/entry/156400"">156400</a> <a href=""https://www.omim.org/entry/260400"">260400</a> <a href=""https://www.omim.org/entry/265900"">265900</a> <a href=""https://www.omim.org/entry/602111"">602111</a> <a href=""https://www.omim.org/entry/613073"">613073</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21447328"">21447328</a>
 著者        Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X
 タイトル      A novel mutation leading to elongation of the deduced alpha1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
 雑誌        Clin Chim Acta 412:1266-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2011.03.026"">10.1016/j.cca.2011.03.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10721676"">10721676</a>
 著者        Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T
 タイトル      A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
 雑誌        J Hum Genet 45:105-8 (2000)
 DOI:<a href=""https://doi.org/10.1007/s100380050024"">10.1007/s100380050024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8579897"">8579897</a>
 著者        Olsen BR
 タイトル      Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.
 雑誌        Bone 17:45S-49S (1995)
 DOI:<a href=""https://doi.org/10.1016/8756-3282(95)00208-U"">10.1016/8756-3282(95)00208-U</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16832578"">16832578</a>
 著者        Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S
 タイトル      Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
 雑誌        J Hum Genet 51:706-10 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10038-006-0015-3"">10.1007/s10038-006-0015-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10901979"">10901979</a>
 著者        Kozlowski K, Campbell JB, Azouz ME, Sprague P
 タイトル      Metaphyseal chondrodysplasia, type Jansen.
 雑誌        Australas Radiol 43:544-7 (1999)
 DOI:<a href=""https://doi.org/10.1046/j.1440-1673.1999.00729.x"">10.1046/j.1440-1673.1999.00729.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12357475"">12357475</a>
 著者        Cohen MM Jr
 タイトル      Some chondrodysplasias with short limbs: molecular perspectives.
 雑誌        Am J Med Genet 112:304-13 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10780"">10.1002/ajmg.10780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7701349"">7701349</a>
 著者        Schipani E, Kruse K, Juppner H
 タイトル      A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
 雑誌        Science 268:98-100 (1995)
 DOI:<a href=""https://doi.org/10.1126/science.7701349"">10.1126/science.7701349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17400792"">17400792</a>
 著者        Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S
 タイトル      The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
 雑誌        J Med Genet 44:e73 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.043869"">10.1136/jmg.2006.043869</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9916842"">9916842</a>
 著者        Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T
 タイトル      Metaphyseal anadysplasia: evidence of genetic heterogeneity.
 雑誌        Am J Med Genet 82:43-8 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19990101)82:"">10.1002/(SICI)1096-8628(19990101)82:</a><a href=""https://doi.org/1<43:"">1<43:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG9>3.0.CO;2-I"">AID-AJMG9>3.0.CO;2-I</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19615667"">19615667</a>
 著者        Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B
 タイトル      Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
 雑誌        Am J Hum Genet 85:168-78 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.014"">10.1016/j.ajhg.2009.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1867263"">1867263</a>
 著者        Maroteaux P, Verloes A, Stanescu V, Stanescu R
 タイトル      Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
 雑誌        Am J Med Genet 39:4-10 (1991)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320390103"">10.1002/ajmg.1320390103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27355534"">27355534</a>
 著者        Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R
 タイトル      Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
 雑誌        N Engl J Med 374:2553-2562 (2016)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1509342"">10.1056/NEJMoa1509342</a>"
H00480,X 連鎖精神遅滞,,,"X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms (NS-XLMR), depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. The majority of genes that are mutated in NS-XLMR encode proteins are involved in three distinct pathways: Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; Rab GTPases pathway regulating synaptic vesicle cycling; gene expression regulation.",精神及び行動の障害,,"(MRX1/78) IQSEC2 [HSA:23096] [KO:K12495]
 (MRX3) HCFC1 [HSA:3054] [KO:K14966]
 (MRX9/44) FTSJ1 [HSA:24140] [KO:K14864]
 (MRX12/35) THOC2 [HSA:57187] [KO:K12879]
 (MRX19) RPS6KA3 [HSA:6197] [KO:K04373]
 (MRX21/34) IL1RAPL1 [HSA:11141] [KO:K05170]
 (MRX29) ARX [HSA:170302] [KO:K09452]
 (MRX30/47) PAK3 [HSA:5063] [KO:K05733]
 (MRX41) GDI1 [HSA:2664] [KO:K17255]
 (MRX49/15) CLCN4 [HSA:1183] [KO:K05012]
 (MRX58) TSPAN7 [HSA:7102] [KO:K06571]
 (MRX61) RLIM [HSA:51132] [KO:K16271]
 (MRX63) ACSL4 [HSA:2182] [KO:K01897]
 (MRX72) RAB39B [HSA:116442] [KO:K07925]
 (MRX90) DLG3 [HSA:1741] [KO:K21098]
 (MRX91) ZDHHC15 [HSA:158866] [KO:K20028]
 (MRX93) BRWD3 [HSA:254065] [KO:K11798]
 (MRX96) SYP [HSA:6855]
 (MRX97) ZNF711 [HSA:7552] [KO:K24376]
 (MRX98) NEXMIF [HSA:340533] [KO:K25862]
 (MRX99) USP9X [HSA:8239] [KO:K11840]
 (MRX100) KIF4A [HSA:24137] [KO:K10395]
 (MRX101) MID2 [HSA:11043] [KO:K10647]
 (MRX102) DDX3X [HSA:1654] [KO:K11594]
 (MRX103) KLHL15 [HSA:80311] [KO:K10452]
 (MRX104) FRMPD4 [HSA:9758] [KO:K23956]
 (MRX105) USP27X [HSA:389856] [KO:K11366]
 (MRX106) OGT [HSA:8473] [KO:K09667]
 (MRX107) STEEP1 [HSA:63932] [KO:K24996]
 (MRX108) SLC9A7 [HSA:84679] [KO:K12041]
 (MRX109) AFF2 [HSA:2334] [KO:K15194]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: C564490
 OMIM: 309530 309541 309549 300957 300844 300143 300419 300558 300849 300436 300114 300210 300978 300387 300271 300850 300577 300659 300802 300803 300912 300919 300923 300982 300983 300984 300997 301013 301024 309548","PMID:15690397
 著者        Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
 タイトル      Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
 雑誌        J Cell Physiol 204:8-20 (2005)
 DOI:10.1002/jcp.20296
 PMID:16118346
 著者        Raymond FL
 タイトル      X linked mental retardation: a clinical guide.
 雑誌        J Med Genet 43:193-200 (2006)
 DOI:10.1136/jmg.2005.033043
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501
 PMID:20473311 (IQSEC2)
 著者        Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gecz J
 タイトル      Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
 雑誌        Nat Genet 42:486-8 (2010)
 DOI:10.1038/ng.588
 PMID:23000143 (HCFC1)
 著者        Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
 タイトル      A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 91:694-702 (2012)
 DOI:10.1016/j.ajhg.2012.08.011
 PMID:15162322 (FTSJ1)
 著者        Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH
 タイトル      Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
 雑誌        Am J Hum Genet 75:305-9 (2004)
 DOI:10.1086/422507
 PMID:26166480 (THOC2)
 著者        Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J
 タイトル      THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
 雑誌        Am J Hum Genet 97:302-10 (2015)
 DOI:10.1016/j.ajhg.2015.05.021
 PMID:10319851 (RPS6KA3)
 著者        Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A
 タイトル      A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
 雑誌        Nat Genet 22:13-4 (1999)
 DOI:10.1038/8719
 PMID:10471494 (IL1RAPL1)
 著者        Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J
 タイトル      A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
 雑誌        Nat Genet 23:25-31 (1999)
 DOI:10.1038/12623
 PMID:11971879 (ARX)
 著者        Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J
 タイトル      ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
 雑誌        Hum Mol Genet 11:981-91 (2002)
 DOI:10.1093/hmg/11.8.981
 PMID:9731525 (PAK3)
 著者        Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA
 タイトル      PAK3 mutation in nonsyndromic X-linked mental retardation.
 雑誌        Nat Genet 20:25-30 (1998)
 DOI:10.1038/1675
 PMID:9620768 (GDI1)
 著者        D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D
 タイトル      Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
 雑誌        Nat Genet 19:134-9 (1998)
 DOI:10.1038/487
 PMID:25644381 (CLCN4 FRMPD4 USP27X)
 著者        Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
 タイトル      X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
 雑誌        Mol Psychiatry 21:133-48 (2016)
 DOI:10.1038/mp.2014.193
 PMID:10655063 (TSPAN7)
 著者        Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J
 タイトル      A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
 雑誌        Nat Genet 24:167-70 (2000)
 DOI:10.1038/72829
 PMID:25735484 (RLIM)
 著者        Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T
 タイトル      Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
 雑誌        Eur J Hum Genet 23:1652-6 (2015)
 DOI:10.1038/ejhg.2015.30
 PMID:11889465 (ACSL4)
 著者        Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A
 タイトル      FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
 雑誌        Nat Genet 30:436-40 (2002)
 DOI:10.1038/ng857
 PMID:20159109 (RAB39B)
 著者        Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P
 タイトル      Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
 雑誌        Am J Hum Genet 86:185-95 (2010)
 DOI:10.1016/j.ajhg.2010.01.011
 PMID:15185169 (DLG3)
 著者        Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL
 タイトル      Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
 雑誌        Am J Hum Genet 75:318-24 (2004)
 DOI:10.1086/422703
 PMID:26290131 (ZDHHC15)
 著者        Moyses-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI
 タイトル      X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 168:669-77 (2015)
 DOI:10.1002/ajmg.b.32355
 PMID:17668385 (BRWD3)
 著者        Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL
 タイトル      Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
 雑誌        Am J Hum Genet 81:367-74 (2007)
 DOI:10.1086/520677
 PMID:19377476 (SYP ZNF711)
 著者        Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR
 タイトル      A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
 雑誌        Nat Genet 41:535-43 (2009)
 DOI:10.1038/ng.367
 PMID:23615299 (NEXMIF)
 著者        Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY
 タイトル      Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
 雑誌        Hum Mol Genet 22:3306-14 (2013)
 DOI:10.1093/hmg/ddt187
 PMID:24607389 (USP9X)
 著者        Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA
 タイトル      Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
 雑誌        Am J Hum Genet 94:470-8 (2014)
 DOI:10.1016/j.ajhg.2014.02.004
 PMID:24812067 (KIF4A)
 著者        Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
 タイトル      Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
 雑誌        J Med Genet 51:487-94 (2014)
 DOI:10.1136/jmedgenet-2013-102182
 PMID:24115387 (MID2)
 著者        Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK
 タイトル      Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
 雑誌        Hum Mutat 35:41-4 (2014)
 DOI:10.1002/humu.22453
 PMID:26235985 (DDX3X)
 著者        Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T
 タイトル      Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
 雑誌        Am J Hum Genet 97:343-52 (2015)
 DOI:10.1016/j.ajhg.2015.07.004
 PMID:24817631 (KLHL15)
 著者        Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Megarbane A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L
 タイトル      Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
 雑誌        Am J Med Genet A 164A:1991-7 (2014)
 DOI:10.1002/ajmg.a.36602
 PMID:28302723 (OGT)
 著者        Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L
 タイトル      Identification and characterization of a missense mutation in the O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
 雑誌        J Biol Chem 292:8948-8963 (2017)
 DOI:10.1074/jbc.M116.771030
 PMID:29374277 (STEEP1)
 著者        Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA
 タイトル      CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
 雑誌        Eur J Hum Genet 26:552-560 (2018)
 DOI:10.1038/s41431-017-0051-9
 PMID:30335141 (SLC9A7)
 著者        Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J
 タイトル      A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
 雑誌        Hum Mol Genet 28:598-614 (2019)
 DOI:10.1093/hmg/ddy371
 PMID:21739600 (AFF2)
 著者        Stettner GM, Shoukier M, Hoger C, Brockmann K, Auber B
 タイトル      Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
 雑誌        Am J Med Genet A 155A:2003-7 (2011)
 DOI:10.1002/ajmg.a.34122","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00480"">H00480</a>",X 連鎖精神遅滞,"X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms (NS-XLMR), depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. The majority of genes that are mutated in NS-XLMR encode proteins are involved in three distinct pathways: Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; Rab GTPases pathway regulating synaptic vesicle cycling; gene expression regulation.",,"(MRX1/78) IQSEC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23096"">23096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12495"">K12495</a>]
 (MRX3) HCFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3054"">3054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14966"">K14966</a>]
 (MRX9/44) FTSJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24140"">24140</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14864"">K14864</a>]
 (MRX12/35) THOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57187"">57187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12879"">K12879</a>]
 (MRX19) RPS6KA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6197"">6197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04373"">K04373</a>]
 (MRX21/34) IL1RAPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11141"">11141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05170"">K05170</a>]
 (MRX29) ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]
 (MRX30/47) PAK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5063"">5063</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05733"">K05733</a>]
 (MRX41) GDI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2664"">2664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17255"">K17255</a>]
 (MRX49/15) CLCN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1183"">1183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]
 (MRX58) TSPAN7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7102"">7102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06571"">K06571</a>]
 (MRX61) RLIM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51132"">51132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16271"">K16271</a>]
 (MRX63) ACSL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2182"">2182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01897"">K01897</a>]
 (MRX72) RAB39B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116442"">116442</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07925"">K07925</a>]
 (MRX90) DLG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1741"">1741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21098"">K21098</a>]
 (MRX91) ZDHHC15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:158866"">158866</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20028"">K20028</a>]
 (MRX93) BRWD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:254065"">254065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11798"">K11798</a>]
 (MRX96) SYP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6855"">6855</a>]
 (MRX97) ZNF711 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7552"">7552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24376"">K24376</a>]
 (MRX98) NEXMIF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340533"">340533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25862"">K25862</a>]
 (MRX99) USP9X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8239"">8239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11840"">K11840</a>]
 (MRX100) KIF4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24137"">24137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10395"">K10395</a>]
 (MRX101) MID2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11043"">11043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10647"">K10647</a>]
 (MRX102) DDX3X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1654"">1654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11594"">K11594</a>]
 (MRX103) KLHL15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80311"">80311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10452"">K10452</a>]
 (MRX104) FRMPD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9758"">9758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23956"">K23956</a>]
 (MRX105) USP27X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:389856"">389856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11366"">K11366</a>]
 (MRX106) OGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8473"">8473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09667"">K09667</a>]
 (MRX107) STEEP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63932"">63932</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24996"">K24996</a>]
 (MRX108) SLC9A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84679"">84679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12041"">K12041</a>]
 (MRX109) AFF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2334"">2334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15194"">K15194</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564490"">C564490</a>
 OMIM: <a href=""https://www.omim.org/entry/309530"">309530</a> <a href=""https://www.omim.org/entry/309541"">309541</a> <a href=""https://www.omim.org/entry/309549"">309549</a> <a href=""https://www.omim.org/entry/300957"">300957</a> <a href=""https://www.omim.org/entry/300844"">300844</a> <a href=""https://www.omim.org/entry/300143"">300143</a> <a href=""https://www.omim.org/entry/300419"">300419</a> <a href=""https://www.omim.org/entry/300558"">300558</a> <a href=""https://www.omim.org/entry/300849"">300849</a> <a href=""https://www.omim.org/entry/300436"">300436</a> <a href=""https://www.omim.org/entry/300114"">300114</a> <a href=""https://www.omim.org/entry/300210"">300210</a> <a href=""https://www.omim.org/entry/300978"">300978</a> <a href=""https://www.omim.org/entry/300387"">300387</a> <a href=""https://www.omim.org/entry/300271"">300271</a> <a href=""https://www.omim.org/entry/300850"">300850</a> <a href=""https://www.omim.org/entry/300577"">300577</a> <a href=""https://www.omim.org/entry/300659"">300659</a> <a href=""https://www.omim.org/entry/300802"">300802</a> <a href=""https://www.omim.org/entry/300803"">300803</a> <a href=""https://www.omim.org/entry/300912"">300912</a> <a href=""https://www.omim.org/entry/300919"">300919</a> <a href=""https://www.omim.org/entry/300923"">300923</a> <a href=""https://www.omim.org/entry/300982"">300982</a> <a href=""https://www.omim.org/entry/300983"">300983</a> <a href=""https://www.omim.org/entry/300984"">300984</a> <a href=""https://www.omim.org/entry/300997"">300997</a> <a href=""https://www.omim.org/entry/301013"">301013</a> <a href=""https://www.omim.org/entry/301024"">301024</a> <a href=""https://www.omim.org/entry/309548"">309548</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15690397"">15690397</a>
 著者        Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
 タイトル      Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
 雑誌        J Cell Physiol 204:8-20 (2005)
 DOI:<a href=""https://doi.org/10.1002/jcp.20296"">10.1002/jcp.20296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16118346"">16118346</a>
 著者        Raymond FL
 タイトル      X linked mental retardation: a clinical guide.
 雑誌        J Med Genet 43:193-200 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.033043"">10.1136/jmg.2005.033043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20473311"">20473311</a> (IQSEC2)
 著者        Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gecz J
 タイトル      Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
 雑誌        Nat Genet 42:486-8 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.588"">10.1038/ng.588</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000143"">23000143</a> (HCFC1)
 著者        Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
 タイトル      A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 91:694-702 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.011"">10.1016/j.ajhg.2012.08.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15162322"">15162322</a> (FTSJ1)
 著者        Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH
 タイトル      Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
 雑誌        Am J Hum Genet 75:305-9 (2004)
 DOI:<a href=""https://doi.org/10.1086/422507"">10.1086/422507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26166480"">26166480</a> (THOC2)
 著者        Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J
 タイトル      THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
 雑誌        Am J Hum Genet 97:302-10 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.021"">10.1016/j.ajhg.2015.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10319851"">10319851</a> (RPS6KA3)
 著者        Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A
 タイトル      A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
 雑誌        Nat Genet 22:13-4 (1999)
 DOI:<a href=""https://doi.org/10.1038/8719"">10.1038/8719</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10471494"">10471494</a> (IL1RAPL1)
 著者        Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J
 タイトル      A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
 雑誌        Nat Genet 23:25-31 (1999)
 DOI:<a href=""https://doi.org/10.1038/12623"">10.1038/12623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11971879"">11971879</a> (ARX)
 著者        Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J
 タイトル      ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
 雑誌        Hum Mol Genet 11:981-91 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.8.981"">10.1093/hmg/11.8.981</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9731525"">9731525</a> (PAK3)
 著者        Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA
 タイトル      PAK3 mutation in nonsyndromic X-linked mental retardation.
 雑誌        Nat Genet 20:25-30 (1998)
 DOI:<a href=""https://doi.org/10.1038/1675"">10.1038/1675</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9620768"">9620768</a> (GDI1)
 著者        D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D
 タイトル      Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
 雑誌        Nat Genet 19:134-9 (1998)
 DOI:<a href=""https://doi.org/10.1038/487"">10.1038/487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25644381"">25644381</a> (CLCN4 <a href=""https://pubmed.ncbi.nlm.nih.gov/FRMPD4"">FRMPD4</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/USP27X)"">USP27X)</a>
 著者        Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
 タイトル      X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
 雑誌        Mol Psychiatry 21:133-48 (2016)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10655063"">10655063</a> (TSPAN7)
 著者        Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J
 タイトル      A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
 雑誌        Nat Genet 24:167-70 (2000)
 DOI:<a href=""https://doi.org/10.1038/72829"">10.1038/72829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25735484"">25735484</a> (RLIM)
 著者        Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T
 タイトル      Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
 雑誌        Eur J Hum Genet 23:1652-6 (2015)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11889465"">11889465</a> (ACSL4)
 著者        Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A
 タイトル      FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
 雑誌        Nat Genet 30:436-40 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng857"">10.1038/ng857</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20159109"">20159109</a> (RAB39B)
 著者        Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P
 タイトル      Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
 雑誌        Am J Hum Genet 86:185-95 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.011"">10.1016/j.ajhg.2010.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15185169"">15185169</a> (DLG3)
 著者        Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL
 タイトル      Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
 雑誌        Am J Hum Genet 75:318-24 (2004)
 DOI:<a href=""https://doi.org/10.1086/422703"">10.1086/422703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26290131"">26290131</a> (ZDHHC15)
 著者        Moyses-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI
 タイトル      X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 168:669-77 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.32355"">10.1002/ajmg.b.32355</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17668385"">17668385</a> (BRWD3)
 著者        Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL
 タイトル      Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
 雑誌        Am J Hum Genet 81:367-74 (2007)
 DOI:<a href=""https://doi.org/10.1086/520677"">10.1086/520677</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19377476"">19377476</a> (SYP <a href=""https://pubmed.ncbi.nlm.nih.gov/ZNF711)"">ZNF711)</a>
 著者        Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR
 タイトル      A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
 雑誌        Nat Genet 41:535-43 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.367"">10.1038/ng.367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23615299"">23615299</a> (NEXMIF)
 著者        Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY
 タイトル      Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
 雑誌        Hum Mol Genet 22:3306-14 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt187"">10.1093/hmg/ddt187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24607389"">24607389</a> (USP9X)
 著者        Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA
 タイトル      Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
 雑誌        Am J Hum Genet 94:470-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.02.004"">10.1016/j.ajhg.2014.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24812067"">24812067</a> (KIF4A)
 著者        Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
 タイトル      Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
 雑誌        J Med Genet 51:487-94 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102182"">10.1136/jmedgenet-2013-102182</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24115387"">24115387</a> (MID2)
 著者        Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK
 タイトル      Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
 雑誌        Hum Mutat 35:41-4 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22453"">10.1002/humu.22453</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26235985"">26235985</a> (DDX3X)
 著者        Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T
 タイトル      Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
 雑誌        Am J Hum Genet 97:343-52 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.004"">10.1016/j.ajhg.2015.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24817631"">24817631</a> (KLHL15)
 著者        Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Megarbane A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L
 タイトル      Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
 雑誌        Am J Med Genet A 164A:1991-7 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36602"">10.1002/ajmg.a.36602</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28302723"">28302723</a> (OGT)
 著者        Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L
 タイトル      Identification and characterization of a missense mutation in the O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
 雑誌        J Biol Chem 292:8948-8963 (2017)
 DOI:<a href=""https://doi.org/10.1074/jbc.M116.771030"">10.1074/jbc.M116.771030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29374277"">29374277</a> (STEEP1)
 著者        Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA
 タイトル      CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
 雑誌        Eur J Hum Genet 26:552-560 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0051-9"">10.1038/s41431-017-0051-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30335141"">30335141</a> (SLC9A7)
 著者        Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J
 タイトル      A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
 雑誌        Hum Mol Genet 28:598-614 (2019)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy371"">10.1093/hmg/ddy371</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21739600"">21739600</a> (AFF2)
 著者        Stettner GM, Shoukier M, Hoger C, Brockmann K, Auber B
 タイトル      Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
 雑誌        Am J Med Genet A 155A:2003-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34122"">10.1002/ajmg.a.34122</a>"
H00481,"錐体杆体ジストロフィおよび錐体ジストロフィー
 下位グループ    錐体杆体ジストロフィー
 錐体ジストロフィー
 網膜錐体ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP), deterioration of the cone cells is more severe than the rod cells. In CORD, there is a progressive loss of cone photoreceptor function followed by gradual loss of rod photoreceptor function and retinal degeneration. In COD, cone function decreases progressively from its onset, though rod function is well preserved until the late stages of the disease.",神経系疾患,,"(CORD2) CRX [HSA:1406] [KO:K09337]
 (CORD3) ABCA4 [HSA:24] [KO:K05644]
 (CORD5) PITPNM3 [HSA:83394] [KO:K24069]
 (CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321]
 (CORD7) RIMS1 [HSA:22999] [KO:K15291]
 (CORD9) ADAM9 [HSA:8754] [KO:K06834]
 (CORD10) SEMA4A [HSA:64218] [KO:K06521]
 (CORD11) RAX2 [HSA:84839] [KO:K09333]
 (CORD12) PROM1 [HSA:8842] [KO:K06532]
 (CORD13) RPGRIP1 [HSA:57096] [KO:K16512]
 (CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328]
 (CORD15) CDHR1 [HSA:92211] [KO:K16501]
 (CORD16) C8orf37 [HSA:157657] [KO:K25226]
 (CORD18) RAB28 [HSA:9364] [KO:K07915]
 (CORD19) TTLL5 [HSA:23093] [KO:K16602]
 (CORD20) POC1B [HSA:282809] [KO:K16482]
 (CORD21) DRAM2 [HSA:128338] [KO:K21956]
 (CORD22) TLCD3B [HSA:83723]
 (CORDX1/COD1) RPGR [HSA:6103] [KO:K19607]
 (CORDX3) CACNA1F [HSA:778] [KO:K04853]
 (COD4) PDE6C [HSA:5146] [KO:K13757]
 (RCD3A) PDE6H [HSA:5149] [KO:K13760]
 (RCD3B) KCNV2 [HSA:169522] [KO:K04935]
 (RCD4) CACNA2D4 [HSA:93589] [KO:K04861]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D000071700
 OMIM: 120970 604116 600977 601777 603649 612775 610283 610381 612657 608194 602093 613660 614500 615374 615860 615973 616502 304020 300476 613093 610024 180020 610356 610478 619531","PMID:17270046 (CRX, ABCA4, RIMS1, ADAM9, RPGRIP1, GUCY2D, GUCA1A, RPGR, CACNA1F)
 著者        Hamel CP
 タイトル      Cone rod dystrophies.
 雑誌        Orphanet J Rare Dis 2:7 (2007)
 DOI:10.1186/1750-1172-2-7
 PMID:17896309 (RPGRIP1, RPGR)
 著者        Adams NA, Awadein A, Toma HS
 タイトル      The retinal ciliopathies.
 雑誌        Ophthalmic Genet 28:113-25 (2007)
 DOI:10.1080/13816810701537424
 PMID:17377520 (PITPNM3)
 著者        Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I
 タイトル      Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
 雑誌        Eur J Hum Genet 15:664-71 (2007)
 DOI:10.1038/sj.ejhg.5201817
 PMID:21552474 (GUCY2D)
 著者        Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C
 タイトル      Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
 雑誌        Mol Vis 17:1103-9 (2011)
 PMID:16199541 (SEMA4A)
 著者        Abid A, Ismail M, Mehdi SQ, Khaliq S
 タイトル      Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
 雑誌        J Med Genet 43:378-81 (2006)
 DOI:10.1136/jmg.2005.035055
 PMID:20087419 (CDHR1)
 著者        Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR
 タイトル      Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
 雑誌        Mol Vis 16:46-52 (2010)
 PMID:22177090 (CFAP418)
 著者        Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, den Hollander AI, Klevering BJ, Cremers FP
 タイトル      Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
 雑誌        Am J Hum Genet 90:102-9 (2012)
 DOI:10.1016/j.ajhg.2011.11.015
 PMID:23746546 (RAB28)
 著者        Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI
 タイトル      Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
 雑誌        Am J Hum Genet 93:110-7 (2013)
 DOI:10.1016/j.ajhg.2013.05.005
 PMID:24791901 (TTLL5)
 著者        Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
 タイトル      Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
 雑誌        Am J Hum Genet 94:760-9 (2014)
 DOI:10.1016/j.ajhg.2014.04.003
 PMID:24945461 (POC1B)
 著者        Durlu YK, Koroglu C, Tolun A
 タイトル      Novel recessive cone-rod dystrophy caused by POC1B mutation.
 雑誌        JAMA Ophthalmol 132:1185-91 (2014)
 DOI:10.1001/jamaophthalmol.2014.1658
 PMID:25983245 (DRAM2)
 著者        El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M
 タイトル      Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
 雑誌        Am J Hum Genet 96:948-54 (2015)
 DOI:10.1016/j.ajhg.2015.04.006
 PMID:33077892 (TLCD3B)
 著者        Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simoes RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R
 タイトル      Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
 雑誌        Genet Med 23:488-497 (2021)
 DOI:10.1038/s41436-020-01003-x
 PMID:33001157 (PDE6C, PDE6H)
 著者        Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA
 タイトル      PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
 雑誌        Invest Ophthalmol Vis Sci 61:1 (2020)
 DOI:10.1167/iovs.61.12.1
 PMID:21882291 (KCNV2)
 著者        Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, Varsanyi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S
 タイトル      Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
 雑誌        Hum Mutat 32:1398-406 (2011)
 DOI:10.1002/humu.21580
 PMID:17033974 (CACNA2D4)
 著者        Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W
 タイトル      Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
 雑誌        Am J Hum Genet 79:973-7 (2006)
 DOI:10.1086/508944","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00481"">H00481</a>","錐体杆体ジストロフィおよび錐体ジストロフィー
 下位グループ    錐体杆体ジストロフィー
 錐体ジストロフィー
 網膜錐体ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP), deterioration of the cone cells is more severe than the rod cells. In CORD, there is a progressive loss of cone photoreceptor function followed by gradual loss of rod photoreceptor function and retinal degeneration. In COD, cone function decreases progressively from its onset, though rod function is well preserved until the late stages of the disease.",,"(CORD2) CRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1406"">1406</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09337"">K09337</a>]
 (CORD3) ABCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24"">24</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05644"">K05644</a>]
 (CORD5) PITPNM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83394"">83394</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24069"">K24069</a>]
 (CORD6/RCD2) GUCY2D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3000"">3000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12321"">K12321</a>]
 (CORD7) RIMS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22999"">22999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15291"">K15291</a>]
 (CORD9) ADAM9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8754"">8754</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06834"">K06834</a>]
 (CORD10) SEMA4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64218"">64218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06521"">K06521</a>]
 (CORD11) RAX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84839"">84839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09333"">K09333</a>]
 (CORD12) PROM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8842"">8842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06532"">K06532</a>]
 (CORD13) RPGRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57096"">57096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16512"">K16512</a>]
 (CORD14/COD3) GUCA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2978"">2978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08328"">K08328</a>]
 (CORD15) CDHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92211"">92211</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16501"">K16501</a>]
 (CORD16) C8orf37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157657"">157657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25226"">K25226</a>]
 (CORD18) RAB28 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9364"">9364</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07915"">K07915</a>]
 (CORD19) TTLL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23093"">23093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16602"">K16602</a>]
 (CORD20) POC1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:282809"">282809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16482"">K16482</a>]
 (CORD21) DRAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128338"">128338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21956"">K21956</a>]
 (CORD22) TLCD3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83723"">83723</a>]
 (CORDX1/COD1) RPGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6103"">6103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19607"">K19607</a>]
 (CORDX3) CACNA1F [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:778"">778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04853"">K04853</a>]
 (COD4) PDE6C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5146"">5146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13757"">K13757</a>]
 (RCD3A) PDE6H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5149"">5149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13760"">K13760</a>]
 (RCD3B) KCNV2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:169522"">169522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04935"">K04935</a>]
 (RCD4) CACNA2D4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93589"">93589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04861"">K04861</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000071700"">D000071700</a>
 OMIM: <a href=""https://www.omim.org/entry/120970"">120970</a> <a href=""https://www.omim.org/entry/604116"">604116</a> <a href=""https://www.omim.org/entry/600977"">600977</a> <a href=""https://www.omim.org/entry/601777"">601777</a> <a href=""https://www.omim.org/entry/603649"">603649</a> <a href=""https://www.omim.org/entry/612775"">612775</a> <a href=""https://www.omim.org/entry/610283"">610283</a> <a href=""https://www.omim.org/entry/610381"">610381</a> <a href=""https://www.omim.org/entry/612657"">612657</a> <a href=""https://www.omim.org/entry/608194"">608194</a> <a href=""https://www.omim.org/entry/602093"">602093</a> <a href=""https://www.omim.org/entry/613660"">613660</a> <a href=""https://www.omim.org/entry/614500"">614500</a> <a href=""https://www.omim.org/entry/615374"">615374</a> <a href=""https://www.omim.org/entry/615860"">615860</a> <a href=""https://www.omim.org/entry/615973"">615973</a> <a href=""https://www.omim.org/entry/616502"">616502</a> <a href=""https://www.omim.org/entry/304020"">304020</a> <a href=""https://www.omim.org/entry/300476"">300476</a> <a href=""https://www.omim.org/entry/613093"">613093</a> <a href=""https://www.omim.org/entry/610024"">610024</a> <a href=""https://www.omim.org/entry/180020"">180020</a> <a href=""https://www.omim.org/entry/610356"">610356</a> <a href=""https://www.omim.org/entry/610478"">610478</a> <a href=""https://www.omim.org/entry/619531"">619531</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17270046"">17270046</a> (CRX, <a href=""https://pubmed.ncbi.nlm.nih.gov/ABCA4,"">ABCA4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RIMS1,"">RIMS1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ADAM9,"">ADAM9,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RPGRIP1,"">RPGRIP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GUCY2D,"">GUCY2D,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GUCA1A,"">GUCA1A,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RPGR,"">RPGR,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CACNA1F)"">CACNA1F)</a>
 著者        Hamel CP
 タイトル      Cone rod dystrophies.
 雑誌        Orphanet J Rare Dis 2:7 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-7"">10.1186/1750-1172-2-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17896309"">17896309</a> (RPGRIP1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RPGR)"">RPGR)</a>
 著者        Adams NA, Awadein A, Toma HS
 タイトル      The retinal ciliopathies.
 雑誌        Ophthalmic Genet 28:113-25 (2007)
 DOI:<a href=""https://doi.org/10.1080/13816810701537424"">10.1080/13816810701537424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17377520"">17377520</a> (PITPNM3)
 著者        Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I
 タイトル      Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
 雑誌        Eur J Hum Genet 15:664-71 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201817"">10.1038/sj.ejhg.5201817</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21552474"">21552474</a> (GUCY2D)
 著者        Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C
 タイトル      Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
 雑誌        Mol Vis 17:1103-9 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16199541"">16199541</a> (SEMA4A)
 著者        Abid A, Ismail M, Mehdi SQ, Khaliq S
 タイトル      Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
 雑誌        J Med Genet 43:378-81 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.035055"">10.1136/jmg.2005.035055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20087419"">20087419</a> (CDHR1)
 著者        Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR
 タイトル      Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
 雑誌        Mol Vis 16:46-52 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22177090"">22177090</a> (CFAP418)
 著者        Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, den Hollander AI, Klevering BJ, Cremers FP
 タイトル      Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
 雑誌        Am J Hum Genet 90:102-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.015"">10.1016/j.ajhg.2011.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23746546"">23746546</a> (RAB28)
 著者        Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI
 タイトル      Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
 雑誌        Am J Hum Genet 93:110-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.005"">10.1016/j.ajhg.2013.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24791901"">24791901</a> (TTLL5)
 著者        Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
 タイトル      Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
 雑誌        Am J Hum Genet 94:760-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.003"">10.1016/j.ajhg.2014.04.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24945461"">24945461</a> (POC1B)
 著者        Durlu YK, Koroglu C, Tolun A
 タイトル      Novel recessive cone-rod dystrophy caused by POC1B mutation.
 雑誌        JAMA Ophthalmol 132:1185-91 (2014)
 DOI:<a href=""https://doi.org/10.1001/jamaophthalmol.2014.1658"">10.1001/jamaophthalmol.2014.1658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25983245"">25983245</a> (DRAM2)
 著者        El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M
 タイトル      Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
 雑誌        Am J Hum Genet 96:948-54 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.006"">10.1016/j.ajhg.2015.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33077892"">33077892</a> (TLCD3B)
 著者        Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simoes RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R
 タイトル      Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
 雑誌        Genet Med 23:488-497 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-01003-x"">10.1038/s41436-020-01003-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33001157"">33001157</a> (PDE6C, <a href=""https://pubmed.ncbi.nlm.nih.gov/PDE6H)"">PDE6H)</a>
 著者        Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA
 タイトル      PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
 雑誌        Invest Ophthalmol Vis Sci 61:1 (2020)
 DOI:<a href=""https://doi.org/10.1167/iovs.61.12.1"">10.1167/iovs.61.12.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21882291"">21882291</a> (KCNV2)
 著者        Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, Varsanyi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S
 タイトル      Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
 雑誌        Hum Mutat 32:1398-406 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21580"">10.1002/humu.21580</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033974"">17033974</a> (CACNA2D4)
 著者        Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W
 タイトル      Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
 雑誌        Am J Hum Genet 79:973-7 (2006)
 DOI:<a href=""https://doi.org/10.1086/508944"">10.1086/508944</a>"
H00482,"短指 (趾) 症
 下位グループ    短指 (趾) 症 A型
 短指 (趾) 症 B型
 短指 (趾) 症 C 型
 短指 (趾) 症 D型
 短指 (趾) 症 E型",,,Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx of the thumb in type D; metacarpals in type E. Type C is characterized by shortening of multiple phalanges and hyperphalangy. BD is caused by improper development of the bones.,先天奇形,,"(BDA1) IHH [HSA:3549] [KO:K11989]
 (BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664]
 (BDA1D, BDA2) BMPR1B [HSA:658] [KO:K13578]
 (BDA2) BMP2 [HSA:650] [KO:K21283]
 (BDB1) ROR2 [HSA:4920] [KO:K05123]
 (BDB2) NOG [HSA:9241] [KO:K04658]
 (BDD, BDE1) HOXD13 [HSA:3239] [KO:K09298]
 (BDE2) PTHLH [HSA:5744] [KO:K22608]
 (HTNB) PDE3A [HSA:5139] [KO:K19021]",,,,,,"ICD-11: LB75
 ICD-10: Q73.8
 MeSH: D059327
 OMIM: 112500 112600 112700 113000 611377 113200 113300 613382 112410 615072 616849","PMID:19790289
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:10.1111/j.1399-0004.2009.01238.x
 PMID:18554391
 著者        Temtamy SA, Aglan MS
 タイトル      Brachydactyly.
 雑誌        Orphanet J Rare Dis 3:15 (2008)
 DOI:10.1186/1750-1172-3-15
 PMID:11455389 (IHH)
 著者        Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L
 タイトル      Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
 雑誌        Nat Genet 28:386-8 (2001)
 DOI:10.1038/ng577
 PMID:20683927 (GDF5, BDA1C)
 著者        Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE
 タイトル      Mutations in GDF5 presenting as semidominant brachydactyly A1.
 雑誌        Hum Mutat 31:1155-62 (2010)
 DOI:10.1002/humu.21338
 PMID:16127465 (GDF5, BDA2)
 著者        Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S
 タイトル      Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
 雑誌        J Clin Invest 115:2373-81 (2005)
 DOI:10.1172/JCI25118
 PMID:9288091 (GDF5, BDC)
 著者        Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML
 タイトル      Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
 雑誌        Nat Genet 17:18-9 (1997)
 DOI:10.1038/ng0997-18
 PMID:25758993 (BMPR1B, BDA1D)
 著者        Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
 タイトル      Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
 雑誌        Eur J Hum Genet 23:1640-5 (2015)
 DOI:10.1038/ejhg.2015.38
 PMID:14523231 (BMPR1B, BDA2)
 著者        Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S
 タイトル      Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
 雑誌        Proc Natl Acad Sci U S A 100:12277-82 (2003)
 DOI:10.1073/pnas.2133476100
 PMID:19327734 (BMP2)
 著者        Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S
 タイトル      Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
 雑誌        Am J Hum Genet 84:483-92 (2009)
 DOI:10.1016/j.ajhg.2009.03.001
 PMID:10700182 (ROR2)
 著者        Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO
 タイトル      Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
 雑誌        Nat Genet 24:275-8 (2000)
 DOI:10.1038/73495
 PMID:17668388 (NOG)
 著者        Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S
 タイトル      A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
 雑誌        Am J Hum Genet 81:388-96 (2007)
 DOI:10.1086/519697
 PMID:12649808 (HOXD13)
 著者        Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO
 タイトル      Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
 雑誌        Am J Hum Genet 72:984-97 (2003)
 DOI:10.1086/374721
 PMID:20170896 (PTHLH)
 著者        Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S
 タイトル      Deletion and point mutations of PTHLH cause brachydactyly type E.
 雑誌        Am J Hum Genet 86:434-9 (2010)
 DOI:10.1016/j.ajhg.2010.01.023
 PMID:25961942 (PDE3A)
 著者        Maass PG, Aydin A, Luft FC, Schachterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Muhl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Ruschendorf F, Hubner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bahring S
 タイトル      PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
 雑誌        Nat Genet 47:647-53 (2015)
 DOI:10.1038/ng.3302","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00482"">H00482</a>","短指 (趾) 症
 下位グループ    短指 (趾) 症 A型
 短指 (趾) 症 B型
 短指 (趾) 症 C 型
 短指 (趾) 症 D型
 短指 (趾) 症 E型",Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx of the thumb in type D; metacarpals in type E. Type C is characterized by shortening of multiple phalanges and hyperphalangy. BD is caused by improper development of the bones.,,"(BDA1) IHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3549"">3549</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11989"">K11989</a>]
 (BDA1C, BDA2, BDC) GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]
 (BDA1D, BDA2) BMPR1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:658"">658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13578"">K13578</a>]
 (BDA2) BMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:650"">650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21283"">K21283</a>]
 (BDB1) ROR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4920"">4920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05123"">K05123</a>]
 (BDB2) NOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9241"">9241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04658"">K04658</a>]
 (BDD, BDE1) HOXD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3239"">3239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (BDE2) PTHLH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5744"">5744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22608"">K22608</a>]
 (HTNB) PDE3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5139"">5139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19021"">K19021</a>]",,,,,,"ICD-11: LB75
 ICD-10: Q73.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D059327"">D059327</a>
 OMIM: <a href=""https://www.omim.org/entry/112500"">112500</a> <a href=""https://www.omim.org/entry/112600"">112600</a> <a href=""https://www.omim.org/entry/112700"">112700</a> <a href=""https://www.omim.org/entry/113000"">113000</a> <a href=""https://www.omim.org/entry/611377"">611377</a> <a href=""https://www.omim.org/entry/113200"">113200</a> <a href=""https://www.omim.org/entry/113300"">113300</a> <a href=""https://www.omim.org/entry/613382"">613382</a> <a href=""https://www.omim.org/entry/112410"">112410</a> <a href=""https://www.omim.org/entry/615072"">615072</a> <a href=""https://www.omim.org/entry/616849"">616849</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19790289"">19790289</a>
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01238.x"">10.1111/j.1399-0004.2009.01238.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18554391"">18554391</a>
 著者        Temtamy SA, Aglan MS
 タイトル      Brachydactyly.
 雑誌        Orphanet J Rare Dis 3:15 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-15"">10.1186/1750-1172-3-15</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11455389"">11455389</a> (IHH)
 著者        Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L
 タイトル      Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
 雑誌        Nat Genet 28:386-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng577"">10.1038/ng577</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20683927"">20683927</a> (GDF5, <a href=""https://pubmed.ncbi.nlm.nih.gov/BDA1C)"">BDA1C)</a>
 著者        Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE
 タイトル      Mutations in GDF5 presenting as semidominant brachydactyly A1.
 雑誌        Hum Mutat 31:1155-62 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21338"">10.1002/humu.21338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16127465"">16127465</a> (GDF5, <a href=""https://pubmed.ncbi.nlm.nih.gov/BDA2)"">BDA2)</a>
 著者        Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S
 タイトル      Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
 雑誌        J Clin Invest 115:2373-81 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI25118"">10.1172/JCI25118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9288091"">9288091</a> (GDF5, <a href=""https://pubmed.ncbi.nlm.nih.gov/BDC)"">BDC)</a>
 著者        Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML
 タイトル      Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
 雑誌        Nat Genet 17:18-9 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0997-18"">10.1038/ng0997-18</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25758993"">25758993</a> (BMPR1B, <a href=""https://pubmed.ncbi.nlm.nih.gov/BDA1D)"">BDA1D)</a>
 著者        Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
 タイトル      Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
 雑誌        Eur J Hum Genet 23:1640-5 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.38"">10.1038/ejhg.2015.38</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14523231"">14523231</a> (BMPR1B, <a href=""https://pubmed.ncbi.nlm.nih.gov/BDA2)"">BDA2)</a>
 著者        Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S
 タイトル      Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
 雑誌        Proc Natl Acad Sci U S A 100:12277-82 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.2133476100"">10.1073/pnas.2133476100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19327734"">19327734</a> (BMP2)
 著者        Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S
 タイトル      Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
 雑誌        Am J Hum Genet 84:483-92 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.001"">10.1016/j.ajhg.2009.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10700182"">10700182</a> (ROR2)
 著者        Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO
 タイトル      Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
 雑誌        Nat Genet 24:275-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/73495"">10.1038/73495</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17668388"">17668388</a> (NOG)
 著者        Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S
 タイトル      A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
 雑誌        Am J Hum Genet 81:388-96 (2007)
 DOI:<a href=""https://doi.org/10.1086/519697"">10.1086/519697</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12649808"">12649808</a> (HOXD13)
 著者        Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO
 タイトル      Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
 雑誌        Am J Hum Genet 72:984-97 (2003)
 DOI:<a href=""https://doi.org/10.1086/374721"">10.1086/374721</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170896"">20170896</a> (PTHLH)
 著者        Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S
 タイトル      Deletion and point mutations of PTHLH cause brachydactyly type E.
 雑誌        Am J Hum Genet 86:434-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.023"">10.1016/j.ajhg.2010.01.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25961942"">25961942</a> (PDE3A)
 著者        Maass PG, Aydin A, Luft FC, Schachterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Muhl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Ruschendorf F, Hubner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bahring S
 タイトル      PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
 雑誌        Nat Genet 47:647-53 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3302"">10.1038/ng.3302</a>"
H00483,天使形指節骨・骨端異形成症,,,Angel shaped phalangoepiphyseal dysplasia (ASPED) is one type of osteochondrodysplasia characterized by angel shaped middle phalanges and generalized epiphyseal dysplasia that disproportionately affects the middle phalanx and distal hip joint.,先天奇形,,GDF5 [HSA:8200] [KO:K04664],,,,,,"ICD-11: LD24.3
 ICD-10: Q78.8
 MeSH: C536361
 OMIM: 105835","PMID:19790289
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:10.1111/j.1399-0004.2009.01238.x
 PMID:15173244
 著者        Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S
 タイトル      Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
 雑誌        J Med Genet 41:e78 (2004)
 DOI:10.1136/jmg.2003.013904
 PMID:15565340
 著者        Castriota-Scanderbeg A, Garaci FG, Beluffi G
 タイトル      Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
 雑誌        Pediatr Radiol 35:535-8 (2005)
 DOI:10.1007/s00247-004-1362-x
 PMID:12580536
 著者        Warashina H, Sakano S, Kitamura S, Yamauchi K, Kito H, Hasegawa Y
 タイトル      Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case report.
 雑誌        Nagoya J Med Sci 65:103-7 (2002)
 PMID:8267010
 著者        Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A
 タイトル      Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
 雑誌        Am J Med Genet 47:765-71 (1993)
 DOI:10.1002/ajmg.1320470534","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00483"">H00483</a>",天使形指節骨・骨端異形成症,Angel shaped phalangoepiphyseal dysplasia (ASPED) is one type of osteochondrodysplasia characterized by angel shaped middle phalanges and generalized epiphyseal dysplasia that disproportionately affects the middle phalanx and distal hip joint.,,"GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536361"">C536361</a>
 OMIM: <a href=""https://www.omim.org/entry/105835"">105835</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19790289"">19790289</a>
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01238.x"">10.1111/j.1399-0004.2009.01238.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15173244"">15173244</a>
 著者        Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S
 タイトル      Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
 雑誌        J Med Genet 41:e78 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.013904"">10.1136/jmg.2003.013904</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15565340"">15565340</a>
 著者        Castriota-Scanderbeg A, Garaci FG, Beluffi G
 タイトル      Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
 雑誌        Pediatr Radiol 35:535-8 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00247-004-1362-x"">10.1007/s00247-004-1362-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12580536"">12580536</a>
 著者        Warashina H, Sakano S, Kitamura S, Yamauchi K, Kito H, Hasegawa Y
 タイトル      Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case report.
 雑誌        Nagoya J Med Sci 65:103-7 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8267010"">8267010</a>
 著者        Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A
 タイトル      Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
 雑誌        Am J Med Genet 47:765-71 (1993)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320470534"">10.1002/ajmg.1320470534</a>"
H00484,多発性骨癒合症症候群,,,"Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.",先天奇形,,"(SYNS1) NOG [HSA:9241] [KO:K04658]
 (SYNS2) GDF5 [HSA:8200] [KO:K04664]
 (SYNS3) FGF9 [HSA:2254] [KO:K04358]
 (SYNS4) GDF6 [HSA:392255] [KO:K20012]",,,,,,"ICD-11: LB90.Y
 ICD-10: Q78.8
 MeSH: C536943 C537380 C567839
 OMIM: 186500 610017 612961 617898","PMID:7428777
 著者        Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H
 タイトル      Multiple synostosis syndrome.
 雑誌        Eur J Pediatr 134:273-5 (1980)
 DOI:10.1007/BF00441486
 PMID:16532400
 著者        Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
 タイトル      GDF5 is a second locus for multiple-synostosis syndrome.
 雑誌        Am J Hum Genet 78:708-12 (2006)
 DOI:10.1086/503204
 PMID:19589401
 著者        Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG
 タイトル      Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
 雑誌        Am J Hum Genet 85:53-63 (2009)
 DOI:10.1016/j.ajhg.2009.06.007
 PMID:26643732
 著者        Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y
 タイトル      A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
 雑誌        J Bone Miner Res 31:882-9 (2016)
 DOI:10.1002/jbmr.2761","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00484"">H00484</a>",多発性骨癒合症症候群,"Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.",,"(SYNS1) NOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9241"">9241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04658"">K04658</a>]
 (SYNS2) GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]
 (SYNS3) FGF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2254"">2254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 (SYNS4) GDF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:392255"">392255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20012"">K20012</a>]",,,,,,"ICD-11: LB90.Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536943"">C536943</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537380"">C537380</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567839"">C567839</a>
 OMIM: <a href=""https://www.omim.org/entry/186500"">186500</a> <a href=""https://www.omim.org/entry/610017"">610017</a> <a href=""https://www.omim.org/entry/612961"">612961</a> <a href=""https://www.omim.org/entry/617898"">617898</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7428777"">7428777</a>
 著者        Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H
 タイトル      Multiple synostosis syndrome.
 雑誌        Eur J Pediatr 134:273-5 (1980)
 DOI:<a href=""https://doi.org/10.1007/BF00441486"">10.1007/BF00441486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16532400"">16532400</a>
 著者        Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D
 タイトル      GDF5 is a second locus for multiple-synostosis syndrome.
 雑誌        Am J Hum Genet 78:708-12 (2006)
 DOI:<a href=""https://doi.org/10.1086/503204"">10.1086/503204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19589401"">19589401</a>
 著者        Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG
 タイトル      Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
 雑誌        Am J Hum Genet 85:53-63 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.007"">10.1016/j.ajhg.2009.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26643732"">26643732</a>
 著者        Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y
 タイトル      A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
 雑誌        J Bone Miner Res 31:882-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/jbmr.2761"">10.1002/jbmr.2761</a>"
H00485,ロビノウ症候群,,,"Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal dominant inheritance have been described. The phenotypic presentation in both types of RS overlaps; however, subtle variances in the severity of craniofacial, musculoskeletal, cardiovascular, and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system.",先天奇形,,"(RRS1) ROR2 [HSA:4920] [KO:K05123]
 (RRS2) NXN [HSA:64359] [KO:K17609]
 (DRS1) WNT5A [HSA:7474] [KO:K00444]
 (DRS2) DVL1 [HSA:1855] [KO:K02353]
 (DRS3) DVL3 [HSA:1857] [KO:K02353]",,,,,,"ICD-11: LD24.A
 ICD-10: Q87.1
 MeSH: C562492 C535863
 OMIM: 268310 180700 616331 616894 618529","PMID:19790289
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:10.1111/j.1399-0004.2009.01238.x
 PMID:12011143 (RRS1)
 著者        Patton MA, Afzal AR
 タイトル      Robinow syndrome.
 雑誌        J Med Genet 39:305-10 (2002)
 DOI:10.1136/jmg.39.5.305
 PMID:20301418 (RRS1)
 著者        Bacino C
 タイトル      ROR2-Related Robinow Syndrome
 雑誌        GeneReviews (1993)
 PMID:21496006
 著者        Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL
 タイトル      Craniofacial and intraoral phenotype of Robinow syndrome forms.
 雑誌        Clin Genet 80:15-24 (2011)
 DOI:10.1111/j.1399-0004.2011.01683.x
 PMID:17256787
 著者        Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA
 タイトル      Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
 雑誌        Am J Med Genet A 143:320-5 (2007)
 DOI:10.1002/ajmg.a.31592
 PMID:19918918 (DRS1)
 著者        Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL
 タイトル      WNT5A mutations in patients with autosomal dominant Robinow syndrome.
 雑誌        Dev Dyn 239:327-37 (2010)
 DOI:10.1002/dvdy.22156
 PMID:25817016 (DRS2)
 著者        White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Lupski JR, Brunner HG, van Bon BW, Carvalho CM
 タイトル      DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
 雑誌        Am J Hum Genet 96:612-22 (2015)
 DOI:10.1016/j.ajhg.2015.02.015
 PMID:26924530 (DRS3)
 著者        White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM
 タイトル      DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
 雑誌        Am J Hum Genet 98:553-61 (2016)
 DOI:10.1016/j.ajhg.2016.01.005
 PMID:29276006 (RRS1/2, DRS1/2/3)
 著者        White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB
 タイトル      WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
 雑誌        Am J Hum Genet 102:27-43 (2018)
 DOI:10.1016/j.ajhg.2017.10.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00485"">H00485</a>",ロビノウ症候群,"Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal dominant inheritance have been described. The phenotypic presentation in both types of RS overlaps; however, subtle variances in the severity of craniofacial, musculoskeletal, cardiovascular, and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system.",,"(RRS1) ROR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4920"">4920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05123"">K05123</a>]
 (RRS2) NXN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64359"">64359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17609"">K17609</a>]
 (DRS1) WNT5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7474"">7474</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00444"">K00444</a>]
 (DRS2) DVL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1855"">1855</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02353"">K02353</a>]
 (DRS3) DVL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1857"">1857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02353"">K02353</a>]",,,,,,"ICD-11: LD24.A
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562492"">C562492</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535863"">C535863</a>
 OMIM: <a href=""https://www.omim.org/entry/268310"">268310</a> <a href=""https://www.omim.org/entry/180700"">180700</a> <a href=""https://www.omim.org/entry/616331"">616331</a> <a href=""https://www.omim.org/entry/616894"">616894</a> <a href=""https://www.omim.org/entry/618529"">618529</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19790289"">19790289</a>
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01238.x"">10.1111/j.1399-0004.2009.01238.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12011143"">12011143</a> (RRS1)
 著者        Patton MA, Afzal AR
 タイトル      Robinow syndrome.
 雑誌        J Med Genet 39:305-10 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.5.305"">10.1136/jmg.39.5.305</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301418"">20301418</a> (RRS1)
 著者        Bacino C
 タイトル      ROR2-Related Robinow Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496006"">21496006</a>
 著者        Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL
 タイトル      Craniofacial and intraoral phenotype of Robinow syndrome forms.
 雑誌        Clin Genet 80:15-24 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01683.x"">10.1111/j.1399-0004.2011.01683.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17256787"">17256787</a>
 著者        Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA
 タイトル      Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
 雑誌        Am J Med Genet A 143:320-5 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31592"">10.1002/ajmg.a.31592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19918918"">19918918</a> (DRS1)
 著者        Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL
 タイトル      WNT5A mutations in patients with autosomal dominant Robinow syndrome.
 雑誌        Dev Dyn 239:327-37 (2010)
 DOI:<a href=""https://doi.org/10.1002/dvdy.22156"">10.1002/dvdy.22156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25817016"">25817016</a> (DRS2)
 著者        White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Lupski JR, Brunner HG, van Bon BW, Carvalho CM
 タイトル      DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
 雑誌        Am J Hum Genet 96:612-22 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.015"">10.1016/j.ajhg.2015.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26924530"">26924530</a> (DRS3)
 著者        White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM
 タイトル      DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
 雑誌        Am J Hum Genet 98:553-61 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.01.005"">10.1016/j.ajhg.2016.01.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29276006"">29276006</a> (RRS1/2, <a href=""https://pubmed.ncbi.nlm.nih.gov/DRS1/2/3)"">DRS1/2/3)</a>
 著者        White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB
 タイトル      WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
 雑誌        Am J Hum Genet 102:27-43 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.10.002"">10.1016/j.ajhg.2017.10.002</a>"
H00486,硬結性骨化症,,,"Sclerosteosis is rare sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion, increased intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This disease is due to loss-of-function mutations in the SOST gene, a protein that binds to LRP5/6 and antagonizes Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found in patients with sclerosteosis.",先天奇形,,"SOST [HSA:50964] [KO:K16834]
 LRP4 [HSA:4038] [KO:K20051]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: C537525
 OMIM: 269500 614305","PMID:20948575
 著者        Mason JJ, Williams BO
 タイトル      SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease.
 雑誌        J Osteoporos 2010:460120 (2010)
 DOI:10.4061/2010/460120
 PMID:20473488
 著者        Moester MJ, Papapoulos SE, Lowik CW, van Bezooijen RL
 タイトル      Sclerostin: current knowledge and future perspectives.
 雑誌        Calcif Tissue Int 87:99-107 (2010)
 DOI:10.1007/s00223-010-9372-1
 PMID:26751728
 著者        Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E
 タイトル      A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
 雑誌        J Bone Miner Res 31:874-81 (2016)
 DOI:10.1002/jbmr.2782","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00486"">H00486</a>",硬結性骨化症,"Sclerosteosis is rare sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion, increased intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This disease is due to loss-of-function mutations in the SOST gene, a protein that binds to LRP5/6 and antagonizes Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found in patients with sclerosteosis.",,"SOST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50964"">50964</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16834"">K16834</a>]
 LRP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4038"">4038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20051"">K20051</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537525"">C537525</a>
 OMIM: <a href=""https://www.omim.org/entry/269500"">269500</a> <a href=""https://www.omim.org/entry/614305"">614305</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20948575"">20948575</a>
 著者        Mason JJ, Williams BO
 タイトル      SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease.
 雑誌        J Osteoporos 2010:460120 (2010)
 DOI:<a href=""https://doi.org/10.4061/2010/460120"">10.4061/2010/460120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20473488"">20473488</a>
 著者        Moester MJ, Papapoulos SE, Lowik CW, van Bezooijen RL
 タイトル      Sclerostin: current knowledge and future perspectives.
 雑誌        Calcif Tissue Int 87:99-107 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00223-010-9372-1"">10.1007/s00223-010-9372-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26751728"">26751728</a>
 著者        Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E
 タイトル      A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
 雑誌        J Bone Miner Res 31:874-81 (2016)
 DOI:<a href=""https://doi.org/10.1002/jbmr.2782"">10.1002/jbmr.2782</a>"
H00487,毛髪・歯・骨症候群,,,"Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone.",先天奇形,,DLX3 [HSA:1747] [KO:K09315],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C536549
 OMIM: 190320","PMID:15454107
 著者        Haldeman RJ, Cooper LF, Hart TC, Phillips C, Boyd C, Lester GE, Wright JT
 タイトル      Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome.
 雑誌        Bone 35:988-97 (2004)
 DOI:10.1016/j.bone.2004.06.003
 PMID:18203197
 著者        Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU
 タイトル      DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.
 雑誌        Am J Med Genet A 146:343-9 (2008)
 DOI:10.1002/ajmg.a.32132
 PMID:18492670
 著者        Duverger O, Lee D, Hassan MQ, Chen SX, Jaisser F, Lian JB, Morasso MI
 タイトル      Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome.
 雑誌        J Biol Chem 283:20198-208 (2008)
 DOI:10.1074/jbc.M709562200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00487"">H00487</a>",毛髪・歯・骨症候群,"Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone.",,"DLX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1747"">1747</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09315"">K09315</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536549"">C536549</a>
 OMIM: <a href=""https://www.omim.org/entry/190320"">190320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15454107"">15454107</a>
 著者        Haldeman RJ, Cooper LF, Hart TC, Phillips C, Boyd C, Lester GE, Wright JT
 タイトル      Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome.
 雑誌        Bone 35:988-97 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2004.06.003"">10.1016/j.bone.2004.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203197"">18203197</a>
 著者        Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU
 タイトル      DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.
 雑誌        Am J Med Genet A 146:343-9 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32132"">10.1002/ajmg.a.32132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18492670"">18492670</a>
 著者        Duverger O, Lee D, Hassan MQ, Chen SX, Jaisser F, Lian JB, Morasso MI
 タイトル      Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome.
 雑誌        J Biol Chem 283:20198-208 (2008)
 DOI:<a href=""https://doi.org/10.1074/jbc.M709562200"">10.1074/jbc.M709562200</a>"
H00488,"MCAD 欠損症;
 中鎖アシル CoA デヒドロゲナーゼ欠損症;
 ACADM 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.",先天代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,ACADM [HSA:34] [KO:K00249],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C536038
 OMIM: 201450","PMID:9158144
 著者        Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N
 タイトル      The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
 雑誌        Hum Mol Genet 6:695-707 (1997)
 DOI:10.1093/hmg/6.5.695
 PMID:23574375
 著者        Leal J, Ades AE, Wordsworth S, Dezateux C
 タイトル      Regional differences in the frequency of the c.985A&gt;G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
 雑誌        Clin Genet 85:253-9 (2014)
 DOI:10.1111/cge.12157
 PMID:15877203 (drug)
 著者        Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA
 タイトル      L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
 雑誌        J Inherit Metab Dis 28:141-52 (2005)
 DOI:10.1007/s10545-005-5262-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00488"">H00488</a>","MCAD 欠損症;
 中鎖アシル CoA デヒドロゲナーゼ欠損症;
 ACADM 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","ACADM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:34"">34</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00249"">K00249</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536038"">C536038</a>
 OMIM: <a href=""https://www.omim.org/entry/201450"">201450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9158144"">9158144</a>
 著者        Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N
 タイトル      The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
 雑誌        Hum Mol Genet 6:695-707 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.5.695"">10.1093/hmg/6.5.695</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23574375"">23574375</a>
 著者        Leal J, Ades AE, Wordsworth S, Dezateux C
 タイトル      Regional differences in the frequency of the c.985A&gt;G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
 雑誌        Clin Genet 85:253-9 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12157"">10.1111/cge.12157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15877203"">15877203</a> (drug)
 著者        Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA
 タイトル      L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
 雑誌        J Inherit Metab Dis 28:141-52 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10545-005-5262-5"">10.1007/s10545-005-5262-5</a>"
H00489,"LCHAD 欠損症;
 長鎖 3-ヒドロキシアシル CoA 脱水素酵素欠損症
 上位グループ    ミトコンドリア三頭酵素欠損症 [DS:H01352]
 ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.",先天性代謝異常症,nt06020  beta-Oxidation in mitochondria,HADHA [HSA:3030] [KO:K07515],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C566945
 OMIM: 609016","PMID:20583174
 著者        Baskin B, Geraghty M, Ray PN
 タイトル      Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
 雑誌        Am J Med Genet A 152A:1808-11 (2010)
 DOI:10.1002/ajmg.a.33462
 PMID:10352164
 著者        Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW
 タイトル      A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
 雑誌        N Engl J Med 340:1723-31 (1999)
 DOI:10.1056/NEJM199906033402204","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00489"">H00489</a>","LCHAD 欠損症;
 長鎖 3-ヒドロキシアシル CoA 脱水素酵素欠損症
 上位グループ    ミトコンドリア三頭酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01352"">H01352</a>]
 ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","HADHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3030"">3030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07515"">K07515</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566945"">C566945</a>
 OMIM: <a href=""https://www.omim.org/entry/609016"">609016</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20583174"">20583174</a>
 著者        Baskin B, Geraghty M, Ray PN
 タイトル      Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
 雑誌        Am J Med Genet A 152A:1808-11 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33462"">10.1002/ajmg.a.33462</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10352164"">10352164</a>
 著者        Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW
 タイトル      A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
 雑誌        N Engl J Med 340:1723-31 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199906033402204"">10.1056/NEJM199906033402204</a>"
H00490,"貧血を伴う骨幹異形成;
 Ghosal hematodiaphyseal dysplasia",,,"Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported.",先天奇形,,TBXAS1 [HSA:6916] [KO:K01832],,,,,,"ICD-11: LD24.1Y
 MeSH: C565551
 OMIM: 231095","PMID:18264100
 著者        Genevieve D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V
 タイトル      Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
 雑誌        Nat Genet 40:284-6 (2008)
 DOI:10.1038/ng.2007.66
 PMID:20672367
 著者        Mazaheri P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM
 タイトル      Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.
 雑誌        Pediatr Blood Cancer 55:1187-90 (2010)
 DOI:10.1002/pbc.22662
 PMID:17401271
 著者        Mondal RK, Karmakar B, Chandra PK, Mukherjee K
 タイトル      Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.
 雑誌        Indian J Pediatr 74:291-3 (2007)
 DOI:10.1007/s12098-007-0047-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00490"">H00490</a>","貧血を伴う骨幹異形成;
 Ghosal hematodiaphyseal dysplasia","Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported.",,"TBXAS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6916"">6916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01832"">K01832</a>]",,,,,,"ICD-11: LD24.1Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565551"">C565551</a>
 OMIM: <a href=""https://www.omim.org/entry/231095"">231095</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18264100"">18264100</a>
 著者        Genevieve D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V
 タイトル      Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
 雑誌        Nat Genet 40:284-6 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.66"">10.1038/ng.2007.66</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20672367"">20672367</a>
 著者        Mazaheri P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM
 タイトル      Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.
 雑誌        Pediatr Blood Cancer 55:1187-90 (2010)
 DOI:<a href=""https://doi.org/10.1002/pbc.22662"">10.1002/pbc.22662</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17401271"">17401271</a>
 著者        Mondal RK, Karmakar B, Chandra PK, Mukherjee K
 タイトル      Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.
 雑誌        Indian J Pediatr 74:291-3 (2007)
 DOI:<a href=""https://doi.org/10.1007/s12098-007-0047-5"">10.1007/s12098-007-0047-5</a>"
H00491,頭蓋骨幹異形成症,,,"Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones.",先天奇形,,ANKH [HSA:56172] [KO:K22734],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: C537519
 OMIM: 123000","PMID:20301634
 著者        Reichenberger E, Chen IP
 タイトル      Craniometaphyseal Dysplasia, Autosomal Dominant
 雑誌        GeneReviews (1993)
 PMID:20186813
 著者        Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD
 タイトル      Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
 雑誌        Am J Med Genet A 152A:770-6 (2010)
 DOI:10.1002/ajmg.a.33317","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00491"">H00491</a>",頭蓋骨幹異形成症,"Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones.",,"ANKH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56172"">56172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22734"">K22734</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537519"">C537519</a>
 OMIM: <a href=""https://www.omim.org/entry/123000"">123000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301634"">20301634</a>
 著者        Reichenberger E, Chen IP
 タイトル      Craniometaphyseal Dysplasia, Autosomal Dominant
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20186813"">20186813</a>
 著者        Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD
 タイトル      Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
 雑誌        Am J Med Genet A 152A:770-6 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33317"">10.1002/ajmg.a.33317</a>"
H00492,"SHOX-関連低身長症
 下位グループ    特発性低身長
 Langer 中間肢節短縮型形成異常
 Leri-Weill 軟骨骨異形成症",,,"Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes.",先天奇形,,SHOX [HSA:6473] [KO:K09331],,,,,,"ICD-11: LD24.A
 ICD-10: Q87.1
 MeSH: C564479 C537267 C537119
 OMIM: 300582 249700 127300","PMID:16650979
 著者        Blaschke RJ, Rappold G
 タイトル      The pseudoautosomal regions, SHOX and disease.
 雑誌        Curr Opin Genet Dev 16:233-9 (2006)
 DOI:10.1016/j.gde.2006.04.004
 PMID:16807223
 著者        Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E
 タイトル      Short stature and dysmorphology associated with defects in the SHOX gene.
 雑誌        Hormones (Athens) 5:107-18 (2006)
 DOI:10.14310/horm.2002.11174
 PMID:11408757
 著者        Blaschke RJ, Rappold GA
 タイトル      SHOX in short stature syndromes.
 雑誌        Horm Res 55 Suppl 1:21-3 (2001)
 DOI:10.1159/000063458","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00492"">H00492</a>","SHOX-関連低身長症
 下位グループ    特発性低身長
 Langer 中間肢節短縮型形成異常
 Leri-Weill 軟骨骨異形成症","Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes.",,"SHOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6473"">6473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09331"">K09331</a>]",,,,,,"ICD-11: LD24.A
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564479"">C564479</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537267"">C537267</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537119"">C537119</a>
 OMIM: <a href=""https://www.omim.org/entry/300582"">300582</a> <a href=""https://www.omim.org/entry/249700"">249700</a> <a href=""https://www.omim.org/entry/127300"">127300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16650979"">16650979</a>
 著者        Blaschke RJ, Rappold G
 タイトル      The pseudoautosomal regions, SHOX and disease.
 雑誌        Curr Opin Genet Dev 16:233-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.gde.2006.04.004"">10.1016/j.gde.2006.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16807223"">16807223</a>
 著者        Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E
 タイトル      Short stature and dysmorphology associated with defects in the SHOX gene.
 雑誌        Hormones (Athens) 5:107-18 (2006)
 DOI:<a href=""https://doi.org/10.14310/horm.2002.11174"">10.14310/horm.2002.11174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11408757"">11408757</a>
 著者        Blaschke RJ, Rappold GA
 タイトル      SHOX in short stature syndromes.
 雑誌        Horm Res 55 Suppl 1:21-3 (2001)
 DOI:<a href=""https://doi.org/10.1159/000063458"">10.1159/000063458</a>"
H00493,"ヘパラン硫酸プロテオグリカン異常
 下位グループ    分節異常骨異形成症 Silverman-Handmaker 型 [DS:H02155]
 シュワルツ・ヤンペル症候群 [DS:H01777]
 シンプソン・ゴラビ・ベーメル症候群 [DS:H01215]
 肩骨異形成症 1型 [DS:H02154]
 多発性外骨腫 [DS:H00122]",,,"Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported so far.",先天奇形,,"(Silverman-Handmaker, Schwartz-Jampel) HSPG2 [HSA:3339] [KO:K06255]
 (Simpson-Golabi-Behmel) GPC3 [HSA:2719] [KO:K08109]
 (Omodysplasia 1) GPC6 [HSA:10082] [KO:K08112]
 (Multiple exostoses) EXT1 [HSA:2131] [KO:K02366]
 (Multiple exostoses) EXT2 [HSA:2132] [KO:K02367]",,,,,,"ICD-11: LD24.20 LD2Z
 ICD-10: Q87.1 G71.1 Q87.8 Q78.6
 MeSH: C537998 C537340 C537746 D005097
 OMIM: 224410 255800 312870 258315 133700 133701","PMID:12042245
 著者        Schwartz NB, Domowicz M
 タイトル      Chondrodysplasias due to proteoglycan defects.
 雑誌        Glycobiology 12:57R-68R (2002)
 DOI:10.1093/glycob/12.4.57R
 PMID:12975604
 著者        Hassell J, Yamada Y, Arikawa-Hirasawa E
 タイトル      Role of perlecan in skeletal development and diseases.
 雑誌        Glycoconj J 19:263-7 (2002)
 DOI:10.1023/A:1025340215261
 PMID:15831077
 著者        Farach-Carson MC, Hecht JT, Carson DD
 タイトル      Heparan sulfate proteoglycans: key players in cartilage biology.
 雑誌        Crit Rev Eukaryot Gene Expr 15:29-48 (2005)
 DOI:10.1615/critreveukaryotgeneexpr.v15.i1.30
 PMID:14566439
 著者        Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW
 タイトル      Recessive omodysplasia: five new cases and review of the literature.
 雑誌        Pediatr Radiol 34:75-82 (2004)
 DOI:10.1007/s00247-003-1064-9
 PMID:19481194
 著者        Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
 タイトル      Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
 雑誌        Am J Hum Genet 84:760-70 (2009)
 DOI:10.1016/j.ajhg.2009.05.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>","ヘパラン硫酸プロテオグリカン異常
 下位グループ    分節異常骨異形成症 Silverman-Handmaker 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02155"">H02155</a>]
 シュワルツ・ヤンペル症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01777"">H01777</a>]
 シンプソン・ゴラビ・ベーメル症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01215"">H01215</a>]
 肩骨異形成症 1型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02154"">H02154</a>]
 多発性外骨腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00122"">H00122</a>]","Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported so far.",,"(Silverman-Handmaker, Schwartz-Jampel) HSPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3339"">3339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06255"">K06255</a>]
 (Simpson-Golabi-Behmel) GPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2719"">2719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08109"">K08109</a>]
 (Omodysplasia 1) GPC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10082"">10082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08112"">K08112</a>]
 (Multiple exostoses) EXT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2131"">2131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02366"">K02366</a>]
 (Multiple exostoses) EXT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2132"">2132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02367"">K02367</a>]",,,,,,"ICD-11: LD24.20 LD2Z
 ICD-10: Q87.1 G71.1 Q87.8 Q78.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537998"">C537998</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537340"">C537340</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537746"">C537746</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005097"">D005097</a>
 OMIM: <a href=""https://www.omim.org/entry/224410"">224410</a> <a href=""https://www.omim.org/entry/255800"">255800</a> <a href=""https://www.omim.org/entry/312870"">312870</a> <a href=""https://www.omim.org/entry/258315"">258315</a> <a href=""https://www.omim.org/entry/133700"">133700</a> <a href=""https://www.omim.org/entry/133701"">133701</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12042245"">12042245</a>
 著者        Schwartz NB, Domowicz M
 タイトル      Chondrodysplasias due to proteoglycan defects.
 雑誌        Glycobiology 12:57R-68R (2002)
 DOI:<a href=""https://doi.org/10.1093/glycob/12.4.57R"">10.1093/glycob/12.4.57R</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12975604"">12975604</a>
 著者        Hassell J, Yamada Y, Arikawa-Hirasawa E
 タイトル      Role of perlecan in skeletal development and diseases.
 雑誌        Glycoconj J 19:263-7 (2002)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1025340215261"">1025340215261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15831077"">15831077</a>
 著者        Farach-Carson MC, Hecht JT, Carson DD
 タイトル      Heparan sulfate proteoglycans: key players in cartilage biology.
 雑誌        Crit Rev Eukaryot Gene Expr 15:29-48 (2005)
 DOI:<a href=""https://doi.org/10.1615/critreveukaryotgeneexpr.v15.i1.30"">10.1615/critreveukaryotgeneexpr.v15.i1.30</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14566439"">14566439</a>
 著者        Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW
 タイトル      Recessive omodysplasia: five new cases and review of the literature.
 雑誌        Pediatr Radiol 34:75-82 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00247-003-1064-9"">10.1007/s00247-003-1064-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19481194"">19481194</a>
 著者        Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
 タイトル      Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
 雑誌        Am J Hum Genet 84:760-70 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.05.002"">10.1016/j.ajhg.2009.05.002</a>"
H00494,"Desbuquois 症候群;
 Desbuquois 異形成",,,"Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified.",先天奇形,,"(DBQD1) CANT1 [HSA:124583] [KO:K12304]
 (DBQD2) XYLT1 [HSA:64131] [KO:K00771]",,,,,,"ICD-11: LD24.E
 ICD-10: Q78.8
 MeSH: C535943
 OMIM: 251450 615777","PMID:7977470
 著者        Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
 タイトル      Desbuquois syndrome: clinical, radiographic, and morphologic characterization.
 雑誌        Am J Med Genet 52:9-18 (1994)
 DOI:10.1002/ajmg.1320520104
 PMID:20425819
 著者        Faden M, Al-Zahrani F, Arafah D, Alkuraya FS
 タイトル      Mutation of CANT1 causes Desbuquois dysplasia.
 雑誌        Am J Med Genet A 152A:1157-60 (2010)
 DOI:10.1002/ajmg.a.33404
 PMID:19853239
 著者        Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V
 タイトル      Identification of CANT1 mutations in Desbuquois dysplasia.
 雑誌        Am J Hum Genet 85:706-10 (2009)
 DOI:10.1016/j.ajhg.2009.10.001
 PMID:24581741
 著者        Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
 タイトル      XYLT1 mutations in Desbuquois dysplasia type 2.
 雑誌        Am J Hum Genet 94:405-14 (2014)
 DOI:10.1016/j.ajhg.2014.01.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00494"">H00494</a>","Desbuquois 症候群;
 Desbuquois 異形成","Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified.",,"(DBQD1) CANT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124583"">124583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12304"">K12304</a>]
 (DBQD2) XYLT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64131"">64131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00771"">K00771</a>]",,,,,,"ICD-11: LD24.E
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535943"">C535943</a>
 OMIM: <a href=""https://www.omim.org/entry/251450"">251450</a> <a href=""https://www.omim.org/entry/615777"">615777</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7977470"">7977470</a>
 著者        Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
 タイトル      Desbuquois syndrome: clinical, radiographic, and morphologic characterization.
 雑誌        Am J Med Genet 52:9-18 (1994)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320520104"">10.1002/ajmg.1320520104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425819"">20425819</a>
 著者        Faden M, Al-Zahrani F, Arafah D, Alkuraya FS
 タイトル      Mutation of CANT1 causes Desbuquois dysplasia.
 雑誌        Am J Med Genet A 152A:1157-60 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33404"">10.1002/ajmg.a.33404</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19853239"">19853239</a>
 著者        Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V
 タイトル      Identification of CANT1 mutations in Desbuquois dysplasia.
 雑誌        Am J Hum Genet 85:706-10 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.10.001"">10.1016/j.ajhg.2009.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24581741"">24581741</a>
 著者        Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
 タイトル      XYLT1 mutations in Desbuquois dysplasia type 2.
 雑誌        Am J Hum Genet 94:405-14 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.01.020"">10.1016/j.ajhg.2014.01.020</a>"
H00495,Eiken dysplasia,,,Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene.,先天奇形,,PTHR1 [HSA:5745] [KO:K04585],,,,,,"ICD-11: LD24.6
 MeSH: C564010
 OMIM: 600002","PMID:15525660
 著者        Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C
 タイトル      Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
 雑誌        Hum Mol Genet 14:1-5 (2005)
 DOI:10.1093/hmg/ddi001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00495"">H00495</a>",Eiken dysplasia,Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene.,,"PTHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5745"">5745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04585"">K04585</a>]",,,,,,"ICD-11: LD24.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564010"">C564010</a>
 OMIM: <a href=""https://www.omim.org/entry/600002"">600002</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15525660"">15525660</a>
 著者        Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C
 タイトル      Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
 雑誌        Hum Mol Genet 14:1-5 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi001"">10.1093/hmg/ddi001</a>"
H00496,CHILD 症候群,,,"Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.",先天奇形,,NSDHL [HSA:50814] [KO:K07748],,,,,,"ICD-11: LD24.04
 ICD-10: Q87.8
 MeSH: C562515
 OMIM: 308050","PMID:16088165
 著者        Kim CA, Konig A, Bertola DR, Albano LM, Gattas GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH
 タイトル      CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
 雑誌        Dermatology 211:155-8 (2005)
 DOI:10.1159/000086448
 PMID:10710235
 著者        Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH
 タイトル      Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
 雑誌        Am J Med Genet 90:339-46 (2000)
 DOI:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00496"">H00496</a>",CHILD 症候群,"Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.",,"NSDHL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50814"">50814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07748"">K07748</a>]",,,,,,"ICD-11: LD24.04
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562515"">C562515</a>
 OMIM: <a href=""https://www.omim.org/entry/308050"">308050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16088165"">16088165</a>
 著者        Kim CA, Konig A, Bertola DR, Albano LM, Gattas GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH
 タイトル      CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
 雑誌        Dermatology 211:155-8 (2005)
 DOI:<a href=""https://doi.org/10.1159/000086448"">10.1159/000086448</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10710235"">10710235</a>
 著者        Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH
 タイトル      Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
 雑誌        Am J Med Genet 90:339-46 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(20000214)90:"">10.1002/(SICI)1096-8628(20000214)90:</a><a href=""https://doi.org/4<339:"">4<339:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG15>3.0.CO;2-5"">AID-AJMG15>3.0.CO;2-5</a>"
H00497,ケルビム症,,,"Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.",消化器系疾患,,SH3BP2 [HSA:6452] [KO:K07984],,,,,,"ICD-11: LD24.22
 ICD-10: K10.8
 MeSH: D002636
 OMIM: 118400","PMID:20301316
 著者        Baskin B, Bowdin S, Ray PN
 タイトル      Cherubism
 雑誌        GeneReviews (1993)
 PMID:19165006
 著者        Mortellaro C, Bello L, Lucchina AG, Pucci A
 タイトル      Diagnosis and treatment of familial cherubism characterized by early onset and rapid development.
 雑誌        J Craniofac Surg 20:116-20 (2009)
 DOI:10.1097/SCS.0b013e318190e23c
 PMID:21794028
 著者        Ogi K, Nakashima K, Chihara K, Takeuchi K, Horiguchi T, Fujieda S, Sada K
 タイトル      Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.
 雑誌        Genes Cells 16:951-60 (2011)
 DOI:10.1111/j.1365-2443.2011.01539.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00497"">H00497</a>",ケルビム症,"Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.",,"SH3BP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6452"">6452</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07984"">K07984</a>]",,,,,,"ICD-11: LD24.22
 ICD-10: K10.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002636"">D002636</a>
 OMIM: <a href=""https://www.omim.org/entry/118400"">118400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301316"">20301316</a>
 著者        Baskin B, Bowdin S, Ray PN
 タイトル      Cherubism
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19165006"">19165006</a>
 著者        Mortellaro C, Bello L, Lucchina AG, Pucci A
 タイトル      Diagnosis and treatment of familial cherubism characterized by early onset and rapid development.
 雑誌        J Craniofac Surg 20:116-20 (2009)
 DOI:<a href=""https://doi.org/10.1097/SCS.0b013e318190e23c"">10.1097/SCS.0b013e318190e23c</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21794028"">21794028</a>
 著者        Ogi K, Nakashima K, Chihara K, Takeuchi K, Horiguchi T, Fujieda S, Sada K
 タイトル      Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.
 雑誌        Genes Cells 16:951-60 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2443.2011.01539.x"">10.1111/j.1365-2443.2011.01539.x</a>"
H00498,顎骨骨幹異形成症,,,"Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones. Missense mutations of GDD1, which shows homology to TMEM16E, were identified.",筋骨格疾患,,GDD1/TMEM16E [HSA:203859] [KO:K19480],,,,,,"ICD-11: LD24.2Y
 MeSH: C536039
 OMIM: 166260","PMID:11547842
 著者        Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P
 タイトル      Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.
 雑誌        J Bone Miner Res 16:1710-8 (2001)
 DOI:10.1359/jbmr.2001.16.9.1710
 PMID:15124103
 著者        Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M
 タイトル      The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
 雑誌        Am J Hum Genet 74:1255-61 (2004)
 DOI:10.1086/421527
 PMID:17418107
 著者        Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M
 タイトル      Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
 雑誌        Biochem Biophys Res Commun 357:126-32 (2007)
 DOI:10.1016/j.bbrc.2007.03.108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00498"">H00498</a>",顎骨骨幹異形成症,"Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones. Missense mutations of GDD1, which shows homology to TMEM16E, were identified.",,"GDD1/TMEM16E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203859"">203859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19480"">K19480</a>]",,,,,,"ICD-11: LD24.2Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536039"">C536039</a>
 OMIM: <a href=""https://www.omim.org/entry/166260"">166260</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11547842"">11547842</a>
 著者        Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P
 タイトル      Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.
 雑誌        J Bone Miner Res 16:1710-8 (2001)
 DOI:<a href=""https://doi.org/10.1359/jbmr.2001.16.9.1710"">10.1359/jbmr.2001.16.9.1710</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15124103"">15124103</a>
 著者        Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M
 タイトル      The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
 雑誌        Am J Hum Genet 74:1255-61 (2004)
 DOI:<a href=""https://doi.org/10.1086/421527"">10.1086/421527</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17418107"">17418107</a>
 著者        Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M
 タイトル      Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
 雑誌        Biochem Biophys Res Commun 357:126-32 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2007.03.108"">10.1016/j.bbrc.2007.03.108</a>"
H00499,椎骨-手根骨-足根骨癒合症候群,,,Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.,先天奇形,,FLNB (nonsense mutation) [HSA:2317] [KO:K04437],,,,,,"ICD-11: LD24.3
 ICD-10: Q76.4
 MeSH: C535780
 OMIM: 272460","PMID:18386804
 著者        Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M
 タイトル      Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
 雑誌        Am J Med Genet A 146A:1230-3 (2008)
 DOI:10.1002/ajmg.a.32303
 PMID:9557886
 著者        Coelho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N
 タイトル      Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
 雑誌        Am J Med Genet 77:12-5 (1998)
 DOI:10.1002/(SICI)1096-8628(19980428)77:1<12::AID-AJMG3>3.0.CO;2-N","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00499"">H00499</a>",椎骨-手根骨-足根骨癒合症候群,Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.,,"FLNB (nonsense mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2317"">2317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q76.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535780"">C535780</a>
 OMIM: <a href=""https://www.omim.org/entry/272460"">272460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18386804"">18386804</a>
 著者        Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M
 タイトル      Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
 雑誌        Am J Med Genet A 146A:1230-3 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32303"">10.1002/ajmg.a.32303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9557886"">9557886</a>
 著者        Coelho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N
 タイトル      Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
 雑誌        Am J Med Genet 77:12-5 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980428)77:"">10.1002/(SICI)1096-8628(19980428)77:</a><a href=""https://doi.org/1<12:"">1<12:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG3>3.0.CO;2-N"">AID-AJMG3>3.0.CO;2-N</a>"
H00500,Keutel 症候群,,,Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported.,先天奇形,,MGP [HSA:4256] [KO:K19481],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536167
 OMIM: 245150","PMID:9674914
 著者        Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM
 タイトル      Keutel syndrome: further characterization and review.
 雑誌        Am J Med Genet 78:182-7 (1998)
 DOI:10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J
 PMID:15810001
 著者        Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA
 タイトル      A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.
 雑誌        Am J Med Genet A 135:36-40 (2005)
 DOI:10.1002/ajmg.a.30680","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00500"">H00500</a>",Keutel 症候群,Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported.,,"MGP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4256"">4256</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19481"">K19481</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536167"">C536167</a>
 OMIM: <a href=""https://www.omim.org/entry/245150"">245150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9674914"">9674914</a>
 著者        Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM
 タイトル      Keutel syndrome: further characterization and review.
 雑誌        Am J Med Genet 78:182-7 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980630)78:"">10.1002/(SICI)1096-8628(19980630)78:</a><a href=""https://doi.org/2<182:"">2<182:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG18>3.0.CO;2-J"">AID-AJMG18>3.0.CO;2-J</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15810001"">15810001</a>
 著者        Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA
 タイトル      A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.
 雑誌        Am J Med Genet A 135:36-40 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30680"">10.1002/ajmg.a.30680</a>"
H00501,"多骨性線維性骨異形成症;
 アルブライト遺伝性骨ジストロフィー",,,"Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition.",先天奇形,,GNAS [HSA:2778] [KO:K04632],,,,,,"ICD-11: FB80.0
 ICD-10: Q78.1
 MeSH: D005359
 OMIM: 174800","PMID:18328981
 著者        Chapurlat RD, Orcel P
 タイトル      Fibrous dysplasia of bone and McCune-Albright syndrome.
 雑誌        Best Pract Res Clin Rheumatol 22:55-69 (2008)
 DOI:10.1016/j.berh.2007.11.004
 PMID:20703219
 著者        Shore EM, Kaplan FS
 タイトル      Inherited human diseases of heterotopic bone formation.
 雑誌        Nat Rev Rheumatol 6:518-27 (2010)
 DOI:10.1038/nrrheum.2010.122
 PMID:15116703
 著者        Job-Deslandre C
 タイトル      Inherited ossifying diseases.
 雑誌        Joint Bone Spine 71:98-101 (2004)
 DOI:10.1016/S1297-319X(03)00130-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00501"">H00501</a>","多骨性線維性骨異形成症;
 アルブライト遺伝性骨ジストロフィー","Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition.",,"GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]",,,,,,"ICD-11: FB80.0
 ICD-10: Q78.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005359"">D005359</a>
 OMIM: <a href=""https://www.omim.org/entry/174800"">174800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328981"">18328981</a>
 著者        Chapurlat RD, Orcel P
 タイトル      Fibrous dysplasia of bone and McCune-Albright syndrome.
 雑誌        Best Pract Res Clin Rheumatol 22:55-69 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.11.004"">10.1016/j.berh.2007.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20703219"">20703219</a>
 著者        Shore EM, Kaplan FS
 タイトル      Inherited human diseases of heterotopic bone formation.
 雑誌        Nat Rev Rheumatol 6:518-27 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrrheum.2010.122"">10.1038/nrrheum.2010.122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15116703"">15116703</a>
 著者        Job-Deslandre C
 タイトル      Inherited ossifying diseases.
 雑誌        Joint Bone Spine 71:98-101 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1297-319X(03)00130-1"">10.1016/S1297-319X(03)00130-1</a>"
H00502,Pallister-Hall 症候群,,,"Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations.",先天奇形,,GLI3 [HSA:2737] [KO:K06230],,,,,,"ICD-11: LD2F.1Y
 ICD-10: D33.0
 MeSH: D054975
 OMIM: 146510","PMID:20301638
 著者        Biesecker LG
 タイトル      Pallister-Hall Syndrome
 雑誌        GeneReviews (1993)
 PMID:15739154
 著者        Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
 タイトル      Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
 雑誌        Am J Hum Genet 76:609-22 (2005)
 DOI:10.1086/429346","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00502"">H00502</a>",Pallister-Hall 症候群,"Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations.",,"GLI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2737"">2737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06230"">K06230</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: D33.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054975"">D054975</a>
 OMIM: <a href=""https://www.omim.org/entry/146510"">146510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301638"">20301638</a>
 著者        Biesecker LG
 タイトル      Pallister-Hall Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15739154"">15739154</a>
 著者        Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
 タイトル      Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
 雑誌        Am J Hum Genet 76:609-22 (2005)
 DOI:<a href=""https://doi.org/10.1086/429346"">10.1086/429346</a>"
H00503,Ellis-van Creveld 症候群,,,"Ellis-van Creveld syndrome is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease.",先天奇形,,"EVC1 [HSA:2121] [KO:K19605]
 EVC2 [HSA:132884] [KO:K19608]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q77.6
 MeSH: D004613
 OMIM: 225500","PMID:17547743
 著者        Baujat G, Le Merrer M
 タイトル      Ellis-van Creveld syndrome.
 雑誌        Orphanet J Rare Dis 2:27 (2007)
 DOI:10.1186/1750-1172-2-27
 PMID:19876929
 著者        Ruiz-Perez VL, Goodship JA
 タイトル      Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
 雑誌        Am J Med Genet C Semin Med Genet 151C:341-51 (2009)
 DOI:10.1002/ajmg.c.30226
 PMID:10700184
 著者        Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J
 タイトル      Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
 雑誌        Nat Genet 24:283-6 (2000)
 DOI:10.1038/73508","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00503"">H00503</a>",Ellis-van Creveld 症候群,"Ellis-van Creveld syndrome is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease.",,"EVC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2121"">2121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19605"">K19605</a>]
 EVC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:132884"">132884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19608"">K19608</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q77.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004613"">D004613</a>
 OMIM: <a href=""https://www.omim.org/entry/225500"">225500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17547743"">17547743</a>
 著者        Baujat G, Le Merrer M
 タイトル      Ellis-van Creveld syndrome.
 雑誌        Orphanet J Rare Dis 2:27 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-27"">10.1186/1750-1172-2-27</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19876929"">19876929</a>
 著者        Ruiz-Perez VL, Goodship JA
 タイトル      Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
 雑誌        Am J Med Genet C Semin Med Genet 151C:341-51 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30226"">10.1002/ajmg.c.30226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10700184"">10700184</a>
 著者        Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J
 タイトル      Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
 雑誌        Nat Genet 24:283-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/73508"">10.1038/73508</a>"
H00504,ルビンシュタイン・テイビ症候群,,,"Rubinstein-Taybi syndrome is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome.",先天奇形,,"CREBBP [HSA:1387] [KO:K04498]
 EP300 [HSA:2033] [KO:K04498]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: D012415
 OMIM: 180849 613684","PMID:7630403
 著者        Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al.
 タイトル      Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
 雑誌        Nature 376:348-51 (1995)
 DOI:10.1038/376348a0
 PMID:16021471
 著者        Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S
 タイトル      DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
 雑誌        Hum Genet 117:485-93 (2005)
 DOI:10.1007/s00439-005-1331-y
 PMID:17942008
 著者        Roelfsema JH, Peters DJ
 タイトル      Rubinstein-Taybi syndrome: clinical and molecular overview.
 雑誌        Expert Rev Mol Med 9:1-16 (2007)
 DOI:10.1017/S1462399407000415","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00504"">H00504</a>",ルビンシュタイン・テイビ症候群,"Rubinstein-Taybi syndrome is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome.",,"CREBBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1387"">1387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]
 EP300 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2033"">2033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012415"">D012415</a>
 OMIM: <a href=""https://www.omim.org/entry/180849"">180849</a> <a href=""https://www.omim.org/entry/613684"">613684</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7630403"">7630403</a>
 著者        Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al.
 タイトル      Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
 雑誌        Nature 376:348-51 (1995)
 DOI:<a href=""https://doi.org/10.1038/376348a0"">10.1038/376348a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16021471"">16021471</a>
 著者        Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S
 タイトル      DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
 雑誌        Hum Genet 117:485-93 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1331-y"">10.1007/s00439-005-1331-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17942008"">17942008</a>
 著者        Roelfsema JH, Peters DJ
 タイトル      Rubinstein-Taybi syndrome: clinical and molecular overview.
 雑誌        Expert Rev Mol Med 9:1-16 (2007)
 DOI:<a href=""https://doi.org/10.1017/S1462399407000415"">10.1017/S1462399407000415</a>"
H00505,"FGFR3関連骨異形成症
 下位グループ    軟骨無形成症 [DS:H01749]
 軟骨低形成症 [DS:H02068]
 致死性骨異形成症 [DS:H01750]
 SADDAN [DS:H02069]",,,FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth.,先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,,,"ICD-11: LD24.0
 ICD-10: Q77.4
 MeSH: D000130 D013796
 OMIM: 100800 146000 187600 187601 616482","PMID:12357475
 著者        Cohen MM Jr
 タイトル      Some chondrodysplasias with short limbs: molecular perspectives.
 雑誌        Am J Med Genet 112:304-13 (2002)
 DOI:10.1002/ajmg.10780
 PMID:10885578
 著者        McIntosh I, Bellus GA, Jab EW
 タイトル      The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
 雑誌        Cell Struct Funct 25:85-96 (2000)
 DOI:10.1247/csf.25.85","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>","FGFR3関連骨異形成症
 下位グループ    軟骨無形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01749"">H01749</a>]
 軟骨低形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02068"">H02068</a>]
 致死性骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01750"">H01750</a>]
 SADDAN [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02069"">H02069</a>]",FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth.,,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,,"ICD-11: LD24.0
 ICD-10: Q77.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000130"">D000130</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013796"">D013796</a>
 OMIM: <a href=""https://www.omim.org/entry/100800"">100800</a> <a href=""https://www.omim.org/entry/146000"">146000</a> <a href=""https://www.omim.org/entry/187600"">187600</a> <a href=""https://www.omim.org/entry/187601"">187601</a> <a href=""https://www.omim.org/entry/616482"">616482</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12357475"">12357475</a>
 著者        Cohen MM Jr
 タイトル      Some chondrodysplasias with short limbs: molecular perspectives.
 雑誌        Am J Med Genet 112:304-13 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10780"">10.1002/ajmg.10780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10885578"">10885578</a>
 著者        McIntosh I, Bellus GA, Jab EW
 タイトル      The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
 雑誌        Cell Struct Funct 25:85-96 (2000)
 DOI:<a href=""https://doi.org/10.1247/csf.25.85"">10.1247/csf.25.85</a>"
H00506,骨形成不全症,,,"Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified.",先天奇形,,"(OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
 (OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
 (OI5) IFITM5 [HSA:387733] [KO:K06566]
 (OI6) SERPINF1 [HSA:5176] [KO:K19614]
 (OI7) CRTAP [HSA:10491] [KO:K19606]
 (OI8) P3H1 [HSA:64175] [KO:K08134]
 (OI9) PPIB [HSA:5479] [KO:K03768]
 (OI10) SERPINH1 [HSA:871] [KO:K09501]
 (OI11) FKBP10 [HSA:60681] [KO:K09575]
 (OI12) SP7 [HSA:121340] [KO:K09197]
 (OI13) BMP1 [HSA:649] [KO:K05502]
 (OI14) TMEM38B [HSA:55151] [KO:K24013]
 (OI15) WNT1 [HSA:7471] [KO:K03209]
 (OI16) CREB3L1 [HSA:90993] [KO:K09048]
 (OI17) SPARC [HSA:6678] [KO:K24262]
 (OI18) TENT5A [HSA:55603] [KO:K23033]
 (OI19) MBTPS2 [HSA:51360] [KO:K07765]
 (OI20) MESD [HSA:23184] [KO:K25366]
 (OI21) KDELR2 [HSA:11014] [KO:K10949]",,,,パミドロン酸二ナトリウム水和物 [DR:D00941],,"ICD-11: LD24.K0
 ICD-10: Q78.0
 MeSH: D010013
 OMIM: 166200 166210 259420 166220 610967 613982 610682 610915 259440 613848 610968 613849 614856 615066 615220 616229 616507 617952 301014 618644 619131","PMID:20855225
 著者        Michou L, Brown JP
 タイトル      Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
 雑誌        Joint Bone Spine 78:252-8 (2011)
 DOI:10.1016/j.jbspin.2010.07.010
 PMID:19878741
 著者        Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM
 タイトル      Classification of Osteogenesis Imperfecta revisited.
 雑誌        Eur J Med Genet 53:1-5 (2010)
 DOI:10.1016/j.ejmg.2009.10.007
 PMID:22863190 (OI5)
 著者        Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW
 タイトル      A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
 雑誌        Am J Hum Genet 91:343-8 (2012)
 DOI:10.1016/j.ajhg.2012.06.005
 PMID:21353196 (OI6)
 著者        Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C
 タイトル      Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 88:362-71 (2011)
 DOI:10.1016/j.ajhg.2011.01.015
 PMID:20188343 (OI10)
 著者        Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH
 タイトル      Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 86:389-98 (2010)
 DOI:10.1016/j.ajhg.2010.01.034
 PMID:22718341 (OI11)
 著者        Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC
 タイトル      Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
 雑誌        Hum Mutat 33:1589-98 (2012)
 DOI:10.1002/humu.22139
 PMID:20579626 (OI12)
 著者        Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL
 タイトル      Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 87:110-4 (2010)
 DOI:10.1016/j.ajhg.2010.05.016
 PMID:22482805 (OI13)
 著者        Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ
 タイトル      Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
 雑誌        Am J Hum Genet 90:661-74 (2012)
 DOI:10.1016/j.ajhg.2012.02.026
 PMID:23316006 (OI14)
 著者        Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS
 タイトル      A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
 雑誌        Hum Mutat 34:582-6 (2013)
 DOI:10.1002/humu.22274
 PMID:23434763 (OI15)
 著者        Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F
 タイトル      Mutations in WNT1 are a cause of osteogenesis imperfecta.
 雑誌        J Med Genet 50:345-8 (2013)
 DOI:10.1136/jmedgenet-2013-101567
 PMID:28817112 (OI16)
 著者        Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH
 タイトル      Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
 雑誌        Genet Med 20:411-419 (2018)
 DOI:10.1038/gim.2017.115
 PMID:26027498 (OI17)
 著者        Mendoza-Londono R, Fahiminiya S, Majewski J, Tetreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bachinger HP, Rauch F
 タイトル      Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
 雑誌        Am J Hum Genet 96:979-85 (2015)
 DOI:10.1016/j.ajhg.2015.04.021
 PMID:29358272 (OI18)
 著者        Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V
 タイトル      FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
 雑誌        J Med Genet 55:278-284 (2018)
 DOI:10.1136/jmedgenet-2017-104999
 PMID:27380894 (OI19)
 著者        Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Rothlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V
 タイトル      MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
 雑誌        Nat Commun 7:11920 (2016)
 DOI:10.1038/ncomms11920
 PMID:31564437 (OI20)
 著者        Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C
 タイトル      Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
 雑誌        Am J Hum Genet 105:836-843 (2019)
 DOI:10.1016/j.ajhg.2019.08.008
 PMID:33053334 (OI21)
 著者        van Dijk FS, Semler O, Etich J, Kohler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nuchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Morgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D
 タイトル      Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
 雑誌        Am J Hum Genet 107:989-999 (2020)
 DOI:10.1016/j.ajhg.2020.09.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00506"">H00506</a>",骨形成不全症,"Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified.",,"(OI1/2/3/4) COL1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1277"">1277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]
 (OI2/3/4) COL1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1278"">1278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]
 (OI5) IFITM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387733"">387733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06566"">K06566</a>]
 (OI6) SERPINF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5176"">5176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19614"">K19614</a>]
 (OI7) CRTAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10491"">10491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19606"">K19606</a>]
 (OI8) P3H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64175"">64175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08134"">K08134</a>]
 (OI9) PPIB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5479"">5479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03768"">K03768</a>]
 (OI10) SERPINH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:871"">871</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09501"">K09501</a>]
 (OI11) FKBP10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60681"">60681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09575"">K09575</a>]
 (OI12) SP7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121340"">121340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09197"">K09197</a>]
 (OI13) BMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:649"">649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05502"">K05502</a>]
 (OI14) TMEM38B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55151"">55151</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24013"">K24013</a>]
 (OI15) WNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7471"">7471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03209"">K03209</a>]
 (OI16) CREB3L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90993"">90993</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09048"">K09048</a>]
 (OI17) SPARC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6678"">6678</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24262"">K24262</a>]
 (OI18) TENT5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55603"">55603</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23033"">K23033</a>]
 (OI19) MBTPS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51360"">51360</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07765"">K07765</a>]
 (OI20) MESD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23184"">23184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25366"">K25366</a>]
 (OI21) KDELR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11014"">11014</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10949"">K10949</a>]",,,,"パミドロン酸二ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00941"">D00941</a>]",,"ICD-11: LD24.K0
 ICD-10: Q78.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010013"">D010013</a>
 OMIM: <a href=""https://www.omim.org/entry/166200"">166200</a> <a href=""https://www.omim.org/entry/166210"">166210</a> <a href=""https://www.omim.org/entry/259420"">259420</a> <a href=""https://www.omim.org/entry/166220"">166220</a> <a href=""https://www.omim.org/entry/610967"">610967</a> <a href=""https://www.omim.org/entry/613982"">613982</a> <a href=""https://www.omim.org/entry/610682"">610682</a> <a href=""https://www.omim.org/entry/610915"">610915</a> <a href=""https://www.omim.org/entry/259440"">259440</a> <a href=""https://www.omim.org/entry/613848"">613848</a> <a href=""https://www.omim.org/entry/610968"">610968</a> <a href=""https://www.omim.org/entry/613849"">613849</a> <a href=""https://www.omim.org/entry/614856"">614856</a> <a href=""https://www.omim.org/entry/615066"">615066</a> <a href=""https://www.omim.org/entry/615220"">615220</a> <a href=""https://www.omim.org/entry/616229"">616229</a> <a href=""https://www.omim.org/entry/616507"">616507</a> <a href=""https://www.omim.org/entry/617952"">617952</a> <a href=""https://www.omim.org/entry/301014"">301014</a> <a href=""https://www.omim.org/entry/618644"">618644</a> <a href=""https://www.omim.org/entry/619131"">619131</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20855225"">20855225</a>
 著者        Michou L, Brown JP
 タイトル      Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
 雑誌        Joint Bone Spine 78:252-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2010.07.010"">10.1016/j.jbspin.2010.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19878741"">19878741</a>
 著者        Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM
 タイトル      Classification of Osteogenesis Imperfecta revisited.
 雑誌        Eur J Med Genet 53:1-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2009.10.007"">10.1016/j.ejmg.2009.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22863190"">22863190</a> (OI5)
 著者        Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW
 タイトル      A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
 雑誌        Am J Hum Genet 91:343-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.06.005"">10.1016/j.ajhg.2012.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21353196"">21353196</a> (OI6)
 著者        Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C
 タイトル      Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 88:362-71 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.01.015"">10.1016/j.ajhg.2011.01.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20188343"">20188343</a> (OI10)
 著者        Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH
 タイトル      Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 86:389-98 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.034"">10.1016/j.ajhg.2010.01.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22718341"">22718341</a> (OI11)
 著者        Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC
 タイトル      Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
 雑誌        Hum Mutat 33:1589-98 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22139"">10.1002/humu.22139</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20579626"">20579626</a> (OI12)
 著者        Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL
 タイトル      Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 87:110-4 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.05.016"">10.1016/j.ajhg.2010.05.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22482805"">22482805</a> (OI13)
 著者        Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ
 タイトル      Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
 雑誌        Am J Hum Genet 90:661-74 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.026"">10.1016/j.ajhg.2012.02.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23316006"">23316006</a> (OI14)
 著者        Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS
 タイトル      A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
 雑誌        Hum Mutat 34:582-6 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22274"">10.1002/humu.22274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23434763"">23434763</a> (OI15)
 著者        Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F
 タイトル      Mutations in WNT1 are a cause of osteogenesis imperfecta.
 雑誌        J Med Genet 50:345-8 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101567"">10.1136/jmedgenet-2013-101567</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28817112"">28817112</a> (OI16)
 著者        Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH
 タイトル      Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
 雑誌        Genet Med 20:411-419 (2018)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.115"">10.1038/gim.2017.115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26027498"">26027498</a> (OI17)
 著者        Mendoza-Londono R, Fahiminiya S, Majewski J, Tetreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bachinger HP, Rauch F
 タイトル      Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
 雑誌        Am J Hum Genet 96:979-85 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.021"">10.1016/j.ajhg.2015.04.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29358272"">29358272</a> (OI18)
 著者        Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V
 タイトル      FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
 雑誌        J Med Genet 55:278-284 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104999"">10.1136/jmedgenet-2017-104999</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27380894"">27380894</a> (OI19)
 著者        Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Rothlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V
 タイトル      MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
 雑誌        Nat Commun 7:11920 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms11920"">10.1038/ncomms11920</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31564437"">31564437</a> (OI20)
 著者        Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C
 タイトル      Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
 雑誌        Am J Hum Genet 105:836-843 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.08.008"">10.1016/j.ajhg.2019.08.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33053334"">33053334</a> (OI21)
 著者        van Dijk FS, Semler O, Etich J, Kohler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nuchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Morgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D
 タイトル      Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
 雑誌        Am J Hum Genet 107:989-999 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.09.009"">10.1016/j.ajhg.2020.09.009</a>"
H00507,"先天性角化異常症
 下位グループ    X連鎖先天性角化異常症 (DKCX) [DS:H00788]
 常染色体優性遺伝性先天性角化異常症 (DKCA)
 常染色体劣性遺伝性先天性角化異常症 (DKCB)
 Revesz 症候群 [DS:H00921]",,,"Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis.",リボソーム病,,"(DKCX) DKC1 [HSA:1736] [KO:K11131]
 (DKCA1) TERC [HSA:7012] [KO:K22183]
 (DKCA2/B4) TERT [HSA:7015] [KO:K11126]
 (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112]
 (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
 (DKCA6/B7) ACD [HSA:65057] [KO:K11114]
 (DKCB1) NOP10 [HSA:55505] [KO:K11130]
 (DKCB2) NHP2 [HSA:55651] [KO:K11129]
 (DKCB3) WRAP53 [HSA:55135] [KO:K23314]
 (DKCB6) PARN [HSA:5073] [KO:K01148]",,,,,,"ICD-11: 3A70.0
 ICD-10: Q82.8
 MeSH: D019871
 OMIM: 305000 127550 613989 613990 615190 616553 224230 613987 613988 616353","PMID:18005359
 著者        Kirwan M, Dokal I
 タイトル      Dyskeratosis congenita: a genetic disorder of many faces.
 雑誌        Clin Genet 73:103-12 (2008)
 DOI:10.1111/j.1399-0004.2007.00923.x
 PMID:20008900
 著者        Trahan C, Martel C, Dragon F
 タイトル      Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
 雑誌        Hum Mol Genet 19:825-36 (2010)
 DOI:10.1093/hmg/ddp551
 PMID:18460650
 著者        Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T
 タイトル      Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
 雑誌        Haematologica 93:943-4 (2008)
 DOI:10.3324/haematol.12317
 PMID:17785587
 著者        Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
 タイトル      Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
 雑誌        Blood 110:4198-205 (2007)
 DOI:10.1182/blood-2006-12-062851
 PMID:21477109
 著者        Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA
 タイトル      Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
 雑誌        Clin Genet 81:470-8 (2012)
 DOI:10.1111/j.1399-0004.2011.01658.x
 PMID:25205116
 著者        Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM
 タイトル      Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
 雑誌        Blood 124:2767-74 (2014)
 DOI:10.1182/blood-2014-08-596445
 PMID:21205863
 著者        Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE
 タイトル      Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
 雑誌        Genes Dev 25:11-6 (2011)
 DOI:10.1101/gad.2006411
 PMID:23329068
 著者        Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA
 タイトル      Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
 雑誌        Hum Genet 132:473-80 (2013)
 DOI:10.1007/s00439-013-1265-8
 PMID:26342108
 著者        Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y
 タイトル      Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
 雑誌        J Med Genet 52:738-48 (2015)
 DOI:10.1136/jmedgenet-2015-103292","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00507"">H00507</a>","先天性角化異常症
 下位グループ    X連鎖先天性角化異常症 (DKCX) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00788"">H00788</a>]
 常染色体優性遺伝性先天性角化異常症 (DKCA)
 常染色体劣性遺伝性先天性角化異常症 (DKCB)
 Revesz 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00921"">H00921</a>]","Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis.",,"(DKCX) DKC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1736"">1736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11131"">K11131</a>]
 (DKCA1) TERC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7012"">7012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22183"">K22183</a>]
 (DKCA2/B4) TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 (DKCA3/A5) TINF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26277"">26277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11112"">K11112</a>]
 (DKCA4/B5) RTEL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51750"">51750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11136"">K11136</a>]
 (DKCA6/B7) ACD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65057"">65057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11114"">K11114</a>]
 (DKCB1) NOP10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55505"">55505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11130"">K11130</a>]
 (DKCB2) NHP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55651"">55651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11129"">K11129</a>]
 (DKCB3) WRAP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55135"">55135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23314"">K23314</a>]
 (DKCB6) PARN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5073"">5073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01148"">K01148</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019871"">D019871</a>
 OMIM: <a href=""https://www.omim.org/entry/305000"">305000</a> <a href=""https://www.omim.org/entry/127550"">127550</a> <a href=""https://www.omim.org/entry/613989"">613989</a> <a href=""https://www.omim.org/entry/613990"">613990</a> <a href=""https://www.omim.org/entry/615190"">615190</a> <a href=""https://www.omim.org/entry/616553"">616553</a> <a href=""https://www.omim.org/entry/224230"">224230</a> <a href=""https://www.omim.org/entry/613987"">613987</a> <a href=""https://www.omim.org/entry/613988"">613988</a> <a href=""https://www.omim.org/entry/616353"">616353</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18005359"">18005359</a>
 著者        Kirwan M, Dokal I
 タイトル      Dyskeratosis congenita: a genetic disorder of many faces.
 雑誌        Clin Genet 73:103-12 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00923.x"">10.1111/j.1399-0004.2007.00923.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20008900"">20008900</a>
 著者        Trahan C, Martel C, Dragon F
 タイトル      Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
 雑誌        Hum Mol Genet 19:825-36 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp551"">10.1093/hmg/ddp551</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18460650"">18460650</a>
 著者        Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T
 タイトル      Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
 雑誌        Haematologica 93:943-4 (2008)
 DOI:<a href=""https://doi.org/10.3324/haematol.12317"">10.3324/haematol.12317</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17785587"">17785587</a>
 著者        Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
 タイトル      Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
 雑誌        Blood 110:4198-205 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2006-12-062851"">10.1182/blood-2006-12-062851</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21477109"">21477109</a>
 著者        Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA
 タイトル      Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
 雑誌        Clin Genet 81:470-8 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01658.x"">10.1111/j.1399-0004.2011.01658.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25205116"">25205116</a>
 著者        Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM
 タイトル      Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
 雑誌        Blood 124:2767-74 (2014)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-08-596445"">10.1182/blood-2014-08-596445</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21205863"">21205863</a>
 著者        Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE
 タイトル      Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
 雑誌        Genes Dev 25:11-6 (2011)
 DOI:<a href=""https://doi.org/10.1101/gad.2006411"">10.1101/gad.2006411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23329068"">23329068</a>
 著者        Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA
 タイトル      Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
 雑誌        Hum Genet 132:473-80 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1265-8"">10.1007/s00439-013-1265-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26342108"">26342108</a>
 著者        Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y
 タイトル      Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
 雑誌        J Med Genet 52:738-48 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103292"">10.1136/jmedgenet-2015-103292</a>"
H00508,"Blomstrand 症候群;
 Blomstrand 軟骨異形成症",,,Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation.,先天奇形,,PTHR1 [HSA:5745] [KO:K04585],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: C537914
 OMIM: 215045","PMID:15525660
 著者        Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C
 タイトル      Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
 雑誌        Hum Mol Genet 14:1-5 (2005)
 DOI:10.1093/hmg/ddi001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00508"">H00508</a>","Blomstrand 症候群;
 Blomstrand 軟骨異形成症",Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation.,,"PTHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5745"">5745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04585"">K04585</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537914"">C537914</a>
 OMIM: <a href=""https://www.omim.org/entry/215045"">215045</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15525660"">15525660</a>
 著者        Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C
 タイトル      Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
 雑誌        Hum Mol Genet 14:1-5 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi001"">10.1093/hmg/ddi001</a>"
H00509,3M 症候群,,,The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1.,先天奇形,,"(3M1) CUL7 [HSA:9820] [KO:K10613]
 (3M2) OBSL1 [HSA:23363] [KO:K19574]
 (3M3) CCDC8 [HSA:83987] [KO:K17561]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: C535314
 OMIM: 273750 612921 614205","PMID:21396581
 著者        Huber C, Munnich A, Cormier-Daire V
 タイトル      The 3M syndrome.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:143-51 (2011)
 DOI:10.1016/j.beem.2010.08.015
 PMID:19225462 (CUL7)
 著者        Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V
 タイトル      A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
 雑誌        Eur J Hum Genet 17:395-400 (2009)
 DOI:10.1038/ejhg.2008.200
 PMID:19481195 (OBSL1)
 著者        Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE
 タイトル      The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
 雑誌        Am J Hum Genet 84:801-6 (2009)
 DOI:10.1016/j.ajhg.2009.04.021
 PMID:21737058 (CCDC8)
 著者        Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC
 タイトル      Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
 雑誌        Am J Hum Genet 89:148-53 (2011)
 DOI:10.1016/j.ajhg.2011.05.028","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00509"">H00509</a>",3M 症候群,The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1.,,"(3M1) CUL7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9820"">9820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10613"">K10613</a>]
 (3M2) OBSL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23363"">23363</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19574"">K19574</a>]
 (3M3) CCDC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83987"">83987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17561"">K17561</a>]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535314"">C535314</a>
 OMIM: <a href=""https://www.omim.org/entry/273750"">273750</a> <a href=""https://www.omim.org/entry/612921"">612921</a> <a href=""https://www.omim.org/entry/614205"">614205</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21396581"">21396581</a>
 著者        Huber C, Munnich A, Cormier-Daire V
 タイトル      The 3M syndrome.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:143-51 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2010.08.015"">10.1016/j.beem.2010.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19225462"">19225462</a> (CUL7)
 著者        Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V
 タイトル      A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
 雑誌        Eur J Hum Genet 17:395-400 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.200"">10.1038/ejhg.2008.200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19481195"">19481195</a> (OBSL1)
 著者        Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE
 タイトル      The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
 雑誌        Am J Hum Genet 84:801-6 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.021"">10.1016/j.ajhg.2009.04.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21737058"">21737058</a> (CCDC8)
 著者        Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC
 タイトル      Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
 雑誌        Am J Hum Genet 89:148-53 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.028"">10.1016/j.ajhg.2011.05.028</a>"
H00510,ファインゴールド症候群,,,"Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).",先天奇形,,"(FGLDS1) MYCN [HSA:4613] [KO:K09109]
 (FGLDS2) MIR17HG [HSA:407975]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537734
 OMIM: 164280 614326","PMID:19790289
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:10.1111/j.1399-0004.2009.01238.x
 PMID:16906565
 著者        Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi G, van Bokhoven H, Kellermayer R
 タイトル      Expanding the clinical spectrum of MYCN-related Feingold syndrome.
 雑誌        Am J Med Genet A 140:2254-6 (2006)
 DOI:10.1002/ajmg.a.31407
 PMID:20301770
 著者        Marcelis CLM, de Brouwer APM
 タイトル      Feingold Syndrome
 雑誌        GeneReviews (1993)
 PMID:9096751
 著者        Kawame H, Pagon RA, Hudgins L
 タイトル      Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
 雑誌        Am J Med Genet 69:240-4 (1997)
 DOI:10.1002/(SICI)1096-8628(19970331)69:3<240::AID-AJMG6>3.0.CO;2-P
 PMID:21892160
 著者        de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J
 タイトル      Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans.
 雑誌        Nat Genet 43:1026-30 (2011)
 DOI:10.1038/ng.915
 PMID:25391829
 著者        Ganjavi H, Siu VM, Speevak M, MacDonald PA
 タイトル      A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
 雑誌        BMJ Case Rep 2014:bcr2014207501 (2014)
 DOI:10.1136/bcr-2014-207501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00510"">H00510</a>",ファインゴールド症候群,"Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).",,"(FGLDS1) MYCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4613"">4613</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09109"">K09109</a>]
 (FGLDS2) MIR17HG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:407975"">407975</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537734"">C537734</a>
 OMIM: <a href=""https://www.omim.org/entry/164280"">164280</a> <a href=""https://www.omim.org/entry/614326"">614326</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19790289"">19790289</a>
 著者        Mundlos S
 タイトル      The brachydactylies: a molecular disease family.
 雑誌        Clin Genet 76:123-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01238.x"">10.1111/j.1399-0004.2009.01238.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16906565"">16906565</a>
 著者        Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi G, van Bokhoven H, Kellermayer R
 タイトル      Expanding the clinical spectrum of MYCN-related Feingold syndrome.
 雑誌        Am J Med Genet A 140:2254-6 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31407"">10.1002/ajmg.a.31407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301770"">20301770</a>
 著者        Marcelis CLM, de Brouwer APM
 タイトル      Feingold Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9096751"">9096751</a>
 著者        Kawame H, Pagon RA, Hudgins L
 タイトル      Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
 雑誌        Am J Med Genet 69:240-4 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19970331)69:"">10.1002/(SICI)1096-8628(19970331)69:</a><a href=""https://doi.org/3<240:"">3<240:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG6>3.0.CO;2-P"">AID-AJMG6>3.0.CO;2-P</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21892160"">21892160</a>
 著者        de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J
 タイトル      Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans.
 雑誌        Nat Genet 43:1026-30 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.915"">10.1038/ng.915</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25391829"">25391829</a>
 著者        Ganjavi H, Siu VM, Speevak M, MacDonald PA
 タイトル      A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
 雑誌        BMJ Case Rep 2014:bcr2014207501 (2014)
 DOI:<a href=""https://doi.org/10.1136/bcr-2014-207501"">10.1136/bcr-2014-207501</a>"
H00511,"短肋骨多指症候群
 上位グループ    短肋骨胸郭異形成症 [DS:H02157]",,,"Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate.",先天奇形,,"(SRPS1/2B/3) DYNC2H1 [HSA:79659] [KO:K10414]
 (SRPS2A) NEK1 [HSA:4750] [KO:K08857]
 (SRPS5) WDR35 [HSA:57539] [KO:K19674]
 (SRPS6) WDR60 [HSA:55112] [KO:K22869]",,,,,,"ICD-11: LD24.B0
 ICD-10: Q77.2
 MeSH: D012779
 OMIM: 613091 263520 614091 615503","PMID:19361615
 著者        Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D
 タイトル      Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
 雑誌        Am J Hum Genet 84:542-9 (2009)
 DOI:10.1016/j.ajhg.2009.03.015
 PMID:19442771
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:10.1016/j.ajhg.2009.04.016
 PMID:21211617
 著者        Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A
 タイトル      NEK1 mutations cause short-rib polydactyly syndrome type majewski.
 雑誌        Am J Hum Genet 88:106-14 (2011)
 DOI:10.1016/j.ajhg.2010.12.004
 PMID:28400947
 著者        Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
 雑誌        Cilia 6:7 (2017)
 DOI:10.1186/s13630-017-0051-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00511"">H00511</a>","短肋骨多指症候群
 上位グループ    短肋骨胸郭異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02157"">H02157</a>]","Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate.",,"(SRPS1/2B/3) DYNC2H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79659"">79659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10414"">K10414</a>]
 (SRPS2A) NEK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4750"">4750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08857"">K08857</a>]
 (SRPS5) WDR35 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57539"">57539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19674"">K19674</a>]
 (SRPS6) WDR60 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55112"">55112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22869"">K22869</a>]",,,,,,"ICD-11: LD24.B0
 ICD-10: Q77.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012779"">D012779</a>
 OMIM: <a href=""https://www.omim.org/entry/613091"">613091</a> <a href=""https://www.omim.org/entry/263520"">263520</a> <a href=""https://www.omim.org/entry/614091"">614091</a> <a href=""https://www.omim.org/entry/615503"">615503</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19361615"">19361615</a>
 著者        Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D
 タイトル      Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
 雑誌        Am J Hum Genet 84:542-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.015"">10.1016/j.ajhg.2009.03.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19442771"">19442771</a>
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.016"">10.1016/j.ajhg.2009.04.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21211617"">21211617</a>
 著者        Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A
 タイトル      NEK1 mutations cause short-rib polydactyly syndrome type majewski.
 雑誌        Am J Hum Genet 88:106-14 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.004"">10.1016/j.ajhg.2010.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28400947"">28400947</a>
 著者        Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
 雑誌        Cilia 6:7 (2017)
 DOI:<a href=""https://doi.org/10.1186/s13630-017-0051-y"">10.1186/s13630-017-0051-y</a>"
H00512,新生児永続型糖尿病,,,"Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.",代謝疾患; 内分泌系疾患,,"(PNDM1) GCK [HSA:2645] [KO:K12407]
 (PNDM2) KCNJ11 [HSA:3767] [KO:K05004]
 (PNDM3) ABCC8 [HSA:6833] [KO:K05032]
 (PNDM4) INS [HSA:3630] [KO:K04526]
 (PAGEN1) PDX1 [HSA:3651] [KO:K07594]
 (PACA) PTF1A [HSA:256297] [KO:K09073]
 (IPEX) FOXP3 [HSA:50943] [KO:K10163]
 (NDH) GLIS3 [HSA:169792] [KO:K09232]",,,,,,"ICD-11: KB60.2Y
 ICD-10: P70.2
 MeSH: C563424 C563425 C563796
 OMIM: 606176 618856 618857 618858 260370 609069 304790 610199","PMID:17349054
 著者        Polak M, Cave H
 タイトル      Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
 雑誌        Orphanet J Rare Dis 2:12 (2007)
 DOI:10.1186/1750-1172-2-12
 PMID:21054355
 著者        Rubio-Cabezas O, Klupa T, Malecki MT
 タイトル      Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
 雑誌        Eur J Clin Invest 41:323-33 (2011)
 DOI:10.1111/j.1365-2362.2010.02409.x
 PMID:11372010 (GCK)
 著者        Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI
 タイトル      Neonatal diabetes mellitus due to complete glucokinase deficiency.
 雑誌        N Engl J Med 344:1588-92 (2001)
 DOI:10.1056/NEJM200105243442104
 PMID:15115830 (KCNJ11)
 著者        Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT
 タイトル      Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
 雑誌        N Engl J Med 350:1838-49 (2004)
 DOI:10.1056/NEJMoa032922
 PMID:16613899 (ABCC8)
 著者        Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S
 タイトル      A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
 雑誌        Hum Mol Genet 15:1793-800 (2006)
 DOI:10.1093/hmg/ddl101
 PMID:17855560 (INS)
 著者        Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI
 タイトル      Insulin gene mutations as a cause of permanent neonatal diabetes.
 雑誌        Proc Natl Acad Sci U S A 104:15040-4 (2007)
 DOI:10.1073/pnas.0707291104
 PMID:20009086 (PDX1)
 著者        Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C
 タイトル      A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
 雑誌        Diabetes 59:733-40 (2010)
 DOI:10.2337/db09-1284
 PMID:15543146 (PTF1A)
 著者        Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS
 タイトル      Mutations in PTF1A cause pancreatic and cerebellar agenesis.
 雑誌        Nat Genet 36:1301-5 (2004)
 DOI:10.1038/ng1475
 PMID:16741580 (FOXP3)
 著者        Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG
 タイトル      Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
 雑誌        J Clin Invest 116:1713-22 (2006)
 DOI:10.1172/JCI25112
 PMID:16715098 (GLIS3)
 著者        Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C
 タイトル      Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
 雑誌        Nat Genet 38:682-7 (2006)
 DOI:10.1038/ng1802","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00512"">H00512</a>",新生児永続型糖尿病,"Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.",,"(PNDM1) GCK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2645"">2645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12407"">K12407</a>]
 (PNDM2) KCNJ11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3767"">3767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05004"">K05004</a>]
 (PNDM3) ABCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6833"">6833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05032"">K05032</a>]
 (PNDM4) INS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3630"">3630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04526"">K04526</a>]
 (PAGEN1) PDX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3651"">3651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07594"">K07594</a>]
 (PACA) PTF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:256297"">256297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09073"">K09073</a>]
 (IPEX) FOXP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50943"">50943</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10163"">K10163</a>]
 (NDH) GLIS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:169792"">169792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09232"">K09232</a>]",,,,,,"ICD-11: KB60.2Y
 ICD-10: P70.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563424"">C563424</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563425"">C563425</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563796"">C563796</a>
 OMIM: <a href=""https://www.omim.org/entry/606176"">606176</a> <a href=""https://www.omim.org/entry/618856"">618856</a> <a href=""https://www.omim.org/entry/618857"">618857</a> <a href=""https://www.omim.org/entry/618858"">618858</a> <a href=""https://www.omim.org/entry/260370"">260370</a> <a href=""https://www.omim.org/entry/609069"">609069</a> <a href=""https://www.omim.org/entry/304790"">304790</a> <a href=""https://www.omim.org/entry/610199"">610199</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17349054"">17349054</a>
 著者        Polak M, Cave H
 タイトル      Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
 雑誌        Orphanet J Rare Dis 2:12 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-12"">10.1186/1750-1172-2-12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21054355"">21054355</a>
 著者        Rubio-Cabezas O, Klupa T, Malecki MT
 タイトル      Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
 雑誌        Eur J Clin Invest 41:323-33 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2362.2010.02409.x"">10.1111/j.1365-2362.2010.02409.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11372010"">11372010</a> (GCK)
 著者        Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI
 タイトル      Neonatal diabetes mellitus due to complete glucokinase deficiency.
 雑誌        N Engl J Med 344:1588-92 (2001)
 DOI:<a href=""https://doi.org/10.1056/NEJM200105243442104"">10.1056/NEJM200105243442104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15115830"">15115830</a> (KCNJ11)
 著者        Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT
 タイトル      Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
 雑誌        N Engl J Med 350:1838-49 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa032922"">10.1056/NEJMoa032922</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16613899"">16613899</a> (ABCC8)
 著者        Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S
 タイトル      A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
 雑誌        Hum Mol Genet 15:1793-800 (2006)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl101"">10.1093/hmg/ddl101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17855560"">17855560</a> (INS)
 著者        Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI
 タイトル      Insulin gene mutations as a cause of permanent neonatal diabetes.
 雑誌        Proc Natl Acad Sci U S A 104:15040-4 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0707291104"">10.1073/pnas.0707291104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20009086"">20009086</a> (PDX1)
 著者        Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C
 タイトル      A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
 雑誌        Diabetes 59:733-40 (2010)
 DOI:<a href=""https://doi.org/10.2337/db09-1284"">10.2337/db09-1284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15543146"">15543146</a> (PTF1A)
 著者        Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS
 タイトル      Mutations in PTF1A cause pancreatic and cerebellar agenesis.
 雑誌        Nat Genet 36:1301-5 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1475"">10.1038/ng1475</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16741580"">16741580</a> (FOXP3)
 著者        Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG
 タイトル      Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
 雑誌        J Clin Invest 116:1713-22 (2006)
 DOI:<a href=""https://doi.org/10.1172/JCI25112"">10.1172/JCI25112</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16715098"">16715098</a> (GLIS3)
 著者        Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C
 タイトル      Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
 雑誌        Nat Genet 38:682-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1802"">10.1038/ng1802</a>"
H00513,新生児一過性糖尿病,,,"Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). TNDM is a developmental disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes, PLAGL1 and HYMAI, on chromosome 6q24. Hypomethylation of multiple imprinted loci is associated with mutations in ZFP57. Mutations in ABCC8 and KCNJ11 encoding Kir6.2 and SUR1 are other genetic causes of TNDM.",代謝疾患; 内分泌系疾患,,"(TNDM1) ZFP57 [HSA:346171] [KO:K09228]
 (TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
 (TNDM2) ABCC8 [HSA:6833] [KO:K05032]
 (TNDM3) KCNJ11 [HSA:3767] [KO:K05004]",,,,,,"ICD-11: KB60.20
 ICD-10: P70.2
 MeSH: C563322 C563672 C566432
 OMIM: 601410 610374 610582","PMID:21034612
 著者        Xu XF, Du LZ
 タイトル      Epigenetics in neonatal diseases.
 雑誌        Chin Med J (Engl) 123:2948-54 (2010)
 DOI:10.3760/cma.j.issn.0366-6999.2010.20.036
 PMID:20922569
 著者        Temple IK, Shield JP
 タイトル      6q24 transient neonatal diabetes.
 雑誌        Rev Endocr Metab Disord 11:199-204 (2010)
 DOI:10.1007/s11154-010-9150-4
 PMID:17349054
 著者        Polak M, Cave H
 タイトル      Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
 雑誌        Orphanet J Rare Dis 2:12 (2007)
 DOI:10.1186/1750-1172-2-12
 PMID:18622393 (ZFP57)
 著者        Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK
 タイトル      Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
 雑誌        Nat Genet 40:949-51 (2008)
 DOI:10.1038/ng.187
 PMID:11448939 (PLAGL1)
 著者        Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA
 タイトル      A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
 雑誌        Hum Mol Genet 10:1475-83 (2001)
 DOI:10.1093/hmg/10.14.1475
 PMID:16885549 (ABCC8)
 著者        Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P
 タイトル      Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
 雑誌        N Engl J Med 355:456-66 (2006)
 DOI:10.1056/NEJMoa055068
 PMID:15784703 (KCNJ11)
 著者        Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T
 タイトル      The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
 雑誌        J Clin Endocrinol Metab 90:3174-8 (2005)
 DOI:10.1210/jc.2005-0096","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00513"">H00513</a>",新生児一過性糖尿病,"Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). TNDM is a developmental disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes, PLAGL1 and HYMAI, on chromosome 6q24. Hypomethylation of multiple imprinted loci is associated with mutations in ZFP57. Mutations in ABCC8 and KCNJ11 encoding Kir6.2 and SUR1 are other genetic causes of TNDM.",,"(TNDM1) ZFP57 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:346171"">346171</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09228"">K09228</a>]
 (TNDM1) PLAGL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5325"">5325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19485"">K19485</a>]
 (TNDM2) ABCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6833"">6833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05032"">K05032</a>]
 (TNDM3) KCNJ11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3767"">3767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05004"">K05004</a>]",,,,,,"ICD-11: KB60.20
 ICD-10: P70.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563322"">C563322</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563672"">C563672</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566432"">C566432</a>
 OMIM: <a href=""https://www.omim.org/entry/601410"">601410</a> <a href=""https://www.omim.org/entry/610374"">610374</a> <a href=""https://www.omim.org/entry/610582"">610582</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21034612"">21034612</a>
 著者        Xu XF, Du LZ
 タイトル      Epigenetics in neonatal diseases.
 雑誌        Chin Med J (Engl) 123:2948-54 (2010)
 DOI:<a href=""https://doi.org/10.3760/cma.j.issn.0366-6999.2010.20.036"">10.3760/cma.j.issn.0366-6999.2010.20.036</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20922569"">20922569</a>
 著者        Temple IK, Shield JP
 タイトル      6q24 transient neonatal diabetes.
 雑誌        Rev Endocr Metab Disord 11:199-204 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11154-010-9150-4"">10.1007/s11154-010-9150-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17349054"">17349054</a>
 著者        Polak M, Cave H
 タイトル      Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
 雑誌        Orphanet J Rare Dis 2:12 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-12"">10.1186/1750-1172-2-12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18622393"">18622393</a> (ZFP57)
 著者        Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK
 タイトル      Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
 雑誌        Nat Genet 40:949-51 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.187"">10.1038/ng.187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11448939"">11448939</a> (PLAGL1)
 著者        Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA
 タイトル      A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
 雑誌        Hum Mol Genet 10:1475-83 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.14.1475"">10.1093/hmg/10.14.1475</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16885549"">16885549</a> (ABCC8)
 著者        Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P
 タイトル      Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
 雑誌        N Engl J Med 355:456-66 (2006)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa055068"">10.1056/NEJMoa055068</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15784703"">15784703</a> (KCNJ11)
 著者        Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T
 タイトル      The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
 雑誌        J Clin Endocrinol Metab 90:3174-8 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-0096"">10.1210/jc.2005-0096</a>"
H00514,ブルック症候群,,,"Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.",先天奇形,,"PLOD2 [HSA:5352] [KO:K13645]
 FKBP10 [HSA:60681] [KO:K09575]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.0
 MeSH: C537406 C537407
 OMIM: 609220","PMID:15523624
 著者        Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L
 タイトル      Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
 雑誌        Am J Med Genet A 131:115-20 (2004)
 DOI:10.1002/ajmg.a.30231
 PMID:21567934
 著者        Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS
 タイトル      Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
 雑誌        Am J Med Genet A 155A:1448-52 (2011)
 DOI:10.1002/ajmg.a.34025","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00514"">H00514</a>",ブルック症候群,"Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.",,"PLOD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5352"">5352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13645"">K13645</a>]
 FKBP10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60681"">60681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09575"">K09575</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537406"">C537406</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537407"">C537407</a>
 OMIM: <a href=""https://www.omim.org/entry/609220"">609220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15523624"">15523624</a>
 著者        Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L
 タイトル      Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
 雑誌        Am J Med Genet A 131:115-20 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30231"">10.1002/ajmg.a.30231</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21567934"">21567934</a>
 著者        Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS
 タイトル      Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
 雑誌        Am J Med Genet A 155A:1448-52 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34025"">10.1002/ajmg.a.34025</a>"
H00515,骨発生不全症 II 型,,,"Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene.",先天奇形,,DTDST [HSA:1836] [KO:K14701],,,,,,"ICD-11: LD24.03
 ICD-10: Q77.5
 MeSH: C535395
 OMIM: 256050","PMID:11448940
 著者        Karniski LP
 タイトル      Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
 雑誌        Hum Mol Genet 10:1485-90 (2001)
 DOI:10.1093/hmg/10.14.1485
 PMID:8571951
 著者        Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
 タイトル      Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
 雑誌        Am J Hum Genet 58:255-62 (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00515"">H00515</a>",骨発生不全症 II 型,"Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene.",,"DTDST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1836"">1836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14701"">K14701</a>]",,,,,,"ICD-11: LD24.03
 ICD-10: Q77.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535395"">C535395</a>
 OMIM: <a href=""https://www.omim.org/entry/256050"">256050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11448940"">11448940</a>
 著者        Karniski LP
 タイトル      Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
 雑誌        Hum Mol Genet 10:1485-90 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.14.1485"">10.1093/hmg/10.14.1485</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8571951"">8571951</a>
 著者        Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
 タイトル      Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
 雑誌        Am J Hum Genet 58:255-62 (1996)"
H00516,口唇口蓋裂,,,"Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome or in the absence of other defects. A large fraction of clefts occurs without other defects and is termed isolated orofacial clefts.",先天奇形,,"(OFC5) MSX1 [HSA:4487] [KO:K09341]
 (OFC6) IRF6 [HSA:3664] [KO:K10154]
 (OFC7) NECTIN1 [HSA:5818] [KO:K06081]
 (OFC8) TP63 [HSA:8626] [KO:K10149]
 (OFC10) SUMO1 [HSA:7341] [KO:K12160]
 (OFC11) BMP4 [HSA:652] [KO:K04662]
 (OFC15) DLX4 [HSA:1748] [KO:K09314]",,,,,,"ICD-11: LA40 LA41 LA42
 ICD-10: Q37
 MeSH: D002972
 OMIM: 119530 608874 608864 225060 129400 613705 600625 616788","PMID:11753106
 著者        Spritz RA
 タイトル      The genetics and epigenetics of orofacial clefts.
 雑誌        Curr Opin Pediatr 13:556-60 (2001)
 DOI:10.1097/00008480-200112000-00011
 PMID:19583827
 著者        Jugessur A, Farlie PG, Kilpatrick N
 タイトル      The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
 雑誌        Oral Dis 15:437-53 (2009)
 DOI:10.1111/j.1601-0825.2009.01577.x
 PMID:19186243
 著者        Gritli-Linde A
 タイトル      The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models.
 雑誌        Curr Top Dev Biol 84:37-138 (2008)
 DOI:10.1016/S0070-2153(08)00602-9
 PMID:16990542
 著者        Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL
 タイトル      SUMO1 haploinsufficiency leads to cleft lip and palate.
 雑誌        Science 313:1751 (2006)
 DOI:10.1126/science.1128406
 PMID:19249007
 著者        Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC
 タイトル      Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
 雑誌        Am J Hum Genet 84:406-11 (2009)
 DOI:10.1016/j.ajhg.2009.02.002
 PMID:25954033
 著者        Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM
 タイトル      DLX4 is associated with orofacial clefting and abnormal jaw development.
 雑誌        Hum Mol Genet 24:4340-52 (2015)
 DOI:10.1093/hmg/ddv167","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00516"">H00516</a>",口唇口蓋裂,"Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome or in the absence of other defects. A large fraction of clefts occurs without other defects and is termed isolated orofacial clefts.",,"(OFC5) MSX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4487"">4487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09341"">K09341</a>]
 (OFC6) IRF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3664"">3664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10154"">K10154</a>]
 (OFC7) NECTIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5818"">5818</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06081"">K06081</a>]
 (OFC8) TP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]
 (OFC10) SUMO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7341"">7341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12160"">K12160</a>]
 (OFC11) BMP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:652"">652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04662"">K04662</a>]
 (OFC15) DLX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1748"">1748</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09314"">K09314</a>]",,,,,,"ICD-11: LA40 LA41 LA42
 ICD-10: Q37
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002972"">D002972</a>
 OMIM: <a href=""https://www.omim.org/entry/119530"">119530</a> <a href=""https://www.omim.org/entry/608874"">608874</a> <a href=""https://www.omim.org/entry/608864"">608864</a> <a href=""https://www.omim.org/entry/225060"">225060</a> <a href=""https://www.omim.org/entry/129400"">129400</a> <a href=""https://www.omim.org/entry/613705"">613705</a> <a href=""https://www.omim.org/entry/600625"">600625</a> <a href=""https://www.omim.org/entry/616788"">616788</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11753106"">11753106</a>
 著者        Spritz RA
 タイトル      The genetics and epigenetics of orofacial clefts.
 雑誌        Curr Opin Pediatr 13:556-60 (2001)
 DOI:<a href=""https://doi.org/10.1097/00008480-200112000-00011"">10.1097/00008480-200112000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19583827"">19583827</a>
 著者        Jugessur A, Farlie PG, Kilpatrick N
 タイトル      The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
 雑誌        Oral Dis 15:437-53 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1601-0825.2009.01577.x"">10.1111/j.1601-0825.2009.01577.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19186243"">19186243</a>
 著者        Gritli-Linde A
 タイトル      The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models.
 雑誌        Curr Top Dev Biol 84:37-138 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0070-2153(08)00602-9"">10.1016/S0070-2153(08)00602-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16990542"">16990542</a>
 著者        Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL
 タイトル      SUMO1 haploinsufficiency leads to cleft lip and palate.
 雑誌        Science 313:1751 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1128406"">10.1126/science.1128406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19249007"">19249007</a>
 著者        Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC
 タイトル      Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
 雑誌        Am J Hum Genet 84:406-11 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.02.002"">10.1016/j.ajhg.2009.02.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25954033"">25954033</a>
 著者        Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM
 タイトル      DLX4 is associated with orofacial clefting and abnormal jaw development.
 雑誌        Hum Mol Genet 24:4340-52 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv167"">10.1093/hmg/ddv167</a>"
H00517,脊椎肋骨異骨症,,,Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.,先天奇形,,"(SCDO1) DLL3 [HSA:10683] [KO:K06051]
 (SCDO2) MESP2 [HSA:145873] [KO:K09076]
 (SCDO3) LNFG [HSA:3955] [KO:K05948]
 (SCDO4) HES7 [HSA:84667] [KO:K09087]
 (SCDO5) TBX6 [HSA:6911] [KO:K10180]
 (SCDO6) RIPPLY2 [HSA:134701]",,,,,,"ICD-11: LD24.H
 ICD-10: Q76.8
 MeSH: C537565
 OMIM: 277300 608681 609813 613686 122600 616566","PMID:19995916
 著者        Zanotti S, Canalis E
 タイトル      Notch and the skeleton.
 雑誌        Mol Cell Biol 30:886-96 (2010)
 DOI:10.1128/MCB.01285-09
 PMID:17600784
 著者        Shifley ET, Cole SE
 タイトル      The vertebrate segmentation clock and its role in skeletal birth defects.
 雑誌        Birth Defects Res C Embryo Today 81:121-33 (2007)
 DOI:10.1002/bdrc.20090
 PMID:20087400
 著者        Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL
 タイトル      Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
 雑誌        Eur J Hum Genet 18:674-9 (2010)
 DOI:10.1038/ejhg.2009.241
 PMID:23335591
 著者        Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL
 タイトル      Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
 雑誌        Hum Mol Genet 22:1625-31 (2013)
 DOI:10.1093/hmg/ddt012
 PMID:25343988
 著者        McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL
 タイトル      Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
 雑誌        Hum Mol Genet 24:1234-42 (2015)
 DOI:10.1093/hmg/ddu534","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00517"">H00517</a>",脊椎肋骨異骨症,Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.,,"(SCDO1) DLL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10683"">10683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06051"">K06051</a>]
 (SCDO2) MESP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:145873"">145873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09076"">K09076</a>]
 (SCDO3) LNFG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3955"">3955</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05948"">K05948</a>]
 (SCDO4) HES7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84667"">84667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09087"">K09087</a>]
 (SCDO5) TBX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6911"">6911</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10180"">K10180</a>]
 (SCDO6) RIPPLY2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:134701"">134701</a>]",,,,,,"ICD-11: LD24.H
 ICD-10: Q76.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537565"">C537565</a>
 OMIM: <a href=""https://www.omim.org/entry/277300"">277300</a> <a href=""https://www.omim.org/entry/608681"">608681</a> <a href=""https://www.omim.org/entry/609813"">609813</a> <a href=""https://www.omim.org/entry/613686"">613686</a> <a href=""https://www.omim.org/entry/122600"">122600</a> <a href=""https://www.omim.org/entry/616566"">616566</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19995916"">19995916</a>
 著者        Zanotti S, Canalis E
 タイトル      Notch and the skeleton.
 雑誌        Mol Cell Biol 30:886-96 (2010)
 DOI:<a href=""https://doi.org/10.1128/MCB.01285-09"">10.1128/MCB.01285-09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17600784"">17600784</a>
 著者        Shifley ET, Cole SE
 タイトル      The vertebrate segmentation clock and its role in skeletal birth defects.
 雑誌        Birth Defects Res C Embryo Today 81:121-33 (2007)
 DOI:<a href=""https://doi.org/10.1002/bdrc.20090"">10.1002/bdrc.20090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20087400"">20087400</a>
 著者        Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL
 タイトル      Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
 雑誌        Eur J Hum Genet 18:674-9 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.241"">10.1038/ejhg.2009.241</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23335591"">23335591</a>
 著者        Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL
 タイトル      Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
 雑誌        Hum Mol Genet 22:1625-31 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt012"">10.1093/hmg/ddt012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25343988"">25343988</a>
 著者        McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL
 タイトル      Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
 雑誌        Hum Mol Genet 24:1234-42 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu534"">10.1093/hmg/ddu534</a>"
H00518,"貧毛を伴わない骨幹端形成異常
 上位グループ    骨幹端異形成症 [DS:H00479]",,,"Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency.",リボソーム病,,RMRP [HSA:6023] [KO:K14576],,,,,,"ICD-11: LD24.7
 ICD-10: Q78.8
 MeSH: C563574
 OMIM: 250460","PMID:17189938
 著者        Martin AN, Li Y
 タイトル      RNase MRP RNA and human genetic diseases.
 雑誌        Cell Res 17:219-26 (2007)
 DOI:10.1038/sj.cr.7310120
 PMID:11940090
 著者        Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
 タイトル      RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
 雑誌        Clin Genet 61:146-51 (2002)
 DOI:10.1034/j.1399-0004.2002.610210.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00518"">H00518</a>","貧毛を伴わない骨幹端形成異常
 上位グループ    骨幹端異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00479"">H00479</a>]","Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency.",,"RMRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6023"">6023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14576"">K14576</a>]",,,,,,"ICD-11: LD24.7
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563574"">C563574</a>
 OMIM: <a href=""https://www.omim.org/entry/250460"">250460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17189938"">17189938</a>
 著者        Martin AN, Li Y
 タイトル      RNase MRP RNA and human genetic diseases.
 雑誌        Cell Res 17:219-26 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.cr.7310120"">10.1038/sj.cr.7310120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11940090"">11940090</a>
 著者        Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
 タイトル      RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
 雑誌        Clin Genet 61:146-51 (2002)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2002.610210.x"">10.1034/j.1399-0004.2002.610210.x</a>"
H00519,"先天性脊椎骨端異形成
 下位グループ    脊椎骨端異形成 Stanescu 型
 上位グループ    II 型コラーゲン異常症 [DS:H00520]
 脊椎骨端異形成 [DS:H02462]",,,"Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases.",先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: D010009
 OMIM: 183900 616583","PMID:1971141
 著者        Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P
 タイトル      Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
 雑誌        Am J Hum Genet 46:896-901 (1990)
 PMID:26420734
 著者        Hammarsjo A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedren S, Nordenskjold M, Nishimura G, Grigelioniene G
 タイトル      Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
 雑誌        Am J Med Genet A 170A:266-9 (2016)
 DOI:10.1002/ajmg.a.37387","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00519"">H00519</a>","先天性脊椎骨端異形成
 下位グループ    脊椎骨端異形成 Stanescu 型
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]
 脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases.",,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/183900"">183900</a> <a href=""https://www.omim.org/entry/616583"">616583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1971141"">1971141</a>
 著者        Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P
 タイトル      Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
 雑誌        Am J Hum Genet 46:896-901 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26420734"">26420734</a>
 著者        Hammarsjo A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedren S, Nordenskjold M, Nishimura G, Grigelioniene G
 タイトル      Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
 雑誌        Am J Med Genet A 170A:266-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37387"">10.1002/ajmg.a.37387</a>"
H00520,"II 型コラーゲン異常症
 下位グループ    軟骨無発生症 II 型 [DS:H02066]
 レッグ・カルベ・ペルテス病 [DS:H01526]
 軽症の軟骨形成異常に伴う変形性関節症 [DS:H00445]
 Kniest 異形成症 [DS:H02070]
 Czech 異形成症 [DS:H02071]
 先天性脊椎骨端異形成 [DS:H00519]",,,Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by reduced collagen content in cartilage (Kniest dysplasia).,先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24
 ICD-10: Q77.0
 OMIM: 200610 150600 604864 156550 609162 183900 616583","PMID:12453309
 著者        Reginato AM, Olsen BR
 タイトル      The role of structural genes in the pathogenesis of osteoarthritic disorders.
 雑誌        Arthritis Res 4:337-45 (2002)
 DOI:10.1186/ar595
 PMID:8791509
 著者        Francomano CA, McIntosh I, Wilkin DJ
 タイトル      Bone dysplasias in man: molecular insights.
 雑誌        Curr Opin Genet Dev 6:301-8 (1996)
 DOI:10.1016/S0959-437X(96)80006-2
 PMID:21332586
 著者        Kannu P, Bateman J, Savarirayan R
 タイトル      Clinical phenotypes associated with type II collagen mutations.
 雑誌        J Paediatr Child Health 48:E38-43 (2012)
 DOI:10.1111/j.1440-1754.2010.01979.x
 PMID:15643621
 著者        Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A
 タイトル      Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
 雑誌        Am J Med Genet A 133A:61-7 (2005)
 DOI:10.1002/ajmg.a.30531","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>","II 型コラーゲン異常症
 下位グループ    軟骨無発生症 II 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02066"">H02066</a>]
 レッグ・カルベ・ペルテス病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01526"">H01526</a>]
 軽症の軟骨形成異常に伴う変形性関節症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00445"">H00445</a>]
 Kniest 異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02070"">H02070</a>]
 Czech 異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02071"">H02071</a>]
 先天性脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00519"">H00519</a>]",Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by reduced collagen content in cartilage (Kniest dysplasia).,,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24
 ICD-10: Q77.0
 OMIM: <a href=""https://www.omim.org/entry/200610"">200610</a> <a href=""https://www.omim.org/entry/150600"">150600</a> <a href=""https://www.omim.org/entry/604864"">604864</a> <a href=""https://www.omim.org/entry/156550"">156550</a> <a href=""https://www.omim.org/entry/609162"">609162</a> <a href=""https://www.omim.org/entry/183900"">183900</a> <a href=""https://www.omim.org/entry/616583"">616583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12453309"">12453309</a>
 著者        Reginato AM, Olsen BR
 タイトル      The role of structural genes in the pathogenesis of osteoarthritic disorders.
 雑誌        Arthritis Res 4:337-45 (2002)
 DOI:<a href=""https://doi.org/10.1186/ar595"">10.1186/ar595</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8791509"">8791509</a>
 著者        Francomano CA, McIntosh I, Wilkin DJ
 タイトル      Bone dysplasias in man: molecular insights.
 雑誌        Curr Opin Genet Dev 6:301-8 (1996)
 DOI:<a href=""https://doi.org/10.1016/S0959-437X(96)80006-2"">10.1016/S0959-437X(96)80006-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21332586"">21332586</a>
 著者        Kannu P, Bateman J, Savarirayan R
 タイトル      Clinical phenotypes associated with type II collagen mutations.
 雑誌        J Paediatr Child Health 48:E38-43 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1754.2010.01979.x"">10.1111/j.1440-1754.2010.01979.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15643621"">15643621</a>
 著者        Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A
 タイトル      Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
 雑誌        Am J Med Genet A 133A:61-7 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30531"">10.1002/ajmg.a.30531</a>"
H00521,鎖骨頭蓋異形成症,,,"Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease.",先天奇形,,RUNX2 [HSA:860] [KO:K09278],,,,,,"ICD-11: LD24.2Y
 ICD-10: Q74.0
 MeSH: D002973
 OMIM: 119600","PMID:8782054
 著者        Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P
 タイトル      Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
 雑誌        J Med Genet 33:511-4 (1996)
 DOI:10.1136/jmg.33.6.511
 PMID:20648631
 著者        Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E
 タイトル      Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
 雑誌        Hum Mutat 31:E1587-93 (2010)
 DOI:10.1002/humu.21298
 PMID:15952089
 著者        Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D
 タイトル      Dysregulation of chondrogenesis in human cleidocranial dysplasia.
 雑誌        Am J Hum Genet 77:305-12 (2005)
 DOI:10.1086/432261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00521"">H00521</a>",鎖骨頭蓋異形成症,"Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease.",,"RUNX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:860"">860</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09278"">K09278</a>]",,,,,,"ICD-11: LD24.2Y
 ICD-10: Q74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002973"">D002973</a>
 OMIM: <a href=""https://www.omim.org/entry/119600"">119600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8782054"">8782054</a>
 著者        Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P
 タイトル      Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
 雑誌        J Med Genet 33:511-4 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.6.511"">10.1136/jmg.33.6.511</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20648631"">20648631</a>
 著者        Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E
 タイトル      Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
 雑誌        Hum Mutat 31:E1587-93 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21298"">10.1002/humu.21298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15952089"">15952089</a>
 著者        Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D
 タイトル      Dysregulation of chondrogenesis in human cleidocranial dysplasia.
 雑誌        Am J Hum Genet 77:305-12 (2005)
 DOI:<a href=""https://doi.org/10.1086/432261"">10.1086/432261</a>"
H00522,"短体幹症
 下位グループ    常染色体優性型短体幹症
 Pakistani 型脊椎骨幹端異形成症 [DS:H00761]",,,"Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).",骨系統疾患,,"(BCYM3) TRPV4 [HSA:59341] [KO:K04973]
 (BCYM4) PAPSS2 [HSA:9060] [KO:K13811]",,,,,,"ICD-11: LD24.5Y
 ICD-10: Q76.3
 MeSH: C537098
 OMIM: 271530 113500 612847","PMID:2669482
 著者        Shohat M, Lachman R, Gruber HE, Rimoin DL
 タイトル      Brachyolmia: radiographic and genetic evidence of heterogeneity.
 雑誌        Am J Med Genet 33:209-19 (1989)
 DOI:10.1002/ajmg.1320330214
 PMID:24677493
 著者        Grigelioniene G, Geiberger S, Horemuzova E, Mostrom E, Jantti N, Neumeyer L, Astrom E, Nordenskjold M, Nordgren A, Makitie O
 タイトル      Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
 雑誌        Am J Med Genet A 164A:1635-41 (2014)
 DOI:10.1002/ajmg.a.36502
 PMID:22791835
 著者        Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
 タイトル      PAPSS2 mutations cause autosomal recessive brachyolmia.
 雑誌        J Med Genet 49:533-8 (2012)
 DOI:10.1136/jmedgenet-2012-101039","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00522"">H00522</a>","短体幹症
 下位グループ    常染色体優性型短体幹症
 Pakistani 型脊椎骨幹端異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00761"">H00761</a>]","Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).",,"(BCYM3) TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]
 (BCYM4) PAPSS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9060"">9060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13811"">K13811</a>]",,,,,,"ICD-11: LD24.5Y
 ICD-10: Q76.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537098"">C537098</a>
 OMIM: <a href=""https://www.omim.org/entry/271530"">271530</a> <a href=""https://www.omim.org/entry/113500"">113500</a> <a href=""https://www.omim.org/entry/612847"">612847</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2669482"">2669482</a>
 著者        Shohat M, Lachman R, Gruber HE, Rimoin DL
 タイトル      Brachyolmia: radiographic and genetic evidence of heterogeneity.
 雑誌        Am J Med Genet 33:209-19 (1989)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320330214"">10.1002/ajmg.1320330214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24677493"">24677493</a>
 著者        Grigelioniene G, Geiberger S, Horemuzova E, Mostrom E, Jantti N, Neumeyer L, Astrom E, Nordenskjold M, Nordgren A, Makitie O
 タイトル      Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
 雑誌        Am J Med Genet A 164A:1635-41 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36502"">10.1002/ajmg.a.36502</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22791835"">22791835</a>
 著者        Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
 タイトル      PAPSS2 mutations cause autosomal recessive brachyolmia.
 雑誌        J Med Genet 49:533-8 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101039"">10.1136/jmedgenet-2012-101039</a>"
H00523,"ヌーナン症候群類縁疾患
 下位グループ    ヌーナン症候群 (NS) [DS:H01738]
 レオパード症候群 (LPRD) [DS:H01984]
 CFC 症候群 [DS:H01745]
 コステロ症候群 [DS:H01747]
 神経線維腫性ヌーナン症候群 (NFNS) [DS:H02189]
 成長期脱毛を伴うヌーナン様症候群 (NSLH) [DS:H02191]
 CBL 症候群 [DS:H02190]",,,"Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway, and are called RASopathies.",先天奇形,,"(NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
 (NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
 (NS4) SOS1 [HSA:6654] [KO:K03099]
 (NS5/LPRD2) RAF1 [HSA:369] [KO:K08845]
 (NS6) NRAS [HSA:4893] [KO:K07828]
 (NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
 (NS8) RIT1 [HSA:6016] [KO:K07832]
 (NS9) SOS2 [HSA:6655] [KO:K03099]
 (NS10) LZTR1 [HSA:8216] [KO:K23330]
 (CFC3) MAP2K1 [HSA:5604] [KO:K04368]
 (CFC4) MAP2K2 [HSA:5605] [KO:K04369]
 (CS) HRAS [HSA:3265] [KO:K02833]
 (NFNS) NF1 [HSA:4763] [KO:K08052]
 (NSLH1) SHOC2 [HSA:8036] [KO:K19613]
 (NSLH2) PPP1CB [HSA:5500] [KO:K06269]
 (CBL) CBL [HSA:867] [KO:K04707]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: D009634 D044542 D056685
 OMIM: 163950 151100 115150 218040 601321 607721 613563","PMID:21396583
 著者        Tartaglia M, Gelb BD, Zenker M
 タイトル      Noonan syndrome and clinically related disorders.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
 DOI:10.1016/j.beem.2010.09.002
 PMID:8317503
 著者        Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
 タイトル      Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
 雑誌        Am J Hum Genet 53:90-5 (1993)
 PMID:23791108
 著者        Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
 タイトル      Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
 雑誌        Am J Hum Genet 93:173-80 (2013)
 DOI:10.1016/j.ajhg.2013.05.021
 PMID:23875798
 著者        Rauen KA
 タイトル      The RASopathies.
 雑誌        Annu Rev Genomics Hum Genet 14:355-69 (2013)
 DOI:10.1146/annurev-genom-091212-153523
 PMID:23312968
 著者        Roberts AE, Allanson JE, Tartaglia M, Gelb BD
 タイトル      Noonan syndrome.
 雑誌        Lancet 381:333-42 (2013)
 DOI:10.1016/S0140-6736(12)61023-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>","ヌーナン症候群類縁疾患
 下位グループ    ヌーナン症候群 (NS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01738"">H01738</a>]
 レオパード症候群 (LPRD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01984"">H01984</a>]
 CFC 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01745"">H01745</a>]
 コステロ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01747"">H01747</a>]
 神経線維腫性ヌーナン症候群 (NFNS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02189"">H02189</a>]
 成長期脱毛を伴うヌーナン様症候群 (NSLH) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02191"">H02191</a>]
 CBL 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02190"">H02190</a>]","Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway, and are called RASopathies.",,"(NS1/LPRD1) PTPN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]
 (NS3/CFC2) KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 (NS4) SOS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6654"">6654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03099"">K03099</a>]
 (NS5/LPRD2) RAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:369"">369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08845"">K08845</a>]
 (NS6) NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 (NS7/LPRD3/CFC1) BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 (NS8) RIT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6016"">6016</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07832"">K07832</a>]
 (NS9) SOS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6655"">6655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03099"">K03099</a>]
 (NS10) LZTR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8216"">8216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23330"">K23330</a>]
 (CFC3) MAP2K1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5604"">5604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04368"">K04368</a>]
 (CFC4) MAP2K2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5605"">5605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04369"">K04369</a>]
 (CS) HRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 (NFNS) NF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]
 (NSLH1) SHOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8036"">8036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19613"">K19613</a>]
 (NSLH2) PPP1CB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5500"">5500</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06269"">K06269</a>]
 (CBL) CBL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009634"">D009634</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D044542"">D044542</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056685"">D056685</a>
 OMIM: <a href=""https://www.omim.org/entry/163950"">163950</a> <a href=""https://www.omim.org/entry/151100"">151100</a> <a href=""https://www.omim.org/entry/115150"">115150</a> <a href=""https://www.omim.org/entry/218040"">218040</a> <a href=""https://www.omim.org/entry/601321"">601321</a> <a href=""https://www.omim.org/entry/607721"">607721</a> <a href=""https://www.omim.org/entry/613563"">613563</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21396583"">21396583</a>
 著者        Tartaglia M, Gelb BD, Zenker M
 タイトル      Noonan syndrome and clinically related disorders.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2010.09.002"">10.1016/j.beem.2010.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8317503"">8317503</a>
 著者        Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
 タイトル      Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
 雑誌        Am J Hum Genet 53:90-5 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23791108"">23791108</a>
 著者        Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
 タイトル      Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
 雑誌        Am J Hum Genet 93:173-80 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.021"">10.1016/j.ajhg.2013.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23875798"">23875798</a>
 著者        Rauen KA
 タイトル      The RASopathies.
 雑誌        Annu Rev Genomics Hum Genet 14:355-69 (2013)
 DOI:<a href=""https://doi.org/10.1146/annurev-genom-091212-153523"">10.1146/annurev-genom-091212-153523</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23312968"">23312968</a>
 著者        Roberts AE, Allanson JE, Tartaglia M, Gelb BD
 タイトル      Noonan syndrome.
 雑誌        Lancet 381:333-42 (2013)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(12)61023-X"">10.1016/S0140-6736(12)61023-X</a>"
H00524,肩甲腓骨脊髄筋萎縮症,,,Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders.,神経系疾患,,TRPV4 [HSA:59341] [KO:K04973],,,,,,"ICD-11: 8B61.4
 ICD-10: G12.1
 OMIM: 181405","PMID:20505684
 著者        Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S
 タイトル      TRPV4-pathy, a novel channelopathy affecting diverse systems.
 雑誌        J Hum Genet 55:400-2 (2010)
 DOI:10.1038/jhg.2010.37
 PMID:21454511
 著者        Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX
 タイトル      Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
 雑誌        J Biol Chem 286:17281-91 (2011)
 DOI:10.1074/jbc.M111.237685
 PMID:20460441
 著者        Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD
 タイトル      Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
 雑誌        Brain 133:1798-809 (2010)
 DOI:10.1093/brain/awq109","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00524"">H00524</a>",肩甲腓骨脊髄筋萎縮症,Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders.,,"TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]",,,,,,"ICD-11: 8B61.4
 ICD-10: G12.1
 OMIM: <a href=""https://www.omim.org/entry/181405"">181405</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20505684"">20505684</a>
 著者        Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S
 タイトル      TRPV4-pathy, a novel channelopathy affecting diverse systems.
 雑誌        J Hum Genet 55:400-2 (2010)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.37"">10.1038/jhg.2010.37</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21454511"">21454511</a>
 著者        Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX
 タイトル      Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
 雑誌        J Biol Chem 286:17281-91 (2011)
 DOI:<a href=""https://doi.org/10.1074/jbc.M111.237685"">10.1074/jbc.M111.237685</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20460441"">20460441</a>
 著者        Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD
 タイトル      Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
 雑誌        Brain 133:1798-809 (2010)
 DOI:<a href=""https://doi.org/10.1093/brain/awq109"">10.1093/brain/awq109</a>"
H00525,"ミトコンドリアの脂肪酸酸化異常症
 下位グループ    MCAD 欠損症 [DS:H00488]
 SCAD 欠損症 [DS:H01980]
 VLCAD 欠損症 [DS:H00392]
 MTP 欠損症 [DS:H01352]
 カルニチンパルミトイルトランスフェラーゼ I 欠損症 [DS:H01981]
 カルニチンパルミトイルトランスフェラーゼ II 欠損症 [DS:H01982]
 カルニチン-アシルカルニチントランスロカーゼ欠損症 [DS:H01983]
 全身性カルニチン欠乏症 [DS:H01589]
 HAD 欠損症 [DS:H01364]
 2,4-ジエノイル CoA レダクターゼ欠損症 [DS:H01929]
 ACAD9 欠損症 [DS:H02085]
 短鎖エノイル CoA ヒドラターゼ (ECHS1) 欠損症
 上位グループ    二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic pathway. The symptoms and treatment vary between different FAODs.,先天性代謝異常症,nt06020  beta-Oxidation in mitochondria,"(MCAD) ACADM [HSA:34] [KO:K00249]
 (SCAD) ACADS [HSA:35] [KO:K00248]
 (VLCAD) ACADVL [HSA:37] [KO:K09479]
 (MTP) HADHA [HSA:3030] [KO:K07515]
 (MTP) HADHB [HSA:3032] [KO:K07509]
 (CPT I) CPT1A [HSA:1374] [KO:K08765]
 (CPT II) CPT2 [HSA:1376] [KO:K08766]
 (CACT) SLC25A20 [HSA:788] [KO:K15109]
 (CDSP) SLC22A5 [HSA:6584] [KO:K08202]
 (HAD) HADH [HSA:3033] [KO:K00022]
 (DECR) NADK2 [HSA:133686] [KO:K00858]
 (ACAD9) ACAD9 [HSA:28976] [KO:K15980]
 (ECHS1) ECHS1 [HSA:1892] [KO:K07511]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: D008052
 OMIM: 201450 201470 610006 201475 609016 609015 608836 600649 255110 255120 212138 212140 231530 616034 611126 616277","PMID:18708005
 著者        Kompare M, Rizzo WB
 タイトル      Mitochondrial fatty-acid oxidation disorders.
 雑誌        Semin Pediatr Neurol 15:140-9 (2008)
 DOI:10.1016/j.spen.2008.05.008
 PMID:20049534
 著者        Wilcken B
 タイトル      Fatty acid oxidation disorders: outcome and long-term prognosis.
 雑誌        J Inherit Metab Dis 33:501-6 (2010)
 DOI:10.1007/s10545-009-9001-1
 PMID:20066495
 著者        Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E
 タイトル      Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
 雑誌        J Inherit Metab Dis 33:495-500 (2010)
 DOI:10.1007/s10545-009-9000-2
 PMID:17347912 (Marker)
 著者        Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF
 タイトル      Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
 雑誌        J Inherit Metab Dis 30:507-14 (2007)
 DOI:10.1007/s10545-007-0543-9
 PMID:15877203 (drug)
 著者        Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA
 タイトル      L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
 雑誌        J Inherit Metab Dis 28:141-52 (2005)
 DOI:10.1007/s10545-005-5262-5
 PMID:29575569
 著者        Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD
 タイトル      Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
 雑誌        Am J Med Genet A 176:1115-1127 (2018)
 DOI:10.1002/ajmg.a.38658","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>","ミトコンドリアの脂肪酸酸化異常症
 下位グループ    MCAD 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00488"">H00488</a>]
 SCAD 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01980"">H01980</a>]
 VLCAD 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00392"">H00392</a>]
 MTP 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01352"">H01352</a>]
 カルニチンパルミトイルトランスフェラーゼ I 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01981"">H01981</a>]
 カルニチンパルミトイルトランスフェラーゼ II 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01982"">H01982</a>]
 カルニチン-アシルカルニチントランスロカーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01983"">H01983</a>]
 全身性カルニチン欠乏症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01589"">H01589</a>]
 HAD 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01364"">H01364</a>]
 2,4-ジエノイル CoA レダクターゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01929"">H01929</a>]
 ACAD9 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02085"">H02085</a>]
 短鎖エノイル CoA ヒドラターゼ (ECHS1) 欠損症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic pathway. The symptoms and treatment vary between different FAODs.,"<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","(MCAD) ACADM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:34"">34</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00249"">K00249</a>]
 (SCAD) ACADS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:35"">35</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00248"">K00248</a>]
 (VLCAD) ACADVL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:37"">37</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09479"">K09479</a>]
 (MTP) HADHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3030"">3030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07515"">K07515</a>]
 (MTP) HADHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3032"">3032</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07509"">K07509</a>]
 (CPT I) CPT1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1374"">1374</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08765"">K08765</a>]
 (CPT II) CPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1376"">1376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08766"">K08766</a>]
 (CACT) SLC25A20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:788"">788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15109"">K15109</a>]
 (CDSP) SLC22A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6584"">6584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08202"">K08202</a>]
 (HAD) HADH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3033"">3033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00022"">K00022</a>]
 (DECR) NADK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:133686"">133686</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00858"">K00858</a>]
 (ACAD9) ACAD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28976"">28976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15980"">K15980</a>]
 (ECHS1) ECHS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1892"">1892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07511"">K07511</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008052"">D008052</a>
 OMIM: <a href=""https://www.omim.org/entry/201450"">201450</a> <a href=""https://www.omim.org/entry/201470"">201470</a> <a href=""https://www.omim.org/entry/610006"">610006</a> <a href=""https://www.omim.org/entry/201475"">201475</a> <a href=""https://www.omim.org/entry/609016"">609016</a> <a href=""https://www.omim.org/entry/609015"">609015</a> <a href=""https://www.omim.org/entry/608836"">608836</a> <a href=""https://www.omim.org/entry/600649"">600649</a> <a href=""https://www.omim.org/entry/255110"">255110</a> <a href=""https://www.omim.org/entry/255120"">255120</a> <a href=""https://www.omim.org/entry/212138"">212138</a> <a href=""https://www.omim.org/entry/212140"">212140</a> <a href=""https://www.omim.org/entry/231530"">231530</a> <a href=""https://www.omim.org/entry/616034"">616034</a> <a href=""https://www.omim.org/entry/611126"">611126</a> <a href=""https://www.omim.org/entry/616277"">616277</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708005"">18708005</a>
 著者        Kompare M, Rizzo WB
 タイトル      Mitochondrial fatty-acid oxidation disorders.
 雑誌        Semin Pediatr Neurol 15:140-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.008"">10.1016/j.spen.2008.05.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20049534"">20049534</a>
 著者        Wilcken B
 タイトル      Fatty acid oxidation disorders: outcome and long-term prognosis.
 雑誌        J Inherit Metab Dis 33:501-6 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10545-009-9001-1"">10.1007/s10545-009-9001-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20066495"">20066495</a>
 著者        Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E
 タイトル      Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
 雑誌        J Inherit Metab Dis 33:495-500 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10545-009-9000-2"">10.1007/s10545-009-9000-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17347912"">17347912</a> (Marker)
 著者        Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF
 タイトル      Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
 雑誌        J Inherit Metab Dis 30:507-14 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0543-9"">10.1007/s10545-007-0543-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15877203"">15877203</a> (drug)
 著者        Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA
 タイトル      L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
 雑誌        J Inherit Metab Dis 28:141-52 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10545-005-5262-5"">10.1007/s10545-005-5262-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29575569"">29575569</a>
 著者        Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD
 タイトル      Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
 雑誌        Am J Med Genet A 176:1115-1127 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38658"">10.1002/ajmg.a.38658</a>"
H00526,"屈指-関節症-内反股-心外膜炎症候群 (CACP);
 Jacobs 症候群",,,"The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions.",先天奇形,,PRG4 [HSA:10216] [KO:K24286],,,,,,"MeSH: C537560
 OMIM: 208250","PMID:12453309
 著者        Reginato AM, Olsen BR
 タイトル      The role of structural genes in the pathogenesis of osteoarthritic disorders.
 雑誌        Arthritis Res 4:337-45 (2002)
 DOI:10.1186/ar595
 PMID:15702367
 著者        Shayan K, Ho M, Edwards V, Laxer R, Thorner PS
 タイトル      Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
 雑誌        Pediatr Dev Pathol 8:26-33 (2005)
 DOI:10.1007/s10024-004-3035-z
 PMID:16429407
 著者        Alazami AM, Al-Mayouf SM, Wyngaard CA, Meyer B
 タイトル      Novel PRG4 mutations underlie CACP in Saudi families.
 雑誌        Hum Mutat 27:213 (2006)
 DOI:10.1002/humu.9399
 PMID:16037531
 著者        Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM
 タイトル      Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy.
 雑誌        AJR Am J Roentgenol 185:522-9 (2005)
 DOI:10.2214/ajr.185.2.01850522","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00526"">H00526</a>","屈指-関節症-内反股-心外膜炎症候群 (CACP);
 Jacobs 症候群","The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions.",,"PRG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10216"">10216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24286"">K24286</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537560"">C537560</a>
 OMIM: <a href=""https://www.omim.org/entry/208250"">208250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12453309"">12453309</a>
 著者        Reginato AM, Olsen BR
 タイトル      The role of structural genes in the pathogenesis of osteoarthritic disorders.
 雑誌        Arthritis Res 4:337-45 (2002)
 DOI:<a href=""https://doi.org/10.1186/ar595"">10.1186/ar595</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15702367"">15702367</a>
 著者        Shayan K, Ho M, Edwards V, Laxer R, Thorner PS
 タイトル      Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
 雑誌        Pediatr Dev Pathol 8:26-33 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10024-004-3035-z"">10.1007/s10024-004-3035-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16429407"">16429407</a>
 著者        Alazami AM, Al-Mayouf SM, Wyngaard CA, Meyer B
 タイトル      Novel PRG4 mutations underlie CACP in Saudi families.
 雑誌        Hum Mutat 27:213 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.9399"">10.1002/humu.9399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16037531"">16037531</a>
 著者        Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM
 タイトル      Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy.
 雑誌        AJR Am J Roentgenol 185:522-9 (2005)
 DOI:<a href=""https://doi.org/10.2214/ajr.185.2.01850522"">10.2214/ajr.185.2.01850522</a>"
H00527,網膜色素変性,,,"Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.",神経系疾患,,"(RP1) RP1 [HSA:6101] [KO:K19538]
 (RP2) RP2 [HSA:6102] [KO:K18272]
 (RP3/RP15) RPGR [HSA:6103] [KO:K19607]
 (RP4) RHO [HSA:6010] [KO:K04250]
 (RP7) PRPH2 [HSA:5961] [KO:K17343]
 (RP7) ROM1 [HSA:6094] [KO:K17344]
 (RP9) RP9 [HSA:6100] [KO:K19604]
 (RP10) IMPDH1 [HSA:3614] [KO:K00088]
 (RP11) PRPF31 [HSA:26121] [KO:K12844]
 (RP12) CRB1 [HSA:23418] [KO:K16681]
 (RP13) PRPF8 [HSA:10594] [KO:K12856]
 (RP14) TULP1 [HSA:7287] [KO:K19600]
 (RP17) CA4 [HSA:762] [KO:K18246]
 (RP18) PRPF3 [HSA:9129] [KO:K12843]
 (RP19) ABCA4 [HSA:24] [KO:K05644]
 (RP20/87) RPE65 [HSA:6121] [KO:K11158]
 (RP23) OFD1 [HSA:8481] [KO:K16480]
 (RP25) EYS [HSA:346007] [KO:K19601]
 (RP26) CERKL [HSA:375298] [KO:K19602]
 (RP27) NRL [HSA:4901] [KO:K09038]
 (RP28) FAM161A [HSA:84140] [KO:K16772]
 (RP30) FSCN2 [HSA:25794] [KO:K17455]
 (RP31) TOPORS [HSA:10210] [KO:K10631]
 (RP32) CLCC1 [HSA:23155] [KO:K22188]
 (RP33) SNRNP200 [HSA:23020] [KO:K12854]
 (RP35) SEMA4A [HSA:64218] [KO:K06521]
 (RP36) PRCD [HSA:768206] [KO:K19637]
 (RP37) NR2E3 [HSA:10002] [KO:K08546]
 (RP38) MERTK [HSA:10461] [KO:K05117]
 (RP39) USH2A [HSA:7399] [KO:K19636]
 (RP40) PDE6B [HSA:5158] [KO:K13756]
 (RP41) PROM1 [HSA:8842] [KO:K06532]
 (RP42) KLHL7 [HSA:55975] [KO:K10445]
 (RP43) PDE6A [HSA:5145] [KO:K08718]
 (RP44) RGR [HSA:5995] [KO:K04254]
 (RP45) CNGB1 [HSA:1258] [KO:K04952]
 (RP46) IDH3B [HSA:3420] [KO:K00030]
 (RP47) SAG [HSA:6295] [KO:K19627]
 (RP48) GUCA1B [HSA:2979] [KO:K08328]
 (RP49) CNGA1 [HSA:1259] [KO:K04948]
 (RP50) BEST1 [HSA:7439] [KO:K13878]
 (RP54) PCARE [HSA:388939] [KO:K24165]
 (RP55) ARL6 [HSA:84100] [KO:K07951]
 (RP56) IMPG2 [HSA:50939] [KO:K19017]
 (RP57) PDE6G [HSA:5148] [KO:K13759]
 (RP58) ZNF513 [HSA:130557] [KO:K24373]
 (RP59) DHDDS [HSA:79947] [KO:K11778]
 (RP60) PRPF6 [HSA:24148] [KO:K12855]
 (RP61) CLRN1 [HSA:7401] [KO:K23841]
 (RP62) MAK [HSA:4117] [KO:K08829]
 (RP64) CFAP418 [HSA:157657] [KO:K25226]
 (RP66) RBP3 [HSA:5949] [KO:K23911]
 (RP67) NEK2 [HSA:4751] [KO:K20872]
 (RP68) SLC7A14 [HSA:57709] [KO:K13871]
 (RP69) KIZ [HSA:55857] [KO:K16539]
 (RP70) PRPF4 [HSA:9128] [KO:K12662]
 (RP71) IFT172 [HSA:26160] [KO:K19676]
 (RP72) ZNF408 [HSA:79797] [KO:K24372]
 (RP73) HGSNAT [HSA:138050] [KO:K10532]
 (RP74) BBS2 [HSA:583] [KO:K16747]
 (RP75) AGBL5 [HSA:60509] [KO:K23438]
 (RP76) POMGNT1 [HSA:55624] [KO:K09666]
 (RP77) REEP6 [HSA:92840] [KO:K17279]
 (RP78) ARHGEF18 [HSA:23370] [KO:K21066]
 (RP79) HK1 [HSA:3098] [KO:K00844]
 (RP80) IFT140 [HSA:9742] [KO:K19672]
 (RP81) IFT43 [HSA:112752] [KO:K19675]
 (RP82) ARL2BP [HSA:23568] [KO:K16742]
 (RP83) ARL3 [HSA:403] [KO:K07944]
 (RP84) DHX38 [HSA:9785] [KO:K12815]
 (RP85) AHR [HSA:196] [KO:K09093]
 (RP86) RP86 [HSA:57670]
 (RP88) RP1L1 [HSA:94137] [KO:K19538]
 (RP89) KIF3B [HSA:9371] [KO:K20196]
 (RP90) IDH3A [HSA:3419] [KO:K00030]
 (Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]",,,,ヘレニエン [DR:D01031],,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D012174
 OMIM: 268000 180100 312600 300029 300455 613731 608133 180104 180105 600138 600105 600059 600132 600852 601414 601718 613794 300424 602772 608380 613750 606068 607921 609923 609913 610359 610282 610599 611131 613862 613809 613801 612095 612943 613810 613769 613767 612572 613758 613827 613756 613194 613464 613428 613575 613581 613582 613617 613861 613983 614180 614181 614500 615565 615725 615780 615922 616394 616469 616544 616562 617023 617123 617304 617433 617460 617781 617871 615434 618173 618220 618345 618613 618697 618826 618955 607475 619007","PMID:17296890 (RP1-30)
 著者        Daiger SP, Bowne SJ, Sullivan LS
 タイトル      Perspective on genes and mutations causing retinitis pigmentosa.
 雑誌        Arch Ophthalmol 125:151-8 (2007)
 DOI:10.1001/archopht.125.2.151
 PMID:15563868 (RP14-39)
 著者        Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP
 タイトル      Gene mutations in retinitis pigmentosa and their clinical implications.
 雑誌        Clin Chim Acta 351:5-16 (2005)
 DOI:10.1016/j.cccn.2004.08.004
 PMID:10889272 (RP39-49)
 著者        Phelan JK, Bok D
 タイトル      A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.
 雑誌        Mol Vis 6:116-24 (2000)
 PMID:21549338 (RP9_11_13_33_60)
 著者        Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C
 タイトル      A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
 雑誌        Am J Hum Genet 88:643-9 (2011)
 DOI:10.1016/j.ajhg.2011.04.008
 PMID:19956407 (RP12_55)
 著者        Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS
 タイトル      Molecular characterization of retinitis pigmentosa in Saudi Arabia.
 雑誌        Mol Vis 15:2464-9 (2009)
 PMID:19853238 (RP50)
 著者        Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD
 タイトル      Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
 雑誌        Am J Hum Genet 85:581-92 (2009)
 DOI:10.1016/j.ajhg.2009.09.015
 PMID:20398884 (RP54)
 著者        Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T
 タイトル      Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
 雑誌        Am J Hum Genet 86:783-8 (2010)
 DOI:10.1016/j.ajhg.2010.03.016
 PMID:21295282 (RP59)
 著者        Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D
 タイトル      A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
 雑誌        Am J Hum Genet 88:207-15 (2011)
 DOI:10.1016/j.ajhg.2011.01.002
 PMID:21835304 (RP62)
 著者        Ozgul RK, Siemiatkowska AM, Yucel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC
 タイトル      Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
 雑誌        Am J Hum Genet 89:253-64 (2011)
 DOI:10.1016/j.ajhg.2011.07.005
 PMID:25802487 (RP64)
 著者        Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M
 タイトル      Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
 雑誌        Mol Vis 21:236-43 (2015)
 PMID:24670872 (RP68)
 著者        Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J
 タイトル      SLC7A14 linked to autosomal recessive retinitis pigmentosa.
 雑誌        Nat Commun 5:3517 (2014)
 DOI:10.1038/ncomms4517
 PMID:25168386 (RP69_71)
 著者        Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA
 タイトル      Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 24:230-42 (2015)
 DOI:10.1093/hmg/ddu441
 PMID:27889058 (RP77)
 著者        Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R
 タイトル      Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
 雑誌        Am J Hum Genet 99:1305-1315 (2016)
 DOI:10.1016/j.ajhg.2016.10.008
 PMID:28132693 (RP78)
 著者        Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR
 タイトル      Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
 雑誌        Am J Hum Genet 100:334-342 (2017)
 DOI:10.1016/j.ajhg.2016.12.014
 PMID:25190649 (RP79)
 著者        Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP
 タイトル      A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
 雑誌        Invest Ophthalmol Vis Sci 55:7147-58 (2014)
 DOI:10.1167/iovs.14-15419
 PMID:26968735 (RP80)
 著者        Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT
 タイトル      Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
 雑誌        Invest Ophthalmol Vis Sci 57:1053-62 (2016)
 DOI:10.1167/iovs.15-17976
 PMID:30208423 (RP84)
 著者        Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM
 タイトル      Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
 雑誌        Invest Ophthalmol Vis Sci 59:4552-4557 (2018)
 DOI:10.1167/iovs.18-23849
 PMID:30025130 (RP88)
 著者        Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S
 タイトル      Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
 雑誌        Invest Ophthalmol Vis Sci 59:3041-3052 (2018)
 DOI:10.1167/iovs.18-24033
 PMID:28412069 (RP90)
 著者        Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM
 タイトル      Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
 雑誌        Ophthalmology 124:992-1003 (2017)
 DOI:10.1016/j.ophtha.2017.03.010
 PMID:11176989 (Bothnia retinal dystrophy)
 著者        Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O
 タイトル      Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
 雑誌        Arch Ophthalmol 119:260-7 (2001)
 PMID:25541840 (RP74)
 著者        Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D
 タイトル      Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
 雑誌        JAMA Ophthalmol 133:312-8 (2015)
 DOI:10.1001/jamaophthalmol.2014.5251","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00527"">H00527</a>",網膜色素変性,"Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.",,"(RP1) RP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6101"">6101</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19538"">K19538</a>]
 (RP2) RP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6102"">6102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18272"">K18272</a>]
 (RP3/RP15) RPGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6103"">6103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19607"">K19607</a>]
 (RP4) RHO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6010"">6010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04250"">K04250</a>]
 (RP7) PRPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5961"">5961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17343"">K17343</a>]
 (RP7) ROM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6094"">6094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17344"">K17344</a>]
 (RP9) RP9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6100"">6100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19604"">K19604</a>]
 (RP10) IMPDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3614"">3614</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00088"">K00088</a>]
 (RP11) PRPF31 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26121"">26121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12844"">K12844</a>]
 (RP12) CRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23418"">23418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16681"">K16681</a>]
 (RP13) PRPF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10594"">10594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12856"">K12856</a>]
 (RP14) TULP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7287"">7287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19600"">K19600</a>]
 (RP17) CA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:762"">762</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18246"">K18246</a>]
 (RP18) PRPF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9129"">9129</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12843"">K12843</a>]
 (RP19) ABCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24"">24</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05644"">K05644</a>]
 (RP20/87) RPE65 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6121"">6121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11158"">K11158</a>]
 (RP23) OFD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8481"">8481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16480"">K16480</a>]
 (RP25) EYS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:346007"">346007</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19601"">K19601</a>]
 (RP26) CERKL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375298"">375298</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19602"">K19602</a>]
 (RP27) NRL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4901"">4901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09038"">K09038</a>]
 (RP28) FAM161A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84140"">84140</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16772"">K16772</a>]
 (RP30) FSCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25794"">25794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17455"">K17455</a>]
 (RP31) TOPORS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10210"">10210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10631"">K10631</a>]
 (RP32) CLCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23155"">23155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22188"">K22188</a>]
 (RP33) SNRNP200 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23020"">23020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12854"">K12854</a>]
 (RP35) SEMA4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64218"">64218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06521"">K06521</a>]
 (RP36) PRCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:768206"">768206</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19637"">K19637</a>]
 (RP37) NR2E3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10002"">10002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08546"">K08546</a>]
 (RP38) MERTK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10461"">10461</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05117"">K05117</a>]
 (RP39) USH2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7399"">7399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19636"">K19636</a>]
 (RP40) PDE6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5158"">5158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13756"">K13756</a>]
 (RP41) PROM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8842"">8842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06532"">K06532</a>]
 (RP42) KLHL7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55975"">55975</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10445"">K10445</a>]
 (RP43) PDE6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5145"">5145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08718"">K08718</a>]
 (RP44) RGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5995"">5995</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04254"">K04254</a>]
 (RP45) CNGB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1258"">1258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04952"">K04952</a>]
 (RP46) IDH3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3420"">3420</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00030"">K00030</a>]
 (RP47) SAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6295"">6295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19627"">K19627</a>]
 (RP48) GUCA1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2979"">2979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08328"">K08328</a>]
 (RP49) CNGA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1259"">1259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04948"">K04948</a>]
 (RP50) BEST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7439"">7439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13878"">K13878</a>]
 (RP54) PCARE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388939"">388939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24165"">K24165</a>]
 (RP55) ARL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84100"">84100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07951"">K07951</a>]
 (RP56) IMPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50939"">50939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19017"">K19017</a>]
 (RP57) PDE6G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5148"">5148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13759"">K13759</a>]
 (RP58) ZNF513 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:130557"">130557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24373"">K24373</a>]
 (RP59) DHDDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79947"">79947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11778"">K11778</a>]
 (RP60) PRPF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24148"">24148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12855"">K12855</a>]
 (RP61) CLRN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7401"">7401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23841"">K23841</a>]
 (RP62) MAK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4117"">4117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08829"">K08829</a>]
 (RP64) CFAP418 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157657"">157657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25226"">K25226</a>]
 (RP66) RBP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5949"">5949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23911"">K23911</a>]
 (RP67) NEK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4751"">4751</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20872"">K20872</a>]
 (RP68) SLC7A14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57709"">57709</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13871"">K13871</a>]
 (RP69) KIZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55857"">55857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16539"">K16539</a>]
 (RP70) PRPF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9128"">9128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12662"">K12662</a>]
 (RP71) IFT172 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26160"">26160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19676"">K19676</a>]
 (RP72) ZNF408 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79797"">79797</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24372"">K24372</a>]
 (RP73) HGSNAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:138050"">138050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10532"">K10532</a>]
 (RP74) BBS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:583"">583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16747"">K16747</a>]
 (RP75) AGBL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60509"">60509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23438"">K23438</a>]
 (RP76) POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 (RP77) REEP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92840"">92840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17279"">K17279</a>]
 (RP78) ARHGEF18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23370"">23370</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21066"">K21066</a>]
 (RP79) HK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3098"">3098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00844"">K00844</a>]
 (RP80) IFT140 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9742"">9742</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19672"">K19672</a>]
 (RP81) IFT43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112752"">112752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19675"">K19675</a>]
 (RP82) ARL2BP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23568"">23568</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16742"">K16742</a>]
 (RP83) ARL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:403"">403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07944"">K07944</a>]
 (RP84) DHX38 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9785"">9785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12815"">K12815</a>]
 (RP85) AHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:196"">196</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09093"">K09093</a>]
 (RP86) RP86 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57670"">57670</a>]
 (RP88) RP1L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94137"">94137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19538"">K19538</a>]
 (RP89) KIF3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9371"">9371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20196"">K20196</a>]
 (RP90) IDH3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3419"">3419</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00030"">K00030</a>]
 (Bothnia retinal dystrophy) RLBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6017"">6017</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19625"">K19625</a>]",,,,"ヘレニエン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01031"">D01031</a>]",,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012174"">D012174</a>
 OMIM: <a href=""https://www.omim.org/entry/268000"">268000</a> <a href=""https://www.omim.org/entry/180100"">180100</a> <a href=""https://www.omim.org/entry/312600"">312600</a> <a href=""https://www.omim.org/entry/300029"">300029</a> <a href=""https://www.omim.org/entry/300455"">300455</a> <a href=""https://www.omim.org/entry/613731"">613731</a> <a href=""https://www.omim.org/entry/608133"">608133</a> <a href=""https://www.omim.org/entry/180104"">180104</a> <a href=""https://www.omim.org/entry/180105"">180105</a> <a href=""https://www.omim.org/entry/600138"">600138</a> <a href=""https://www.omim.org/entry/600105"">600105</a> <a href=""https://www.omim.org/entry/600059"">600059</a> <a href=""https://www.omim.org/entry/600132"">600132</a> <a href=""https://www.omim.org/entry/600852"">600852</a> <a href=""https://www.omim.org/entry/601414"">601414</a> <a href=""https://www.omim.org/entry/601718"">601718</a> <a href=""https://www.omim.org/entry/613794"">613794</a> <a href=""https://www.omim.org/entry/300424"">300424</a> <a href=""https://www.omim.org/entry/602772"">602772</a> <a href=""https://www.omim.org/entry/608380"">608380</a> <a href=""https://www.omim.org/entry/613750"">613750</a> <a href=""https://www.omim.org/entry/606068"">606068</a> <a href=""https://www.omim.org/entry/607921"">607921</a> <a href=""https://www.omim.org/entry/609923"">609923</a> <a href=""https://www.omim.org/entry/609913"">609913</a> <a href=""https://www.omim.org/entry/610359"">610359</a> <a href=""https://www.omim.org/entry/610282"">610282</a> <a href=""https://www.omim.org/entry/610599"">610599</a> <a href=""https://www.omim.org/entry/611131"">611131</a> <a href=""https://www.omim.org/entry/613862"">613862</a> <a href=""https://www.omim.org/entry/613809"">613809</a> <a href=""https://www.omim.org/entry/613801"">613801</a> <a href=""https://www.omim.org/entry/612095"">612095</a> <a href=""https://www.omim.org/entry/612943"">612943</a> <a href=""https://www.omim.org/entry/613810"">613810</a> <a href=""https://www.omim.org/entry/613769"">613769</a> <a href=""https://www.omim.org/entry/613767"">613767</a> <a href=""https://www.omim.org/entry/612572"">612572</a> <a href=""https://www.omim.org/entry/613758"">613758</a> <a href=""https://www.omim.org/entry/613827"">613827</a> <a href=""https://www.omim.org/entry/613756"">613756</a> <a href=""https://www.omim.org/entry/613194"">613194</a> <a href=""https://www.omim.org/entry/613464"">613464</a> <a href=""https://www.omim.org/entry/613428"">613428</a> <a href=""https://www.omim.org/entry/613575"">613575</a> <a href=""https://www.omim.org/entry/613581"">613581</a> <a href=""https://www.omim.org/entry/613582"">613582</a> <a href=""https://www.omim.org/entry/613617"">613617</a> <a href=""https://www.omim.org/entry/613861"">613861</a> <a href=""https://www.omim.org/entry/613983"">613983</a> <a href=""https://www.omim.org/entry/614180"">614180</a> <a href=""https://www.omim.org/entry/614181"">614181</a> <a href=""https://www.omim.org/entry/614500"">614500</a> <a href=""https://www.omim.org/entry/615565"">615565</a> <a href=""https://www.omim.org/entry/615725"">615725</a> <a href=""https://www.omim.org/entry/615780"">615780</a> <a href=""https://www.omim.org/entry/615922"">615922</a> <a href=""https://www.omim.org/entry/616394"">616394</a> <a href=""https://www.omim.org/entry/616469"">616469</a> <a href=""https://www.omim.org/entry/616544"">616544</a> <a href=""https://www.omim.org/entry/616562"">616562</a> <a href=""https://www.omim.org/entry/617023"">617023</a> <a href=""https://www.omim.org/entry/617123"">617123</a> <a href=""https://www.omim.org/entry/617304"">617304</a> <a href=""https://www.omim.org/entry/617433"">617433</a> <a href=""https://www.omim.org/entry/617460"">617460</a> <a href=""https://www.omim.org/entry/617781"">617781</a> <a href=""https://www.omim.org/entry/617871"">617871</a> <a href=""https://www.omim.org/entry/615434"">615434</a> <a href=""https://www.omim.org/entry/618173"">618173</a> <a href=""https://www.omim.org/entry/618220"">618220</a> <a href=""https://www.omim.org/entry/618345"">618345</a> <a href=""https://www.omim.org/entry/618613"">618613</a> <a href=""https://www.omim.org/entry/618697"">618697</a> <a href=""https://www.omim.org/entry/618826"">618826</a> <a href=""https://www.omim.org/entry/618955"">618955</a> <a href=""https://www.omim.org/entry/607475"">607475</a> <a href=""https://www.omim.org/entry/619007"">619007</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17296890"">17296890</a> (RP1-30)
 著者        Daiger SP, Bowne SJ, Sullivan LS
 タイトル      Perspective on genes and mutations causing retinitis pigmentosa.
 雑誌        Arch Ophthalmol 125:151-8 (2007)
 DOI:<a href=""https://doi.org/10.1001/archopht.125.2.151"">10.1001/archopht.125.2.151</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15563868"">15563868</a> (RP14-39)
 著者        Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP
 タイトル      Gene mutations in retinitis pigmentosa and their clinical implications.
 雑誌        Clin Chim Acta 351:5-16 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.cccn.2004.08.004"">10.1016/j.cccn.2004.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10889272"">10889272</a> (RP39-49)
 著者        Phelan JK, Bok D
 タイトル      A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.
 雑誌        Mol Vis 6:116-24 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21549338"">21549338</a> (RP9_11_13_33_60)
 著者        Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C
 タイトル      A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
 雑誌        Am J Hum Genet 88:643-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.008"">10.1016/j.ajhg.2011.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19956407"">19956407</a> (RP12_55)
 著者        Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS
 タイトル      Molecular characterization of retinitis pigmentosa in Saudi Arabia.
 雑誌        Mol Vis 15:2464-9 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19853238"">19853238</a> (RP50)
 著者        Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD
 タイトル      Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
 雑誌        Am J Hum Genet 85:581-92 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.015"">10.1016/j.ajhg.2009.09.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20398884"">20398884</a> (RP54)
 著者        Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T
 タイトル      Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
 雑誌        Am J Hum Genet 86:783-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.03.016"">10.1016/j.ajhg.2010.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21295282"">21295282</a> (RP59)
 著者        Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D
 タイトル      A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
 雑誌        Am J Hum Genet 88:207-15 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.01.002"">10.1016/j.ajhg.2011.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21835304"">21835304</a> (RP62)
 著者        Ozgul RK, Siemiatkowska AM, Yucel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC
 タイトル      Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
 雑誌        Am J Hum Genet 89:253-64 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.005"">10.1016/j.ajhg.2011.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25802487"">25802487</a> (RP64)
 著者        Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M
 タイトル      Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
 雑誌        Mol Vis 21:236-43 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24670872"">24670872</a> (RP68)
 著者        Jin ZB, Huang XF, Lv JN, Xiang L, Li DQ, Chen J, Huang C, Wu J, Lu F, Qu J
 タイトル      SLC7A14 linked to autosomal recessive retinitis pigmentosa.
 雑誌        Nat Commun 5:3517 (2014)
 DOI:<a href=""https://doi.org/10.1038/ncomms4517"">10.1038/ncomms4517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25168386"">25168386</a> (RP69_71)
 著者        Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA
 タイトル      Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
 雑誌        Hum Mol Genet 24:230-42 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu441"">10.1093/hmg/ddu441</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27889058"">27889058</a> (RP77)
 著者        Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R
 タイトル      Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
 雑誌        Am J Hum Genet 99:1305-1315 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.10.008"">10.1016/j.ajhg.2016.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28132693"">28132693</a> (RP78)
 著者        Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR
 タイトル      Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
 雑誌        Am J Hum Genet 100:334-342 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.12.014"">10.1016/j.ajhg.2016.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25190649"">25190649</a> (RP79)
 著者        Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP
 タイトル      A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
 雑誌        Invest Ophthalmol Vis Sci 55:7147-58 (2014)
 DOI:<a href=""https://doi.org/10.1167/iovs.14-15419"">10.1167/iovs.14-15419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26968735"">26968735</a> (RP80)
 著者        Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT
 タイトル      Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
 雑誌        Invest Ophthalmol Vis Sci 57:1053-62 (2016)
 DOI:<a href=""https://doi.org/10.1167/iovs.15-17976"">10.1167/iovs.15-17976</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30208423"">30208423</a> (RP84)
 著者        Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM
 タイトル      Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
 雑誌        Invest Ophthalmol Vis Sci 59:4552-4557 (2018)
 DOI:<a href=""https://doi.org/10.1167/iovs.18-23849"">10.1167/iovs.18-23849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30025130"">30025130</a> (RP88)
 著者        Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S
 タイトル      Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
 雑誌        Invest Ophthalmol Vis Sci 59:3041-3052 (2018)
 DOI:<a href=""https://doi.org/10.1167/iovs.18-24033"">10.1167/iovs.18-24033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28412069"">28412069</a> (RP90)
 著者        Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM
 タイトル      Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
 雑誌        Ophthalmology 124:992-1003 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2017.03.010"">10.1016/j.ophtha.2017.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11176989"">11176989</a> (Bothnia <a href=""https://pubmed.ncbi.nlm.nih.gov/retinal"">retinal</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/dystrophy)"">dystrophy)</a>
 著者        Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O
 タイトル      Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
 雑誌        Arch Ophthalmol 119:260-7 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25541840"">25541840</a> (RP74)
 著者        Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D
 タイトル      Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
 雑誌        JAMA Ophthalmol 133:312-8 (2015)
 DOI:<a href=""https://doi.org/10.1001/jamaophthalmol.2014.5251"">10.1001/jamaophthalmol.2014.5251</a>"
H00528,"前頭鼻異形成
 下位グループ    Frontorhiny [DS:H00850]",,,"Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose.",先天奇形,,"(FND1) ALX3 [HSA:257] [KO:K09323]
 (FND2) ALX4 [HSA:60529] [KO:K09451]
 (FND3) ALX1 [HSA:8092] [KO:K09334]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: C538065
 OMIM: 136760 613451 613456","PMID:21108387
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:10.1002/ajmg.a.33727
 PMID:21285785
 著者        Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S
 タイトル      The spectrum of median craniofacial dysplasia.
 雑誌        Plast Reconstr Surg 127:812-21 (2011)
 DOI:10.1097/PRS.0b013e318200aa08
 PMID:20451171
 著者        Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA
 タイトル      Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.
 雑誌        Am J Hum Genet 86:789-96 (2010)
 DOI:10.1016/j.ajhg.2010.04.002
 PMID:19409524
 著者        Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO
 タイトル      Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
 雑誌        Am J Hum Genet 84:698-705 (2009)
 DOI:10.1016/j.ajhg.2009.04.009
 PMID:19692347
 著者        Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA
 タイトル      ALX4 dysfunction disrupts craniofacial and epidermal development.
 雑誌        Hum Mol Genet 18:4357-66 (2009)
 DOI:10.1093/hmg/ddp391","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00528"">H00528</a>","前頭鼻異形成
 下位グループ    Frontorhiny [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00850"">H00850</a>]","Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose.",,"(FND1) ALX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:257"">257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09323"">K09323</a>]
 (FND2) ALX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60529"">60529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09451"">K09451</a>]
 (FND3) ALX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8092"">8092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09334"">K09334</a>]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538065"">C538065</a>
 OMIM: <a href=""https://www.omim.org/entry/136760"">136760</a> <a href=""https://www.omim.org/entry/613451"">613451</a> <a href=""https://www.omim.org/entry/613456"">613456</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21108387"">21108387</a>
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33727"">10.1002/ajmg.a.33727</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21285785"">21285785</a>
 著者        Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S
 タイトル      The spectrum of median craniofacial dysplasia.
 雑誌        Plast Reconstr Surg 127:812-21 (2011)
 DOI:<a href=""https://doi.org/10.1097/PRS.0b013e318200aa08"">10.1097/PRS.0b013e318200aa08</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20451171"">20451171</a>
 著者        Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA
 タイトル      Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.
 雑誌        Am J Hum Genet 86:789-96 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.002"">10.1016/j.ajhg.2010.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19409524"">19409524</a>
 著者        Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO
 タイトル      Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
 雑誌        Am J Hum Genet 84:698-705 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.009"">10.1016/j.ajhg.2009.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19692347"">19692347</a>
 著者        Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA
 タイトル      ALX4 dysfunction disrupts craniofacial and epidermal development.
 雑誌        Hum Mol Genet 18:4357-66 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp391"">10.1093/hmg/ddp391</a>"
H00529,頭蓋外胚葉性異形成症,,,"Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypodontia.",先天奇形,,"(CED1) IFT122 [HSA:55764] [KO:K19656]
 (CED2) WDR35 [HSA:57539] [KO:K19674]
 (CED3) IFT43 [HSA:112752] [KO:K19675]
 (CED4) WDR19 [HSA:57728] [KO:K19671]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.5
 MeSH: C562966
 OMIM: 218330 613610 614099 614378","PMID:21108387
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:10.1002/ajmg.a.33727
 PMID:19760621
 著者        Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E
 タイトル      Cranioectodermal dysplasia: a probable ciliopathy.
 雑誌        Am J Med Genet A 149A:2206-11 (2009)
 DOI:10.1002/ajmg.a.33013
 PMID:20493458 (IFT122)
 著者        Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW
 タイトル      Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
 雑誌        Am J Hum Genet 86:949-56 (2010)
 DOI:10.1016/j.ajhg.2010.04.012
 PMID:20817137 (WDR35)
 著者        Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG
 タイトル      Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
 雑誌        Am J Hum Genet 87:418-23 (2010)
 DOI:10.1016/j.ajhg.2010.08.004
 PMID:21378380 (IFT43)
 著者        Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R
 タイトル      C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
 雑誌        J Med Genet 48:390-5 (2011)
 DOI:10.1136/jmg.2011.088864
 PMID:22019273 (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:10.1016/j.ajhg.2011.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00529"">H00529</a>",頭蓋外胚葉性異形成症,"Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypodontia.",,"(CED1) IFT122 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55764"">55764</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19656"">K19656</a>]
 (CED2) WDR35 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57539"">57539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19674"">K19674</a>]
 (CED3) IFT43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112752"">112752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19675"">K19675</a>]
 (CED4) WDR19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57728"">57728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19671"">K19671</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562966"">C562966</a>
 OMIM: <a href=""https://www.omim.org/entry/218330"">218330</a> <a href=""https://www.omim.org/entry/613610"">613610</a> <a href=""https://www.omim.org/entry/614099"">614099</a> <a href=""https://www.omim.org/entry/614378"">614378</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21108387"">21108387</a>
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33727"">10.1002/ajmg.a.33727</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19760621"">19760621</a>
 著者        Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E
 タイトル      Cranioectodermal dysplasia: a probable ciliopathy.
 雑誌        Am J Med Genet A 149A:2206-11 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33013"">10.1002/ajmg.a.33013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20493458"">20493458</a> (IFT122)
 著者        Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW
 タイトル      Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
 雑誌        Am J Hum Genet 86:949-56 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.012"">10.1016/j.ajhg.2010.04.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20817137"">20817137</a> (WDR35)
 著者        Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG
 タイトル      Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
 雑誌        Am J Hum Genet 87:418-23 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.004"">10.1016/j.ajhg.2010.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21378380"">21378380</a> (IFT43)
 著者        Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R
 タイトル      C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
 雑誌        J Med Genet 48:390-5 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2011.088864"">10.1136/jmg.2011.088864</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22019273"">22019273</a> (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.001"">10.1016/j.ajhg.2011.10.001</a>"
H00530,ジュベール症候群,,,"Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. JBTS is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.",先天奇形,,"(JBTS1) INPP5E [HSA:56623] [KO:K20278]
 (JBTS2) TMEM216 [HSA:51259] [KO:K19385]
 (JBTS3) AHI1 [HSA:54806] [KO:K16740]
 (JBTS4) NPHP1 [HSA:4867] [KO:K19657]
 (JBTS5) CEP290 [HSA:80184] [KO:K16533]
 (JBTS6) TMEM67 [HSA:91147] [KO:K19348]
 (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
 (JBTS8) ARL13B [HSA:200894] [KO:K07962]
 (JBTS9) CC2D2A [HSA:57545] [KO:K19352]
 (JBTS10) OFD1 [HSA:8481] [KO:K16480]
 (JBTS11) TTC21B [HSA:79809] [KO:K19673]
 (JBTS12) KIF7 [HSA:374654] [KO:K18806]
 (JBTS13) TCTN1 [HSA:79600] [KO:K19382]
 (JBTS14) TMEM237 [HSA:65062] [KO:K22765]
 (JBTS15) CEP41 [HSA:95681] [KO:K16455]
 (JBTS16) TMEM138 [HSA:51524] [KO:K22867]
 (JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
 (JBTS18) TCTN3 [HSA:26123] [KO:K19382]
 (JBTS19) ZNF423 [HSA:23090] [KO:K22870]
 (JBTS20) TMEM231 [HSA:79583] [KO:K19362]
 (JBTS21) CSPP1 [HSA:79848] [KO:K16771]
 (JBTS22) PDE6D [HSA:5147] [KO:K13758]
 (JBTS23) JBTS23 [HSA:9786] [KO:K22865]
 (JBTS24) TCTN2 [HSA:79867] [KO:K19361]
 (JBTS25) CEP104 [HSA:9731] [KO:K16458]
 (JBTS26) KATNIP [HSA:23247] [KO:K22858]
 (JBTS27) B9D1 [HSA:27077] [KO:K16744]
 (JBTS28) MKS1 [HSA:54903] [KO:K19332]
 (JBTS29) TMEM107 [HSA:84314] [KO:K22764]
 (JBTS30) ARMC9 [HSA:80210] [KO:K22864]
 (JBTS31) CEP120 [HSA:153241] [KO:K16459]
 (JBTS32) SUFU [HSA:51684] [KO:K06229]
 (JBTS33) PIBF1 [HSA:10464] [KO:K16538]
 (JBTS34) B9D2 [HSA:80776] [KO:K16745]
 (JBTS35) ARL3 [HSA:403] [KO:K07944]
 (JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
 (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
 (JBTS38) JBTS38 [HSA:9851] [KO:K21765]
 (JBTS39) TMEM218 [HSA:219854]
 (JBTS40) IFT74 [HSA:80173] [KO:K19679]",,,,,,"ICD-11: LD20.00
 ICD-10: Q04.3
 MeSH: C536293 C536294 C536295 C536296 C537688 C537689 C566916 C567358 C567364 C567582
 OMIM: 213300 608091 608629 609583 610188 610688 611560 612291 612285 300804 613820 200990 614173 614424 614464 614465 614615 614815 614844 614970 615636 615665 616490 616654 616781 616784 617120 617121 617562 617622 617761 617757 617767 614175 618161 618763 619185 619476 619562 619582","PMID:21108387
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:10.1002/ajmg.a.33727
 PMID:20615230
 著者        Brancati F, Dallapiccola B, Valente EM
 タイトル      Joubert Syndrome and related disorders.
 雑誌        Orphanet J Rare Dis 5:20 (2010)
 DOI:10.1186/1750-1172-5-20
 PMID:19668216 (INPP5E)
 著者        Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG
 タイトル      Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
 雑誌        Nat Genet 41:1032-6 (2009)
 DOI:10.1038/ng.423
 PMID:20036350 (TMEM216)
 著者        Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O
 タイトル      Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
 雑誌        Am J Hum Genet 86:93-7 (2010)
 DOI:10.1016/j.ajhg.2009.12.007
 PMID:15322546 (AHI1)
 著者        Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA
 タイトル      Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
 雑誌        Nat Genet 36:1008-13 (2004)
 DOI:10.1038/ng1419
 PMID:15138899 (NPHP1)
 著者        Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
 タイトル      The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
 雑誌        Am J Hum Genet 75:82-91 (2004)
 DOI:10.1086/421846
 PMID:16682973 (CEP290)
 著者        Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
 タイトル      The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
 雑誌        Nat Genet 38:674-81 (2006)
 DOI:10.1038/ng1786
 PMID:17160906 (TMEM67)
 著者        Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T
 タイトル      The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
 雑誌        Am J Hum Genet 80:186-94 (2007)
 DOI:10.1086/510499
 PMID:17558409 (RPGRIP1L)
 著者        Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S
 タイトル      The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
 雑誌        Nat Genet 39:875-81 (2007)
 DOI:10.1038/ng2039
 PMID:18674751 (ARL13B)
 著者        Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attie-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
 タイトル      Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
 雑誌        Am J Hum Genet 83:170-9 (2008)
 DOI:10.1016/j.ajhg.2008.06.023
 PMID:18387594 (CC2D2A)
 著者        Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M
 タイトル      CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
 雑誌        Am J Hum Genet 82:1011-8 (2008)
 DOI:10.1016/j.ajhg.2008.01.021
 PMID:19800048 (OFD1)
 著者        Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP
 タイトル      OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
 雑誌        Am J Hum Genet 85:465-81 (2009)
 DOI:10.1016/j.ajhg.2009.09.002
 PMID:21258341 (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:10.1038/ng.756
 PMID:21633164 (KIF7)
 著者        Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
 タイトル      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
 雑誌        J Clin Invest 121:2662-7 (2011)
 DOI:10.1172/JCI43639
 PMID:21725307 (TCTN1)
 著者        Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF
 タイトル      A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
 雑誌        Nat Genet 43:776-84 (2011)
 DOI:10.1038/ng.891
 PMID:22152675 (TMEM237)
 著者        Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Muller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nurnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM
 タイトル      TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
 雑誌        Am J Hum Genet 89:713-30 (2011)
 DOI:10.1016/j.ajhg.2011.11.005
 PMID:22246503 (CEP41)
 著者        Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG
 タイトル      CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
 雑誌        Nat Genet 44:193-9 (2012)
 DOI:10.1038/ng.1078
 PMID:22282472 (TMEM138)
 著者        Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attie-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG
 タイトル      Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
 雑誌        Science 335:966-9 (2012)
 DOI:10.1126/science.1213506
 PMID:22425360 (CPLANE1)
 著者        Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Desilets V, Maranda B, Rouleau GA, Majewski J, Michaud JL
 タイトル      Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
 雑誌        Am J Hum Genet 90:693-700 (2012)
 DOI:10.1016/j.ajhg.2012.02.011
 PMID:22883145 (TCTN3)
 著者        Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T
 タイトル      TCTN3 mutations cause Mohr-Majewski syndrome.
 雑誌        Am J Hum Genet 91:372-8 (2012)
 DOI:10.1016/j.ajhg.2012.06.017
 PMID:22863007 (ZNF423)
 著者        Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
 タイトル      Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
 雑誌        Cell 150:533-48 (2012)
 DOI:10.1016/j.cell.2012.06.028
 PMID:23012439 (TMEM231)
 著者        Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sebire G, Maranda B, Rouleau GA, Majewski J, Michaud JL
 タイトル      Mutations in TMEM231 cause Joubert syndrome in French Canadians.
 雑誌        J Med Genet 49:636-41 (2012)
 DOI:10.1136/jmedgenet-2012-101132
 PMID:24360807 (CSPP1)
 著者        Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG
 タイトル      Mutations in CSPP1 lead to classical Joubert syndrome.
 雑誌        Am J Hum Genet 94:80-6 (2014)
 DOI:10.1016/j.ajhg.2013.11.015
 PMID:24166846 (PDE6D)
 著者        Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attie-Bitach T
 タイトル      A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
 雑誌        Hum Mutat 35:137-46 (2014)
 DOI:10.1002/humu.22470
 PMID:26096313 (JBTS23)
 著者        Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenco C, Arslan M, Shendure J, Doherty D
 タイトル      KIAA0586 is Mutated in Joubert Syndrome.
 雑誌        Hum Mutat 36:831-5 (2015)
 DOI:10.1002/humu.22821
 PMID:21565611 (TCTN2)
 著者        Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK
 タイトル      Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
 雑誌        Cell 145:513-28 (2011)
 DOI:10.1016/j.cell.2011.04.019
 PMID:26477546 (CEP104)
 著者        Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL
 タイトル      Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
 雑誌        Am J Hum Genet 97:744-53 (2015)
 DOI:10.1016/j.ajhg.2015.09.009
 PMID:26714646 (KATNIP)
 著者        Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE
 タイトル      KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
 雑誌        Genome Biol 16:293 (2015)
 DOI:10.1186/s13059-015-0858-z
 PMID:24886560 (B9D1 MKS1)
 著者        Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Mate A, Zimmermann A, Gouider-Khouja N, Valente EM
 タイトル      Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
 雑誌        Orphanet J Rare Dis 9:72 (2014)
 DOI:10.1186/1750-1172-9-72
 PMID:26595381 (TMEM107)
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:10.1038/ncb3273
 PMID:28625504 (ARMC9)
 著者        Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
 タイトル      Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
 雑誌        Am J Hum Genet 101:23-36 (2017)
 DOI:10.1016/j.ajhg.2017.05.010
 PMID:27208211 (CEP120)
 著者        Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM
 タイトル      Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
 雑誌        J Med Genet 53:608-15 (2016)
 DOI:10.1136/jmedgenet-2016-103832
 PMID:28965847 (SUFU)
 著者        De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM
 タイトル      Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
 雑誌        Am J Hum Genet 101:552-563 (2017)
 DOI:10.1016/j.ajhg.2017.08.017
 PMID:26167768 (PIBF1)
 著者        Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
 タイトル      An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
 雑誌        Nat Cell Biol 17:1074-1087 (2015)
 DOI:10.1038/ncb3201
 PMID:26092869 (B9D2)
 著者        Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenco C, Martorell L, Garcia-Cazorla A, Ozyurek H, Haliloglu G, Tuysuz B, Topcu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
 タイトル      Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
 雑誌        J Med Genet 52:514-22 (2015)
 DOI:10.1136/jmedgenet-2015-103087
 PMID:30269812 (ARL3)
 著者        Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA
 タイトル      ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
 雑誌        Am J Hum Genet 103:612-620 (2018)
 DOI:10.1016/j.ajhg.2018.08.015
 PMID:30905400 (FAM149B1)
 著者        Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS
 タイトル      Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
 雑誌        Am J Hum Genet 104:731-737 (2019)
 DOI:10.1016/j.ajhg.2019.02.018
 PMID:32453716 (TOGARAM1 ARMC9)
 著者        Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D
 タイトル      Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
 雑誌        J Clin Invest 130:4423-4439 (2020)
 DOI:10.1172/JCI131656
 PMID:28220259 (JBTS38)
 著者        Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M
 タイトル      Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
 雑誌        Hum Genet 136:399-408 (2017)
 DOI:10.1007/s00439-017-1765-z
 PMID:33791682 (TMEM218)
 著者        Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D
 タイトル      TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
 雑誌        HGG Adv 2:100016 (2021)
 DOI:10.1016/j.xhgg.2020.100016
 PMID:33531668 (IFT74)
 著者        Luo M, Lin Z, Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H, Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M
 タイトル      Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
 雑誌        Genet Med 23:1041-1049 (2021)
 DOI:10.1038/s41436-021-01106-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00530"">H00530</a>",ジュベール症候群,"Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. JBTS is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.",,"(JBTS1) INPP5E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56623"">56623</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20278"">K20278</a>]
 (JBTS2) TMEM216 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51259"">51259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19385"">K19385</a>]
 (JBTS3) AHI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54806"">54806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16740"">K16740</a>]
 (JBTS4) NPHP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4867"">4867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19657"">K19657</a>]
 (JBTS5) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (JBTS6) TMEM67 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91147"">91147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19348"">K19348</a>]
 (JBTS7) RPGRIP1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23322"">23322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16550"">K16550</a>]
 (JBTS8) ARL13B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200894"">200894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07962"">K07962</a>]
 (JBTS9) CC2D2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57545"">57545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19352"">K19352</a>]
 (JBTS10) OFD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8481"">8481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16480"">K16480</a>]
 (JBTS11) TTC21B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79809"">79809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19673"">K19673</a>]
 (JBTS12) KIF7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374654"">374654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18806"">K18806</a>]
 (JBTS13) TCTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79600"">79600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19382"">K19382</a>]
 (JBTS14) TMEM237 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65062"">65062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22765"">K22765</a>]
 (JBTS15) CEP41 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:95681"">95681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16455"">K16455</a>]
 (JBTS16) TMEM138 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51524"">51524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22867"">K22867</a>]
 (JBTS17) CPLANE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65250"">65250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22859"">K22859</a>]
 (JBTS18) TCTN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26123"">26123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19382"">K19382</a>]
 (JBTS19) ZNF423 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23090"">23090</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22870"">K22870</a>]
 (JBTS20) TMEM231 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79583"">79583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19362"">K19362</a>]
 (JBTS21) CSPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79848"">79848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16771"">K16771</a>]
 (JBTS22) PDE6D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5147"">5147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13758"">K13758</a>]
 (JBTS23) JBTS23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9786"">9786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22865"">K22865</a>]
 (JBTS24) TCTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79867"">79867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19361"">K19361</a>]
 (JBTS25) CEP104 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9731"">9731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16458"">K16458</a>]
 (JBTS26) KATNIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23247"">23247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22858"">K22858</a>]
 (JBTS27) B9D1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27077"">27077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16744"">K16744</a>]
 (JBTS28) MKS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54903"">54903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19332"">K19332</a>]
 (JBTS29) TMEM107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84314"">84314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22764"">K22764</a>]
 (JBTS30) ARMC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80210"">80210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22864"">K22864</a>]
 (JBTS31) CEP120 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:153241"">153241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16459"">K16459</a>]
 (JBTS32) SUFU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51684"">51684</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06229"">K06229</a>]
 (JBTS33) PIBF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10464"">10464</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16538"">K16538</a>]
 (JBTS34) B9D2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80776"">80776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16745"">K16745</a>]
 (JBTS35) ARL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:403"">403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07944"">K07944</a>]
 (JBTS36) FAM149B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:317662"">317662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24653"">K24653</a>]
 (JBTS37) TOGARAM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23116"">23116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24886"">K24886</a>]
 (JBTS38) JBTS38 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9851"">9851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21765"">K21765</a>]
 (JBTS39) TMEM218 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:219854"">219854</a>]
 (JBTS40) IFT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80173"">80173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19679"">K19679</a>]",,,,,,"ICD-11: LD20.00
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536293"">C536293</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536294"">C536294</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536295"">C536295</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536296"">C536296</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537688"">C537688</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537689"">C537689</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566916"">C566916</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567358"">C567358</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567364"">C567364</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567582"">C567582</a>
 OMIM: <a href=""https://www.omim.org/entry/213300"">213300</a> <a href=""https://www.omim.org/entry/608091"">608091</a> <a href=""https://www.omim.org/entry/608629"">608629</a> <a href=""https://www.omim.org/entry/609583"">609583</a> <a href=""https://www.omim.org/entry/610188"">610188</a> <a href=""https://www.omim.org/entry/610688"">610688</a> <a href=""https://www.omim.org/entry/611560"">611560</a> <a href=""https://www.omim.org/entry/612291"">612291</a> <a href=""https://www.omim.org/entry/612285"">612285</a> <a href=""https://www.omim.org/entry/300804"">300804</a> <a href=""https://www.omim.org/entry/613820"">613820</a> <a href=""https://www.omim.org/entry/200990"">200990</a> <a href=""https://www.omim.org/entry/614173"">614173</a> <a href=""https://www.omim.org/entry/614424"">614424</a> <a href=""https://www.omim.org/entry/614464"">614464</a> <a href=""https://www.omim.org/entry/614465"">614465</a> <a href=""https://www.omim.org/entry/614615"">614615</a> <a href=""https://www.omim.org/entry/614815"">614815</a> <a href=""https://www.omim.org/entry/614844"">614844</a> <a href=""https://www.omim.org/entry/614970"">614970</a> <a href=""https://www.omim.org/entry/615636"">615636</a> <a href=""https://www.omim.org/entry/615665"">615665</a> <a href=""https://www.omim.org/entry/616490"">616490</a> <a href=""https://www.omim.org/entry/616654"">616654</a> <a href=""https://www.omim.org/entry/616781"">616781</a> <a href=""https://www.omim.org/entry/616784"">616784</a> <a href=""https://www.omim.org/entry/617120"">617120</a> <a href=""https://www.omim.org/entry/617121"">617121</a> <a href=""https://www.omim.org/entry/617562"">617562</a> <a href=""https://www.omim.org/entry/617622"">617622</a> <a href=""https://www.omim.org/entry/617761"">617761</a> <a href=""https://www.omim.org/entry/617757"">617757</a> <a href=""https://www.omim.org/entry/617767"">617767</a> <a href=""https://www.omim.org/entry/614175"">614175</a> <a href=""https://www.omim.org/entry/618161"">618161</a> <a href=""https://www.omim.org/entry/618763"">618763</a> <a href=""https://www.omim.org/entry/619185"">619185</a> <a href=""https://www.omim.org/entry/619476"">619476</a> <a href=""https://www.omim.org/entry/619562"">619562</a> <a href=""https://www.omim.org/entry/619582"">619582</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21108387"">21108387</a>
 著者        Brugmann SA, Cordero DR, Helms JA
 タイトル      Craniofacial ciliopathies: A new classification for craniofacial disorders.
 雑誌        Am J Med Genet A 152A:2995-3006 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33727"">10.1002/ajmg.a.33727</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20615230"">20615230</a>
 著者        Brancati F, Dallapiccola B, Valente EM
 タイトル      Joubert Syndrome and related disorders.
 雑誌        Orphanet J Rare Dis 5:20 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-20"">10.1186/1750-1172-5-20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19668216"">19668216</a> (INPP5E)
 著者        Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG
 タイトル      Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
 雑誌        Nat Genet 41:1032-6 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.423"">10.1038/ng.423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20036350"">20036350</a> (TMEM216)
 著者        Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O
 タイトル      Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
 雑誌        Am J Hum Genet 86:93-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.007"">10.1016/j.ajhg.2009.12.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15322546"">15322546</a> (AHI1)
 著者        Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA
 タイトル      Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
 雑誌        Nat Genet 36:1008-13 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1419"">10.1038/ng1419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15138899"">15138899</a> (NPHP1)
 著者        Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
 タイトル      The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
 雑誌        Am J Hum Genet 75:82-91 (2004)
 DOI:<a href=""https://doi.org/10.1086/421846"">10.1086/421846</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16682973"">16682973</a> (CEP290)
 著者        Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
 タイトル      The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
 雑誌        Nat Genet 38:674-81 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1786"">10.1038/ng1786</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160906"">17160906</a> (TMEM67)
 著者        Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T
 タイトル      The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
 雑誌        Am J Hum Genet 80:186-94 (2007)
 DOI:<a href=""https://doi.org/10.1086/510499"">10.1086/510499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17558409"">17558409</a> (RPGRIP1L)
 著者        Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S
 タイトル      The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
 雑誌        Nat Genet 39:875-81 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2039"">10.1038/ng2039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18674751"">18674751</a> (ARL13B)
 著者        Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attie-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
 タイトル      Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
 雑誌        Am J Hum Genet 83:170-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.06.023"">10.1016/j.ajhg.2008.06.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18387594"">18387594</a> (CC2D2A)
 著者        Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M
 タイトル      CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
 雑誌        Am J Hum Genet 82:1011-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.01.021"">10.1016/j.ajhg.2008.01.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19800048"">19800048</a> (OFD1)
 著者        Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP
 タイトル      OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
 雑誌        Am J Hum Genet 85:465-81 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.002"">10.1016/j.ajhg.2009.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21258341"">21258341</a> (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.756"">10.1038/ng.756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21633164"">21633164</a> (KIF7)
 著者        Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
 タイトル      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
 雑誌        J Clin Invest 121:2662-7 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI43639"">10.1172/JCI43639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21725307"">21725307</a> (TCTN1)
 著者        Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF
 タイトル      A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
 雑誌        Nat Genet 43:776-84 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.891"">10.1038/ng.891</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22152675"">22152675</a> (TMEM237)
 著者        Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Muller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nurnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM
 タイトル      TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
 雑誌        Am J Hum Genet 89:713-30 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.005"">10.1016/j.ajhg.2011.11.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22246503"">22246503</a> (CEP41)
 著者        Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG
 タイトル      CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
 雑誌        Nat Genet 44:193-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1078"">10.1038/ng.1078</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22282472"">22282472</a> (TMEM138)
 著者        Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attie-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG
 タイトル      Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
 雑誌        Science 335:966-9 (2012)
 DOI:<a href=""https://doi.org/10.1126/science.1213506"">10.1126/science.1213506</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22425360"">22425360</a> (CPLANE1)
 著者        Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Desilets V, Maranda B, Rouleau GA, Majewski J, Michaud JL
 タイトル      Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
 雑誌        Am J Hum Genet 90:693-700 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.011"">10.1016/j.ajhg.2012.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22883145"">22883145</a> (TCTN3)
 著者        Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T
 タイトル      TCTN3 mutations cause Mohr-Majewski syndrome.
 雑誌        Am J Hum Genet 91:372-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.06.017"">10.1016/j.ajhg.2012.06.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22863007"">22863007</a> (ZNF423)
 著者        Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
 タイトル      Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
 雑誌        Cell 150:533-48 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2012.06.028"">10.1016/j.cell.2012.06.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23012439"">23012439</a> (TMEM231)
 著者        Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sebire G, Maranda B, Rouleau GA, Majewski J, Michaud JL
 タイトル      Mutations in TMEM231 cause Joubert syndrome in French Canadians.
 雑誌        J Med Genet 49:636-41 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101132"">10.1136/jmedgenet-2012-101132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24360807"">24360807</a> (CSPP1)
 著者        Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG
 タイトル      Mutations in CSPP1 lead to classical Joubert syndrome.
 雑誌        Am J Hum Genet 94:80-6 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.015"">10.1016/j.ajhg.2013.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24166846"">24166846</a> (PDE6D)
 著者        Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attie-Bitach T
 タイトル      A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
 雑誌        Hum Mutat 35:137-46 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22470"">10.1002/humu.22470</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26096313"">26096313</a> (JBTS23)
 著者        Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenco C, Arslan M, Shendure J, Doherty D
 タイトル      KIAA0586 is Mutated in Joubert Syndrome.
 雑誌        Hum Mutat 36:831-5 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22821"">10.1002/humu.22821</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21565611"">21565611</a> (TCTN2)
 著者        Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK
 タイトル      Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
 雑誌        Cell 145:513-28 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2011.04.019"">10.1016/j.cell.2011.04.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26477546"">26477546</a> (CEP104)
 著者        Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL
 タイトル      Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
 雑誌        Am J Hum Genet 97:744-53 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.09.009"">10.1016/j.ajhg.2015.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26714646"">26714646</a> (KATNIP)
 著者        Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE
 タイトル      KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
 雑誌        Genome Biol 16:293 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13059-015-0858-z"">10.1186/s13059-015-0858-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24886560"">24886560</a> (B9D1 <a href=""https://pubmed.ncbi.nlm.nih.gov/MKS1)"">MKS1)</a>
 著者        Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Mate A, Zimmermann A, Gouider-Khouja N, Valente EM
 タイトル      Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
 雑誌        Orphanet J Rare Dis 9:72 (2014)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-9-72"">10.1186/1750-1172-9-72</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26595381"">26595381</a> (TMEM107)
 著者        Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
 タイトル      TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
 雑誌        Nat Cell Biol 18:122-31 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncb3273"">10.1038/ncb3273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28625504"">28625504</a> (ARMC9)
 著者        Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
 タイトル      Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
 雑誌        Am J Hum Genet 101:23-36 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.010"">10.1016/j.ajhg.2017.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27208211"">27208211</a> (CEP120)
 著者        Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM
 タイトル      Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
 雑誌        J Med Genet 53:608-15 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-103832"">10.1136/jmedgenet-2016-103832</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28965847"">28965847</a> (SUFU)
 著者        De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM
 タイトル      Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
 雑誌        Am J Hum Genet 101:552-563 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.017"">10.1016/j.ajhg.2017.08.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26167768"">26167768</a> (PIBF1)
 著者        Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
 タイトル      An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
 雑誌        Nat Cell Biol 17:1074-1087 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncb3201"">10.1038/ncb3201</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26092869"">26092869</a> (B9D2)
 著者        Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenco C, Martorell L, Garcia-Cazorla A, Ozyurek H, Haliloglu G, Tuysuz B, Topcu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
 タイトル      Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
 雑誌        J Med Genet 52:514-22 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103087"">10.1136/jmedgenet-2015-103087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30269812"">30269812</a> (ARL3)
 著者        Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA
 タイトル      ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
 雑誌        Am J Hum Genet 103:612-620 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.08.015"">10.1016/j.ajhg.2018.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30905400"">30905400</a> (FAM149B1)
 著者        Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS
 タイトル      Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
 雑誌        Am J Hum Genet 104:731-737 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.018"">10.1016/j.ajhg.2019.02.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32453716"">32453716</a> (TOGARAM1 <a href=""https://pubmed.ncbi.nlm.nih.gov/ARMC9)"">ARMC9)</a>
 著者        Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D
 タイトル      Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
 雑誌        J Clin Invest 130:4423-4439 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI131656"">10.1172/JCI131656</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28220259"">28220259</a> (JBTS38)
 著者        Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M
 タイトル      Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
 雑誌        Hum Genet 136:399-408 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-017-1765-z"">10.1007/s00439-017-1765-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33791682"">33791682</a> (TMEM218)
 著者        Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D
 タイトル      TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
 雑誌        HGG Adv 2:100016 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.xhgg.2020.100016"">10.1016/j.xhgg.2020.100016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33531668"">33531668</a> (IFT74)
 著者        Luo M, Lin Z, Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H, Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M
 タイトル      Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
 雑誌        Genet Med 23:1041-1049 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-021-01106-z"">10.1038/s41436-021-01106-z</a>"
H00531,"静脈奇形
 下位グループ    孤発性静脈奇形
 皮膚粘膜の静脈奇形
 巨大静脈奇形",,,"Venous malformations are vascular anomalies that present with congenital blue-colored birthmarks resulted from dilated veins. Venous malformations are low-flow vascular malformations. Majority of them occur in the head and neck region. Birthmarks in cutaneomucosal venous malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases are unifocal, with extensive venous malformations accounting for only one percent of cases and more commonly manifesting as rare, inherited forms. Venous malformations will grow with age, infiltrating normal structures. They can give rise to functional disabilities, including obstruction to airway and swallowing difficulties. Also, they can cause visual or auditory disturbance and delayed speech development. In addition, bleeding, pain, infection, skeletal deformity, and cosmetic disfigurement may occur. Active treatment of venous malformations is indicated especially in head and neck region. Surgery can cause damage to normal surrounding structures, resulting in significant disfigurement and loss of function. Complete excision is often impossible for infiltrative lesions. Sclerotherapy has gained popularity recently and become the first-line treatment for venous malformations in head and neck region.",先天奇形,,"(sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
 (glomuvenous) GLMN [HSA:11146] [KO:K23345]",,,,,,"ICD-11: LA90.2
 ICD-10: Q27.3
 MeSH: C563977 C536827
 OMIM: 600195 138000","PMID:26483982
 著者        Amato MV, Patel NA, Hu S, Pantelides H
 タイトル      Sporadic Multifocal Venous Malformations of the Head and Neck.
 雑誌        Case Rep Otolaryngol 2015:508149 (2015)
 DOI:10.1155/2015/508149
 PMID:24008546
 著者        Leung M, Leung L, Fung D, Poon WL, Liu C, Chung K, Tang P, Tse S, Fan TW, Chao N, Liu K
 タイトル      Management of the low-flow head and neck vascular malformations in children: the sclerotherapy protocol.
 雑誌        Eur J Pediatr Surg 24:97-101 (2014)
 DOI:10.1055/s-0033-1354585
 PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226
 PMID:19079259
 著者        Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M
 タイトル      Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
 雑誌        Nat Genet 41:118-24 (2009)
 DOI:10.1038/ng.272","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00531"">H00531</a>","静脈奇形
 下位グループ    孤発性静脈奇形
 皮膚粘膜の静脈奇形
 巨大静脈奇形","Venous malformations are vascular anomalies that present with congenital blue-colored birthmarks resulted from dilated veins. Venous malformations are low-flow vascular malformations. Majority of them occur in the head and neck region. Birthmarks in cutaneomucosal venous malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases are unifocal, with extensive venous malformations accounting for only one percent of cases and more commonly manifesting as rare, inherited forms. Venous malformations will grow with age, infiltrating normal structures. They can give rise to functional disabilities, including obstruction to airway and swallowing difficulties. Also, they can cause visual or auditory disturbance and delayed speech development. In addition, bleeding, pain, infection, skeletal deformity, and cosmetic disfigurement may occur. Active treatment of venous malformations is indicated especially in head and neck region. Surgery can cause damage to normal surrounding structures, resulting in significant disfigurement and loss of function. Complete excision is often impossible for infiltrative lesions. Sclerotherapy has gained popularity recently and become the first-line treatment for venous malformations in head and neck region.",,"(sporadic, cutaneomucosal) TIE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7010"">7010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05121"">K05121</a>]
 (glomuvenous) GLMN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11146"">11146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23345"">K23345</a>]",,,,,,"ICD-11: LA90.2
 ICD-10: Q27.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563977"">C563977</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536827"">C536827</a>
 OMIM: <a href=""https://www.omim.org/entry/600195"">600195</a> <a href=""https://www.omim.org/entry/138000"">138000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26483982"">26483982</a>
 著者        Amato MV, Patel NA, Hu S, Pantelides H
 タイトル      Sporadic Multifocal Venous Malformations of the Head and Neck.
 雑誌        Case Rep Otolaryngol 2015:508149 (2015)
 DOI:<a href=""https://doi.org/10.1155/2015/508149"">10.1155/2015/508149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24008546"">24008546</a>
 著者        Leung M, Leung L, Fung D, Poon WL, Liu C, Chung K, Tang P, Tse S, Fan TW, Chao N, Liu K
 タイトル      Management of the low-flow head and neck vascular malformations in children: the sclerotherapy protocol.
 雑誌        Eur J Pediatr Surg 24:97-101 (2014)
 DOI:<a href=""https://doi.org/10.1055/s-0033-1354585"">10.1055/s-0033-1354585</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19079259"">19079259</a>
 著者        Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M
 タイトル      Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
 雑誌        Nat Genet 41:118-24 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.272"">10.1038/ng.272</a>"
H00532,パークスウェーバー症候群,,,"Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations.",先天奇形,,RASA1 [HSA:5921] [KO:K04352],,,,,,"ICD-11: LD26.60
 ICD-10: Q87.2
 MeSH: D013341
 OMIM: 608355","PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:18446851
 著者        Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M
 タイトル      Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
 雑誌        Hum Mutat 29:959-65 (2008)
 DOI:10.1002/humu.20746
 PMID:14639529
 著者        Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M
 タイトル      Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
 雑誌        Am J Hum Genet 73:1240-9 (2003)
 DOI:10.1086/379793","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00532"">H00532</a>",パークスウェーバー症候群,"Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations.",,"RASA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5921"">5921</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04352"">K04352</a>]",,,,,,"ICD-11: LD26.60
 ICD-10: Q87.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013341"">D013341</a>
 OMIM: <a href=""https://www.omim.org/entry/608355"">608355</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18446851"">18446851</a>
 著者        Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M
 タイトル      Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
 雑誌        Hum Mutat 29:959-65 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.20746"">10.1002/humu.20746</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14639529"">14639529</a>
 著者        Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M
 タイトル      Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
 雑誌        Am J Hum Genet 73:1240-9 (2003)
 DOI:<a href=""https://doi.org/10.1086/379793"">10.1086/379793</a>"
H00533,"オスラー病;
 遺伝性出血性毛細血管拡張症",,,"Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal telangiectases. HHT is often associated with arteriovenous malformations in the pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome.",先天奇形,,"(HHT1) ENG [HSA:2022] [KO:K06526]
 (HHT2) ACVRL1 [HSA:94] [KO:K13594]
 (HHT5) GDF2 [HSA:2658] [KO:K05503]
 (JPHT) SMAD4 [HSA:4089] [KO:K04501]",,,,,,"ICD-11: LA90.00
 ICD-10: I78.0
 MeSH: D013683
 OMIM: 187300 600376 615506 175050","PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226
 PMID:20870325
 著者        Shovlin CL
 タイトル      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
 雑誌        Blood Rev 24:203-19 (2010)
 DOI:10.1016/j.blre.2010.07.001
 PMID:20345718
 著者        Dupuis-Girod S, Bailly S, Plauchu H
 タイトル      Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
 雑誌        J Thromb Haemost 8:1447-56 (2010)
 DOI:10.1111/j.1538-7836.2010.03860.x
 PMID:23972370
 著者        Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fulop GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P
 タイトル      BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
 雑誌        Am J Hum Genet 93:530-7 (2013)
 DOI:10.1016/j.ajhg.2013.07.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00533"">H00533</a>","オスラー病;
 遺伝性出血性毛細血管拡張症","Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal telangiectases. HHT is often associated with arteriovenous malformations in the pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) syndrome.",,"(HHT1) ENG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2022"">2022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06526"">K06526</a>]
 (HHT2) ACVRL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94"">94</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13594"">K13594</a>]
 (HHT5) GDF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2658"">2658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05503"">K05503</a>]
 (JPHT) SMAD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4089"">4089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04501"">K04501</a>]",,,,,,"ICD-11: LA90.00
 ICD-10: I78.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013683"">D013683</a>
 OMIM: <a href=""https://www.omim.org/entry/187300"">187300</a> <a href=""https://www.omim.org/entry/600376"">600376</a> <a href=""https://www.omim.org/entry/615506"">615506</a> <a href=""https://www.omim.org/entry/175050"">175050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20870325"">20870325</a>
 著者        Shovlin CL
 タイトル      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
 雑誌        Blood Rev 24:203-19 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2010.07.001"">10.1016/j.blre.2010.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20345718"">20345718</a>
 著者        Dupuis-Girod S, Bailly S, Plauchu H
 タイトル      Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
 雑誌        J Thromb Haemost 8:1447-56 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2010.03860.x"">10.1111/j.1538-7836.2010.03860.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23972370"">23972370</a>
 著者        Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fulop GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P
 タイトル      BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
 雑誌        Am J Hum Genet 93:530-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.004"">10.1016/j.ajhg.2013.07.004</a>"
H00534,脳海綿状血管腫,,,"Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent angiogenesis.",先天奇形,,"(CCM1) KRIT1 [HSA:889] [KO:K17705]
 (CCM2) MGC4607 [HSA:83605]
 (CCM3) PDCD10 [HSA:11235] [KO:K18269]",,,,,,"ICD-11: 8B22.41
 ICD-10: Q28.3
 MeSH: D020786
 OMIM: 116860 603284 603285","PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00534"">H00534</a>",脳海綿状血管腫,"Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent angiogenesis.",,"(CCM1) KRIT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:889"">889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17705"">K17705</a>]
 (CCM2) MGC4607 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83605"">83605</a>]
 (CCM3) PDCD10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11235"">11235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18269"">K18269</a>]",,,,,,"ICD-11: 8B22.41
 ICD-10: Q28.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020786"">D020786</a>
 OMIM: <a href=""https://www.omim.org/entry/116860"">116860</a> <a href=""https://www.omim.org/entry/603284"">603284</a> <a href=""https://www.omim.org/entry/603285"">603285</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>"
H00535,"リンパ管奇形
 下位グループ    遺伝性リンパ浮腫",,,"Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic drainage. The dilated lymphatic channels that are not connected to the lymphatic vessels cause these edemas.",先天奇形,,"(LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097]
 (LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619]
 (LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449]
 (LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
 (LMPHM7) EPHB4 [HSA:2050] [KO:K05113]
 (LMPHM8) CALCRL [HSA:10203] [KO:K04577]
 (LMPHM9) CELSR1 [HSA:9620] [KO:K04600]
 (LMPHM10) ANGPT2 [HSA:285] [KO:K05466]
 (LMPHM11) TIE1 [HSA:7075] [KO:K05120]",,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: D008209
 OMIM: 153100 613480 615907 616843 617300 618773 619319 619369 619401","PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226
 PMID:10835628 (FLT4)
 著者        Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN
 タイトル      Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
 雑誌        Nat Genet 25:153-9 (2000)
 DOI:10.1038/75997
 PMID:20537300 (GJC2)
 著者        Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN
 タイトル      GJC2 missense mutations cause human lymphedema.
 雑誌        Am J Hum Genet 86:943-8 (2010)
 DOI:10.1016/j.ajhg.2010.04.010
 PMID:24744435 (VEGFC)
 著者        Balboa-Beltran E, Fernandez-Seara MJ, Perez-Munuzuri A, Lago R, Garcia-Magan C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F
 タイトル      A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
 雑誌        J Med Genet 51:475-8 (2014)
 DOI:10.1136/jmedgenet-2013-102020
 PMID:26333996 (PIEZO1)
 著者        Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P
 タイトル      Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
 雑誌        Nat Commun 6:8085 (2015)
 DOI:10.1038/ncomms9085
 PMID:29905864 (EPHB4)
 著者        Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H
 タイトル      Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
 雑誌        Hum Mol Genet 27:3233-3245 (2018)
 DOI:10.1093/hmg/ddy218
 PMID:30115739 (CALCRL)
 著者        Mackie DI, Al Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, Berg JS, Simms J, Poyner DR, Caron KM
 タイトル      hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.
 雑誌        J Exp Med 215:2339-2353 (2018)
 DOI:10.1084/jem.20180528
 PMID:31215153 (CELSR1)
 著者        Maltese PE, Michelini S, Ricci M, Maitz S, Fiorentino A, Serrani R, Lazzerotti A, Bruson A, Paolacci S, Benedetti S, Bertelli M
 タイトル      Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.
 雑誌        Am J Med Genet A 179:1718-1724 (2019)
 DOI:10.1002/ajmg.a.61269
 PMID:32908006 (ANGPT2)
 著者        Leppanen VM, Brouillard P, Korhonen EA, Sipila T, Jha SK, Revencu N, Labarque V, Fastre E, Schlogel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D'Elia A, Kuurne J, Elamaa H, Koh GY, Saharinen P, Vikkula M, Alitalo K
 タイトル      Characterization of ANGPT2 mutations associated with primary lymphedema.
 雑誌        Sci Transl Med 12:eaax8013 (2020)
 DOI:10.1126/scitranslmed.aax8013
 PMID:32947856 (TIE1)
 著者        Michelini S, Ricci M, Veselenyiova D, Kenanoglu S, Kurti D, Baglivo M, Fiorentino A, Basha SH, Priya S, Serrani R, Krajcovic J, Dundar M, Dautaj A, Bertelli M
 タイトル      TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
 雑誌        Int J Mol Sci 21:E6780 (2020)
 DOI:10.3390/ijms21186780","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00535"">H00535</a>","リンパ管奇形
 下位グループ    遺伝性リンパ浮腫","Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic drainage. The dilated lymphatic channels that are not connected to the lymphatic vessels cause these edemas.",,"(LMPHM1/LMPH1A) FLT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2324"">2324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05097"">K05097</a>]
 (LMPHM3/LMPH1C) GJC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57165"">57165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07619"">K07619</a>]
 (LMPHM4/LMPH1D) VEGFC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7424"">7424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05449"">K05449</a>]
 (LMPHM6/LMPH3) PIEZO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9780"">9780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22128"">K22128</a>]
 (LMPHM7) EPHB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2050"">2050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05113"">K05113</a>]
 (LMPHM8) CALCRL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10203"">10203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04577"">K04577</a>]
 (LMPHM9) CELSR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9620"">9620</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04600"">K04600</a>]
 (LMPHM10) ANGPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285"">285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05466"">K05466</a>]
 (LMPHM11) TIE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7075"">7075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05120"">K05120</a>]",,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008209"">D008209</a>
 OMIM: <a href=""https://www.omim.org/entry/153100"">153100</a> <a href=""https://www.omim.org/entry/613480"">613480</a> <a href=""https://www.omim.org/entry/615907"">615907</a> <a href=""https://www.omim.org/entry/616843"">616843</a> <a href=""https://www.omim.org/entry/617300"">617300</a> <a href=""https://www.omim.org/entry/618773"">618773</a> <a href=""https://www.omim.org/entry/619319"">619319</a> <a href=""https://www.omim.org/entry/619369"">619369</a> <a href=""https://www.omim.org/entry/619401"">619401</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10835628"">10835628</a> (FLT4)
 著者        Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN
 タイトル      Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
 雑誌        Nat Genet 25:153-9 (2000)
 DOI:<a href=""https://doi.org/10.1038/75997"">10.1038/75997</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20537300"">20537300</a> (GJC2)
 著者        Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN
 タイトル      GJC2 missense mutations cause human lymphedema.
 雑誌        Am J Hum Genet 86:943-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.010"">10.1016/j.ajhg.2010.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24744435"">24744435</a> (VEGFC)
 著者        Balboa-Beltran E, Fernandez-Seara MJ, Perez-Munuzuri A, Lago R, Garcia-Magan C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F
 タイトル      A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
 雑誌        J Med Genet 51:475-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102020"">10.1136/jmedgenet-2013-102020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26333996"">26333996</a> (PIEZO1)
 著者        Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P
 タイトル      Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
 雑誌        Nat Commun 6:8085 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms9085"">10.1038/ncomms9085</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29905864"">29905864</a> (EPHB4)
 著者        Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H
 タイトル      Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
 雑誌        Hum Mol Genet 27:3233-3245 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy218"">10.1093/hmg/ddy218</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30115739"">30115739</a> (CALCRL)
 著者        Mackie DI, Al Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, Berg JS, Simms J, Poyner DR, Caron KM
 タイトル      hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.
 雑誌        J Exp Med 215:2339-2353 (2018)
 DOI:<a href=""https://doi.org/10.1084/jem.20180528"">10.1084/jem.20180528</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31215153"">31215153</a> (CELSR1)
 著者        Maltese PE, Michelini S, Ricci M, Maitz S, Fiorentino A, Serrani R, Lazzerotti A, Bruson A, Paolacci S, Benedetti S, Bertelli M
 タイトル      Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.
 雑誌        Am J Med Genet A 179:1718-1724 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61269"">10.1002/ajmg.a.61269</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32908006"">32908006</a> (ANGPT2)
 著者        Leppanen VM, Brouillard P, Korhonen EA, Sipila T, Jha SK, Revencu N, Labarque V, Fastre E, Schlogel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D'Elia A, Kuurne J, Elamaa H, Koh GY, Saharinen P, Vikkula M, Alitalo K
 タイトル      Characterization of ANGPT2 mutations associated with primary lymphedema.
 雑誌        Sci Transl Med 12:eaax8013 (2020)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aax8013"">10.1126/scitranslmed.aax8013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32947856"">32947856</a> (TIE1)
 著者        Michelini S, Ricci M, Veselenyiova D, Kenanoglu S, Kurti D, Baglivo M, Fiorentino A, Basha SH, Priya S, Serrani R, Krajcovic J, Dundar M, Dautaj A, Bertelli M
 タイトル      TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
 雑誌        Int J Mol Sci 21:E6780 (2020)
 DOI:<a href=""https://doi.org/10.3390/ijms21186780"">10.3390/ijms21186780</a>"
H00536,皮質下梗塞および白質脳症を伴う常染色体優性脳動脈症,,,CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.,先天奇形,,NOTCH3 [HSA:4854] [KO:K20995],,,,,,"ICD-11: 8B22.C0
 ICD-10: F01.1 I67.3
 OMIM: 125310","PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226
 PMID:20967782
 著者        Joutel A
 タイトル      Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.
 雑誌        Bioessays 33:73-80 (2011)
 DOI:10.1002/bies.201000093","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00536"">H00536</a>",皮質下梗塞および白質脳症を伴う常染色体優性脳動脈症,CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.,,"NOTCH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4854"">4854</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20995"">K20995</a>]",,,,,,"ICD-11: 8B22.C0
 ICD-10: F01.1 I67.3
 OMIM: <a href=""https://www.omim.org/entry/125310"">125310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20967782"">20967782</a>
 著者        Joutel A
 タイトル      Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.
 雑誌        Bioessays 33:73-80 (2011)
 DOI:<a href=""https://doi.org/10.1002/bies.201000093"">10.1002/bies.201000093</a>"
H00537,"ネフロン癆
 下位グループ    Senior-Loken 症候群 [DS:H00538]",,,"Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The outcome of these diseases is end-stage renal disease. Multiple signaling pathways are altered because of mutated cilia genes.",先天奇形,,"(NPHP1) NPHP1 [HSA:4867] [KO:K19657]
 (NPHP2) INVS [HSA:27130] [KO:K19626]
 (NPHP3) NPHP3 [HSA:27031] [KO:K19360]
 (NPHP4) NPHP4 [HSA:261734] [KO:K16478]
 (NPHP5) IQCB1 [HSA:9657] [KO:K16774]
 (NPHP6) CEP290 [HSA:80184] [KO:K16533]
 (NPHP7) GLIS2 [HSA:84662] [KO:K09233]
 (NPHP9) NEK8 [HSA:284086] [KO:K20877]
 (NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
 (NPHP11) TMEM67 [HSA:91147] [KO:K19348]
 (NPHP12) TTC21B [HSA:79809] [KO:K19673]
 (NPHP13) WDR19 [HSA:57728] [KO:K19671]
 (NPHP14) ZNF423 [HSA:23090] [KO:K22870]
 (NPHP15) CEP164 [HSA:22897] [KO:K16462]
 (NPHP16) ANKS6 [HSA:203286] [KO:K21415]
 (NPHP18) CEP83 [HSA:51134] [KO:K16754]
 (NPHP19) DCDC2 [HSA:51473] [KO:K23405]
 (NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
 (NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]",,,,,,"ICD-11: GB83
 ICD-10: Q61.5
 MeSH: D052177
 OMIM: 256100 602088 604387 606966 609254 610189 611498 613824 613615 613550 613820 614377 614844 614845 615382 615862 616217 617271 613159","PMID:21898032
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:10.1007/s00431-011-1553-z
 PMID:11261687
 著者        Hildebrandt F, Omram H
 タイトル      New insights: nephronophthisis-medullary cystic kidney disease.
 雑誌        Pediatr Nephrol 16:168-76 (2001)
 DOI:10.1007/s004670000518
 PMID:20652329
 著者        Wolf MT, Hildebrandt F
 タイトル      Nephronophthisis.
 雑誌        Pediatr Nephrol 26:181-94 (2011)
 DOI:10.1007/s00467-010-1585-z
 PMID:23559409
 著者        Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA
 タイトル      Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
 雑誌        Hum Genet 132:865-84 (2013)
 DOI:10.1007/s00439-013-1297-0
 PMID:22863007
 著者        Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
 タイトル      Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
 雑誌        Cell 150:533-48 (2012)
 DOI:10.1016/j.cell.2012.06.028
 PMID:23793029
 著者        Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstadter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS
 タイトル      ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
 雑誌        Nat Genet 45:951-6 (2013)
 DOI:10.1038/ng.2681
 PMID:23396133
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:10.1038/ng.2543
 PMID:27336129
 著者        Stokman M, Lilien M, Knoers N
 タイトル      Nephronophthisis
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00537"">H00537</a>","ネフロン癆
 下位グループ    Senior-Loken 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00538"">H00538</a>]","Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The outcome of these diseases is end-stage renal disease. Multiple signaling pathways are altered because of mutated cilia genes.",,"(NPHP1) NPHP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4867"">4867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19657"">K19657</a>]
 (NPHP2) INVS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27130"">27130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19626"">K19626</a>]
 (NPHP3) NPHP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27031"">27031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19360"">K19360</a>]
 (NPHP4) NPHP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:261734"">261734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16478"">K16478</a>]
 (NPHP5) IQCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9657"">9657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16774"">K16774</a>]
 (NPHP6) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (NPHP7) GLIS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84662"">84662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09233"">K09233</a>]
 (NPHP9) NEK8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284086"">284086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20877"">K20877</a>]
 (NPHP10) SDCCAG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10806"">10806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16488"">K16488</a>]
 (NPHP11) TMEM67 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91147"">91147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19348"">K19348</a>]
 (NPHP12) TTC21B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79809"">79809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19673"">K19673</a>]
 (NPHP13) WDR19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57728"">57728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19671"">K19671</a>]
 (NPHP14) ZNF423 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23090"">23090</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22870"">K22870</a>]
 (NPHP15) CEP164 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22897"">22897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16462"">K16462</a>]
 (NPHP16) ANKS6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203286"">203286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21415"">K21415</a>]
 (NPHP18) CEP83 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51134"">51134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16754"">K16754</a>]
 (NPHP19) DCDC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51473"">51473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23405"">K23405</a>]
 (NPHP20) MAPKBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23005"">23005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21763"">K21763</a>]
 (NPHPL1) XPNPEP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63929"">63929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01262"">K01262</a>]",,,,,,"ICD-11: GB83
 ICD-10: Q61.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052177"">D052177</a>
 OMIM: <a href=""https://www.omim.org/entry/256100"">256100</a> <a href=""https://www.omim.org/entry/602088"">602088</a> <a href=""https://www.omim.org/entry/604387"">604387</a> <a href=""https://www.omim.org/entry/606966"">606966</a> <a href=""https://www.omim.org/entry/609254"">609254</a> <a href=""https://www.omim.org/entry/610189"">610189</a> <a href=""https://www.omim.org/entry/611498"">611498</a> <a href=""https://www.omim.org/entry/613824"">613824</a> <a href=""https://www.omim.org/entry/613615"">613615</a> <a href=""https://www.omim.org/entry/613550"">613550</a> <a href=""https://www.omim.org/entry/613820"">613820</a> <a href=""https://www.omim.org/entry/614377"">614377</a> <a href=""https://www.omim.org/entry/614844"">614844</a> <a href=""https://www.omim.org/entry/614845"">614845</a> <a href=""https://www.omim.org/entry/615382"">615382</a> <a href=""https://www.omim.org/entry/615862"">615862</a> <a href=""https://www.omim.org/entry/616217"">616217</a> <a href=""https://www.omim.org/entry/617271"">617271</a> <a href=""https://www.omim.org/entry/613159"">613159</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21898032"">21898032</a>
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1553-z"">10.1007/s00431-011-1553-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11261687"">11261687</a>
 著者        Hildebrandt F, Omram H
 タイトル      New insights: nephronophthisis-medullary cystic kidney disease.
 雑誌        Pediatr Nephrol 16:168-76 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004670000518"">10.1007/s004670000518</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20652329"">20652329</a>
 著者        Wolf MT, Hildebrandt F
 タイトル      Nephronophthisis.
 雑誌        Pediatr Nephrol 26:181-94 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00467-010-1585-z"">10.1007/s00467-010-1585-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23559409"">23559409</a>
 著者        Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA
 タイトル      Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
 雑誌        Hum Genet 132:865-84 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1297-0"">10.1007/s00439-013-1297-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22863007"">22863007</a>
 著者        Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
 タイトル      Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
 雑誌        Cell 150:533-48 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2012.06.028"">10.1016/j.cell.2012.06.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23793029"">23793029</a>
 著者        Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstadter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS
 タイトル      ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
 雑誌        Nat Genet 45:951-6 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2681"">10.1038/ng.2681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23396133"">23396133</a>
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2543"">10.1038/ng.2543</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27336129"">27336129</a>
 著者        Stokman M, Lilien M, Knoers N
 タイトル      Nephronophthisis
 雑誌        GeneReviews (1993)"
H00538,"Senior-Loken 症候群
 上位グループ    ネフロン癆 [DS:H00537]",,,Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa.,先天奇形,,"(SLSN1) NPHP1 [HSA:4867] [KO:K19657]
 (SLSN4) NPHP4 [HSA:261734] [KO:K16478]
 (SLSN5) IQCB1 [HSA:9657] [KO:K16774]
 (SLSN6) CEP290 [HSA:80184] [KO:K16533]
 (SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
 (SLSN8) WDR19 [HSA:57728] [KO:K19671]
 (SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]",,,,,,"ICD-11: GB83
 ICD-10: Q61.5
 MeSH: C537580
 OMIM: 266900 606996 609254 610189 613615 616307 616629","PMID:21898032
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:10.1007/s00431-011-1553-z
 PMID:17896309
 著者        Adams NA, Awadein A, Toma HS
 タイトル      The retinal ciliopathies.
 雑誌        Ophthalmic Genet 28:113-25 (2007)
 DOI:10.1080/13816810701537424
 PMID:15723066
 著者        Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F
 タイトル      Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
 雑誌        Nat Genet 37:282-8 (2005)
 DOI:10.1038/ng1520
 PMID:17617513
 著者        Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F
 タイトル      Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.
 雑誌        J Med Genet 44:657-63 (2007)
 DOI:10.1136/jmg.2007.052027
 PMID:11920287
 著者        Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F
 タイトル      Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
 雑誌        Am J Hum Genet 70:1240-6 (2002)
 DOI:10.1086/340317
 PMID:11752023
 著者        Omran H, Sasmaz G, Haffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F
 タイトル      Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.
 雑誌        J Am Soc Nephrol 13:75-9 (2002)
 PMID:20835237
 著者        Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermuller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nurnberg G, Nurnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F
 タイトル      Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
 雑誌        Nat Genet 42:840-50 (2010)
 DOI:10.1038/ng.662
 PMID:23683095
 著者        Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK
 タイトル      WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
 雑誌        Clin Genet 84:150-9 (2013)
 DOI:10.1111/cge.12196
 PMID:26487268
 著者        Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschke P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NA, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S
 タイトル      Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
 雑誌        Nat Commun 6:8666 (2015)
 DOI:10.1038/ncomms9666","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00538"">H00538</a>","Senior-Loken 症候群
 上位グループ    ネフロン癆 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00537"">H00537</a>]",Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa.,,"(SLSN1) NPHP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4867"">4867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19657"">K19657</a>]
 (SLSN4) NPHP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:261734"">261734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16478"">K16478</a>]
 (SLSN5) IQCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9657"">9657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16774"">K16774</a>]
 (SLSN6) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (SLSN7) SDCCAG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10806"">10806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16488"">K16488</a>]
 (SLSN8) WDR19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57728"">57728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19671"">K19671</a>]
 (SLSN9) TRAF3IP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26146"">26146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19680"">K19680</a>]",,,,,,"ICD-11: GB83
 ICD-10: Q61.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537580"">C537580</a>
 OMIM: <a href=""https://www.omim.org/entry/266900"">266900</a> <a href=""https://www.omim.org/entry/606996"">606996</a> <a href=""https://www.omim.org/entry/609254"">609254</a> <a href=""https://www.omim.org/entry/610189"">610189</a> <a href=""https://www.omim.org/entry/613615"">613615</a> <a href=""https://www.omim.org/entry/616307"">616307</a> <a href=""https://www.omim.org/entry/616629"">616629</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21898032"">21898032</a>
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1553-z"">10.1007/s00431-011-1553-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17896309"">17896309</a>
 著者        Adams NA, Awadein A, Toma HS
 タイトル      The retinal ciliopathies.
 雑誌        Ophthalmic Genet 28:113-25 (2007)
 DOI:<a href=""https://doi.org/10.1080/13816810701537424"">10.1080/13816810701537424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15723066"">15723066</a>
 著者        Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F
 タイトル      Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
 雑誌        Nat Genet 37:282-8 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1520"">10.1038/ng1520</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17617513"">17617513</a>
 著者        Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F
 タイトル      Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.
 雑誌        J Med Genet 44:657-63 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052027"">10.1136/jmg.2007.052027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11920287"">11920287</a>
 著者        Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F
 タイトル      Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
 雑誌        Am J Hum Genet 70:1240-6 (2002)
 DOI:<a href=""https://doi.org/10.1086/340317"">10.1086/340317</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11752023"">11752023</a>
 著者        Omran H, Sasmaz G, Haffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F
 タイトル      Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.
 雑誌        J Am Soc Nephrol 13:75-9 (2002)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20835237"">20835237</a>
 著者        Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermuller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nurnberg G, Nurnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F
 タイトル      Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
 雑誌        Nat Genet 42:840-50 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.662"">10.1038/ng.662</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23683095"">23683095</a>
 著者        Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK
 タイトル      WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
 雑誌        Clin Genet 84:150-9 (2013)
 DOI:<a href=""https://doi.org/10.1111/cge.12196"">10.1111/cge.12196</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26487268"">26487268</a>
 著者        Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschke P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NA, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S
 タイトル      Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
 雑誌        Nat Commun 6:8666 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms9666"">10.1038/ncomms9666</a>"
H00539,"PTEN過誤腫症候群
 下位グループ    カウデン症候群 [DS:H01222]
 Bannayan-Riley-Ruvalcaba 症候群",,,"PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant tumors, especially in Cowden syndrome.",先天奇形,,PTEN [HSA:5728] [KO:K01110],,,,,See also H02119.,"ICD-11: 2E92.40
 ICD-10: Q85.8 Q87.8 Q87.3
 MeSH: C566636 C567337
 OMIM: 158350 153480","PMID:19668082
 著者        Hobert JA, Eng C
 タイトル      PTEN hamartoma tumor syndrome: an overview.
 雑誌        Genet Med 11:687-94 (2009)
 DOI:10.1097/GIM.0b013e3181ac9aea
 PMID:12938083
 著者        Eng C
 タイトル      PTEN: one gene, many syndromes.
 雑誌        Hum Mutat 22:183-98 (2003)
 DOI:10.1002/humu.10257
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00539"">H00539</a>","PTEN過誤腫症候群
 下位グループ    カウデン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01222"">H01222</a>]
 Bannayan-Riley-Ruvalcaba 症候群","PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant tumors, especially in Cowden syndrome.",,"PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02119."">H02119.</a>","ICD-11: 2E92.40
 ICD-10: Q85.8 Q87.8 Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566636"">C566636</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567337"">C567337</a>
 OMIM: <a href=""https://www.omim.org/entry/158350"">158350</a> <a href=""https://www.omim.org/entry/153480"">153480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19668082"">19668082</a>
 著者        Hobert JA, Eng C
 タイトル      PTEN hamartoma tumor syndrome: an overview.
 雑誌        Genet Med 11:687-94 (2009)
 DOI:<a href=""https://doi.org/10.1097/GIM.0b013e3181ac9aea"">10.1097/GIM.0b013e3181ac9aea</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12938083"">12938083</a>
 著者        Eng C
 タイトル      PTEN: one gene, many syndromes.
 雑誌        Hum Mutat 22:183-98 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10257"">10.1002/humu.10257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>"
H00540,OLEDAID,,,"A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B.",先天奇形,,IKBKG [HSA:8517] [KO:K07210],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q78.2
 MeSH: C536181
 OMIM: 300301","PMID:21622647
 著者        Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J
 タイトル      New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
 雑誌        Blood 118:926-35 (2011)
 DOI:10.1182/blood-2010-10-315234
 PMID:17670762
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:10.1093/hmg/ddm211
 PMID:16379592
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:10.1089/lrb.2005.3.226
 PMID:16307387
 著者        Balemans W, Van Wesenbeeck L, Van Hul W
 タイトル      A clinical and molecular overview of the human osteopetroses.
 雑誌        Calcif Tissue Int 77:263-74 (2005)
 DOI:10.1007/s00223-005-0027-6
 PMID:17936098
 著者        Del Fattore A, Cappariello A, Teti A
 タイトル      Genetics, pathogenesis and complications of osteopetrosis.
 雑誌        Bone 42:19-29 (2008)
 DOI:10.1016/j.bone.2007.08.029
 PMID:20301306
 著者        Schulz A, Kornak U
 タイトル      CLCN7-Related Osteopetrosis
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00540"">H00540</a>",OLEDAID,"A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B.",,"IKBKG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8517"">8517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07210"">K07210</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q78.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536181"">C536181</a>
 OMIM: <a href=""https://www.omim.org/entry/300301"">300301</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21622647"">21622647</a>
 著者        Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, Belani K, Bodemer C, Fabre I, Plebani A, Boisson-Dupuis S, Picard C, Fischer A, Israel A, Abel L, Veron M, Casanova JL, Agou F, Bustamante J
 タイトル      New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
 雑誌        Blood 118:926-35 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-10-315234"">10.1182/blood-2010-10-315234</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17670762"">17670762</a>
 著者        Brouillard P, Vikkula M
 タイトル      Genetic causes of vascular malformations.
 雑誌        Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm211"">10.1093/hmg/ddm211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16379592"">16379592</a>
 著者        Wang QK
 タイトル      Update on the molecular genetics of vascular anomalies.
 雑誌        Lymphat Res Biol 3:226-33 (2005)
 DOI:<a href=""https://doi.org/10.1089/lrb.2005.3.226"">10.1089/lrb.2005.3.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16307387"">16307387</a>
 著者        Balemans W, Van Wesenbeeck L, Van Hul W
 タイトル      A clinical and molecular overview of the human osteopetroses.
 雑誌        Calcif Tissue Int 77:263-74 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00223-005-0027-6"">10.1007/s00223-005-0027-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17936098"">17936098</a>
 著者        Del Fattore A, Cappariello A, Teti A
 タイトル      Genetics, pathogenesis and complications of osteopetrosis.
 雑誌        Bone 42:19-29 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2007.08.029"">10.1016/j.bone.2007.08.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301306"">20301306</a>
 著者        Schulz A, Kornak U
 タイトル      CLCN7-Related Osteopetrosis
 雑誌        GeneReviews (1993)"
H00541,"常染色体優性遺伝性尿細管間質性腎疾患
 下位グループ    家族性若年性高尿酸血症性腎症 (HNFJ) [DS:H02011]
 髄質性嚢胞腎 [DS:H02012]",,,"Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.",腎疾患,,"(ADTKD1) UMOD [HSA:7369] [KO:K18274]
 (ADTKD2) MUC1 [HSA:4582] [KO:K06568]
 (ADTKD3) HNF1B [HSA:6928] [KO:K08034]
 (ADTKD4) REN [HSA:5972] [KO:K01380]
 (ADTKD5) SEC61A1 [HSA:29927] [KO:K10956]",,,,,,"ICD-11: GB82
 ICD-10: N15 E79.0 Q61.5
 MeSH: C537696
 OMIM: 162000 174000 137920 613092 617056","PMID:25738250
 著者        Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O
 タイトル      Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
 雑誌        Kidney Int 88:676-83 (2015)
 DOI:10.1038/ki.2015.28
 PMID:12471200 (UMOD)
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:10.1136/jmg.39.12.882
 PMID:23396133 (MUC1)
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:10.1038/ng.2543
 PMID:12675839 (HNF1B)
 著者        Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT
 タイトル      Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
 雑誌        Kidney Int 63:1645-51 (2003)
 DOI:10.1046/j.1523-1755.2003.00903.x
 PMID:19664745 (REN)
 著者        Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
 タイトル      Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
 雑誌        Am J Hum Genet 85:204-13 (2009)
 DOI:10.1016/j.ajhg.2009.07.010
 PMID:27392076 (SEC61A1)
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:10.1016/j.ajhg.2016.05.028","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00541"">H00541</a>","常染色体優性遺伝性尿細管間質性腎疾患
 下位グループ    家族性若年性高尿酸血症性腎症 (HNFJ) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02011"">H02011</a>]
 髄質性嚢胞腎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02012"">H02012</a>]","Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.",,"(ADTKD1) UMOD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7369"">7369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18274"">K18274</a>]
 (ADTKD2) MUC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4582"">4582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06568"">K06568</a>]
 (ADTKD3) HNF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6928"">6928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08034"">K08034</a>]
 (ADTKD4) REN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5972"">5972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01380"">K01380</a>]
 (ADTKD5) SEC61A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29927"">29927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10956"">K10956</a>]",,,,,,"ICD-11: GB82
 ICD-10: N15 E79.0 Q61.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537696"">C537696</a>
 OMIM: <a href=""https://www.omim.org/entry/162000"">162000</a> <a href=""https://www.omim.org/entry/174000"">174000</a> <a href=""https://www.omim.org/entry/137920"">137920</a> <a href=""https://www.omim.org/entry/613092"">613092</a> <a href=""https://www.omim.org/entry/617056"">617056</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25738250"">25738250</a>
 著者        Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O
 タイトル      Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
 雑誌        Kidney Int 88:676-83 (2015)
 DOI:<a href=""https://doi.org/10.1038/ki.2015.28"">10.1038/ki.2015.28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12471200"">12471200</a> (UMOD)
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.12.882"">10.1136/jmg.39.12.882</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23396133"">23396133</a> (MUC1)
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2543"">10.1038/ng.2543</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12675839"">12675839</a> (HNF1B)
 著者        Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT
 タイトル      Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
 雑誌        Kidney Int 63:1645-51 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.2003.00903.x"">10.1046/j.1523-1755.2003.00903.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19664745"">19664745</a> (REN)
 著者        Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
 タイトル      Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
 雑誌        Am J Hum Genet 85:204-13 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.07.010"">10.1016/j.ajhg.2009.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27392076"">27392076</a> (SEC61A1)
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.028"">10.1016/j.ajhg.2016.05.028</a>"
H00542,多発性嚢胞腎,,,Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.,先天奇形,,"(PKD1) PKD1 [HSA:5310] [KO:K04985]
 (PKD2) PKD2 [HSA:5311] [KO:K04986]
 (PKD3) GANAB [HSA:23193] [KO:K05546]
 (PKD4) PKHD1 [HSA:5314] [KO:K19865]
 (PKD5) DZIP1L [HSA:199221] [KO:K16470]
 (PKD6) DNAJB11 [HSA:51726] [KO:K09517]",,,,,,"ICD-11: GB81 GB8Y
 ICD-10: Q61.2 Q61.1
 MeSH: D007690
 OMIM: 173900 613095 600666 263200 617610 618061","PMID:21898032
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:10.1007/s00431-011-1553-z
 PMID:21079243
 著者        Chapin HC, Caplan MJ
 タイトル      The cell biology of polycystic kidney disease.
 雑誌        J Cell Biol 191:701-10 (2010)
 DOI:10.1083/jcb.201006173
 PMID:21515270
 著者        Strazzabosco M, Somlo S
 タイトル      Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
 雑誌        Gastroenterology 140:1855-9, 1859.e1 (2011)
 DOI:10.1053/j.gastro.2011.04.030
 PMID:27259053
 著者        Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
 タイトル      Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
 雑誌        Am J Hum Genet 98:1193-207 (2016)
 DOI:10.1016/j.ajhg.2016.05.004
 PMID:28530676
 著者        Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Bruchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wuhl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C
 タイトル      Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
 雑誌        Nat Genet 49:1025-1034 (2017)
 DOI:10.1038/ng.3871
 PMID:29706351
 著者        Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrezet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Ferec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Harris PC
 タイトル      Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
 雑誌        Am J Hum Genet 102:832-844 (2018)
 DOI:10.1016/j.ajhg.2018.03.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00542"">H00542</a>",多発性嚢胞腎,Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.,,"(PKD1) PKD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5310"">5310</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04985"">K04985</a>]
 (PKD2) PKD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5311"">5311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04986"">K04986</a>]
 (PKD3) GANAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23193"">23193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05546"">K05546</a>]
 (PKD4) PKHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5314"">5314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19865"">K19865</a>]
 (PKD5) DZIP1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199221"">199221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16470"">K16470</a>]
 (PKD6) DNAJB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51726"">51726</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09517"">K09517</a>]",,,,,,"ICD-11: GB81 GB8Y
 ICD-10: Q61.2 Q61.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007690"">D007690</a>
 OMIM: <a href=""https://www.omim.org/entry/173900"">173900</a> <a href=""https://www.omim.org/entry/613095"">613095</a> <a href=""https://www.omim.org/entry/600666"">600666</a> <a href=""https://www.omim.org/entry/263200"">263200</a> <a href=""https://www.omim.org/entry/617610"">617610</a> <a href=""https://www.omim.org/entry/618061"">618061</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21898032"">21898032</a>
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1553-z"">10.1007/s00431-011-1553-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21079243"">21079243</a>
 著者        Chapin HC, Caplan MJ
 タイトル      The cell biology of polycystic kidney disease.
 雑誌        J Cell Biol 191:701-10 (2010)
 DOI:<a href=""https://doi.org/10.1083/jcb.201006173"">10.1083/jcb.201006173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21515270"">21515270</a>
 著者        Strazzabosco M, Somlo S
 タイトル      Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
 雑誌        Gastroenterology 140:1855-9, 1859.e1 (2011)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2011.04.030"">10.1053/j.gastro.2011.04.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259053"">27259053</a>
 著者        Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
 タイトル      Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
 雑誌        Am J Hum Genet 98:1193-207 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.004"">10.1016/j.ajhg.2016.05.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28530676"">28530676</a>
 著者        Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Bruchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wuhl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C
 タイトル      Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
 雑誌        Nat Genet 49:1025-1034 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3871"">10.1038/ng.3871</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29706351"">29706351</a>
 著者        Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrezet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Ferec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Harris PC
 タイトル      Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
 雑誌        Am J Hum Genet 102:832-844 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.03.013"">10.1016/j.ajhg.2018.03.013</a>"
H00543,腎・肝・膵異形成,,,Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations cause the disorder.,先天奇形,,"(RHPD1) NPHP3 [HSA:27031] [KO:K19360]
 (RHPD2) NEK8 [HSA:284086] [KO:K20877]",,,,,See also H01435 Congenital asplenia,"MeSH: C567142
 OMIM: 208540 615415","PMID:17605805
 著者        Vankalakunti M, Gupta K, Kakkar N, Das A
 タイトル      Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).
 雑誌        Diagn Pathol 2:24 (2007)
 DOI:10.1186/1746-1596-2-24
 PMID:18371931 (NPHP3)
 著者        Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H
 タイトル      Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
 雑誌        Am J Hum Genet 82:959-70 (2008)
 DOI:10.1016/j.ajhg.2008.02.017
 PMID:23418306 (NEK8)
 著者        Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Gobel H, Nurnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Volker LA, Dotsch J, Nurnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C
 タイトル      Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
 雑誌        Hum Mol Genet 22:2177-85 (2013)
 DOI:10.1093/hmg/ddt070","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00543"">H00543</a>",腎・肝・膵異形成,Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations cause the disorder.,,"(RHPD1) NPHP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27031"">27031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19360"">K19360</a>]
 (RHPD2) NEK8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284086"">284086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20877"">K20877</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01435"">H01435</a> Congenital asplenia","MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567142"">C567142</a>
 OMIM: <a href=""https://www.omim.org/entry/208540"">208540</a> <a href=""https://www.omim.org/entry/615415"">615415</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17605805"">17605805</a>
 著者        Vankalakunti M, Gupta K, Kakkar N, Das A
 タイトル      Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).
 雑誌        Diagn Pathol 2:24 (2007)
 DOI:<a href=""https://doi.org/10.1186/1746-1596-2-24"">10.1186/1746-1596-2-24</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18371931"">18371931</a> (NPHP3)
 著者        Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H
 タイトル      Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
 雑誌        Am J Hum Genet 82:959-70 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.02.017"">10.1016/j.ajhg.2008.02.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23418306"">23418306</a> (NEK8)
 著者        Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Gobel H, Nurnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Volker LA, Dotsch J, Nurnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C
 タイトル      Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
 雑誌        Hum Mol Genet 22:2177-85 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt070"">10.1093/hmg/ddt070</a>"
H00544,"中隔視神経形成異常症
 下位グループ    視神経形成不全 [DS:H02203]",,,"Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction.",先天奇形,,"HESX1 [HSA:8820] [KO:K09354]
 SOX2 [HSA:6657] [KO:K16796]
 SOX3 [HSA:6658] [KO:K09267]
 OTX2 [HSA:5015] [KO:K18490]",,drug and alcohol abuse during pregnancy,,,,"ICD-11: LD20.Y
 ICD-10: Q04.8
 MeSH: D025962
 OMIM: 182230","PMID:10762523
 著者        Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM
 タイトル      Septo-optic dysplasia plus: a spectrum of malformations of cortical development.
 雑誌        Neurology 54:1701-3 (2000)
 DOI:10.1212/WNL.54.8.1701
 PMID:17587179
 著者        Kelberman D, Dattani MT
 タイトル      Genetics of septo-optic dysplasia.
 雑誌        Pituitary 10:393-407 (2007)
 DOI:10.1007/s11102-007-0055-5
 PMID:21396578
 著者        McCabe MJ, Alatzoglou KS, Dattani MT
 タイトル      Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:115-24 (2011)
 DOI:10.1016/j.beem.2010.06.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00544"">H00544</a>","中隔視神経形成異常症
 下位グループ    視神経形成不全 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02203"">H02203</a>]","Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction.",,"HESX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8820"">8820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09354"">K09354</a>]
 SOX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6657"">6657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16796"">K16796</a>]
 SOX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6658"">6658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09267"">K09267</a>]
 OTX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5015"">5015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18490"">K18490</a>]",,drug and alcohol abuse during pregnancy,,,,"ICD-11: LD20.Y
 ICD-10: Q04.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D025962"">D025962</a>
 OMIM: <a href=""https://www.omim.org/entry/182230"">182230</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10762523"">10762523</a>
 著者        Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM
 タイトル      Septo-optic dysplasia plus: a spectrum of malformations of cortical development.
 雑誌        Neurology 54:1701-3 (2000)
 DOI:<a href=""https://doi.org/10.1212/WNL.54.8.1701"">10.1212/WNL.54.8.1701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17587179"">17587179</a>
 著者        Kelberman D, Dattani MT
 タイトル      Genetics of septo-optic dysplasia.
 雑誌        Pituitary 10:393-407 (2007)
 DOI:<a href=""https://doi.org/10.1007/s11102-007-0055-5"">10.1007/s11102-007-0055-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21396578"">21396578</a>
 著者        McCabe MJ, Alatzoglou KS, Dattani MT
 タイトル      Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:115-24 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2010.06.008"">10.1016/j.beem.2010.06.008</a>"
H00545,多嚢胞肝,,,"Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease.",先天奇形,,"(PCLD1) PRKCSH [HSA:5589] [KO:K08288]
 (PCLD2) SEC63 [HSA:11231] [KO:K09540]
 (PCLD3) ALG8 [HSA:79053] [KO:K03849]
 (PCLD4) LRP5 [HSA:4041] [KO:K03068]",,,,,"For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542).","ICD-11: DB99.10
 ICD-10: Q44.6
 MeSH: C536330
 OMIM: 174050 617004 617874 617875","PMID:21515270
 著者        Strazzabosco M, Somlo S
 タイトル      Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
 雑誌        Gastroenterology 140:1855-9, 1859.e1 (2011)
 DOI:10.1053/j.gastro.2011.04.030
 PMID:21790682
 著者        Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F
 タイトル      Systematic review: the pathophysiology and management of polycystic liver disease.
 雑誌        Aliment Pharmacol Ther 34:702-13 (2011)
 DOI:10.1111/j.1365-2036.2011.04783.x
 PMID:12529853 (PRKCSH)
 著者        Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S
 タイトル      Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
 雑誌        Am J Hum Genet 72:691-703 (2003)
 DOI:10.1086/368295
 PMID:15133510 (SEC63)
 著者        Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kaariainen H, Hockerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S
 タイトル      Mutations in SEC63 cause autosomal dominant polycystic liver disease.
 雑誌        Nat Genet 36:575-7 (2004)
 DOI:10.1038/ng1357
 PMID:28375157 (ALG8)
 著者        Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S
 タイトル      Isolated polycystic liver disease genes define effectors of polycystin-1 function.
 雑誌        J Clin Invest 127:1772-1785 (2017)
 DOI:10.1172/JCI90129
 PMID:24706814 (LRP5)
 著者        Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP
 タイトル      Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
 雑誌        Proc Natl Acad Sci U S A 111:5343-8 (2014)
 DOI:10.1073/pnas.1309438111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00545"">H00545</a>",多嚢胞肝,"Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease.",,"(PCLD1) PRKCSH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5589"">5589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08288"">K08288</a>]
 (PCLD2) SEC63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11231"">11231</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09540"">K09540</a>]
 (PCLD3) ALG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79053"">79053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03849"">K03849</a>]
 (PCLD4) LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]",,,,,"For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542).","ICD-11: DB99.10
 ICD-10: Q44.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536330"">C536330</a>
 OMIM: <a href=""https://www.omim.org/entry/174050"">174050</a> <a href=""https://www.omim.org/entry/617004"">617004</a> <a href=""https://www.omim.org/entry/617874"">617874</a> <a href=""https://www.omim.org/entry/617875"">617875</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21515270"">21515270</a>
 著者        Strazzabosco M, Somlo S
 タイトル      Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
 雑誌        Gastroenterology 140:1855-9, 1859.e1 (2011)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2011.04.030"">10.1053/j.gastro.2011.04.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21790682"">21790682</a>
 著者        Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F
 タイトル      Systematic review: the pathophysiology and management of polycystic liver disease.
 雑誌        Aliment Pharmacol Ther 34:702-13 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2036.2011.04783.x"">10.1111/j.1365-2036.2011.04783.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12529853"">12529853</a> (PRKCSH)
 著者        Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S
 タイトル      Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
 雑誌        Am J Hum Genet 72:691-703 (2003)
 DOI:<a href=""https://doi.org/10.1086/368295"">10.1086/368295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15133510"">15133510</a> (SEC63)
 著者        Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kaariainen H, Hockerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S
 タイトル      Mutations in SEC63 cause autosomal dominant polycystic liver disease.
 雑誌        Nat Genet 36:575-7 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1357"">10.1038/ng1357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28375157"">28375157</a> (ALG8)
 著者        Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S
 タイトル      Isolated polycystic liver disease genes define effectors of polycystin-1 function.
 雑誌        J Clin Invest 127:1772-1785 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI90129"">10.1172/JCI90129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24706814"">24706814</a> (LRP5)
 著者        Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP
 タイトル      Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
 雑誌        Proc Natl Acad Sci U S A 111:5343-8 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1309438111"">10.1073/pnas.1309438111</a>"
H00546,心房中隔欠損,,,Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.,先天奇形,,"(ASD2) GATA4 [HSA:2626] [KO:K09183]
 (ASD3) MYH6 [HSA:4624] [KO:K17751]
 (ASD4) TBX20 [HSA:57057] [KO:K10185]
 (ASD5) ACTC1 [HSA:70] [KO:K12314]
 (ASD6) TLL1 [HSA:7092] [KO:K09608]
 (ASD7) NKX2-5 [HSA:1482] [KO:K09345]
 (ASD8) CITED2 [HSA:10370] [KO:K21361]
 (ASD9) GATA6 [HSA:2627] [KO:K17897]",,"Organic solvents
 Anticonvulsants
 Ibuprofen [CPD:C01588]
 Sulfasalazine [CPD:C07316]
 Thalidomide [CPD:C07910]
 Trimethoprim-sulfonamide
 Retinoic acid [CPD:C00777]
 Maternal phenylketonuria
 Maternal progestational diabetes
 Maternal febrile illness
 Maternal influenza
 Maternal rubella
 Maternal epilepsy",,,,"ICD-11: LA8E
 ICD-10: Q21.1
 MeSH: D006344
 OMIM: 108800 607941 614089 611363 612794 613087 108900 614433 614475","PMID:20012542
 著者        Posch MG, Perrot A, Berger F, Ozcelik C
 タイトル      Molecular genetics of congenital atrial septal defects.
 雑誌        Clin Res Cardiol 99:137-47 (2010)
 DOI:10.1007/s00392-009-0095-0
 PMID:11376442
 著者        Vaughan CJ, Basson CT
 タイトル      Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
 雑誌        Am J Med Genet 97:304-9 (2000)
 DOI:10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-#
 PMID:12845333 (GATA4)
 著者        Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D
 タイトル      GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
 雑誌        Nature 424:443-7 (2003)
 DOI:10.1038/nature01827
 PMID:15735645 (MYH6)
 著者        Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD
 タイトル      Mutation in myosin heavy chain 6 causes atrial septal defect.
 雑誌        Nat Genet 37:423-8 (2005)
 DOI:10.1038/ng1526
 PMID:17668378 (TBX20)
 著者        Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP
 タイトル      Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
 雑誌        Am J Hum Genet 81:280-91 (2007)
 DOI:10.1086/519530
 PMID:17947298 (ACTC1)
 著者        Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N
 タイトル      Alpha-cardiac actin mutations produce atrial septal defects.
 雑誌        Hum Mol Genet 17:256-65 (2008)
 DOI:10.1093/hmg/ddm302
 PMID:18830233 (TLL1)
 著者        Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL
 タイトル      Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
 雑誌        Eur J Hum Genet 17:344-51 (2009)
 DOI:10.1038/ejhg.2008.175
 PMID:9651244 (NKX2-5)
 著者        Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG
 タイトル      Congenital heart disease caused by mutations in the transcription factor NKX2-5.
 雑誌        Science 281:108-11 (1998)
 DOI:10.1126/science.281.5373.108
 PMID:16287139 (CITED2)
 著者        Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S
 タイトル      Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
 雑誌        Hum Mutat 26:575-82 (2005)
 DOI:10.1002/humu.20262
 PMID:20631719 (GATA6)
 著者        Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH
 タイトル      A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
 雑誌        J Hum Genet 55:662-7 (2010)
 DOI:10.1038/jhg.2010.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00546"">H00546</a>",心房中隔欠損,Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.,,"(ASD2) GATA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2626"">2626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09183"">K09183</a>]
 (ASD3) MYH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4624"">4624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (ASD4) TBX20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57057"">57057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10185"">K10185</a>]
 (ASD5) ACTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:70"">70</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12314"">K12314</a>]
 (ASD6) TLL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7092"">7092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09608"">K09608</a>]
 (ASD7) NKX2-5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1482"">1482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09345"">K09345</a>]
 (ASD8) CITED2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10370"">10370</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21361"">K21361</a>]
 (ASD9) GATA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2627"">2627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17897"">K17897</a>]",,"Organic solvents
 Anticonvulsants
 Ibuprofen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01588"">C01588</a>]
 Sulfasalazine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07316"">C07316</a>]
 Thalidomide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07910"">C07910</a>]
 Trimethoprim-sulfonamide
 Retinoic acid [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00777"">C00777</a>]
 Maternal phenylketonuria
 Maternal progestational diabetes
 Maternal febrile illness
 Maternal influenza
 Maternal rubella
 Maternal epilepsy",,,,"ICD-11: LA8E
 ICD-10: Q21.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006344"">D006344</a>
 OMIM: <a href=""https://www.omim.org/entry/108800"">108800</a> <a href=""https://www.omim.org/entry/607941"">607941</a> <a href=""https://www.omim.org/entry/614089"">614089</a> <a href=""https://www.omim.org/entry/611363"">611363</a> <a href=""https://www.omim.org/entry/612794"">612794</a> <a href=""https://www.omim.org/entry/613087"">613087</a> <a href=""https://www.omim.org/entry/108900"">108900</a> <a href=""https://www.omim.org/entry/614433"">614433</a> <a href=""https://www.omim.org/entry/614475"">614475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20012542"">20012542</a>
 著者        Posch MG, Perrot A, Berger F, Ozcelik C
 タイトル      Molecular genetics of congenital atrial septal defects.
 雑誌        Clin Res Cardiol 99:137-47 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00392-009-0095-0"">10.1007/s00392-009-0095-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11376442"">11376442</a>
 著者        Vaughan CJ, Basson CT
 タイトル      Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
 雑誌        Am J Med Genet 97:304-9 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(200024)97:"">10.1002/1096-8628(200024)97:</a><a href=""https://doi.org/4<304:"">4<304:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1281>3.0.CO;2-#"">AID-AJMG1281>3.0.CO;2-#</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12845333"">12845333</a> (GATA4)
 著者        Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D
 タイトル      GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
 雑誌        Nature 424:443-7 (2003)
 DOI:<a href=""https://doi.org/10.1038/nature01827"">10.1038/nature01827</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15735645"">15735645</a> (MYH6)
 著者        Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD
 タイトル      Mutation in myosin heavy chain 6 causes atrial septal defect.
 雑誌        Nat Genet 37:423-8 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1526"">10.1038/ng1526</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17668378"">17668378</a> (TBX20)
 著者        Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP
 タイトル      Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
 雑誌        Am J Hum Genet 81:280-91 (2007)
 DOI:<a href=""https://doi.org/10.1086/519530"">10.1086/519530</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17947298"">17947298</a> (ACTC1)
 著者        Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N
 タイトル      Alpha-cardiac actin mutations produce atrial septal defects.
 雑誌        Hum Mol Genet 17:256-65 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm302"">10.1093/hmg/ddm302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18830233"">18830233</a> (TLL1)
 著者        Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL
 タイトル      Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
 雑誌        Eur J Hum Genet 17:344-51 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.175"">10.1038/ejhg.2008.175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9651244"">9651244</a> (NKX2-5)
 著者        Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG
 タイトル      Congenital heart disease caused by mutations in the transcription factor NKX2-5.
 雑誌        Science 281:108-11 (1998)
 DOI:<a href=""https://doi.org/10.1126/science.281.5373.108"">10.1126/science.281.5373.108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16287139"">16287139</a> (CITED2)
 著者        Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S
 タイトル      Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
 雑誌        Hum Mutat 26:575-82 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20262"">10.1002/humu.20262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20631719"">20631719</a> (GATA6)
 著者        Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH
 タイトル      A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
 雑誌        J Hum Genet 55:662-7 (2010)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.84"">10.1038/jhg.2010.84</a>"
H00547,"房室中隔欠損;
 房室管型欠損",,,"Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21).",先天奇形,,"CRELD1 [HSA:78987] [KO:K24335]
 GJA1 [HSA:2697] [KO:K07372]
 GATA4 [HSA:2626] [KO:K09183]
 GATA6 [HSA:2627] [KO:K17897]",,"Organic solvents
 Anticonvulsants
 Ibuprofen [CPD:C01588]
 Sulfasalazine [CPD:C07316]
 Thalidomide [CPD:C07910]
 Trimethoprim-sulfonamide
 Retinoic acid [CPD:C00777]
 Maternal phenylketonuria
 Maternal progestational diabetes
 Maternal febrile illness
 Maternal influenza
 Maternal rubella
 Maternal epilepsy",,,,"ICD-11: LA87.20
 ICD-10: Q21.2
 OMIM: 606217 600309 614430 614474","PMID:15096951
 著者        Maslen CL
 タイトル      Molecular genetics of atrioventricular septal defects.
 雑誌        Curr Opin Cardiol 19:205-10 (2004)
 DOI:10.1097/00001573-200405000-00003
 PMID:11376442
 著者        Vaughan CJ, Basson CT
 タイトル      Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
 雑誌        Am J Med Genet 97:304-9 (2000)
 DOI:10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-#
 PMID:17519397 (env_factor)
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:10.1161/CIRCULATIONAHA.106.183216
 PMID:7805255
 著者        Payne RM, Johnson MC, Grant JW, Strauss AW
 タイトル      Toward a molecular understanding of congenital heart disease.
 雑誌        Circulation 91:494-504 (1995)
 DOI:10.1161/01.CIR.91.2.494
 PMID:11470490
 著者        Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
 タイトル      Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
 雑誌        Mutat Res 479:173-86 (2001)
 DOI:10.1016/S0027-5107(01)00160-9
 PMID:17643447
 著者        Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT
 タイトル      Spectrum of heart disease associated with murine and human GATA4 mutation.
 雑誌        J Mol Cell Cardiol 43:677-85 (2007)
 DOI:10.1016/j.yjmcc.2007.06.004
 PMID:20581743
 著者        Maitra M, Koenig SN, Srivastava D, Garg V
 タイトル      Identification of GATA6 sequence variants in patients with congenital heart defects.
 雑誌        Pediatr Res 68:281-5 (2010)
 DOI:10.1203/00006450-201011001-00549","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00547"">H00547</a>","房室中隔欠損;
 房室管型欠損","Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21).",,"CRELD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:78987"">78987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24335"">K24335</a>]
 GJA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2697"">2697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07372"">K07372</a>]
 GATA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2626"">2626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09183"">K09183</a>]
 GATA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2627"">2627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17897"">K17897</a>]",,"Organic solvents
 Anticonvulsants
 Ibuprofen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01588"">C01588</a>]
 Sulfasalazine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07316"">C07316</a>]
 Thalidomide [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07910"">C07910</a>]
 Trimethoprim-sulfonamide
 Retinoic acid [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00777"">C00777</a>]
 Maternal phenylketonuria
 Maternal progestational diabetes
 Maternal febrile illness
 Maternal influenza
 Maternal rubella
 Maternal epilepsy",,,,"ICD-11: LA87.20
 ICD-10: Q21.2
 OMIM: <a href=""https://www.omim.org/entry/606217"">606217</a> <a href=""https://www.omim.org/entry/600309"">600309</a> <a href=""https://www.omim.org/entry/614430"">614430</a> <a href=""https://www.omim.org/entry/614474"">614474</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096951"">15096951</a>
 著者        Maslen CL
 タイトル      Molecular genetics of atrioventricular septal defects.
 雑誌        Curr Opin Cardiol 19:205-10 (2004)
 DOI:<a href=""https://doi.org/10.1097/00001573-200405000-00003"">10.1097/00001573-200405000-00003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11376442"">11376442</a>
 著者        Vaughan CJ, Basson CT
 タイトル      Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
 雑誌        Am J Med Genet 97:304-9 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(200024)97:"">10.1002/1096-8628(200024)97:</a><a href=""https://doi.org/4<304:"">4<304:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1281>3.0.CO;2-#"">AID-AJMG1281>3.0.CO;2-#</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17519397"">17519397</a> (env_factor)
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.106.183216"">10.1161/CIRCULATIONAHA.106.183216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7805255"">7805255</a>
 著者        Payne RM, Johnson MC, Grant JW, Strauss AW
 タイトル      Toward a molecular understanding of congenital heart disease.
 雑誌        Circulation 91:494-504 (1995)
 DOI:<a href=""https://doi.org/10.1161/01.CIR.91.2.494"">10.1161/01.CIR.91.2.494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11470490"">11470490</a>
 著者        Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
 タイトル      Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
 雑誌        Mutat Res 479:173-86 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0027-5107(01)00160-9"">10.1016/S0027-5107(01)00160-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17643447"">17643447</a>
 著者        Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT
 タイトル      Spectrum of heart disease associated with murine and human GATA4 mutation.
 雑誌        J Mol Cell Cardiol 43:677-85 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yjmcc.2007.06.004"">10.1016/j.yjmcc.2007.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20581743"">20581743</a>
 著者        Maitra M, Koenig SN, Srivastava D, Garg V
 タイトル      Identification of GATA6 sequence variants in patients with congenital heart defects.
 雑誌        Pediatr Res 68:281-5 (2010)
 DOI:<a href=""https://doi.org/10.1203/00006450-201011001-00549"">10.1203/00006450-201011001-00549</a>"
H00548,"ブルンナー症候群;
 MAOA欠損症",,,"Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine.",先天性代謝異常症,,MAOA [HSA:4128] [KO:K00274],,,,,,"ICD-11: 5C59.0Y
 ICD-10: F54 E70.8
 MeSH: C563156
 OMIM: 300615","PMID:8211186
 著者        Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
 タイトル      Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
 雑誌        Science 262:578-80 (1993)
 DOI:10.1126/science.8211186
 PMID:17295220
 著者        Craig IW
 タイトル      The importance of stress and genetic variation in human aggression.
 雑誌        Bioessays 29:227-36 (2007)
 DOI:10.1002/bies.20538
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501
 PMID:8862875
 著者        Brunner HG
 タイトル      MAOA deficiency and abnormal behaviour: perspectives on an association.
 雑誌        Ciba Found Symp 194:155-64; discussion 164-7 (1996)
 DOI:10.1002/9780470514825.ch9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00548"">H00548</a>","ブルンナー症候群;
 MAOA欠損症","Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine.",,"MAOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4128"">4128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00274"">K00274</a>]",,,,,,"ICD-11: 5C59.0Y
 ICD-10: F54 E70.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563156"">C563156</a>
 OMIM: <a href=""https://www.omim.org/entry/300615"">300615</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8211186"">8211186</a>
 著者        Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
 タイトル      Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
 雑誌        Science 262:578-80 (1993)
 DOI:<a href=""https://doi.org/10.1126/science.8211186"">10.1126/science.8211186</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17295220"">17295220</a>
 著者        Craig IW
 タイトル      The importance of stress and genetic variation in human aggression.
 雑誌        Bioessays 29:227-36 (2007)
 DOI:<a href=""https://doi.org/10.1002/bies.20538"">10.1002/bies.20538</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8862875"">8862875</a>
 著者        Brunner HG
 タイトル      MAOA deficiency and abnormal behaviour: perspectives on an association.
 雑誌        Ciba Found Symp 194:155-64; discussion 164-7 (1996)
 DOI:<a href=""https://doi.org/10.1002/9780470514825.ch9"">10.1002/9780470514825.ch9</a>"
H00549,ファロー四徴症,,,"The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.",先天奇形,,"NKX2-5 [HSA:1482] [KO:K09345]
 JAG1 [HSA:182] [KO:K06052]
 ZFPM2 [HSA:23414] [KO:K17442]
 GATA4 [HSA:2626] [KO:K09183]
 GATA6 [HSA:2627] [KO:K17897]
 TBX1 [HSA:6899] [KO:K10175]
 GDF1 [HSA:2657] [KO:K05495]",,Organic solvents,,カルテオロール塩酸塩 [DR:D00599],,"ICD-11: LA88.2
 ICD-10: Q21.3
 MeSH: D013771
 OMIM: 187500","PMID:17519397
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:10.1161/CIRCULATIONAHA.106.183216
 PMID:19818949
 著者        Di Felice V, Zummo G
 タイトル      Tetralogy of fallot as a model to study cardiac progenitor cell migration and differentiation during heart development.
 雑誌        Trends Cardiovasc Med 19:130-5 (2009)
 DOI:10.1016/j.tcm.2009.07.004
 PMID:10587520 (NKX2-5)
 著者        Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD
 タイトル      Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
 雑誌        J Clin Invest 104:1567-73 (1999)
 DOI:10.1172/JCI8154
 PMID:11152664 (JAG1)
 著者        Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC
 タイトル      Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
 雑誌        Hum Mol Genet 10:163-9 (2001)
 DOI:10.1093/hmg/10.2.163
 PMID:14517948 (ZFPM2)
 著者        Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B
 タイトル      Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
 雑誌        Hum Mutat 22:372-7 (2003)
 DOI:10.1002/humu.10261
 PMID:18055909 (GATA4)
 著者        Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E
 タイトル      GATA4 sequence variants in patients with congenital heart disease.
 雑誌        J Med Genet 44:779-83 (2007)
 DOI:10.1136/jmg.2007.052183
 PMID:20631719 (GATA6)
 著者        Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH
 タイトル      A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
 雑誌        J Hum Genet 55:662-7 (2010)
 DOI:10.1038/jhg.2010.84
 PMID:19948535 (TBX1)
 著者        Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A
 タイトル      Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
 雑誌        J Med Genet 47:321-31 (2010)
 DOI:10.1136/jmg.2009.070391
 PMID:17924340 (GDF1)
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:10.1086/522890","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00549"">H00549</a>",ファロー四徴症,"The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.",,"NKX2-5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1482"">1482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09345"">K09345</a>]
 JAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:182"">182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06052"">K06052</a>]
 ZFPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23414"">23414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17442"">K17442</a>]
 GATA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2626"">2626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09183"">K09183</a>]
 GATA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2627"">2627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17897"">K17897</a>]
 TBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6899"">6899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10175"">K10175</a>]
 GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]",,Organic solvents,,"カルテオロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00599"">D00599</a>]",,"ICD-11: LA88.2
 ICD-10: Q21.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013771"">D013771</a>
 OMIM: <a href=""https://www.omim.org/entry/187500"">187500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17519397"">17519397</a>
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.106.183216"">10.1161/CIRCULATIONAHA.106.183216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19818949"">19818949</a>
 著者        Di Felice V, Zummo G
 タイトル      Tetralogy of fallot as a model to study cardiac progenitor cell migration and differentiation during heart development.
 雑誌        Trends Cardiovasc Med 19:130-5 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.tcm.2009.07.004"">10.1016/j.tcm.2009.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10587520"">10587520</a> (NKX2-5)
 著者        Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD
 タイトル      Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
 雑誌        J Clin Invest 104:1567-73 (1999)
 DOI:<a href=""https://doi.org/10.1172/JCI8154"">10.1172/JCI8154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11152664"">11152664</a> (JAG1)
 著者        Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC
 タイトル      Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
 雑誌        Hum Mol Genet 10:163-9 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.2.163"">10.1093/hmg/10.2.163</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14517948"">14517948</a> (ZFPM2)
 著者        Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B
 タイトル      Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
 雑誌        Hum Mutat 22:372-7 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10261"">10.1002/humu.10261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18055909"">18055909</a> (GATA4)
 著者        Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E
 タイトル      GATA4 sequence variants in patients with congenital heart disease.
 雑誌        J Med Genet 44:779-83 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052183"">10.1136/jmg.2007.052183</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20631719"">20631719</a> (GATA6)
 著者        Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH
 タイトル      A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
 雑誌        J Hum Genet 55:662-7 (2010)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.84"">10.1038/jhg.2010.84</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19948535"">19948535</a> (TBX1)
 著者        Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A
 タイトル      Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
 雑誌        J Med Genet 47:321-31 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.070391"">10.1136/jmg.2009.070391</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924340"">17924340</a> (GDF1)
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:<a href=""https://doi.org/10.1086/522890"">10.1086/522890</a>"
H00550,完全大血管転位症,,,"Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle, resulting in severe cyanosis. Transposition of the great arteries (TGA) is frequently associated with other cardiac malformations such as ventricular septal defect. TGA is divided into three groups. Group I is TGA with intact ventricular septum. Group II is TGA with ventricular septal defect. Group III is TGA/VSD with pulmonary stenosis.",先天奇形,,"MED13L [HSA:23389] [KO:K15164]
 CFC1 [HSA:55997] [KO:K25454]
 GDF1 [HSA:2657] [KO:K05495]",,"Organic solvents
 Maternal progestational diabetes
 Maternal influenza
 Ibuprofen [CPD:C01588]",,,,"ICD-11: LA85.1
 ICD-10: Q20.3
 MeSH: D014188
 OMIM: 608808 613853 613854","PMID:18851735
 著者        Martins P, Castela E
 タイトル      Transposition of the great arteries.
 雑誌        Orphanet J Rare Dis 3:27 (2008)
 DOI:10.1186/1750-1172-3-27
 PMID:17159076
 著者        Warnes CA
 タイトル      Transposition of the great arteries.
 雑誌        Circulation 114:2699-709 (2006)
 DOI:10.1161/CIRCULATIONAHA.105.592352
 PMID:21532774
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:10.2174/157340310791162703
 PMID:17519397 (env_factor)
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:10.1161/CIRCULATIONAHA.106.183216
 PMID:23403903
 著者        Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A
 タイトル      Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
 雑誌        Eur J Hum Genet 21:1100-4 (2013)
 DOI:10.1038/ejhg.2013.17
 PMID:11799476
 著者        Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M
 タイトル      CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
 雑誌        Am J Hum Genet 70:776-80 (2002)
 DOI:10.1086/339079
 PMID:17924340
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:10.1086/522890
 PMID:23133484 (drug)
 著者        Hong SJ, Choi HJ, Kim YH, Hyun MC, Lee SB, Cho JY
 タイトル      Clinical features and surgical outcomes of complete transposition of the great arteries.
 雑誌        Korean J Pediatr 55:377-82 (2012)
 DOI:10.3345/kjp.2012.55.10.377","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00550"">H00550</a>",完全大血管転位症,"Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle, resulting in severe cyanosis. Transposition of the great arteries (TGA) is frequently associated with other cardiac malformations such as ventricular septal defect. TGA is divided into three groups. Group I is TGA with intact ventricular septum. Group II is TGA with ventricular septal defect. Group III is TGA/VSD with pulmonary stenosis.",,"MED13L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23389"">23389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15164"">K15164</a>]
 CFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55997"">55997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25454"">K25454</a>]
 GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]",,"Organic solvents
 Maternal progestational diabetes
 Maternal influenza
 Ibuprofen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01588"">C01588</a>]",,,,"ICD-11: LA85.1
 ICD-10: Q20.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014188"">D014188</a>
 OMIM: <a href=""https://www.omim.org/entry/608808"">608808</a> <a href=""https://www.omim.org/entry/613853"">613853</a> <a href=""https://www.omim.org/entry/613854"">613854</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18851735"">18851735</a>
 著者        Martins P, Castela E
 タイトル      Transposition of the great arteries.
 雑誌        Orphanet J Rare Dis 3:27 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-27"">10.1186/1750-1172-3-27</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17159076"">17159076</a>
 著者        Warnes CA
 タイトル      Transposition of the great arteries.
 雑誌        Circulation 114:2699-709 (2006)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.105.592352"">10.1161/CIRCULATIONAHA.105.592352</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21532774"">21532774</a>
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:<a href=""https://doi.org/10.2174/157340310791162703"">10.2174/157340310791162703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17519397"">17519397</a> (env_factor)
 著者        Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
 タイトル      Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
 雑誌        Circulation 115:2995-3014 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.106.183216"">10.1161/CIRCULATIONAHA.106.183216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23403903"">23403903</a>
 著者        Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A
 タイトル      Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
 雑誌        Eur J Hum Genet 21:1100-4 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.17"">10.1038/ejhg.2013.17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11799476"">11799476</a>
 著者        Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M
 タイトル      CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
 雑誌        Am J Hum Genet 70:776-80 (2002)
 DOI:<a href=""https://doi.org/10.1086/339079"">10.1086/339079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924340"">17924340</a>
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:<a href=""https://doi.org/10.1086/522890"">10.1086/522890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23133484"">23133484</a> (drug)
 著者        Hong SJ, Choi HJ, Kim YH, Hyun MC, Lee SB, Cho JY
 タイトル      Clinical features and surgical outcomes of complete transposition of the great arteries.
 雑誌        Korean J Pediatr 55:377-82 (2012)
 DOI:<a href=""https://doi.org/10.3345/kjp.2012.55.10.377"">10.3345/kjp.2012.55.10.377</a>"
H00551,アラジール症候群,,,Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS.,先天奇形,,"(ALGS1) JAG1 [HSA:182] [KO:K06052]
 (ALGS2) NOTCH2 [HSA:4853] [KO:K20994]",,,,,,"ICD-11: LB20.Y
 ICD-10: Q44.7
 MeSH: D016738
 OMIM: 118450 610205","PMID:21532774
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:10.2174/157340310791162703
 PMID:16773578
 著者        McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB
 タイトル      NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
 雑誌        Am J Hum Genet 79:169-73 (2006)
 DOI:10.1086/505332
 PMID:17600784
 著者        Shifley ET, Cole SE
 タイトル      The vertebrate segmentation clock and its role in skeletal birth defects.
 雑誌        Birth Defects Res C Embryo Today 81:121-33 (2007)
 DOI:10.1002/bdrc.20090","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00551"">H00551</a>",アラジール症候群,Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS.,,"(ALGS1) JAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:182"">182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06052"">K06052</a>]
 (ALGS2) NOTCH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4853"">4853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20994"">K20994</a>]",,,,,,"ICD-11: LB20.Y
 ICD-10: Q44.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016738"">D016738</a>
 OMIM: <a href=""https://www.omim.org/entry/118450"">118450</a> <a href=""https://www.omim.org/entry/610205"">610205</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21532774"">21532774</a>
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:<a href=""https://doi.org/10.2174/157340310791162703"">10.2174/157340310791162703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16773578"">16773578</a>
 著者        McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB
 タイトル      NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
 雑誌        Am J Hum Genet 79:169-73 (2006)
 DOI:<a href=""https://doi.org/10.1086/505332"">10.1086/505332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17600784"">17600784</a>
 著者        Shifley ET, Cole SE
 タイトル      The vertebrate segmentation clock and its role in skeletal birth defects.
 雑誌        Birth Defects Res C Embryo Today 81:121-33 (2007)
 DOI:<a href=""https://doi.org/10.1002/bdrc.20090"">10.1002/bdrc.20090</a>"
H00552,"Xp21欠失症候群
 下位グループ    グリセロールキナーゼ欠損 [DS:H02013]
 X連鎖性アジソン病 [DS:H01598]
 ディシェンヌ型筋ジストロフィ [DS:H01963]",,,Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both.,染色体異常,,,,,,,,"ICD-11: LD51
 ICD-10: Q99.8
 OMIM: 300679","PMID:11032329
 著者        Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
 タイトル      Isolated and contiguous glycerol kinase gene disorders: a review.
 雑誌        J Inherit Metab Dis 23:529-47 (2000)
 DOI:10.1023/A:1005660826652
 PMID:16887896
 著者        Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE
 タイトル      A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
 雑誌        Clin Chem 52:1864-70 (2006)
 DOI:10.1373/clinchem.2006.072397
 PMID:17406644
 著者        Rahib L, MacLennan NK, Horvath S, Liao JC, Dipple KM
 タイトル      Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
 雑誌        Eur J Hum Genet 15:646-57 (2007)
 DOI:10.1038/sj.ejhg.5201801
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00552"">H00552</a>","Xp21欠失症候群
 下位グループ    グリセロールキナーゼ欠損 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02013"">H02013</a>]
 X連鎖性アジソン病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01598"">H01598</a>]
 ディシェンヌ型筋ジストロフィ [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01963"">H01963</a>]",Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both.,,,,,,,,"ICD-11: LD51
 ICD-10: Q99.8
 OMIM: <a href=""https://www.omim.org/entry/300679"">300679</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11032329"">11032329</a>
 著者        Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
 タイトル      Isolated and contiguous glycerol kinase gene disorders: a review.
 雑誌        J Inherit Metab Dis 23:529-47 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005660826652"">1005660826652</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16887896"">16887896</a>
 著者        Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE
 タイトル      A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
 雑誌        Clin Chem 52:1864-70 (2006)
 DOI:<a href=""https://doi.org/10.1373/clinchem.2006.072397"">10.1373/clinchem.2006.072397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17406644"">17406644</a>
 著者        Rahib L, MacLennan NK, Horvath S, Liao JC, Dipple KM
 タイトル      Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
 雑誌        Eur J Hum Genet 15:646-57 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201801"">10.1038/sj.ejhg.5201801</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>"
H00553,大動脈弁上狭窄,,,Congenital supravalvar aortic stenosis is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene.,先天奇形,,ELN [HSA:2006] [KO:K14211],,,,,,"ICD-11: LA8A.3
 ICD-10: Q25.3
 OMIM: 185500","PMID:19022009
 著者        Hickey EJ, Jung G, Williams WG, Manlhiot C, Van Arsdell GS, Caldarone CA, Coles J, McCrindle BW
 タイトル      Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes.
 雑誌        Ann Thorac Surg 86:1919-27; discussion 1927 (2008)
 DOI:10.1016/j.athoracsur.2008.08.031
 PMID:11167112
 著者        Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ
 タイトル      Congenital supravalvar aortic stenosis: a simple lesion?
 雑誌        Eur J Cardiothorac Surg 19:195-202 (2001)
 DOI:10.1016/s1010-7940(00)00647-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00553"">H00553</a>",大動脈弁上狭窄,Congenital supravalvar aortic stenosis is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene.,,"ELN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2006"">2006</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14211"">K14211</a>]",,,,,,"ICD-11: LA8A.3
 ICD-10: Q25.3
 OMIM: <a href=""https://www.omim.org/entry/185500"">185500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19022009"">19022009</a>
 著者        Hickey EJ, Jung G, Williams WG, Manlhiot C, Van Arsdell GS, Caldarone CA, Coles J, McCrindle BW
 タイトル      Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes.
 雑誌        Ann Thorac Surg 86:1919-27; discussion 1927 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.athoracsur.2008.08.031"">10.1016/j.athoracsur.2008.08.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11167112"">11167112</a>
 著者        Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ
 タイトル      Congenital supravalvar aortic stenosis: a simple lesion?
 雑誌        Eur J Cardiothorac Surg 19:195-202 (2001)
 DOI:<a href=""https://doi.org/10.1016/s1010-7940(00)00647-3"">10.1016/s1010-7940(00)00647-3</a>"
H00554,"大動脈弁疾患;
 二尖大動脈弁",,,"Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.",先天奇形,,"(AOVD1) NOTCH1 [HSA:4851] [KO:K02599]
 (AOVD2) SMAD6 [HSA:4091] [KO:K04677]
 (AOVD3) ROBO4 [HSA:54538] [KO:K06784]",,,,,,"ICD-11: LA8A.22
 ICD-10: Q23.1
 MeSH: D006349
 OMIM: 109730 614823 618496","PMID:21532774
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:10.2174/157340310791162703
 PMID:21181071
 著者        Yuan SM, Jing H
 タイトル      The bicuspid aortic valve and related disorders.
 雑誌        Sao Paulo Med J 128:296-301 (2010)
 DOI:10.1590/S1516-31802010000500010
 PMID:20579534
 著者        Siu SC, Silversides CK
 タイトル      Bicuspid aortic valve disease.
 雑誌        J Am Coll Cardiol 55:2789-800 (2010)
 DOI:10.1016/j.jacc.2009.12.068
 PMID:22275001
 著者        Tan HL, Glen E, Topf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD
 タイトル      Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
 雑誌        Hum Mutat 33:720-7 (2012)
 DOI:10.1002/humu.22030
 PMID:30455415
 著者        Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wunnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Bjork HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC
 タイトル      ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
 雑誌        Nat Genet 51:42-50 (2019)
 DOI:10.1038/s41588-018-0265-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00554"">H00554</a>","大動脈弁疾患;
 二尖大動脈弁","Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.",,"(AOVD1) NOTCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4851"">4851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02599"">K02599</a>]
 (AOVD2) SMAD6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4091"">4091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04677"">K04677</a>]
 (AOVD3) ROBO4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54538"">54538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06784"">K06784</a>]",,,,,,"ICD-11: LA8A.22
 ICD-10: Q23.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006349"">D006349</a>
 OMIM: <a href=""https://www.omim.org/entry/109730"">109730</a> <a href=""https://www.omim.org/entry/614823"">614823</a> <a href=""https://www.omim.org/entry/618496"">618496</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21532774"">21532774</a>
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:<a href=""https://doi.org/10.2174/157340310791162703"">10.2174/157340310791162703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21181071"">21181071</a>
 著者        Yuan SM, Jing H
 タイトル      The bicuspid aortic valve and related disorders.
 雑誌        Sao Paulo Med J 128:296-301 (2010)
 DOI:<a href=""https://doi.org/10.1590/S1516-31802010000500010"">10.1590/S1516-31802010000500010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20579534"">20579534</a>
 著者        Siu SC, Silversides CK
 タイトル      Bicuspid aortic valve disease.
 雑誌        J Am Coll Cardiol 55:2789-800 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2009.12.068"">10.1016/j.jacc.2009.12.068</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22275001"">22275001</a>
 著者        Tan HL, Glen E, Topf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD
 タイトル      Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
 雑誌        Hum Mutat 33:720-7 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22030"">10.1002/humu.22030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30455415"">30455415</a>
 著者        Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wunnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Bjork HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC
 タイトル      ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
 雑誌        Nat Genet 51:42-50 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41588-018-0265-y"">10.1038/s41588-018-0265-y</a>"
H00555,Char 症候群,,,"Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of the fifth digits.",先天奇形,,TFAP2B [HSA:7021] [KO:K09176],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C566815
 OMIM: 169100","PMID:21532774
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:10.2174/157340310791162703
 PMID:10802654
 著者        Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD
 タイトル      Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
 雑誌        Nat Genet 25:42-6 (2000)
 DOI:10.1038/75578
 PMID:20301285
 著者        Gelb BD
 タイトル      Char Syndrome
 雑誌        GeneReviews (1993)
 PMID:1342853
 著者        Temple IK
 タイトル      Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).
 雑誌        Clin Dysmorphol 1:17-21 (1992)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00555"">H00555</a>",Char 症候群,"Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of the fifth digits.",,"TFAP2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7021"">7021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09176"">K09176</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566815"">C566815</a>
 OMIM: <a href=""https://www.omim.org/entry/169100"">169100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21532774"">21532774</a>
 著者        Richards AA, Garg V
 タイトル      Genetics of congenital heart disease.
 雑誌        Curr Cardiol Rev 6:91-7 (2010)
 DOI:<a href=""https://doi.org/10.2174/157340310791162703"">10.2174/157340310791162703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10802654"">10802654</a>
 著者        Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD
 タイトル      Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
 雑誌        Nat Genet 25:42-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/75578"">10.1038/75578</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301285"">20301285</a>
 著者        Gelb BD
 タイトル      Char Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1342853"">1342853</a>
 著者        Temple IK
 タイトル      Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).
 雑誌        Clin Dysmorphol 1:17-21 (1992)"
H00556,チャージ症候群,,,"CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies/deafness. Abnormal semicircular canals, arhinencephaly, and rhombencephalic dysfunctions are also considered as important features. Nearly 2/3 of cases harbor mutations within the CHD7 gene.",先天奇形,,"CHD7 [HSA:55636] [KO:K14437]
 SEMA3E [HSA:9723] [KO:K06840]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: D058747
 OMIM: 214800","PMID:20363513
 著者        Pampal A
 タイトル      CHARGE: an association or a syndrome?
 雑誌        Int J Pediatr Otorhinolaryngol 74:719-22 (2010)
 DOI:10.1016/j.ijporl.2010.03.019
 PMID:17299439
 著者        Sanlaville D, Verloes A
 タイトル      CHARGE syndrome: an update.
 雑誌        Eur J Hum Genet 15:389-99 (2007)
 DOI:10.1038/sj.ejhg.5201778
 PMID:15235037
 著者        Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW
 タイトル      SEMA3E mutation in a patient with CHARGE syndrome.
 雑誌        J Med Genet 41:e94 (2004)
 DOI:10.1136/jmg.2003.017640","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00556"">H00556</a>",チャージ症候群,"CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies/deafness. Abnormal semicircular canals, arhinencephaly, and rhombencephalic dysfunctions are also considered as important features. Nearly 2/3 of cases harbor mutations within the CHD7 gene.",,"CHD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55636"">55636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14437"">K14437</a>]
 SEMA3E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9723"">9723</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06840"">K06840</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058747"">D058747</a>
 OMIM: <a href=""https://www.omim.org/entry/214800"">214800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20363513"">20363513</a>
 著者        Pampal A
 タイトル      CHARGE: an association or a syndrome?
 雑誌        Int J Pediatr Otorhinolaryngol 74:719-22 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ijporl.2010.03.019"">10.1016/j.ijporl.2010.03.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17299439"">17299439</a>
 著者        Sanlaville D, Verloes A
 タイトル      CHARGE syndrome: an update.
 雑誌        Eur J Hum Genet 15:389-99 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201778"">10.1038/sj.ejhg.5201778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15235037"">15235037</a>
 著者        Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW
 タイトル      SEMA3E mutation in a patient with CHARGE syndrome.
 雑誌        J Med Genet 41:e94 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.017640"">10.1136/jmg.2003.017640</a>"
H00557,"皮膚弛緩症
 下位グループ    常染色体優性遺伝性皮膚弛緩症 (ADCL)
 常染色体劣性遺伝性皮膚弛緩症 (ARCL)
 Wrinkly skin 症候群 (WSS)",,,"Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.",先天奇形,,"(ADCL1) ELN [HSA:2006] [KO:K14211]
 (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340]
 (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657]
 (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866]
 (ARCL1C) LTBP4 [HSA:8425] [KO:K08023]
 (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154]
 (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286]
 (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150]
 (ARCL2D) ATP6V1A [HSA:523] [KO:K02145]
 (ARCL2E) LTBP1 [HSA:4052] [KO:K19559]",,,,,,"ICD-11: EE41.0
 ICD-10: Q82.8
 MeSH: D003483
 OMIM: 123700 614434 616603 219100 614437 613177 219200 612940 617402 219150 614438 617403 619451","PMID:19401719
 著者        Morava E, Guillard M, Lefeber DJ, Wevers RA
 タイトル      Autosomal recessive cutis laxa syndrome revisited.
 雑誌        Eur J Hum Genet 17:1099-110 (2009)
 DOI:10.1038/ejhg.2009.22
 PMID:16780467
 著者        Gupta N, Phadke SR
 タイトル      Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.
 雑誌        Pediatr Dermatol 23:225-30 (2006)
 DOI:10.1111/j.1525-1470.2006.00222.x
 PMID:21309044 (ELN)
 著者        Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z
 タイトル      New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
 雑誌        Hum Mutat 32:445-55 (2011)
 DOI:10.1002/humu.21462
 PMID:12618961 (FBLN5)
 著者        Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML
 タイトル      Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
 雑誌        Am J Hum Genet 72:998-1004 (2003)
 DOI:10.1086/373940
 PMID:21739576 (ALDH18A1)
 著者        Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP
 タイトル      Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS).
 雑誌        Am J Med Genet A 155A:1848-56 (2011)
 DOI:10.1002/ajmg.a.34057
 PMID:16685658 (EFEMP2)
 著者        Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z
 タイトル      Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
 雑誌        Am J Hum Genet 78:1075-80 (2006)
 DOI:10.1086/504304
 PMID:19836010 (LTBP4)
 著者        Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC
 タイトル      Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
 雑誌        Am J Hum Genet 85:593-605 (2009)
 DOI:10.1016/j.ajhg.2009.09.013
 PMID:18157129 (ATP6V0A2)
 著者        Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
 タイトル      Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
 雑誌        Nat Genet 40:32-4 (2008)
 DOI:10.1038/ng.2007.45
 PMID:19648921 (PYCR1)
 著者        Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
 タイトル      Mutations in PYCR1 cause cutis laxa with progeroid features.
 雑誌        Nat Genet 41:1016-21 (2009)
 DOI:10.1038/ng.413
 PMID:28065471 (ATP6V1E1 ATP6V1A)
 著者        Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA
 タイトル      Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
 雑誌        Am J Hum Genet 100:216-227 (2017)
 DOI:10.1016/j.ajhg.2016.12.010
 PMID:33991472 (LTBP1)
 著者        Pottie L, Adamo CS, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B
 タイトル      Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
 雑誌        Am J Hum Genet 108:1095-1114 (2021)
 DOI:10.1016/j.ajhg.2021.04.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00557"">H00557</a>","皮膚弛緩症
 下位グループ    常染色体優性遺伝性皮膚弛緩症 (ADCL)
 常染色体劣性遺伝性皮膚弛緩症 (ARCL)
 Wrinkly skin 症候群 (WSS)","Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.",,"(ADCL1) ELN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2006"">2006</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14211"">K14211</a>]
 (ADCL2/ARCL1A) FBLN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10516"">10516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17340"">K17340</a>]
 (ADCL3/ARCL3A) ALDH18A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5832"">5832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12657"">K12657</a>]
 (ARCL1B) EFEMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30008"">30008</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19866"">K19866</a>]
 (ARCL1C) LTBP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8425"">8425</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]
 (ARCL2A/WSS) ATP6V0A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23545"">23545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02154"">K02154</a>]
 (ARCL2B/ARCL3B) PYCR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5831"">5831</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00286"">K00286</a>]
 (ARCL2C) ATP6V1E1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:529"">529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02150"">K02150</a>]
 (ARCL2D) ATP6V1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:523"">523</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02145"">K02145</a>]
 (ARCL2E) LTBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4052"">4052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19559"">K19559</a>]",,,,,,"ICD-11: EE41.0
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003483"">D003483</a>
 OMIM: <a href=""https://www.omim.org/entry/123700"">123700</a> <a href=""https://www.omim.org/entry/614434"">614434</a> <a href=""https://www.omim.org/entry/616603"">616603</a> <a href=""https://www.omim.org/entry/219100"">219100</a> <a href=""https://www.omim.org/entry/614437"">614437</a> <a href=""https://www.omim.org/entry/613177"">613177</a> <a href=""https://www.omim.org/entry/219200"">219200</a> <a href=""https://www.omim.org/entry/612940"">612940</a> <a href=""https://www.omim.org/entry/617402"">617402</a> <a href=""https://www.omim.org/entry/219150"">219150</a> <a href=""https://www.omim.org/entry/614438"">614438</a> <a href=""https://www.omim.org/entry/617403"">617403</a> <a href=""https://www.omim.org/entry/619451"">619451</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19401719"">19401719</a>
 著者        Morava E, Guillard M, Lefeber DJ, Wevers RA
 タイトル      Autosomal recessive cutis laxa syndrome revisited.
 雑誌        Eur J Hum Genet 17:1099-110 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.22"">10.1038/ejhg.2009.22</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16780467"">16780467</a>
 著者        Gupta N, Phadke SR
 タイトル      Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.
 雑誌        Pediatr Dermatol 23:225-30 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2006.00222.x"">10.1111/j.1525-1470.2006.00222.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21309044"">21309044</a> (ELN)
 著者        Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z
 タイトル      New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
 雑誌        Hum Mutat 32:445-55 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21462"">10.1002/humu.21462</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12618961"">12618961</a> (FBLN5)
 著者        Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML
 タイトル      Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
 雑誌        Am J Hum Genet 72:998-1004 (2003)
 DOI:<a href=""https://doi.org/10.1086/373940"">10.1086/373940</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21739576"">21739576</a> (ALDH18A1)
 著者        Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP
 タイトル      Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS).
 雑誌        Am J Med Genet A 155A:1848-56 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34057"">10.1002/ajmg.a.34057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16685658"">16685658</a> (EFEMP2)
 著者        Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z
 タイトル      Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
 雑誌        Am J Hum Genet 78:1075-80 (2006)
 DOI:<a href=""https://doi.org/10.1086/504304"">10.1086/504304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19836010"">19836010</a> (LTBP4)
 著者        Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC
 タイトル      Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
 雑誌        Am J Hum Genet 85:593-605 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.013"">10.1016/j.ajhg.2009.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18157129"">18157129</a> (ATP6V0A2)
 著者        Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
 タイトル      Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
 雑誌        Nat Genet 40:32-4 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.45"">10.1038/ng.2007.45</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19648921"">19648921</a> (PYCR1)
 著者        Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
 タイトル      Mutations in PYCR1 cause cutis laxa with progeroid features.
 雑誌        Nat Genet 41:1016-21 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.413"">10.1038/ng.413</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28065471"">28065471</a> (ATP6V1E1 <a href=""https://pubmed.ncbi.nlm.nih.gov/ATP6V1A)"">ATP6V1A)</a>
 著者        Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA
 タイトル      Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
 雑誌        Am J Hum Genet 100:216-227 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.12.010"">10.1016/j.ajhg.2016.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33991472"">33991472</a> (LTBP1)
 著者        Pottie L, Adamo CS, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B
 タイトル      Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
 雑誌        Am J Hum Genet 108:1095-1114 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.04.016"">10.1016/j.ajhg.2021.04.016</a>"
H00558,老人様皮膚萎縮骨形成異常症,,,"Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.",先天奇形,,"SCYL1BP1 [HSA:92344] [KO:K19748]
 PYCR1 [HSA:5831] [KO:K00286]",,,,,,"ICD-11: LD2B
 ICD-10: Q82.9
 MeSH: C537799
 OMIM: 231070 612940","PMID:19401719
 著者        Morava E, Guillard M, Lefeber DJ, Wevers RA
 タイトル      Autosomal recessive cutis laxa syndrome revisited.
 雑誌        Eur J Hum Genet 17:1099-110 (2009)
 DOI:10.1038/ejhg.2009.22
 PMID:18348262
 著者        Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, Mundlos S
 タイトル      Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
 雑誌        Am J Med Genet A 146A:965-76 (2008)
 DOI:10.1002/ajmg.a.32143
 PMID:18997784
 著者        Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kuhnisch J, Budde B, Natebus M, Brancati F, Wilcox WR, Muller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nurnberg P, Wieacker P, Mundlos S
 タイトル      Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
 雑誌        Nat Genet 40:1410-2 (2008)
 DOI:10.1038/ng.252
 PMID:21204221
 著者        Yildirim Y, Tolun A, Tuysuz B
 タイトル      The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
 雑誌        Am J Med Genet A 155A:134-40 (2011)
 DOI:10.1002/ajmg.a.33747","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00558"">H00558</a>",老人様皮膚萎縮骨形成異常症,"Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.",,"SCYL1BP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92344"">92344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19748"">K19748</a>]
 PYCR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5831"">5831</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00286"">K00286</a>]",,,,,,"ICD-11: LD2B
 ICD-10: Q82.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537799"">C537799</a>
 OMIM: <a href=""https://www.omim.org/entry/231070"">231070</a> <a href=""https://www.omim.org/entry/612940"">612940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19401719"">19401719</a>
 著者        Morava E, Guillard M, Lefeber DJ, Wevers RA
 タイトル      Autosomal recessive cutis laxa syndrome revisited.
 雑誌        Eur J Hum Genet 17:1099-110 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.22"">10.1038/ejhg.2009.22</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18348262"">18348262</a>
 著者        Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, Mundlos S
 タイトル      Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
 雑誌        Am J Med Genet A 146A:965-76 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32143"">10.1002/ajmg.a.32143</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18997784"">18997784</a>
 著者        Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kuhnisch J, Budde B, Natebus M, Brancati F, Wilcox WR, Muller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nurnberg P, Wieacker P, Mundlos S
 タイトル      Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
 雑誌        Nat Genet 40:1410-2 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.252"">10.1038/ng.252</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21204221"">21204221</a>
 著者        Yildirim Y, Tolun A, Tuysuz B
 タイトル      The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
 雑誌        Am J Med Genet A 155A:134-40 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33747"">10.1002/ajmg.a.33747</a>"
H00559,フォンヒッペル・リンダウ症候群,,,"von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis.",先天奇形,,"VHL [HSA:7428] [KO:K03871]
 CCND1 [HSA:595] [KO:K04503]",,,,,,"ICD-11: LD2D.Y
 ICD-10: Q85.8
 MeSH: D006623
 OMIM: 193300","PMID:21386872
 著者        Maher ER, Neumann HP, Richard S
 タイトル      von Hippel-Lindau disease: a clinical and scientific review.
 雑誌        Eur J Hum Genet 19:617-23 (2011)
 DOI:10.1038/ejhg.2010.175
 PMID:16818478
 著者        Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S
 タイトル      Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment.
 雑誌        Jpn J Clin Oncol 36:337-43 (2006)
 DOI:10.1093/jjco/hyl052
 PMID:15611513 (VHL)
 著者        Kim WY, Kaelin WG.
 タイトル      Role of VHL gene mutation in human cancer.
 雑誌        J Clin Oncol 22:4991-5004 (2004)
 DOI:10.1200/JCO.2004.05.061
 PMID:12097293 (CCND1)
 著者        Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER
 タイトル      Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
 雑誌        Cancer Res 62:3803-11 (2002)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00559"">H00559</a>",フォンヒッペル・リンダウ症候群,"von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis.",,"VHL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7428"">7428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03871"">K03871</a>]
 CCND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]",,,,,,"ICD-11: LD2D.Y
 ICD-10: Q85.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006623"">D006623</a>
 OMIM: <a href=""https://www.omim.org/entry/193300"">193300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21386872"">21386872</a>
 著者        Maher ER, Neumann HP, Richard S
 タイトル      von Hippel-Lindau disease: a clinical and scientific review.
 雑誌        Eur J Hum Genet 19:617-23 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.175"">10.1038/ejhg.2010.175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16818478"">16818478</a>
 著者        Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S
 タイトル      Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment.
 雑誌        Jpn J Clin Oncol 36:337-43 (2006)
 DOI:<a href=""https://doi.org/10.1093/jjco/hyl052"">10.1093/jjco/hyl052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15611513"">15611513</a> (VHL)
 著者        Kim WY, Kaelin WG.
 タイトル      Role of VHL gene mutation in human cancer.
 雑誌        J Clin Oncol 22:4991-5004 (2004)
 DOI:<a href=""https://doi.org/10.1200/JCO.2004.05.061"">10.1200/JCO.2004.05.061</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12097293"">12097293</a> (CCND1)
 著者        Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER
 タイトル      Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
 雑誌        Cancer Res 62:3803-11 (2002)"
H00560,"弾性線維性仮性黄色腫
 下位グループ    不完全型弾性線維性仮性黄色腫
 凝固因子欠損を伴う弾性線維性仮性黄色腫様疾患",,,"Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported.",先天奇形,,"(PXE) ABCC6 [HSA:368] [KO:K05669]
 (PXE) XYLT1 [HSA:64131] [KO:K00771]
 (PXE) XYLT2 [HSA:64132] [KO:K00771]
 (PXE-like) GGCX [HSA:2677] [KO:K10106]",,,,,,"ICD-11: EC40
 ICD-10: Q82.8
 MeSH: D011561
 OMIM: 264800 177850 610842","PMID:19054062
 著者        Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J
 タイトル      Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
 雑誌        Exp Dermatol 18:1-11 (2009)
 DOI:10.1111/j.1600-0625.2008.00795.x
 PMID:16604369 (ABCC6)
 著者        Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
 タイトル      ABCC6 and pseudoxanthoma elasticum.
 雑誌        Pflugers Arch 453:685-91 (2007)
 DOI:10.1007/s00424-005-0039-0
 PMID:16571645 (XYLT1, XYLT2)
 著者        Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C
 タイトル      Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
 雑誌        J Med Genet 43:745-9 (2006)
 DOI:10.1136/jmg.2006.040972
 PMID:19116367 (GGCX)
 著者        Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW
 タイトル      Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
 雑誌        Am J Pathol 174:534-40 (2009)
 DOI:10.2353/ajpath.2009.080865
 PMID:11756149
 著者        Aessopos A, Farmakis D, Loukopoulos D
 タイトル      Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes.
 雑誌        Blood 99:30-5 (2002)
 DOI:10.1182/blood.V99.1.30","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00560"">H00560</a>","弾性線維性仮性黄色腫
 下位グループ    不完全型弾性線維性仮性黄色腫
 凝固因子欠損を伴う弾性線維性仮性黄色腫様疾患","Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported.",,"(PXE) ABCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:368"">368</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05669"">K05669</a>]
 (PXE) XYLT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64131"">64131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00771"">K00771</a>]
 (PXE) XYLT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64132"">64132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00771"">K00771</a>]
 (PXE-like) GGCX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2677"">2677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10106"">K10106</a>]",,,,,,"ICD-11: EC40
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011561"">D011561</a>
 OMIM: <a href=""https://www.omim.org/entry/264800"">264800</a> <a href=""https://www.omim.org/entry/177850"">177850</a> <a href=""https://www.omim.org/entry/610842"">610842</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19054062"">19054062</a>
 著者        Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J
 タイトル      Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
 雑誌        Exp Dermatol 18:1-11 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.2008.00795.x"">10.1111/j.1600-0625.2008.00795.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16604369"">16604369</a> (ABCC6)
 著者        Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
 タイトル      ABCC6 and pseudoxanthoma elasticum.
 雑誌        Pflugers Arch 453:685-91 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00424-005-0039-0"">10.1007/s00424-005-0039-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16571645"">16571645</a> (XYLT1, <a href=""https://pubmed.ncbi.nlm.nih.gov/XYLT2)"">XYLT2)</a>
 著者        Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C
 タイトル      Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
 雑誌        J Med Genet 43:745-9 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.040972"">10.1136/jmg.2006.040972</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19116367"">19116367</a> (GGCX)
 著者        Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW
 タイトル      Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
 雑誌        Am J Pathol 174:534-40 (2009)
 DOI:<a href=""https://doi.org/10.2353/ajpath.2009.080865"">10.2353/ajpath.2009.080865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11756149"">11756149</a>
 著者        Aessopos A, Farmakis D, Loukopoulos D
 タイトル      Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes.
 雑誌        Blood 99:30-5 (2002)
 DOI:<a href=""https://doi.org/10.1182/blood.V99.1.30"">10.1182/blood.V99.1.30</a>"
H00561,"短指症-精神遅滞症候群;
 2q37 欠失症候群",,,"Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.",染色体異常,,HDAC4 [HSA:9759] [KO:K11406],,,,,"See also H1791 Smith-Magenis syndrome.
 For Albright hereditary osteodystrophy, see H00501.","ICD-11: LD44.20
 ICD-10: Q93.5
 MeSH: C538317
 OMIM: 600430","PMID:20691407
 著者        Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH
 タイトル      Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
 雑誌        Am J Hum Genet 87:219-28 (2010)
 DOI:10.1016/j.ajhg.2010.07.011
 PMID:7847374
 著者        Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.
 タイトル      Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
 雑誌        Am J Hum Genet 56:400-7 (1995)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00561"">H00561</a>","短指症-精神遅滞症候群;
 2q37 欠失症候群","Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.",,"HDAC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9759"">9759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11406"">K11406</a>]",,,,,"See also H1791 Smith-Magenis syndrome.
 For Albright hereditary osteodystrophy, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00501."">H00501.</a>","ICD-11: LD44.20
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538317"">C538317</a>
 OMIM: <a href=""https://www.omim.org/entry/600430"">600430</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20691407"">20691407</a>
 著者        Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH
 タイトル      Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
 雑誌        Am J Hum Genet 87:219-28 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.07.011"">10.1016/j.ajhg.2010.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7847374"">7847374</a>
 著者        Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.
 タイトル      Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
 雑誌        Am J Hum Genet 56:400-7 (1995)"
H00562,"ジストロフィン異常症
 下位グループ    デュシェンヌ型筋ジストロフィー [DS:H01963]
 ベッカー型筋ジストロフィー [DS:H01964]
 X連鎖拡張型心筋症 [DS:H00294]",,,"Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare disorder with rapidly progressive cardiomyopathy but almost no skeletal muscle impairment. Absence of the dystrophin protein (DMD) and reduced levels or abnormal configuration of dystrophin (BMD) leads to membrane fragility making muscle cells susceptible to damage from contraction. Secondary increase in free radicals and activation of calcium-dependent proteases are thought to further contribute to muscle degeneration.",神経系疾患; 筋骨格疾患,,DMD [HSA:1756] [KO:K10366],,,,,,"ICD-11: 8C70
 ICD-10: G71.0
 MeSH: D020388
 OMIM: 310200 300376 302045","PMID:20627570
 著者        Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG
 タイトル      Hereditary muscular dystrophies and the heart.
 雑誌        Neuromuscul Disord 20:479-92 (2010)
 DOI:10.1016/j.nmd.2010.04.008
 PMID:11879882
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:10.1016/S0140-6736(02)07815-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00562"">H00562</a>","ジストロフィン異常症
 下位グループ    デュシェンヌ型筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01963"">H01963</a>]
 ベッカー型筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01964"">H01964</a>]
 X連鎖拡張型心筋症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00294"">H00294</a>]","Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare disorder with rapidly progressive cardiomyopathy but almost no skeletal muscle impairment. Absence of the dystrophin protein (DMD) and reduced levels or abnormal configuration of dystrophin (BMD) leads to membrane fragility making muscle cells susceptible to damage from contraction. Secondary increase in free radicals and activation of calcium-dependent proteases are thought to further contribute to muscle degeneration.",,"DMD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1756"">1756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10366"">K10366</a>]",,,,,,"ICD-11: 8C70
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020388"">D020388</a>
 OMIM: <a href=""https://www.omim.org/entry/310200"">310200</a> <a href=""https://www.omim.org/entry/300376"">300376</a> <a href=""https://www.omim.org/entry/302045"">302045</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20627570"">20627570</a>
 著者        Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG
 タイトル      Hereditary muscular dystrophies and the heart.
 雑誌        Neuromuscul Disord 20:479-92 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2010.04.008"">10.1016/j.nmd.2010.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11879882"">11879882</a>
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(02)07815-7"">10.1016/S0140-6736(02)07815-7</a>"
H00563,エメリー・ドレフュス型筋ジストロフィー,,,"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.",神経系疾患; 筋骨格疾患,,"(EDMD1) EMD [HSA:2010] [KO:K12569]
 (EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641]
 (EDMD4) SYNE1 [HSA:23345] [KO:K19326]
 (EDMD5) SYNE2 [HSA:23224] [KO:K19346]
 (EDMD6) FHL1 [HSA:2273] [KO:K14365]
 (EDMD7) TMEM43 [HSA:79188]",,,,,,"ICD-11: 8C70.2
 ICD-10: G71.0
 MeSH: C535734
 OMIM: 310300 181350 612998 612999 300696 614302","PMID:20301609
 著者        Bonne G, Leturcq F, Ben Yaou R
 タイトル      Emery-Dreifuss Muscular Dystrophy
 雑誌        GeneReviews (1993)
 PMID:11879882
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:10.1016/S0140-6736(02)07815-7
 PMID:7894480 (EMD)
 著者        Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D
 タイトル      Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
 雑誌        Nat Genet 8:323-7 (1994)
 DOI:10.1038/ng1294-323
 PMID:10739764 (LMNA)
 著者        Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
 タイトル      Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
 雑誌        Am J Hum Genet 66:1407-12 (2000)
 DOI:10.1086/302869
 PMID:17761684 (SYNE1 SYNE2)
 著者        Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM
 タイトル      Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
 雑誌        Hum Mol Genet 16:2816-33 (2007)
 DOI:10.1093/hmg/ddm238
 PMID:19716112 (FHL1)
 著者        Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G
 タイトル      Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
 雑誌        Am J Hum Genet 85:338-53 (2009)
 DOI:10.1016/j.ajhg.2009.07.015
 PMID:21391237 (TMEM43)
 著者        Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
 タイトル      TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
 雑誌        Ann Neurol 69:1005-13 (2011)
 DOI:10.1002/ana.22338","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00563"">H00563</a>",エメリー・ドレフュス型筋ジストロフィー,"Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.",,"(EDMD1) EMD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2010"">2010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12569"">K12569</a>]
 (EDMD2 EDMD3) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (EDMD4) SYNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23345"">23345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19326"">K19326</a>]
 (EDMD5) SYNE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23224"">23224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19346"">K19346</a>]
 (EDMD6) FHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2273"">2273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14365"">K14365</a>]
 (EDMD7) TMEM43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79188"">79188</a>]",,,,,,"ICD-11: 8C70.2
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535734"">C535734</a>
 OMIM: <a href=""https://www.omim.org/entry/310300"">310300</a> <a href=""https://www.omim.org/entry/181350"">181350</a> <a href=""https://www.omim.org/entry/612998"">612998</a> <a href=""https://www.omim.org/entry/612999"">612999</a> <a href=""https://www.omim.org/entry/300696"">300696</a> <a href=""https://www.omim.org/entry/614302"">614302</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301609"">20301609</a>
 著者        Bonne G, Leturcq F, Ben Yaou R
 タイトル      Emery-Dreifuss Muscular Dystrophy
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11879882"">11879882</a>
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(02)07815-7"">10.1016/S0140-6736(02)07815-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7894480"">7894480</a> (EMD)
 著者        Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D
 タイトル      Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
 雑誌        Nat Genet 8:323-7 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng1294-323"">10.1038/ng1294-323</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10739764"">10739764</a> (LMNA)
 著者        Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
 タイトル      Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
 雑誌        Am J Hum Genet 66:1407-12 (2000)
 DOI:<a href=""https://doi.org/10.1086/302869"">10.1086/302869</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17761684"">17761684</a> (SYNE1 <a href=""https://pubmed.ncbi.nlm.nih.gov/SYNE2)"">SYNE2)</a>
 著者        Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM
 タイトル      Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
 雑誌        Hum Mol Genet 16:2816-33 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm238"">10.1093/hmg/ddm238</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19716112"">19716112</a> (FHL1)
 著者        Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G
 タイトル      Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
 雑誌        Am J Hum Genet 85:338-53 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.07.015"">10.1016/j.ajhg.2009.07.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21391237"">21391237</a> (TMEM43)
 著者        Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
 タイトル      TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
 雑誌        Ann Neurol 69:1005-13 (2011)
 DOI:<a href=""https://doi.org/10.1002/ana.22338"">10.1002/ana.22338</a>"
H00564,"原発性繊毛ジスキネジア
 下位グループ    カータジェナー症候群",,,"Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome.",呼吸器疾患,,"(CILD1) DNAI1 [HSA:27019] [KO:K10409]
 (CILD2) DNAAF3 [HSA:352909] [KO:K19752]
 (CILD3) DNAH5 [HSA:1767] [KO:K10408]
 (CILD5) HYDIN [HSA:54768] [KO:K17570]
 (CILD6) TXNDC3 [HSA:51314] [KO:K19868]
 (CILD7) DNAH11 [HSA:8701] [KO:K10408]
 (CILD9) DNAI2 [HSA:64446] [KO:K11143]
 (CILD10) KTU [HSA:55172] [KO:K19751]
 (CILD11) RSPH4A [HSA:345895] [KO:K19756]
 (CILD12) RSPH9 [HSA:221421] [KO:K19757]
 (CILD13) LRRC50 [HSA:123872] [KO:K19750]
 (CILD14) CCDC39 [HSA:339829] [KO:K23729]
 (CILD15) CCDC40 [HSA:55036] [KO:K23730]
 (CILD16) DNAL1 [HSA:83544] [KO:K10411]
 (CILD17) CCDC103 [HSA:388389] [KO:K23731]
 (CILD18) HEATR2 [HSA:54919] [KO:K19759]
 (CILD19) LRRC6 [HSA:23639] [KO:K19753]
 (CILD20) CCDC114 [HSA:93233] [KO:K23732]
 (CILD21) DRC1 [HSA:92749] [KO:K19754]
 (CILD22) ZMYND10 [HSA:51364] [KO:K24030]
 (CILD23) ARMC4 [HSA:55130] [KO:K24125]
 (CILD24) RSPH1 [HSA:89765] [KO:K19755]
 (CILD25) DYX1C1 [HSA:161582] [KO:K19758]
 (CILD26) C21ORF59 [HSA:56683] [KO:K24229]
 (CILD27) CCDC65 [HSA:85478] [KO:K23728]
 (CILD28) SPAG1 [HSA:6674] [KO:K19870]
 (CILD29) CCNO [HSA:10309] [KO:K10861]
 (CILD30) CCDC151 [HSA:115948] [KO:K23733]
 (CILD32) RSPH3 [HSA:83861] [KO:K23965]
 (CILD33) GAS8 [HSA:2622] [KO:K19942]
 (CILD34) DNAJB13 [HSA:374407] [KO:K09519]
 (CILD35) TTC25 [HSA:83538] [KO:K24254]
 (CILD36) PIH1D3 [HSA:139212] [KO:K24253]
 (CILD37) DNAH1 [HSA:25981] [KO:K10408]
 (CILD38) CFAP300 [HSA:85016] [KO:K24230]
 (CILD39) LRRC56 [HSA:115399] [KO:K25425]
 (CILD40) DNAH9 [HSA:1770] [KO:K10408]
 (CILD41) GAS2L2 [HSA:246176] [KO:K24627]
 (CILD42) MCIDAS [HSA:345643] [KO:K10749]
 (CILD43) FOXJ1 [HSA:2302] [KO:K09402]
 (CILD44) NEK10 [HSA:152110] [KO:K20879]
 (CILD45) TTC12 [HSA:54970] [KO:K24652]
 (CILD46) STK36 [HSA:27148] [KO:K06228]
 (CILD47) TP73 [HSA:7161] [KO:K10148]",,,,,,"ICD-11: LA75.Y
 ICD-10: J98.0
 MeSH: D007619
 OMIM: 244400 606763 608644 608647 610852 611884 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 615294 615444 615451 615481 615482 615500 615504 615505 615872 616037 616481 616726 617091 617092 300991 617577 618063 618254 618300 618449 618695 618699 618781 618801 619436 619466","PMID:21898032
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:10.1007/s00431-011-1553-z
 PMID:19606528
 著者        Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
 タイトル      Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
 雑誌        Genet Med 11:473-87 (2009)
 DOI:10.1097/GIM.0b013e3181a53562
 PMID:21926394
 著者        Zariwala MA, Omran H, Ferkol TW
 タイトル      The emerging genetics of primary ciliary dyskinesia.
 雑誌        Proc Am Thorac Soc 8:430-3 (2011)
 DOI:10.1513/pats.201103-023SD
 PMID:17059358
 著者        Zariwala MA, Knowles MR, Omran H
 タイトル      Genetic defects in ciliary structure and function.
 雑誌        Annu Rev Physiol 69:423-50 (2007)
 DOI:10.1146/annurev.physiol.69.040705.141301
 PMID:22387996
 著者        Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR
 タイトル      Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
 雑誌        Nat Genet 44:381-9, S1-2 (2012)
 DOI:10.1038/ng.1106
 PMID:23022101
 著者        Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H
 タイトル      Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
 雑誌        Am J Hum Genet 91:672-84 (2012)
 DOI:10.1016/j.ajhg.2012.08.016
 PMID:23255504
 著者        Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
 タイトル      Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
 雑誌        Hum Mutat 34:462-72 (2013)
 DOI:10.1002/humu.22261
 PMID:21496787
 著者        Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
 タイトル      Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
 雑誌        Am J Hum Genet 88:599-607 (2011)
 DOI:10.1016/j.ajhg.2011.03.018
 PMID:22581229
 著者        Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA
 タイトル      CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
 雑誌        Nat Genet 44:714-9 (2012)
 DOI:10.1038/ng.2277
 PMID:23040496
 著者        Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW
 タイトル      Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 91:685-93 (2012)
 DOI:10.1016/j.ajhg.2012.08.022
 PMID:23122589
 著者        Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Toure A, Escudier E, Amselem S
 タイトル      Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 91:958-64 (2012)
 DOI:10.1016/j.ajhg.2012.10.003
 PMID:23261302
 著者        Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA
 タイトル      Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 92:99-106 (2013)
 DOI:10.1016/j.ajhg.2012.11.003
 PMID:23354437
 著者        Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlen B, Horak E, Kohler G, Nurnberg P, Nurnberg G, Porter ME, Omran H
 タイトル      The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
 雑誌        Nat Genet 45:262-8 (2013)
 DOI:10.1038/ng.2533
 PMID:23891471
 著者        Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM
 タイトル      Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 93:346-56 (2013)
 DOI:10.1016/j.ajhg.2013.07.009
 PMID:23849778
 著者        Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H
 タイトル      ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
 雑誌        Am J Hum Genet 93:357-67 (2013)
 DOI:10.1016/j.ajhg.2013.06.009
 PMID:23993197
 著者        Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S
 タイトル      Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
 雑誌        Am J Hum Genet 93:561-70 (2013)
 DOI:10.1016/j.ajhg.2013.07.013
 PMID:23872636
 著者        Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H
 タイトル      DYX1C1 is required for axonemal dynein assembly and ciliary motility.
 雑誌        Nat Genet 45:995-1003 (2013)
 DOI:10.1038/ng.2707
 PMID:24094744
 著者        Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F
 タイトル      Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
 雑誌        Am J Hum Genet 93:672-86 (2013)
 DOI:10.1016/j.ajhg.2013.08.015
 PMID:24055112
 著者        Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA
 タイトル      Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
 雑誌        Am J Hum Genet 93:711-20 (2013)
 DOI:10.1016/j.ajhg.2013.07.025
 PMID:24747639
 著者        Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Kohler G, Jaspers M, Boon M, Griese M, Schmitt-Grohe S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H
 タイトル      Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
 雑誌        Nat Genet 46:646-51 (2014)
 DOI:10.1038/ng.2961
 PMID:24067530
 著者        Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B
 タイトル      The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.
 雑誌        Hum Mol Genet 23:563-77 (2014)
 DOI:10.1093/hmg/ddt445
 PMID:26073779
 著者        Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Desir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M
 タイトル      RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
 雑誌        Am J Hum Genet 97:153-62 (2015)
 DOI:10.1016/j.ajhg.2015.05.004
 PMID:26387594
 著者        Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmuller J, Rommelmann F, Omran H
 タイトル      Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
 雑誌        Am J Hum Genet 97:546-54 (2015)
 DOI:10.1016/j.ajhg.2015.08.012
 PMID:27486783
 著者        El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lores P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Toure A, Amselem S
 タイトル      Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
 雑誌        Am J Hum Genet 99:489-500 (2016)
 DOI:10.1016/j.ajhg.2016.06.022
 PMID:27486780
 著者        Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H
 タイトル      TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
 雑誌        Am J Hum Genet 99:460-9 (2016)
 DOI:10.1016/j.ajhg.2016.06.014
 PMID:28041644
 著者        Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D
 タイトル      Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
 雑誌        Am J Hum Genet 100:160-168 (2017)
 DOI:10.1016/j.ajhg.2016.11.019
 PMID:29727692
 著者        Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM
 タイトル      C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
 雑誌        Am J Hum Genet 102:956-972 (2018)
 DOI:10.1016/j.ajhg.2018.03.024
 PMID:30665704
 著者        Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabert L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE
 タイトル      Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
 雑誌        Am J Hum Genet 104:229-245 (2019)
 DOI:10.1016/j.ajhg.2018.12.009
 PMID:31978331
 著者        Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Toure A, Mitchell V, Amselem S, Legendre M
 タイトル      TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
 雑誌        Am J Hum Genet 106:153-169 (2020)
 DOI:10.1016/j.ajhg.2019.12.010
 PMID:34361034
 著者        Brennan SK, Ferkol TW, Davis SD
 タイトル      Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.
 雑誌        Int J Mol Sci 22:8272 (2021)
 DOI:10.3390/ijms22158272","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00564"">H00564</a>","原発性繊毛ジスキネジア
 下位グループ    カータジェナー症候群","Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome.",,"(CILD1) DNAI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27019"">27019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10409"">K10409</a>]
 (CILD2) DNAAF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:352909"">352909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19752"">K19752</a>]
 (CILD3) DNAH5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1767"">1767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (CILD5) HYDIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54768"">54768</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17570"">K17570</a>]
 (CILD6) TXNDC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51314"">51314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19868"">K19868</a>]
 (CILD7) DNAH11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8701"">8701</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (CILD9) DNAI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64446"">64446</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11143"">K11143</a>]
 (CILD10) KTU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55172"">55172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19751"">K19751</a>]
 (CILD11) RSPH4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345895"">345895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19756"">K19756</a>]
 (CILD12) RSPH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221421"">221421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19757"">K19757</a>]
 (CILD13) LRRC50 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123872"">123872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19750"">K19750</a>]
 (CILD14) CCDC39 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:339829"">339829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23729"">K23729</a>]
 (CILD15) CCDC40 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55036"">55036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23730"">K23730</a>]
 (CILD16) DNAL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83544"">83544</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10411"">K10411</a>]
 (CILD17) CCDC103 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388389"">388389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23731"">K23731</a>]
 (CILD18) HEATR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54919"">54919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19759"">K19759</a>]
 (CILD19) LRRC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23639"">23639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19753"">K19753</a>]
 (CILD20) CCDC114 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93233"">93233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23732"">K23732</a>]
 (CILD21) DRC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92749"">92749</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19754"">K19754</a>]
 (CILD22) ZMYND10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51364"">51364</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24030"">K24030</a>]
 (CILD23) ARMC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55130"">55130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24125"">K24125</a>]
 (CILD24) RSPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89765"">89765</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19755"">K19755</a>]
 (CILD25) DYX1C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:161582"">161582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19758"">K19758</a>]
 (CILD26) C21ORF59 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56683"">56683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24229"">K24229</a>]
 (CILD27) CCDC65 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85478"">85478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23728"">K23728</a>]
 (CILD28) SPAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6674"">6674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19870"">K19870</a>]
 (CILD29) CCNO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10309"">10309</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10861"">K10861</a>]
 (CILD30) CCDC151 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:115948"">115948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23733"">K23733</a>]
 (CILD32) RSPH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83861"">83861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23965"">K23965</a>]
 (CILD33) GAS8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2622"">2622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19942"">K19942</a>]
 (CILD34) DNAJB13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374407"">374407</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09519"">K09519</a>]
 (CILD35) TTC25 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83538"">83538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24254"">K24254</a>]
 (CILD36) PIH1D3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:139212"">139212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24253"">K24253</a>]
 (CILD37) DNAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25981"">25981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (CILD38) CFAP300 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85016"">85016</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24230"">K24230</a>]
 (CILD39) LRRC56 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:115399"">115399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25425"">K25425</a>]
 (CILD40) DNAH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1770"">1770</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (CILD41) GAS2L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:246176"">246176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24627"">K24627</a>]
 (CILD42) MCIDAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345643"">345643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10749"">K10749</a>]
 (CILD43) FOXJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2302"">2302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09402"">K09402</a>]
 (CILD44) NEK10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:152110"">152110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20879"">K20879</a>]
 (CILD45) TTC12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54970"">54970</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24652"">K24652</a>]
 (CILD46) STK36 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27148"">27148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06228"">K06228</a>]
 (CILD47) TP73 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7161"">7161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10148"">K10148</a>]",,,,,,"ICD-11: LA75.Y
 ICD-10: J98.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007619"">D007619</a>
 OMIM: <a href=""https://www.omim.org/entry/244400"">244400</a> <a href=""https://www.omim.org/entry/606763"">606763</a> <a href=""https://www.omim.org/entry/608644"">608644</a> <a href=""https://www.omim.org/entry/608647"">608647</a> <a href=""https://www.omim.org/entry/610852"">610852</a> <a href=""https://www.omim.org/entry/611884"">611884</a> <a href=""https://www.omim.org/entry/612444"">612444</a> <a href=""https://www.omim.org/entry/612518"">612518</a> <a href=""https://www.omim.org/entry/612649"">612649</a> <a href=""https://www.omim.org/entry/612650"">612650</a> <a href=""https://www.omim.org/entry/613193"">613193</a> <a href=""https://www.omim.org/entry/613807"">613807</a> <a href=""https://www.omim.org/entry/613808"">613808</a> <a href=""https://www.omim.org/entry/614017"">614017</a> <a href=""https://www.omim.org/entry/614679"">614679</a> <a href=""https://www.omim.org/entry/614874"">614874</a> <a href=""https://www.omim.org/entry/614935"">614935</a> <a href=""https://www.omim.org/entry/615067"">615067</a> <a href=""https://www.omim.org/entry/615294"">615294</a> <a href=""https://www.omim.org/entry/615444"">615444</a> <a href=""https://www.omim.org/entry/615451"">615451</a> <a href=""https://www.omim.org/entry/615481"">615481</a> <a href=""https://www.omim.org/entry/615482"">615482</a> <a href=""https://www.omim.org/entry/615500"">615500</a> <a href=""https://www.omim.org/entry/615504"">615504</a> <a href=""https://www.omim.org/entry/615505"">615505</a> <a href=""https://www.omim.org/entry/615872"">615872</a> <a href=""https://www.omim.org/entry/616037"">616037</a> <a href=""https://www.omim.org/entry/616481"">616481</a> <a href=""https://www.omim.org/entry/616726"">616726</a> <a href=""https://www.omim.org/entry/617091"">617091</a> <a href=""https://www.omim.org/entry/617092"">617092</a> <a href=""https://www.omim.org/entry/300991"">300991</a> <a href=""https://www.omim.org/entry/617577"">617577</a> <a href=""https://www.omim.org/entry/618063"">618063</a> <a href=""https://www.omim.org/entry/618254"">618254</a> <a href=""https://www.omim.org/entry/618300"">618300</a> <a href=""https://www.omim.org/entry/618449"">618449</a> <a href=""https://www.omim.org/entry/618695"">618695</a> <a href=""https://www.omim.org/entry/618699"">618699</a> <a href=""https://www.omim.org/entry/618781"">618781</a> <a href=""https://www.omim.org/entry/618801"">618801</a> <a href=""https://www.omim.org/entry/619436"">619436</a> <a href=""https://www.omim.org/entry/619466"">619466</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21898032"">21898032</a>
 著者        Bergmann C
 タイトル      Educational paper: ciliopathies.
 雑誌        Eur J Pediatr 171:1285-300 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1553-z"">10.1007/s00431-011-1553-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19606528"">19606528</a>
 著者        Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
 タイトル      Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
 雑誌        Genet Med 11:473-87 (2009)
 DOI:<a href=""https://doi.org/10.1097/GIM.0b013e3181a53562"">10.1097/GIM.0b013e3181a53562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21926394"">21926394</a>
 著者        Zariwala MA, Omran H, Ferkol TW
 タイトル      The emerging genetics of primary ciliary dyskinesia.
 雑誌        Proc Am Thorac Soc 8:430-3 (2011)
 DOI:<a href=""https://doi.org/10.1513/pats.201103-023SD"">10.1513/pats.201103-023SD</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17059358"">17059358</a>
 著者        Zariwala MA, Knowles MR, Omran H
 タイトル      Genetic defects in ciliary structure and function.
 雑誌        Annu Rev Physiol 69:423-50 (2007)
 DOI:<a href=""https://doi.org/10.1146/annurev.physiol.69.040705.141301"">10.1146/annurev.physiol.69.040705.141301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22387996"">22387996</a>
 著者        Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR
 タイトル      Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
 雑誌        Nat Genet 44:381-9, S1-2 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1106"">10.1038/ng.1106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23022101"">23022101</a>
 著者        Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H
 タイトル      Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
 雑誌        Am J Hum Genet 91:672-84 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.016"">10.1016/j.ajhg.2012.08.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23255504"">23255504</a>
 著者        Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
 タイトル      Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
 雑誌        Hum Mutat 34:462-72 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22261"">10.1002/humu.22261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496787"">21496787</a>
 著者        Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
 タイトル      Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
 雑誌        Am J Hum Genet 88:599-607 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.018"">10.1016/j.ajhg.2011.03.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22581229"">22581229</a>
 著者        Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA
 タイトル      CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
 雑誌        Nat Genet 44:714-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2277"">10.1038/ng.2277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23040496"">23040496</a>
 著者        Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW
 タイトル      Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 91:685-93 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.022"">10.1016/j.ajhg.2012.08.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23122589"">23122589</a>
 著者        Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Toure A, Escudier E, Amselem S
 タイトル      Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 91:958-64 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.003"">10.1016/j.ajhg.2012.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23261302"">23261302</a>
 著者        Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA
 タイトル      Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 92:99-106 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.11.003"">10.1016/j.ajhg.2012.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23354437"">23354437</a>
 著者        Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlen B, Horak E, Kohler G, Nurnberg P, Nurnberg G, Porter ME, Omran H
 タイトル      The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
 雑誌        Nat Genet 45:262-8 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2533"">10.1038/ng.2533</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23891471"">23891471</a>
 著者        Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM
 タイトル      Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
 雑誌        Am J Hum Genet 93:346-56 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.009"">10.1016/j.ajhg.2013.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23849778"">23849778</a>
 著者        Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H
 タイトル      ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
 雑誌        Am J Hum Genet 93:357-67 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.009"">10.1016/j.ajhg.2013.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23993197"">23993197</a>
 著者        Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S
 タイトル      Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
 雑誌        Am J Hum Genet 93:561-70 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.013"">10.1016/j.ajhg.2013.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23872636"">23872636</a>
 著者        Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H
 タイトル      DYX1C1 is required for axonemal dynein assembly and ciliary motility.
 雑誌        Nat Genet 45:995-1003 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2707"">10.1038/ng.2707</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24094744"">24094744</a>
 著者        Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F
 タイトル      Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
 雑誌        Am J Hum Genet 93:672-86 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.015"">10.1016/j.ajhg.2013.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24055112"">24055112</a>
 著者        Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA
 タイトル      Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
 雑誌        Am J Hum Genet 93:711-20 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.025"">10.1016/j.ajhg.2013.07.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24747639"">24747639</a>
 著者        Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Kohler G, Jaspers M, Boon M, Griese M, Schmitt-Grohe S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H
 タイトル      Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
 雑誌        Nat Genet 46:646-51 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2961"">10.1038/ng.2961</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24067530"">24067530</a>
 著者        Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B
 タイトル      The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.
 雑誌        Hum Mol Genet 23:563-77 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt445"">10.1093/hmg/ddt445</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26073779"">26073779</a>
 著者        Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Desir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M
 タイトル      RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
 雑誌        Am J Hum Genet 97:153-62 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.004"">10.1016/j.ajhg.2015.05.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26387594"">26387594</a>
 著者        Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmuller J, Rommelmann F, Omran H
 タイトル      Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
 雑誌        Am J Hum Genet 97:546-54 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.08.012"">10.1016/j.ajhg.2015.08.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27486783"">27486783</a>
 著者        El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lores P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Toure A, Amselem S
 タイトル      Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
 雑誌        Am J Hum Genet 99:489-500 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.022"">10.1016/j.ajhg.2016.06.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27486780"">27486780</a>
 著者        Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H
 タイトル      TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
 雑誌        Am J Hum Genet 99:460-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.014"">10.1016/j.ajhg.2016.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28041644"">28041644</a>
 著者        Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D
 タイトル      Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
 雑誌        Am J Hum Genet 100:160-168 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.019"">10.1016/j.ajhg.2016.11.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29727692"">29727692</a>
 著者        Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM
 タイトル      C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
 雑誌        Am J Hum Genet 102:956-972 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.03.024"">10.1016/j.ajhg.2018.03.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30665704"">30665704</a>
 著者        Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabert L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE
 タイトル      Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
 雑誌        Am J Hum Genet 104:229-245 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.009"">10.1016/j.ajhg.2018.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31978331"">31978331</a>
 著者        Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Toure A, Mitchell V, Amselem S, Legendre M
 タイトル      TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
 雑誌        Am J Hum Genet 106:153-169 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.010"">10.1016/j.ajhg.2019.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34361034"">34361034</a>
 著者        Brennan SK, Ferkol TW, Davis SD
 タイトル      Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.
 雑誌        Int J Mol Sci 22:8272 (2021)
 DOI:<a href=""https://doi.org/10.3390/ijms22158272"">10.3390/ijms22158272</a>"
H00565,"サルコグリカン異常症
 下位グループ    肢帯型筋ジストロフィー 2C
 肢帯型筋ジストロフィー 2D
 肢帯型筋ジストロフィー 2E
 肢帯型筋ジストロフィー 2F
 上位グループ    肢帯型筋ジストロフィー [DS:H00593]",,,"Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated that pathological mutations of the alpha-sarcoglycan (SG), beta-SG, gamma-SG, and delta-SG genes cause autosomal recessive muscular dystrophies. Clinical presentation of sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness, leading to loss of ambulation during adolescence in most patients.",神経系疾患; 筋骨格疾患,,"(LGMD2C) SGCG [HSA:6445] [KO:K12564]
 (LGMD2D) SGCA [HSA:6442] [KO:K12565]
 (LGMD2E) SGCB [HSA:6443] [KO:K12566]
 (LGMD2F) SGCD [HSA:6444] [KO:K12563]",,,,,,"ICD-11: 8C70.4
 ICD-10: G71.0
 MeSH: D058088
 OMIM: 253700 608099 604286 601287","PMID:21496623
 著者        Kirschner J, Lochmuller H
 タイトル      Sarcoglycanopathies.
 雑誌        Handb Clin Neurol 101:41-6 (2011)
 DOI:10.1016/B978-0-08-045031-5.00003-7
 PMID:19781108
 著者        Sandona D, Betto R
 タイトル      Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
 雑誌        Expert Rev Mol Med 11:e28 (2009)
 DOI:10.1017/S1462399409001203","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00565"">H00565</a>","サルコグリカン異常症
 下位グループ    肢帯型筋ジストロフィー 2C
 肢帯型筋ジストロフィー 2D
 肢帯型筋ジストロフィー 2E
 肢帯型筋ジストロフィー 2F
 上位グループ    肢帯型筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00593"">H00593</a>]","Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00562]."">H00562].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:demonstrated"">demonstrated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pathological"">pathological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:alpha-sarcoglycan"">alpha-sarcoglycan</a> (SG), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:beta-SG,"">beta-SG,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gamma-SG,"">gamma-SG,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:delta-SG"">delta-SG</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:genes"">genes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autosomal"">autosomal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:recessive"">recessive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:muscular"">muscular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dystrophies."">dystrophies.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Clinical"">Clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:presentation"">presentation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sarcoglycanopathies"">sarcoglycanopathies</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:characterized"">characterized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:slowly"">slowly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:progressive"">progressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:proximal"">proximal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:muscle"">muscle</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:weakness,"">weakness,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:leading"">leading</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:loss"">loss</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ambulation"">ambulation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:during"">during</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adolescence"">adolescence</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients."">patients.</a>",,"(LGMD2C) SGCG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6445"">6445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12564"">K12564</a>]
 (LGMD2D) SGCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6442"">6442</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12565"">K12565</a>]
 (LGMD2E) SGCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6443"">6443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12566"">K12566</a>]
 (LGMD2F) SGCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6444"">6444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12563"">K12563</a>]",,,,,,"ICD-11: 8C70.4
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058088"">D058088</a>
 OMIM: <a href=""https://www.omim.org/entry/253700"">253700</a> <a href=""https://www.omim.org/entry/608099"">608099</a> <a href=""https://www.omim.org/entry/604286"">604286</a> <a href=""https://www.omim.org/entry/601287"">601287</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496623"">21496623</a>
 著者        Kirschner J, Lochmuller H
 タイトル      Sarcoglycanopathies.
 雑誌        Handb Clin Neurol 101:41-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-08-045031-5.00003-7"">10.1016/B978-0-08-045031-5.00003-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19781108"">19781108</a>
 著者        Sandona D, Betto R
 タイトル      Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
 雑誌        Expert Rev Mol Med 11:e28 (2009)
 DOI:<a href=""https://doi.org/10.1017/S1462399409001203"">10.1017/S1462399409001203</a>"
H00566,"遠位型前脛骨筋ミオパチー
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness.",神経系疾患; 筋骨格疾患,,DYSF [HSA:8291] [KO:K18261],,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 OMIM: 606768","PMID:11198284
 著者        Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH
 タイトル      Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
 雑誌        Ann Neurol 49:130-4 (2001)
 DOI:10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0
 PMID:9731526
 著者        Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
 タイトル      Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
 雑誌        Nat Genet 20:31-6 (1998)
 DOI:10.1038/1682","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00566"">H00566</a>","遠位型前脛骨筋ミオパチー
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness.",,"DYSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8291"">8291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18261"">K18261</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 OMIM: <a href=""https://www.omim.org/entry/606768"">606768</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11198284"">11198284</a>
 著者        Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH
 タイトル      Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
 雑誌        Ann Neurol 49:130-4 (2001)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(200101)49:"">10.1002/1531-8249(200101)49:</a><a href=""https://doi.org/1<130:"">1<130:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-ANA22>3.0.CO;2-0"">AID-ANA22>3.0.CO;2-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9731526"">9731526</a>
 著者        Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
 タイトル      Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
 雑誌        Nat Genet 20:31-6 (1998)
 DOI:<a href=""https://doi.org/10.1038/1682"">10.1038/1682</a>"
H00567,"肢帯型筋ジストロフィー 1C
 上位グループ    肢帯型筋ジストロフィー [DS:H00593]",,,"Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy, LGMD1C. Caveolins are the principal protein components of caveolae which represent appendages or sub-compartments of plasma membranes.",神経系疾患; 筋骨格疾患,,CAV3 [HSA:859] [KO:K12959],,,,,,"ICD-11: 8C70.40
 ICD-10: G71.0
 MeSH: D049288
 OMIM: 607801","PMID:9537420
 著者        Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F
 タイトル      Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
 雑誌        Nat Genet 18:365-8 (1998)
 DOI:10.1038/ng0498-365
 PMID:11251997
 著者        de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M
 タイトル      Mutations in the caveolin-3 gene: When are they pathogenic?
 雑誌        Am J Med Genet 99:303-7 (2001)
 DOI:10.1002/1096-8628(2001)9999:9999<::AID-AJMG1168>3.0.CO;2-O","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00567"">H00567</a>","肢帯型筋ジストロフィー 1C
 上位グループ    肢帯型筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00593"">H00593</a>]","Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been reported that loss-of-function mutations in caveolin-3 gene are associated with a form of muscular dystrophy, LGMD1C. Caveolins are the principal protein components of caveolae which represent appendages or sub-compartments of plasma membranes.",,"CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]",,,,,,"ICD-11: 8C70.40
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049288"">D049288</a>
 OMIM: <a href=""https://www.omim.org/entry/607801"">607801</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9537420"">9537420</a>
 著者        Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F
 タイトル      Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
 雑誌        Nat Genet 18:365-8 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0498-365"">10.1038/ng0498-365</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11251997"">11251997</a>
 著者        de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M
 タイトル      Mutations in the caveolin-3 gene: When are they pathogenic?
 雑誌        Am J Med Genet 99:303-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(2001)9999:"">10.1002/1096-8628(2001)9999:</a><a href=""https://doi.org/9999<:"">9999<:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1168>3.0.CO;2-O"">AID-AJMG1168>3.0.CO;2-O</a>"
H00568,筋緊張性ジストロフィー,,,"Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length.",神経系疾患; 筋骨格疾患,,"(DM1) DMPK [HSA:1760] [KO:K08788]
 (DM2) ZNF9 [HSA:7555] [KO:K09250]",,,,,,"ICD-11: 8C71.0
 ICD-10: G71.1
 MeSH: D009223
 OMIM: 160900 602668","PMID:16876389
 著者        Cho DH, Tapscott SJ
 タイトル      Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
 雑誌        Biochim Biophys Acta 1772:195-204 (2007)
 DOI:10.1016/j.bbadis.2006.05.013
 PMID:21496635
 著者        Ashizawa T, Sarkar PS
 タイトル      Myotonic dystrophy types 1 and 2.
 雑誌        Handb Clin Neurol 101:193-237 (2011)
 DOI:10.1016/B978-0-08-045031-5.00015-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00568"">H00568</a>",筋緊張性ジストロフィー,"Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length.",,"(DM1) DMPK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1760"">1760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08788"">K08788</a>]
 (DM2) ZNF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7555"">7555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09250"">K09250</a>]",,,,,,"ICD-11: 8C71.0
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009223"">D009223</a>
 OMIM: <a href=""https://www.omim.org/entry/160900"">160900</a> <a href=""https://www.omim.org/entry/602668"">602668</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16876389"">16876389</a>
 著者        Cho DH, Tapscott SJ
 タイトル      Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
 雑誌        Biochim Biophys Acta 1772:195-204 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2006.05.013"">10.1016/j.bbadis.2006.05.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496635"">21496635</a>
 著者        Ashizawa T, Sarkar PS
 タイトル      Myotonic dystrophy types 1 and 2.
 雑誌        Handb Clin Neurol 101:193-237 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-08-045031-5.00015-3"">10.1016/B978-0-08-045031-5.00015-3</a>"
H00569,アースコグ症候群,,,"Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS.",先天奇形,,FGD1 [HSA:2245] [KO:K05720],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: C535331
 OMIM: 305400","PMID:14560308
 著者        Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V
 タイトル      Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
 雑誌        Eur J Hum Genet 12:16-23 (2004)
 DOI:10.1038/sj.ejhg.5201081
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00569"">H00569</a>",アースコグ症候群,"Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS.",,"FGD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2245"">2245</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05720"">K05720</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535331"">C535331</a>
 OMIM: <a href=""https://www.omim.org/entry/305400"">305400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14560308"">14560308</a>
 著者        Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V
 タイトル      Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
 雑誌        Eur J Hum Genet 12:16-23 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201081"">10.1038/sj.ejhg.5201081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>"
H00570,歌舞伎症候群,,,"Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.",先天奇形,,"MLL2 [HSA:8085] [KO:K09187]
 KDM6A [HSA:7403] [KO:K11447]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 MeSH: C537705
 OMIM: 147920 300867","PMID:15691356
 著者        Adam MP, Hudgins L
 タイトル      Kabuki syndrome: a review.
 雑誌        Clin Genet 67:209-19 (2005)
 DOI:10.1111/j.1399-0004.2004.00348.x
 PMID:12002156
 著者        Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
 タイトル      Kabuki syndrome: a review study of three hundred patients.
 雑誌        Clin Dysmorphol 11:95-102 (2002)
 DOI:10.1097/00019605-200204000-00004
 PMID:21882399
 著者        Adam MP, Hudgins L, Hannibal M
 タイトル      Kabuki Syndrome
 雑誌        GeneReviews (1993)
 PMID:25972376
 著者        Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH
 タイトル      Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
 雑誌        Hum Mol Genet 24:4443-53 (2015)
 DOI:10.1093/hmg/ddv180","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00570"">H00570</a>",歌舞伎症候群,"Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.",,"MLL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8085"">8085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09187"">K09187</a>]
 KDM6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7403"">7403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11447"">K11447</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537705"">C537705</a>
 OMIM: <a href=""https://www.omim.org/entry/147920"">147920</a> <a href=""https://www.omim.org/entry/300867"">300867</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15691356"">15691356</a>
 著者        Adam MP, Hudgins L
 タイトル      Kabuki syndrome: a review.
 雑誌        Clin Genet 67:209-19 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2004.00348.x"">10.1111/j.1399-0004.2004.00348.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12002156"">12002156</a>
 著者        Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
 タイトル      Kabuki syndrome: a review study of three hundred patients.
 雑誌        Clin Dysmorphol 11:95-102 (2002)
 DOI:<a href=""https://doi.org/10.1097/00019605-200204000-00004"">10.1097/00019605-200204000-00004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21882399"">21882399</a>
 著者        Adam MP, Hudgins L, Hannibal M
 タイトル      Kabuki Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25972376"">25972376</a>
 著者        Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH
 タイトル      Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
 雑誌        Hum Mol Genet 24:4443-53 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv180"">10.1093/hmg/ddv180</a>"
H00571,ヨハンソン‐ブリザード症候群,,,"Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization.",先天奇形,,UBR1 [HSA:197131] [KO:K10625],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C535880
 OMIM: 243800","PMID:20556422
 著者        Rezaei N, Sabbaghian M, Liu Z, Zenker M
 タイトル      Eponym: Johanson-Blizzard syndrome.
 雑誌        Eur J Pediatr 170:179-83 (2011)
 DOI:10.1007/s00431-010-1240-5
 PMID:16311597
 著者        Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A
 タイトル      Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
 雑誌        Nat Genet 37:1345-50 (2005)
 DOI:10.1038/ng1681
 PMID:21931868
 著者        Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M
 タイトル      Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
 雑誌        PLoS One 6:e24925 (2011)
 DOI:10.1371/journal.pone.0024925","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00571"">H00571</a>",ヨハンソン‐ブリザード症候群,"Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization.",,"UBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197131"">197131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10625"">K10625</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535880"">C535880</a>
 OMIM: <a href=""https://www.omim.org/entry/243800"">243800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20556422"">20556422</a>
 著者        Rezaei N, Sabbaghian M, Liu Z, Zenker M
 タイトル      Eponym: Johanson-Blizzard syndrome.
 雑誌        Eur J Pediatr 170:179-83 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00431-010-1240-5"">10.1007/s00431-010-1240-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16311597"">16311597</a>
 著者        Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A
 タイトル      Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
 雑誌        Nat Genet 37:1345-50 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1681"">10.1038/ng1681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21931868"">21931868</a>
 著者        Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M
 タイトル      Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
 雑誌        PLoS One 6:e24925 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0024925"">10.1371/journal.pone.0024925</a>"
H00572,"Roberts-SC アザラシ肢症候群
 下位グループ    ロバーツ症候群
 SC アザラシ肢症",,,"Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders.",先天奇形,,ESCO2 [HSA:157570] [KO:K11268],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q73.8
 MeSH: C535687
 OMIM: 268300","PMID:20301332
 著者        Gordillo M, Vega H, Jabs EW
 タイトル      Roberts Syndrome
 雑誌        GeneReviews (1993)
 PMID:20101700
 著者        Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF
 タイトル      The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
 雑誌        Am J Med Genet A 152A:472-8 (2010)
 DOI:10.1002/ajmg.a.33261
 PMID:16380922
 著者        Schule B, Oviedo A, Johnston K, Pai S, Francke U
 タイトル      Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
 雑誌        Am J Hum Genet 77:1117-28 (2005)
 DOI:10.1086/498695","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00572"">H00572</a>","Roberts-SC アザラシ肢症候群
 下位グループ    ロバーツ症候群
 SC アザラシ肢症","Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders.",,"ESCO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157570"">157570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11268"">K11268</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q73.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535687"">C535687</a>
 OMIM: <a href=""https://www.omim.org/entry/268300"">268300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301332"">20301332</a>
 著者        Gordillo M, Vega H, Jabs EW
 タイトル      Roberts Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20101700"">20101700</a>
 著者        Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF
 タイトル      The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
 雑誌        Am J Med Genet A 152A:472-8 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33261"">10.1002/ajmg.a.33261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16380922"">16380922</a>
 著者        Schule B, Oviedo A, Johnston K, Pai S, Francke U
 タイトル      Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
 雑誌        Am J Hum Genet 77:1117-28 (2005)
 DOI:<a href=""https://doi.org/10.1086/498695"">10.1086/498695</a>"
H00573,Townes-Brocks 症候群,,,"Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations.",先天奇形,,"(TBS1) SALL1 [HSA:6299] [KO:K19871]
 (TBS2) DACT1 [HSA:51339] [KO:K22154]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536974
 OMIM: 107480 617466","PMID:10051003
 著者        Powell CM, Michaelis RC
 タイトル      Townes-Brocks syndrome.
 雑誌        J Med Genet 36:89-93 (1999)
 DOI:10.1136/jmg.36.2.89
 PMID:11478532 (SALL1)
 著者        Keegan CE, Mulliken JB, Wu BL, Korf BR
 タイトル      Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a ""hot spot"" for mutation in the SALL1 gene.
 雑誌        Genet Med 3:310-3 (2001)
 DOI:10.1097/00125817-200107000-00007
 PMID:28054444 (DACT1)
 著者        Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE
 タイトル      Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
 雑誌        Hum Mutat 38:373-377 (2017)
 DOI:10.1002/humu.23171","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00573"">H00573</a>",Townes-Brocks 症候群,"Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations.",,"(TBS1) SALL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6299"">6299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19871"">K19871</a>]
 (TBS2) DACT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51339"">51339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22154"">K22154</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536974"">C536974</a>
 OMIM: <a href=""https://www.omim.org/entry/107480"">107480</a> <a href=""https://www.omim.org/entry/617466"">617466</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10051003"">10051003</a>
 著者        Powell CM, Michaelis RC
 タイトル      Townes-Brocks syndrome.
 雑誌        J Med Genet 36:89-93 (1999)
 DOI:<a href=""https://doi.org/10.1136/jmg.36.2.89"">10.1136/jmg.36.2.89</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11478532"">11478532</a> (SALL1)
 著者        Keegan CE, Mulliken JB, Wu BL, Korf BR
 タイトル      Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a ""hot spot"" for mutation in the SALL1 gene.
 雑誌        Genet Med 3:310-3 (2001)
 DOI:<a href=""https://doi.org/10.1097/00125817-200107000-00007"">10.1097/00125817-200107000-00007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28054444"">28054444</a> (DACT1)
 著者        Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE
 タイトル      Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
 雑誌        Hum Mutat 38:373-377 (2017)
 DOI:<a href=""https://doi.org/10.1002/humu.23171"">10.1002/humu.23171</a>"
H00574,コフィン・ローリー症候群,,,"Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells.",先天奇形,,RPS6KA3 [HSA:6197] [KO:K04373],,,,,Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19.,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: D038921
 OMIM: 303600","PMID:19888300
 著者        Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A
 タイトル      Coffin-Lowry syndrome.
 雑誌        Eur J Hum Genet 18:627-33 (2010)
 DOI:10.1038/ejhg.2009.189
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00574"">H00574</a>",コフィン・ローリー症候群,"Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells.",,"RPS6KA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6197"">6197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04373"">K04373</a>]",,,,,Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19.,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D038921"">D038921</a>
 OMIM: <a href=""https://www.omim.org/entry/303600"">303600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19888300"">19888300</a>
 著者        Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A
 タイトル      Coffin-Lowry syndrome.
 雑誌        Eur J Hum Genet 18:627-33 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.189"">10.1038/ejhg.2009.189</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>"
H00575,腎尿細管形成不全,,,"Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis.",先天奇形,,"REN [HSA:5972] [KO:K01380]
 AGT [HSA:183] [KO:K09821]
 ACE [HSA:1636] [KO:K01283]
 AGTR1 [HSA:185] [KO:K04166]",,,,,,"ICD-11: LB30.3
 ICD-10: Q63.8
 MeSH: C537048
 OMIM: 267430","PMID:20969579
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:10.1111/j.1749-6632.2010.05817.x
 PMID:19924102
 著者        Gubler MC, Antignac C
 タイトル      Renin-angiotensin system in kidney development: renal tubular dysgenesis.
 雑誌        Kidney Int 77:400-6 (2010)
 DOI:10.1038/ki.2009.423
 PMID:16116425
 著者        Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC
 タイトル      Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
 雑誌        Nat Genet 37:964-8 (2005)
 DOI:10.1038/ng1623
 PMID:8023970
 著者        Tufro-McReddie A, Johns DW, Geary KM, Dagli H, Everett AD, Chevalier RL, Carey RM, Gomez RA
 タイトル      Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development.
 雑誌        Am J Physiol 266:F911-8 (1994)
 DOI:10.1152/ajprenal.1994.266.6.F911","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00575"">H00575</a>",腎尿細管形成不全,"Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis.",,"REN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5972"">5972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01380"">K01380</a>]
 AGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:183"">183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09821"">K09821</a>]
 ACE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1636"">1636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01283"">K01283</a>]
 AGTR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:185"">185</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04166"">K04166</a>]",,,,,,"ICD-11: LB30.3
 ICD-10: Q63.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537048"">C537048</a>
 OMIM: <a href=""https://www.omim.org/entry/267430"">267430</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20969579"">20969579</a>
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05817.x"">10.1111/j.1749-6632.2010.05817.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19924102"">19924102</a>
 著者        Gubler MC, Antignac C
 タイトル      Renin-angiotensin system in kidney development: renal tubular dysgenesis.
 雑誌        Kidney Int 77:400-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/ki.2009.423"">10.1038/ki.2009.423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16116425"">16116425</a>
 著者        Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC
 タイトル      Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
 雑誌        Nat Genet 37:964-8 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1623"">10.1038/ng1623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8023970"">8023970</a>
 著者        Tufro-McReddie A, Johns DW, Geary KM, Dagli H, Everett AD, Chevalier RL, Carey RM, Gomez RA
 タイトル      Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development.
 雑誌        Am J Physiol 266:F911-8 (1994)
 DOI:<a href=""https://doi.org/10.1152/ajprenal.1994.266.6.F911"">10.1152/ajprenal.1994.266.6.F911</a>"
H00576,ピアソン症候群,,,"Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane.",泌尿器系疾患,,LAMB2 [HSA:3913] [KO:K06243],,,,,,"ICD-11: GB41
 ICD-10: N04.9
 MeSH: C537185
 OMIM: 609049","PMID:20969579
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:10.1111/j.1749-6632.2010.05817.x
 PMID:16864643
 著者        VanDeVoorde R, Witte D, Kogan J, Goebel J
 タイトル      Pierson syndrome: a novel cause of congenital nephrotic syndrome.
 雑誌        Pediatrics 118:e501-5 (2006)
 DOI:10.1542/peds.2005-3154
 PMID:18094725
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:10.1038/ncpneph0671
 PMID:21071975
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:10.1159/000320876","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00576"">H00576</a>",ピアソン症候群,"Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane.",,"LAMB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3913"">3913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06243"">K06243</a>]",,,,,,"ICD-11: GB41
 ICD-10: N04.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537185"">C537185</a>
 OMIM: <a href=""https://www.omim.org/entry/609049"">609049</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20969579"">20969579</a>
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05817.x"">10.1111/j.1749-6632.2010.05817.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16864643"">16864643</a>
 著者        VanDeVoorde R, Witte D, Kogan J, Goebel J
 タイトル      Pierson syndrome: a novel cause of congenital nephrotic syndrome.
 雑誌        Pediatrics 118:e501-5 (2006)
 DOI:<a href=""https://doi.org/10.1542/peds.2005-3154"">10.1542/peds.2005-3154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18094725"">18094725</a>
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpneph0671"">10.1038/ncpneph0671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071975"">21071975</a>
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320876"">10.1159/000320876</a>"
H00577,"症候性全般てんかん
 下位グループ    ドラベ症候群 [DS:H01818]
 ミオクロニー脱力発作を伴うてんかん [DS:H01823]
 早期ミオクロニー脳症 [DS:H01819]
 早期乳児てんかん性脳症 [DS:H00606]
 学習障害と行動異常を伴うX連鎖性てんかん (EPILX)
 致死性新生児固縮および多焦点性てんかん症候群 (RMFSL)",,,"Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures, Early myoclonic encephalopathy, Early infantile epileptic encephalopathy, and other symptomatic generalized epilepsies.",神経系疾患,,"(EPILX) SYN1 [HSA:6853] [KO:K19941]
 (RMFSL) BRAT1 [HSA:221927] [KO:K23112]",,,,,,"ICD-11: 8A61
 ICD-10: G40.4
 MeSH: D004829
 OMIM: 300491 614498","PMID:2502382
 タイトル      Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against  Epilepsy.
 雑誌        Epilepsia 30:389-99 (1989)
 DOI:10.1111/j.1528-1157.1989.tb05316.x
 PMID:20196795
 著者        Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
 タイトル      Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
 雑誌        Epilepsia 51:676-85 (2010)
 DOI:10.1111/j.1528-1167.2010.02522.x
 PMID:14985377 (EPILX)
 著者        Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA
 タイトル      Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
 雑誌        J Med Genet 41:183-6 (2004)
 DOI:10.1136/jmg.2003.013680
 PMID:25500575 (RMFSL)
 著者        Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L
 タイトル      Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
 雑誌        Eur J Paediatr Neurol 19:240-2 (2015)
 DOI:10.1016/j.ejpn.2014.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>","症候性全般てんかん
 下位グループ    ドラベ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01818"">H01818</a>]
 ミオクロニー脱力発作を伴うてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01823"">H01823</a>]
 早期ミオクロニー脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01819"">H01819</a>]
 早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 学習障害と行動異常を伴うX連鎖性てんかん (EPILX)
 致死性新生児固縮および多焦点性てんかん症候群 (RMFSL)","Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures, Early myoclonic encephalopathy, Early infantile epileptic encephalopathy, and other symptomatic generalized epilepsies.",,"(EPILX) SYN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6853"">6853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19941"">K19941</a>]
 (RMFSL) BRAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221927"">221927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23112"">K23112</a>]",,,,,,"ICD-11: 8A61
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004829"">D004829</a>
 OMIM: <a href=""https://www.omim.org/entry/300491"">300491</a> <a href=""https://www.omim.org/entry/614498"">614498</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2502382"">2502382</a>
 タイトル      Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against  Epilepsy.
 雑誌        Epilepsia 30:389-99 (1989)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1157.1989.tb05316.x"">10.1111/j.1528-1157.1989.tb05316.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20196795"">20196795</a>
 著者        Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
 タイトル      Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
 雑誌        Epilepsia 51:676-85 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2010.02522.x"">10.1111/j.1528-1167.2010.02522.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14985377"">14985377</a> (EPILX)
 著者        Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA
 タイトル      Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
 雑誌        J Med Genet 41:183-6 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.013680"">10.1136/jmg.2003.013680</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25500575"">25500575</a> (RMFSL)
 著者        Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L
 タイトル      Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
 雑誌        Eur J Paediatr Neurol 19:240-2 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2014.11.004"">10.1016/j.ejpn.2014.11.004</a>"
H00578,"エプスタイン症候群
 上位グループ    MYH9 異常症 [DS:H00233]
 巨大血小板性血小板減少症 [DS:H01740]",,,"Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy.",循環器疾患,,MYH9 [HSA:4627] [KO:K10352],,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 MeSH: C535507
 OMIM: 153650","PMID:18094725
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:10.1038/ncpneph0671
 PMID:21071975
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:10.1159/000320876
 PMID:21210153
 著者        Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
 タイトル      Renal manifestations of patients with MYH9-related disorders.
 雑誌        Pediatr Nephrol 26:549-55 (2011)
 DOI:10.1007/s00467-010-1735-3
 PMID:18503011 (drug)
 著者        Pecci A, Granata A, Fiore CE, Balduini CL
 タイトル      Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
 雑誌        Nephrol Dial Transplant 23:2690-2 (2008)
 DOI:10.1093/ndt/gfn277","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00578"">H00578</a>","エプスタイン症候群
 上位グループ    MYH9 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>]
 巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy.",,"MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535507"">C535507</a>
 OMIM: <a href=""https://www.omim.org/entry/153650"">153650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18094725"">18094725</a>
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpneph0671"">10.1038/ncpneph0671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071975"">21071975</a>
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320876"">10.1159/000320876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21210153"">21210153</a>
 著者        Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
 タイトル      Renal manifestations of patients with MYH9-related disorders.
 雑誌        Pediatr Nephrol 26:549-55 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00467-010-1735-3"">10.1007/s00467-010-1735-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18503011"">18503011</a> (drug)
 著者        Pecci A, Granata A, Fiore CE, Balduini CL
 タイトル      Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
 雑誌        Nephrol Dial Transplant 23:2690-2 (2008)
 DOI:<a href=""https://doi.org/10.1093/ndt/gfn277"">10.1093/ndt/gfn277</a>"
H00579,HANAC 症候群,,,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed.",先天奇形,,COL4A1 [HSA:1282] [KO:K06237],,,,,,"ICD-11: LD23
 ICD-10: I99
 MeSH: C567088
 OMIM: 611773","PMID:18094725
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:10.1038/ncpneph0671
 PMID:21071975
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:10.1159/000320876
 PMID:18160688
 著者        Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P
 タイトル      COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
 雑誌        N Engl J Med 357:2687-95 (2007)
 DOI:10.1056/NEJMoa071906
 PMID:20818663
 著者        Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P
 タイトル      Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
 雑誌        Am J Med Genet A 152A:2550-5 (2010)
 DOI:10.1002/ajmg.a.33659","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00579"">H00579</a>",HANAC 症候群,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed.",,"COL4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1282"">1282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]",,,,,,"ICD-11: LD23
 ICD-10: I99
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567088"">C567088</a>
 OMIM: <a href=""https://www.omim.org/entry/611773"">611773</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18094725"">18094725</a>
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpneph0671"">10.1038/ncpneph0671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071975"">21071975</a>
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320876"">10.1159/000320876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18160688"">18160688</a>
 著者        Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P
 タイトル      COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
 雑誌        N Engl J Med 357:2687-95 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa071906"">10.1056/NEJMoa071906</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20818663"">20818663</a>
 著者        Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P
 タイトル      Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
 雑誌        Am J Med Genet A 152A:2550-5 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33659"">10.1002/ajmg.a.33659</a>"
H00580,シムケ免疫性骨形成不全,,,"Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis.",先天奇形,,SMARCAL1 [HSA:50485] [KO:K14440],,,,,,"ICD-11: 4A01.32
 ICD-10: Q77.7
 MeSH: C536629
 OMIM: 242900","PMID:20301550
 著者        Baradaran-Heravi A, Morimoto M, Lucke T, Boerkoel CF
 タイトル      Schimke Immunoosseous Dysplasia
 雑誌        GeneReviews (1993)
 PMID:20013129
 著者        Hunter KB, Lucke T, Spranger J, Smithson SF, Alpay H, Andre JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Frund S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF
 タイトル      Schimke immunoosseous dysplasia: defining skeletal features.
 雑誌        Eur J Pediatr 169:801-11 (2010)
 DOI:10.1007/s00431-009-1115-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00580"">H00580</a>",シムケ免疫性骨形成不全,"Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis.",,"SMARCAL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50485"">50485</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14440"">K14440</a>]",,,,,,"ICD-11: 4A01.32
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536629"">C536629</a>
 OMIM: <a href=""https://www.omim.org/entry/242900"">242900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301550"">20301550</a>
 著者        Baradaran-Heravi A, Morimoto M, Lucke T, Boerkoel CF
 タイトル      Schimke Immunoosseous Dysplasia
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20013129"">20013129</a>
 著者        Hunter KB, Lucke T, Spranger J, Smithson SF, Alpay H, Andre JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Frund S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF
 タイトル      Schimke immunoosseous dysplasia: defining skeletal features.
 雑誌        Eur J Pediatr 169:801-11 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00431-009-1115-9"">10.1007/s00431-009-1115-9</a>"
H00581,アルポート症候群,,,"Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.",先天奇形,,"(ATS1) COL4A5 [HSA:1287] [KO:K06237]
 (ATS2) COL4A4 [HSA:1286] [KO:K06237]
 (ATS2_3) COL4A3 [HSA:1285] [KO:K06237]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: D009394
 OMIM: 301050 203780 104200","PMID:21071975
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:10.1159/000320876
 PMID:19470679
 著者        Heidet L, Gubler MC
 タイトル      The renal lesions of Alport syndrome.
 雑誌        J Am Soc Nephrol 20:1210-5 (2009)
 DOI:10.1681/ASN.2008090984
 PMID:20378821 (ATS1)
 著者        Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW
 タイトル      Genotype-phenotype correlation in X-linked Alport syndrome.
 雑誌        J Am Soc Nephrol 21:876-83 (2010)
 DOI:10.1681/ASN.2009070784
 PMID:24052634 (ATS2)
 著者        Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA
 タイトル      COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
 雑誌        J Am Soc Nephrol 24:1945-54 (2013)
 DOI:10.1681/ASN.2012100985
 PMID:11044206 (ATS3)
 著者        van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ
 タイトル      Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
 雑誌        Kidney Int 58:1870-5 (2000)
 DOI:10.1111/j.1523-1755.2000.00358.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00581"">H00581</a>",アルポート症候群,"Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.",,"(ATS1) COL4A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1287"">1287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 (ATS2) COL4A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1286"">1286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 (ATS2_3) COL4A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1285"">1285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009394"">D009394</a>
 OMIM: <a href=""https://www.omim.org/entry/301050"">301050</a> <a href=""https://www.omim.org/entry/203780"">203780</a> <a href=""https://www.omim.org/entry/104200"">104200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071975"">21071975</a>
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320876"">10.1159/000320876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19470679"">19470679</a>
 著者        Heidet L, Gubler MC
 タイトル      The renal lesions of Alport syndrome.
 雑誌        J Am Soc Nephrol 20:1210-5 (2009)
 DOI:<a href=""https://doi.org/10.1681/ASN.2008090984"">10.1681/ASN.2008090984</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20378821"">20378821</a> (ATS1)
 著者        Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW
 タイトル      Genotype-phenotype correlation in X-linked Alport syndrome.
 雑誌        J Am Soc Nephrol 21:876-83 (2010)
 DOI:<a href=""https://doi.org/10.1681/ASN.2009070784"">10.1681/ASN.2009070784</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24052634"">24052634</a> (ATS2)
 著者        Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA
 タイトル      COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
 雑誌        J Am Soc Nephrol 24:1945-54 (2013)
 DOI:<a href=""https://doi.org/10.1681/ASN.2012100985"">10.1681/ASN.2012100985</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11044206"">11044206</a> (ATS3)
 著者        van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ
 タイトル      Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
 雑誌        Kidney Int 58:1870-5 (2000)
 DOI:<a href=""https://doi.org/10.1111/j.1523-1755.2000.00358.x"">10.1111/j.1523-1755.2000.00358.x</a>"
H00582,良性家族性血尿,,,"Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.",泌尿器系疾患,,"COL4A3 [HSA:1285] [KO:K06237]
 COL4A4 [HSA:1286] [KO:K06237]",,,,,,"ICD-11: GB4Y
 MeSH: C562476
 OMIM: 141200","PMID:18094725
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:10.1038/ncpneph0671
 PMID:21071975
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:10.1159/000320876
 PMID:12969134
 著者        Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY
 タイトル      Thin basement membrane nephropathy.
 雑誌        Kidney Int 64:1169-78 (2003)
 DOI:10.1046/j.1523-1755.2003.00234.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00582"">H00582</a>",良性家族性血尿,"Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.",,"COL4A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1285"">1285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 COL4A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1286"">1286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]",,,,,,"ICD-11: GB4Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562476"">C562476</a>
 OMIM: <a href=""https://www.omim.org/entry/141200"">141200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18094725"">18094725</a>
 著者        Gubler MC
 タイトル      Inherited diseases of the glomerular basement membrane.
 雑誌        Nat Clin Pract Nephrol 4:24-37 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpneph0671"">10.1038/ncpneph0671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071975"">21071975</a>
 著者        Kashtan CE, Segal Y
 タイトル      Genetic disorders of glomerular basement membranes.
 雑誌        Nephron Clin Pract 118:c9-c18 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320876"">10.1159/000320876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12969134"">12969134</a>
 著者        Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY
 タイトル      Thin basement membrane nephropathy.
 雑誌        Kidney Int 64:1169-78 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.2003.00234.x"">10.1046/j.1523-1755.2003.00234.x</a>"
H00583,Opitz-GBBB 症候群,,,"Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by a mutation in the gene MID1 that encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Autosomal dominant form results from a deletion at chromosome 22q11.2.",先天奇形,,"(GBBB1) MID1 [HSA:4281] [KO:K08285]
 (GBBB2) SPECC1L [HSA:23384] [KO:K23028]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C567932 C538387
 OMIM: 300000 145410","PMID:12655643
 著者        Schweiger S, Schneider R
 タイトル      The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
 雑誌        Bioessays 25:356-66 (2003)
 DOI:10.1002/bies.10256
 PMID:12833403
 著者        De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G
 タイトル      X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
 雑誌        Am J Med Genet A 120A:222-8 (2003)
 DOI:10.1002/ajmg.a.10265
 PMID:18197188
 著者        Chiurazzi P, Schwartz CE, Gecz J, Neri G
 タイトル      XLMR genes: update 2007.
 雑誌        Eur J Hum Genet 16:422-34 (2008)
 DOI:10.1038/sj.ejhg.5201994
 PMID:25412741
 著者        Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH
 タイトル      Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
 雑誌        J Med Genet 52:104-10 (2015)
 DOI:10.1136/jmedgenet-2014-102677","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00583"">H00583</a>",Opitz-GBBB 症候群,"Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by a mutation in the gene MID1 that encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Autosomal dominant form results from a deletion at chromosome 22q11.2.",,"(GBBB1) MID1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4281"">4281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08285"">K08285</a>]
 (GBBB2) SPECC1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23384"">23384</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23028"">K23028</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567932"">C567932</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538387"">C538387</a>
 OMIM: <a href=""https://www.omim.org/entry/300000"">300000</a> <a href=""https://www.omim.org/entry/145410"">145410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12655643"">12655643</a>
 著者        Schweiger S, Schneider R
 タイトル      The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
 雑誌        Bioessays 25:356-66 (2003)
 DOI:<a href=""https://doi.org/10.1002/bies.10256"">10.1002/bies.10256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12833403"">12833403</a>
 著者        De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G
 タイトル      X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
 雑誌        Am J Med Genet A 120A:222-8 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10265"">10.1002/ajmg.a.10265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18197188"">18197188</a>
 著者        Chiurazzi P, Schwartz CE, Gecz J, Neri G
 タイトル      XLMR genes: update 2007.
 雑誌        Eur J Hum Genet 16:422-34 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201994"">10.1038/sj.ejhg.5201994</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25412741"">25412741</a>
 著者        Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH
 タイトル      Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
 雑誌        J Med Genet 52:104-10 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102677"">10.1136/jmedgenet-2014-102677</a>"
H00584,"単純型表皮水疱症
 下位グループ    ヘミデスモソーム型表皮水疱症 [DS:H00585]
 上位グループ    表皮水疱症 [DS:H01737]",,,"Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation within the basal keratinocytes due to the mutations in the basal keratin genes, KRT5 and KRT14.",先天奇形,,"(EBS1) KRT14 [HSA:3861] [KO:K07604]
 (EBS2) KRT5 [HSA:3852] [KO:K07605]
 (EBS3) DST [HSA:667] [KO:K10382]
 (EBS4) EXPH5 [HSA:23086] [KO:K22236]
 (EBS5) PLEC1 [HSA:5339] [KO:K10388]
 (EBS6) KLHL24 [HSA:54800] [KO:K10461]
 (EBS7) CD151 [HSA:977] [KO:K06537]",,,,,,"ICD-11: EC30
 ICD-10: Q81.0
 MeSH: D016110
 OMIM: 131760 131900 131800 601001 619555 619588 619594 619599 609352 131960 615425 615028 131950 226670 612138 616487 617294","PMID:20616732
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:10.1097/MOP.0b013e32833bb74f
 PMID:20536471
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:10.1111/j.1749-6632.2010.05463.x
 PMID:27283507 (KRT14 KRT5)
 著者        Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J
 タイトル      KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
 雑誌        J Invest Dermatol 136:1897-1901 (2016)
 DOI:10.1016/j.jid.2016.05.106
 PMID:26743602 (KRT5)
 著者        Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C
 タイトル      The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
 雑誌        J Invest Dermatol 136:719-721 (2016)
 DOI:10.1016/j.jid.2015.11.024
 PMID:20164846 (DST)
 著者        Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA
 タイトル      A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of  autosomal recessive epidermolysis bullosa simplex.
 雑誌        J Invest Dermatol 130:1551-7 (2010)
 DOI:10.1038/jid.2010.19
 PMID:23176819 (EXPH5)
 著者        McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M
 タイトル      Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
 雑誌        Am J Hum Genet 91:1115-21 (2012)
 DOI:10.1016/j.ajhg.2012.10.012
 PMID:25712130 (PLEC1)
 著者        Gostynska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castanon MJ, Wiche G, Jonkman MF
 タイトル      Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
 雑誌        Hum Mol Genet 24:3155-62 (2015)
 DOI:10.1093/hmg/ddv066
 PMID:27798626 (KLHL24)
 著者        Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X
 タイトル      Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
 雑誌        Nat Genet 48:1508-1516 (2016)
 DOI:10.1038/ng.3701
 PMID:15265795 (CD151)
 著者        Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ
 タイトル      CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
 雑誌        Blood 104:2217-23 (2004)
 DOI:10.1182/blood-2004-04-1512","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00584"">H00584</a>","単純型表皮水疱症
 下位グループ    ヘミデスモソーム型表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00585"">H00585</a>]
 上位グループ    表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>]","Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation within the basal keratinocytes due to the mutations in the basal keratin genes, KRT5 and KRT14.",,"(EBS1) KRT14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3861"">3861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 (EBS2) KRT5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3852"">3852</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (EBS3) DST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:667"">667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10382"">K10382</a>]
 (EBS4) EXPH5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23086"">23086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22236"">K22236</a>]
 (EBS5) PLEC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5339"">5339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10388"">K10388</a>]
 (EBS6) KLHL24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54800"">54800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10461"">K10461</a>]
 (EBS7) CD151 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:977"">977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06537"">K06537</a>]",,,,,,"ICD-11: EC30
 ICD-10: Q81.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016110"">D016110</a>
 OMIM: <a href=""https://www.omim.org/entry/131760"">131760</a> <a href=""https://www.omim.org/entry/131900"">131900</a> <a href=""https://www.omim.org/entry/131800"">131800</a> <a href=""https://www.omim.org/entry/601001"">601001</a> <a href=""https://www.omim.org/entry/619555"">619555</a> <a href=""https://www.omim.org/entry/619588"">619588</a> <a href=""https://www.omim.org/entry/619594"">619594</a> <a href=""https://www.omim.org/entry/619599"">619599</a> <a href=""https://www.omim.org/entry/609352"">609352</a> <a href=""https://www.omim.org/entry/131960"">131960</a> <a href=""https://www.omim.org/entry/615425"">615425</a> <a href=""https://www.omim.org/entry/615028"">615028</a> <a href=""https://www.omim.org/entry/131950"">131950</a> <a href=""https://www.omim.org/entry/226670"">226670</a> <a href=""https://www.omim.org/entry/612138"">612138</a> <a href=""https://www.omim.org/entry/616487"">616487</a> <a href=""https://www.omim.org/entry/617294"">617294</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20616732"">20616732</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e32833bb74f"">10.1097/MOP.0b013e32833bb74f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20536471"">20536471</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05463.x"">10.1111/j.1749-6632.2010.05463.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27283507"">27283507</a> (KRT14 <a href=""https://pubmed.ncbi.nlm.nih.gov/KRT5)"">KRT5)</a>
 著者        Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J
 タイトル      KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
 雑誌        J Invest Dermatol 136:1897-1901 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2016.05.106"">10.1016/j.jid.2016.05.106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26743602"">26743602</a> (KRT5)
 著者        Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C
 タイトル      The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
 雑誌        J Invest Dermatol 136:719-721 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2015.11.024"">10.1016/j.jid.2015.11.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20164846"">20164846</a> (DST)
 著者        Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA
 タイトル      A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of  autosomal recessive epidermolysis bullosa simplex.
 雑誌        J Invest Dermatol 130:1551-7 (2010)
 DOI:<a href=""https://doi.org/10.1038/jid.2010.19"">10.1038/jid.2010.19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23176819"">23176819</a> (EXPH5)
 著者        McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M
 タイトル      Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
 雑誌        Am J Hum Genet 91:1115-21 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.012"">10.1016/j.ajhg.2012.10.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712130"">25712130</a> (PLEC1)
 著者        Gostynska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castanon MJ, Wiche G, Jonkman MF
 タイトル      Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
 雑誌        Hum Mol Genet 24:3155-62 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv066"">10.1093/hmg/ddv066</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27798626"">27798626</a> (KLHL24)
 著者        Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X
 タイトル      Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
 雑誌        Nat Genet 48:1508-1516 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3701"">10.1038/ng.3701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15265795"">15265795</a> (CD151)
 著者        Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ
 タイトル      CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
 雑誌        Blood 104:2217-23 (2004)
 DOI:<a href=""https://doi.org/10.1182/blood-2004-04-1512"">10.1182/blood-2004-04-1512</a>"
H00585,"ヘミデスモソーム型表皮水疱症
 下位グループ    単純型表皮水疱症 Ogna 型
 単純型表皮水疱症 筋ジストロフィー合併型
 単純型表皮水疱症 幽門閉鎖合併型
 上位グループ    単純型表皮水疱症 [DS:H00584]
 表皮水疱症 [DS:H01737]",,,"Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex.",先天奇形,,PLEC [HSA:5339] [KO:K10388],,,,,,"ICD-11: EC30
 ICD-10: G71.0 Q81.0
 MeSH: C567408
 OMIM: 131950 226670 612138","PMID:15708287
 著者        Uitto J, Richard G
 タイトル      Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
 雑誌        Clin Dermatol 23:33-40 (2005)
 DOI:10.1016/j.clindermatol.2004.09.015
 PMID:20507384
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:10.1111/j.1346-8138.2009.00800.x
 PMID:11851880 (EBS-Ogna)
 著者        Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr
 タイトル      A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
 雑誌        J Invest Dermatol 118:87-93 (2002)
 DOI:10.1046/j.0022-202x.2001.01591.x
 PMID:20016501 (EBS-MD)
 著者        Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF
 タイトル      PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
 雑誌        J Invest Dermatol 130:1178-81 (2010)
 DOI:10.1038/jid.2009.390
 PMID:15681471 (EBS-PA)
 著者        Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H
 タイトル      Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
 雑誌        J Mol Diagn 7:28-35 (2005)
 DOI:10.1016/S1525-1578(10)60005-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00585"">H00585</a>","ヘミデスモソーム型表皮水疱症
 下位グループ    単純型表皮水疱症 Ogna 型
 単純型表皮水疱症 筋ジストロフィー合併型
 単純型表皮水疱症 幽門閉鎖合併型
 上位グループ    単純型表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00584"">H00584</a>]
 表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>]","Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex.",,"PLEC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5339"">5339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10388"">K10388</a>]",,,,,,"ICD-11: EC30
 ICD-10: G71.0 Q81.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567408"">C567408</a>
 OMIM: <a href=""https://www.omim.org/entry/131950"">131950</a> <a href=""https://www.omim.org/entry/226670"">226670</a> <a href=""https://www.omim.org/entry/612138"">612138</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708287"">15708287</a>
 著者        Uitto J, Richard G
 タイトル      Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
 雑誌        Clin Dermatol 23:33-40 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.015"">10.1016/j.clindermatol.2004.09.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507384"">20507384</a>
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2009.00800.x"">10.1111/j.1346-8138.2009.00800.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11851880"">11851880</a> (EBS-Ogna)
 著者        Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr
 タイトル      A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
 雑誌        J Invest Dermatol 118:87-93 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.0022-202x.2001.01591.x"">10.1046/j.0022-202x.2001.01591.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20016501"">20016501</a> (EBS-MD)
 著者        Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF
 タイトル      PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
 雑誌        J Invest Dermatol 130:1178-81 (2010)
 DOI:<a href=""https://doi.org/10.1038/jid.2009.390"">10.1038/jid.2009.390</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15681471"">15681471</a> (EBS-PA)
 著者        Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H
 タイトル      Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
 雑誌        J Mol Diagn 7:28-35 (2005)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60005-0"">10.1016/S1525-1578(10)60005-0</a>"
H00586,"接合部型表皮水疱症
 下位グループ    接合部型表皮水疱症 Herlitz 型
 接合部型表皮水疱症 非 Herlitz 型
 接合部型表皮水疱症 幽門閉鎖合併型
 上位グループ    表皮水疱症 [DS:H01737]",,,"Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.",先天奇形,,"(JEB-H, JEB-nH) LAMA3 [HSA:3909] [KO:K06240]
 (JEB-H, JEB-nH) LAMB3 [HSA:3914] [KO:K06244]
 (JEB-H, JEB-nH) LAMC2 [HSA:3918] [KO:K06246]
 (JEB-nH) COL17A1 [HSA:1308] [KO:K07603]
 (JEB-PA) ITGB4 [HSA:3691] [KO:K06525]
 (JEB-PA) ITGA6 [HSA:3655] [KO:K06485]",,,,,,"ICD-11: EC31
 ICD-10: Q81
 MeSH: D016109
 OMIM: 226700 226650 226730","PMID:20616732
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:10.1097/MOP.0b013e32833bb74f
 PMID:20536471
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:10.1111/j.1749-6632.2010.05463.x
 PMID:15708287
 著者        Uitto J, Richard G
 タイトル      Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
 雑誌        Clin Dermatol 23:33-40 (2005)
 DOI:10.1016/j.clindermatol.2004.09.015
 PMID:20507384
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:10.1111/j.1346-8138.2009.00800.x
 PMID:20507631
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa.
 雑誌        Orphanet J Rare Dis 5:12 (2010)
 DOI:10.1186/1750-1172-5-12","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00586"">H00586</a>","接合部型表皮水疱症
 下位グループ    接合部型表皮水疱症 Herlitz 型
 接合部型表皮水疱症 非 Herlitz 型
 接合部型表皮水疱症 幽門閉鎖合併型
 上位グループ    表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>]","Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.",,"(JEB-H, JEB-nH) LAMA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3909"">3909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06240"">K06240</a>]
 (JEB-H, JEB-nH) LAMB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3914"">3914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06244"">K06244</a>]
 (JEB-H, JEB-nH) LAMC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3918"">3918</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06246"">K06246</a>]
 (JEB-nH) COL17A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1308"">1308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07603"">K07603</a>]
 (JEB-PA) ITGB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3691"">3691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06525"">K06525</a>]
 (JEB-PA) ITGA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3655"">3655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06485"">K06485</a>]",,,,,,"ICD-11: EC31
 ICD-10: Q81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016109"">D016109</a>
 OMIM: <a href=""https://www.omim.org/entry/226700"">226700</a> <a href=""https://www.omim.org/entry/226650"">226650</a> <a href=""https://www.omim.org/entry/226730"">226730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20616732"">20616732</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e32833bb74f"">10.1097/MOP.0b013e32833bb74f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20536471"">20536471</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05463.x"">10.1111/j.1749-6632.2010.05463.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708287"">15708287</a>
 著者        Uitto J, Richard G
 タイトル      Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
 雑誌        Clin Dermatol 23:33-40 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.015"">10.1016/j.clindermatol.2004.09.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507384"">20507384</a>
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2009.00800.x"">10.1111/j.1346-8138.2009.00800.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507631"">20507631</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa.
 雑誌        Orphanet J Rare Dis 5:12 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-12"">10.1186/1750-1172-5-12</a>"
H00587,"栄養障害型表皮水疱症
 下位グループ    栄養障害型表皮水疱症 優性型 (DDEB)
 栄養障害型表皮水疱症 劣性型 (RDEB)
 そう痒性を伴う表皮水疱症 (DEB-Pr)
 前脛骨性表皮水疱症
 上位グループ    表皮水疱症 [DS:H01737]",,,"Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation occurs in the dermis, are inherited in either autosomal dominant or autosomal recessive pattern. In the most severe subtype of recessive dystrophic epidermolysis bullosa, there is esophageal stenosis and pseudosyndactyly.",先天奇形,,COL7A1 [HSA:1294] [KO:K16628],,,,,,"ICD-11: EC32
 ICD-10: Q81.2
 MeSH: D016108
 OMIM: 131750 226600 604129 131850 132000","PMID:20616732
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:10.1097/MOP.0b013e32833bb74f
 PMID:16971478 (DDEB, RDEB)
 著者        Varki R, Sadowski S, Uitto J, Pfendner E
 タイトル      Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
 雑誌        J Med Genet 44:181-92 (2007)
 DOI:10.1136/jmg.2006.045302
 PMID:16965329 (DEB-Pr)
 著者        Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M
 タイトル      Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
 雑誌        Clin Genet 70:339-47 (2006)
 DOI:10.1111/j.1399-0004.2006.00679.x
 PMID:10583163 (pretibial)
 著者        Betts CM, Posteraro P, Costa AM, Varotti C, Schubert M, Bruckner-Tuderman L, Castiglia D
 タイトル      Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
 雑誌        Br J Dermatol 141:833-9 (1999)
 DOI:10.1046/j.1365-2133.1999.03155.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00587"">H00587</a>","栄養障害型表皮水疱症
 下位グループ    栄養障害型表皮水疱症 優性型 (DDEB)
 栄養障害型表皮水疱症 劣性型 (RDEB)
 そう痒性を伴う表皮水疱症 (DEB-Pr)
 前脛骨性表皮水疱症
 上位グループ    表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>]","Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation occurs in the dermis, are inherited in either autosomal dominant or autosomal recessive pattern. In the most severe subtype of recessive dystrophic epidermolysis bullosa, there is esophageal stenosis and pseudosyndactyly.",,"COL7A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1294"">1294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16628"">K16628</a>]",,,,,,"ICD-11: EC32
 ICD-10: Q81.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016108"">D016108</a>
 OMIM: <a href=""https://www.omim.org/entry/131750"">131750</a> <a href=""https://www.omim.org/entry/226600"">226600</a> <a href=""https://www.omim.org/entry/604129"">604129</a> <a href=""https://www.omim.org/entry/131850"">131850</a> <a href=""https://www.omim.org/entry/132000"">132000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20616732"">20616732</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: recent basic and clinical advances.
 雑誌        Curr Opin Pediatr 22:453-8 (2010)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e32833bb74f"">10.1097/MOP.0b013e32833bb74f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16971478"">16971478</a> (DDEB, <a href=""https://pubmed.ncbi.nlm.nih.gov/RDEB)"">RDEB)</a>
 著者        Varki R, Sadowski S, Uitto J, Pfendner E
 タイトル      Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
 雑誌        J Med Genet 44:181-92 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.045302"">10.1136/jmg.2006.045302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16965329"">16965329</a> (DEB-Pr)
 著者        Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M
 タイトル      Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
 雑誌        Clin Genet 70:339-47 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2006.00679.x"">10.1111/j.1399-0004.2006.00679.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10583163"">10583163</a> (pretibial)
 著者        Betts CM, Posteraro P, Costa AM, Varotti C, Schubert M, Bruckner-Tuderman L, Castiglia D
 タイトル      Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
 雑誌        Br J Dermatol 141:833-9 (1999)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2133.1999.03155.x"">10.1046/j.1365-2133.1999.03155.x</a>"
H00588,"キンドラー症候群
 上位グループ    表皮水疱症 [DS:H01737]",,,"Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity.",皮膚疾患,,KIND1 [HSA:55612] [KO:K17082],,,,,"For epidermolysis bullosa, see H00584-H00587.","ICD-11: EC33
 ICD-10: L81.6
 MeSH: C536321
 OMIM: 173650","PMID:20507384
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:10.1111/j.1346-8138.2009.00800.x
 PMID:12668616
 著者        Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
 雑誌        Hum Mol Genet 12:925-35 (2003)
 DOI:10.1093/hmg/ddg097","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00588"">H00588</a>","キンドラー症候群
 上位グループ    表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>]","Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity.",,"KIND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55612"">55612</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17082"">K17082</a>]",,,,,"For epidermolysis bullosa, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00584-H00587."">H00584-H00587.</a>","ICD-11: EC33
 ICD-10: L81.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536321"">C536321</a>
 OMIM: <a href=""https://www.omim.org/entry/173650"">173650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507384"">20507384</a>
 著者        Sawamura D, Nakano H, Matsuzaki Y
 タイトル      Overview of epidermolysis bullosa.
 雑誌        J Dermatol 37:214-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2009.00800.x"">10.1111/j.1346-8138.2009.00800.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12668616"">12668616</a>
 著者        Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
 雑誌        Hum Mol Genet 12:925-35 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg097"">10.1093/hmg/ddg097</a>"
H00589,滲出性硝子体網膜症,,,"Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes have all been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible for autosomal dominant FEVR.",神経系疾患,,"(EVR1) FZD4 [HSA:8322] [KO:K02354]
 (EVR2) NDP [HSA:4693] [KO:K25688]
 (EVR4) LRP5 [HSA:4041] [KO:K03068]
 (EVR5) TSPAN12 [HSA:23554] [KO:K17355]
 (EVR6) ZNF408 [HSA:79797] [KO:K24372]
 (EVR7) CTNNB1 [HSA:1499] [KO:K02105]",,,,,Exudative vitreoretinopathy 3 (EVR3) results from a deletion at chromosome 11p13-p12.,"ICD-11: LA13.3
 ICD-10: H35.0
 MeSH: C580083
 OMIM: 133780 305390 601813 613310 616468 617572","PMID:19837026
 著者        Clevers H
 タイトル      Eyeing up new Wnt pathway players.
 雑誌        Cell 139:227-9 (2009)
 DOI:10.1016/j.cell.2009.09.027
 PMID:20340138 (FZD4 NDP LRP5)
 著者        Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP
 タイトル      Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
 雑誌        Hum Mutat 31:656-66 (2010)
 DOI:10.1002/humu.21250
 PMID:19837033 (TSPAN12)
 著者        Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W
 タイトル      TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
 雑誌        Cell 139:299-311 (2009)
 DOI:10.1016/j.cell.2009.07.048
 PMID:23716654 (ZNF408)
 著者        Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP
 タイトル      ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
 雑誌        Proc Natl Acad Sci U S A 110:9856-61 (2013)
 DOI:10.1073/pnas.1220864110
 PMID:28575650 (CTNNB1)
 著者        Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C
 タイトル      Defects in the Cell Signaling Mediator beta-Catenin Cause the Retinal Vascular Condition FEVR.
 雑誌        Am J Hum Genet 100:960-968 (2017)
 DOI:10.1016/j.ajhg.2017.05.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00589"">H00589</a>",滲出性硝子体網膜症,"Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes have all been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible for autosomal dominant FEVR.",,"(EVR1) FZD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8322"">8322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02354"">K02354</a>]
 (EVR2) NDP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4693"">4693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25688"">K25688</a>]
 (EVR4) LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 (EVR5) TSPAN12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23554"">23554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17355"">K17355</a>]
 (EVR6) ZNF408 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79797"">79797</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24372"">K24372</a>]
 (EVR7) CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]",,,,,Exudative vitreoretinopathy 3 (EVR3) results from a deletion at chromosome 11p13-p12.,"ICD-11: LA13.3
 ICD-10: H35.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580083"">C580083</a>
 OMIM: <a href=""https://www.omim.org/entry/133780"">133780</a> <a href=""https://www.omim.org/entry/305390"">305390</a> <a href=""https://www.omim.org/entry/601813"">601813</a> <a href=""https://www.omim.org/entry/613310"">613310</a> <a href=""https://www.omim.org/entry/616468"">616468</a> <a href=""https://www.omim.org/entry/617572"">617572</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19837026"">19837026</a>
 著者        Clevers H
 タイトル      Eyeing up new Wnt pathway players.
 雑誌        Cell 139:227-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2009.09.027"">10.1016/j.cell.2009.09.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20340138"">20340138</a> (FZD4 <a href=""https://pubmed.ncbi.nlm.nih.gov/NDP"">NDP</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LRP5)"">LRP5)</a>
 著者        Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP
 タイトル      Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
 雑誌        Hum Mutat 31:656-66 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21250"">10.1002/humu.21250</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19837033"">19837033</a> (TSPAN12)
 著者        Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W
 タイトル      TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
 雑誌        Cell 139:299-311 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2009.07.048"">10.1016/j.cell.2009.07.048</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23716654"">23716654</a> (ZNF408)
 著者        Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP
 タイトル      ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
 雑誌        Proc Natl Acad Sci U S A 110:9856-61 (2013)
 DOI:<a href=""https://doi.org/10.1073/pnas.1220864110"">10.1073/pnas.1220864110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28575650"">28575650</a> (CTNNB1)
 著者        Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C
 タイトル      Defects in the Cell Signaling Mediator beta-Catenin Cause the Retinal Vascular Condition FEVR.
 雑誌        Am J Hum Genet 100:960-968 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.001"">10.1016/j.ajhg.2017.05.001</a>"
H00590,"先天性筋ジストロフィー
 下位グループ    6型コラーゲン関連筋疾患 [DS:H01341]
 メロシン欠損型先天性筋ジストロフィー (MDC1A) [DS:H01958]
 筋ジストロフィー・ジストログリカノパチー A 型 [DS:H00120]
 筋ジストロフィー・ジストログリカノパチー B 型 [DS:H01960]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:H01959]
 脊椎硬直症候群 [DS:H01310]
 ITGA7 欠損型筋ジストロフィー
 LMNA 欠損型筋ジストロフィー
 過可動を伴う筋ジストロフィー (CMDH)
 Davignon-Chauveau 型筋ジストロフィー (MDCDC)
 巨大円錐型筋ジストロフィー (MDCMC)
 白内障と知的障害を伴う筋ジストロフィー (MDCCAID)",,,"Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C.",神経系疾患; 筋骨格疾患,,"(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
 (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
 (CMDH) ITGA9 [HSA:3680] [KO:K06585]
 (MDCDC) TRIP4 [HSA:9325] [KO:K23398]
 (MDCMC) CHKB [HSA:1120] [KO:K14156]
 (MDCCAID) INPP5K [HSA:51763] [KO:K24222]",,,,,"Collagen VI related myopathies [DS:H01341] includes Ullrich CMD (UCMD).
 Muscular dystrophy-dystroglycanopathy type A [DS:H00120] includes Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD).
 Muscular dystrophy-dystroglycanopathy type B [DS:H01960] includes MDC1C and MDC1D.","ICD-11: 8C70.6
 ICD-10: G71.0
 MeSH: D009136
 OMIM: 613204 613205 617066 602541 617404","PMID:15351421
 著者        Muntoni F, Voit T
 タイトル      The congenital muscular dystrophies in 2004: a century of exciting progress.
 雑誌        Neuromuscul Disord 14:635-49 (2004)
 DOI:10.1016/j.nmd.2004.06.009
 PMID:21496624
 著者        Sparks SE, Escolar DM
 タイトル      Congenital muscular dystrophies.
 雑誌        Handb Clin Neurol 101:47-79 (2011)
 DOI:10.1016/B978-0-08-045031-5.00004-9
 PMID:25825463
 著者        Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC
 タイトル      Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the  American Association of Neuromuscular &amp; Electrodiagnostic Medicine.
 雑誌        Neurology 84:1369-78 (2015)
 DOI:10.1212/WNL.0000000000001416
 PMID:9590299
 著者        Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K
 タイトル      Mutations in the integrin alpha7 gene cause congenital myopathy.
 雑誌        Nat Genet 19:94-7 (1998)
 DOI:10.1038/ng0598-94
 PMID:15622532
 著者        Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R
 タイトル      p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
 雑誌        Ann Neurol 57:148-51 (2005)
 DOI:10.1002/ana.20359
 PMID:16760198
 著者        Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B
 タイトル      A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
 雑誌        Brain 129:2077-84 (2006)
 DOI:10.1093/brain/awl146
 PMID:27008887
 著者        Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Faure J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A
 タイトル      The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
 雑誌        Hum Mol Genet 25:1559-73 (2016)
 DOI:10.1093/hmg/ddw033
 PMID:21665002
 著者        Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I
 タイトル      A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
 雑誌        Am J Hum Genet 88:845-851 (2011)
 DOI:10.1016/j.ajhg.2011.05.010
 PMID:28190456
 著者        Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J
 タイトル      Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
 雑誌        Am J Hum Genet 100:523-536 (2017)
 DOI:10.1016/j.ajhg.2017.01.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>","先天性筋ジストロフィー
 下位グループ    6型コラーゲン関連筋疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>]
 メロシン欠損型先天性筋ジストロフィー (MDC1A) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01958"">H01958</a>]
 筋ジストロフィー・ジストログリカノパチー A 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00120"">H00120</a>]
 筋ジストロフィー・ジストログリカノパチー B 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01959"">H01959</a>]
 脊椎硬直症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01310"">H01310</a>]
 ITGA7 欠損型筋ジストロフィー
 LMNA 欠損型筋ジストロフィー
 過可動を伴う筋ジストロフィー (CMDH)
 Davignon-Chauveau 型筋ジストロフィー (MDCDC)
 巨大円錐型筋ジストロフィー (MDCMC)
 白内障と知的障害を伴う筋ジストロフィー (MDCCAID)","Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C.",,"(ITGA7-deficient CMD) ITGA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3679"">3679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06583"">K06583</a>]
 (LMNA-deficient CMD) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (CMDH) ITGA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3680"">3680</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06585"">K06585</a>]
 (MDCDC) TRIP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9325"">9325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23398"">K23398</a>]
 (MDCMC) CHKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1120"">1120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14156"">K14156</a>]
 (MDCCAID) INPP5K [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51763"">51763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24222"">K24222</a>]",,,,,"Collagen VI related myopathies [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>] includes Ullrich CMD (UCMD).
 Muscular dystrophy-dystroglycanopathy type A [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00120"">H00120</a>] includes Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD).
 Muscular dystrophy-dystroglycanopathy type B [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>] includes MDC1C and MDC1D.","ICD-11: 8C70.6
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009136"">D009136</a>
 OMIM: <a href=""https://www.omim.org/entry/613204"">613204</a> <a href=""https://www.omim.org/entry/613205"">613205</a> <a href=""https://www.omim.org/entry/617066"">617066</a> <a href=""https://www.omim.org/entry/602541"">602541</a> <a href=""https://www.omim.org/entry/617404"">617404</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15351421"">15351421</a>
 著者        Muntoni F, Voit T
 タイトル      The congenital muscular dystrophies in 2004: a century of exciting progress.
 雑誌        Neuromuscul Disord 14:635-49 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2004.06.009"">10.1016/j.nmd.2004.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496624"">21496624</a>
 著者        Sparks SE, Escolar DM
 タイトル      Congenital muscular dystrophies.
 雑誌        Handb Clin Neurol 101:47-79 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-08-045031-5.00004-9"">10.1016/B978-0-08-045031-5.00004-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25825463"">25825463</a>
 著者        Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC
 タイトル      Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the  American Association of Neuromuscular &amp; Electrodiagnostic Medicine.
 雑誌        Neurology 84:1369-78 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001416"">10.1212/WNL.0000000000001416</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9590299"">9590299</a>
 著者        Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K
 タイトル      Mutations in the integrin alpha7 gene cause congenital myopathy.
 雑誌        Nat Genet 19:94-7 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0598-94"">10.1038/ng0598-94</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15622532"">15622532</a>
 著者        Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R
 タイトル      p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
 雑誌        Ann Neurol 57:148-51 (2005)
 DOI:<a href=""https://doi.org/10.1002/ana.20359"">10.1002/ana.20359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16760198"">16760198</a>
 著者        Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B
 タイトル      A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
 雑誌        Brain 129:2077-84 (2006)
 DOI:<a href=""https://doi.org/10.1093/brain/awl146"">10.1093/brain/awl146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27008887"">27008887</a>
 著者        Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Faure J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A
 タイトル      The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
 雑誌        Hum Mol Genet 25:1559-73 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw033"">10.1093/hmg/ddw033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21665002"">21665002</a>
 著者        Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I
 タイトル      A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
 雑誌        Am J Hum Genet 88:845-851 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.010"">10.1016/j.ajhg.2011.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28190456"">28190456</a>
 著者        Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J
 タイトル      Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
 雑誌        Am J Hum Genet 100:523-536 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.01.024"">10.1016/j.ajhg.2017.01.024</a>"
H00591,顔面肩甲上腕型筋ジストロフィー,,,"Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness.",神経系疾患; 筋骨格疾患,,"(FSHD1) FRG1 [HSA:2483] [KO:K13122]
 (FSHD2) SMCHD1 [HSA:23347] [KO:K23113]
 (FSHD3) LRIF1 [HSA:55791] [KO:K23220]
 (FSHD4) DNMT3B [HSA:1789] [KO:K17399]",,,,,,"ICD-11: 8C70.3
 ICD-10: G71.0
 MeSH: D020391
 OMIM: 158900 158901 619477 619478","PMID:21288772
 著者        van der Maarel SM, Tawil R, Tapscott SJ
 タイトル      Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
 雑誌        Trends Mol Med 17:252-8 (2011)
 DOI:10.1016/j.molmed.2011.01.001
 PMID:21149563
 著者        Cabianca DS, Gabellini D
 タイトル      The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.
 雑誌        J Cell Biol 191:1049-60 (2010)
 DOI:10.1083/jcb.201007028
 PMID:23143600
 著者        Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM
 タイトル      Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
 雑誌        Nat Genet 44:1370-4 (2012)
 DOI:10.1038/ng.2454
 PMID:32467133
 著者        Hamanaka K, Sikrova D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM
 タイトル      Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
 雑誌        Neurology 94:e2441-e2447 (2020)
 DOI:10.1212/WNL.0000000000009617
 PMID:27153398
 著者        van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM
 タイトル      Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
 雑誌        Am J Hum Genet 98:1020-1029 (2016)
 DOI:10.1016/j.ajhg.2016.03.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00591"">H00591</a>",顔面肩甲上腕型筋ジストロフィー,"Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness.",,"(FSHD1) FRG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2483"">2483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13122"">K13122</a>]
 (FSHD2) SMCHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23347"">23347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23113"">K23113</a>]
 (FSHD3) LRIF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55791"">55791</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23220"">K23220</a>]
 (FSHD4) DNMT3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1789"">1789</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17399"">K17399</a>]",,,,,,"ICD-11: 8C70.3
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020391"">D020391</a>
 OMIM: <a href=""https://www.omim.org/entry/158900"">158900</a> <a href=""https://www.omim.org/entry/158901"">158901</a> <a href=""https://www.omim.org/entry/619477"">619477</a> <a href=""https://www.omim.org/entry/619478"">619478</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21288772"">21288772</a>
 著者        van der Maarel SM, Tawil R, Tapscott SJ
 タイトル      Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
 雑誌        Trends Mol Med 17:252-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.molmed.2011.01.001"">10.1016/j.molmed.2011.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21149563"">21149563</a>
 著者        Cabianca DS, Gabellini D
 タイトル      The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.
 雑誌        J Cell Biol 191:1049-60 (2010)
 DOI:<a href=""https://doi.org/10.1083/jcb.201007028"">10.1083/jcb.201007028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23143600"">23143600</a>
 著者        Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM
 タイトル      Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
 雑誌        Nat Genet 44:1370-4 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2454"">10.1038/ng.2454</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32467133"">32467133</a>
 著者        Hamanaka K, Sikrova D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM
 タイトル      Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
 雑誌        Neurology 94:e2441-e2447 (2020)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000009617"">10.1212/WNL.0000000000009617</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27153398"">27153398</a>
 著者        van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM
 タイトル      Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
 雑誌        Am J Hum Genet 98:1020-1029 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.013"">10.1016/j.ajhg.2016.03.013</a>"
H00592,"カルパイン異常症;
 肢帯型筋ジストロフィー2A",,,"Limb-girdle muscular dystrophy 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. This form of disorder is characterized by progressive muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples.",神経系疾患; 筋骨格疾患,,CAPN3 [HSA:825] [KO:K08573],,,,,,"ICD-11: 8C70.41
 ICD-10: G71.0
 MeSH: C535895
 OMIM: 253600","PMID:16884488
 著者        Duguez S, Bartoli M, Richard I
 タイトル      Calpain 3: a key regulator of the sarcomere?
 雑誌        FEBS J 273:3427-36 (2006)
 DOI:10.1111/j.1742-4658.2006.05351.x
 PMID:21496626
 著者        Gallardo E, Saenz A, Illa I
 タイトル      Limb-girdle muscular dystrophy 2A.
 雑誌        Handb Clin Neurol 101:97-110 (2011)
 DOI:10.1016/B978-0-08-045031-5.00006-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00592"">H00592</a>","カルパイン異常症;
 肢帯型筋ジストロフィー2A","Limb-girdle muscular dystrophy 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. This form of disorder is characterized by progressive muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples.",,"CAPN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:825"">825</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08573"">K08573</a>]",,,,,,"ICD-11: 8C70.41
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535895"">C535895</a>
 OMIM: <a href=""https://www.omim.org/entry/253600"">253600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16884488"">16884488</a>
 著者        Duguez S, Bartoli M, Richard I
 タイトル      Calpain 3: a key regulator of the sarcomere?
 雑誌        FEBS J 273:3427-36 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1742-4658.2006.05351.x"">10.1111/j.1742-4658.2006.05351.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496626"">21496626</a>
 著者        Gallardo E, Saenz A, Illa I
 タイトル      Limb-girdle muscular dystrophy 2A.
 雑誌        Handb Clin Neurol 101:97-110 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-08-045031-5.00006-2"">10.1016/B978-0-08-045031-5.00006-2</a>"
H00593,"肢帯型筋ジストロフィー
 下位グループ    サルコグリカン異常症 [DS:H00565]
 肢帯型筋ジストロフィー 1C [DS:H00567]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:H01959]
 心筋症および三角舌を伴う常染色体劣性遺伝性筋ジストロフィー (MDRCMTT)
 強直性脊椎および遠位関節拘縮を伴う常染色体劣性遺伝性筋ジストロフィー (MRRSDC)",,,"Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital, with the age at onset of symptoms varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina.",神経系疾患; 筋骨格疾患,,"(LGMDD1/1E) DNAJB6 [HSA:10049] [KO:K09512]
 (LGMDD2/1F) TNPO3 [HSA:23534] [KO:K15436]
 (LGMDD3/1G) HNRNPDL [HSA:9987] [KO:K13044]
 (LGMDD4/R1/2A) CAPN3 [HSA:825] [KO:K08573]
 (LGMDR2/2B) DYSF [HSA:8291] [KO:K18261]
 (LGMDR3/2D) SGCA [HSA:6442] [KO:K12565]
 (LGMDR4/2E) SGCB [HSA:6443] [KO:K12566]
 (LGMDR5/2C) SGCG [HSA:6445] [KO:K12564]
 (LGMDR6/2F) SGCD [HSA:6444] [KO:K12563]
 (LGMDR7/2G) TCAP [HSA:8557] [KO:K19879]
 (LGMDR8/2H) TRIM32 [HSA:22954] [KO:K10607]
 (LGMDR9/2I) FKRP [HSA:79147] [KO:K19873]
 (LGMDR10/2J) TTN [HSA:7273] [KO:K12567]
 (LGMDR11/2K) POMT1 [HSA:10585] [KO:K00728]
 (LGMDR12/2L) ANO5 [HSA:203859] [KO:K19480]
 (LGMDR13/2M) FKTN [HSA:2218] [KO:K19872]
 (LGMDR14/2N) POMT2 [HSA:29954] [KO:K00728]
 (LGMDR15/2O) POMGNT1 [HSA:55624] [KO:K09666]
 (LGMDR16/2P) DAG1 [HSA:1605] [KO:K06265]
 (LGMDR17/2Q) PLEC [HSA:5339] [KO:K10388]
 (LGMDR18/2S) TRAPPC11 [HSA:60684] [KO:K20308]
 (LGMDR19/2T) GMPPB [HSA:29925] [KO:K00966]
 (LGMDR20/2U) CRPPA [HSA:729920] [KO:K21031]
 (LGMDR21/2Z) POGLUT1 [HSA:56983] [KO:K13667]
 (LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
 (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
 (LGMDR25/2X) BVES [HSA:11149] [KO:K21108]
 (LGMDR26) POPDC3 [HSA:64208]
 (LGMDR27) JAG2 [HSA:3714] [KO:K21635]
 (MDRCMTT/LGMD2W) LIMS2 [HSA:55679] [KO:K23354]
 (MRRSDC/LGMD2Y) TOR1AIP1 [HSA:26092] [KO:K23001]",,,,,,"ICD-11: 8C70.4
 ICD-10: G71.0
 MeSH: D049288
 OMIM: 603511 608423 609115 618129 253600 253601 608099 604286 253700 601287 601954 254110 607155 608807 609308 611307 611588 613158 613157 613818 613723 615356 615352 616052 617232 618138 618135 616812 618848 616827 617072 619566","PMID:21825984
 著者        Nigro V, Aurino S, Piluso G
 タイトル      Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
 雑誌        Curr Opin Neurol 24:429-36 (2011)
 DOI:10.1097/WCO.0b013e32834aa38d
 PMID:22334415 (DNAJB6)
 著者        Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH
 タイトル      Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
 雑誌        Ann Neurol 71:407-16 (2012)
 DOI:10.1002/ana.22683
 PMID:12913210 (TNPO3)
 著者        Palenzuela L, Andreu AL, Gamez J, Vila MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M
 タイトル      A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
 雑誌        Neurology 61:404-6 (2003)
 DOI:10.1212/01.wnl.0000073984.46546.4f
 PMID:24647604 (HNRNPDL)
 著者        Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
 タイトル      A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
 雑誌        Hum Mol Genet 23:4103-10 (2014)
 DOI:10.1093/hmg/ddu127
 PMID:27259757 (CAPN3)
 著者        Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmuller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M
 タイトル      A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
 雑誌        Brain 139:2154-63 (2016)
 DOI:10.1093/brain/aww133
 PMID:9731527 (DYSF)
 著者        Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K
 タイトル      A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
 雑誌        Nat Genet 20:37-42 (1998)
 DOI:10.1038/1689
 PMID:8069911 (SGCA)
 著者        Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al.
 タイトル      Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
 雑誌        Cell 78:625-33 (1994)
 DOI:10.1016/0092-8674(94)90527-4
 PMID:7581448 (SGCB)
 著者        Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.
 タイトル      Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
 雑誌        Nat Genet 11:257-65 (1995)
 DOI:10.1038/ng1195-257
 PMID:7481775 (SGCG)
 著者        Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E
 タイトル      Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
 雑誌        Science 270:819-22 (1995)
 DOI:10.1126/science.270.5237.819
 PMID:8841194 (SGCD)
 著者        Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M
 タイトル      Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
 雑誌        Nat Genet 14:195-8 (1996)
 DOI:10.1038/ng1096-195
 PMID:10655062 (TCAP)
 著者        Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
 タイトル      Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
 雑誌        Nat Genet 24:163-6 (2000)
 DOI:10.1038/72822
 PMID:11822024 (TRIM32)
 著者        Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K
 タイトル      Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
 雑誌        Am J Hum Genet 70:663-72 (2002)
 DOI:10.1086/339083
 PMID:11741828 (FKRP)
 著者        Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F
 タイトル      Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
 雑誌        Hum Mol Genet 10:2851-9 (2001)
 DOI:10.1093/hmg/10.25.2851
 PMID:12145747 (TTN)
 著者        Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B
 タイトル      Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
 雑誌        Am J Hum Genet 71:492-500 (2002)
 DOI:10.1086/342380
 PMID:15792865 (POMT1)
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:10.1016/j.nmd.2005.01.013
 PMID:20096397 (ANO5)
 著者        Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
 タイトル      Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
 雑誌        Am J Hum Genet 86:213-21 (2010)
 DOI:10.1016/j.ajhg.2009.12.013
 PMID:17044012 (FKTN)
 著者        Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F
 タイトル      Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
 雑誌        Ann Neurol 60:603-10 (2006)
 DOI:10.1002/ana.21006
 PMID:17878207 (POMT2)
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:10.1093/brain/awm212
 PMID:18195152 (POMGNT1)
 著者        Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F
 タイトル      Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
 雑誌        Arch Neurol 65:137-41 (2008)
 DOI:10.1001/archneurol.2007.2
 PMID:14678799 (DAG1)
 著者        Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H
 タイトル      A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
 雑誌        Neuromuscul Disord 13:771-8 (2003)
 DOI:10.1016/S0960-8966(03)00161-5
 PMID:21109228 (PLEC)
 著者        Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P
 タイトル      Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
 雑誌        Am J Hum Genet 87:834-41 (2010)
 DOI:10.1016/j.ajhg.2010.10.017
 PMID:23830518 (TRAPPC11)
 著者        Bogershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nurnberg G, McLeod DR, Thiele H, Waggoner D, Altmuller J, Boycott KM, Schoser B, Nurnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE
 タイトル      Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
 雑誌        Am J Hum Genet 93:181-90 (2013)
 DOI:10.1016/j.ajhg.2013.05.028
 PMID:23768512 (GMPPB)
 著者        Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bonnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F
 タイトル      Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
 雑誌        Am J Hum Genet 93:29-41 (2013)
 DOI:10.1016/j.ajhg.2013.05.009
 PMID:23390185 (CRPPA)
 著者        Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E
 タイトル      Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.
 雑誌        Neurology 80:963-5 (2013)
 DOI:10.1212/WNL.0b013e3182840cbc
 PMID:27807076 (POGLUT1)
 著者        Servian-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gomez E, Rivas E, Nieto-Gonzalez JL, Rivero MC, Cabrera-Serrano M, Gomez-Sanchez L, Martinez-Lopez JA, Estrada B, Marquez C, Morgado Y, Suarez-Calvet X, Pita G, Bigot A, Gallardo E, Fernandez-Chacon R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C
 タイトル      A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
 雑誌        EMBO Mol Med 8:1289-1309 (2016)
 DOI:10.15252/emmm.201505815
 PMID:21953594 (LAMA2)
 著者        Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E
 タイトル      Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
 雑誌        Muscle Nerve 44:703-9 (2011)
 DOI:10.1002/mus.22132
 PMID:27066570 (POMGNT2)
 著者        Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I
 タイトル      Milder forms of muscular dystrophy associated with POMGNT2 mutations.
 雑誌        Neurol Genet 1:e33 (2015)
 DOI:10.1212/NXG.0000000000000033
 PMID:26642364 (BVES)
 著者        Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A
 タイトル      POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
 雑誌        J Clin Invest 126:239-53 (2016)
 DOI:10.1172/JCI79562
 PMID:31610034 (POPDC3)
 著者        Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V
 タイトル      POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
 雑誌        Ann Neurol 86:832-843 (2019)
 DOI:10.1002/ana.25620
 PMID:33861953 (JAG2)
 著者        Coppens S, Barnard AM, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB
 タイトル      A form of muscular dystrophy associated with pathogenic variants in JAG2.
 雑誌        Am J Hum Genet 108:840-856 (2021)
 DOI:10.1016/j.ajhg.2021.03.020
 PMID:25589244 (LIMS2)
 著者        Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM, Dyment DA
 タイトル      LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
 雑誌        Clin Genet 88:558-64 (2015)
 DOI:10.1111/cge.12561
 PMID:24856141 (TOR1AIP1)
 著者        Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P
 タイトル      Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
 雑誌        Neuromuscul Disord 24:624-33 (2014)
 DOI:10.1016/j.nmd.2014.04.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00593"">H00593</a>","肢帯型筋ジストロフィー
 下位グループ    サルコグリカン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00565"">H00565</a>]
 肢帯型筋ジストロフィー 1C [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00567"">H00567</a>]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01959"">H01959</a>]
 心筋症および三角舌を伴う常染色体劣性遺伝性筋ジストロフィー (MDRCMTT)
 強直性脊椎および遠位関節拘縮を伴う常染色体劣性遺伝性筋ジストロフィー (MRRSDC)","Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital, with the age at onset of symptoms varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina.",,"(LGMDD1/1E) DNAJB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10049"">10049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09512"">K09512</a>]
 (LGMDD2/1F) TNPO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23534"">23534</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15436"">K15436</a>]
 (LGMDD3/1G) HNRNPDL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9987"">9987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13044"">K13044</a>]
 (LGMDD4/R1/2A) CAPN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:825"">825</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08573"">K08573</a>]
 (LGMDR2/2B) DYSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8291"">8291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18261"">K18261</a>]
 (LGMDR3/2D) SGCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6442"">6442</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12565"">K12565</a>]
 (LGMDR4/2E) SGCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6443"">6443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12566"">K12566</a>]
 (LGMDR5/2C) SGCG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6445"">6445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12564"">K12564</a>]
 (LGMDR6/2F) SGCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6444"">6444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12563"">K12563</a>]
 (LGMDR7/2G) TCAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8557"">8557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19879"">K19879</a>]
 (LGMDR8/2H) TRIM32 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22954"">22954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10607"">K10607</a>]
 (LGMDR9/2I) FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]
 (LGMDR10/2J) TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]
 (LGMDR11/2K) POMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10585"">10585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (LGMDR12/2L) ANO5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203859"">203859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19480"">K19480</a>]
 (LGMDR13/2M) FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 (LGMDR14/2N) POMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29954"">29954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (LGMDR15/2O) POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 (LGMDR16/2P) DAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1605"">1605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06265"">K06265</a>]
 (LGMDR17/2Q) PLEC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5339"">5339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10388"">K10388</a>]
 (LGMDR18/2S) TRAPPC11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60684"">60684</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20308"">K20308</a>]
 (LGMDR19/2T) GMPPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29925"">29925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>]
 (LGMDR20/2U) CRPPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729920"">729920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21031"">K21031</a>]
 (LGMDR21/2Z) POGLUT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56983"">56983</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13667"">K13667</a>]
 (LGMDR23) LAMA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3908"">3908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05637"">K05637</a>]
 (LGMDR24) POMGNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84892"">84892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18207"">K18207</a>]
 (LGMDR25/2X) BVES [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11149"">11149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21108"">K21108</a>]
 (LGMDR26) POPDC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64208"">64208</a>]
 (LGMDR27) JAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3714"">3714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21635"">K21635</a>]
 (MDRCMTT/LGMD2W) LIMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55679"">55679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23354"">K23354</a>]
 (MRRSDC/LGMD2Y) TOR1AIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26092"">26092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23001"">K23001</a>]",,,,,,"ICD-11: 8C70.4
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049288"">D049288</a>
 OMIM: <a href=""https://www.omim.org/entry/603511"">603511</a> <a href=""https://www.omim.org/entry/608423"">608423</a> <a href=""https://www.omim.org/entry/609115"">609115</a> <a href=""https://www.omim.org/entry/618129"">618129</a> <a href=""https://www.omim.org/entry/253600"">253600</a> <a href=""https://www.omim.org/entry/253601"">253601</a> <a href=""https://www.omim.org/entry/608099"">608099</a> <a href=""https://www.omim.org/entry/604286"">604286</a> <a href=""https://www.omim.org/entry/253700"">253700</a> <a href=""https://www.omim.org/entry/601287"">601287</a> <a href=""https://www.omim.org/entry/601954"">601954</a> <a href=""https://www.omim.org/entry/254110"">254110</a> <a href=""https://www.omim.org/entry/607155"">607155</a> <a href=""https://www.omim.org/entry/608807"">608807</a> <a href=""https://www.omim.org/entry/609308"">609308</a> <a href=""https://www.omim.org/entry/611307"">611307</a> <a href=""https://www.omim.org/entry/611588"">611588</a> <a href=""https://www.omim.org/entry/613158"">613158</a> <a href=""https://www.omim.org/entry/613157"">613157</a> <a href=""https://www.omim.org/entry/613818"">613818</a> <a href=""https://www.omim.org/entry/613723"">613723</a> <a href=""https://www.omim.org/entry/615356"">615356</a> <a href=""https://www.omim.org/entry/615352"">615352</a> <a href=""https://www.omim.org/entry/616052"">616052</a> <a href=""https://www.omim.org/entry/617232"">617232</a> <a href=""https://www.omim.org/entry/618138"">618138</a> <a href=""https://www.omim.org/entry/618135"">618135</a> <a href=""https://www.omim.org/entry/616812"">616812</a> <a href=""https://www.omim.org/entry/618848"">618848</a> <a href=""https://www.omim.org/entry/616827"">616827</a> <a href=""https://www.omim.org/entry/617072"">617072</a> <a href=""https://www.omim.org/entry/619566"">619566</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21825984"">21825984</a>
 著者        Nigro V, Aurino S, Piluso G
 タイトル      Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
 雑誌        Curr Opin Neurol 24:429-36 (2011)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32834aa38d"">10.1097/WCO.0b013e32834aa38d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22334415"">22334415</a> (DNAJB6)
 著者        Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH
 タイトル      Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
 雑誌        Ann Neurol 71:407-16 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.22683"">10.1002/ana.22683</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12913210"">12913210</a> (TNPO3)
 著者        Palenzuela L, Andreu AL, Gamez J, Vila MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M
 タイトル      A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
 雑誌        Neurology 61:404-6 (2003)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000073984.46546.4f"">10.1212/01.wnl.0000073984.46546.4f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24647604"">24647604</a> (HNRNPDL)
 著者        Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
 タイトル      A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
 雑誌        Hum Mol Genet 23:4103-10 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu127"">10.1093/hmg/ddu127</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259757"">27259757</a> (CAPN3)
 著者        Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmuller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M
 タイトル      A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
 雑誌        Brain 139:2154-63 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/aww133"">10.1093/brain/aww133</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9731527"">9731527</a> (DYSF)
 著者        Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K
 タイトル      A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
 雑誌        Nat Genet 20:37-42 (1998)
 DOI:<a href=""https://doi.org/10.1038/1689"">10.1038/1689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8069911"">8069911</a> (SGCA)
 著者        Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al.
 タイトル      Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
 雑誌        Cell 78:625-33 (1994)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(94)90527-4"">10.1016/0092-8674(94)90527-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7581448"">7581448</a> (SGCB)
 著者        Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.
 タイトル      Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
 雑誌        Nat Genet 11:257-65 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1195-257"">10.1038/ng1195-257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7481775"">7481775</a> (SGCG)
 著者        Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E
 タイトル      Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
 雑誌        Science 270:819-22 (1995)
 DOI:<a href=""https://doi.org/10.1126/science.270.5237.819"">10.1126/science.270.5237.819</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8841194"">8841194</a> (SGCD)
 著者        Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M
 タイトル      Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
 雑誌        Nat Genet 14:195-8 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1096-195"">10.1038/ng1096-195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10655062"">10655062</a> (TCAP)
 著者        Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
 タイトル      Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
 雑誌        Nat Genet 24:163-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/72822"">10.1038/72822</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11822024"">11822024</a> (TRIM32)
 著者        Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K
 タイトル      Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
 雑誌        Am J Hum Genet 70:663-72 (2002)
 DOI:<a href=""https://doi.org/10.1086/339083"">10.1086/339083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11741828"">11741828</a> (FKRP)
 著者        Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F
 タイトル      Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
 雑誌        Hum Mol Genet 10:2851-9 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.25.2851"">10.1093/hmg/10.25.2851</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12145747"">12145747</a> (TTN)
 著者        Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B
 タイトル      Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
 雑誌        Am J Hum Genet 71:492-500 (2002)
 DOI:<a href=""https://doi.org/10.1086/342380"">10.1086/342380</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15792865"">15792865</a> (POMT1)
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2005.01.013"">10.1016/j.nmd.2005.01.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20096397"">20096397</a> (ANO5)
 著者        Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
 タイトル      Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
 雑誌        Am J Hum Genet 86:213-21 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.013"">10.1016/j.ajhg.2009.12.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17044012"">17044012</a> (FKTN)
 著者        Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F
 タイトル      Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
 雑誌        Ann Neurol 60:603-10 (2006)
 DOI:<a href=""https://doi.org/10.1002/ana.21006"">10.1002/ana.21006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17878207"">17878207</a> (POMT2)
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm212"">10.1093/brain/awm212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18195152"">18195152</a> (POMGNT1)
 著者        Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F
 タイトル      Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
 雑誌        Arch Neurol 65:137-41 (2008)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2007.2"">10.1001/archneurol.2007.2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14678799"">14678799</a> (DAG1)
 著者        Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H
 タイトル      A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
 雑誌        Neuromuscul Disord 13:771-8 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(03)00161-5"">10.1016/S0960-8966(03)00161-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21109228"">21109228</a> (PLEC)
 著者        Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P
 タイトル      Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
 雑誌        Am J Hum Genet 87:834-41 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.017"">10.1016/j.ajhg.2010.10.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23830518"">23830518</a> (TRAPPC11)
 著者        Bogershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nurnberg G, McLeod DR, Thiele H, Waggoner D, Altmuller J, Boycott KM, Schoser B, Nurnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE
 タイトル      Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
 雑誌        Am J Hum Genet 93:181-90 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.028"">10.1016/j.ajhg.2013.05.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23768512"">23768512</a> (GMPPB)
 著者        Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bonnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F
 タイトル      Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
 雑誌        Am J Hum Genet 93:29-41 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.009"">10.1016/j.ajhg.2013.05.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23390185"">23390185</a> (CRPPA)
 著者        Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E
 タイトル      Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.
 雑誌        Neurology 80:963-5 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3182840cbc"">10.1212/WNL.0b013e3182840cbc</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27807076"">27807076</a> (POGLUT1)
 著者        Servian-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gomez E, Rivas E, Nieto-Gonzalez JL, Rivero MC, Cabrera-Serrano M, Gomez-Sanchez L, Martinez-Lopez JA, Estrada B, Marquez C, Morgado Y, Suarez-Calvet X, Pita G, Bigot A, Gallardo E, Fernandez-Chacon R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C
 タイトル      A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
 雑誌        EMBO Mol Med 8:1289-1309 (2016)
 DOI:<a href=""https://doi.org/10.15252/emmm.201505815"">10.15252/emmm.201505815</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21953594"">21953594</a> (LAMA2)
 著者        Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E
 タイトル      Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
 雑誌        Muscle Nerve 44:703-9 (2011)
 DOI:<a href=""https://doi.org/10.1002/mus.22132"">10.1002/mus.22132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27066570"">27066570</a> (POMGNT2)
 著者        Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I
 タイトル      Milder forms of muscular dystrophy associated with POMGNT2 mutations.
 雑誌        Neurol Genet 1:e33 (2015)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000033"">10.1212/NXG.0000000000000033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26642364"">26642364</a> (BVES)
 著者        Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A
 タイトル      POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
 雑誌        J Clin Invest 126:239-53 (2016)
 DOI:<a href=""https://doi.org/10.1172/JCI79562"">10.1172/JCI79562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31610034"">31610034</a> (POPDC3)
 著者        Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V
 タイトル      POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
 雑誌        Ann Neurol 86:832-843 (2019)
 DOI:<a href=""https://doi.org/10.1002/ana.25620"">10.1002/ana.25620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33861953"">33861953</a> (JAG2)
 著者        Coppens S, Barnard AM, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB
 タイトル      A form of muscular dystrophy associated with pathogenic variants in JAG2.
 雑誌        Am J Hum Genet 108:840-856 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.03.020"">10.1016/j.ajhg.2021.03.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25589244"">25589244</a> (LIMS2)
 著者        Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM, Dyment DA
 タイトル      LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
 雑誌        Clin Genet 88:558-64 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12561"">10.1111/cge.12561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24856141"">24856141</a> (TOR1AIP1)
 著者        Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P
 タイトル      Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
 雑誌        Neuromuscul Disord 24:624-33 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2014.04.007"">10.1016/j.nmd.2014.04.007</a>"
H00594,"遠位型ミオパチー
 下位グループ    三好型ミオパチー (MM) [DS:H01965]
 埜中ミオパチー (DMRV) [DS:H00596]
 Welander 遠位型ミオパチー (WDM) [DS:H01975]
 脛骨筋ジストロフィー (TMD) [DS:H01976]
 Laing 遠位型ミオパチー (MPD1) [DS:H01977]
 遠位型前脛骨筋ミオパチー [DS:H00566]
 遠位型ミオパチー, Tateyama タイプ [DS:H02182]
 Williams 遠位型ミオパチー (MPD4)",,,"Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.",神経系疾患; 筋骨格疾患,,"(MM1,DMAT) DYSF [HSA:8291] [KO:K18261]
 (MM3) ANO5 [HSA:203859] [KO:K19480]
 (DMRV) GNE [HSA:10020] [KO:K12409]
 (WDM) TIA1 [HSA:7072] [KO:K13201]
 (TMD) TTN [HSA:7273] [KO:K12567]
 (MPD1) MYH7 [HSA:4625] [KO:K17751]
 (MPD4) FLNC [HSA:2318] [KO:K04437]
 (MPD5) ADSSL1 [HSA:122622] [KO:K01939]
 (MPDT) CAV3 [HSA:859] [KO:K12959]",,,,,"For myofibrillar myopathies, see H00595.","ICD-11: 8C75
 ICD-10: G71.0 G71.8
 MeSH: D049310
 OMIM: 254130 613319 605820 604454 600334 160500 614065 614321 617030 606768","PMID:20225017
 著者        Udd B
 タイトル      Genetics and pathogenesis of distal muscular dystrophies.
 雑誌        Adv Exp Med Biol 652:23-38 (2009)
 DOI:10.1007/978-90-481-2813-6_3
 PMID:17029922
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:10.1016/j.bbadis.2006.08.005
 PMID:18974558
 著者        Malicdan MC, Nonaka I
 タイトル      Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
 雑誌        Neurol India 56:314-24 (2008)
 DOI:10.4103/0028-3886.43450
 PMID:17132147
 著者        Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R
 タイトル      Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
 雑誌        Traffic 8:77-88 (2007)
 DOI:10.1111/j.1600-0854.2006.00505.x
 PMID:23401021
 著者        Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
 タイトル      Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
 雑誌        Ann Neurol 73:500-9 (2013)
 DOI:10.1002/ana.23831
 PMID:21620354
 著者        Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PFM, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG
 タイトル      Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
 雑誌        Am J Hum Genet 88:729-740 (2011)
 DOI:10.1016/j.ajhg.2011.04.021
 PMID:26506222
 著者        Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO
 タイトル      ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
 雑誌        Ann Neurol 79:231-43 (2016)
 DOI:10.1002/ana.24550","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>","遠位型ミオパチー
 下位グループ    三好型ミオパチー (MM) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01965"">H01965</a>]
 埜中ミオパチー (DMRV) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00596"">H00596</a>]
 Welander 遠位型ミオパチー (WDM) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01975"">H01975</a>]
 脛骨筋ジストロフィー (TMD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01976"">H01976</a>]
 Laing 遠位型ミオパチー (MPD1) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01977"">H01977</a>]
 遠位型前脛骨筋ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00566"">H00566</a>]
 遠位型ミオパチー, Tateyama タイプ [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02182"">H02182</a>]
 Williams 遠位型ミオパチー (MPD4)","Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.",,"(MM1,DMAT) DYSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8291"">8291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18261"">K18261</a>]
 (MM3) ANO5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203859"">203859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19480"">K19480</a>]
 (DMRV) GNE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10020"">10020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12409"">K12409</a>]
 (WDM) TIA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7072"">7072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13201"">K13201</a>]
 (TMD) TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]
 (MPD1) MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (MPD4) FLNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2318"">2318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (MPD5) ADSSL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:122622"">122622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01939"">K01939</a>]
 (MPDT) CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]",,,,,"For myofibrillar myopathies, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00595."">H00595.</a>","ICD-11: 8C75
 ICD-10: G71.0 G71.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049310"">D049310</a>
 OMIM: <a href=""https://www.omim.org/entry/254130"">254130</a> <a href=""https://www.omim.org/entry/613319"">613319</a> <a href=""https://www.omim.org/entry/605820"">605820</a> <a href=""https://www.omim.org/entry/604454"">604454</a> <a href=""https://www.omim.org/entry/600334"">600334</a> <a href=""https://www.omim.org/entry/160500"">160500</a> <a href=""https://www.omim.org/entry/614065"">614065</a> <a href=""https://www.omim.org/entry/614321"">614321</a> <a href=""https://www.omim.org/entry/617030"">617030</a> <a href=""https://www.omim.org/entry/606768"">606768</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20225017"">20225017</a>
 著者        Udd B
 タイトル      Genetics and pathogenesis of distal muscular dystrophies.
 雑誌        Adv Exp Med Biol 652:23-38 (2009)
 DOI:<a href=""https://doi.org/10.1007/978-90-481-2813-6_3"">10.1007/978-90-481-2813-6_3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17029922"">17029922</a>
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2006.08.005"">10.1016/j.bbadis.2006.08.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18974558"">18974558</a>
 著者        Malicdan MC, Nonaka I
 タイトル      Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
 雑誌        Neurol India 56:314-24 (2008)
 DOI:<a href=""https://doi.org/10.4103/0028-3886.43450"">10.4103/0028-3886.43450</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17132147"">17132147</a>
 著者        Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R
 タイトル      Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
 雑誌        Traffic 8:77-88 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0854.2006.00505.x"">10.1111/j.1600-0854.2006.00505.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23401021"">23401021</a>
 著者        Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
 タイトル      Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
 雑誌        Ann Neurol 73:500-9 (2013)
 DOI:<a href=""https://doi.org/10.1002/ana.23831"">10.1002/ana.23831</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21620354"">21620354</a>
 著者        Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PFM, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG
 タイトル      Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
 雑誌        Am J Hum Genet 88:729-740 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.021"">10.1016/j.ajhg.2011.04.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26506222"">26506222</a>
 著者        Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO
 タイトル      ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
 雑誌        Ann Neurol 79:231-43 (2016)
 DOI:<a href=""https://doi.org/10.1002/ana.24550"">10.1002/ana.24550</a>"
H00595,"筋原線維性ミオパチー
 下位グループ    デスミン関連ミオパチー
 αB-クリスタリン関連ミオパチー
 Myotilin 関連ミオパチー
 Zasp 関連ミオパチー
 フィラミン関連ミオパチー
 BAG3-関連ミオパチー",,,"Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share molecular pathways involved in actin dynamics organized by the Z-disk. Besides accumulations of these proteins, congophilic amyloid products of myofibrillar degradation and ectopic aggregation of dystrophin and gelsolin appear in abnormal myofibers.",神経系疾患; 筋骨格疾患,,"(MFM1) DES [HSA:1674] [KO:K07610]
 (MFM2) CRYAB [HSA:1410] [KO:K09542]
 (MFM3) MYOT [HSA:9499] [KO:K19875]
 (MFM4) LDB3 [HSA:11155] [KO:K19867]
 (MFM5) FLNC [HSA:2318] [KO:K04437]
 (MFM6) BAG3 [HSA:9531] [KO:K09557]
 (MFM7) KY [HSA:339855] [KO:K24456]
 (MFM8) PYROXD1 [HSA:79912] [KO:K24426]
 (MFM9) TTN [HSA:7273] [KO:K12567]
 (MFM10) SVIL [HSA:6840] [KO:K10369]
 (MFM11) UNC45B [HSA:146862] [KO:K21991]
 (MFM12) MYL2 [HSA:4633] [KO:K10351]",,,,,,"ICD-11: 8C76
 ICD-10: G71.8
 MeSH: C580316 C563319 C563848 C563775 C563718 C537932 C567843
 OMIM: 601419 608810 609200 609452 609524 612954 617114 617258 619040 619178 603689 619424","PMID:20301672
 著者        Selcen D, Engel AG
 タイトル      Myofibrillar Myopathy
 雑誌        GeneReviews (1993)
 PMID:17029922
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:10.1016/j.bbadis.2006.08.005
 PMID:9697706 (DES)
 著者        Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC
 タイトル      Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
 雑誌        Nat Genet 19:402-3 (1998)
 DOI:10.1038/1300
 PMID:9731540 (CRYAB)
 著者        Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M
 タイトル      A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
 雑誌        Nat Genet 20:92-5 (1998)
 DOI:10.1038/1765
 PMID:10958653 (MYOT)
 著者        Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC
 タイトル      Myotilin is mutated in limb girdle muscular dystrophy 1A.
 雑誌        Hum Mol Genet 9:2141-7 (2000)
 DOI:10.1093/hmg/9.14.2141
 PMID:15668942 (LDB3)
 著者        Selcen D, Engel AG
 タイトル      Mutations in ZASP define a novel form of muscular dystrophy in humans.
 雑誌        Ann Neurol 57:269-76 (2005)
 DOI:10.1002/ana.20376
 PMID:15929027 (FLNC)
 著者        Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A
 タイトル      A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
 雑誌        Am J Hum Genet 77:297-304 (2005)
 DOI:10.1086/431959
 PMID:19085932 (BAG3)
 著者        Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG
 タイトル      Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
 雑誌        Ann Neurol 65:83-9 (2009)
 DOI:10.1002/ana.21553
 PMID:27484770 (KY)
 著者        Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M
 タイトル      Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
 雑誌        Acta Neuropathol 132:475-8 (2016)
 DOI:10.1007/s00401-016-1602-9
 PMID:27745833 (PYROXD1)
 著者        O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bonnemann CG, Laporte J, Cooper ST
 タイトル      Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
 雑誌        Am J Hum Genet 99:1086-1105 (2016)
 DOI:10.1016/j.ajhg.2016.09.005
 PMID:22577215 (TTN)
 著者        Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evila A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF
 タイトル      Titin mutation segregates with hereditary myopathy with early respiratory failure.
 雑誌        Brain 135:1695-713 (2012)
 DOI:10.1093/brain/aws102
 PMID:32779703 (SVIL)
 著者        Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Gotzl R, Luna EJ, Lochmuller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C
 タイトル      Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
 雑誌        Brain 143:2406-2420 (2020)
 DOI:10.1093/brain/awaa206
 PMID:31852522 (UNC45B)
 著者        Dafsari HS, Kocaturk NM, Daimaguler HS, Brunn A, Dotsch J, Weis J, Deckert M, Cirak S
 タイトル      Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
 雑誌        Acta Neuropathol Commun 7:211 (2019)
 DOI:10.1186/s40478-019-0869-1
 PMID:23365102 (MYL2)
 著者        Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nurnberg G, Nurnberg P, Baas F
 タイトル      Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
 雑誌        Brain 136:282-93 (2013)
 DOI:10.1093/brain/aws293","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00595"">H00595</a>","筋原線維性ミオパチー
 下位グループ    デスミン関連ミオパチー
 αB-クリスタリン関連ミオパチー
 Myotilin 関連ミオパチー
 Zasp 関連ミオパチー
 フィラミン関連ミオパチー
 BAG3-関連ミオパチー","Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share molecular pathways involved in actin dynamics organized by the Z-disk. Besides accumulations of these proteins, congophilic amyloid products of myofibrillar degradation and ectopic aggregation of dystrophin and gelsolin appear in abnormal myofibers.",,"(MFM1) DES [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1674"">1674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07610"">K07610</a>]
 (MFM2) CRYAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1410"">1410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09542"">K09542</a>]
 (MFM3) MYOT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9499"">9499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19875"">K19875</a>]
 (MFM4) LDB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11155"">11155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19867"">K19867</a>]
 (MFM5) FLNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2318"">2318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (MFM6) BAG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9531"">9531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09557"">K09557</a>]
 (MFM7) KY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:339855"">339855</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24456"">K24456</a>]
 (MFM8) PYROXD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79912"">79912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24426"">K24426</a>]
 (MFM9) TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]
 (MFM10) SVIL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6840"">6840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10369"">K10369</a>]
 (MFM11) UNC45B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146862"">146862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21991"">K21991</a>]
 (MFM12) MYL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4633"">4633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10351"">K10351</a>]",,,,,,"ICD-11: 8C76
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580316"">C580316</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563319"">C563319</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563848"">C563848</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563775"">C563775</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563718"">C563718</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537932"">C537932</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567843"">C567843</a>
 OMIM: <a href=""https://www.omim.org/entry/601419"">601419</a> <a href=""https://www.omim.org/entry/608810"">608810</a> <a href=""https://www.omim.org/entry/609200"">609200</a> <a href=""https://www.omim.org/entry/609452"">609452</a> <a href=""https://www.omim.org/entry/609524"">609524</a> <a href=""https://www.omim.org/entry/612954"">612954</a> <a href=""https://www.omim.org/entry/617114"">617114</a> <a href=""https://www.omim.org/entry/617258"">617258</a> <a href=""https://www.omim.org/entry/619040"">619040</a> <a href=""https://www.omim.org/entry/619178"">619178</a> <a href=""https://www.omim.org/entry/603689"">603689</a> <a href=""https://www.omim.org/entry/619424"">619424</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301672"">20301672</a>
 著者        Selcen D, Engel AG
 タイトル      Myofibrillar Myopathy
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17029922"">17029922</a>
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2006.08.005"">10.1016/j.bbadis.2006.08.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9697706"">9697706</a> (DES)
 著者        Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC
 タイトル      Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
 雑誌        Nat Genet 19:402-3 (1998)
 DOI:<a href=""https://doi.org/10.1038/1300"">10.1038/1300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9731540"">9731540</a> (CRYAB)
 著者        Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M
 タイトル      A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
 雑誌        Nat Genet 20:92-5 (1998)
 DOI:<a href=""https://doi.org/10.1038/1765"">10.1038/1765</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10958653"">10958653</a> (MYOT)
 著者        Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC
 タイトル      Myotilin is mutated in limb girdle muscular dystrophy 1A.
 雑誌        Hum Mol Genet 9:2141-7 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.14.2141"">10.1093/hmg/9.14.2141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15668942"">15668942</a> (LDB3)
 著者        Selcen D, Engel AG
 タイトル      Mutations in ZASP define a novel form of muscular dystrophy in humans.
 雑誌        Ann Neurol 57:269-76 (2005)
 DOI:<a href=""https://doi.org/10.1002/ana.20376"">10.1002/ana.20376</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15929027"">15929027</a> (FLNC)
 著者        Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A
 タイトル      A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
 雑誌        Am J Hum Genet 77:297-304 (2005)
 DOI:<a href=""https://doi.org/10.1086/431959"">10.1086/431959</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19085932"">19085932</a> (BAG3)
 著者        Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG
 タイトル      Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
 雑誌        Ann Neurol 65:83-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/ana.21553"">10.1002/ana.21553</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27484770"">27484770</a> (KY)
 著者        Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M
 タイトル      Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
 雑誌        Acta Neuropathol 132:475-8 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00401-016-1602-9"">10.1007/s00401-016-1602-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27745833"">27745833</a> (PYROXD1)
 著者        O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bonnemann CG, Laporte J, Cooper ST
 タイトル      Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
 雑誌        Am J Hum Genet 99:1086-1105 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.005"">10.1016/j.ajhg.2016.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22577215"">22577215</a> (TTN)
 著者        Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evila A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF
 タイトル      Titin mutation segregates with hereditary myopathy with early respiratory failure.
 雑誌        Brain 135:1695-713 (2012)
 DOI:<a href=""https://doi.org/10.1093/brain/aws102"">10.1093/brain/aws102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32779703"">32779703</a> (SVIL)
 著者        Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Gotzl R, Luna EJ, Lochmuller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C
 タイトル      Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
 雑誌        Brain 143:2406-2420 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa206"">10.1093/brain/awaa206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31852522"">31852522</a> (UNC45B)
 著者        Dafsari HS, Kocaturk NM, Daimaguler HS, Brunn A, Dotsch J, Weis J, Deckert M, Cirak S
 タイトル      Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
 雑誌        Acta Neuropathol Commun 7:211 (2019)
 DOI:<a href=""https://doi.org/10.1186/s40478-019-0869-1"">10.1186/s40478-019-0869-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23365102"">23365102</a> (MYL2)
 著者        Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nurnberg G, Nurnberg P, Baas F
 タイトル      Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
 雑誌        Brain 136:282-93 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/aws293"">10.1093/brain/aws293</a>"
H00596,"埜中ミオパチー;
 縁取り空胞を伴う遠位型ミオパチー;
 遺伝性封入体ミオパチー
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Nonaka distal myopathy, also known as distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. DMRV is a myopathy involving distal muscles, although other muscles are likewise involved. The pathological characteristics are the presence of rimmed vacuoles in muscle fibers, but are not specific to this myopathy, and the presence of scattered small angular and atrophic fibers.",神経系疾患; 筋骨格疾患,,GNE [HSA:10020] [KO:K12409],,,,,,"ICD-11: 8C75
 ICD-10: G71.8
 MeSH: C536816
 OMIM: 605820","PMID:18646567
 著者        Malicdan MC, Noguchi S, Nishino I
 タイトル      Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
 雑誌        Acta Myol 26:171-5 (2007)
 PMID:17029922
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:10.1016/j.bbadis.2006.08.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00596"">H00596</a>","埜中ミオパチー;
 縁取り空胞を伴う遠位型ミオパチー;
 遺伝性封入体ミオパチー
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Nonaka distal myopathy, also known as distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. DMRV is a myopathy involving distal muscles, although other muscles are likewise involved. The pathological characteristics are the presence of rimmed vacuoles in muscle fibers, but are not specific to this myopathy, and the presence of scattered small angular and atrophic fibers.",,"GNE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10020"">10020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12409"">K12409</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536816"">C536816</a>
 OMIM: <a href=""https://www.omim.org/entry/605820"">605820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18646567"">18646567</a>
 著者        Malicdan MC, Noguchi S, Nishino I
 タイトル      Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
 雑誌        Acta Myol 26:171-5 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17029922"">17029922</a>
 著者        Udd B
 タイトル      Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
 雑誌        Biochim Biophys Acta 1772:145-58 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2006.08.005"">10.1016/j.bbadis.2006.08.005</a>"
H00597,シュナイダー ロビンソン症候群,,,"Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.",先天奇形,,SMS [HSA:6611] [KO:K00802],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: C536678
 OMIM: 309583","PMID:19206178
 著者        Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE
 タイトル      A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
 雑誌        Am J Med Genet A 149A:328-35 (2009)
 DOI:10.1002/ajmg.a.32641
 PMID:20556796
 著者        Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E
 タイトル      Computational analysis of missense mutations causing Snyder-Robinson syndrome.
 雑誌        Hum Mutat 31:1043-9 (2010)
 DOI:10.1002/humu.21310
 PMID:19859664
 著者        Pegg AE, Michael AJ
 タイトル      Spermine synthase.
 雑誌        Cell Mol Life Sci 67:113-21 (2010)
 DOI:10.1007/s00018-009-0165-5
 PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00597"">H00597</a>",シュナイダー ロビンソン症候群,"Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.",,"SMS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6611"">6611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00802"">K00802</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536678"">C536678</a>
 OMIM: <a href=""https://www.omim.org/entry/309583"">309583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19206178"">19206178</a>
 著者        Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE
 タイトル      A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
 雑誌        Am J Med Genet A 149A:328-35 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32641"">10.1002/ajmg.a.32641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20556796"">20556796</a>
 著者        Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E
 タイトル      Computational analysis of missense mutations causing Snyder-Robinson syndrome.
 雑誌        Hum Mutat 31:1043-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21310"">10.1002/humu.21310</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19859664"">19859664</a>
 著者        Pegg AE, Michael AJ
 タイトル      Spermine synthase.
 雑誌        Cell Mol Life Sci 67:113-21 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00018-009-0165-5"">10.1007/s00018-009-0165-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>"
H00598,"46,XX 精巣性分化疾患
 下位グループ    SERKAL 症候群 [DS:H02317]
 皮膚有棘細胞癌と性逆転を伴う掌蹠角化症 (PPK-SCC) [DS:H02318]",,,"46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.",生殖器系疾患,,"(SRXX1) SRY [HSA:6736] [KO:K09266]
 (SRXX3) SOX3 [HSA:6658] [KO:K09267]
 (SRXX4) NR5A1 [HSA:2516] [KO:K08560]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q99.1
 MeSH: D058531
 OMIM: 400045 300833 617480","PMID:20688619
 著者        Kousta E, Papathanasiou A, Skordis N
 タイトル      Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.
 雑誌        Hormones (Athens) 9:218-131 (2010)
 DOI:10.14310/horm.2002.1272
 PMID:23065160
 著者        Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS
 タイトル      Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.
 雑誌        Radiographics 32:1599-618 (2012)
 DOI:10.1148/rg.326125507
 PMID:11750731 (SRXX1)
 著者        Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP
 タイトル      46,XX sex reversal.
 雑誌        Arch Med Res 32:559-66 (2001)
 DOI:10.1016/S0188-4409(01)00322-8
 PMID:21183788 (SRXX3)
 著者        Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P
 タイトル      Identification of SOX3 as an XX male sex reversal gene in mice and humans.
 雑誌        J Clin Invest 121:328-41 (2011)
 DOI:10.1172/JCI42580
 PMID:27490115 (SRXX4)
 著者        Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M
 タイトル      NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
 雑誌        Genet Med 19:367-376 (2017)
 DOI:10.1038/gim.2016.118","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00598"">H00598</a>","46,XX 精巣性分化疾患
 下位グループ    SERKAL 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02317"">H02317</a>]
 皮膚有棘細胞癌と性逆転を伴う掌蹠角化症 (PPK-SCC) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02318"">H02318</a>]","46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.",,"(SRXX1) SRY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6736"">6736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09266"">K09266</a>]
 (SRXX3) SOX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6658"">6658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09267"">K09267</a>]
 (SRXX4) NR5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2516"">2516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08560"">K08560</a>]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q99.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058531"">D058531</a>
 OMIM: <a href=""https://www.omim.org/entry/400045"">400045</a> <a href=""https://www.omim.org/entry/300833"">300833</a> <a href=""https://www.omim.org/entry/617480"">617480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20688619"">20688619</a>
 著者        Kousta E, Papathanasiou A, Skordis N
 タイトル      Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.
 雑誌        Hormones (Athens) 9:218-131 (2010)
 DOI:<a href=""https://doi.org/10.14310/horm.2002.1272"">10.14310/horm.2002.1272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23065160"">23065160</a>
 著者        Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS
 タイトル      Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.
 雑誌        Radiographics 32:1599-618 (2012)
 DOI:<a href=""https://doi.org/10.1148/rg.326125507"">10.1148/rg.326125507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11750731"">11750731</a> (SRXX1)
 著者        Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP
 タイトル      46,XX sex reversal.
 雑誌        Arch Med Res 32:559-66 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0188-4409(01)00322-8"">10.1016/S0188-4409(01)00322-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21183788"">21183788</a> (SRXX3)
 著者        Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P
 タイトル      Identification of SOX3 as an XX male sex reversal gene in mice and humans.
 雑誌        J Clin Invest 121:328-41 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI42580"">10.1172/JCI42580</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27490115"">27490115</a> (SRXX4)
 著者        Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M
 タイトル      NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
 雑誌        Genet Med 19:367-376 (2017)
 DOI:<a href=""https://doi.org/10.1038/gim.2016.118"">10.1038/gim.2016.118</a>"
H00599,"卵巣形成不全;
 46,XX 性腺形成不全症",,,"Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.",生殖系疾患,,"(ODG1) FSHR [HSA:2492] [KO:K04247]
 (ODG2) BMP15 [HSA:9210] [KO:K05498]
 (ODG3) PSMC3IP [HSA:29893] [KO:K06695]
 (ODG4) MCM9 [HSA:254394] [KO:K10738]
 (ODG5) SOHLH1 [HSA:402381] [KO:K22495]
 (ODG6) NUP107 [HSA:57122] [KO:K14301]
 (ODG7) MRPS22 [HSA:56945] [KO:K17401]
 (ODG8) ESR2 [HSA:2100] [KO:K08551]",,,,,,"ICD-11: LB45.1
 ICD-10: Q99.1
 MeSH: D023961
 OMIM: 233300 300510 614324 616185 617690 618078 618117 618187","PMID:18279784
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:10.1016/j.beem.2007.11.001
 PMID:11889179
 著者        Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K
 タイトル      A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
 雑誌        J Clin Endocrinol Metab 87:1151-5 (2002)
 DOI:10.1210/jcem.87.3.8319
 PMID:21963259
 著者        Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E
 タイトル      XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
 雑誌        Am J Hum Genet 89:572-9 (2011)
 DOI:10.1016/j.ajhg.2011.09.006
 PMID:26771056
 著者        Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA
 タイトル      A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.
 雑誌        Clin Genet 89:603-7 (2016)
 DOI:10.1111/cge.12736
 PMID:25774885
 著者        Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR
 タイトル      Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
 雑誌        J Clin Endocrinol Metab 100:E808-14 (2015)
 DOI:10.1210/jc.2015-1150
 PMID:26485283
 著者        Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D
 タイトル      A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
 雑誌        J Clin Invest 125:4295-304 (2015)
 DOI:10.1172/JCI83553
 PMID:29566152
 著者        Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA
 タイトル      Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
 雑誌        Hum Mol Genet 27:1913-1926 (2018)
 DOI:10.1093/hmg/ddy098
 PMID:30113650
 著者        Lang-Muritano M, Sproll P, Wyss S, Kolly A, Hurlimann R, Konrad D, Biason-Lauber A
 タイトル      Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor beta (ESR2).
 雑誌        J Clin Endocrinol Metab 103:3748-3756 (2018)
 DOI:10.1210/jc.2018-00769","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00599"">H00599</a>","卵巣形成不全;
 46,XX 性腺形成不全症","Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.",,"(ODG1) FSHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2492"">2492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04247"">K04247</a>]
 (ODG2) BMP15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9210"">9210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05498"">K05498</a>]
 (ODG3) PSMC3IP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29893"">29893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06695"">K06695</a>]
 (ODG4) MCM9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:254394"">254394</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10738"">K10738</a>]
 (ODG5) SOHLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:402381"">402381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22495"">K22495</a>]
 (ODG6) NUP107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57122"">57122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14301"">K14301</a>]
 (ODG7) MRPS22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56945"">56945</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17401"">K17401</a>]
 (ODG8) ESR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2100"">2100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08551"">K08551</a>]",,,,,,"ICD-11: LB45.1
 ICD-10: Q99.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D023961"">D023961</a>
 OMIM: <a href=""https://www.omim.org/entry/233300"">233300</a> <a href=""https://www.omim.org/entry/300510"">300510</a> <a href=""https://www.omim.org/entry/614324"">614324</a> <a href=""https://www.omim.org/entry/616185"">616185</a> <a href=""https://www.omim.org/entry/617690"">617690</a> <a href=""https://www.omim.org/entry/618078"">618078</a> <a href=""https://www.omim.org/entry/618117"">618117</a> <a href=""https://www.omim.org/entry/618187"">618187</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18279784"">18279784</a>
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2007.11.001"">10.1016/j.beem.2007.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11889179"">11889179</a>
 著者        Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K
 タイトル      A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
 雑誌        J Clin Endocrinol Metab 87:1151-5 (2002)
 DOI:<a href=""https://doi.org/10.1210/jcem.87.3.8319"">10.1210/jcem.87.3.8319</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21963259"">21963259</a>
 著者        Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E
 タイトル      XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
 雑誌        Am J Hum Genet 89:572-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.09.006"">10.1016/j.ajhg.2011.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26771056"">26771056</a>
 著者        Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA
 タイトル      A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.
 雑誌        Clin Genet 89:603-7 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12736"">10.1111/cge.12736</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25774885"">25774885</a>
 著者        Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR
 タイトル      Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
 雑誌        J Clin Endocrinol Metab 100:E808-14 (2015)
 DOI:<a href=""https://doi.org/10.1210/jc.2015-1150"">10.1210/jc.2015-1150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26485283"">26485283</a>
 著者        Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D
 タイトル      A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
 雑誌        J Clin Invest 125:4295-304 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI83553"">10.1172/JCI83553</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29566152"">29566152</a>
 著者        Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA
 タイトル      Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
 雑誌        Hum Mol Genet 27:1913-1926 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy098"">10.1093/hmg/ddy098</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30113650"">30113650</a>
 著者        Lang-Muritano M, Sproll P, Wyss S, Kolly A, Hurlimann R, Konrad D, Biason-Lauber A
 タイトル      Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor beta (ESR2).
 雑誌        J Clin Endocrinol Metab 103:3748-3756 (2018)
 DOI:<a href=""https://doi.org/10.1210/jc.2018-00769"">10.1210/jc.2018-00769</a>"
H00600,"ミュラー管無発生;
 Mayer Rokitansky Kuster Hauser 症候群
 下位グループ    ミュラー管形成不全および高アンドロゲン血症",,,"Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals.",生殖系疾患,,WNT4 [HSA:54361] [KO:K00408],,,,,,"ICD-11: LB44.Y
 ICD-10: Q51.8
 MeSH: C537371
 OMIM: 277000 158330","PMID:16691591
 著者        Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonca BB, Szuhai K, Otto PA
 タイトル      Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
 雑誌        Am J Med Genet A 140:1339-42 (2006)
 DOI:10.1002/ajmg.a.31254
 PMID:15317892
 著者        Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ
 タイトル      A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman.
 雑誌        N Engl J Med 351:792-8 (2004)
 DOI:10.1056/NEJMoa040533","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00600"">H00600</a>","ミュラー管無発生;
 Mayer Rokitansky Kuster Hauser 症候群
 下位グループ    ミュラー管形成不全および高アンドロゲン血症","Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals.",,"WNT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54361"">54361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00408"">K00408</a>]",,,,,,"ICD-11: LB44.Y
 ICD-10: Q51.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537371"">C537371</a>
 OMIM: <a href=""https://www.omim.org/entry/277000"">277000</a> <a href=""https://www.omim.org/entry/158330"">158330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16691591"">16691591</a>
 著者        Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonca BB, Szuhai K, Otto PA
 タイトル      Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
 雑誌        Am J Med Genet A 140:1339-42 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31254"">10.1002/ajmg.a.31254</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15317892"">15317892</a>
 著者        Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ
 タイトル      A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman.
 雑誌        N Engl J Med 351:792-8 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa040533"">10.1056/NEJMoa040533</a>"
H00601,ハッチンソン・ギルフォード早老症候群,,,"Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average age of 13.5 years. Mutations in lamin A/C, an important structural component of the nuclear envelope, have been reported.",先天性代謝異常症,,LMNA [HSA:4000] [KO:K12641],,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 MeSH: D011371
 OMIM: 176670","PMID:21622261
 著者        Gonzalez JM, Pla D, Perez-Sala D, Andres V
 タイトル      A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy.
 雑誌        Front Biosci (Schol Ed) 3:1133-46 (2011)
 DOI:10.2741/216
 PMID:15479179
 著者        Pollex RL, Hegele RA
 タイトル      Hutchinson-Gilford progeria syndrome.
 雑誌        Clin Genet 66:375-81 (2004)
 DOI:10.1111/j.1399-0004.2004.00315.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00601"">H00601</a>",ハッチンソン・ギルフォード早老症候群,"Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average age of 13.5 years. Mutations in lamin A/C, an important structural component of the nuclear envelope, have been reported.",,"LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]",,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011371"">D011371</a>
 OMIM: <a href=""https://www.omim.org/entry/176670"">176670</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21622261"">21622261</a>
 著者        Gonzalez JM, Pla D, Perez-Sala D, Andres V
 タイトル      A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy.
 雑誌        Front Biosci (Schol Ed) 3:1133-46 (2011)
 DOI:<a href=""https://doi.org/10.2741/216"">10.2741/216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15479179"">15479179</a>
 著者        Pollex RL, Hegele RA
 タイトル      Hutchinson-Gilford progeria syndrome.
 雑誌        Clin Genet 66:375-81 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2004.00315.x"">10.1111/j.1399-0004.2004.00315.x</a>"
H00602,"糖質コルチコイド反応性アルドステロン症;
 家族性高アルドステロン症 I 型
 上位グループ    原発性アルドステロン症 [DS:H01603]",,,"Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described.",内分泌代謝疾患,nt06310  CRH-ACTH-cortisol signaling,"CYP11B1 [HSA:1584] [KO:K00497]
 CYP11B2 [HSA:1585] [KO:K07433]",,,,,,"ICD-11: 5A72.0
 ICD-10: E26.0 I15.2
 MeSH: C563177
 OMIM: 103900","PMID:21404100
 著者        Simonetti GD, Mohaupt MG, Bianchetti MG
 タイトル      Monogenic forms of hypertension.
 雑誌        Eur J Pediatr 171:1433-9 (2012)
 DOI:10.1007/s00431-011-1440-7
 PMID:17496764
 著者        Williams SS
 タイトル      Advances in genetic hypertension.
 雑誌        Curr Opin Pediatr 19:192-8 (2007)
 DOI:10.1097/MOP.0b013e32801e217c
 PMID:17262198
 著者        Rosskopf D, Schurks M, Rimmbach C, Schafers R
 タイトル      Genetics of arterial hypertension and hypotension.
 雑誌        Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007)
 DOI:10.1007/s00210-007-0133-2
 PMID:15761539
 著者        McMahon GT, Dluhy RG
 タイトル      Glucocorticoid-remediable aldosteronism.
 雑誌        Arq Bras Endocrinol Metabol 48:682-6 (2004)
 DOI:10.1590/S0004-27302004000500014
 PMID:11004715
 著者        Torpy DJ, Stratakis CA, Chrousos GP
 タイトル      Familial hyperaldosteronism.
 雑誌        Braz J Med Biol Res 33:1149-55 (2000)
 DOI:10.1590/S0100-879X2000001000004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00602"">H00602</a>","糖質コルチコイド反応性アルドステロン症;
 家族性高アルドステロン症 I 型
 上位グループ    原発性アルドステロン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01603"">H01603</a>]","Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described.","<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","CYP11B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1584"">1584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00497"">K00497</a>]
 CYP11B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1585"">1585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07433"">K07433</a>]",,,,,,"ICD-11: 5A72.0
 ICD-10: E26.0 I15.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563177"">C563177</a>
 OMIM: <a href=""https://www.omim.org/entry/103900"">103900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21404100"">21404100</a>
 著者        Simonetti GD, Mohaupt MG, Bianchetti MG
 タイトル      Monogenic forms of hypertension.
 雑誌        Eur J Pediatr 171:1433-9 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1440-7"">10.1007/s00431-011-1440-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17496764"">17496764</a>
 著者        Williams SS
 タイトル      Advances in genetic hypertension.
 雑誌        Curr Opin Pediatr 19:192-8 (2007)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e32801e217c"">10.1097/MOP.0b013e32801e217c</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17262198"">17262198</a>
 著者        Rosskopf D, Schurks M, Rimmbach C, Schafers R
 タイトル      Genetics of arterial hypertension and hypotension.
 雑誌        Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00210-007-0133-2"">10.1007/s00210-007-0133-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15761539"">15761539</a>
 著者        McMahon GT, Dluhy RG
 タイトル      Glucocorticoid-remediable aldosteronism.
 雑誌        Arq Bras Endocrinol Metabol 48:682-6 (2004)
 DOI:<a href=""https://doi.org/10.1590/S0004-27302004000500014"">10.1590/S0004-27302004000500014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11004715"">11004715</a>
 著者        Torpy DJ, Stratakis CA, Chrousos GP
 タイトル      Familial hyperaldosteronism.
 雑誌        Braz J Med Biol Res 33:1149-55 (2000)
 DOI:<a href=""https://doi.org/10.1590/S0100-879X2000001000004"">10.1590/S0100-879X2000001000004</a>"
H00603,妊娠誘発性高血圧症,,,"""Hypertension exacerbated by pregnancy"" is a syndrome similar to Apparent mineralocorticoid excess (AME) with autosomal dominant early-onset hypertension. The affected individuals have a gain of function mutation in the human mineralocorticoid receptor (MR), resulting in constitutively stimulated Na reabsorption. Hypertension is present in nonpregnant patients and may be severe, but the characteristic feature is marked worsening during pregnancy. The proposed explanation is that the mutation renders the receptor sensitive to nonmineralocorticoid steroids such as progesterone, the level of which rises 100-fold during pregnancy.",循環器疾患,,NR3C2 [HSA:4306] [KO:K08555],,,,"グルタチオン [DR:D00014]
 ヒドララジン塩酸塩 [DR:D01302]",,"ICD-11: BA04
 ICD-10: I15.8
 OMIM: 605115","PMID:17647025
 著者        Vehaskari VM
 タイトル      Heritable forms of hypertension.
 雑誌        Pediatr Nephrol 24:1929-37 (2009)
 DOI:10.1007/s00467-007-0537-8
 PMID:17262198
 著者        Rosskopf D, Schurks M, Rimmbach C, Schafers R
 タイトル      Genetics of arterial hypertension and hypotension.
 雑誌        Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007)
 DOI:10.1007/s00210-007-0133-2
 PMID:12538613
 著者        Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A
 タイトル      The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related.
 雑誌        Endocrinology 144:528-33 (2003)
 DOI:10.1210/en.2002-220708","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00603"">H00603</a>",妊娠誘発性高血圧症,"""Hypertension exacerbated by pregnancy"" is a syndrome similar to Apparent mineralocorticoid excess (AME) with autosomal dominant early-onset hypertension. The affected individuals have a gain of function mutation in the human mineralocorticoid receptor (MR), resulting in constitutively stimulated Na reabsorption. Hypertension is present in nonpregnant patients and may be severe, but the characteristic feature is marked worsening during pregnancy. The proposed explanation is that the mutation renders the receptor sensitive to nonmineralocorticoid steroids such as progesterone, the level of which rises 100-fold during pregnancy.",,"NR3C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4306"">4306</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08555"">K08555</a>]",,,,"グルタチオン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00014"">D00014</a>]
 ヒドララジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01302"">D01302</a>]",,"ICD-11: BA04
 ICD-10: I15.8
 OMIM: <a href=""https://www.omim.org/entry/605115"">605115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17647025"">17647025</a>
 著者        Vehaskari VM
 タイトル      Heritable forms of hypertension.
 雑誌        Pediatr Nephrol 24:1929-37 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00467-007-0537-8"">10.1007/s00467-007-0537-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17262198"">17262198</a>
 著者        Rosskopf D, Schurks M, Rimmbach C, Schafers R
 タイトル      Genetics of arterial hypertension and hypotension.
 雑誌        Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00210-007-0133-2"">10.1007/s00210-007-0133-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12538613"">12538613</a>
 著者        Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A
 タイトル      The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related.
 雑誌        Endocrinology 144:528-33 (2003)
 DOI:<a href=""https://doi.org/10.1210/en.2002-220708"">10.1210/en.2002-220708</a>"
H00604,遺伝性難聴 (常染色体優性),,,"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. Autosomal-dominant forms of deafness are usually post-lingual and progressive. Dominant mutations may be consistent with initial function and subsequent hearing loss owing to accumulation of pathology.",神経系疾患,,"(DFNA1) DIAPH1 [HSA:1729] [KO:K05740]
 (DFNA2A) KCNQ4 [HSA:9132] [KO:K04929]
 (DFNA2B) GJB3 [HSA:2707] [KO:K07622]
 (DFNA3A) GJB2 [HSA:2706] [KO:K07621]
 (DFNA3B) GJB6 [HSA:10804] [KO:K07625]
 (DFNA4A) MYH14 [HSA:79784] [KO:K10352]
 (DFNA4B) CEACAM16 [HSA:388551] [KO:K06499]
 (DFNA5) GSDME [HSA:1687] [KO:K22146]
 (DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020]
 (DFNA7) LMX1A [HSA:4009] [KO:K09371]
 (DFNA8/12) TECTA [HSA:7007] [KO:K18273]
 (DFNA9) COCH [HSA:1690] [KO:K23574]
 (DFNA10) EYA4 [HSA:2070] [KO:K17622]
 (DFNA11) MYO7A [HSA:4647] [KO:K10359]
 (DFNA13) COL11A2 [HSA:1302] [KO:K19721]
 (DFNA15) POU4F3 [HSA:5459] [KO:K09366]
 (DFNA17) MYH9 [HSA:4627] [KO:K10352]
 (DFNA20/26) ACTG1 [HSA:71] [KO:K05692]
 (DFNA22) MYO6 [HSA:4646] [KO:K10358]
 (DFNA23) SIX1 [HSA:6495] [KO:K15614]
 (DFNA25) SLC17A8 [HSA:246213] [KO:K12302]
 (DFNA27) REST [HSA:5978] [KO:K09222]
 (DFNA28) GRHL2 [HSA:79977] [KO:K09275]
 (DFNA34) NLRP3 [HSA:114548] [KO:K12800]
 (DFNA36) TMC1 [HSA:117531] [KO:K21988]
 (DFNA37) COL11A1 [HSA:1301] [KO:K19721]
 (DFNA39) DSPP [HSA:1834] [KO:K23573]
 (DFNA40) CRYM [HSA:1428] [KO:K18258]
 (DFNA41) P2RX2 [HSA:22953] [KO:K05216]
 (DFNA44) CCDC50 [HSA:152137] [KO:K25949]
 (DFNA50) MIR96 [HSA:407053] [KO:K17114]
 (DFNA56) TNC [HSA:3371] [KO:K06252]
 (DFNA64) DIABLO [HSA:56616] [KO:K10522]
 (DFNA65) TBC1D24 [HSA:57465] [KO:K21841]
 (DFNA66) CD164 [HSA:8763] [KO:K06546]
 (DFNA67) OSBPL2 [HSA:9885] [KO:K20174]
 (DFNA68) HOMER2 [HSA:9455] [KO:K15010]
 (DFNA69) KITLG [HSA:4254] [KO:K05461]
 (DFNA70) MCM2 [HSA:4171] [KO:K02540]
 (DFNA71) DMXL2 [HSA:23312] [KO:K24155]
 (DFNA72) SLC44A4 [HSA:80736] [KO:K15377]
 (DFNA73) PTPRQ [HSA:374462] [KO:K16910]
 (DFNA74) PDE1C [HSA:5137] [KO:K13755]
 (DFNA75) TRRAP [HSA:8295] [KO:K08874]
 (DFNA76) PLS1 [HSA:5357] [KO:K17275]
 (DFNA77) ABCC1 [HSA:4363] [KO:K05665]
 (DFNA78) SLC12A2 [HSA:6558] [KO:K10951]
 (DFNA79) SCD5 [HSA:79966] [KO:K00507]
 (DFNA80) GREB1L [HSA:80000]
 (DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
 (DFNA82) ATP2B2 [HSA:491] [KO:K05850]
 (DFNA83) MAP1B [HSA:4131] [KO:K10429]
 (DFNA84) ATP11A [HSA:23250] [KO:K01530]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: C565121 C567441 C567214 C567277 C567215 C563460 C563410 C563421 C563321 C563335 C563354 C563353 C563295 C566612 C563421 C566545 C565832 C535507 C565267 C565754 C564634 C538197 C565357 C565239 C565319 C563890 C564706 C563888 C564675 C564272 C564246 C564399 C563885 C564322 C564250 C564348 C566495 C567216
 OMIM: 124900 600101 612644 601544 612643 600652 614614 600994 600965 601412 601543 601369 601316 601317 601868 602459 603622 604717 606346 605192 605583 612431 608641 606705 605594 616357 608224 607453 613074 615629 614152 616044 616969 616340 616707 616697 616968 617605 617606 617663 618140 618778 618787 618915 617772 618533 619081 619086 619274 619500 619804 619808 619810","PMID:12123480
 著者        Petersen MB
 タイトル      Non-syndromic autosomal-dominant deafness.
 雑誌        Clin Genet 62:1-13 (2002)
 DOI:10.1034/j.1399-0004.2002.620101.x
 PMID:16446920
 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
 DOI:10.1590/S0034-72992005000200016
 PMID:12324385
 著者        Bitner-Glindzicz M
 タイトル      Hereditary deafness and phenotyping in humans.
 雑誌        Br Med Bull 63:73-94 (2002)
 DOI:10.1093/bmb/63.1.73
 PMID:12014894
 著者        Hone SW, Smith RJ
 タイトル      Genetics of hearing impairment.
 雑誌        Semin Neonatol 6:531-41 (2001)
 DOI:10.1053/siny.2001.0094
 PMID:27808407 (DIAPH1)
 著者        Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ
 タイトル      Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
 雑誌        Clin Genet 91:892-901 (2017)
 DOI:10.1111/cge.12915
 PMID:21242547 (KCNQ4)
 著者        Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
 タイトル      Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
 雑誌        Arch Otolaryngol Head Neck Surg 137:54-9 (2011)
 DOI:10.1001/archoto.2010.234
 PMID:9843210 (GJB3)
 著者        Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ
 タイトル      Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
 雑誌        Nat Genet 20:370-3 (1998)
 DOI:10.1038/3845
 PMID:9856479 (GJB2)
 著者        Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ
 タイトル      Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
 雑誌        Hum Genet 103:393-9 (1998)
 DOI:10.1007/s004390050839
 PMID:10471490 (GJB6)
 著者        Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P
 タイトル      Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
 雑誌        Nat Genet 23:16-8 (1999)
 DOI:10.1038/12612
 PMID:15015131 (MYH14)
 著者        Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A
 タイトル      Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
 雑誌        Am J Hum Genet 74:770-6 (2004)
 DOI:10.1086/383285
 PMID:25589040 (CEACAM16)
 著者        Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y
 タイトル      Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
 雑誌        J Hum Genet 60:119-126 (2015)
 DOI:10.1038/jhg.2014.114
 PMID:29266521 (GSDME)
 著者        Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ
 タイトル      Exonic mutations and exon skipping: Lessons learned from DFNA5.
 雑誌        Hum Mutat 39:433-440 (2018)
 DOI:10.1002/humu.23384
 PMID:11709538 (WFS1)
 著者        Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC
 タイトル      Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
 雑誌        Hum Mol Genet 10:2509-14 (2001)
 DOI:10.1093/hmg/10.22.2509
 PMID:29754270 (LMX1A)
 著者        Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H
 タイトル      Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
 雑誌        Hum Genet 137:389-400 (2018)
 DOI:10.1007/s00439-018-1880-5
 PMID:9590290 (TECTA)
 著者        Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G
 タイトル      Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
 雑誌        Nat Genet 19:60-2 (1998)
 DOI:10.1038/ng0598-60
 PMID:8817345 (COCH)
 著者        Manolis EN, Yandavi N, Nadol JB Jr, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG
 タイトル      A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
 雑誌        Hum Mol Genet 5:1047-50 (1996)
 DOI:10.1093/hmg/5.7.1047
 PMID:11159937 (EYA4)
 著者        Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ
 タイトル      Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
 雑誌        Hum Mol Genet 10:195-200 (2001)
 DOI:10.1093/hmg/10.3.195
 PMID:9354784 (MYO7A)
 著者        Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD
 タイトル      Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
 雑誌        Nat Genet 17:268-9 (1997)
 DOI:10.1038/ng1197-268
 PMID:10581026 (COL11A2)
 著者        McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
 タイトル      Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
 雑誌        Nat Genet 23:413-9 (1999)
 DOI:10.1038/70516
 PMID:24260153 (POU4F3)
 著者        Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
 タイトル      SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
 雑誌        PLoS One 8:e79063 (2013)
 DOI:10.1371/journal.pone.0079063
 PMID:24890873 (MYH9)
 著者        Verver E, Pecci A, De Rocco D, Ryhanen S, Barozzi S, Kunst H, Topsakal V, Savoia A
 タイトル      R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
 雑誌        Clin Genet 88:85-9 (2015)
 DOI:10.1111/cge.12438
 PMID:13680526 (ACTG1)
 著者        Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
 タイトル      Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
 雑誌        Am J Hum Genet 73:1082-91 (2003)
 DOI:10.1086/379286
 PMID:11468689 (MYO6)
 著者        Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P
 タイトル      MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
 雑誌        Am J Hum Genet 69:635-40 (2001)
 DOI:10.1086/323156
 PMID:15141091 (SIX1)
 著者        Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F
 タイトル      SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
 雑誌        Proc Natl Acad Sci U S A 101:8090-5 (2004)
 DOI:10.1073/pnas.0308475101
 PMID:18674745 (SLC17A8)
 著者        Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL
 タイトル      Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
 雑誌        Am J Hum Genet 83:278-92 (2008)
 DOI:10.1016/j.ajhg.2008.07.008
 PMID:29961578 (REST)
 著者        Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Banfi B
 タイトル      Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
 雑誌        Cell 174:536-548.e21 (2018)
 DOI:10.1016/j.cell.2018.06.004
 PMID:21610158 (GRHL2)
 著者        Han Y, Mu Y, Li X, Xu P, Tong J, Liu Z, Ma T, Zeng G, Yang S, Du J, Meng A
 タイトル      Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.
 雑誌        Hum Mol Genet 20:3213-26 (2011)
 DOI:10.1093/hmg/ddr234
 PMID:28847925 (NLRP3)
 著者        Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ
 タイトル      NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
 雑誌        Proc Natl Acad Sci U S A 114:E7766-E7775 (2017)
 DOI:10.1073/pnas.1702946114
 PMID:18616530 (TMC1)
 著者        Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G
 タイトル      Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
 雑誌        Clin Genet 74:223-32 (2008)
 DOI:10.1111/j.1399-0004.2008.01053.x
 PMID:30245514 (COL11A1)
 著者        Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
 タイトル      Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
 雑誌        Genet Med 21:948-954 (2019)
 DOI:10.1038/s41436-018-0285-0
 PMID:11175790 (DSPP)
 著者        Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X
 タイトル      Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
 雑誌        Nat Genet 27:201-4 (2001)
 DOI:10.1038/84848
 PMID:12471561 (CRYM)
 著者        Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y
 タイトル      Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.
 雑誌        Am J Hum Genet 72:73-82 (2003)
 DOI:10.1086/345398
 PMID:24211385 (P2RX2)
 著者        Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
 タイトル      A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.
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 PMID:17503326 (CCDC50)
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 タイトル      A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
 雑誌        Am J Hum Genet 80:1076-89 (2007)
 DOI:10.1086/518311
 PMID:22038834 (MIR96)
 著者        Solda G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S
 タイトル      A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.
 雑誌        Hum Mol Genet 21:577-85 (2012)
 DOI:10.1093/hmg/ddr493
 PMID:23936043 (TNC)
 著者        Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
 タイトル      Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
 雑誌        PLoS One 8:e69549 (2013)
 DOI:10.1371/journal.pone.0069549
 PMID:21722859 (DIABLO)
 著者        Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H
 タイトル      Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
 雑誌        Am J Hum Genet 89:56-66 (2011)
 DOI:10.1016/j.ajhg.2011.05.027
 PMID:24729539 (TBC1D24)
 著者        Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
 タイトル      TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
 雑誌        Hum Mutat 35:819-23 (2014)
 DOI:10.1002/humu.22557
 PMID:26197441 (CD164)
 著者        Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Cruger DG, Oostrik J, Kremer H, Tommerup N, Frodin M, Steel KP, Tranebjaerg L, Borglum AD
 タイトル      A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
 雑誌        PLoS Genet 11:e1005386 (2015)
 DOI:10.1371/journal.pgen.1005386
 PMID:25759012 (OSBPL2)
 著者        Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nurnberg G, Nurnberg P, Steel KP, Knipper M, Bolz HJ
 タイトル      OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
 雑誌        Orphanet J Rare Dis 10:15 (2015)
 DOI:10.1186/s13023-015-0238-5
 PMID:25816005 (HOMER2)
 著者        Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ
 タイトル      HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
 雑誌        PLoS Genet 11:e1005137 (2015)
 DOI:10.1371/journal.pgen.1005137
 PMID:26522471 (KITLG)
 著者        Zazo Seco C, Serrao de Castro L, van Nierop JW, Morin M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vasquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H
 タイトル      Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
 雑誌        Am J Hum Genet 97:647-60 (2015)
 DOI:10.1016/j.ajhg.2015.09.011
 PMID:26196677 (MCM2)
 著者        Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y
 タイトル      Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.
 雑誌        PLoS One 10:e0133522 (2015)
 DOI:10.1371/journal.pone.0133522
 PMID:27657680 (DMXL2)
 著者        Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T, Wu H
 タイトル      A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
 雑誌        Genet Med 19:553-558 (2017)
 DOI:10.1038/gim.2016.142
 PMID:28013291 (SLC44A4)
 著者        Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D
 タイトル      SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
 雑誌        Hum Mol Genet 26:383-394 (2017)
 DOI:10.1093/hmg/ddw394
 PMID:29309402 (PTPRQ)
 著者        Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, Toliat M, Nurnberg P, Murbe D, Bolz HJ
 タイトル      A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
 雑誌        Genet Med 20:614-621 (2018)
 DOI:10.1038/gim.2017.155
 PMID:29860631 (PDE1C)
 著者        Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X
 タイトル      A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
 雑誌        Hum Genet 137:437-446 (2018)
 DOI:10.1007/s00439-018-1895-y
 PMID:31231791 (TRRAP)
 著者        Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D
 タイトル      Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.
 雑誌        Clin Genet 96:300-308 (2019)
 DOI:10.1111/cge.13590
 PMID:30872814 (PLS1)
 著者        Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM
 タイトル      Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
 雑誌        Eur J Hum Genet 27:869-878 (2019)
 DOI:10.1038/s41431-019-0372-y
 PMID:31273342 (ABCC1)
 著者        Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y
 タイトル      Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
 雑誌        Genet Med 21:2744-2754 (2019)
 DOI:10.1038/s41436-019-0594-y
 PMID:32294086 (SLC12A2)
 著者        Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Kubo M, Matsunaga T
 タイトル      Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
 雑誌        PLoS Genet 16:e1008643 (2020)
 DOI:10.1371/journal.pgen.1008643
 PMID:31972369 (SCD5)
 著者        Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y
 タイトル      Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
 雑誌        Eur J Med Genet 63:103855 (2020)
 DOI:10.1016/j.ejmg.2020.103855
 PMID:32585897 (GREB1L)
 著者        Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM
 タイトル      Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
 雑誌        Genes (Basel) 11:E687 (2020)
 DOI:10.3390/genes11060687
 PMID:29713870 (ELMOD3)
 著者        Li W, Sun J, Ling J, Li J, He C, Liu Y, Chen H, Men M, Niu Z, Deng Y, Li M, Li T, Wen J, Sang S, Li H, Wan Z, Richard EM, Chapagain P, Yan D, Liu XZ, Mei L, Feng Y
 タイトル      ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
 雑誌        Hum Genet 137:329-342 (2018)
 DOI:10.1007/s00439-018-1885-0
 PMID:30535804 (ATP2B2)
 著者        Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H
 タイトル      De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
 雑誌        Hum Genet 138:61-72 (2019)
 DOI:10.1007/s00439-018-1965-1
 PMID:33268592 (MAP1B)
 著者        Cui L, Zheng J, Zhao Q, Chen JR, Liu H, Peng G, Wu Y, Chen C, He Q, Shi H, Yin S, Friedman RA, Chen Y, Guan MX
 タイトル      Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
 雑誌        JCI Insight 5:136046 (2020)
 DOI:10.1172/jci.insight.136046
 PMID:35278131 (ATP11A)
 著者        Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
 タイトル      Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
 雑誌        Hum Genet 141:431-444 (2022)
 DOI:10.1007/s00439-022-02444-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00604"">H00604</a>",遺伝性難聴 (常染色体優性),"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. Autosomal-dominant forms of deafness are usually post-lingual and progressive. Dominant mutations may be consistent with initial function and subsequent hearing loss owing to accumulation of pathology.",,"(DFNA1) DIAPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1729"">1729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05740"">K05740</a>]
 (DFNA2A) KCNQ4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9132"">9132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04929"">K04929</a>]
 (DFNA2B) GJB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2707"">2707</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07622"">K07622</a>]
 (DFNA3A) GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]
 (DFNA3B) GJB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10804"">10804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07625"">K07625</a>]
 (DFNA4A) MYH14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79784"">79784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]
 (DFNA4B) CEACAM16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388551"">388551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06499"">K06499</a>]
 (DFNA5) GSDME [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1687"">1687</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22146"">K22146</a>]
 (DFNA6/14/38) WFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7466"">7466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14020"">K14020</a>]
 (DFNA7) LMX1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4009"">4009</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09371"">K09371</a>]
 (DFNA8/12) TECTA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7007"">7007</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18273"">K18273</a>]
 (DFNA9) COCH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1690"">1690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23574"">K23574</a>]
 (DFNA10) EYA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2070"">2070</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17622"">K17622</a>]
 (DFNA11) MYO7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4647"">4647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10359"">K10359</a>]
 (DFNA13) COL11A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (DFNA15) POU4F3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5459"">5459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09366"">K09366</a>]
 (DFNA17) MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]
 (DFNA20/26) ACTG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:71"">71</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]
 (DFNA22) MYO6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4646"">4646</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10358"">K10358</a>]
 (DFNA23) SIX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6495"">6495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15614"">K15614</a>]
 (DFNA25) SLC17A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:246213"">246213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12302"">K12302</a>]
 (DFNA27) REST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5978"">5978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09222"">K09222</a>]
 (DFNA28) GRHL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79977"">79977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09275"">K09275</a>]
 (DFNA34) NLRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]
 (DFNA36) TMC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117531"">117531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21988"">K21988</a>]
 (DFNA37) COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (DFNA39) DSPP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1834"">1834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23573"">K23573</a>]
 (DFNA40) CRYM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1428"">1428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18258"">K18258</a>]
 (DFNA41) P2RX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22953"">22953</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05216"">K05216</a>]
 (DFNA44) CCDC50 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:152137"">152137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25949"">K25949</a>]
 (DFNA50) MIR96 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:407053"">407053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17114"">K17114</a>]
 (DFNA56) TNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3371"">3371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06252"">K06252</a>]
 (DFNA64) DIABLO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56616"">56616</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10522"">K10522</a>]
 (DFNA65) TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]
 (DFNA66) CD164 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8763"">8763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06546"">K06546</a>]
 (DFNA67) OSBPL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9885"">9885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20174"">K20174</a>]
 (DFNA68) HOMER2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9455"">9455</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15010"">K15010</a>]
 (DFNA69) KITLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4254"">4254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05461"">K05461</a>]
 (DFNA70) MCM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4171"">4171</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02540"">K02540</a>]
 (DFNA71) DMXL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23312"">23312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24155"">K24155</a>]
 (DFNA72) SLC44A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80736"">80736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15377"">K15377</a>]
 (DFNA73) PTPRQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374462"">374462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16910"">K16910</a>]
 (DFNA74) PDE1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5137"">5137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13755"">K13755</a>]
 (DFNA75) TRRAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8295"">8295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08874"">K08874</a>]
 (DFNA76) PLS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5357"">5357</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17275"">K17275</a>]
 (DFNA77) ABCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4363"">4363</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05665"">K05665</a>]
 (DFNA78) SLC12A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6558"">6558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10951"">K10951</a>]
 (DFNA79) SCD5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79966"">79966</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00507"">K00507</a>]
 (DFNA80) GREB1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80000"">80000</a>]
 (DFNA81) ELMOD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84173"">84173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23538"">K23538</a>]
 (DFNA82) ATP2B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:491"">491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05850"">K05850</a>]
 (DFNA83) MAP1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4131"">4131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10429"">K10429</a>]
 (DFNA84) ATP11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23250"">23250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01530"">K01530</a>]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565121"">C565121</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567441"">C567441</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567214"">C567214</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567277"">C567277</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567215"">C567215</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563460"">C563460</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563410"">C563410</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563421"">C563421</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563321"">C563321</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563335"">C563335</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563354"">C563354</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563353"">C563353</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563295"">C563295</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566612"">C566612</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563421"">C563421</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566545"">C566545</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565832"">C565832</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535507"">C535507</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565267"">C565267</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565754"">C565754</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564634"">C564634</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538197"">C538197</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565357"">C565357</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565239"">C565239</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565319"">C565319</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563890"">C563890</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564706"">C564706</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563888"">C563888</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564675"">C564675</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564272"">C564272</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564246"">C564246</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564399"">C564399</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563885"">C563885</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564322"">C564322</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564250"">C564250</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564348"">C564348</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566495"">C566495</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567216"">C567216</a>
 OMIM: <a href=""https://www.omim.org/entry/124900"">124900</a> <a href=""https://www.omim.org/entry/600101"">600101</a> <a href=""https://www.omim.org/entry/612644"">612644</a> <a href=""https://www.omim.org/entry/601544"">601544</a> <a href=""https://www.omim.org/entry/612643"">612643</a> <a href=""https://www.omim.org/entry/600652"">600652</a> <a href=""https://www.omim.org/entry/614614"">614614</a> <a href=""https://www.omim.org/entry/600994"">600994</a> <a href=""https://www.omim.org/entry/600965"">600965</a> <a href=""https://www.omim.org/entry/601412"">601412</a> <a href=""https://www.omim.org/entry/601543"">601543</a> <a href=""https://www.omim.org/entry/601369"">601369</a> <a href=""https://www.omim.org/entry/601316"">601316</a> <a href=""https://www.omim.org/entry/601317"">601317</a> <a href=""https://www.omim.org/entry/601868"">601868</a> <a href=""https://www.omim.org/entry/602459"">602459</a> <a href=""https://www.omim.org/entry/603622"">603622</a> <a href=""https://www.omim.org/entry/604717"">604717</a> <a href=""https://www.omim.org/entry/606346"">606346</a> <a href=""https://www.omim.org/entry/605192"">605192</a> <a href=""https://www.omim.org/entry/605583"">605583</a> <a href=""https://www.omim.org/entry/612431"">612431</a> <a href=""https://www.omim.org/entry/608641"">608641</a> <a href=""https://www.omim.org/entry/606705"">606705</a> <a href=""https://www.omim.org/entry/605594"">605594</a> <a href=""https://www.omim.org/entry/616357"">616357</a> <a href=""https://www.omim.org/entry/608224"">608224</a> <a href=""https://www.omim.org/entry/607453"">607453</a> <a href=""https://www.omim.org/entry/613074"">613074</a> <a href=""https://www.omim.org/entry/615629"">615629</a> <a href=""https://www.omim.org/entry/614152"">614152</a> <a href=""https://www.omim.org/entry/616044"">616044</a> <a href=""https://www.omim.org/entry/616969"">616969</a> <a href=""https://www.omim.org/entry/616340"">616340</a> <a href=""https://www.omim.org/entry/616707"">616707</a> <a href=""https://www.omim.org/entry/616697"">616697</a> <a href=""https://www.omim.org/entry/616968"">616968</a> <a href=""https://www.omim.org/entry/617605"">617605</a> <a href=""https://www.omim.org/entry/617606"">617606</a> <a href=""https://www.omim.org/entry/617663"">617663</a> <a href=""https://www.omim.org/entry/618140"">618140</a> <a href=""https://www.omim.org/entry/618778"">618778</a> <a href=""https://www.omim.org/entry/618787"">618787</a> <a href=""https://www.omim.org/entry/618915"">618915</a> <a href=""https://www.omim.org/entry/617772"">617772</a> <a href=""https://www.omim.org/entry/618533"">618533</a> <a href=""https://www.omim.org/entry/619081"">619081</a> <a href=""https://www.omim.org/entry/619086"">619086</a> <a href=""https://www.omim.org/entry/619274"">619274</a> <a href=""https://www.omim.org/entry/619500"">619500</a> <a href=""https://www.omim.org/entry/619804"">619804</a> <a href=""https://www.omim.org/entry/619808"">619808</a> <a href=""https://www.omim.org/entry/619810"">619810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12123480"">12123480</a>
 著者        Petersen MB
 タイトル      Non-syndromic autosomal-dominant deafness.
 雑誌        Clin Genet 62:1-13 (2002)
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 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
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 著者        Bitner-Glindzicz M
 タイトル      Hereditary deafness and phenotyping in humans.
 雑誌        Br Med Bull 63:73-94 (2002)
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 著者        Hone SW, Smith RJ
 タイトル      Genetics of hearing impairment.
 雑誌        Semin Neonatol 6:531-41 (2001)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27808407"">27808407</a> (DIAPH1)
 著者        Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ
 タイトル      Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
 雑誌        Clin Genet 91:892-901 (2017)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21242547"">21242547</a> (KCNQ4)
 著者        Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM
 タイトル      Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
 雑誌        Arch Otolaryngol Head Neck Surg 137:54-9 (2011)
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 著者        Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ
 タイトル      Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
 雑誌        Nat Genet 20:370-3 (1998)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9856479"">9856479</a> (GJB2)
 著者        Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ
 タイトル      Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
 雑誌        Hum Genet 103:393-9 (1998)
 DOI:<a href=""https://doi.org/10.1007/s004390050839"">10.1007/s004390050839</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10471490"">10471490</a> (GJB6)
 著者        Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P
 タイトル      Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
 雑誌        Nat Genet 23:16-8 (1999)
 DOI:<a href=""https://doi.org/10.1038/12612"">10.1038/12612</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15015131"">15015131</a> (MYH14)
 著者        Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A
 タイトル      Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
 雑誌        Am J Hum Genet 74:770-6 (2004)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25589040"">25589040</a> (CEACAM16)
 著者        Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y
 タイトル      Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
 雑誌        J Hum Genet 60:119-126 (2015)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29266521"">29266521</a> (GSDME)
 著者        Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ
 タイトル      Exonic mutations and exon skipping: Lessons learned from DFNA5.
 雑誌        Hum Mutat 39:433-440 (2018)
 DOI:<a href=""https://doi.org/10.1002/humu.23384"">10.1002/humu.23384</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11709538"">11709538</a> (WFS1)
 著者        Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC
 タイトル      Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
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 DOI:<a href=""https://doi.org/10.1093/hmg/10.22.2509"">10.1093/hmg/10.22.2509</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29754270"">29754270</a> (LMX1A)
 著者        Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H
 タイトル      Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
 雑誌        Hum Genet 137:389-400 (2018)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9590290"">9590290</a> (TECTA)
 著者        Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G
 タイトル      Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8817345"">8817345</a> (COCH)
 著者        Manolis EN, Yandavi N, Nadol JB Jr, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG
 タイトル      A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
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 DOI:<a href=""https://doi.org/10.1093/hmg/5.7.1047"">10.1093/hmg/5.7.1047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11159937"">11159937</a> (EYA4)
 著者        Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ
 タイトル      Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
 雑誌        Hum Mol Genet 10:195-200 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.3.195"">10.1093/hmg/10.3.195</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9354784"">9354784</a> (MYO7A)
 著者        Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD
 タイトル      Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10581026"">10581026</a> (COL11A2)
 著者        McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
 タイトル      Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
 雑誌        Nat Genet 23:413-9 (1999)
 DOI:<a href=""https://doi.org/10.1038/70516"">10.1038/70516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24260153"">24260153</a> (POU4F3)
 著者        Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
 タイトル      SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24890873"">24890873</a> (MYH9)
 著者        Verver E, Pecci A, De Rocco D, Ryhanen S, Barozzi S, Kunst H, Topsakal V, Savoia A
 タイトル      R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13680526"">13680526</a> (ACTG1)
 著者        Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
 タイトル      Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
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 DOI:<a href=""https://doi.org/10.1086/379286"">10.1086/379286</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11468689"">11468689</a> (MYO6)
 著者        Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P
 タイトル      MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
 雑誌        Am J Hum Genet 69:635-40 (2001)
 DOI:<a href=""https://doi.org/10.1086/323156"">10.1086/323156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15141091"">15141091</a> (SIX1)
 著者        Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F
 タイトル      SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
 雑誌        Proc Natl Acad Sci U S A 101:8090-5 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0308475101"">10.1073/pnas.0308475101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18674745"">18674745</a> (SLC17A8)
 著者        Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL
 タイトル      Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
 雑誌        Am J Hum Genet 83:278-92 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.07.008"">10.1016/j.ajhg.2008.07.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29961578"">29961578</a> (REST)
 著者        Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Banfi B
 タイトル      Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
 雑誌        Cell 174:536-548.e21 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2018.06.004"">10.1016/j.cell.2018.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21610158"">21610158</a> (GRHL2)
 著者        Han Y, Mu Y, Li X, Xu P, Tong J, Liu Z, Ma T, Zeng G, Yang S, Du J, Meng A
 タイトル      Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.
 雑誌        Hum Mol Genet 20:3213-26 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr234"">10.1093/hmg/ddr234</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28847925"">28847925</a> (NLRP3)
 著者        Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ
 タイトル      NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
 雑誌        Proc Natl Acad Sci U S A 114:E7766-E7775 (2017)
 DOI:<a href=""https://doi.org/10.1073/pnas.1702946114"">10.1073/pnas.1702946114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18616530"">18616530</a> (TMC1)
 著者        Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G
 タイトル      Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
 雑誌        Clin Genet 74:223-32 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.01053.x"">10.1111/j.1399-0004.2008.01053.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30245514"">30245514</a> (COL11A1)
 著者        Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD
 タイトル      Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
 雑誌        Genet Med 21:948-954 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0285-0"">10.1038/s41436-018-0285-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11175790"">11175790</a> (DSPP)
 著者        Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X
 タイトル      Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
 雑誌        Nat Genet 27:201-4 (2001)
 DOI:<a href=""https://doi.org/10.1038/84848"">10.1038/84848</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12471561"">12471561</a> (CRYM)
 著者        Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y
 タイトル      Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.
 雑誌        Am J Hum Genet 72:73-82 (2003)
 DOI:<a href=""https://doi.org/10.1086/345398"">10.1086/345398</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24211385"">24211385</a> (P2RX2)
 著者        Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
 タイトル      A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.
 雑誌        Gene 534:236-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2013.10.052"">10.1016/j.gene.2013.10.052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17503326"">17503326</a> (CCDC50)
 著者        Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA
 タイトル      A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
 雑誌        Am J Hum Genet 80:1076-89 (2007)
 DOI:<a href=""https://doi.org/10.1086/518311"">10.1086/518311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22038834"">22038834</a> (MIR96)
 著者        Solda G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S
 タイトル      A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.
 雑誌        Hum Mol Genet 21:577-85 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr493"">10.1093/hmg/ddr493</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23936043"">23936043</a> (TNC)
 著者        Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
 タイトル      Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
 雑誌        PLoS One 8:e69549 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0069549"">10.1371/journal.pone.0069549</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21722859"">21722859</a> (DIABLO)
 著者        Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H
 タイトル      Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
 雑誌        Am J Hum Genet 89:56-66 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.027"">10.1016/j.ajhg.2011.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24729539"">24729539</a> (TBC1D24)
 著者        Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
 タイトル      TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
 雑誌        Hum Mutat 35:819-23 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22557"">10.1002/humu.22557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26197441"">26197441</a> (CD164)
 著者        Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Cruger DG, Oostrik J, Kremer H, Tommerup N, Frodin M, Steel KP, Tranebjaerg L, Borglum AD
 タイトル      A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
 雑誌        PLoS Genet 11:e1005386 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005386"">10.1371/journal.pgen.1005386</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25759012"">25759012</a> (OSBPL2)
 著者        Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nurnberg G, Nurnberg P, Steel KP, Knipper M, Bolz HJ
 タイトル      OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
 雑誌        Orphanet J Rare Dis 10:15 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13023-015-0238-5"">10.1186/s13023-015-0238-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25816005"">25816005</a> (HOMER2)
 著者        Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ
 タイトル      HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
 雑誌        PLoS Genet 11:e1005137 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005137"">10.1371/journal.pgen.1005137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26522471"">26522471</a> (KITLG)
 著者        Zazo Seco C, Serrao de Castro L, van Nierop JW, Morin M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vasquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H
 タイトル      Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
 雑誌        Am J Hum Genet 97:647-60 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.09.011"">10.1016/j.ajhg.2015.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26196677"">26196677</a> (MCM2)
 著者        Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y
 タイトル      Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.
 雑誌        PLoS One 10:e0133522 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0133522"">10.1371/journal.pone.0133522</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27657680"">27657680</a> (DMXL2)
 著者        Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T, Wu H
 タイトル      A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
 雑誌        Genet Med 19:553-558 (2017)
 DOI:<a href=""https://doi.org/10.1038/gim.2016.142"">10.1038/gim.2016.142</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28013291"">28013291</a> (SLC44A4)
 著者        Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D
 タイトル      SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
 雑誌        Hum Mol Genet 26:383-394 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw394"">10.1093/hmg/ddw394</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29309402"">29309402</a> (PTPRQ)
 著者        Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, Toliat M, Nurnberg P, Murbe D, Bolz HJ
 タイトル      A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
 雑誌        Genet Med 20:614-621 (2018)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.155"">10.1038/gim.2017.155</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29860631"">29860631</a> (PDE1C)
 著者        Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X
 タイトル      A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
 雑誌        Hum Genet 137:437-446 (2018)
 DOI:<a href=""https://doi.org/10.1007/s00439-018-1895-y"">10.1007/s00439-018-1895-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31231791"">31231791</a> (TRRAP)
 著者        Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D
 タイトル      Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.
 雑誌        Clin Genet 96:300-308 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13590"">10.1111/cge.13590</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30872814"">30872814</a> (PLS1)
 著者        Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM
 タイトル      Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
 雑誌        Eur J Hum Genet 27:869-878 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0372-y"">10.1038/s41431-019-0372-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31273342"">31273342</a> (ABCC1)
 著者        Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y
 タイトル      Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
 雑誌        Genet Med 21:2744-2754 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0594-y"">10.1038/s41436-019-0594-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32294086"">32294086</a> (SLC12A2)
 著者        Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Kubo M, Matsunaga T
 タイトル      Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
 雑誌        PLoS Genet 16:e1008643 (2020)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1008643"">10.1371/journal.pgen.1008643</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31972369"">31972369</a> (SCD5)
 著者        Lu X, Zhang Y, Chen L, Wang Q, Zeng Z, Dong C, Qi Y, Liu Y
 タイトル      Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
 雑誌        Eur J Med Genet 63:103855 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2020.103855"">10.1016/j.ejmg.2020.103855</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32585897"">32585897</a> (GREB1L)
 著者        Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM
 タイトル      Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
 雑誌        Genes (Basel) 11:E687 (2020)
 DOI:<a href=""https://doi.org/10.3390/genes11060687"">10.3390/genes11060687</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29713870"">29713870</a> (ELMOD3)
 著者        Li W, Sun J, Ling J, Li J, He C, Liu Y, Chen H, Men M, Niu Z, Deng Y, Li M, Li T, Wen J, Sang S, Li H, Wan Z, Richard EM, Chapagain P, Yan D, Liu XZ, Mei L, Feng Y
 タイトル      ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
 雑誌        Hum Genet 137:329-342 (2018)
 DOI:<a href=""https://doi.org/10.1007/s00439-018-1885-0"">10.1007/s00439-018-1885-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30535804"">30535804</a> (ATP2B2)
 著者        Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H
 タイトル      De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
 雑誌        Hum Genet 138:61-72 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00439-018-1965-1"">10.1007/s00439-018-1965-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33268592"">33268592</a> (MAP1B)
 著者        Cui L, Zheng J, Zhao Q, Chen JR, Liu H, Peng G, Wu Y, Chen C, He Q, Shi H, Yin S, Friedman RA, Chen Y, Guan MX
 タイトル      Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
 雑誌        JCI Insight 5:136046 (2020)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.136046"">10.1172/jci.insight.136046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/35278131"">35278131</a> (ATP11A)
 著者        Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
 タイトル      Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
 雑誌        Hum Genet 141:431-444 (2022)
 DOI:<a href=""https://doi.org/10.1007/s00439-022-02444-x"">10.1007/s00439-022-02444-x</a>"
H00605,遺伝性難聴 (常染色体劣性),,,"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.",神経系疾患,,"(DFNB1A) GJB2 [HSA:2706] [KO:K07621]
 (DFNB1A) GJB3 [HSA:2707] [KO:K07622]
 (DFNB1B) GJB6 [HSA:10804] [KO:K07625]
 (DFNB2) MYO7A [HSA:4647] [KO:K10359]
 (DFNB3) MYO15A [HSA:51168] [KO:K10361]
 (DFNB4) SLC26A4 [HSA:5172] [KO:K14702]
 (DFNB4) FOXI1 [HSA:2299] [KO:K09401]
 (DFNB4) KCNJ10 [HSA:3766] [KO:K05003]
 (DFNB6) TMIE [HSA:259236] [KO:K23907]
 (DFNB7/11) TMC1 [HSA:117531] [KO:K21988]
 (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634]
 (DFNB9) OTOF [HSA:9381] [KO:K19949]
 (DFNB12) CDH23 [HSA:64072] [KO:K06813]
 (DFNB12) ATP2B2 [HSA:491] [KO:K05850]
 (DFNB15) GIPC3 [HSA:126326] [KO:K20056]
 (DFNB16) STRC [HSA:161497] [KO:K24636]
 (DFNB18A) USH1C [HSA:10083] [KO:K21877]
 (DFNB18B) OTOG [HSA:340990] [KO:K25030]
 (DFNB21) TECTA [HSA:7007] [KO:K18273]
 (DFNB22) OTOA [HSA:146183] [KO:K25029]
 (DFNB23) PCDH15 [HSA:65217] [KO:K16500]
 (DFNB24) RDX [HSA:5962] [KO:K05762]
 (DFNB25) GRXCR1 [HSA:389207] [KO:K17479]
 (DFNB26) GAB1 [HSA:2549] [KO:K09593]
 (DFNB26) METTL13 [HSA:51603] [KO:K25166]
 (DFNB28) TRIOBP [HSA:11078] [KO:K23751]
 (DFNB29) CLDN14 [HSA:23562] [KO:K06087]
 (DFNB30) MYO3A [HSA:53904] [KO:K08834]
 (DFNB31) WHRN [HSA:25861] [KO:K21879]
 (DFNB32) CDC14A [HSA:8556] [KO:K06639]
 (DFNB35) ESRRB [HSA:2103] [KO:K08553]
 (DFNB36) ESPN [HSA:83715] [KO:K24047]
 (DFNB37) MYO6 [HSA:4646] [KO:K10358]
 (DFNB39) HGF [HSA:3082] [KO:K05460]
 (DFNB42) ILDR1 [HSA:286676] [KO:K25781]
 (DFNB44) ADCY1 [HSA:107] [KO:K08041]
 (DFNB48) CIB2 [HSA:10518] [KO:K23837]
 (DFNB49) MARVELD2 [HSA:153562] [KO:K17291]
 (DFNB53) COL11A2 [HSA:1302] [KO:K19721]
 (DFNB57) PDZD7 [HSA:79955] [KO:K21882]
 (DFNB59) PJVK [HSA:494513] [KO:K22147]
 (DFNB61) SLC26A5 [HSA:375611] [KO:K14703]
 (DFNB63) LRTOMT [HSA:220074] [KO:K00545]
 (DFNB66) DCDC2 [HSA:51473] [KO:K23405]
 (DFNB67) LHFPL5 [HSA:222662] [KO:K23893]
 (DFNB68) S1PR2 [HSA:9294] [KO:K04292]
 (DFNB70) PNPT1 [HSA:87178] [KO:K00962]
 (DFNB74) MSRB3 [HSA:253827] [KO:K07305]
 (DFNB76) SYNE4 [HSA:163183] [KO:K23401]
 (DFNB77) LOXHD1 [HSA:125336] [KO:K24822]
 (DFNB79) TPRN [HSA:286262] [KO:K24164]
 (DFNB82) GPSM2 [HSA:29899] [KO:K15837]
 (DFNB84A) PTPRQ [HSA:374462] [KO:K16910]
 (DFNB84B) OTOGL [HSA:283310] [KO:K25030]
 (DFNB86) TBC1D24 [HSA:57465] [KO:K21841]
 (DFNB88) ELMOD3 [HSA:84173] [KO:K23538]
 (DFNB89) KARS [HSA:3735] [KO:K04567]
 (DFNB91) SERPINB6 [HSA:5269] [KO:K13963]
 (DFNB93) CABP2 [HSA:51475] [KO:K23531]
 (DFNB94) NARS2 [HSA:79731] [KO:K01893]
 (DFNB97) MET [HSA:4233] [KO:K05099]
 (DFNB98) TSPEAR [HSA:54084] [KO:K24437]
 (DFNB99) TMEM132E [HSA:124842] [KO:K17599]
 (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024]
 (DFNB101) GRXCR2 [HSA:643226] [KO:K24294]
 (DFNB102) EPS8 [HSA:2059] [KO:K17277]
 (DFNB103) CLIC5 [HSA:53405] [KO:K05025]
 (DFNB104) RIPOR2 [HSA:9750] [KO:K24818]
 (DFNB106) EPS8L2 [HSA:64787] [KO:K17277]
 (DFNB107) WBP2 [HSA:23558] [KO:K22524]
 (DFNB108) ROR1 [HSA:4919] [KO:K05122]
 (DFNB109) ESRP1 [HSA:54845] [KO:K14947]
 (DFNB110) COCH [HSA:1690] [KO:K23574]
 (DFNB111) MPZL2 [HSA:10205]
 (DFNB112) BDP1 [HSA:55814] [KO:K15198]
 (DFNB113) CEACAM16 [HSA:388551] [KO:K06499]
 (DFNB114) GRAP [HSA:10750] [KO:K23694]
 (DFNB115) SPNS2 [HSA:124976] [KO:K23677]
 (DFNB116) CLDN9 [HSA:9080] [KO:K06087]
 (DFNB117) CLRN2 [HSA:645104] [KO:K23841]
 (DFNB119) SPATA5L1 [HSA:79029]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: C567134 C567213 C564007 C563961 C566366 C563444 C563418 C563417 C563396 C565341 C563417 C563327 C566410 C566344 C566611 C566339 C566418 C566580 C565828 C566353 C564633 C563705 C567027 C565329 C565287
 OMIM: 220290 612645 600060 600316 600791 600971 600974 601072 601071 605316 601386 601869 603720 602092 614945 603629 607039 609533 611022 613285 605428 609823 614035 607101 607084 608653 608565 609006 607821 608265 609646 610154 609439 610153 609706 618003 610220 613865 611451 610212 610265 610419 613718 613079 613307 604213 613391 614944 614617 615429 613453 614899 618434 616705 614861 618481 618422 615837 615974 616042 616515 617637 617639 617654 618013 618094 618145 618257 618410 618456 618457 619093 619174 605429 614934 619615","PMID:16650073
 著者        Petersen MB, Willems PJ
 タイトル      Non-syndromic, autosomal-recessive deafness.
 雑誌        Clin Genet 69:371-92 (2006)
 DOI:10.1111/j.1399-0004.2006.00613.x
 PMID:16446920
 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
 DOI:10.1590/S0034-72992005000200016
 PMID:12324385
 著者        Bitner-Glindzicz M
 タイトル      Hereditary deafness and phenotyping in humans.
 雑誌        Br Med Bull 63:73-94 (2002)
 DOI:10.1093/bmb/63.1.73
 PMID:31160754 (GJB2)
 著者        Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN
 タイトル      Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
 雑誌        Genet Med 21:2442-2452 (2019)
 DOI:10.1038/s41436-019-0535-9
 PMID:10587579 (GJB3)
 著者        Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE
 タイトル      Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
 雑誌        Hum Mol Genet 9:63-7 (2000)
 DOI:10.1093/hmg/9.1.63
 PMID:11807148 (GJB6)
 著者        del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F
 タイトル      A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
 雑誌        N Engl J Med 346:243-9 (2002)
 DOI:10.1056/NEJMoa012052
 PMID:9171832 (MYO7A)
 著者        Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD
 タイトル      Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
 雑誌        Nat Genet 16:188-90 (1997)
 DOI:10.1038/ng0697-188
 PMID:11735029 (MYO15A)
 著者        Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB
 タイトル      Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
 雑誌        Hum Genet 109:535-41 (2001)
 DOI:10.1007/s004390100604
 PMID:9500541 (SLC26A4)
 著者        Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER
 タイトル      A mutation in PDS causes non-syndromic recessive deafness.
 雑誌        Nat Genet 18:215-7 (1998)
 DOI:10.1038/ng0398-215
 PMID:17503324 (FOXI1)
 著者        Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ
 タイトル      Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
 雑誌        Am J Hum Genet 80:1055-63 (2007)
 DOI:10.1086/518314
 PMID:19426954 (KCNJ10)
 著者        Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ
 タイトル      Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
 雑誌        Am J Hum Genet 84:651-7 (2009)
 DOI:10.1016/j.ajhg.2009.04.014
 PMID:12145746 (TMIE)
 著者        Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER
 タイトル      Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
 雑誌        Am J Hum Genet 71:632-6 (2002)
 DOI:10.1086/342193
 PMID:11850618 (TMC1)
 著者        Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ
 タイトル      Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
 雑誌        Nat Genet 30:277-84 (2002)
 DOI:10.1038/ng842
 PMID:11137999 (TMPRSS3)
 著者        Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE
 タイトル      Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
 雑誌        Nat Genet 27:59-63 (2001)
 DOI:10.1038/83768
 PMID:10192385 (OTOF)
 著者        Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C
 タイトル      A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
 雑誌        Nat Genet 21:363-9 (1999)
 DOI:10.1038/7693
 PMID:11090341 (CDH23)
 著者        Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ
 タイトル      Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
 雑誌        Am J Hum Genet 68:26-37 (2001)
 DOI:10.1086/316954
 PMID:15829536 (ATP2B2)
 著者        Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ
 タイトル      Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
 雑誌        N Engl J Med 352:1557-64 (2005)
 DOI:10.1056/NEJMoa043899
 PMID:21326233 (GIPC3)
 著者        Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CR, Oostrik J, Admiraal RJ, Neely HR, Latoche JR, Smith RJ, Northup JK, Kremer H, Holt JR, Noben-Trauth K
 タイトル      Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
 雑誌        Nat Commun 2:201 (2011)
 DOI:10.1038/ncomms1200
 PMID:11687802 (STRC)
 著者        Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C
 タイトル      Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
 雑誌        Nat Genet 29:345-9 (2001)
 DOI:10.1038/ng726
 PMID:12136232 (USH1C)
 著者        Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ
 タイトル      Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
 雑誌        Hum Genet 111:26-30 (2002)
 DOI:10.1007/s00439-002-0736-0
 PMID:23122587 (OTOG)
 著者        Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Dominguez-Ruiz M, Garcia-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H
 タイトル      Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
 雑誌        Am J Hum Genet 91:883-9 (2012)
 DOI:10.1016/j.ajhg.2012.09.012
 PMID:9949200 (TECTA)
 著者        Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C
 タイトル      An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
 雑誌        Hum Mol Genet 8:409-12 (1999)
 DOI:10.1093/hmg/8.3.409
 PMID:11972037 (OTOA)
 著者        Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C
 タイトル      Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in  autosomal recessive deafness DFNB22.
 雑誌        Proc Natl Acad Sci U S A 99:6240-5 (2002)
 DOI:10.1073/pnas.082515999
 PMID:14570705 (PCDH15)
 著者        Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER
 タイトル      PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
 雑誌        Hum Mol Genet 12:3215-23 (2003)
 DOI:10.1093/hmg/ddg358
 PMID:17226784 (RDX)
 著者        Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
 雑誌        Hum Mutat 28:417-23 (2007)
 DOI:10.1002/humu.20469
 PMID:20137778 (GRXCR1)
 著者        Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H
 タイトル      Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
 雑誌        Am J Hum Genet 86:138-47 (2010)
 DOI:10.1016/j.ajhg.2009.12.017
 PMID:29408807 (GAB1)
 著者        Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
 雑誌        J Clin Invest 128:1509-1522 (2018)
 DOI:10.1172/JCI97350
 PMID:11101839 (METTL13)
 著者        Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER
 タイトル      Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
 雑誌        Nat Genet 26:431-4 (2000)
 DOI:10.1038/82558
 PMID:16385457 (TRIOBP)
 著者        Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB
 タイトル      Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
 雑誌        Am J Hum Genet 78:137-43 (2006)
 DOI:10.1086/499164
 PMID:11163249 (CLDN14)
 著者        Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB
 タイトル      Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
 雑誌        Cell 104:165-72 (2001)
 DOI:10.1016/s0092-8674(01)00200-8
 PMID:12032315 (MYO3A)
 著者        Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB
 タイトル      From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
 雑誌        Proc Natl Acad Sci U S A 99:7518-23 (2002)
 DOI:10.1073/pnas.102091699
 PMID:11973626 (WHRN)
 著者        Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C
 タイトル      DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
 雑誌        Eur J Hum Genet 10:210-2 (2002)
 DOI:10.1038/sj.ejhg.5200780
 PMID:27259055 (CDC14A)
 著者        Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C
 タイトル      Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
 雑誌        Am J Hum Genet 98:1266-1270 (2016)
 DOI:10.1016/j.ajhg.2016.04.015
 PMID:18179891 (ESRRB)
 著者        Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
 タイトル      Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
 雑誌        Am J Hum Genet 82:125-38 (2008)
 DOI:10.1016/j.ajhg.2007.09.008
 PMID:15286153 (ESPN)
 著者        Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB
 タイトル      Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
 雑誌        J Med Genet 41:591-5 (2004)
 DOI:10.1136/jmg.2004.018523
 PMID:12687499 (MYO6)
 著者        Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER
 タイトル      Mutations of MYO6 are associated with recessive deafness, DFNB37.
 雑誌        Am J Hum Genet 72:1315-22 (2003)
 DOI:10.1086/375122
 PMID:19576567 (HGF)
 著者        Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ
 タイトル      Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
 雑誌        Am J Hum Genet 85:25-39 (2009)
 DOI:10.1016/j.ajhg.2009.06.003
 PMID:21255762 (ILDR1)
 著者        Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nurnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nurnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Muller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C
 タイトル      Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
 雑誌        Am J Hum Genet 88:127-37 (2011)
 DOI:10.1016/j.ajhg.2010.12.011
 PMID:24482543 (ADCY1)
 著者        Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM
 タイトル      Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
 雑誌        Hum Mol Genet 23:3289-98 (2014)
 DOI:10.1093/hmg/ddu042
 PMID:23023331 (CIB2)
 著者        Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
 タイトル      Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
 雑誌        Nat Genet 44:1265-71 (2012)
 DOI:10.1038/ng.2426
 PMID:17186462 (MARVELD2)
 著者        Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB
 タイトル      Tricellulin is a tight-junction protein necessary for hearing.
 雑誌        Am J Hum Genet 79:1040-51 (2006)
 DOI:10.1086/510022
 PMID:16033917 (COL11A2)
 著者        Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ
 タイトル      Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
 雑誌        J Med Genet 42:e61 (2005)
 DOI:10.1136/jmg.2005.032615
 PMID:26416264 (PDZD7)
 著者        Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
 タイトル      PDZD7 and hearing loss: More than just a modifier.
 雑誌        Am J Med Genet A 167A:2957-65 (2015)
 DOI:10.1002/ajmg.a.37274
 PMID:16804542 (PJVK)
 著者        Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C
 タイトル      Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
 雑誌        Nat Genet 38:770-8 (2006)
 DOI:10.1038/ng1829
 PMID:24164807 (SLC26A5)
 著者        Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
 タイトル      Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
 雑誌        Orphanet J Rare Dis 8:172 (2013)
 DOI:10.1186/1750-1172-8-172
 PMID:18953341 (LRTOMT)
 著者        Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H
 タイトル      Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
 雑誌        Nat Genet 40:1335-40 (2008)
 DOI:10.1038/ng.245
 PMID:25601850 (DCDC2)
 著者        Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S
 タイトル      A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
 雑誌        Hum Mol Genet 24:2482-91 (2015)
 DOI:10.1093/hmg/ddv009
 PMID:16752389 (LHFPL5)
 著者        Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
 タイトル      Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
 雑誌        Hum Mutat 27:633-9 (2006)
 DOI:10.1002/humu.20368
 PMID:26805784 (S1PR2)
 著者        Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, Riazuddin S, Ahmad W, Friedman TB, Leal SM
 タイトル      Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
 雑誌        Am J Hum Genet 98:331-8 (2016)
 DOI:10.1016/j.ajhg.2015.12.004
 PMID:23084290 (PNPT1)
 著者        von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nurnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nurnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C
 タイトル      A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
 雑誌        Am J Hum Genet 91:919-27 (2012)
 DOI:10.1016/j.ajhg.2012.09.002
 PMID:21185009 (MSRB3)
 著者        Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
 雑誌        Am J Hum Genet 88:19-29 (2011)
 DOI:10.1016/j.ajhg.2010.11.010
 PMID:23348741 (SYNE4)
 著者        Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB
 タイトル      The LINC complex is essential for hearing.
 雑誌        J Clin Invest 123:740-50 (2013)
 DOI:10.1172/JCI66911
 PMID:19732867 (LOXHD1)
 著者        Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Muller U
 タイトル      Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
 雑誌        Am J Hum Genet 85:328-37 (2009)
 DOI:10.1016/j.ajhg.2009.07.017
 PMID:20170898 (TPRN)
 著者        Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
 タイトル      Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
 雑誌        Am J Hum Genet 86:479-84 (2010)
 DOI:10.1016/j.ajhg.2010.02.003
 PMID:20602914 (GPSM2)
 著者        Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M
 タイトル      Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
 雑誌        Am J Hum Genet 87:90-4 (2010)
 DOI:10.1016/j.ajhg.2010.05.010
 PMID:20346435 (PTPRQ)
 著者        Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H
 タイトル      Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
 雑誌        Am J Hum Genet 86:604-10 (2010)
 DOI:10.1016/j.ajhg.2010.02.015
 PMID:23122586 (OTOGL)
 著者        Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M
 タイトル      Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
 雑誌        Am J Hum Genet 91:872-82 (2012)
 DOI:10.1016/j.ajhg.2012.09.011
 PMID:24387994 (TBC1D24)
 著者        Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB
 タイトル      Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
 雑誌        Am J Hum Genet 94:144-52 (2014)
 DOI:10.1016/j.ajhg.2013.12.004
 PMID:24039609 (ELMOD3)
 著者        Jaworek TJ, Richard EM, Ivanova AA, Giese AP, Choo DI, Khan SN, Riazuddin S, Kahn RA, Riazuddin S
 タイトル      An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
 雑誌        PLoS Genet 9:e1003774 (2013)
 DOI:10.1371/journal.pgen.1003774
 PMID:23768514 (KARS)
 著者        Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM
 タイトル      Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
 雑誌        Am J Hum Genet 93:132-40 (2013)
 DOI:10.1016/j.ajhg.2013.05.018
 PMID:20451170 (SERPINB6)
 著者        Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgoz-Yilmaz S, Hismi B, Ozdag H, Ozturk B, Kulaksizoglu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M
 タイトル      A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
 雑誌        Am J Hum Genet 86:797-804 (2010)
 DOI:10.1016/j.ajhg.2010.04.004
 PMID:22981119 (CABP2)
 著者        Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G
 タイトル      A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
 雑誌        Am J Hum Genet 91:636-45 (2012)
 DOI:10.1016/j.ajhg.2012.08.018
 PMID:25807530 (NARS2)
 著者        Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S
 タイトル      Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
 雑誌        PLoS Genet 11:e1005097 (2015)
 DOI:10.1371/journal.pgen.1005097
 PMID:25941349 (MET)
 著者        Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S
 タイトル      A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
 雑誌        J Med Genet 52:548-52 (2015)
 DOI:10.1136/jmedgenet-2015-103023
 PMID:22678063 (TSPEAR)
 著者        Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C
 タイトル      Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
 雑誌        Hum Mol Genet 21:3835-44 (2012)
 DOI:10.1093/hmg/dds212
 PMID:25331638 (TMEM132E)
 著者        Li J, Zhao X, Xin Q, Shan S, Jiang B, Jin Y, Yuan H, Dai P, Xiao R, Zhang Q, Xiao J, Shao C, Gong Y, Liu Q
 タイトル      Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
 雑誌        Hum Mutat 36:98-105 (2015)
 DOI:10.1002/humu.22712
 PMID:29590114 (PPIP5K2)
 著者        Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
 タイトル      Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
 雑誌        PLoS Genet 14:e1007297 (2018)
 DOI:10.1371/journal.pgen.1007297
 PMID:24619944 (GRXCR2)
 著者        Imtiaz A, Kohrman DC, Naz S
 タイトル      A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.
 雑誌        Hum Mutat 35:618-24 (2014)
 DOI:10.1002/humu.22545
 PMID:24741995 (EPS8)
 著者        Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C
 タイトル      EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
 雑誌        Orphanet J Rare Dis 9:55 (2014)
 DOI:10.1186/1750-1172-9-55
 PMID:17021174 (CLIC5)
 著者        Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR
 タイトル      The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.
 雑誌        J Neurosci 26:10188-98 (2006)
 DOI:10.1523/JNEUROSCI.2166-06.2006
 PMID:24958875 (RIPOR2)
 著者        Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M
 タイトル      FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
 雑誌        Proc Natl Acad Sci U S A 111:9864-8 (2014)
 DOI:10.1073/pnas.1401950111
 PMID:26282398 (EPS8L2)
 著者        Dahmani M, Ammar-Khodja F, Bonnet C, Lefevre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C
 タイトル      EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
 雑誌        Orphanet J Rare Dis 10:96 (2015)
 DOI:10.1186/s13023-015-0316-8
 PMID:26881968 (WBP2)
 著者        Buniello A, Ingham NJ, Lewis MA, Huma AC, Martinez-Vega R, Varela-Nieto I, Vizcay-Barrena G, Fleck RA, Houston O, Bardhan T, Johnson SL, White JK, Yuan H, Marcotti W, Steel KP
 タイトル      Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.
 雑誌        EMBO Mol Med 8:191-207 (2016)
 DOI:10.15252/emmm.201505523
 PMID:27162350 (ROR1)
 著者        Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M
 タイトル      ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 113:5993-8 (2016)
 DOI:10.1073/pnas.1522512113
 PMID:29107558 (ESRP1)
 著者        Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ
 タイトル      ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
 雑誌        Dev Cell 43:318-331.e5 (2017)
 DOI:10.1016/j.devcel.2017.09.026
 PMID:29449721 (COCH)
 著者        JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W
 タイトル      Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
 雑誌        Eur J Hum Genet 26:587-591 (2018)
 DOI:10.1038/s41431-017-0066-2
 PMID:29961571 (MPZL2)
 著者        Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H
 タイトル      MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
 雑誌        Am J Hum Genet 103:74-88 (2018)
 DOI:10.1016/j.ajhg.2018.05.011
 PMID:24312468 (BDP1)
 著者        Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P
 タイトル      Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
 雑誌        PLoS One 8:e80323 (2013)
 DOI:10.1371/journal.pone.0080323
 PMID:29703829 (CEACAM16)
 著者        Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ
 タイトル      Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
 雑誌        J Med Genet 55:555-560 (2018)
 DOI:10.1136/jmedgenet-2018-105349
 PMID:30610177 (GRAP)
 著者        Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M
 タイトル      Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
 雑誌        Proc Natl Acad Sci U S A 116:1347-1352 (2019)
 DOI:10.1073/pnas.1810951116
 PMID:30973865 (SPNS2)
 著者        Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK, Steel KP
 タイトル      Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
 雑誌        PLoS Biol 17:e3000194 (2019)
 DOI:10.1371/journal.pbio.3000194
 PMID:31175426 (CLDN9)
 著者        Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
 タイトル      A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
 雑誌        Hum Genet 138:1071-1075 (2019)
 DOI:10.1007/s00439-019-02037-1
 PMID:33496845 (CLRN2)
 著者        Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Ruschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H
 タイトル      A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
 雑誌        Hum Genet 140:915-931 (2021)
 DOI:10.1007/s00439-020-02254-z
 PMID:34626583 (SPATA5L1)
 著者        Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC
 タイトル      Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
 雑誌        Am J Hum Genet 108:2006-2016 (2021)
 DOI:10.1016/j.ajhg.2021.08.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00605"">H00605</a>",遺伝性難聴 (常染色体劣性),"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.",,"(DFNB1A) GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]
 (DFNB1A) GJB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2707"">2707</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07622"">K07622</a>]
 (DFNB1B) GJB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10804"">10804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07625"">K07625</a>]
 (DFNB2) MYO7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4647"">4647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10359"">K10359</a>]
 (DFNB3) MYO15A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51168"">51168</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10361"">K10361</a>]
 (DFNB4) SLC26A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5172"">5172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14702"">K14702</a>]
 (DFNB4) FOXI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2299"">2299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09401"">K09401</a>]
 (DFNB4) KCNJ10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3766"">3766</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05003"">K05003</a>]
 (DFNB6) TMIE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:259236"">259236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23907"">K23907</a>]
 (DFNB7/11) TMC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117531"">117531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21988"">K21988</a>]
 (DFNB8/10) TMPRSS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64699"">64699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09634"">K09634</a>]
 (DFNB9) OTOF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9381"">9381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19949"">K19949</a>]
 (DFNB12) CDH23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64072"">64072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06813"">K06813</a>]
 (DFNB12) ATP2B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:491"">491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05850"">K05850</a>]
 (DFNB15) GIPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126326"">126326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20056"">K20056</a>]
 (DFNB16) STRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:161497"">161497</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24636"">K24636</a>]
 (DFNB18A) USH1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10083"">10083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21877"">K21877</a>]
 (DFNB18B) OTOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340990"">340990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25030"">K25030</a>]
 (DFNB21) TECTA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7007"">7007</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18273"">K18273</a>]
 (DFNB22) OTOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146183"">146183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25029"">K25029</a>]
 (DFNB23) PCDH15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65217"">65217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16500"">K16500</a>]
 (DFNB24) RDX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5962"">5962</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05762"">K05762</a>]
 (DFNB25) GRXCR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:389207"">389207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17479"">K17479</a>]
 (DFNB26) GAB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2549"">2549</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09593"">K09593</a>]
 (DFNB26) METTL13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51603"">51603</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25166"">K25166</a>]
 (DFNB28) TRIOBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11078"">11078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23751"">K23751</a>]
 (DFNB29) CLDN14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23562"">23562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 (DFNB30) MYO3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53904"">53904</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08834"">K08834</a>]
 (DFNB31) WHRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25861"">25861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21879"">K21879</a>]
 (DFNB32) CDC14A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8556"">8556</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06639"">K06639</a>]
 (DFNB35) ESRRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2103"">2103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08553"">K08553</a>]
 (DFNB36) ESPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83715"">83715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24047"">K24047</a>]
 (DFNB37) MYO6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4646"">4646</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10358"">K10358</a>]
 (DFNB39) HGF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3082"">3082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05460"">K05460</a>]
 (DFNB42) ILDR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286676"">286676</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25781"">K25781</a>]
 (DFNB44) ADCY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:107"">107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08041"">K08041</a>]
 (DFNB48) CIB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10518"">10518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23837"">K23837</a>]
 (DFNB49) MARVELD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:153562"">153562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17291"">K17291</a>]
 (DFNB53) COL11A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (DFNB57) PDZD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79955"">79955</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21882"">K21882</a>]
 (DFNB59) PJVK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:494513"">494513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22147"">K22147</a>]
 (DFNB61) SLC26A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375611"">375611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14703"">K14703</a>]
 (DFNB63) LRTOMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:220074"">220074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00545"">K00545</a>]
 (DFNB66) DCDC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51473"">51473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23405"">K23405</a>]
 (DFNB67) LHFPL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:222662"">222662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23893"">K23893</a>]
 (DFNB68) S1PR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9294"">9294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04292"">K04292</a>]
 (DFNB70) PNPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:87178"">87178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00962"">K00962</a>]
 (DFNB74) MSRB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:253827"">253827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07305"">K07305</a>]
 (DFNB76) SYNE4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:163183"">163183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23401"">K23401</a>]
 (DFNB77) LOXHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:125336"">125336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24822"">K24822</a>]
 (DFNB79) TPRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286262"">286262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24164"">K24164</a>]
 (DFNB82) GPSM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29899"">29899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15837"">K15837</a>]
 (DFNB84A) PTPRQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374462"">374462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16910"">K16910</a>]
 (DFNB84B) OTOGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283310"">283310</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25030"">K25030</a>]
 (DFNB86) TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]
 (DFNB88) ELMOD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84173"">84173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23538"">K23538</a>]
 (DFNB89) KARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3735"">3735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04567"">K04567</a>]
 (DFNB91) SERPINB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5269"">5269</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13963"">K13963</a>]
 (DFNB93) CABP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51475"">51475</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23531"">K23531</a>]
 (DFNB94) NARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79731"">79731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01893"">K01893</a>]
 (DFNB97) MET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 (DFNB98) TSPEAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54084"">54084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24437"">K24437</a>]
 (DFNB99) TMEM132E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124842"">124842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17599"">K17599</a>]
 (DFNB100) PPIP5K2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23262"">23262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13024"">K13024</a>]
 (DFNB101) GRXCR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:643226"">643226</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24294"">K24294</a>]
 (DFNB102) EPS8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2059"">2059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17277"">K17277</a>]
 (DFNB103) CLIC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53405"">53405</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05025"">K05025</a>]
 (DFNB104) RIPOR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9750"">9750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24818"">K24818</a>]
 (DFNB106) EPS8L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64787"">64787</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17277"">K17277</a>]
 (DFNB107) WBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23558"">23558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22524"">K22524</a>]
 (DFNB108) ROR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4919"">4919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05122"">K05122</a>]
 (DFNB109) ESRP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54845"">54845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14947"">K14947</a>]
 (DFNB110) COCH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1690"">1690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23574"">K23574</a>]
 (DFNB111) MPZL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10205"">10205</a>]
 (DFNB112) BDP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55814"">55814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15198"">K15198</a>]
 (DFNB113) CEACAM16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388551"">388551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06499"">K06499</a>]
 (DFNB114) GRAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10750"">10750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23694"">K23694</a>]
 (DFNB115) SPNS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124976"">124976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23677"">K23677</a>]
 (DFNB116) CLDN9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9080"">9080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 (DFNB117) CLRN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:645104"">645104</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23841"">K23841</a>]
 (DFNB119) SPATA5L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79029"">79029</a>]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567134"">C567134</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567213"">C567213</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564007"">C564007</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563961"">C563961</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566366"">C566366</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563444"">C563444</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563418"">C563418</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563417"">C563417</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563396"">C563396</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565341"">C565341</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563417"">C563417</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563327"">C563327</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566410"">C566410</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566344"">C566344</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566611"">C566611</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566339"">C566339</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566418"">C566418</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566580"">C566580</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565828"">C565828</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566353"">C566353</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564633"">C564633</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563705"">C563705</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567027"">C567027</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565329"">C565329</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565287"">C565287</a>
 OMIM: <a href=""https://www.omim.org/entry/220290"">220290</a> <a href=""https://www.omim.org/entry/612645"">612645</a> <a href=""https://www.omim.org/entry/600060"">600060</a> <a href=""https://www.omim.org/entry/600316"">600316</a> <a href=""https://www.omim.org/entry/600791"">600791</a> <a href=""https://www.omim.org/entry/600971"">600971</a> <a href=""https://www.omim.org/entry/600974"">600974</a> <a href=""https://www.omim.org/entry/601072"">601072</a> <a href=""https://www.omim.org/entry/601071"">601071</a> <a href=""https://www.omim.org/entry/605316"">605316</a> <a href=""https://www.omim.org/entry/601386"">601386</a> <a href=""https://www.omim.org/entry/601869"">601869</a> <a href=""https://www.omim.org/entry/603720"">603720</a> <a href=""https://www.omim.org/entry/602092"">602092</a> <a href=""https://www.omim.org/entry/614945"">614945</a> <a href=""https://www.omim.org/entry/603629"">603629</a> <a href=""https://www.omim.org/entry/607039"">607039</a> <a href=""https://www.omim.org/entry/609533"">609533</a> <a href=""https://www.omim.org/entry/611022"">611022</a> <a href=""https://www.omim.org/entry/613285"">613285</a> <a href=""https://www.omim.org/entry/605428"">605428</a> <a href=""https://www.omim.org/entry/609823"">609823</a> <a href=""https://www.omim.org/entry/614035"">614035</a> <a href=""https://www.omim.org/entry/607101"">607101</a> <a href=""https://www.omim.org/entry/607084"">607084</a> <a href=""https://www.omim.org/entry/608653"">608653</a> <a href=""https://www.omim.org/entry/608565"">608565</a> <a href=""https://www.omim.org/entry/609006"">609006</a> <a href=""https://www.omim.org/entry/607821"">607821</a> <a href=""https://www.omim.org/entry/608265"">608265</a> <a href=""https://www.omim.org/entry/609646"">609646</a> <a href=""https://www.omim.org/entry/610154"">610154</a> <a href=""https://www.omim.org/entry/609439"">609439</a> <a href=""https://www.omim.org/entry/610153"">610153</a> <a href=""https://www.omim.org/entry/609706"">609706</a> <a href=""https://www.omim.org/entry/618003"">618003</a> <a href=""https://www.omim.org/entry/610220"">610220</a> <a href=""https://www.omim.org/entry/613865"">613865</a> <a href=""https://www.omim.org/entry/611451"">611451</a> <a href=""https://www.omim.org/entry/610212"">610212</a> <a href=""https://www.omim.org/entry/610265"">610265</a> <a href=""https://www.omim.org/entry/610419"">610419</a> <a href=""https://www.omim.org/entry/613718"">613718</a> <a href=""https://www.omim.org/entry/613079"">613079</a> <a href=""https://www.omim.org/entry/613307"">613307</a> <a href=""https://www.omim.org/entry/604213"">604213</a> <a href=""https://www.omim.org/entry/613391"">613391</a> <a href=""https://www.omim.org/entry/614944"">614944</a> <a href=""https://www.omim.org/entry/614617"">614617</a> <a href=""https://www.omim.org/entry/615429"">615429</a> <a href=""https://www.omim.org/entry/613453"">613453</a> <a href=""https://www.omim.org/entry/614899"">614899</a> <a href=""https://www.omim.org/entry/618434"">618434</a> <a href=""https://www.omim.org/entry/616705"">616705</a> <a href=""https://www.omim.org/entry/614861"">614861</a> <a href=""https://www.omim.org/entry/618481"">618481</a> <a href=""https://www.omim.org/entry/618422"">618422</a> <a href=""https://www.omim.org/entry/615837"">615837</a> <a href=""https://www.omim.org/entry/615974"">615974</a> <a href=""https://www.omim.org/entry/616042"">616042</a> <a href=""https://www.omim.org/entry/616515"">616515</a> <a href=""https://www.omim.org/entry/617637"">617637</a> <a href=""https://www.omim.org/entry/617639"">617639</a> <a href=""https://www.omim.org/entry/617654"">617654</a> <a href=""https://www.omim.org/entry/618013"">618013</a> <a href=""https://www.omim.org/entry/618094"">618094</a> <a href=""https://www.omim.org/entry/618145"">618145</a> <a href=""https://www.omim.org/entry/618257"">618257</a> <a href=""https://www.omim.org/entry/618410"">618410</a> <a href=""https://www.omim.org/entry/618456"">618456</a> <a href=""https://www.omim.org/entry/618457"">618457</a> <a href=""https://www.omim.org/entry/619093"">619093</a> <a href=""https://www.omim.org/entry/619174"">619174</a> <a href=""https://www.omim.org/entry/605429"">605429</a> <a href=""https://www.omim.org/entry/614934"">614934</a> <a href=""https://www.omim.org/entry/619615"">619615</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16650073"">16650073</a>
 著者        Petersen MB, Willems PJ
 タイトル      Non-syndromic, autosomal-recessive deafness.
 雑誌        Clin Genet 69:371-92 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2006.00613.x"">10.1111/j.1399-0004.2006.00613.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16446920"">16446920</a>
 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
 DOI:<a href=""https://doi.org/10.1590/S0034-72992005000200016"">10.1590/S0034-72992005000200016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12324385"">12324385</a>
 著者        Bitner-Glindzicz M
 タイトル      Hereditary deafness and phenotyping in humans.
 雑誌        Br Med Bull 63:73-94 (2002)
 DOI:<a href=""https://doi.org/10.1093/bmb/63.1.73"">10.1093/bmb/63.1.73</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31160754"">31160754</a> (GJB2)
 著者        Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN
 タイトル      Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
 雑誌        Genet Med 21:2442-2452 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0535-9"">10.1038/s41436-019-0535-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10587579"">10587579</a> (GJB3)
 著者        Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE
 タイトル      Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
 雑誌        Hum Mol Genet 9:63-7 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.1.63"">10.1093/hmg/9.1.63</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11807148"">11807148</a> (GJB6)
 著者        del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F
 タイトル      A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
 雑誌        N Engl J Med 346:243-9 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa012052"">10.1056/NEJMoa012052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9171832"">9171832</a> (MYO7A)
 著者        Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD
 タイトル      Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
 雑誌        Nat Genet 16:188-90 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0697-188"">10.1038/ng0697-188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11735029"">11735029</a> (MYO15A)
 著者        Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB
 タイトル      Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
 雑誌        Hum Genet 109:535-41 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004390100604"">10.1007/s004390100604</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9500541"">9500541</a> (SLC26A4)
 著者        Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER
 タイトル      A mutation in PDS causes non-syndromic recessive deafness.
 雑誌        Nat Genet 18:215-7 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0398-215"">10.1038/ng0398-215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17503324"">17503324</a> (FOXI1)
 著者        Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ
 タイトル      Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
 雑誌        Am J Hum Genet 80:1055-63 (2007)
 DOI:<a href=""https://doi.org/10.1086/518314"">10.1086/518314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19426954"">19426954</a> (KCNJ10)
 著者        Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ
 タイトル      Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
 雑誌        Am J Hum Genet 84:651-7 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.014"">10.1016/j.ajhg.2009.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12145746"">12145746</a> (TMIE)
 著者        Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER
 タイトル      Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
 雑誌        Am J Hum Genet 71:632-6 (2002)
 DOI:<a href=""https://doi.org/10.1086/342193"">10.1086/342193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11850618"">11850618</a> (TMC1)
 著者        Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ
 タイトル      Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
 雑誌        Nat Genet 30:277-84 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng842"">10.1038/ng842</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11137999"">11137999</a> (TMPRSS3)
 著者        Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE
 タイトル      Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
 雑誌        Nat Genet 27:59-63 (2001)
 DOI:<a href=""https://doi.org/10.1038/83768"">10.1038/83768</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10192385"">10192385</a> (OTOF)
 著者        Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C
 タイトル      A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
 雑誌        Nat Genet 21:363-9 (1999)
 DOI:<a href=""https://doi.org/10.1038/7693"">10.1038/7693</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11090341"">11090341</a> (CDH23)
 著者        Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ
 タイトル      Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
 雑誌        Am J Hum Genet 68:26-37 (2001)
 DOI:<a href=""https://doi.org/10.1086/316954"">10.1086/316954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15829536"">15829536</a> (ATP2B2)
 著者        Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ
 タイトル      Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
 雑誌        N Engl J Med 352:1557-64 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa043899"">10.1056/NEJMoa043899</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21326233"">21326233</a> (GIPC3)
 著者        Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CR, Oostrik J, Admiraal RJ, Neely HR, Latoche JR, Smith RJ, Northup JK, Kremer H, Holt JR, Noben-Trauth K
 タイトル      Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
 雑誌        Nat Commun 2:201 (2011)
 DOI:<a href=""https://doi.org/10.1038/ncomms1200"">10.1038/ncomms1200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11687802"">11687802</a> (STRC)
 著者        Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C
 タイトル      Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
 雑誌        Nat Genet 29:345-9 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng726"">10.1038/ng726</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12136232"">12136232</a> (USH1C)
 著者        Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ
 タイトル      Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
 雑誌        Hum Genet 111:26-30 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0736-0"">10.1007/s00439-002-0736-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23122587"">23122587</a> (OTOG)
 著者        Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Dominguez-Ruiz M, Garcia-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H
 タイトル      Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
 雑誌        Am J Hum Genet 91:883-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.012"">10.1016/j.ajhg.2012.09.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9949200"">9949200</a> (TECTA)
 著者        Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C
 タイトル      An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
 雑誌        Hum Mol Genet 8:409-12 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.3.409"">10.1093/hmg/8.3.409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11972037"">11972037</a> (OTOA)
 著者        Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C
 タイトル      Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in  autosomal recessive deafness DFNB22.
 雑誌        Proc Natl Acad Sci U S A 99:6240-5 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.082515999"">10.1073/pnas.082515999</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14570705"">14570705</a> (PCDH15)
 著者        Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER
 タイトル      PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
 雑誌        Hum Mol Genet 12:3215-23 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg358"">10.1093/hmg/ddg358</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17226784"">17226784</a> (RDX)
 著者        Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
 雑誌        Hum Mutat 28:417-23 (2007)
 DOI:<a href=""https://doi.org/10.1002/humu.20469"">10.1002/humu.20469</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137778"">20137778</a> (GRXCR1)
 著者        Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H
 タイトル      Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
 雑誌        Am J Hum Genet 86:138-47 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.017"">10.1016/j.ajhg.2009.12.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29408807"">29408807</a> (GAB1)
 著者        Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
 雑誌        J Clin Invest 128:1509-1522 (2018)
 DOI:<a href=""https://doi.org/10.1172/JCI97350"">10.1172/JCI97350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11101839"">11101839</a> (METTL13)
 著者        Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER
 タイトル      Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
 雑誌        Nat Genet 26:431-4 (2000)
 DOI:<a href=""https://doi.org/10.1038/82558"">10.1038/82558</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16385457"">16385457</a> (TRIOBP)
 著者        Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB
 タイトル      Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
 雑誌        Am J Hum Genet 78:137-43 (2006)
 DOI:<a href=""https://doi.org/10.1086/499164"">10.1086/499164</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11163249"">11163249</a> (CLDN14)
 著者        Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB
 タイトル      Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
 雑誌        Cell 104:165-72 (2001)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(01)00200-8"">10.1016/s0092-8674(01)00200-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12032315"">12032315</a> (MYO3A)
 著者        Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB
 タイトル      From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
 雑誌        Proc Natl Acad Sci U S A 99:7518-23 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.102091699"">10.1073/pnas.102091699</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11973626"">11973626</a> (WHRN)
 著者        Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C
 タイトル      DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
 雑誌        Eur J Hum Genet 10:210-2 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200780"">10.1038/sj.ejhg.5200780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259055"">27259055</a> (CDC14A)
 著者        Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C
 タイトル      Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
 雑誌        Am J Hum Genet 98:1266-1270 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.04.015"">10.1016/j.ajhg.2016.04.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179891"">18179891</a> (ESRRB)
 著者        Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
 タイトル      Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
 雑誌        Am J Hum Genet 82:125-38 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.008"">10.1016/j.ajhg.2007.09.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15286153"">15286153</a> (ESPN)
 著者        Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB
 タイトル      Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
 雑誌        J Med Genet 41:591-5 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.018523"">10.1136/jmg.2004.018523</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12687499"">12687499</a> (MYO6)
 著者        Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER
 タイトル      Mutations of MYO6 are associated with recessive deafness, DFNB37.
 雑誌        Am J Hum Genet 72:1315-22 (2003)
 DOI:<a href=""https://doi.org/10.1086/375122"">10.1086/375122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19576567"">19576567</a> (HGF)
 著者        Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ
 タイトル      Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
 雑誌        Am J Hum Genet 85:25-39 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.003"">10.1016/j.ajhg.2009.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21255762"">21255762</a> (ILDR1)
 著者        Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nurnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nurnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Muller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C
 タイトル      Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
 雑誌        Am J Hum Genet 88:127-37 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.011"">10.1016/j.ajhg.2010.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24482543"">24482543</a> (ADCY1)
 著者        Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM
 タイトル      Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
 雑誌        Hum Mol Genet 23:3289-98 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu042"">10.1093/hmg/ddu042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023331"">23023331</a> (CIB2)
 著者        Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
 タイトル      Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
 雑誌        Nat Genet 44:1265-71 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2426"">10.1038/ng.2426</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17186462"">17186462</a> (MARVELD2)
 著者        Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB
 タイトル      Tricellulin is a tight-junction protein necessary for hearing.
 雑誌        Am J Hum Genet 79:1040-51 (2006)
 DOI:<a href=""https://doi.org/10.1086/510022"">10.1086/510022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16033917"">16033917</a> (COL11A2)
 著者        Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ
 タイトル      Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
 雑誌        J Med Genet 42:e61 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.032615"">10.1136/jmg.2005.032615</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26416264"">26416264</a> (PDZD7)
 著者        Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
 タイトル      PDZD7 and hearing loss: More than just a modifier.
 雑誌        Am J Med Genet A 167A:2957-65 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37274"">10.1002/ajmg.a.37274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16804542"">16804542</a> (PJVK)
 著者        Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C
 タイトル      Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
 雑誌        Nat Genet 38:770-8 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1829"">10.1038/ng1829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24164807"">24164807</a> (SLC26A5)
 著者        Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
 タイトル      Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
 雑誌        Orphanet J Rare Dis 8:172 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-172"">10.1186/1750-1172-8-172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18953341"">18953341</a> (LRTOMT)
 著者        Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H
 タイトル      Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
 雑誌        Nat Genet 40:1335-40 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.245"">10.1038/ng.245</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25601850"">25601850</a> (DCDC2)
 著者        Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S
 タイトル      A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
 雑誌        Hum Mol Genet 24:2482-91 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv009"">10.1093/hmg/ddv009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16752389"">16752389</a> (LHFPL5)
 著者        Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
 タイトル      Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
 雑誌        Hum Mutat 27:633-9 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20368"">10.1002/humu.20368</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26805784"">26805784</a> (S1PR2)
 著者        Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, Riazuddin S, Ahmad W, Friedman TB, Leal SM
 タイトル      Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
 雑誌        Am J Hum Genet 98:331-8 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.12.004"">10.1016/j.ajhg.2015.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23084290"">23084290</a> (PNPT1)
 著者        von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nurnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nurnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C
 タイトル      A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
 雑誌        Am J Hum Genet 91:919-27 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.002"">10.1016/j.ajhg.2012.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21185009"">21185009</a> (MSRB3)
 著者        Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S
 タイトル      Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
 雑誌        Am J Hum Genet 88:19-29 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.11.010"">10.1016/j.ajhg.2010.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23348741"">23348741</a> (SYNE4)
 著者        Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB
 タイトル      The LINC complex is essential for hearing.
 雑誌        J Clin Invest 123:740-50 (2013)
 DOI:<a href=""https://doi.org/10.1172/JCI66911"">10.1172/JCI66911</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19732867"">19732867</a> (LOXHD1)
 著者        Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Muller U
 タイトル      Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
 雑誌        Am J Hum Genet 85:328-37 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.07.017"">10.1016/j.ajhg.2009.07.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170898"">20170898</a> (TPRN)
 著者        Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
 タイトル      Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
 雑誌        Am J Hum Genet 86:479-84 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.003"">10.1016/j.ajhg.2010.02.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20602914"">20602914</a> (GPSM2)
 著者        Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M
 タイトル      Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
 雑誌        Am J Hum Genet 87:90-4 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.05.010"">10.1016/j.ajhg.2010.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20346435"">20346435</a> (PTPRQ)
 著者        Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H
 タイトル      Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
 雑誌        Am J Hum Genet 86:604-10 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.015"">10.1016/j.ajhg.2010.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23122586"">23122586</a> (OTOGL)
 著者        Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M
 タイトル      Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
 雑誌        Am J Hum Genet 91:872-82 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.011"">10.1016/j.ajhg.2012.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24387994"">24387994</a> (TBC1D24)
 著者        Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB
 タイトル      Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
 雑誌        Am J Hum Genet 94:144-52 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.004"">10.1016/j.ajhg.2013.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24039609"">24039609</a> (ELMOD3)
 著者        Jaworek TJ, Richard EM, Ivanova AA, Giese AP, Choo DI, Khan SN, Riazuddin S, Kahn RA, Riazuddin S
 タイトル      An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
 雑誌        PLoS Genet 9:e1003774 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1003774"">10.1371/journal.pgen.1003774</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23768514"">23768514</a> (KARS)
 著者        Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM
 タイトル      Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
 雑誌        Am J Hum Genet 93:132-40 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.018"">10.1016/j.ajhg.2013.05.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20451170"">20451170</a> (SERPINB6)
 著者        Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgoz-Yilmaz S, Hismi B, Ozdag H, Ozturk B, Kulaksizoglu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M
 タイトル      A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
 雑誌        Am J Hum Genet 86:797-804 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.004"">10.1016/j.ajhg.2010.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22981119"">22981119</a> (CABP2)
 著者        Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G
 タイトル      A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
 雑誌        Am J Hum Genet 91:636-45 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.018"">10.1016/j.ajhg.2012.08.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25807530"">25807530</a> (NARS2)
 著者        Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S
 タイトル      Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
 雑誌        PLoS Genet 11:e1005097 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005097"">10.1371/journal.pgen.1005097</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25941349"">25941349</a> (MET)
 著者        Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S
 タイトル      A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
 雑誌        J Med Genet 52:548-52 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103023"">10.1136/jmedgenet-2015-103023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22678063"">22678063</a> (TSPEAR)
 著者        Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C
 タイトル      Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
 雑誌        Hum Mol Genet 21:3835-44 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds212"">10.1093/hmg/dds212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25331638"">25331638</a> (TMEM132E)
 著者        Li J, Zhao X, Xin Q, Shan S, Jiang B, Jin Y, Yuan H, Dai P, Xiao R, Zhang Q, Xiao J, Shao C, Gong Y, Liu Q
 タイトル      Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
 雑誌        Hum Mutat 36:98-105 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22712"">10.1002/humu.22712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29590114"">29590114</a> (PPIP5K2)
 著者        Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
 タイトル      Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
 雑誌        PLoS Genet 14:e1007297 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007297"">10.1371/journal.pgen.1007297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24619944"">24619944</a> (GRXCR2)
 著者        Imtiaz A, Kohrman DC, Naz S
 タイトル      A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.
 雑誌        Hum Mutat 35:618-24 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22545"">10.1002/humu.22545</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24741995"">24741995</a> (EPS8)
 著者        Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C
 タイトル      EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
 雑誌        Orphanet J Rare Dis 9:55 (2014)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-9-55"">10.1186/1750-1172-9-55</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17021174"">17021174</a> (CLIC5)
 著者        Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR
 タイトル      The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.
 雑誌        J Neurosci 26:10188-98 (2006)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.2166-06.2006"">10.1523/JNEUROSCI.2166-06.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24958875"">24958875</a> (RIPOR2)
 著者        Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M
 タイトル      FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
 雑誌        Proc Natl Acad Sci U S A 111:9864-8 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1401950111"">10.1073/pnas.1401950111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26282398"">26282398</a> (EPS8L2)
 著者        Dahmani M, Ammar-Khodja F, Bonnet C, Lefevre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C
 タイトル      EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
 雑誌        Orphanet J Rare Dis 10:96 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13023-015-0316-8"">10.1186/s13023-015-0316-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26881968"">26881968</a> (WBP2)
 著者        Buniello A, Ingham NJ, Lewis MA, Huma AC, Martinez-Vega R, Varela-Nieto I, Vizcay-Barrena G, Fleck RA, Houston O, Bardhan T, Johnson SL, White JK, Yuan H, Marcotti W, Steel KP
 タイトル      Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.
 雑誌        EMBO Mol Med 8:191-207 (2016)
 DOI:<a href=""https://doi.org/10.15252/emmm.201505523"">10.15252/emmm.201505523</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27162350"">27162350</a> (ROR1)
 著者        Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M
 タイトル      ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 113:5993-8 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1522512113"">10.1073/pnas.1522512113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29107558"">29107558</a> (ESRP1)
 著者        Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ
 タイトル      ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
 雑誌        Dev Cell 43:318-331.e5 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.devcel.2017.09.026"">10.1016/j.devcel.2017.09.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29449721"">29449721</a> (COCH)
 著者        JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W
 タイトル      Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
 雑誌        Eur J Hum Genet 26:587-591 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0066-2"">10.1038/s41431-017-0066-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29961571"">29961571</a> (MPZL2)
 著者        Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H
 タイトル      MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
 雑誌        Am J Hum Genet 103:74-88 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.05.011"">10.1016/j.ajhg.2018.05.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24312468"">24312468</a> (BDP1)
 著者        Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P
 タイトル      Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
 雑誌        PLoS One 8:e80323 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0080323"">10.1371/journal.pone.0080323</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29703829"">29703829</a> (CEACAM16)
 著者        Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ
 タイトル      Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
 雑誌        J Med Genet 55:555-560 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105349"">10.1136/jmedgenet-2018-105349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30610177"">30610177</a> (GRAP)
 著者        Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M
 タイトル      Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
 雑誌        Proc Natl Acad Sci U S A 116:1347-1352 (2019)
 DOI:<a href=""https://doi.org/10.1073/pnas.1810951116"">10.1073/pnas.1810951116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30973865"">30973865</a> (SPNS2)
 著者        Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK, Steel KP
 タイトル      Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
 雑誌        PLoS Biol 17:e3000194 (2019)
 DOI:<a href=""https://doi.org/10.1371/journal.pbio.3000194"">10.1371/journal.pbio.3000194</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31175426"">31175426</a> (CLDN9)
 著者        Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
 タイトル      A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
 雑誌        Hum Genet 138:1071-1075 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00439-019-02037-1"">10.1007/s00439-019-02037-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33496845"">33496845</a> (CLRN2)
 著者        Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Ruschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H
 タイトル      A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
 雑誌        Hum Genet 140:915-931 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02254-z"">10.1007/s00439-020-02254-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34626583"">34626583</a> (SPATA5L1)
 著者        Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC
 タイトル      Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
 雑誌        Am J Hum Genet 108:2006-2016 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.08.003"">10.1016/j.ajhg.2021.08.003</a>"
H00606,"早期乳児てんかん性脳症;
 発達性およびてんかん性脳症;
 大田原症候群
 下位グループ    ウエスト症候群 [DS:H01460]
 レノックス・ガストー症候群 [DS:H01813]
 PCDH19 関連症候群 [DS:H01775]
 遊走性焦点発作を伴う乳児てんかん [DS:H01815]
 脳のミエリン形成不全 [DS:H01305]
 上位グループ    症候性全般てんかん [DS:H00577]",,,"Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome.",神経系疾患,,"(DEE1) ARX [HSA:170302] [KO:K09452]
 (DEE2) CDKL5 [HSA:6792] [KO:K08824]
 (DEE3) SLC25A22 [HSA:79751] [KO:K15107]
 (DEE4) STXBP1 [HSA:6812] [KO:K15292]
 (DEE5) SPTAN1 [HSA:6709] [KO:K06114]
 (DEE6B) SCN1A [HSA:6323] [KO:K04833]
 (DEE7) KCNQ2 [HSA:3785] [KO:K04927]
 (DEE8) ARHGEF9 [HSA:23229] [KO:K20686]
 (DEE9) PCDH19 [HSA:57526] [KO:K16499]
 (DEE10) PNKP [HSA:11284] [KO:K08073]
 (DEE11) SCN2A [HSA:6326] [KO:K04834]
 (DEE12) PLCB1 [HSA:23236] [KO:K05858]
 (DEE13) SCN8A [HSA:6334] [KO:K04840]
 (DEE14) KCNT1 [HSA:57582] [KO:K04946]
 (DEE15) ST3GAL3 [HSA:6487] [KO:K00781]
 (DEE16) TBC1D24 [HSA:57465] [KO:K21841]
 (DEE17) GNAO1 [HSA:2775] [KO:K04534]
 (DEE18) SZT2 [HSA:23334] [KO:K23298]
 (DEE19) GABRA1 [HSA:2554] [KO:K05175]
 (DEE21) NECAP1 [HSA:25977] [KO:K20069]
 (DEE22) SLC35A2 [HSA:7355] [KO:K15272]
 (DEE23) DOCK7 [HSA:85440] [KO:K21852]
 (DEE24) HCN1 [HSA:348980] [KO:K04954]
 (DEE25) SLC13A5 [HSA:284111] [KO:K14445]
 (DEE26) KCNB1 [HSA:3745] [KO:K04885]
 (DEE27) GRIN2B [HSA:2904] [KO:K05210]
 (DEE28) WWOX [HSA:51741] [KO:K19329]
 (DEE29) AARS [HSA:16] [KO:K01872]
 (DEE30) SIK1 [HSA:150094] [KO:K19008]
 (DEE31) DNM1 [HSA:1759] [KO:K01528]
 (DEE32) KCNA2 [HSA:3737] [KO:K04875]
 (DEE33) EEF1A2 [HSA:1917] [KO:K03231]
 (DEE34) SLC12A5 [HSA:57468] [KO:K23967]
 (DEE35) ITPA [HSA:3704] [KO:K01519]
 (DEE36) ALG13 [HSA:79868] [KO:K07432]
 (DEE37) FRRS1L [HSA:23732] [KO:K25381]
 (DEE38) ARV1 [HSA:64801] [KO:K21848]
 (DEE39) SLC25A12 [HSA:8604] [KO:K15105]
 (DEE40) GUF1 [HSA:60558] [KO:K21594]
 (DEE41) SLC1A2 [HSA:6506] [KO:K05613]
 (DEE42) CACNA1A [HSA:773] [KO:K04344]
 (DEE43) GABRB3 [HSA:2562] [KO:K05181]
 (DEE44) UBA5 [HSA:79876] [KO:K12164]
 (DEE45) GABRB1 [HSA:2560] [KO:K05181]
 (DEE46) GRIN2D [HSA:2906] [KO:K05212]
 (DEE47) FGF12 [HSA:2257] [KO:K22413]
 (DEE48) AP3B2 [HSA:8120] [KO:K12397]
 (DEE49) DENND5A [HSA:23258] [KO:K20164]
 (DEE50) CAD [HSA:790] [KO:K11540]
 (DEE51) MDH2 [HSA:4191] [KO:K00026]
 (DEE52) SCN1B [HSA:6324] [KO:K04845]
 (DEE53) SYNJ1 [HSA:8867] [KO:K20279]
 (DEE54) HNRNPU [HSA:3192] [KO:K12888]
 (DEE55) PIGP [HSA:51227] [KO:K03861]
 (DEE56) YWHAG [HSA:7532] [KO:K16198]
 (DEE57) KCNT2 [HSA:343450] [KO:K04947]
 (DEE58) NTRK2 [HSA:4915] [KO:K04360]
 (DEE59) GABBR2 [HSA:9568] [KO:K04615]
 (DEE60) CNPY3 [HSA:10695] [KO:K22816]
 (DEE61) ADAM22 [HSA:53616] [KO:K16068]
 (DEE62) SCN3A [HSA:6328] [KO:K04836]
 (DEE63) CPLX1 [HSA:10815] [KO:K15294]
 (DEE64) RHOBTB2 [HSA:23221] [KO:K07868]
 (DEE65) CYFIP2 [HSA:26999] [KO:K05749]
 (DEE66) PACS2 [HSA:23241] [KO:K23294]
 (DEE67) CUX2 [HSA:23316] [KO:K09313]
 (DEE68) TRAK1 [HSA:22906] [KO:K15369]
 (DEE69) CACNA1E [HSA:777] [KO:K04852]
 (DEE70) PHACTR1 [HSA:221692] [KO:K17594]
 (DEE71) GLS [HSA:2744] [KO:K01425]
 (DEE72) NEUROD2 [HSA:4761] [KO:K09078]
 (DEE73) RNF13 [HSA:11342] [KO:K15692]
 (DEE74) GABRG2 [HSA:2566] [KO:K05186]
 (DEE75) PARS2 [HSA:25973] [KO:K01881]
 (DEE76) ACTL6B [HSA:51412] [KO:K11652]
 (DEE77) PIGQ [HSA:9091] [KO:K03860]
 (DEE78) GABRA2 [HSA:2555] [KO:K05175]
 (DEE79) GABRA5 [HSA:2558] [KO:K05175]
 (DEE80) PIGB [HSA:9488] [KO:K05286]
 (DEE81) DMXL2 [HSA:23312] [KO:K24155]
 (DEE82) GOT2 [HSA:2806] [KO:K14455]
 (DEE83) UGP2 [HSA:7360] [KO:K00963]
 (DEE84) UGDH [HSA:7358] [KO:K00012]
 (DEE85) SMC1A [HSA:8243] [KO:K06636]
 (DEE86) DALRD3 [HSA:55152] [KO:K24973]
 (DEE87) CDK19 [HSA:23097] [KO:K02208]
 (DEE88) MDH1 [HSA:4190] [KO:K00025]
 (DEE89) GAD1 [HSA:2571] [KO:K01580]
 (DEE90) FGF13 [HSA:2258] [KO:K22413]
 (DEE91) PPP3CA [HSA:5530] [KO:K04348]
 (DEE92) GABRB2 [HSA:2561] [KO:K05181]
 (DEE93) ATP6V1A [HSA:523] [KO:K02145]
 (DEE94) CHD2 [HSA:1106] [KO:K20091]
 (DEE95) PIGS [HSA:94005] [KO:K05291]
 (DEE96) NSF [HSA:4905] [KO:K06027]
 (DEE97) CELF2 [HSA:10659] [KO:K13207]
 (DEE98) ATP1A2 [HSA:477] [KO:K01539]
 (DEE99) ATP1A3 [HSA:478] [KO:K01539]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.3
 MeSH: C538670
 OMIM: 308350 300672 609304 612164 613477 619317 613720 300607 300088 613402 613721 613722 614558 614959 615006 615338 615473 615476 615744 615833 300896 615859 615871 615905 616056 616139 616211 616339 616341 616346 616366 616409 616645 616647 300884 616981 617020 612949 617065 617105 617106 617113 617132 617153 617162 617166 617276 617281 114010 617339 617350 617389 617391 617904 617771 617830 617904 617599 617665 617929 617933 617938 617976 618004 618008 618067 618141 618201 618285 618298 618328 618374 618379 618396 618437 618468 618548 618557 618559 618580 618663 618721 618744 618792 301044 618910 618916 618959 619124 301058 617711 617829 618012 615369 618143 619340 619561 619605 619606","PMID:14734930
 著者        Ohtahara S, Yamatogi Y
 タイトル      Epileptic encephalopathies in early infancy with suppression-burst.
 雑誌        J Clin Neurophysiol 20:398-407 (2003)
 DOI:10.1097/00004691-200311000-00003
 PMID:16829045
 著者        Ohtahara S, Yamatogi Y
 タイトル      Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
 雑誌        Epilepsy Res 70 Suppl 1:S58-67 (2006)
 DOI:10.1016/j.eplepsyres.2005.11.021
 PMID:11751020
 著者        Yamatogi Y, Ohtahara S
 タイトル      Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases.
 雑誌        Brain Dev 24:13-23 (2002)
 DOI:10.1016/S0387-7604(01)00392-8
 PMID:26517219
 著者        Gonsales MC, Montenegro MA, Soler CV, Coan AC, Guerreiro MM, Lopes-Cendes I
 タイトル      Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.
 雑誌        Arq Neuropsiquiatr 73:946-58 (2015)
 DOI:10.1590/0004-282X20150122
 PMID:26597089
 著者        McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE
 タイトル      The genetic landscape of the epileptic encephalopathies of infancy and childhood.
 雑誌        Lancet Neurol 15:304-16 (2016)
 DOI:10.1016/S1474-4422(15)00250-1
 PMID:11889467 (ARX)
 著者        Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J
 タイトル      Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
 雑誌        Nat Genet 30:441-5 (2002)
 DOI:10.1038/ng862
 PMID:15492925 (CDKL5)
 著者        Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J
 タイトル      Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
 雑誌        Am J Hum Genet 75:1079-93 (2004)
 DOI:10.1086/426462
 PMID:15592994 (SLC25A22)
 著者        Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L
 タイトル      Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
 雑誌        Am J Hum Genet 76:334-9 (2005)
 DOI:10.1086/427564
 PMID:18469812 (STXBP1)
 著者        Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
 タイトル      De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
 雑誌        Nat Genet 40:782-8 (2008)
 DOI:10.1038/ng.150
 PMID:20493457 (SPTAN1)
 著者        Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N
 タイトル      Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
 雑誌        Am J Hum Genet 86:881-91 (2010)
 DOI:10.1016/j.ajhg.2010.04.013
 PMID:24776920 (SCN1A)
 著者        Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J
 タイトル      Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
 雑誌        Epileptic Disord 16:208-12 (2014)
 DOI:10.1684/epd.2014.0649
 PMID:12742592 (KCNQ2)
 著者        Dedek K, Fusco L, Teloy N, Steinlein OK
 タイトル      Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
 雑誌        Epilepsy Res 54:21-7 (2003)
 DOI:10.1016/s0920-1211(03)00037-8
 PMID:15215304 (ARHGEF9)
 著者        Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Luscher B, Rees MI, Harvey RJ
 タイトル      The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
 雑誌        J Neurosci 24:5816-26 (2004)
 DOI:10.1523/JNEUROSCI.1184-04.2004
 PMID:18469813 (PCDH19)
 著者        Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J
 タイトル      X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
 雑誌        Nat Genet 40:776-81 (2008)
 DOI:10.1038/ng.149
 PMID:20118933 (PNKP)
 著者        Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA
 タイトル      Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
 雑誌        Nat Genet 42:245-9 (2010)
 DOI:10.1038/ng.526
 PMID:15028761 (SCN2A)
 著者        Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K
 タイトル      A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
 雑誌        J Neurosci 24:2690-8 (2004)
 DOI:10.1523/JNEUROSCI.3089-03.2004
 PMID:20833646 (PLCB1)
 著者        Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER
 タイトル      Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
 雑誌        Brain 133:2964-70 (2010)
 DOI:10.1093/brain/awq238
 PMID:22365152 (SCN8A)
 著者        Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF
 タイトル      De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
 雑誌        Am J Hum Genet 90:502-10 (2012)
 DOI:10.1016/j.ajhg.2012.01.006
 PMID:23086397 (KCNT1)
 著者        Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
 タイトル      De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
 雑誌        Nat Genet 44:1255-9 (2012)
 DOI:10.1038/ng.2441
 PMID:23252400 (ST3GAL3)
 著者        Edvardson S, Baumann AM, Muhlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O
 タイトル      West syndrome caused by ST3Gal-III deficiency.
 雑誌        Epilepsia 54:e24-7 (2013)
 DOI:10.1111/epi.12050
 PMID:23526554 (TBC1D24)
 著者        Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
 タイトル      Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
 雑誌        Hum Mutat 34:869-72 (2013)
 DOI:10.1002/humu.22318
 PMID:23993195 (GNAO1)
 著者        Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H
 タイトル      De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
 雑誌        Am J Hum Genet 93:496-505 (2013)
 DOI:10.1016/j.ajhg.2013.07.014
 PMID:23932106 (SZT2)
 著者        Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nurnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
 タイトル      Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
 雑誌        Am J Hum Genet 93:524-9 (2013)
 DOI:10.1016/j.ajhg.2013.07.005
 PMID:24623842 (GABRA1)
 著者        Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC
 タイトル      GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
 雑誌        Neurology 82:1245-53 (2014)
 DOI:10.1212/WNL.0000000000000291
 PMID:24399846 (NECAP1)
 著者        Alazami AM, Hijazi H, Kentab AY, Alkuraya FS
 タイトル      NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
 雑誌        J Med Genet 51:224-8 (2014)
 DOI:10.1136/jmedgenet-2013-102030
 PMID:24115232 (SLC35A2)
 著者        Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
 タイトル      De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
 雑誌        Hum Mutat 34:1708-14 (2013)
 DOI:10.1002/humu.22446
 PMID:24814191 (DOCK7)
 著者        Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Decarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gerard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL
 タイトル      Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
 雑誌        Am J Hum Genet 94:891-7 (2014)
 DOI:10.1016/j.ajhg.2014.04.012
 PMID:24747641 (HCN1)
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 タイトル      De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
 雑誌        Nat Genet 46:640-5 (2014)
 DOI:10.1038/ng.2952
 PMID:24995870 (SLC13A5)
 著者        Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, Roubertie A, Heron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Riviere JB
 タイトル      Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
 雑誌        Am J Hum Genet 95:113-20 (2014)
 DOI:10.1016/j.ajhg.2014.06.006
 PMID:25164438 (KCNB1)
 著者        Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA
 タイトル      De novo KCNB1 mutations in epileptic encephalopathy.
 雑誌        Ann Neurol 76:529-40 (2014)
 DOI:10.1002/ana.24263
 PMID:24272827 (GRIN2B)
 著者        Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S
 タイトル      GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
 雑誌        Ann Neurol 75:147-54 (2014)
 DOI:10.1002/ana.24073
 PMID:24456803 (WWOX)
 著者        Abdel-Salam G, Thoenes M, Afifi HH, Korber F, Swan D, Bolz HJ
 タイトル      The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
 雑誌        Orphanet J Rare Dis 9:12 (2014)
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 PMID:25817015 (AARS)
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 タイトル      Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
 雑誌        Am J Hum Genet 96:675-81 (2015)
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 PMID:25839329 (SIK1)
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 タイトル      De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
 雑誌        Am J Hum Genet 96:682-90 (2015)
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 PMID:25262651 (DNM1 GABBR2)
 タイトル      De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
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 PMID:25751627 (KCNA2)
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 タイトル      De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
 雑誌        Nat Genet 47:393-399 (2015)
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 PMID:24697219 (EEF1A2)
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 タイトル      De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
 雑誌        Clin Genet 87:356-61 (2015)
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 PMID:26333769 (SLC12A5)
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 雑誌        Nat Commun 6:8038 (2015)
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 PMID:26224535 (ITPA)
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 タイトル      Recessive ITPA mutations cause an early infantile encephalopathy.
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 PMID:22492991 (ALG13)
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 タイトル      Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
 雑誌        Hum Mol Genet 21:4151-61 (2012)
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 PMID:27239025 (FRRS1L)
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 タイトル      Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
 雑誌        Clin Genet 90:282-3 (2016)
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 PMID:27270415 (ARV1)
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 タイトル      Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
 雑誌        Hum Mol Genet 25:3042-3054 (2016)
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 PMID:19641205 (SLC25A12)
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 タイトル      AGC1 deficiency associated with global cerebral hypomyelination.
 雑誌        N Engl J Med 361:489-95 (2009)
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 PMID:26486472 (GUF1)
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 タイトル      West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
 雑誌        Eur J Hum Genet 24:1001-8 (2016)
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 PMID:27476654 (SLC1A2 CACNA1A GABRB3)
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 タイトル      De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 99:287-98 (2016)
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 PMID:27545681 (UBA5)
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 タイトル      Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
 雑誌        Am J Hum Genet 99:695-703 (2016)
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 PMID:31618474 (GABRB1)
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 タイトル      The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
 雑誌        Ann Neurol 86:821-831 (2019)
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 PMID:27616483 (GRIN2D)
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 タイトル      GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
 雑誌        Am J Hum Genet 99:802-816 (2016)
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 PMID:27164707 (FGF12)
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 タイトル      Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
 雑誌        Neurology 86:2162-70 (2016)
 DOI:10.1212/WNL.0000000000002752
 PMID:27889060 (AP3B2)
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 タイトル      Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
 雑誌        Am J Hum Genet 99:1368-1376 (2016)
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 PMID:27866705 (DENND5A)
 著者        Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS
 タイトル      Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
 雑誌        Am J Hum Genet 99:1359-1367 (2016)
 DOI:10.1016/j.ajhg.2016.10.006
 PMID:28007989 (CAD)
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 タイトル      CAD mutations and uridine-responsive epileptic encephalopathy.
 雑誌        Brain 140:279-286 (2017)
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 PMID:27989324 (MDH2)
 著者        Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, Genin EC, Fragaki K, Volker-Touw CL, Vasnier C, Serre V, van Gassen KL, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MG, Jans JJ, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rotig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V
 タイトル      Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
 雑誌        Am J Hum Genet 100:151-159 (2017)
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 PMID:19710327 (SCN1B)
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 タイトル      A functional null mutation of SCN1B in a patient with Dravet syndrome.
 雑誌        J Neurosci 29:10764-78 (2009)
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 PMID:27435091 (SYNJ1)
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 タイトル      Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
 雑誌        Brain 139:2420-30 (2016)
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 PMID:23708187 (HNRNPU CHD2)
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 雑誌        Nat Genet 45:825-30 (2013)
 DOI:10.1038/ng.2646
 PMID:28334793 (PIGP)
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 タイトル      Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
 雑誌        Hum Mol Genet 26:1706-1715 (2017)
 DOI:10.1093/hmg/ddx077
 PMID:28777935 (YWHAG)
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 タイトル      De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
 雑誌        Am J Hum Genet 101:300-310 (2017)
 DOI:10.1016/j.ajhg.2017.07.004
 PMID:29069600 (KCNT2)
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 タイトル      A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
 雑誌        Cell Rep 21:926-933 (2017)
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 PMID:29100083 (NTRK2)
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 雑誌        Am J Hum Genet 101:664-685 (2017)
 DOI:10.1016/j.ajhg.2017.09.008
 PMID:29394991 (CNPY3)
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 タイトル      Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 102:321-329 (2018)
 DOI:10.1016/j.ajhg.2018.01.004
 PMID:27066583 (ADAM22)
 著者        Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lonnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE
 タイトル      Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
 雑誌        Neurol Genet 2:e46 (2016)
 DOI:10.1212/NXG.0000000000000046
 PMID:29466837 (SCN3A)
 著者        Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM
 タイトル      Mutations in SCN3A cause early infantile epileptic encephalopathy.
 雑誌        Ann Neurol 83:703-717 (2018)
 DOI:10.1002/ana.25188
 PMID:28422131 (CPLX1)
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 タイトル      Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
 雑誌        Eur J Hum Genet 25:889-893 (2017)
 DOI:10.1038/ejhg.2017.52
 PMID:29276004 (RHOBTB2)
 著者        Straub J, Konrad EDH, Gruner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Fliedner A, Gregor A, Sticht H, Zweier C
 タイトル      Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
 雑誌        Am J Hum Genet 102:44-57 (2018)
 DOI:10.1016/j.ajhg.2017.11.008
 PMID:29534297 (CYFIP2)
 著者        Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N
 タイトル      De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
 雑誌        Ann Neurol 83:794-806 (2018)
 DOI:10.1002/ana.25208
 PMID:29656858 (PACS2)
 著者        Olson HE, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Riviere JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C
 タイトル      A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
 雑誌        Am J Hum Genet 102:995-1007 (2018)
 DOI:10.1016/j.ajhg.2018.03.005
 PMID:29630738 (CUX2)
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 タイトル      The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
 雑誌        Ann Neurol 83:926-934 (2018)
 DOI:10.1002/ana.25222
 PMID:28364549 (TRAK1)
 著者        Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y
 タイトル      Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
 雑誌        Brain 140:568-581 (2017)
 DOI:10.1093/brain/awx002
 PMID:30343943 (CACNA1E)
 著者        Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC
 タイトル      De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
 雑誌        Am J Hum Genet 103:666-678 (2018)
 DOI:10.1016/j.ajhg.2018.09.006
 PMID:30256902 (PHACTR1)
 著者        Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI
 タイトル      De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
 雑誌        Brain 141:3098-3114 (2018)
 DOI:10.1093/brain/awy246
 PMID:30575854 (GLS)
 著者        Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
 タイトル      Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
 雑誌        JAMA Neurol 76:342-350 (2019)
 DOI:10.1001/jamaneurol.2018.2941
 PMID:30323019 (NEUROD2)
 著者        Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA
 タイトル      De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
 雑誌        J Med Genet 56:113-122 (2019)
 DOI:10.1136/jmedgenet-2018-105322
 PMID:30595371 (RNF13)
 著者        Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL
 タイトル      Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
 雑誌        Am J Hum Genet 104:179-185 (2019)
 DOI:10.1016/j.ajhg.2018.11.018
 PMID:27864268 (GABRG2)
 著者        Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL
 タイトル      De novo GABRG2 mutations associated with epileptic encephalopathies.
 雑誌        Brain 140:49-67 (2017)
 DOI:10.1093/brain/aww272
 PMID:29915213 (PARS2)
 著者        Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N
 タイトル      The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
 雑誌        J Hum Genet 63:971-980 (2018)
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 PMID:31031012 (ACTL6B)
 著者        Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
 タイトル      Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
 雑誌        Am J Hum Genet 104:815-834 (2019)
 DOI:10.1016/j.ajhg.2019.03.022
 PMID:32588908 (PIGQ)
 著者        Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM
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 雑誌        J Inherit Metab Dis 43:1321-1332 (2020)
 DOI:10.1002/jimd.12278
 PMID:29961870 (GABRA2 GABRA5)
 著者        Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A
 タイトル      De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
 雑誌        Brain 141:2392-2405 (2018)
 DOI:10.1093/brain/awy171
 PMID:31256876 (PIGB)
 著者        Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
 雑誌        Am J Hum Genet 105:384-394 (2019)
 DOI:10.1016/j.ajhg.2019.05.019
 PMID:31688942 (DMXL2)
 著者        Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedi S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R
 タイトル      Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
 雑誌        Brain 142:3876-3891 (2019)
 DOI:10.1093/brain/awz326
 PMID:31422819 (GOT2)
 著者        van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA
 タイトル      Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
 雑誌        Am J Hum Genet 105:534-548 (2019)
 DOI:10.1016/j.ajhg.2019.07.015
 PMID:31820119 (UGP2)
 著者        Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS
 タイトル      Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
 雑誌        Acta Neuropathol 139:415-442 (2020)
 DOI:10.1007/s00401-019-02109-6
 PMID:32001716 (UGDH)
 著者        Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot E, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schule R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schols L, Reversade B
 タイトル      Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
 雑誌        Nat Commun 11:595 (2020)
 DOI:10.1038/s41467-020-14360-7
 PMID:26358754 (SMC1A)
 著者        Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T
 タイトル      Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
 雑誌        Am J Med Genet A 167A:3076-81 (2015)
 DOI:10.1002/ajmg.a.37364
 PMID:32427860 (DALRD3)
 著者        Lentini JM, Alsaif HS, Faqeih E, Alkuraya FS, Fu D
 タイトル      DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.
 雑誌        Nat Commun 11:2510 (2020)
 DOI:10.1038/s41467-020-16321-6
 PMID:32330417 (CDK19)
 著者        Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B
 タイトル      De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 106:717-725 (2020)
 DOI:10.1016/j.ajhg.2020.04.001
 PMID:31538237 (MDH1)
 著者        Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS
 タイトル      MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
 雑誌        Hum Genet 138:1247-1257 (2019)
 DOI:10.1007/s00439-019-02063-z
 PMID:32282878 (GAD1)
 著者        Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H
 タイトル      Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
 雑誌        Brain 143:1447-1461 (2020)
 DOI:10.1093/brain/awaa085
 PMID:33245860 (FGF13)
 著者        Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X, Rees MI, Goldfarb M, Chung SK
 タイトル      Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
 雑誌        Am J Hum Genet 108:176-185 (2021)
 DOI:10.1016/j.ajhg.2020.10.017
 PMID:28942967 (PPP3CA)
 著者        Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
 タイトル      De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
 雑誌        Am J Hum Genet 101:516-524 (2017)
 DOI:10.1016/j.ajhg.2017.08.013
 PMID:27789573 (GABRB2)
 著者        Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S
 タイトル      A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
 雑誌        J Med Genet 54:202-211 (2017)
 DOI:10.1136/jmedgenet-2016-104083
 PMID:29668857 (ATP6V1A)
 著者        Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
 タイトル      De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
 雑誌        Brain 141:1703-1718 (2018)
 DOI:10.1093/brain/awy092
 PMID:30269814 (PIGS)
 著者        Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 103:602-611 (2018)
 DOI:10.1016/j.ajhg.2018.08.014
 PMID:31675180 (NSF)
 著者        Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T
 タイトル      De novo NSF mutations cause early infantile epileptic encephalopathy.
 雑誌        Ann Clin Transl Neurol 6:2334-2339 (2019)
 DOI:10.1002/acn3.50917
 PMID:33131106 (CELF2)
 著者        Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N
 タイトル      De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
 雑誌        Hum Mutat 42:66-76 (2021)
 DOI:10.1002/humu.24130
 PMID:33880529 (ATP1A2 ATP1A3)
 著者        Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Moller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R
 タイトル      ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
 雑誌        Brain 144:1435-1450 (2021)
 DOI:10.1093/brain/awab052","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>","早期乳児てんかん性脳症;
 発達性およびてんかん性脳症;
 大田原症候群
 下位グループ    ウエスト症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01460"">H01460</a>]
 レノックス・ガストー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01813"">H01813</a>]
 PCDH19 関連症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01775"">H01775</a>]
 遊走性焦点発作を伴う乳児てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01815"">H01815</a>]
 脳のミエリン形成不全 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01305"">H01305</a>]
 上位グループ    症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome.",,"(DEE1) ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]
 (DEE2) CDKL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6792"">6792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08824"">K08824</a>]
 (DEE3) SLC25A22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79751"">79751</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15107"">K15107</a>]
 (DEE4) STXBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6812"">6812</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15292"">K15292</a>]
 (DEE5) SPTAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6709"">6709</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06114"">K06114</a>]
 (DEE6B) SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]
 (DEE7) KCNQ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3785"">3785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04927"">K04927</a>]
 (DEE8) ARHGEF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23229"">23229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20686"">K20686</a>]
 (DEE9) PCDH19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57526"">57526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16499"">K16499</a>]
 (DEE10) PNKP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11284"">11284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08073"">K08073</a>]
 (DEE11) SCN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6326"">6326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04834"">K04834</a>]
 (DEE12) PLCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23236"">23236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05858"">K05858</a>]
 (DEE13) SCN8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6334"">6334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04840"">K04840</a>]
 (DEE14) KCNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57582"">57582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04946"">K04946</a>]
 (DEE15) ST3GAL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6487"">6487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00781"">K00781</a>]
 (DEE16) TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]
 (DEE17) GNAO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2775"">2775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04534"">K04534</a>]
 (DEE18) SZT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23334"">23334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23298"">K23298</a>]
 (DEE19) GABRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2554"">2554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (DEE21) NECAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25977"">25977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20069"">K20069</a>]
 (DEE22) SLC35A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7355"">7355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15272"">K15272</a>]
 (DEE23) DOCK7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85440"">85440</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21852"">K21852</a>]
 (DEE24) HCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348980"">348980</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04954"">K04954</a>]
 (DEE25) SLC13A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284111"">284111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14445"">K14445</a>]
 (DEE26) KCNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3745"">3745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04885"">K04885</a>]
 (DEE27) GRIN2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2904"">2904</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05210"">K05210</a>]
 (DEE28) WWOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51741"">51741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19329"">K19329</a>]
 (DEE29) AARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:16"">16</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]
 (DEE30) SIK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:150094"">150094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19008"">K19008</a>]
 (DEE31) DNM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1759"">1759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01528"">K01528</a>]
 (DEE32) KCNA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3737"">3737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04875"">K04875</a>]
 (DEE33) EEF1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1917"">1917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03231"">K03231</a>]
 (DEE34) SLC12A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57468"">57468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23967"">K23967</a>]
 (DEE35) ITPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3704"">3704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01519"">K01519</a>]
 (DEE36) ALG13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79868"">79868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07432"">K07432</a>]
 (DEE37) FRRS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23732"">23732</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25381"">K25381</a>]
 (DEE38) ARV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64801"">64801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21848"">K21848</a>]
 (DEE39) SLC25A12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8604"">8604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15105"">K15105</a>]
 (DEE40) GUF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60558"">60558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21594"">K21594</a>]
 (DEE41) SLC1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6506"">6506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05613"">K05613</a>]
 (DEE42) CACNA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:773"">773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04344"">K04344</a>]
 (DEE43) GABRB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2562"">2562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05181"">K05181</a>]
 (DEE44) UBA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79876"">79876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12164"">K12164</a>]
 (DEE45) GABRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2560"">2560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05181"">K05181</a>]
 (DEE46) GRIN2D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2906"">2906</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05212"">K05212</a>]
 (DEE47) FGF12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2257"">2257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22413"">K22413</a>]
 (DEE48) AP3B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8120"">8120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12397"">K12397</a>]
 (DEE49) DENND5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23258"">23258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20164"">K20164</a>]
 (DEE50) CAD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:790"">790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11540"">K11540</a>]
 (DEE51) MDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4191"">4191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00026"">K00026</a>]
 (DEE52) SCN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6324"">6324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04845"">K04845</a>]
 (DEE53) SYNJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8867"">8867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20279"">K20279</a>]
 (DEE54) HNRNPU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3192"">3192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12888"">K12888</a>]
 (DEE55) PIGP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51227"">51227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03861"">K03861</a>]
 (DEE56) YWHAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7532"">7532</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16198"">K16198</a>]
 (DEE57) KCNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:343450"">343450</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04947"">K04947</a>]
 (DEE58) NTRK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4915"">4915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04360"">K04360</a>]
 (DEE59) GABBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9568"">9568</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04615"">K04615</a>]
 (DEE60) CNPY3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10695"">10695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22816"">K22816</a>]
 (DEE61) ADAM22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53616"">53616</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16068"">K16068</a>]
 (DEE62) SCN3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6328"">6328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04836"">K04836</a>]
 (DEE63) CPLX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10815"">10815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15294"">K15294</a>]
 (DEE64) RHOBTB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23221"">23221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07868"">K07868</a>]
 (DEE65) CYFIP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26999"">26999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05749"">K05749</a>]
 (DEE66) PACS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23241"">23241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23294"">K23294</a>]
 (DEE67) CUX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23316"">23316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09313"">K09313</a>]
 (DEE68) TRAK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22906"">22906</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15369"">K15369</a>]
 (DEE69) CACNA1E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:777"">777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04852"">K04852</a>]
 (DEE70) PHACTR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221692"">221692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17594"">K17594</a>]
 (DEE71) GLS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2744"">2744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01425"">K01425</a>]
 (DEE72) NEUROD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4761"">4761</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09078"">K09078</a>]
 (DEE73) RNF13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11342"">11342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15692"">K15692</a>]
 (DEE74) GABRG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2566"">2566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05186"">K05186</a>]
 (DEE75) PARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25973"">25973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01881"">K01881</a>]
 (DEE76) ACTL6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51412"">51412</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11652"">K11652</a>]
 (DEE77) PIGQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9091"">9091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03860"">K03860</a>]
 (DEE78) GABRA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2555"">2555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (DEE79) GABRA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2558"">2558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (DEE80) PIGB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9488"">9488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05286"">K05286</a>]
 (DEE81) DMXL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23312"">23312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24155"">K24155</a>]
 (DEE82) GOT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2806"">2806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14455"">K14455</a>]
 (DEE83) UGP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7360"">7360</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00963"">K00963</a>]
 (DEE84) UGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7358"">7358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00012"">K00012</a>]
 (DEE85) SMC1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8243"">8243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06636"">K06636</a>]
 (DEE86) DALRD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55152"">55152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24973"">K24973</a>]
 (DEE87) CDK19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23097"">23097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02208"">K02208</a>]
 (DEE88) MDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4190"">4190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00025"">K00025</a>]
 (DEE89) GAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2571"">2571</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01580"">K01580</a>]
 (DEE90) FGF13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2258"">2258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22413"">K22413</a>]
 (DEE91) PPP3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5530"">5530</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04348"">K04348</a>]
 (DEE92) GABRB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2561"">2561</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05181"">K05181</a>]
 (DEE93) ATP6V1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:523"">523</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02145"">K02145</a>]
 (DEE94) CHD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1106"">1106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20091"">K20091</a>]
 (DEE95) PIGS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94005"">94005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05291"">K05291</a>]
 (DEE96) NSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4905"">4905</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06027"">K06027</a>]
 (DEE97) CELF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10659"">10659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13207"">K13207</a>]
 (DEE98) ATP1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:477"">477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 (DEE99) ATP1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:478"">478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538670"">C538670</a>
 OMIM: <a href=""https://www.omim.org/entry/308350"">308350</a> <a href=""https://www.omim.org/entry/300672"">300672</a> <a href=""https://www.omim.org/entry/609304"">609304</a> <a href=""https://www.omim.org/entry/612164"">612164</a> <a href=""https://www.omim.org/entry/613477"">613477</a> <a href=""https://www.omim.org/entry/619317"">619317</a> <a href=""https://www.omim.org/entry/613720"">613720</a> <a href=""https://www.omim.org/entry/300607"">300607</a> <a href=""https://www.omim.org/entry/300088"">300088</a> <a href=""https://www.omim.org/entry/613402"">613402</a> <a href=""https://www.omim.org/entry/613721"">613721</a> <a href=""https://www.omim.org/entry/613722"">613722</a> <a href=""https://www.omim.org/entry/614558"">614558</a> <a href=""https://www.omim.org/entry/614959"">614959</a> <a href=""https://www.omim.org/entry/615006"">615006</a> <a href=""https://www.omim.org/entry/615338"">615338</a> <a href=""https://www.omim.org/entry/615473"">615473</a> <a href=""https://www.omim.org/entry/615476"">615476</a> <a href=""https://www.omim.org/entry/615744"">615744</a> <a href=""https://www.omim.org/entry/615833"">615833</a> <a href=""https://www.omim.org/entry/300896"">300896</a> <a href=""https://www.omim.org/entry/615859"">615859</a> <a href=""https://www.omim.org/entry/615871"">615871</a> <a href=""https://www.omim.org/entry/615905"">615905</a> <a href=""https://www.omim.org/entry/616056"">616056</a> <a href=""https://www.omim.org/entry/616139"">616139</a> <a href=""https://www.omim.org/entry/616211"">616211</a> <a href=""https://www.omim.org/entry/616339"">616339</a> <a href=""https://www.omim.org/entry/616341"">616341</a> <a href=""https://www.omim.org/entry/616346"">616346</a> <a href=""https://www.omim.org/entry/616366"">616366</a> <a href=""https://www.omim.org/entry/616409"">616409</a> <a href=""https://www.omim.org/entry/616645"">616645</a> <a href=""https://www.omim.org/entry/616647"">616647</a> <a href=""https://www.omim.org/entry/300884"">300884</a> <a href=""https://www.omim.org/entry/616981"">616981</a> <a href=""https://www.omim.org/entry/617020"">617020</a> <a href=""https://www.omim.org/entry/612949"">612949</a> <a href=""https://www.omim.org/entry/617065"">617065</a> <a href=""https://www.omim.org/entry/617105"">617105</a> <a href=""https://www.omim.org/entry/617106"">617106</a> <a href=""https://www.omim.org/entry/617113"">617113</a> <a href=""https://www.omim.org/entry/617132"">617132</a> <a href=""https://www.omim.org/entry/617153"">617153</a> <a href=""https://www.omim.org/entry/617162"">617162</a> <a href=""https://www.omim.org/entry/617166"">617166</a> <a href=""https://www.omim.org/entry/617276"">617276</a> <a href=""https://www.omim.org/entry/617281"">617281</a> <a href=""https://www.omim.org/entry/114010"">114010</a> <a href=""https://www.omim.org/entry/617339"">617339</a> <a href=""https://www.omim.org/entry/617350"">617350</a> <a href=""https://www.omim.org/entry/617389"">617389</a> <a href=""https://www.omim.org/entry/617391"">617391</a> <a href=""https://www.omim.org/entry/617904"">617904</a> <a href=""https://www.omim.org/entry/617771"">617771</a> <a href=""https://www.omim.org/entry/617830"">617830</a> <a href=""https://www.omim.org/entry/617904"">617904</a> <a href=""https://www.omim.org/entry/617599"">617599</a> <a href=""https://www.omim.org/entry/617665"">617665</a> <a href=""https://www.omim.org/entry/617929"">617929</a> <a href=""https://www.omim.org/entry/617933"">617933</a> <a href=""https://www.omim.org/entry/617938"">617938</a> <a href=""https://www.omim.org/entry/617976"">617976</a> <a href=""https://www.omim.org/entry/618004"">618004</a> <a href=""https://www.omim.org/entry/618008"">618008</a> <a href=""https://www.omim.org/entry/618067"">618067</a> <a href=""https://www.omim.org/entry/618141"">618141</a> <a href=""https://www.omim.org/entry/618201"">618201</a> <a href=""https://www.omim.org/entry/618285"">618285</a> <a href=""https://www.omim.org/entry/618298"">618298</a> <a href=""https://www.omim.org/entry/618328"">618328</a> <a href=""https://www.omim.org/entry/618374"">618374</a> <a href=""https://www.omim.org/entry/618379"">618379</a> <a href=""https://www.omim.org/entry/618396"">618396</a> <a href=""https://www.omim.org/entry/618437"">618437</a> <a href=""https://www.omim.org/entry/618468"">618468</a> <a href=""https://www.omim.org/entry/618548"">618548</a> <a href=""https://www.omim.org/entry/618557"">618557</a> <a href=""https://www.omim.org/entry/618559"">618559</a> <a href=""https://www.omim.org/entry/618580"">618580</a> <a href=""https://www.omim.org/entry/618663"">618663</a> <a href=""https://www.omim.org/entry/618721"">618721</a> <a href=""https://www.omim.org/entry/618744"">618744</a> <a href=""https://www.omim.org/entry/618792"">618792</a> <a href=""https://www.omim.org/entry/301044"">301044</a> <a href=""https://www.omim.org/entry/618910"">618910</a> <a href=""https://www.omim.org/entry/618916"">618916</a> <a href=""https://www.omim.org/entry/618959"">618959</a> <a href=""https://www.omim.org/entry/619124"">619124</a> <a href=""https://www.omim.org/entry/301058"">301058</a> <a href=""https://www.omim.org/entry/617711"">617711</a> <a href=""https://www.omim.org/entry/617829"">617829</a> <a href=""https://www.omim.org/entry/618012"">618012</a> <a href=""https://www.omim.org/entry/615369"">615369</a> <a href=""https://www.omim.org/entry/618143"">618143</a> <a href=""https://www.omim.org/entry/619340"">619340</a> <a href=""https://www.omim.org/entry/619561"">619561</a> <a href=""https://www.omim.org/entry/619605"">619605</a> <a href=""https://www.omim.org/entry/619606"">619606</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14734930"">14734930</a>
 著者        Ohtahara S, Yamatogi Y
 タイトル      Epileptic encephalopathies in early infancy with suppression-burst.
 雑誌        J Clin Neurophysiol 20:398-407 (2003)
 DOI:<a href=""https://doi.org/10.1097/00004691-200311000-00003"">10.1097/00004691-200311000-00003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16829045"">16829045</a>
 著者        Ohtahara S, Yamatogi Y
 タイトル      Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
 雑誌        Epilepsy Res 70 Suppl 1:S58-67 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2005.11.021"">10.1016/j.eplepsyres.2005.11.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11751020"">11751020</a>
 著者        Yamatogi Y, Ohtahara S
 タイトル      Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases.
 雑誌        Brain Dev 24:13-23 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0387-7604(01)00392-8"">10.1016/S0387-7604(01)00392-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26517219"">26517219</a>
 著者        Gonsales MC, Montenegro MA, Soler CV, Coan AC, Guerreiro MM, Lopes-Cendes I
 タイトル      Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.
 雑誌        Arq Neuropsiquiatr 73:946-58 (2015)
 DOI:<a href=""https://doi.org/10.1590/0004-282X20150122"">10.1590/0004-282X20150122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26597089"">26597089</a>
 著者        McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE
 タイトル      The genetic landscape of the epileptic encephalopathies of infancy and childhood.
 雑誌        Lancet Neurol 15:304-16 (2016)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(15)00250-1"">10.1016/S1474-4422(15)00250-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11889467"">11889467</a> (ARX)
 著者        Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J
 タイトル      Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
 雑誌        Nat Genet 30:441-5 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng862"">10.1038/ng862</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15492925"">15492925</a> (CDKL5)
 著者        Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J
 タイトル      Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
 雑誌        Am J Hum Genet 75:1079-93 (2004)
 DOI:<a href=""https://doi.org/10.1086/426462"">10.1086/426462</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15592994"">15592994</a> (SLC25A22)
 著者        Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L
 タイトル      Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
 雑誌        Am J Hum Genet 76:334-9 (2005)
 DOI:<a href=""https://doi.org/10.1086/427564"">10.1086/427564</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18469812"">18469812</a> (STXBP1)
 著者        Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
 タイトル      De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
 雑誌        Nat Genet 40:782-8 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.150"">10.1038/ng.150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20493457"">20493457</a> (SPTAN1)
 著者        Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N
 タイトル      Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
 雑誌        Am J Hum Genet 86:881-91 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.013"">10.1016/j.ajhg.2010.04.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24776920"">24776920</a> (SCN1A)
 著者        Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J
 タイトル      Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
 雑誌        Epileptic Disord 16:208-12 (2014)
 DOI:<a href=""https://doi.org/10.1684/epd.2014.0649"">10.1684/epd.2014.0649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12742592"">12742592</a> (KCNQ2)
 著者        Dedek K, Fusco L, Teloy N, Steinlein OK
 タイトル      Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
 雑誌        Epilepsy Res 54:21-7 (2003)
 DOI:<a href=""https://doi.org/10.1016/s0920-1211(03)00037-8"">10.1016/s0920-1211(03)00037-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15215304"">15215304</a> (ARHGEF9)
 著者        Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Luscher B, Rees MI, Harvey RJ
 タイトル      The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
 雑誌        J Neurosci 24:5816-26 (2004)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.1184-04.2004"">10.1523/JNEUROSCI.1184-04.2004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18469813"">18469813</a> (PCDH19)
 著者        Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J
 タイトル      X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
 雑誌        Nat Genet 40:776-81 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.149"">10.1038/ng.149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20118933"">20118933</a> (PNKP)
 著者        Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA
 タイトル      Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
 雑誌        Nat Genet 42:245-9 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.526"">10.1038/ng.526</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15028761"">15028761</a> (SCN2A)
 著者        Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K
 タイトル      A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
 雑誌        J Neurosci 24:2690-8 (2004)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.3089-03.2004"">10.1523/JNEUROSCI.3089-03.2004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20833646"">20833646</a> (PLCB1)
 著者        Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER
 タイトル      Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
 雑誌        Brain 133:2964-70 (2010)
 DOI:<a href=""https://doi.org/10.1093/brain/awq238"">10.1093/brain/awq238</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22365152"">22365152</a> (SCN8A)
 著者        Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF
 タイトル      De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
 雑誌        Am J Hum Genet 90:502-10 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.01.006"">10.1016/j.ajhg.2012.01.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23086397"">23086397</a> (KCNT1)
 著者        Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
 タイトル      De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
 雑誌        Nat Genet 44:1255-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2441"">10.1038/ng.2441</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23252400"">23252400</a> (ST3GAL3)
 著者        Edvardson S, Baumann AM, Muhlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O
 タイトル      West syndrome caused by ST3Gal-III deficiency.
 雑誌        Epilepsia 54:e24-7 (2013)
 DOI:<a href=""https://doi.org/10.1111/epi.12050"">10.1111/epi.12050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23526554"">23526554</a> (TBC1D24)
 著者        Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
 タイトル      Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
 雑誌        Hum Mutat 34:869-72 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22318"">10.1002/humu.22318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23993195"">23993195</a> (GNAO1)
 著者        Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H
 タイトル      De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
 雑誌        Am J Hum Genet 93:496-505 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.014"">10.1016/j.ajhg.2013.07.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23932106"">23932106</a> (SZT2)
 著者        Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nurnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
 タイトル      Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
 雑誌        Am J Hum Genet 93:524-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.005"">10.1016/j.ajhg.2013.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24623842"">24623842</a> (GABRA1)
 著者        Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC
 タイトル      GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
 雑誌        Neurology 82:1245-53 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000291"">10.1212/WNL.0000000000000291</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24399846"">24399846</a> (NECAP1)
 著者        Alazami AM, Hijazi H, Kentab AY, Alkuraya FS
 タイトル      NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
 雑誌        J Med Genet 51:224-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102030"">10.1136/jmedgenet-2013-102030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24115232"">24115232</a> (SLC35A2)
 著者        Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
 タイトル      De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
 雑誌        Hum Mutat 34:1708-14 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22446"">10.1002/humu.22446</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24814191"">24814191</a> (DOCK7)
 著者        Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Decarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gerard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL
 タイトル      Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
 雑誌        Am J Hum Genet 94:891-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.012"">10.1016/j.ajhg.2014.04.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24747641"">24747641</a> (HCN1)
 著者        Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cances C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP, Haaf T, LeGuern E, Depienne C
 タイトル      De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
 雑誌        Nat Genet 46:640-5 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2952"">10.1038/ng.2952</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24995870"">24995870</a> (SLC13A5)
 著者        Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, Roubertie A, Heron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Riviere JB
 タイトル      Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
 雑誌        Am J Hum Genet 95:113-20 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.06.006"">10.1016/j.ajhg.2014.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25164438"">25164438</a> (KCNB1)
 著者        Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA
 タイトル      De novo KCNB1 mutations in epileptic encephalopathy.
 雑誌        Ann Neurol 76:529-40 (2014)
 DOI:<a href=""https://doi.org/10.1002/ana.24263"">10.1002/ana.24263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24272827"">24272827</a> (GRIN2B)
 著者        Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S
 タイトル      GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
 雑誌        Ann Neurol 75:147-54 (2014)
 DOI:<a href=""https://doi.org/10.1002/ana.24073"">10.1002/ana.24073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24456803"">24456803</a> (WWOX)
 著者        Abdel-Salam G, Thoenes M, Afifi HH, Korber F, Swan D, Bolz HJ
 タイトル      The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
 雑誌        Orphanet J Rare Dis 9:12 (2014)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-9-12"">10.1186/1750-1172-9-12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25817015"">25817015</a> (AARS)
 著者        Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A
 タイトル      Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
 雑誌        Am J Hum Genet 96:675-81 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.012"">10.1016/j.ajhg.2015.02.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25839329"">25839329</a> (SIK1)
 著者        Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR
 タイトル      De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
 雑誌        Am J Hum Genet 96:682-90 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.013"">10.1016/j.ajhg.2015.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25262651"">25262651</a> (DNM1 <a href=""https://pubmed.ncbi.nlm.nih.gov/GABBR2)"">GABBR2)</a>
 タイトル      De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
 雑誌        Am J Hum Genet 95:360-70 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.08.013"">10.1016/j.ajhg.2014.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25751627"">25751627</a> (KCNA2)
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 タイトル      De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
 雑誌        Nat Genet 47:393-399 (2015)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24697219"">24697219</a> (EEF1A2)
 著者        Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N
 タイトル      De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
 雑誌        Clin Genet 87:356-61 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12394"">10.1111/cge.12394</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26333769"">26333769</a> (SLC12A5)
 著者        Stodberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiold S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA
 タイトル      Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
 雑誌        Nat Commun 6:8038 (2015)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26224535"">26224535</a> (ITPA)
 著者        Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS
 タイトル      Recessive ITPA mutations cause an early infantile encephalopathy.
 雑誌        Ann Neurol 78:649-58 (2015)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22492991"">22492991</a> (ALG13)
 著者        Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ
 タイトル      Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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 DOI:<a href=""https://doi.org/10.1093/hmg/dds123"">10.1093/hmg/dds123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27239025"">27239025</a> (FRRS1L)
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 タイトル      Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
 雑誌        Clin Genet 90:282-3 (2016)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27270415"">27270415</a> (ARV1)
 著者        Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR
 タイトル      Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
 雑誌        Hum Mol Genet 25:3042-3054 (2016)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19641205"">19641205</a> (SLC25A12)
 著者        Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A
 タイトル      AGC1 deficiency associated with global cerebral hypomyelination.
 雑誌        N Engl J Med 361:489-95 (2009)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26486472"">26486472</a> (GUF1)
 著者        Alfaiz AA, Muller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A
 タイトル      West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
 雑誌        Eur J Hum Genet 24:1001-8 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.227"">10.1038/ejhg.2015.227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476654"">27476654</a> (SLC1A2 <a href=""https://pubmed.ncbi.nlm.nih.gov/CACNA1A"">CACNA1A</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GABRB3)"">GABRB3)</a>
 著者        Myers CT, McMahon JM, Schneider AL, Petrovski S
 タイトル      De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 99:287-98 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.003"">10.1016/j.ajhg.2016.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27545681"">27545681</a> (UBA5)
 著者        Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denomme AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D
 タイトル      Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
 雑誌        Am J Hum Genet 99:695-703 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.030"">10.1016/j.ajhg.2016.06.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31618474"">31618474</a> (GABRB1)
 著者        Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
 タイトル      The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
 雑誌        Ann Neurol 86:821-831 (2019)
 DOI:<a href=""https://doi.org/10.1002/ana.25619"">10.1002/ana.25619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616483"">27616483</a> (GRIN2D)
 著者        Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stulpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hortnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ
 タイトル      GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
 雑誌        Am J Hum Genet 99:802-816 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.013"">10.1016/j.ajhg.2016.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27164707"">27164707</a> (FGF12)
 著者        Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, de Witte PA, Van Esch H, Goldfarb M, Buyse GM
 タイトル      Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
 雑誌        Neurology 86:2162-70 (2016)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000002752"">10.1212/WNL.0000000000002752</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27889060"">27889060</a> (AP3B2)
 著者        Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Riviere JB, Faivre L, Thevenon J
 タイトル      Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
 雑誌        Am J Hum Genet 99:1368-1376 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.10.009"">10.1016/j.ajhg.2016.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27866705"">27866705</a> (DENND5A)
 著者        Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS
 タイトル      Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
 雑誌        Am J Hum Genet 99:1359-1367 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.10.006"">10.1016/j.ajhg.2016.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28007989"">28007989</a> (CAD)
 著者        Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
 タイトル      CAD mutations and uridine-responsive epileptic encephalopathy.
 雑誌        Brain 140:279-286 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/aww300"">10.1093/brain/aww300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27989324"">27989324</a> (MDH2)
 著者        Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, Genin EC, Fragaki K, Volker-Touw CL, Vasnier C, Serre V, van Gassen KL, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MG, Jans JJ, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rotig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V
 タイトル      Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
 雑誌        Am J Hum Genet 100:151-159 (2017)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19710327"">19710327</a> (SCN1B)
 著者        Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL
 タイトル      A functional null mutation of SCN1B in a patient with Dravet syndrome.
 雑誌        J Neurosci 29:10764-78 (2009)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.2475-09.2009"">10.1523/JNEUROSCI.2475-09.2009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27435091"">27435091</a> (SYNJ1)
 著者        Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djemie T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S
 タイトル      Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
 雑誌        Brain 139:2420-30 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/aww180"">10.1093/brain/aww180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23708187"">23708187</a> (HNRNPU <a href=""https://pubmed.ncbi.nlm.nih.gov/CHD2)"">CHD2)</a>
 著者        Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Moller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC
 タイトル      Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
 雑誌        Nat Genet 45:825-30 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2646"">10.1038/ng.2646</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28334793"">28334793</a> (PIGP)
 著者        Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM
 タイトル      Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
 雑誌        Hum Mol Genet 26:1706-1715 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx077"">10.1093/hmg/ddx077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28777935"">28777935</a> (YWHAG)
 著者        Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI, Suri M, Elmslie F, Simon MEH, van Gassen KLI, Heron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ
 タイトル      De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
 雑誌        Am J Hum Genet 101:300-310 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.004"">10.1016/j.ajhg.2017.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29069600"">29069600</a> (KCNT2)
 著者        Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A
 タイトル      A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
 雑誌        Cell Rep 21:926-933 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.celrep.2017.09.088"">10.1016/j.celrep.2017.09.088</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100083"">29100083</a> (NTRK2)
 著者        Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL
 タイトル      High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 101:664-685 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.008"">10.1016/j.ajhg.2017.09.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29394991"">29394991</a> (CNPY3)
 著者        Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H
 タイトル      Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 102:321-329 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.01.004"">10.1016/j.ajhg.2018.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27066583"">27066583</a> (ADAM22)
 著者        Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lonnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE
 タイトル      Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
 雑誌        Neurol Genet 2:e46 (2016)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000046"">10.1212/NXG.0000000000000046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29466837"">29466837</a> (SCN3A)
 著者        Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM
 タイトル      Mutations in SCN3A cause early infantile epileptic encephalopathy.
 雑誌        Ann Neurol 83:703-717 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25188"">10.1002/ana.25188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28422131"">28422131</a> (CPLX1)
 著者        Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Kuchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Ludecke HJ, Wieczorek D
 タイトル      Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
 雑誌        Eur J Hum Genet 25:889-893 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.52"">10.1038/ejhg.2017.52</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29276004"">29276004</a> (RHOBTB2)
 著者        Straub J, Konrad EDH, Gruner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Fliedner A, Gregor A, Sticht H, Zweier C
 タイトル      Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
 雑誌        Am J Hum Genet 102:44-57 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.11.008"">10.1016/j.ajhg.2017.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29534297"">29534297</a> (CYFIP2)
 著者        Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N
 タイトル      De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
 雑誌        Ann Neurol 83:794-806 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25208"">10.1002/ana.25208</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29656858"">29656858</a> (PACS2)
 著者        Olson HE, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Riviere JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C
 タイトル      A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
 雑誌        Am J Hum Genet 102:995-1007 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.03.005"">10.1016/j.ajhg.2018.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29630738"">29630738</a> (CUX2)
 著者        Chatron N, Moller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G
 タイトル      The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
 雑誌        Ann Neurol 83:926-934 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25222"">10.1002/ana.25222</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28364549"">28364549</a> (TRAK1)
 著者        Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y
 タイトル      Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
 雑誌        Brain 140:568-581 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx002"">10.1093/brain/awx002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30343943"">30343943</a> (CACNA1E)
 著者        Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC
 タイトル      De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
 雑誌        Am J Hum Genet 103:666-678 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.09.006"">10.1016/j.ajhg.2018.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30256902"">30256902</a> (PHACTR1)
 著者        Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI
 タイトル      De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
 雑誌        Brain 141:3098-3114 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy246"">10.1093/brain/awy246</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30575854"">30575854</a> (GLS)
 著者        Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
 タイトル      Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
 雑誌        JAMA Neurol 76:342-350 (2019)
 DOI:<a href=""https://doi.org/10.1001/jamaneurol.2018.2941"">10.1001/jamaneurol.2018.2941</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30323019"">30323019</a> (NEUROD2)
 著者        Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA
 タイトル      De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
 雑誌        J Med Genet 56:113-122 (2019)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105322"">10.1136/jmedgenet-2018-105322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30595371"">30595371</a> (RNF13)
 著者        Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL
 タイトル      Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
 雑誌        Am J Hum Genet 104:179-185 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.11.018"">10.1016/j.ajhg.2018.11.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27864268"">27864268</a> (GABRG2)
 著者        Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL
 タイトル      De novo GABRG2 mutations associated with epileptic encephalopathies.
 雑誌        Brain 140:49-67 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/aww272"">10.1093/brain/aww272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29915213"">29915213</a> (PARS2)
 著者        Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N
 タイトル      The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
 雑誌        J Hum Genet 63:971-980 (2018)
 DOI:<a href=""https://doi.org/10.1038/s10038-018-0478-z"">10.1038/s10038-018-0478-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31031012"">31031012</a> (ACTL6B)
 著者        Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
 タイトル      Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
 雑誌        Am J Hum Genet 104:815-834 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.03.022"">10.1016/j.ajhg.2019.03.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32588908"">32588908</a> (PIGQ)
 著者        Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM
 タイトル      Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
 雑誌        J Inherit Metab Dis 43:1321-1332 (2020)
 DOI:<a href=""https://doi.org/10.1002/jimd.12278"">10.1002/jimd.12278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29961870"">29961870</a> (GABRA2 <a href=""https://pubmed.ncbi.nlm.nih.gov/GABRA5)"">GABRA5)</a>
 著者        Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A
 タイトル      De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
 雑誌        Brain 141:2392-2405 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy171"">10.1093/brain/awy171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31256876"">31256876</a> (PIGB)
 著者        Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
 雑誌        Am J Hum Genet 105:384-394 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.05.019"">10.1016/j.ajhg.2019.05.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31688942"">31688942</a> (DMXL2)
 著者        Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedi S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R
 タイトル      Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
 雑誌        Brain 142:3876-3891 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz326"">10.1093/brain/awz326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31422819"">31422819</a> (GOT2)
 著者        van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drogemoller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA
 タイトル      Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
 雑誌        Am J Hum Genet 105:534-548 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.07.015"">10.1016/j.ajhg.2019.07.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31820119"">31820119</a> (UGP2)
 著者        Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS
 タイトル      Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
 雑誌        Acta Neuropathol 139:415-442 (2020)
 DOI:<a href=""https://doi.org/10.1007/s00401-019-02109-6"">10.1007/s00401-019-02109-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32001716"">32001716</a> (UGDH)
 著者        Hengel H, Bosso-Lefevre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot E, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schule R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schols L, Reversade B
 タイトル      Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
 雑誌        Nat Commun 11:595 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-14360-7"">10.1038/s41467-020-14360-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26358754"">26358754</a> (SMC1A)
 著者        Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T
 タイトル      Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
 雑誌        Am J Med Genet A 167A:3076-81 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37364"">10.1002/ajmg.a.37364</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32427860"">32427860</a> (DALRD3)
 著者        Lentini JM, Alsaif HS, Faqeih E, Alkuraya FS, Fu D
 タイトル      DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.
 雑誌        Nat Commun 11:2510 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-16321-6"">10.1038/s41467-020-16321-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32330417"">32330417</a> (CDK19)
 著者        Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B
 タイトル      De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 106:717-725 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.04.001"">10.1016/j.ajhg.2020.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31538237"">31538237</a> (MDH1)
 著者        Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS
 タイトル      MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
 雑誌        Hum Genet 138:1247-1257 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00439-019-02063-z"">10.1007/s00439-019-02063-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32282878"">32282878</a> (GAD1)
 著者        Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H
 タイトル      Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
 雑誌        Brain 143:1447-1461 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa085"">10.1093/brain/awaa085</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33245860"">33245860</a> (FGF13)
 著者        Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X, Rees MI, Goldfarb M, Chung SK
 タイトル      Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
 雑誌        Am J Hum Genet 108:176-185 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.10.017"">10.1016/j.ajhg.2020.10.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28942967"">28942967</a> (PPP3CA)
 著者        Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
 タイトル      De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
 雑誌        Am J Hum Genet 101:516-524 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.013"">10.1016/j.ajhg.2017.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27789573"">27789573</a> (GABRB2)
 著者        Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S
 タイトル      A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
 雑誌        J Med Genet 54:202-211 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104083"">10.1136/jmedgenet-2016-104083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29668857"">29668857</a> (ATP6V1A)
 著者        Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
 タイトル      De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
 雑誌        Brain 141:1703-1718 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy092"">10.1093/brain/awy092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30269814"">30269814</a> (PIGS)
 著者        Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 103:602-611 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.08.014"">10.1016/j.ajhg.2018.08.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31675180"">31675180</a> (NSF)
 著者        Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T
 タイトル      De novo NSF mutations cause early infantile epileptic encephalopathy.
 雑誌        Ann Clin Transl Neurol 6:2334-2339 (2019)
 DOI:<a href=""https://doi.org/10.1002/acn3.50917"">10.1002/acn3.50917</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33131106"">33131106</a> (CELF2)
 著者        Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N
 タイトル      De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
 雑誌        Hum Mutat 42:66-76 (2021)
 DOI:<a href=""https://doi.org/10.1002/humu.24130"">10.1002/humu.24130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33880529"">33880529</a> (ATP1A2 <a href=""https://pubmed.ncbi.nlm.nih.gov/ATP1A3)"">ATP1A3)</a>
 著者        Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Moller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R
 タイトル      ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
 雑誌        Brain 144:1435-1450 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awab052"">10.1093/brain/awab052</a>"
H00607,"46,XY 性腺形成不全症
 下位グループ    屈曲肢異形成 [DS:H00442]
 Frasier 症候群 (FS)
 Denys-Drash 症候群 (DDS)",,,"Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.",生殖系疾患,,"(SRXY1) SRY [HSA:6736] [KO:K09266]
 (SRXY2) NR0B1 [HSA:190] [KO:K08562]
 (SRXY3) NR5A1 [HSA:2516] [KO:K08560]
 (SRXY5) CBX2 [HSA:84733] [KO:K11451]
 (SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
 (SRXY7) DHH [HSA:50846] [KO:K11990]
 (SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
 (SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
 (SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
 (SRXY11) DHX37 [HSA:57647] [KO:K14780]
 (FS/DDS) WT1 [HSA:7490] [KO:K09234]",,,,,,"ICD-11: LD2A.1
 ICD-10: Q99.1
 MeSH: D006061
 OMIM: 400044 300018 612965 613080 613762 233420 607080 614279 616067 273250 136680 194080","PMID:18279784
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:10.1016/j.beem.2007.11.001
 PMID:25813279
 著者        Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R
 タイトル      Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
 雑誌        Fertil Steril 103:1297-304 (2015)
 DOI:10.1016/j.fertnstert.2015.01.043
 PMID:31745530 (SRXY1_2_7_11)
 著者        Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC
 タイトル      Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
 雑誌        J Endocr Soc 3:2341-2360 (2019)
 DOI:10.1210/js.2019-00306
 PMID:17503084 (SRXY2)
 著者        Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P
 タイトル      Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
 雑誌        Hum Genet 122:63-70 (2007)
 DOI:10.1007/s00439-007-0373-8
 PMID:23918653 (SRXY3)
 著者        Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA
 タイトル      Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
 雑誌        Am J Med Genet A 161A:2487-94 (2013)
 DOI:10.1002/ajmg.a.36084
 PMID:19361780 (SRXY5)
 著者        Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ
 タイトル      Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
 雑誌        Am J Hum Genet 84:658-63 (2009)
 DOI:10.1016/j.ajhg.2009.03.016
 PMID:21129722 (SRXY6)
 著者        Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H
 タイトル      Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
 雑誌        Am J Hum Genet 87:898-904 (2010)
 DOI:10.1016/j.ajhg.2010.11.003
 PMID:21802064 (SRXY8)
 著者        Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A
 タイトル      Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
 雑誌        Am J Hum Genet 89:201-18 (2011)
 DOI:10.1016/j.ajhg.2011.06.009
 PMID:24549039 (SRXY9)
 著者        Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K
 タイトル      Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
 雑誌        Hum Mol Genet 23:3657-65 (2014)
 DOI:10.1093/hmg/ddu074
 PMID:9398852 (FS)
 著者        Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K
 タイトル      Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
 雑誌        Nat Genet 17:467-70 (1997)
 DOI:10.1038/ng1297-467
 PMID:18203154 (DDS)
 著者        Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A
 タイトル      Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation.
 雑誌        Am J Med Genet A 146A:496-9 (2008)
 DOI:10.1002/ajmg.a.32168","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00607"">H00607</a>","46,XY 性腺形成不全症
 下位グループ    屈曲肢異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00442"">H00442</a>]
 Frasier 症候群 (FS)
 Denys-Drash 症候群 (DDS)","Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.",,"(SRXY1) SRY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6736"">6736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09266"">K09266</a>]
 (SRXY2) NR0B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:190"">190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08562"">K08562</a>]
 (SRXY3) NR5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2516"">2516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08560"">K08560</a>]
 (SRXY5) CBX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84733"">84733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11451"">K11451</a>]
 (SRXY6) MAP3K1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4214"">4214</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04416"">K04416</a>]
 (SRXY7) DHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50846"">50846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11990"">K11990</a>]
 (SRXY8) AKR1C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1646"">1646</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00089"">K00089</a>]
 (SRXY8) AKR1C4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1109"">1109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00037"">K00037</a>]
 (SRXY9) ZFPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23414"">23414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17442"">K17442</a>]
 (SRXY11) DHX37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57647"">57647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14780"">K14780</a>]
 (FS/DDS) WT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7490"">7490</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09234"">K09234</a>]",,,,,,"ICD-11: LD2A.1
 ICD-10: Q99.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006061"">D006061</a>
 OMIM: <a href=""https://www.omim.org/entry/400044"">400044</a> <a href=""https://www.omim.org/entry/300018"">300018</a> <a href=""https://www.omim.org/entry/612965"">612965</a> <a href=""https://www.omim.org/entry/613080"">613080</a> <a href=""https://www.omim.org/entry/613762"">613762</a> <a href=""https://www.omim.org/entry/233420"">233420</a> <a href=""https://www.omim.org/entry/607080"">607080</a> <a href=""https://www.omim.org/entry/614279"">614279</a> <a href=""https://www.omim.org/entry/616067"">616067</a> <a href=""https://www.omim.org/entry/273250"">273250</a> <a href=""https://www.omim.org/entry/136680"">136680</a> <a href=""https://www.omim.org/entry/194080"">194080</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18279784"">18279784</a>
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2007.11.001"">10.1016/j.beem.2007.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25813279"">25813279</a>
 著者        Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R
 タイトル      Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
 雑誌        Fertil Steril 103:1297-304 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2015.01.043"">10.1016/j.fertnstert.2015.01.043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31745530"">31745530</a> (SRXY1_2_7_11)
 著者        Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC
 タイトル      Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
 雑誌        J Endocr Soc 3:2341-2360 (2019)
 DOI:<a href=""https://doi.org/10.1210/js.2019-00306"">10.1210/js.2019-00306</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17503084"">17503084</a> (SRXY2)
 著者        Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P
 タイトル      Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
 雑誌        Hum Genet 122:63-70 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00439-007-0373-8"">10.1007/s00439-007-0373-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23918653"">23918653</a> (SRXY3)
 著者        Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA
 タイトル      Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
 雑誌        Am J Med Genet A 161A:2487-94 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36084"">10.1002/ajmg.a.36084</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19361780"">19361780</a> (SRXY5)
 著者        Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ
 タイトル      Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
 雑誌        Am J Hum Genet 84:658-63 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.016"">10.1016/j.ajhg.2009.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21129722"">21129722</a> (SRXY6)
 著者        Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H
 タイトル      Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
 雑誌        Am J Hum Genet 87:898-904 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.11.003"">10.1016/j.ajhg.2010.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21802064"">21802064</a> (SRXY8)
 著者        Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A
 タイトル      Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
 雑誌        Am J Hum Genet 89:201-18 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.009"">10.1016/j.ajhg.2011.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24549039"">24549039</a> (SRXY9)
 著者        Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K
 タイトル      Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
 雑誌        Hum Mol Genet 23:3657-65 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu074"">10.1093/hmg/ddu074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9398852"">9398852</a> (FS)
 著者        Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K
 タイトル      Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
 雑誌        Nat Genet 17:467-70 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng1297-467"">10.1038/ng1297-467</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203154"">18203154</a> (DDS)
 著者        Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A
 タイトル      Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation.
 雑誌        Am J Med Genet A 146A:496-9 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32168"">10.1002/ajmg.a.32168</a>"
H00608,"46,XY性分化疾患 (テストステロン分泌異常)
 下位グループ    Leydig 細胞低形成
 先天性副腎過形成 [DS:H00216]
 17β-ヒドロキシステロイド脱水素酵素欠損症
 5α-還元酵素欠損症
 上位グループ    男子性腺機能不全症 [DS:H02027]",,,"46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD.",生殖系疾患,,"LHCGR [HSA:3973] [KO:K04248]
 HSD17B3 [HSA:3293] [KO:K10207]
 SRD5A2 [HSA:6716] [KO:K12344]",,,,,,"ICD-11: LD2A.3
 ICD-10: Q56.1
 MeSH: D058490
 OMIM: 201710 264300 264600","PMID:18279784
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:10.1016/j.beem.2007.11.001
 PMID:18811725
 著者        Mendonca BB, Domenice S, Arnhold IJ, Costa EM
 タイトル      46,XY disorders of sex development (DSD).
 雑誌        Clin Endocrinol (Oxf) 70:173-87 (2009)
 DOI:10.1111/j.1365-2265.2008.03392.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00608"">H00608</a>","46,XY性分化疾患 (テストステロン分泌異常)
 下位グループ    Leydig 細胞低形成
 先天性副腎過形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00216"">H00216</a>]
 17β-ヒドロキシステロイド脱水素酵素欠損症
 5α-還元酵素欠損症
 上位グループ    男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD.",,"LHCGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3973"">3973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04248"">K04248</a>]
 HSD17B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3293"">3293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10207"">K10207</a>]
 SRD5A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6716"">6716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12344"">K12344</a>]",,,,,,"ICD-11: LD2A.3
 ICD-10: Q56.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058490"">D058490</a>
 OMIM: <a href=""https://www.omim.org/entry/201710"">201710</a> <a href=""https://www.omim.org/entry/264300"">264300</a> <a href=""https://www.omim.org/entry/264600"">264600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18279784"">18279784</a>
 著者        Hughes IA
 タイトル      Disorders of sex development: a new definition and classification.
 雑誌        Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2007.11.001"">10.1016/j.beem.2007.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18811725"">18811725</a>
 著者        Mendonca BB, Domenice S, Arnhold IJ, Costa EM
 タイトル      46,XY disorders of sex development (DSD).
 雑誌        Clin Endocrinol (Oxf) 70:173-87 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2265.2008.03392.x"">10.1111/j.1365-2265.2008.03392.x</a>"
H00609,ミュラー管遺残症候群,,,"Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.",生殖系疾患,,"(Type I) AMH [HSA:268] [KO:K04665]
 (Type II) AMHR2 [HSA:269] [KO:K04672]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q55.8
 MeSH: C536665
 OMIM: 261550","PMID:18811725
 著者        Mendonca BB, Domenice S, Arnhold IJ, Costa EM
 タイトル      46,XY disorders of sex development (DSD).
 雑誌        Clin Endocrinol (Oxf) 70:173-87 (2009)
 DOI:10.1111/j.1365-2265.2008.03392.x
 PMID:15878900
 著者        Josso N, Belville C, di Clemente N, Picard JY
 タイトル      AMH and AMH receptor defects in persistent Mullerian duct syndrome.
 雑誌        Hum Reprod Update 11:351-6 (2005)
 DOI:10.1093/humupd/dmi014
 PMID:28742509
 著者        Altincik A, Karaca F, Onay H
 タイトル      Persistent Mullerian duct syndrome: A novel mutation in the Alphanti-Mullerian Etaormone gene.
 雑誌        Hormones (Athens) 16:205-208 (2017)
 DOI:10.14310/horm.2002.1735","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00609"">H00609</a>",ミュラー管遺残症候群,"Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.",,"(Type I) AMH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:268"">268</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04665"">K04665</a>]
 (Type II) AMHR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:269"">269</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04672"">K04672</a>]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q55.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536665"">C536665</a>
 OMIM: <a href=""https://www.omim.org/entry/261550"">261550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18811725"">18811725</a>
 著者        Mendonca BB, Domenice S, Arnhold IJ, Costa EM
 タイトル      46,XY disorders of sex development (DSD).
 雑誌        Clin Endocrinol (Oxf) 70:173-87 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2265.2008.03392.x"">10.1111/j.1365-2265.2008.03392.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15878900"">15878900</a>
 著者        Josso N, Belville C, di Clemente N, Picard JY
 タイトル      AMH and AMH receptor defects in persistent Mullerian duct syndrome.
 雑誌        Hum Reprod Update 11:351-6 (2005)
 DOI:<a href=""https://doi.org/10.1093/humupd/dmi014"">10.1093/humupd/dmi014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28742509"">28742509</a>
 著者        Altincik A, Karaca F, Onay H
 タイトル      Persistent Mullerian duct syndrome: A novel mutation in the Alphanti-Mullerian Etaormone gene.
 雑誌        Hormones (Athens) 16:205-208 (2017)
 DOI:<a href=""https://doi.org/10.14310/horm.2002.1735"">10.14310/horm.2002.1735</a>"
H00610,トレチャーコリンズ症候群,,,"Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.",リボソーム病,,"(TCS1) TCOF1 [HSA:6949] [KO:K14562]
 (TCS2) POLR1D [HSA:9533] [KO:K03027]
 (TCS3) POLR1C [HSA:51082] [KO:K03020]
 (TCS4) POLR1B [HSA:84172] [KO:K03002]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 MeSH: D008342
 OMIM: 154500 613717 248390 618939","PMID:20174677
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:10.1039/b919670f
 PMID:19027870
 著者        Sakai D, Trainor PA
 タイトル      Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
 雑誌        Int J Biochem Cell Biol 41:1229-32 (2009)
 DOI:10.1016/j.biocel.2008.10.026
 PMID:15930015
 著者        Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC
 タイトル      The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
 雑誌        Hum Mol Genet 14:2035-43 (2005)
 DOI:10.1093/hmg/ddi208
 PMID:21131976
 著者        Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D
 タイトル      Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
 雑誌        Nat Genet 43:20-2 (2011)
 DOI:10.1038/ng.724
 PMID:31649276
 著者        Sanchez E, Laplace-Builhe B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Ludecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Riviere JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Genevieve D
 タイトル      POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
 雑誌        Genet Med 22:547-556 (2020)
 DOI:10.1038/s41436-019-0669-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00610"">H00610</a>",トレチャーコリンズ症候群,"Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.",,"(TCS1) TCOF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6949"">6949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14562"">K14562</a>]
 (TCS2) POLR1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9533"">9533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03027"">K03027</a>]
 (TCS3) POLR1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51082"">51082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03020"">K03020</a>]
 (TCS4) POLR1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84172"">84172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03002"">K03002</a>]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008342"">D008342</a>
 OMIM: <a href=""https://www.omim.org/entry/154500"">154500</a> <a href=""https://www.omim.org/entry/613717"">613717</a> <a href=""https://www.omim.org/entry/248390"">248390</a> <a href=""https://www.omim.org/entry/618939"">618939</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20174677"">20174677</a>
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:<a href=""https://doi.org/10.1039/b919670f"">10.1039/b919670f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19027870"">19027870</a>
 著者        Sakai D, Trainor PA
 タイトル      Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
 雑誌        Int J Biochem Cell Biol 41:1229-32 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2008.10.026"">10.1016/j.biocel.2008.10.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15930015"">15930015</a>
 著者        Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC
 タイトル      The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
 雑誌        Hum Mol Genet 14:2035-43 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi208"">10.1093/hmg/ddi208</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21131976"">21131976</a>
 著者        Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D
 タイトル      Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
 雑誌        Nat Genet 43:20-2 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.724"">10.1038/ng.724</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31649276"">31649276</a>
 著者        Sanchez E, Laplace-Builhe B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Ludecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Riviere JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Genevieve D
 タイトル      POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
 雑誌        Genet Med 22:547-556 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0669-9"">10.1038/s41436-019-0669-9</a>"
H00611,膝窩部贅皮症候群,,,"Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities.",先天奇形,,IRF6 [HSA:3664] [KO:K10154],,,,,Isolated orofacial clefts are described in H00516.,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: C562509
 OMIM: 119500","PMID:20803643
 著者        Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
 タイトル      Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
 雑誌        Am J Med Genet A 152A:2262-7 (2010)
 DOI:10.1002/ajmg.a.33338
 PMID:20301581
 著者        Durda KM, Schutte BC, Murray JC
 タイトル      IRF6-Related Disorders
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00611"">H00611</a>",膝窩部贅皮症候群,"Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities.",,"IRF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3664"">3664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10154"">K10154</a>]",,,,,"Isolated orofacial clefts are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00516."">H00516.</a>","ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562509"">C562509</a>
 OMIM: <a href=""https://www.omim.org/entry/119500"">119500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20803643"">20803643</a>
 著者        Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
 タイトル      Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
 雑誌        Am J Med Genet A 152A:2262-7 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33338"">10.1002/ajmg.a.33338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301581"">20301581</a>
 著者        Durda KM, Schutte BC, Murray JC
 タイトル      IRF6-Related Disorders
 雑誌        GeneReviews (1993)"
H00612,"原発開放隅角緑内障;
 緑内障 1 型",,,"Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.",神経系疾患,,"(GLC1A) MYOC [HSA:4653] [KO:K23027]
 (GLC1E) OPTN [HSA:10133] [KO:K19946]
 (GLC1F) ASB10 [HSA:136371] [KO:K10332]
 (GLC1G) WDR36 [HSA:134430] [KO:K14554]
 (GLC1O) NTF4 [HSA:4909] [KO:K12457]",,,,"ジスチグミン臭化物 [DR:D01228]
 ジピベフリン塩酸塩 [DR:D01017]
 ピロカルピン塩酸塩 [DR:D02200]
 チモロールマレイン酸塩 [DR:D00603]
 カルテオロール塩酸塩 [DR:D00599]
 ベタキソロール塩酸塩 [DR:D00598]
 ブリモニジン酒石酸塩 [DR:D02076]
 アフリベルセプト [DR:D09574]
 ドルゾラミド塩酸塩 [DR:D00653]
 ブリンゾラミド [DR:D00652]
 ブリンゾラミド・ブリモニジン酒石酸塩 [DR:D10854]
 ブリンゾラミド・チモロールマレイン酸塩 [DR:D10512]
 レボブノロール塩酸塩 [DR:D01025]
 ラタノプロスト・チモロールマレイン酸塩 [DR:D07505]
 ドルゾラミド塩酸塩・チモロールマレイン酸塩 [DR:D08493]
 トラボプロスト・チモロールマレイン酸塩 [DR:D09815]
 ブリモニジン酒石酸塩・チモロールマレイン酸塩 [DR:D10298]
 タフルプロスト・チモロールマレイン酸塩 [DR:D10569]
 カルテオロール・ラタノプロスト [DR:D10804]
 ラタノプロスト [DR:D00356]
 イソプロピルウノプロストン [DR:D01452]
 ビマトプロスト [DR:D02724]
 トラボプロスト [DR:D01964]
 タフルプロスト [DR:D06274]
 オミデネパグイソプロピル [DR:D10966]
 リパスジル塩酸塩水和物 [DR:D10463]
 ニプラジロール [DR:D01691]
 ブナゾシン塩酸塩 [DR:D01887]
 アセタゾラミド [DR:D00218]
 アセタゾラミドナトリウム [DR:D01196]
 イソソルビド [DR:D00347]",GLC1G is a ribosome biogenesis disorder.,"ICD-11: 9C61.0
 ICD-10: H40.1
 MeSH: C564234 C567753
 OMIM: 137750 137760 603383 609887 613100","PMID:21655191
 著者        Carbone MA, Chen Y, Hughes GA, Weinreb RN, Zabriskie NA, Zhang K, Anholt RR
 タイトル      Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma.
 雑誌        PLoS One 6:e20649 (2011)
 DOI:10.1371/journal.pone.0020649
 PMID:16332362
 著者        Fan BJ, Wang DY, Lam DS, Pang CP
 タイトル      Gene mapping for primary open angle glaucoma.
 雑誌        Clin Biochem 39:249-58 (2006)
 DOI:10.1016/j.clinbiochem.2005.11.001
 PMID:21730848
 著者        Khan AO
 タイトル      Genetics of primary glaucoma.
 雑誌        Curr Opin Ophthalmol 22:347-55 (2011)
 DOI:10.1097/ICU.0b013e32834922d2
 PMID:20431268
 著者        Fuse N
 タイトル      Genetic bases for glaucoma.
 雑誌        Tohoku J Exp Med 221:1-10 (2010)
 DOI:10.1620/tjem.221.1
 PMID:20174677
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:10.1039/b919670f
 PMID:22156576
 著者        Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlotzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK
 タイトル      Variants in ASB10 are associated with open-angle glaucoma.
 雑誌        Hum Mol Genet 21:1336-49 (2012)
 DOI:10.1093/hmg/ddr572","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00612"">H00612</a>","原発開放隅角緑内障;
 緑内障 1 型","Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.",,"(GLC1A) MYOC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4653"">4653</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23027"">K23027</a>]
 (GLC1E) OPTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10133"">10133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19946"">K19946</a>]
 (GLC1F) ASB10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:136371"">136371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10332"">K10332</a>]
 (GLC1G) WDR36 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:134430"">134430</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14554"">K14554</a>]
 (GLC1O) NTF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4909"">4909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12457"">K12457</a>]",,,,"ジスチグミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01228"">D01228</a>]
 ジピベフリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01017"">D01017</a>]
 ピロカルピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02200"">D02200</a>]
 チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00603"">D00603</a>]
 カルテオロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00599"">D00599</a>]
 ベタキソロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00598"">D00598</a>]
 ブリモニジン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02076"">D02076</a>]
 アフリベルセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09574"">D09574</a>]
 ドルゾラミド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00653"">D00653</a>]
 ブリンゾラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00652"">D00652</a>]
 ブリンゾラミド・ブリモニジン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10854"">D10854</a>]
 ブリンゾラミド・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10512"">D10512</a>]
 レボブノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01025"">D01025</a>]
 ラタノプロスト・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07505"">D07505</a>]
 ドルゾラミド塩酸塩・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08493"">D08493</a>]
 トラボプロスト・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09815"">D09815</a>]
 ブリモニジン酒石酸塩・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10298"">D10298</a>]
 タフルプロスト・チモロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10569"">D10569</a>]
 カルテオロール・ラタノプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10804"">D10804</a>]
 ラタノプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00356"">D00356</a>]
 イソプロピルウノプロストン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01452"">D01452</a>]
 ビマトプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02724"">D02724</a>]
 トラボプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01964"">D01964</a>]
 タフルプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06274"">D06274</a>]
 オミデネパグイソプロピル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10966"">D10966</a>]
 リパスジル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10463"">D10463</a>]
 ニプラジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01691"">D01691</a>]
 ブナゾシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01887"">D01887</a>]
 アセタゾラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00218"">D00218</a>]
 アセタゾラミドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01196"">D01196</a>]
 イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00347"">D00347</a>]",GLC1G is a ribosome biogenesis disorder.,"ICD-11: 9C61.0
 ICD-10: H40.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564234"">C564234</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567753"">C567753</a>
 OMIM: <a href=""https://www.omim.org/entry/137750"">137750</a> <a href=""https://www.omim.org/entry/137760"">137760</a> <a href=""https://www.omim.org/entry/603383"">603383</a> <a href=""https://www.omim.org/entry/609887"">609887</a> <a href=""https://www.omim.org/entry/613100"">613100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21655191"">21655191</a>
 著者        Carbone MA, Chen Y, Hughes GA, Weinreb RN, Zabriskie NA, Zhang K, Anholt RR
 タイトル      Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma.
 雑誌        PLoS One 6:e20649 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0020649"">10.1371/journal.pone.0020649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16332362"">16332362</a>
 著者        Fan BJ, Wang DY, Lam DS, Pang CP
 タイトル      Gene mapping for primary open angle glaucoma.
 雑誌        Clin Biochem 39:249-58 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.clinbiochem.2005.11.001"">10.1016/j.clinbiochem.2005.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21730848"">21730848</a>
 著者        Khan AO
 タイトル      Genetics of primary glaucoma.
 雑誌        Curr Opin Ophthalmol 22:347-55 (2011)
 DOI:<a href=""https://doi.org/10.1097/ICU.0b013e32834922d2"">10.1097/ICU.0b013e32834922d2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20431268"">20431268</a>
 著者        Fuse N
 タイトル      Genetic bases for glaucoma.
 雑誌        Tohoku J Exp Med 221:1-10 (2010)
 DOI:<a href=""https://doi.org/10.1620/tjem.221.1"">10.1620/tjem.221.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20174677"">20174677</a>
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:<a href=""https://doi.org/10.1039/b919670f"">10.1039/b919670f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22156576"">22156576</a>
 著者        Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlotzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK
 タイトル      Variants in ASB10 are associated with open-angle glaucoma.
 雑誌        Hum Mol Genet 21:1336-49 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr572"">10.1093/hmg/ddr572</a>"
H00613,"小児性皮質性骨増殖;
 カフィー病",,,"Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios.",筋骨格疾患,,COL1A1 [HSA:1277] [KO:K06236],,,,,,"ICD-11: LD24.1Y
 ICD-10: M89.8
 MeSH: D006958
 OMIM: 114000","PMID:18848116
 著者        Kamoun-Goldrat A, le Merrer M
 タイトル      Infantile cortical hyperostosis (Caffey disease): a review.
 雑誌        J Oral Maxillofac Surg 66:2145-50 (2008)
 DOI:10.1016/j.joms.2007.09.007
 PMID:18553566
 著者        Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M
 タイトル      Prenatal cortical hyperostosis with COL1A1 gene mutation.
 雑誌        Am J Med Genet A 146A:1820-4 (2008)
 DOI:10.1002/ajmg.a.32351
 PMID:21567126
 著者        Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B
 タイトル      Infantile cortical hyperostosis and COL1A1 mutation in four generations.
 雑誌        Eur J Pediatr 170:1385-90 (2011)
 DOI:10.1007/s00431-011-1463-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00613"">H00613</a>","小児性皮質性骨増殖;
 カフィー病","Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios.",,"COL1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1277"">1277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: M89.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006958"">D006958</a>
 OMIM: <a href=""https://www.omim.org/entry/114000"">114000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18848116"">18848116</a>
 著者        Kamoun-Goldrat A, le Merrer M
 タイトル      Infantile cortical hyperostosis (Caffey disease): a review.
 雑誌        J Oral Maxillofac Surg 66:2145-50 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.joms.2007.09.007"">10.1016/j.joms.2007.09.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18553566"">18553566</a>
 著者        Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M
 タイトル      Prenatal cortical hyperostosis with COL1A1 gene mutation.
 雑誌        Am J Med Genet A 146A:1820-4 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32351"">10.1002/ajmg.a.32351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21567126"">21567126</a>
 著者        Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B
 タイトル      Infantile cortical hyperostosis and COL1A1 mutation in four generations.
 雑誌        Eur J Pediatr 170:1385-90 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00431-011-1463-0"">10.1007/s00431-011-1463-0</a>"
H00614,ヒアリン線維腫症候群,,,"Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea.",筋骨格疾患,,CMG2 [HSA:118429] [KO:K20909],,,,,,"ICD-11: FB86.2
 ICD-10: M72.9
 MeSH: D057770
 OMIM: 228600","PMID:18222328
 著者        Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW
 タイトル      Infantile systemic hyalinosis: Case report and review of the literature.
 雑誌        J Am Acad Dermatol 58:303-7 (2008)
 DOI:10.1016/j.jaad.2007.06.008
 PMID:20301698
 著者        Shieh JTC, Hoyme HE, Arbour LT
 タイトル      Hyalinosis, Inherited Systemic
 雑誌        GeneReviews (1993)
 PMID:21208784
 著者        Tzellos TG, Batzios SP, Dionyssopoulos A, Karakiulakis G, Papakonstantinou E
 タイトル      Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis.
 雑誌        J Dermatol Sci 61:94-100 (2011)
 DOI:10.1016/j.jdermsci.2010.12.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00614"">H00614</a>",ヒアリン線維腫症候群,"Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea.",,"CMG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:118429"">118429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20909"">K20909</a>]",,,,,,"ICD-11: FB86.2
 ICD-10: M72.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057770"">D057770</a>
 OMIM: <a href=""https://www.omim.org/entry/228600"">228600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18222328"">18222328</a>
 著者        Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW
 タイトル      Infantile systemic hyalinosis: Case report and review of the literature.
 雑誌        J Am Acad Dermatol 58:303-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2007.06.008"">10.1016/j.jaad.2007.06.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301698"">20301698</a>
 著者        Shieh JTC, Hoyme HE, Arbour LT
 タイトル      Hyalinosis, Inherited Systemic
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21208784"">21208784</a>
 著者        Tzellos TG, Batzios SP, Dionyssopoulos A, Karakiulakis G, Papakonstantinou E
 タイトル      Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis.
 雑誌        J Dermatol Sci 61:94-100 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2010.12.002"">10.1016/j.jdermsci.2010.12.002</a>"
H00615,"エナメル質形成不全症
 下位グループ    長胴歯を伴うエナメル質形成不全・未成熟 [DS:H00618]",,,Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.,口腔疾患,,"(AI1A) LAMB3 [HSA:3914] [KO:K06244]
 (AI1B/C) ENAM [HSA:10117] [KO:K23444]
 (AI1E) AMELX [HSA:265] [KO:K23443]
 (AI1F) AMBN [HSA:258] [KO:K23442]
 (AI1G) FAM20A [HSA:54757] [KO:K21957]
 (AI1H) ITGB6 [HSA:3694] [KO:K06589]
 (AI1J) ACPT [HSA:93650] [KO:K19284]
 (AI2A1) KLK4 [HSA:9622] [KO:K08666]
 (AI2A2) MMP20 [HSA:9313] [KO:K07999]
 (AI2A3) WDR72 [HSA:256764] [KO:K24753]
 (AI2A4) C4orf26 [HSA:152816] [KO:K24398]
 (AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
 (AI2A6) GPR68 [HSA:8111] [KO:K08408]
 (AI3A) FAM83H [HSA:286077] [KO:K23931]
 (AI3B) AMTN [HSA:401138] [KO:K25225]
 (AI3C) RELT [HSA:84957] [KO:K05156]",,,,,"AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic.","ICD-11: LA30.6
 ICD-10: K00.5
 MeSH: D000567
 OMIM: 104530 104500 204650 301200 616270 204690 616221 617297 204700 612529 613211 614832 615887 617217 130900 617607 618386","PMID:16304440
 著者        Stephanopoulos G, Garefalaki ME, Lyroudia K
 タイトル      Genes and related proteins involved in amelogenesis imperfecta.
 雑誌        J Dent Res 84:1117-26 (2005)
 DOI:10.1177/154405910508401206
 PMID:17408482
 著者        Crawford PJ, Aldred M, Bloch-Zupan A
 タイトル      Amelogenesis imperfecta.
 雑誌        Orphanet J Rare Dis 2:17 (2007)
 DOI:10.1186/1750-1172-2-17
 PMID:3150442
 著者        Witkop CJ Jr
 タイトル      Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.
 雑誌        J Oral Pathol 17:547-53 (1988)
 DOI:10.1111/j.1600-0714.1988.tb01332.x
 PMID:19853237
 著者        El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
 雑誌        Am J Hum Genet 85:699-705 (2009)
 DOI:10.1016/j.ajhg.2009.09.014
 PMID:18252228
 著者        Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP
 タイトル      FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
 雑誌        Am J Hum Genet 82:489-94 (2008)
 DOI:10.1016/j.ajhg.2007.09.020
 PMID:22901946
 著者        Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raif el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
 雑誌        Am J Hum Genet 91:565-71 (2012)
 DOI:10.1016/j.ajhg.2012.07.020
 PMID:24858907
 著者        Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
 雑誌        Hum Mol Genet 23:5317-24 (2014)
 DOI:10.1093/hmg/ddu247
 PMID:27693231
 著者        Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ
 タイトル      Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
 雑誌        Am J Hum Genet 99:984-990 (2016)
 DOI:10.1016/j.ajhg.2016.08.020
 PMID:27843125
 著者        Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW
 タイトル      Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
 雑誌        Am J Hum Genet 99:1199-1205 (2016)
 DOI:10.1016/j.ajhg.2016.09.018
 PMID:23375655
 著者        Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ
 タイトル      Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
 雑誌        Am J Hum Genet 92:307-12 (2013)
 DOI:10.1016/j.ajhg.2013.01.003
 PMID:23958762
 著者        Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC
 タイトル      LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
 雑誌        J Dent Res 92:899-904 (2013)
 DOI:10.1177/0022034513502054
 PMID:21990045
 著者        Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW
 タイトル      Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
 雑誌        Hum Mutat 33:91-4 (2012)
 DOI:10.1002/humu.21621
 PMID:24319098
 著者        Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
 雑誌        Hum Mol Genet 23:2189-97 (2014)
 DOI:10.1093/hmg/ddt616
 PMID:20640366
 著者        Canger EM, Celenk P, Yenisey M, Odyakmaz SZ
 タイトル      Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report.
 雑誌        Braz Dent J 21:170-4 (2010)
 DOI:10.1590/s0103-64402010000200014
 PMID:27412008
 著者        Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
 雑誌        Hum Mol Genet 25:3578-3587 (2016)
 DOI:10.1093/hmg/ddw203
 PMID:30506946
 著者        Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC
 タイトル      Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
 雑誌        Clin Genet 95:375-383 (2019)
 DOI:10.1111/cge.13487","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00615"">H00615</a>","エナメル質形成不全症
 下位グループ    長胴歯を伴うエナメル質形成不全・未成熟 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00618"">H00618</a>]",Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.,,"(AI1A) LAMB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3914"">3914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06244"">K06244</a>]
 (AI1B/C) ENAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10117"">10117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23444"">K23444</a>]
 (AI1E) AMELX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:265"">265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23443"">K23443</a>]
 (AI1F) AMBN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:258"">258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23442"">K23442</a>]
 (AI1G) FAM20A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54757"">54757</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21957"">K21957</a>]
 (AI1H) ITGB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3694"">3694</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06589"">K06589</a>]
 (AI1J) ACPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93650"">93650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19284"">K19284</a>]
 (AI2A1) KLK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9622"">9622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08666"">K08666</a>]
 (AI2A2) MMP20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9313"">9313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07999"">K07999</a>]
 (AI2A3) WDR72 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:256764"">256764</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24753"">K24753</a>]
 (AI2A4) C4orf26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:152816"">152816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24398"">K24398</a>]
 (AI2A5) SLC24A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123041"">123041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13752"">K13752</a>]
 (AI2A6) GPR68 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8111"">8111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08408"">K08408</a>]
 (AI3A) FAM83H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286077"">286077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23931"">K23931</a>]
 (AI3B) AMTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:401138"">401138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25225"">K25225</a>]
 (AI3C) RELT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84957"">84957</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05156"">K05156</a>]",,,,,"AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic.","ICD-11: LA30.6
 ICD-10: K00.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000567"">D000567</a>
 OMIM: <a href=""https://www.omim.org/entry/104530"">104530</a> <a href=""https://www.omim.org/entry/104500"">104500</a> <a href=""https://www.omim.org/entry/204650"">204650</a> <a href=""https://www.omim.org/entry/301200"">301200</a> <a href=""https://www.omim.org/entry/616270"">616270</a> <a href=""https://www.omim.org/entry/204690"">204690</a> <a href=""https://www.omim.org/entry/616221"">616221</a> <a href=""https://www.omim.org/entry/617297"">617297</a> <a href=""https://www.omim.org/entry/204700"">204700</a> <a href=""https://www.omim.org/entry/612529"">612529</a> <a href=""https://www.omim.org/entry/613211"">613211</a> <a href=""https://www.omim.org/entry/614832"">614832</a> <a href=""https://www.omim.org/entry/615887"">615887</a> <a href=""https://www.omim.org/entry/617217"">617217</a> <a href=""https://www.omim.org/entry/130900"">130900</a> <a href=""https://www.omim.org/entry/617607"">617607</a> <a href=""https://www.omim.org/entry/618386"">618386</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16304440"">16304440</a>
 著者        Stephanopoulos G, Garefalaki ME, Lyroudia K
 タイトル      Genes and related proteins involved in amelogenesis imperfecta.
 雑誌        J Dent Res 84:1117-26 (2005)
 DOI:<a href=""https://doi.org/10.1177/154405910508401206"">10.1177/154405910508401206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17408482"">17408482</a>
 著者        Crawford PJ, Aldred M, Bloch-Zupan A
 タイトル      Amelogenesis imperfecta.
 雑誌        Orphanet J Rare Dis 2:17 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-17"">10.1186/1750-1172-2-17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3150442"">3150442</a>
 著者        Witkop CJ Jr
 タイトル      Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.
 雑誌        J Oral Pathol 17:547-53 (1988)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0714.1988.tb01332.x"">10.1111/j.1600-0714.1988.tb01332.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19853237"">19853237</a>
 著者        El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
 雑誌        Am J Hum Genet 85:699-705 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.014"">10.1016/j.ajhg.2009.09.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252228"">18252228</a>
 著者        Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP
 タイトル      FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
 雑誌        Am J Hum Genet 82:489-94 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.020"">10.1016/j.ajhg.2007.09.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22901946"">22901946</a>
 著者        Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raif el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
 雑誌        Am J Hum Genet 91:565-71 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.020"">10.1016/j.ajhg.2012.07.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24858907"">24858907</a>
 著者        Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
 雑誌        Hum Mol Genet 23:5317-24 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu247"">10.1093/hmg/ddu247</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27693231"">27693231</a>
 著者        Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ
 タイトル      Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
 雑誌        Am J Hum Genet 99:984-990 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.020"">10.1016/j.ajhg.2016.08.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27843125"">27843125</a>
 著者        Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW
 タイトル      Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
 雑誌        Am J Hum Genet 99:1199-1205 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.018"">10.1016/j.ajhg.2016.09.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23375655"">23375655</a>
 著者        Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ
 タイトル      Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
 雑誌        Am J Hum Genet 92:307-12 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.003"">10.1016/j.ajhg.2013.01.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23958762"">23958762</a>
 著者        Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC
 タイトル      LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
 雑誌        J Dent Res 92:899-904 (2013)
 DOI:<a href=""https://doi.org/10.1177/0022034513502054"">10.1177/0022034513502054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21990045"">21990045</a>
 著者        Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW
 タイトル      Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
 雑誌        Hum Mutat 33:91-4 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21621"">10.1002/humu.21621</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24319098"">24319098</a>
 著者        Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
 雑誌        Hum Mol Genet 23:2189-97 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt616"">10.1093/hmg/ddt616</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20640366"">20640366</a>
 著者        Canger EM, Celenk P, Yenisey M, Odyakmaz SZ
 タイトル      Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report.
 雑誌        Braz Dent J 21:170-4 (2010)
 DOI:<a href=""https://doi.org/10.1590/s0103-64402010000200014"">10.1590/s0103-64402010000200014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27412008"">27412008</a>
 著者        Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ
 タイトル      Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
 雑誌        Hum Mol Genet 25:3578-3587 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw203"">10.1093/hmg/ddw203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30506946"">30506946</a>
 著者        Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC
 タイトル      Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
 雑誌        Clin Genet 95:375-383 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13487"">10.1111/cge.13487</a>"
H00616,ボーエン-コンラディ症候群,,,"Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.",リボソーム病,,EMG1 [HSA:10436] [KO:K14568],,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: C537081
 OMIM: 211180","PMID:19463982
 著者        Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B
 タイトル      Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
 雑誌        Am J Hum Genet 84:728-39 (2009)
 DOI:10.1016/j.ajhg.2009.04.017
 PMID:20174677
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:10.1039/b919670f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00616"">H00616</a>",ボーエン-コンラディ症候群,"Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.",,"EMG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10436"">10436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14568"">K14568</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537081"">C537081</a>
 OMIM: <a href=""https://www.omim.org/entry/211180"">211180</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19463982"">19463982</a>
 著者        Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B
 タイトル      Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
 雑誌        Am J Hum Genet 84:728-39 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.017"">10.1016/j.ajhg.2009.04.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20174677"">20174677</a>
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:<a href=""https://doi.org/10.1039/b919670f"">10.1039/b919670f</a>"
H00617,"Desmosterolosis;
 DHCR24欠損症",,,"Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24).",先天奇形,,DHCR24 [HSA:1718] [KO:K09828],,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.8
 MeSH: C566555
 OMIM: 602398","PMID:21671375
 著者        Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
 タイトル      Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
 雑誌        Am J Med Genet A 155A:1597-604 (2011)
 DOI:10.1002/ajmg.a.34040
 PMID:9450875
 著者        FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT
 タイトル      Clinical phenotype of desmosterolosis.
 雑誌        Am J Med Genet 75:145-52 (1998)
 DOI:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S
 PMID:12457401
 著者        Andersson HC, Kratz L, Kelley R
 タイトル      Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
 雑誌        Am J Med Genet 113:315-9 (2002)
 DOI:10.1002/ajmg.b.10873","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00617"">H00617</a>","Desmosterolosis;
 DHCR24欠損症","Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24).",,"DHCR24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1718"">1718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09828"">K09828</a>]",,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566555"">C566555</a>
 OMIM: <a href=""https://www.omim.org/entry/602398"">602398</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21671375"">21671375</a>
 著者        Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M
 タイトル      Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
 雑誌        Am J Med Genet A 155A:1597-604 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34040"">10.1002/ajmg.a.34040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9450875"">9450875</a>
 著者        FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT
 タイトル      Clinical phenotype of desmosterolosis.
 雑誌        Am J Med Genet 75:145-52 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980113)75:"">10.1002/(SICI)1096-8628(19980113)75:</a><a href=""https://doi.org/2<145:"">2<145:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-S"">AID-AJMG5>3.0.CO;2-S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12457401"">12457401</a>
 著者        Andersson HC, Kratz L, Kelley R
 タイトル      Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
 雑誌        Am J Med Genet 113:315-9 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.10873"">10.1002/ajmg.b.10873</a>"
H00618,"長胴歯を伴うエナメル質形成不全・未成熟
 上位グループ    エナメル質形成不全症 [DS:H00615]",,,"Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.",口腔および歯の疾患,,DLX3 [HSA:1747] [KO:K09315],,,,,"Amelogenesis imperfecta and trichodentoosseous dysplasia are described in H00615 and H00487, respectively.","ICD-11: LA30.6
 ICD-10: K00.2
 MeSH: C566293
 OMIM: 104510","PMID:16304440
 著者        Stephanopoulos G, Garefalaki ME, Lyroudia K
 タイトル      Genes and related proteins involved in amelogenesis imperfecta.
 雑誌        J Dent Res 84:1117-26 (2005)
 DOI:10.1177/154405910508401206
 PMID:17408482
 著者        Crawford PJ, Aldred M, Bloch-Zupan A
 タイトル      Amelogenesis imperfecta.
 雑誌        Orphanet J Rare Dis 2:17 (2007)
 DOI:10.1186/1750-1172-2-17
 PMID:17552940
 著者        Hu JC, Simmer JP
 タイトル      Developmental biology and genetics of dental malformations.
 雑誌        Orthod Craniofac Res 10:45-52 (2007)
 DOI:10.1111/j.1601-6343.2007.00384.x
 PMID:15666299
 著者        Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M
 タイトル      DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.
 雑誌        Am J Med Genet A 133A:138-41 (2005)
 DOI:10.1002/ajmg.a.30521","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00618"">H00618</a>","長胴歯を伴うエナメル質形成不全・未成熟
 上位グループ    エナメル質形成不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00615"">H00615</a>]","Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.",,"DLX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1747"">1747</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09315"">K09315</a>]",,,,,"Amelogenesis imperfecta and trichodentoosseous dysplasia are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00615"">H00615</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00487,"">H00487,</a> respectively.","ICD-11: LA30.6
 ICD-10: K00.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566293"">C566293</a>
 OMIM: <a href=""https://www.omim.org/entry/104510"">104510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16304440"">16304440</a>
 著者        Stephanopoulos G, Garefalaki ME, Lyroudia K
 タイトル      Genes and related proteins involved in amelogenesis imperfecta.
 雑誌        J Dent Res 84:1117-26 (2005)
 DOI:<a href=""https://doi.org/10.1177/154405910508401206"">10.1177/154405910508401206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17408482"">17408482</a>
 著者        Crawford PJ, Aldred M, Bloch-Zupan A
 タイトル      Amelogenesis imperfecta.
 雑誌        Orphanet J Rare Dis 2:17 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-17"">10.1186/1750-1172-2-17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17552940"">17552940</a>
 著者        Hu JC, Simmer JP
 タイトル      Developmental biology and genetics of dental malformations.
 雑誌        Orthod Craniofac Res 10:45-52 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1601-6343.2007.00384.x"">10.1111/j.1601-6343.2007.00384.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15666299"">15666299</a>
 著者        Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M
 タイトル      DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.
 雑誌        Am J Med Genet A 133A:138-41 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30521"">10.1002/ajmg.a.30521</a>"
H00619,ケニー・キャフェイ症候群,,,"Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins.",先天奇形,,"TBCE [HSA:6905] [KO:K21768]
 FAM111A [HSA:63901] [KO:K24274]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: C537020
 OMIM: 244460 127000","PMID:9806825
 著者        Diaz GA, Khan KT, Gelb BD
 タイトル      The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
 雑誌        Genomics 54:13-8 (1998)
 DOI:10.1006/geno.1998.5530
 PMID:12389028
 著者        Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD
 タイトル      Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
 雑誌        Nat Genet 32:448-52 (2002)
 DOI:10.1038/ng1012
 PMID:23684011
 著者        Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A
 タイトル      FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
 雑誌        Am J Hum Genet 92:990-5 (2013)
 DOI:10.1016/j.ajhg.2013.04.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00619"">H00619</a>",ケニー・キャフェイ症候群,"Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins.",,"TBCE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6905"">6905</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21768"">K21768</a>]
 FAM111A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63901"">63901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24274"">K24274</a>]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537020"">C537020</a>
 OMIM: <a href=""https://www.omim.org/entry/244460"">244460</a> <a href=""https://www.omim.org/entry/127000"">127000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9806825"">9806825</a>
 著者        Diaz GA, Khan KT, Gelb BD
 タイトル      The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
 雑誌        Genomics 54:13-8 (1998)
 DOI:<a href=""https://doi.org/10.1006/geno.1998.5530"">10.1006/geno.1998.5530</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12389028"">12389028</a>
 著者        Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD
 タイトル      Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
 雑誌        Nat Genet 32:448-52 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1012"">10.1038/ng1012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23684011"">23684011</a>
 著者        Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A
 タイトル      FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
 雑誌        Am J Hum Genet 92:990-5 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.020"">10.1016/j.ajhg.2013.04.020</a>"
H00620,"Axenfeld–Rieger 症候群
 上位グループ    遺伝性前眼部形成異常 [DS:H01159]",,,"Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder.",先天奇形,,"(RIEG1) PITX2 [HSA:5308] [KO:K04686]
 (RIEG3) FOXC1 [HSA:2296] [KO:K09396]",,,,,,"ICD-11: LA11.2
 ICD-10: Q13.8
 MeSH: C535679
 OMIM: 180500 602482","PMID:16274491
 著者        Hjalt TA, Semina EV
 タイトル      Current molecular understanding of Axenfeld-Rieger syndrome.
 雑誌        Expert Rev Mol Med 7:1-17 (2005)
 DOI:10.1017/S1462399405010082
 PMID:19513095
 著者        Tumer Z, Bach-Holm D
 タイトル      Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
 雑誌        Eur J Hum Genet 17:1527-39 (2009)
 DOI:10.1038/ejhg.2009.93
 PMID:20831741
 著者        Waldron JM, McNamara C, Hewson AR, McNamara CM
 タイトル      Axenfeld-Rieger syndrome (ARS): A review and case report.
 雑誌        Spec Care Dentist 30:218-22 (2010)
 DOI:10.1111/j.1754-4505.2010.00153.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00620"">H00620</a>","Axenfeld–Rieger 症候群
 上位グループ    遺伝性前眼部形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01159"">H01159</a>]","Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder.",,"(RIEG1) PITX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5308"">5308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04686"">K04686</a>]
 (RIEG3) FOXC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2296"">2296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09396"">K09396</a>]",,,,,,"ICD-11: LA11.2
 ICD-10: Q13.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535679"">C535679</a>
 OMIM: <a href=""https://www.omim.org/entry/180500"">180500</a> <a href=""https://www.omim.org/entry/602482"">602482</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16274491"">16274491</a>
 著者        Hjalt TA, Semina EV
 タイトル      Current molecular understanding of Axenfeld-Rieger syndrome.
 雑誌        Expert Rev Mol Med 7:1-17 (2005)
 DOI:<a href=""https://doi.org/10.1017/S1462399405010082"">10.1017/S1462399405010082</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19513095"">19513095</a>
 著者        Tumer Z, Bach-Holm D
 タイトル      Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
 雑誌        Eur J Hum Genet 17:1527-39 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.93"">10.1038/ejhg.2009.93</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20831741"">20831741</a>
 著者        Waldron JM, McNamara C, Hewson AR, McNamara CM
 タイトル      Axenfeld-Rieger syndrome (ARS): A review and case report.
 雑誌        Spec Care Dentist 30:218-22 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1754-4505.2010.00153.x"">10.1111/j.1754-4505.2010.00153.x</a>"
H00621,ANE症候群,,,"Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome.",リボソーム病,,RBM28 [HSA:55131] [KO:K14573],,,,,,"MeSH: C567425
 OMIM: 612079","PMID:18439547
 著者        Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E
 タイトル      Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
 雑誌        Am J Hum Genet 82:1114-21 (2008)
 DOI:10.1016/j.ajhg.2008.03.014
 PMID:20231366
 著者        Spiegel R, Shalev SA, Adawi A, Sprecher E, Tenenbaum-Rakover Y
 タイトル      ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
 雑誌        Eur J Endocrinol 162:1021-5 (2010)
 DOI:10.1530/EJE-10-0077
 PMID:20174677
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:10.1039/b919670f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00621"">H00621</a>",ANE症候群,"Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome.",,"RBM28 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55131"">55131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14573"">K14573</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567425"">C567425</a>
 OMIM: <a href=""https://www.omim.org/entry/612079"">612079</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18439547"">18439547</a>
 著者        Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E
 タイトル      Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
 雑誌        Am J Hum Genet 82:1114-21 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.014"">10.1016/j.ajhg.2008.03.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20231366"">20231366</a>
 著者        Spiegel R, Shalev SA, Adawi A, Sprecher E, Tenenbaum-Rakover Y
 タイトル      ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
 雑誌        Eur J Endocrinol 162:1021-5 (2010)
 DOI:<a href=""https://doi.org/10.1530/EJE-10-0077"">10.1530/EJE-10-0077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20174677"">20174677</a>
 著者        Freed EF, Bleichert F, Dutca LM, Baserga SJ
 タイトル      When ribosomes go bad: diseases of ribosome biogenesis.
 雑誌        Mol Biosyst 6:481-93 (2010)
 DOI:<a href=""https://doi.org/10.1039/b919670f"">10.1039/b919670f</a>"
H00622,"Hypoparathyroidism-retardation-dysmorphism 症候群;
 Sanjad-Sakati 症候群",,,"Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.",先天奇形,,TBCE [HSA:6905] [KO:K21768],,,,,,"ICD-11: LD24.D
 ICD-10: Q87.0
 MeSH: C537157
 OMIM: 241410","PMID:12389028
 著者        Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD
 タイトル      Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
 雑誌        Nat Genet 32:448-52 (2002)
 DOI:10.1038/ng1012
 PMID:16470743
 著者        Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nothen MM, Parvari R
 タイトル      Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
 雑誌        Am J Med Genet A 140:611-7 (2006)
 DOI:10.1002/ajmg.a.31122
 PMID:15852474
 著者        Al Tawil K, Shataiwi A, Mutair A, Eyaid W, Saif SA
 タイトル      Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.
 雑誌        Am J Med Genet A 135:200-1 (2005)
 DOI:10.1002/ajmg.a.30666","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00622"">H00622</a>","Hypoparathyroidism-retardation-dysmorphism 症候群;
 Sanjad-Sakati 症候群","Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.",,"TBCE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6905"">6905</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21768"">K21768</a>]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537157"">C537157</a>
 OMIM: <a href=""https://www.omim.org/entry/241410"">241410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12389028"">12389028</a>
 著者        Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD
 タイトル      Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
 雑誌        Nat Genet 32:448-52 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1012"">10.1038/ng1012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16470743"">16470743</a>
 著者        Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nothen MM, Parvari R
 タイトル      Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
 雑誌        Am J Med Genet A 140:611-7 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31122"">10.1002/ajmg.a.31122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15852474"">15852474</a>
 著者        Al Tawil K, Shataiwi A, Mutair A, Eyaid W, Saif SA
 タイトル      Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.
 雑誌        Am J Med Genet A 135:200-1 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30666"">10.1002/ajmg.a.30666</a>"
H00623,Hajdu-Cheney 症候群,,,"Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.",筋骨格疾患,,NOTCH2 [HSA:4853] [KO:K20994],,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: D031845
 OMIM: 102500","PMID:21681853
 著者        Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME
 タイトル      Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
 雑誌        Hum Mutat 32:1114-7 (2011)
 DOI:10.1002/humu.21546
 PMID:21378989
 著者        Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C
 タイトル      Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
 雑誌        Nat Genet 43:306-8 (2011)
 DOI:10.1038/ng.778
 PMID:11343321
 著者        Brennan AM, Pauli RM
 タイトル      Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
 雑誌        Am J Med Genet 100:292-310 (2001)
 DOI:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00623"">H00623</a>",Hajdu-Cheney 症候群,"Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.",,"NOTCH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4853"">4853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20994"">K20994</a>]",,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D031845"">D031845</a>
 OMIM: <a href=""https://www.omim.org/entry/102500"">102500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21681853"">21681853</a>
 著者        Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME
 タイトル      Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
 雑誌        Hum Mutat 32:1114-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21546"">10.1002/humu.21546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21378989"">21378989</a>
 著者        Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C
 タイトル      Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
 雑誌        Nat Genet 43:306-8 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.778"">10.1038/ng.778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11343321"">11343321</a>
 著者        Brennan AM, Pauli RM
 タイトル      Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
 雑誌        Am J Med Genet 100:292-310 (2001)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(20010515)100:"">10.1002/1096-8628(20010515)100:</a><a href=""https://doi.org/4<292:"">4<292:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1308>3.0.CO;2-4"">AID-AJMG1308>3.0.CO;2-4</a>"
H00624,進行性家族性肝内胆汁うっ滞,,,"Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.",消化器系疾患,,"(PFIC1) ATP8B1 [HSA:5205] [KO:K01530]
 (PFIC2) ABCB11 [HSA:8647] [KO:K05664]
 (PFIC3) ABCB4 [HSA:5244] [KO:K05659]
 (PFIC4) TJP2 [HSA:9414] [KO:K06098]
 (PFIC5) NR1H4 [HSA:9971] [KO:K08537]
 (PFIC6) SLC51A [HSA:200931] [KO:K14360]
 (PFIC7) USP53 [HSA:54532]
 (PFIC8) KIF12 [HSA:113220] [KO:K10399]",,,,,,"ICD-11: 5C58.03 5C52.11
 ICD-10: K83.1
 MeSH: D002780
 OMIM: 211600 601847 602347 615878 617049 619484 619658 619662","PMID:28195083
 著者        Gaur K, Sakhuja P
 タイトル      Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease.
 雑誌        Indian J Pathol Microbiol 60:2-7 (2017)
 DOI:10.4103/0377-4929.200040
 PMID:27785268
 著者        Amer S, Hajira A
 タイトル      A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters.
 雑誌        Gastroenterology Res 7:39-43 (2014)
 DOI:10.14740/gr609e
 PMID:9500542 (ATP8B1)
 著者        Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
 タイトル      A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
 雑誌        Nat Genet 18:219-24 (1998)
 DOI:10.1038/ng0398-219
 PMID:9806540 (ABCB11)
 著者        Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ
 タイトル      A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
 雑誌        Nat Genet 20:233-8 (1998)
 DOI:10.1038/3034
 PMID:9419367 (ABCB4)
 著者        de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M
 タイトル      Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
 雑誌        Proc Natl Acad Sci U S A 95:282-7 (1998)
 DOI:10.1073/pnas.95.1.282
 PMID:24614073 (TJP2)
 著者        Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ
 タイトル      Mutations in TJP2 cause progressive cholestatic liver disease.
 雑誌        Nat Genet 46:326-8 (2014)
 DOI:10.1038/ng.2918
 PMID:26888176 (NR1H4)
 著者        Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD
 タイトル      Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
 雑誌        Nat Commun 7:10713 (2016)
 DOI:10.1038/ncomms10713
 PMID:31863603 (SLC51A)
 著者        Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S
 タイトル      Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
 雑誌        Hepatology 71:1879-1882 (2020)
 DOI:10.1002/hep.31087
 PMID:32124521 (USP53)
 著者        Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS
 タイトル      Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
 雑誌        Liver Int 40:1142-1150 (2020)
 DOI:10.1111/liv.14422
 PMID:34555379 (KIF12)
 著者        Stalke A, Sgodda M, Cantz T, Skawran B, Lainka E, Hartleben B, Baumann U, Pfister ED
 タイトル      KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
 雑誌        J Pediatr 240:284-291.e9 (2022)
 DOI:10.1016/j.jpeds.2021.09.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00624"">H00624</a>",進行性家族性肝内胆汁うっ滞,"Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.",,"(PFIC1) ATP8B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5205"">5205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01530"">K01530</a>]
 (PFIC2) ABCB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8647"">8647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05664"">K05664</a>]
 (PFIC3) ABCB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5244"">5244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05659"">K05659</a>]
 (PFIC4) TJP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9414"">9414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06098"">K06098</a>]
 (PFIC5) NR1H4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9971"">9971</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08537"">K08537</a>]
 (PFIC6) SLC51A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200931"">200931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14360"">K14360</a>]
 (PFIC7) USP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54532"">54532</a>]
 (PFIC8) KIF12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113220"">113220</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10399"">K10399</a>]",,,,,,"ICD-11: 5C58.03 5C52.11
 ICD-10: K83.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002780"">D002780</a>
 OMIM: <a href=""https://www.omim.org/entry/211600"">211600</a> <a href=""https://www.omim.org/entry/601847"">601847</a> <a href=""https://www.omim.org/entry/602347"">602347</a> <a href=""https://www.omim.org/entry/615878"">615878</a> <a href=""https://www.omim.org/entry/617049"">617049</a> <a href=""https://www.omim.org/entry/619484"">619484</a> <a href=""https://www.omim.org/entry/619658"">619658</a> <a href=""https://www.omim.org/entry/619662"">619662</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28195083"">28195083</a>
 著者        Gaur K, Sakhuja P
 タイトル      Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease.
 雑誌        Indian J Pathol Microbiol 60:2-7 (2017)
 DOI:<a href=""https://doi.org/10.4103/0377-4929.200040"">10.4103/0377-4929.200040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27785268"">27785268</a>
 著者        Amer S, Hajira A
 タイトル      A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters.
 雑誌        Gastroenterology Res 7:39-43 (2014)
 DOI:<a href=""https://doi.org/10.14740/gr609e"">10.14740/gr609e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9500542"">9500542</a> (ATP8B1)
 著者        Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
 タイトル      A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
 雑誌        Nat Genet 18:219-24 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0398-219"">10.1038/ng0398-219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9806540"">9806540</a> (ABCB11)
 著者        Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ
 タイトル      A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
 雑誌        Nat Genet 20:233-8 (1998)
 DOI:<a href=""https://doi.org/10.1038/3034"">10.1038/3034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9419367"">9419367</a> (ABCB4)
 著者        de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M
 タイトル      Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
 雑誌        Proc Natl Acad Sci U S A 95:282-7 (1998)
 DOI:<a href=""https://doi.org/10.1073/pnas.95.1.282"">10.1073/pnas.95.1.282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24614073"">24614073</a> (TJP2)
 著者        Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ
 タイトル      Mutations in TJP2 cause progressive cholestatic liver disease.
 雑誌        Nat Genet 46:326-8 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2918"">10.1038/ng.2918</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26888176"">26888176</a> (NR1H4)
 著者        Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD
 タイトル      Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
 雑誌        Nat Commun 7:10713 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms10713"">10.1038/ncomms10713</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31863603"">31863603</a> (SLC51A)
 著者        Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S
 タイトル      Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
 雑誌        Hepatology 71:1879-1882 (2020)
 DOI:<a href=""https://doi.org/10.1002/hep.31087"">10.1002/hep.31087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32124521"">32124521</a> (USP53)
 著者        Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS
 タイトル      Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
 雑誌        Liver Int 40:1142-1150 (2020)
 DOI:<a href=""https://doi.org/10.1111/liv.14422"">10.1111/liv.14422</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34555379"">34555379</a> (KIF12)
 著者        Stalke A, Sgodda M, Cantz T, Skawran B, Lainka E, Hartleben B, Baumann U, Pfister ED
 タイトル      KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
 雑誌        J Pediatr 240:284-291.e9 (2022)
 DOI:<a href=""https://doi.org/10.1016/j.jpeds.2021.09.019"">10.1016/j.jpeds.2021.09.019</a>"
H00625,"歯数不足症
 下位グループ    歯の異常および低身長 (DASS)",,,"Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.",口腔および歯の疾患,,"(STHAG1) MSX1 [HSA:4487] [KO:K09341]
 (STHAG3) PAX9 [HSA:5083] [KO:K09382]
 (STHAG4) WNT10A [HSA:80326] [KO:K01357]
 (STHAG7) LRP6 [HSA:4040] [KO:K03068]
 (STHAG8) WNT10B [HSA:7480] [KO:K01357]
 (STHAG9) GREM2 [HSA:64388] [KO:K23318]
 (STHAGX1) EDA [HSA:1896] [KO:K05480]
 (DASS) LTBP3 [HSA:4054] [KO:K08023]",,,,,,"ICD-11: LA30.1
 ICD-10: K00.4
 MeSH: D000848
 OMIM: 106600 604625 150400 616724 617073 617275 313500 601216","PMID:29969831
 著者        Yu M, Wong SW, Han D, Cai T
 タイトル      Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.
 雑誌        Oral Dis 25:646-651 (2019)
 DOI:10.1111/odi.12931
 PMID:8696335 (STHAG1)
 著者        Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE
 タイトル      A human MSX1 homeodomain missense mutation causes selective tooth agenesis.
 雑誌        Nat Genet 13:417-21 (1996)
 DOI:10.1038/ng0896-417
 PMID:10615120 (STHAG3)
 著者        Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI
 タイトル      Mutation of PAX9 is associated with oligodontia.
 雑誌        Nat Genet 24:18-9 (2000)
 DOI:10.1038/71634
 PMID:24449199 (STHAG4)
 著者        Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N
 タイトル      WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations.
 雑誌        Am J Med Genet A 164A:353-9 (2014)
 DOI:10.1002/ajmg.a.36243
 PMID:26387593 (STHAG7)
 著者        Massink MP, Creton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G
 タイトル      Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
 雑誌        Am J Hum Genet 97:621-6 (2015)
 DOI:10.1016/j.ajhg.2015.08.014
 PMID:27321946 (STHAG8)
 著者        Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T
 タイトル      Mutations in WNT10B Are Identified in Individuals with Oligodontia.
 雑誌        Am J Hum Genet 99:195-201 (2016)
 DOI:10.1016/j.ajhg.2016.05.012
 PMID:26416033 (STHAG9)
 著者        Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns JR
 タイトル      GREMLIN 2 Mutations and Dental Anomalies.
 雑誌        J Dent Res 94:1646-52 (2015)
 DOI:10.1177/0022034515608168
 PMID:16583127 (STHAGX1)
 著者        Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L
 タイトル      A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
 雑誌        J Hum Genet 51:498-502 (2006)
 DOI:10.1007/s10038-006-0389-2
 PMID:19344874 (DASS)
 著者        Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB
 タイトル      Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
 雑誌        Am J Hum Genet 84:519-23 (2009)
 DOI:10.1016/j.ajhg.2009.03.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00625"">H00625</a>","歯数不足症
 下位グループ    歯の異常および低身長 (DASS)","Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.",,"(STHAG1) MSX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4487"">4487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09341"">K09341</a>]
 (STHAG3) PAX9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5083"">5083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09382"">K09382</a>]
 (STHAG4) WNT10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80326"">80326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01357"">K01357</a>]
 (STHAG7) LRP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4040"">4040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 (STHAG8) WNT10B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7480"">7480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01357"">K01357</a>]
 (STHAG9) GREM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64388"">64388</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23318"">K23318</a>]
 (STHAGX1) EDA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1896"">1896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05480"">K05480</a>]
 (DASS) LTBP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4054"">4054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]",,,,,,"ICD-11: LA30.1
 ICD-10: K00.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000848"">D000848</a>
 OMIM: <a href=""https://www.omim.org/entry/106600"">106600</a> <a href=""https://www.omim.org/entry/604625"">604625</a> <a href=""https://www.omim.org/entry/150400"">150400</a> <a href=""https://www.omim.org/entry/616724"">616724</a> <a href=""https://www.omim.org/entry/617073"">617073</a> <a href=""https://www.omim.org/entry/617275"">617275</a> <a href=""https://www.omim.org/entry/313500"">313500</a> <a href=""https://www.omim.org/entry/601216"">601216</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29969831"">29969831</a>
 著者        Yu M, Wong SW, Han D, Cai T
 タイトル      Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.
 雑誌        Oral Dis 25:646-651 (2019)
 DOI:<a href=""https://doi.org/10.1111/odi.12931"">10.1111/odi.12931</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8696335"">8696335</a> (STHAG1)
 著者        Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE
 タイトル      A human MSX1 homeodomain missense mutation causes selective tooth agenesis.
 雑誌        Nat Genet 13:417-21 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0896-417"">10.1038/ng0896-417</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10615120"">10615120</a> (STHAG3)
 著者        Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI
 タイトル      Mutation of PAX9 is associated with oligodontia.
 雑誌        Nat Genet 24:18-9 (2000)
 DOI:<a href=""https://doi.org/10.1038/71634"">10.1038/71634</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24449199"">24449199</a> (STHAG4)
 著者        Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N
 タイトル      WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations.
 雑誌        Am J Med Genet A 164A:353-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36243"">10.1002/ajmg.a.36243</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26387593"">26387593</a> (STHAG7)
 著者        Massink MP, Creton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G
 タイトル      Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
 雑誌        Am J Hum Genet 97:621-6 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.08.014"">10.1016/j.ajhg.2015.08.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27321946"">27321946</a> (STHAG8)
 著者        Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T
 タイトル      Mutations in WNT10B Are Identified in Individuals with Oligodontia.
 雑誌        Am J Hum Genet 99:195-201 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.012"">10.1016/j.ajhg.2016.05.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26416033"">26416033</a> (STHAG9)
 著者        Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns JR
 タイトル      GREMLIN 2 Mutations and Dental Anomalies.
 雑誌        J Dent Res 94:1646-52 (2015)
 DOI:<a href=""https://doi.org/10.1177/0022034515608168"">10.1177/0022034515608168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16583127"">16583127</a> (STHAGX1)
 著者        Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L
 タイトル      A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
 雑誌        J Hum Genet 51:498-502 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10038-006-0389-2"">10.1007/s10038-006-0389-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19344874"">19344874</a> (DASS)
 著者        Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB
 タイトル      Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
 雑誌        Am J Hum Genet 84:519-23 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.007"">10.1016/j.ajhg.2009.03.007</a>"
H00626,"巣状分節性糸球体硬化症
 下位グループ    巣状分節性糸球体硬化症および神経発達症候群 (FSGSNEDS)",,,"Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and secondary forms. The specific cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended.",泌尿器系疾患,,"(FSGS1) ACTN4 [HSA:81] [KO:K05699]
 (FSGS2) TRPC6 [HSA:7225] [KO:K04969]
 (FSGS3) CD2AP [HSA:23607] [KO:K13738]
 (FSGS4) APOL1 [HSA:8542] [KO:K23585]
 (FSGS5) INF2 [HSA:64423] [KO:K23958]
 (FSGS6) MYO1E [HSA:4643] [KO:K10356]
 (FSGS7) PAX2 [HSA:5076] [KO:K15608]
 (FSGS8) ANLN [HSA:54443] [KO:K18621]
 (FSGS9) CRB2 [HSA:286204] [KO:K16681]
 (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001]",,,,,"Congenital nephrotic syndrome (NS, H01657) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases.","ICD-11: MF8Y
 ICD-10: N05.1
 MeSH: D005923
 OMIM: 603278 603965 607832 612551 613237 614131 616002 616032 616220 619428","PMID:19562370
 著者        Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP
 タイトル      Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
 雑誌        Eur J Pediatr 168:1291-304 (2009)
 DOI:10.1007/s00431-009-1017-x
 PMID:14750104 (FSGS1)
 著者        D'Agati VD, Fogo AB, Bruijn JA, Jennette JC
 タイトル      Pathologic classification of focal segmental glomerulosclerosis: a working proposal.
 雑誌        Am J Kidney Dis 43:368-82 (2004)
 DOI:10.1053/j.ajkd.2003.10.024
 PMID:15879175 (FSGS2)
 著者        Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB
 タイトル      A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
 雑誌        Science 308:1801-4 (2005)
 DOI:10.1126/science.1106215
 PMID:17713465 (FSGS3)
 著者        Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP
 タイトル      Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
 雑誌        Kidney Int 72:1198-203 (2007)
 DOI:10.1038/sj.ki.5002469
 PMID:20647424 (FSGS4)
 著者        Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR
 タイトル      Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
 雑誌        Science 329:841-5 (2010)
 DOI:10.1126/science.1193032
 PMID:20023659 (FSGS5)
 著者        Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
 タイトル      Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
 雑誌        Nat Genet 42:72-6 (2010)
 DOI:10.1038/ng.505
 PMID:21756023 (FSGS6)
 著者        Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M
 タイトル      MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
 雑誌        N Engl J Med 365:295-306 (2011)
 DOI:10.1056/NEJMoa1101273
 PMID:24676634 (FSGS7)
 著者        Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR
 タイトル      Mutations in PAX2 associate with adult-onset FSGS.
 雑誌        J Am Soc Nephrol 25:1942-53 (2014)
 DOI:10.1681/ASN.2013070686
 PMID:24676636 (FSGS8)
 著者        Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP
 タイトル      Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
 雑誌        J Am Soc Nephrol 25:1991-2002 (2014)
 DOI:10.1681/ASN.2013090976
 PMID:25557779 (FSGS9)
 著者        Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A
 タイトル      Defects of CRB2 cause steroid-resistant nephrotic syndrome.
 雑誌        Am J Hum Genet 96:153-61 (2015)
 DOI:10.1016/j.ajhg.2014.11.014
 PMID:32531461 (FSGSNEDS)
 著者        McClatchey MA, du Toit ZD, Vaughan R, Whatley SD, Martins S, Hegde S, Naude JTW, Thomas DH, Griffiths DF, Genomics England Research Consortium, Clarke AJ, Fry AE
 タイトル      Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
 雑誌        Eur J Med Genet 63:103972 (2020)
 DOI:10.1016/j.ejmg.2020.103972","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00626"">H00626</a>","巣状分節性糸球体硬化症
 下位グループ    巣状分節性糸球体硬化症および神経発達症候群 (FSGSNEDS)","Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and secondary forms. The specific cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended.",,"(FSGS1) ACTN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81"">81</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05699"">K05699</a>]
 (FSGS2) TRPC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7225"">7225</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04969"">K04969</a>]
 (FSGS3) CD2AP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23607"">23607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13738"">K13738</a>]
 (FSGS4) APOL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8542"">8542</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23585"">K23585</a>]
 (FSGS5) INF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64423"">64423</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23958"">K23958</a>]
 (FSGS6) MYO1E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4643"">4643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10356"">K10356</a>]
 (FSGS7) PAX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5076"">5076</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15608"">K15608</a>]
 (FSGS8) ANLN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54443"">54443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18621"">K18621</a>]
 (FSGS9) CRB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286204"">286204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16681"">K16681</a>]
 (FSGSNEDS) TRIM8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81603"">81603</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12001"">K12001</a>]",,,,,"Congenital nephrotic syndrome (NS, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01657)"">H01657)</a> and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases.","ICD-11: MF8Y
 ICD-10: N05.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005923"">D005923</a>
 OMIM: <a href=""https://www.omim.org/entry/603278"">603278</a> <a href=""https://www.omim.org/entry/603965"">603965</a> <a href=""https://www.omim.org/entry/607832"">607832</a> <a href=""https://www.omim.org/entry/612551"">612551</a> <a href=""https://www.omim.org/entry/613237"">613237</a> <a href=""https://www.omim.org/entry/614131"">614131</a> <a href=""https://www.omim.org/entry/616002"">616002</a> <a href=""https://www.omim.org/entry/616032"">616032</a> <a href=""https://www.omim.org/entry/616220"">616220</a> <a href=""https://www.omim.org/entry/619428"">619428</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19562370"">19562370</a>
 著者        Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP
 タイトル      Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
 雑誌        Eur J Pediatr 168:1291-304 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00431-009-1017-x"">10.1007/s00431-009-1017-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14750104"">14750104</a> (FSGS1)
 著者        D'Agati VD, Fogo AB, Bruijn JA, Jennette JC
 タイトル      Pathologic classification of focal segmental glomerulosclerosis: a working proposal.
 雑誌        Am J Kidney Dis 43:368-82 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.ajkd.2003.10.024"">10.1053/j.ajkd.2003.10.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15879175"">15879175</a> (FSGS2)
 著者        Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB
 タイトル      A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
 雑誌        Science 308:1801-4 (2005)
 DOI:<a href=""https://doi.org/10.1126/science.1106215"">10.1126/science.1106215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17713465"">17713465</a> (FSGS3)
 著者        Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP
 タイトル      Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
 雑誌        Kidney Int 72:1198-203 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ki.5002469"">10.1038/sj.ki.5002469</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20647424"">20647424</a> (FSGS4)
 著者        Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR
 タイトル      Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
 雑誌        Science 329:841-5 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1193032"">10.1126/science.1193032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20023659"">20023659</a> (FSGS5)
 著者        Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
 タイトル      Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
 雑誌        Nat Genet 42:72-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.505"">10.1038/ng.505</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21756023"">21756023</a> (FSGS6)
 著者        Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M
 タイトル      MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
 雑誌        N Engl J Med 365:295-306 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1101273"">10.1056/NEJMoa1101273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24676634"">24676634</a> (FSGS7)
 著者        Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR
 タイトル      Mutations in PAX2 associate with adult-onset FSGS.
 雑誌        J Am Soc Nephrol 25:1942-53 (2014)
 DOI:<a href=""https://doi.org/10.1681/ASN.2013070686"">10.1681/ASN.2013070686</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24676636"">24676636</a> (FSGS8)
 著者        Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP
 タイトル      Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
 雑誌        J Am Soc Nephrol 25:1991-2002 (2014)
 DOI:<a href=""https://doi.org/10.1681/ASN.2013090976"">10.1681/ASN.2013090976</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25557779"">25557779</a> (FSGS9)
 著者        Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A
 タイトル      Defects of CRB2 cause steroid-resistant nephrotic syndrome.
 雑誌        Am J Hum Genet 96:153-61 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.11.014"">10.1016/j.ajhg.2014.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32531461"">32531461</a> (FSGSNEDS)
 著者        McClatchey MA, du Toit ZD, Vaughan R, Whatley SD, Martins S, Hegde S, Naude JTW, Thomas DH, Griffiths DF, Genomics England Research Consortium, Clarke AJ, Fry AE
 タイトル      Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
 雑誌        Eur J Med Genet 63:103972 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2020.103972"">10.1016/j.ejmg.2020.103972</a>"
H00627,早期卵巣機能不全,,,"Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF.",生殖系疾患,,"(POF1) FMR1 [HSA:2332] [KO:K15516]
 (POF2A) DIAPH2 [HSA:1730] [KO:K05741]
 (POF2B) POF1B [HSA:79983] [KO:K23917]
 (POF3) FOXL2 [HSA:668] [KO:K09405]
 (POF4) BMP15 [HSA:9210] [KO:K05498]
 (POF5) NOBOX [HSA:135935] [KO:K24199]
 (POF6) FIGLA [HSA:344018] [KO:K09066]
 (POF7) NR5A1 [HSA:2516] [KO:K08560]
 (POF8) STAG3 [HSA:10734] [KO:K13055]
 (POF9) HFM1 [HSA:164045] [KO:K15271]
 (POF10) MCM8 [HSA:84515] [KO:K10737]
 (POF11) ERCC6 [HSA:2074] [KO:K10841]
 (POF12) SYCE1 [HSA:93426] [KO:K19534]
 (POF13) MSH5 [HSA:4439] [KO:K08741]
 (POF14) GDF9 [HSA:2661] [KO:K22673]
 (POF15) FANCM [HSA:57697] [KO:K10896]
 (POF16) BNC1 [HSA:646] [KO:K24146]
 (POF17) XRCC2 [HSA:7516] [KO:K10879]
 (POF18) SIX6OS1 [HSA:317761] [KO:K25705]
 (POF19) HSF2BP [HSA:11077] [KO:K25791]",,"Mumps infection
 Galactosemia",,,"For galactosemia, see H00070.","ICD-11: GA30.6
 ICD-10: E28.3
 MeSH: D016649
 OMIM: 311360 300511 300604 608996 300510 611548 612310 612964 615723 615724 612885 616946 616947 617442 618014 618096 618723 619146 619203 619245","PMID:16722528
 著者        Beck-Peccoz P, Persani L
 タイトル      Premature ovarian failure.
 雑誌        Orphanet J Rare Dis 1:9 (2006)
 DOI:10.1186/1750-1172-1-9
 PMID:21188402
 著者        Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP
 タイトル      Genetic aspects of premature ovarian failure: a literature review.
 雑誌        Arch Gynecol Obstet 283:635-43 (2011)
 DOI:10.1007/s00404-010-1815-4
 PMID:16078053 (FMR1)
 著者        Bretherick KL, Fluker MR, Robinson WP
 タイトル      FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
 雑誌        Hum Genet 117:376-82 (2005)
 DOI:10.1007/s00439-005-1326-8
 PMID:9497258 (DIAPH2)
 著者        Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D
 タイトル      A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
 雑誌        Am J Hum Genet 62:533-41 (1998)
 DOI:10.1086/301761
 PMID:16773570 (POF1B)
 著者        Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E
 タイトル      Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
 雑誌        Am J Hum Genet 79:113-9 (2006)
 DOI:10.1086/505406
 PMID:12149404 (FOXL2)
 著者        Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN
 タイトル      Identification of novel mutations in FOXL2 associated with premature ovarian failure.
 雑誌        Mol Hum Reprod 8:729-33 (2002)
 DOI:10.1093/molehr/8.8.729
 PMID:16464940 (BMP15)
 著者        Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM, Persani L
 タイトル      Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
 雑誌        J Clin Endocrinol Metab 91:1976-9 (2006)
 DOI:10.1210/jc.2005-2650
 PMID:17701902 (NOBOX)
 著者        Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A
 タイトル      NOBOX homeobox mutation causes premature ovarian failure.
 雑誌        Am J Hum Genet 81:576-81 (2007)
 DOI:10.1086/519496
 PMID:18499083 (FIGLA)
 著者        Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A
 タイトル      Transcription factor FIGLA is mutated in patients with premature ovarian failure.
 雑誌        Am J Hum Genet 82:1342-8 (2008)
 DOI:10.1016/j.ajhg.2008.04.018
 PMID:19246354 (NR5A1)
 著者        Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A
 タイトル      Mutations in NR5A1 associated with ovarian insufficiency.
 雑誌        N Engl J Med 360:1200-10 (2009)
 DOI:10.1056/NEJMoa0806228
 PMID:24597867 (STAG3)
 著者        Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E
 タイトル      Mutant cohesin in premature ovarian failure.
 雑誌        N Engl J Med 370:943-949 (2014)
 DOI:10.1056/NEJMoa1309635
 PMID:24597873 (HFM1)
 著者        Wang J, Zhang W, Jiang H, Wu BL
 タイトル      Mutations in HFM1 in recessive primary ovarian insufficiency.
 雑誌        N Engl J Med 370:972-4 (2014)
 DOI:10.1056/NEJMc1310150
 PMID:25437880 (MCM8)
 著者        AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A
 タイトル      Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
 雑誌        J Clin Invest 125:258-62 (2015)
 DOI:10.1172/JCI78473
 PMID:26218421 (ERCC6)
 著者        Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen ZJ
 タイトル      CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
 雑誌        PLoS Genet 11:e1005419 (2015)
 DOI:10.1371/journal.pgen.1005419
 PMID:25062452 (SYCE1)
 著者        de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L
 タイトル      Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
 雑誌        J Clin Endocrinol Metab 99:E2129-32 (2014)
 DOI:10.1210/jc.2014-1268
 PMID:28175301 (MSH5)
 著者        Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen ZJ
 タイトル      Mutations in MSH5 in primary ovarian insufficiency.
 雑誌        Hum Mol Genet 26:1452-1457 (2017)
 DOI:10.1093/hmg/ddx044
 PMID:29044499 (GDF9)
 著者        Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB
 タイトル      Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
 雑誌        Clin Genet 93:408-411 (2018)
 DOI:10.1111/cge.13156
 PMID:29231814 (FANCM)
 著者        Fouquet B, Pawlikowska P, Caburet S, Guigon C, Makinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M
 タイトル      A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
 雑誌        Elife 6:e30490 (2017)
 DOI:10.7554/eLife.30490
 PMID:30010909 (BNC1)
 著者        Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H
 タイトル      Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
 雑誌        Hum Mol Genet 27:3787-3800 (2018)
 DOI:10.1093/hmg/ddy261
 PMID:30489636 (XRCC2)
 著者        Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ
 タイトル      XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans.
 雑誌        Clin Genet 95:442-443 (2019)
 DOI:10.1111/cge.13475
 PMID:33508233 (SIX6OS1)
 著者        Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q
 タイトル      Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
 雑誌        Am J Hum Genet 108:324-336 (2021)
 DOI:10.1016/j.ajhg.2021.01.010
 PMID:32845237 (HSF2BP)
 著者        Felipe-Medina N, Caburet S, Sanchez-Saez F, Condezo YB, de Rooij DG, Gomez-H L, Garcia-Valiente R, Todeschini AL, Duque P, Sanchez-Martin MA, Shalev SA, Llano E, Veitia RA, Pendas AM
 タイトル      A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.
 雑誌        Elife 9:e56996 (2020)
 DOI:10.7554/eLife.56996","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00627"">H00627</a>",早期卵巣機能不全,"Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF.",,"(POF1) FMR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2332"">2332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15516"">K15516</a>]
 (POF2A) DIAPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1730"">1730</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05741"">K05741</a>]
 (POF2B) POF1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79983"">79983</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23917"">K23917</a>]
 (POF3) FOXL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:668"">668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09405"">K09405</a>]
 (POF4) BMP15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9210"">9210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05498"">K05498</a>]
 (POF5) NOBOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:135935"">135935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24199"">K24199</a>]
 (POF6) FIGLA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:344018"">344018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09066"">K09066</a>]
 (POF7) NR5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2516"">2516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08560"">K08560</a>]
 (POF8) STAG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10734"">10734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13055"">K13055</a>]
 (POF9) HFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:164045"">164045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15271"">K15271</a>]
 (POF10) MCM8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84515"">84515</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10737"">K10737</a>]
 (POF11) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (POF12) SYCE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93426"">93426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19534"">K19534</a>]
 (POF13) MSH5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4439"">4439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08741"">K08741</a>]
 (POF14) GDF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2661"">2661</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22673"">K22673</a>]
 (POF15) FANCM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57697"">57697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10896"">K10896</a>]
 (POF16) BNC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:646"">646</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24146"">K24146</a>]
 (POF17) XRCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7516"">7516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10879"">K10879</a>]
 (POF18) SIX6OS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:317761"">317761</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25705"">K25705</a>]
 (POF19) HSF2BP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11077"">11077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25791"">K25791</a>]",,"Mumps infection
 Galactosemia",,,"For galactosemia, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00070."">H00070.</a>","ICD-11: GA30.6
 ICD-10: E28.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016649"">D016649</a>
 OMIM: <a href=""https://www.omim.org/entry/311360"">311360</a> <a href=""https://www.omim.org/entry/300511"">300511</a> <a href=""https://www.omim.org/entry/300604"">300604</a> <a href=""https://www.omim.org/entry/608996"">608996</a> <a href=""https://www.omim.org/entry/300510"">300510</a> <a href=""https://www.omim.org/entry/611548"">611548</a> <a href=""https://www.omim.org/entry/612310"">612310</a> <a href=""https://www.omim.org/entry/612964"">612964</a> <a href=""https://www.omim.org/entry/615723"">615723</a> <a href=""https://www.omim.org/entry/615724"">615724</a> <a href=""https://www.omim.org/entry/612885"">612885</a> <a href=""https://www.omim.org/entry/616946"">616946</a> <a href=""https://www.omim.org/entry/616947"">616947</a> <a href=""https://www.omim.org/entry/617442"">617442</a> <a href=""https://www.omim.org/entry/618014"">618014</a> <a href=""https://www.omim.org/entry/618096"">618096</a> <a href=""https://www.omim.org/entry/618723"">618723</a> <a href=""https://www.omim.org/entry/619146"">619146</a> <a href=""https://www.omim.org/entry/619203"">619203</a> <a href=""https://www.omim.org/entry/619245"">619245</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722528"">16722528</a>
 著者        Beck-Peccoz P, Persani L
 タイトル      Premature ovarian failure.
 雑誌        Orphanet J Rare Dis 1:9 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-9"">10.1186/1750-1172-1-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21188402"">21188402</a>
 著者        Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP
 タイトル      Genetic aspects of premature ovarian failure: a literature review.
 雑誌        Arch Gynecol Obstet 283:635-43 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00404-010-1815-4"">10.1007/s00404-010-1815-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16078053"">16078053</a> (FMR1)
 著者        Bretherick KL, Fluker MR, Robinson WP
 タイトル      FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
 雑誌        Hum Genet 117:376-82 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1326-8"">10.1007/s00439-005-1326-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9497258"">9497258</a> (DIAPH2)
 著者        Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D
 タイトル      A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
 雑誌        Am J Hum Genet 62:533-41 (1998)
 DOI:<a href=""https://doi.org/10.1086/301761"">10.1086/301761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16773570"">16773570</a> (POF1B)
 著者        Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E
 タイトル      Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
 雑誌        Am J Hum Genet 79:113-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/505406"">10.1086/505406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12149404"">12149404</a> (FOXL2)
 著者        Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN
 タイトル      Identification of novel mutations in FOXL2 associated with premature ovarian failure.
 雑誌        Mol Hum Reprod 8:729-33 (2002)
 DOI:<a href=""https://doi.org/10.1093/molehr/8.8.729"">10.1093/molehr/8.8.729</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16464940"">16464940</a> (BMP15)
 著者        Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM, Persani L
 タイトル      Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
 雑誌        J Clin Endocrinol Metab 91:1976-9 (2006)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-2650"">10.1210/jc.2005-2650</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701902"">17701902</a> (NOBOX)
 著者        Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A
 タイトル      NOBOX homeobox mutation causes premature ovarian failure.
 雑誌        Am J Hum Genet 81:576-81 (2007)
 DOI:<a href=""https://doi.org/10.1086/519496"">10.1086/519496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18499083"">18499083</a> (FIGLA)
 著者        Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A
 タイトル      Transcription factor FIGLA is mutated in patients with premature ovarian failure.
 雑誌        Am J Hum Genet 82:1342-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.04.018"">10.1016/j.ajhg.2008.04.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246354"">19246354</a> (NR5A1)
 著者        Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A
 タイトル      Mutations in NR5A1 associated with ovarian insufficiency.
 雑誌        N Engl J Med 360:1200-10 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0806228"">10.1056/NEJMoa0806228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24597867"">24597867</a> (STAG3)
 著者        Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E
 タイトル      Mutant cohesin in premature ovarian failure.
 雑誌        N Engl J Med 370:943-949 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1309635"">10.1056/NEJMoa1309635</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24597873"">24597873</a> (HFM1)
 著者        Wang J, Zhang W, Jiang H, Wu BL
 タイトル      Mutations in HFM1 in recessive primary ovarian insufficiency.
 雑誌        N Engl J Med 370:972-4 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMc1310150"">10.1056/NEJMc1310150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25437880"">25437880</a> (MCM8)
 著者        AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A
 タイトル      Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
 雑誌        J Clin Invest 125:258-62 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI78473"">10.1172/JCI78473</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26218421"">26218421</a> (ERCC6)
 著者        Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen ZJ
 タイトル      CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
 雑誌        PLoS Genet 11:e1005419 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005419"">10.1371/journal.pgen.1005419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25062452"">25062452</a> (SYCE1)
 著者        de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L
 タイトル      Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
 雑誌        J Clin Endocrinol Metab 99:E2129-32 (2014)
 DOI:<a href=""https://doi.org/10.1210/jc.2014-1268"">10.1210/jc.2014-1268</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28175301"">28175301</a> (MSH5)
 著者        Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen ZJ
 タイトル      Mutations in MSH5 in primary ovarian insufficiency.
 雑誌        Hum Mol Genet 26:1452-1457 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx044"">10.1093/hmg/ddx044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29044499"">29044499</a> (GDF9)
 著者        Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB
 タイトル      Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
 雑誌        Clin Genet 93:408-411 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13156"">10.1111/cge.13156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29231814"">29231814</a> (FANCM)
 著者        Fouquet B, Pawlikowska P, Caburet S, Guigon C, Makinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M
 タイトル      A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
 雑誌        Elife 6:e30490 (2017)
 DOI:<a href=""https://doi.org/10.7554/eLife.30490"">10.7554/eLife.30490</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30010909"">30010909</a> (BNC1)
 著者        Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H
 タイトル      Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
 雑誌        Hum Mol Genet 27:3787-3800 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy261"">10.1093/hmg/ddy261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30489636"">30489636</a> (XRCC2)
 著者        Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ
 タイトル      XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans.
 雑誌        Clin Genet 95:442-443 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13475"">10.1111/cge.13475</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33508233"">33508233</a> (SIX6OS1)
 著者        Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q
 タイトル      Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
 雑誌        Am J Hum Genet 108:324-336 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.01.010"">10.1016/j.ajhg.2021.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32845237"">32845237</a> (HSF2BP)
 著者        Felipe-Medina N, Caburet S, Sanchez-Saez F, Condezo YB, de Rooij DG, Gomez-H L, Garcia-Valiente R, Todeschini AL, Duque P, Sanchez-Martin MA, Shalev SA, Llano E, Veitia RA, Pendas AM
 タイトル      A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.
 雑誌        Elife 9:e56996 (2020)
 DOI:<a href=""https://doi.org/10.7554/eLife.56996"">10.7554/eLife.56996</a>"
H00628,"先天性胆汁酸代謝異常症
 下位グループ    脳腱黄色腫症 [DS:H00151]
 ツェルウエーガー症候群 [DS:H01342]",,,"Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults.",先天性代謝異常症,nt06022  Bile acid biosynthesis,"(CBAS1) HSD3B7 [HSA:80270] [KO:K12408]
 (CBAS2) AKR1D1 [HSA:6718] [KO:K00251]
 (CBAS3) CYP7B1 [HSA:9420] [KO:K07430]
 (CBAS4) AMACR [HSA:23600] [KO:K01796]
 (CBAS5) ABCD3 [HSA:5825] [KO:K05677]
 (CBAS6) ACOX2 [HSA:8309] [KO:K10214]",,,,,Cerebrotendinous xanthomatosis [DS:H00151] and Zellweger syndrome [DS:H00205] are also involved disorders in bile acid synthesis.,"ICD-11: 5C52.11
 ICD-10: K76.8
 MeSH: C535442 C535443 C566340 C535444 C563673 C567703
 OMIM: 607765 235555 613812 214950 213700 616278 617308","PMID:18577977
 著者        Sundaram SS, Bove KE, Lovell MA, Sokol RJ
 タイトル      Mechanisms of disease: Inborn errors of bile acid synthesis.
 雑誌        Nat Clin Pract Gastroenterol Hepatol 5:456-68 (2008)
 DOI:10.1038/ncpgasthep1179
 PMID:15937079
 著者        van Mil SW, Houwen RH, Klomp LW
 タイトル      Genetics of familial intrahepatic cholestasis syndromes.
 雑誌        J Med Genet 42:449-63 (2005)
 DOI:10.1136/jmg.2004.026187
 PMID:25168382
 著者        Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gokcay G, Wanders RJ, Valle D
 タイトル      A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
 雑誌        Hum Mol Genet 24:361-70 (2015)
 DOI:10.1093/hmg/ddu448
 PMID:27884763
 著者        Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG
 タイトル      ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
 雑誌        J Hepatol 66:581-588 (2017)
 DOI:10.1016/j.jhep.2016.11.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00628"">H00628</a>","先天性胆汁酸代謝異常症
 下位グループ    脳腱黄色腫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00151"">H00151</a>]
 ツェルウエーガー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01342"">H01342</a>]","Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults.","<a href=""https://www.kegg.jp/network/nt06022"">nt06022</a>  Bile acid biosynthesis","(CBAS1) HSD3B7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80270"">80270</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12408"">K12408</a>]
 (CBAS2) AKR1D1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6718"">6718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00251"">K00251</a>]
 (CBAS3) CYP7B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9420"">9420</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07430"">K07430</a>]
 (CBAS4) AMACR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23600"">23600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01796"">K01796</a>]
 (CBAS5) ABCD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5825"">5825</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05677"">K05677</a>]
 (CBAS6) ACOX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8309"">8309</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10214"">K10214</a>]",,,,,"Cerebrotendinous xanthomatosis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00151"">H00151</a>] and Zellweger syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>] are also involved disorders in bile acid synthesis.","ICD-11: 5C52.11
 ICD-10: K76.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535442"">C535442</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535443"">C535443</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566340"">C566340</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535444"">C535444</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563673"">C563673</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567703"">C567703</a>
 OMIM: <a href=""https://www.omim.org/entry/607765"">607765</a> <a href=""https://www.omim.org/entry/235555"">235555</a> <a href=""https://www.omim.org/entry/613812"">613812</a> <a href=""https://www.omim.org/entry/214950"">214950</a> <a href=""https://www.omim.org/entry/213700"">213700</a> <a href=""https://www.omim.org/entry/616278"">616278</a> <a href=""https://www.omim.org/entry/617308"">617308</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18577977"">18577977</a>
 著者        Sundaram SS, Bove KE, Lovell MA, Sokol RJ
 タイトル      Mechanisms of disease: Inborn errors of bile acid synthesis.
 雑誌        Nat Clin Pract Gastroenterol Hepatol 5:456-68 (2008)
 DOI:<a href=""https://doi.org/10.1038/ncpgasthep1179"">10.1038/ncpgasthep1179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15937079"">15937079</a>
 著者        van Mil SW, Houwen RH, Klomp LW
 タイトル      Genetics of familial intrahepatic cholestasis syndromes.
 雑誌        J Med Genet 42:449-63 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.026187"">10.1136/jmg.2004.026187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25168382"">25168382</a>
 著者        Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gokcay G, Wanders RJ, Valle D
 タイトル      A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
 雑誌        Hum Mol Genet 24:361-70 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu448"">10.1093/hmg/ddu448</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27884763"">27884763</a>
 著者        Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG
 タイトル      ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
 雑誌        J Hepatol 66:581-588 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jhep.2016.11.005"">10.1016/j.jhep.2016.11.005</a>"
H00629,無手足症,,,"Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait.",先天奇形,,LMBR1 (deletion) [HSA:64327] [KO:K25217],,,,,,"ICD-11: LB9B
 ICD-10: Q74.8
 MeSH: C536014
 OMIM: 200500","PMID:11090342
 著者        Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P
 タイトル      Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
 雑誌        Am J Hum Genet 68:38-45 (2001)
 DOI:10.1086/316955
 PMID:517582
 著者        Marcallo FA, Pilotto RF, Freire-Maia A
 タイトル      Genetics of acheiropodia (""the handless and footless families of Brazil""): XI. Pathologic aspects.
 雑誌        Am J Med Genet 4:287-91 (1979)
 DOI:10.1002/ajmg.1320040312
 PMID:7018242
 著者        Freire-Maia A
 タイトル      Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia.
 雑誌        Am J Med Genet 9:31-41 (1981)
 DOI:10.1002/ajmg.1320090108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00629"">H00629</a>",無手足症,"Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait.",,"LMBR1 (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64327"">64327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25217"">K25217</a>]",,,,,,"ICD-11: LB9B
 ICD-10: Q74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536014"">C536014</a>
 OMIM: <a href=""https://www.omim.org/entry/200500"">200500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11090342"">11090342</a>
 著者        Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P
 タイトル      Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
 雑誌        Am J Hum Genet 68:38-45 (2001)
 DOI:<a href=""https://doi.org/10.1086/316955"">10.1086/316955</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/517582"">517582</a>
 著者        Marcallo FA, Pilotto RF, Freire-Maia A
 タイトル      Genetics of acheiropodia (""the handless and footless families of Brazil""): XI. Pathologic aspects.
 雑誌        Am J Med Genet 4:287-91 (1979)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320040312"">10.1002/ajmg.1320040312</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7018242"">7018242</a>
 著者        Freire-Maia A
 タイトル      Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia.
 雑誌        Am J Med Genet 9:31-41 (1981)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320090108"">10.1002/ajmg.1320090108</a>"
H00630,"関節リウマチ
 下位グループ    若年性関節リウマチ (JIA) [DS:H01672]",,,"Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular decalcification, subsequently resulting in impaired joint function. It is more common between the ages of 35 and 50 years, affecting three times more women than men. Susceptibility to RA is genetically determined with multiple genes contributing. Inheritance of HLA DRB1 alleles encoding a distinctive five-amino-acid sequence known as the ""shared epitope"" (SE) is the best characterized genetic risk factor. The mechanism by which the SE alleles contribute to the development of RA is not very clear. It has been postulated that the presence of these conserved sequences in the antigen-binding groove alters the way antigenic peptides are bound to and presented to T-cell lymphocytes. This, in turn, may trigger abnormal immune responses and lead to RA.",免疫系疾患,,"HLA-DRB1 [HSA:3123] [KO:K06752]
 PTPN22 [HSA:26191] [KO:K18024]
 CIITA [HSA:4261] [KO:K08060]
 CD244 [HSA:51744] [KO:K06582]
 SLC22A4 [HSA:6583] [KO:K08202]
 IRF5 [HSA:3663] [KO:K09446]
 NFKBIL1 [HSA:4795] [KO:K09256]
 IL10 [HSA:3586] [KO:K05443]
 (JIA) IL6 [HSA:3569] [KO:K05405]
 (JIA) MIF [HSA:4282] [KO:K07253]",,,,"アスピリン [DR:D00109]
 インドメタシン [DR:D00141]
 イブプロフェン [DR:D00126]
 ナプロキセン [DR:D00118]
 セレコキシブ [DR:D00567]
 エトドラク [DR:D00315]
 ピロキシカム [DR:D00127]
 ロルノキシカム [DR:D01866]
 メロキシカム [DR:D00969]
 ケトプロフェン [DR:D00132]
 フルルビプロフェン [DR:D00330]
 オキサプロジン [DR:D00463]
 ロキソプロフェンナトリウム水和物 [DR:D01709]
 プラノプロフェン [DR:D01578]
 アクタリット [DR:D01395]
 アンピロキシカム [DR:D01397]
 ザルトプロフェン [DR:D01547]
 ブコローム [DR:D01661]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 精製ヒアルロン酸ナトリウム [DR:D03354]
 タクロリムス水和物 [DR:D00107]
 インフリキシマブ [DR:D02598]
 テトラコサクチド酢酸塩 [DR:D02105]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 ベタメタゾン酢酸エステル・ベタメタゾンリン酸エステルナトリウム [DR:D04446]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ヘパリン類似物質・副腎エキス・サリチル酸 [DR:D04800]
 ペニシラミン [DR:D00496]
 メトトレキサート [DR:D00142]
 レフルノミド [DR:D00749]
 アバタセプト [DR:D03203]
 トファシチニブクエン酸塩 [DR:D09783]
 バリシチニブ [DR:D10308]
 ウパダシチニブ水和物 [DR:D11048]
 フィルゴチニブマレイン酸塩 [DR:D11106]
 ペフィシチニブ臭化水素酸塩 [DR:D10721]
 エタネルセプト [DR:D00742]
 アダリムマブ [DR:D02597]
 セルトリズマブペゴル [DR:D03441]
 ゴリムマブ [DR:D04358]
 サリルマブ [DR:D10161]
 デノスマブ [DR:D03684]
 イグラチモド [DR:D01146]
 ミゾリビン [DR:D01392]
 金チオリンゴ酸ナトリウム [DR:D00992]
 オーラノフィン [DR:D00237]
 ブシラミン [DR:D01809]
 越婢加朮湯 [DR:D06921]
 葛根加朮附湯 [DR:D06927]
 桂枝加朮附湯 [DR:D06944]
 桂枝湯 [DR:D06947]
 桂芍知母湯 [DR:D06951]
 芍薬甘草附子湯 [DR:D06980]
 大防風湯 [DR:D07007]
 防已黄耆湯エキス [DR:D07040]
 麻黄湯エキス [DR:D07042]
 麻杏薏甘湯 [DR:D07045]
 サラゾスルファピリジン [DR:D00448]
 トシリズマブ [DR:D02596]",,"ICD-11: FA20
 ICD-10: M05
 MeSH: D001172
 OMIM: 180300 604302","PMID:27338350
 著者        Chung IM, Ketharnathan S, Thiruvengadam M, Rajakumar G
 タイトル      Rheumatoid Arthritis: The Stride from Research to Clinical Practice.
 雑誌        Int J Mol Sci 17:E900 (2016)
 DOI:10.3390/ijms17060900
 PMID:22704962
 著者        Boissier MC, Semerano L, Challal S, Saidenberg-Kermanac'h N, Falgarone G
 タイトル      Rheumatoid arthritis: from autoimmunity to synovitis and joint destruction.
 雑誌        J Autoimmun 39:222-8 (2012)
 DOI:10.1016/j.jaut.2012.05.021
 PMID:14608356
 著者        Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K
 タイトル      An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
 雑誌        Nat Genet 35:341-8 (2003)
 DOI:10.1038/ng1267
 PMID:20980283
 著者        Dawidowicz K, Allanore Y, Guedj M, Pierlot C, Bombardieri S, Balsa A, Westhovens R, Barrera P, Alves H, Teixeira VH, Petit-Teixeira E, van de Putte L, van Riel P, Prum B, Bardin T, Meyer O, Cornelis F, Dieude P
 タイトル      The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype.
 雑誌        Ann Rheum Dis 70:117-21 (2011)
 DOI:10.1136/ard.2010.129171
 PMID:15208781
 著者        Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK
 タイトル      A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
 雑誌        Am J Hum Genet 75:330-7 (2004)
 DOI:10.1086/422827
 PMID:17665434
 著者        Marinou I, Healy J, Mewar D, Moore DJ, Dickson MC, Binks MH, Montgomery DS, Walters K, Wilson AG
 タイトル      Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
 雑誌        Arthritis Rheum 56:2549-56 (2007)
 DOI:10.1002/art.22814
 PMID:15821736
 著者        Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T
 タイトル      MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.
 雑誌        Nat Genet 37:486-94 (2005)
 DOI:10.1038/ng1544
 PMID:12509789
 著者        Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
 タイトル      Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.
 雑誌        Am J Hum Genet 72:303-12 (2003)
 DOI:10.1086/346067
 PMID:18794858
 著者        Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K
 タイトル      Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
 雑誌        Nat Genet 40:1224-9 (2008)
 DOI:10.1038/ng.205","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00630"">H00630</a>","関節リウマチ
 下位グループ    若年性関節リウマチ (JIA) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01672"">H01672</a>]","Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular decalcification, subsequently resulting in impaired joint function. It is more common between the ages of 35 and 50 years, affecting three times more women than men. Susceptibility to RA is genetically determined with multiple genes contributing. Inheritance of HLA DRB1 alleles encoding a distinctive five-amino-acid sequence known as the ""shared epitope"" (SE) is the best characterized genetic risk factor. The mechanism by which the SE alleles contribute to the development of RA is not very clear. It has been postulated that the presence of these conserved sequences in the antigen-binding groove alters the way antigenic peptides are bound to and presented to T-cell lymphocytes. This, in turn, may trigger abnormal immune responses and lead to RA.",,"HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 PTPN22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26191"">26191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18024"">K18024</a>]
 CIITA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4261"">4261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08060"">K08060</a>]
 CD244 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51744"">51744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06582"">K06582</a>]
 SLC22A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6583"">6583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08202"">K08202</a>]
 IRF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3663"">3663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09446"">K09446</a>]
 NFKBIL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4795"">4795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09256"">K09256</a>]
 IL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 (JIA) IL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3569"">3569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05405"">K05405</a>]
 (JIA) MIF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4282"">4282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07253"">K07253</a>]",,,,"アスピリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00109"">D00109</a>]
 インドメタシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00141"">D00141</a>]
 イブプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00126"">D00126</a>]
 ナプロキセン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00118"">D00118</a>]
 セレコキシブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00567"">D00567</a>]
 エトドラク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00315"">D00315</a>]
 ピロキシカム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00127"">D00127</a>]
 ロルノキシカム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01866"">D01866</a>]
 メロキシカム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00969"">D00969</a>]
 ケトプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00132"">D00132</a>]
 フルルビプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00330"">D00330</a>]
 オキサプロジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00463"">D00463</a>]
 ロキソプロフェンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01709"">D01709</a>]
 プラノプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01578"">D01578</a>]
 アクタリット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01395"">D01395</a>]
 アンピロキシカム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01397"">D01397</a>]
 ザルトプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01547"">D01547</a>]
 ブコローム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01661"">D01661</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 精製ヒアルロン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03354"">D03354</a>]
 タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 テトラコサクチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02105"">D02105</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 ベタメタゾン酢酸エステル・ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04446"">D04446</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ヘパリン類似物質・副腎エキス・サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04800"">D04800</a>]
 ペニシラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00496"">D00496</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 レフルノミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00749"">D00749</a>]
 アバタセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03203"">D03203</a>]
 トファシチニブクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09783"">D09783</a>]
 バリシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10308"">D10308</a>]
 ウパダシチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11048"">D11048</a>]
 フィルゴチニブマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11106"">D11106</a>]
 ペフィシチニブ臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10721"">D10721</a>]
 エタネルセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00742"">D00742</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 セルトリズマブペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03441"">D03441</a>]
 ゴリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04358"">D04358</a>]
 サリルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10161"">D10161</a>]
 デノスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03684"">D03684</a>]
 イグラチモド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01146"">D01146</a>]
 ミゾリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01392"">D01392</a>]
 金チオリンゴ酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00992"">D00992</a>]
 オーラノフィン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00237"">D00237</a>]
 ブシラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01809"">D01809</a>]
 越婢加朮湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06921"">D06921</a>]
 葛根加朮附湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06927"">D06927</a>]
 桂枝加朮附湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06944"">D06944</a>]
 桂枝湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06947"">D06947</a>]
 桂芍知母湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06951"">D06951</a>]
 芍薬甘草附子湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06980"">D06980</a>]
 大防風湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07007"">D07007</a>]
 防已黄耆湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07040"">D07040</a>]
 麻黄湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07042"">D07042</a>]
 麻杏薏甘湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07045"">D07045</a>]
 サラゾスルファピリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00448"">D00448</a>]
 トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]",,"ICD-11: FA20
 ICD-10: M05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001172"">D001172</a>
 OMIM: <a href=""https://www.omim.org/entry/180300"">180300</a> <a href=""https://www.omim.org/entry/604302"">604302</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27338350"">27338350</a>
 著者        Chung IM, Ketharnathan S, Thiruvengadam M, Rajakumar G
 タイトル      Rheumatoid Arthritis: The Stride from Research to Clinical Practice.
 雑誌        Int J Mol Sci 17:E900 (2016)
 DOI:<a href=""https://doi.org/10.3390/ijms17060900"">10.3390/ijms17060900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22704962"">22704962</a>
 著者        Boissier MC, Semerano L, Challal S, Saidenberg-Kermanac'h N, Falgarone G
 タイトル      Rheumatoid arthritis: from autoimmunity to synovitis and joint destruction.
 雑誌        J Autoimmun 39:222-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2012.05.021"">10.1016/j.jaut.2012.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14608356"">14608356</a>
 著者        Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K
 タイトル      An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
 雑誌        Nat Genet 35:341-8 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1267"">10.1038/ng1267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20980283"">20980283</a>
 著者        Dawidowicz K, Allanore Y, Guedj M, Pierlot C, Bombardieri S, Balsa A, Westhovens R, Barrera P, Alves H, Teixeira VH, Petit-Teixeira E, van de Putte L, van Riel P, Prum B, Bardin T, Meyer O, Cornelis F, Dieude P
 タイトル      The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype.
 雑誌        Ann Rheum Dis 70:117-21 (2011)
 DOI:<a href=""https://doi.org/10.1136/ard.2010.129171"">10.1136/ard.2010.129171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15208781"">15208781</a>
 著者        Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK
 タイトル      A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
 雑誌        Am J Hum Genet 75:330-7 (2004)
 DOI:<a href=""https://doi.org/10.1086/422827"">10.1086/422827</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17665434"">17665434</a>
 著者        Marinou I, Healy J, Mewar D, Moore DJ, Dickson MC, Binks MH, Montgomery DS, Walters K, Wilson AG
 タイトル      Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
 雑誌        Arthritis Rheum 56:2549-56 (2007)
 DOI:<a href=""https://doi.org/10.1002/art.22814"">10.1002/art.22814</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15821736"">15821736</a>
 著者        Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T
 タイトル      MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.
 雑誌        Nat Genet 37:486-94 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1544"">10.1038/ng1544</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12509789"">12509789</a>
 著者        Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
 タイトル      Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.
 雑誌        Am J Hum Genet 72:303-12 (2003)
 DOI:<a href=""https://doi.org/10.1086/346067"">10.1086/346067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18794858"">18794858</a>
 著者        Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K
 タイトル      Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
 雑誌        Nat Genet 40:1224-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.205"">10.1038/ng.205</a>"
H00631,Cornelia de Lange 症候群,,,"Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.",先天奇形,,"(CDLS1) NIPBL [HSA:25836] [KO:K06672]
 (CDLS2) SMC1A [HSA:8243] [KO:K06636]
 (CDLS3) SMC3 [HSA:9126] [KO:K06669]
 (CDLS4) RAD21 [HSA:5885] [KO:K06670]
 (CDLS5) HDAC8 [HSA:55869] [KO:K11405]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: D003635
 OMIM: 122470 300590 610759 614701 300882","PMID:19793304
 著者        Liu J, Krantz ID
 タイトル      Cornelia de Lange syndrome, cohesin, and beyond.
 雑誌        Clin Genet 76:303-14 (2009)
 DOI:10.1111/j.1399-0004.2009.01271.x
 PMID:20727427 (NIPBL)
 著者        Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J
 タイトル      Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
 雑誌        Eur J Med Genet 53:378-82 (2010)
 DOI:10.1016/j.ejmg.2010.08.002
 PMID:19842212 (SMC1A)
 著者        Mannini L, Liu J, Krantz ID, Musio A
 タイトル      Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
 雑誌        Hum Mutat 31:5-10 (2010)
 DOI:10.1002/humu.21129
 PMID:18996922 (SMC1A, SMC3)
 著者        Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A
 タイトル      Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
 雑誌        Hum Mol Genet 18:418-27 (2009)
 DOI:10.1093/hmg/ddn369
 PMID:22633399 (RAD21)
 著者        Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ
 タイトル      RAD21 mutations cause a human cohesinopathy.
 雑誌        Am J Hum Genet 90:1014-27 (2012)
 DOI:10.1016/j.ajhg.2012.04.019
 PMID:22885700 (HDAC8)
 著者        Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K
 タイトル      HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
 雑誌        Nature 489:313-7 (2012)
 DOI:10.1038/nature11316","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00631"">H00631</a>",Cornelia de Lange 症候群,"Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.",,"(CDLS1) NIPBL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25836"">25836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06672"">K06672</a>]
 (CDLS2) SMC1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8243"">8243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06636"">K06636</a>]
 (CDLS3) SMC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9126"">9126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06669"">K06669</a>]
 (CDLS4) RAD21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5885"">5885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06670"">K06670</a>]
 (CDLS5) HDAC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55869"">55869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11405"">K11405</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003635"">D003635</a>
 OMIM: <a href=""https://www.omim.org/entry/122470"">122470</a> <a href=""https://www.omim.org/entry/300590"">300590</a> <a href=""https://www.omim.org/entry/610759"">610759</a> <a href=""https://www.omim.org/entry/614701"">614701</a> <a href=""https://www.omim.org/entry/300882"">300882</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19793304"">19793304</a>
 著者        Liu J, Krantz ID
 タイトル      Cornelia de Lange syndrome, cohesin, and beyond.
 雑誌        Clin Genet 76:303-14 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01271.x"">10.1111/j.1399-0004.2009.01271.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20727427"">20727427</a> (NIPBL)
 著者        Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J
 タイトル      Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
 雑誌        Eur J Med Genet 53:378-82 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.08.002"">10.1016/j.ejmg.2010.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19842212"">19842212</a> (SMC1A)
 著者        Mannini L, Liu J, Krantz ID, Musio A
 タイトル      Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
 雑誌        Hum Mutat 31:5-10 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21129"">10.1002/humu.21129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18996922"">18996922</a> (SMC1A, <a href=""https://pubmed.ncbi.nlm.nih.gov/SMC3)"">SMC3)</a>
 著者        Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A
 タイトル      Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
 雑誌        Hum Mol Genet 18:418-27 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn369"">10.1093/hmg/ddn369</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22633399"">22633399</a> (RAD21)
 著者        Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ
 タイトル      RAD21 mutations cause a human cohesinopathy.
 雑誌        Am J Hum Genet 90:1014-27 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.04.019"">10.1016/j.ajhg.2012.04.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22885700"">22885700</a> (HDAC8)
 著者        Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K
 タイトル      HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
 雑誌        Nature 489:313-7 (2012)
 DOI:<a href=""https://doi.org/10.1038/nature11316"">10.1038/nature11316</a>"
H00632,"内臓錯位
 下位グループ    右側心房相同 (RAI)",,,"Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis.",先天奇形,,"(HTX1) ZIC3 [HSA:7547] [KO:K18487]
 (HTX2) CFC1 [HSA:55997] [KO:K25454]
 (HTX4) ACVR2B [HSA:93] [KO:K13596]
 (HTX5) NODAL [HSA:4838] [KO:K04666]
 (HTX6) CFAP53 [HSA:220136] [KO:K24225]
 (HTX7) MMP21 [HSA:118856] [KO:K08000]
 (HTX8) PKD1L1 [HSA:168507] [KO:K04987]
 (HTX9) MNS1 [HSA:55329] [KO:K25441]
 (HTX10) CFAP52 [HSA:146845] [KO:K24728]
 (HTX11) CFAP45 [HSA:25790] [KO:K25551]
 (HTX12) CIROP [HSA:100128908]
 (RAI) GDF1 [HSA:2657] [KO:K05495]",,,,,,"ICD-11: LA8Y
 ICD-10: Q89.3
 MeSH: D059446
 OMIM: 306955 605376 613751 270100 614779 616749 617205 618948 619607 619608 619702 208530","PMID:19876930
 著者        Sutherland MJ, Ware SM
 タイトル      Disorders of left-right asymmetry: heterotaxy and situs inversus.
 雑誌        Am J Med Genet C Semin Med Genet 151C:307-17 (2009)
 DOI:10.1002/ajmg.c.30228
 PMID:11471159
 著者        Casey B
 タイトル      Genetics of human situs abnormalities.
 雑誌        Am J Med Genet 101:356-8 (2001)
 DOI:10.1002/ajmg.1220
 PMID:9354794 (HTX1)
 著者        Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B
 タイトル      X-linked situs abnormalities result from mutations in ZIC3.
 雑誌        Nat Genet 17:305-8 (1997)
 DOI:10.1038/ng1197-305
 PMID:11062482 (HTX2)
 著者        Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B
 タイトル      Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
 雑誌        Nat Genet 26:365-9 (2000)
 DOI:10.1038/81695
 PMID:9916847 (HTX4)
 著者        Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B
 タイトル      Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
 雑誌        Am J Med Genet 82:70-6 (1999)
 DOI:10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y
 PMID:19064609 (HTX5)
 著者        Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM
 タイトル      Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
 雑誌        Hum Mol Genet 18:861-71 (2009)
 DOI:10.1093/hmg/ddn411
 PMID:22577226 (HTX6)
 著者        Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O
 タイトル      A human laterality disorder associated with recessive CCDC11 mutation.
 雑誌        J Med Genet 49:386-90 (2012)
 DOI:10.1136/jmedgenet-2011-100457
 PMID:20413652 (RAI)
 著者        Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R
 タイトル      Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
 雑誌        Hum Mol Genet 19:2747-53 (2010)
 DOI:10.1093/hmg/ddq164
 PMID:26429889 (HTX7)
 著者        Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N
 タイトル      A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
 雑誌        J Med Genet 52:840-7 (2015)
 DOI:10.1136/jmedgenet-2015-103336
 PMID:27616478 (HTX8)
 著者        Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y
 タイトル      Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
 雑誌        Am J Hum Genet 99:886-893 (2016)
 DOI:10.1016/j.ajhg.2016.07.011
 PMID:31534215 (HTX9)
 著者        Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL
 タイトル      MNS1 variant associated with situs inversus and male infertility.
 雑誌        Eur J Hum Genet 28:50-55 (2020)
 DOI:10.1038/s41431-019-0489-z
 PMID:33139725 (HTX11)
 著者        Dougherty GW, Mizuno K, Nothe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strunker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Grosse-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Hoben IM, Junger K, Gutzlaff J, Cindric S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H
 タイトル      CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
 雑誌        Nat Commun 11:5520 (2020)
 DOI:10.1038/s41467-020-19113-0
 PMID:34903892 (HTX12)
 著者        Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B
 タイトル      Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
 雑誌        Nat Genet 54:62-72 (2022)
 DOI:10.1038/s41588-021-00970-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00632"">H00632</a>","内臓錯位
 下位グループ    右側心房相同 (RAI)","Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis.",,"(HTX1) ZIC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7547"">7547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18487"">K18487</a>]
 (HTX2) CFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55997"">55997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25454"">K25454</a>]
 (HTX4) ACVR2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93"">93</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13596"">K13596</a>]
 (HTX5) NODAL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4838"">4838</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04666"">K04666</a>]
 (HTX6) CFAP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:220136"">220136</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24225"">K24225</a>]
 (HTX7) MMP21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:118856"">118856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08000"">K08000</a>]
 (HTX8) PKD1L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:168507"">168507</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04987"">K04987</a>]
 (HTX9) MNS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55329"">55329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25441"">K25441</a>]
 (HTX10) CFAP52 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146845"">146845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24728"">K24728</a>]
 (HTX11) CFAP45 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25790"">25790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25551"">K25551</a>]
 (HTX12) CIROP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100128908"">100128908</a>]
 (RAI) GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]",,,,,,"ICD-11: LA8Y
 ICD-10: Q89.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D059446"">D059446</a>
 OMIM: <a href=""https://www.omim.org/entry/306955"">306955</a> <a href=""https://www.omim.org/entry/605376"">605376</a> <a href=""https://www.omim.org/entry/613751"">613751</a> <a href=""https://www.omim.org/entry/270100"">270100</a> <a href=""https://www.omim.org/entry/614779"">614779</a> <a href=""https://www.omim.org/entry/616749"">616749</a> <a href=""https://www.omim.org/entry/617205"">617205</a> <a href=""https://www.omim.org/entry/618948"">618948</a> <a href=""https://www.omim.org/entry/619607"">619607</a> <a href=""https://www.omim.org/entry/619608"">619608</a> <a href=""https://www.omim.org/entry/619702"">619702</a> <a href=""https://www.omim.org/entry/208530"">208530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19876930"">19876930</a>
 著者        Sutherland MJ, Ware SM
 タイトル      Disorders of left-right asymmetry: heterotaxy and situs inversus.
 雑誌        Am J Med Genet C Semin Med Genet 151C:307-17 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30228"">10.1002/ajmg.c.30228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11471159"">11471159</a>
 著者        Casey B
 タイトル      Genetics of human situs abnormalities.
 雑誌        Am J Med Genet 101:356-8 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1220"">10.1002/ajmg.1220</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9354794"">9354794</a> (HTX1)
 著者        Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B
 タイトル      X-linked situs abnormalities result from mutations in ZIC3.
 雑誌        Nat Genet 17:305-8 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng1197-305"">10.1038/ng1197-305</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11062482"">11062482</a> (HTX2)
 著者        Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B
 タイトル      Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
 雑誌        Nat Genet 26:365-9 (2000)
 DOI:<a href=""https://doi.org/10.1038/81695"">10.1038/81695</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9916847"">9916847</a> (HTX4)
 著者        Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B
 タイトル      Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
 雑誌        Am J Med Genet 82:70-6 (1999)
 DOI:<a href=""https://doi.org/10.1002/(sici)1096-8628(19990101)82:"">10.1002/(sici)1096-8628(19990101)82:</a><a href=""https://doi.org/1<70:"">1<70:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/aid-ajmg14>3.0.co;2-y"">aid-ajmg14>3.0.co;2-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19064609"">19064609</a> (HTX5)
 著者        Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM
 タイトル      Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
 雑誌        Hum Mol Genet 18:861-71 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn411"">10.1093/hmg/ddn411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22577226"">22577226</a> (HTX6)
 著者        Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O
 タイトル      A human laterality disorder associated with recessive CCDC11 mutation.
 雑誌        J Med Genet 49:386-90 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100457"">10.1136/jmedgenet-2011-100457</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20413652"">20413652</a> (RAI)
 著者        Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R
 タイトル      Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
 雑誌        Hum Mol Genet 19:2747-53 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq164"">10.1093/hmg/ddq164</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26429889"">26429889</a> (HTX7)
 著者        Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N
 タイトル      A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
 雑誌        J Med Genet 52:840-7 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103336"">10.1136/jmedgenet-2015-103336</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616478"">27616478</a> (HTX8)
 著者        Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y
 タイトル      Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
 雑誌        Am J Hum Genet 99:886-893 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.011"">10.1016/j.ajhg.2016.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31534215"">31534215</a> (HTX9)
 著者        Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL
 タイトル      MNS1 variant associated with situs inversus and male infertility.
 雑誌        Eur J Hum Genet 28:50-55 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0489-z"">10.1038/s41431-019-0489-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33139725"">33139725</a> (HTX11)
 著者        Dougherty GW, Mizuno K, Nothe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strunker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Grosse-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Hoben IM, Junger K, Gutzlaff J, Cindric S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H
 タイトル      CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
 雑誌        Nat Commun 11:5520 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-19113-0"">10.1038/s41467-020-19113-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34903892"">34903892</a> (HTX12)
 著者        Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B
 タイトル      Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
 雑誌        Nat Genet 54:62-72 (2022)
 DOI:<a href=""https://doi.org/10.1038/s41588-021-00970-4"">10.1038/s41588-021-00970-4</a>"
H00633,デュアン眼球後退症候群,,,"Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS parients, absence of the abducens motor neurons and aberrant innervations of extraocular muscles by third cranial nerve have been reported.",神経系疾患,,"(DURS2) CHN1 [HSA:1123] [KO:K20630]
 (DURS3) MAFB [HSA:9935] [KO:K09036]",,,,,,"ICD-11: 9C82.2
 ICD-10: H50.8
 MeSH: D004370
 OMIM: 604356 617041","PMID:20801148
 著者        Yuksel D, Orban de Xivry JJ, Lefevre P
 タイトル      Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
 雑誌        Vision Res 50:2334-47 (2010)
 DOI:10.1016/j.visres.2010.08.019
 PMID:18653847 (CHN1)
 著者        Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC
 タイトル      Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
 雑誌        Science 321:839-43 (2008)
 DOI:10.1126/science.1156121
 PMID:27181683 (MAFB)
 著者        Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC
 タイトル      Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
 雑誌        Am J Hum Genet 98:1220-1227 (2016)
 DOI:10.1016/j.ajhg.2016.03.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00633"">H00633</a>",デュアン眼球後退症候群,"Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS parients, absence of the abducens motor neurons and aberrant innervations of extraocular muscles by third cranial nerve have been reported.",,"(DURS2) CHN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1123"">1123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20630"">K20630</a>]
 (DURS3) MAFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9935"">9935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09036"">K09036</a>]",,,,,,"ICD-11: 9C82.2
 ICD-10: H50.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004370"">D004370</a>
 OMIM: <a href=""https://www.omim.org/entry/604356"">604356</a> <a href=""https://www.omim.org/entry/617041"">617041</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20801148"">20801148</a>
 著者        Yuksel D, Orban de Xivry JJ, Lefevre P
 タイトル      Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
 雑誌        Vision Res 50:2334-47 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.visres.2010.08.019"">10.1016/j.visres.2010.08.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18653847"">18653847</a> (CHN1)
 著者        Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC
 タイトル      Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
 雑誌        Science 321:839-43 (2008)
 DOI:<a href=""https://doi.org/10.1126/science.1156121"">10.1126/science.1156121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27181683"">27181683</a> (MAFB)
 著者        Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC
 タイトル      Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
 雑誌        Am J Hum Genet 98:1220-1227 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.023"">10.1016/j.ajhg.2016.03.023</a>"
H00634,"オキヒロ症候群;
 Duane-radial ray 症候群",,,Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.,先天奇形,,SALL4 [HSA:57167] [KO:K19871],,,,,"For Duane retraction syndrome, see H00633.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: D004370
 OMIM: 607323","PMID:20801148
 著者        Yuksel D, Orban de Xivry JJ, Lefevre P
 タイトル      Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
 雑誌        Vision Res 50:2334-47 (2010)
 DOI:10.1016/j.visres.2010.08.019
 PMID:12395297
 著者        Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC
 タイトル      Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
 雑誌        Am J Hum Genet 71:1195-9 (2002)
 DOI:10.1086/343821","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00634"">H00634</a>","オキヒロ症候群;
 Duane-radial ray 症候群",Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.,,"SALL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57167"">57167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19871"">K19871</a>]",,,,,"For Duane retraction syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00633."">H00633.</a>","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004370"">D004370</a>
 OMIM: <a href=""https://www.omim.org/entry/607323"">607323</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20801148"">20801148</a>
 著者        Yuksel D, Orban de Xivry JJ, Lefevre P
 タイトル      Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
 雑誌        Vision Res 50:2334-47 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.visres.2010.08.019"">10.1016/j.visres.2010.08.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12395297"">12395297</a>
 著者        Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC
 タイトル      Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
 雑誌        Am J Hum Genet 71:1195-9 (2002)
 DOI:<a href=""https://doi.org/10.1086/343821"">10.1086/343821</a>"
H00635,"無虹彩症
 上位グループ    遺伝性前眼部形成異常 [DS:H01159]",,,"Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.",先天奇形,,"(AN1) PAX6 [HSA:5080] [KO:K08031]
 (AN2) ELP4 [HSA:26610] [KO:K11375]
 (AN3) TRIM44 [HSA:54765] [KO:K12020]",,,,,,"ICD-11: LA11.3
 ICD-10: Q13.1
 MeSH: D015783
 OMIM: 106210 617141 617142","PMID:20132240
 著者        Kokotas H, Petersen MB
 タイトル      Clinical and molecular aspects of aniridia.
 雑誌        Clin Genet 77:409-20 (2010)
 DOI:10.1111/j.1399-0004.2010.01372.x
 PMID:12386836 (PAX6)
 著者        Crolla JA, van Heyningen V
 タイトル      Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
 雑誌        Am J Hum Genet 71:1138-49 (2002)
 DOI:10.1086/344396
 PMID:24290376 (ELP4)
 著者        Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA
 タイトル      Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
 雑誌        Am J Hum Genet 93:1126-34 (2013)
 DOI:10.1016/j.ajhg.2013.10.028
 PMID:26394807 (TRIM44)
 著者        Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L
 タイトル      Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
 雑誌        Hum Mutat 36:1164-7 (2015)
 DOI:10.1002/humu.22907","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00635"">H00635</a>","無虹彩症
 上位グループ    遺伝性前眼部形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01159"">H01159</a>]","Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.",,"(AN1) PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]
 (AN2) ELP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26610"">26610</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11375"">K11375</a>]
 (AN3) TRIM44 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54765"">54765</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12020"">K12020</a>]",,,,,,"ICD-11: LA11.3
 ICD-10: Q13.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015783"">D015783</a>
 OMIM: <a href=""https://www.omim.org/entry/106210"">106210</a> <a href=""https://www.omim.org/entry/617141"">617141</a> <a href=""https://www.omim.org/entry/617142"">617142</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20132240"">20132240</a>
 著者        Kokotas H, Petersen MB
 タイトル      Clinical and molecular aspects of aniridia.
 雑誌        Clin Genet 77:409-20 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01372.x"">10.1111/j.1399-0004.2010.01372.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12386836"">12386836</a> (PAX6)
 著者        Crolla JA, van Heyningen V
 タイトル      Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
 雑誌        Am J Hum Genet 71:1138-49 (2002)
 DOI:<a href=""https://doi.org/10.1086/344396"">10.1086/344396</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24290376"">24290376</a> (ELP4)
 著者        Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA
 タイトル      Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
 雑誌        Am J Hum Genet 93:1126-34 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.028"">10.1016/j.ajhg.2013.10.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26394807"">26394807</a> (TRIM44)
 著者        Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L
 タイトル      Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
 雑誌        Hum Mutat 36:1164-7 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22907"">10.1002/humu.22907</a>"
H00636,無四肢症候群,,,"Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia.",先天奇形,,"(TETAMS1) WNT3 [HSA:7473] [KO:K00312]
 (TETAMS2) RSPO2 [HSA:340419] [KO:K23097]",,,,,,"ICD-11: LB9B
 ICD-10: Q73.0
 MeSH: C536498
 OMIM: 273395 618021","PMID:20301453
 著者        Niemann S
 タイトル      Tetra-Amelia Syndrome
 雑誌        GeneReviews (1993)
 PMID:14872406
 著者        Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U
 タイトル      Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.
 雑誌        Am J Hum Genet 74:558-63 (2004)
 DOI:10.1086/382196
 PMID:20709709
 著者        Al-Qattan MM
 タイトル      WNT pathways and upper limb anomalies.
 雑誌        J Hand Surg Eur Vol 36:9-22 (2011)
 DOI:10.1177/1753193410380502
 PMID:29769720
 著者        Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefevre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Basaran S, Yucel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B
 タイトル      RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
 雑誌        Nature 557:564-569 (2018)
 DOI:10.1038/s41586-018-0118-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00636"">H00636</a>",無四肢症候群,"Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia.",,"(TETAMS1) WNT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7473"">7473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00312"">K00312</a>]
 (TETAMS2) RSPO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340419"">340419</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23097"">K23097</a>]",,,,,,"ICD-11: LB9B
 ICD-10: Q73.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536498"">C536498</a>
 OMIM: <a href=""https://www.omim.org/entry/273395"">273395</a> <a href=""https://www.omim.org/entry/618021"">618021</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301453"">20301453</a>
 著者        Niemann S
 タイトル      Tetra-Amelia Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14872406"">14872406</a>
 著者        Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U
 タイトル      Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.
 雑誌        Am J Hum Genet 74:558-63 (2004)
 DOI:<a href=""https://doi.org/10.1086/382196"">10.1086/382196</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20709709"">20709709</a>
 著者        Al-Qattan MM
 タイトル      WNT pathways and upper limb anomalies.
 雑誌        J Hand Surg Eur Vol 36:9-22 (2011)
 DOI:<a href=""https://doi.org/10.1177/1753193410380502"">10.1177/1753193410380502</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29769720"">29769720</a>
 著者        Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefevre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Basaran S, Yucel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B
 タイトル      RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
 雑誌        Nature 557:564-569 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41586-018-0118-y"">10.1038/s41586-018-0118-y</a>"
H00637,Schinzel 症候群,,,"Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.",先天奇形,,TBX3 [HSA:6926] [KO:K10177],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q71.8
 MeSH: C536937
 OMIM: 181450","PMID:19938096
 著者        Linden H, Williams R, King J, Blair E, Kini U
 タイトル      Ulnar Mammary syndrome and TBX3: expanding the phenotype.
 雑誌        Am J Med Genet A 149A:2809-12 (2009)
 DOI:10.1002/ajmg.a.33096
 PMID:21199695
 著者        Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J
 タイトル      The face of Ulnar Mammary syndrome?
 雑誌        Eur J Med Genet 54:301-5 (2011)
 DOI:10.1016/j.ejmg.2010.12.010
 PMID:16896345
 著者        Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R
 タイトル      Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
 雑誌        Eur J Hum Genet 14:1274-9 (2006)
 DOI:10.1038/sj.ejhg.5201696
 PMID:9207801
 著者        Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB
 タイトル      Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
 雑誌        Nat Genet 16:311-5 (1997)
 DOI:10.1038/ng0797-311","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00637"">H00637</a>",Schinzel 症候群,"Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.",,"TBX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6926"">6926</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10177"">K10177</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536937"">C536937</a>
 OMIM: <a href=""https://www.omim.org/entry/181450"">181450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19938096"">19938096</a>
 著者        Linden H, Williams R, King J, Blair E, Kini U
 タイトル      Ulnar Mammary syndrome and TBX3: expanding the phenotype.
 雑誌        Am J Med Genet A 149A:2809-12 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33096"">10.1002/ajmg.a.33096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21199695"">21199695</a>
 著者        Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J
 タイトル      The face of Ulnar Mammary syndrome?
 雑誌        Eur J Med Genet 54:301-5 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.12.010"">10.1016/j.ejmg.2010.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16896345"">16896345</a>
 著者        Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R
 タイトル      Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
 雑誌        Eur J Hum Genet 14:1274-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201696"">10.1038/sj.ejhg.5201696</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9207801"">9207801</a>
 著者        Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB
 タイトル      Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
 雑誌        Nat Genet 16:311-5 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0797-311"">10.1038/ng0797-311</a>"
H00638,EEC 症候群,,,"Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract.",先天奇形,,TP63 [HSA:8626] [KO:K10149],,,,,Isolated ectrodactyly is described in split-hand/foot malformation (H00471).,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C565062 C565799
 OMIM: 604292","PMID:20944926
 著者        Trope BM, Salomao JN, Costa VD, Verde RB, Barros DS
 タイトル      Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome.
 雑誌        An Bras Dermatol 85:573-5 (2010)
 DOI:10.1590/S0365-05962010000400027
 PMID:1261073
 著者        Rosenmann A, Shapira T, Cohen MM
 タイトル      Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.
 雑誌        Clin Genet 9:347-53 (1976)
 DOI:10.1111/j.1399-0004.1976.tb01585.x
 PMID:10535733
 著者        Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H
 タイトル      Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
 雑誌        Cell 99:143-53 (1999)
 DOI:10.1016/S0092-8674(00)81646-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00638"">H00638</a>",EEC 症候群,"Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract.",,"TP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]",,,,,Isolated ectrodactyly is described in split-hand/foot malformation (H00471).,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565062"">C565062</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565799"">C565799</a>
 OMIM: <a href=""https://www.omim.org/entry/604292"">604292</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20944926"">20944926</a>
 著者        Trope BM, Salomao JN, Costa VD, Verde RB, Barros DS
 タイトル      Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome.
 雑誌        An Bras Dermatol 85:573-5 (2010)
 DOI:<a href=""https://doi.org/10.1590/S0365-05962010000400027"">10.1590/S0365-05962010000400027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1261073"">1261073</a>
 著者        Rosenmann A, Shapira T, Cohen MM
 タイトル      Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.
 雑誌        Clin Genet 9:347-53 (1976)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1976.tb01585.x"">10.1111/j.1399-0004.1976.tb01585.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10535733"">10535733</a>
 著者        Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H
 タイトル      Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
 雑誌        Cell 99:143-53 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(00)81646-3"">10.1016/S0092-8674(00)81646-3</a>"
H00639,EEM 症候群,,,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows, and eyelashes. Digit deficiency/syndactyly in hands is often more severe than the feet. Bilateral retinal degeneration appears as prominent pigmentation of the retina.",先天奇形,,CDH3 [HSA:1001] [KO:K06796],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C536190
 OMIM: 225280","PMID:11424132
 著者        Senecky Y, Halpern GJ, Inbar D, Attias J, Shohat M
 タイトル      Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.
 雑誌        Am J Med Genet 101:195-7 (2001)
 DOI:10.1002/ajmg.1361
 PMID:15805154
 著者        Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T
 タイトル      Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
 雑誌        J Med Genet 42:292-8 (2005)
 DOI:10.1136/jmg.2004.027821
 PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00639"">H00639</a>",EEM 症候群,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows, and eyelashes. Digit deficiency/syndactyly in hands is often more severe than the feet. Bilateral retinal degeneration appears as prominent pigmentation of the retina.",,"CDH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1001"">1001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06796"">K06796</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536190"">C536190</a>
 OMIM: <a href=""https://www.omim.org/entry/225280"">225280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11424132"">11424132</a>
 著者        Senecky Y, Halpern GJ, Inbar D, Attias J, Shohat M
 タイトル      Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.
 雑誌        Am J Med Genet 101:195-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1361"">10.1002/ajmg.1361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15805154"">15805154</a>
 著者        Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T
 タイトル      Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
 雑誌        J Med Genet 42:292-8 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.027821"">10.1136/jmg.2004.027821</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>"
H00640,Limb-mammary 症候群,,,"Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.",先天奇形,,TP63 [HSA:8626] [KO:K10149],,,,,"For EEC syndrome, see H00638.","ICD-11: LD27.0Y
 ICD-10: Q87.2
 MeSH: C535903
 OMIM: 603543","PMID:12070241
 著者        Brunner HG, Hamel BC, Van Bokhoven H
 タイトル      The p63 gene in EEC and other syndromes.
 雑誌        J Med Genet 39:377-81 (2002)
 DOI:10.1136/jmg.39.6.377
 PMID:12357472
 著者        Brunner HG, Hamel BC, Bokhoven Hv H
 タイトル      P63 gene mutations and human developmental syndromes.
 雑誌        Am J Med Genet 112:284-90 (2002)
 DOI:10.1002/ajmg.10778
 PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00640"">H00640</a>",Limb-mammary 症候群,"Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.",,"TP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]",,,,,"For EEC syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00638."">H00638.</a>","ICD-11: LD27.0Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535903"">C535903</a>
 OMIM: <a href=""https://www.omim.org/entry/603543"">603543</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12070241"">12070241</a>
 著者        Brunner HG, Hamel BC, Van Bokhoven H
 タイトル      The p63 gene in EEC and other syndromes.
 雑誌        J Med Genet 39:377-81 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.6.377"">10.1136/jmg.39.6.377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12357472"">12357472</a>
 著者        Brunner HG, Hamel BC, Bokhoven Hv H
 タイトル      P63 gene mutations and human developmental syndromes.
 雑誌        Am J Med Genet 112:284-90 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10778"">10.1002/ajmg.10778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>"
H00641,ADULT 症候群,,,"ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting.",先天奇形,,TP63 (gain of function) [HSA:8626] [KO:K10149],,,,,"For EEC syndrome and EEC-related limb-mammary syndrome, see H00638 and H00640 respectively.","ICD-11: LD27.0Y
 ICD-10: Q87.2
 MeSH: C538052
 OMIM: 103285","PMID:12070241
 著者        Brunner HG, Hamel BC, Van Bokhoven H
 タイトル      The p63 gene in EEC and other syndromes.
 雑誌        J Med Genet 39:377-81 (2002)
 DOI:10.1136/jmg.39.6.377
 PMID:12357472
 著者        Brunner HG, Hamel BC, Bokhoven Hv H
 タイトル      P63 gene mutations and human developmental syndromes.
 雑誌        Am J Med Genet 112:284-90 (2002)
 DOI:10.1002/ajmg.10778
 PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804
 PMID:11528512
 著者        Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T
 タイトル      TP63 gene mutation in ADULT syndrome.
 雑誌        Eur J Hum Genet 9:642-5 (2001)
 DOI:10.1038/sj.ejhg.5200676","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00641"">H00641</a>",ADULT 症候群,"ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting.",,"TP63 (gain of function) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]",,,,,"For EEC syndrome and EEC-related limb-mammary syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00638"">H00638</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00640"">H00640</a> respectively.","ICD-11: LD27.0Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538052"">C538052</a>
 OMIM: <a href=""https://www.omim.org/entry/103285"">103285</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12070241"">12070241</a>
 著者        Brunner HG, Hamel BC, Van Bokhoven H
 タイトル      The p63 gene in EEC and other syndromes.
 雑誌        J Med Genet 39:377-81 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.6.377"">10.1136/jmg.39.6.377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12357472"">12357472</a>
 著者        Brunner HG, Hamel BC, Bokhoven Hv H
 タイトル      P63 gene mutations and human developmental syndromes.
 雑誌        Am J Med Genet 112:284-90 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10778"">10.1002/ajmg.10778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11528512"">11528512</a>
 著者        Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T
 タイトル      TP63 gene mutation in ADULT syndrome.
 雑誌        Eur J Hum Genet 9:642-5 (2001)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200676"">10.1038/sj.ejhg.5200676</a>"
H00642,"LADD 症候群;
 レビーホリスター症候群",,,"Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.",先天奇形,,"FGF10 [HSA:2255] [KO:K04358]
 FGFR2 [HSA:2263] [KO:K05093]
 FGFR3 [HSA:2261] [KO:K05094]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C538132
 OMIM: 149730","PMID:8411061
 著者        Lacombe D, Serville F, Marchand D, Battin J
 タイトル      Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
 雑誌        J Med Genet 30:700-3 (1993)
 DOI:10.1136/jmg.30.8.700
 PMID:16501574 (FGF10, FGFR2, FGFR3)
 著者        Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
 タイトル      Mutations in different components of FGF signaling in LADD syndrome.
 雑誌        Nat Genet 38:414-7 (2006)
 DOI:10.1038/ng1757
 PMID:17682060 (FGF10, FGFR2)
 著者        Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
 タイトル      Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.
 雑誌        Mol Cell Biol 27:6903-12 (2007)
 DOI:10.1128/MCB.00544-07","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00642"">H00642</a>","LADD 症候群;
 レビーホリスター症候群","Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.",,"FGF10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2255"">2255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]
 FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538132"">C538132</a>
 OMIM: <a href=""https://www.omim.org/entry/149730"">149730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8411061"">8411061</a>
 著者        Lacombe D, Serville F, Marchand D, Battin J
 タイトル      Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
 雑誌        J Med Genet 30:700-3 (1993)
 DOI:<a href=""https://doi.org/10.1136/jmg.30.8.700"">10.1136/jmg.30.8.700</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16501574"">16501574</a> (FGF10, <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2,"">FGFR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR3)"">FGFR3)</a>
 著者        Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
 タイトル      Mutations in different components of FGF signaling in LADD syndrome.
 雑誌        Nat Genet 38:414-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1757"">10.1038/ng1757</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17682060"">17682060</a> (FGF10, <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2)"">FGFR2)</a>
 著者        Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
 タイトル      Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.
 雑誌        Mol Cell Biol 27:6903-12 (2007)
 DOI:<a href=""https://doi.org/10.1128/MCB.00544-07"">10.1128/MCB.00544-07</a>"
H00643,"歯爪症候群
 上位グループ    外胚葉形成異常 [DS:H02456]",,,"Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped and easily broken. Mutations are identified in MSX1 gene.",先天奇形,,MSX1 [HSA:4487] [KO:K09341],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C536736
 OMIM: 189500","PMID:11369996
 著者        Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR
 タイトル      A nonsense mutation in MSX1 causes Witkop syndrome.
 雑誌        Am J Hum Genet 69:67-74 (2001)
 DOI:10.1086/321271
 PMID:21054511
 著者        Memarpour M, Shafiei F
 タイトル      Witkop tooth and nail syndrome: a report of three cases in a family.
 雑誌        Pediatr Dermatol 28:281-5 (2011)
 DOI:10.1111/j.1525-1470.2010.01198.x
 PMID:16129001
 著者        Devadas S, Varma B, Mungara J, Joseph T, Saraswathi TR
 タイトル      Witkop tooth and nail syndrome: a case report.
 雑誌        Int J Paediatr Dent 15:364-9 (2005)
 DOI:10.1111/j.1365-263X.2005.00647.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00643"">H00643</a>","歯爪症候群
 上位グループ    外胚葉形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02456"">H02456</a>]","Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped and easily broken. Mutations are identified in MSX1 gene.",,"MSX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4487"">4487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09341"">K09341</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536736"">C536736</a>
 OMIM: <a href=""https://www.omim.org/entry/189500"">189500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11369996"">11369996</a>
 著者        Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR
 タイトル      A nonsense mutation in MSX1 causes Witkop syndrome.
 雑誌        Am J Hum Genet 69:67-74 (2001)
 DOI:<a href=""https://doi.org/10.1086/321271"">10.1086/321271</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21054511"">21054511</a>
 著者        Memarpour M, Shafiei F
 タイトル      Witkop tooth and nail syndrome: a report of three cases in a family.
 雑誌        Pediatr Dermatol 28:281-5 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2010.01198.x"">10.1111/j.1525-1470.2010.01198.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16129001"">16129001</a>
 著者        Devadas S, Varma B, Mungara J, Joseph T, Saraswathi TR
 タイトル      Witkop tooth and nail syndrome: a case report.
 雑誌        Int J Paediatr Dent 15:364-9 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-263X.2005.00647.x"">10.1111/j.1365-263X.2005.00647.x</a>"
H00644,外胚葉異形成・皮膚脆弱症候群,,,"Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein.",先天奇形,,PKP1 [HSA:5317] [KO:K10387],,,,,,"ICD-11: EC30
 ICD-10: Q81.0
 MeSH: C536183
 OMIM: 604536","PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804
 PMID:9326952
 著者        McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA
 タイトル      Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
 雑誌        Nat Genet 17:240-4 (1997)
 DOI:10.1038/ng1097-240
 PMID:16781314
 著者        Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA
 タイトル      Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
 雑誌        J Am Acad Dermatol 55:157-61 (2006)
 DOI:10.1016/j.jaad.2005.10.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00644"">H00644</a>",外胚葉異形成・皮膚脆弱症候群,"Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein.",,"PKP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5317"">5317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10387"">K10387</a>]",,,,,,"ICD-11: EC30
 ICD-10: Q81.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536183"">C536183</a>
 OMIM: <a href=""https://www.omim.org/entry/604536"">604536</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9326952"">9326952</a>
 著者        McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA
 タイトル      Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
 雑誌        Nat Genet 17:240-4 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng1097-240"">10.1038/ng1097-240</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16781314"">16781314</a>
 著者        Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA
 タイトル      Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
 雑誌        J Am Acad Dermatol 55:157-61 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2005.10.002"">10.1016/j.jaad.2005.10.002</a>"
H00645,色素失調症,,,"Incontinentia pigmenti is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.",先天奇形,,IKBKG [HSA:8517] [KO:K07210],,,,,,"ICD-11: LD27.00
 ICD-10: Q82.3
 MeSH: D007184
 OMIM: 308300","PMID:21163160
 著者        Jabbari A, Ralston J, Schaffer JV
 タイトル      Incontinentia pigmenti.
 雑誌        Dermatol Online J 16:9 (2010)
 PMID:12140463
 著者        Berlin AL, Paller AS, Chan LS
 タイトル      Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.
 雑誌        J Am Acad Dermatol 47:169-87; quiz 188-90 (2002)
 DOI:10.1067/mjd.2002.125949
 PMID:15295921
 著者        Bruckner AL
 タイトル      Incontinentia pigmenti: a window to the role of NF-kappaB function.
 雑誌        Semin Cutan Med Surg 23:116-24 (2004)
 DOI:10.1016/j.sder.2004.01.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00645"">H00645</a>",色素失調症,"Incontinentia pigmenti is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular, verrucous, hyperpigmented, and atrophic. Other tissues of ectodermal origin are also affected, showing hair abnormalities, dental anomalies, and ophthalmologic and neurologic alterations. Familial incontinentia pigmenti is caused by mutations in the NEMO gene.",,"IKBKG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8517"">8517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07210"">K07210</a>]",,,,,,"ICD-11: LD27.00
 ICD-10: Q82.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007184"">D007184</a>
 OMIM: <a href=""https://www.omim.org/entry/308300"">308300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21163160"">21163160</a>
 著者        Jabbari A, Ralston J, Schaffer JV
 タイトル      Incontinentia pigmenti.
 雑誌        Dermatol Online J 16:9 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12140463"">12140463</a>
 著者        Berlin AL, Paller AS, Chan LS
 タイトル      Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.
 雑誌        J Am Acad Dermatol 47:169-87; quiz 188-90 (2002)
 DOI:<a href=""https://doi.org/10.1067/mjd.2002.125949"">10.1067/mjd.2002.125949</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15295921"">15295921</a>
 著者        Bruckner AL
 タイトル      Incontinentia pigmenti: a window to the role of NF-kappaB function.
 雑誌        Semin Cutan Med Surg 23:116-24 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.sder.2004.01.005"">10.1016/j.sder.2004.01.005</a>"
H00646,歯・爪・皮膚形成異常,,,"Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles.",先天奇形,,WNT10A [HSA:80326] [KO:K01357],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C537742
 OMIM: 257980","PMID:6837628
 著者        Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM
 タイトル      Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.
 雑誌        Am J Med Genet 14:335-46 (1983)
 DOI:10.1002/ajmg.1320140213
 PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804
 PMID:17870445
 著者        Adams BB
 タイトル      Odonto-onycho-dermal dysplasia syndrome.
 雑誌        J Am Acad Dermatol 57:732-3 (2007)
 DOI:10.1016/j.jaad.2007.04.015
 PMID:17847007
 著者        Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
 タイトル      Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
 雑誌        Am J Hum Genet 81:821-8 (2007)
 DOI:10.1086/520064","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00646"">H00646</a>",歯・爪・皮膚形成異常,"Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles.",,"WNT10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80326"">80326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01357"">K01357</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537742"">C537742</a>
 OMIM: <a href=""https://www.omim.org/entry/257980"">257980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6837628"">6837628</a>
 著者        Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM
 タイトル      Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.
 雑誌        Am J Med Genet 14:335-46 (1983)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320140213"">10.1002/ajmg.1320140213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17870445"">17870445</a>
 著者        Adams BB
 タイトル      Odonto-onycho-dermal dysplasia syndrome.
 雑誌        J Am Acad Dermatol 57:732-3 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2007.04.015"">10.1016/j.jaad.2007.04.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17847007"">17847007</a>
 著者        Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
 タイトル      Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
 雑誌        Am J Hum Genet 81:821-8 (2007)
 DOI:<a href=""https://doi.org/10.1086/520064"">10.1086/520064</a>"
H00647,外胚葉異形成‐合指症症候群,,,"Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions.",先天奇形,,PVRL4 [HSA:81607] [KO:K06593],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 OMIM: 613573","PMID:21346770
 著者        Jelani M, Chishti MS, Ahmad W
 タイトル      Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
 雑誌        J Hum Genet 56:352-7 (2011)
 DOI:10.1038/jhg.2011.18
 PMID:20691405
 著者        Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B
 タイトル      Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
 雑誌        Am J Hum Genet 87:265-73 (2010)
 DOI:10.1016/j.ajhg.2010.07.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00647"">H00647</a>",外胚葉異形成‐合指症症候群,"Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions.",,"PVRL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81607"">81607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06593"">K06593</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/613573"">613573</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21346770"">21346770</a>
 著者        Jelani M, Chishti MS, Ahmad W
 タイトル      Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
 雑誌        J Hum Genet 56:352-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/jhg.2011.18"">10.1038/jhg.2011.18</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20691405"">20691405</a>
 著者        Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B
 タイトル      Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
 雑誌        Am J Hum Genet 87:265-73 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.07.003"">10.1016/j.ajhg.2010.07.003</a>"
H00648,"外胚葉形成異常 Clouston 型;
 Clouston 症候群
 上位グループ    外胚葉形成異常 [DS:H02456]",,,"Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels.",先天奇形,,GJB6 [HSA:10804] [KO:K07625],,,,,,"ICD-11: LD27.03
 ICD-10: Q82.8
 MeSH: D004476
 OMIM: 129500","PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804
 PMID:11546825
 著者        Priolo M, Lagana C
 タイトル      Ectodermal dysplasias: a new clinical-genetic classification.
 雑誌        J Med Genet 38:579-85 (2001)
 DOI:10.1136/jmg.38.9.579
 PMID:8741874
 著者        Hassed SJ, Kincannon JM, Arnold GL
 タイトル      Clouston syndrome: an ectodermal dysplasia without significant dental findings.
 雑誌        Am J Med Genet 61:274-6 (1996)
 DOI:10.1002/(SICI)1096-8628(19960122)61:3<274::AID-AJMG13>3.0.CO;2-Q
 PMID:20301379
 著者        Der Kaloustian VM
 タイトル      Hidrotic Ectodermal Dysplasia 2
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00648"">H00648</a>","外胚葉形成異常 Clouston 型;
 Clouston 症候群
 上位グループ    外胚葉形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02456"">H02456</a>]","Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels.",,"GJB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10804"">10804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07625"">K07625</a>]",,,,,,"ICD-11: LD27.03
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004476"">D004476</a>
 OMIM: <a href=""https://www.omim.org/entry/129500"">129500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11546825"">11546825</a>
 著者        Priolo M, Lagana C
 タイトル      Ectodermal dysplasias: a new clinical-genetic classification.
 雑誌        J Med Genet 38:579-85 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.9.579"">10.1136/jmg.38.9.579</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8741874"">8741874</a>
 著者        Hassed SJ, Kincannon JM, Arnold GL
 タイトル      Clouston syndrome: an ectodermal dysplasia without significant dental findings.
 雑誌        Am J Med Genet 61:274-6 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19960122)61:"">10.1002/(SICI)1096-8628(19960122)61:</a><a href=""https://doi.org/3<274:"">3<274:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG13>3.0.CO;2-Q"">AID-AJMG13>3.0.CO;2-Q</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301379"">20301379</a>
 著者        Der Kaloustian VM
 タイトル      Hidrotic Ectodermal Dysplasia 2
 雑誌        GeneReviews (1993)"
H00649,"外胚葉性形成異常 毛髪・爪型
 下位グループ    外胚葉性形成異常 毛髪・歯型 (ECTD13)
 上位グループ    外胚葉形成異常 [DS:H02456]",,,"Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.",先天奇形,,"(ECTD4) KRT85 [HSA:3891] [KO:K07605]
 (ECTD7) KRT74 [HSA:121391] [KO:K07605]
 (ECTD9) HOXC13 [HSA:3229] [KO:K09298]
 (ECTD13) KREMEN1 [HSA:83999] [KO:K23091]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C566592
 OMIM: 602032 614929 614931 617392","PMID:21890491
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:10.1093/hmg/ddr379
 PMID:9295083
 著者        Barbareschi M, Cambiaghi S, Crupi AC, Tadini G
 タイトル      Family with ""pure"" hair-nail ectodermal dysplasia.
 雑誌        Am J Med Genet 72:91-3 (1997)
 DOI:10.1002/(SICI)1096-8628(19971003)72:1<91::AID-AJMG19>3.0.CO;2-P
 PMID:16525032
 著者        Naeem M, Wajid M, Lee K, Leal SM, Ahmad W
 タイトル      A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
 雑誌        J Med Genet 43:274-9 (2006)
 DOI:10.1136/jmg.2005.033381
 PMID:24714551
 著者        Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
 タイトル      Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
 雑誌        PLoS One 9:e93607 (2014)
 DOI:10.1371/journal.pone.0093607
 PMID:27049303
 著者        Issa YA, Kamal L, Rayyan AA, Dweik D, Pierce S, Lee MK, King MC, Walsh T, Kanaan M
 タイトル      Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.
 雑誌        Eur J Hum Genet 24:1430-5 (2016)
 DOI:10.1038/ejhg.2016.29","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00649"">H00649</a>","外胚葉性形成異常 毛髪・爪型
 下位グループ    外胚葉性形成異常 毛髪・歯型 (ECTD13)
 上位グループ    外胚葉形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02456"">H02456</a>]","Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.",,"(ECTD4) KRT85 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3891"">3891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (ECTD7) KRT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121391"">121391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (ECTD9) HOXC13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3229"">3229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (ECTD13) KREMEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83999"">83999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23091"">K23091</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566592"">C566592</a>
 OMIM: <a href=""https://www.omim.org/entry/602032"">602032</a> <a href=""https://www.omim.org/entry/614929"">614929</a> <a href=""https://www.omim.org/entry/614931"">614931</a> <a href=""https://www.omim.org/entry/617392"">617392</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21890491"">21890491</a>
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr379"">10.1093/hmg/ddr379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9295083"">9295083</a>
 著者        Barbareschi M, Cambiaghi S, Crupi AC, Tadini G
 タイトル      Family with ""pure"" hair-nail ectodermal dysplasia.
 雑誌        Am J Med Genet 72:91-3 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19971003)72:"">10.1002/(SICI)1096-8628(19971003)72:</a><a href=""https://doi.org/1<91:"">1<91:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG19>3.0.CO;2-P"">AID-AJMG19>3.0.CO;2-P</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16525032"">16525032</a>
 著者        Naeem M, Wajid M, Lee K, Leal SM, Ahmad W
 タイトル      A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
 雑誌        J Med Genet 43:274-9 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.033381"">10.1136/jmg.2005.033381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24714551"">24714551</a>
 著者        Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
 タイトル      Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
 雑誌        PLoS One 9:e93607 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0093607"">10.1371/journal.pone.0093607</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27049303"">27049303</a>
 著者        Issa YA, Kamal L, Rayyan AA, Dweik D, Pierce S, Lee MK, King MC, Walsh T, Kanaan M
 タイトル      Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.
 雑誌        Eur J Hum Genet 24:1430-5 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.29"">10.1038/ejhg.2016.29</a>"
H00650,Allan-Herndon-Dudley 症候群,,,"Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3.",内分泌代謝疾患,nt06322  TRH-TSH-TH signaling,SLC16A2 [HSA:6567] [KO:K08231],,,,,,"ICD-11: 5A00.0Y
 ICD-10: E03.8
 MeSH: C537047
 OMIM: 300523","PMID:20713192
 著者        Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G
 タイトル      Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.
 雑誌        Eur J Med Genet 53:392-5 (2010)
 DOI:10.1016/j.ejmg.2010.08.001
 PMID:17574010
 著者        Schwartz CE, Stevenson RE
 タイトル      The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
 雑誌        Best Pract Res Clin Endocrinol Metab 21:307-21 (2007)
 DOI:10.1016/j.beem.2007.03.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00650"">H00650</a>",Allan-Herndon-Dudley 症候群,"Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3.","<a href=""https://www.kegg.jp/network/nt06322"">nt06322</a>  TRH-TSH-TH signaling","SLC16A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6567"">6567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08231"">K08231</a>]",,,,,,"ICD-11: 5A00.0Y
 ICD-10: E03.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537047"">C537047</a>
 OMIM: <a href=""https://www.omim.org/entry/300523"">300523</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20713192"">20713192</a>
 著者        Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G
 タイトル      Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.
 雑誌        Eur J Med Genet 53:392-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.08.001"">10.1016/j.ejmg.2010.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17574010"">17574010</a>
 著者        Schwartz CE, Stevenson RE
 タイトル      The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
 雑誌        Best Pract Res Clin Endocrinol Metab 21:307-21 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2007.03.009"">10.1016/j.beem.2007.03.009</a>"
H00651,"発汗低下を伴う先天性外胚葉形成異常症
 下位グループ    無汗性先天性外胚葉形成異常症
 上位グループ    外胚葉形成異常 [DS:H02456]",,,"Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.",先天奇形,,"(ECTD1) ED1 [HSA:1896] [KO:K05480]
 (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
 (ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324]
 (ECTD12) KDF1 [HSA:126695] [KO:K23346]",,,,,,"ICD-11: LD27.0
 ICD-10: Q82.4
 MeSH: D053358 D053359 D053360
 OMIM: 305100 129490 224900 614940 614941 617337","PMID:19504607
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:10.1002/ajmg.a.32804
 PMID:12823289
 著者        Lamartine J
 タイトル      Towards a new classification of ectodermal dysplasias.
 雑誌        Clin Exp Dermatol 28:351-5 (2003)
 DOI:10.1046/j.1365-2230.2003.01319.x
 PMID:27838789
 著者        Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS
 タイトル      KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
 雑誌        Hum Genet 136:99-105 (2017)
 DOI:10.1007/s00439-016-1741-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00651"">H00651</a>","発汗低下を伴う先天性外胚葉形成異常症
 下位グループ    無汗性先天性外胚葉形成異常症
 上位グループ    外胚葉形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02456"">H02456</a>]","Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.",,"(ECTD1) ED1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1896"">1896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05480"">K05480</a>]
 (ECTD10A/10B) EDAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10913"">10913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05162"">K05162</a>]
 (ECTD11A/11B) EDARADD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128178"">128178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23324"">K23324</a>]
 (ECTD12) KDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126695"">126695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23346"">K23346</a>]",,,,,,"ICD-11: LD27.0
 ICD-10: Q82.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053358"">D053358</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053359"">D053359</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053360"">D053360</a>
 OMIM: <a href=""https://www.omim.org/entry/305100"">305100</a> <a href=""https://www.omim.org/entry/129490"">129490</a> <a href=""https://www.omim.org/entry/224900"">224900</a> <a href=""https://www.omim.org/entry/614940"">614940</a> <a href=""https://www.omim.org/entry/614941"">614941</a> <a href=""https://www.omim.org/entry/617337"">617337</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19504607"">19504607</a>
 著者        Priolo M
 タイトル      Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
 雑誌        Am J Med Genet A 149A:2003-13 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32804"">10.1002/ajmg.a.32804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12823289"">12823289</a>
 著者        Lamartine J
 タイトル      Towards a new classification of ectodermal dysplasias.
 雑誌        Clin Exp Dermatol 28:351-5 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2230.2003.01319.x"">10.1046/j.1365-2230.2003.01319.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27838789"">27838789</a>
 著者        Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS
 タイトル      KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
 雑誌        Hum Genet 136:99-105 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1741-z"">10.1007/s00439-016-1741-z</a>"
H00652,SMMCI 症候群,,,"Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, are associated with the disorder.",先天奇形,,SHH [HSA:6469] [KO:K11988],,,,,,"ICD-11: LA30.4
 ICD-10: K00.2
 MeSH: C537342
 OMIM: 147250","PMID:15103725
 著者        Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G
 タイトル      Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
 雑誌        Am J Med Genet A 127A:93-5 (2004)
 DOI:10.1002/ajmg.a.20685
 PMID:19341585
 著者        Bolan M, Derech CD, Ribeiro GL, Pereira ET, Almeida IC
 タイトル      Solitary median maxillary central incisor.
 雑誌        J Dent Child (Chic) 76:82-6 (2009)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00652"">H00652</a>",SMMCI 症候群,"Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, are associated with the disorder.",,"SHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6469"">6469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11988"">K11988</a>]",,,,,,"ICD-11: LA30.4
 ICD-10: K00.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537342"">C537342</a>
 OMIM: <a href=""https://www.omim.org/entry/147250"">147250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15103725"">15103725</a>
 著者        Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G
 タイトル      Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
 雑誌        Am J Med Genet A 127A:93-5 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20685"">10.1002/ajmg.a.20685</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19341585"">19341585</a>
 著者        Bolan M, Derech CD, Ribeiro GL, Pereira ET, Almeida IC
 タイトル      Solitary median maxillary central incisor.
 雑誌        J Dent Child (Chic) 76:82-6 (2009)"
H00653,"マルファン症候群
 下位グループ    マルファン・リポジストロフィ症候群",,,"Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1.",先天奇形,,FBN1 [HSA:2200] [KO:K06825],,,,,,"ICD-11: LD28.01
 ICD-10: Q87.4
 MeSH: D008382
 OMIM: 154700 616914","PMID:11706995
 著者        Robinson PN, Booms P
 タイトル      The molecular pathogenesis of the Marfan syndrome.
 雑誌        Cell Mol Life Sci 58:1698-707 (2001)
 DOI:10.1007/PL00000807
 PMID:16571647
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:10.1136/jmg.2005.039669
 PMID:12203987
 著者        Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
 タイトル      Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
 雑誌        Hum Mutat 20:153-61 (2002)
 DOI:10.1002/humu.10113
 PMID:10633129
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:10.1136/jmg.37.1.9
 PMID:20979188
 著者        Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E
 タイトル      Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
 雑誌        Am J Med Genet A 152A:2749-55 (2010)
 DOI:10.1002/ajmg.a.33690","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653"">H00653</a>","マルファン症候群
 下位グループ    マルファン・リポジストロフィ症候群","Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1.",,"FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]",,,,,,"ICD-11: LD28.01
 ICD-10: Q87.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008382"">D008382</a>
 OMIM: <a href=""https://www.omim.org/entry/154700"">154700</a> <a href=""https://www.omim.org/entry/616914"">616914</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11706995"">11706995</a>
 著者        Robinson PN, Booms P
 タイトル      The molecular pathogenesis of the Marfan syndrome.
 雑誌        Cell Mol Life Sci 58:1698-707 (2001)
 DOI:<a href=""https://doi.org/10.1007/PL00000807"">10.1007/PL00000807</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16571647"">16571647</a>
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.039669"">10.1136/jmg.2005.039669</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12203987"">12203987</a>
 著者        Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
 タイトル      Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
 雑誌        Hum Mutat 20:153-61 (2002)
 DOI:<a href=""https://doi.org/10.1002/humu.10113"">10.1002/humu.10113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10633129"">10633129</a>
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.1.9"">10.1136/jmg.37.1.9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20979188"">20979188</a>
 著者        Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E
 タイトル      Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
 雑誌        Am J Med Genet A 152A:2749-55 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33690"">10.1002/ajmg.a.33690</a>"
H00654,"バース症候群
 上位グループ    拡張型心筋症 [DS:H00294]
 ジストロフィン異常症 [DS:H00562]
 3-メチルグルタコン酸尿症 [DS:H00754]",,,"Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy, cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved in the metabolism of cardiolipin localized in the inner mitochondrial membrane.",先天代謝異常症,,TAFAZZIN [HSA:6901] [KO:K13511],,,,,,"ICD-11: 5C52.Y
 ICD-10: E71.1
 OMIM: 302060","PMID:20812380
 著者        Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P
 タイトル      Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
 雑誌        Prenat Diagn 30:970-6 (2010)
 DOI:10.1002/pd.2599
 PMID:18273731
 著者        Finsterer J, Stollberger C
 タイトル      Primary myopathies and the heart.
 雑誌        Scand Cardiovasc J 42:9-24 (2008)
 DOI:10.1080/14017430701854953","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00654"">H00654</a>","バース症候群
 上位グループ    拡張型心筋症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00294"">H00294</a>]
 ジストロフィン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00562"">H00562</a>]
 3-メチルグルタコン酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00754"">H00754</a>]","Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy, cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved in the metabolism of cardiolipin localized in the inner mitochondrial membrane.",,"TAFAZZIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6901"">6901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13511"">K13511</a>]",,,,,,"ICD-11: 5C52.Y
 ICD-10: E71.1
 OMIM: <a href=""https://www.omim.org/entry/302060"">302060</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20812380"">20812380</a>
 著者        Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P
 タイトル      Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
 雑誌        Prenat Diagn 30:970-6 (2010)
 DOI:<a href=""https://doi.org/10.1002/pd.2599"">10.1002/pd.2599</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18273731"">18273731</a>
 著者        Finsterer J, Stollberger C
 タイトル      Primary myopathies and the heart.
 雑誌        Scand Cardiovasc J 42:9-24 (2008)
 DOI:<a href=""https://doi.org/10.1080/14017430701854953"">10.1080/14017430701854953</a>"
H00655,"McLeod 症候群
 上位グループ    中核群神経有棘赤血球症 [DS:H00832]",,,"McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative.",神経系疾患,,XK [HSA:7504] [KO:K19522],,,,,,"ICD-11: 8A01.1Y
 ICD-10: G10
 MeSH: C564038
 OMIM: 300842","PMID:18273731
 著者        Finsterer J, Stollberger C
 タイトル      Primary myopathies and the heart.
 雑誌        Scand Cardiovasc J 42:9-24 (2008)
 DOI:10.1080/14017430701854953","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00655"">H00655</a>","McLeod 症候群
 上位グループ    中核群神経有棘赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>]","McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative.",,"XK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7504"">7504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19522"">K19522</a>]",,,,,,"ICD-11: 8A01.1Y
 ICD-10: G10
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564038"">C564038</a>
 OMIM: <a href=""https://www.omim.org/entry/300842"">300842</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18273731"">18273731</a>
 著者        Finsterer J, Stollberger C
 タイトル      Primary myopathies and the heart.
 雑誌        Scand Cardiovasc J 42:9-24 (2008)
 DOI:<a href=""https://doi.org/10.1080/14017430701854953"">10.1080/14017430701854953</a>"
H00656,肩甲腓骨型筋ジストロフィー,,,"Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene.",神経系疾患; 筋骨格疾患,,"(SPMM) MYH7 [HSA:4625] [KO:K17751]
 (SCPNK) DES [HSA:1674] [KO:K07610]
 (SPM) FHL1 [HSA:2273] [KO:K14365]",,,,,,"ICD-11: 8C70.5
 ICD-10: G12.1
 MeSH: C536624
 OMIM: 181430 181400 300695","PMID:21310615
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:10.1016/j.nmd.2011.01.001
 PMID:17336526 (MYH7)
 著者        Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C
 タイトル      MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
 雑誌        Neuromuscul Disord 17:321-9 (2007)
 DOI:10.1016/j.nmd.2007.01.010
 PMID:17439987 (DES)
 著者        Walter MC, Reilich P, Huebner A, Fischer D, Schroder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmuller H
 タイトル      Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
 雑誌        Brain 130:1485-96 (2007)
 DOI:10.1093/brain/awm039
 PMID:18179901 (FHL1)
 著者        Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M
 タイトル      X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
 雑誌        Am J Hum Genet 82:208-13 (2008)
 DOI:10.1016/j.ajhg.2007.09.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00656"">H00656</a>",肩甲腓骨型筋ジストロフィー,"Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene.",,"(SPMM) MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (SCPNK) DES [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1674"">1674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07610"">K07610</a>]
 (SPM) FHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2273"">2273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14365"">K14365</a>]",,,,,,"ICD-11: 8C70.5
 ICD-10: G12.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536624"">C536624</a>
 OMIM: <a href=""https://www.omim.org/entry/181430"">181430</a> <a href=""https://www.omim.org/entry/181400"">181400</a> <a href=""https://www.omim.org/entry/300695"">300695</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21310615"">21310615</a>
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2011.01.001"">10.1016/j.nmd.2011.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17336526"">17336526</a> (MYH7)
 著者        Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C
 タイトル      MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
 雑誌        Neuromuscul Disord 17:321-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2007.01.010"">10.1016/j.nmd.2007.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17439987"">17439987</a> (DES)
 著者        Walter MC, Reilich P, Huebner A, Fischer D, Schroder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmuller H
 タイトル      Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
 雑誌        Brain 130:1485-96 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm039"">10.1093/brain/awm039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179901"">18179901</a> (FHL1)
 著者        Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M
 タイトル      X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
 雑誌        Am J Hum Genet 82:208-13 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.013"">10.1016/j.ajhg.2007.09.013</a>"
H00657,還元体筋障害,,,"Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.",神経系疾患; 筋骨格疾患,,FHL1 [HSA:2273] [KO:K14365],,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: C567468 C567469
 OMIM: 300717 300718","PMID:21310615
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:10.1016/j.nmd.2011.01.001
 PMID:19171836
 著者        Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I
 タイトル      Novel FHL1 mutations in fatal and benign reducing body myopathy.
 雑誌        Neurology 72:375-6 (2009)
 DOI:10.1212/01.wnl.0000341311.84347.a0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00657"">H00657</a>",還元体筋障害,"Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.",,"FHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2273"">2273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14365"">K14365</a>]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567468"">C567468</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567469"">C567469</a>
 OMIM: <a href=""https://www.omim.org/entry/300717"">300717</a> <a href=""https://www.omim.org/entry/300718"">300718</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21310615"">21310615</a>
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2011.01.001"">10.1016/j.nmd.2011.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19171836"">19171836</a>
 著者        Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I
 タイトル      Novel FHL1 mutations in fatal and benign reducing body myopathy.
 雑誌        Neurology 72:375-6 (2009)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000341311.84347.a0"">10.1212/01.wnl.0000341311.84347.a0</a>"
H00658,"X連鎖精神遅滞症候群
 下位グループ    レンペニング症候群 [DS:H01913]
 クリスチャンソン症候群 [DS:H01914]
 Borjeson-Forssman-Lehmann 症候群 [DS:H01915]
 MRX Stocco dos Santos 型 [DS:H01916]
 CK 症候群 [DS:H01917]
 Proud 症候群 [DS:H01919]
 Partington 症候群 [DS:H01920]
 MICPCH 症候群 [DS:H01921]
 MEHMO 症候群 [DS:H02195]
 X 連鎖性クレアチン欠乏症候群 [DS:H02196]
 メチルマロン酸血症およびホモシステイン血症, cblX 型 [DS:H02222]
 MRX Turner 型 (MRXST)
 Siderius 型 (MRXSSD)
 Cabezas 型 (MRXSC)
 Raymond 型 (MRXSR)
 Hedera 型 (MRXSH)
 Claes-Jencen 型 (MRXSCJ)
 Wu 型 (MRXSW)
 Bain 型 (MRXSB)
 Houge 型 (MRXSHG)
 Nascimento 型 (MRXSN)
 Basilicata-Akhtar 型 (MRXSBA)
 Armfield 型 (MRXSA)
 Hackman-Di Donato 型 (MRXSHD)
 Paganini-Miozzo 型 (MRXSPM)
 Van Esch-O'Driscoll 型 (MRXSVEOD)
 FRAXE 型
 汎下垂体機能低下症を伴う MRX (MRGH)
 小脳低形成を伴う MRX (MRX60)",,,"X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic (MRXS) and non-syndromic (MRX) forms, depending on whether further abnormalities are found or not. Syndromic XLMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.",精神及び行動の障害,,"(MRXST) HUWE1 [HSA:10075] [KO:K10592]
 (MRXSSD) PHF8 [HSA:23133] [KO:K19415]
 (MRXSC) CUL4B [HSA:8450] [KO:K10609]
 (MRXSR) ZDHHC9 [HSA:51114] [KO:K25778]
 (MRXSH) ATP6AP2 [HSA:10159] [KO:K19514]
 (MRXSCJ) KDM5C [HSA:8242] [KO:K11446]
 (MRXSW) GRIA3 [HSA:2892] [KO:K05199]
 (MRXSB) HNRNPH2 [HSA:3188] [KO:K12898]
 (MRXSHG) CNKSR2 [HSA:22866] [KO:K17536]
 (MRXSN) UBE2A [HSA:7319] [KO:K10573]
 (MRXSBA) MSL3 [HSA:10943] [KO:K18403]
 (MRXSA) FAM50A [HSA:9130] [KO:K13119]
 (MRXSHD) NKAP [HSA:79576] [KO:K25931]
 (MRXSPM) HS6ST2 [HSA:90161] [KO:K08102]
 (MRXSVEOD) POLA1 [HSA:5422] [KO:K02320]
 (FRAXE) AFF2 [HSA:2334] [KO:K15194]
 (MRGH) SOX3 [HSA:6658] [KO:K09267]
 (MRX60) OPHN1 [HSA:4983] [KO:K20650]
 (MRXS5_21) AP1S [HSA:8905] [KO:K12394]
 (MRXS11) RBMX [HSA:27316] [KO:K12885]
 (MRXS13) MECP2 [HSA:4204] [KO:K11588]
 (MRXS14) UPF3B [HSA:65109] [KO:K14328]
 (MRXS32) CLIC2 [HSA:1193] [KO:K05022]
 (MRXS33) TAF1 [HSA:6872] [KO:K03125]
 (MRXS34) NONO [HSA:4841] [KO:K13214]
 (MRXS35) RPL10 [HSA:6134] [KO:K02866]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: D038901
 OMIM: 309590 300263 300354 300799 300423 300534 300699 300986 301008 300860 309548 300123 300486 300238 300055 300260 300676 300886 300966 300967 300998 301032 300261 301039 301025 301030 304340","PMID:15630421
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:10.1038/nrg1501
 PMID:18252223
 著者        Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gecz J
 タイトル      Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
 雑誌        Am J Hum Genet 82:432-43 (2008)
 DOI:10.1016/j.ajhg.2007.11.002
 PMID:20548336
 著者        Qiu J, Shi G, Jia Y, Li J, Wu M, Li J, Dong S, Wong J
 タイトル      The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.
 雑誌        Cell Res 20:908-18 (2010)
 DOI:10.1038/cr.2010.81
 PMID:21816345
 著者        Nakagawa T, Xiong Y
 タイトル      X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
 雑誌        Mol Cell 43:381-91 (2011)
 DOI:10.1016/j.molcel.2011.05.033
 PMID:17436253
 著者        Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA
 タイトル      Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
 雑誌        Am J Hum Genet 80:982-7 (2007)
 DOI:10.1086/513609
 PMID:15746149
 著者        Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G
 タイトル      A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
 雑誌        Hum Mol Genet 14:1019-27 (2005)
 DOI:10.1093/hmg/ddi094
 PMID:21575681
 著者        Santos-Reboucas CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM
 タイトル      A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.
 雑誌        Neurosci Lett 498:67-71 (2011)
 DOI:10.1016/j.neulet.2011.04.065
 PMID:19449417
 著者        Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P
 タイトル      Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.
 雑誌        Am J Med Genet A 149A:1280-9 (2009)
 DOI:10.1002/ajmg.a.32858
 PMID:26571461
 著者        Mircsof D, Langouet M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Znidaric M, Alibeu O, Fritz AK, Wolfer DP, Schroter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L
 タイトル      Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
 雑誌        Nat Neurosci 18:1731-6 (2015)
 DOI:10.1038/nn.4169
 PMID:27545675
 著者        Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK
 タイトル      Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
 雑誌        Am J Hum Genet 99:728-734 (2016)
 DOI:10.1016/j.ajhg.2016.06.028
 PMID:27333055
 著者        Moortgat S, Desir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I
 タイトル      Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
 雑誌        Am J Med Genet A 170:2927-2933 (2016)
 DOI:10.1002/ajmg.a.37792
 PMID:12605440
 著者        Castro NH, dos Santos RC, Nelson R, Becak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
 タイトル      Shashi XLMR syndrome: report of a second family.
 雑誌        Am J Med Genet A 118A:49-51 (2003)
 DOI:10.1002/ajmg.a.10888
 PMID:16523516
 著者        Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T
 タイトル      The ARX mutations: a frequent cause of X-linked mental retardation.
 雑誌        Am J Med Genet A 140:727-32 (2006)
 DOI:10.1002/ajmg.a.31151
 PMID:14985377
 著者        Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA
 タイトル      Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
 雑誌        J Med Genet 41:183-6 (2004)
 DOI:10.1136/jmg.2003.013680
 PMID:12428212
 著者        Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S
 タイトル      Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
 雑誌        Am J Hum Genet 71:1450-5 (2002)
 DOI:10.1086/344661
 PMID:17704778
 著者        Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gecz J
 タイトル      Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
 雑誌        Nat Genet 39:1127-33 (2007)
 DOI:10.1038/ng2100
 PMID:26166480
 著者        Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J
 タイトル      THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
 雑誌        Am J Hum Genet 97:302-10 (2015)
 DOI:10.1016/j.ajhg.2015.05.021
 PMID:20528889
 著者        Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A
 タイトル      Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
 雑誌        Clin Genet 79:363-70 (2011)
 DOI:10.1111/j.1399-0004.2010.01462.x
 PMID:25735484
 著者        Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T
 タイトル      Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
 雑誌        Eur J Hum Genet 23:1652-6 (2015)
 DOI:10.1038/ejhg.2015.30
 PMID:20159109
 著者        Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P
 タイトル      Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
 雑誌        Am J Hum Genet 86:185-95 (2010)
 DOI:10.1016/j.ajhg.2010.01.011
 PMID:17668385
 著者        Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL
 タイトル      Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
 雑誌        Am J Hum Genet 81:367-74 (2007)
 DOI:10.1086/520677
 PMID:15915161
 著者        Mansouri MR, Marklund L, Gustavsson P, Davey E, Carlsson B, Larsson C, White I, Gustavson KH, Dahl N
 タイトル      Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
 雑誌        Eur J Hum Genet 13:970-7 (2005)
 DOI:10.1038/sj.ejhg.5201445
 PMID:19377476
 著者        Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR
 タイトル      A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
 雑誌        Nat Genet 41:535-43 (2009)
 DOI:10.1038/ng.367
 PMID:27358180
 著者        de Lange IM, Helbig KL, Weckhuysen S, Moller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP
 タイトル      De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
 雑誌        J Med Genet 53:850-858 (2016)
 DOI:10.1136/jmedgenet-2016-103909
 PMID:24690944
 著者        Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC
 タイトル      Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
 雑誌        PLoS One 9:e93409 (2014)
 DOI:10.1371/journal.pone.0093409
 PMID:24812067
 著者        Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
 タイトル      Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
 雑誌        J Med Genet 51:487-94 (2014)
 DOI:10.1136/jmedgenet-2013-102182
 PMID:24115387
 著者        Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK
 タイトル      Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
 雑誌        Hum Mutat 35:41-4 (2014)
 DOI:10.1002/humu.22453
 PMID:26235985
 著者        Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T
 タイトル      Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
 雑誌        Am J Hum Genet 97:343-52 (2015)
 DOI:10.1016/j.ajhg.2015.07.004
 PMID:28098945
 著者        Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS
 タイトル      Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
 雑誌        Epilepsia 58:e40-e43 (2017)
 DOI:10.1111/epi.13666
 PMID:16909393
 著者        Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM
 タイトル      UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
 雑誌        Am J Hum Genet 79:549-55 (2006)
 DOI:10.1086/507047
 PMID:22814392
 著者        Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF
 タイトル      An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
 雑誌        Hum Mol Genet 21:4497-507 (2012)
 DOI:10.1093/hmg/dds292
 PMID:26637982
 著者        O'Rawe JA, Wu Y, Dorfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jimenez-Barron LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Riviere JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ
 タイトル      TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
 雑誌        Am J Hum Genet 97:922-32 (2015)
 DOI:10.1016/j.ajhg.2015.11.005
 PMID:25316788
 著者        Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE
 タイトル      A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
 雑誌        Genetics 198:723-33 (2014)
 DOI:10.1534/genetics.114.168211
 PMID:30224647
 著者        Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Ounap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A
 タイトル      De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
 雑誌        Nat Genet 50:1442-1451 (2018)
 DOI:10.1038/s41588-018-0220-y
 PMID:32703943
 著者        Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Do Heo W, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE
 タイトル      Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
 雑誌        Nat Commun 11:3698 (2020)
 DOI:10.1038/s41467-020-17452-6
 PMID:31587868
 著者        Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K
 タイトル      Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
 雑誌        Am J Hum Genet 105:987-995 (2019)
 DOI:10.1016/j.ajhg.2019.09.009
 PMID:30471091
 著者        Paganini L, Hadi LA, Chetta M, Rovina D, Fontana L, Colapietro P, Bonaparte E, Pezzani L, Marchisio P, Tabano SM, Costanza J, Sirchia SM, Riboni L, Milani D, Miozzo M
 タイトル      A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
 雑誌        Clin Genet 95:368-374 (2019)
 DOI:10.1111/cge.13485
 PMID:23756445
 著者        Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB, Villard L
 タイトル      AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
 雑誌        Eur J Hum Genet 22:363-8 (2014)
 DOI:10.1038/ejhg.2013.135","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>","X連鎖精神遅滞症候群
 下位グループ    レンペニング症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01913"">H01913</a>]
 クリスチャンソン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01914"">H01914</a>]
 Borjeson-Forssman-Lehmann 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01915"">H01915</a>]
 MRX Stocco dos Santos 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01916"">H01916</a>]
 CK 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01917"">H01917</a>]
 Proud 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01919"">H01919</a>]
 Partington 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01920"">H01920</a>]
 MICPCH 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01921"">H01921</a>]
 MEHMO 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02195"">H02195</a>]
 X 連鎖性クレアチン欠乏症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02196"">H02196</a>]
 メチルマロン酸血症およびホモシステイン血症, cblX 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02222"">H02222</a>]
 MRX Turner 型 (MRXST)
 Siderius 型 (MRXSSD)
 Cabezas 型 (MRXSC)
 Raymond 型 (MRXSR)
 Hedera 型 (MRXSH)
 Claes-Jencen 型 (MRXSCJ)
 Wu 型 (MRXSW)
 Bain 型 (MRXSB)
 Houge 型 (MRXSHG)
 Nascimento 型 (MRXSN)
 Basilicata-Akhtar 型 (MRXSBA)
 Armfield 型 (MRXSA)
 Hackman-Di Donato 型 (MRXSHD)
 Paganini-Miozzo 型 (MRXSPM)
 Van Esch-O'Driscoll 型 (MRXSVEOD)
 FRAXE 型
 汎下垂体機能低下症を伴う MRX (MRGH)
 小脳低形成を伴う MRX (MRX60)","X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic (MRXS) and non-syndromic (MRX) forms, depending on whether further abnormalities are found or not. Syndromic XLMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.",,"(MRXST) HUWE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10075"">10075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10592"">K10592</a>]
 (MRXSSD) PHF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23133"">23133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19415"">K19415</a>]
 (MRXSC) CUL4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8450"">8450</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10609"">K10609</a>]
 (MRXSR) ZDHHC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51114"">51114</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25778"">K25778</a>]
 (MRXSH) ATP6AP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10159"">10159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19514"">K19514</a>]
 (MRXSCJ) KDM5C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8242"">8242</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11446"">K11446</a>]
 (MRXSW) GRIA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2892"">2892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05199"">K05199</a>]
 (MRXSB) HNRNPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3188"">3188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12898"">K12898</a>]
 (MRXSHG) CNKSR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22866"">22866</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17536"">K17536</a>]
 (MRXSN) UBE2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7319"">7319</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10573"">K10573</a>]
 (MRXSBA) MSL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10943"">10943</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18403"">K18403</a>]
 (MRXSA) FAM50A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9130"">9130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13119"">K13119</a>]
 (MRXSHD) NKAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79576"">79576</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25931"">K25931</a>]
 (MRXSPM) HS6ST2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90161"">90161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08102"">K08102</a>]
 (MRXSVEOD) POLA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5422"">5422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02320"">K02320</a>]
 (FRAXE) AFF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2334"">2334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15194"">K15194</a>]
 (MRGH) SOX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6658"">6658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09267"">K09267</a>]
 (MRX60) OPHN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4983"">4983</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20650"">K20650</a>]
 (MRXS5_21) AP1S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8905"">8905</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12394"">K12394</a>]
 (MRXS11) RBMX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27316"">27316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12885"">K12885</a>]
 (MRXS13) MECP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4204"">4204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11588"">K11588</a>]
 (MRXS14) UPF3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65109"">65109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14328"">K14328</a>]
 (MRXS32) CLIC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1193"">1193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05022"">K05022</a>]
 (MRXS33) TAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6872"">6872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03125"">K03125</a>]
 (MRXS34) NONO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4841"">4841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13214"">K13214</a>]
 (MRXS35) RPL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6134"">6134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02866"">K02866</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D038901"">D038901</a>
 OMIM: <a href=""https://www.omim.org/entry/309590"">309590</a> <a href=""https://www.omim.org/entry/300263"">300263</a> <a href=""https://www.omim.org/entry/300354"">300354</a> <a href=""https://www.omim.org/entry/300799"">300799</a> <a href=""https://www.omim.org/entry/300423"">300423</a> <a href=""https://www.omim.org/entry/300534"">300534</a> <a href=""https://www.omim.org/entry/300699"">300699</a> <a href=""https://www.omim.org/entry/300986"">300986</a> <a href=""https://www.omim.org/entry/301008"">301008</a> <a href=""https://www.omim.org/entry/300860"">300860</a> <a href=""https://www.omim.org/entry/309548"">309548</a> <a href=""https://www.omim.org/entry/300123"">300123</a> <a href=""https://www.omim.org/entry/300486"">300486</a> <a href=""https://www.omim.org/entry/300238"">300238</a> <a href=""https://www.omim.org/entry/300055"">300055</a> <a href=""https://www.omim.org/entry/300260"">300260</a> <a href=""https://www.omim.org/entry/300676"">300676</a> <a href=""https://www.omim.org/entry/300886"">300886</a> <a href=""https://www.omim.org/entry/300966"">300966</a> <a href=""https://www.omim.org/entry/300967"">300967</a> <a href=""https://www.omim.org/entry/300998"">300998</a> <a href=""https://www.omim.org/entry/301032"">301032</a> <a href=""https://www.omim.org/entry/300261"">300261</a> <a href=""https://www.omim.org/entry/301039"">301039</a> <a href=""https://www.omim.org/entry/301025"">301025</a> <a href=""https://www.omim.org/entry/301030"">301030</a> <a href=""https://www.omim.org/entry/304340"">304340</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15630421"">15630421</a>
 著者        Ropers HH, Hamel BC
 タイトル      X-linked mental retardation.
 雑誌        Nat Rev Genet 6:46-57 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1501"">10.1038/nrg1501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252223"">18252223</a>
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 DOI:<a href=""https://doi.org/10.1038/s41467-020-17452-6"">10.1038/s41467-020-17452-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31587868"">31587868</a>
 著者        Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K
 タイトル      Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
 雑誌        Am J Hum Genet 105:987-995 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.009"">10.1016/j.ajhg.2019.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30471091"">30471091</a>
 著者        Paganini L, Hadi LA, Chetta M, Rovina D, Fontana L, Colapietro P, Bonaparte E, Pezzani L, Marchisio P, Tabano SM, Costanza J, Sirchia SM, Riboni L, Milani D, Miozzo M
 タイトル      A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
 雑誌        Clin Genet 95:368-374 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13485"">10.1111/cge.13485</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23756445"">23756445</a>
 著者        Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB, Villard L
 タイトル      AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
 雑誌        Eur J Hum Genet 22:363-8 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.135"">10.1038/ejhg.2013.135</a>"
H00659,Shprintzen-Goldberg 症候群,,,"Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular anomalies.",先天奇形,,SKI [HSA:6497],,,,,"For closely related Marfan syndrome, see H00653.","ICD-11: LD28.0Y
 ICD-10: Q87.8
 MeSH: C537328
 OMIM: 182212","PMID:20301454
 著者        Greally MT
 タイトル      Shprintzen-Goldberg Syndrome
 雑誌        GeneReviews (1993)
 PMID:8563763
 著者        Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC
 タイトル      Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
 雑誌        Nat Genet 12:209-11 (1996)
 DOI:10.1038/ng0296-209
 PMID:16333834
 著者        Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T
 タイトル      Molecular pathology of Shprintzen-Goldberg syndrome.
 雑誌        Am J Med Genet A 140:104-8; author reply 109-10 (2006)
 DOI:10.1002/ajmg.a.31006
 PMID:9508238
 著者        Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW
 タイトル      Shprintzen-Goldberg syndrome: a clinical analysis.
 雑誌        Am J Med Genet 76:202-12 (1998)
 DOI:10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S
 PMID:23023332
 著者        Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC
 タイトル      Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
 雑誌        Nat Genet 44:1249-54 (2012)
 DOI:10.1038/ng.2421","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00659"">H00659</a>",Shprintzen-Goldberg 症候群,"Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular anomalies.",,"SKI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6497"">6497</a>]",,,,,"For closely related Marfan syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653."">H00653.</a>","ICD-11: LD28.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537328"">C537328</a>
 OMIM: <a href=""https://www.omim.org/entry/182212"">182212</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301454"">20301454</a>
 著者        Greally MT
 タイトル      Shprintzen-Goldberg Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8563763"">8563763</a>
 著者        Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC
 タイトル      Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
 雑誌        Nat Genet 12:209-11 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0296-209"">10.1038/ng0296-209</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16333834"">16333834</a>
 著者        Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T
 タイトル      Molecular pathology of Shprintzen-Goldberg syndrome.
 雑誌        Am J Med Genet A 140:104-8; author reply 109-10 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31006"">10.1002/ajmg.a.31006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9508238"">9508238</a>
 著者        Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW
 タイトル      Shprintzen-Goldberg syndrome: a clinical analysis.
 雑誌        Am J Med Genet 76:202-12 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980319)76:"">10.1002/(SICI)1096-8628(19980319)76:</a><a href=""https://doi.org/3<202:"">3<202:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG2>3.0.CO;2-S"">AID-AJMG2>3.0.CO;2-S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023332"">23023332</a>
 著者        Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC
 タイトル      Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
 雑誌        Nat Genet 44:1249-54 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2421"">10.1038/ng.2421</a>"
H00660,"先天性拘縮性クモ指症;
 Beals 症候群",,,"Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta or the eyes.",先天奇形,,FBN2 [HSA:2201] [KO:K23342],,,,,"For Marfan syndrome, see H00653.","ICD-11: LD28.00
 ICD-10: Q68.8
 MeSH: C536211
 OMIM: 121050","PMID:16571647
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:10.1136/jmg.2005.039669
 PMID:10633129
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:10.1136/jmg.37.1.9
 PMID:7493032
 著者        Putnam EA, Zhang H, Ramirez F, Milewicz DM
 タイトル      Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
 雑誌        Nat Genet 11:456-8 (1995)
 DOI:10.1038/ng1295-456
 PMID:20301560
 著者        Godfrey M
 タイトル      Congenital Contractural Arachnodactyly
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00660"">H00660</a>","先天性拘縮性クモ指症;
 Beals 症候群","Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta or the eyes.",,"FBN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2201"">2201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23342"">K23342</a>]",,,,,"For Marfan syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653."">H00653.</a>","ICD-11: LD28.00
 ICD-10: Q68.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536211"">C536211</a>
 OMIM: <a href=""https://www.omim.org/entry/121050"">121050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16571647"">16571647</a>
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.039669"">10.1136/jmg.2005.039669</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10633129"">10633129</a>
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.1.9"">10.1136/jmg.37.1.9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493032"">7493032</a>
 著者        Putnam EA, Zhang H, Ramirez F, Milewicz DM
 タイトル      Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
 雑誌        Nat Genet 11:456-8 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-456"">10.1038/ng1295-456</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301560"">20301560</a>
 著者        Godfrey M
 タイトル      Congenital Contractural Arachnodactyly
 雑誌        GeneReviews (1993)"
H00661,MASS 症候群,,,"MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 due to a 4 bp deletion in exon 41 is the cause of MASS phenotype.",先天奇形,,FBN1 [HSA:2200] [KO:K06825],,,,,"For Marfan syndrome, see H00653.","ICD-11: LD28.0Y
 ICD-10: Q87
 MeSH: C536030
 OMIM: 604308","PMID:16571647
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:10.1136/jmg.2005.039669
 PMID:10633129
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:10.1136/jmg.37.1.9
 PMID:8406497
 著者        Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA
 タイトル      Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
 雑誌        Genomics 17:468-75 (1993)
 DOI:10.1006/geno.1993.1349","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00661"">H00661</a>",MASS 症候群,"MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 due to a 4 bp deletion in exon 41 is the cause of MASS phenotype.",,"FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]",,,,,"For Marfan syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653."">H00653.</a>","ICD-11: LD28.0Y
 ICD-10: Q87
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536030"">C536030</a>
 OMIM: <a href=""https://www.omim.org/entry/604308"">604308</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16571647"">16571647</a>
 著者        Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related disorders.
 雑誌        J Med Genet 43:769-87 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.039669"">10.1136/jmg.2005.039669</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10633129"">10633129</a>
 著者        Robinson PN, Godfrey M
 タイトル      The molecular genetics of Marfan syndrome and related microfibrillopathies.
 雑誌        J Med Genet 37:9-25 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.1.9"">10.1136/jmg.37.1.9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8406497"">8406497</a>
 著者        Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA
 タイトル      Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
 雑誌        Genomics 17:468-75 (1993)
 DOI:<a href=""https://doi.org/10.1006/geno.1993.1349"">10.1006/geno.1993.1349</a>"
H00662,水晶体転位,,,Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL.,先天奇形,,"(ECTOL1) FBN1 [HSA:2200] [KO:K06825]
 (ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369]",,,,,"For Marfan syndrome, see H00653.","ICD-11: LA12.Y
 ICD-10: Q12.1
 MeSH: D004479
 OMIM: 129600 225100","PMID:14502058
 著者        Young TL
 タイトル      Ophthalmic genetics/inherited eye disease.
 雑誌        Curr Opin Ophthalmol 14:296-303 (2003)
 DOI:10.1097/00055735-200310000-00011
 PMID:7802039
 著者        Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC
 タイトル      Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
 雑誌        Am J Med Genet 53:65-71 (1994)
 DOI:10.1002/ajmg.1320530114
 PMID:15054843 (FBN1)
 著者        Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B
 タイトル      Ectopia lentis phenotypes and the FBN1 gene.
 雑誌        Am J Med Genet A 126A:284-9 (2004)
 DOI:10.1002/ajmg.a.20605
 PMID:19200529 (ADAMTSL4)
 著者        Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H
 タイトル      A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
 雑誌        Am J Hum Genet 84:274-8 (2009)
 DOI:10.1016/j.ajhg.2009.01.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00662"">H00662</a>",水晶体転位,Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL.,,"(ECTOL1) FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]
 (ECTOL2) ADAMTSL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54507"">54507</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23369"">K23369</a>]",,,,,"For Marfan syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653."">H00653.</a>","ICD-11: LA12.Y
 ICD-10: Q12.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004479"">D004479</a>
 OMIM: <a href=""https://www.omim.org/entry/129600"">129600</a> <a href=""https://www.omim.org/entry/225100"">225100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14502058"">14502058</a>
 著者        Young TL
 タイトル      Ophthalmic genetics/inherited eye disease.
 雑誌        Curr Opin Ophthalmol 14:296-303 (2003)
 DOI:<a href=""https://doi.org/10.1097/00055735-200310000-00011"">10.1097/00055735-200310000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7802039"">7802039</a>
 著者        Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC
 タイトル      Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
 雑誌        Am J Med Genet 53:65-71 (1994)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320530114"">10.1002/ajmg.1320530114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15054843"">15054843</a> (FBN1)
 著者        Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B
 タイトル      Ectopia lentis phenotypes and the FBN1 gene.
 雑誌        Am J Med Genet A 126A:284-9 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20605"">10.1002/ajmg.a.20605</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19200529"">19200529</a> (ADAMTSL4)
 著者        Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H
 タイトル      A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
 雑誌        Am J Hum Genet 84:274-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.01.007"">10.1016/j.ajhg.2009.01.007</a>"
H00663,拘束性皮膚障害,,,"Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.",先天奇形,,"(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013]
 (RSDM2) LMNA [HSA:4000] [KO:K12641]",,,,,,"ICD-11: EE6Y
 ICD-10: Q82.8
 MeSH: C536920
 OMIM: 275210 619793","PMID:19020898
 著者        Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H
 タイトル      Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
 雑誌        Eur J Pediatr 168:1007-12 (2009)
 DOI:10.1007/s00431-008-0868-x
 PMID:9217218
 著者        Mau U, Kendziorra H, Kaiser P, Enders H
 タイトル      Restrictive dermopathy: report and review.
 雑誌        Am J Med Genet 71:179-85 (1997)
 DOI:10.1002/(SICI)1096-8628(19970808)71:2<179::AID-AJMG11>3.0.CO;2-B
 PMID:20635340 (ZMPSTE24)
 著者        Miner JH
 タイトル      Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
 雑誌        Am J Med Genet A 152A:2140-1; author reply 2142 (2010)
 DOI:10.1002/ajmg.a.33503
 PMID:15317753 (LMNA, ZMPSTE24)
 著者        Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N
 タイトル      Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
 雑誌        Hum Mol Genet 13:2493-503 (2004)
 DOI:10.1093/hmg/ddh265","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00663"">H00663</a>",拘束性皮膚障害,"Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.",,"(RSDM1) ZMPSTE24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10269"">10269</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06013"">K06013</a>]
 (RSDM2) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]",,,,,,"ICD-11: EE6Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536920"">C536920</a>
 OMIM: <a href=""https://www.omim.org/entry/275210"">275210</a> <a href=""https://www.omim.org/entry/619793"">619793</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19020898"">19020898</a>
 著者        Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H
 タイトル      Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
 雑誌        Eur J Pediatr 168:1007-12 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00431-008-0868-x"">10.1007/s00431-008-0868-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9217218"">9217218</a>
 著者        Mau U, Kendziorra H, Kaiser P, Enders H
 タイトル      Restrictive dermopathy: report and review.
 雑誌        Am J Med Genet 71:179-85 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19970808)71:"">10.1002/(SICI)1096-8628(19970808)71:</a><a href=""https://doi.org/2<179:"">2<179:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG11>3.0.CO;2-B"">AID-AJMG11>3.0.CO;2-B</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20635340"">20635340</a> (ZMPSTE24)
 著者        Miner JH
 タイトル      Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
 雑誌        Am J Med Genet A 152A:2140-1; author reply 2142 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33503"">10.1002/ajmg.a.33503</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15317753"">15317753</a> (LMNA, <a href=""https://pubmed.ncbi.nlm.nih.gov/ZMPSTE24)"">ZMPSTE24)</a>
 著者        Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N
 タイトル      Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
 雑誌        Hum Mol Genet 13:2493-503 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh265"">10.1093/hmg/ddh265</a>"
H00664,解糖系酵素障害による貧血,,,"Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those of any other glycolytic enzyme deficiency.",血液疾患,,"HK1 [HSA:3098] [KO:K00844]
 PGK1 [HSA:5230] [KO:K00927]
 TPI1 [HSA:7167] [KO:K01803]
 GPI [HSA:2821] [KO:K01810]
 BPGM [HSA:669] [KO:K01837]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D55.2
 OMIM: 235700 300653 190450 613470 222800","PMID:10699493
 著者        Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
 タイトル      Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
 雑誌        Biochim Biophys Acta 1474:75-87 (2000)
 DOI:10.1016/S0304-4165(99)00218-4
 PMID:12393545
 著者        van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW
 タイトル      HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
 雑誌        Blood 101:345-7 (2003)
 DOI:10.1182/blood-2002-06-1851
 PMID:17222195
 著者        Beutler E
 タイトル      PGK deficiency.
 雑誌        Br J Haematol 136:3-11 (2007)
 DOI:10.1111/j.1365-2141.2006.06351.x
 PMID:16086671
 著者        Olah J, Orosz F, Puskas LG, Hackler L Jr, Horanyi M, Polgar L, Hollan S, Ovadi J
 タイトル      Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
 雑誌        Biochem J 392:675-83 (2005)
 DOI:10.1042/BJ20050993
 PMID:20516363
 著者        Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
 タイトル      Amoxicillin-induced hemolytic anemia in a child with glucose 6-phosphate isomerase deficiency.
 雑誌        Ann Pharmacother 44:1327-9 (2010)
 DOI:10.1345/aph.1P030
 PMID:15054810
 著者        Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
 タイトル      Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
 雑誌        Am J Hematol 75:205-8 (2004)
 DOI:10.1002/ajh.20014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00664"">H00664</a>",解糖系酵素障害による貧血,"Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those of any other glycolytic enzyme deficiency.",,"HK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3098"">3098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00844"">K00844</a>]
 PGK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5230"">5230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00927"">K00927</a>]
 TPI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7167"">7167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01803"">K01803</a>]
 GPI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2821"">2821</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01810"">K01810</a>]
 BPGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:669"">669</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01837"">K01837</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D55.2
 OMIM: <a href=""https://www.omim.org/entry/235700"">235700</a> <a href=""https://www.omim.org/entry/300653"">300653</a> <a href=""https://www.omim.org/entry/190450"">190450</a> <a href=""https://www.omim.org/entry/613470"">613470</a> <a href=""https://www.omim.org/entry/222800"">222800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10699493"">10699493</a>
 著者        Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
 タイトル      Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
 雑誌        Biochim Biophys Acta 1474:75-87 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0304-4165(99)00218-4"">10.1016/S0304-4165(99)00218-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12393545"">12393545</a>
 著者        van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW
 タイトル      HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
 雑誌        Blood 101:345-7 (2003)
 DOI:<a href=""https://doi.org/10.1182/blood-2002-06-1851"">10.1182/blood-2002-06-1851</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17222195"">17222195</a>
 著者        Beutler E
 タイトル      PGK deficiency.
 雑誌        Br J Haematol 136:3-11 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2006.06351.x"">10.1111/j.1365-2141.2006.06351.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16086671"">16086671</a>
 著者        Olah J, Orosz F, Puskas LG, Hackler L Jr, Horanyi M, Polgar L, Hollan S, Ovadi J
 タイトル      Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
 雑誌        Biochem J 392:675-83 (2005)
 DOI:<a href=""https://doi.org/10.1042/BJ20050993"">10.1042/BJ20050993</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20516363"">20516363</a>
 著者        Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
 タイトル      Amoxicillin-induced hemolytic anemia in a child with glucose 6-phosphate isomerase deficiency.
 雑誌        Ann Pharmacother 44:1327-9 (2010)
 DOI:<a href=""https://doi.org/10.1345/aph.1P030"">10.1345/aph.1P030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15054810"">15054810</a>
 著者        Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
 タイトル      Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
 雑誌        Am J Hematol 75:205-8 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajh.20014"">10.1002/ajh.20014</a>"
H00665,"下顎骨異形成
 上位グループ    脂肪萎縮症 [DS:H01475]",,,"Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder.",先天奇形,,"(type A) LMNA [HSA:4000] [KO:K12641]
 (type B) ZMPSTE24 [HSA:10269] [KO:K06013]",,,,,,"ICD-11: LD27.60
 ICD-10: Q87.5
 MeSH: C535705 C535706
 OMIM: 248370 608612","PMID:20182615
 著者        Worman HJ, Ostlund C, Wang Y
 タイトル      Diseases of the nuclear envelope.
 雑誌        Cold Spring Harb Perspect Biol 2:a000760 (2010)
 DOI:10.1101/cshperspect.a000760
 PMID:17467691
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:10.1016/j.yexcr.2007.03.028
 PMID:14615129
 著者        Bonne G, Levy N
 タイトル      LMNA mutations in atypical Werner's syndrome.
 雑誌        Lancet 362:1585-6; author reply 1586 (2003)
 DOI:10.1016/S0140-6736(03)14761-7
 PMID:16364671
 著者        Jacob KN, Garg A
 タイトル      Laminopathies: multisystem dystrophy syndromes.
 雑誌        Mol Genet Metab 87:289-302 (2006)
 DOI:10.1016/j.ymgme.2005.10.018
 PMID:21267004
 著者        Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadinanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Levy N, Bonne G
 タイトル      Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
 雑誌        Eur J Hum Genet 19:647-54 (2011)
 DOI:10.1038/ejhg.2010.256
 PMID:20814950
 著者        Ahmad Z, Zackai E, Medne L, Garg A
 タイトル      Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
 雑誌        Am J Med Genet A 152A:2703-10 (2010)
 DOI:10.1002/ajmg.a.33664","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00665"">H00665</a>","下顎骨異形成
 上位グループ    脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01475"">H01475</a>]","Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder.",,"(type A) LMNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4000"">4000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12641"">K12641</a>]
 (type B) ZMPSTE24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10269"">10269</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06013"">K06013</a>]",,,,,,"ICD-11: LD27.60
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535705"">C535705</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535706"">C535706</a>
 OMIM: <a href=""https://www.omim.org/entry/248370"">248370</a> <a href=""https://www.omim.org/entry/608612"">608612</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20182615"">20182615</a>
 著者        Worman HJ, Ostlund C, Wang Y
 タイトル      Diseases of the nuclear envelope.
 雑誌        Cold Spring Harb Perspect Biol 2:a000760 (2010)
 DOI:<a href=""https://doi.org/10.1101/cshperspect.a000760"">10.1101/cshperspect.a000760</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17467691"">17467691</a>
 著者        Worman HJ, Bonne G
 タイトル      ""Laminopathies"": a wide spectrum of human diseases.
 雑誌        Exp Cell Res 313:2121-33 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2007.03.028"">10.1016/j.yexcr.2007.03.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14615129"">14615129</a>
 著者        Bonne G, Levy N
 タイトル      LMNA mutations in atypical Werner's syndrome.
 雑誌        Lancet 362:1585-6; author reply 1586 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14761-7"">10.1016/S0140-6736(03)14761-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16364671"">16364671</a>
 著者        Jacob KN, Garg A
 タイトル      Laminopathies: multisystem dystrophy syndromes.
 雑誌        Mol Genet Metab 87:289-302 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.10.018"">10.1016/j.ymgme.2005.10.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21267004"">21267004</a>
 著者        Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadinanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Levy N, Bonne G
 タイトル      Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
 雑誌        Eur J Hum Genet 19:647-54 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.256"">10.1038/ejhg.2010.256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20814950"">20814950</a>
 著者        Ahmad Z, Zackai E, Medne L, Garg A
 タイトル      Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
 雑誌        Am J Med Genet A 152A:2703-10 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33664"">10.1002/ajmg.a.33664</a>"
H00666,ポイツ・ジェーガーズ症候群,,,"Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation.",,,STK11 [HSA:6794] [KO:K07298],,,,,,"ICD-11: LD2D.0
 ICD-10: Q85.8
 MeSH: D010580
 OMIM: 175200","PMID:20581245
 著者        Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
 タイトル      Peutz-Jeghers syndrome: a systematic review and recommendations for management.
 雑誌        Gut 59:975-86 (2010)
 DOI:10.1136/gut.2009.198499
 PMID:15121768
 著者        Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML
 タイトル      Genotype-phenotype correlations in Peutz-Jeghers syndrome.
 雑誌        J Med Genet 41:327-33 (2004)
 DOI:10.1136/jmg.2003.010900
 PMID:20051941
 著者        van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME
 タイトル      High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.
 雑誌        Am J Gastroenterol 105:1258-64; author reply 1265 (2010)
 DOI:10.1038/ajg.2009.725","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00666"">H00666</a>",ポイツ・ジェーガーズ症候群,"Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation.",,"STK11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6794"">6794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07298"">K07298</a>]",,,,,,"ICD-11: LD2D.0
 ICD-10: Q85.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010580"">D010580</a>
 OMIM: <a href=""https://www.omim.org/entry/175200"">175200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20581245"">20581245</a>
 著者        Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
 タイトル      Peutz-Jeghers syndrome: a systematic review and recommendations for management.
 雑誌        Gut 59:975-86 (2010)
 DOI:<a href=""https://doi.org/10.1136/gut.2009.198499"">10.1136/gut.2009.198499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15121768"">15121768</a>
 著者        Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML
 タイトル      Genotype-phenotype correlations in Peutz-Jeghers syndrome.
 雑誌        J Med Genet 41:327-33 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.010900"">10.1136/jmg.2003.010900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20051941"">20051941</a>
 著者        van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME
 タイトル      High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.
 雑誌        Am J Gastroenterol 105:1258-64; author reply 1265 (2010)
 DOI:<a href=""https://doi.org/10.1038/ajg.2009.725"">10.1038/ajg.2009.725</a>"
H00667,"縮毛症
 下位グループ    常染色体優性遺伝性縮毛症
 常染色体劣性遺伝性縮毛症",,,Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).,先天奇形,,"(ADWH) KRT74 [HSA:121391] [KO:K07605]
 (ARWH1/HYPT8) LPAR6 [HSA:10161] [KO:K04273]
 (ARWH2/HYPT7) LIPH [HSA:200879] [KO:K19404]
 (ARWH3) KRT25 [HSA:147183] [KO:K07604]",,,,,,"ICD-11: EC21.0
 ICD-10: Q84.2
 MeSH: C564735
 OMIM: 194300 278150 604379 616760","PMID:21890491
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:10.1093/hmg/ddr379
 PMID:20346438 (KRT74)
 著者        Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM
 タイトル      Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
 雑誌        Am J Hum Genet 86:632-8 (2010)
 DOI:10.1016/j.ajhg.2010.02.025
 PMID:18297072 (LPAR6)
 著者        Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM
 タイトル      Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
 雑誌        Nat Genet 40:335-9 (2008)
 DOI:10.1038/ng.100
 PMID:18830268 (LIPH)
 著者        Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM
 タイトル      Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
 雑誌        J Invest Dermatol 129:622-8 (2009)
 DOI:10.1038/jid.2008.290
 PMID:26160856 (KRT25)
 著者        Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM
 タイトル      A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
 雑誌        J Med Genet 52:676-80 (2015)
 DOI:10.1136/jmedgenet-2015-103255","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00667"">H00667</a>","縮毛症
 下位グループ    常染色体優性遺伝性縮毛症
 常染色体劣性遺伝性縮毛症",Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).,,"(ADWH) KRT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121391"">121391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (ARWH1/HYPT8) LPAR6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10161"">10161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04273"">K04273</a>]
 (ARWH2/HYPT7) LIPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200879"">200879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19404"">K19404</a>]
 (ARWH3) KRT25 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147183"">147183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: EC21.0
 ICD-10: Q84.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564735"">C564735</a>
 OMIM: <a href=""https://www.omim.org/entry/194300"">194300</a> <a href=""https://www.omim.org/entry/278150"">278150</a> <a href=""https://www.omim.org/entry/604379"">604379</a> <a href=""https://www.omim.org/entry/616760"">616760</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21890491"">21890491</a>
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr379"">10.1093/hmg/ddr379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20346438"">20346438</a> (KRT74)
 著者        Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM
 タイトル      Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
 雑誌        Am J Hum Genet 86:632-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.025"">10.1016/j.ajhg.2010.02.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18297072"">18297072</a> (LPAR6)
 著者        Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM
 タイトル      Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
 雑誌        Nat Genet 40:335-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.100"">10.1038/ng.100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18830268"">18830268</a> (LIPH)
 著者        Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM
 タイトル      Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
 雑誌        J Invest Dermatol 129:622-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/jid.2008.290"">10.1038/jid.2008.290</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26160856"">26160856</a> (KRT25)
 著者        Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM
 タイトル      A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
 雑誌        J Med Genet 52:676-80 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103255"">10.1136/jmedgenet-2015-103255</a>"
H00668,"グルタチオン代謝障害による貧血
 下位グループ    グルコース-6-リン酸脱水素酵素欠損症 [DS:H01375]
 グルタチオンペルオキシダーゼ欠損症
 γ-グルタミルシステイン合成酵素欠損症
 グルタチオン合成酵素欠損症 [DS:H02312]
 グルタチオン還元酵素欠損症",,,"Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency.",循環器系疾患; 先天性代謝異常症,nt06026  Glutathione biosynthesis,"G6PD [HSA:2539] [KO:K00036]
 GPX1 [HSA:2876] [KO:K00432]
 GCLC [HSA:2729] [KO:K11204]
 GSS [HSA:2937] [KO:K21456]
 GSR [HSA:2936] [KO:K00383]",,,,,,"ICD-11: 3A10.0
 ICD-10: D55.0 D55.1
 MeSH: D005955 C564217 C565557 C536835
 OMIM: 300908 614164 230450 231900 618660","PMID:8634459
 著者        Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
 タイトル      Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
 雑誌        Blood 87:2071-4 (1996)
 PMID:21852236 (GPX1)
 著者        Lubos E, Kelly NJ, Oldebeken SR, Leopold JA, Zhang YY, Loscalzo J, Handy DE
 タイトル      Glutathione Peroxidase-1 Deficiency Augments Proinflammatory Cytokine-induced Redox Signaling and Human Endothelial Cell Activation.
 雑誌        J Biol Chem 286:35407-17 (2011)
 DOI:10.1074/jbc.M110.205708
 PMID:10515893 (GCLC)
 著者        Beutler E, Gelbart T, Kondo T, Matsunaga AT
 タイトル      The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
 雑誌        Blood 94:2890-4 (1999)
 PMID:15717202 (GSS)
 著者        Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S
 タイトル      Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
 雑誌        Hum Genet 116:384-9 (2005)
 DOI:10.1007/s00439-005-1255-6
 PMID:17185460 (GSR)
 著者        Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D
 タイトル      Molecular basis of glutathione reductase deficiency in human blood cells.
 雑誌        Blood 109:3560-6 (2007)
 DOI:10.1182/blood-2006-08-042531","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00668"">H00668</a>","グルタチオン代謝障害による貧血
 下位グループ    グルコース-6-リン酸脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01375"">H01375</a>]
 グルタチオンペルオキシダーゼ欠損症
 γ-グルタミルシステイン合成酵素欠損症
 グルタチオン合成酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02312"">H02312</a>]
 グルタチオン還元酵素欠損症","Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency.","<a href=""https://www.kegg.jp/network/nt06026"">nt06026</a>  Glutathione biosynthesis","G6PD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2539"">2539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00036"">K00036</a>]
 GPX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2876"">2876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00432"">K00432</a>]
 GCLC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2729"">2729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11204"">K11204</a>]
 GSS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2937"">2937</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21456"">K21456</a>]
 GSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2936"">2936</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00383"">K00383</a>]",,,,,,"ICD-11: 3A10.0
 ICD-10: D55.0 D55.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005955"">D005955</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564217"">C564217</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565557"">C565557</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536835"">C536835</a>
 OMIM: <a href=""https://www.omim.org/entry/300908"">300908</a> <a href=""https://www.omim.org/entry/614164"">614164</a> <a href=""https://www.omim.org/entry/230450"">230450</a> <a href=""https://www.omim.org/entry/231900"">231900</a> <a href=""https://www.omim.org/entry/618660"">618660</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8634459"">8634459</a>
 著者        Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
 タイトル      Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
 雑誌        Blood 87:2071-4 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21852236"">21852236</a> (GPX1)
 著者        Lubos E, Kelly NJ, Oldebeken SR, Leopold JA, Zhang YY, Loscalzo J, Handy DE
 タイトル      Glutathione Peroxidase-1 Deficiency Augments Proinflammatory Cytokine-induced Redox Signaling and Human Endothelial Cell Activation.
 雑誌        J Biol Chem 286:35407-17 (2011)
 DOI:<a href=""https://doi.org/10.1074/jbc.M110.205708"">10.1074/jbc.M110.205708</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10515893"">10515893</a> (GCLC)
 著者        Beutler E, Gelbart T, Kondo T, Matsunaga AT
 タイトル      The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
 雑誌        Blood 94:2890-4 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15717202"">15717202</a> (GSS)
 著者        Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S
 タイトル      Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
 雑誌        Hum Genet 116:384-9 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1255-6"">10.1007/s00439-005-1255-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17185460"">17185460</a> (GSR)
 著者        Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D
 タイトル      Molecular basis of glutathione reductase deficiency in human blood cells.
 雑誌        Blood 109:3560-6 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2006-08-042531"">10.1182/blood-2006-08-042531</a>"
H00669,"Naxos 病
 下位グループ    Carvajal 症候群 [DS:H02094]",,,"Naxos disease is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence.",先天奇形,,JUP [HSA:3728] [KO:K10056],,,,,,"ICD-11: BC43.6
 ICD-10: Q87.8
 MeSH: C538346
 OMIM: 601214","PMID:15210133
 著者        Protonotarios N, Tsatsopoulou A
 タイトル      Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Cardiovasc Pathol 13:185-94 (2004)
 DOI:10.1016/j.carpath.2004.03.609
 PMID:10902626
 著者        McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ
 タイトル      Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
 雑誌        Lancet 355:2119-24 (2000)
 DOI:10.1016/S0140-6736(00)02379-5
 PMID:9738775
 著者        Carvajal-Huerta L
 タイトル      Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
 雑誌        J Am Acad Dermatol 39:418-21 (1998)
 DOI:10.1016/S0190-9622(98)70317-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00669"">H00669</a>","Naxos 病
 下位グループ    Carvajal 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02094"">H02094</a>]","Naxos disease is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence.",,"JUP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3728"">3728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10056"">K10056</a>]",,,,,,"ICD-11: BC43.6
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538346"">C538346</a>
 OMIM: <a href=""https://www.omim.org/entry/601214"">601214</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15210133"">15210133</a>
 著者        Protonotarios N, Tsatsopoulou A
 タイトル      Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Cardiovasc Pathol 13:185-94 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.carpath.2004.03.609"">10.1016/j.carpath.2004.03.609</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10902626"">10902626</a>
 著者        McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ
 タイトル      Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
 雑誌        Lancet 355:2119-24 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(00)02379-5"">10.1016/S0140-6736(00)02379-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9738775"">9738775</a>
 著者        Carvajal-Huerta L
 タイトル      Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
 雑誌        J Am Acad Dermatol 39:418-21 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0190-9622(98)70317-2"">10.1016/S0190-9622(98)70317-2</a>"
H00670,連珠毛,,,Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific keratins lead to monilethrix.,先天奇形,,"KRT81 [HSA:3887] [KO:K07605]
 KRT83 [HSA:3889] [KO:K07605]
 KRT86 [HSA:3892] [KO:K07605]",,,,,,"ICD-11: EC21.0
 ICD-10: Q84.1
 MeSH: D056734
 OMIM: 158000","PMID:17428470
 著者        Schweizer J, Langbein L, Rogers MA, Winter H
 タイトル      Hair follicle-specific keratins and their diseases.
 雑誌        Exp Cell Res 313:2010-20 (2007)
 DOI:10.1016/j.yexcr.2007.02.032
 PMID:21890491
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:10.1093/hmg/ddr379
 PMID:21496408 (drug)
 著者        Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M
 タイトル      Monilethrix treated with minoxidil.
 雑誌        Int J Immunopathol Pharmacol 24:239-42 (2011)
 DOI:10.1177/039463201102400129","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00670"">H00670</a>",連珠毛,Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific keratins lead to monilethrix.,,"KRT81 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3887"">3887</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT83 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3889"">3889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT86 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3892"">3892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: EC21.0
 ICD-10: Q84.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056734"">D056734</a>
 OMIM: <a href=""https://www.omim.org/entry/158000"">158000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17428470"">17428470</a>
 著者        Schweizer J, Langbein L, Rogers MA, Winter H
 タイトル      Hair follicle-specific keratins and their diseases.
 雑誌        Exp Cell Res 313:2010-20 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2007.02.032"">10.1016/j.yexcr.2007.02.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21890491"">21890491</a>
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr379"">10.1093/hmg/ddr379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496408"">21496408</a> (drug)
 著者        Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M
 タイトル      Monilethrix treated with minoxidil.
 雑誌        Int J Immunopathol Pharmacol 24:239-42 (2011)
 DOI:<a href=""https://doi.org/10.1177/039463201102400129"">10.1177/039463201102400129</a>"
H00671,ネザートン症候群,,,"Netherton syndrome is a rare autosomal recessive genodermatosis consisting of erythroderma, ichthyosis linearis circumflexa, and hair shaft abnormalities with a bamboo shoot appearance (trichorrhexis invaginata). Atopic diathesis is commonly associated with the condition.",先天奇形,,SPINK5 [HSA:11005] [KO:K23420],,,,,,"ICD-11: LD27.2
 ICD-10: Q80.8
 MeSH: D056770
 OMIM: 256500","PMID:12130905 (description, gene, marker)
 著者        Siegel DH, Howard R
 タイトル      Molecular advances in genetic skin diseases.
 雑誌        Curr Opin Pediatr 14:419-25 (2002)
 DOI:10.1097/00008480-200208000-00011
 PMID:16796630 (description, gene, marker)
 著者        Sun JD, Linden KG
 タイトル      Netherton syndrome: a case report and review of the literature.
 雑誌        Int J Dermatol 45:693-7 (2006)
 DOI:10.1111/j.1365-4632.2005.02637.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00671"">H00671</a>",ネザートン症候群,"Netherton syndrome is a rare autosomal recessive genodermatosis consisting of erythroderma, ichthyosis linearis circumflexa, and hair shaft abnormalities with a bamboo shoot appearance (trichorrhexis invaginata). Atopic diathesis is commonly associated with the condition.",,"SPINK5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11005"">11005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23420"">K23420</a>]",,,,,,"ICD-11: LD27.2
 ICD-10: Q80.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056770"">D056770</a>
 OMIM: <a href=""https://www.omim.org/entry/256500"">256500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12130905"">12130905</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Siegel DH, Howard R
 タイトル      Molecular advances in genetic skin diseases.
 雑誌        Curr Opin Pediatr 14:419-25 (2002)
 DOI:<a href=""https://doi.org/10.1097/00008480-200208000-00011"">10.1097/00008480-200208000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16796630"">16796630</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Sun JD, Linden KG
 タイトル      Netherton syndrome: a case report and review of the literature.
 雑誌        Int J Dermatol 45:693-7 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2005.02637.x"">10.1111/j.1365-4632.2005.02637.x</a>"
H00672,偽鬚毛嚢炎,,,"Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the facial and submental regions. It is caused when highly curved hair shafts repenetrate the skin. A single nucleotide polymorphism in KRT75, which leads to a disruptive Ala12Thr substitution, has been demonstrated in the disease.",皮膚疾患,,KRT75 (polymorphism) [HSA:9119] [KO:K07605],,,,,,"ICD-11: ED9Y
 MeSH: C563016
 OMIM: 612318","PMID:15086549
 著者        Winter H, Schissel D, Parry DA, Smith TA, Liovic M, Birgitte Lane E, Edler L, Langbein L, Jave-Suarez LF, Rogers MA, Wilde J, Peters G, Schweizer J
 タイトル      An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.
 雑誌        J Invest Dermatol 122:652-7 (2004)
 DOI:10.1111/j.0022-202X.2004.22309.x
 PMID:17803606
 著者        Quarles FN, Brody H, Johnson BA, Badreshia S, Vause SE, Brauner G, Breadon JY, Swinehart J, Callendar V
 タイトル      Pseudofolliculitis barbae.
 雑誌        Dermatol Ther 20:133-6 (2007)
 DOI:10.1111/j.1529-8019.2007.00124.x
 PMID:15113283
 著者        Bridgeman-Shah S
 タイトル      The medical and surgical therapy of pseudofolliculitis barbae.
 雑誌        Dermatol Ther 17:158-63 (2004)
 DOI:10.1111/j.1396-0296.2004.04016.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00672"">H00672</a>",偽鬚毛嚢炎,"Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the facial and submental regions. It is caused when highly curved hair shafts repenetrate the skin. A single nucleotide polymorphism in KRT75, which leads to a disruptive Ala12Thr substitution, has been demonstrated in the disease.",,"KRT75 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9119"">9119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: ED9Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563016"">C563016</a>
 OMIM: <a href=""https://www.omim.org/entry/612318"">612318</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15086549"">15086549</a>
 著者        Winter H, Schissel D, Parry DA, Smith TA, Liovic M, Birgitte Lane E, Edler L, Langbein L, Jave-Suarez LF, Rogers MA, Wilde J, Peters G, Schweizer J
 タイトル      An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.
 雑誌        J Invest Dermatol 122:652-7 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0022-202X.2004.22309.x"">10.1111/j.0022-202X.2004.22309.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17803606"">17803606</a>
 著者        Quarles FN, Brody H, Johnson BA, Badreshia S, Vause SE, Brauner G, Breadon JY, Swinehart J, Callendar V
 タイトル      Pseudofolliculitis barbae.
 雑誌        Dermatol Ther 20:133-6 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1529-8019.2007.00124.x"">10.1111/j.1529-8019.2007.00124.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15113283"">15113283</a>
 著者        Bridgeman-Shah S
 タイトル      The medical and surgical therapy of pseudofolliculitis barbae.
 雑誌        Dermatol Ther 17:158-63 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1396-0296.2004.04016.x"">10.1111/j.1396-0296.2004.04016.x</a>"
H00673,Weill-Marchesani 症候群,,,"Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of this syndrome.",先天奇形,,"(WMS1) ADAMTS10 [HSA:81794] [KO:K08625]
 (WMS2) FBN1 [HSA:2200] [KO:K06825]
 (WMS3) LTBP2 [HSA:4053] [KO:K08023]
 (WMS4) ADAMTS17 [HSA:170691] [KO:K08631]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.1
 MeSH: D056846
 OMIM: 277600 608328 614819 613195","PMID:14598350
 著者        Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
 雑誌        Am J Med Genet A 123A:204-7 (2003)
 DOI:10.1002/ajmg.a.20289
 PMID:20301293
 著者        Tsilou E, MacDonald IM
 タイトル      Weill-Marchesani Syndrome
 雑誌        GeneReviews (1993)
 PMID:19836009 (ADAMTS10 ADAMTS17)
 著者        Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N
 タイトル      Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
 雑誌        Am J Hum Genet 85:558-68 (2009)
 DOI:10.1016/j.ajhg.2009.09.011
 PMID:12525539 (FBN1)
 著者        Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V
 タイトル      In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
 雑誌        J Med Genet 40:34-6 (2003)
 DOI:10.1136/jmg.40.1.34
 PMID:22539340 (LTBP2)
 著者        Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E
 タイトル      LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
 雑誌        Hum Mutat 33:1182-7 (2012)
 DOI:10.1002/humu.22105","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00673"">H00673</a>",Weill-Marchesani 症候群,"Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of this syndrome.",,"(WMS1) ADAMTS10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81794"">81794</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08625"">K08625</a>]
 (WMS2) FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]
 (WMS3) LTBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4053"">4053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]
 (WMS4) ADAMTS17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170691"">170691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08631"">K08631</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056846"">D056846</a>
 OMIM: <a href=""https://www.omim.org/entry/277600"">277600</a> <a href=""https://www.omim.org/entry/608328"">608328</a> <a href=""https://www.omim.org/entry/614819"">614819</a> <a href=""https://www.omim.org/entry/613195"">613195</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14598350"">14598350</a>
 著者        Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
 雑誌        Am J Med Genet A 123A:204-7 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20289"">10.1002/ajmg.a.20289</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301293"">20301293</a>
 著者        Tsilou E, MacDonald IM
 タイトル      Weill-Marchesani Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19836009"">19836009</a> (ADAMTS10 <a href=""https://pubmed.ncbi.nlm.nih.gov/ADAMTS17)"">ADAMTS17)</a>
 著者        Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N
 タイトル      Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
 雑誌        Am J Hum Genet 85:558-68 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.011"">10.1016/j.ajhg.2009.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12525539"">12525539</a> (FBN1)
 著者        Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V
 タイトル      In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
 雑誌        J Med Genet 40:34-6 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.1.34"">10.1136/jmg.40.1.34</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22539340"">22539340</a> (LTBP2)
 著者        Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E
 タイトル      LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
 雑誌        Hum Mutat 33:1182-7 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22105"">10.1002/humu.22105</a>"
H00674,"ヌクレオチド代謝障害による貧血
 下位グループ    アデニル酸キナーゼ欠損症
 ピリミジン-5'-ヌクレオチダーゼ欠損症",,,Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan.,血液疾患,,"AK1 [HSA:203] [KO:K00939]
 UMPH1 [HSA:51251] [KO:K24242]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D55.3
 OMIM: 612631 266120","PMID:1646049
 著者        Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR
 タイトル      Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
 雑誌        Blood 77:2774-84 (1991)
 PMID:11369620
 著者        Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC
 タイトル      Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
 雑誌        Blood 97:3327-32 (2001)
 DOI:10.1182/blood.V97.11.3327
 PMID:16611302
 著者        Zanella A, Bianchi P, Fermo E, Valentini G
 タイトル      Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
 雑誌        Br J Haematol 133:113-23 (2006)
 DOI:10.1111/j.1365-2141.2006.05992.x
 PMID:19291420
 著者        Jurecka A
 タイトル      Inborn errors of purine and pyrimidine metabolism.
 雑誌        J Inherit Metab Dis 32:247-63 (2009)
 DOI:10.1007/s10545-009-1094-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00674"">H00674</a>","ヌクレオチド代謝障害による貧血
 下位グループ    アデニル酸キナーゼ欠損症
 ピリミジン-5'-ヌクレオチダーゼ欠損症",Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan.,,"AK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203"">203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00939"">K00939</a>]
 UMPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51251"">51251</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24242"">K24242</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D55.3
 OMIM: <a href=""https://www.omim.org/entry/612631"">612631</a> <a href=""https://www.omim.org/entry/266120"">266120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1646049"">1646049</a>
 著者        Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR
 タイトル      Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
 雑誌        Blood 77:2774-84 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11369620"">11369620</a>
 著者        Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC
 タイトル      Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
 雑誌        Blood 97:3327-32 (2001)
 DOI:<a href=""https://doi.org/10.1182/blood.V97.11.3327"">10.1182/blood.V97.11.3327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16611302"">16611302</a>
 著者        Zanella A, Bianchi P, Fermo E, Valentini G
 タイトル      Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
 雑誌        Br J Haematol 133:113-23 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2006.05992.x"">10.1111/j.1365-2141.2006.05992.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19291420"">19291420</a>
 著者        Jurecka A
 タイトル      Inborn errors of purine and pyrimidine metabolism.
 雑誌        J Inherit Metab Dis 32:247-63 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10545-009-1094-z"">10.1007/s10545-009-1094-z</a>"
H00675,先端大腿骨頭異形成,,,"Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips.",先天奇形,,IHH [HSA:3549] [KO:K11989],,,,,,"ICD-11: LD24.8Y
 ICD-10: Q78.8
 MeSH: C564334
 OMIM: 607778","PMID:12632327
 著者        Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR
 タイトル      Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
 雑誌        Am J Hum Genet 72:1040-6 (2003)
 DOI:10.1086/374318
 PMID:12624140
 著者        Mortier GR, Kramer PP, Giedion A, Beemer FA
 タイトル      Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
 雑誌        J Med Genet 40:201-7 (2003)
 DOI:10.1136/jmg.40.3.201","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00675"">H00675</a>",先端大腿骨頭異形成,"Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips.",,"IHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3549"">3549</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11989"">K11989</a>]",,,,,,"ICD-11: LD24.8Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564334"">C564334</a>
 OMIM: <a href=""https://www.omim.org/entry/607778"">607778</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12632327"">12632327</a>
 著者        Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR
 タイトル      Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
 雑誌        Am J Hum Genet 72:1040-6 (2003)
 DOI:<a href=""https://doi.org/10.1086/374318"">10.1086/374318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12624140"">12624140</a>
 著者        Mortier GR, Kramer PP, Giedion A, Beemer FA
 タイトル      Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
 雑誌        J Med Genet 40:201-7 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.3.201"">10.1136/jmg.40.3.201</a>"
H00676,先天性原発性無水晶体症,,,"Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor.",先天奇形,,FOXE3 [HSA:2301] [KO:K09398],,,,,,"ICD-11: LA12.2
 ICD-10: Q12.3
 MeSH: C537786
 OMIM: 610256","PMID:19708017
 著者        Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J, Ragge NK
 タイトル      Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
 雑誌        Hum Mutat 30:1378-86 (2009)
 DOI:10.1002/humu.21079
 PMID:17344231
 著者        Medina-Martinez O, Jamrich M
 タイトル      Foxe view of lens development and disease.
 雑誌        Development 134:1455-63 (2007)
 DOI:10.1242/dev.000117
 PMID:16826526
 著者        Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B
 タイトル      Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
 雑誌        Am J Hum Genet 79:358-64 (2006)
 DOI:10.1086/505654","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00676"">H00676</a>",先天性原発性無水晶体症,"Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor.",,"FOXE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2301"">2301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]",,,,,,"ICD-11: LA12.2
 ICD-10: Q12.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537786"">C537786</a>
 OMIM: <a href=""https://www.omim.org/entry/610256"">610256</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19708017"">19708017</a>
 著者        Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J, Ragge NK
 タイトル      Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
 雑誌        Hum Mutat 30:1378-86 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21079"">10.1002/humu.21079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17344231"">17344231</a>
 著者        Medina-Martinez O, Jamrich M
 タイトル      Foxe view of lens development and disease.
 雑誌        Development 134:1455-63 (2007)
 DOI:<a href=""https://doi.org/10.1242/dev.000117"">10.1242/dev.000117</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826526"">16826526</a>
 著者        Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B
 タイトル      Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
 雑誌        Am J Hum Genet 79:358-64 (2006)
 DOI:<a href=""https://doi.org/10.1086/505654"">10.1086/505654</a>"
H00677,涙腺および唾液腺の形成不全,,,Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG.,先天奇形,,FGF10 [HSA:2255] [KO:K04358],,,,,"Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in H00642.","ICD-11: LA14.10
 ICD-10: Q10.4 Q38.4
 MeSH: C562407
 OMIM: 180920","PMID:17213838
 著者        Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N
 タイトル      FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
 雑誌        Eur J Hum Genet 15:379-82 (2007)
 DOI:10.1038/sj.ejhg.5201762
 PMID:15654336
 著者        Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N
 タイトル      Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
 雑誌        Nat Genet 37:125-7 (2005)
 DOI:10.1038/ng1507
 PMID:19102732
 著者        Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK
 タイトル      An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.
 雑誌        BMC Med Genet 9:114 (2008)
 DOI:10.1186/1471-2350-9-114","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00677"">H00677</a>",涙腺および唾液腺の形成不全,Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG.,,"FGF10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2255"">2255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]",,,,,"Lacrimo-auriculo-dento-digital syndrome (LADD), a closely related disorder, is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00642."">H00642.</a>","ICD-11: LA14.10
 ICD-10: Q10.4 Q38.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562407"">C562407</a>
 OMIM: <a href=""https://www.omim.org/entry/180920"">180920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17213838"">17213838</a>
 著者        Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N
 タイトル      FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
 雑誌        Eur J Hum Genet 15:379-82 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201762"">10.1038/sj.ejhg.5201762</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15654336"">15654336</a>
 著者        Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N
 タイトル      Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
 雑誌        Nat Genet 37:125-7 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1507"">10.1038/ng1507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19102732"">19102732</a>
 著者        Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK
 タイトル      An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.
 雑誌        BMC Med Genet 9:114 (2008)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-9-114"">10.1186/1471-2350-9-114</a>"
H00678,"軟骨無発生症 IA 型;
 Houston-Harris 型軟骨無発生症",,,Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.,先天奇形,,TRIP11 [HSA:9321] [KO:K23368],,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: C536015
 OMIM: 200600","PMID:20089978
 著者        Freeze HH
 タイトル      Achondrogenesis type 1A--from mouse to human.
 雑誌        N Engl J Med 362:266-7 (2010)
 DOI:10.1056/NEJMe0911455
 PMID:20089971 (gene, descrition)
 著者        Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR
 タイトル      Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
 雑誌        N Engl J Med 362:206-16 (2010)
 DOI:10.1056/NEJMoa0900158
 PMID:17638425
 著者        Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stoss H, Rauch A, Thiel CT
 タイトル      Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.
 雑誌        Pediatr Dev Pathol 10:328-34 (2007)
 DOI:10.2350/06-07-0134.1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00678"">H00678</a>","軟骨無発生症 IA 型;
 Houston-Harris 型軟骨無発生症",Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.,,"TRIP11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9321"">9321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23368"">K23368</a>]",,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536015"">C536015</a>
 OMIM: <a href=""https://www.omim.org/entry/200600"">200600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20089978"">20089978</a>
 著者        Freeze HH
 タイトル      Achondrogenesis type 1A--from mouse to human.
 雑誌        N Engl J Med 362:266-7 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMe0911455"">10.1056/NEJMe0911455</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20089971"">20089971</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/descrition)"">descrition)</a>
 著者        Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR
 タイトル      Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
 雑誌        N Engl J Med 362:206-16 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900158"">10.1056/NEJMoa0900158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17638425"">17638425</a>
 著者        Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stoss H, Rauch A, Thiel CT
 タイトル      Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.
 雑誌        Pediatr Dev Pathol 10:328-34 (2007)
 DOI:<a href=""https://doi.org/10.2350/06-07-0134.1"">10.2350/06-07-0134.1</a>"
H00679,"先天性大脳白質形成不全症;
 ペリツェウス・メルツバッヘル病",,,"Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1 encoding proteolipid protein lipophilin. Pelizaeus-Merzbacher-like disease (PMLD) is clinically similar to classical PMD but is not associated with PLP1 mutations. PMLD appears to be inherited in an autosomal recessive manner and mutations have been identified in GJC2, AIMP1, HSPD1 and so on.",先天性代謝異常症,,"(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271]
 (HLD2) GJC2 [HSA:57165] [KO:K07619]
 (HLD3) AIMP1 [HSA:9255] [KO:K15437]
 (HLD4) HSPD1 [HSA:3329] [KO:K04077]
 (HLD5) FAM126A [HSA:84668] [KO:K21844]
 (HLD6) TUBB4A [HSA:10382] [KO:K07375]
 (HLD7) POLR3A [HSA:11128] [KO:K03018]
 (HLD8) POLR3B [HSA:55703] [KO:K03021]
 (HLD9) RARS1 [HSA:5917] [KO:K01887]
 (HLD10) PYCR2 [HSA:29920] [KO:K00286]
 (HLD11) POLR1C [HSA:9533] [KO:K03027]
 (HLD12) VPS11 [HSA:55823] [KO:K20179]
 (HLD13) HIKESHI [HSA:51501] [KO:K23327]
 (HLD14) UFM1 [HSA:51569] [KO:K12162]
 (HLD15) EPRS1 [HSA:2058] [KO:K14163]
 (HLD16) TMEM106B [HSA:54664] [KO:K25048]
 (HLD17) AIMP2 [HSA:7965] [KO:K15438]
 (HLD18) DEGS1 [HSA:8560] [KO:K04712]
 (HLD19) TMEM63A [HSA:9725] [KO:K21989]
 (HLD20) CNP [HSA:1267] [KO:K01121]
 (HLD21) POLR3K [HSA:51728] [KO:K03019]
 (HLD22) CLDN11 [HSA:5010] [KO:K06087]
 (HLD23) RNF220 [HSA:55182] [KO:K25174]
 (HLD24) ATP11A [HSA:23250] [KO:K01530]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: D020371
 OMIM: 312080 608804 260600 612233 610532 612438 607694 614381 616140 616420 616494 616683 616881 617899 617951 617964 618006 618404 618688 619071 619310 619328 619688 619851","PMID:17115121
 著者        Garbern JY
 タイトル      Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
 雑誌        Cell Mol Life Sci 64:50-65 (2007)
 DOI:10.1007/s00018-006-6182-8
 PMID:2773936 (PLP1)
 著者        Gencic S, Abuelo D, Ambler M, Hudson LD
 タイトル      Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
 雑誌        Am J Hum Genet 45:435-42 (1989)
 PMID:21959080 (GJC2)
 著者        Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER
 タイトル      Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
 雑誌        Mol Genet Metab 104:637-43 (2011)
 DOI:10.1016/j.ymgme.2011.08.032
 PMID:21092922 (AIMP1)
 著者        Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS
 タイトル      Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
 雑誌        Am J Hum Genet 87:820-8 (2010)
 DOI:10.1016/j.ajhg.2010.10.016
 PMID:18571143 (HSPD1)
 著者        Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H
 タイトル      Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
 雑誌        Am J Hum Genet 83:30-42 (2008)
 DOI:10.1016/j.ajhg.2008.05.016
 PMID:16951682 (FAM126A)
 著者        Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C
 タイトル      Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
 雑誌        Nat Genet 38:1111-3 (2006)
 DOI:10.1038/ng1870
 PMID:26643067 (TUBB4A)
 著者        Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E
 タイトル      TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
 雑誌        Eur J Paediatr Neurol 20:323-30 (2016)
 DOI:10.1016/j.ejpn.2015.11.006
 PMID:21855841 (POLR3A)
 著者        Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B
 タイトル      Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
 雑誌        Am J Hum Genet 89:415-23 (2011)
 DOI:10.1016/j.ajhg.2011.07.014
 PMID:22036171 (POLR3B)
 著者        Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N
 タイトル      Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
 雑誌        Am J Hum Genet 89:644-51 (2011)
 DOI:10.1016/j.ajhg.2011.10.003
 PMID:24777941 (RARS1)
 著者        Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q
 タイトル      Mutations in RARS cause hypomyelination.
 雑誌        Ann Neurol 76:134-9 (2014)
 DOI:10.1002/ana.24167
 PMID:25865492 (PYCR2)
 著者        Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH
 タイトル      Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
 雑誌        Am J Hum Genet 96:709-19 (2015)
 DOI:10.1016/j.ajhg.2015.03.003
 PMID:26151409 (POLR1C)
 著者        Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallee-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Mate A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G
 タイトル      Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
 雑誌        Nat Commun 6:7623 (2015)
 DOI:10.1038/ncomms8623
 PMID:27120463 (VPS11)
 著者        Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L
 タイトル      A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
 雑誌        PLoS Genet 12:e1005848 (2016)
 DOI:10.1371/journal.pgen.1005848
 PMID:26545878 (HIKESHI)
 著者        Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gartner J, Imamoto N, Elpeleg O
 タイトル      Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
 雑誌        J Med Genet 53:132-7 (2016)
 DOI:10.1136/jmedgenet-2015-103232
 PMID:28931644 (UFM1)
 著者        Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojcakova D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS
 タイトル      UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
 雑誌        Neurology 89:1821-1828 (2017)
 DOI:10.1212/WNL.0000000000004578
 PMID:29576217 (EPRS1)
 著者        Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G
 タイトル      Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
 雑誌        Am J Hum Genet 102:676-684 (2018)
 DOI:10.1016/j.ajhg.2018.02.011
 PMID:29186371 (TMEM106B)
 著者        Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschutter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ, van der Knaap MS, Wolf NI
 タイトル      A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
 雑誌        Brain 140:3105-3111 (2017)
 DOI:10.1093/brain/awx314
 PMID:29215095 (AIMP2)
 著者        Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A
 タイトル      Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
 雑誌        J Hum Genet 63:19-25 (2018)
 DOI:10.1038/s10038-017-0363-1
 PMID:30620338 (DEGS1)
 著者        Karsai G, Kraft F, Haag N, Korenke GC, Hanisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schroder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I
 タイトル      DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
 雑誌        J Clin Invest 129:1229-1239 (2019)
 DOI:10.1172/JCI124159
 PMID:31587869 (TMEM63A)
 著者        Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI
 タイトル      Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
 雑誌        Am J Hum Genet 105:996-1004 (2019)
 DOI:10.1016/j.ajhg.2019.09.011
 PMID:32128616 (CNP)
 著者        Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS
 タイトル      CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
 雑誌        Hum Genet 139:615-622 (2020)
 DOI:10.1007/s00439-020-02144-4
 PMID:30584594 (POLR3K)
 著者        Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Berges M, Teichmann M, Boespflug-Tanguy O
 タイトル      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
 雑誌        Neurol Genet 4:e289 (2018)
 DOI:10.1212/NXG.0000000000000289
 PMID:33313762 (CLDN11)
 著者        Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krageloh-Mann I, Vill K
 タイトル      De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
 雑誌        Brain 144:411-419 (2021)
 DOI:10.1093/brain/awaa410
 PMID:33964137 (RNF220)
 著者        Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
 タイトル      Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
 雑誌        Brain 144:3020-3035 (2021)
 DOI:10.1093/brain/awab185
 PMID:34403372 (ATP11A)
 著者        Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S
 タイトル      A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
 雑誌        J Clin Invest 131:148005 (2021)
 DOI:10.1172/JCI148005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00679"">H00679</a>","先天性大脳白質形成不全症;
 ペリツェウス・メルツバッヘル病","Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1 encoding proteolipid protein lipophilin. Pelizaeus-Merzbacher-like disease (PMLD) is clinically similar to classical PMD but is not associated with PLP1 mutations. PMLD appears to be inherited in an autosomal recessive manner and mutations have been identified in GJC2, AIMP1, HSPD1 and so on.",,"(HLD1/PMD) PLP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5354"">5354</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17271"">K17271</a>]
 (HLD2) GJC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57165"">57165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07619"">K07619</a>]
 (HLD3) AIMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9255"">9255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15437"">K15437</a>]
 (HLD4) HSPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3329"">3329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04077"">K04077</a>]
 (HLD5) FAM126A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84668"">84668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21844"">K21844</a>]
 (HLD6) TUBB4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10382"">10382</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (HLD7) POLR3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11128"">11128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03018"">K03018</a>]
 (HLD8) POLR3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55703"">55703</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03021"">K03021</a>]
 (HLD9) RARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5917"">5917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01887"">K01887</a>]
 (HLD10) PYCR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29920"">29920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00286"">K00286</a>]
 (HLD11) POLR1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9533"">9533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03027"">K03027</a>]
 (HLD12) VPS11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55823"">55823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20179"">K20179</a>]
 (HLD13) HIKESHI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51501"">51501</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23327"">K23327</a>]
 (HLD14) UFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51569"">51569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12162"">K12162</a>]
 (HLD15) EPRS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2058"">2058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14163"">K14163</a>]
 (HLD16) TMEM106B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54664"">54664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25048"">K25048</a>]
 (HLD17) AIMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7965"">7965</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15438"">K15438</a>]
 (HLD18) DEGS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8560"">8560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04712"">K04712</a>]
 (HLD19) TMEM63A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9725"">9725</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21989"">K21989</a>]
 (HLD20) CNP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1267"">1267</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01121"">K01121</a>]
 (HLD21) POLR3K [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51728"">51728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03019"">K03019</a>]
 (HLD22) CLDN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5010"">5010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 (HLD23) RNF220 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55182"">55182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25174"">K25174</a>]
 (HLD24) ATP11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23250"">23250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01530"">K01530</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020371"">D020371</a>
 OMIM: <a href=""https://www.omim.org/entry/312080"">312080</a> <a href=""https://www.omim.org/entry/608804"">608804</a> <a href=""https://www.omim.org/entry/260600"">260600</a> <a href=""https://www.omim.org/entry/612233"">612233</a> <a href=""https://www.omim.org/entry/610532"">610532</a> <a href=""https://www.omim.org/entry/612438"">612438</a> <a href=""https://www.omim.org/entry/607694"">607694</a> <a href=""https://www.omim.org/entry/614381"">614381</a> <a href=""https://www.omim.org/entry/616140"">616140</a> <a href=""https://www.omim.org/entry/616420"">616420</a> <a href=""https://www.omim.org/entry/616494"">616494</a> <a href=""https://www.omim.org/entry/616683"">616683</a> <a href=""https://www.omim.org/entry/616881"">616881</a> <a href=""https://www.omim.org/entry/617899"">617899</a> <a href=""https://www.omim.org/entry/617951"">617951</a> <a href=""https://www.omim.org/entry/617964"">617964</a> <a href=""https://www.omim.org/entry/618006"">618006</a> <a href=""https://www.omim.org/entry/618404"">618404</a> <a href=""https://www.omim.org/entry/618688"">618688</a> <a href=""https://www.omim.org/entry/619071"">619071</a> <a href=""https://www.omim.org/entry/619310"">619310</a> <a href=""https://www.omim.org/entry/619328"">619328</a> <a href=""https://www.omim.org/entry/619688"">619688</a> <a href=""https://www.omim.org/entry/619851"">619851</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17115121"">17115121</a>
 著者        Garbern JY
 タイトル      Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
 雑誌        Cell Mol Life Sci 64:50-65 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00018-006-6182-8"">10.1007/s00018-006-6182-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2773936"">2773936</a> (PLP1)
 著者        Gencic S, Abuelo D, Ambler M, Hudson LD
 タイトル      Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
 雑誌        Am J Hum Genet 45:435-42 (1989)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21959080"">21959080</a> (GJC2)
 著者        Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER
 タイトル      Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
 雑誌        Mol Genet Metab 104:637-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.08.032"">10.1016/j.ymgme.2011.08.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21092922"">21092922</a> (AIMP1)
 著者        Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS
 タイトル      Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
 雑誌        Am J Hum Genet 87:820-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.016"">10.1016/j.ajhg.2010.10.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18571143"">18571143</a> (HSPD1)
 著者        Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H
 タイトル      Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
 雑誌        Am J Hum Genet 83:30-42 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.05.016"">10.1016/j.ajhg.2008.05.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16951682"">16951682</a> (FAM126A)
 著者        Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C
 タイトル      Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
 雑誌        Nat Genet 38:1111-3 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1870"">10.1038/ng1870</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26643067"">26643067</a> (TUBB4A)
 著者        Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E
 タイトル      TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
 雑誌        Eur J Paediatr Neurol 20:323-30 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2015.11.006"">10.1016/j.ejpn.2015.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21855841"">21855841</a> (POLR3A)
 著者        Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B
 タイトル      Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
 雑誌        Am J Hum Genet 89:415-23 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.014"">10.1016/j.ajhg.2011.07.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22036171"">22036171</a> (POLR3B)
 著者        Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N
 タイトル      Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
 雑誌        Am J Hum Genet 89:644-51 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.003"">10.1016/j.ajhg.2011.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24777941"">24777941</a> (RARS1)
 著者        Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q
 タイトル      Mutations in RARS cause hypomyelination.
 雑誌        Ann Neurol 76:134-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/ana.24167"">10.1002/ana.24167</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25865492"">25865492</a> (PYCR2)
 著者        Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH
 タイトル      Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
 雑誌        Am J Hum Genet 96:709-19 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.03.003"">10.1016/j.ajhg.2015.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26151409"">26151409</a> (POLR1C)
 著者        Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallee-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Mate A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G
 タイトル      Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
 雑誌        Nat Commun 6:7623 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms8623"">10.1038/ncomms8623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27120463"">27120463</a> (VPS11)
 著者        Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L
 タイトル      A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
 雑誌        PLoS Genet 12:e1005848 (2016)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005848"">10.1371/journal.pgen.1005848</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26545878"">26545878</a> (HIKESHI)
 著者        Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gartner J, Imamoto N, Elpeleg O
 タイトル      Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
 雑誌        J Med Genet 53:132-7 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103232"">10.1136/jmedgenet-2015-103232</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28931644"">28931644</a> (UFM1)
 著者        Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojcakova D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS
 タイトル      UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
 雑誌        Neurology 89:1821-1828 (2017)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000004578"">10.1212/WNL.0000000000004578</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29576217"">29576217</a> (EPRS1)
 著者        Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G
 タイトル      Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
 雑誌        Am J Hum Genet 102:676-684 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.02.011"">10.1016/j.ajhg.2018.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29186371"">29186371</a> (TMEM106B)
 著者        Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschutter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ, van der Knaap MS, Wolf NI
 タイトル      A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
 雑誌        Brain 140:3105-3111 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx314"">10.1093/brain/awx314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29215095"">29215095</a> (AIMP2)
 著者        Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A
 タイトル      Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
 雑誌        J Hum Genet 63:19-25 (2018)
 DOI:<a href=""https://doi.org/10.1038/s10038-017-0363-1"">10.1038/s10038-017-0363-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30620338"">30620338</a> (DEGS1)
 著者        Karsai G, Kraft F, Haag N, Korenke GC, Hanisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schroder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I
 タイトル      DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
 雑誌        J Clin Invest 129:1229-1239 (2019)
 DOI:<a href=""https://doi.org/10.1172/JCI124159"">10.1172/JCI124159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31587869"">31587869</a> (TMEM63A)
 著者        Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI
 タイトル      Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
 雑誌        Am J Hum Genet 105:996-1004 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.011"">10.1016/j.ajhg.2019.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32128616"">32128616</a> (CNP)
 著者        Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS
 タイトル      CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
 雑誌        Hum Genet 139:615-622 (2020)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02144-4"">10.1007/s00439-020-02144-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30584594"">30584594</a> (POLR3K)
 著者        Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Berges M, Teichmann M, Boespflug-Tanguy O
 タイトル      Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
 雑誌        Neurol Genet 4:e289 (2018)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000289"">10.1212/NXG.0000000000000289</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33313762"">33313762</a> (CLDN11)
 著者        Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krageloh-Mann I, Vill K
 タイトル      De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
 雑誌        Brain 144:411-419 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa410"">10.1093/brain/awaa410</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33964137"">33964137</a> (RNF220)
 著者        Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
 タイトル      Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
 雑誌        Brain 144:3020-3035 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awab185"">10.1093/brain/awab185</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34403372"">34403372</a> (ATP11A)
 著者        Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S
 タイトル      A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
 雑誌        J Clin Invest 131:148005 (2021)
 DOI:<a href=""https://doi.org/10.1172/JCI148005"">10.1172/JCI148005</a>"
H00680,原発性萌出不全,,,Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE.,,,PTHR1 [HSA:5745] [KO:K04585],,,,,,"ICD-11: DA07.6
 MeSH: C565114
 OMIM: 125350","PMID:17041084
 著者        Ahmad S, Bister D, Cobourne MT
 タイトル      The clinical features and aetiological basis of primary eruption failure.
 雑誌        Eur J Orthod 28:535-40 (2006)
 DOI:10.1093/ejo/cjl033
 PMID:19419448
 著者        Proffit WR, Frazier-Bowers SA
 タイトル      Mechanism and control of tooth eruption: overview and clinical implications.
 雑誌        Orthod Craniofac Res 12:59-66 (2009)
 DOI:10.1111/j.1601-6343.2009.01438.x
 PMID:19061984
 著者        Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH
 タイトル      PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
 雑誌        Am J Hum Genet 83:781-6 (2008)
 DOI:10.1016/j.ajhg.2008.11.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00680"">H00680</a>",原発性萌出不全,Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE.,,"PTHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5745"">5745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04585"">K04585</a>]",,,,,,"ICD-11: DA07.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565114"">C565114</a>
 OMIM: <a href=""https://www.omim.org/entry/125350"">125350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17041084"">17041084</a>
 著者        Ahmad S, Bister D, Cobourne MT
 タイトル      The clinical features and aetiological basis of primary eruption failure.
 雑誌        Eur J Orthod 28:535-40 (2006)
 DOI:<a href=""https://doi.org/10.1093/ejo/cjl033"">10.1093/ejo/cjl033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19419448"">19419448</a>
 著者        Proffit WR, Frazier-Bowers SA
 タイトル      Mechanism and control of tooth eruption: overview and clinical implications.
 雑誌        Orthod Craniofac Res 12:59-66 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1601-6343.2009.01438.x"">10.1111/j.1601-6343.2009.01438.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19061984"">19061984</a>
 著者        Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH
 タイトル      PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
 雑誌        Am J Hum Genet 83:781-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.11.006"">10.1016/j.ajhg.2008.11.006</a>"
H00681,化膿性汗腺炎,,,"Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin abscesses, fistulating sinuses, and disfiguring scars.",皮膚疾患,,"PSENEN [HSA:55851] [KO:K06170]
 PSEN1 [HSA:5663] [KO:K04505]
 NCSTN [HSA:23385] [KO:K06171]",,"Smoking
 Staphylococci infection
 Androgen levels",,アダリムマブ [DR:D02597],,"ICD-11: ED92.0
 ICD-10: L73.2
 MeSH: D017497
 OMIM: 142690 613736 613737","PMID:21192260 (description, env_factor, drug)
 著者        Yazdanyar S, Jemec GB
 タイトル      Hidradenitis suppurativa: a review of cause and treatment.
 雑誌        Curr Opin Infect Dis 24:118-23 (2011)
 DOI:10.1097/QCO.0b013e3283428d07
 PMID:17958790 (drug)
 著者        Lam J, Krakowski AC, Friedlander SF
 タイトル      Hidradenitis suppurativa (acne inversa): management of a recalcitrant disease.
 雑誌        Pediatr Dermatol 24:465-73 (2007)
 DOI:10.1111/j.1525-1470.2007.00544.x
 PMID:15264991 (drug)
 著者        Jemec GB
 タイトル      Medical treatment of hidradenitis suppurativa.
 雑誌        Expert Opin Pharmacother 5:1767-70 (2004)
 DOI:10.1517/14656566.5.8.1767
 PMID:21495993
 著者        Li CR, Jiang MJ, Shen DB, Xu HX, Wang HS, Yao X, Zhang Y, Zhou WQ, Wang B
 タイトル      Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.
 雑誌        Br J Dermatol 165:415-8 (2011)
 DOI:10.1111/j.1365-2133.2011.10372.x
 PMID:20929727
 著者        Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
 タイトル      Gamma-secretase gene mutations in familial acne inversa.
 雑誌        Science 330:1065 (2010)
 DOI:10.1126/science.1196284","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00681"">H00681</a>",化膿性汗腺炎,"Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin abscesses, fistulating sinuses, and disfiguring scars.",,"PSENEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55851"">55851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06170"">K06170</a>]
 PSEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5663"">5663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04505"">K04505</a>]
 NCSTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23385"">23385</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06171"">K06171</a>]",,"Smoking
 Staphylococci infection
 Androgen levels",,"アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]",,"ICD-11: ED92.0
 ICD-10: L73.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017497"">D017497</a>
 OMIM: <a href=""https://www.omim.org/entry/142690"">142690</a> <a href=""https://www.omim.org/entry/613736"">613736</a> <a href=""https://www.omim.org/entry/613737"">613737</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21192260"">21192260</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Yazdanyar S, Jemec GB
 タイトル      Hidradenitis suppurativa: a review of cause and treatment.
 雑誌        Curr Opin Infect Dis 24:118-23 (2011)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3283428d07"">10.1097/QCO.0b013e3283428d07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17958790"">17958790</a> (drug)
 著者        Lam J, Krakowski AC, Friedlander SF
 タイトル      Hidradenitis suppurativa (acne inversa): management of a recalcitrant disease.
 雑誌        Pediatr Dermatol 24:465-73 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2007.00544.x"">10.1111/j.1525-1470.2007.00544.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15264991"">15264991</a> (drug)
 著者        Jemec GB
 タイトル      Medical treatment of hidradenitis suppurativa.
 雑誌        Expert Opin Pharmacother 5:1767-70 (2004)
 DOI:<a href=""https://doi.org/10.1517/14656566.5.8.1767"">10.1517/14656566.5.8.1767</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21495993"">21495993</a>
 著者        Li CR, Jiang MJ, Shen DB, Xu HX, Wang HS, Yao X, Zhang Y, Zhou WQ, Wang B
 タイトル      Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.
 雑誌        Br J Dermatol 165:415-8 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2011.10372.x"">10.1111/j.1365-2133.2011.10372.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20929727"">20929727</a>
 著者        Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
 タイトル      Gamma-secretase gene mutations in familial acne inversa.
 雑誌        Science 330:1065 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1196284"">10.1126/science.1196284</a>"
H00682,Woodhouse-Sakati 症候群,,,"Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.",先天奇形,,C2orf37 [HSA:80067] [KO:K23331],,,,,,"ICD-11: 5A61.Y
 ICD-10: Q87.8
 MeSH: C536742
 OMIM: 241080","PMID:17710875
 著者        Medica I, Sepcic J, Peterlin B
 タイトル      Woodhouse-Sakati syndrome: case report and symptoms review.
 雑誌        Genet Couns 18:227-31 (2007)
 PMID:19026396
 著者        Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS
 タイトル      Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
 雑誌        Am J Hum Genet 83:684-91 (2008)
 DOI:10.1016/j.ajhg.2008.10.018
 PMID:20507343
 著者        Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS
 タイトル      C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
 雑誌        Clin Genet 78:585-90 (2010)
 DOI:10.1111/j.1399-0004.2010.01441.x
 PMID:21964978
 著者        Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A
 タイトル      Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.
 雑誌        Am J Med Genet A 155:2647-53 (2011)
 DOI:10.1002/ajmg.a.34219","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00682"">H00682</a>",Woodhouse-Sakati 症候群,"Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.",,"C2orf37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80067"">80067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23331"">K23331</a>]",,,,,,"ICD-11: 5A61.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536742"">C536742</a>
 OMIM: <a href=""https://www.omim.org/entry/241080"">241080</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17710875"">17710875</a>
 著者        Medica I, Sepcic J, Peterlin B
 タイトル      Woodhouse-Sakati syndrome: case report and symptoms review.
 雑誌        Genet Couns 18:227-31 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19026396"">19026396</a>
 著者        Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS
 タイトル      Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
 雑誌        Am J Hum Genet 83:684-91 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.018"">10.1016/j.ajhg.2008.10.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507343"">20507343</a>
 著者        Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS
 タイトル      C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
 雑誌        Clin Genet 78:585-90 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01441.x"">10.1111/j.1399-0004.2010.01441.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21964978"">21964978</a>
 著者        Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A
 タイトル      Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.
 雑誌        Am J Med Genet A 155:2647-53 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34219"">10.1002/ajmg.a.34219</a>"
H00683,"先天性無爪
 上位グループ    非症候性先天性爪疾患 [DS:H01307]",,,"Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified.",先天奇形,,RSPO4 [HSA:343637] [KO:K23099],,,,,,"ICD-11: EC22.0
 ICD-10: Q84.3
 MeSH: C536377
 OMIM: 206800","PMID:14126263
 著者        LITTMAN A, LEVIN S
 タイトル      ANONYCHIA AS A RECESSIVE AUTOSOMAL TRAIT IN MAN.
 雑誌        J Invest Dermatol 42:177-8 (1964)
 DOI:10.1038/jid.1964.37
 PMID:12121551
 著者        Al Hawsawi K, Al Aboud K, Alfadley A, Al Aboud D
 タイトル      Anonychia congenita totalis: a case report and review of the literature.
 雑誌        Int J Dermatol 41:397-9 (2002)
 DOI:10.1046/j.1365-4362.2002.01535_1.x
 PMID:17186469
 著者        Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nurnberg G, Schild HH, Nurnberg P, Reis A, Frank J, Zerres K
 タイトル      Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
 雑誌        Am J Hum Genet 79:1105-9 (2006)
 DOI:10.1086/509789","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00683"">H00683</a>","先天性無爪
 上位グループ    非症候性先天性爪疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01307"">H01307</a>]","Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified.",,"RSPO4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:343637"">343637</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23099"">K23099</a>]",,,,,,"ICD-11: EC22.0
 ICD-10: Q84.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536377"">C536377</a>
 OMIM: <a href=""https://www.omim.org/entry/206800"">206800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14126263"">14126263</a>
 著者        LITTMAN A, LEVIN S
 タイトル      ANONYCHIA AS A RECESSIVE AUTOSOMAL TRAIT IN MAN.
 雑誌        J Invest Dermatol 42:177-8 (1964)
 DOI:<a href=""https://doi.org/10.1038/jid.1964.37"">10.1038/jid.1964.37</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12121551"">12121551</a>
 著者        Al Hawsawi K, Al Aboud K, Alfadley A, Al Aboud D
 タイトル      Anonychia congenita totalis: a case report and review of the literature.
 雑誌        Int J Dermatol 41:397-9 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1365-4362.2002.01535_1.x"">10.1046/j.1365-4362.2002.01535_1.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17186469"">17186469</a>
 著者        Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nurnberg G, Schild HH, Nurnberg P, Reis A, Frank J, Zerres K
 タイトル      Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
 雑誌        Am J Hum Genet 79:1105-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/509789"">10.1086/509789</a>"
H00684,"先天性爪甲硬厚症
 下位グループ    Jadassohn-Lewandowsky 症候群
 Jackson-Lawler syndrome 症候群",,,"Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17.",先天奇形,,"(PC1) KRT16 [HSA:3868] [KO:K07604]
 (PC2) KRT17 [HSA:3872] [KO:K07604]
 (PC3) KRT6A [HSA:3853] [KO:K07605]
 (PC4) KRT6B [HSA:3854] [KO:K07605]",,,,,,"ICD-11: LD27.Y
 ICD-10: Q84.5
 MeSH: D053549
 OMIM: 167200 167210 615726 615728","PMID:21890491
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:10.1093/hmg/ddr379
 PMID:21326300
 著者        Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ
 タイトル      A large mutational study in pachyonychia congenita.
 雑誌        J Invest Dermatol 131:1018-24 (2011)
 DOI:10.1038/jid.2011.20
 PMID:7545493
 著者        Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ
 タイトル      Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
 雑誌        Nat Genet 10:363-5 (1995)
 DOI:10.1038/ng0795-363
 PMID:7539673
 著者        McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al.
 タイトル      Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
 雑誌        Nat Genet 9:273-8 (1995)
 DOI:10.1038/ng0395-273
 PMID:9618173
 著者        Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH
 タイトル      A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
 雑誌        Hum Mol Genet 7:1143-8 (1998)
 DOI:10.1093/hmg/7.7.1143","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00684"">H00684</a>","先天性爪甲硬厚症
 下位グループ    Jadassohn-Lewandowsky 症候群
 Jackson-Lawler syndrome 症候群","Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17.",,"(PC1) KRT16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3868"">3868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 (PC2) KRT17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3872"">3872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 (PC3) KRT6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3853"">3853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (PC4) KRT6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3854"">3854</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: Q84.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053549"">D053549</a>
 OMIM: <a href=""https://www.omim.org/entry/167200"">167200</a> <a href=""https://www.omim.org/entry/167210"">167210</a> <a href=""https://www.omim.org/entry/615726"">615726</a> <a href=""https://www.omim.org/entry/615728"">615728</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21890491"">21890491</a>
 著者        McLean WH, Moore CB
 タイトル      Keratin disorders: from gene to therapy.
 雑誌        Hum Mol Genet 20:R189-97 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr379"">10.1093/hmg/ddr379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21326300"">21326300</a>
 著者        Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ
 タイトル      A large mutational study in pachyonychia congenita.
 雑誌        J Invest Dermatol 131:1018-24 (2011)
 DOI:<a href=""https://doi.org/10.1038/jid.2011.20"">10.1038/jid.2011.20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7545493"">7545493</a>
 著者        Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ
 タイトル      Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
 雑誌        Nat Genet 10:363-5 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0795-363"">10.1038/ng0795-363</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7539673"">7539673</a>
 著者        McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al.
 タイトル      Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
 雑誌        Nat Genet 9:273-8 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0395-273"">10.1038/ng0395-273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9618173"">9618173</a>
 著者        Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH
 タイトル      A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
 雑誌        Hum Mol Genet 7:1143-8 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.7.1143"">10.1093/hmg/7.7.1143</a>"
H00685,BNAR 症候群,,,"BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.",先天奇形,,FREM1 [HSA:158326] [KO:K23380],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535441
 OMIM: 608980","PMID:19732862
 著者        Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS
 タイトル      FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
 雑誌        Am J Hum Genet 85:414-8 (2009)
 DOI:10.1016/j.ajhg.2009.08.010
 PMID:11822703
 著者        Al-Gazali LI, Bakir M, Hamud OA, Gerami S
 タイトル      An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.
 雑誌        Clin Dysmorphol 11:33-8 (2002)
 DOI:10.1097/00019605-200201000-00007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00685"">H00685</a>",BNAR 症候群,"BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.",,"FREM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:158326"">158326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23380"">K23380</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535441"">C535441</a>
 OMIM: <a href=""https://www.omim.org/entry/608980"">608980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19732862"">19732862</a>
 著者        Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS
 タイトル      FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
 雑誌        Am J Hum Genet 85:414-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.08.010"">10.1016/j.ajhg.2009.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11822703"">11822703</a>
 著者        Al-Gazali LI, Bakir M, Hamud OA, Gerami S
 タイトル      An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.
 雑誌        Clin Dysmorphol 11:33-8 (2002)
 DOI:<a href=""https://doi.org/10.1097/00019605-200201000-00007"">10.1097/00019605-200201000-00007</a>"
H00686,MOTA 症候群,,,"Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner.",先天奇形,,FREM1 [HSA:158326] [KO:K23380],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536022
 OMIM: 248450","PMID:17352387
 著者        Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE
 タイトル      Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
 雑誌        Am J Med Genet A 143A:853-7 (2007)
 DOI:10.1002/ajmg.a.31446
 PMID:21507892
 著者        Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
 タイトル      Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
 雑誌        J Med Genet 48:375-82 (2011)
 DOI:10.1136/jmg.2011.089631
 PMID:20301721
 著者        Li C, Slavotinek A, Chudley AE
 タイトル      Manitoba Oculotrichoanal Syndrome
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00686"">H00686</a>",MOTA 症候群,"Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner.",,"FREM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:158326"">158326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23380"">K23380</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536022"">C536022</a>
 OMIM: <a href=""https://www.omim.org/entry/248450"">248450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17352387"">17352387</a>
 著者        Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE
 タイトル      Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
 雑誌        Am J Med Genet A 143A:853-7 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31446"">10.1002/ajmg.a.31446</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21507892"">21507892</a>
 著者        Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
 タイトル      Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
 雑誌        J Med Genet 48:375-82 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2011.089631"">10.1136/jmg.2011.089631</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301721"">20301721</a>
 著者        Li C, Slavotinek A, Chudley AE
 タイトル      Manitoba Oculotrichoanal Syndrome
 雑誌        GeneReviews (1993)"
H00687,フレイザー症候群,,,"Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.",先天奇形,,"FRAS1 [HSA:80144] [KO:K23379]
 GRIP1 [HSA:23426] [KO:K20251]
 FREM2 [HSA:341640] [KO:K23380]",,,,,,"ICD-11: LD2H.0
 ICD-10: Q87.0
 MeSH: D058497
 OMIM: 219000","PMID:12205104
 著者        Slavotinek AM, Tifft CJ
 タイトル      Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
 雑誌        J Med Genet 39:623-33 (2002)
 DOI:10.1136/jmg.39.9.623
 PMID:11105430
 著者        Kabra M, Gulati S, Ghosh M, Menon PS
 タイトル      Fraser-cryptophthalmos syndrome.
 雑誌        Indian J Pediatr 67:775-8 (2000)
 DOI:10.1007/BF02723939
 PMID:3099574
 著者        Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC
 タイトル      Isolated and syndromic cryptophthalmos.
 雑誌        Am J Med Genet 25:85-98 (1986)
 DOI:10.1002/ajmg.1320250111
 PMID:18661360
 著者        Petrou P, Makrygiannis AK, Chalepakis G
 タイトル      The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
 雑誌        Connect Tissue Res 49:277-82 (2008)
 DOI:10.1080/03008200802148025
 PMID:22510445
 著者        Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM
 タイトル      Mutations in GRIP1 cause Fraser syndrome.
 雑誌        J Med Genet 49:303-6 (2012)
 DOI:10.1136/jmedgenet-2011-100590","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00687"">H00687</a>",フレイザー症候群,"Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.",,"FRAS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80144"">80144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23379"">K23379</a>]
 GRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23426"">23426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20251"">K20251</a>]
 FREM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:341640"">341640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23380"">K23380</a>]",,,,,,"ICD-11: LD2H.0
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058497"">D058497</a>
 OMIM: <a href=""https://www.omim.org/entry/219000"">219000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12205104"">12205104</a>
 著者        Slavotinek AM, Tifft CJ
 タイトル      Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
 雑誌        J Med Genet 39:623-33 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.9.623"">10.1136/jmg.39.9.623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11105430"">11105430</a>
 著者        Kabra M, Gulati S, Ghosh M, Menon PS
 タイトル      Fraser-cryptophthalmos syndrome.
 雑誌        Indian J Pediatr 67:775-8 (2000)
 DOI:<a href=""https://doi.org/10.1007/BF02723939"">10.1007/BF02723939</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3099574"">3099574</a>
 著者        Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC
 タイトル      Isolated and syndromic cryptophthalmos.
 雑誌        Am J Med Genet 25:85-98 (1986)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320250111"">10.1002/ajmg.1320250111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18661360"">18661360</a>
 著者        Petrou P, Makrygiannis AK, Chalepakis G
 タイトル      The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
 雑誌        Connect Tissue Res 49:277-82 (2008)
 DOI:<a href=""https://doi.org/10.1080/03008200802148025"">10.1080/03008200802148025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22510445"">22510445</a>
 著者        Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM
 タイトル      Mutations in GRIP1 cause Fraser syndrome.
 雑誌        J Med Genet 49:303-6 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100590"">10.1136/jmedgenet-2011-100590</a>"
H00688,家族性睡眠相前進症候群,,,"Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene.",神経系疾患,,"(FASPS1) PER2 [HSA:8864] [KO:K02633]
 (FASPS2) CSNK1D [HSA:1453] [KO:K08959]
 (FASPS3) PER3 [HSA:8863] [KO:K21945]",,,,,,"ICD-11: 7A61
 ICD-10: G47
 MeSH: C565789
 OMIM: 604348 615224 616882","PMID:21929966
 著者        Barion A
 タイトル      Circadian rhythm sleep disorders.
 雑誌        Dis Mon 57:423-37 (2011)
 DOI:10.1016/j.disamonth.2011.06.003
 PMID:18845459
 著者        Bjorvatn B, Pallesen S
 タイトル      A practical approach to circadian rhythm sleep disorders.
 雑誌        Sleep Med Rev 13:47-60 (2009)
 DOI:10.1016/j.smrv.2008.04.009
 PMID:10470086
 著者        Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ
 タイトル      Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans.
 雑誌        Nat Med 5:1062-5 (1999)
 DOI:10.1038/12502
 PMID:11232563
 著者        Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH
 タイトル      An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
 雑誌        Science 291:1040-3 (2001)
 DOI:10.1126/science.1057499
 PMID:23636092
 著者        Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptacek LJ
 タイトル      Casein kinase idelta mutations in familial migraine and advanced sleep phase.
 雑誌        Sci Transl Med 5:183ra56, 1-11 (2013)
 DOI:10.1126/scitranslmed.3005784
 PMID:26903630
 著者        Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptacek LJ, Fu YH
 タイトル      A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
 雑誌        Proc Natl Acad Sci U S A 113:E1536-44 (2016)
 DOI:10.1073/pnas.1600039113","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00688"">H00688</a>",家族性睡眠相前進症候群,"Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene.",,"(FASPS1) PER2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8864"">8864</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02633"">K02633</a>]
 (FASPS2) CSNK1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1453"">1453</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08959"">K08959</a>]
 (FASPS3) PER3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8863"">8863</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21945"">K21945</a>]",,,,,,"ICD-11: 7A61
 ICD-10: G47
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565789"">C565789</a>
 OMIM: <a href=""https://www.omim.org/entry/604348"">604348</a> <a href=""https://www.omim.org/entry/615224"">615224</a> <a href=""https://www.omim.org/entry/616882"">616882</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929966"">21929966</a>
 著者        Barion A
 タイトル      Circadian rhythm sleep disorders.
 雑誌        Dis Mon 57:423-37 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2011.06.003"">10.1016/j.disamonth.2011.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18845459"">18845459</a>
 著者        Bjorvatn B, Pallesen S
 タイトル      A practical approach to circadian rhythm sleep disorders.
 雑誌        Sleep Med Rev 13:47-60 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.smrv.2008.04.009"">10.1016/j.smrv.2008.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10470086"">10470086</a>
 著者        Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ
 タイトル      Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans.
 雑誌        Nat Med 5:1062-5 (1999)
 DOI:<a href=""https://doi.org/10.1038/12502"">10.1038/12502</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11232563"">11232563</a>
 著者        Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH
 タイトル      An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
 雑誌        Science 291:1040-3 (2001)
 DOI:<a href=""https://doi.org/10.1126/science.1057499"">10.1126/science.1057499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23636092"">23636092</a>
 著者        Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptacek LJ
 タイトル      Casein kinase idelta mutations in familial migraine and advanced sleep phase.
 雑誌        Sci Transl Med 5:183ra56, 1-11 (2013)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.3005784"">10.1126/scitranslmed.3005784</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26903630"">26903630</a>
 著者        Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptacek LJ, Fu YH
 タイトル      A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
 雑誌        Proc Natl Acad Sci U S A 113:E1536-44 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1600039113"">10.1073/pnas.1600039113</a>"
H00689,睡眠相後退症候群,,,"Delayed sleep phase syndrome (DSPS) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified in patients with delayed sleep phase disorder.",神経系疾患,,"AANAT (polymorphism) [HSA:15] [KO:K00669]
 CRY1 [HSA:1407] [KO:K02295]",,,,,,"ICD-11: 7A60
 ICD-10: G47.2
 MeSH: D020178
 OMIM: 614163","PMID:21929966
 著者        Barion A
 タイトル      Circadian rhythm sleep disorders.
 雑誌        Dis Mon 57:423-37 (2011)
 DOI:10.1016/j.disamonth.2011.06.003
 PMID:18845459
 著者        Bjorvatn B, Pallesen S
 タイトル      A practical approach to circadian rhythm sleep disorders.
 雑誌        Sleep Med Rev 13:47-60 (2009)
 DOI:10.1016/j.smrv.2008.04.009
 PMID:12736803
 著者        Hohjoh H, Takasu M, Shishikura K, Takahashi Y, Honda Y, Tokunaga K
 タイトル      Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.
 雑誌        Neurogenetics 4:151-3 (2003)
 DOI:10.1007/s10048-002-0141-9
 PMID:28388406
 著者        Patke A, Murphy PJ, Onat OE, Krieger AC, Ozcelik T, Campbell SS, Young MW
 タイトル      Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.
 雑誌        Cell 169:203-215.e13 (2017)
 DOI:10.1016/j.cell.2017.03.027","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00689"">H00689</a>",睡眠相後退症候群,"Delayed sleep phase syndrome (DSPS) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified in patients with delayed sleep phase disorder.",,"AANAT (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:15"">15</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00669"">K00669</a>]
 CRY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1407"">1407</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02295"">K02295</a>]",,,,,,"ICD-11: 7A60
 ICD-10: G47.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020178"">D020178</a>
 OMIM: <a href=""https://www.omim.org/entry/614163"">614163</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929966"">21929966</a>
 著者        Barion A
 タイトル      Circadian rhythm sleep disorders.
 雑誌        Dis Mon 57:423-37 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2011.06.003"">10.1016/j.disamonth.2011.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18845459"">18845459</a>
 著者        Bjorvatn B, Pallesen S
 タイトル      A practical approach to circadian rhythm sleep disorders.
 雑誌        Sleep Med Rev 13:47-60 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.smrv.2008.04.009"">10.1016/j.smrv.2008.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12736803"">12736803</a>
 著者        Hohjoh H, Takasu M, Shishikura K, Takahashi Y, Honda Y, Tokunaga K
 タイトル      Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.
 雑誌        Neurogenetics 4:151-3 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10048-002-0141-9"">10.1007/s10048-002-0141-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28388406"">28388406</a>
 著者        Patke A, Murphy PJ, Onat OE, Krieger AC, Ozcelik T, Campbell SS, Young MW
 タイトル      Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.
 雑誌        Cell 169:203-215.e13 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2017.03.027"">10.1016/j.cell.2017.03.027</a>"
H00690,Forsius-Eriksson 症候群,,,"Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation.",神経系疾患,,CACNA1F [HSA:778] [KO:K04853],,,,,,"ICD-11: 9B7Y
 ICD-10: H35.5
 MeSH: C562664
 OMIM: 300600","PMID:7612552
 著者        Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A
 タイトル      Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
 雑誌        Br J Ophthalmol 79:424-30 (1995)
 DOI:10.1136/bjo.79.5.424
 PMID:2220819
 著者        Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER
 タイトル      Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
 雑誌        Am J Hum Genet 47:795-801 (1990)
 PMID:2667510
 著者        Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR
 タイトル      Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
 雑誌        Arch Ophthalmol 107:1170-9 (1989)
 DOI:10.1001/archopht.1989.01070020236032
 PMID:17525176
 著者        Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T
 タイトル      A novel CACNA1F gene mutation causes Aland Island eye disease.
 雑誌        Invest Ophthalmol Vis Sci 48:2498-502 (2007)
 DOI:10.1167/iovs.06-1103","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00690"">H00690</a>",Forsius-Eriksson 症候群,"Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation.",,"CACNA1F [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:778"">778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04853"">K04853</a>]",,,,,,"ICD-11: 9B7Y
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562664"">C562664</a>
 OMIM: <a href=""https://www.omim.org/entry/300600"">300600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7612552"">7612552</a>
 著者        Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A
 タイトル      Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
 雑誌        Br J Ophthalmol 79:424-30 (1995)
 DOI:<a href=""https://doi.org/10.1136/bjo.79.5.424"">10.1136/bjo.79.5.424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2220819"">2220819</a>
 著者        Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER
 タイトル      Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
 雑誌        Am J Hum Genet 47:795-801 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2667510"">2667510</a>
 著者        Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR
 タイトル      Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
 雑誌        Arch Ophthalmol 107:1170-9 (1989)
 DOI:<a href=""https://doi.org/10.1001/archopht.1989.01070020236032"">10.1001/archopht.1989.01070020236032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17525176"">17525176</a>
 著者        Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T
 タイトル      A novel CACNA1F gene mutation causes Aland Island eye disease.
 雑誌        Invest Ophthalmol Vis Sci 48:2498-502 (2007)
 DOI:<a href=""https://doi.org/10.1167/iovs.06-1103"">10.1167/iovs.06-1103</a>"
H00691,"水疱型先天性魚鱗癬様紅皮症;
 表皮剥離性角化症
 下位グループ    環状表皮剥離性魚鱗癬 [DS:H02265]
 上位グループ    先天性魚鱗癬 [DS:H01771]",,,"Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.",先天奇形,,"KRT1 [HSA:3848] [KO:K07605]
 KRT10 [HSA:3858] [KO:K07604]",,,,エトレチナート [DR:D00316],,"ICD-11: EC20.03
 ICD-10: Q80.3
 MeSH: D017488
 OMIM: 113800","PMID:18571597
 著者        Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
 タイトル      Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
 雑誌        J Am Acad Dermatol 59:86-90 (2008)
 DOI:10.1016/j.jaad.2008.02.031
 PMID:12130905
 著者        Siegel DH, Howard R
 タイトル      Molecular advances in genetic skin diseases.
 雑誌        Curr Opin Pediatr 14:419-25 (2002)
 DOI:10.1097/00008480-200208000-00011
 PMID:15663649 (description, gene, drug)
 著者        Lacz NL, Schwartz RA, Kihiczak G
 タイトル      Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
 雑誌        Int J Dermatol 44:1-6 (2005)
 DOI:10.1111/j.1365-4632.2004.02364.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00691"">H00691</a>","水疱型先天性魚鱗癬様紅皮症;
 表皮剥離性角化症
 下位グループ    環状表皮剥離性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02265"">H02265</a>]
 上位グループ    先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>]","Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.",,"KRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3848"">3848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3858"">3858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,"エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]",,"ICD-11: EC20.03
 ICD-10: Q80.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017488"">D017488</a>
 OMIM: <a href=""https://www.omim.org/entry/113800"">113800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18571597"">18571597</a>
 著者        Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
 タイトル      Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
 雑誌        J Am Acad Dermatol 59:86-90 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2008.02.031"">10.1016/j.jaad.2008.02.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12130905"">12130905</a>
 著者        Siegel DH, Howard R
 タイトル      Molecular advances in genetic skin diseases.
 雑誌        Curr Opin Pediatr 14:419-25 (2002)
 DOI:<a href=""https://doi.org/10.1097/00008480-200208000-00011"">10.1097/00008480-200208000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15663649"">15663649</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Lacz NL, Schwartz RA, Kihiczak G
 タイトル      Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
 雑誌        Int J Dermatol 44:1-6 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2004.02364.x"">10.1111/j.1365-4632.2004.02364.x</a>"
H00692,ロウ症候群,,,"Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol enzyme (4, 5) biphosphate 5-phosphatase present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.",先天代謝異常症; 神経系疾患,,OCRL1 [HSA:4952] [KO:K01099],,,,,Mutations in OCRL1 gene also cause Dent disease [DS:H00694].,"ICD-11: 5C60.0
 ICD-10: E72.0
 MeSH: D009800
 OMIM: 309000","PMID:16722554
 著者        Loi M
 タイトル      Lowe syndrome.
 雑誌        Orphanet J Rare Dis 1:16 (2006)
 DOI:10.1186/1750-1172-1-16
 PMID:21103682
 著者        Maia ML, do Val ML, Genzani CP, Fernandes FA, de Andrade MC, Carvalhaes JT
 タイトル      Lowe syndrome: report of five cases.
 雑誌        J Bras Nefrol 32:216-22 (2010)
 DOI:10.1590/S0101-28002010000200011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00692"">H00692</a>",ロウ症候群,"Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol enzyme (4, 5) biphosphate 5-phosphatase present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.",,"OCRL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4952"">4952</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01099"">K01099</a>]",,,,,"Mutations in OCRL1 gene also cause Dent disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00694]."">H00694].</a>","ICD-11: 5C60.0
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009800"">D009800</a>
 OMIM: <a href=""https://www.omim.org/entry/309000"">309000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722554"">16722554</a>
 著者        Loi M
 タイトル      Lowe syndrome.
 雑誌        Orphanet J Rare Dis 1:16 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-16"">10.1186/1750-1172-1-16</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21103682"">21103682</a>
 著者        Maia ML, do Val ML, Genzani CP, Fernandes FA, de Andrade MC, Carvalhaes JT
 タイトル      Lowe syndrome: report of five cases.
 雑誌        J Bras Nefrol 32:216-22 (2010)
 DOI:<a href=""https://doi.org/10.1590/S0101-28002010000200011"">10.1590/S0101-28002010000200011</a>"
H00693,ジーメンス型水疱性魚鱗癬,,,"Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished by the absence of erythema.",先天奇形,,KRT2E [HSA:3849] [KO:K07605],,,,,Ichthyosis bullosa of Siemens is a milder form of Bullous congenital ichthyosiform erythroderma (BCIE) described in H00691.,"ICD-11: EC20.03
 ICD-10: Q80.8
 MeSH: D053560
 OMIM: 146800","PMID:10688369
 著者        Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR
 タイトル      Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
 雑誌        Exp Dermatol 9:11-5 (2000)
 DOI:10.1034/j.1600-0625.2000.009001011.x
 PMID:15949009
 著者        Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H
 タイトル      Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
 雑誌        Br J Dermatol 152:1353-6 (2005)
 DOI:10.1111/j.1365-2133.2005.06598.x
 PMID:10233323
 著者        Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA
 タイトル      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
 雑誌        Br J Dermatol 140:689-95 (1999)
 DOI:10.1046/j.1365-2133.1999.02772.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00693"">H00693</a>",ジーメンス型水疱性魚鱗癬,"Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished by the absence of erythema.",,"KRT2E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3849"">3849</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,"Ichthyosis bullosa of Siemens is a milder form of Bullous congenital ichthyosiform erythroderma (BCIE) described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00691."">H00691.</a>","ICD-11: EC20.03
 ICD-10: Q80.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053560"">D053560</a>
 OMIM: <a href=""https://www.omim.org/entry/146800"">146800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10688369"">10688369</a>
 著者        Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR
 タイトル      Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
 雑誌        Exp Dermatol 9:11-5 (2000)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0625.2000.009001011.x"">10.1034/j.1600-0625.2000.009001011.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15949009"">15949009</a>
 著者        Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H
 タイトル      Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
 雑誌        Br J Dermatol 152:1353-6 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06598.x"">10.1111/j.1365-2133.2005.06598.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10233323"">10233323</a>
 著者        Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA
 タイトル      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
 雑誌        Br J Dermatol 140:689-95 (1999)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2133.1999.02772.x"">10.1046/j.1365-2133.1999.02772.x</a>"
H00694,"デント病
 下位グループ    デント病 1型
 デント病 2型
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:H02149]",,,"Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome.",泌尿器系疾患,,"CLCN5 [HSA:1184] [KO:K05012]
 OCRL1 [HSA:4952] [KO:K01099]",,,,,Mutations in OCRL1 gene also cause Lowe syndrome [DS:H00692].,"ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: D057973
 OMIM: 300009 300555","PMID:20946626
 著者        Devuyst O, Thakker RV
 タイトル      Dent's disease.
 雑誌        Orphanet J Rare Dis 5:28 (2010)
 DOI:10.1186/1750-1172-5-28
 PMID:15086899
 著者        Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ
 タイトル      Evidence for genetic heterogeneity in Dent's disease.
 雑誌        Kidney Int 65:1615-20 (2004)
 DOI:10.1111/j.1523-1755.2004.00571.x
 PMID:15627218
 著者        Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ
 タイトル      Dent Disease with mutations in OCRL1.
 雑誌        Am J Hum Genet 76:260-7 (2005)
 DOI:10.1086/427887","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00694"">H00694</a>","デント病
 下位グループ    デント病 1型
 デント病 2型
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02149"">H02149</a>]","Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome.",,"CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]
 OCRL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4952"">4952</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01099"">K01099</a>]",,,,,"Mutations in OCRL1 gene also cause Lowe syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00692]."">H00692].</a>","ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057973"">D057973</a>
 OMIM: <a href=""https://www.omim.org/entry/300009"">300009</a> <a href=""https://www.omim.org/entry/300555"">300555</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20946626"">20946626</a>
 著者        Devuyst O, Thakker RV
 タイトル      Dent's disease.
 雑誌        Orphanet J Rare Dis 5:28 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-28"">10.1186/1750-1172-5-28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15086899"">15086899</a>
 著者        Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ
 タイトル      Evidence for genetic heterogeneity in Dent's disease.
 雑誌        Kidney Int 65:1615-20 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1523-1755.2004.00571.x"">10.1111/j.1523-1755.2004.00571.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15627218"">15627218</a>
 著者        Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ
 タイトル      Dent Disease with mutations in OCRL1.
 雑誌        Am J Hum Genet 76:260-7 (2005)
 DOI:<a href=""https://doi.org/10.1086/427887"">10.1086/427887</a>"
H00695,"メレダ病
 上位グループ    非表皮剥離性掌蹠角化症 [DS:H00723]
 掌蹠角化症 [DS:H01673]",,,"Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal surface of the hands and feet as the patient ages. It is associated with brachydactyly and nail abnormalities. Mental retardation may also occur.",先天奇形,,SLURP1 [HSA:57152] [KO:K23681],,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: D007645
 OMIM: 248300","PMID:15708285
 著者        Itin PH, Fistarol SK
 タイトル      Palmoplantar keratodermas.
 雑誌        Clin Dermatol 23:15-22 (2005)
 DOI:10.1016/j.clindermatol.2004.09.005
 PMID:12603845
 著者        Marrakchi S, Audebert S, Bouadjar B, Has C, Lefevre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J
 タイトル      Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
 雑誌        J Invest Dermatol 120:351-5 (2003)
 DOI:10.1046/j.1523-1747.2003.12062.x
 PMID:12483299
 著者        Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nurnberg P, Reis A, Hennies HC
 タイトル      Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
 雑誌        Hum Genet 112:50-6 (2003)
 DOI:10.1007/s00439-002-0838-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00695"">H00695</a>","メレダ病
 上位グループ    非表皮剥離性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>]
 掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal surface of the hands and feet as the patient ages. It is associated with brachydactyly and nail abnormalities. Mental retardation may also occur.",,"SLURP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57152"">57152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23681"">K23681</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007645"">D007645</a>
 OMIM: <a href=""https://www.omim.org/entry/248300"">248300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708285"">15708285</a>
 著者        Itin PH, Fistarol SK
 タイトル      Palmoplantar keratodermas.
 雑誌        Clin Dermatol 23:15-22 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.005"">10.1016/j.clindermatol.2004.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12603845"">12603845</a>
 著者        Marrakchi S, Audebert S, Bouadjar B, Has C, Lefevre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J
 タイトル      Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
 雑誌        J Invest Dermatol 120:351-5 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2003.12062.x"">10.1046/j.1523-1747.2003.12062.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12483299"">12483299</a>
 著者        Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nurnberg P, Reis A, Hennies HC
 タイトル      Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
 雑誌        Hum Genet 112:50-6 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0838-8"">10.1007/s00439-002-0838-8</a>"
H00696,"Haim-Munk 症候群;
 歯周組織崩壊と爪甲鉤弯症を伴う掌蹠角化症",,,"Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin C gene cause this disease.",先天奇形,,CTSC [HSA:1075] [KO:K01275],,,,,,"ICD-11: LD27.Y
 ICD-10: Q82.8
 MeSH: C537627
 OMIM: 245010","PMID:15708285
 著者        Itin PH, Fistarol SK
 タイトル      Palmoplantar keratodermas.
 雑誌        Clin Dermatol 23:15-22 (2005)
 DOI:10.1016/j.clindermatol.2004.09.005
 PMID:15727652
 著者        Cury VF, Gomez RS, Costa JE, Friedman E, Boson W, De Marco L
 タイトル      A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
 雑誌        Br J Dermatol 152:353-6 (2005)
 DOI:10.1111/j.1365-2133.2004.06278.x
 PMID:10662807
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA
 タイトル      Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.
 雑誌        J Med Genet 37:88-94 (2000)
 DOI:10.1136/jmg.37.2.88
 PMID:10662808
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S
 タイトル      Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
 雑誌        J Med Genet 37:95-101 (2000)
 DOI:10.1136/jmg.37.2.95","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00696"">H00696</a>","Haim-Munk 症候群;
 歯周組織崩壊と爪甲鉤弯症を伴う掌蹠角化症","Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin C gene cause this disease.",,"CTSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1075"">1075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01275"">K01275</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537627"">C537627</a>
 OMIM: <a href=""https://www.omim.org/entry/245010"">245010</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708285"">15708285</a>
 著者        Itin PH, Fistarol SK
 タイトル      Palmoplantar keratodermas.
 雑誌        Clin Dermatol 23:15-22 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.005"">10.1016/j.clindermatol.2004.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15727652"">15727652</a>
 著者        Cury VF, Gomez RS, Costa JE, Friedman E, Boson W, De Marco L
 タイトル      A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
 雑誌        Br J Dermatol 152:353-6 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2004.06278.x"">10.1111/j.1365-2133.2004.06278.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10662807"">10662807</a>
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA
 タイトル      Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.
 雑誌        J Med Genet 37:88-94 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.2.88"">10.1136/jmg.37.2.88</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10662808"">10662808</a>
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S
 タイトル      Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
 雑誌        J Med Genet 37:95-101 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.2.95"">10.1136/jmg.37.2.95</a>"
H00697,体位性筋収縮を伴うX連鎖ミオパチー,,,X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA.,神経系疾患; 筋骨格疾患,,FHL1 [HSA:2273] [KO:K14365],,,,,,"ICD-11: 8C70.Y
 ICD-10: G71.0
 MeSH: C567480
 OMIM: 300696","PMID:21310615
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:10.1016/j.nmd.2011.01.001
 PMID:20874719
 著者        Shathasivam T, Kislinger T, Gramolini AO
 タイトル      Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.
 雑誌        J Cell Mol Med 14:2702-20 (2010)
 DOI:10.1111/j.1582-4934.2010.01176.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00697"">H00697</a>",体位性筋収縮を伴うX連鎖ミオパチー,X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA.,,"FHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2273"">2273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14365"">K14365</a>]",,,,,,"ICD-11: 8C70.Y
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567480"">C567480</a>
 OMIM: <a href=""https://www.omim.org/entry/300696"">300696</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21310615"">21310615</a>
 著者        Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
 タイトル      Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
 雑誌        Neuromuscul Disord 21:237-51 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2011.01.001"">10.1016/j.nmd.2011.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20874719"">20874719</a>
 著者        Shathasivam T, Kislinger T, Gramolini AO
 タイトル      Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.
 雑誌        J Cell Mol Med 14:2702-20 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1582-4934.2010.01176.x"">10.1111/j.1582-4934.2010.01176.x</a>"
H00698,"ネマリンミオパチー
 下位グループ    キャップ病 [DS:H00702]
 上位グループ    先天性ミオパチー [DS:H01810]",,,"Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common.",神経系疾患; 筋骨格疾患,,"(NEM1) TPM3 [HSA:7170] [KO:K09290]
 (NEM2) NEB [HSA:4703] [KO:K18267]
 (NEM3) ACTA1 [HSA:58] [KO:K10354]
 (NEM4) TPM2 [HSA:7169] [KO:K10374]
 (NEM5) TNNT1 [HSA:7138] [KO:K10372]
 (NEM6) KBTBD13 [HSA:390594] [KO:K21913]
 (NEM7) CFL2 [HSA:1073] [KO:K05765]
 (NEM8) KLHL40 [HSA:131377] [KO:K10473]
 (NEM9) KLHL41 [HSA:10324] [KO:K10473]
 (NEM10) LMOD3 [HSA:56203] [KO:K22030]
 (NEM11) MYPN [HSA:84665] [KO:K22028]",,,,,,"ICD-11: 8C72.00
 ICD-10: G71.2
 MeSH: D017696
 OMIM: 609284 256030 161800 609285 605355 609273 610687 615348 615731 616165 617336","PMID:18367042
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:10.1007/s11910-008-0012-3
 PMID:20301465
 著者        North K, Ryan MM
 タイトル      Nemaline Myopathy
 雑誌        GeneReviews (1993)
 PMID:21109227
 著者        Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG
 タイトル      Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
 雑誌        Am J Hum Genet 87:842-7 (2010)
 DOI:10.1016/j.ajhg.2010.10.020
 PMID:23746549
 著者        Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
 タイトル      Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
 雑誌        Am J Hum Genet 93:6-18 (2013)
 DOI:10.1016/j.ajhg.2013.05.004
 PMID:24268659
 著者        Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH
 タイトル      Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
 雑誌        Am J Hum Genet 93:1108-17 (2013)
 DOI:10.1016/j.ajhg.2013.10.020
 PMID:25250574
 著者        Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF
 タイトル      Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
 雑誌        J Clin Invest 124:4693-708 (2014)
 DOI:10.1172/JCI75199
 PMID:28017374
 著者        Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
 タイトル      Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
 雑誌        Am J Hum Genet 100:169-178 (2017)
 DOI:10.1016/j.ajhg.2016.11.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00698"">H00698</a>","ネマリンミオパチー
 下位グループ    キャップ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00702"">H00702</a>]
 上位グループ    先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common.",,"(NEM1) TPM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]
 (NEM2) NEB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4703"">4703</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18267"">K18267</a>]
 (NEM3) ACTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58"">58</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10354"">K10354</a>]
 (NEM4) TPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7169"">7169</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10374"">K10374</a>]
 (NEM5) TNNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7138"">7138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10372"">K10372</a>]
 (NEM6) KBTBD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:390594"">390594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21913"">K21913</a>]
 (NEM7) CFL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1073"">1073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05765"">K05765</a>]
 (NEM8) KLHL40 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:131377"">131377</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10473"">K10473</a>]
 (NEM9) KLHL41 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10324"">10324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10473"">K10473</a>]
 (NEM10) LMOD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56203"">56203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22030"">K22030</a>]
 (NEM11) MYPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84665"">84665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22028"">K22028</a>]",,,,,,"ICD-11: 8C72.00
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017696"">D017696</a>
 OMIM: <a href=""https://www.omim.org/entry/609284"">609284</a> <a href=""https://www.omim.org/entry/256030"">256030</a> <a href=""https://www.omim.org/entry/161800"">161800</a> <a href=""https://www.omim.org/entry/609285"">609285</a> <a href=""https://www.omim.org/entry/605355"">605355</a> <a href=""https://www.omim.org/entry/609273"">609273</a> <a href=""https://www.omim.org/entry/610687"">610687</a> <a href=""https://www.omim.org/entry/615348"">615348</a> <a href=""https://www.omim.org/entry/615731"">615731</a> <a href=""https://www.omim.org/entry/616165"">616165</a> <a href=""https://www.omim.org/entry/617336"">617336</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18367042"">18367042</a>
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11910-008-0012-3"">10.1007/s11910-008-0012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301465"">20301465</a>
 著者        North K, Ryan MM
 タイトル      Nemaline Myopathy
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21109227"">21109227</a>
 著者        Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG
 タイトル      Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
 雑誌        Am J Hum Genet 87:842-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.020"">10.1016/j.ajhg.2010.10.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23746549"">23746549</a>
 著者        Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
 タイトル      Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
 雑誌        Am J Hum Genet 93:6-18 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.004"">10.1016/j.ajhg.2013.05.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24268659"">24268659</a>
 著者        Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH
 タイトル      Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
 雑誌        Am J Hum Genet 93:1108-17 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.020"">10.1016/j.ajhg.2013.10.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25250574"">25250574</a>
 著者        Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF
 タイトル      Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
 雑誌        J Clin Invest 124:4693-708 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI75199"">10.1172/JCI75199</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28017374"">28017374</a>
 著者        Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
 タイトル      Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
 雑誌        Am J Hum Genet 100:169-178 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.017"">10.1016/j.ajhg.2016.11.017</a>"
H00699,"セントラルコア病
 上位グループ    先天性ミオパチー [DS:H01810]",,,"Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal dominant trait but recessive inheritance has been recently described in few families. The clinical phenotype of dominantly inherited CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle. CCD is due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes of the RyR protein are considered the main pathogenetic mechanisms.",神経系疾患; 筋骨格疾患,,RYR1 [HSA:6261] [KO:K04961],,,,,,"ICD-11: 8C72.02
 ICD-10: G71.2
 MeSH: D020512
 OMIM: 117000","PMID:18367042
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:10.1007/s11910-008-0012-3
 PMID:18313359
 著者        Treves S, Jungbluth H, Muntoni F, Zorzato F
 タイトル      Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
 雑誌        Curr Opin Pharmacol 8:319-26 (2008)
 DOI:10.1016/j.coph.2008.01.005
 PMID:17504518
 著者        Jungbluth H
 タイトル      Central core disease.
 雑誌        Orphanet J Rare Dis 2:25 (2007)
 DOI:10.1186/1750-1172-2-25","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00699"">H00699</a>","セントラルコア病
 上位グループ    先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal dominant trait but recessive inheritance has been recently described in few families. The clinical phenotype of dominantly inherited CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle. CCD is due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes of the RyR protein are considered the main pathogenetic mechanisms.",,"RYR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6261"">6261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04961"">K04961</a>]",,,,,,"ICD-11: 8C72.02
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020512"">D020512</a>
 OMIM: <a href=""https://www.omim.org/entry/117000"">117000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18367042"">18367042</a>
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11910-008-0012-3"">10.1007/s11910-008-0012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18313359"">18313359</a>
 著者        Treves S, Jungbluth H, Muntoni F, Zorzato F
 タイトル      Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
 雑誌        Curr Opin Pharmacol 8:319-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.coph.2008.01.005"">10.1016/j.coph.2008.01.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17504518"">17504518</a>
 著者        Jungbluth H
 タイトル      Central core disease.
 雑誌        Orphanet J Rare Dis 2:25 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-25"">10.1186/1750-1172-2-25</a>"
H00700,"中心核ミオパチー
 上位グループ    先天性ミオパチー [DS:H01810]",,,"Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM.",神経系疾患; 筋骨格疾患,,"(XLMTM) MTM1 [HSA:4534] [KO:K01108]
 (CNM1) DNM2 [HSA:1785] [KO:K23484]
 (CNM2) BIN1 [HSA:274] [KO:K12562]
 (CNM3) MYF6 [HSA:4618] [KO:K18485]
 (CNM4) CCDC78 [HSA:124093] [KO:K23693]
 (CNM5) SPEG [HSA:10290] [KO:K08809]
 (CNM6) MAP3K20 [HSA:51776] [KO:K04424]",,,,,,"ICD-11: 8C72.01
 ICD-10: G71.2
 MeSH: C538647 C562934 C563544
 OMIM: 310400 160150 255200 614408 614807 615959 617760","PMID:20181480
 著者        Romero NB
 タイトル      Centronuclear myopathies: a widening concept.
 雑誌        Neuromuscul Disord 20:223-8 (2010)
 DOI:10.1016/j.nmd.2010.01.014
 PMID:18817572
 著者        Jungbluth H, Wallgren-Pettersson C, Laporte J
 タイトル      Centronuclear (myotubular) myopathy.
 雑誌        Orphanet J Rare Dis 3:26 (2008)
 DOI:10.1186/1750-1172-3-26
 PMID:11053684
 著者        Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hubner C
 タイトル      Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
 雑誌        Neuromuscul Disord 10:572-7 (2000)
 DOI:10.1016/S0960-8966(00)00150-4
 PMID:22818856
 著者        Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ
 タイトル      Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
 雑誌        Am J Hum Genet 91:365-71 (2012)
 DOI:10.1016/j.ajhg.2012.06.012
 PMID:25087613
 著者        Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH
 タイトル      SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
 雑誌        Am J Hum Genet 95:218-26 (2014)
 DOI:10.1016/j.ajhg.2014.07.004
 PMID:27816943
 著者        Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M
 タイトル      Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
 雑誌        Brain 140:37-48 (2017)
 DOI:10.1093/brain/aww257","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00700"">H00700</a>","中心核ミオパチー
 上位グループ    先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM.",,"(XLMTM) MTM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4534"">4534</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01108"">K01108</a>]
 (CNM1) DNM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1785"">1785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23484"">K23484</a>]
 (CNM2) BIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:274"">274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12562"">K12562</a>]
 (CNM3) MYF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4618"">4618</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18485"">K18485</a>]
 (CNM4) CCDC78 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124093"">124093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23693"">K23693</a>]
 (CNM5) SPEG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10290"">10290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08809"">K08809</a>]
 (CNM6) MAP3K20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51776"">51776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04424"">K04424</a>]",,,,,,"ICD-11: 8C72.01
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538647"">C538647</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562934"">C562934</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563544"">C563544</a>
 OMIM: <a href=""https://www.omim.org/entry/310400"">310400</a> <a href=""https://www.omim.org/entry/160150"">160150</a> <a href=""https://www.omim.org/entry/255200"">255200</a> <a href=""https://www.omim.org/entry/614408"">614408</a> <a href=""https://www.omim.org/entry/614807"">614807</a> <a href=""https://www.omim.org/entry/615959"">615959</a> <a href=""https://www.omim.org/entry/617760"">617760</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20181480"">20181480</a>
 著者        Romero NB
 タイトル      Centronuclear myopathies: a widening concept.
 雑誌        Neuromuscul Disord 20:223-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2010.01.014"">10.1016/j.nmd.2010.01.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18817572"">18817572</a>
 著者        Jungbluth H, Wallgren-Pettersson C, Laporte J
 タイトル      Centronuclear (myotubular) myopathy.
 雑誌        Orphanet J Rare Dis 3:26 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-26"">10.1186/1750-1172-3-26</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11053684"">11053684</a>
 著者        Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hubner C
 タイトル      Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
 雑誌        Neuromuscul Disord 10:572-7 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(00)00150-4"">10.1016/S0960-8966(00)00150-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22818856"">22818856</a>
 著者        Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ
 タイトル      Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
 雑誌        Am J Hum Genet 91:365-71 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.06.012"">10.1016/j.ajhg.2012.06.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25087613"">25087613</a>
 著者        Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH
 タイトル      SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
 雑誌        Am J Hum Genet 95:218-26 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.004"">10.1016/j.ajhg.2014.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27816943"">27816943</a>
 著者        Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M
 タイトル      Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
 雑誌        Brain 140:37-48 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/aww257"">10.1093/brain/aww257</a>"
H00701,"先天性筋線維タイプ不均等症
 上位グループ    先天性ミオパチー [DS:H01810]",,,"Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings, in addition to a clinical presentation typical of congenital myopathies. CFTD is a genetically heterogenous condition with X-linked, autosomal dominant, and autosomal recessive inheritance patterns. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases, and recently mutations in the TPM3 gene were also found to cause CFTD.",神経系疾患; 筋骨格疾患,,"ACTA1 [HSA:58] [KO:K10354]
 SEPN1 [HSA:57190] [KO:K19874]
 TPM3 [HSA:7170] [KO:K09290]",,,,,,"ICD-11: 8C72.1
 ICD-10: G71.2
 MeSH: C567594
 OMIM: 255310","PMID:18300303
 著者        Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN
 タイトル      Mutations in TPM3 are a common cause of congenital fiber type disproportion.
 雑誌        Ann Neurol 63:329-37 (2008)
 DOI:10.1002/ana.21308
 PMID:19953533
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:10.1002/humu.21157","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00701"">H00701</a>","先天性筋線維タイプ不均等症
 上位グループ    先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings, in addition to a clinical presentation typical of congenital myopathies. CFTD is a genetically heterogenous condition with X-linked, autosomal dominant, and autosomal recessive inheritance patterns. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases, and recently mutations in the TPM3 gene were also found to cause CFTD.",,"ACTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58"">58</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10354"">K10354</a>]
 SEPN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57190"">57190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19874"">K19874</a>]
 TPM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]",,,,,,"ICD-11: 8C72.1
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567594"">C567594</a>
 OMIM: <a href=""https://www.omim.org/entry/255310"">255310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18300303"">18300303</a>
 著者        Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN
 タイトル      Mutations in TPM3 are a common cause of congenital fiber type disproportion.
 雑誌        Ann Neurol 63:329-37 (2008)
 DOI:<a href=""https://doi.org/10.1002/ana.21308"">10.1002/ana.21308</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19953533"">19953533</a>
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21157"">10.1002/humu.21157</a>"
H00702,"キャップ病
 上位グループ    ネマリンミオパチー [DS:H00698]
 先天性ミオパチー [DS:H01810]",,,"Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments.",神経系疾患; 筋骨格疾患,,"TRM2 [HSA:7169] [KO:K10374]
 TRM3 [HSA:7170] [KO:K09290]
 ACTA1 [HSA:58] [KO:K10354]",,,,,,"ICD-11: 8C72.00
 ICD-10: G71.2
 MeSH: C579969
 OMIM: 609285 609284","PMID:20303757
 著者        Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J
 タイトル      Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
 雑誌        Neuromuscul Disord 20:238-40 (2010)
 DOI:10.1016/j.nmd.2010.01.011
 PMID:19553118
 著者        De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J
 タイトル      A TPM3 mutation causing cap myopathy.
 雑誌        Neuromuscul Disord 19:685-8 (2009)
 DOI:10.1016/j.nmd.2009.06.365
 PMID:19953533
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:10.1002/humu.21157","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00702"">H00702</a>","キャップ病
 上位グループ    ネマリンミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00698"">H00698</a>]
 先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments.",,"TRM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7169"">7169</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10374"">K10374</a>]
 TRM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7170"">7170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09290"">K09290</a>]
 ACTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58"">58</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10354"">K10354</a>]",,,,,,"ICD-11: 8C72.00
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579969"">C579969</a>
 OMIM: <a href=""https://www.omim.org/entry/609285"">609285</a> <a href=""https://www.omim.org/entry/609284"">609284</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20303757"">20303757</a>
 著者        Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J
 タイトル      Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
 雑誌        Neuromuscul Disord 20:238-40 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2010.01.011"">10.1016/j.nmd.2010.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19553118"">19553118</a>
 著者        De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J
 タイトル      A TPM3 mutation causing cap myopathy.
 雑誌        Neuromuscul Disord 19:685-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2009.06.365"">10.1016/j.nmd.2009.06.365</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19953533"">19953533</a>
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21157"">10.1002/humu.21157</a>"
H00703,ミオシンストレージミオパチー,,,"Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle weakness. Clinically, patients exhibit variable age of onset ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail.",神経系疾患; 筋骨格疾患,,MYH7 [HSA:4625] [KO:K17751],,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.2
 MeSH: C564253
 OMIM: 608358","PMID:21288719
 著者        Ortolano S, Tarrio R, Blanco-Arias P, Teijeira S, Rodriguez-Trelles F, Garcia-Murias M, Delague V, Levy N, Fernandez JM, Quintans B, Millan BS, Carracedo A, Navarro C, Sobrido MJ
 タイトル      A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
 雑誌        Neuromuscul Disord 21:254-62 (2011)
 DOI:10.1016/j.nmd.2010.12.011
 PMID:19953533
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:10.1002/humu.21157","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00703"">H00703</a>",ミオシンストレージミオパチー,"Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle weakness. Clinically, patients exhibit variable age of onset ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail.",,"MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]",,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564253"">C564253</a>
 OMIM: <a href=""https://www.omim.org/entry/608358"">608358</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21288719"">21288719</a>
 著者        Ortolano S, Tarrio R, Blanco-Arias P, Teijeira S, Rodriguez-Trelles F, Garcia-Murias M, Delague V, Levy N, Fernandez JM, Quintans B, Millan BS, Carracedo A, Navarro C, Sobrido MJ
 タイトル      A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
 雑誌        Neuromuscul Disord 21:254-62 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2010.12.011"">10.1016/j.nmd.2010.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19953533"">19953533</a>
 著者        Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
 タイトル      Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
 雑誌        Hum Mutat 31:176-83 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21157"">10.1002/humu.21157</a>"
H00704,眼球咽頭型筋ジストロフィー,,,"Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases.",神経系疾患; 筋骨格疾患,,PABPN1 [HSA:8106] [KO:K14396],,,,,,"ICD-11: 9C82.1
 ICD-10: G71.0
 MeSH: D039141
 OMIM: 164300","PMID:17110089
 著者        Abu-Baker A, Rouleau GA
 タイトル      Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
 雑誌        Biochim Biophys Acta 1772:173-85 (2007)
 DOI:10.1016/j.bbadis.2006.10.003
 PMID:19080757
 著者        Brais B
 タイトル      Oculopharyngeal muscular dystrophy: a polyalanine myopathy.
 雑誌        Curr Neurol Neurosci Rep 9:76-82 (2009)
 DOI:10.1007/s11910-009-0012-y
 PMID:22001477
 著者        Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N
 タイトル      Oculopharyngeal muscular dystrophy associated with dementia.
 雑誌        Intern Med 50:2409-12 (2011)
 DOI:10.2169/internalmedicine.50.5577","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00704"">H00704</a>",眼球咽頭型筋ジストロフィー,"Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases.",,"PABPN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8106"">8106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14396"">K14396</a>]",,,,,,"ICD-11: 9C82.1
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D039141"">D039141</a>
 OMIM: <a href=""https://www.omim.org/entry/164300"">164300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17110089"">17110089</a>
 著者        Abu-Baker A, Rouleau GA
 タイトル      Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
 雑誌        Biochim Biophys Acta 1772:173-85 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2006.10.003"">10.1016/j.bbadis.2006.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19080757"">19080757</a>
 著者        Brais B
 タイトル      Oculopharyngeal muscular dystrophy: a polyalanine myopathy.
 雑誌        Curr Neurol Neurosci Rep 9:76-82 (2009)
 DOI:<a href=""https://doi.org/10.1007/s11910-009-0012-y"">10.1007/s11910-009-0012-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22001477"">22001477</a>
 著者        Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N
 タイトル      Oculopharyngeal muscular dystrophy associated with dementia.
 雑誌        Intern Med 50:2409-12 (2011)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.50.5577"">10.2169/internalmedicine.50.5577</a>"
H00705,"先天性ミオトニー
 下位グループ    常染色体優性遺伝性ミオトニー（トムゼン病)
 常染色体劣性遺伝性ミオトニー（ベッカー病)
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:H01780]",,,"Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.",神経系疾患; 筋骨格疾患,,CLCN1 [HSA:1180] [KO:K05010],,,,,,"ICD-11: 8C71.2
 ICD-10: G71.1
 MeSH: D009224
 OMIM: 160800 255700","PMID:19185184
 著者        Lossin C, George AL Jr
 タイトル      Myotonia congenita.
 雑誌        Adv Genet 63:25-55 (2008)
 DOI:10.1016/S0065-2660(08)01002-X
 PMID:17395134 (description, gene, drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:10.1016/j.nurt.2007.01.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00705"">H00705</a>","先天性ミオトニー
 下位グループ    常染色体優性遺伝性ミオトニー（トムゼン病)
 常染色体劣性遺伝性ミオトニー（ベッカー病)
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01780"">H01780</a>]","Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.",,"CLCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1180"">1180</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05010"">K05010</a>]",,,,,,"ICD-11: 8C71.2
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009224"">D009224</a>
 OMIM: <a href=""https://www.omim.org/entry/160800"">160800</a> <a href=""https://www.omim.org/entry/255700"">255700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185184"">19185184</a>
 著者        Lossin C, George AL Jr
 タイトル      Myotonia congenita.
 雑誌        Adv Genet 63:25-55 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0065-2660(08)01002-X"">10.1016/S0065-2660(08)01002-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17395134"">17395134</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nurt.2007.01.012"">10.1016/j.nurt.2007.01.012</a>"
H00706,Bart-Pumphrey 症候群,,,"Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.",先天奇形,,GJB2 [HSA:2706] [KO:K07621],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q82.8
 MeSH: C537210
 OMIM: 149200","PMID:8151643
 著者        Ramer JC, Vasily DB, Ladda RL
 タイトル      Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
 雑誌        J Med Genet 31:68-71 (1994)
 DOI:10.1136/jmg.31.1.68
 PMID:15952212
 著者        Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE
 タイトル      G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
 雑誌        Am J Med Genet A 136:282-4 (2005)
 DOI:10.1002/ajmg.a.30822
 PMID:15482471
 著者        Richard G, Brown N, Ishida-Yamamoto A, Krol A
 タイトル      Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
 雑誌        J Invest Dermatol 123:856-63 (2004)
 DOI:10.1111/j.0022-202X.2004.23470.x
 PMID:19939300
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:10.1017/S1462399409001276","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00706"">H00706</a>",Bart-Pumphrey 症候群,"Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.",,"GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537210"">C537210</a>
 OMIM: <a href=""https://www.omim.org/entry/149200"">149200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8151643"">8151643</a>
 著者        Ramer JC, Vasily DB, Ladda RL
 タイトル      Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
 雑誌        J Med Genet 31:68-71 (1994)
 DOI:<a href=""https://doi.org/10.1136/jmg.31.1.68"">10.1136/jmg.31.1.68</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15952212"">15952212</a>
 著者        Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE
 タイトル      G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
 雑誌        Am J Med Genet A 136:282-4 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30822"">10.1002/ajmg.a.30822</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15482471"">15482471</a>
 著者        Richard G, Brown N, Ishida-Yamamoto A, Krol A
 タイトル      Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
 雑誌        J Invest Dermatol 123:856-63 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0022-202X.2004.23470.x"">10.1111/j.0022-202X.2004.23470.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19939300"">19939300</a>
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:<a href=""https://doi.org/10.1017/S1462399409001276"">10.1017/S1462399409001276</a>"
H00707,Curth-Macklin型豪猪皮状魚鱗癬,,,"Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes.",先天奇形,,KRT1 [HSA:3848] [KO:K07605],,,,,,"ICD-11: EC20.03
 ICD-10: Q80.8
 MeSH: C536088
 OMIM: 146590","PMID:21844476
 著者        Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A
 タイトル      Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.
 雑誌        Arch Dermatol 147:999-1001 (2011)
 DOI:10.1001/archdermatol.2011.217
 PMID:12603866
 著者        Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H
 タイトル      In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.
 雑誌        J Invest Dermatol 120:498-500 (2003)
 DOI:10.1046/j.1523-1747.2003.12064.x
 PMID:12688839
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:10.2165/00128071-200304050-00005
 PMID:12196741
 著者        Kimyai-Asadi A, Kotcher LB, Jih MH
 タイトル      The molecular basis of hereditary palmoplantar keratodermas.
 雑誌        J Am Acad Dermatol 47:327-43; quiz 344-6 (2002)
 DOI:10.1067/mjd.2002.124814","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00707"">H00707</a>",Curth-Macklin型豪猪皮状魚鱗癬,"Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes.",,"KRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3848"">3848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: EC20.03
 ICD-10: Q80.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536088"">C536088</a>
 OMIM: <a href=""https://www.omim.org/entry/146590"">146590</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21844476"">21844476</a>
 著者        Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase S, Ishida-Yamamoto A
 タイトル      Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.
 雑誌        Arch Dermatol 147:999-1001 (2011)
 DOI:<a href=""https://doi.org/10.1001/archdermatol.2011.217"">10.1001/archdermatol.2011.217</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12603866"">12603866</a>
 著者        Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H
 タイトル      In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.
 雑誌        J Invest Dermatol 120:498-500 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2003.12064.x"">10.1046/j.1523-1747.2003.12064.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12688839"">12688839</a>
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:<a href=""https://doi.org/10.2165/00128071-200304050-00005"">10.2165/00128071-200304050-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12196741"">12196741</a>
 著者        Kimyai-Asadi A, Kotcher LB, Jih MH
 タイトル      The molecular basis of hereditary palmoplantar keratodermas.
 雑誌        J Am Acad Dermatol 47:327-43; quiz 344-6 (2002)
 DOI:<a href=""https://doi.org/10.1067/mjd.2002.124814"">10.1067/mjd.2002.124814</a>"
H00708,Naegeli-Franceschetti-Jadassohn 症候群,,,"Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed in some patients. Decreased expression of keratin 14 in this disorder sensitizes the keratinocytes to TNF-alpha-induced apoptosis.",先天奇形,,KRT14 [HSA:3861] [KO:K07604],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C538331
 OMIM: 161000","PMID:18049449
 著者        Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E
 タイトル      KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
 雑誌        J Invest Dermatol 128:1517-24 (2008)
 DOI:10.1038/sj.jid.5701187
 PMID:16960809
 著者        Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E
 タイトル      Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
 雑誌        Am J Hum Genet 79:724-30 (2006)
 DOI:10.1086/507792
 PMID:7929942
 著者        Papini M
 タイトル      Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.
 雑誌        J Am Acad Dermatol 31:830 (1994)
 DOI:10.1016/S0190-9622(09)80068-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00708"">H00708</a>",Naegeli-Franceschetti-Jadassohn 症候群,"Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed in some patients. Decreased expression of keratin 14 in this disorder sensitizes the keratinocytes to TNF-alpha-induced apoptosis.",,"KRT14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3861"">3861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538331"">C538331</a>
 OMIM: <a href=""https://www.omim.org/entry/161000"">161000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18049449"">18049449</a>
 著者        Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E
 タイトル      KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
 雑誌        J Invest Dermatol 128:1517-24 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.jid.5701187"">10.1038/sj.jid.5701187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16960809"">16960809</a>
 著者        Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E
 タイトル      Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
 雑誌        Am J Hum Genet 79:724-30 (2006)
 DOI:<a href=""https://doi.org/10.1086/507792"">10.1086/507792</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7929942"">7929942</a>
 著者        Papini M
 タイトル      Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.
 雑誌        J Am Acad Dermatol 31:830 (1994)
 DOI:<a href=""https://doi.org/10.1016/S0190-9622(09)80068-6"">10.1016/S0190-9622(09)80068-6</a>"
H00709,Birk-Barel 症候群,,,"Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted.",先天奇形,,KCNK9 [HSA:51305] [KO:K04919],,,,,genomic-imprinting defects,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C567357
 OMIM: 612292","PMID:18678320
 著者        Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS
 タイトル      Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
 雑誌        Am J Hum Genet 83:193-9 (2008)
 DOI:10.1016/j.ajhg.2008.07.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00709"">H00709</a>",Birk-Barel 症候群,"Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted.",,"KCNK9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51305"">51305</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04919"">K04919</a>]",,,,,genomic-imprinting defects,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567357"">C567357</a>
 OMIM: <a href=""https://www.omim.org/entry/612292"">612292</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18678320"">18678320</a>
 著者        Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS
 タイトル      Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
 雑誌        Am J Hum Genet 83:193-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.07.010"">10.1016/j.ajhg.2008.07.010</a>"
H00710,変異性紅斑角皮症,,,"Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by mutations in GJB3, GJB4, and GJA1, the genes encoding for connexin channels proteins in the epidermis.",先天奇形,,"(EKVP1) GJB3 [HSA:2707] [KO:K07622]
 (EKVP2) GJB4 [HSA:127534] [KO:K07623]
 (EKVP3) GJA1 [HSA:2697] [KO:K07372]
 (EKVP4) KDSR [HSA:2531] [KO:K04708]
 (EKVP5) KRT83 [HSA:3889] [KO:K07605]
 (EKVP6) TRPM4 [HSA:54795] [KO:K04979]
 (EKVP7) PERP [HSA:64065] [KO:K10136]",,,,,,"ICD-11: EC20.0Y
 ICD-10: Q82.8
 MeSH: D056266
 OMIM: 133200 617524 617525 617526 617756 618531 619209","PMID:8747585
 著者        Hendrix JD Jr, Greer KE
 タイトル      Erythrokeratodermia variabilis present at birth: case report and review of the literature.
 雑誌        Pediatr Dermatol 12:351-4 (1995)
 DOI:10.1111/j.1525-1470.1995.tb00200.x
 PMID:9784050
 著者        Papadavid E, Koumantaki E, Dawber RP
 タイトル      Erythrokeratoderma variabilis: case report and review of the literature.
 雑誌        J Eur Acad Dermatol Venereol 11:180-3 (1998)
 DOI:10.1111/j.1468-3083.1998.tb00777.x
 PMID:9843209
 著者        Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
 タイトル      Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
 雑誌        Nat Genet 20:366-9 (1998)
 DOI:10.1038/3840
 PMID:12648223
 著者        Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
 タイトル      Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
 雑誌        J Invest Dermatol 120:601-9 (2003)
 DOI:10.1046/j.1523-1747.2003.12080.x
 PMID:25398053
 著者        Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA
 タイトル      Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 雑誌        J Invest Dermatol 135:1540-1547 (2015)
 DOI:10.1038/jid.2014.485
 PMID:28575652
 著者        Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA
 タイトル      Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
 雑誌        Am J Hum Genet 100:978-984 (2017)
 DOI:10.1016/j.ajhg.2017.05.003
 PMID:27965375
 著者        Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA
 タイトル      Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
 雑誌        J Med Genet 54:186-189 (2017)
 DOI:10.1136/jmedgenet-2016-104107
 PMID:30528822
 著者        Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, Bu D, Cao X, Hwang S, Yang Y, Zheng J, Lin Z
 タイトル      Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.
 雑誌        J Invest Dermatol 139:1089-1097 (2019)
 DOI:10.1016/j.jid.2018.10.044
 PMID:30321533
 著者        Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
 タイトル      Mutations in PERP Cause Dominant and Recessive Keratoderma.
 雑誌        J Invest Dermatol 139:380-390 (2019)
 DOI:10.1016/j.jid.2018.08.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00710"">H00710</a>",変異性紅斑角皮症,"Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by mutations in GJB3, GJB4, and GJA1, the genes encoding for connexin channels proteins in the epidermis.",,"(EKVP1) GJB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2707"">2707</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07622"">K07622</a>]
 (EKVP2) GJB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:127534"">127534</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07623"">K07623</a>]
 (EKVP3) GJA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2697"">2697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07372"">K07372</a>]
 (EKVP4) KDSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2531"">2531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04708"">K04708</a>]
 (EKVP5) KRT83 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3889"">3889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (EKVP6) TRPM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54795"">54795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04979"">K04979</a>]
 (EKVP7) PERP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64065"">64065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10136"">K10136</a>]",,,,,,"ICD-11: EC20.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056266"">D056266</a>
 OMIM: <a href=""https://www.omim.org/entry/133200"">133200</a> <a href=""https://www.omim.org/entry/617524"">617524</a> <a href=""https://www.omim.org/entry/617525"">617525</a> <a href=""https://www.omim.org/entry/617526"">617526</a> <a href=""https://www.omim.org/entry/617756"">617756</a> <a href=""https://www.omim.org/entry/618531"">618531</a> <a href=""https://www.omim.org/entry/619209"">619209</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8747585"">8747585</a>
 著者        Hendrix JD Jr, Greer KE
 タイトル      Erythrokeratodermia variabilis present at birth: case report and review of the literature.
 雑誌        Pediatr Dermatol 12:351-4 (1995)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.1995.tb00200.x"">10.1111/j.1525-1470.1995.tb00200.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9784050"">9784050</a>
 著者        Papadavid E, Koumantaki E, Dawber RP
 タイトル      Erythrokeratoderma variabilis: case report and review of the literature.
 雑誌        J Eur Acad Dermatol Venereol 11:180-3 (1998)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.1998.tb00777.x"">10.1111/j.1468-3083.1998.tb00777.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9843209"">9843209</a>
 著者        Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
 タイトル      Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
 雑誌        Nat Genet 20:366-9 (1998)
 DOI:<a href=""https://doi.org/10.1038/3840"">10.1038/3840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12648223"">12648223</a>
 著者        Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
 タイトル      Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
 雑誌        J Invest Dermatol 120:601-9 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2003.12080.x"">10.1046/j.1523-1747.2003.12080.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25398053"">25398053</a>
 著者        Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA
 タイトル      Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 雑誌        J Invest Dermatol 135:1540-1547 (2015)
 DOI:<a href=""https://doi.org/10.1038/jid.2014.485"">10.1038/jid.2014.485</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28575652"">28575652</a>
 著者        Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA
 タイトル      Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
 雑誌        Am J Hum Genet 100:978-984 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.003"">10.1016/j.ajhg.2017.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27965375"">27965375</a>
 著者        Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA
 タイトル      Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
 雑誌        J Med Genet 54:186-189 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104107"">10.1136/jmedgenet-2016-104107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30528822"">30528822</a>
 著者        Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, Bu D, Cao X, Hwang S, Yang Y, Zheng J, Lin Z
 タイトル      Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.
 雑誌        J Invest Dermatol 139:1089-1097 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2018.10.044"">10.1016/j.jid.2018.10.044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30321533"">30321533</a>
 著者        Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
 タイトル      Mutations in PERP Cause Dominant and Recessive Keratoderma.
 雑誌        J Invest Dermatol 139:380-390 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2018.08.026"">10.1016/j.jid.2018.08.026</a>"
H00711,ラッセル・シルバー症候群,,,"Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes.",先天奇形,,"(SRS3) IGF2 [HSA:3481] [KO:K13769]
 (SRS4) PLAG1 [HSA:5324] [KO:K19484]
 (SRS5) HMGA2 [HSA:8091] [KO:K09283]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: D056730
 OMIM: 180860 618905 616489 618907 618908","PMID:19407494
 著者        Eggermann T
 タイトル      Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
 雑誌        Horm Res 71 Suppl 2:30-5 (2009)
 DOI:10.1159/000192433
 PMID:20573229
 著者        Eggermann T, Begemann M, Binder G, Spengler S
 タイトル      Silver-Russell syndrome: genetic basis and molecular genetic testing.
 雑誌        Orphanet J Rare Dis 5:19 (2010)
 DOI:10.1186/1750-1172-5-19
 PMID:20803658
 著者        Eggermann T
 タイトル      Russell-Silver syndrome.
 雑誌        Am J Med Genet C Semin Med Genet 154C:355-64 (2010)
 DOI:10.1002/ajmg.c.30274
 PMID:21282187 (IGF2)
 著者        Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
 タイトル      Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
 雑誌        Hum Mol Genet 20:1363-74 (2011)
 DOI:10.1093/hmg/ddr018
 PMID:33291420 (PLAG1)
 著者        Vado Y, Pereda A, Llano-Rivas I, Gorria-Redondo N, Diez I, Perez de Nanclares G
 タイトル      Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.
 雑誌        Genes (Basel) 11:E1461 (2020)
 DOI:10.3390/genes11121461
 PMID:25809938 (HMGA2)
 著者        De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A
 タイトル      A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
 雑誌        J Hum Genet 60:287-93 (2015)
 DOI:10.1038/jhg.2015.29","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00711"">H00711</a>",ラッセル・シルバー症候群,"Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes.",,"(SRS3) IGF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3481"">3481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13769"">K13769</a>]
 (SRS4) PLAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5324"">5324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19484"">K19484</a>]
 (SRS5) HMGA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8091"">8091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09283"">K09283</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056730"">D056730</a>
 OMIM: <a href=""https://www.omim.org/entry/180860"">180860</a> <a href=""https://www.omim.org/entry/618905"">618905</a> <a href=""https://www.omim.org/entry/616489"">616489</a> <a href=""https://www.omim.org/entry/618907"">618907</a> <a href=""https://www.omim.org/entry/618908"">618908</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19407494"">19407494</a>
 著者        Eggermann T
 タイトル      Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
 雑誌        Horm Res 71 Suppl 2:30-5 (2009)
 DOI:<a href=""https://doi.org/10.1159/000192433"">10.1159/000192433</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20573229"">20573229</a>
 著者        Eggermann T, Begemann M, Binder G, Spengler S
 タイトル      Silver-Russell syndrome: genetic basis and molecular genetic testing.
 雑誌        Orphanet J Rare Dis 5:19 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-19"">10.1186/1750-1172-5-19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20803658"">20803658</a>
 著者        Eggermann T
 タイトル      Russell-Silver syndrome.
 雑誌        Am J Med Genet C Semin Med Genet 154C:355-64 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30274"">10.1002/ajmg.c.30274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21282187"">21282187</a> (IGF2)
 著者        Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
 タイトル      Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
 雑誌        Hum Mol Genet 20:1363-74 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr018"">10.1093/hmg/ddr018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33291420"">33291420</a> (PLAG1)
 著者        Vado Y, Pereda A, Llano-Rivas I, Gorria-Redondo N, Diez I, Perez de Nanclares G
 タイトル      Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.
 雑誌        Genes (Basel) 11:E1461 (2020)
 DOI:<a href=""https://doi.org/10.3390/genes11121461"">10.3390/genes11121461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25809938"">25809938</a> (HMGA2)
 著者        De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A
 タイトル      A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
 雑誌        J Hum Genet 60:287-93 (2015)
 DOI:<a href=""https://doi.org/10.1038/jhg.2015.29"">10.1038/jhg.2015.29</a>"
H00712,"KID/HID 症候群
 下位グループ    常染色体優性遺伝性角膜炎・魚鱗癬・難聴症候群 (KIDAD)
 常染色体劣性遺伝性角膜炎・魚鱗癬・難聴症候群 (KIDAR)
 豪猪状魚鱗癬・難聴症候群 (HID)",,,"Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1.",先天奇形,,"(KIDAD/HID) GJB2 [HSA:2706] [KO:K07621]
 (KIDAR) AP1B1 [HSA:162] [KO:K12392]",,,,,,"ICD-11: LD27.2
 ICD-10: Q80.8
 MeSH: C580224
 OMIM: 148210 602540 242150","PMID:17381453
 著者        Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A
 タイトル      Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
 雑誌        Br J Dermatol 156:1015-9 (2007)
 DOI:10.1111/j.1365-2133.2007.07806.x
 PMID:9122065
 著者        Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
 タイトル      Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
 雑誌        Pediatr Dermatol 13:105-13 (1996)
 DOI:10.1111/j.1525-1470.1996.tb01414.x
 PMID:2191710
 著者        Langer K, Konrad K, Wolff K
 タイトル      Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.
 雑誌        Br J Dermatol 122:689-97 (1990)
 DOI:10.1111/j.1365-2133.1990.tb07292.x
 PMID:16679758
 著者        Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A
 タイトル      Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
 雑誌        Audiol Neurootol 11:242-8 (2006)
 DOI:10.1159/000093110
 PMID:31630791
 著者        Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS
 タイトル      Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
 雑誌        Am J Hum Genet 105:1016-1022 (2019)
 DOI:10.1016/j.ajhg.2019.09.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00712"">H00712</a>","KID/HID 症候群
 下位グループ    常染色体優性遺伝性角膜炎・魚鱗癬・難聴症候群 (KIDAD)
 常染色体劣性遺伝性角膜炎・魚鱗癬・難聴症候群 (KIDAR)
 豪猪状魚鱗癬・難聴症候群 (HID)","Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1.",,"(KIDAD/HID) GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]
 (KIDAR) AP1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:162"">162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12392"">K12392</a>]",,,,,,"ICD-11: LD27.2
 ICD-10: Q80.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580224"">C580224</a>
 OMIM: <a href=""https://www.omim.org/entry/148210"">148210</a> <a href=""https://www.omim.org/entry/602540"">602540</a> <a href=""https://www.omim.org/entry/242150"">242150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17381453"">17381453</a>
 著者        Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A
 タイトル      Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
 雑誌        Br J Dermatol 156:1015-9 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2007.07806.x"">10.1111/j.1365-2133.2007.07806.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9122065"">9122065</a>
 著者        Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
 タイトル      Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
 雑誌        Pediatr Dermatol 13:105-13 (1996)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.1996.tb01414.x"">10.1111/j.1525-1470.1996.tb01414.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2191710"">2191710</a>
 著者        Langer K, Konrad K, Wolff K
 タイトル      Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.
 雑誌        Br J Dermatol 122:689-97 (1990)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.1990.tb07292.x"">10.1111/j.1365-2133.1990.tb07292.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16679758"">16679758</a>
 著者        Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A
 タイトル      Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
 雑誌        Audiol Neurootol 11:242-8 (2006)
 DOI:<a href=""https://doi.org/10.1159/000093110"">10.1159/000093110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31630791"">31630791</a>
 著者        Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS
 タイトル      Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
 雑誌        Am J Hum Genet 105:1016-1022 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.020"">10.1016/j.ajhg.2019.09.020</a>"
H00713,ベックウィズ・ウイーデマン症候群,,,"Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15. The imprinted region 11p15 is separated into two domains, with each domain regulated by a functionally independent imprinting control regions (ICR). The centromeric ICR2 regulates the expression of CDKN1C, KCNQ1, and further genes. The majority of cases of BWS show hypomethylation in the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization of the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations.",先天奇形,,"CDKN1C [HSA:1028] [KO:K09993]
 IGF2 [HSA:3481] [KO:K13769]
 KCNQ1 [HSA:3784] [KO:K04926]",,,,,BWS and the growth retardation disorder Russell-Silver syndrome [DS:H00713] present two genetically and clinically opposite clinical pictures.,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: D001506
 OMIM: 130650","PMID:20803657
 著者        Choufani S, Shuman C, Weksberg R
 タイトル      Beckwith-Wiedemann syndrome.
 雑誌        Am J Med Genet C Semin Med Genet 154C:343-54 (2010)
 DOI:10.1002/ajmg.c.30267
 PMID:12668598
 著者        Weksberg R, Smith AC, Squire J, Sadowski P
 タイトル      Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
 雑誌        Hum Mol Genet 12 Spec No 1:R61-8 (2003)
 DOI:10.1093/hmg/ddg067
 PMID:19407494
 著者        Eggermann T
 タイトル      Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
 雑誌        Horm Res 71 Suppl 2:30-5 (2009)
 DOI:10.1159/000192433
 PMID:21282187
 著者        Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
 タイトル      Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
 雑誌        Hum Mol Genet 20:1363-74 (2011)
 DOI:10.1093/hmg/ddr018
 PMID:14997421
 著者        Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
 タイトル      Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
 雑誌        Am J Hum Genet 74:715-20 (2004)
 DOI:10.1086/383093","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00713"">H00713</a>",ベックウィズ・ウイーデマン症候群,"Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15. The imprinted region 11p15 is separated into two domains, with each domain regulated by a functionally independent imprinting control regions (ICR). The centromeric ICR2 regulates the expression of CDKN1C, KCNQ1, and further genes. The majority of cases of BWS show hypomethylation in the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization of the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations.",,"CDKN1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1028"">1028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09993"">K09993</a>]
 IGF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3481"">3481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13769"">K13769</a>]
 KCNQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]",,,,,"BWS and the growth retardation disorder Russell-Silver syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00713"">H00713</a>] present two genetically and clinically opposite clinical pictures.","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001506"">D001506</a>
 OMIM: <a href=""https://www.omim.org/entry/130650"">130650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20803657"">20803657</a>
 著者        Choufani S, Shuman C, Weksberg R
 タイトル      Beckwith-Wiedemann syndrome.
 雑誌        Am J Med Genet C Semin Med Genet 154C:343-54 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30267"">10.1002/ajmg.c.30267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12668598"">12668598</a>
 著者        Weksberg R, Smith AC, Squire J, Sadowski P
 タイトル      Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
 雑誌        Hum Mol Genet 12 Spec No 1:R61-8 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg067"">10.1093/hmg/ddg067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19407494"">19407494</a>
 著者        Eggermann T
 タイトル      Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
 雑誌        Horm Res 71 Suppl 2:30-5 (2009)
 DOI:<a href=""https://doi.org/10.1159/000192433"">10.1159/000192433</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21282187"">21282187</a>
 著者        Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
 タイトル      Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
 雑誌        Hum Mol Genet 20:1363-74 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr018"">10.1093/hmg/ddr018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14997421"">14997421</a>
 著者        Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
 タイトル      Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
 雑誌        Am J Hum Genet 74:715-20 (2004)
 DOI:<a href=""https://doi.org/10.1086/383093"">10.1086/383093</a>"
H00714,"フォーヴィンケル症候群
 下位グループ    異型フォーヴィンケル症候群",,,"Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading to autoamputation (pseudoainhum). Vohwinkel syndrome is caused by GJB2 mutations, and its variant that is linked to loricrin also has a feature of ichthyosis.",先天奇形,,"GJB2 [HSA:2706] [KO:K07621]
 (variant form) LORICRIN [HSA:4014] [KO:K10385]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: C536457
 OMIM: 124500 604117","PMID:19939300 (GJB2)
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:10.1017/S1462399409001276
 PMID:10369869 (GJB2)
 著者        Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS
 タイトル      A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
 雑誌        Hum Mol Genet 8:1237-43 (1999)
 DOI:10.1093/hmg/8.7.1237
 PMID:9326398 (Loricrin)
 著者        Korge BP, Ishida-Yamamoto A, Punter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, Eady RA, Munro CS
 タイトル      Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
 雑誌        J Invest Dermatol 109:604-10 (1997)
 DOI:10.1111/1523-1747.ep12337534
 PMID:12615358 (Loricrin)
 著者        Ishida-Yamamoto A
 タイトル      Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
 雑誌        J Dermatol Sci 31:3-8 (2003)
 DOI:10.1016/S0923-1811(02)00143-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00714"">H00714</a>","フォーヴィンケル症候群
 下位グループ    異型フォーヴィンケル症候群","Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading to autoamputation (pseudoainhum). Vohwinkel syndrome is caused by GJB2 mutations, and its variant that is linked to loricrin also has a feature of ichthyosis.",,"GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]
 (variant form) LORICRIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4014"">4014</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10385"">K10385</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536457"">C536457</a>
 OMIM: <a href=""https://www.omim.org/entry/124500"">124500</a> <a href=""https://www.omim.org/entry/604117"">604117</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19939300"">19939300</a> (GJB2)
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:<a href=""https://doi.org/10.1017/S1462399409001276"">10.1017/S1462399409001276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10369869"">10369869</a> (GJB2)
 著者        Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS
 タイトル      A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
 雑誌        Hum Mol Genet 8:1237-43 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.7.1237"">10.1093/hmg/8.7.1237</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9326398"">9326398</a> (Loricrin)
 著者        Korge BP, Ishida-Yamamoto A, Punter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, Eady RA, Munro CS
 タイトル      Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
 雑誌        J Invest Dermatol 109:604-10 (1997)
 DOI:<a href=""https://doi.org/10.1111/1523-1747.ep12337534"">10.1111/1523-1747.ep12337534</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12615358"">12615358</a> (Loricrin)
 著者        Ishida-Yamamoto A
 タイトル      Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
 雑誌        J Dermatol Sci 31:3-8 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0923-1811(02)00143-3"">10.1016/S0923-1811(02)00143-3</a>"
H00715,"ダリエー病;
 毛包性角化異常症",,,"Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis.",先天奇形,,ATP2A2 [HSA:488] [KO:K05853],,,,"サリチル酸 [DR:D00097]
 エトレチナート [DR:D00316]",,"ICD-11: EC20.2
 ICD-10: Q82.8
 MeSH: D007644
 OMIM: 124200","PMID:21167218
 著者        Savignac M, Edir A, Simon M, Hovnanian A
 タイトル      Darier disease : a disease model of impaired calcium homeostasis in the skin.
 雑誌        Biochim Biophys Acta 1813:1111-7 (2011)
 DOI:10.1016/j.bbamcr.2010.12.006
 PMID:15649206
 著者        Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR
 タイトル      Dyskeratosis follicularis disease: case reports and review of the literature.
 雑誌        J Eur Acad Dermatol Venereol 19:114-7 (2005)
 DOI:10.1111/j.1468-3083.2004.01096.x
 PMID:15468148
 著者        Foggia L, Hovnanian A
 タイトル      Calcium pump disorders of the skin.
 雑誌        Am J Med Genet C Semin Med Genet 131C:20-31 (2004)
 DOI:10.1002/ajmg.c.30031
 PMID:28507500
 著者        Tomaszewska KA, Gerlicz-Kowalczuk Z, Kregiel M, Noweta M, Pluzanka-Srebrzynska K, Zuchowska A, Kaszuba A
 タイトル      The coexistence of Darier's disease and Hailey-Hailey disease symptoms.
 雑誌        Postepy Dermatol Alergol 34:180-183 (2017)
 DOI:10.5114/ada.2017.67087","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00715"">H00715</a>","ダリエー病;
 毛包性角化異常症","Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00844"">H00844</a>] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis.",,"ATP2A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:488"">488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05853"">K05853</a>]",,,,"サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]",,"ICD-11: EC20.2
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007644"">D007644</a>
 OMIM: <a href=""https://www.omim.org/entry/124200"">124200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21167218"">21167218</a>
 著者        Savignac M, Edir A, Simon M, Hovnanian A
 タイトル      Darier disease : a disease model of impaired calcium homeostasis in the skin.
 雑誌        Biochim Biophys Acta 1813:1111-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2010.12.006"">10.1016/j.bbamcr.2010.12.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15649206"">15649206</a>
 著者        Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR
 タイトル      Dyskeratosis follicularis disease: case reports and review of the literature.
 雑誌        J Eur Acad Dermatol Venereol 19:114-7 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2004.01096.x"">10.1111/j.1468-3083.2004.01096.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15468148"">15468148</a>
 著者        Foggia L, Hovnanian A
 タイトル      Calcium pump disorders of the skin.
 雑誌        Am J Med Genet C Semin Med Genet 131C:20-31 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30031"">10.1002/ajmg.c.30031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28507500"">28507500</a>
 著者        Tomaszewska KA, Gerlicz-Kowalczuk Z, Kregiel M, Noweta M, Pluzanka-Srebrzynska K, Zuchowska A, Kaszuba A
 タイトル      The coexistence of Darier's disease and Hailey-Hailey disease symptoms.
 雑誌        Postepy Dermatol Alergol 34:180-183 (2017)
 DOI:<a href=""https://doi.org/10.5114/ada.2017.67087"">10.5114/ada.2017.67087</a>"
H00716,"難聴を伴う掌蹠角化症
 上位グループ    掌蹠角化症 [DS:H01673]",,,Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.,先天奇形,,GJB2 [HSA:2706] [KO:K07621],,,,,"Vohwinkel syndrome and Bart-Pumphrey syndrome are described in H00714 and H00706, respectively.","ICD-11: EC20.3
 ICD-10: Q82.8
 MeSH: C580359
 OMIM: 148350","PMID:19939300
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:10.1017/S1462399409001276
 PMID:17428836
 著者        Gerido DA, DeRosa AM, Richard G, White TW
 タイトル      Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
 雑誌        Am J Physiol Cell Physiol 293:C337-45 (2007)
 DOI:10.1152/ajpcell.00626.2006
 PMID:17993581
 著者        de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA
 タイトル      A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
 雑誌        J Med Genet 45:161-6 (2008)
 DOI:10.1136/jmg.2007.052332
 PMID:20583176
 著者        Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S
 タイトル      Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
 雑誌        Am J Med Genet A 152A:1798-802 (2010)
 DOI:10.1002/ajmg.a.33464
 PMID:20890442
 著者        Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC
 タイトル      Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
 雑誌        J Korean Med Sci 25:1539-42 (2010)
 DOI:10.3346/jkms.2010.25.10.1539","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00716"">H00716</a>","難聴を伴う掌蹠角化症
 上位グループ    掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]",Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.,,"GJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2706"">2706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07621"">K07621</a>]",,,,,"Vohwinkel syndrome and Bart-Pumphrey syndrome are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00714"">H00714</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00706,"">H00706,</a> respectively.","ICD-11: EC20.3
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580359"">C580359</a>
 OMIM: <a href=""https://www.omim.org/entry/148350"">148350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19939300"">19939300</a>
 著者        Lee JR, White TW
 タイトル      Connexin-26 mutations in deafness and skin disease.
 雑誌        Expert Rev Mol Med 11:e35 (2009)
 DOI:<a href=""https://doi.org/10.1017/S1462399409001276"">10.1017/S1462399409001276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17428836"">17428836</a>
 著者        Gerido DA, DeRosa AM, Richard G, White TW
 タイトル      Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
 雑誌        Am J Physiol Cell Physiol 293:C337-45 (2007)
 DOI:<a href=""https://doi.org/10.1152/ajpcell.00626.2006"">10.1152/ajpcell.00626.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17993581"">17993581</a>
 著者        de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA
 タイトル      A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
 雑誌        J Med Genet 45:161-6 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052332"">10.1136/jmg.2007.052332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20583176"">20583176</a>
 著者        Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S
 タイトル      Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
 雑誌        Am J Med Genet A 152A:1798-802 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33464"">10.1002/ajmg.a.33464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20890442"">20890442</a>
 著者        Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC
 タイトル      Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
 雑誌        J Korean Med Sci 25:1539-42 (2010)
 DOI:<a href=""https://doi.org/10.3346/jkms.2010.25.10.1539"">10.3346/jkms.2010.25.10.1539</a>"
H00717,"線状掌蹠角化症
 上位グループ    掌蹠角化症 [DS:H01673]",,,"Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1).",先天奇形,,"(type I) DSG1 [HSA:1828] [KO:K07596]
 (type II) DSP [HSA:1832] [KO:K10381]
 (type III) KRT1 [HSA:3848] [KO:K07605]",,,,,,"ICD-11: EC20.31
 ICD-10: Q82.8
 MeSH: C536162 C565102 C536163
 OMIM: 148700 612908 607654","PMID:20883380
 著者        Kawai K, Fukushige T, Sakanoue M, Kanekura T
 タイトル      Striate palmoplantar keratoderma.
 雑誌        J Dermatol 37:854-6 (2010)
 DOI:10.1111/j.1346-8138.2010.00874.x
 PMID:18627762
 著者        Bragg J, Rizzo C, Mengden S
 タイトル      Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome).
 雑誌        Dermatol Online J 14:26 (2008)
 PMID:19558595
 著者        Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS
 タイトル      Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.
 雑誌        Br J Dermatol 161:692-4 (2009)
 DOI:10.1111/j.1365-2133.2009.09316.x
 PMID:17194569
 著者        Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM
 タイトル      Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
 雑誌        J Dermatol Sci 45:161-6 (2007)
 DOI:10.1016/j.jdermsci.2006.11.013
 PMID:11982762
 著者        Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA
 タイトル      Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
 雑誌        J Invest Dermatol 118:838-44 (2002)
 DOI:10.1046/j.1523-1747.2002.01750.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00717"">H00717</a>","線状掌蹠角化症
 上位グループ    掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1).",,"(type I) DSG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1828"">1828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07596"">K07596</a>]
 (type II) DSP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1832"">1832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10381"">K10381</a>]
 (type III) KRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3848"">3848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: EC20.31
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536162"">C536162</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565102"">C565102</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536163"">C536163</a>
 OMIM: <a href=""https://www.omim.org/entry/148700"">148700</a> <a href=""https://www.omim.org/entry/612908"">612908</a> <a href=""https://www.omim.org/entry/607654"">607654</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20883380"">20883380</a>
 著者        Kawai K, Fukushige T, Sakanoue M, Kanekura T
 タイトル      Striate palmoplantar keratoderma.
 雑誌        J Dermatol 37:854-6 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2010.00874.x"">10.1111/j.1346-8138.2010.00874.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18627762"">18627762</a>
 著者        Bragg J, Rizzo C, Mengden S
 タイトル      Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome).
 雑誌        Dermatol Online J 14:26 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19558595"">19558595</a>
 著者        Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS
 タイトル      Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.
 雑誌        Br J Dermatol 161:692-4 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2009.09316.x"">10.1111/j.1365-2133.2009.09316.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17194569"">17194569</a>
 著者        Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM
 タイトル      Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
 雑誌        J Dermatol Sci 45:161-6 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2006.11.013"">10.1016/j.jdermsci.2006.11.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11982762"">11982762</a>
 著者        Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA
 タイトル      Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
 雑誌        J Invest Dermatol 118:838-44 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2002.01750.x"">10.1046/j.1523-1747.2002.01750.x</a>"
H00718,ソトス症候群,,,"Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders.",先天奇形,,"(SOTOS1) NSD1 [HSA:64324] [KO:K15588]
 (SOTOS2) NFIX [HSA:4784] [KO:K09171]
 (SOTOS3) APC2 [HSA:10297] [KO:K02085]",,,,,"Beckwith-Wiedemann syndrome [DS:H00713] is a distinct overgrowth condition, and a few cases could be related to NSD1 deletions or mutations.
 See also H01751 Weaver syndrome.","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: D058495
 OMIM: 117550 614753 617169","PMID:12807965
 著者        Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V
 タイトル      Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
 雑誌        J Med Genet 40:436-40 (2003)
 DOI:10.1136/jmg.40.6.436
 PMID:12464997
 著者        Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N
 タイトル      NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
 雑誌        Am J Hum Genet 72:132-43 (2003)
 DOI:10.1086/345647
 PMID:14997421
 著者        Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
 タイトル      Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
 雑誌        Am J Hum Genet 74:715-20 (2004)
 DOI:10.1086/383093
 PMID:26927468
 著者        Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M
 タイトル      Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 160:161-7 (2016)
 DOI:10.5507/bp.2016.006
 PMID:25753423
 著者        Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M
 タイトル      Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
 雑誌        Cell Rep 10:1585-1598 (2015)
 DOI:10.1016/j.celrep.2015.02.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00718"">H00718</a>",ソトス症候群,"Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders.",,"(SOTOS1) NSD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64324"">64324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15588"">K15588</a>]
 (SOTOS2) NFIX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4784"">4784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09171"">K09171</a>]
 (SOTOS3) APC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10297"">10297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]",,,,,"Beckwith-Wiedemann syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00713"">H00713</a>] is a distinct overgrowth condition, and a few cases could be related to NSD1 deletions or mutations.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01751"">H01751</a> Weaver syndrome.","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058495"">D058495</a>
 OMIM: <a href=""https://www.omim.org/entry/117550"">117550</a> <a href=""https://www.omim.org/entry/614753"">614753</a> <a href=""https://www.omim.org/entry/617169"">617169</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12807965"">12807965</a>
 著者        Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V
 タイトル      Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
 雑誌        J Med Genet 40:436-40 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.6.436"">10.1136/jmg.40.6.436</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12464997"">12464997</a>
 著者        Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N
 タイトル      NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
 雑誌        Am J Hum Genet 72:132-43 (2003)
 DOI:<a href=""https://doi.org/10.1086/345647"">10.1086/345647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14997421"">14997421</a>
 著者        Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
 タイトル      Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
 雑誌        Am J Hum Genet 74:715-20 (2004)
 DOI:<a href=""https://doi.org/10.1086/383093"">10.1086/383093</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26927468"">26927468</a>
 著者        Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M
 タイトル      Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 160:161-7 (2016)
 DOI:<a href=""https://doi.org/10.5507/bp.2016.006"">10.5507/bp.2016.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25753423"">25753423</a>
 著者        Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M
 タイトル      Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
 雑誌        Cell Rep 10:1585-1598 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.celrep.2015.02.011"">10.1016/j.celrep.2015.02.011</a>"
H00719,妖精症,,,"Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.",内分泌代謝疾患,,INSR [HSA:3643] [KO:K04527],,,,メカセルミン [DR:D03297],,"ICD-11: 5A44
 ICD-10: E34.8
 MeSH: D056731
 OMIM: 246200","PMID:9128805
 著者        Kosztolanyi G
 タイトル      Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
 雑誌        Eur J Pediatr 156:253-5 (1997)
 DOI:10.1007/s004310050594
 PMID:9703342
 著者        Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S
 タイトル      Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
 雑誌        Diabetes 47:1362-4 (1998)
 DOI:10.2337/diab.47.8.1362","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00719"">H00719</a>",妖精症,"Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.",,"INSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3643"">3643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04527"">K04527</a>]",,,,"メカセルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03297"">D03297</a>]",,"ICD-11: 5A44
 ICD-10: E34.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056731"">D056731</a>
 OMIM: <a href=""https://www.omim.org/entry/246200"">246200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9128805"">9128805</a>
 著者        Kosztolanyi G
 タイトル      Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
 雑誌        Eur J Pediatr 156:253-5 (1997)
 DOI:<a href=""https://doi.org/10.1007/s004310050594"">10.1007/s004310050594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9703342"">9703342</a>
 著者        Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S
 タイトル      Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
 雑誌        Diabetes 47:1362-4 (1998)
 DOI:<a href=""https://doi.org/10.2337/diab.47.8.1362"">10.2337/diab.47.8.1362</a>"
H00720,"QT 延長症候群
 下位グループ    ロマノワード症候群
 ジャーベル・ランゲ・ニールセン症候群 [DS:H02091]
 Timothy 症候群",,,"Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome is characterized by an autosomal-dominant inheritance without familial deafness. The Jervell and Lange-Nielsen syndrome (JLNS) has an autosomal-recessive pattern of inheritance and is associated with deafness.",循環器疾患,,"(LQT1) KCNQ1 [HSA:3784] [KO:K04926]
 (LQT2) KCNH2 [HSA:3757] [KO:K04905]
 (LQT3) SCN5A [HSA:6331] [KO:K04838]
 (LQT4) ANK2 [HSA:287] [KO:K10380]
 (LQT5) KCNE1 [HSA:3753] [KO:K04894]
 (LQT6) KCNE2 [HSA:9992] [KO:K04896]
 (LQT7) KCNJ2 [HSA:3759] [KO:K04996]
 (LQT8) CACNA1C [HSA:775] [KO:K04850]
 (LQT9) CAV3 [HSA:859] [KO:K12959]
 (LQT10) SCN4B [HSA:6330] [KO:K04848]
 (LQT11) AKAP9 [HSA:10142] [KO:K16551]
 (LQT12) SNTA1 [HSA:6640] [KO:K24063]
 (LQT13) KCNJ5 [HSA:3762] [KO:K04999]
 (LQT14) CALM1 [HSA:801] [KO:K02183]
 (LQT15) CALM2 [HSA:805] [KO:K02183]
 (LQT16) CALM3 [HSA:808] [KO:K02183]",,"Sevoflurane [CPD:C07520]
 Isoflurane [CPD:C07518]
 Desflurane [CPD:C07519]",,,,"ICD-11: BC65.0
 ICD-10: I45.81
 OMIM: 192500 613688 603830 600919 613695 613693 170390 618447 601005 611818 611819 611820 612955 613485 220400 616247 616249 612347 618782","PMID:21286418
 著者        Kim HT, Lee JH, Park IB, Heo HE, Kim TY, Lee MJ
 タイトル      Long QT syndrome provoked by induction of general anesthesia -A case report-.
 雑誌        Korean J Anesthesiol 59 Suppl:S114-8 (2010)
 DOI:10.4097/kjae.2010.59.S.S114
 PMID:19026859
 著者        Zareba W, Cygankiewicz I
 タイトル      Long QT syndrome and short QT syndrome.
 雑誌        Prog Cardiovasc Dis 51:264-78 (2008)
 DOI:10.1016/j.pcad.2008.10.006
 PMID:17498019 (environmental factor)
 著者        Aypar E, Karagoz AH, Ozer S, Celiker A, Ocal T
 タイトル      The effects of sevoflurane and desflurane anesthesia on QTc interval and cardiac rhythm in children.
 雑誌        Paediatr Anaesth 17:563-7 (2007)
 DOI:10.1111/j.1460-9592.2006.02152.x
 PMID:16409532
 著者        Saussine M, Massad I, Raczka F, Davy JM, Frapier JM
 タイトル      Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome.
 雑誌        Paediatr Anaesth 16:63-5 (2006)
 DOI:10.1111/j.1460-9592.2005.01593.x
 PMID:10593671
 著者        Ilhan A, Tuncer C, Komsuoglu SS, Kali S
 タイトル      Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation.
 雑誌        Pediatr Neurol 21:809-13 (1999)
 DOI:10.1016/S0887-8994(99)00100-9
 PMID:23388215
 著者        Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kaab S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr
 タイトル      Calmodulin mutations associated with recurrent cardiac arrest in infants.
 雑誌        Circulation 127:1009-17 (2013)
 DOI:10.1161/CIRCULATIONAHA.112.001216
 PMID:26969752
 著者        Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ
 タイトル      Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
 雑誌        Circ Cardiovasc Genet 9:136-146 (2016)
 DOI:10.1161/CIRCGENETICS.115.001323","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00720"">H00720</a>","QT 延長症候群
 下位グループ    ロマノワード症候群
 ジャーベル・ランゲ・ニールセン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02091"">H02091</a>]
 Timothy 症候群","Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome is characterized by an autosomal-dominant inheritance without familial deafness. The Jervell and Lange-Nielsen syndrome (JLNS) has an autosomal-recessive pattern of inheritance and is associated with deafness.",,"(LQT1) KCNQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]
 (LQT2) KCNH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3757"">3757</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04905"">K04905</a>]
 (LQT3) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (LQT4) ANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:287"">287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10380"">K10380</a>]
 (LQT5) KCNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3753"">3753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04894"">K04894</a>]
 (LQT6) KCNE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9992"">9992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04896"">K04896</a>]
 (LQT7) KCNJ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3759"">3759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04996"">K04996</a>]
 (LQT8) CACNA1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:775"">775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04850"">K04850</a>]
 (LQT9) CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]
 (LQT10) SCN4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6330"">6330</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04848"">K04848</a>]
 (LQT11) AKAP9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10142"">10142</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16551"">K16551</a>]
 (LQT12) SNTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6640"">6640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24063"">K24063</a>]
 (LQT13) KCNJ5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3762"">3762</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04999"">K04999</a>]
 (LQT14) CALM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:801"">801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02183"">K02183</a>]
 (LQT15) CALM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:805"">805</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02183"">K02183</a>]
 (LQT16) CALM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:808"">808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02183"">K02183</a>]",,"Sevoflurane [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07520"">C07520</a>]
 Isoflurane [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07518"">C07518</a>]
 Desflurane [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07519"">C07519</a>]",,,,"ICD-11: BC65.0
 ICD-10: I45.81
 OMIM: <a href=""https://www.omim.org/entry/192500"">192500</a> <a href=""https://www.omim.org/entry/613688"">613688</a> <a href=""https://www.omim.org/entry/603830"">603830</a> <a href=""https://www.omim.org/entry/600919"">600919</a> <a href=""https://www.omim.org/entry/613695"">613695</a> <a href=""https://www.omim.org/entry/613693"">613693</a> <a href=""https://www.omim.org/entry/170390"">170390</a> <a href=""https://www.omim.org/entry/618447"">618447</a> <a href=""https://www.omim.org/entry/601005"">601005</a> <a href=""https://www.omim.org/entry/611818"">611818</a> <a href=""https://www.omim.org/entry/611819"">611819</a> <a href=""https://www.omim.org/entry/611820"">611820</a> <a href=""https://www.omim.org/entry/612955"">612955</a> <a href=""https://www.omim.org/entry/613485"">613485</a> <a href=""https://www.omim.org/entry/220400"">220400</a> <a href=""https://www.omim.org/entry/616247"">616247</a> <a href=""https://www.omim.org/entry/616249"">616249</a> <a href=""https://www.omim.org/entry/612347"">612347</a> <a href=""https://www.omim.org/entry/618782"">618782</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21286418"">21286418</a>
 著者        Kim HT, Lee JH, Park IB, Heo HE, Kim TY, Lee MJ
 タイトル      Long QT syndrome provoked by induction of general anesthesia -A case report-.
 雑誌        Korean J Anesthesiol 59 Suppl:S114-8 (2010)
 DOI:<a href=""https://doi.org/10.4097/kjae.2010.59.S.S114"">10.4097/kjae.2010.59.S.S114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19026859"">19026859</a>
 著者        Zareba W, Cygankiewicz I
 タイトル      Long QT syndrome and short QT syndrome.
 雑誌        Prog Cardiovasc Dis 51:264-78 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.pcad.2008.10.006"">10.1016/j.pcad.2008.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17498019"">17498019</a> (environmental <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Aypar E, Karagoz AH, Ozer S, Celiker A, Ocal T
 タイトル      The effects of sevoflurane and desflurane anesthesia on QTc interval and cardiac rhythm in children.
 雑誌        Paediatr Anaesth 17:563-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9592.2006.02152.x"">10.1111/j.1460-9592.2006.02152.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16409532"">16409532</a>
 著者        Saussine M, Massad I, Raczka F, Davy JM, Frapier JM
 タイトル      Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome.
 雑誌        Paediatr Anaesth 16:63-5 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9592.2005.01593.x"">10.1111/j.1460-9592.2005.01593.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10593671"">10593671</a>
 著者        Ilhan A, Tuncer C, Komsuoglu SS, Kali S
 タイトル      Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation.
 雑誌        Pediatr Neurol 21:809-13 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0887-8994(99)00100-9"">10.1016/S0887-8994(99)00100-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23388215"">23388215</a>
 著者        Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kaab S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr
 タイトル      Calmodulin mutations associated with recurrent cardiac arrest in infants.
 雑誌        Circulation 127:1009-17 (2013)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.112.001216"">10.1161/CIRCULATIONAHA.112.001216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26969752"">26969752</a>
 著者        Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ
 タイトル      Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
 雑誌        Circ Cardiovasc Genet 9:136-146 (2016)
 DOI:<a href=""https://doi.org/10.1161/CIRCGENETICS.115.001323"">10.1161/CIRCGENETICS.115.001323</a>"
H00721,"Pyogenic bacterial infections, recurrent, due to MYD88 deficiency",,,"Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes.",,,MYD88 [HSA:4615] [KO:K04729],,,,,,"ICD-11: 4A00.2
 MeSH: C567379
 OMIM: 612260","PMID:18669862
 著者        von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Arostegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yague J, Anton J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Marodi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL
 タイトル      Pyogenic bacterial infections in humans with MyD88 deficiency.
 雑誌        Science 321:691-6 (2008)
 DOI:10.1126/science.1158298
 PMID:21734245
 著者        Picard C, Casanova JL, Puel A
 タイトル      Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency.
 雑誌        Clin Microbiol Rev 24:490-7 (2011)
 DOI:10.1128/CMR.00001-11
 PMID:20236864
 著者        Bousfiha A, Picard C, Boisson-Dupuis S, Zhang SY, Bustamante J, Puel A, Jouanguy E, Ailal F, El-Baghdadi J, Abel L, Casanova JL
 タイトル      Primary immunodeficiencies of protective immunity to primary infections.
 雑誌        Clin Immunol 135:204-9 (2010)
 DOI:10.1016/j.clim.2010.02.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00721"">H00721</a>","Pyogenic bacterial infections, recurrent, due to MYD88 deficiency","Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes.",,"MYD88 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4615"">4615</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04729"">K04729</a>]",,,,,,"ICD-11: 4A00.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567379"">C567379</a>
 OMIM: <a href=""https://www.omim.org/entry/612260"">612260</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18669862"">18669862</a>
 著者        von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Arostegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yague J, Anton J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Marodi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL
 タイトル      Pyogenic bacterial infections in humans with MyD88 deficiency.
 雑誌        Science 321:691-6 (2008)
 DOI:<a href=""https://doi.org/10.1126/science.1158298"">10.1126/science.1158298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21734245"">21734245</a>
 著者        Picard C, Casanova JL, Puel A
 タイトル      Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency.
 雑誌        Clin Microbiol Rev 24:490-7 (2011)
 DOI:<a href=""https://doi.org/10.1128/CMR.00001-11"">10.1128/CMR.00001-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20236864"">20236864</a>
 著者        Bousfiha A, Picard C, Boisson-Dupuis S, Zhang SY, Bustamante J, Puel A, Jouanguy E, Ailal F, El-Baghdadi J, Abel L, Casanova JL
 タイトル      Primary immunodeficiencies of protective immunity to primary infections.
 雑誌        Clin Immunol 135:204-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2010.02.001"">10.1016/j.clim.2010.02.001</a>"
H00722,"表皮剥離性掌蹠角化症
 上位グループ    掌蹠角化症 [DS:H01673]",,,Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.,先天奇形,,"KRT9 [HSA:3857] [KO:K07604]
 KRT1 [HSA:3848] [KO:K07605]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: D053546
 OMIM: 144200","PMID:19341430
 著者        Braun-Falco M
 タイトル      Hereditary palmoplantar keratodermas.
 雑誌        J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009)
 DOI:10.1111/j.1610-0387.2009.07058.x
 PMID:12688839
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:10.2165/00128071-200304050-00005
 PMID:15538081 (KRT9)
 著者        Sehgal VN, Sardana K, Sharma S, Raut D
 タイトル      Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
 雑誌        Skinmed 3:323-30; quiz 331-2 (2004)
 DOI:10.1111/j.1540-9740.2004.03243.x
 PMID:1380725 (KRT1)
 著者        Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
 タイトル      Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
 雑誌        Science 257:1128-30 (1992)
 DOI:10.1126/science.257.5073.1128","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00722"">H00722</a>","表皮剥離性掌蹠角化症
 上位グループ    掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]",Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.,,"KRT9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3857"">3857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 KRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3848"">3848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053546"">D053546</a>
 OMIM: <a href=""https://www.omim.org/entry/144200"">144200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19341430"">19341430</a>
 著者        Braun-Falco M
 タイトル      Hereditary palmoplantar keratodermas.
 雑誌        J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1610-0387.2009.07058.x"">10.1111/j.1610-0387.2009.07058.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12688839"">12688839</a>
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:<a href=""https://doi.org/10.2165/00128071-200304050-00005"">10.2165/00128071-200304050-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15538081"">15538081</a> (KRT9)
 著者        Sehgal VN, Sardana K, Sharma S, Raut D
 タイトル      Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
 雑誌        Skinmed 3:323-30; quiz 331-2 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1540-9740.2004.03243.x"">10.1111/j.1540-9740.2004.03243.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1380725"">1380725</a> (KRT1)
 著者        Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
 タイトル      Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
 雑誌        Science 257:1128-30 (1992)
 DOI:<a href=""https://doi.org/10.1126/science.257.5073.1128"">10.1126/science.257.5073.1128</a>"
H00723,"非表皮剥離性掌蹠角化症
 下位グループ    非表皮剥離性焦点掌蹠角化症 [DS:H02263]
 掌蹠角化症・非表皮剥離性・焦点またはびまん型
 Bothnian 型掌蹠角化症 [DS:H02266]
 長島型掌蹠角化症 [DS:H02264]
 メレダ病 [DS:H00695]
 上位グループ    掌蹠角化症 [DS:H01673]",,,"Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on.",先天奇形,,"(NEPPK) KRT16 [HSA:3868] [KO:K07604]
 (PPKNEFD) KRT6C [HSA:286887] [KO:K07605]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: C563422
 OMIM: 600962 613000","PMID:12688839
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:10.2165/00128071-200304050-00005
 PMID:8595410
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:10.1093/hmg/4.10.1875
 PMID:26945534
 著者        Sakiyama T, Kubo A
 タイトル      Hereditary palmoplantar keratoderma ""clinical and genetic differential diagnosis"".
 雑誌        J Dermatol 43:264-74 (2016)
 DOI:10.1111/1346-8138.13219","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>","非表皮剥離性掌蹠角化症
 下位グループ    非表皮剥離性焦点掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02263"">H02263</a>]
 掌蹠角化症・非表皮剥離性・焦点またはびまん型
 Bothnian 型掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02266"">H02266</a>]
 長島型掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02264"">H02264</a>]
 メレダ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00695"">H00695</a>]
 上位グループ    掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on.",,"(NEPPK) KRT16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3868"">3868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 (PPKNEFD) KRT6C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286887"">286887</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563422"">C563422</a>
 OMIM: <a href=""https://www.omim.org/entry/600962"">600962</a> <a href=""https://www.omim.org/entry/613000"">613000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12688839"">12688839</a>
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:<a href=""https://doi.org/10.2165/00128071-200304050-00005"">10.2165/00128071-200304050-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8595410"">8595410</a>
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:<a href=""https://doi.org/10.1093/hmg/4.10.1875"">10.1093/hmg/4.10.1875</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26945534"">26945534</a>
 著者        Sakiyama T, Kubo A
 タイトル      Hereditary palmoplantar keratoderma ""clinical and genetic differential diagnosis"".
 雑誌        J Dermatol 43:264-74 (2016)
 DOI:<a href=""https://doi.org/10.1111/1346-8138.13219"">10.1111/1346-8138.13219</a>"
H00724,白色海綿状母斑,,,"White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated with the disease.",先天奇形,,"(WSN1) KRT4 [HSA:3851] [KO:K07605]
 (WSN2) KRT13 [HSA:3860] [KO:K07604]",,,,,,"ICD-11: DA02.0
 ICD-10: Q38.6
 MeSH: D053529
 OMIM: 193900 615785","PMID:12688839
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:10.2165/00128071-200304050-00005
 PMID:9028791
 著者        Corden LD, McLean WH
 タイトル      Human keratin diseases: hereditary fragility of specific epithelial tissues.
 雑誌        Exp Dermatol 5:297-307 (1996)
 DOI:10.1111/j.1600-0625.1996.tb00133.x
 PMID:7493030 (KRT4)
 著者        Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS
 タイトル      A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
 雑誌        Nat Genet 11:450-2 (1995)
 DOI:10.1038/ng1295-450
 PMID:7493031 (KRT13)
 著者        Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG
 タイトル      Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.
 雑誌        Nat Genet 11:453-5 (1995)
 DOI:10.1038/ng1295-453","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00724"">H00724</a>",白色海綿状母斑,"White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated with the disease.",,"(WSN1) KRT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3851"">3851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (WSN2) KRT13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3860"">3860</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: DA02.0
 ICD-10: Q38.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053529"">D053529</a>
 OMIM: <a href=""https://www.omim.org/entry/193900"">193900</a> <a href=""https://www.omim.org/entry/615785"">615785</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12688839"">12688839</a>
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:<a href=""https://doi.org/10.2165/00128071-200304050-00005"">10.2165/00128071-200304050-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9028791"">9028791</a>
 著者        Corden LD, McLean WH
 タイトル      Human keratin diseases: hereditary fragility of specific epithelial tissues.
 雑誌        Exp Dermatol 5:297-307 (1996)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.1996.tb00133.x"">10.1111/j.1600-0625.1996.tb00133.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493030"">7493030</a> (KRT4)
 著者        Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS
 タイトル      A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
 雑誌        Nat Genet 11:450-2 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-450"">10.1038/ng1295-450</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493031"">7493031</a> (KRT13)
 著者        Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG
 タイトル      Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.
 雑誌        Nat Genet 11:453-5 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-453"">10.1038/ng1295-453</a>"
H00725,QT短縮症候群,,,"Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central role in SQTS. SQTS is characterized by constantly short QT interval associated with atrial fibrillation, syncopal episodes, and sudden cardiac death. The implantable cardioverter defibrillator (ICD) therapy in patients with a short QT syndrome has an increased risk due to possible T wave oversensing.",心疾患,,"(SQTS1) KCNH2 [HSA:3757] [KO:K04905]
 (SQTS2) KCNQ1 [HSA:3784] [KO:K04926]
 (SQTS3) KCNJ2 [HSA:3759] [KO:K04996]",,,,,,"ICD-11: BC65.2
 OMIM: 609620 609621 609622","PMID:15890322
 著者        Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M
 タイトル      Short QT syndrome.
 雑誌        Cardiovasc Res 67:357-66 (2005)
 DOI:10.1016/j.cardiores.2005.03.026
 PMID:19026859
 著者        Zareba W, Cygankiewicz I
 タイトル      Long QT syndrome and short QT syndrome.
 雑誌        Prog Cardiovasc Dis 51:264-78 (2008)
 DOI:10.1016/j.pcad.2008.10.006
 PMID:20126594
 著者        Crotti L, Taravelli E, Girardengo G, Schwartz PJ
 タイトル      Congenital short QT syndrome.
 雑誌        Indian Pacing Electrophysiol J 10:86-95 (2010)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00725"">H00725</a>",QT短縮症候群,"Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central role in SQTS. SQTS is characterized by constantly short QT interval associated with atrial fibrillation, syncopal episodes, and sudden cardiac death. The implantable cardioverter defibrillator (ICD) therapy in patients with a short QT syndrome has an increased risk due to possible T wave oversensing.",,"(SQTS1) KCNH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3757"">3757</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04905"">K04905</a>]
 (SQTS2) KCNQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]
 (SQTS3) KCNJ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3759"">3759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04996"">K04996</a>]",,,,,,"ICD-11: BC65.2
 OMIM: <a href=""https://www.omim.org/entry/609620"">609620</a> <a href=""https://www.omim.org/entry/609621"">609621</a> <a href=""https://www.omim.org/entry/609622"">609622</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15890322"">15890322</a>
 著者        Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M
 タイトル      Short QT syndrome.
 雑誌        Cardiovasc Res 67:357-66 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.cardiores.2005.03.026"">10.1016/j.cardiores.2005.03.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19026859"">19026859</a>
 著者        Zareba W, Cygankiewicz I
 タイトル      Long QT syndrome and short QT syndrome.
 雑誌        Prog Cardiovasc Dis 51:264-78 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.pcad.2008.10.006"">10.1016/j.pcad.2008.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20126594"">20126594</a>
 著者        Crotti L, Taravelli E, Girardengo G, Schwartz PJ
 タイトル      Congenital short QT syndrome.
 雑誌        Indian Pacing Electrophysiol J 10:86-95 (2010)"
H00726,メースマン角膜上皮変性症,,,Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits.,神経系疾患,,"KRT3 [HSA:3850] [KO:K07605]
 KRT12 [HSA:3859] [KO:K07604]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: D053559
 OMIM: 122100","PMID:12688839
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:10.2165/00128071-200304050-00005
 PMID:17986293
 著者        Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Orntoft T
 タイトル      Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.
 雑誌        Acta Ophthalmol 86:40-4 (2008)
 DOI:10.1111/j.1600-0420.2007.00931.x
 PMID:18806880
 著者        Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, Ploski R, Szaflik J
 タイトル      Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
 雑誌        Mol Vis 14:1713-8 (2008)
 PMID:17653038
 著者        Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW
 タイトル      A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
 雑誌        Mol Vis 13:975-80 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00726"">H00726</a>",メースマン角膜上皮変性症,Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits.,,"KRT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3850"">3850</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3859"">3859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053559"">D053559</a>
 OMIM: <a href=""https://www.omim.org/entry/122100"">122100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12688839"">12688839</a>
 著者        Smith F
 タイトル      The molecular genetics of keratin disorders.
 雑誌        Am J Clin Dermatol 4:347-64 (2003)
 DOI:<a href=""https://doi.org/10.2165/00128071-200304050-00005"">10.2165/00128071-200304050-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17986293"">17986293</a>
 著者        Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Orntoft T
 タイトル      Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.
 雑誌        Acta Ophthalmol 86:40-4 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0420.2007.00931.x"">10.1111/j.1600-0420.2007.00931.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18806880"">18806880</a>
 著者        Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, Ploski R, Szaflik J
 タイトル      Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
 雑誌        Mol Vis 14:1713-8 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17653038"">17653038</a>
 著者        Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW
 タイトル      A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
 雑誌        Mol Vis 13:975-80 (2007)"
H00727,"Athabascan 脳幹発育不全症候群;
 Bosley-Salih-Alorainy 症候群",,,"Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders.",先天奇形,,HOXA1 [HSA:3198] [KO:K09301],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: C535397
 OMIM: 601536","PMID:18412118
 著者        Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP
 タイトル      The clinical spectrum of homozygous HOXA1 mutations.
 雑誌        Am J Med Genet A 146A:1235-40 (2008)
 DOI:10.1002/ajmg.a.32262
 PMID:17875913
 著者        Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC
 タイトル      Clinical characterization of the HOXA1 syndrome BSAS variant.
 雑誌        Neurology 69:1245-53 (2007)
 DOI:10.1212/01.wnl.0000276947.59704.cf
 PMID:12833395
 著者        Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff C
 タイトル      Athabascan brainstem dysgenesis syndrome.
 雑誌        Am J Med Genet A 120A:169-73 (2003)
 DOI:10.1002/ajmg.a.20087","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00727"">H00727</a>","Athabascan 脳幹発育不全症候群;
 Bosley-Salih-Alorainy 症候群","Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders.",,"HOXA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3198"">3198</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09301"">K09301</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535397"">C535397</a>
 OMIM: <a href=""https://www.omim.org/entry/601536"">601536</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18412118"">18412118</a>
 著者        Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP
 タイトル      The clinical spectrum of homozygous HOXA1 mutations.
 雑誌        Am J Med Genet A 146A:1235-40 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32262"">10.1002/ajmg.a.32262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17875913"">17875913</a>
 著者        Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC
 タイトル      Clinical characterization of the HOXA1 syndrome BSAS variant.
 雑誌        Neurology 69:1245-53 (2007)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000276947.59704.cf"">10.1212/01.wnl.0000276947.59704.cf</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12833395"">12833395</a>
 著者        Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff C
 タイトル      Athabascan brainstem dysgenesis syndrome.
 雑誌        Am J Med Genet A 120A:169-73 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20087"">10.1002/ajmg.a.20087</a>"
H00728,ブルガダ症候群,,,"The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.",心疾患,,"(BRS1) SCN5A [HSA:6331] [KO:K04838]
 (BRS2) GPD1L [HSA:23171] [KO:K00006]
 (BRS3) CACNA1C [HSA:775] [KO:K04850]
 (BRS4) CACNB2 [HSA:783] [KO:K04863]
 (BRS5) SCN1B [HSA:6324] [KO:K04845]
 (BRS6) KCNE3 [HSA:10008] [KO:K04897]
 (BRS7) SCN3B [HSA:55800] [KO:K04847]
 (BRS8) HCN4 [HSA:10021] [KO:K04957]
 (BRS9) KCND3 [HSA:3752] [KO:K04893]",,,,,,"ICD-11: BC65.1
 ICD-10: I49.0
 OMIM: 601144 611777 611875 611876 612838 613119 613120 613123 616399","PMID:16972995
 著者        Napolitano C, Priori SG
 タイトル      Brugada syndrome.
 雑誌        Orphanet J Rare Dis 1:35 (2006)
 DOI:10.1186/1750-1172-1-35
 PMID:20301690 (mutations and treatments)
 著者        Brugada R, Campuzano O, Brugada P, Brugada J, Hong K
 タイトル      Brugada Syndrome
 雑誌        GeneReviews (1993)
 PMID:21209740
 著者        Kalavakunta JK, Bantu V, Tokala H, Kodenchery M
 タイトル      Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome.
 雑誌        Case Report Med 2010:823490 (2010)
 DOI:10.1155/2010/823490
 PMID:1309182
 著者        Brugada P, Brugada J
 タイトル      Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
 雑誌        J Am Coll Cardiol 20:1391-6 (1992)
 DOI:10.1016/0735-1097(92)90253-J
 PMID:22457051
 著者        Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ
 タイトル      Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
 雑誌        Hum Mutat 33:989-97 (2012)
 DOI:10.1002/humu.22058","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00728"">H00728</a>",ブルガダ症候群,"The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.",,"(BRS1) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (BRS2) GPD1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23171"">23171</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00006"">K00006</a>]
 (BRS3) CACNA1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:775"">775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04850"">K04850</a>]
 (BRS4) CACNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:783"">783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04863"">K04863</a>]
 (BRS5) SCN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6324"">6324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04845"">K04845</a>]
 (BRS6) KCNE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10008"">10008</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04897"">K04897</a>]
 (BRS7) SCN3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55800"">55800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04847"">K04847</a>]
 (BRS8) HCN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10021"">10021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04957"">K04957</a>]
 (BRS9) KCND3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3752"">3752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04893"">K04893</a>]",,,,,,"ICD-11: BC65.1
 ICD-10: I49.0
 OMIM: <a href=""https://www.omim.org/entry/601144"">601144</a> <a href=""https://www.omim.org/entry/611777"">611777</a> <a href=""https://www.omim.org/entry/611875"">611875</a> <a href=""https://www.omim.org/entry/611876"">611876</a> <a href=""https://www.omim.org/entry/612838"">612838</a> <a href=""https://www.omim.org/entry/613119"">613119</a> <a href=""https://www.omim.org/entry/613120"">613120</a> <a href=""https://www.omim.org/entry/613123"">613123</a> <a href=""https://www.omim.org/entry/616399"">616399</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16972995"">16972995</a>
 著者        Napolitano C, Priori SG
 タイトル      Brugada syndrome.
 雑誌        Orphanet J Rare Dis 1:35 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-35"">10.1186/1750-1172-1-35</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301690"">20301690</a> (mutations <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/treatments)"">treatments)</a>
 著者        Brugada R, Campuzano O, Brugada P, Brugada J, Hong K
 タイトル      Brugada Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21209740"">21209740</a>
 著者        Kalavakunta JK, Bantu V, Tokala H, Kodenchery M
 タイトル      Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome.
 雑誌        Case Report Med 2010:823490 (2010)
 DOI:<a href=""https://doi.org/10.1155/2010/823490"">10.1155/2010/823490</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1309182"">1309182</a>
 著者        Brugada P, Brugada J
 タイトル      Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
 雑誌        J Am Coll Cardiol 20:1391-6 (1992)
 DOI:<a href=""https://doi.org/10.1016/0735-1097(92)90253-J"">10.1016/0735-1097(92)90253-J</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22457051"">22457051</a>
 著者        Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ
 タイトル      Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
 雑誌        Hum Mutat 33:989-97 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22058"">10.1002/humu.22058</a>"
H00729,洞不全症候群,,,"Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and tachycardia. Autosomal recessive type (SSS1) can be caused by compound heterozygous mutation in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid upstroke of action potential, whereas HCN4 codes for an alpha-subunit of hyperpolarization-activated cation channel.",心疾患,,"(SSS1) SCN5A [HSA:6331] [KO:K04838]
 (SSS2) HCN4 [HSA:10021] [KO:K04957]
 (SSS3) MYH6 [HSA:4624] [KO:K17751]
 (SSS4) GNB2 [HSA:2783] [KO:K04537]",,,,,,"ICD-11: BC80.20
 OMIM: 608567 163800 614090 619464","PMID:12725451
 著者        Adan V, Crown LA
 タイトル      Diagnosis and treatment of sick sinus syndrome.
 雑誌        Am Fam Physician 67:1725-32 (2003)
 PMID:14523039 (SCN5A)
 著者        Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr
 タイトル      Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
 雑誌        J Clin Invest 112:1019-28 (2003)
 DOI:10.1172/JCI18062
 PMID:15123648 (HCN4)
 著者        Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A
 タイトル      Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.
 雑誌        J Biol Chem 279:27194-8 (2004)
 DOI:10.1074/jbc.M311953200
 PMID:21378987 (MYH6)
 著者        Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K
 タイトル      A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
 雑誌        Nat Genet 43:316-20 (2011)
 DOI:10.1038/ng.781
 PMID:28219978 (GNB2)
 著者        Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E
 タイトル      A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
 雑誌        Circ Res 120:e33-e44 (2017)
 DOI:10.1161/CIRCRESAHA.116.310112","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00729"">H00729</a>",洞不全症候群,"Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and tachycardia. Autosomal recessive type (SSS1) can be caused by compound heterozygous mutation in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid upstroke of action potential, whereas HCN4 codes for an alpha-subunit of hyperpolarization-activated cation channel.",,"(SSS1) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (SSS2) HCN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10021"">10021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04957"">K04957</a>]
 (SSS3) MYH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4624"">4624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (SSS4) GNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2783"">2783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04537"">K04537</a>]",,,,,,"ICD-11: BC80.20
 OMIM: <a href=""https://www.omim.org/entry/608567"">608567</a> <a href=""https://www.omim.org/entry/163800"">163800</a> <a href=""https://www.omim.org/entry/614090"">614090</a> <a href=""https://www.omim.org/entry/619464"">619464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12725451"">12725451</a>
 著者        Adan V, Crown LA
 タイトル      Diagnosis and treatment of sick sinus syndrome.
 雑誌        Am Fam Physician 67:1725-32 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14523039"">14523039</a> (SCN5A)
 著者        Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr
 タイトル      Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
 雑誌        J Clin Invest 112:1019-28 (2003)
 DOI:<a href=""https://doi.org/10.1172/JCI18062"">10.1172/JCI18062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15123648"">15123648</a> (HCN4)
 著者        Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A
 タイトル      Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.
 雑誌        J Biol Chem 279:27194-8 (2004)
 DOI:<a href=""https://doi.org/10.1074/jbc.M311953200"">10.1074/jbc.M311953200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21378987"">21378987</a> (MYH6)
 著者        Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K
 タイトル      A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
 雑誌        Nat Genet 43:316-20 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.781"">10.1038/ng.781</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28219978"">28219978</a> (GNB2)
 著者        Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E
 タイトル      A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
 雑誌        Circ Res 120:e33-e44 (2017)
 DOI:<a href=""https://doi.org/10.1161/CIRCRESAHA.116.310112"">10.1161/CIRCRESAHA.116.310112</a>"
H00730,家族性特発性心室細動,,,"Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found a novel SCN5A missense mutation in one symptomatic IVF patient that did not exhibit the typical Brugada electrocardiogram (ECG). Recently, IVF linked to the DPP6 gene has been reported.",心疾患,,"(IVF1) SCN5A [HSA:6331] [KO:K04838]
 (IVF2) DPP6 [HSA:1804] [KO:K23013]",,,,,Brugada syndrome [DS:H00728],"ICD-11: BC65.4
 OMIM: 603829 612956","PMID:10940383
 著者        Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M
 タイトル      A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
 雑誌        FEBS Lett 479:29-34 (2000)
 DOI:10.1016/S0014-5793(00)01875-5
 PMID:21512816
 著者        Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA
 タイトル      Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6.
 雑誌        Neth Heart J 19:290-6 (2011)
 DOI:10.1007/s12471-011-0102-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00730"">H00730</a>",家族性特発性心室細動,"Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found a novel SCN5A missense mutation in one symptomatic IVF patient that did not exhibit the typical Brugada electrocardiogram (ECG). Recently, IVF linked to the DPP6 gene has been reported.",,"(IVF1) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (IVF2) DPP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1804"">1804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23013"">K23013</a>]",,,,,"Brugada syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00728"">H00728</a>]","ICD-11: BC65.4
 OMIM: <a href=""https://www.omim.org/entry/603829"">603829</a> <a href=""https://www.omim.org/entry/612956"">612956</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10940383"">10940383</a>
 著者        Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M
 タイトル      A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
 雑誌        FEBS Lett 479:29-34 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0014-5793(00)01875-5"">10.1016/S0014-5793(00)01875-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21512816"">21512816</a>
 著者        Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA
 タイトル      Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6.
 雑誌        Neth Heart J 19:290-6 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12471-011-0102-8"">10.1007/s12471-011-0102-8</a>"
H00731,心房細動,,,"Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis for AF. By linkage analysis, several loci have been mapped for monogenetic AF. Some of these loci encode for subunits of potassium channels.",心疾患,,"(ATFB3) KCNQ1 [HSA:3784] [KO:K04926]
 (ATFB4) KCNE2 [HSA:9992] [KO:K04896]
 (ATFB6) NPPA [HSA:4878] [KO:K12334]
 (ATFB7) KCNA5 [HSA:3741] [KO:K04878]
 (ATFB9) KCNJ2 [HSA:3759] [KO:K04996]
 (ATFB10) SCN5A [HSA:6331] [KO:K04838]
 (ATFB11) GJA5 [HSA:2702] [KO:K07614]
 (ATFB12) ABCC9 [HSA:10060] [KO:K05033]
 (ATFB13) SCN1B [HSA:6324] [KO:K04845]
 (ATFB14) SCN2B [HSA:6327] [KO:K04846]
 (ATFB15) NUP155 [HSA:9631] [KO:K14312]
 (ATFB16) SCN3B [HSA:55800] [KO:K04847]
 (ATFB17) SCN4B [HSA:6330] [KO:K04848]
 (ATFB18) MYL4 [HSA:4635] [KO:K12750]",,,,"プロカインアミド塩酸塩 [DR:D00477]
 キニジン硫酸塩水和物 [DR:D02272]
 プロプラノロール塩酸塩 [DR:D00483]
 アセブトロール塩酸塩 [DR:D00597]
 ビソプロロールフマル酸塩 [DR:D00634]
 ランジオロール塩酸塩 [DR:D01847]
 ジソピラミド [DR:D00303]
 フレカイニド酢酸塩 [DR:D00638]
 アミオダロン塩酸塩 [DR:D00636]
 ベラパミル塩酸塩 [DR:D00619]
 ベプリジル塩酸塩水和物 [DR:D00631]
 ビソプロロール [DR:D02342]
 カルベジロール [DR:D00255]",,"ICD-11: BC81.3
 ICD-10: I48
 OMIM: 608583 607554 611493 612201 612240 613980 614022 614049 614050 615377 615378 615770 613120 611819 617280","PMID:18634977
 著者        Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT
 タイトル      Molecular genetics of atrial fibrillation.
 雑誌        J Am Coll Cardiol 52:241-50 (2008)
 DOI:10.1016/j.jacc.2008.02.072
 PMID:17768091
 著者        Otway R, Vandenberg JI, Fatkin D
 タイトル      Atrial fibrillation--a new cardiac channelopathy.
 雑誌        Heart Lung Circ 16:356-60 (2007)
 DOI:10.1016/j.hlc.2007.07.003
 PMID:19808477
 著者        Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM
 タイトル      Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.
 雑誌        Circ Arrhythm Electrophysiol 2:268-75 (2009)
 DOI:10.1161/CIRCEP.108.779181
 PMID:19070573
 著者        Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, Wang QK
 タイトル      Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.
 雑誌        Cell 135:1017-27 (2008)
 DOI:10.1016/j.cell.2008.10.022
 PMID:21051419
 著者        Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH
 タイトル      Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.
 雑誌        Cardiovasc Res 89:786-93 (2011)
 DOI:10.1093/cvr/cvq348
 PMID:27066836
 著者        Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DY, Gollob MH
 タイトル      A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
 雑誌        Nat Commun 7:11303 (2016)
 DOI:10.1038/ncomms11303","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00731"">H00731</a>",心房細動,"Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis for AF. By linkage analysis, several loci have been mapped for monogenetic AF. Some of these loci encode for subunits of potassium channels.",,"(ATFB3) KCNQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]
 (ATFB4) KCNE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9992"">9992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04896"">K04896</a>]
 (ATFB6) NPPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4878"">4878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12334"">K12334</a>]
 (ATFB7) KCNA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3741"">3741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04878"">K04878</a>]
 (ATFB9) KCNJ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3759"">3759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04996"">K04996</a>]
 (ATFB10) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (ATFB11) GJA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2702"">2702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07614"">K07614</a>]
 (ATFB12) ABCC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10060"">10060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05033"">K05033</a>]
 (ATFB13) SCN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6324"">6324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04845"">K04845</a>]
 (ATFB14) SCN2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6327"">6327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04846"">K04846</a>]
 (ATFB15) NUP155 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9631"">9631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14312"">K14312</a>]
 (ATFB16) SCN3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55800"">55800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04847"">K04847</a>]
 (ATFB17) SCN4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6330"">6330</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04848"">K04848</a>]
 (ATFB18) MYL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4635"">4635</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12750"">K12750</a>]",,,,"プロカインアミド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00477"">D00477</a>]
 キニジン硫酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02272"">D02272</a>]
 プロプラノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00483"">D00483</a>]
 アセブトロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00597"">D00597</a>]
 ビソプロロールフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00634"">D00634</a>]
 ランジオロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01847"">D01847</a>]
 ジソピラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00303"">D00303</a>]
 フレカイニド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00638"">D00638</a>]
 アミオダロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00636"">D00636</a>]
 ベラパミル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00619"">D00619</a>]
 ベプリジル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00631"">D00631</a>]
 ビソプロロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02342"">D02342</a>]
 カルベジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00255"">D00255</a>]",,"ICD-11: BC81.3
 ICD-10: I48
 OMIM: <a href=""https://www.omim.org/entry/608583"">608583</a> <a href=""https://www.omim.org/entry/607554"">607554</a> <a href=""https://www.omim.org/entry/611493"">611493</a> <a href=""https://www.omim.org/entry/612201"">612201</a> <a href=""https://www.omim.org/entry/612240"">612240</a> <a href=""https://www.omim.org/entry/613980"">613980</a> <a href=""https://www.omim.org/entry/614022"">614022</a> <a href=""https://www.omim.org/entry/614049"">614049</a> <a href=""https://www.omim.org/entry/614050"">614050</a> <a href=""https://www.omim.org/entry/615377"">615377</a> <a href=""https://www.omim.org/entry/615378"">615378</a> <a href=""https://www.omim.org/entry/615770"">615770</a> <a href=""https://www.omim.org/entry/613120"">613120</a> <a href=""https://www.omim.org/entry/611819"">611819</a> <a href=""https://www.omim.org/entry/617280"">617280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18634977"">18634977</a>
 著者        Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT
 タイトル      Molecular genetics of atrial fibrillation.
 雑誌        J Am Coll Cardiol 52:241-50 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2008.02.072"">10.1016/j.jacc.2008.02.072</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17768091"">17768091</a>
 著者        Otway R, Vandenberg JI, Fatkin D
 タイトル      Atrial fibrillation--a new cardiac channelopathy.
 雑誌        Heart Lung Circ 16:356-60 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.hlc.2007.07.003"">10.1016/j.hlc.2007.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19808477"">19808477</a>
 著者        Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM
 タイトル      Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.
 雑誌        Circ Arrhythm Electrophysiol 2:268-75 (2009)
 DOI:<a href=""https://doi.org/10.1161/CIRCEP.108.779181"">10.1161/CIRCEP.108.779181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19070573"">19070573</a>
 著者        Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, Wang QK
 タイトル      Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.
 雑誌        Cell 135:1017-27 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2008.10.022"">10.1016/j.cell.2008.10.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21051419"">21051419</a>
 著者        Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH
 タイトル      Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.
 雑誌        Cardiovasc Res 89:786-93 (2011)
 DOI:<a href=""https://doi.org/10.1093/cvr/cvq348"">10.1093/cvr/cvq348</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27066836"">27066836</a>
 著者        Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DY, Gollob MH
 タイトル      A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
 雑誌        Nat Commun 7:11303 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms11303"">10.1038/ncomms11303</a>"
H00732,"ソースビー眼底変性症;
 ソースビー黄斑変性症",,,"Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease.",神経系疾患,,TIMP3 [HSA:7078] [KO:K16866],,,,,,"ICD-11: 9B61
 ICD-10: H35.5
 MeSH: C564992
 OMIM: 136900","PMID:2695876
 著者        Hamilton WK, Ewing CC, Ives EJ, Carruthers JD
 タイトル      Sorsby's fundus dystrophy.
 雑誌        Ophthalmology 96:1755-62 (1989)
 DOI:10.1016/S0161-6420(89)32647-9
 PMID:11486938
 著者        Weisinger HS, Pesudovs K
 タイトル      Sorsby's fundus dystrophy.
 雑誌        Optometry 72:435-40 (2001)
 PMID:1559761
 著者        Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC
 タイトル      Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 33:1633-6 (1992)
 PMID:11556484
 著者        Musarella MA
 タイトル      Molecular genetics of macular degeneration.
 雑誌        Doc Ophthalmol 102:165-77 (2001)
 DOI:10.1023/a:1017510515893
 PMID:16259644
 著者        Li Z, Clarke MP, Barker MD, McKie N
 タイトル      TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
 雑誌        Expert Rev Mol Med 7:1-15 (2005)
 DOI:10.1017/S1462399405010045","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00732"">H00732</a>","ソースビー眼底変性症;
 ソースビー黄斑変性症","Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease.",,"TIMP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7078"">7078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16866"">K16866</a>]",,,,,,"ICD-11: 9B61
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564992"">C564992</a>
 OMIM: <a href=""https://www.omim.org/entry/136900"">136900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2695876"">2695876</a>
 著者        Hamilton WK, Ewing CC, Ives EJ, Carruthers JD
 タイトル      Sorsby's fundus dystrophy.
 雑誌        Ophthalmology 96:1755-62 (1989)
 DOI:<a href=""https://doi.org/10.1016/S0161-6420(89)32647-9"">10.1016/S0161-6420(89)32647-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11486938"">11486938</a>
 著者        Weisinger HS, Pesudovs K
 タイトル      Sorsby's fundus dystrophy.
 雑誌        Optometry 72:435-40 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1559761"">1559761</a>
 著者        Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC
 タイトル      Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 33:1633-6 (1992)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11556484"">11556484</a>
 著者        Musarella MA
 タイトル      Molecular genetics of macular degeneration.
 雑誌        Doc Ophthalmol 102:165-77 (2001)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1017510515893"">1017510515893</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16259644"">16259644</a>
 著者        Li Z, Clarke MP, Barker MD, McKie N
 タイトル      TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
 雑誌        Expert Rev Mol Med 7:1-15 (2005)
 DOI:<a href=""https://doi.org/10.1017/S1462399405010045"">10.1017/S1462399405010045</a>"
H00733,道化師様魚鱗癬,,,"Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes.",先天奇形,,ABCA12 [HSA:26154] [KO:K05646],,,,,,"ICD-11: EC20.02
 ICD-10: Q80.4
 MeSH: C538424
 OMIM: 242500","PMID:18341575
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:10.1111/j.1600-0625.2007.00691.x
 PMID:16935789
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:16481150
 著者        Akiyama M
 タイトル      Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
 雑誌        J Dermatol Sci 42:83-9 (2006)
 DOI:10.1016/j.jdermsci.2006.01.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00733"">H00733</a>",道化師様魚鱗癬,"Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes.",,"ABCA12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26154"">26154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05646"">K05646</a>]",,,,,,"ICD-11: EC20.02
 ICD-10: Q80.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538424"">C538424</a>
 OMIM: <a href=""https://www.omim.org/entry/242500"">242500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18341575"">18341575</a>
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.2007.00691.x"">10.1111/j.1600-0625.2007.00691.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16935789"">16935789</a>
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16481150"">16481150</a>
 著者        Akiyama M
 タイトル      Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
 雑誌        J Dermatol Sci 42:83-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2006.01.003"">10.1016/j.jdermsci.2006.01.003</a>"
H00734,"常染色体劣性遺伝性先天性魚鱗癬
 下位グループ    葉状魚鱗癬 (LI)
 非水疱型先天性魚鱗癬様紅皮症 (NBCIE)
 上位グループ    先天性魚鱗癬 [DS:H01771]",,,"Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.",先天奇形,,"(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619]
 (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021]
 (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684]
 (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646]
 (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731]
 (ARCI6) NIPAL4 [HSA:348938] [KO:K22733]
 (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210]
 (ARCI9) CERS3 [HSA:204219] [KO:K24622]
 (ARCI10) PNPLA1 [HSA:285848] [KO:K16813]
 (ARCI11) ST14 [HSA:6768] [KO:K08670]
 (ARCI12) CASP14 [HSA:23581] [KO:K04401]
 (ARCI13) SDR9C7 [HSA:121214] [KO:K24425]
 (ARCI14) SULT2B1 [HSA:6820] [KO:K01015]",,,,エトレチナート [DR:D00316],"Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691.
 See also H00733 Harlequin ichthyosis and H00739 Ichthyosis with hypotrichosis.","ICD-11: EC20.02
 ICD-10: Q80.2
 MeSH: D017490
 OMIM: 242300 242100 606545 601277 604777 612281 613943 615023 615024 602400 617320 617574 617571","PMID:18341575
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:10.1111/j.1600-0625.2007.00691.x
 PMID:16935789
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:16481150
 著者        Akiyama M
 タイトル      Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
 雑誌        J Dermatol Sci 42:83-9 (2006)
 DOI:10.1016/j.jdermsci.2006.01.003
 PMID:16436457
 著者        Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
 雑誌        Hum Mol Genet 15:767-76 (2006)
 DOI:10.1093/hmg/ddi491
 PMID:15317751
 著者        Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
 雑誌        Hum Mol Genet 13:2473-82 (2004)
 DOI:10.1093/hmg/ddh263
 PMID:21439540
 著者        Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E
 タイトル      A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
 雑誌        Am J Hum Genet 88:482-7 (2011)
 DOI:10.1016/j.ajhg.2011.02.011
 PMID:23549421
 著者        Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Muller D, Becker K, Casper R, Nurnberg G, Altmuller J, Nurnberg P, Traupe H, Futerman AH, Hennies HC
 タイトル      Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
 雑誌        J Invest Dermatol 133:2202-11 (2013)
 DOI:10.1038/jid.2013.153
 PMID:22246504
 著者        Grall A, Guaguere E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kury S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andre C, Fischer J
 タイトル      PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
 雑誌        Nat Genet 44:140-7 (2012)
 DOI:10.1038/ng.1056
 PMID:27494380
 著者        Kirchmeier P, Zimmer A, Bouadjar B, Rosler B, Fischer J
 タイトル      Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
 雑誌        Acta Derm Venereol 96:102-104 (2017)
 DOI:10.2340/00015555-2510
 PMID:28173123
 著者        Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y
 タイトル      Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
 雑誌        Hum Mol Genet 25:4484-4493 (2016)
 DOI:10.1093/hmg/ddw277
 PMID:28575648
 著者        Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J
 タイトル      Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
 雑誌        Am J Hum Genet 100:926-939 (2017)
 DOI:10.1016/j.ajhg.2017.05.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00734"">H00734</a>","常染色体劣性遺伝性先天性魚鱗癬
 下位グループ    葉状魚鱗癬 (LI)
 非水疱型先天性魚鱗癬様紅皮症 (NBCIE)
 上位グループ    先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>]","Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.",,"(ARCI1/ LI1) TGM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7051"">7051</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05619"">K05619</a>]
 (ARCI2/ NBCIE) ALOX12B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:242"">242</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08021"">K08021</a>]
 (ARCI3/ LI5) ALOXE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59344"">59344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18684"">K18684</a>]
 (ARCI4/ LI2) ABCA12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26154"">26154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05646"">K05646</a>]
 (ARCI5/ LI3) CYP4F22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126410"">126410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17731"">K17731</a>]
 (ARCI6) NIPAL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348938"">348938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22733"">K22733</a>]
 (ARCI8/ LI4) LIPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:643418"">643418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24210"">K24210</a>]
 (ARCI9) CERS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:204219"">204219</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24622"">K24622</a>]
 (ARCI10) PNPLA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285848"">285848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16813"">K16813</a>]
 (ARCI11) ST14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6768"">6768</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08670"">K08670</a>]
 (ARCI12) CASP14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23581"">23581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04401"">K04401</a>]
 (ARCI13) SDR9C7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121214"">121214</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24425"">K24425</a>]
 (ARCI14) SULT2B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6820"">6820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01015"">K01015</a>]",,,,"エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]","Bullous congenital ichthyosiform erythroderma (BCIE) is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00691."">H00691.</a>
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00733"">H00733</a> Harlequin ichthyosis and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00739"">H00739</a> Ichthyosis with hypotrichosis.","ICD-11: EC20.02
 ICD-10: Q80.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017490"">D017490</a>
 OMIM: <a href=""https://www.omim.org/entry/242300"">242300</a> <a href=""https://www.omim.org/entry/242100"">242100</a> <a href=""https://www.omim.org/entry/606545"">606545</a> <a href=""https://www.omim.org/entry/601277"">601277</a> <a href=""https://www.omim.org/entry/604777"">604777</a> <a href=""https://www.omim.org/entry/612281"">612281</a> <a href=""https://www.omim.org/entry/613943"">613943</a> <a href=""https://www.omim.org/entry/615023"">615023</a> <a href=""https://www.omim.org/entry/615024"">615024</a> <a href=""https://www.omim.org/entry/602400"">602400</a> <a href=""https://www.omim.org/entry/617320"">617320</a> <a href=""https://www.omim.org/entry/617574"">617574</a> <a href=""https://www.omim.org/entry/617571"">617571</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18341575"">18341575</a>
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.2007.00691.x"">10.1111/j.1600-0625.2007.00691.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16935789"">16935789</a>
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16481150"">16481150</a>
 著者        Akiyama M
 タイトル      Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
 雑誌        J Dermatol Sci 42:83-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2006.01.003"">10.1016/j.jdermsci.2006.01.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16436457"">16436457</a>
 著者        Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
 雑誌        Hum Mol Genet 15:767-76 (2006)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi491"">10.1093/hmg/ddi491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15317751"">15317751</a>
 著者        Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
 雑誌        Hum Mol Genet 13:2473-82 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh263"">10.1093/hmg/ddh263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21439540"">21439540</a>
 著者        Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E
 タイトル      A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
 雑誌        Am J Hum Genet 88:482-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.011"">10.1016/j.ajhg.2011.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23549421"">23549421</a>
 著者        Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Muller D, Becker K, Casper R, Nurnberg G, Altmuller J, Nurnberg P, Traupe H, Futerman AH, Hennies HC
 タイトル      Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
 雑誌        J Invest Dermatol 133:2202-11 (2013)
 DOI:<a href=""https://doi.org/10.1038/jid.2013.153"">10.1038/jid.2013.153</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22246504"">22246504</a>
 著者        Grall A, Guaguere E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kury S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andre C, Fischer J
 タイトル      PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
 雑誌        Nat Genet 44:140-7 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1056"">10.1038/ng.1056</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27494380"">27494380</a>
 著者        Kirchmeier P, Zimmer A, Bouadjar B, Rosler B, Fischer J
 タイトル      Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
 雑誌        Acta Derm Venereol 96:102-104 (2017)
 DOI:<a href=""https://doi.org/10.2340/00015555-2510"">10.2340/00015555-2510</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28173123"">28173123</a>
 著者        Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y
 タイトル      Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
 雑誌        Hum Mol Genet 25:4484-4493 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw277"">10.1093/hmg/ddw277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28575648"">28575648</a>
 著者        Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J
 タイトル      Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
 雑誌        Am J Hum Genet 100:926-939 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.007"">10.1016/j.ajhg.2017.05.007</a>"
H00735,"尋常性魚鱗癬
 上位グループ    先天性魚鱗癬 [DS:H01771]",,,Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin that leads to reduction of keratohyalin granules in epidermis. The condition is inherited in an autosomal dominant pattern.,先天奇形,,FLG [HSA:2312] [KO:K10384],,,,"ビタミンA油 [DR:D00069]
 トコフェロール・ビタミンA [DR:D04805]
 サリチル酸 [DR:D00097]
 エトレチナート [DR:D00316]",,"ICD-11: EC20.00
 ICD-10: Q80.0
 MeSH: D016112
 OMIM: 146700","PMID:18341575
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:10.1111/j.1600-0625.2007.00691.x
 PMID:16935789
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:16444271
 著者        Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH
 タイトル      Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
 雑誌        Nat Genet 38:337-42 (2006)
 DOI:10.1038/ng1743
 PMID:26770148 (drug)
 著者        Anderson B
 タイトル      The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report.
 雑誌        Integr Med (Encinitas) 14:55-8 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00735"">H00735</a>","尋常性魚鱗癬
 上位グループ    先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>]",Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin that leads to reduction of keratohyalin granules in epidermis. The condition is inherited in an autosomal dominant pattern.,,"FLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2312"">2312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10384"">K10384</a>]",,,,"ビタミンA油 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00069"">D00069</a>]
 トコフェロール・ビタミンA [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04805"">D04805</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]",,"ICD-11: EC20.00
 ICD-10: Q80.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016112"">D016112</a>
 OMIM: <a href=""https://www.omim.org/entry/146700"">146700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18341575"">18341575</a>
 著者        Akiyama M, Shimizu H
 タイトル      An update on molecular aspects of the non-syndromic ichthyoses.
 雑誌        Exp Dermatol 17:373-82 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.2007.00691.x"">10.1111/j.1600-0625.2007.00691.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16935789"">16935789</a>
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16444271"">16444271</a>
 著者        Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH
 タイトル      Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
 雑誌        Nat Genet 38:337-42 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1743"">10.1038/ng1743</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26770148"">26770148</a> (drug)
 著者        Anderson B
 タイトル      The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report.
 雑誌        Integr Med (Encinitas) 14:55-8 (2015)"
H00736,ドルフマン・シャナリン症候群,,,"Chanarin-Dorfman syndrome, also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder.",先天性代謝疾患,,CGI58 [HSA:51099] [KO:K13699],,,,,,"ICD-11: 5C52.2
 ICD-10: E75.5
 MeSH: C536560
 OMIM: 275630","PMID:16935789 (description, gene, marker)
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:15452860
 著者        Richard G
 タイトル      Molecular genetics of the ichthyoses.
 雑誌        Am J Med Genet C Semin Med Genet 131C:32-44 (2004)
 DOI:10.1002/ajmg.c.30032
 PMID:19061969 (description, gene, marker)
 著者        Yamaguchi T, Osumi T
 タイトル      Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
 雑誌        Biochim Biophys Acta 1791:519-23 (2009)
 DOI:10.1016/j.bbalip.2008.10.012
 PMID:11590543
 著者        Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
 雑誌        Am J Hum Genet 69:1002-12 (2001)
 DOI:10.1086/324121","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00736"">H00736</a>",ドルフマン・シャナリン症候群,"Chanarin-Dorfman syndrome, also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder.",,"CGI58 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51099"">51099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13699"">K13699</a>]",,,,,,"ICD-11: 5C52.2
 ICD-10: E75.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536560"">C536560</a>
 OMIM: <a href=""https://www.omim.org/entry/275630"">275630</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16935789"">16935789</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15452860"">15452860</a>
 著者        Richard G
 タイトル      Molecular genetics of the ichthyoses.
 雑誌        Am J Med Genet C Semin Med Genet 131C:32-44 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30032"">10.1002/ajmg.c.30032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19061969"">19061969</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Yamaguchi T, Osumi T
 タイトル      Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
 雑誌        Biochim Biophys Acta 1791:519-23 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2008.10.012"">10.1016/j.bbalip.2008.10.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11590543"">11590543</a>
 著者        Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
 タイトル      Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
 雑誌        Am J Hum Genet 69:1002-12 (2001)
 DOI:<a href=""https://doi.org/10.1086/324121"">10.1086/324121</a>"
H00737,"Peeling skin 症候群
 下位グループ    爪甲白斑を伴う表皮剥脱、肢端点状角化症、口唇炎および指結節 (PLACK)",,,"Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Several underlying genetic causes of PSS have been identified.",先天奇形,,"(PSS1) CDSN [HSA:1041] [KO:K23457]
 (PSS2) TGM5 [HSA:9333] [KO:K05622]
 (PSS3) CHST8 [HSA:64377] [KO:K09672]
 (PSS4) CSTA [HSA:1475] [KO:K13907]
 (PSS5) SERPINB8 [HSA:5271] [KO:K13965]
 (PSS6) FLG2 [HSA:388698] [KO:K10384]
 (PLACK) CAST [HSA:831] [KO:K04281]",,,,,,"ICD-11: EC20.1
 ICD-10: Q80.8
 MeSH: C564818 C536316
 OMIM: 270300 609796 616265 607936 617115 618084 616295","PMID:16935789
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:22066523
 著者        Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA
 タイトル      Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
 雑誌        Pediatr Dermatol 29:258-63 (2012)
 DOI:10.1111/j.1525-1470.2011.01563.x
 PMID:11100033
 著者        Hashimoto K, Hamzavi I, Tanaka K, Shwayder T
 タイトル      Acral peeling skin syndrome.
 雑誌        J Am Acad Dermatol 43:1112-9 (2000)
 DOI:10.1067/mjd.2000.103645
 PMID:21191406
 著者        Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E
 タイトル      Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
 雑誌        J Invest Dermatol 131:779-81 (2011)
 DOI:10.1038/jid.2010.363
 PMID:22289416
 著者        Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM
 タイトル      Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
 雑誌        Genomics 99:202-8 (2012)
 DOI:10.1016/j.ygeno.2012.01.005
 PMID:23534700
 著者        Krunic AL, Stone KL, Simpson MA, McGrath JA
 タイトル      Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
 雑誌        Pediatr Dermatol 30:e87-8 (2013)
 DOI:10.1111/pde.12092
 PMID:27476651
 著者        Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC
 タイトル      Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
 雑誌        Am J Hum Genet 99:430-6 (2016)
 DOI:10.1016/j.ajhg.2016.06.004
 PMID:29505760
 著者        Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF
 タイトル      Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.
 雑誌        J Invest Dermatol 138:1881-1884 (2018)
 DOI:10.1016/j.jid.2018.01.038
 PMID:25683118
 著者        Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y
 タイトル      Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
 雑誌        Am J Hum Genet 96:440-7 (2015)
 DOI:10.1016/j.ajhg.2014.12.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00737"">H00737</a>","Peeling skin 症候群
 下位グループ    爪甲白斑を伴う表皮剥脱、肢端点状角化症、口唇炎および指結節 (PLACK)","Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Several underlying genetic causes of PSS have been identified.",,"(PSS1) CDSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1041"">1041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23457"">K23457</a>]
 (PSS2) TGM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9333"">9333</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05622"">K05622</a>]
 (PSS3) CHST8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64377"">64377</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09672"">K09672</a>]
 (PSS4) CSTA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1475"">1475</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13907"">K13907</a>]
 (PSS5) SERPINB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5271"">5271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13965"">K13965</a>]
 (PSS6) FLG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388698"">388698</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10384"">K10384</a>]
 (PLACK) CAST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:831"">831</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04281"">K04281</a>]",,,,,,"ICD-11: EC20.1
 ICD-10: Q80.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564818"">C564818</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536316"">C536316</a>
 OMIM: <a href=""https://www.omim.org/entry/270300"">270300</a> <a href=""https://www.omim.org/entry/609796"">609796</a> <a href=""https://www.omim.org/entry/616265"">616265</a> <a href=""https://www.omim.org/entry/607936"">607936</a> <a href=""https://www.omim.org/entry/617115"">617115</a> <a href=""https://www.omim.org/entry/618084"">618084</a> <a href=""https://www.omim.org/entry/616295"">616295</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16935789"">16935789</a>
 著者        Oji V, Traupe H
 タイトル      Ichthyoses: differential diagnosis and molecular genetics.
 雑誌        Eur J Dermatol 16:349-59 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22066523"">22066523</a>
 著者        Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA
 タイトル      Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
 雑誌        Pediatr Dermatol 29:258-63 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2011.01563.x"">10.1111/j.1525-1470.2011.01563.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11100033"">11100033</a>
 著者        Hashimoto K, Hamzavi I, Tanaka K, Shwayder T
 タイトル      Acral peeling skin syndrome.
 雑誌        J Am Acad Dermatol 43:1112-9 (2000)
 DOI:<a href=""https://doi.org/10.1067/mjd.2000.103645"">10.1067/mjd.2000.103645</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21191406"">21191406</a>
 著者        Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E
 タイトル      Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
 雑誌        J Invest Dermatol 131:779-81 (2011)
 DOI:<a href=""https://doi.org/10.1038/jid.2010.363"">10.1038/jid.2010.363</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22289416"">22289416</a>
 著者        Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM
 タイトル      Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
 雑誌        Genomics 99:202-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ygeno.2012.01.005"">10.1016/j.ygeno.2012.01.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23534700"">23534700</a>
 著者        Krunic AL, Stone KL, Simpson MA, McGrath JA
 タイトル      Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
 雑誌        Pediatr Dermatol 30:e87-8 (2013)
 DOI:<a href=""https://doi.org/10.1111/pde.12092"">10.1111/pde.12092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476651"">27476651</a>
 著者        Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC
 タイトル      Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
 雑誌        Am J Hum Genet 99:430-6 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.004"">10.1016/j.ajhg.2016.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29505760"">29505760</a>
 著者        Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF
 タイトル      Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.
 雑誌        J Invest Dermatol 138:1881-1884 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2018.01.038"">10.1016/j.jid.2018.01.038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25683118"">25683118</a>
 著者        Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y
 タイトル      Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
 雑誌        Am J Hum Genet 96:440-7 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.026"">10.1016/j.ajhg.2014.12.026</a>"
H00738,Ichthyosis with confetti,,,"Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches on red skin.",先天奇形,,KRT10 [HSA:3858] [KO:K07604],,,,,,"ICD-11: EC20.0Y
 OMIM: 609165","PMID:20798280
 著者        Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP
 タイトル      Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
 雑誌        Science 330:94-7 (2010)
 DOI:10.1126/science.1192280
 PMID:21929535
 著者        Burger B, Spoerri I, Schubert M, Has C, Itin PH
 タイトル      Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.
 雑誌        Br J Dermatol 166:434-9 (2012)
 DOI:10.1111/j.1365-2133.2011.10639.x
 PMID:9028791
 著者        Corden LD, McLean WH
 タイトル      Human keratin diseases: hereditary fragility of specific epithelial tissues.
 雑誌        Exp Dermatol 5:297-307 (1996)
 DOI:10.1111/j.1600-0625.1996.tb00133.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00738"">H00738</a>",Ichthyosis with confetti,"Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches on red skin.",,"KRT10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3858"">3858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: EC20.0Y
 OMIM: <a href=""https://www.omim.org/entry/609165"">609165</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20798280"">20798280</a>
 著者        Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP
 タイトル      Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
 雑誌        Science 330:94-7 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1192280"">10.1126/science.1192280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929535"">21929535</a>
 著者        Burger B, Spoerri I, Schubert M, Has C, Itin PH
 タイトル      Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.
 雑誌        Br J Dermatol 166:434-9 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2011.10639.x"">10.1111/j.1365-2133.2011.10639.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9028791"">9028791</a>
 著者        Corden LD, McLean WH
 タイトル      Human keratin diseases: hereditary fragility of specific epithelial tissues.
 雑誌        Exp Dermatol 5:297-307 (1996)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.1996.tb00133.x"">10.1111/j.1600-0625.1996.tb00133.x</a>"
H00739,乏毛症を伴う魚鱗癬,,,"Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked to ST14 encoding the matriptase serine protease.",先天奇形,,ST14 [HSA:6768] [KO:K08670],,,,,,"ICD-11: LD27.2
 ICD-10: Q80.9
 MeSH: C536273
 OMIM: 602400","PMID:18445049
 著者        Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L
 タイトル      Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
 雑誌        Clin Genet 74:47-53 (2008)
 DOI:10.1111/j.1399-0004.2008.01006.x
 PMID:17273967
 著者        Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M
 タイトル      Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
 雑誌        Am J Hum Genet 80:467-77 (2007)
 DOI:10.1086/512487
 PMID:17940283
 著者        List K, Currie B, Scharschmidt TC, Szabo R, Shireman J, Molinolo A, Cravatt BF, Segre J, Bugge TH
 タイトル      Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice.
 雑誌        J Biol Chem 282:36714-23 (2007)
 DOI:10.1074/jbc.M705521200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00739"">H00739</a>",乏毛症を伴う魚鱗癬,"Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked to ST14 encoding the matriptase serine protease.",,"ST14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6768"">6768</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08670"">K08670</a>]",,,,,,"ICD-11: LD27.2
 ICD-10: Q80.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536273"">C536273</a>
 OMIM: <a href=""https://www.omim.org/entry/602400"">602400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18445049"">18445049</a>
 著者        Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L
 タイトル      Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
 雑誌        Clin Genet 74:47-53 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.01006.x"">10.1111/j.1399-0004.2008.01006.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273967"">17273967</a>
 著者        Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M
 タイトル      Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
 雑誌        Am J Hum Genet 80:467-77 (2007)
 DOI:<a href=""https://doi.org/10.1086/512487"">10.1086/512487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17940283"">17940283</a>
 著者        List K, Currie B, Scharschmidt TC, Szabo R, Shireman J, Molinolo A, Cravatt BF, Segre J, Bugge TH
 タイトル      Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice.
 雑誌        J Biol Chem 282:36714-23 (2007)
 DOI:<a href=""https://doi.org/10.1074/jbc.M705521200"">10.1074/jbc.M705521200</a>"
H00740,IFAP 症候群,,,"Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome.",先天奇形,,"(IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
 (IFAP2) SREBF1 [HSA:6720] [KO:K07197]",,,,,,"ICD-11: LD27.2
 MeSH: C536085
 OMIM: 308205 619016","PMID:21600032
 著者        Megarbane H, Megarbane A
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
 雑誌        Orphanet J Rare Dis 6:29 (2011)
 DOI:10.1186/1750-1172-6-29
 PMID:14708109
 著者        Megarbane H, Zablit C, Waked N, Lefranc G, Tomb R, Megarbane A
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
 雑誌        Am J Med Genet A 124A:323-7 (2004)
 DOI:10.1002/ajmg.a.20352
 PMID:9714442
 著者        Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
 雑誌        Am J Med Genet 78:371-7 (1998)
 DOI:10.1002/(SICI)1096-8628(19980724)78:4<371::AID-AJMG13>3.0.CO;2-F
 PMID:32497488
 著者        Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortum F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmuller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z
 タイトル      Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
 雑誌        Am J Hum Genet 107:34-45 (2020)
 DOI:10.1016/j.ajhg.2020.05.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00740"">H00740</a>",IFAP 症候群,"Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome.",,"(IFAP1) MBTPS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51360"">51360</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07765"">K07765</a>]
 (IFAP2) SREBF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6720"">6720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07197"">K07197</a>]",,,,,,"ICD-11: LD27.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536085"">C536085</a>
 OMIM: <a href=""https://www.omim.org/entry/308205"">308205</a> <a href=""https://www.omim.org/entry/619016"">619016</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21600032"">21600032</a>
 著者        Megarbane H, Megarbane A
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
 雑誌        Orphanet J Rare Dis 6:29 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-29"">10.1186/1750-1172-6-29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14708109"">14708109</a>
 著者        Megarbane H, Zablit C, Waked N, Lefranc G, Tomb R, Megarbane A
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
 雑誌        Am J Med Genet A 124A:323-7 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20352"">10.1002/ajmg.a.20352</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9714442"">9714442</a>
 著者        Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
 タイトル      Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
 雑誌        Am J Med Genet 78:371-7 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980724)78:"">10.1002/(SICI)1096-8628(19980724)78:</a><a href=""https://doi.org/4<371:"">4<371:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG13>3.0.CO;2-F"">AID-AJMG13>3.0.CO;2-F</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32497488"">32497488</a>
 著者        Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortum F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmuller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z
 タイトル      Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
 雑誌        Am J Hum Genet 107:34-45 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.05.006"">10.1016/j.ajhg.2020.05.006</a>"
H00741,魚鱗癬未熟児症候群,,,"Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease harbor mutations in the gene encoding the fatty acid transport protein 4 (FATP4).",先天奇形,,SLC27A4 [HSA:10999] [KO:K08745],,,,,,"ICD-11: LD27.2
 MeSH: C536271
 OMIM: 608649","PMID:21856041
 著者        Khnykin D, Ronnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL
 タイトル      Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.
 雑誌        J Am Acad Dermatol 66:606-16 (2012)
 DOI:10.1016/j.jaad.2011.04.014
 PMID:19119129
 著者        Bygum A, Westermark P, Brandrup F
 タイトル      Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype.
 雑誌        J Am Acad Dermatol 59:S71-4 (2008)
 DOI:10.1016/j.jaad.2008.06.014
 PMID:19631310
 著者        Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, Vahlquist A, Bouadjar B, Dahl N, Fischer J
 タイトル      Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
 雑誌        Am J Hum Genet 85:248-53 (2009)
 DOI:10.1016/j.ajhg.2009.06.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00741"">H00741</a>",魚鱗癬未熟児症候群,"Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease harbor mutations in the gene encoding the fatty acid transport protein 4 (FATP4).",,"SLC27A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10999"">10999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08745"">K08745</a>]",,,,,,"ICD-11: LD27.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536271"">C536271</a>
 OMIM: <a href=""https://www.omim.org/entry/608649"">608649</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21856041"">21856041</a>
 著者        Khnykin D, Ronnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL
 タイトル      Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.
 雑誌        J Am Acad Dermatol 66:606-16 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2011.04.014"">10.1016/j.jaad.2011.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19119129"">19119129</a>
 著者        Bygum A, Westermark P, Brandrup F
 タイトル      Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype.
 雑誌        J Am Acad Dermatol 59:S71-4 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2008.06.014"">10.1016/j.jaad.2008.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19631310"">19631310</a>
 著者        Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, Vahlquist A, Bouadjar B, Dahl N, Fischer J
 タイトル      Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
 雑誌        Am J Hum Genet 85:248-53 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.021"">10.1016/j.ajhg.2009.06.021</a>"
H00742,NISCH 症候群,,,"Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis.",先天奇形,,CLDN1 [HSA:9076] [KO:K06087],,,,,,"ICD-11: DB96.2Y
 MeSH: C564365
 OMIM: 607626","PMID:21865982
 著者        Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM
 タイトル      Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
 雑誌        J Pediatr Gastroenterol Nutr 53:350-4 (2011)
 DOI:10.1097/MPG.0b013e3182169433
 PMID:22030598
 著者        Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E
 タイトル      Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability.
 雑誌        Hepatology 55:1249-59 (2012)
 DOI:10.1002/hep.24761
 PMID:15768832
 著者        Carlton VE, Pawlikowska L, Bull LN
 タイトル      Molecular basis of intrahepatic cholestasis.
 雑誌        Ann Med 36:606-17 (2004)
 DOI:10.1080/07853890410018916","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00742"">H00742</a>",NISCH 症候群,"Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis.",,"CLDN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9076"">9076</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]",,,,,,"ICD-11: DB96.2Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564365"">C564365</a>
 OMIM: <a href=""https://www.omim.org/entry/607626"">607626</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21865982"">21865982</a>
 著者        Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM
 タイトル      Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
 雑誌        J Pediatr Gastroenterol Nutr 53:350-4 (2011)
 DOI:<a href=""https://doi.org/10.1097/MPG.0b013e3182169433"">10.1097/MPG.0b013e3182169433</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22030598"">22030598</a>
 著者        Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E
 タイトル      Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability.
 雑誌        Hepatology 55:1249-59 (2012)
 DOI:<a href=""https://doi.org/10.1002/hep.24761"">10.1002/hep.24761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15768832"">15768832</a>
 著者        Carlton VE, Pawlikowska L, Bull LN
 タイトル      Molecular basis of intrahepatic cholestasis.
 雑誌        Ann Med 36:606-17 (2004)
 DOI:<a href=""https://doi.org/10.1080/07853890410018916"">10.1080/07853890410018916</a>"
H00743,"先天性パラミオトニー
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:H01780]",,,"Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A.",神経系疾患; 筋骨格疾患,,SCN4A [HSA:6329] [KO:K04837],,,,,"PMC mutations are concentrated around exons 22 and 24 of SCN4A, the commonest mutations being the Thr1313Met mutation and a variety of substitutions at position 1448.","ICD-11: 8C74.0
 ICD-10: G71.1
 MeSH: D020967
 OMIM: 168300","PMID:20634695
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:19571750
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:10.1097/WCO.0b013e32832efa8f
 PMID:17395134 (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:10.1016/j.nurt.2007.01.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00743"">H00743</a>","先天性パラミオトニー
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01780"">H01780</a>]","Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A.",,"SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]",,,,,"PMC mutations are concentrated around exons 22 and 24 of SCN4A, the commonest mutations being the Thr1313Met mutation and a variety of substitutions at position 1448.","ICD-11: 8C74.0
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020967"">D020967</a>
 OMIM: <a href=""https://www.omim.org/entry/168300"">168300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19571750"">19571750</a>
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832efa8f"">10.1097/WCO.0b013e32832efa8f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17395134"">17395134</a> (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nurt.2007.01.012"">10.1016/j.nurt.2007.01.012</a>"
H00744,"カリウム惹起性ミオトニー;
 ナトリウムチャネルミオトニー
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:H01780]",,,"Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: (1) the myotonia is exacerbated by potassium ingestion; (2) the myotonia does not worsen with cold exposure; and (3) there is no major weakness.",神経系疾患; 筋骨格疾患,,SCN4A [HSA:6329] [KO:K04837],,,,,,"ICD-11: 8C71.2
 ICD-10: G71.1
 MeSH: C538353
 OMIM: 608390","PMID:20634695
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:19571750
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:10.1097/WCO.0b013e32832efa8f
 PMID:17395134 (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:10.1016/j.nurt.2007.01.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00744"">H00744</a>","カリウム惹起性ミオトニー;
 ナトリウムチャネルミオトニー
 上位グループ    非ジストロフィー性ミオトニー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01780"">H01780</a>]","Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with very similar phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: (1) the myotonia is exacerbated by potassium ingestion; (2) the myotonia does not worsen with cold exposure; and (3) there is no major weakness.",,"SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]",,,,,,"ICD-11: 8C71.2
 ICD-10: G71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538353"">C538353</a>
 OMIM: <a href=""https://www.omim.org/entry/608390"">608390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19571750"">19571750</a>
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832efa8f"">10.1097/WCO.0b013e32832efa8f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17395134"">17395134</a> (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nurt.2007.01.012"">10.1016/j.nurt.2007.01.012</a>"
H00745,"高カリウム血性周期性四肢麻痺
 上位グループ    遺伝性周期性四肢麻痺 [DS:H00215]",,,"The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with variations in serum potassium concentration. Hyperkalemic periodic paralysis (HyperPP) is caused by gain-of-function mutations in the alpha-subunit of the skeletal muscle voltage-gated sodium channel, Nav1.4. However, 20% of cases remain genetically undefined, suggesting genetic heterogeneity. HyperPP is characterized by attacks of flaccid limb paralysis or, rarely, weakness of the eye and throat muscles. Triggers for these attacks include ingestion of potassium-rich food, rest after strenuous exercise, and cold exposure.",神経系疾患; 筋骨格疾患; 先天性代謝異常症,,SCN4A [HSA:6329] [KO:K04837],,,,,The T704M and M1592V mutations in the SCN4A gene account for the majority of cases.,"ICD-11: 8C74.11
 ICD-10: G72.3
 MeSH: D020513
 OMIM: 170500","PMID:20634695
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:19571750
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:10.1097/WCO.0b013e32832efa8f
 PMID:17395134 (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:10.1016/j.nurt.2007.01.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00745"">H00745</a>","高カリウム血性周期性四肢麻痺
 上位グループ    遺伝性周期性四肢麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00215"">H00215</a>]","The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with variations in serum potassium concentration. Hyperkalemic periodic paralysis (HyperPP) is caused by gain-of-function mutations in the alpha-subunit of the skeletal muscle voltage-gated sodium channel, Nav1.4. However, 20% of cases remain genetically undefined, suggesting genetic heterogeneity. HyperPP is characterized by attacks of flaccid limb paralysis or, rarely, weakness of the eye and throat muscles. Triggers for these attacks include ingestion of potassium-rich food, rest after strenuous exercise, and cold exposure.",,"SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]",,,,,The T704M and M1592V mutations in the SCN4A gene account for the majority of cases.,"ICD-11: 8C74.11
 ICD-10: G72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020513"">D020513</a>
 OMIM: <a href=""https://www.omim.org/entry/170500"">170500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19571750"">19571750</a>
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832efa8f"">10.1097/WCO.0b013e32832efa8f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17395134"">17395134</a> (drug)
 著者        Heatwole CR, Moxley RT 3rd
 タイトル      The nondystrophic myotonias.
 雑誌        Neurotherapeutics 4:238-51 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nurt.2007.01.012"">10.1016/j.nurt.2007.01.012</a>"
H00746,"低カリウム血性周期性四肢麻痺
 上位グループ    遺伝性周期性四肢麻痺 [DS:H00215]",,,"Hypokalemic periodic paralysis (HypoPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium and calcium channel genes in skeletal muscle. In general, HypoPP is characterized by reversible attacks of muscle weakness concomitant with decreased blood potassium concentrations. HypoPP is associated with point mutations in both CACNA1S (HypoPP1) and SCN4A (HypoPP2).",神経系疾患; 筋骨格疾患; 先天性代謝異常症,,"(HypoPP1) CACNA1S [HSA:779] [KO:K04857]
 (HypoPP2) SCN4A [HSA:6329] [KO:K04837]",,,,"塩化カリウム [DR:D02060]
 L-アスパラギン酸カリウム [DR:D04948]
 アスパラギン酸カリウム・マグネシウム [DR:D04952]",,"ICD-11: 8C74.10
 ICD-10: G72.3
 MeSH: D020514
 OMIM: 170400 613345","PMID:20634695 (description, gene, drug)
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:19571750
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:10.1097/WCO.0b013e32832efa8f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00746"">H00746</a>","低カリウム血性周期性四肢麻痺
 上位グループ    遺伝性周期性四肢麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00215"">H00215</a>]","Hypokalemic periodic paralysis (HypoPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium and calcium channel genes in skeletal muscle. In general, HypoPP is characterized by reversible attacks of muscle weakness concomitant with decreased blood potassium concentrations. HypoPP is associated with point mutations in both CACNA1S (HypoPP1) and SCN4A (HypoPP2).",,"(HypoPP1) CACNA1S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:779"">779</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04857"">K04857</a>]
 (HypoPP2) SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]",,,,"塩化カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02060"">D02060</a>]
 L-アスパラギン酸カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04948"">D04948</a>]
 アスパラギン酸カリウム・マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04952"">D04952</a>]",,"ICD-11: 8C74.10
 ICD-10: G72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020514"">D020514</a>
 OMIM: <a href=""https://www.omim.org/entry/170400"">170400</a> <a href=""https://www.omim.org/entry/613345"">613345</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19571750"">19571750</a>
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832efa8f"">10.1097/WCO.0b013e32832efa8f</a>"
H00747,低カリウム性甲状腺中毒性周期性四肢麻痺,,,"Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often affected, but all ethnicities can present with TPP. Hypokalemia is typical during paralysis, but is not always detected; administration of potassium during the attacks should be offered cautiously, preferably orally, to prevent rebound hyperkalemia. Mutations have been identified in TPP patients in an inwardly rectifying potassium channel, , that is expressed in muscle and transcriptionally regulated by thyroid hormone. Mutations in Kir2.6, which occur in up to 33% of patients, reinforces the hypothesis of genetic heterogeneity in patients with TPP.",神経系疾患; 筋骨格疾患; 先天性代謝異常症,,KCNJ18 [HSA:100134444] [KO:K05005],,,,,,"ICD-11: 8C74.1Y
 ICD-10: G72.3
 OMIM: 613239","PMID:20634695
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:21556020 (description, gene, drug)
 著者        Maciel RM, Lindsey SC, Dias da Silva MR
 タイトル      Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.
 雑誌        Nat Rev Endocrinol 7:657-67 (2011)
 DOI:10.1038/nrendo.2011.58","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00747"">H00747</a>",低カリウム性甲状腺中毒性周期性四肢麻痺,"Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often affected, but all ethnicities can present with TPP. Hypokalemia is typical during paralysis, but is not always detected; administration of potassium during the attacks should be offered cautiously, preferably orally, to prevent rebound hyperkalemia. Mutations have been identified in TPP patients in an inwardly rectifying potassium channel, , that is expressed in muscle and transcriptionally regulated by thyroid hormone. Mutations in Kir2.6, which occur in up to 33% of patients, reinforces the hypothesis of genetic heterogeneity in patients with TPP.",,"KCNJ18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100134444"">100134444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05005"">K05005</a>]",,,,,,"ICD-11: 8C74.1Y
 ICD-10: G72.3
 OMIM: <a href=""https://www.omim.org/entry/613239"">613239</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21556020"">21556020</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Maciel RM, Lindsey SC, Dias da Silva MR
 タイトル      Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.
 雑誌        Nat Rev Endocrinol 7:657-67 (2011)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2011.58"">10.1038/nrendo.2011.58</a>"
H00748,"Andersen-Tawil 症候群
 上位グループ    遺伝性周期性四肢麻痺 [DS:H00215]",,,"Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis. The distinctive physical features considered characteristic of ATS are: broad forehead, hypoplastic mandible, hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly of the toes. It is obvious that ATS has a high degree of phenotypic heterogeneity. ATS patients have loss-of-function mutations in the KCNJ2 gene, which encodes the voltage-gated inward rectifier potassium channel, Kir2.1. However, described KCNJ2 mutations only account for approximately 60% of diagnoses, suggesting genetic heterogeneity.",先天奇形,,KCNJ2 [HSA:3759] [KO:K04996],,,,,,"ICD-11: 8C74.1Y BC65.0
 ICD-10: G72.3
 MeSH: D050030
 OMIM: 170390","PMID:20634695 (description, gene, drug)
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:10.1097/WCO.0b013e32833cc97e
 PMID:19571750
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:10.1097/WCO.0b013e32832efa8f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00748"">H00748</a>","Andersen-Tawil 症候群
 上位グループ    遺伝性周期性四肢麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00215"">H00215</a>]","Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis. The distinctive physical features considered characteristic of ATS are: broad forehead, hypoplastic mandible, hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly of the toes. It is obvious that ATS has a high degree of phenotypic heterogeneity. ATS patients have loss-of-function mutations in the KCNJ2 gene, which encodes the voltage-gated inward rectifier potassium channel, Kir2.1. However, described KCNJ2 mutations only account for approximately 60% of diagnoses, suggesting genetic heterogeneity.",,"KCNJ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3759"">3759</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04996"">K04996</a>]",,,,,,"ICD-11: 8C74.1Y BC65.0
 ICD-10: G72.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050030"">D050030</a>
 OMIM: <a href=""https://www.omim.org/entry/170390"">170390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20634695"">20634695</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Raja Rayan DL, Hanna MG
 タイトル      Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
 雑誌        Curr Opin Neurol 23:466-76 (2010)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32833cc97e"">10.1097/WCO.0b013e32833cc97e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19571750"">19571750</a>
 著者        Platt D, Griggs R
 タイトル      Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
 雑誌        Curr Opin Neurol 22:524-31 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832efa8f"">10.1097/WCO.0b013e32832efa8f</a>"
H00749,発作性運動失調症,,,"Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant EAs and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring in single families, and gene mutations have not been identified in all. It is quite likely, however, that the number of phenotypes and mutated genes will grow further.",神経系疾患,,"(EA1) KCNA1 [HSA:3736] [KO:K04874]
 (EA2) CACNA1A [HSA:773] [KO:K04344]
 (EA5) CACNB4 [HSA:785] [KO:K04865]
 (EA6) SLC1A3 [HSA:6507] [KO:K05614]
 (EA9) SCN2A [HSA:6326] [KO:K04834]",,,,,,"ICD-11: 8A03.14
 ICD-10: G11.8
 OMIM: 160120 108500 613855 612656 618924","PMID:19650351
 著者        Finsterer J
 タイトル      Ataxias with autosomal, X-chromosomal or maternal inheritance.
 雑誌        Can J Neurol Sci 36:409-28 (2009)
 DOI:10.1017/S0317167100007733
 PMID:19734086
 著者        Tomlinson SE, Hanna MG, Kullmann DM, Tan SV, Burke D
 タイトル      Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.
 雑誌        Clin Neurophysiol 120:1768-76 (2009)
 DOI:10.1016/j.clinph.2009.07.003
 PMID:9600245 (KCNA1)
 著者        Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH
 タイトル      Three novel KCNA1 mutations in episodic ataxia type I families.
 雑誌        Hum Genet 102:464-6 (1998)
 DOI:10.1007/s004390050722
 PMID:14681882 (CACNA1A)
 著者        Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM
 タイトル      Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
 雑誌        Ann Neurol 54:725-31 (2003)
 DOI:10.1002/ana.10756
 PMID:10762541 (CACNB4)
 著者        Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
 タイトル      Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
 雑誌        Am J Hum Genet 66:1531-9 (2000)
 DOI:10.1086/302909
 PMID:19139306 (SLC1A3)
 著者        de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM
 タイトル      Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
 雑誌        Arch Neurol 66:97-101 (2009)
 DOI:10.1001/archneurol.2008.535
 PMID:30165711 (SCN2A)
 著者        Fazeli W, Becker K, Herkenrath P, Duchting C, Korber F, Landgraf P, Nurnberg P, Altmuller J, Thiele H, Koy A, Liebau MC, Simon T, Dotsch J, Cirak S
 タイトル      Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
 雑誌        Neuropediatrics 49:379-384 (2018)
 DOI:10.1055/s-0038-1668141","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00749"">H00749</a>",発作性運動失調症,"Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant EAs and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring in single families, and gene mutations have not been identified in all. It is quite likely, however, that the number of phenotypes and mutated genes will grow further.",,"(EA1) KCNA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3736"">3736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04874"">K04874</a>]
 (EA2) CACNA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:773"">773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04344"">K04344</a>]
 (EA5) CACNB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:785"">785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04865"">K04865</a>]
 (EA6) SLC1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6507"">6507</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05614"">K05614</a>]
 (EA9) SCN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6326"">6326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04834"">K04834</a>]",,,,,,"ICD-11: 8A03.14
 ICD-10: G11.8
 OMIM: <a href=""https://www.omim.org/entry/160120"">160120</a> <a href=""https://www.omim.org/entry/108500"">108500</a> <a href=""https://www.omim.org/entry/613855"">613855</a> <a href=""https://www.omim.org/entry/612656"">612656</a> <a href=""https://www.omim.org/entry/618924"">618924</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19650351"">19650351</a>
 著者        Finsterer J
 タイトル      Ataxias with autosomal, X-chromosomal or maternal inheritance.
 雑誌        Can J Neurol Sci 36:409-28 (2009)
 DOI:<a href=""https://doi.org/10.1017/S0317167100007733"">10.1017/S0317167100007733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19734086"">19734086</a>
 著者        Tomlinson SE, Hanna MG, Kullmann DM, Tan SV, Burke D
 タイトル      Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.
 雑誌        Clin Neurophysiol 120:1768-76 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.clinph.2009.07.003"">10.1016/j.clinph.2009.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9600245"">9600245</a> (KCNA1)
 著者        Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH
 タイトル      Three novel KCNA1 mutations in episodic ataxia type I families.
 雑誌        Hum Genet 102:464-6 (1998)
 DOI:<a href=""https://doi.org/10.1007/s004390050722"">10.1007/s004390050722</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14681882"">14681882</a> (CACNA1A)
 著者        Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM
 タイトル      Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
 雑誌        Ann Neurol 54:725-31 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10756"">10.1002/ana.10756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10762541"">10762541</a> (CACNB4)
 著者        Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
 タイトル      Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
 雑誌        Am J Hum Genet 66:1531-9 (2000)
 DOI:<a href=""https://doi.org/10.1086/302909"">10.1086/302909</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19139306"">19139306</a> (SLC1A3)
 著者        de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM
 タイトル      Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
 雑誌        Arch Neurol 66:97-101 (2009)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2008.535"">10.1001/archneurol.2008.535</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30165711"">30165711</a> (SCN2A)
 著者        Fazeli W, Becker K, Herkenrath P, Duchting C, Korber F, Landgraf P, Nurnberg P, Altmuller J, Thiele H, Koy A, Liebau MC, Simon T, Dotsch J, Cirak S
 タイトル      Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
 雑誌        Neuropediatrics 49:379-384 (2018)
 DOI:<a href=""https://doi.org/10.1055/s-0038-1668141"">10.1055/s-0038-1668141</a>"
H00750,"萎縮性毛孔性角化症
 下位グループ    禿髪性棘状毛嚢性角化症 (KFSD)",,,"Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD) and atrophoderma vermiculatum (AV).",先天奇形,,"(KFSD) MBTPS2 [HSA:51360] [KO:K07765]
 (KFSD) SAT1 [HSA:6303] [KO:K00657]
 (KPA) LRP1 [HSA:4035] [KO:K04550]",,,,,,"ICD-11: ED56
 ICD-10: Q82.8
 MeSH: C536159
 OMIM: 308800 612843 604093","PMID:18984066
 著者        Castori M, Covaciu C, Paradisi M, Zambruno G
 タイトル      Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.
 雑誌        Eur J Med Genet 52:53-8 (2009)
 DOI:10.1016/j.ejmg.2008.09.005
 PMID:18280351
 著者        Bellet JS, Kaplan AL, Selim MA, Olsen EA
 タイトル      Keratosis follicularis spinulosa decalvans in a family.
 雑誌        J Am Acad Dermatol 58:499-502 (2008)
 DOI:10.1016/j.jaad.2007.03.028
 PMID:20672378
 著者        Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT
 タイトル      Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
 雑誌        Hum Mutat 31:1125-33 (2010)
 DOI:10.1002/humu.21335
 PMID:12215835
 著者        Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M
 タイトル      Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
 雑誌        Hum Genet 111:235-41 (2002)
 DOI:10.1007/s00439-002-0791-6
 PMID:26142438
 著者        Klar J, Schuster J, Khan TN, Jameel M, Mabert K, Forsberg L, Baig SA, Baig SM, Dahl N
 タイトル      Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
 雑誌        J Med Genet 52:599-606 (2015)
 DOI:10.1136/jmedgenet-2014-102931","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00750"">H00750</a>","萎縮性毛孔性角化症
 下位グループ    禿髪性棘状毛嚢性角化症 (KFSD)","Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD) and atrophoderma vermiculatum (AV).",,"(KFSD) MBTPS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51360"">51360</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07765"">K07765</a>]
 (KFSD) SAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6303"">6303</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00657"">K00657</a>]
 (KPA) LRP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4035"">4035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04550"">K04550</a>]",,,,,,"ICD-11: ED56
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536159"">C536159</a>
 OMIM: <a href=""https://www.omim.org/entry/308800"">308800</a> <a href=""https://www.omim.org/entry/612843"">612843</a> <a href=""https://www.omim.org/entry/604093"">604093</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18984066"">18984066</a>
 著者        Castori M, Covaciu C, Paradisi M, Zambruno G
 タイトル      Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.
 雑誌        Eur J Med Genet 52:53-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2008.09.005"">10.1016/j.ejmg.2008.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18280351"">18280351</a>
 著者        Bellet JS, Kaplan AL, Selim MA, Olsen EA
 タイトル      Keratosis follicularis spinulosa decalvans in a family.
 雑誌        J Am Acad Dermatol 58:499-502 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2007.03.028"">10.1016/j.jaad.2007.03.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20672378"">20672378</a>
 著者        Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT
 タイトル      Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
 雑誌        Hum Mutat 31:1125-33 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21335"">10.1002/humu.21335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12215835"">12215835</a>
 著者        Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M
 タイトル      Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
 雑誌        Hum Genet 111:235-41 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0791-6"">10.1007/s00439-002-0791-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26142438"">26142438</a>
 著者        Klar J, Schuster J, Khan TN, Jameel M, Mabert K, Forsberg L, Baig SA, Baig SM, Dahl N
 タイトル      Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
 雑誌        J Med Genet 52:599-606 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102931"">10.1136/jmedgenet-2014-102931</a>"
H00751,"窒息性胸郭ジストロフィー;
 ジューヌ症候群
 上位グループ    短肋骨胸郭異形成症 [DS:H02157]",,,"Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs.",先天奇形,,"(ATD2) IFT80 [HSA:57560] [KO:K19678]
 (ATD3) DYNC2H1 [HSA:79659] [KO:K10414]
 (ATD4) TTC21B [HSA:79809] [KO:K19673]
 (ATD5) WDR19 [HSA:57728] [KO:K19671]",,,,,,"ICD-11: LD24.B1
 ICD-10: Q77.2
 MeSH: C537571 C566982
 OMIM: 611263 613091 613819 614376","PMID:19644333
 著者        Campbell RM Jr
 タイトル      Spine deformities in rare congenital syndromes: clinical issues.
 雑誌        Spine (Phila Pa 1976) 34:1815-27 (2009)
 DOI:10.1097/BRS.0b013e3181ab64e9
 PMID:21465651
 著者        Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
 タイトル      Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
 雑誌        Am J Med Genet A 155A:1021-32 (2011)
 DOI:10.1002/ajmg.a.33892
 PMID:17468754 (IFT80)
 著者        Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
 タイトル      IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
 雑誌        Nat Genet 39:727-9 (2007)
 DOI:10.1038/ng2038
 PMID:19442771 (DYNC2H1)
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:10.1016/j.ajhg.2009.04.016
 PMID:21258341 (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:10.1038/ng.756
 PMID:22019273 (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:10.1016/j.ajhg.2011.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00751"">H00751</a>","窒息性胸郭ジストロフィー;
 ジューヌ症候群
 上位グループ    短肋骨胸郭異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02157"">H02157</a>]","Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs.",,"(ATD2) IFT80 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57560"">57560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19678"">K19678</a>]
 (ATD3) DYNC2H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79659"">79659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10414"">K10414</a>]
 (ATD4) TTC21B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79809"">79809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19673"">K19673</a>]
 (ATD5) WDR19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57728"">57728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19671"">K19671</a>]",,,,,,"ICD-11: LD24.B1
 ICD-10: Q77.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537571"">C537571</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566982"">C566982</a>
 OMIM: <a href=""https://www.omim.org/entry/611263"">611263</a> <a href=""https://www.omim.org/entry/613091"">613091</a> <a href=""https://www.omim.org/entry/613819"">613819</a> <a href=""https://www.omim.org/entry/614376"">614376</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19644333"">19644333</a>
 著者        Campbell RM Jr
 タイトル      Spine deformities in rare congenital syndromes: clinical issues.
 雑誌        Spine (Phila Pa 1976) 34:1815-27 (2009)
 DOI:<a href=""https://doi.org/10.1097/BRS.0b013e3181ab64e9"">10.1097/BRS.0b013e3181ab64e9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21465651"">21465651</a>
 著者        Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
 タイトル      Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
 雑誌        Am J Med Genet A 155A:1021-32 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33892"">10.1002/ajmg.a.33892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17468754"">17468754</a> (IFT80)
 著者        Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
 タイトル      IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
 雑誌        Nat Genet 39:727-9 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2038"">10.1038/ng2038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19442771"">19442771</a> (DYNC2H1)
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.016"">10.1016/j.ajhg.2009.04.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21258341"">21258341</a> (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.756"">10.1038/ng.756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22019273"">22019273</a> (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.001"">10.1016/j.ajhg.2011.10.001</a>"
H00752,Hay–Wells 症候群 及び Rapp–Hodgkin 症候群,,,"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft lip/palate. Ectodermal findings include hair, nail, teeth and sweat gland dystrophies.",先天奇形,,TP63 [HSA:8626] [KO:K10149],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C535847 C535289
 OMIM: 106260 129400","PMID:20556892
 著者        Sutton VR, Bree AF, van Bokhoven H
 タイトル      Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
 雑誌        GeneReviews (1993)
 PMID:20491771
 著者        Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA
 タイトル      Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
 雑誌        Br J Dermatol 163:624-9 (2010)
 DOI:10.1111/j.1365-2133.2010.09859.x
 PMID:19953814
 著者        Tosun G, Elbay U
 タイトル      Rapp-Hodgkin syndrome: clinical and dental findings.
 雑誌        J Clin Pediatr Dent 34:71-5 (2009)
 DOI:10.17796/jcpd.34.1.kr015833p1qg6873","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00752"">H00752</a>",Hay–Wells 症候群 及び Rapp–Hodgkin 症候群,"Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft lip/palate. Ectodermal findings include hair, nail, teeth and sweat gland dystrophies.",,"TP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8626"">8626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10149"">K10149</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535847"">C535847</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535289"">C535289</a>
 OMIM: <a href=""https://www.omim.org/entry/106260"">106260</a> <a href=""https://www.omim.org/entry/129400"">129400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20556892"">20556892</a>
 著者        Sutton VR, Bree AF, van Bokhoven H
 タイトル      Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20491771"">20491771</a>
 著者        Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA
 タイトル      Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
 雑誌        Br J Dermatol 163:624-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.09859.x"">10.1111/j.1365-2133.2010.09859.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19953814"">19953814</a>
 著者        Tosun G, Elbay U
 タイトル      Rapp-Hodgkin syndrome: clinical and dental findings.
 雑誌        J Clin Pediatr Dent 34:71-5 (2009)
 DOI:<a href=""https://doi.org/10.17796/jcpd.34.1.kr015833p1qg6873"">10.17796/jcpd.34.1.kr015833p1qg6873</a>"
H00753,Urofacial 症候群,,,The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients with UFS leads to recurrent urinary tract infection and subsequent renal failure.,泌尿器系疾患,,"(UFS1) HPSE2 [HSA:60495] [KO:K07965]
 (UFS2) LRIG2 [HSA:9860] [KO:K24609]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: N31.8
 MeSH: C536480
 OMIM: 236730 615112","PMID:21332471
 著者        Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nurnberg G, Hassan SA, Rana S, Nurnberg P, Hubner CA
 タイトル      First HPSE2 missense mutation in urofacial syndrome.
 雑誌        Clin Genet 81:88-92 (2012)
 DOI:10.1111/j.1399-0004.2011.01649.x
 PMID:20560209
 著者        Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY
 タイトル      Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
 雑誌        Am J Hum Genet 86:957-62 (2010)
 DOI:10.1016/j.ajhg.2010.04.016
 PMID:20560210
 著者        Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG
 タイトル      Mutations in HPSE2 cause urofacial syndrome.
 雑誌        Am J Hum Genet 86:963-9 (2010)
 DOI:10.1016/j.ajhg.2010.05.006
 PMID:23313374
 著者        Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gulpinar O, Suer E, Soygur T, Ozcakar ZB, Yalcinkaya F, Kavaz A, Bulum B, Gucuk A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG
 タイトル      LRIG2 mutations cause urofacial syndrome.
 雑誌        Am J Hum Genet 92:259-64 (2013)
 DOI:10.1016/j.ajhg.2012.12.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00753"">H00753</a>",Urofacial 症候群,The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients with UFS leads to recurrent urinary tract infection and subsequent renal failure.,,"(UFS1) HPSE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60495"">60495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07965"">K07965</a>]
 (UFS2) LRIG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9860"">9860</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24609"">K24609</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: N31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536480"">C536480</a>
 OMIM: <a href=""https://www.omim.org/entry/236730"">236730</a> <a href=""https://www.omim.org/entry/615112"">615112</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21332471"">21332471</a>
 著者        Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nurnberg G, Hassan SA, Rana S, Nurnberg P, Hubner CA
 タイトル      First HPSE2 missense mutation in urofacial syndrome.
 雑誌        Clin Genet 81:88-92 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01649.x"">10.1111/j.1399-0004.2011.01649.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20560209"">20560209</a>
 著者        Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY
 タイトル      Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
 雑誌        Am J Hum Genet 86:957-62 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.016"">10.1016/j.ajhg.2010.04.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20560210"">20560210</a>
 著者        Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG
 タイトル      Mutations in HPSE2 cause urofacial syndrome.
 雑誌        Am J Hum Genet 86:963-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.05.006"">10.1016/j.ajhg.2010.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23313374"">23313374</a>
 著者        Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gulpinar O, Suer E, Soygur T, Ozcakar ZB, Yalcinkaya F, Kavaz A, Bulum B, Gucuk A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG
 タイトル      LRIG2 mutations cause urofacial syndrome.
 雑誌        Am J Hum Genet 92:259-64 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.12.002"">10.1016/j.ajhg.2012.12.002</a>"
H00754,"3-メチルグルタコン酸尿症
 下位グループ    バース症候群 (MGCA2) [DS:H00654]",,,3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized.,先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation","(MGCA1) AUH [HSA:549] [KO:K05607]
 (MGCA2) TAFAZZIN [HSA:6901] [KO:K13511]
 (MGCA3) OPA3 [HSA:80207] [KO:K23166]
 (MGCA5) DNAJC19 [HSA:131118] [KO:K09539]
 (MGCA6) SERAC1 [HSA:84947] [KO:K23504]
 (MGCA7) CLPB [HSA:81570] [KO:K03695]
 (MGCA8) HTRA2 [HSA:27429] [KO:K08669]
 (MGCA9) TIMM50 [HSA:92609] [KO:K17496]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C579867
 OMIM: 250950 302060 258501 610198 614739 616271 617248 617698","PMID:15719488
 著者        Gunay-Aygun M
 タイトル      3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
 雑誌        Mol Genet Metab 84:1-3 (2005)
 DOI:10.1016/j.ymgme.2004.12.003
 PMID:12434311 (AUH)
 著者        IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ
 タイトル      3-Methylglutaconic aciduria type I is caused by mutations in AUH.
 雑誌        Am J Hum Genet 71:1463-6 (2002)
 DOI:10.1086/344712
 PMID:20350831 (OPA3)
 著者        Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y
 タイトル      OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
 雑誌        Mol Genet Metab 100:149-54 (2010)
 DOI:10.1016/j.ymgme.2010.03.005
 PMID:16055927 (DNAJC19)
 著者        Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP
 タイトル      Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
 雑誌        J Med Genet 43:385-93 (2006)
 DOI:10.1136/jmg.2005.036657
 PMID:23918762 (SERAC1)
 著者        Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H
 タイトル      Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
 雑誌        Am J Med Genet A 161A:2204-15 (2013)
 DOI:10.1002/ajmg.a.36059
 PMID:25597510 (CLPB)
 著者        Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA
 タイトル      CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
 雑誌        Am J Hum Genet 96:245-57 (2015)
 DOI:10.1016/j.ajhg.2014.12.013
 PMID:27208207 (HTRA2)
 著者        Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O
 タイトル      Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
 雑誌        J Med Genet 53:690-6 (2016)
 DOI:10.1136/jmedgenet-2016-103922
 PMID:27573165 (TIMM50)
 著者        Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC
 タイトル      Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
 雑誌        Clin Genet 91:690-696 (2017)
 DOI:10.1111/cge.12855","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00754"">H00754</a>","3-メチルグルタコン酸尿症
 下位グループ    バース症候群 (MGCA2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00654"">H00654</a>]",3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized.,"<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","(MGCA1) AUH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:549"">549</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05607"">K05607</a>]
 (MGCA2) TAFAZZIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6901"">6901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13511"">K13511</a>]
 (MGCA3) OPA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80207"">80207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23166"">K23166</a>]
 (MGCA5) DNAJC19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:131118"">131118</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09539"">K09539</a>]
 (MGCA6) SERAC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84947"">84947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23504"">K23504</a>]
 (MGCA7) CLPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81570"">81570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03695"">K03695</a>]
 (MGCA8) HTRA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27429"">27429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08669"">K08669</a>]
 (MGCA9) TIMM50 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92609"">92609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17496"">K17496</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579867"">C579867</a>
 OMIM: <a href=""https://www.omim.org/entry/250950"">250950</a> <a href=""https://www.omim.org/entry/302060"">302060</a> <a href=""https://www.omim.org/entry/258501"">258501</a> <a href=""https://www.omim.org/entry/610198"">610198</a> <a href=""https://www.omim.org/entry/614739"">614739</a> <a href=""https://www.omim.org/entry/616271"">616271</a> <a href=""https://www.omim.org/entry/617248"">617248</a> <a href=""https://www.omim.org/entry/617698"">617698</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15719488"">15719488</a>
 著者        Gunay-Aygun M
 タイトル      3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
 雑誌        Mol Genet Metab 84:1-3 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.12.003"">10.1016/j.ymgme.2004.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12434311"">12434311</a> (AUH)
 著者        IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ
 タイトル      3-Methylglutaconic aciduria type I is caused by mutations in AUH.
 雑誌        Am J Hum Genet 71:1463-6 (2002)
 DOI:<a href=""https://doi.org/10.1086/344712"">10.1086/344712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20350831"">20350831</a> (OPA3)
 著者        Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y
 タイトル      OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
 雑誌        Mol Genet Metab 100:149-54 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2010.03.005"">10.1016/j.ymgme.2010.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16055927"">16055927</a> (DNAJC19)
 著者        Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP
 タイトル      Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
 雑誌        J Med Genet 43:385-93 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.036657"">10.1136/jmg.2005.036657</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23918762"">23918762</a> (SERAC1)
 著者        Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H
 タイトル      Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
 雑誌        Am J Med Genet A 161A:2204-15 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36059"">10.1002/ajmg.a.36059</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25597510"">25597510</a> (CLPB)
 著者        Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA
 タイトル      CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
 雑誌        Am J Hum Genet 96:245-57 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.013"">10.1016/j.ajhg.2014.12.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27208207"">27208207</a> (HTRA2)
 著者        Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O
 タイトル      Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
 雑誌        J Med Genet 53:690-6 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-103922"">10.1136/jmedgenet-2016-103922</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27573165"">27573165</a> (TIMM50)
 著者        Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC
 タイトル      Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
 雑誌        Clin Genet 91:690-696 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12855"">10.1111/cge.12855</a>"
H00755,肬贅状肢端角化症,,,Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified.,先天奇形,,ATP2A2 [HSA:488] [KO:K05853],,,,,,"ICD-11: EC20.Y
 ICD-10: Q82.8
 MeSH: D007644
 OMIM: 101900","PMID:12542527
 著者        Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
 タイトル      Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.
 雑誌        J Invest Dermatol 120:229-32 (2003)
 DOI:10.1046/j.1523-1747.2003.t01-1-12045.x
 PMID:22028575
 著者        Bang CH, Kim HS, Park YM, Kim HO, Lee JY
 タイトル      Non-familial Acrokeratosis Verruciformis of Hopf.
 雑誌        Ann Dermatol 23 Suppl 1:S61-3 (2011)
 DOI:10.5021/ad.2011.23.S1.S61
 PMID:16150218
 著者        Rallis E, Economidi A, Papadakis P, Verros C
 タイトル      Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature.
 雑誌        Dermatol Online J 11:10 (2005)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00755"">H00755</a>",肬贅状肢端角化症,Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified.,,"ATP2A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:488"">488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05853"">K05853</a>]",,,,,,"ICD-11: EC20.Y
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007644"">D007644</a>
 OMIM: <a href=""https://www.omim.org/entry/101900"">101900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12542527"">12542527</a>
 著者        Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
 タイトル      Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.
 雑誌        J Invest Dermatol 120:229-32 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2003.t01-1-12045.x"">10.1046/j.1523-1747.2003.t01-1-12045.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028575"">22028575</a>
 著者        Bang CH, Kim HS, Park YM, Kim HO, Lee JY
 タイトル      Non-familial Acrokeratosis Verruciformis of Hopf.
 雑誌        Ann Dermatol 23 Suppl 1:S61-3 (2011)
 DOI:<a href=""https://doi.org/10.5021/ad.2011.23.S1.S61"">10.5021/ad.2011.23.S1.S61</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16150218"">16150218</a>
 著者        Rallis E, Economidi A, Papadakis P, Verros C
 タイトル      Acrokeratosis verruciformis of Hopf (Hopf disease): case report and review of the literature.
 雑誌        Dermatol Online J 11:10 (2005)"
H00756,"Pitt-Hopkins 症候群
 下位グループ    Pitt-Hopkins 様症候群 (PTHSL)",,,"Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic of PTHS. The defective gene is TCF4 in PTHS, and in patients who show severe mental retardation and other features resembling PTHS have mutations in CNTNAP2 and Neurexin I.",先天奇形,,"(PTHS) TCF4 [HSA:6925] [KO:K15603]
 (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380]
 (PTHSL2) NRXN1 [HSA:9378] [KO:K07377]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C537403
 OMIM: 610954 610042 614325","PMID:9475596
 著者        Van Balkom ID, Quartel S, Hennekam RC
 タイトル      Mental retardation, ""coarse"" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
 雑誌        Am J Med Genet 75:273-6 (1998)
 DOI:10.1002/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R
 PMID:20205897 (TCF4)
 著者        Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E
 タイトル      Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
 雑誌        Ital J Pediatr 36:12 (2010)
 DOI:10.1186/1824-7288-36-12
 PMID:27439707 (CNTNAP2)
 著者        Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C
 タイトル      Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
 雑誌        J Med Genet 53:820-827 (2016)
 DOI:10.1136/jmedgenet-2016-103880
 PMID:19896112 (CNTNAP2 and NRXN1)
 著者        Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A
 タイトル      CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
 雑誌        Am J Hum Genet 85:655-66 (2009)
 DOI:10.1016/j.ajhg.2009.10.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00756"">H00756</a>","Pitt-Hopkins 症候群
 下位グループ    Pitt-Hopkins 様症候群 (PTHSL)","Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic of PTHS. The defective gene is TCF4 in PTHS, and in patients who show severe mental retardation and other features resembling PTHS have mutations in CNTNAP2 and Neurexin I.",,"(PTHS) TCF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6925"">6925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15603"">K15603</a>]
 (PTHSL1) CNTNAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26047"">26047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07380"">K07380</a>]
 (PTHSL2) NRXN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9378"">9378</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07377"">K07377</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537403"">C537403</a>
 OMIM: <a href=""https://www.omim.org/entry/610954"">610954</a> <a href=""https://www.omim.org/entry/610042"">610042</a> <a href=""https://www.omim.org/entry/614325"">614325</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9475596"">9475596</a>
 著者        Van Balkom ID, Quartel S, Hennekam RC
 タイトル      Mental retardation, ""coarse"" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
 雑誌        Am J Med Genet 75:273-6 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980123)75:"">10.1002/(SICI)1096-8628(19980123)75:</a><a href=""https://doi.org/3<273:"">3<273:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG9>3.0.CO;2-R"">AID-AJMG9>3.0.CO;2-R</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20205897"">20205897</a> (TCF4)
 著者        Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E
 タイトル      Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
 雑誌        Ital J Pediatr 36:12 (2010)
 DOI:<a href=""https://doi.org/10.1186/1824-7288-36-12"">10.1186/1824-7288-36-12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27439707"">27439707</a> (CNTNAP2)
 著者        Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C
 タイトル      Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
 雑誌        J Med Genet 53:820-827 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-103880"">10.1136/jmedgenet-2016-103880</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19896112"">19896112</a> (CNTNAP2 <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/NRXN1)"">NRXN1)</a>
 著者        Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A
 タイトル      CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
 雑誌        Am J Hum Genet 85:655-66 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.10.004"">10.1016/j.ajhg.2009.10.004</a>"
H00757,Dyggve-Melchior-Clausen 病,,,"Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:H02497]",先天奇形,,DYM [HSA:54808] [KO:K23951],,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: C535726
 OMIM: 223800","PMID:15464420
 著者        Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V
 タイトル      Recent advances in Dyggve-Melchior-Clausen syndrome.
 雑誌        Mol Genet Metab 83:51-9 (2004)
 DOI:10.1016/j.ymgme.2004.08.012
 PMID:16470731
 著者        Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
 タイトル      Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
 雑誌        Am J Med Genet A 140:421-6 (2006)
 DOI:10.1002/ajmg.a.31090
 PMID:12499951
 著者        Burns C, Powell BR, Hsia YE, Reinker K
 タイトル      Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
 雑誌        J Pediatr Orthop 23:88-93 (2003)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00757"">H00757</a>",Dyggve-Melchior-Clausen 病,"Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02497"">H02497</a>]",,"DYM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54808"">54808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23951"">K23951</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535726"">C535726</a>
 OMIM: <a href=""https://www.omim.org/entry/223800"">223800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15464420"">15464420</a>
 著者        Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V
 タイトル      Recent advances in Dyggve-Melchior-Clausen syndrome.
 雑誌        Mol Genet Metab 83:51-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2004.08.012"">10.1016/j.ymgme.2004.08.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16470731"">16470731</a>
 著者        Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
 タイトル      Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
 雑誌        Am J Med Genet A 140:421-6 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31090"">10.1002/ajmg.a.31090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12499951"">12499951</a>
 著者        Burns C, Powell BR, Hsia YE, Reinker K
 タイトル      Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
 雑誌        J Pediatr Orthop 23:88-93 (2003)"
H00758,"進行性偽リウマチ性異形成;
 進行性関節症を伴う遅延性脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene.,先天奇形,,WISP3 [HSA:8838] [KO:K23090],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C535387
 OMIM: 208230","PMID:9222963
 著者        el-Shanti HE, Omari HZ, Qubain HI
 タイトル      Progressive pseudorheumatoid dysplasia: report of a family and review.
 雑誌        J Med Genet 34:559-63 (1997)
 DOI:10.1136/jmg.34.7.559
 PMID:17596985
 著者        Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N
 タイトル      Progressive pseudorheumatoid dysplasia: three cases in one family.
 雑誌        Joint Bone Spine 74:393-5 (2007)
 DOI:10.1016/j.jbspin.2006.11.014
 PMID:17483925
 著者        Zhou HD, Bu YH, Peng YQ, Xie H, Wang M, Yuan LQ, Jiang Y, Li D, Wei QY, He YL, Xiao T, Ni JD, Liao EY
 タイトル      Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation.
 雑誌        J Mol Med (Berl) 85:985-96 (2007)
 DOI:10.1007/s00109-007-0193-2
 PMID:16152649
 著者        Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A
 タイトル      Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
 雑誌        Am J Med Genet A 138A:118-26 (2005)
 DOI:10.1002/ajmg.a.30906","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00758"">H00758</a>","進行性偽リウマチ性異形成;
 進行性関節症を伴う遅延性脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]",Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene.,,"WISP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8838"">8838</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23090"">K23090</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535387"">C535387</a>
 OMIM: <a href=""https://www.omim.org/entry/208230"">208230</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9222963"">9222963</a>
 著者        el-Shanti HE, Omari HZ, Qubain HI
 タイトル      Progressive pseudorheumatoid dysplasia: report of a family and review.
 雑誌        J Med Genet 34:559-63 (1997)
 DOI:<a href=""https://doi.org/10.1136/jmg.34.7.559"">10.1136/jmg.34.7.559</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17596985"">17596985</a>
 著者        Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N
 タイトル      Progressive pseudorheumatoid dysplasia: three cases in one family.
 雑誌        Joint Bone Spine 74:393-5 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2006.11.014"">10.1016/j.jbspin.2006.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17483925"">17483925</a>
 著者        Zhou HD, Bu YH, Peng YQ, Xie H, Wang M, Yuan LQ, Jiang Y, Li D, Wei QY, He YL, Xiao T, Ni JD, Liao EY
 タイトル      Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation.
 雑誌        J Mol Med (Berl) 85:985-96 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00109-007-0193-2"">10.1007/s00109-007-0193-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16152649"">16152649</a>
 著者        Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A
 タイトル      Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
 雑誌        Am J Med Genet A 138A:118-26 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30906"">10.1002/ajmg.a.30906</a>"
H00759,ワールデンブルグ症候群,,,"Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3.",先天性代謝異常; 白皮症,,"(WS1/3) PAX3 [HSA:5077] [KO:K09381]
 (WS2A) MITF [HSA:4286] [KO:K09455]
 (WS2D) SNAI2 [HSA:6591] [KO:K05706]
 (WS2E/4C) SOX10 [HSA:6663] [KO:K09270]
 (WS4A) EDNRB [HSA:1910] [KO:K04198]
 (WS4B) EDN3 [HSA:1908] [KO:K05227]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 MeSH: D014849
 OMIM: 193500 193510 608890 611584 148820 277580 613265 613266 609136","PMID:20127975
 著者        Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
 タイトル      Review and update of mutations causing Waardenburg syndrome.
 雑誌        Hum Mutat 31:391-406 (2010)
 DOI:10.1002/humu.21211
 PMID:21856949
 著者        Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C
 タイトル      Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis.
 雑誌        Proc Natl Acad Sci U S A 108:14861-6 (2011)
 DOI:10.1073/pnas.1019070108
 PMID:8447316 (PAX3)
 著者        Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT
 タイトル      Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
 雑誌        Am J Hum Genet 52:455-62 (1993)
 PMID:7874167 (MITF)
 著者        Tassabehji M, Newton VE, Read AP
 タイトル      Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
 雑誌        Nat Genet 8:251-5 (1994)
 DOI:10.1038/ng1194-251
 PMID:12444107 (SNAI2)
 著者        Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I
 タイトル      SLUG (SNAI2) deletions in patients with Waardenburg disease.
 雑誌        Hum Mol Genet 11:3231-6 (2002)
 DOI:10.1093/hmg/11.25.3231
 PMID:9462749 (SOX10, WS4C)
 著者        Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M
 タイトル      SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
 雑誌        Nat Genet 18:171-3 (1998)
 DOI:10.1038/ng0298-171
 PMID:10441344 (SOX10, WS2E)
 著者        Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M
 タイトル      A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
 雑誌        Hum Mol Genet 8:1785-9 (1999)
 DOI:10.1093/hmg/8.9.1785
 PMID:8001158 (EDNRB)
 著者        Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
 タイトル      A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
 雑誌        Cell 79:1257-66 (1994)
 DOI:10.1016/0092-8674(94)90016-7
 PMID:8630502 (EDN3)
 著者        Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S
 タイトル      Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
 雑誌        Nat Genet 12:442-4 (1996)
 DOI:10.1038/ng0496-442","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00759"">H00759</a>",ワールデンブルグ症候群,"Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3.",,"(WS1/3) PAX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5077"">5077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09381"">K09381</a>]
 (WS2A) MITF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4286"">4286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09455"">K09455</a>]
 (WS2D) SNAI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6591"">6591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05706"">K05706</a>]
 (WS2E/4C) SOX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6663"">6663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09270"">K09270</a>]
 (WS4A) EDNRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1910"">1910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04198"">K04198</a>]
 (WS4B) EDN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1908"">1908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05227"">K05227</a>]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014849"">D014849</a>
 OMIM: <a href=""https://www.omim.org/entry/193500"">193500</a> <a href=""https://www.omim.org/entry/193510"">193510</a> <a href=""https://www.omim.org/entry/608890"">608890</a> <a href=""https://www.omim.org/entry/611584"">611584</a> <a href=""https://www.omim.org/entry/148820"">148820</a> <a href=""https://www.omim.org/entry/277580"">277580</a> <a href=""https://www.omim.org/entry/613265"">613265</a> <a href=""https://www.omim.org/entry/613266"">613266</a> <a href=""https://www.omim.org/entry/609136"">609136</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20127975"">20127975</a>
 著者        Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
 タイトル      Review and update of mutations causing Waardenburg syndrome.
 雑誌        Hum Mutat 31:391-406 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21211"">10.1002/humu.21211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21856949"">21856949</a>
 著者        Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C
 タイトル      Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis.
 雑誌        Proc Natl Acad Sci U S A 108:14861-6 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1019070108"">10.1073/pnas.1019070108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8447316"">8447316</a> (PAX3)
 著者        Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT
 タイトル      Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
 雑誌        Am J Hum Genet 52:455-62 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7874167"">7874167</a> (MITF)
 著者        Tassabehji M, Newton VE, Read AP
 タイトル      Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
 雑誌        Nat Genet 8:251-5 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng1194-251"">10.1038/ng1194-251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12444107"">12444107</a> (SNAI2)
 著者        Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I
 タイトル      SLUG (SNAI2) deletions in patients with Waardenburg disease.
 雑誌        Hum Mol Genet 11:3231-6 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.25.3231"">10.1093/hmg/11.25.3231</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9462749"">9462749</a> (SOX10, <a href=""https://pubmed.ncbi.nlm.nih.gov/WS4C)"">WS4C)</a>
 著者        Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M
 タイトル      SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
 雑誌        Nat Genet 18:171-3 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0298-171"">10.1038/ng0298-171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10441344"">10441344</a> (SOX10, <a href=""https://pubmed.ncbi.nlm.nih.gov/WS2E)"">WS2E)</a>
 著者        Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M
 タイトル      A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
 雑誌        Hum Mol Genet 8:1785-9 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.9.1785"">10.1093/hmg/8.9.1785</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8001158"">8001158</a> (EDNRB)
 著者        Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
 タイトル      A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
 雑誌        Cell 79:1257-66 (1994)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(94)90016-7"">10.1016/0092-8674(94)90016-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8630502"">8630502</a> (EDN3)
 著者        Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S
 タイトル      Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
 雑誌        Nat Genet 12:442-4 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0496-442"">10.1038/ng0496-442</a>"
H00760,"遅発性脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.,先天奇形,,TRAPPC2 [HSA:6399] [KO:K20301],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: D010009
 OMIM: 313400","PMID:20301324
 著者        Tiller GE, Hannig VL
 タイトル      X-Linked Spondyloepiphyseal Dysplasia Tarda
 雑誌        GeneReviews (1993)
 PMID:19417549
 著者        Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y
 タイトル      A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
 雑誌        J Genet 88:87-91 (2009)
 DOI:10.1007/s12041-009-0012-3
 PMID:21858081
 著者        Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S
 タイトル      The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
 雑誌        PLoS One 6:e23350 (2011)
 DOI:10.1371/journal.pone.0023350","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00760"">H00760</a>","遅発性脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]",X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.,,"TRAPPC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6399"">6399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20301"">K20301</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/313400"">313400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301324"">20301324</a>
 著者        Tiller GE, Hannig VL
 タイトル      X-Linked Spondyloepiphyseal Dysplasia Tarda
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19417549"">19417549</a>
 著者        Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y
 タイトル      A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
 雑誌        J Genet 88:87-91 (2009)
 DOI:<a href=""https://doi.org/10.1007/s12041-009-0012-3"">10.1007/s12041-009-0012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21858081"">21858081</a>
 著者        Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S
 タイトル      The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
 雑誌        PLoS One 6:e23350 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0023350"">10.1371/journal.pone.0023350</a>"
H00761,"パキスタン型脊椎骨端骨幹端異形成;
 短体幹症 4型
 上位グループ    短体幹症 [DS:H00522]
 脊椎骨端骨幹端異形成 [DS:H02187]",,,"Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported.",先天奇形,,PAPSS2 [HSA:9060] [KO:K13811],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C567551
 OMIM: 612847","PMID:9714015
 著者        Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH
 タイトル      Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
 雑誌        Am J Med Genet 78:468-73 (1998)
 DOI:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D
 PMID:9771708
 著者        Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH
 タイトル      Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
 雑誌        Nat Genet 20:157-62 (1998)
 DOI:10.1038/2458
 PMID:22791835
 著者        Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
 タイトル      PAPSS2 mutations cause autosomal recessive brachyolmia.
 雑誌        J Med Genet 49:533-8 (2012)
 DOI:10.1136/jmedgenet-2012-101039","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00761"">H00761</a>","パキスタン型脊椎骨端骨幹端異形成;
 短体幹症 4型
 上位グループ    短体幹症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00522"">H00522</a>]
 脊椎骨端骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02187"">H02187</a>]","Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported.",,"PAPSS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9060"">9060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13811"">K13811</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567551"">C567551</a>
 OMIM: <a href=""https://www.omim.org/entry/612847"">612847</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9714015"">9714015</a>
 著者        Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH
 タイトル      Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
 雑誌        Am J Med Genet 78:468-73 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980806)78:"">10.1002/(SICI)1096-8628(19980806)78:</a><a href=""https://doi.org/5<468:"">5<468:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG13>3.0.CO;2-D"">AID-AJMG13>3.0.CO;2-D</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9771708"">9771708</a>
 著者        Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH
 タイトル      Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
 雑誌        Nat Genet 20:157-62 (1998)
 DOI:<a href=""https://doi.org/10.1038/2458"">10.1038/2458</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22791835"">22791835</a>
 著者        Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
 タイトル      PAPSS2 mutations cause autosomal recessive brachyolmia.
 雑誌        J Med Genet 49:533-8 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101039"">10.1136/jmedgenet-2012-101039</a>"
H00762,"先天性関節脱臼を伴う脊椎骨端異形成;
 オマーン型脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,"Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1).",先天奇形,,CHST3 [HSA:9469] [KO:K01020],,,,,,"ICD-11: LB9Z
 ICD-10: Q74.8
 MeSH: C535789
 OMIM: 143095","PMID:18698629
 著者        van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP
 タイトル      Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
 雑誌        Am J Med Genet A 146A:2376-84 (2008)
 DOI:10.1002/ajmg.a.32482
 PMID:15602087
 著者        Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G
 タイトル      A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
 雑誌        Clin Dysmorphol 14:13-8 (2005)
 DOI:10.1097/00019605-200501000-00003
 PMID:9678701
 著者        Hall CM, Elcioglu NH, Shaw DG
 タイトル      A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
 雑誌        J Med Genet 35:566-72 (1998)
 DOI:10.1136/jmg.35.7.566","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00762"">H00762</a>","先天性関節脱臼を伴う脊椎骨端異形成;
 オマーン型脊椎骨端異形成
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1).",,"CHST3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9469"">9469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01020"">K01020</a>]",,,,,,"ICD-11: LB9Z
 ICD-10: Q74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535789"">C535789</a>
 OMIM: <a href=""https://www.omim.org/entry/143095"">143095</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18698629"">18698629</a>
 著者        van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP
 タイトル      Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
 雑誌        Am J Med Genet A 146A:2376-84 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32482"">10.1002/ajmg.a.32482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15602087"">15602087</a>
 著者        Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G
 タイトル      A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
 雑誌        Clin Dysmorphol 14:13-8 (2005)
 DOI:<a href=""https://doi.org/10.1097/00019605-200501000-00003"">10.1097/00019605-200501000-00003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9678701"">9678701</a>
 著者        Hall CM, Elcioglu NH, Shaw DG
 タイトル      A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
 雑誌        J Med Genet 35:566-72 (1998)
 DOI:<a href=""https://doi.org/10.1136/jmg.35.7.566"">10.1136/jmg.35.7.566</a>"
H00763,新生児一過性表皮水疱症,,,"Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation of type VII collagen. The disease usually regresses during early life, as type VII collagen secretion gradually recovers.",先天奇形,,COL7A1 [HSA:1294] [KO:K16628],,,,,,"ICD-11: EC32
 ICD-10: Q81.2
 MeSH: C536979
 OMIM: 131705","PMID:9856844
 著者        Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L
 タイトル      Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
 雑誌        J Invest Dermatol 111:1214-9 (1998)
 DOI:10.1046/j.1523-1747.1998.00394.x
 PMID:16225626
 著者        Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA
 タイトル      Transient bullous dermolysis of the newborn in three generations.
 雑誌        Br J Dermatol 153:1058-63 (2005)
 DOI:10.1111/j.1365-2133.2005.06873.x
 PMID:9406826
 著者        Christiano AM, Fine JD, Uitto J
 タイトル      Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
 雑誌        J Invest Dermatol 109:811-4 (1997)
 DOI:10.1111/1523-1747.ep12341013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00763"">H00763</a>",新生児一過性表皮水疱症,"Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation of type VII collagen. The disease usually regresses during early life, as type VII collagen secretion gradually recovers.",,"COL7A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1294"">1294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16628"">K16628</a>]",,,,,,"ICD-11: EC32
 ICD-10: Q81.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536979"">C536979</a>
 OMIM: <a href=""https://www.omim.org/entry/131705"">131705</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9856844"">9856844</a>
 著者        Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L
 タイトル      Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
 雑誌        J Invest Dermatol 111:1214-9 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.1998.00394.x"">10.1046/j.1523-1747.1998.00394.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16225626"">16225626</a>
 著者        Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA
 タイトル      Transient bullous dermolysis of the newborn in three generations.
 雑誌        Br J Dermatol 153:1058-63 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06873.x"">10.1111/j.1365-2133.2005.06873.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9406826"">9406826</a>
 著者        Christiano AM, Fine JD, Uitto J
 タイトル      Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
 雑誌        J Invest Dermatol 109:811-4 (1997)
 DOI:<a href=""https://doi.org/10.1111/1523-1747.ep12341013"">10.1111/1523-1747.ep12341013</a>"
H00764,"5p欠失症候群;
 猫鳴き症候群",,,"The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may be associated with mental retardation in CdCS patients. The TERT deletion may contribute to the phenotypic changes in CdCS.",染色体異常,,"SEMA5A [HSA:9037] [KO:K06841]
 CTNND2 [HSA:1501] [KO:K23491]
 TERT [HSA:7015] [KO:K11126]",,,,,,"ICD-11: LD44.51
 ICD-10: Q93.4
 MeSH: D003410
 OMIM: 123450","PMID:16953888
 著者        Cerruti Mainardi P
 タイトル      Cri du Chat syndrome.
 雑誌        Orphanet J Rare Dis 1:33 (2006)
 DOI:10.1186/1750-1172-1-33
 PMID:9464278
 著者        Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M
 タイトル      Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
 雑誌        Biochem Biophys Res Commun 242:685-91 (1998)
 DOI:10.1006/bbrc.1997.8027
 PMID:10673328
 著者        Medina M, Marinescu RC, Overhauser J, Kosik KS
 タイトル      Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.
 雑誌        Genomics 63:157-64 (2000)
 DOI:10.1006/geno.1999.6090","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00764"">H00764</a>","5p欠失症候群;
 猫鳴き症候群","The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may be associated with mental retardation in CdCS patients. The TERT deletion may contribute to the phenotypic changes in CdCS.",,"SEMA5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9037"">9037</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06841"">K06841</a>]
 CTNND2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1501"">1501</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23491"">K23491</a>]
 TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]",,,,,,"ICD-11: LD44.51
 ICD-10: Q93.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003410"">D003410</a>
 OMIM: <a href=""https://www.omim.org/entry/123450"">123450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16953888"">16953888</a>
 著者        Cerruti Mainardi P
 タイトル      Cri du Chat syndrome.
 雑誌        Orphanet J Rare Dis 1:33 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-33"">10.1186/1750-1172-1-33</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9464278"">9464278</a>
 著者        Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M
 タイトル      Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
 雑誌        Biochem Biophys Res Commun 242:685-91 (1998)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1997.8027"">10.1006/bbrc.1997.8027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10673328"">10673328</a>
 著者        Medina M, Marinescu RC, Overhauser J, Kosik KS
 タイトル      Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.
 雑誌        Genomics 63:157-64 (2000)
 DOI:<a href=""https://doi.org/10.1006/geno.1999.6090"">10.1006/geno.1999.6090</a>"
H00765,"キンバリー型脊椎骨端異形成症
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,"Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened vertebral bodies. Aggrecan, the protein of the proteoglycan of cartilage, is linked to the disease.",先天奇形,,ACAN [HSA:176] [KO:K06792],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C564252
 OMIM: 608361","PMID:16080123
 著者        Gleghorn L, Ramesar R, Beighton P, Wallis G
 タイトル      A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
 雑誌        Am J Hum Genet 77:484-90 (2005)
 DOI:10.1086/444401","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00765"">H00765</a>","キンバリー型脊椎骨端異形成症
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened vertebral bodies. Aggrecan, the protein of the proteoglycan of cartilage, is linked to the disease.",,"ACAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:176"">176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06792"">K06792</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564252"">C564252</a>
 OMIM: <a href=""https://www.omim.org/entry/608361"">608361</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16080123"">16080123</a>
 著者        Gleghorn L, Ramesar R, Beighton P, Wallis G
 タイトル      A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
 雑誌        Am J Hum Genet 77:484-90 (2005)
 DOI:<a href=""https://doi.org/10.1086/444401"">10.1086/444401</a>"
H00766,Wolcott-Rallison 症候群,,,"Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease.",内分泌代謝疾患,,EIF2AK3 [HSA:9451] [KO:K08860],,,,,,"ICD-11: 5A13.6
 ICD-10: E13
 MeSH: C536739
 OMIM: 226980","PMID:21050479
 著者        Julier C, Nicolino M
 タイトル      Wolcott-Rallison syndrome.
 雑誌        Orphanet J Rare Dis 5:29 (2010)
 DOI:10.1186/1750-1172-5-29
 PMID:15384883
 著者        Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG
 タイトル      Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.
 雑誌        Acta Paediatr 93:1195-201 (2004)
 DOI:10.1111/j.1651-2227.2004.tb02748.x
 PMID:12960215
 著者        Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA
 タイトル      Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.
 雑誌        J Med Genet 40:685-9 (2003)
 DOI:10.1136/jmg.40.9.685","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00766"">H00766</a>",Wolcott-Rallison 症候群,"Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease.",,"EIF2AK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9451"">9451</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08860"">K08860</a>]",,,,,,"ICD-11: 5A13.6
 ICD-10: E13
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536739"">C536739</a>
 OMIM: <a href=""https://www.omim.org/entry/226980"">226980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21050479"">21050479</a>
 著者        Julier C, Nicolino M
 タイトル      Wolcott-Rallison syndrome.
 雑誌        Orphanet J Rare Dis 5:29 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-29"">10.1186/1750-1172-5-29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15384883"">15384883</a>
 著者        Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG
 タイトル      Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.
 雑誌        Acta Paediatr 93:1195-201 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2004.tb02748.x"">10.1111/j.1651-2227.2004.tb02748.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12960215"">12960215</a>
 著者        Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA
 タイトル      Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.
 雑誌        J Med Genet 40:685-9 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.9.685"">10.1136/jmg.40.9.685</a>"
H00767,"Matrilin型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:H02187]",,,"SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism. Several other skeletal changes such as lumbar lordosis and flat vertebral bodies characterize the disease.",先天奇形,,MATN3 [HSA:4148] [KO:K19467],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C563869
 OMIM: 608728","PMID:15121775
 著者        Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
 雑誌        J Med Genet 41:366-72 (2004)
 DOI:10.1136/jmg.2003.013342
 PMID:18328979
 著者        Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia.
 雑誌        Best Pract Res Clin Rheumatol 22:33-44 (2008)
 DOI:10.1016/j.berh.2007.12.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00767"">H00767</a>","Matrilin型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02187"">H02187</a>]","SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism. Several other skeletal changes such as lumbar lordosis and flat vertebral bodies characterize the disease.",,"MATN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4148"">4148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19467"">K19467</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563869"">C563869</a>
 OMIM: <a href=""https://www.omim.org/entry/608728"">608728</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15121775"">15121775</a>
 著者        Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
 雑誌        J Med Genet 41:366-72 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.013342"">10.1136/jmg.2003.013342</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328979"">18328979</a>
 著者        Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia.
 雑誌        Best Pract Res Clin Rheumatol 22:33-44 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.12.009"">10.1016/j.berh.2007.12.009</a>"
H00768,"常染色体劣性遺伝性知的発達障害;
 常染色体劣性遺伝性精神遅滞",,,"Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several causative genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.",精神及び行動の障害,,"(MRT1) PRSS12 [HSA:8492] [KO:K09624]
 (MRT2) CRBN [HSA:51185] [KO:K11793]
 (MRT3) CC2D1A [HSA:54862] [KO:K18260]
 (MRT5) NSUN2 [HSA:54888] [KO:K15335]
 (MRT6) GRIK2 [HSA:2898] [KO:K05202]
 (MRT7) TUSC3 [HSA:7991] [KO:K12669]
 (MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
 (MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
 (MRT14) TECR [HSA:9524] [KO:K10258]
 (MRT15) MAN1B1 [HSA:11253] [KO:K23741]
 (MRT18) MED23 [HSA:9439] [KO:K15166]
 (MRT27) LINS1 [HSA:55180] [KO:K22533]
 (MRT34) CRADD [HSA:8738] [KO:K02832]
 (MRT36) ADAT3 [HSA:113179] [KO:K15442]
 (MRT37) ANK3 [HSA:288] [KO:K10380]
 (MRT38) HERC2 [HSA:8924] [KO:K10595]
 (MRT39) TTI2 [HSA:80185] [KO:K23115]
 (MRT40) TAF2 [HSA:6873] [KO:K03128]
 (MRT41) KPTN [HSA:11133] [KO:K23295]
 (MRT42) PGAP1 [HSA:80055] [KO:K05294]
 (MRT43) WASHC4 [HSA:23325] [KO:K18465]
 (MRT44) METTL23 [HSA:124512] [KO:K23151]
 (MRT45) FBXO31 [HSA:79791] [KO:K10308]
 (MRT46) NDST1 [HSA:3340] [KO:K02576]
 (MRT47) FMN2 [HSA:56776] [KO:K02184]
 (MRT48) SLC6A17 [HSA:388662] [KO:K05048]
 (MRT49) GPT2 [HSA:84706] [KO:K00814]
 (MRT50) EDC3 [HSA:80153] [KO:K12615]
 (MRT51) HNMT [HSA:3176] [KO:K00546]
 (MRT52) LMAN2L [HSA:81562] [KO:K10083]
 (MRT53) PIGG [HSA:54872] [KO:K05310]
 (MRT54) TNIK [HSA:23043] [KO:K08840]
 (MRT55) PUS3 [HSA:83480] [KO:K01855]
 (MRT56) ZC3H14 [HSA:79882] [KO:K23038]
 (MRT57) MBOAT7 [HSA:79143] [KO:K13516]
 (MRT58) ELP2 [HSA:55250] [KO:K11374]
 (MRT59) IMPA1 [HSA:3612] [KO:K01092]
 (MRT60) TAF13 [HSA:6884] [KO:K03127]
 (MRT61) RUSC2 [HSA:9853] [KO:K23291]
 (MRT62) PIGC [HSA:5279] [KO:K03859]
 (MRT63) CAMK2A [HSA:815] [KO:K04515]
 (MRT64) LINGO1 [HSA:84894] [KO:K23533]
 (MRT65) KDM5B [HSA:10765] [KO:K11446]
 (MRT66) C12orf4 [HSA:57102]
 (MRT67) EIF3F [HSA:8665] [KO:K03249]
 (MRT68) TRMT1 [HSA:55621] [KO:K00555]
 (MRT69) ZBTB11 [HSA:27107] [KO:K10498]
 (MRT70) RSRC1 [HSA:51319] [KO:K24594]
 (MRT71) ALKBH8 [HSA:91801] [KO:K10770]
 (MRT72) METTL5 [HSA:29081] [KO:K24418]
 (MRT73) NAA20 [HSA:51126] [KO:K17972]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: D008607
 OMIM: 249500 607417 608443 611091 611092 611093 611090 613192 614020 614202 614249 614340 614499 615286 615493 615516 615541 615599 615637 615802 615817 615942 615979 616116 616193 616269 616281 616460 616739 616887 616917 617028 617051 617125 617188 617270 617323 617432 617773 617816 618095 618103 618109 618221 618295 608302 618383 618402 618504 618665 619717","PMID:21063731
 著者        Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H
 タイトル      Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
 雑誌        Hum Genet 129:141-8 (2011)
 DOI:10.1007/s00439-010-0907-3
 PMID:21937992
 著者        Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
 タイトル      Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
 雑誌        Nature 478:57-63 (2011)
 DOI:10.1038/nature10423
 PMID:20092579 (MRT1)
 著者        Mitsui S, Osako Y, Yokoi F, Dang MT, Yuri K, Li Y, Yamaguchi N
 タイトル      A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction.
 雑誌        Eur J Neurosci 30:2368-78 (2009)
 DOI:10.1111/j.1460-9568.2009.07029.x
 PMID:17380424 (MRT2)
 著者        Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W
 タイトル      Primary function analysis of human mental retardation related gene CRBN.
 雑誌        Mol Biol Rep 35:251-6 (2008)
 DOI:10.1007/s11033-007-9077-3
 PMID:17714190 (MRT3)
 著者        Rogaeva A, Albert PR
 タイトル      The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription.
 雑誌        Eur J Neurosci 26:965-74 (2007)
 DOI:10.1111/j.1460-9568.2007.05727.x
 PMID:22541559 (MRT5)
 著者        Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weissmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW
 タイトル      Mutations in NSUN2 cause autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 90:847-55 (2012)
 DOI:10.1016/j.ajhg.2012.03.021
 PMID:17847003 (MRT6)
 著者        Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
 タイトル      A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
 雑誌        Am J Hum Genet 81:792-8 (2007)
 DOI:10.1086/521275
 PMID:18452889 (MRT7)
 著者        Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW
 タイトル      A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
 雑誌        Am J Hum Genet 82:1158-64 (2008)
 DOI:10.1016/j.ajhg.2008.03.018
 PMID:21907012 (MRT12)
 著者        Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW
 タイトル      ST3GAL3 mutations impair the development of higher cognitive functions.
 雑誌        Am J Hum Genet 89:407-14 (2011)
 DOI:10.1016/j.ajhg.2011.08.008
 PMID:20004765 (MRT13)
 著者        Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
 タイトル      Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
 雑誌        Am J Hum Genet 85:909-15 (2009)
 DOI:10.1016/j.ajhg.2009.11.009
 PMID:21212097 (MRT14)
 著者        Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C
 タイトル      Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
 雑誌        Hum Mol Genet 20:1285-9 (2011)
 DOI:10.1093/hmg/ddq569
 PMID:21763484 (MRT15)
 著者        Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H
 タイトル      Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 89:176-82 (2011)
 DOI:10.1016/j.ajhg.2011.06.006
 PMID:21868677 (MRT18)
 著者        Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L
 タイトル      MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
 雑誌        Science 333:1161-3 (2011)
 DOI:10.1126/science.1206638
 PMID:23620220 (MRT36)
 著者        Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS
 タイトル      Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
 雑誌        J Med Genet 50:425-30 (2013)
 DOI:10.1136/jmedgenet-2012-101378
 PMID:23390136 (MRT37)
 著者        Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L
 タイトル      Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
 雑誌        Hum Mol Genet 22:1960-70 (2013)
 DOI:10.1093/hmg/ddt043
 PMID:23243086 (MRT38)
 著者        Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH
 タイトル      Mutation of HERC2 causes developmental delay with Angelman-like features.
 雑誌        J Med Genet 50:65-73 (2013)
 DOI:10.1136/jmedgenet-2012-101367
 PMID:24239382 (MRT41)
 著者        Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH
 タイトル      Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
 雑誌        Am J Hum Genet 94:87-94 (2014)
 DOI:10.1016/j.ajhg.2013.10.001
 PMID:24784135 (MRT42)
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:10.1371/journal.pgen.1004320
 PMID:21498477 (MRT43)
 著者        Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A
 タイトル      Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
 雑誌        Hum Mol Genet 20:2585-90 (2011)
 DOI:10.1093/hmg/ddr158
 PMID:24626631 (MRT44)
 著者        Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Muller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC
 タイトル      Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
 雑誌        Hum Mol Genet 23:4015-23 (2014)
 DOI:10.1093/hmg/ddu115
 PMID:24623383 (MRT45)
 著者        Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
 タイトル      Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
 雑誌        Hum Genet 133:975-84 (2014)
 DOI:10.1007/s00439-014-1438-0
 PMID:25125150 (MRT46)
 著者        Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K
 タイトル      NDST1 missense mutations in autosomal recessive intellectual disability.
 雑誌        Am J Med Genet A 164A:2753-63 (2014)
 DOI:10.1002/ajmg.a.36723
 PMID:25480035 (MRT47)
 著者        Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG
 タイトル      Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 95:721-8 (2014)
 DOI:10.1016/j.ajhg.2014.10.016
 PMID:25704603 (MRT48)
 著者        Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H
 タイトル      Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
 雑誌        Am J Hum Genet 96:386-96 (2015)
 DOI:10.1016/j.ajhg.2015.01.010
 PMID:27601654 (MRT49)
 著者        Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM
 タイトル      Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
 雑誌        Proc Natl Acad Sci U S A 113:E5598-607 (2016)
 DOI:10.1073/pnas.1609221113
 PMID:25701870 (MRT50)
 著者        Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
 タイトル      Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
 雑誌        Hum Mol Genet 24:3172-80 (2015)
 DOI:10.1093/hmg/ddv069
 PMID:26206890 (MRT51)
 著者        Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB
 タイトル      Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
 雑誌        Hum Mol Genet 24:5697-710 (2015)
 DOI:10.1093/hmg/ddv286
 PMID:26566883 (MRT52)
 著者        Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S
 タイトル      Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
 雑誌        J Med Genet 53:138-44 (2016)
 DOI:10.1136/jmedgenet-2015-103179
 PMID:26996948 (MRT53)
 著者        Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
 タイトル      Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
 雑誌        Am J Hum Genet 98:615-26 (2016)
 DOI:10.1016/j.ajhg.2016.02.007
 PMID:27106596 (MRT54)
 著者        Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS
 タイトル      A null mutation in TNIK defines a novel locus for intellectual disability.
 雑誌        Hum Genet 135:773-8 (2016)
 DOI:10.1007/s00439-016-1671-9
 PMID:27055666 (MRT55)
 著者        Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS
 タイトル      A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
 雑誌        Hum Genet 135:707-13 (2016)
 DOI:10.1007/s00439-016-1665-7
 PMID:21734151 (MRT56)
 著者        Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW
 タイトル      Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
 雑誌        Proc Natl Acad Sci U S A 108:12390-5 (2011)
 DOI:10.1073/pnas.1107103108
 PMID:27616480 (MRT57)
 著者        Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R
 タイトル      Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
 雑誌        Am J Hum Genet 99:912-916 (2016)
 DOI:10.1016/j.ajhg.2016.07.019
 PMID:26416544 (MRT59)
 著者        Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S
 タイトル      A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
 雑誌        Mol Psychiatry 21:1125-9 (2016)
 DOI:10.1038/mp.2015.150
 PMID:28257693 (MRT60)
 著者        Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R
 タイトル      Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
 雑誌        Am J Hum Genet 100:555-561 (2017)
 DOI:10.1016/j.ajhg.2017.01.032
 PMID:27612186 (MRT61)
 著者        Alwadei AH, Benini R, Mahmoud A, Alasmari A, Kamsteeg EJ, Alfadhel M
 タイトル      Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.
 雑誌        Dev Med Child Neurol 58:1317-1322 (2016)
 DOI:10.1111/dmcn.13250
 PMID:31564433 (MRT72)
 著者        Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S
 タイトル      Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
 雑誌        Am J Hum Genet 105:869-878 (2019)
 DOI:10.1016/j.ajhg.2019.09.007
 PMID:34230638 (MRT73)
 著者        Morrison J, Altuwaijri NK, Bronstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T
 タイトル      Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
 雑誌        Genet Med 23:2213-2218 (2021)
 DOI:10.1038/s41436-021-01264-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00768"">H00768</a>","常染色体劣性遺伝性知的発達障害;
 常染色体劣性遺伝性精神遅滞","Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several causative genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.",,"(MRT1) PRSS12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8492"">8492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09624"">K09624</a>]
 (MRT2) CRBN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51185"">51185</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11793"">K11793</a>]
 (MRT3) CC2D1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54862"">54862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18260"">K18260</a>]
 (MRT5) NSUN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54888"">54888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15335"">K15335</a>]
 (MRT6) GRIK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2898"">2898</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05202"">K05202</a>]
 (MRT7) TUSC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7991"">7991</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12669"">K12669</a>]
 (MRT12) ST3GAL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6487"">6487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00781"">K00781</a>]
 (MRT13) TRAPPC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83696"">83696</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20306"">K20306</a>]
 (MRT14) TECR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9524"">9524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10258"">K10258</a>]
 (MRT15) MAN1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11253"">11253</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23741"">K23741</a>]
 (MRT18) MED23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9439"">9439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15166"">K15166</a>]
 (MRT27) LINS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55180"">55180</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22533"">K22533</a>]
 (MRT34) CRADD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8738"">8738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02832"">K02832</a>]
 (MRT36) ADAT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113179"">113179</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15442"">K15442</a>]
 (MRT37) ANK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:288"">288</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10380"">K10380</a>]
 (MRT38) HERC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8924"">8924</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10595"">K10595</a>]
 (MRT39) TTI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80185"">80185</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23115"">K23115</a>]
 (MRT40) TAF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6873"">6873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03128"">K03128</a>]
 (MRT41) KPTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11133"">11133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23295"">K23295</a>]
 (MRT42) PGAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80055"">80055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05294"">K05294</a>]
 (MRT43) WASHC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23325"">23325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18465"">K18465</a>]
 (MRT44) METTL23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124512"">124512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23151"">K23151</a>]
 (MRT45) FBXO31 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79791"">79791</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10308"">K10308</a>]
 (MRT46) NDST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3340"">3340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02576"">K02576</a>]
 (MRT47) FMN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56776"">56776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02184"">K02184</a>]
 (MRT48) SLC6A17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388662"">388662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05048"">K05048</a>]
 (MRT49) GPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84706"">84706</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00814"">K00814</a>]
 (MRT50) EDC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80153"">80153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12615"">K12615</a>]
 (MRT51) HNMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3176"">3176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00546"">K00546</a>]
 (MRT52) LMAN2L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81562"">81562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10083"">K10083</a>]
 (MRT53) PIGG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54872"">54872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05310"">K05310</a>]
 (MRT54) TNIK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23043"">23043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08840"">K08840</a>]
 (MRT55) PUS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83480"">83480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01855"">K01855</a>]
 (MRT56) ZC3H14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79882"">79882</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23038"">K23038</a>]
 (MRT57) MBOAT7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79143"">79143</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13516"">K13516</a>]
 (MRT58) ELP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55250"">55250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11374"">K11374</a>]
 (MRT59) IMPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3612"">3612</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01092"">K01092</a>]
 (MRT60) TAF13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6884"">6884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03127"">K03127</a>]
 (MRT61) RUSC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9853"">9853</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23291"">K23291</a>]
 (MRT62) PIGC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5279"">5279</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03859"">K03859</a>]
 (MRT63) CAMK2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:815"">815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04515"">K04515</a>]
 (MRT64) LINGO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84894"">84894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23533"">K23533</a>]
 (MRT65) KDM5B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10765"">10765</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11446"">K11446</a>]
 (MRT66) C12orf4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57102"">57102</a>]
 (MRT67) EIF3F [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8665"">8665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03249"">K03249</a>]
 (MRT68) TRMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55621"">55621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00555"">K00555</a>]
 (MRT69) ZBTB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27107"">27107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10498"">K10498</a>]
 (MRT70) RSRC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51319"">51319</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24594"">K24594</a>]
 (MRT71) ALKBH8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91801"">91801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10770"">K10770</a>]
 (MRT72) METTL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29081"">29081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24418"">K24418</a>]
 (MRT73) NAA20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51126"">51126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17972"">K17972</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008607"">D008607</a>
 OMIM: <a href=""https://www.omim.org/entry/249500"">249500</a> <a href=""https://www.omim.org/entry/607417"">607417</a> <a href=""https://www.omim.org/entry/608443"">608443</a> <a href=""https://www.omim.org/entry/611091"">611091</a> <a href=""https://www.omim.org/entry/611092"">611092</a> <a href=""https://www.omim.org/entry/611093"">611093</a> <a href=""https://www.omim.org/entry/611090"">611090</a> <a href=""https://www.omim.org/entry/613192"">613192</a> <a href=""https://www.omim.org/entry/614020"">614020</a> <a href=""https://www.omim.org/entry/614202"">614202</a> <a href=""https://www.omim.org/entry/614249"">614249</a> <a href=""https://www.omim.org/entry/614340"">614340</a> <a href=""https://www.omim.org/entry/614499"">614499</a> <a href=""https://www.omim.org/entry/615286"">615286</a> <a href=""https://www.omim.org/entry/615493"">615493</a> <a href=""https://www.omim.org/entry/615516"">615516</a> <a href=""https://www.omim.org/entry/615541"">615541</a> <a href=""https://www.omim.org/entry/615599"">615599</a> <a href=""https://www.omim.org/entry/615637"">615637</a> <a href=""https://www.omim.org/entry/615802"">615802</a> <a href=""https://www.omim.org/entry/615817"">615817</a> <a href=""https://www.omim.org/entry/615942"">615942</a> <a href=""https://www.omim.org/entry/615979"">615979</a> <a href=""https://www.omim.org/entry/616116"">616116</a> <a href=""https://www.omim.org/entry/616193"">616193</a> <a href=""https://www.omim.org/entry/616269"">616269</a> <a href=""https://www.omim.org/entry/616281"">616281</a> <a href=""https://www.omim.org/entry/616460"">616460</a> <a href=""https://www.omim.org/entry/616739"">616739</a> <a href=""https://www.omim.org/entry/616887"">616887</a> <a href=""https://www.omim.org/entry/616917"">616917</a> <a href=""https://www.omim.org/entry/617028"">617028</a> <a href=""https://www.omim.org/entry/617051"">617051</a> <a href=""https://www.omim.org/entry/617125"">617125</a> <a href=""https://www.omim.org/entry/617188"">617188</a> <a href=""https://www.omim.org/entry/617270"">617270</a> <a href=""https://www.omim.org/entry/617323"">617323</a> <a href=""https://www.omim.org/entry/617432"">617432</a> <a href=""https://www.omim.org/entry/617773"">617773</a> <a href=""https://www.omim.org/entry/617816"">617816</a> <a href=""https://www.omim.org/entry/618095"">618095</a> <a href=""https://www.omim.org/entry/618103"">618103</a> <a href=""https://www.omim.org/entry/618109"">618109</a> <a href=""https://www.omim.org/entry/618221"">618221</a> <a href=""https://www.omim.org/entry/618295"">618295</a> <a href=""https://www.omim.org/entry/608302"">608302</a> <a href=""https://www.omim.org/entry/618383"">618383</a> <a href=""https://www.omim.org/entry/618402"">618402</a> <a href=""https://www.omim.org/entry/618504"">618504</a> <a href=""https://www.omim.org/entry/618665"">618665</a> <a href=""https://www.omim.org/entry/619717"">619717</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21063731"">21063731</a>
 著者        Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H
 タイトル      Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
 雑誌        Hum Genet 129:141-8 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0907-3"">10.1007/s00439-010-0907-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21937992"">21937992</a>
 著者        Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
 タイトル      Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
 雑誌        Nature 478:57-63 (2011)
 DOI:<a href=""https://doi.org/10.1038/nature10423"">10.1038/nature10423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20092579"">20092579</a> (MRT1)
 著者        Mitsui S, Osako Y, Yokoi F, Dang MT, Yuri K, Li Y, Yamaguchi N
 タイトル      A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction.
 雑誌        Eur J Neurosci 30:2368-78 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9568.2009.07029.x"">10.1111/j.1460-9568.2009.07029.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17380424"">17380424</a> (MRT2)
 著者        Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W
 タイトル      Primary function analysis of human mental retardation related gene CRBN.
 雑誌        Mol Biol Rep 35:251-6 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11033-007-9077-3"">10.1007/s11033-007-9077-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17714190"">17714190</a> (MRT3)
 著者        Rogaeva A, Albert PR
 タイトル      The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription.
 雑誌        Eur J Neurosci 26:965-74 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9568.2007.05727.x"">10.1111/j.1460-9568.2007.05727.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22541559"">22541559</a> (MRT5)
 著者        Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weissmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW
 タイトル      Mutations in NSUN2 cause autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 90:847-55 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.021"">10.1016/j.ajhg.2012.03.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17847003"">17847003</a> (MRT6)
 著者        Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
 タイトル      A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
 雑誌        Am J Hum Genet 81:792-8 (2007)
 DOI:<a href=""https://doi.org/10.1086/521275"">10.1086/521275</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18452889"">18452889</a> (MRT7)
 著者        Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW
 タイトル      A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
 雑誌        Am J Hum Genet 82:1158-64 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.018"">10.1016/j.ajhg.2008.03.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21907012"">21907012</a> (MRT12)
 著者        Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW
 タイトル      ST3GAL3 mutations impair the development of higher cognitive functions.
 雑誌        Am J Hum Genet 89:407-14 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.08.008"">10.1016/j.ajhg.2011.08.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20004765"">20004765</a> (MRT13)
 著者        Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
 タイトル      Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
 雑誌        Am J Hum Genet 85:909-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.11.009"">10.1016/j.ajhg.2009.11.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21212097"">21212097</a> (MRT14)
 著者        Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C
 タイトル      Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
 雑誌        Hum Mol Genet 20:1285-9 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq569"">10.1093/hmg/ddq569</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21763484"">21763484</a> (MRT15)
 著者        Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H
 タイトル      Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 89:176-82 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.006"">10.1016/j.ajhg.2011.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21868677"">21868677</a> (MRT18)
 著者        Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L
 タイトル      MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
 雑誌        Science 333:1161-3 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1206638"">10.1126/science.1206638</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23620220"">23620220</a> (MRT36)
 著者        Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS
 タイトル      Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
 雑誌        J Med Genet 50:425-30 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101378"">10.1136/jmedgenet-2012-101378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23390136"">23390136</a> (MRT37)
 著者        Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L
 タイトル      Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
 雑誌        Hum Mol Genet 22:1960-70 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt043"">10.1093/hmg/ddt043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23243086"">23243086</a> (MRT38)
 著者        Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH
 タイトル      Mutation of HERC2 causes developmental delay with Angelman-like features.
 雑誌        J Med Genet 50:65-73 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101367"">10.1136/jmedgenet-2012-101367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24239382"">24239382</a> (MRT41)
 著者        Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH
 タイトル      Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
 雑誌        Am J Hum Genet 94:87-94 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.001"">10.1016/j.ajhg.2013.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24784135"">24784135</a> (MRT42)
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004320"">10.1371/journal.pgen.1004320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21498477"">21498477</a> (MRT43)
 著者        Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A
 タイトル      Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
 雑誌        Hum Mol Genet 20:2585-90 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr158"">10.1093/hmg/ddr158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24626631"">24626631</a> (MRT44)
 著者        Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Muller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC
 タイトル      Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
 雑誌        Hum Mol Genet 23:4015-23 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu115"">10.1093/hmg/ddu115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24623383"">24623383</a> (MRT45)
 著者        Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
 タイトル      Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
 雑誌        Hum Genet 133:975-84 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00439-014-1438-0"">10.1007/s00439-014-1438-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25125150"">25125150</a> (MRT46)
 著者        Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K
 タイトル      NDST1 missense mutations in autosomal recessive intellectual disability.
 雑誌        Am J Med Genet A 164A:2753-63 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36723"">10.1002/ajmg.a.36723</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25480035"">25480035</a> (MRT47)
 著者        Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG
 タイトル      Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
 雑誌        Am J Hum Genet 95:721-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.016"">10.1016/j.ajhg.2014.10.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25704603"">25704603</a> (MRT48)
 著者        Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H
 タイトル      Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
 雑誌        Am J Hum Genet 96:386-96 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.010"">10.1016/j.ajhg.2015.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27601654"">27601654</a> (MRT49)
 著者        Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM
 タイトル      Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
 雑誌        Proc Natl Acad Sci U S A 113:E5598-607 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1609221113"">10.1073/pnas.1609221113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25701870"">25701870</a> (MRT50)
 著者        Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
 タイトル      Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
 雑誌        Hum Mol Genet 24:3172-80 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv069"">10.1093/hmg/ddv069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26206890"">26206890</a> (MRT51)
 著者        Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB
 タイトル      Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
 雑誌        Hum Mol Genet 24:5697-710 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv286"">10.1093/hmg/ddv286</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26566883"">26566883</a> (MRT52)
 著者        Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S
 タイトル      Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
 雑誌        J Med Genet 53:138-44 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103179"">10.1136/jmedgenet-2015-103179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26996948"">26996948</a> (MRT53)
 著者        Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
 タイトル      Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
 雑誌        Am J Hum Genet 98:615-26 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.02.007"">10.1016/j.ajhg.2016.02.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27106596"">27106596</a> (MRT54)
 著者        Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS
 タイトル      A null mutation in TNIK defines a novel locus for intellectual disability.
 雑誌        Hum Genet 135:773-8 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1671-9"">10.1007/s00439-016-1671-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27055666"">27055666</a> (MRT55)
 著者        Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS
 タイトル      A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
 雑誌        Hum Genet 135:707-13 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1665-7"">10.1007/s00439-016-1665-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21734151"">21734151</a> (MRT56)
 著者        Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW
 タイトル      Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
 雑誌        Proc Natl Acad Sci U S A 108:12390-5 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1107103108"">10.1073/pnas.1107103108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616480"">27616480</a> (MRT57)
 著者        Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R
 タイトル      Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
 雑誌        Am J Hum Genet 99:912-916 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.019"">10.1016/j.ajhg.2016.07.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26416544"">26416544</a> (MRT59)
 著者        Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S
 タイトル      A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
 雑誌        Mol Psychiatry 21:1125-9 (2016)
 DOI:<a href=""https://doi.org/10.1038/mp.2015.150"">10.1038/mp.2015.150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28257693"">28257693</a> (MRT60)
 著者        Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R
 タイトル      Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
 雑誌        Am J Hum Genet 100:555-561 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.01.032"">10.1016/j.ajhg.2017.01.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27612186"">27612186</a> (MRT61)
 著者        Alwadei AH, Benini R, Mahmoud A, Alasmari A, Kamsteeg EJ, Alfadhel M
 タイトル      Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.
 雑誌        Dev Med Child Neurol 58:1317-1322 (2016)
 DOI:<a href=""https://doi.org/10.1111/dmcn.13250"">10.1111/dmcn.13250</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31564433"">31564433</a> (MRT72)
 著者        Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S
 タイトル      Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
 雑誌        Am J Hum Genet 105:869-878 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.007"">10.1016/j.ajhg.2019.09.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34230638"">34230638</a> (MRT73)
 著者        Morrison J, Altuwaijri NK, Bronstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T
 タイトル      Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
 雑誌        Genet Med 23:2213-2218 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-021-01264-0"">10.1038/s41436-021-01264-0</a>"
H00769,"過剰驚愕症;
 びっくり病
 下位グループ    てんかんを伴う過剰驚愕症 [DS:H02353]",,,"Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits.",神経系疾患,,"(HKPX1) GLRA1 [HSA:2741] [KO:K05193]
 (HKPX2) GLRB [HSA:2743] [KO:K05196]
 (HKPX3) SLC6A5 [HSA:9152] [KO:K05038]
 (HKPX4) ATAD1 [HSA:84896] [KO:K22530]",,,,,,"ICD-11: LD90.Y
 ICD-10: G25.8
 MeSH: D016750
 OMIM: 149400 614619 614618 618011","PMID:18707791
 著者        Harvey RJ, Topf M, Harvey K, Rees MI
 タイトル      The genetics of hyperekplexia: more than startle!
 雑誌        Trends Genet 24:439-47 (2008)
 DOI:10.1016/j.tig.2008.06.005
 PMID:20407582
 著者        Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI
 タイトル      The glycinergic system in human startle disease: a genetic screening approach.
 雑誌        Front Mol Neurosci 3:8 (2010)
 DOI:10.3389/fnmol.2010.00008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00769"">H00769</a>","過剰驚愕症;
 びっくり病
 下位グループ    てんかんを伴う過剰驚愕症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02353"">H02353</a>]","Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits.",,"(HKPX1) GLRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2741"">2741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05193"">K05193</a>]
 (HKPX2) GLRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2743"">2743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05196"">K05196</a>]
 (HKPX3) SLC6A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9152"">9152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05038"">K05038</a>]
 (HKPX4) ATAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84896"">84896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22530"">K22530</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: G25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016750"">D016750</a>
 OMIM: <a href=""https://www.omim.org/entry/149400"">149400</a> <a href=""https://www.omim.org/entry/614619"">614619</a> <a href=""https://www.omim.org/entry/614618"">614618</a> <a href=""https://www.omim.org/entry/618011"">618011</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18707791"">18707791</a>
 著者        Harvey RJ, Topf M, Harvey K, Rees MI
 タイトル      The genetics of hyperekplexia: more than startle!
 雑誌        Trends Genet 24:439-47 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.tig.2008.06.005"">10.1016/j.tig.2008.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20407582"">20407582</a>
 著者        Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI
 タイトル      The glycinergic system in human startle disease: a genetic screening approach.
 雑誌        Front Mol Neurosci 3:8 (2010)
 DOI:<a href=""https://doi.org/10.3389/fnmol.2010.00008"">10.3389/fnmol.2010.00008</a>"
H00770,先天性筋無力症候群,,,Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue.,神経系疾患,,"(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803]
 (CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812]
 (CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816]
 (CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817]
 (CMS5) COLQ [HSA:8292]
 (CMS6) CHAT [HSA:1103] [KO:K00623]
 (CMS7) SYT2 [HSA:127833] [KO:K19902]
 (CMS8) AGRN [HSA:375790] [KO:K06254]
 (CMS9) MUSK [HSA:4593] [KO:K05129]
 (CMS10) DOK7 [HSA:285489] [KO:K24038]
 (CMS11) RAPSN [HSA:5913] [KO:K24924]
 (CMS12) GFPT1 [HSA:2673] [KO:K00820]
 (CMS13) DPAGT1 [HSA:1798] [KO:K01001]
 (CMS14) ALG2 [HSA:85365] [KO:K03843]
 (CMS15) ALG14 [HSA:199857] [KO:K07441]
 (CMS16) SCN4A [HSA:6329] [KO:K04837]
 (CMS17) LRP4 [HSA:4038] [KO:K20051]
 (CMS18) SNAP25 [HSA:6616] [KO:K18211]
 (CMS19) COL13A1 [HSA:1305] [KO:K16617]
 (CMS20) SLC5A7 [HSA:60482] [KO:K14387]
 (CMS21) SLC18A3 [HSA:6572] [KO:K14636]
 (CMS22) PREPL [HSA:9581] [KO:K22582]
 (CMS23) SLC25A1 [HSA:6576] [KO:K15100]
 (CMS24) MYO9A [HSA:4649] [KO:K10360]
 (CMS25) VAMP1 [HSA:6843] [KO:K08510]",,,,,,"ICD-11: 8C61
 ICD-10: G70.2
 MeSH: D020294
 OMIM: 601462 608930 616313 616314 616321 616322 616323 605809 616324 608931 603034 254210 616040 615120 616325 254300 616326 610542 614750 616228 616227 614198 616304 616330 616720 617143 617239 616224 618197 618198 618323","PMID:19593127
 著者        Argov Z
 タイトル      Management of myasthenic conditions: nonimmune issues.
 雑誌        Curr Opin Neurol 22:493-7 (2009)
 DOI:10.1097/WCO.0b013e32832f15fa
 PMID:20547629 (description, gene, drug)
 著者        Spillane J, Beeson DJ, Kullmann DM
 タイトル      Myasthenia and related disorders of the neuromuscular junction.
 雑誌        J Neurol Neurosurg Psychiatry 81:850-7 (2010)
 DOI:10.1136/jnnp.2008.169367
 PMID:21310273
 著者        Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H
 タイトル      Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
 雑誌        Am J Hum Genet 88:162-72 (2011)
 DOI:10.1016/j.ajhg.2011.01.008
 PMID:24610330
 著者        Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG
 タイトル      PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
 雑誌        Neurology 82:1254-60 (2014)
 DOI:10.1212/WNL.0000000000000295
 PMID:26870663
 著者        Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H
 タイトル      Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
 雑誌        J Neuromuscul Dis 1:75-90 (2014)
 DOI:10.3233/JND-140021
 PMID:27259756
 著者        O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H
 タイトル      Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
 雑誌        Brain 139:2143-53 (2016)
 DOI:10.1093/brain/aww130
 PMID:17102983
 著者        Nystuen AM, Schwendinger JK, Sachs AJ, Yang AW, Haider NB
 タイトル      A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant.
 雑誌        Neurogenetics 8:1-10 (2007)
 DOI:10.1007/s10048-006-0068-7
 PMID:28253535
 著者        Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H
 タイトル      Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
 雑誌        Ann Neurol 81:597-603 (2017)
 DOI:10.1002/ana.24905","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00770"">H00770</a>",先天性筋無力症候群,Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue.,,"(CMS1A/1B) CHRNA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1134"">1134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04803"">K04803</a>]
 (CMS2A/2C) CHRNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1140"">1140</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04812"">K04812</a>]
 (CMS3A/3B/3C) CHRND [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1144"">1144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04816"">K04816</a>]
 (CMS4A/4B/4C) CHRNE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1145"">1145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04817"">K04817</a>]
 (CMS5) COLQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8292"">8292</a>]
 (CMS6) CHAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1103"">1103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00623"">K00623</a>]
 (CMS7) SYT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:127833"">127833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19902"">K19902</a>]
 (CMS8) AGRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375790"">375790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06254"">K06254</a>]
 (CMS9) MUSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4593"">4593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05129"">K05129</a>]
 (CMS10) DOK7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285489"">285489</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24038"">K24038</a>]
 (CMS11) RAPSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5913"">5913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24924"">K24924</a>]
 (CMS12) GFPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2673"">2673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00820"">K00820</a>]
 (CMS13) DPAGT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1798"">1798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01001"">K01001</a>]
 (CMS14) ALG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85365"">85365</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03843"">K03843</a>]
 (CMS15) ALG14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199857"">199857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07441"">K07441</a>]
 (CMS16) SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]
 (CMS17) LRP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4038"">4038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20051"">K20051</a>]
 (CMS18) SNAP25 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6616"">6616</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18211"">K18211</a>]
 (CMS19) COL13A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1305"">1305</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16617"">K16617</a>]
 (CMS20) SLC5A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60482"">60482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14387"">K14387</a>]
 (CMS21) SLC18A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6572"">6572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14636"">K14636</a>]
 (CMS22) PREPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9581"">9581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22582"">K22582</a>]
 (CMS23) SLC25A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6576"">6576</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15100"">K15100</a>]
 (CMS24) MYO9A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4649"">4649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10360"">K10360</a>]
 (CMS25) VAMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6843"">6843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08510"">K08510</a>]",,,,,,"ICD-11: 8C61
 ICD-10: G70.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020294"">D020294</a>
 OMIM: <a href=""https://www.omim.org/entry/601462"">601462</a> <a href=""https://www.omim.org/entry/608930"">608930</a> <a href=""https://www.omim.org/entry/616313"">616313</a> <a href=""https://www.omim.org/entry/616314"">616314</a> <a href=""https://www.omim.org/entry/616321"">616321</a> <a href=""https://www.omim.org/entry/616322"">616322</a> <a href=""https://www.omim.org/entry/616323"">616323</a> <a href=""https://www.omim.org/entry/605809"">605809</a> <a href=""https://www.omim.org/entry/616324"">616324</a> <a href=""https://www.omim.org/entry/608931"">608931</a> <a href=""https://www.omim.org/entry/603034"">603034</a> <a href=""https://www.omim.org/entry/254210"">254210</a> <a href=""https://www.omim.org/entry/616040"">616040</a> <a href=""https://www.omim.org/entry/615120"">615120</a> <a href=""https://www.omim.org/entry/616325"">616325</a> <a href=""https://www.omim.org/entry/254300"">254300</a> <a href=""https://www.omim.org/entry/616326"">616326</a> <a href=""https://www.omim.org/entry/610542"">610542</a> <a href=""https://www.omim.org/entry/614750"">614750</a> <a href=""https://www.omim.org/entry/616228"">616228</a> <a href=""https://www.omim.org/entry/616227"">616227</a> <a href=""https://www.omim.org/entry/614198"">614198</a> <a href=""https://www.omim.org/entry/616304"">616304</a> <a href=""https://www.omim.org/entry/616330"">616330</a> <a href=""https://www.omim.org/entry/616720"">616720</a> <a href=""https://www.omim.org/entry/617143"">617143</a> <a href=""https://www.omim.org/entry/617239"">617239</a> <a href=""https://www.omim.org/entry/616224"">616224</a> <a href=""https://www.omim.org/entry/618197"">618197</a> <a href=""https://www.omim.org/entry/618198"">618198</a> <a href=""https://www.omim.org/entry/618323"">618323</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19593127"">19593127</a>
 著者        Argov Z
 タイトル      Management of myasthenic conditions: nonimmune issues.
 雑誌        Curr Opin Neurol 22:493-7 (2009)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32832f15fa"">10.1097/WCO.0b013e32832f15fa</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20547629"">20547629</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Spillane J, Beeson DJ, Kullmann DM
 タイトル      Myasthenia and related disorders of the neuromuscular junction.
 雑誌        J Neurol Neurosurg Psychiatry 81:850-7 (2010)
 DOI:<a href=""https://doi.org/10.1136/jnnp.2008.169367"">10.1136/jnnp.2008.169367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21310273"">21310273</a>
 著者        Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H
 タイトル      Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
 雑誌        Am J Hum Genet 88:162-72 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.01.008"">10.1016/j.ajhg.2011.01.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24610330"">24610330</a>
 著者        Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG
 タイトル      PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
 雑誌        Neurology 82:1254-60 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000295"">10.1212/WNL.0000000000000295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26870663"">26870663</a>
 著者        Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H
 タイトル      Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
 雑誌        J Neuromuscul Dis 1:75-90 (2014)
 DOI:<a href=""https://doi.org/10.3233/JND-140021"">10.3233/JND-140021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259756"">27259756</a>
 著者        O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H
 タイトル      Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
 雑誌        Brain 139:2143-53 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/aww130"">10.1093/brain/aww130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17102983"">17102983</a>
 著者        Nystuen AM, Schwendinger JK, Sachs AJ, Yang AW, Haider NB
 タイトル      A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant.
 雑誌        Neurogenetics 8:1-10 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10048-006-0068-7"">10.1007/s10048-006-0068-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28253535"">28253535</a>
 著者        Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H
 タイトル      Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
 雑誌        Ann Neurol 81:597-603 (2017)
 DOI:<a href=""https://doi.org/10.1002/ana.24905"">10.1002/ana.24905</a>"
H00771,原発性紅痛症,,,"Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait. Symptoms of IEM can start as early as 1 year old (early-onset), or in adults (adult-onset), and both types have been described in families and in sporadic cases. Pharmacotherapy has been largely ineffective, and partial relief of symptoms comes from cooling the affected extremities. Dominantly inherited gain-of-function mutations in SCN9A, the gene encoding Nav1.7, cause IEM.",脈管疾患,,SCN9A [HSA:6335] [KO:K04841],,,,,,"ICD-11: EG00
 ICD-10: I73.8
 MeSH: D004916
 OMIM: 133020","PMID:19005038
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:10.1523/JNEUROSCI.3901-08.2008
 PMID:19185186
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:10.1016/S0065-2660(08)01004-3
 PMID:20146699
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:10.1111/j.1749-6632.2009.05110.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00771"">H00771</a>",原発性紅痛症,"Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait. Symptoms of IEM can start as early as 1 year old (early-onset), or in adults (adult-onset), and both types have been described in families and in sporadic cases. Pharmacotherapy has been largely ineffective, and partial relief of symptoms comes from cooling the affected extremities. Dominantly inherited gain-of-function mutations in SCN9A, the gene encoding Nav1.7, cause IEM.",,"SCN9A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6335"">6335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04841"">K04841</a>]",,,,,,"ICD-11: EG00
 ICD-10: I73.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004916"">D004916</a>
 OMIM: <a href=""https://www.omim.org/entry/133020"">133020</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19005038"">19005038</a>
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.3901-08.2008"">10.1523/JNEUROSCI.3901-08.2008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185186"">19185186</a>
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0065-2660(08)01004-3"">10.1016/S0065-2660(08)01004-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20146699"">20146699</a>
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.05110.x"">10.1111/j.1749-6632.2009.05110.x</a>"
H00772,発作性激痛症,,,"Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. Severe pain in PEPD patients along with flushing is induced by bowel movement or probing of the perianal areas, and is sometimes accompanied by tonic nonepileptic seizures and cardiac deficits. The pain attacks are most severe in the lower part of the body and are often triggered by temperature changes (such as cold winds), eating, and/or emotional upsets (such as crying).",神経系疾患,,SCN9A [HSA:6335] [KO:K04841],,,,,,"ICD-11: 8E43.Y
 MeSH: C563475
 OMIM: 167400","PMID:19005038 (description, gene, drug)
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:10.1523/JNEUROSCI.3901-08.2008
 PMID:19185186 (description, gene, drug)
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:10.1016/S0065-2660(08)01004-3
 PMID:20146699 (description, gene, drug)
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:10.1111/j.1749-6632.2009.05110.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00772"">H00772</a>",発作性激痛症,"Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. Severe pain in PEPD patients along with flushing is induced by bowel movement or probing of the perianal areas, and is sometimes accompanied by tonic nonepileptic seizures and cardiac deficits. The pain attacks are most severe in the lower part of the body and are often triggered by temperature changes (such as cold winds), eating, and/or emotional upsets (such as crying).",,"SCN9A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6335"">6335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04841"">K04841</a>]",,,,,,"ICD-11: 8E43.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563475"">C563475</a>
 OMIM: <a href=""https://www.omim.org/entry/167400"">167400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19005038"">19005038</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.3901-08.2008"">10.1523/JNEUROSCI.3901-08.2008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185186"">19185186</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0065-2660(08)01004-3"">10.1016/S0065-2660(08)01004-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20146699"">20146699</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.05110.x"">10.1111/j.1749-6632.2009.05110.x</a>"
H00773,"常染色体優性遺伝性知的発達障害;
 常染色体優性遺伝性精神遅滞
 下位グループ    Helsmoortel-van der Aa 症候群 [DS:H02365]",,,"Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.",精神及び行動の障害,,"(MRD1) MBD5 [HSA:55777] [KO:K23219]
 (MRD2) DOCK8 [HSA:81704] [KO:K21852]
 (MRD3) CDH15 [HSA:1013] [KO:K06809]
 (MRD4) KIRREL3 [HSA:84623] [KO:K25874]
 (MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
 (MRD6) GRIN2B [HSA:2904] [KO:K05210]
 (MRD7) DYRK1A [HSA:1859] [KO:K08825]
 (MRD8) GRIN1 [HSA:2902] [KO:K05208]
 (MRD9) KIF1A [HSA:547] [KO:K10392]
 (MRD10) CACNG2 [HSA:10369] [KO:K04867]
 (MRD11) EPB41L1 [HSA:2036] [KO:K23961]
 (MRD12) ARID1B [HSA:57492] [KO:K11653]
 (MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
 (MRD14) ARID1A [HSA:8289] [KO:K11653]
 (MRD15) SMARCB1 [HSA:6598] [KO:K11648]
 (MRD16) SMARCA4 [HSA:6597] [KO:K11647]
 (MRD17) PACS1 [HSA:55690] [KO:K23290]
 (MRD18) GATAD2B [HSA:57459] [KO:K23194]
 (MRD19) CTNNB1 [HSA:1499] [KO:K02105]
 (MRD20) MEF2C [HSA:4208] [KO:K04454]
 (MRD21) CTCF [HSA:10664] [KO:K23195]
 (MRD22) ZBTB18 [HSA:10472] [KO:K23196]
 (MRD23) SETD5 [HSA:55209] [KO:K23216]
 (MRD24) DEAF1 [HSA:10522] [KO:K23041]
 (MRD25) AHDC1 [HSA:27245] [KO:K22592]
 (MRD26) AUTS2 [HSA:26053] [KO:K23214]
 (MRD27) SOX11 [HSA:6664] [KO:K09268]
 (MRD29) SETBP1 [HSA:26040] [KO:K23217]
 (MRD30) ZMYND11 [HSA:10771] [KO:K23218]
 (MRD31) PURA [HSA:5813] [KO:K21772]
 (MRD32) KAT6A [HSA:7994] [KO:K11305]
 (MRD33) DPP6 [HSA:1804] [KO:K23013]
 (MRD34) COL4A3BP [HSA:10087] [KO:K08283]
 (MRD35) PPP2R5D [HSA:5528] [KO:K11584]
 (MRD36) PPP2R1A [HSA:5518] [KO:K03456]
 (MRD38) EEF1A2 [HSA:1917] [KO:K03231]
 (MRD39) MYT1L [HSA:23040] [KO:K23193]
 (MRD40) CHAMP1 [HSA:283489] [KO:K22593]
 (MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
 (MRD42) GNB1 [HSA:2782] [KO:K04536]
 (MRD43) HIVEP2 [HSA:3097] [KO:K09239]
 (MRD44) TRIO [HSA:7204] [KO:K08810]
 (MRD45) CIC [HSA:23152] [KO:K20225]
 (MRD46) KCNQ5 [HSA:56479] [KO:K04930]
 (MRD47) STAG1 [HSA:10274] [KO:K06671]
 (MRD48) RAC1 [HSA:5879] [KO:K04392]
 (MRD49) TRIP12 [HSA:9320] [KO:K10590]
 (MRD50) NAA15 [HSA:80155] [KO:K20792]
 (MRD51) KMT5B [HSA:51111] [KO:K11429]
 (MRD52) ASH1L [HSA:55870] [KO:K06101]
 (MRD53) CAMK2A [HSA:815] [KO:K04515]
 (MRD54) CAMK2B [HSA:816] [KO:K04515]
 (MRD55) NUS1 [HSA:116150] [KO:K19177]
 (MRD56) CLTC [HSA:1213] [KO:K04646]
 (MRD57) TLK2 [HSA:11011] [KO:K08864]
 (MRD58) SET [HSA:6418] [KO:K11290]
 (MRD59) CAMK2G [HSA:818] [KO:K04515]
 (MRD60) AP2M1 [HSA:1173] [KO:K11826]
 (MRD61) MED13 [HSA:9969] [KO:K15164]
 (MRD62) DLG4 [HSA:1742] [KO:K11828]
 (MRD64) ZNF292 [HSA:23036]
 (MRD65) KDM4B [HSA:23030] [KO:K06709]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: C566947 C567241 C567240 C567234
 OMIM: 156200 614113 612580 612581 612621 613970 614254 614255 614256 614257 614562 614563 614607 614608 614609 615009 615074 615075 613443 615502 612337 615761 615828 615829 615866 616078 616083 616158 616268 616311 616351 616355 616362 616393 616521 616579 616944 616973 616977 617061 617600 617601 617635 617751 617752 617787 617788 617796 617798 617799 617831 617854 618050 618106 618522 618587 618009 618793 619188 619320","PMID:19904302
 著者        Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH
 タイトル      Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
 雑誌        Eur J Hum Genet 18:436-41 (2010)
 DOI:10.1038/ejhg.2009.199
 PMID:18060736
 著者        Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK
 タイトル      Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
 雑誌        Genomics 91:195-202 (2008)
 DOI:10.1016/j.ygeno.2007.10.011
 PMID:19012874
 著者        Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK
 タイトル      Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
 雑誌        Am J Hum Genet 83:703-13 (2008)
 DOI:10.1016/j.ajhg.2008.10.020
 PMID:19673947
 著者        Huang K
 タイトル      SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation.
 雑誌        Clin Genet 76:149-51 (2009)
 DOI:10.1111/j.1399-0004.2009.01247_3.x
 PMID:20890276
 著者        Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K
 タイトル      Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
 雑誌        Nat Genet 42:1021-6 (2010)
 DOI:10.1038/ng.677
 PMID:21294719
 著者        van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB
 タイトル      Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
 雑誌        Clin Genet 79:296-9 (2011)
 DOI:10.1111/j.1399-0004.2010.01544.x
 PMID:21376300 (MRD8, MRD9, MRD10, MRD11)
 著者        Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafreniere RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL
 タイトル      Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 88:306-16 (2011)
 DOI:10.1016/j.ajhg.2011.02.001
 PMID:22368300
 著者        Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T
 タイトル      Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
 雑誌        J Med Genet 49:179-83 (2012)
 DOI:10.1136/jmedgenet-2011-100542
 PMID:22426308 (MRD12, MRD14, MRD15, MRD16)
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 タイトル      Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:376-8 (2012)
 DOI:10.1038/ng.2219
 PMID:23159249
 著者        Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG
 タイトル      Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
 雑誌        Am J Hum Genet 91:1122-7 (2012)
 DOI:10.1016/j.ajhg.2012.10.013
 PMID:23644463
 著者        Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T
 タイトル      GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
 雑誌        J Med Genet 50:507-14 (2013)
 DOI:10.1136/jmedgenet-2012-101490
 PMID:23033978 (MRD19)
 著者        de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
 タイトル      Diagnostic exome sequencing in persons with severe intellectual disability.
 雑誌        N Engl J Med 367:1921-9 (2012)
 DOI:10.1056/NEJMoa1206524
 PMID:20513142
 著者        Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Ekici AB, Reis A, Rauch A
 タイトル      Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
 雑誌        Hum Mutat 31:722-33 (2010)
 DOI:10.1002/humu.21253
 PMID:23746550
 著者        Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C
 タイトル      De novo mutations in the genome organizer CTCF cause intellectual disability.
 雑誌        Am J Hum Genet 93:124-31 (2013)
 DOI:10.1016/j.ajhg.2013.05.007
 PMID:21800092 (MRD22)
 著者        Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG
 タイトル      High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
 雑誌        Hum Genet 131:145-56 (2012)
 DOI:10.1007/s00439-011-1073-y
 PMID:24680889
 著者        Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, Hurles M, Raymond FL
 タイトル      De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
 雑誌        Am J Hum Genet 94:618-24 (2014)
 DOI:10.1016/j.ajhg.2014.03.006
 PMID:24791903
 著者        Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA
 タイトル      De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
 雑誌        Am J Hum Genet 94:784-9 (2014)
 DOI:10.1016/j.ajhg.2014.04.006
 PMID:25533962
 タイトル      Large-scale discovery of novel genetic causes of developmental disorders.
 雑誌        Nature 519:223-8 (2015)
 DOI:10.1038/nature14135
 PMID:25728777
 著者        Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A
 タイトル      Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
 雑誌        Am J Hum Genet 96:507-13 (2015)
 DOI:10.1016/j.ajhg.2015.01.016
 PMID:23832105
 著者        Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ
 タイトル      Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
 雑誌        Eur J Med Genet 56:484-9 (2013)
 DOI:10.1016/j.ejmg.2013.06.008
 PMID:24697219
 著者        Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N
 タイトル      De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
 雑誌        Clin Genet 87:356-61 (2015)
 DOI:10.1111/cge.12394
 PMID:25232846
 著者        De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Bena F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tumer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B
 タイトル      Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
 雑誌        Genet Med 17:460-6 (2015)
 DOI:10.1038/gim.2014.124
 PMID:27108799
 著者        Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen AB, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB
 タイトル      Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
 雑誌        Am J Hum Genet 98:1001-10 (2016)
 DOI:10.1016/j.ajhg.2016.03.011
 PMID:23020937
 著者        Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
 タイトル      Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
 雑誌        Lancet 380:1674-82 (2012)
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 PMID:28191889
 著者        Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE
 タイトル      Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
 雑誌        Nat Genet 49:515-526 (2017)
 DOI:10.1038/ng.3792
 PMID:29100089
 著者        Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S
 タイトル      De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
 雑誌        Am J Hum Genet 101:768-788 (2017)
 DOI:10.1016/j.ajhg.2017.10.003
 PMID:29100083
 著者        Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL
 タイトル      High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 101:664-685 (2017)
 DOI:10.1016/j.ajhg.2017.09.008
 PMID:29740699
 著者        Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
 タイトル      De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
 雑誌        Hum Genet 137:375-388 (2018)
 DOI:10.1007/s00439-018-1887-y
 PMID:20952458
 著者        Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, Munasinghe J, Scattoni ML, Ihne J, Camp M, Graybeal C, Strathdee D, Begg A, Alvarez VA, Kirsch P, Rietschel M, Cichon S, Walter H, Meyer-Lindenberg A, Grant SG, Holmes A
 タイトル      Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.
 雑誌        Am J Psychiatry 167:1508-17 (2010)
 DOI:10.1176/appi.ajp.2010.10040484
 PMID:31723249
 著者        Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ
 タイトル      De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
 雑誌        Genet Med 22:538-546 (2020)
 DOI:10.1038/s41436-019-0693-9
 PMID:33232677
 著者        Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
 タイトル      Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
 雑誌        Am J Hum Genet 107:1170-1177 (2020)
 DOI:10.1016/j.ajhg.2020.11.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00773"">H00773</a>","常染色体優性遺伝性知的発達障害;
 常染色体優性遺伝性精神遅滞
 下位グループ    Helsmoortel-van der Aa 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02365"">H02365</a>]","Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.",,"(MRD1) MBD5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55777"">55777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23219"">K23219</a>]
 (MRD2) DOCK8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81704"">81704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21852"">K21852</a>]
 (MRD3) CDH15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1013"">1013</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06809"">K06809</a>]
 (MRD4) KIRREL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84623"">84623</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25874"">K25874</a>]
 (MRD5) SYNGAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8831"">8831</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17631"">K17631</a>]
 (MRD6) GRIN2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2904"">2904</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05210"">K05210</a>]
 (MRD7) DYRK1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1859"">1859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08825"">K08825</a>]
 (MRD8) GRIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2902"">2902</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05208"">K05208</a>]
 (MRD9) KIF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:547"">547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (MRD10) CACNG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10369"">10369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04867"">K04867</a>]
 (MRD11) EPB41L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2036"">2036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23961"">K23961</a>]
 (MRD12) ARID1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57492"">57492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11653"">K11653</a>]
 (MRD13) DYNC1H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1778"">1778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10413"">K10413</a>]
 (MRD14) ARID1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8289"">8289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11653"">K11653</a>]
 (MRD15) SMARCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6598"">6598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11648"">K11648</a>]
 (MRD16) SMARCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6597"">6597</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11647"">K11647</a>]
 (MRD17) PACS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55690"">55690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23290"">K23290</a>]
 (MRD18) GATAD2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57459"">57459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23194"">K23194</a>]
 (MRD19) CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 (MRD20) MEF2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4208"">4208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04454"">K04454</a>]
 (MRD21) CTCF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10664"">10664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23195"">K23195</a>]
 (MRD22) ZBTB18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10472"">10472</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23196"">K23196</a>]
 (MRD23) SETD5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55209"">55209</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23216"">K23216</a>]
 (MRD24) DEAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10522"">10522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23041"">K23041</a>]
 (MRD25) AHDC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27245"">27245</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22592"">K22592</a>]
 (MRD26) AUTS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26053"">26053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23214"">K23214</a>]
 (MRD27) SOX11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6664"">6664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09268"">K09268</a>]
 (MRD29) SETBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26040"">26040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23217"">K23217</a>]
 (MRD30) ZMYND11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10771"">10771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23218"">K23218</a>]
 (MRD31) PURA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5813"">5813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21772"">K21772</a>]
 (MRD32) KAT6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7994"">7994</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11305"">K11305</a>]
 (MRD33) DPP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1804"">1804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23013"">K23013</a>]
 (MRD34) COL4A3BP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10087"">10087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08283"">K08283</a>]
 (MRD35) PPP2R5D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5528"">5528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11584"">K11584</a>]
 (MRD36) PPP2R1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5518"">5518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03456"">K03456</a>]
 (MRD38) EEF1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1917"">1917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03231"">K03231</a>]
 (MRD39) MYT1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23040"">23040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23193"">K23193</a>]
 (MRD40) CHAMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283489"">283489</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22593"">K22593</a>]
 (MRD41) TBL1XR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79718"">79718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04508"">K04508</a>]
 (MRD42) GNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2782"">2782</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04536"">K04536</a>]
 (MRD43) HIVEP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3097"">3097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09239"">K09239</a>]
 (MRD44) TRIO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7204"">7204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08810"">K08810</a>]
 (MRD45) CIC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23152"">23152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20225"">K20225</a>]
 (MRD46) KCNQ5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56479"">56479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04930"">K04930</a>]
 (MRD47) STAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10274"">10274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06671"">K06671</a>]
 (MRD48) RAC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5879"">5879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04392"">K04392</a>]
 (MRD49) TRIP12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9320"">9320</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10590"">K10590</a>]
 (MRD50) NAA15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80155"">80155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20792"">K20792</a>]
 (MRD51) KMT5B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51111"">51111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11429"">K11429</a>]
 (MRD52) ASH1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55870"">55870</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06101"">K06101</a>]
 (MRD53) CAMK2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:815"">815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04515"">K04515</a>]
 (MRD54) CAMK2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:816"">816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04515"">K04515</a>]
 (MRD55) NUS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116150"">116150</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19177"">K19177</a>]
 (MRD56) CLTC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1213"">1213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04646"">K04646</a>]
 (MRD57) TLK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11011"">11011</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08864"">K08864</a>]
 (MRD58) SET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6418"">6418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11290"">K11290</a>]
 (MRD59) CAMK2G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:818"">818</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04515"">K04515</a>]
 (MRD60) AP2M1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1173"">1173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11826"">K11826</a>]
 (MRD61) MED13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9969"">9969</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15164"">K15164</a>]
 (MRD62) DLG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1742"">1742</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11828"">K11828</a>]
 (MRD64) ZNF292 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23036"">23036</a>]
 (MRD65) KDM4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23030"">23030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06709"">K06709</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566947"">C566947</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567241"">C567241</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567240"">C567240</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567234"">C567234</a>
 OMIM: <a href=""https://www.omim.org/entry/156200"">156200</a> <a href=""https://www.omim.org/entry/614113"">614113</a> <a href=""https://www.omim.org/entry/612580"">612580</a> <a href=""https://www.omim.org/entry/612581"">612581</a> <a href=""https://www.omim.org/entry/612621"">612621</a> <a href=""https://www.omim.org/entry/613970"">613970</a> <a href=""https://www.omim.org/entry/614254"">614254</a> <a href=""https://www.omim.org/entry/614255"">614255</a> <a href=""https://www.omim.org/entry/614256"">614256</a> <a href=""https://www.omim.org/entry/614257"">614257</a> <a href=""https://www.omim.org/entry/614562"">614562</a> <a href=""https://www.omim.org/entry/614563"">614563</a> <a href=""https://www.omim.org/entry/614607"">614607</a> <a href=""https://www.omim.org/entry/614608"">614608</a> <a href=""https://www.omim.org/entry/614609"">614609</a> <a href=""https://www.omim.org/entry/615009"">615009</a> <a href=""https://www.omim.org/entry/615074"">615074</a> <a href=""https://www.omim.org/entry/615075"">615075</a> <a href=""https://www.omim.org/entry/613443"">613443</a> <a href=""https://www.omim.org/entry/615502"">615502</a> <a href=""https://www.omim.org/entry/612337"">612337</a> <a href=""https://www.omim.org/entry/615761"">615761</a> <a href=""https://www.omim.org/entry/615828"">615828</a> <a href=""https://www.omim.org/entry/615829"">615829</a> <a href=""https://www.omim.org/entry/615866"">615866</a> <a href=""https://www.omim.org/entry/616078"">616078</a> <a href=""https://www.omim.org/entry/616083"">616083</a> <a href=""https://www.omim.org/entry/616158"">616158</a> <a href=""https://www.omim.org/entry/616268"">616268</a> <a href=""https://www.omim.org/entry/616311"">616311</a> <a href=""https://www.omim.org/entry/616351"">616351</a> <a href=""https://www.omim.org/entry/616355"">616355</a> <a href=""https://www.omim.org/entry/616362"">616362</a> <a href=""https://www.omim.org/entry/616393"">616393</a> <a href=""https://www.omim.org/entry/616521"">616521</a> <a href=""https://www.omim.org/entry/616579"">616579</a> <a href=""https://www.omim.org/entry/616944"">616944</a> <a href=""https://www.omim.org/entry/616973"">616973</a> <a href=""https://www.omim.org/entry/616977"">616977</a> <a href=""https://www.omim.org/entry/617061"">617061</a> <a href=""https://www.omim.org/entry/617600"">617600</a> <a href=""https://www.omim.org/entry/617601"">617601</a> <a href=""https://www.omim.org/entry/617635"">617635</a> <a href=""https://www.omim.org/entry/617751"">617751</a> <a href=""https://www.omim.org/entry/617752"">617752</a> <a href=""https://www.omim.org/entry/617787"">617787</a> <a href=""https://www.omim.org/entry/617788"">617788</a> <a href=""https://www.omim.org/entry/617796"">617796</a> <a href=""https://www.omim.org/entry/617798"">617798</a> <a href=""https://www.omim.org/entry/617799"">617799</a> <a href=""https://www.omim.org/entry/617831"">617831</a> <a href=""https://www.omim.org/entry/617854"">617854</a> <a href=""https://www.omim.org/entry/618050"">618050</a> <a href=""https://www.omim.org/entry/618106"">618106</a> <a href=""https://www.omim.org/entry/618522"">618522</a> <a href=""https://www.omim.org/entry/618587"">618587</a> <a href=""https://www.omim.org/entry/618009"">618009</a> <a href=""https://www.omim.org/entry/618793"">618793</a> <a href=""https://www.omim.org/entry/619188"">619188</a> <a href=""https://www.omim.org/entry/619320"">619320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19904302"">19904302</a>
 著者        Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH
 タイトル      Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
 雑誌        Eur J Hum Genet 18:436-41 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.199"">10.1038/ejhg.2009.199</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18060736"">18060736</a>
 著者        Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK
 タイトル      Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
 雑誌        Genomics 91:195-202 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ygeno.2007.10.011"">10.1016/j.ygeno.2007.10.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19012874"">19012874</a>
 著者        Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK
 タイトル      Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
 雑誌        Am J Hum Genet 83:703-13 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.020"">10.1016/j.ajhg.2008.10.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19673947"">19673947</a>
 著者        Huang K
 タイトル      SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation.
 雑誌        Clin Genet 76:149-51 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01247_3.x"">10.1111/j.1399-0004.2009.01247_3.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20890276"">20890276</a>
 著者        Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K
 タイトル      Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
 雑誌        Nat Genet 42:1021-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.677"">10.1038/ng.677</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21294719"">21294719</a>
 著者        van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB
 タイトル      Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
 雑誌        Clin Genet 79:296-9 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01544.x"">10.1111/j.1399-0004.2010.01544.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21376300"">21376300</a> (MRD8, <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD9,"">MRD9,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD10,"">MRD10,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD11)"">MRD11)</a>
 著者        Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafreniere RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL
 タイトル      Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 88:306-16 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.001"">10.1016/j.ajhg.2011.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22368300"">22368300</a>
 著者        Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T
 タイトル      Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
 雑誌        J Med Genet 49:179-83 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100542"">10.1136/jmedgenet-2011-100542</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22426308"">22426308</a> (MRD12, <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD14,"">MRD14,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD15,"">MRD15,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MRD16)"">MRD16)</a>
 著者        Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
 タイトル      Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:376-8 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2219"">10.1038/ng.2219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23159249"">23159249</a>
 著者        Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG
 タイトル      Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
 雑誌        Am J Hum Genet 91:1122-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.013"">10.1016/j.ajhg.2012.10.013</a>
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 著者        Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T
 タイトル      GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
 雑誌        J Med Genet 50:507-14 (2013)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23033978"">23033978</a> (MRD19)
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 タイトル      Diagnostic exome sequencing in persons with severe intellectual disability.
 雑誌        N Engl J Med 367:1921-9 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1206524"">10.1056/NEJMoa1206524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20513142"">20513142</a>
 著者        Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Ekici AB, Reis A, Rauch A
 タイトル      Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
 雑誌        Hum Mutat 31:722-33 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21253"">10.1002/humu.21253</a>
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 著者        Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C
 タイトル      De novo mutations in the genome organizer CTCF cause intellectual disability.
 雑誌        Am J Hum Genet 93:124-31 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.007"">10.1016/j.ajhg.2013.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21800092"">21800092</a> (MRD22)
 著者        Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG
 タイトル      High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
 雑誌        Hum Genet 131:145-56 (2012)
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 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24680889"">24680889</a>
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 タイトル      De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
 雑誌        Am J Hum Genet 94:618-24 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.03.006"">10.1016/j.ajhg.2014.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24791903"">24791903</a>
 著者        Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA
 タイトル      De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
 雑誌        Am J Hum Genet 94:784-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.006"">10.1016/j.ajhg.2014.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25533962"">25533962</a>
 タイトル      Large-scale discovery of novel genetic causes of developmental disorders.
 雑誌        Nature 519:223-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/nature14135"">10.1038/nature14135</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25728777"">25728777</a>
 著者        Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A
 タイトル      Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
 雑誌        Am J Hum Genet 96:507-13 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.016"">10.1016/j.ajhg.2015.01.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23832105"">23832105</a>
 著者        Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ
 タイトル      Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
 雑誌        Eur J Med Genet 56:484-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2013.06.008"">10.1016/j.ejmg.2013.06.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24697219"">24697219</a>
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 タイトル      De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
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 タイトル      Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
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 タイトル      Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
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 タイトル      Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
 雑誌        Lancet 380:1674-82 (2012)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(12)61480-9"">10.1016/S0140-6736(12)61480-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28191889"">28191889</a>
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 タイトル      Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
 雑誌        Nat Genet 49:515-526 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3792"">10.1038/ng.3792</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100089"">29100089</a>
 著者        Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S
 タイトル      De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
 雑誌        Am J Hum Genet 101:768-788 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.10.003"">10.1016/j.ajhg.2017.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100083"">29100083</a>
 著者        Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL
 タイトル      High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 101:664-685 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.008"">10.1016/j.ajhg.2017.09.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29740699"">29740699</a>
 著者        Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
 タイトル      De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
 雑誌        Hum Genet 137:375-388 (2018)
 DOI:<a href=""https://doi.org/10.1007/s00439-018-1887-y"">10.1007/s00439-018-1887-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20952458"">20952458</a>
 著者        Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, Munasinghe J, Scattoni ML, Ihne J, Camp M, Graybeal C, Strathdee D, Begg A, Alvarez VA, Kirsch P, Rietschel M, Cichon S, Walter H, Meyer-Lindenberg A, Grant SG, Holmes A
 タイトル      Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.
 雑誌        Am J Psychiatry 167:1508-17 (2010)
 DOI:<a href=""https://doi.org/10.1176/appi.ajp.2010.10040484"">10.1176/appi.ajp.2010.10040484</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31723249"">31723249</a>
 著者        Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ
 タイトル      De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
 雑誌        Genet Med 22:538-546 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0693-9"">10.1038/s41436-019-0693-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33232677"">33232677</a>
 著者        Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
 タイトル      Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
 雑誌        Am J Hum Genet 107:1170-1177 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.11.001"">10.1016/j.ajhg.2020.11.001</a>"
H00774,"先天性無痛覚
 下位グループ    Marsili 症候群",,,"Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures, lip- and tongue-biting, and they do not experience visceral pain. Additionally, patients with Nav1.7-related CIP do not show apparent sympathetic dysfunction and have a normal axon reflex response to histamine. Homozygous and compound null mutations in SCN9A are predicted to truncate the channel protein, resulting in loss-of-function mutations in Nav1.7 and the complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene.",神経系疾患,,"(CIP) SCN9A [HSA:6335] [KO:K04841]
 (MARSIS) ZFHX2 [HSA:85446] [KO:K09379]",,,,,,"ICD-11: 8C21.3
 ICD-10: G60.8
 MeSH: D000699
 OMIM: 243000 147430","PMID:19005038
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:10.1523/JNEUROSCI.3901-08.2008
 PMID:19185186
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:10.1016/S0065-2660(08)01004-3
 PMID:20146699
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:10.1111/j.1749-6632.2009.05110.x
 PMID:29253101
 著者        Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ
 タイトル      A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
 雑誌        Brain 141:365-376 (2018)
 DOI:10.1093/brain/awx326","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00774"">H00774</a>","先天性無痛覚
 下位グループ    Marsili 症候群","Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures, lip- and tongue-biting, and they do not experience visceral pain. Additionally, patients with Nav1.7-related CIP do not show apparent sympathetic dysfunction and have a normal axon reflex response to histamine. Homozygous and compound null mutations in SCN9A are predicted to truncate the channel protein, resulting in loss-of-function mutations in Nav1.7 and the complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene.",,"(CIP) SCN9A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6335"">6335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04841"">K04841</a>]
 (MARSIS) ZFHX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85446"">85446</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09379"">K09379</a>]",,,,,,"ICD-11: 8C21.3
 ICD-10: G60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000699"">D000699</a>
 OMIM: <a href=""https://www.omim.org/entry/243000"">243000</a> <a href=""https://www.omim.org/entry/147430"">147430</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19005038"">19005038</a>
 著者        Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
 タイトル      Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
 雑誌        J Neurosci 28:11768-77 (2008)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.3901-08.2008"">10.1523/JNEUROSCI.3901-08.2008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185186"">19185186</a>
 著者        Dib-Hajj SD, Yang Y, Waxman SG
 タイトル      Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.
 雑誌        Adv Genet 63:85-110 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0065-2660(08)01004-3"">10.1016/S0065-2660(08)01004-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20146699"">20146699</a>
 著者        Fischer TZ, Waxman SG
 タイトル      Familial pain syndromes from mutations of the NaV1.7 sodium channel.
 雑誌        Ann N Y Acad Sci 1184:196-207 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.05110.x"">10.1111/j.1749-6632.2009.05110.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29253101"">29253101</a>
 著者        Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ
 タイトル      A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
 雑誌        Brain 141:365-376 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awx326"">10.1093/brain/awx326</a>"
H00775,"片麻痺性偏頭痛
 下位グループ    家族性片麻痺性偏頭痛
 孤発性片麻痺性偏頭痛",,,"Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree relative is also affected, otherwise the diagnostic criteria are similar. The majority of FHM families have a mutation in one of the ion channels CACNA1A, ATP1A2 and SCN1A. SHM is sometimes caused by a de novo mutation in one of the genes. However, at least a quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this disorder, suggesting that other genes are still to be identified.",神経系疾患,,"(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344]
 (FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539]
 (FHM3) SCN1A [HSA:6323] [KO:K04833]",,,,,,"ICD-11: 8A80.10
 ICD-10: G43.1
 MeSH: D020325
 OMIM: 141500 602481 609634","PMID:21458376 (description, gene, drug)
 著者        Russell MB, Ducros A
 タイトル      Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management.
 雑誌        Lancet Neurol 10:457-70 (2011)
 DOI:10.1016/S1474-4422(11)70048-5
 PMID:20187861
 著者        Russell MB
 タイトル      Management of sporadic and familial hemiplegic migraine.
 雑誌        Expert Rev Neurother 10:381-7 (2010)
 DOI:10.1586/ern.09.127","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00775"">H00775</a>","片麻痺性偏頭痛
 下位グループ    家族性片麻痺性偏頭痛
 孤発性片麻痺性偏頭痛","Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree relative is also affected, otherwise the diagnostic criteria are similar. The majority of FHM families have a mutation in one of the ion channels CACNA1A, ATP1A2 and SCN1A. SHM is sometimes caused by a de novo mutation in one of the genes. However, at least a quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this disorder, suggesting that other genes are still to be identified.",,"(FHM1, SHM1) CACNA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:773"">773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04344"">K04344</a>]
 (FHM2, SHM2) ATP1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:477"">477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 (FHM3) SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]",,,,,,"ICD-11: 8A80.10
 ICD-10: G43.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020325"">D020325</a>
 OMIM: <a href=""https://www.omim.org/entry/141500"">141500</a> <a href=""https://www.omim.org/entry/602481"">602481</a> <a href=""https://www.omim.org/entry/609634"">609634</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21458376"">21458376</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Russell MB, Ducros A
 タイトル      Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management.
 雑誌        Lancet Neurol 10:457-70 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(11)70048-5"">10.1016/S1474-4422(11)70048-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20187861"">20187861</a>
 著者        Russell MB
 タイトル      Management of sporadic and familial hemiplegic migraine.
 雑誌        Expert Rev Neurother 10:381-7 (2010)
 DOI:<a href=""https://doi.org/10.1586/ern.09.127"">10.1586/ern.09.127</a>"
H00776,先天性眼振,,,"Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occur independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143.",神経系疾患,,"(NYS1) FRMD7 [HSA:90167] [KO:K23971]
 (NYS6) GPR143 [HSA:4935] [KO:K08470]",,,,,,"ICD-11: 9C84.1
 ICD-10: H55
 MeSH: C580539
 OMIM: 310700 300814","PMID:17397053
 著者        Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL
 タイトル      Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
 雑誌        Hum Mutat 28:525 (2007)
 DOI:10.1002/humu.9492
 PMID:22065086
 著者        Xiao X, Li S, Guo X, Zhang Q
 タイトル      A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.
 雑誌        Hum Genet 131:697-702 (2012)
 DOI:10.1007/s00439-011-1113-7
 PMID:21423867
 著者        Hu J, Liang D, Xue J, Liu J, Wu L
 タイトル      A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
 雑誌        Mol Vis 17:715-22 (2011)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00776"">H00776</a>",先天性眼振,"Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occur independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143.",,"(NYS1) FRMD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90167"">90167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23971"">K23971</a>]
 (NYS6) GPR143 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4935"">4935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08470"">K08470</a>]",,,,,,"ICD-11: 9C84.1
 ICD-10: H55
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580539"">C580539</a>
 OMIM: <a href=""https://www.omim.org/entry/310700"">310700</a> <a href=""https://www.omim.org/entry/300814"">300814</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17397053"">17397053</a>
 著者        Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL
 タイトル      Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
 雑誌        Hum Mutat 28:525 (2007)
 DOI:<a href=""https://doi.org/10.1002/humu.9492"">10.1002/humu.9492</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22065086"">22065086</a>
 著者        Xiao X, Li S, Guo X, Zhang Q
 タイトル      A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.
 雑誌        Hum Genet 131:697-702 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00439-011-1113-7"">10.1007/s00439-011-1113-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21423867"">21423867</a>
 著者        Hu J, Liang D, Xue J, Liu J, Wu L
 タイトル      A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
 雑誌        Mol Vis 17:715-22 (2011)"
H00777,"短肢・手型脊椎骨端骨幹端異形成;
 短肢・石灰化異常型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:H02187]",,,"Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic craniofacial appearance. Their long bones are short due to premature epiphyses and irregular metaphyses.",先天奇形,,DDR2 [HSA:4921] [KO:K05125],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C564794
 OMIM: 271665","PMID:19110212
 著者        Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A
 タイトル      Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
 雑誌        Am J Hum Genet 84:80-4 (2009)
 DOI:10.1016/j.ajhg.2008.12.004
 PMID:19050402
 著者        Smithson SF, Grier D, Hall CM
 タイトル      Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
 雑誌        Clin Dysmorphol 18:31-5 (2009)
 DOI:10.1097/MCD.0b013e3283189762
 PMID:19002453
 著者        Tuysuz B, Gazioglu N, Ungur S, Aji DY, Turkmen S
 タイトル      The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.
 雑誌        Pediatr Radiol 39:84-9 (2009)
 DOI:10.1007/s00247-008-1036-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00777"">H00777</a>","短肢・手型脊椎骨端骨幹端異形成;
 短肢・石灰化異常型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02187"">H02187</a>]","Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic craniofacial appearance. Their long bones are short due to premature epiphyses and irregular metaphyses.",,"DDR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4921"">4921</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05125"">K05125</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564794"">C564794</a>
 OMIM: <a href=""https://www.omim.org/entry/271665"">271665</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19110212"">19110212</a>
 著者        Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A
 タイトル      Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
 雑誌        Am J Hum Genet 84:80-4 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.004"">10.1016/j.ajhg.2008.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19050402"">19050402</a>
 著者        Smithson SF, Grier D, Hall CM
 タイトル      Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
 雑誌        Clin Dysmorphol 18:31-5 (2009)
 DOI:<a href=""https://doi.org/10.1097/MCD.0b013e3283189762"">10.1097/MCD.0b013e3283189762</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19002453"">19002453</a>
 著者        Tuysuz B, Gazioglu N, Ungur S, Aji DY, Turkmen S
 タイトル      The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.
 雑誌        Pediatr Radiol 39:84-9 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00247-008-1036-1"">10.1007/s00247-008-1036-1</a>"
H00778,Tarsal-carpal coalition 症候群,,,"Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. The fusion of the proximal interphalangeal joints starts at the fifth digit and proceeds to other digits. Humeroradial fusion can also be seen. It is inherited in an autosomal dominant pattern.",先天奇形,,NOG [HSA:9241] [KO:K04658],,,,,,"ICD-11: LD26.3
 ICD-10: Q74.8
 MeSH: C536943
 OMIM: 186570","PMID:11545688
 著者        Dixon ME, Armstrong P, Stevens DB, Bamshad M
 タイトル      Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
 雑誌        Genet Med 3:349-53 (2001)
 DOI:10.1097/00125817-200109000-00004
 PMID:21538686
 著者        Potti TA, Petty EM, Lesperance MM
 タイトル      A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
 雑誌        Hum Mutat 32:877-86 (2011)
 DOI:10.1002/humu.21515","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00778"">H00778</a>",Tarsal-carpal coalition 症候群,"Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. The fusion of the proximal interphalangeal joints starts at the fifth digit and proceeds to other digits. Humeroradial fusion can also be seen. It is inherited in an autosomal dominant pattern.",,"NOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9241"">9241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04658"">K04658</a>]",,,,,,"ICD-11: LD26.3
 ICD-10: Q74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536943"">C536943</a>
 OMIM: <a href=""https://www.omim.org/entry/186570"">186570</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11545688"">11545688</a>
 著者        Dixon ME, Armstrong P, Stevens DB, Bamshad M
 タイトル      Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
 雑誌        Genet Med 3:349-53 (2001)
 DOI:<a href=""https://doi.org/10.1097/00125817-200109000-00004"">10.1097/00125817-200109000-00004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21538686"">21538686</a>
 著者        Potti TA, Petty EM, Lesperance MM
 タイトル      A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
 雑誌        Hum Mutat 32:877-86 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21515"">10.1002/humu.21515</a>"
H00779,アッシャー症候群,,,"Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported.",神経系疾患,,"(USH1B) MYO7A [HSA:4647] [KO:K10359]
 (USH1C) USH1C [HSA:10083] [KO:K21877]
 (USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
 (USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
 (USH1G) USH1G [HSA:124590] [KO:K21878]
 (USH1J) CIB2 [HSA:10518] [KO:K23837]
 (USH1M) ESPN [HSA:83715] [KO:K24047]
 (USH2A) USH2A [HSA:7399] [KO:K19636]
 (USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
 (USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
 (USH2D) WHRN [HSA:25861] [KO:K21879]
 (USH3A) CLRN1 [HSA:7401] [KO:K23841]
 (USH3B) HARS [HSA:3035] [KO:K01892]
 (USH4) ARSG [HSA:22901] [KO:K12381]",,,,,,"ICD-11: LD2H.4
 ICD-10: H35.5
 MeSH: D052245
 OMIM: 276900 276904 601067 602083 606943 614869 276901 605472 611383 276902 614504 618632 618144","PMID:20379205
 著者        Yan D, Liu XZ
 タイトル      Genetics and pathological mechanisms of Usher syndrome.
 雑誌        J Hum Genet 55:327-35 (2010)
 DOI:10.1038/jhg.2010.29
 PMID:16374329
 著者        Friedman TB, Schultz JM, Ahmed ZM
 タイトル      Usher syndrome type 1: genotype-phenotype relationships.
 雑誌        Retina 25:S40-S42 (2005)
 DOI:10.1097/00006982-200512001-00016
 PMID:22009552
 著者        Vache C, Besnard T, le Berre P, Garcia-Garcia G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF
 タイトル      Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
 雑誌        Hum Mutat 33:104-8 (2012)
 DOI:10.1002/humu.21634
 PMID:19423712
 著者        Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y
 タイトル      Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
 雑誌        J Biol Chem 284:18980-93 (2009)
 DOI:10.1074/jbc.M109.003160
 PMID:23023331
 著者        Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
 タイトル      Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
 雑誌        Nat Genet 44:1265-71 (2012)
 DOI:10.1038/ng.2426
 PMID:22279524 (USH3B)
 著者        Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA
 タイトル      Genetic mapping and exome sequencing identify variants associated with five novel diseases.
 雑誌        PLoS One 7:e28936 (2012)
 DOI:10.1371/journal.pone.0028936
 PMID:29572253
 著者        Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S
 タイトル      Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
 雑誌        J Med Genet 55:479-488 (2018)
 DOI:10.1136/jmedgenet-2017-105221
 PMID:32455177
 著者        Abad-Morales V, Navarro R, Bures-Jelstrup A, Pomares E
 タイトル      Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.
 雑誌        Am J Ophthalmol Case Rep 19:100736 (2020)
 DOI:10.1016/j.ajoc.2020.100736","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00779"">H00779</a>",アッシャー症候群,"Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported.",,"(USH1B) MYO7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4647"">4647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10359"">K10359</a>]
 (USH1C) USH1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10083"">10083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21877"">K21877</a>]
 (USH1D/1DF) CDH23, USH1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64072"">64072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06813"">K06813</a>]
 (USH1F/1DF) PCDH15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65217"">65217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16500"">K16500</a>]
 (USH1G) USH1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124590"">124590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21878"">K21878</a>]
 (USH1J) CIB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10518"">10518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23837"">K23837</a>]
 (USH1M) ESPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83715"">83715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24047"">K24047</a>]
 (USH2A) USH2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7399"">7399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19636"">K19636</a>]
 (USH2A/2C) PDZD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79955"">79955</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21882"">K21882</a>]
 (USH2B/2C) GPR98 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84059"">84059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18263"">K18263</a>]
 (USH2D) WHRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25861"">25861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21879"">K21879</a>]
 (USH3A) CLRN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7401"">7401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23841"">K23841</a>]
 (USH3B) HARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3035"">3035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01892"">K01892</a>]
 (USH4) ARSG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22901"">22901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12381"">K12381</a>]",,,,,,"ICD-11: LD2H.4
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052245"">D052245</a>
 OMIM: <a href=""https://www.omim.org/entry/276900"">276900</a> <a href=""https://www.omim.org/entry/276904"">276904</a> <a href=""https://www.omim.org/entry/601067"">601067</a> <a href=""https://www.omim.org/entry/602083"">602083</a> <a href=""https://www.omim.org/entry/606943"">606943</a> <a href=""https://www.omim.org/entry/614869"">614869</a> <a href=""https://www.omim.org/entry/276901"">276901</a> <a href=""https://www.omim.org/entry/605472"">605472</a> <a href=""https://www.omim.org/entry/611383"">611383</a> <a href=""https://www.omim.org/entry/276902"">276902</a> <a href=""https://www.omim.org/entry/614504"">614504</a> <a href=""https://www.omim.org/entry/618632"">618632</a> <a href=""https://www.omim.org/entry/618144"">618144</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20379205"">20379205</a>
 著者        Yan D, Liu XZ
 タイトル      Genetics and pathological mechanisms of Usher syndrome.
 雑誌        J Hum Genet 55:327-35 (2010)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.29"">10.1038/jhg.2010.29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16374329"">16374329</a>
 著者        Friedman TB, Schultz JM, Ahmed ZM
 タイトル      Usher syndrome type 1: genotype-phenotype relationships.
 雑誌        Retina 25:S40-S42 (2005)
 DOI:<a href=""https://doi.org/10.1097/00006982-200512001-00016"">10.1097/00006982-200512001-00016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22009552"">22009552</a>
 著者        Vache C, Besnard T, le Berre P, Garcia-Garcia G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF
 タイトル      Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
 雑誌        Hum Mutat 33:104-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21634"">10.1002/humu.21634</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19423712"">19423712</a>
 著者        Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y
 タイトル      Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
 雑誌        J Biol Chem 284:18980-93 (2009)
 DOI:<a href=""https://doi.org/10.1074/jbc.M109.003160"">10.1074/jbc.M109.003160</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023331"">23023331</a>
 著者        Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
 タイトル      Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
 雑誌        Nat Genet 44:1265-71 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2426"">10.1038/ng.2426</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22279524"">22279524</a> (USH3B)
 著者        Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA
 タイトル      Genetic mapping and exome sequencing identify variants associated with five novel diseases.
 雑誌        PLoS One 7:e28936 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0028936"">10.1371/journal.pone.0028936</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29572253"">29572253</a>
 著者        Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S
 タイトル      Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
 雑誌        J Med Genet 55:479-488 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-105221"">10.1136/jmedgenet-2017-105221</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32455177"">32455177</a>
 著者        Abad-Morales V, Navarro R, Bures-Jelstrup A, Pomares E
 タイトル      Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.
 雑誌        Am J Ophthalmol Case Rep 19:100736 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajoc.2020.100736"">10.1016/j.ajoc.2020.100736</a>"
H00780,丘疹を伴う無毛症,,,"Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.",皮膚疾患,,HR [HSA:55806] [KO:K00478],,,,,,"ICD-11: EC21.2
 ICD-10: L72.8
 MeSH: C565924
 OMIM: 209500","PMID:18709303
 著者        Yip L, Horev L, Sinclair R, Zlotogorski A
 タイトル      Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.
 雑誌        Acta Derm Venereol 88:346-9 (2008)
 DOI:10.2340/00015555-0466
 PMID:21919222
 著者        Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W
 タイトル      Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
 雑誌        J Dermatol 38:755-60 (2011)
 DOI:10.1111/j.1346-8138.2010.01151.x
 PMID:21747609
 著者        Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS
 タイトル      Detection of a novel missense mutations in atrichia with papular lesions.
 雑誌        Ann Dermatol 23:132-7 (2011)
 DOI:10.5021/ad.2011.23.2.132
 PMID:17609203
 著者        Wang J, Malloy PJ, Feldman D
 タイトル      Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.
 雑誌        J Biol Chem 282:25231-9 (2007)
 DOI:10.1074/jbc.M702939200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00780"">H00780</a>",丘疹を伴う無毛症,"Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.",,"HR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55806"">55806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00478"">K00478</a>]",,,,,,"ICD-11: EC21.2
 ICD-10: L72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565924"">C565924</a>
 OMIM: <a href=""https://www.omim.org/entry/209500"">209500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18709303"">18709303</a>
 著者        Yip L, Horev L, Sinclair R, Zlotogorski A
 タイトル      Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.
 雑誌        Acta Derm Venereol 88:346-9 (2008)
 DOI:<a href=""https://doi.org/10.2340/00015555-0466"">10.2340/00015555-0466</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21919222"">21919222</a>
 著者        Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W
 タイトル      Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
 雑誌        J Dermatol 38:755-60 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2010.01151.x"">10.1111/j.1346-8138.2010.01151.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21747609"">21747609</a>
 著者        Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS
 タイトル      Detection of a novel missense mutations in atrichia with papular lesions.
 雑誌        Ann Dermatol 23:132-7 (2011)
 DOI:<a href=""https://doi.org/10.5021/ad.2011.23.2.132"">10.5021/ad.2011.23.2.132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17609203"">17609203</a>
 著者        Wang J, Malloy PJ, Feldman D
 タイトル      Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.
 雑誌        J Biol Chem 282:25231-9 (2007)
 DOI:<a href=""https://doi.org/10.1074/jbc.M702939200"">10.1074/jbc.M702939200</a>"
H00781,Schopf-Schulz-Passarge 症候群,,,"Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.",先天奇形,,WNT10A [HSA:80326] [KO:K01357],,,,,WNT10A mutations also underlie odonto-onycho-dermal dysplasia (H00646).,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: C565607
 OMIM: 224750","PMID:19002348
 著者        Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
 タイトル      Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
 雑誌        Acta Derm Venereol 88:607-12 (2008)
 DOI:10.2340/00015555-0547
 PMID:21143469
 著者        Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G
 タイトル      Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
 雑誌        Clin Genet 79:92-5 (2011)
 DOI:10.1111/j.1399-0004.2010.01513.x
 PMID:21834823
 著者        Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA
 タイトル      Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
 雑誌        Australas J Dermatol 52:224-6 (2011)
 DOI:10.1111/j.1440-0960.2011.00788.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00781"">H00781</a>",Schopf-Schulz-Passarge 症候群,"Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.",,"WNT10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80326"">80326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01357"">K01357</a>]",,,,,WNT10A mutations also underlie odonto-onycho-dermal dysplasia (H00646).,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565607"">C565607</a>
 OMIM: <a href=""https://www.omim.org/entry/224750"">224750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19002348"">19002348</a>
 著者        Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
 タイトル      Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
 雑誌        Acta Derm Venereol 88:607-12 (2008)
 DOI:<a href=""https://doi.org/10.2340/00015555-0547"">10.2340/00015555-0547</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21143469"">21143469</a>
 著者        Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G
 タイトル      Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
 雑誌        Clin Genet 79:92-5 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01513.x"">10.1111/j.1399-0004.2010.01513.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21834823"">21834823</a>
 著者        Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA
 タイトル      Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
 雑誌        Australas J Dermatol 52:224-6 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1440-0960.2011.00788.x"">10.1111/j.1440-0960.2011.00788.x</a>"
H00782,貧毛症および反復性皮膚小水疱,,,"Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the disease.",皮膚疾患,,DSC3 [HSA:1825] [KO:K07602],,,,,,"ICD-11: EC21.3
 MeSH: C567751
 OMIM: 613102","PMID:19765682
 著者        Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W
 タイトル      A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
 雑誌        Am J Hum Genet 85:515-20 (2009)
 DOI:10.1016/j.ajhg.2009.08.015
 PMID:20159115
 著者        Payne AS
 タイトル      No evidence of skin blisters with human desmocollin-3 gene mutation.
 雑誌        Am J Hum Genet 86:292; author reply 292 (2010)
 DOI:10.1016/j.ajhg.2009.09.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00782"">H00782</a>",貧毛症および反復性皮膚小水疱,"Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the disease.",,"DSC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1825"">1825</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07602"">K07602</a>]",,,,,,"ICD-11: EC21.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567751"">C567751</a>
 OMIM: <a href=""https://www.omim.org/entry/613102"">613102</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19765682"">19765682</a>
 著者        Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W
 タイトル      A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
 雑誌        Am J Hum Genet 85:515-20 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.08.015"">10.1016/j.ajhg.2009.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20159115"">20159115</a>
 著者        Payne AS
 タイトル      No evidence of skin blisters with human desmocollin-3 gene mutation.
 雑誌        Am J Hum Genet 86:292; author reply 292 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.021"">10.1016/j.ajhg.2009.09.021</a>"
H00783,"熱性けいれん
 下位グループ    熱性けいれん
 全般てんかん熱性けいれんプラス [DS:H02564]
 ドラべ症候群・乳児重症ミオクロニーてんかん [DS:H01818]",,,"Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy phenotypes such as Dravet syndrome (SMEI) have also been described within GEFS+ families. A significant genetic component exists for susceptibility to FS and GEFS+. Extensive genetic studies have shown that at least ten loci are responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+.",神経系疾患,,"(FEB2) HCN2 [HSA:610] [KO:K04955]
 (FEB3) SCN1A [HSA:6323] [KO:K04833]
 (FEB4) ADGRV1 [HSA:84059] [KO:K18263]
 (FEB8) GABRG2 [HSA:2566] [KO:K05186]
 (FEB11) CPA6 [HSA:57094] [KO:K08782]",,,,"ジアゼパム [DR:D00293]
 フェノバルビタールナトリウム [DR:D00701]",,"ICD-11: 8A63.0
 ICD-10: G40.3
 MeSH: D003294
 OMIM: 121210 602477 604403 604352 607681 614418","PMID:21858011
 著者        Piro RM, Molineris I, Ala U, Di Cunto F
 タイトル      Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
 雑誌        PLoS One 6:e23149 (2011)
 DOI:10.1371/journal.pone.0023149
 PMID:19201561
 著者        Nakayama J
 タイトル      Progress in searching for the febrile seizure susceptibility genes.
 雑誌        Brain Dev 31:359-65 (2009)
 DOI:10.1016/j.braindev.2008.11.014
 PMID:24324597 (HCN2)
 著者        Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S
 タイトル      Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.
 雑誌        PLoS One 8:e80376 (2013)
 DOI:10.1371/journal.pone.0080376
 PMID:16326807 (SCN1A)
 著者        Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A
 タイトル      Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
 雑誌        Proc Natl Acad Sci U S A 102:18177-82 (2005)
 DOI:10.1073/pnas.0506818102
 PMID:32962041 (ADGRV1)
 著者        Han JY, Lee HJ, Lee YM, Park J
 タイトル      Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.
 雑誌        Children (Basel) 7:E144 (2020)
 DOI:10.3390/children7090144
 PMID:27066572 (GABRG2)
 著者        Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S
 タイトル      Novel GABRG2 mutations cause familial febrile seizures.
 雑誌        Neurol Genet 1:e35 (2015)
 DOI:10.1212/NXG.0000000000000035
 PMID:21922598 (CPA6)
 著者        Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
 タイトル      Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
 雑誌        Hum Mutat 33:124-35 (2012)
 DOI:10.1002/humu.21613","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00783"">H00783</a>","熱性けいれん
 下位グループ    熱性けいれん
 全般てんかん熱性けいれんプラス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02564"">H02564</a>]
 ドラべ症候群・乳児重症ミオクロニーてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01818"">H01818</a>]","Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy phenotypes such as Dravet syndrome (SMEI) have also been described within GEFS+ families. A significant genetic component exists for susceptibility to FS and GEFS+. Extensive genetic studies have shown that at least ten loci are responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+.",,"(FEB2) HCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:610"">610</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04955"">K04955</a>]
 (FEB3) SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]
 (FEB4) ADGRV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84059"">84059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18263"">K18263</a>]
 (FEB8) GABRG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2566"">2566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05186"">K05186</a>]
 (FEB11) CPA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57094"">57094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08782"">K08782</a>]",,,,"ジアゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00293"">D00293</a>]
 フェノバルビタールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00701"">D00701</a>]",,"ICD-11: 8A63.0
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003294"">D003294</a>
 OMIM: <a href=""https://www.omim.org/entry/121210"">121210</a> <a href=""https://www.omim.org/entry/602477"">602477</a> <a href=""https://www.omim.org/entry/604403"">604403</a> <a href=""https://www.omim.org/entry/604352"">604352</a> <a href=""https://www.omim.org/entry/607681"">607681</a> <a href=""https://www.omim.org/entry/614418"">614418</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21858011"">21858011</a>
 著者        Piro RM, Molineris I, Ala U, Di Cunto F
 タイトル      Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
 雑誌        PLoS One 6:e23149 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0023149"">10.1371/journal.pone.0023149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19201561"">19201561</a>
 著者        Nakayama J
 タイトル      Progress in searching for the febrile seizure susceptibility genes.
 雑誌        Brain Dev 31:359-65 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.11.014"">10.1016/j.braindev.2008.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24324597"">24324597</a> (HCN2)
 著者        Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S
 タイトル      Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.
 雑誌        PLoS One 8:e80376 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0080376"">10.1371/journal.pone.0080376</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16326807"">16326807</a> (SCN1A)
 著者        Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A
 タイトル      Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
 雑誌        Proc Natl Acad Sci U S A 102:18177-82 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0506818102"">10.1073/pnas.0506818102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32962041"">32962041</a> (ADGRV1)
 著者        Han JY, Lee HJ, Lee YM, Park J
 タイトル      Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.
 雑誌        Children (Basel) 7:E144 (2020)
 DOI:<a href=""https://doi.org/10.3390/children7090144"">10.3390/children7090144</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27066572"">27066572</a> (GABRG2)
 著者        Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S
 タイトル      Novel GABRG2 mutations cause familial febrile seizures.
 雑誌        Neurol Genet 1:e35 (2015)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000035"">10.1212/NXG.0000000000000035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21922598"">21922598</a> (CPA6)
 著者        Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
 タイトル      Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
 雑誌        Hum Mutat 33:124-35 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21613"">10.1002/humu.21613</a>"
H00784,"限局性常染色体劣性遺伝性貧毛症
 上位グループ    乏毛症 [DS:H00786]",,,"Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal.",皮膚疾患,,"(LAH1) DSG4 [HSA:147409] [KO:K07599]
 (LAH2) LIPH [HSA:200879] [KO:K19404]
 (LAH3) P2Y5 [HSA:10161] [KO:K04273]",,,,,,"ICD-11: EC21.2
 ICD-10: L65.8
 MeSH: C564312 C536973 C566950
 OMIM: 607903 604379 278150","PMID:12705872
 著者        Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM
 タイトル      Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
 雑誌        Cell 113:249-60 (2003)
 DOI:10.1016/S0092-8674(03)00273-3
 PMID:17392831
 著者        Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM
 タイトル      Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
 雑誌        J Invest Dermatol 127:1779-82 (2007)
 DOI:10.1038/sj.jid.5700791
 PMID:18297070
 著者        Pasternack SM, von Kugelgen I, Aboud KA, Lee YA, Ruschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nurnberg P, Nothen MM, Betz RC
 タイトル      G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
 雑誌        Nat Genet 40:329-34 (2008)
 DOI:10.1038/ng.84
 PMID:17095700
 著者        Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI
 タイトル      Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
 雑誌        Science 314:982-5 (2006)
 DOI:10.1126/science.1133276
 PMID:11564167
 著者        Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G
 タイトル      Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
 雑誌        J Invest Dermatol 117:612-7 (2001)
 DOI:10.1046/j.0022-202x.2001.01438.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00784"">H00784</a>","限局性常染色体劣性遺伝性貧毛症
 上位グループ    乏毛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00786"">H00786</a>]","Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal.",,"(LAH1) DSG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147409"">147409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07599"">K07599</a>]
 (LAH2) LIPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200879"">200879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19404"">K19404</a>]
 (LAH3) P2Y5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10161"">10161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04273"">K04273</a>]",,,,,,"ICD-11: EC21.2
 ICD-10: L65.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564312"">C564312</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536973"">C536973</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566950"">C566950</a>
 OMIM: <a href=""https://www.omim.org/entry/607903"">607903</a> <a href=""https://www.omim.org/entry/604379"">604379</a> <a href=""https://www.omim.org/entry/278150"">278150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12705872"">12705872</a>
 著者        Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM
 タイトル      Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
 雑誌        Cell 113:249-60 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(03)00273-3"">10.1016/S0092-8674(03)00273-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17392831"">17392831</a>
 著者        Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM
 タイトル      Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
 雑誌        J Invest Dermatol 127:1779-82 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.jid.5700791"">10.1038/sj.jid.5700791</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18297070"">18297070</a>
 著者        Pasternack SM, von Kugelgen I, Aboud KA, Lee YA, Ruschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nurnberg P, Nothen MM, Betz RC
 タイトル      G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
 雑誌        Nat Genet 40:329-34 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.84"">10.1038/ng.84</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17095700"">17095700</a>
 著者        Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI
 タイトル      Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
 雑誌        Science 314:982-5 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1133276"">10.1126/science.1133276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11564167"">11564167</a>
 著者        Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G
 タイトル      Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
 雑誌        J Invest Dermatol 117:612-7 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.0022-202x.2001.01438.x"">10.1046/j.0022-202x.2001.01438.x</a>"
H00785,若年性黄斑変性を伴う先天性貧毛症,,,Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.,先天奇形,,CDH3 [HSA:1001] [KO:K06796],,,,,,"ICD-11: LD27.Y
 ICD-10: Q87.8
 MeSH: C537698
 OMIM: 601553","PMID:7648037
 著者        Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J
 タイトル      Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
 雑誌        Ophthalmic Genet 16:11-5 (1995)
 DOI:10.3109/13816819509057848
 PMID:16120155
 著者        Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E
 タイトル      Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
 雑誌        Br J Dermatol 153:635-8 (2005)
 DOI:10.1111/j.1365-2133.2005.06734.x
 PMID:12445216
 著者        Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E
 タイトル      A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
 雑誌        J Invest Dermatol 119:1210-3 (2002)
 DOI:10.1046/j.1523-1747.2002.19528.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00785"">H00785</a>",若年性黄斑変性を伴う先天性貧毛症,Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.,,"CDH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1001"">1001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06796"">K06796</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537698"">C537698</a>
 OMIM: <a href=""https://www.omim.org/entry/601553"">601553</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7648037"">7648037</a>
 著者        Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J
 タイトル      Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
 雑誌        Ophthalmic Genet 16:11-5 (1995)
 DOI:<a href=""https://doi.org/10.3109/13816819509057848"">10.3109/13816819509057848</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16120155"">16120155</a>
 著者        Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E
 タイトル      Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
 雑誌        Br J Dermatol 153:635-8 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06734.x"">10.1111/j.1365-2133.2005.06734.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12445216"">12445216</a>
 著者        Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E
 タイトル      A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
 雑誌        J Invest Dermatol 119:1210-3 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2002.19528.x"">10.1046/j.1523-1747.2002.19528.x</a>"
H00786,"乏毛症
 下位グループ    先天性単純型乏毛症 (HHS)
 限局性常染色体劣性遺伝性貧毛症 [DS:H00784]
 Marie-Unna 型先天性貧毛症 [DS:H00858]",,,"Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH). HHS is a rare autosomal dominant form that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating in an almost complete loss of scalp hair by the third decade.",皮膚疾患,,"(HYPT1) APCDD1 [HSA:147495] [KO:K25812]
 (HYPT2) CDSN [HSA:1041] [KO:K23457]
 (HYPT3) KRT74 [HSA:121391] [KO:K07605]
 (HYPT4) HRURF [HSA:120766137]
 (HYPT4/MUHH1) HR [HSA:55806] [KO:K00478]
 (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277]
 (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599]
 (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404]
 (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273]
 (HYPT11) SNRPE [HSA:6635] [KO:K11097]
 (HYPT12) RPL21 [HSA:6144] [KO:K02889]
 (HYPT13) KRT71 [HSA:112802] [KO:K07605]
 (HYPT14) LSS [HSA:4047] [KO:K01852]",,,,,,"ICD-11: EC21.2
 ICD-10: L65.9
 MeSH: D007039
 OMIM: 605389 146520 613981 146550 612841 607903 604379 278150 615059 615885 615896 618275","PMID:11994181
 著者        Vazquez MR, Rodriguez RR, Tapia AG, Diez LI
 タイトル      Hereditary hypotrichosis simplex of the scalp.
 雑誌        Pediatr Dermatol 19:148-50 (2002)
 DOI:10.1046/j.1525-1470.2002.00043.x
 PMID:20393562 (APCDD1)
 著者        Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM
 タイトル      APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
 雑誌        Nature 464:1043-7 (2010)
 DOI:10.1038/nature08875
 PMID:10793007 (CDSN)
 著者        Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nothen MM
 タイトル      A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
 雑誌        Am J Hum Genet 66:1979-83 (2000)
 DOI:10.1086/302934
 PMID:21188418 (KRT74)
 著者        Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W
 タイトル      Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
 雑誌        Hum Genet 129:419-24 (2011)
 DOI:10.1007/s00439-010-0938-9
 PMID:19122663 (HRURF HR)
 著者        Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X
 タイトル      Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
 雑誌        Nat Genet 41:228-33 (2009)
 DOI:10.1038/ng.276
 PMID:23099647 (EPS8L3)
 著者        Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ
 タイトル      Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
 雑誌        J Med Genet 49:727-30 (2012)
 DOI:10.1136/jmedgenet-2012-101134
 PMID:12705872 (DSG4)
 著者        Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM
 タイトル      Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
 雑誌        Cell 113:249-60 (2003)
 DOI:10.1016/S0092-8674(03)00273-3
 PMID:17095700 (LIPH)
 著者        Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI
 タイトル      Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
 雑誌        Science 314:982-5 (2006)
 DOI:10.1126/science.1133276
 PMID:18297072 (LPAR6)
 著者        Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM
 タイトル      Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
 雑誌        Nat Genet 40:335-9 (2008)
 DOI:10.1038/ng.100
 PMID:23246290 (SNRPE)
 著者        Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schafer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrandiz C, Nothen MM, Fischer U, Betz RC
 タイトル      Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
 雑誌        Am J Hum Genet 92:81-7 (2013)
 DOI:10.1016/j.ajhg.2012.10.022
 PMID:21412954 (RPL21)
 著者        Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J
 タイトル      Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
 雑誌        Hum Mutat 32:710-4 (2011)
 DOI:10.1002/humu.21503
 PMID:22592156 (KRT71)
 著者        Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y
 タイトル      A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
 雑誌        J Invest Dermatol 132:2342-9 (2012)
 DOI:10.1038/jid.2012.154
 PMID:30401459 (LSS)
 著者        Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmuller J, Nurnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lutjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC
 タイトル      Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
 雑誌        Am J Hum Genet 103:777-785 (2018)
 DOI:10.1016/j.ajhg.2018.09.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00786"">H00786</a>","乏毛症
 下位グループ    先天性単純型乏毛症 (HHS)
 限局性常染色体劣性遺伝性貧毛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00784"">H00784</a>]
 Marie-Unna 型先天性貧毛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00858"">H00858</a>]","Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH). HHS is a rare autosomal dominant form that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating in an almost complete loss of scalp hair by the third decade.",,"(HYPT1) APCDD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147495"">147495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25812"">K25812</a>]
 (HYPT2) CDSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1041"">1041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23457"">K23457</a>]
 (HYPT3) KRT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121391"">121391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (HYPT4) HRURF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120766137"">120766137</a>]
 (HYPT4/MUHH1) HR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55806"">55806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00478"">K00478</a>]
 (HYPT5/MUHH2) EPS8L3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79574"">79574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17277"">K17277</a>]
 (HYPT6/LAH1) DSG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147409"">147409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07599"">K07599</a>]
 (HYPT7/LAH2) LIPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200879"">200879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19404"">K19404</a>]
 (HYPT8/LAH3) LPAR6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10161"">10161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04273"">K04273</a>]
 (HYPT11) SNRPE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6635"">6635</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11097"">K11097</a>]
 (HYPT12) RPL21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6144"">6144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02889"">K02889</a>]
 (HYPT13) KRT71 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112802"">112802</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (HYPT14) LSS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4047"">4047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01852"">K01852</a>]",,,,,,"ICD-11: EC21.2
 ICD-10: L65.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007039"">D007039</a>
 OMIM: <a href=""https://www.omim.org/entry/605389"">605389</a> <a href=""https://www.omim.org/entry/146520"">146520</a> <a href=""https://www.omim.org/entry/613981"">613981</a> <a href=""https://www.omim.org/entry/146550"">146550</a> <a href=""https://www.omim.org/entry/612841"">612841</a> <a href=""https://www.omim.org/entry/607903"">607903</a> <a href=""https://www.omim.org/entry/604379"">604379</a> <a href=""https://www.omim.org/entry/278150"">278150</a> <a href=""https://www.omim.org/entry/615059"">615059</a> <a href=""https://www.omim.org/entry/615885"">615885</a> <a href=""https://www.omim.org/entry/615896"">615896</a> <a href=""https://www.omim.org/entry/618275"">618275</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11994181"">11994181</a>
 著者        Vazquez MR, Rodriguez RR, Tapia AG, Diez LI
 タイトル      Hereditary hypotrichosis simplex of the scalp.
 雑誌        Pediatr Dermatol 19:148-50 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1525-1470.2002.00043.x"">10.1046/j.1525-1470.2002.00043.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20393562"">20393562</a> (APCDD1)
 著者        Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM
 タイトル      APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
 雑誌        Nature 464:1043-7 (2010)
 DOI:<a href=""https://doi.org/10.1038/nature08875"">10.1038/nature08875</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10793007"">10793007</a> (CDSN)
 著者        Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nothen MM
 タイトル      A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
 雑誌        Am J Hum Genet 66:1979-83 (2000)
 DOI:<a href=""https://doi.org/10.1086/302934"">10.1086/302934</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21188418"">21188418</a> (KRT74)
 著者        Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W
 タイトル      Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
 雑誌        Hum Genet 129:419-24 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0938-9"">10.1007/s00439-010-0938-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19122663"">19122663</a> (HRURF <a href=""https://pubmed.ncbi.nlm.nih.gov/HR)"">HR)</a>
 著者        Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X
 タイトル      Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
 雑誌        Nat Genet 41:228-33 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.276"">10.1038/ng.276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23099647"">23099647</a> (EPS8L3)
 著者        Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ
 タイトル      Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
 雑誌        J Med Genet 49:727-30 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101134"">10.1136/jmedgenet-2012-101134</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12705872"">12705872</a> (DSG4)
 著者        Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM
 タイトル      Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
 雑誌        Cell 113:249-60 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(03)00273-3"">10.1016/S0092-8674(03)00273-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17095700"">17095700</a> (LIPH)
 著者        Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI
 タイトル      Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
 雑誌        Science 314:982-5 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1133276"">10.1126/science.1133276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18297072"">18297072</a> (LPAR6)
 著者        Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM
 タイトル      Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
 雑誌        Nat Genet 40:335-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.100"">10.1038/ng.100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23246290"">23246290</a> (SNRPE)
 著者        Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schafer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrandiz C, Nothen MM, Fischer U, Betz RC
 タイトル      Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
 雑誌        Am J Hum Genet 92:81-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.022"">10.1016/j.ajhg.2012.10.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412954"">21412954</a> (RPL21)
 著者        Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J
 タイトル      Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
 雑誌        Hum Mutat 32:710-4 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21503"">10.1002/humu.21503</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22592156"">22592156</a> (KRT71)
 著者        Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y
 タイトル      A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
 雑誌        J Invest Dermatol 132:2342-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/jid.2012.154"">10.1038/jid.2012.154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30401459"">30401459</a> (LSS)
 著者        Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmuller J, Nurnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lutjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC
 タイトル      Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
 雑誌        Am J Hum Genet 103:777-785 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.09.011"">10.1016/j.ajhg.2018.09.011</a>"
H00787,"夜盲症
 下位グループ    夜盲症 1型(CSNB1)
 夜盲症 2型(CSNB2)
 常染色体優性遺伝性夜盲症
 小口病",,,"Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal recessive genes (CABP4, GRK1, GRM6, SAG, TRPM1), and autosomal dominant genes (GNAT1, PDE6B, RHO). Two types of CSNB can be distinguished by use of the standard flash electroretinogram (ERG). CSNB type 1 (CSNB1) is characterized by the complete absence of rod pathway function, whereas CSNB type 2 (CSNB2) is caused by impaired rod and cone pathway function. Oguchi disease is a form of CSNB. Patients with the Oguchi disease have a unique yellowish-gold fundus that regains its normal color after prolonged dark adaptation. That is called the Mizuo-Nakamura phenomenon.",神経系疾患,,"(CSNB1A) NYX [HSA:60506] [KO:K08129]
 (CSNB1B) GRM6 [HSA:2916] [KO:K04608]
 (CSNB1C) TRPM1 [HSA:4308] [KO:K04976]
 (CSNB1D) SLC24A1 [HSA:9187] [KO:K13749]
 (CSNB1E) GPR179 [HSA:440435] [KO:K22961]
 (CSNB1F) LRIT3 [HSA:345193] [KO:K24491]
 (CSNB1H) GNB3 [HSA:2784] [KO:K07825]
 (CSNB2A) CACNA1F [HSA:778] [KO:K04853]
 (CSNB2B) CABP4 [HSA:57010] [KO:K23531]
 (CSNBAD1) RHO [HSA:6010] [KO:K04250]
 (CSNBAD2) PDE6B [HSA:5158] [KO:K13756]
 (CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631]
 (CSNBO1) SAG [HSA:6295] [KO:K19627]
 (CSNBO2) GRK1 [HSA:6011] [KO:K00909]",,,,"ビタミンA油 [DR:D00069]
 レチノールパルミチン酸エステル [DR:D00164]
 ビタミンA [DR:D06543]",,"ICD-11: 9D45
 ICD-10: H53.6
 MeSH: C536122 C537743
 OMIM: 310500 257270 613216 613830 614565 615058 616389 617024 300071 610427 610445 163500 610444 258100 613411","PMID:20301423 (CSNB1A/B, CSNB2A/B, CSNBAD)
 著者        Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
 タイトル      X-Linked Congenital Stationary Night Blindness
 雑誌        GeneReviews (1993)
 PMID:19896109 (CSNB1C)
 著者        van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M
 タイトル      Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 85:730-6 (2009)
 DOI:10.1016/j.ajhg.2009.10.012
 PMID:20850105 (CSNB1D)
 著者        Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF
 タイトル      A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
 雑誌        Am J Hum Genet 87:523-31 (2010)
 DOI:10.1016/j.ajhg.2010.08.013
 PMID:22325361 (CSNB1E)
 著者        Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C
 タイトル      Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 90:321-30 (2012)
 DOI:10.1016/j.ajhg.2011.12.007
 PMID:23246293 (CSNB1F)
 著者        Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I
 タイトル      Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 92:67-75 (2013)
 DOI:10.1016/j.ajhg.2012.10.023
 PMID:27063057 (CSNB1H)
 著者        Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Heon E
 タイトル      Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
 雑誌        Am J Hum Genet 98:1011-1019 (2016)
 DOI:10.1016/j.ajhg.2016.03.021
 PMID:21920492 (CSNB2A, CSNB2B)
 著者        Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
 タイトル      Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
 雑誌        Am J Ophthalmol 153:143-54.e2 (2012)
 DOI:10.1016/j.ajo.2011.06.018
 PMID:7670478 (CSNBO1)
 著者        Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A
 タイトル      A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
 雑誌        Nat Genet 10:360-2 (1995)
 DOI:10.1038/ng0795-360
 PMID:17765441 (CSNBO2)
 著者        Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N
 タイトル      Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
 雑誌        Am J Ophthalmol 144:475-7 (2007)
 DOI:10.1016/j.ajo.2007.03.025","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00787"">H00787</a>","夜盲症
 下位グループ    夜盲症 1型(CSNB1)
 夜盲症 2型(CSNB2)
 常染色体優性遺伝性夜盲症
 小口病","Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal recessive genes (CABP4, GRK1, GRM6, SAG, TRPM1), and autosomal dominant genes (GNAT1, PDE6B, RHO). Two types of CSNB can be distinguished by use of the standard flash electroretinogram (ERG). CSNB type 1 (CSNB1) is characterized by the complete absence of rod pathway function, whereas CSNB type 2 (CSNB2) is caused by impaired rod and cone pathway function. Oguchi disease is a form of CSNB. Patients with the Oguchi disease have a unique yellowish-gold fundus that regains its normal color after prolonged dark adaptation. That is called the Mizuo-Nakamura phenomenon.",,"(CSNB1A) NYX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60506"">60506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08129"">K08129</a>]
 (CSNB1B) GRM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2916"">2916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04608"">K04608</a>]
 (CSNB1C) TRPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4308"">4308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04976"">K04976</a>]
 (CSNB1D) SLC24A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9187"">9187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13749"">K13749</a>]
 (CSNB1E) GPR179 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440435"">440435</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22961"">K22961</a>]
 (CSNB1F) LRIT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345193"">345193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24491"">K24491</a>]
 (CSNB1H) GNB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2784"">2784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07825"">K07825</a>]
 (CSNB2A) CACNA1F [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:778"">778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04853"">K04853</a>]
 (CSNB2B) CABP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57010"">57010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23531"">K23531</a>]
 (CSNBAD1) RHO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6010"">6010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04250"">K04250</a>]
 (CSNBAD2) PDE6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5158"">5158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13756"">K13756</a>]
 (CSNBAD3 CSNB1G) GNAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2779"">2779</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04631"">K04631</a>]
 (CSNBO1) SAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6295"">6295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19627"">K19627</a>]
 (CSNBO2) GRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6011"">6011</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00909"">K00909</a>]",,,,"ビタミンA油 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00069"">D00069</a>]
 レチノールパルミチン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00164"">D00164</a>]
 ビタミンA [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06543"">D06543</a>]",,"ICD-11: 9D45
 ICD-10: H53.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536122"">C536122</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537743"">C537743</a>
 OMIM: <a href=""https://www.omim.org/entry/310500"">310500</a> <a href=""https://www.omim.org/entry/257270"">257270</a> <a href=""https://www.omim.org/entry/613216"">613216</a> <a href=""https://www.omim.org/entry/613830"">613830</a> <a href=""https://www.omim.org/entry/614565"">614565</a> <a href=""https://www.omim.org/entry/615058"">615058</a> <a href=""https://www.omim.org/entry/616389"">616389</a> <a href=""https://www.omim.org/entry/617024"">617024</a> <a href=""https://www.omim.org/entry/300071"">300071</a> <a href=""https://www.omim.org/entry/610427"">610427</a> <a href=""https://www.omim.org/entry/610445"">610445</a> <a href=""https://www.omim.org/entry/163500"">163500</a> <a href=""https://www.omim.org/entry/610444"">610444</a> <a href=""https://www.omim.org/entry/258100"">258100</a> <a href=""https://www.omim.org/entry/613411"">613411</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301423"">20301423</a> (CSNB1A/B, <a href=""https://pubmed.ncbi.nlm.nih.gov/CSNB2A/B,"">CSNB2A/B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CSNBAD)"">CSNBAD)</a>
 著者        Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
 タイトル      X-Linked Congenital Stationary Night Blindness
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19896109"">19896109</a> (CSNB1C)
 著者        van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M
 タイトル      Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 85:730-6 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.10.012"">10.1016/j.ajhg.2009.10.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20850105"">20850105</a> (CSNB1D)
 著者        Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF
 タイトル      A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
 雑誌        Am J Hum Genet 87:523-31 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.013"">10.1016/j.ajhg.2010.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22325361"">22325361</a> (CSNB1E)
 著者        Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C
 タイトル      Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 90:321-30 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.007"">10.1016/j.ajhg.2011.12.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23246293"">23246293</a> (CSNB1F)
 著者        Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I
 タイトル      Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
 雑誌        Am J Hum Genet 92:67-75 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.023"">10.1016/j.ajhg.2012.10.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27063057"">27063057</a> (CSNB1H)
 著者        Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Heon E
 タイトル      Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
 雑誌        Am J Hum Genet 98:1011-1019 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.021"">10.1016/j.ajhg.2016.03.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21920492"">21920492</a> (CSNB2A, <a href=""https://pubmed.ncbi.nlm.nih.gov/CSNB2B)"">CSNB2B)</a>
 著者        Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
 タイトル      Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
 雑誌        Am J Ophthalmol 153:143-54.e2 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajo.2011.06.018"">10.1016/j.ajo.2011.06.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7670478"">7670478</a> (CSNBO1)
 著者        Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A
 タイトル      A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
 雑誌        Nat Genet 10:360-2 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0795-360"">10.1038/ng0795-360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17765441"">17765441</a> (CSNBO2)
 著者        Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N
 タイトル      Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
 雑誌        Am J Ophthalmol 144:475-7 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ajo.2007.03.025"">10.1016/j.ajo.2007.03.025</a>"
H00788,"Hoyeraal-Hreidarsson 症候群;
 X連鎖先天性角化異常症
 上位グループ    先天性角化異常症 [DS:H00507]",,,"Hoyeraal-Hreidarsson syndrome is a severe variant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.",リボソーム病,,DKC1 [HSA:1736] [KO:K11131],,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 MeSH: C536068
 OMIM: 305000","PMID:14648217
 著者        Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A
 タイトル      Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
 雑誌        Eur J Pediatr 162:863-7 (2003)
 DOI:10.1007/s00431-003-1317-5
 PMID:20205257
 著者        Valera ET, Brassesco MS, Roxo P Jr, Lourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET
 タイトル      Genomic instability in Hoyeraal-Hreidarsson syndrome.
 雑誌        Pediatr Blood Cancer 54:779-80 (2010)
 DOI:10.1002/pbc.22446","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00788"">H00788</a>","Hoyeraal-Hreidarsson 症候群;
 X連鎖先天性角化異常症
 上位グループ    先天性角化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00507"">H00507</a>]","Hoyeraal-Hreidarsson syndrome is a severe variant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.",,"DKC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1736"">1736</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11131"">K11131</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536068"">C536068</a>
 OMIM: <a href=""https://www.omim.org/entry/305000"">305000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14648217"">14648217</a>
 著者        Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A
 タイトル      Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
 雑誌        Eur J Pediatr 162:863-7 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00431-003-1317-5"">10.1007/s00431-003-1317-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20205257"">20205257</a>
 著者        Valera ET, Brassesco MS, Roxo P Jr, Lourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET
 タイトル      Genomic instability in Hoyeraal-Hreidarsson syndrome.
 雑誌        Pediatr Blood Cancer 54:779-80 (2010)
 DOI:<a href=""https://doi.org/10.1002/pbc.22446"">10.1002/pbc.22446</a>"
H00789,円錐角膜,,,Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial.,神経系疾患,,"(KTCN1) VSX1 [HSA:30813] [KO:K09335]
 (KTCN9) TUBA3D [HSA:113457] [KO:K07374]",,,,,"Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:H00661], Marfan syndrome [DS:H00653], and Ehlers-Danlos syndrome [DS:H00802].","ICD-11: 9A78.50
 ICD-10: H19.8 Q87.8
 MeSH: D007640
 OMIM: 148300 617928","PMID:11778802
 著者        Edwards M, McGhee CN, Dean S
 タイトル      The genetics of keratoconus.
 雑誌        Clin Experiment Ophthalmol 29:345-51 (2001)
 DOI:10.1046/j.1442-9071.2001.d01-16.x
 PMID:20537579 (description, gene, marker)
 著者        Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS
 タイトル      Keratoconus: a review.
 雑誌        Cont Lens Anterior Eye 33:157-66; quiz 205 (2010)
 DOI:10.1016/j.clae.2010.04.006
 PMID:21976959
 著者        De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L
 タイトル      Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
 雑誌        Mol Vis 17:2482-94 (2011)
 PMID:29051577
 著者        Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H
 タイトル      De novo mutations of TUBA3D are associated with keratoconus.
 雑誌        Sci Rep 7:13570 (2017)
 DOI:10.1038/s41598-017-13162-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00789"">H00789</a>",円錐角膜,Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial.,,"(KTCN1) VSX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30813"">30813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09335"">K09335</a>]
 (KTCN9) TUBA3D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113457"">113457</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07374"">K07374</a>]",,,,,"Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00661],"">H00661],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Marfan"">Marfan</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653],"">H00653],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Ehlers-Danlos"">Ehlers-Danlos</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802]."">H00802].</a>","ICD-11: 9A78.50
 ICD-10: H19.8 Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007640"">D007640</a>
 OMIM: <a href=""https://www.omim.org/entry/148300"">148300</a> <a href=""https://www.omim.org/entry/617928"">617928</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11778802"">11778802</a>
 著者        Edwards M, McGhee CN, Dean S
 タイトル      The genetics of keratoconus.
 雑誌        Clin Experiment Ophthalmol 29:345-51 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.1442-9071.2001.d01-16.x"">10.1046/j.1442-9071.2001.d01-16.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20537579"">20537579</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS
 タイトル      Keratoconus: a review.
 雑誌        Cont Lens Anterior Eye 33:157-66; quiz 205 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.clae.2010.04.006"">10.1016/j.clae.2010.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21976959"">21976959</a>
 著者        De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L
 タイトル      Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
 雑誌        Mol Vis 17:2482-94 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29051577"">29051577</a>
 著者        Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H
 タイトル      De novo mutations of TUBA3D are associated with keratoconus.
 雑誌        Sci Rep 7:13570 (2017)
 DOI:<a href=""https://doi.org/10.1038/s41598-017-13162-0"">10.1038/s41598-017-13162-0</a>"
H00790,KLICK 症候群,,,"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre linear hyperkeratotic papules on the flexural side of large joints. There is no associated systemic involvement. The disease is inherited as an autosomal-recessive trait.",先天奇形,,POMP [HSA:51371] [KO:K11599],,,,,,"ICD-11: EC20.0Y
 ICD-10: Q82.8
 MeSH: C566600
 OMIM: 601952","PMID:9188877
 著者        Vahlquist A, Ponten F, Pettersson A
 タイトル      Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?
 雑誌        Acta Derm Venereol 77:225-7 (1997)
 DOI:10.2340/0001555577225227
 PMID:21738991
 著者        Baeta IG, Pereira AC, Guedes AC, Pereira LB
 タイトル      Do you know this syndrome?
 雑誌        An Bras Dermatol 86:605-7 (2011)
 DOI:10.1590/S0365-05962011000300036
 PMID:20226437
 著者        Dahlqvist J, Klar J, Tiwari N, Schuster J, Torma H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N
 タイトル      A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
 雑誌        Am J Hum Genet 86:596-603 (2010)
 DOI:10.1016/j.ajhg.2010.02.018
 PMID:21571163
 著者        Horev L, Murad S, Maly A, Zlotogorski A
 タイトル      Aggressive cutaneous squamous cell carcinoma in a patient with KLICK.
 雑誌        J Am Acad Dermatol 64:e128-30 (2011)
 DOI:10.1016/j.jaad.2010.12.030","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00790"">H00790</a>",KLICK 症候群,"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre linear hyperkeratotic papules on the flexural side of large joints. There is no associated systemic involvement. The disease is inherited as an autosomal-recessive trait.",,"POMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51371"">51371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11599"">K11599</a>]",,,,,,"ICD-11: EC20.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566600"">C566600</a>
 OMIM: <a href=""https://www.omim.org/entry/601952"">601952</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9188877"">9188877</a>
 著者        Vahlquist A, Ponten F, Pettersson A
 タイトル      Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?
 雑誌        Acta Derm Venereol 77:225-7 (1997)
 DOI:<a href=""https://doi.org/10.2340/0001555577225227"">10.2340/0001555577225227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21738991"">21738991</a>
 著者        Baeta IG, Pereira AC, Guedes AC, Pereira LB
 タイトル      Do you know this syndrome?
 雑誌        An Bras Dermatol 86:605-7 (2011)
 DOI:<a href=""https://doi.org/10.1590/S0365-05962011000300036"">10.1590/S0365-05962011000300036</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20226437"">20226437</a>
 著者        Dahlqvist J, Klar J, Tiwari N, Schuster J, Torma H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N
 タイトル      A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
 雑誌        Am J Hum Genet 86:596-603 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.018"">10.1016/j.ajhg.2010.02.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21571163"">21571163</a>
 著者        Horev L, Murad S, Maly A, Zlotogorski A
 タイトル      Aggressive cutaneous squamous cell carcinoma in a patient with KLICK.
 雑誌        J Am Acad Dermatol 64:e128-30 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2010.12.030"">10.1016/j.jaad.2010.12.030</a>"
H00791,播種性表在性光線性汗孔角化症,,,Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. It is induced by exposure to ultraviolet light and usually appears during the third or fourth decade.,先天奇形,,SART3 [HSA:9733] [KO:K22611],,"sun exposure
 immunosuppression
 bone marrow transplantation
 ultraviolet A therapy
 Psoralen [CPD:C09305]",,,,"ICD-11: ED52
 ICD-10: Q82.8
 MeSH: D017499
 OMIM: 175900","PMID:21929548
 著者        Sertznig P, von Felbert V, Megahed M
 タイトル      Porokeratosis: present concepts.
 雑誌        J Eur Acad Dermatol Venereol 26:404-12 (2012)
 DOI:10.1111/j.1468-3083.2011.04275.x
 PMID:2754051
 著者        Shumack SP, Commens CA
 タイトル      Disseminated superficial actinic porokeratosis: a clinical study.
 雑誌        J Am Acad Dermatol 20:1015-22 (1989)
 DOI:10.1016/S0190-9622(89)70126-2
 PMID:21914157 (description, env_factor)
 著者        Kawara S, Oiso N, Kawada A
 タイトル      Disseminated superficial actinic porokeratosis in a patient undergoing treatment with long-term narrowband ultraviolet B for psoriasis.
 雑誌        J Dermatol 38:585-7 (2011)
 DOI:10.1111/j.1346-8138.2010.01099.x
 PMID:20451293
 著者        Murase J, Gilliam AC
 タイトル      Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis.
 雑誌        J Am Acad Dermatol 63:886-91 (2010)
 DOI:10.1016/j.jaad.2009.07.038
 PMID:22121283
 著者        Kanak K, Jaiswal AK, Reddy P
 タイトル      Disseminated superficial and warty type of porokeratosis: a rare coexistence.
 雑誌        Indian J Dermatol 56:576-7 (2011)
 DOI:10.4103/0019-5154.87160
 PMID:15840095
 著者        Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W
 タイトル      A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.
 雑誌        Br J Dermatol 152:658-63 (2005)
 DOI:10.1111/j.1365-2133.2005.06443.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00791"">H00791</a>",播種性表在性光線性汗孔角化症,Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. It is induced by exposure to ultraviolet light and usually appears during the third or fourth decade.,,"SART3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9733"">9733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22611"">K22611</a>]",,"sun exposure
 immunosuppression
 bone marrow transplantation
 ultraviolet A therapy
 Psoralen [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C09305"">C09305</a>]",,,,"ICD-11: ED52
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017499"">D017499</a>
 OMIM: <a href=""https://www.omim.org/entry/175900"">175900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929548"">21929548</a>
 著者        Sertznig P, von Felbert V, Megahed M
 タイトル      Porokeratosis: present concepts.
 雑誌        J Eur Acad Dermatol Venereol 26:404-12 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2011.04275.x"">10.1111/j.1468-3083.2011.04275.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2754051"">2754051</a>
 著者        Shumack SP, Commens CA
 タイトル      Disseminated superficial actinic porokeratosis: a clinical study.
 雑誌        J Am Acad Dermatol 20:1015-22 (1989)
 DOI:<a href=""https://doi.org/10.1016/S0190-9622(89)70126-2"">10.1016/S0190-9622(89)70126-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21914157"">21914157</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Kawara S, Oiso N, Kawada A
 タイトル      Disseminated superficial actinic porokeratosis in a patient undergoing treatment with long-term narrowband ultraviolet B for psoriasis.
 雑誌        J Dermatol 38:585-7 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2010.01099.x"">10.1111/j.1346-8138.2010.01099.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20451293"">20451293</a>
 著者        Murase J, Gilliam AC
 タイトル      Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis.
 雑誌        J Am Acad Dermatol 63:886-91 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2009.07.038"">10.1016/j.jaad.2009.07.038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22121283"">22121283</a>
 著者        Kanak K, Jaiswal AK, Reddy P
 タイトル      Disseminated superficial and warty type of porokeratosis: a rare coexistence.
 雑誌        Indian J Dermatol 56:576-7 (2011)
 DOI:<a href=""https://doi.org/10.4103/0019-5154.87160"">10.4103/0019-5154.87160</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15840095"">15840095</a>
 著者        Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W
 タイトル      A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.
 雑誌        Br J Dermatol 152:658-63 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2005.06443.x"">10.1111/j.1365-2133.2005.06443.x</a>"
H00792,ワールブルグ・ ミクロ症候群,,,"Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.",先天奇形,,"(WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
 (WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
 (WARBM3) RAB18 [HSA:22931] [KO:K07910]
 (WARBM4) TBC1D20 [HSA:128637] [KO:K20372]",,,,,,"ICD-11: LD20.1
 ICD-10: Q04.3
 MeSH: C536681
 OMIM: 600118 614225 614222 615663","PMID:15216543
 著者        Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
 タイトル      MICRO syndrome: an entity distinct from COFS syndrome.
 雑誌        Am J Med Genet A 128A:235-45 (2004)
 DOI:10.1002/ajmg.a.30060
 PMID:20512159 (RAB3GAP1)
 著者        Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Muller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F
 タイトル      New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
 雑誌        Eur J Hum Genet 18:1100-6 (2010)
 DOI:10.1038/ejhg.2010.79
 PMID:20967465 (RAB3GAP2)
 著者        Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
 タイトル      A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
 雑誌        Hum Genet 129:45-50 (2011)
 DOI:10.1007/s00439-010-0896-2
 PMID:21473985 (RAB18)
 著者        Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA
 タイトル      Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
 雑誌        Am J Hum Genet 88:499-507 (2011)
 DOI:10.1016/j.ajhg.2011.03.012
 PMID:24239381 (TBC1D20)
 著者        Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ
 タイトル      Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
 雑誌        Am J Hum Genet 93:1001-14 (2013)
 DOI:10.1016/j.ajhg.2013.10.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00792"">H00792</a>",ワールブルグ・ ミクロ症候群,"Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.",,"(WARBM1) RAB3GAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22930"">22930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18270"">K18270</a>]
 (WARBM2) RAB3GAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25782"">25782</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19937"">K19937</a>]
 (WARBM3) RAB18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22931"">22931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07910"">K07910</a>]
 (WARBM4) TBC1D20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128637"">128637</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20372"">K20372</a>]",,,,,,"ICD-11: LD20.1
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536681"">C536681</a>
 OMIM: <a href=""https://www.omim.org/entry/600118"">600118</a> <a href=""https://www.omim.org/entry/614225"">614225</a> <a href=""https://www.omim.org/entry/614222"">614222</a> <a href=""https://www.omim.org/entry/615663"">615663</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15216543"">15216543</a>
 著者        Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
 タイトル      MICRO syndrome: an entity distinct from COFS syndrome.
 雑誌        Am J Med Genet A 128A:235-45 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30060"">10.1002/ajmg.a.30060</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20512159"">20512159</a> (RAB3GAP1)
 著者        Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Muller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F
 タイトル      New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
 雑誌        Eur J Hum Genet 18:1100-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.79"">10.1038/ejhg.2010.79</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20967465"">20967465</a> (RAB3GAP2)
 著者        Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
 タイトル      A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
 雑誌        Hum Genet 129:45-50 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0896-2"">10.1007/s00439-010-0896-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21473985"">21473985</a> (RAB18)
 著者        Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA
 タイトル      Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
 雑誌        Am J Hum Genet 88:499-507 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.012"">10.1016/j.ajhg.2011.03.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24239381"">24239381</a> (TBC1D20)
 著者        Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ
 タイトル      Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
 雑誌        Am J Hum Genet 93:1001-14 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.011"">10.1016/j.ajhg.2013.10.011</a>"
H00793,好中球減少を伴う多形皮膚萎縮症,,,"Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition.",皮膚疾患,,USB1 [HSA:79650] [KO:K23093],,,,,Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical overlap with this disease.,"ICD-11: EC10
 ICD-10: L81.6
 MeSH: C565820
 OMIM: 604173","PMID:21967010
 著者        Chantorn R, Shwayder T
 タイトル      Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
 雑誌        Pediatr Dermatol 29:463-72 (2012)
 DOI:10.1111/j.1525-1470.2011.01513.x
 PMID:20618321
 著者        Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C
 タイトル      Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
 雑誌        Br J Dermatol 163:866-9 (2010)
 DOI:10.1111/j.1365-2133.2010.09929.x
 PMID:20817924
 著者        Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I
 タイトル      Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
 雑誌        Hum Mol Genet 19:4453-61 (2010)
 DOI:10.1093/hmg/ddq371
 PMID:15558713
 著者        Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M
 タイトル      Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
 雑誌        Am J Med Genet A 132A:152-8 (2005)
 DOI:10.1002/ajmg.a.30430","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00793"">H00793</a>",好中球減少を伴う多形皮膚萎縮症,"Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition.",,"USB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79650"">79650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23093"">K23093</a>]",,,,,Dyskeratosis congenita (H00507) and Rothmund-Thomson syndrome (H00296) display clinical overlap with this disease.,"ICD-11: EC10
 ICD-10: L81.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565820"">C565820</a>
 OMIM: <a href=""https://www.omim.org/entry/604173"">604173</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21967010"">21967010</a>
 著者        Chantorn R, Shwayder T
 タイトル      Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
 雑誌        Pediatr Dermatol 29:463-72 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2011.01513.x"">10.1111/j.1525-1470.2011.01513.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20618321"">20618321</a>
 著者        Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C
 タイトル      Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
 雑誌        Br J Dermatol 163:866-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.09929.x"">10.1111/j.1365-2133.2010.09929.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20817924"">20817924</a>
 著者        Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I
 タイトル      Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
 雑誌        Hum Mol Genet 19:4453-61 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq371"">10.1093/hmg/ddq371</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15558713"">15558713</a>
 著者        Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M
 タイトル      Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
 雑誌        Am J Med Genet A 132A:152-8 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30430"">10.1002/ajmg.a.30430</a>"
H00794,アロマターゼ過剰症,,,"Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients experience premature breast development.",内分泌系疾患,,CYP19A1 (gain of function) [HSA:1588] [KO:K07434],,,,,,"ICD-11: 5A92
 ICD-10: E30.1
 MeSH: C537436
 OMIM: 139300","PMID:21470988
 著者        Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T
 タイトル      Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
 雑誌        J Clin Endocrinol Metab 96:E1035-43 (2011)
 DOI:10.1210/jc.2011-0145
 PMID:17584767
 著者        Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Mendonca BB, Hanaki K, Kanzaki S, Rhoads DB, Misra M, Bulun SE
 タイトル      Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.
 雑誌        Hum Mol Genet 16:2529-41 (2007)
 DOI:10.1093/hmg/ddm145
 PMID:12736278
 著者        Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE
 タイトル      Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.
 雑誌        N Engl J Med 348:1855-65 (2003)
 DOI:10.1056/NEJMoa021559","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00794"">H00794</a>",アロマターゼ過剰症,"Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients experience premature breast development.",,"CYP19A1 (gain of function) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1588"">1588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07434"">K07434</a>]",,,,,,"ICD-11: 5A92
 ICD-10: E30.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537436"">C537436</a>
 OMIM: <a href=""https://www.omim.org/entry/139300"">139300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21470988"">21470988</a>
 著者        Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T
 タイトル      Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
 雑誌        J Clin Endocrinol Metab 96:E1035-43 (2011)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-0145"">10.1210/jc.2011-0145</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17584767"">17584767</a>
 著者        Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Mendonca BB, Hanaki K, Kanzaki S, Rhoads DB, Misra M, Bulun SE
 タイトル      Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.
 雑誌        Hum Mol Genet 16:2529-41 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm145"">10.1093/hmg/ddm145</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12736278"">12736278</a>
 著者        Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE
 タイトル      Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.
 雑誌        N Engl J Med 348:1855-65 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa021559"">10.1056/NEJMoa021559</a>"
H00795,乾癬を伴う脂漏様皮膚炎,,,"Seborrhea-like dermatosis with psoriasiform elements is a chronic dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc finger protein, have been reported.",皮膚疾患,,ZNF750 [HSA:79755] [KO:K24377],,,,,,"ICD-11: EA81
 MeSH: C565217
 OMIM: 610227","PMID:16751772
 著者        Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS
 タイトル      Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.
 雑誌        Nat Genet 38:749-51 (2006)
 DOI:10.1038/ng1813","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00795"">H00795</a>",乾癬を伴う脂漏様皮膚炎,"Seborrhea-like dermatosis with psoriasiform elements is a chronic dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc finger protein, have been reported.",,"ZNF750 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79755"">79755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24377"">K24377</a>]",,,,,,"ICD-11: EA81
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565217"">C565217</a>
 OMIM: <a href=""https://www.omim.org/entry/610227"">610227</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16751772"">16751772</a>
 著者        Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS
 タイトル      Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.
 雑誌        Nat Genet 38:749-51 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1813"">10.1038/ng1813</a>"
H00796,網状色素性皮膚症,,,"Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the disease are palmoplantar keratoderma and hypohidrosis.",先天奇形,,KRT14 [HSA:3861] [KO:K07604],,,,,Naegeli-Franceschetti-Jadassohn syndrome (H00708) is an allelic disorder .,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: C535374
 OMIM: 125595","PMID:17958818
 著者        Brar BK, Mehta V, Kubba A
 タイトル      Dermatopathia pigmentosa reticularis.
 雑誌        Pediatr Dermatol 24:566-70 (2007)
 DOI:10.1111/j.1525-1470.2007.00526.x
 PMID:20180888
 著者        van Steensel MA, Lemmink HH
 タイトル      A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
 雑誌        J Eur Acad Dermatol Venereol 24:1116-7 (2010)
 DOI:10.1111/j.1468-3083.2010.03598.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00796"">H00796</a>",網状色素性皮膚症,"Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the disease are palmoplantar keratoderma and hypohidrosis.",,"KRT14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3861"">3861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,Naegeli-Franceschetti-Jadassohn syndrome (H00708) is an allelic disorder .,"ICD-11: LD27.0Y
 ICD-10: Q82.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535374"">C535374</a>
 OMIM: <a href=""https://www.omim.org/entry/125595"">125595</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17958818"">17958818</a>
 著者        Brar BK, Mehta V, Kubba A
 タイトル      Dermatopathia pigmentosa reticularis.
 雑誌        Pediatr Dermatol 24:566-70 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2007.00526.x"">10.1111/j.1525-1470.2007.00526.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20180888"">20180888</a>
 著者        van Steensel MA, Lemmink HH
 タイトル      A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
 雑誌        J Eur Acad Dermatol Venereol 24:1116-7 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2010.03598.x"">10.1111/j.1468-3083.2010.03598.x</a>"
H00797,Martsolf 症候群,,,"Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia.",先天奇形,,RAB3GAP2 [HSA:25782] [KO:K19937],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536028
 OMIM: 212720","PMID:2738902
 著者        Harbord MG, Baraitser M, Wilson J
 タイトル      Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
 雑誌        J Med Genet 26:397-400 (1989)
 DOI:10.1136/jmg.26.6.397
 PMID:16532399
 著者        Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER
 タイトル      Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
 雑誌        Am J Hum Genet 78:702-7 (2006)
 DOI:10.1086/502681
 PMID:17394201
 著者        Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K
 タイトル      Martsolf syndrome in Japanese siblings.
 雑誌        Am J Med Genet A 143A:973-8 (2007)
 DOI:10.1002/ajmg.a.31626
 PMID:20967465
 著者        Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
 タイトル      A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
 雑誌        Hum Genet 129:45-50 (2011)
 DOI:10.1007/s00439-010-0896-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00797"">H00797</a>",Martsolf 症候群,"Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia.",,"RAB3GAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25782"">25782</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19937"">K19937</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536028"">C536028</a>
 OMIM: <a href=""https://www.omim.org/entry/212720"">212720</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2738902"">2738902</a>
 著者        Harbord MG, Baraitser M, Wilson J
 タイトル      Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
 雑誌        J Med Genet 26:397-400 (1989)
 DOI:<a href=""https://doi.org/10.1136/jmg.26.6.397"">10.1136/jmg.26.6.397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16532399"">16532399</a>
 著者        Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER
 タイトル      Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
 雑誌        Am J Hum Genet 78:702-7 (2006)
 DOI:<a href=""https://doi.org/10.1086/502681"">10.1086/502681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17394201"">17394201</a>
 著者        Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K
 タイトル      Martsolf syndrome in Japanese siblings.
 雑誌        Am J Med Genet A 143A:973-8 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31626"">10.1002/ajmg.a.31626</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20967465"">20967465</a>
 著者        Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
 タイトル      A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
 雑誌        Hum Genet 129:45-50 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0896-2"">10.1007/s00439-010-0896-2</a>"
H00798,家族性手根管症候群,,,"Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with bilateral symptom that is frequently associated with inherited systemic disorders such as mucopolysaccharidosis, mucolipidosis, amyloidosis, collagen vascular disease or hereditary liability to pressure palsies. The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported.",神経系疾患,,"(CTS1) TTR [HSA:7276] [KO:K20731]
 (CTS2) COMP [HSA:1311] [KO:K04659]",,,,,,"ICD-11: 8C10.0
 ICD-10: G56.0
 MeSH: D002349
 OMIM: 115430 619161","PMID:9052822
 著者        Vadasz AG, Chance PF, Epstein LG, Lou JS
 タイトル      Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old-case report and review of the literature.
 雑誌        Muscle Nerve 20:376-8 (1997)
 DOI:10.1002/(SICI)1097-4598(199703)20:3<376::AID-MUS20>3.0.CO;2-Y
 PMID:9831348
 著者        Stoll C, Maitrot D
 タイトル      Autosomal dominant carpal tunnel syndrome.
 雑誌        Clin Genet 54:345-8 (1998)
 DOI:10.1034/j.1399-0004.1998.5440414.x
 PMID:19756731
 著者        Senel S, Ceylaner G, Yuksel D, Erkek N, Karacan C
 タイトル      Familial primary carpal tunnel syndrome with possible skipped generation.
 雑誌        Eur J Pediatr 169:453-5 (2010)
 DOI:10.1007/s00431-009-1055-4
 PMID:8309582 (CTS1)
 著者        Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M
 タイトル      Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
 雑誌        Neurology 44:315-8 (1994)
 DOI:10.1212/WNL.44.2.315
 PMID:32686688 (CTS2)
 著者        Li C, Wang N, Schaffer AA, Liu X, Zhao Z, Elliott G, Garrett L, Choi NT, Wang Y, Wang Y, Wang C, Wang J, Chan D, Su P, Cui S, Yang Y, Gao B
 タイトル      Mutations in COMP cause familial carpal tunnel syndrome.
 雑誌        Nat Commun 11:3642 (2020)
 DOI:10.1038/s41467-020-17378-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00798"">H00798</a>",家族性手根管症候群,"Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with bilateral symptom that is frequently associated with inherited systemic disorders such as mucopolysaccharidosis, mucolipidosis, amyloidosis, collagen vascular disease or hereditary liability to pressure palsies. The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported.",,"(CTS1) TTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7276"">7276</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20731"">K20731</a>]
 (CTS2) COMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1311"">1311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04659"">K04659</a>]",,,,,,"ICD-11: 8C10.0
 ICD-10: G56.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002349"">D002349</a>
 OMIM: <a href=""https://www.omim.org/entry/115430"">115430</a> <a href=""https://www.omim.org/entry/619161"">619161</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9052822"">9052822</a>
 著者        Vadasz AG, Chance PF, Epstein LG, Lou JS
 タイトル      Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old-case report and review of the literature.
 雑誌        Muscle Nerve 20:376-8 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1097-4598(199703)20:"">10.1002/(SICI)1097-4598(199703)20:</a><a href=""https://doi.org/3<376:"">3<376:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-MUS20>3.0.CO;2-Y"">AID-MUS20>3.0.CO;2-Y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9831348"">9831348</a>
 著者        Stoll C, Maitrot D
 タイトル      Autosomal dominant carpal tunnel syndrome.
 雑誌        Clin Genet 54:345-8 (1998)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.1998.5440414.x"">10.1034/j.1399-0004.1998.5440414.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19756731"">19756731</a>
 著者        Senel S, Ceylaner G, Yuksel D, Erkek N, Karacan C
 タイトル      Familial primary carpal tunnel syndrome with possible skipped generation.
 雑誌        Eur J Pediatr 169:453-5 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00431-009-1055-4"">10.1007/s00431-009-1055-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8309582"">8309582</a> (CTS1)
 著者        Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M
 タイトル      Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
 雑誌        Neurology 44:315-8 (1994)
 DOI:<a href=""https://doi.org/10.1212/WNL.44.2.315"">10.1212/WNL.44.2.315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32686688"">32686688</a> (CTS2)
 著者        Li C, Wang N, Schaffer AA, Liu X, Zhao Z, Elliott G, Garrett L, Choi NT, Wang Y, Wang Y, Wang C, Wang J, Chan D, Su P, Cui S, Yang Y, Gao B
 タイトル      Mutations in COMP cause familial carpal tunnel syndrome.
 雑誌        Nat Commun 11:3642 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-17378-z"">10.1038/s41467-020-17378-z</a>"
H00799,CEDNIK 症候群,,,"CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation.",先天奇形,,SNAP29 [HSA:9342] [KO:K08509],,,,,,"ICD-11: LD27.2
 ICD-10: Q82.8
 MeSH: C537943
 OMIM: 609528","PMID:15968592
 著者        Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H
 タイトル      A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
 雑誌        Am J Hum Genet 77:242-51 (2005)
 DOI:10.1086/432556
 PMID:21073448
 著者        Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E
 タイトル      CEDNIK syndrome results from loss-of-function mutations in SNAP29.
 雑誌        Br J Dermatol 164:610-6 (2011)
 DOI:10.1111/j.1365-2133.2010.10133.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00799"">H00799</a>",CEDNIK 症候群,"CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation.",,"SNAP29 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9342"">9342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08509"">K08509</a>]",,,,,,"ICD-11: LD27.2
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537943"">C537943</a>
 OMIM: <a href=""https://www.omim.org/entry/609528"">609528</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15968592"">15968592</a>
 著者        Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H
 タイトル      A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
 雑誌        Am J Hum Genet 77:242-51 (2005)
 DOI:<a href=""https://doi.org/10.1086/432556"">10.1086/432556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21073448"">21073448</a>
 著者        Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E
 タイトル      CEDNIK syndrome results from loss-of-function mutations in SNAP29.
 雑誌        Br J Dermatol 164:610-6 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.10133.x"">10.1111/j.1365-2133.2010.10133.x</a>"
H00800,"Loeys-Dietz 症候群
 下位グループ    Rienhoff 症候群 [DS:H01385]",,,"Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the absence of craniofacial involvement, respectively. LDS3 is associated with early-onset osteoarthritis and caused by mutation in the SMAD3 gene. LDS4 and LDS5 are caused by mutation in the TGFB2 and TGFB3 gene, respectively.",先天奇形,,"(LDS1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
 (LDS1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
 (LDS3) SMAD3 [HSA:4088] [KO:K23605]
 (LDS4) TGFB2 [HSA:7042] [KO:K13376]
 (LDS5) TGFB3 [HSA:7043] [KO:K13377]
 (LDS6) SMAD2 [HSA:4087] [KO:K04500]",,,,,LDS and Marfan syndrome [DS:H00653] are both genetic disorders of connective tissue and share many features.,"ICD-11: LD28.01
 ICD-10: I71.0
 MeSH: D055947
 OMIM: 609192 608967 610168 610380 613795 614816 615582 619656","PMID:21785848
 著者        Kalra VB, Gilbert JW, Malhotra A
 タイトル      Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.
 雑誌        Pediatr Radiol 41:1495-504 (2011)
 DOI:10.1007/s00247-011-2195-z
 PMID:18544034
 著者        Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
 タイトル      Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
 雑誌        Annu Rev Genomics Hum Genet 9:283-302 (2008)
 DOI:10.1146/annurev.genom.8.080706.092303
 PMID:19883511 (LDS1_2)
 著者        Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M
 タイトル      Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
 雑誌        Orphanet J Rare Dis 4:24 (2009)
 DOI:10.1186/1750-1172-4-24
 PMID:21217753 (LDS3)
 著者        van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collee M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM
 タイトル      Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
 雑誌        Nat Genet 43:121-6 (2011)
 DOI:10.1038/ng.744
 PMID:22772368 (LDS4)
 著者        Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL
 タイトル      Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
 雑誌        Nat Genet 44:922-7 (2012)
 DOI:10.1038/ng.2349
 PMID:23824657 (LDS5)
 著者        Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M
 タイトル      A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 雑誌        Am J Med Genet A 161A:2040-6 (2013)
 DOI:10.1002/ajmg.a.36056
 PMID:29967133 (LDS6)
 著者        Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chenier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B
 タイトル      Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
 雑誌        J Med Genet 56:220-227 (2019)
 DOI:10.1136/jmedgenet-2018-105304","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00800"">H00800</a>","Loeys-Dietz 症候群
 下位グループ    Rienhoff 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01385"">H01385</a>]","Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the absence of craniofacial involvement, respectively. LDS3 is associated with early-onset osteoarthritis and caused by mutation in the SMAD3 gene. LDS4 and LDS5 are caused by mutation in the TGFB2 and TGFB3 gene, respectively.",,"(LDS1A/2A) TGFBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7046"">7046</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04674"">K04674</a>]
 (LDS1B/2B) TGFBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 (LDS3) SMAD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4088"">4088</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23605"">K23605</a>]
 (LDS4) TGFB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7042"">7042</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13376"">K13376</a>]
 (LDS5) TGFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]
 (LDS6) SMAD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4087"">4087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04500"">K04500</a>]",,,,,"LDS and Marfan syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653"">H00653</a>] are both genetic disorders of connective tissue and share many features.","ICD-11: LD28.01
 ICD-10: I71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055947"">D055947</a>
 OMIM: <a href=""https://www.omim.org/entry/609192"">609192</a> <a href=""https://www.omim.org/entry/608967"">608967</a> <a href=""https://www.omim.org/entry/610168"">610168</a> <a href=""https://www.omim.org/entry/610380"">610380</a> <a href=""https://www.omim.org/entry/613795"">613795</a> <a href=""https://www.omim.org/entry/614816"">614816</a> <a href=""https://www.omim.org/entry/615582"">615582</a> <a href=""https://www.omim.org/entry/619656"">619656</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21785848"">21785848</a>
 著者        Kalra VB, Gilbert JW, Malhotra A
 タイトル      Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.
 雑誌        Pediatr Radiol 41:1495-504 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00247-011-2195-z"">10.1007/s00247-011-2195-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18544034"">18544034</a>
 著者        Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
 タイトル      Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
 雑誌        Annu Rev Genomics Hum Genet 9:283-302 (2008)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.8.080706.092303"">10.1146/annurev.genom.8.080706.092303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19883511"">19883511</a> (LDS1_2)
 著者        Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M
 タイトル      Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
 雑誌        Orphanet J Rare Dis 4:24 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-24"">10.1186/1750-1172-4-24</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21217753"">21217753</a> (LDS3)
 著者        van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collee M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM
 タイトル      Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
 雑誌        Nat Genet 43:121-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.744"">10.1038/ng.744</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22772368"">22772368</a> (LDS4)
 著者        Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL
 タイトル      Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
 雑誌        Nat Genet 44:922-7 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2349"">10.1038/ng.2349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23824657"">23824657</a> (LDS5)
 著者        Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M
 タイトル      A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 雑誌        Am J Med Genet A 161A:2040-6 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36056"">10.1002/ajmg.a.36056</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29967133"">29967133</a> (LDS6)
 著者        Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chenier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B
 タイトル      Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
 雑誌        J Med Genet 56:220-227 (2019)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105304"">10.1136/jmedgenet-2018-105304</a>"
H00801,家族性胸部大動脈瘤及び解離,,,"Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.",心血管疾患,,"(AAT3) TGFBR2 [HSA:7048] [KO:K04388]
 (AAT4) MYH11 [HSA:4629] [KO:K10352]
 (AAT5) TGFBR1 [HSA:7046] [KO:K04674]
 (AAT6) ACTA2 [HSA:59] [KO:K12313]
 (AAT7) MYLK [HSA:4638] [KO:K00907]
 (AAT8) PRKG1 [HSA:5592] [KO:K07376]
 (AAT9) MFAP5 [HSA:8076] [KO:K25410]
 (AAT10) LOX [HSA:4015] [KO:K00277]
 (AAT11) FOXE3 [HSA:2301] [KO:K09398]
 (AAT12) THSD4 [HSA:79875] [KO:K23377]",,,,,"Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome are described in H00653, H00800, and H00802, respectively. [DS:H00653] [DS:H00800] [DS:H00802]","ICD-11: BD50.3
 ICD-10: I71.2
 OMIM: 607086 607087 610168 132900 609192 611788 613780 615436 616166 617168 617349 619825","PMID:18544034
 著者        Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
 タイトル      Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
 雑誌        Annu Rev Genomics Hum Genet 9:283-302 (2008)
 DOI:10.1146/annurev.genom.8.080706.092303
 PMID:20301299
 著者        Milewicz DM, Regalado E
 タイトル      Thoracic Aortic Aneurysms and Aortic Dissections
 雑誌        GeneReviews (1993)
 PMID:21163914
 著者        Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM
 タイトル      Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
 雑誌        Circ Cardiovasc Genet 4:36-42 (2011)
 DOI:10.1161/CIRCGENETICS.110.958066
 PMID:11511117
 著者        Erbel R, Alfonso F, Boileau C, Dirsch O, Eber B, Haverich A, Rakowski H, Struyven J, Radegran K, Sechtem U, Taylor J, Zollikofer C, Klein WW, Mulder B, Providencia LA
 タイトル      Diagnosis and management of aortic dissection.
 雑誌        Eur Heart J 22:1642-81 (2001)
 DOI:10.1053/euhj.2001.2782
 PMID:16027248 (TGFBR2)
 著者        Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM
 タイトル      Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
 雑誌        Circulation 112:513-20 (2005)
 DOI:10.1161/CIRCULATIONAHA.105.537340
 PMID:16444274 (MYH11)
 著者        Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X
 タイトル      Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
 雑誌        Nat Genet 38:343-9 (2006)
 DOI:10.1038/ng1721
 PMID:16791849 (TGFBR1)
 著者        Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
 タイトル      Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
 雑誌        Hum Mutat 27:760-9 (2006)
 DOI:10.1002/humu.20353
 PMID:17994018 (ACTA2)
 著者        Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM
 タイトル      Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
 雑誌        Nat Genet 39:1488-93 (2007)
 DOI:10.1038/ng.2007.6
 PMID:21055718 (MYLK)
 著者        Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM
 タイトル      Mutations in myosin light chain kinase cause familial aortic dissections.
 雑誌        Am J Hum Genet 87:701-7 (2010)
 DOI:10.1016/j.ajhg.2010.10.006
 PMID:23910461 (PRKG1)
 著者        Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM
 タイトル      Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
 雑誌        Am J Hum Genet 93:398-404 (2013)
 DOI:10.1016/j.ajhg.2013.06.019
 PMID:25434006 (MFAP5)
 著者        Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C
 タイトル      MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
 雑誌        Am J Hum Genet 95:736-43 (2014)
 DOI:10.1016/j.ajhg.2014.10.018
 PMID:26838787 (LOX)
 著者        Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM
 タイトル      LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
 雑誌        Circ Res 118:928-34 (2016)
 DOI:10.1161/CIRCRESAHA.115.307130
 PMID:26854927 (FOXE3)
 著者        Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM
 タイトル      FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
 雑誌        J Clin Invest 126:948-61 (2016)
 DOI:10.1172/JCI83778
 PMID:32855533 (THSD4)
 著者        Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noe B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M
 タイトル      Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
 雑誌        Genet Med 23:111-122 (2021)
 DOI:10.1038/s41436-020-00947-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00801"">H00801</a>",家族性胸部大動脈瘤及び解離,"Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.",,"(AAT3) TGFBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 (AAT4) MYH11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4629"">4629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]
 (AAT5) TGFBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7046"">7046</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04674"">K04674</a>]
 (AAT6) ACTA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59"">59</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12313"">K12313</a>]
 (AAT7) MYLK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4638"">4638</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00907"">K00907</a>]
 (AAT8) PRKG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5592"">5592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07376"">K07376</a>]
 (AAT9) MFAP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8076"">8076</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25410"">K25410</a>]
 (AAT10) LOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4015"">4015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00277"">K00277</a>]
 (AAT11) FOXE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2301"">2301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]
 (AAT12) THSD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79875"">79875</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23377"">K23377</a>]",,,,,"Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00653,"">H00653,</a> <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00800,"">H00800,</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802,"">H00802,</a> respectively. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653"">H00653</a>] [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00800"">H00800</a>] [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","ICD-11: BD50.3
 ICD-10: I71.2
 OMIM: <a href=""https://www.omim.org/entry/607086"">607086</a> <a href=""https://www.omim.org/entry/607087"">607087</a> <a href=""https://www.omim.org/entry/610168"">610168</a> <a href=""https://www.omim.org/entry/132900"">132900</a> <a href=""https://www.omim.org/entry/609192"">609192</a> <a href=""https://www.omim.org/entry/611788"">611788</a> <a href=""https://www.omim.org/entry/613780"">613780</a> <a href=""https://www.omim.org/entry/615436"">615436</a> <a href=""https://www.omim.org/entry/616166"">616166</a> <a href=""https://www.omim.org/entry/617168"">617168</a> <a href=""https://www.omim.org/entry/617349"">617349</a> <a href=""https://www.omim.org/entry/619825"">619825</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18544034"">18544034</a>
 著者        Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
 タイトル      Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
 雑誌        Annu Rev Genomics Hum Genet 9:283-302 (2008)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.8.080706.092303"">10.1146/annurev.genom.8.080706.092303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301299"">20301299</a>
 著者        Milewicz DM, Regalado E
 タイトル      Thoracic Aortic Aneurysms and Aortic Dissections
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21163914"">21163914</a>
 著者        Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM
 タイトル      Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
 雑誌        Circ Cardiovasc Genet 4:36-42 (2011)
 DOI:<a href=""https://doi.org/10.1161/CIRCGENETICS.110.958066"">10.1161/CIRCGENETICS.110.958066</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11511117"">11511117</a>
 著者        Erbel R, Alfonso F, Boileau C, Dirsch O, Eber B, Haverich A, Rakowski H, Struyven J, Radegran K, Sechtem U, Taylor J, Zollikofer C, Klein WW, Mulder B, Providencia LA
 タイトル      Diagnosis and management of aortic dissection.
 雑誌        Eur Heart J 22:1642-81 (2001)
 DOI:<a href=""https://doi.org/10.1053/euhj.2001.2782"">10.1053/euhj.2001.2782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16027248"">16027248</a> (TGFBR2)
 著者        Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM
 タイトル      Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
 雑誌        Circulation 112:513-20 (2005)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.105.537340"">10.1161/CIRCULATIONAHA.105.537340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16444274"">16444274</a> (MYH11)
 著者        Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X
 タイトル      Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
 雑誌        Nat Genet 38:343-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1721"">10.1038/ng1721</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16791849"">16791849</a> (TGFBR1)
 著者        Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
 タイトル      Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
 雑誌        Hum Mutat 27:760-9 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20353"">10.1002/humu.20353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994018"">17994018</a> (ACTA2)
 著者        Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM
 タイトル      Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
 雑誌        Nat Genet 39:1488-93 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.6"">10.1038/ng.2007.6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21055718"">21055718</a> (MYLK)
 著者        Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM
 タイトル      Mutations in myosin light chain kinase cause familial aortic dissections.
 雑誌        Am J Hum Genet 87:701-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.006"">10.1016/j.ajhg.2010.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23910461"">23910461</a> (PRKG1)
 著者        Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM
 タイトル      Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
 雑誌        Am J Hum Genet 93:398-404 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.019"">10.1016/j.ajhg.2013.06.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25434006"">25434006</a> (MFAP5)
 著者        Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C
 タイトル      MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
 雑誌        Am J Hum Genet 95:736-43 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.018"">10.1016/j.ajhg.2014.10.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26838787"">26838787</a> (LOX)
 著者        Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM
 タイトル      LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
 雑誌        Circ Res 118:928-34 (2016)
 DOI:<a href=""https://doi.org/10.1161/CIRCRESAHA.115.307130"">10.1161/CIRCRESAHA.115.307130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26854927"">26854927</a> (FOXE3)
 著者        Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM
 タイトル      FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
 雑誌        J Clin Invest 126:948-61 (2016)
 DOI:<a href=""https://doi.org/10.1172/JCI83778"">10.1172/JCI83778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32855533"">32855533</a> (THSD4)
 著者        Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noe B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M
 タイトル      Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
 雑誌        Genet Med 23:111-122 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-00947-4"">10.1038/s41436-020-00947-4</a>"
H00802,"エーラス・ダンロス症候群
 下位グループ    EDS 古典型
 EDS 類古典型
 EDS 心臓弁型 [DS:H02241]
 EDS 血管型 [DS:H02242]
 EDS 過可動型
 EDS 多発関節弛緩型 [DS:H02243]
 EDS 皮膚脆弱型 [DS:H02244]
 EDS 後側彎型 [DS:H02245]
 脆弱角膜症候群 [DS:H01902]
 EDS 脊椎異形成型 [DS:H02239]
 EDS 筋拘縮型 [DS:H02246]
 EDS ミオパチー型 [DS:H02247]
 EDS 歯周型 [DS:H02240]",,,"Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).",先天奇形,,"(EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
 (EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
 (EDSCLL) TNXB [HSA:7148] [KO:K06252]
 (EDSCLL2) AEBP1 [HSA:165] [KO:K21392]",,,,,The EDS classification was revised in 2017.,"ICD-11: LD28.1
 ICD-10: Q79.6
 MeSH: D004535
 OMIM: 130000 130010 130020 606408 618000","PMID:28306229
 著者        Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
 タイトル      The 2017 international classification of the Ehlers-Danlos syndromes.
 雑誌        Am J Med Genet C Semin Med Genet 175:8-26 (2017)
 DOI:10.1002/ajmg.c.31552
 PMID:18324963
 著者        Parapia LA, Jackson C
 タイトル      Ehlers-Danlos syndrome--a historical review.
 雑誌        Br J Haematol 141:32-5 (2008)
 DOI:10.1111/j.1365-2141.2008.06994.x
 PMID:15566352
 著者        De Paepe A, Malfait F
 タイトル      Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
 雑誌        Br J Haematol 127:491-500 (2004)
 DOI:10.1111/j.1365-2141.2004.05220.x
 PMID:8923000 (COL5A1)
 著者        Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG
 タイトル      A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
 雑誌        Hum Mol Genet 5:1733-6 (1996)
 DOI:10.1093/hmg/5.11.1733
 PMID:9425231 (COL5A2)
 著者        Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG
 タイトル      Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
 雑誌        Hum Mol Genet 7:249-55 (1998)
 DOI:10.1093/hmg/7.2.249
 PMID:9288108 (TNXB)
 著者        Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J
 タイトル      Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
 雑誌        Nat Genet 17:104-8 (1997)
 DOI:10.1038/ng0997-104
 PMID:29606302 (AEBP1)
 著者        Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS
 タイトル      Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
 雑誌        Am J Hum Genet 102:696-705 (2018)
 DOI:10.1016/j.ajhg.2018.02.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>","エーラス・ダンロス症候群
 下位グループ    EDS 古典型
 EDS 類古典型
 EDS 心臓弁型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02241"">H02241</a>]
 EDS 血管型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02242"">H02242</a>]
 EDS 過可動型
 EDS 多発関節弛緩型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02243"">H02243</a>]
 EDS 皮膚脆弱型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02244"">H02244</a>]
 EDS 後側彎型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02245"">H02245</a>]
 脆弱角膜症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01902"">H01902</a>]
 EDS 脊椎異形成型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02239"">H02239</a>]
 EDS 筋拘縮型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02246"">H02246</a>]
 EDS ミオパチー型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02247"">H02247</a>]
 EDS 歯周型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02240"">H02240</a>]","Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).",,"(EDSCL1) COL5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1289"">1289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (EDSCL2) COL5A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1290"">1290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (EDSCLL) TNXB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7148"">7148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06252"">K06252</a>]
 (EDSCLL2) AEBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:165"">165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21392"">K21392</a>]",,,,,The EDS classification was revised in 2017.,"ICD-11: LD28.1
 ICD-10: Q79.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004535"">D004535</a>
 OMIM: <a href=""https://www.omim.org/entry/130000"">130000</a> <a href=""https://www.omim.org/entry/130010"">130010</a> <a href=""https://www.omim.org/entry/130020"">130020</a> <a href=""https://www.omim.org/entry/606408"">606408</a> <a href=""https://www.omim.org/entry/618000"">618000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28306229"">28306229</a>
 著者        Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
 タイトル      The 2017 international classification of the Ehlers-Danlos syndromes.
 雑誌        Am J Med Genet C Semin Med Genet 175:8-26 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31552"">10.1002/ajmg.c.31552</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18324963"">18324963</a>
 著者        Parapia LA, Jackson C
 タイトル      Ehlers-Danlos syndrome--a historical review.
 雑誌        Br J Haematol 141:32-5 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2008.06994.x"">10.1111/j.1365-2141.2008.06994.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15566352"">15566352</a>
 著者        De Paepe A, Malfait F
 タイトル      Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
 雑誌        Br J Haematol 127:491-500 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2004.05220.x"">10.1111/j.1365-2141.2004.05220.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8923000"">8923000</a> (COL5A1)
 著者        Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG
 タイトル      A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
 雑誌        Hum Mol Genet 5:1733-6 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.11.1733"">10.1093/hmg/5.11.1733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9425231"">9425231</a> (COL5A2)
 著者        Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG
 タイトル      Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
 雑誌        Hum Mol Genet 7:249-55 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.2.249"">10.1093/hmg/7.2.249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9288108"">9288108</a> (TNXB)
 著者        Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J
 タイトル      Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
 雑誌        Nat Genet 17:104-8 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0997-104"">10.1038/ng0997-104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29606302"">29606302</a> (AEBP1)
 著者        Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS
 タイトル      Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
 雑誌        Am J Hum Genet 102:696-705 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.02.018"">10.1016/j.ajhg.2018.02.018</a>"
H00803,SeSAME/EAST 症候群,,,"Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. This disease links to autosomal recessive mutations in KCNJ10, which encodes the potassium channel.",神経系疾患,,KCNJ10 [HSA:3766] [KO:K05003],,,,,,"ICD-11: LD2H.Y
 MeSH: C557674
 OMIM: 612780","PMID:21088294
 著者        Williams DM, Lopes CM, Rosenhouse-Dantsker A, Connelly HL, Matavel A, O-Uchi J, McBeath E, Gray DA
 タイトル      Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
 雑誌        J Am Soc Nephrol 21:2117-29 (2010)
 DOI:10.1681/ASN.2009121227","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00803"">H00803</a>",SeSAME/EAST 症候群,"Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. This disease links to autosomal recessive mutations in KCNJ10, which encodes the potassium channel.",,"KCNJ10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3766"">3766</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05003"">K05003</a>]",,,,,,"ICD-11: LD2H.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C557674"">C557674</a>
 OMIM: <a href=""https://www.omim.org/entry/612780"">612780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21088294"">21088294</a>
 著者        Williams DM, Lopes CM, Rosenhouse-Dantsker A, Connelly HL, Matavel A, O-Uchi J, McBeath E, Gray DA
 タイトル      Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
 雑誌        J Am Soc Nephrol 21:2117-29 (2010)
 DOI:<a href=""https://doi.org/10.1681/ASN.2009121227"">10.1681/ASN.2009121227</a>"
H00804,Multiple cutaneous and uterine leiomyomata,,,"Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary leiomyomatosis and renal cell cancer.",がん,,FH [HSA:2271] [KO:K01679],,,,,,"ICD-11: 2E8Z
 ICD-10: D21.9
 MeSH: C535516
 OMIM: 150800","PMID:12761039
 著者        Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP
 タイトル      Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
 雑誌        Hum Mol Genet 12:1241-52 (2003)
 DOI:10.1093/hmg/ddg148
 PMID:17768033
 著者        Makino T, Nagasaki A, Furuichi M, Matsui K, Watanabe H, Sawamura D, Shimizu H, Shimizu T
 タイトル      Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis.
 雑誌        J Dermatol Sci 48:151-3 (2007)
 DOI:10.1016/j.jdermsci.2007.07.009
 PMID:21051878
 著者        Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B
 タイトル      A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
 雑誌        Dermatology 221:378-80 (2010)
 DOI:10.1159/000321336","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00804"">H00804</a>",Multiple cutaneous and uterine leiomyomata,"Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary leiomyomatosis and renal cell cancer.",,"FH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]",,,,,,"ICD-11: 2E8Z
 ICD-10: D21.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535516"">C535516</a>
 OMIM: <a href=""https://www.omim.org/entry/150800"">150800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12761039"">12761039</a>
 著者        Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP
 タイトル      Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
 雑誌        Hum Mol Genet 12:1241-52 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg148"">10.1093/hmg/ddg148</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17768033"">17768033</a>
 著者        Makino T, Nagasaki A, Furuichi M, Matsui K, Watanabe H, Sawamura D, Shimizu H, Shimizu T
 タイトル      Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis.
 雑誌        J Dermatol Sci 48:151-3 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2007.07.009"">10.1016/j.jdermsci.2007.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21051878"">21051878</a>
 著者        Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B
 タイトル      A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
 雑誌        Dermatology 221:378-80 (2010)
 DOI:<a href=""https://doi.org/10.1159/000321336"">10.1159/000321336</a>"
H00805,"硝子体網膜変性
 下位グループ    スティックラー症候群 [DS:H02072]
 Snowflake 硝子体網膜変性 (SVD) [DS:H02077]
 Wagner 症候群 (WGN) [DS:H02073]
 Knobloch 症候群 (KNO) [DS:H02074]
 S 錐体増強症候群 (ESCS) [DS:H02075]
 常染色体優性硝子体網脈絡膜症 (VRCP) [DS:H02078]",,,"The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration.",神経系疾患,,"(STL1) COL2A1 [HSA:1280] [KO:K19719]
 (STL2) COL11A1 [HSA:1301] [KO:K19721]
 (SVD) KCNJ13 [HSA:3769] [KO:K05006]
 (WGVRP) VCAN [HSA:1462] [KO:K06793]
 (KNO1) COL18A1 [HSA:80781] [KO:K06823]
 (ESCS) NR2E3 [HSA:10002] [KO:K08546]
 (VRCP) BEST1 [HSA:7439] [KO:K13878]",,,,,"STL1 and STL2 are also included in Type II and XI collagenopathies, respectively. [DS:H00520] [DS:H00519]","ICD-11: 9B80
 ICD-10: H35.5
 OMIM: 108300 604841 193230 143200 267750 268100 193220","PMID:18309337
 著者        Edwards AO
 タイトル      Clinical features of the congenital vitreoretinopathies.
 雑誌        Eye (Lond) 22:1233-42 (2008)
 DOI:10.1038/eye.2008.38
 PMID:1677770 (COL2A1)
 著者        Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ
 タイトル      Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
 雑誌        Proc Natl Acad Sci U S A 88:6624-7 (1991)
 DOI:10.1073/pnas.88.15.6624
 PMID:8872475 (COL11A1)
 著者        Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
 タイトル      A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
 雑誌        Hum Mol Genet 5:1339-43 (1996)
 DOI:10.1093/hmg/5.9.1339
 PMID:18179896 (KCNJ13)
 著者        Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
 タイトル      Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
 雑誌        Am J Hum Genet 82:174-80 (2008)
 DOI:10.1016/j.ajhg.2007.08.002
 PMID:16043844 (VCAN)
 著者        Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
 タイトル      Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
 雑誌        Invest Ophthalmol Vis Sci 46:2726-35 (2005)
 DOI:10.1167/iovs.05-0057
 PMID:10942434 (COL18A1)
 著者        Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR
 タイトル      Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
 雑誌        Hum Mol Genet 9:2051-8 (2000)
 DOI:10.1093/hmg/9.13.2051
 PMID:10655056 (NR2E3)
 著者        Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC
 タイトル      Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
 雑誌        Nat Genet 24:127-31 (2000)
 DOI:10.1038/72777
 PMID:15452077 (BEST1)
 著者        Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC
 タイトル      Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
 雑誌        Invest Ophthalmol Vis Sci 45:3683-9 (2004)
 DOI:10.1167/iovs.04-0550","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>","硝子体網膜変性
 下位グループ    スティックラー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02072"">H02072</a>]
 Snowflake 硝子体網膜変性 (SVD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02077"">H02077</a>]
 Wagner 症候群 (WGN) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02073"">H02073</a>]
 Knobloch 症候群 (KNO) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02074"">H02074</a>]
 S 錐体増強症候群 (ESCS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02075"">H02075</a>]
 常染色体優性硝子体網脈絡膜症 (VRCP) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02078"">H02078</a>]","The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration.",,"(STL1) COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]
 (STL2) COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (SVD) KCNJ13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3769"">3769</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05006"">K05006</a>]
 (WGVRP) VCAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1462"">1462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06793"">K06793</a>]
 (KNO1) COL18A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80781"">80781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06823"">K06823</a>]
 (ESCS) NR2E3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10002"">10002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08546"">K08546</a>]
 (VRCP) BEST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7439"">7439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13878"">K13878</a>]",,,,,"STL1 and STL2 are also included in Type II and XI collagenopathies, respectively. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>] [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00519"">H00519</a>]","ICD-11: 9B80
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/108300"">108300</a> <a href=""https://www.omim.org/entry/604841"">604841</a> <a href=""https://www.omim.org/entry/193230"">193230</a> <a href=""https://www.omim.org/entry/143200"">143200</a> <a href=""https://www.omim.org/entry/267750"">267750</a> <a href=""https://www.omim.org/entry/268100"">268100</a> <a href=""https://www.omim.org/entry/193220"">193220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18309337"">18309337</a>
 著者        Edwards AO
 タイトル      Clinical features of the congenital vitreoretinopathies.
 雑誌        Eye (Lond) 22:1233-42 (2008)
 DOI:<a href=""https://doi.org/10.1038/eye.2008.38"">10.1038/eye.2008.38</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1677770"">1677770</a> (COL2A1)
 著者        Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ
 タイトル      Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
 雑誌        Proc Natl Acad Sci U S A 88:6624-7 (1991)
 DOI:<a href=""https://doi.org/10.1073/pnas.88.15.6624"">10.1073/pnas.88.15.6624</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8872475"">8872475</a> (COL11A1)
 著者        Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
 タイトル      A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
 雑誌        Hum Mol Genet 5:1339-43 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.9.1339"">10.1093/hmg/5.9.1339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179896"">18179896</a> (KCNJ13)
 著者        Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
 タイトル      Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
 雑誌        Am J Hum Genet 82:174-80 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.08.002"">10.1016/j.ajhg.2007.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16043844"">16043844</a> (VCAN)
 著者        Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
 タイトル      Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
 雑誌        Invest Ophthalmol Vis Sci 46:2726-35 (2005)
 DOI:<a href=""https://doi.org/10.1167/iovs.05-0057"">10.1167/iovs.05-0057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10942434"">10942434</a> (COL18A1)
 著者        Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR
 タイトル      Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
 雑誌        Hum Mol Genet 9:2051-8 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.13.2051"">10.1093/hmg/9.13.2051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10655056"">10655056</a> (NR2E3)
 著者        Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC
 タイトル      Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
 雑誌        Nat Genet 24:127-31 (2000)
 DOI:<a href=""https://doi.org/10.1038/72777"">10.1038/72777</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15452077"">15452077</a> (BEST1)
 著者        Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC
 タイトル      Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
 雑誌        Invest Ophthalmol Vis Sci 45:3683-9 (2004)
 DOI:<a href=""https://doi.org/10.1167/iovs.04-0550"">10.1167/iovs.04-0550</a>"
H00806,良性家族性新生児けいれん,,,"Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. BFNS are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels.",神経系疾患,,"(BFNS1) KCNQ2 [HSA:3785] [KO:K04927]
 (BFNS2) KCNQ3 [HSA:3786] [KO:K04928]",,,,,,"ICD-11: 8A61.10
 ICD-10: G40.3
 OMIM: 121200 121201","PMID:20196795
 著者        Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
 タイトル      Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
 雑誌        Epilepsia 51:676-85 (2010)
 DOI:10.1111/j.1528-1167.2010.02522.x
 PMID:21395569
 著者        Mulley JC, Heron SE, Dibbens LM
 タイトル      Proposed genetic classification of the ""benign"" familial neonatal and infantile epilepsies.
 雑誌        Epilepsia 52:649-50 (2011)
 DOI:10.1111/j.1528-1167.2010.02953.x
 PMID:20371507
 著者        Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H
 タイトル      Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
 雑誌        Brain 133:1403-14 (2010)
 DOI:10.1093/brain/awq057
 PMID:11572947
 著者        Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK
 タイトル      Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
 雑誌        Proc Natl Acad Sci U S A 98:12272-7 (2001)
 DOI:10.1073/pnas.211431298","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00806"">H00806</a>",良性家族性新生児けいれん,"Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. BFNS are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels.",,"(BFNS1) KCNQ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3785"">3785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04927"">K04927</a>]
 (BFNS2) KCNQ3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3786"">3786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04928"">K04928</a>]",,,,,,"ICD-11: 8A61.10
 ICD-10: G40.3
 OMIM: <a href=""https://www.omim.org/entry/121200"">121200</a> <a href=""https://www.omim.org/entry/121201"">121201</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20196795"">20196795</a>
 著者        Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
 タイトル      Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
 雑誌        Epilepsia 51:676-85 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2010.02522.x"">10.1111/j.1528-1167.2010.02522.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21395569"">21395569</a>
 著者        Mulley JC, Heron SE, Dibbens LM
 タイトル      Proposed genetic classification of the ""benign"" familial neonatal and infantile epilepsies.
 雑誌        Epilepsia 52:649-50 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2010.02953.x"">10.1111/j.1528-1167.2010.02953.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20371507"">20371507</a>
 著者        Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H
 タイトル      Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
 雑誌        Brain 133:1403-14 (2010)
 DOI:<a href=""https://doi.org/10.1093/brain/awq057"">10.1093/brain/awq057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11572947"">11572947</a>
 著者        Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK
 タイトル      Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
 雑誌        Proc Natl Acad Sci U S A 98:12272-7 (2001)
 DOI:<a href=""https://doi.org/10.1073/pnas.211431298"">10.1073/pnas.211431298</a>"
H00807,"夜間前頭葉てんかん
 下位グループ    常染色体優性夜間前頭葉てんかん",,,"Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating from the frontal lobe but also in parts of the insula, suggesting a defect of a broader network. Mutations in CHRNA4, CHRNB2, and CHRNA2, which encodes the alpha4-, beta2-, and alpha2-subunit of neuronal nicotinic acetylcholine receptor, have been reported. These mutations are concentrated in the pore-forming M2 transmembrane segments.",神経系疾患,,"(ENFL1) CHRNA4 [HSA:1137] [KO:K04806]
 (ENFL3) CHRNB2 [HSA:1141] [KO:K04813]
 (ENFL4) CHRNA2 [HSA:1135] [KO:K04804]
 (ENFL5) KCNT1 [HSA:57582] [KO:K04946]",,,,,,"ICD-11: 8A61.4Y
 MeSH: C579932
 OMIM: 600513 605375 610353 615005","PMID:15843070 (description, gene, marker)
 著者        di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F
 タイトル      Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: ""understanding the nicotinic acetylcholine receptor (nAChR)"".
 雑誌        Eur J Paediatr Neurol 9:59-66 (2005)
 DOI:10.1016/j.ejpn.2004.12.006
 PMID:18754913
 著者        Weber YG, Lerche H
 タイトル      Genetic mechanisms in idiopathic epilepsies.
 雑誌        Dev Med Child Neurol 50:648-54 (2008)
 DOI:10.1111/j.1469-8749.2008.03058.x
 PMID:23086396
 著者        Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM
 タイトル      Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
 雑誌        Nat Genet 44:1188-90 (2012)
 DOI:10.1038/ng.2440","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00807"">H00807</a>","夜間前頭葉てんかん
 下位グループ    常染色体優性夜間前頭葉てんかん","Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating from the frontal lobe but also in parts of the insula, suggesting a defect of a broader network. Mutations in CHRNA4, CHRNB2, and CHRNA2, which encodes the alpha4-, beta2-, and alpha2-subunit of neuronal nicotinic acetylcholine receptor, have been reported. These mutations are concentrated in the pore-forming M2 transmembrane segments.",,"(ENFL1) CHRNA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1137"">1137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04806"">K04806</a>]
 (ENFL3) CHRNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1141"">1141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04813"">K04813</a>]
 (ENFL4) CHRNA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1135"">1135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04804"">K04804</a>]
 (ENFL5) KCNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57582"">57582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04946"">K04946</a>]",,,,,,"ICD-11: 8A61.4Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579932"">C579932</a>
 OMIM: <a href=""https://www.omim.org/entry/600513"">600513</a> <a href=""https://www.omim.org/entry/605375"">605375</a> <a href=""https://www.omim.org/entry/610353"">610353</a> <a href=""https://www.omim.org/entry/615005"">615005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15843070"">15843070</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F
 タイトル      Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: ""understanding the nicotinic acetylcholine receptor (nAChR)"".
 雑誌        Eur J Paediatr Neurol 9:59-66 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2004.12.006"">10.1016/j.ejpn.2004.12.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18754913"">18754913</a>
 著者        Weber YG, Lerche H
 タイトル      Genetic mechanisms in idiopathic epilepsies.
 雑誌        Dev Med Child Neurol 50:648-54 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2008.03058.x"">10.1111/j.1469-8749.2008.03058.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23086396"">23086396</a>
 著者        Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM
 タイトル      Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
 雑誌        Nat Genet 44:1188-90 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2440"">10.1038/ng.2440</a>"
H00808,"特発性全般てんかん
 下位グループ    小児欠神てんかん [DS:H02215]
 若年性欠神てんかん [DS:H02216]
 若年性ミオクローヌスてんかん [DS:H02217]
 全般性強直間代発作のみを伴うてんかん",,,"Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.",神経系疾患,,"(EIG6) CACNA1H [HSA:8912] [KO:K04855]
 (EIG8) CASR [HSA:846] [KO:K04612]
 (EIG9) CACNB4 [HSA:785] [KO:K04865]
 (EIG10) GABRD [HSA:2563] [KO:K05184]
 (EIG11) CLCN2 [HSA:1181] [KO:K05011]
 (EIG12) SLC2A1 [HSA:6513] [KO:K07299]
 (EIG13) GABRA1 [HSA:2554] [KO:K05175]
 (EIG14) SLC12A5 [HSA:57468] [KO:K23967]
 (EIG15) RORB [HSA:6096] [KO:K08533]
 (EIG16) KCNMA1 [HSA:3778] [KO:K04936]",,,,,"The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.","ICD-11: 8A61
 ICD-10: G40.3
 MeSH: C562694
 OMIM: 600669 611942 612899 607682 613060 607628 614847 611136 616685 618357 618596","PMID:15101828
 著者        Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF
 タイトル      Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
 雑誌        Epilepsia 45:467-78 (2004)
 DOI:10.1111/j.0013-9580.2004.46803.x
 PMID:18754913
 著者        Weber YG, Lerche H
 タイトル      Genetic mechanisms in idiopathic epilepsies.
 雑誌        Dev Med Child Neurol 50:648-54 (2008)
 DOI:10.1111/j.1469-8749.2008.03058.x
 PMID:15048902 (CACNA1H)
 著者        Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE
 タイトル      Genetic variation of CACNA1H in idiopathic generalized epilepsy.
 雑誌        Ann Neurol 55:595-6 (2004)
 DOI:10.1002/ana.20028
 PMID:18756473 (CASR)
 著者        Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A
 タイトル      An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
 雑誌        Ann Neurol 64:158-67 (2008)
 DOI:10.1002/ana.21428
 PMID:10762541 (CACNB4)
 著者        Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
 タイトル      Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
 雑誌        Am J Hum Genet 66:1531-9 (2000)
 DOI:10.1086/302909
 PMID:15115768 (GABRD)
 著者        Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC
 タイトル      GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
 雑誌        Hum Mol Genet 13:1315-9 (2004)
 DOI:10.1093/hmg/ddh146
 PMID:12612585 (CLCN2)
 著者        Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A
 タイトル      Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
 雑誌        Nat Genet 33:527-32 (2003)
 DOI:10.1038/ng1121
 PMID:23280796 (SLC2A1)
 著者        Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
 タイトル      Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
 雑誌        Ann Neurol 72:807-15 (2012)
 DOI:10.1002/ana.23702
 PMID:21714819 (GABRA1)
 著者        Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P
 タイトル      Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
 雑誌        Eur J Neurosci 34:237-49 (2011)
 DOI:10.1111/j.1460-9568.2011.07767.x
 PMID:24928908 (SLC12A5)
 著者        Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA
 タイトル      Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
 雑誌        EMBO Rep 15:766-74 (2014)
 DOI:10.15252/embr.201438840
 PMID:27352968 (RORB)
 著者        Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Moller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Bena F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P
 タイトル      Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
 雑誌        Eur J Hum Genet 24:1761-1770 (2016)
 DOI:10.1038/ejhg.2016.80
 PMID:29330545 (KCNMA1)
 著者        Li X, Poschmann S, Chen Q, Fazeli W, Oundjian NJ, Snoeijen-Schouwenaars FM, Fricke O, Kamsteeg EJ, Willemsen M, Wang QK
 タイトル      De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity.
 雑誌        Eur J Hum Genet 26:220-229 (2018)
 DOI:10.1038/s41431-017-0073-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00808"">H00808</a>","特発性全般てんかん
 下位グループ    小児欠神てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02215"">H02215</a>]
 若年性欠神てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02216"">H02216</a>]
 若年性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02217"">H02217</a>]
 全般性強直間代発作のみを伴うてんかん","Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.",,"(EIG6) CACNA1H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8912"">8912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04855"">K04855</a>]
 (EIG8) CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]
 (EIG9) CACNB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:785"">785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04865"">K04865</a>]
 (EIG10) GABRD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2563"">2563</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05184"">K05184</a>]
 (EIG11) CLCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1181"">1181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05011"">K05011</a>]
 (EIG12) SLC2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6513"">6513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07299"">K07299</a>]
 (EIG13) GABRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2554"">2554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (EIG14) SLC12A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57468"">57468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23967"">K23967</a>]
 (EIG15) RORB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6096"">6096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08533"">K08533</a>]
 (EIG16) KCNMA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3778"">3778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04936"">K04936</a>]",,,,,"The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.","ICD-11: 8A61
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562694"">C562694</a>
 OMIM: <a href=""https://www.omim.org/entry/600669"">600669</a> <a href=""https://www.omim.org/entry/611942"">611942</a> <a href=""https://www.omim.org/entry/612899"">612899</a> <a href=""https://www.omim.org/entry/607682"">607682</a> <a href=""https://www.omim.org/entry/613060"">613060</a> <a href=""https://www.omim.org/entry/607628"">607628</a> <a href=""https://www.omim.org/entry/614847"">614847</a> <a href=""https://www.omim.org/entry/611136"">611136</a> <a href=""https://www.omim.org/entry/616685"">616685</a> <a href=""https://www.omim.org/entry/618357"">618357</a> <a href=""https://www.omim.org/entry/618596"">618596</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15101828"">15101828</a>
 著者        Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF
 タイトル      Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
 雑誌        Epilepsia 45:467-78 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0013-9580.2004.46803.x"">10.1111/j.0013-9580.2004.46803.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18754913"">18754913</a>
 著者        Weber YG, Lerche H
 タイトル      Genetic mechanisms in idiopathic epilepsies.
 雑誌        Dev Med Child Neurol 50:648-54 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2008.03058.x"">10.1111/j.1469-8749.2008.03058.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15048902"">15048902</a> (CACNA1H)
 著者        Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE
 タイトル      Genetic variation of CACNA1H in idiopathic generalized epilepsy.
 雑誌        Ann Neurol 55:595-6 (2004)
 DOI:<a href=""https://doi.org/10.1002/ana.20028"">10.1002/ana.20028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18756473"">18756473</a> (CASR)
 著者        Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A
 タイトル      An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
 雑誌        Ann Neurol 64:158-67 (2008)
 DOI:<a href=""https://doi.org/10.1002/ana.21428"">10.1002/ana.21428</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10762541"">10762541</a> (CACNB4)
 著者        Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
 タイトル      Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
 雑誌        Am J Hum Genet 66:1531-9 (2000)
 DOI:<a href=""https://doi.org/10.1086/302909"">10.1086/302909</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15115768"">15115768</a> (GABRD)
 著者        Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC
 タイトル      GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
 雑誌        Hum Mol Genet 13:1315-9 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh146"">10.1093/hmg/ddh146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12612585"">12612585</a> (CLCN2)
 著者        Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A
 タイトル      Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
 雑誌        Nat Genet 33:527-32 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1121"">10.1038/ng1121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23280796"">23280796</a> (SLC2A1)
 著者        Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
 タイトル      Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
 雑誌        Ann Neurol 72:807-15 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23702"">10.1002/ana.23702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21714819"">21714819</a> (GABRA1)
 著者        Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P
 タイトル      Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
 雑誌        Eur J Neurosci 34:237-49 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9568.2011.07767.x"">10.1111/j.1460-9568.2011.07767.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24928908"">24928908</a> (SLC12A5)
 著者        Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA
 タイトル      Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
 雑誌        EMBO Rep 15:766-74 (2014)
 DOI:<a href=""https://doi.org/10.15252/embr.201438840"">10.15252/embr.201438840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27352968"">27352968</a> (RORB)
 著者        Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Moller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Bena F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P
 タイトル      Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
 雑誌        Eur J Hum Genet 24:1761-1770 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.80"">10.1038/ejhg.2016.80</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29330545"">29330545</a> (KCNMA1)
 著者        Li X, Poschmann S, Chen Q, Fazeli W, Oundjian NJ, Snoeijen-Schouwenaars FM, Fricke O, Kamsteeg EJ, Willemsen M, Wang QK
 タイトル      De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity.
 雑誌        Eur J Hum Genet 26:220-229 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0073-3"">10.1038/s41431-017-0073-3</a>"
H00809,"家族性側頭葉てんかん
 下位グループ    常染色体優性遺伝性外側側頭葉てんかん
 常染色体優性遺伝で聴覚症状を伴う部分てんかん",,,"Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of ADTLE/ADPEAF pedigrees. In addition, de novo LGI1 mutations are found in about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically similar to the majority of patients with ADLTE/ADPEAF but have no family history.",神経系疾患,,"(ETL1) LGI1 [HSA:9211] [KO:K25428]
 (ETL5) CPA6 [HSA:57094] [KO:K08782]
 (ETL7) RELN [HSA:5649] [KO:K06249]
 (ETL8) GAL [HSA:51083] [KO:K05244]",,,,,,"ICD-11: 8A61.3Y
 ICD-10: G40.1
 MeSH: C537297
 OMIM: 600512 614417 616436 616461","PMID:21444903
 著者        Striano P, Busolin G, Santulli L, Leonardi E, Coppola A, Vitiello L, Rigon L, Michelucci R, Tosatto SC, Striano S, Nobile C
 タイトル      Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.
 雑誌        Neurology 76:1173-6 (2011)
 DOI:10.1212/WNL.0b013e318212ab2e
 PMID:19469848
 著者        Michelucci R, Pasini E, Nobile C
 タイトル      Lateral temporal lobe epilepsies: clinical and genetic features.
 雑誌        Epilepsia 50 Suppl 5:52-4 (2009)
 DOI:10.1111/j.1528-1167.2009.02122.x
 PMID:19191227
 著者        Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P
 タイトル      LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
 雑誌        Hum Mutat 30:530-6 (2009)
 DOI:10.1002/humu.20925
 PMID:21922598
 著者        Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
 タイトル      Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
 雑誌        Hum Mutat 33:124-35 (2012)
 DOI:10.1002/humu.21613
 PMID:26046367
 著者        Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C
 タイトル      Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
 雑誌        Am J Hum Genet 96:992-1000 (2015)
 DOI:10.1016/j.ajhg.2015.04.020
 PMID:25691535
 著者        Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel U, Antonarakis SE
 タイトル      Galanin pathogenic mutations in temporal lobe epilepsy.
 雑誌        Hum Mol Genet 24:3082-91 (2015)
 DOI:10.1093/hmg/ddv060","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00809"">H00809</a>","家族性側頭葉てんかん
 下位グループ    常染色体優性遺伝性外側側頭葉てんかん
 常染色体優性遺伝で聴覚症状を伴う部分てんかん","Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of ADTLE/ADPEAF pedigrees. In addition, de novo LGI1 mutations are found in about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically similar to the majority of patients with ADLTE/ADPEAF but have no family history.",,"(ETL1) LGI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9211"">9211</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25428"">K25428</a>]
 (ETL5) CPA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57094"">57094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08782"">K08782</a>]
 (ETL7) RELN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5649"">5649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06249"">K06249</a>]
 (ETL8) GAL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51083"">51083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05244"">K05244</a>]",,,,,,"ICD-11: 8A61.3Y
 ICD-10: G40.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537297"">C537297</a>
 OMIM: <a href=""https://www.omim.org/entry/600512"">600512</a> <a href=""https://www.omim.org/entry/614417"">614417</a> <a href=""https://www.omim.org/entry/616436"">616436</a> <a href=""https://www.omim.org/entry/616461"">616461</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21444903"">21444903</a>
 著者        Striano P, Busolin G, Santulli L, Leonardi E, Coppola A, Vitiello L, Rigon L, Michelucci R, Tosatto SC, Striano S, Nobile C
 タイトル      Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.
 雑誌        Neurology 76:1173-6 (2011)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e318212ab2e"">10.1212/WNL.0b013e318212ab2e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19469848"">19469848</a>
 著者        Michelucci R, Pasini E, Nobile C
 タイトル      Lateral temporal lobe epilepsies: clinical and genetic features.
 雑誌        Epilepsia 50 Suppl 5:52-4 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2009.02122.x"">10.1111/j.1528-1167.2009.02122.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19191227"">19191227</a>
 著者        Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P
 タイトル      LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
 雑誌        Hum Mutat 30:530-6 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20925"">10.1002/humu.20925</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21922598"">21922598</a>
 著者        Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
 タイトル      Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
 雑誌        Hum Mutat 33:124-35 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21613"">10.1002/humu.21613</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26046367"">26046367</a>
 著者        Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C
 タイトル      Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
 雑誌        Am J Hum Genet 96:992-1000 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.020"">10.1016/j.ajhg.2015.04.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25691535"">25691535</a>
 著者        Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel U, Antonarakis SE
 タイトル      Galanin pathogenic mutations in temporal lobe epilepsy.
 雑誌        Hum Mol Genet 24:3082-91 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv060"">10.1093/hmg/ddv060</a>"
H00810,"進行性ミオクローヌスてんかん
 下位グループ    ラフォラ病 [DS:H01994]
 ウンベルリヒト・ルンドボルグ病 [DS:H01995]
 神経セロイドリポフスチン症 [DS:H00149]
 1型シアリドーシス [DS:H00142]
 歯状核赤核淡蒼球ルイ体萎縮症 [DS:H00060]
 3型ゴーシェ病 [DS:H00126]
 赤色ぼろ線維・ミオクローヌスてんかん症候群 [DS:H01356]",,,"Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).",神経系疾患,,"(EPM1) CSTB [HSA:1476] [KO:K13907]
 (EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
 (EPM2A) EPM2A [HSA:7957] [KO:K14165]
 (EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
 (EPM3) KCTD7 [HSA:154881] [KO:K21917]
 (EPM4) SCARB2 [HSA:950] [KO:K12384]
 (EPM5) PRICKLE2 [HSA:166336] [KO:K04511]
 (EPM6) GOSR2 [HSA:9570] [KO:K08496]
 (EPM7) KCNC1 [HSA:3746] [KO:K04887]
 (EPM8) CERS1 [HSA:10715] [KO:K04710]
 (EPM9) LMNB2 [HSA:84823] [KO:K07611]
 (EPM10) PRDM8 [HSA:56978] [KO:K20797]
 (EPM11) SEMA6B [HSA:10501] [KO:K06842]
 (EPM12) SLC7A6OS [HSA:84138]",,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: D020191
 OMIM: 254800 612437 254780 611726 254900 614018 616187 616230 616540 616640 618876 619191","PMID:20739785
 著者        Satishchandra P, Sinha S
 タイトル      Progressive myoclonic epilepsy.
 雑誌        Neurol India 58:514-22 (2010)
 DOI:10.4103/0028-3886.68660
 PMID:19469843
 著者        Ramachandran N, Girard JM, Turnbull J, Minassian BA
 タイトル      The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
 雑誌        Epilepsia 50 Suppl 5:29-36 (2009)
 DOI:10.1111/j.1528-1167.2009.02117.x
 PMID:18976727
 著者        Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI
 タイトル      A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
 雑誌        Am J Hum Genet 83:572-81 (2008)
 DOI:10.1016/j.ajhg.2008.10.003
 PMID:21710140
 著者        Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ
 タイトル      Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
 雑誌        Mol Neurobiol 44:111-21 (2011)
 DOI:10.1007/s12035-011-8194-0
 PMID:20301774
 著者        Fox MH, Bassuk AG
 タイトル      PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
 雑誌        GeneReviews (1993)
 PMID:21276947
 著者        Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG
 タイトル      Mutations in prickle orthologs cause seizures in flies, mice, and humans.
 雑誌        Am J Hum Genet 88:138-49 (2011)
 DOI:10.1016/j.ajhg.2010.12.012
 PMID:21549339
 著者        Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF
 タイトル      A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
 雑誌        Am J Hum Genet 88:657-63 (2011)
 DOI:10.1016/j.ajhg.2011.04.011
 PMID:25401298
 著者        Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Moller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
 タイトル      A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
 雑誌        Nat Genet 47:39-46 (2015)
 DOI:10.1038/ng.3144
 PMID:19243074
 著者        Ferlazzo E, Italiano D, An I, Calarese T, Laguitton V, Bramanti P, Di Bella P, Genton P
 タイトル      Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
 雑誌        Mov Disord 24:1016-22 (2009)
 DOI:10.1002/mds.22489
 PMID:25954030
 著者        Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS
 タイトル      Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
 雑誌        Hum Mol Genet 24:4483-90 (2015)
 DOI:10.1093/hmg/ddv171
 PMID:22961547
 著者        Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA
 タイトル      Early-onset Lafora body disease.
 雑誌        Brain 135:2684-98 (2012)
 DOI:10.1093/brain/aws205
 PMID:32169168
 著者        Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N
 タイトル      De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
 雑誌        Am J Hum Genet 106:549-558 (2020)
 DOI:10.1016/j.ajhg.2020.02.011
 PMID:33085104
 著者        Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G
 タイトル      Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
 雑誌        Ann Neurol 89:402-407 (2021)
 DOI:10.1002/ana.25941","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>","進行性ミオクローヌスてんかん
 下位グループ    ラフォラ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01994"">H01994</a>]
 ウンベルリヒト・ルンドボルグ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01995"">H01995</a>]
 神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 1型シアリドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00142"">H00142</a>]
 歯状核赤核淡蒼球ルイ体萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00060"">H00060</a>]
 3型ゴーシェ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00126"">H00126</a>]
 赤色ぼろ線維・ミオクローヌスてんかん症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01356"">H01356</a>]","Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).",,"(EPM1) CSTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1476"">1476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13907"">K13907</a>]
 (EPM1B) PRICKLE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:144165"">144165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04511"">K04511</a>]
 (EPM2A) EPM2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7957"">7957</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14165"">K14165</a>]
 (EPM2B) NHLRC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:378884"">378884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10602"">K10602</a>]
 (EPM3) KCTD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154881"">154881</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21917"">K21917</a>]
 (EPM4) SCARB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:950"">950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12384"">K12384</a>]
 (EPM5) PRICKLE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:166336"">166336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04511"">K04511</a>]
 (EPM6) GOSR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9570"">9570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08496"">K08496</a>]
 (EPM7) KCNC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3746"">3746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04887"">K04887</a>]
 (EPM8) CERS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10715"">10715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04710"">K04710</a>]
 (EPM9) LMNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84823"">84823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07611"">K07611</a>]
 (EPM10) PRDM8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56978"">56978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20797"">K20797</a>]
 (EPM11) SEMA6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10501"">10501</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06842"">K06842</a>]
 (EPM12) SLC7A6OS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84138"">84138</a>]",,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020191"">D020191</a>
 OMIM: <a href=""https://www.omim.org/entry/254800"">254800</a> <a href=""https://www.omim.org/entry/612437"">612437</a> <a href=""https://www.omim.org/entry/254780"">254780</a> <a href=""https://www.omim.org/entry/611726"">611726</a> <a href=""https://www.omim.org/entry/254900"">254900</a> <a href=""https://www.omim.org/entry/614018"">614018</a> <a href=""https://www.omim.org/entry/616187"">616187</a> <a href=""https://www.omim.org/entry/616230"">616230</a> <a href=""https://www.omim.org/entry/616540"">616540</a> <a href=""https://www.omim.org/entry/616640"">616640</a> <a href=""https://www.omim.org/entry/618876"">618876</a> <a href=""https://www.omim.org/entry/619191"">619191</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20739785"">20739785</a>
 著者        Satishchandra P, Sinha S
 タイトル      Progressive myoclonic epilepsy.
 雑誌        Neurol India 58:514-22 (2010)
 DOI:<a href=""https://doi.org/10.4103/0028-3886.68660"">10.4103/0028-3886.68660</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19469843"">19469843</a>
 著者        Ramachandran N, Girard JM, Turnbull J, Minassian BA
 タイトル      The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
 雑誌        Epilepsia 50 Suppl 5:29-36 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2009.02117.x"">10.1111/j.1528-1167.2009.02117.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18976727"">18976727</a>
 著者        Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI
 タイトル      A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
 雑誌        Am J Hum Genet 83:572-81 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.003"">10.1016/j.ajhg.2008.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21710140"">21710140</a>
 著者        Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ
 タイトル      Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
 雑誌        Mol Neurobiol 44:111-21 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12035-011-8194-0"">10.1007/s12035-011-8194-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301774"">20301774</a>
 著者        Fox MH, Bassuk AG
 タイトル      PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21276947"">21276947</a>
 著者        Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG
 タイトル      Mutations in prickle orthologs cause seizures in flies, mice, and humans.
 雑誌        Am J Hum Genet 88:138-49 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.012"">10.1016/j.ajhg.2010.12.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21549339"">21549339</a>
 著者        Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF
 タイトル      A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
 雑誌        Am J Hum Genet 88:657-63 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.011"">10.1016/j.ajhg.2011.04.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25401298"">25401298</a>
 著者        Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Moller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
 タイトル      A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
 雑誌        Nat Genet 47:39-46 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3144"">10.1038/ng.3144</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19243074"">19243074</a>
 著者        Ferlazzo E, Italiano D, An I, Calarese T, Laguitton V, Bramanti P, Di Bella P, Genton P
 タイトル      Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
 雑誌        Mov Disord 24:1016-22 (2009)
 DOI:<a href=""https://doi.org/10.1002/mds.22489"">10.1002/mds.22489</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25954030"">25954030</a>
 著者        Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS
 タイトル      Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
 雑誌        Hum Mol Genet 24:4483-90 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv171"">10.1093/hmg/ddv171</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22961547"">22961547</a>
 著者        Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA
 タイトル      Early-onset Lafora body disease.
 雑誌        Brain 135:2684-98 (2012)
 DOI:<a href=""https://doi.org/10.1093/brain/aws205"">10.1093/brain/aws205</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32169168"">32169168</a>
 著者        Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N
 タイトル      De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
 雑誌        Am J Hum Genet 106:549-558 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.011"">10.1016/j.ajhg.2020.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33085104"">33085104</a>
 著者        Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G
 タイトル      Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
 雑誌        Ann Neurol 89:402-407 (2021)
 DOI:<a href=""https://doi.org/10.1002/ana.25941"">10.1002/ana.25941</a>"
H00811,"遠位関節拘縮症
 下位グループ    フリーマン・シェルドン症候群
 シェルドン・ホール症候群
 開口不全・偽屈曲指症候群 [DS:H00872]",,,"Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers.",先天奇形,,"(DA1, DA2B) TPM2 [HSA:7169] [KO:K10374]
 (DA1B) MYBPC1 [HSA:4604] [KO:K12557]
 (DA1C) MYLPF [HSA:29895] [KO:K12758]
 (DA2B) TNNI2 [HSA:7136] [KO:K12043]
 (DA2B) TNNT3 [HSA:7140] [KO:K12046]
 (DA2A, DA2B, DA8) MYH3 [HSA:4621] [KO:K24220]
 (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
 (DA5D) ECEL1 [HSA:9427] [KO:K09610]
 (DA7) MYH8 [HSA:4626] [KO:K24220]
 (DA9) FBN2 [HSA:2201] [KO:K23342]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q87.0 Q74.3
 MeSH: D001176
 OMIM: 108120 614335 193700 619110 601680 114300 108145 615065 158300 121050","PMID:17103435
 著者        Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M
 タイトル      A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
 雑誌        Am J Med Genet A 140:2797-801 (2006)
 DOI:10.1002/ajmg.a.31528
 PMID:15930940
 著者        Beals RK
 タイトル      The distal arthrogryposes: a new classification of peripheral contractures.
 雑誌        Clin Orthop Relat Res 203-10 (2005)
 PMID:12592607 (TPM2)
 著者        Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M
 タイトル      Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
 雑誌        Am J Hum Genet 72:681-90 (2003)
 DOI:10.1086/368294
 PMID:20045868 (MYBPC1)
 著者        Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB
 タイトル      Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
 雑誌        Hum Mol Genet 19:1165-73 (2010)
 DOI:10.1093/hmg/ddp587
 PMID:32707087 (MYLPF)
 著者        Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML, Amacher SL, Bamshad MJ
 タイトル      Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
 雑誌        Am J Hum Genet 107:293-310 (2020)
 DOI:10.1016/j.ajhg.2020.06.014
 PMID:19309503 (TNNI2, TNNT3, MYH3)
 著者        Toydemir RM, Bamshad MJ
 タイトル      Sheldon-Hall syndrome.
 雑誌        Orphanet J Rare Dis 4:11 (2009)
 DOI:10.1186/1750-1172-4-11
 PMID:24726473 (PIEZO2)
 著者        McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
 雑誌        Am J Hum Genet 94:734-44 (2014)
 DOI:10.1016/j.ajhg.2014.03.015
 PMID:23261301 (ECEL1)
 著者        McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Mutations in ECEL1 cause distal arthrogryposis type 5D.
 雑誌        Am J Hum Genet 92:150-6 (2013)
 DOI:10.1016/j.ajhg.2012.11.014
 PMID:7493032 (FBN2)
 著者        Putnam EA, Zhang H, Ramirez F, Milewicz DM
 タイトル      Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
 雑誌        Nat Genet 11:456-8 (1995)
 DOI:10.1038/ng1295-456","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00811"">H00811</a>","遠位関節拘縮症
 下位グループ    フリーマン・シェルドン症候群
 シェルドン・ホール症候群
 開口不全・偽屈曲指症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00872"">H00872</a>]","Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers.",,"(DA1, DA2B) TPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7169"">7169</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10374"">K10374</a>]
 (DA1B) MYBPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4604"">4604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12557"">K12557</a>]
 (DA1C) MYLPF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29895"">29895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12758"">K12758</a>]
 (DA2B) TNNI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7136"">7136</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12043"">K12043</a>]
 (DA2B) TNNT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7140"">7140</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12046"">K12046</a>]
 (DA2A, DA2B, DA8) MYH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4621"">4621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24220"">K24220</a>]
 (DA3, DA5) PIEZO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63895"">63895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22128"">K22128</a>]
 (DA5D) ECEL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9427"">9427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09610"">K09610</a>]
 (DA7) MYH8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4626"">4626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24220"">K24220</a>]
 (DA9) FBN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2201"">2201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23342"">K23342</a>]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q87.0 Q74.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001176"">D001176</a>
 OMIM: <a href=""https://www.omim.org/entry/108120"">108120</a> <a href=""https://www.omim.org/entry/614335"">614335</a> <a href=""https://www.omim.org/entry/193700"">193700</a> <a href=""https://www.omim.org/entry/619110"">619110</a> <a href=""https://www.omim.org/entry/601680"">601680</a> <a href=""https://www.omim.org/entry/114300"">114300</a> <a href=""https://www.omim.org/entry/108145"">108145</a> <a href=""https://www.omim.org/entry/615065"">615065</a> <a href=""https://www.omim.org/entry/158300"">158300</a> <a href=""https://www.omim.org/entry/121050"">121050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17103435"">17103435</a>
 著者        Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M
 タイトル      A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
 雑誌        Am J Med Genet A 140:2797-801 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31528"">10.1002/ajmg.a.31528</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15930940"">15930940</a>
 著者        Beals RK
 タイトル      The distal arthrogryposes: a new classification of peripheral contractures.
 雑誌        Clin Orthop Relat Res 203-10 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12592607"">12592607</a> (TPM2)
 著者        Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M
 タイトル      Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
 雑誌        Am J Hum Genet 72:681-90 (2003)
 DOI:<a href=""https://doi.org/10.1086/368294"">10.1086/368294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20045868"">20045868</a> (MYBPC1)
 著者        Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB
 タイトル      Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
 雑誌        Hum Mol Genet 19:1165-73 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp587"">10.1093/hmg/ddp587</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32707087"">32707087</a> (MYLPF)
 著者        Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML, Amacher SL, Bamshad MJ
 タイトル      Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
 雑誌        Am J Hum Genet 107:293-310 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.014"">10.1016/j.ajhg.2020.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19309503"">19309503</a> (TNNI2, <a href=""https://pubmed.ncbi.nlm.nih.gov/TNNT3,"">TNNT3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MYH3)"">MYH3)</a>
 著者        Toydemir RM, Bamshad MJ
 タイトル      Sheldon-Hall syndrome.
 雑誌        Orphanet J Rare Dis 4:11 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-11"">10.1186/1750-1172-4-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24726473"">24726473</a> (PIEZO2)
 著者        McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
 雑誌        Am J Hum Genet 94:734-44 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.03.015"">10.1016/j.ajhg.2014.03.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23261301"">23261301</a> (ECEL1)
 著者        McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Mutations in ECEL1 cause distal arthrogryposis type 5D.
 雑誌        Am J Hum Genet 92:150-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.11.014"">10.1016/j.ajhg.2012.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493032"">7493032</a> (FBN2)
 著者        Putnam EA, Zhang H, Ramirez F, Milewicz DM
 タイトル      Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
 雑誌        Nat Genet 11:456-8 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-456"">10.1038/ng1295-456</a>"
H00812,トリコモナス症,,,"Trichomoniasis is the most common curable sexually transmitted infection caused by a motile flagellate protozoan parasite. Women with trichomoniasis have a wide spectrum of symptoms, ranging from a relatively asymptomatic state in one-third of cases to severe irritation and inflammation. Several complications associated with adverse pregnancy outcomes have been reported.",感染症,,,"Trichomonas vaginalis [GN:tva]
 Trichomonas foetus",,,"メトロニダゾール [DR:D00409]
 チニダゾール [DR:D01426]",,"ICD-11: 1A92
 ICD-10: A59
 MeSH: D014245
 MedlinePlus: 001331","PMID:21440359
 著者        Harp DF, Chowdhury I
 タイトル      Trichomoniasis: evaluation to execution.
 雑誌        Eur J Obstet Gynecol Reprod Biol 157:3-9 (2011)
 DOI:10.1016/j.ejogrb.2011.02.024
 著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:18192787
 著者        Johnston VJ, Mabey DC
 タイトル      Global epidemiology and control of Trichomonas vaginalis.
 雑誌        Curr Opin Infect Dis 21:56-64 (2008)
 DOI:10.1097/QCO.0b013e3282f3d999","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00812"">H00812</a>",トリコモナス症,"Trichomoniasis is the most common curable sexually transmitted infection caused by a motile flagellate protozoan parasite. Women with trichomoniasis have a wide spectrum of symptoms, ranging from a relatively asymptomatic state in one-third of cases to severe irritation and inflammation. Several complications associated with adverse pregnancy outcomes have been reported.",,,"Trichomonas vaginalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tva"">tva</a>]
 Trichomonas foetus",,,"メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]
 チニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01426"">D01426</a>]",,"ICD-11: 1A92
 ICD-10: A59
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014245"">D014245</a>
 MedlinePlus: 001331","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21440359"">21440359</a>
 著者        Harp DF, Chowdhury I
 タイトル      Trichomoniasis: evaluation to execution.
 雑誌        Eur J Obstet Gynecol Reprod Biol 157:3-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ejogrb.2011.02.024"">10.1016/j.ejogrb.2011.02.024</a>
 著者        Papadakis MA, Tierney LM (ed).
 タイトル      [Current Medical Diagnosis & Treatment 2004, Forty-Third Edition] (In Japanese)
 雑誌        Nikkei Business Publications, Inc. (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18192787"">18192787</a>
 著者        Johnston VJ, Mabey DC
 タイトル      Global epidemiology and control of Trichomonas vaginalis.
 雑誌        Curr Opin Infect Dis 21:56-64 (2008)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3282f3d999"">10.1097/QCO.0b013e3282f3d999</a>"
H00813,LOC 症候群,,,"Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane.",先天奇形,,LAMA3 [HSA:3909] [KO:K06240],,,,,,"ICD-11: EC3Z
 ICD-10: Q81.8
 MeSH: C537032
 OMIM: 245660","PMID:20438980
 著者        Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, Wood M, Gooi J, Morrell AJ, Newton Bishop JA, Marr JE
 タイトル      Laryngo-onycho-cutaneous syndrome.
 雑誌        Ophthalmology 117:1056-1056.e2 (2010)
 DOI:10.1016/j.ophtha.2009.11.019
 PMID:17542886
 著者        Kim CC, Liang MG, Pfendner E, Kimonis VE
 タイトル      What syndrome is this? Laryngo-onycho-cutaneous syndrome.
 雑誌        Pediatr Dermatol 24:306-8 (2007)
 DOI:10.1111/j.1525-1470.2007.00408.x
 PMID:8185366
 著者        Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD
 タイトル      Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.
 雑誌        Arch Dis Child 70:319-26 (1994)
 DOI:10.1136/adc.70.4.319","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00813"">H00813</a>",LOC 症候群,"Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane.",,"LAMA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3909"">3909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06240"">K06240</a>]",,,,,,"ICD-11: EC3Z
 ICD-10: Q81.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537032"">C537032</a>
 OMIM: <a href=""https://www.omim.org/entry/245660"">245660</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20438980"">20438980</a>
 著者        Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, Wood M, Gooi J, Morrell AJ, Newton Bishop JA, Marr JE
 タイトル      Laryngo-onycho-cutaneous syndrome.
 雑誌        Ophthalmology 117:1056-1056.e2 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2009.11.019"">10.1016/j.ophtha.2009.11.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17542886"">17542886</a>
 著者        Kim CC, Liang MG, Pfendner E, Kimonis VE
 タイトル      What syndrome is this? Laryngo-onycho-cutaneous syndrome.
 雑誌        Pediatr Dermatol 24:306-8 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2007.00408.x"">10.1111/j.1525-1470.2007.00408.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8185366"">8185366</a>
 著者        Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD
 タイトル      Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.
 雑誌        Arch Dis Child 70:319-26 (1994)
 DOI:<a href=""https://doi.org/10.1136/adc.70.4.319"">10.1136/adc.70.4.319</a>"
H00814,"卵黄状黄斑ジストロフィー
 下位グループ    ベスト病/ 若年性卵黄状黄斑ジストロフィー (VMD2)
 成人発症卵黄状黄斑ジストロフィ
 常染色体劣性ベストロフィノパチー (ARB)
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.",神経系疾患,,"(VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878]
 (VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343]
 (VMD4) IMPG1 [HSA:3617] [KO:K19016]
 (VMD5) IMPG2 [HSA:50939] [KO:K19017]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D057826
 OMIM: 153840 153700 608161 616151 616152 611809","PMID:9662395 (BEST1)
 著者        Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C
 タイトル      Identification of the gene responsible for Best macular dystrophy.
 雑誌        Nat Genet 19:241-7 (1998)
 DOI:10.1038/915
 PMID:8485576 (PRPH2)
 著者        Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.
 タイトル      Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
 雑誌        Nat Genet 3:213-8 (1993)
 DOI:10.1038/ng0393-213
 PMID:23993198 (IMPG1)
 著者        Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP
 タイトル      Mutations in IMPG1 cause vitelliform macular dystrophies.
 雑誌        Am J Hum Genet 93:571-8 (2013)
 DOI:10.1016/j.ajhg.2013.07.018
 PMID:25085631 (IMPG2)
 著者        Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP
 タイトル      Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
 雑誌        Ophthalmology 121:2406-14 (2014)
 DOI:10.1016/j.ophtha.2014.06.028","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00814"">H00814</a>","卵黄状黄斑ジストロフィー
 下位グループ    ベスト病/ 若年性卵黄状黄斑ジストロフィー (VMD2)
 成人発症卵黄状黄斑ジストロフィ
 常染色体劣性ベストロフィノパチー (ARB)
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.",,"(VMD2/ AVMD/ ARB) BEST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7439"">7439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13878"">K13878</a>]
 (VMD3/ AVMD) PRPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5961"">5961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17343"">K17343</a>]
 (VMD4) IMPG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3617"">3617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19016"">K19016</a>]
 (VMD5) IMPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50939"">50939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19017"">K19017</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057826"">D057826</a>
 OMIM: <a href=""https://www.omim.org/entry/153840"">153840</a> <a href=""https://www.omim.org/entry/153700"">153700</a> <a href=""https://www.omim.org/entry/608161"">608161</a> <a href=""https://www.omim.org/entry/616151"">616151</a> <a href=""https://www.omim.org/entry/616152"">616152</a> <a href=""https://www.omim.org/entry/611809"">611809</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9662395"">9662395</a> (BEST1)
 著者        Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C
 タイトル      Identification of the gene responsible for Best macular dystrophy.
 雑誌        Nat Genet 19:241-7 (1998)
 DOI:<a href=""https://doi.org/10.1038/915"">10.1038/915</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8485576"">8485576</a> (PRPH2)
 著者        Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.
 タイトル      Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
 雑誌        Nat Genet 3:213-8 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng0393-213"">10.1038/ng0393-213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23993198"">23993198</a> (IMPG1)
 著者        Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP
 タイトル      Mutations in IMPG1 cause vitelliform macular dystrophies.
 雑誌        Am J Hum Genet 93:571-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.018"">10.1016/j.ajhg.2013.07.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25085631"">25085631</a> (IMPG2)
 著者        Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP
 タイトル      Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
 雑誌        Ophthalmology 121:2406-14 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2014.06.028"">10.1016/j.ophtha.2014.06.028</a>"
H00815,H 症候群,,,"The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism, short stature, and hyperglycemia. Anomalies such as hallux valgus and fixed flexion contractures of the toe and finger joints are additional clinical findings.",その他の疾患,,SLC29A3 [HSA:55315] [KO:K15014],,,,,,"ICD-11: LD27.Y
 ICD-10: D76.3
 MeSH: C538322
 OMIM: 602782","PMID:18410979
 著者        Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A
 タイトル      The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
 雑誌        J Am Acad Dermatol 59:79-85 (2008)
 DOI:10.1016/j.jaad.2008.03.021
 PMID:18940313
 著者        Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A
 タイトル      The H syndrome is caused by mutations in the nucleoside transporter hENT3.
 雑誌        Am J Hum Genet 83:529-34 (2008)
 DOI:10.1016/j.ajhg.2008.09.013
 PMID:20199539
 著者        Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A
 タイトル      H syndrome: novel and recurrent mutations in SLC29A3.
 雑誌        Br J Dermatol 162:1132-4 (2010)
 DOI:10.1111/j.1365-2133.2010.09653.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00815"">H00815</a>",H 症候群,"The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism, short stature, and hyperglycemia. Anomalies such as hallux valgus and fixed flexion contractures of the toe and finger joints are additional clinical findings.",,"SLC29A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55315"">55315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15014"">K15014</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: D76.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538322"">C538322</a>
 OMIM: <a href=""https://www.omim.org/entry/602782"">602782</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18410979"">18410979</a>
 著者        Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A
 タイトル      The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
 雑誌        J Am Acad Dermatol 59:79-85 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2008.03.021"">10.1016/j.jaad.2008.03.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18940313"">18940313</a>
 著者        Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A
 タイトル      The H syndrome is caused by mutations in the nucleoside transporter hENT3.
 雑誌        Am J Hum Genet 83:529-34 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.09.013"">10.1016/j.ajhg.2008.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20199539"">20199539</a>
 著者        Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A
 タイトル      H syndrome: novel and recurrent mutations in SLC29A3.
 雑誌        Br J Dermatol 162:1132-4 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.09653.x"">10.1111/j.1365-2133.2010.09653.x</a>"
H00816,末梢神経障害を伴う脳梁欠損,,,"Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial agenesis of the corpus callosum. ACCPN is found in French Canadian population and could be resulted from a single founder mutation.",神経系疾患,,SLC12A6 [HSA:9990] [KO:K14427],,,,,,"ICD-11: LD20.Y
 ICD-10: G60.0
 MeSH: C536446
 OMIM: 218000","PMID:12368912
 著者        Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
 タイトル      The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
 雑誌        Nat Genet 32:384-92 (2002)
 DOI:10.1038/ng1002
 PMID:8554065
 著者        Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA
 タイトル      The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
 雑誌        Am J Hum Genet 58:28-34 (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00816"">H00816</a>",末梢神経障害を伴う脳梁欠損,"Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial agenesis of the corpus callosum. ACCPN is found in French Canadian population and could be resulted from a single founder mutation.",,"SLC12A6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9990"">9990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14427"">K14427</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536446"">C536446</a>
 OMIM: <a href=""https://www.omim.org/entry/218000"">218000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12368912"">12368912</a>
 著者        Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
 タイトル      The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
 雑誌        Nat Genet 32:384-92 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1002"">10.1038/ng1002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8554065"">8554065</a>
 著者        Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA
 タイトル      The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
 雑誌        Am J Hum Genet 58:28-34 (1996)"
H00817,鰓・眼・顔面症候群,,,Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease.,先天奇形,,TFAP2A [HSA:7020] [KO:K09176],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q18.8
 MeSH: D019280
 OMIM: 113620","PMID:21634087
 著者        Lin AE, Milunsky JM
 タイトル      Branchiooculofacial Syndrome
 雑誌        GeneReviews (1993)
 PMID:10906521
 著者        Raveh E, Papsin BC, Forte V
 タイトル      Branchio-oculo-facial syndrome.
 雑誌        Int J Pediatr Otorhinolaryngol 53:149-56 (2000)
 DOI:10.1016/S0165-5876(00)00310-4
 PMID:3321995
 著者        Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
 タイトル      New autosomal dominant branchio-oculo-facial syndrome.
 雑誌        Am J Med Genet 27:943-51 (1987)
 DOI:10.1002/ajmg.1320270422","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00817"">H00817</a>",鰓・眼・顔面症候群,Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease.,,"TFAP2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7020"">7020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09176"">K09176</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q18.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019280"">D019280</a>
 OMIM: <a href=""https://www.omim.org/entry/113620"">113620</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21634087"">21634087</a>
 著者        Lin AE, Milunsky JM
 タイトル      Branchiooculofacial Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10906521"">10906521</a>
 著者        Raveh E, Papsin BC, Forte V
 タイトル      Branchio-oculo-facial syndrome.
 雑誌        Int J Pediatr Otorhinolaryngol 53:149-56 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0165-5876(00)00310-4"">10.1016/S0165-5876(00)00310-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3321995"">3321995</a>
 著者        Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
 タイトル      New autosomal dominant branchio-oculo-facial syndrome.
 雑誌        Am J Med Genet 27:943-51 (1987)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320270422"">10.1002/ajmg.1320270422</a>"
H00818,Birt-Hogg-Dube 症候群,,,"Birt-Hogg-Dube syndrome is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with multiple white papules in the midface. The disease is caused by mutations in the FLCN gene coding for folliculin.",その他の疾患,,FLCN [HSA:201163] [KO:K09594],,,,,,"ICD-11: LD27.5
 MeSH: D058249
 OMIM: 135150","PMID:19959076
 著者        Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjold M, Hansen TV, Solly J, Maher ER
 タイトル      Birt-Hogg-Dube syndrome: diagnosis and management.
 雑誌        Lancet Oncol 10:1199-206 (2009)
 DOI:10.1016/S1470-2045(09)70188-3
 PMID:21071978
 著者        Maher ER
 タイトル      Genetics of familial renal cancers.
 雑誌        Nephron Exp Nephrol 118:e21-6 (2011)
 DOI:10.1159/000320892
 PMID:20484339
 著者        Morrison PJ, Donnelly DE, Atkinson AB, Maxwell AP
 タイトル      Advances in the genetics of familial renal cancer.
 雑誌        Oncologist 15:532-8 (2010)
 DOI:10.1634/theoncologist.2010-0023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00818"">H00818</a>",Birt-Hogg-Dube 症候群,"Birt-Hogg-Dube syndrome is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with multiple white papules in the midface. The disease is caused by mutations in the FLCN gene coding for folliculin.",,"FLCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201163"">201163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09594"">K09594</a>]",,,,,,"ICD-11: LD27.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058249"">D058249</a>
 OMIM: <a href=""https://www.omim.org/entry/135150"">135150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19959076"">19959076</a>
 著者        Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjold M, Hansen TV, Solly J, Maher ER
 タイトル      Birt-Hogg-Dube syndrome: diagnosis and management.
 雑誌        Lancet Oncol 10:1199-206 (2009)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(09)70188-3"">10.1016/S1470-2045(09)70188-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21071978"">21071978</a>
 著者        Maher ER
 タイトル      Genetics of familial renal cancers.
 雑誌        Nephron Exp Nephrol 118:e21-6 (2011)
 DOI:<a href=""https://doi.org/10.1159/000320892"">10.1159/000320892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20484339"">20484339</a>
 著者        Morrison PJ, Donnelly DE, Atkinson AB, Maxwell AP
 タイトル      Advances in the genetics of familial renal cancer.
 雑誌        Oncologist 15:532-8 (2010)
 DOI:<a href=""https://doi.org/10.1634/theoncologist.2010-0023"">10.1634/theoncologist.2010-0023</a>"
H00819,"シュタルガルト病
 上位グループ    家族性斑点網膜症 [DS:H00825]
 黄斑ジストロフィー [DS:H01770]",,,"Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3.",神経系疾患,,"(STGD1) ABCA4 [HSA:24] [KO:K05644]
 (STGD1) CNGB3 [HSA:54714] [KO:K04953]
 (STGD3) ELOVL4 [HSA:6785] [KO:K10249]
 (STGD4) PROM1 [HSA:8842] [KO:K06532]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C535804 C535805 C535521
 OMIM: 248200 600110 603786","PMID:12789571
 著者        Koenekoop RK
 タイトル      The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
 雑誌        Ophthalmic Genet 24:75-80 (2003)
 DOI:10.1076/opge.24.2.75.13996
 PMID:19352439
 著者        Xi Q, Li L, Traboulsi EI, Wang QK
 タイトル      Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
 雑誌        Mol Vis 15:638-45 (2009)
 PMID:20393116
 著者        Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL
 タイトル      The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 51:4771-80 (2010)
 DOI:10.1167/iovs.09-4561","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00819"">H00819</a>","シュタルガルト病
 上位グループ    家族性斑点網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00825"">H00825</a>]
 黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3.",,"(STGD1) ABCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24"">24</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05644"">K05644</a>]
 (STGD1) CNGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54714"">54714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04953"">K04953</a>]
 (STGD3) ELOVL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6785"">6785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10249"">K10249</a>]
 (STGD4) PROM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8842"">8842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06532"">K06532</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535804"">C535804</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535805"">C535805</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535521"">C535521</a>
 OMIM: <a href=""https://www.omim.org/entry/248200"">248200</a> <a href=""https://www.omim.org/entry/600110"">600110</a> <a href=""https://www.omim.org/entry/603786"">603786</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12789571"">12789571</a>
 著者        Koenekoop RK
 タイトル      The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
 雑誌        Ophthalmic Genet 24:75-80 (2003)
 DOI:<a href=""https://doi.org/10.1076/opge.24.2.75.13996"">10.1076/opge.24.2.75.13996</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19352439"">19352439</a>
 著者        Xi Q, Li L, Traboulsi EI, Wang QK
 タイトル      Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
 雑誌        Mol Vis 15:638-45 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20393116"">20393116</a>
 著者        Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL
 タイトル      The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 51:4771-80 (2010)
 DOI:<a href=""https://doi.org/10.1167/iovs.09-4561"">10.1167/iovs.09-4561</a>"
H00820,"Bjornstad 症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria.,先天性代謝異常症,,BCS1L [HSA:617] [KO:K08900],,,,,,"ICD-11: EC21.1
 MeSH: C537633
 OMIM: 262000","PMID:10694305
 著者        Selvaag E
 タイトル      Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature.
 雑誌        Eur J Dermatol 10:91-7 (2000)
 PMID:11807445
 著者        Richards KA, Mancini AJ
 タイトル      Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
 雑誌        J Am Acad Dermatol 46:301-3 (2002)
 DOI:10.1067/mjd.2002.107969
 PMID:9545407
 著者        Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG
 タイトル      The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
 雑誌        Am J Hum Genet 62:1107-12 (1998)
 DOI:10.1086/301837
 PMID:17314340
 著者        Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE
 タイトル      Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome.
 雑誌        N Engl J Med 356:809-19 (2007)
 DOI:10.1056/NEJMoa055262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00820"">H00820</a>","Bjornstad 症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria.,,"BCS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:617"">617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08900"">K08900</a>]",,,,,,"ICD-11: EC21.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537633"">C537633</a>
 OMIM: <a href=""https://www.omim.org/entry/262000"">262000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10694305"">10694305</a>
 著者        Selvaag E
 タイトル      Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature.
 雑誌        Eur J Dermatol 10:91-7 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11807445"">11807445</a>
 著者        Richards KA, Mancini AJ
 タイトル      Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
 雑誌        J Am Acad Dermatol 46:301-3 (2002)
 DOI:<a href=""https://doi.org/10.1067/mjd.2002.107969"">10.1067/mjd.2002.107969</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9545407"">9545407</a>
 著者        Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG
 タイトル      The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
 雑誌        Am J Hum Genet 62:1107-12 (1998)
 DOI:<a href=""https://doi.org/10.1086/301837"">10.1086/301837</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17314340"">17314340</a>
 著者        Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE
 タイトル      Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome.
 雑誌        N Engl J Med 356:809-19 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa055262"">10.1056/NEJMoa055262</a>"
H00821,加齢黄斑変性,,,"Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. In AMD, there are two phenotypes, atrophic/ dry and neovascular/ wet. The former is characterized by the geographic atrophy due to death of retinal pigment epithelium, and the latter is usually characterized by the abnormal growth of new blood vessels under the macula, which causes severe loss of vision. While wet AMD can be treated by the inhibition of vascular endothelial growth factor or photodynamic therapy, so far there are no available treatments for dry AMD.",神経系疾患,,"(ARMD1) HMCN1 [HSA:83872] [KO:K17341]
 (ARMD1) CFHR1 [HSA:3078] [KO:K23815]
 (ARMD1) CFHR3 [HSA:10878] [KO:K23815]
 (ARMD2) ABCA4 [HSA:24] [KO:K05644]
 (ARMD3) FBLN5 [HSA:10516] [KO:K17340]
 (ARMD4) CFH [HSA:3075] [KO:K04004]
 (ARMD5) ERCC6 [HSA:2074] [KO:K10841]
 (ARMD6) RAX2 [HSA:84839] [KO:K09333]
 (ARMD7) HTRA1 [HSA:5654] [KO:K08784]
 (ARMD8) ARMS2 [HSA:387715] [KO:K25179]
 (ARMD9) C3 [HSA:718] [KO:K03990]
 (ARMD10) TLR4 [HSA:7099] [KO:K10160]
 (ARMD11) CST3 [HSA:1471] [KO:K13899]
 (ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
 (ARMD13) CFI [HSA:3426] [KO:K01333]
 (ARMD14) C2 [HSA:717] [KO:K01332]
 (ARMD14) CFB [HSA:629] [KO:K01335]
 (ARMD15) C9 [HSA:735] [KO:K04000]",,,,"アフリベルセプト [DR:D09574]
 ベルテポルフィン [DR:D01162]
 ラニビズマブ [DR:D05697]
 ブロルシズマブ [DR:D11083]
 ファリシマブ [DR:D11516]",A haplotype carrying deletion of the complement factor H-related genes CFHR1 and CFHR3 is also associated with reduced risk of ARMD.,"ICD-11: 9B75.0
 ICD-10: H35.3
 MeSH: D008268
 OMIM: 603075 153800 608895 610698 613761 613757 610149 613778 611378 611488 611953 613784 615439 615489 615591","PMID:18097986
 著者        Montezuma SR, Sobrin L, Seddon JM
 タイトル      Review of genetics in age related macular degeneration.
 雑誌        Semin Ophthalmol 22:229-40 (2007)
 DOI:10.1080/08820530701745140
 PMID:17636773
 著者        Virgili G, Bini A
 タイトル      Laser photocoagulation for neovascular age-related macular degeneration.
 雑誌        Cochrane Database Syst Rev CD004763 (2007)
 DOI:10.1002/14651858.CD004763.pub2
 PMID:14570714 (HMCN1)
 著者        Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS
 タイトル      Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
 雑誌        Hum Mol Genet 12:3315-23 (2003)
 DOI:10.1093/hmg/ddg348
 PMID:16998489 (CFHR1 CFHR3, reduced risk)
 著者        Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U
 タイトル      A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
 雑誌        Nat Genet 38:1173-7 (2006)
 DOI:10.1038/ng1890
 PMID:9295268 (ABCA4)
 著者        Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M
 タイトル      Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
 雑誌        Science 277:1805-7 (1997)
 DOI:10.1126/science.277.5333.1805
 PMID:15269314 (FBLN5)
 著者        Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC
 タイトル      Missense variations in the fibulin 5 gene and age-related macular degeneration.
 雑誌        N Engl J Med 351:346-53 (2004)
 DOI:10.1056/NEJMoa040833
 PMID:15761122 (CFH)
 著者        Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J
 タイトル      Complement factor H polymorphism in age-related macular degeneration.
 雑誌        Science 308:385-9 (2005)
 DOI:10.1126/science.1109557
 PMID:16754848 (ERCC6)
 著者        Tuo J, Ning B, Bojanowski CM, Lin ZN, Ross RJ, Reed GF, Shen D, Jiao X, Zhou M, Chew EY, Kadlubar FF, Chan CC
 タイトル      Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
 雑誌        Proc Natl Acad Sci U S A 103:9256-61 (2006)
 DOI:10.1073/pnas.0603485103
 PMID:15028672 (RAX2)
 著者        Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ
 タイトル      QRX, a novel homeobox gene, modulates photoreceptor gene expression.
 雑誌        Hum Mol Genet 13:1025-40 (2004)
 DOI:10.1093/hmg/ddh117
 PMID:17053108 (HTRA1)
 著者        Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J
 タイトル      HTRA1 promoter polymorphism in wet age-related macular degeneration.
 雑誌        Science 314:989-92 (2006)
 DOI:10.1126/science.1133807
 PMID:16174643 (ARMS2)
 著者        Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH
 タイトル      Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
 雑誌        Hum Mol Genet 14:3227-36 (2005)
 DOI:10.1093/hmg/ddi353
 PMID:17634448 (C3)
 著者        Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT
 タイトル      Complement C3 variant and the risk of age-related macular degeneration.
 雑誌        N Engl J Med 357:553-61 (2007)
 DOI:10.1056/NEJMoa072618
 PMID:15829498 (TLR4)
 著者        Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A
 タイトル      Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
 雑誌        Hum Mol Genet 14:1449-55 (2005)
 DOI:10.1093/hmg/ddi154
 PMID:11815350 (CST3)
 著者        Zurdel J, Finckh U, Menzer G, Nitsch RM, Richard G
 タイトル      CST3 genotype associated with exudative age related macular degeneration.
 雑誌        Br J Ophthalmol 86:214-9 (2002)
 DOI:10.1136/bjo.86.2.214
 PMID:15208270 (CX3CR1)
 著者        Tuo J, Smith BC, Bojanowski CM, Meleth AD, Gery I, Csaky KG, Chew EY, Chan CC
 タイトル      The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration.
 雑誌        FASEB J 18:1297-9 (2004)
 DOI:10.1096/fj.04-1862fje
 PMID:23685748 (CFI)
 著者        van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI
 タイトル      A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
 雑誌        Nat Genet 45:813-7 (2013)
 DOI:10.1038/ng.2640
 PMID:16518403 (C2 CFB)
 著者        Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R
 タイトル      Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
 雑誌        Nat Genet 38:458-62 (2006)
 DOI:10.1038/ng1750
 PMID:24036952 (C9)
 著者        Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S
 タイトル      Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
 雑誌        Nat Genet 45:1366-70 (2013)
 DOI:10.1038/ng.2741","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00821"">H00821</a>",加齢黄斑変性,"Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. In AMD, there are two phenotypes, atrophic/ dry and neovascular/ wet. The former is characterized by the geographic atrophy due to death of retinal pigment epithelium, and the latter is usually characterized by the abnormal growth of new blood vessels under the macula, which causes severe loss of vision. While wet AMD can be treated by the inhibition of vascular endothelial growth factor or photodynamic therapy, so far there are no available treatments for dry AMD.",,"(ARMD1) HMCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83872"">83872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17341"">K17341</a>]
 (ARMD1) CFHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3078"">3078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23815"">K23815</a>]
 (ARMD1) CFHR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10878"">10878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23815"">K23815</a>]
 (ARMD2) ABCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24"">24</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05644"">K05644</a>]
 (ARMD3) FBLN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10516"">10516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17340"">K17340</a>]
 (ARMD4) CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 (ARMD5) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (ARMD6) RAX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84839"">84839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09333"">K09333</a>]
 (ARMD7) HTRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5654"">5654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08784"">K08784</a>]
 (ARMD8) ARMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387715"">387715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25179"">K25179</a>]
 (ARMD9) C3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:718"">718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03990"">K03990</a>]
 (ARMD10) TLR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7099"">7099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10160"">K10160</a>]
 (ARMD11) CST3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1471"">1471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13899"">K13899</a>]
 (ARMD12) CX3CR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1524"">1524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04192"">K04192</a>]
 (ARMD13) CFI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3426"">3426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01333"">K01333</a>]
 (ARMD14) C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:717"">717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01332"">K01332</a>]
 (ARMD14) CFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:629"">629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01335"">K01335</a>]
 (ARMD15) C9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:735"">735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04000"">K04000</a>]",,,,"アフリベルセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09574"">D09574</a>]
 ベルテポルフィン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01162"">D01162</a>]
 ラニビズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05697"">D05697</a>]
 ブロルシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11083"">D11083</a>]
 ファリシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11516"">D11516</a>]",A haplotype carrying deletion of the complement factor H-related genes CFHR1 and CFHR3 is also associated with reduced risk of ARMD.,"ICD-11: 9B75.0
 ICD-10: H35.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008268"">D008268</a>
 OMIM: <a href=""https://www.omim.org/entry/603075"">603075</a> <a href=""https://www.omim.org/entry/153800"">153800</a> <a href=""https://www.omim.org/entry/608895"">608895</a> <a href=""https://www.omim.org/entry/610698"">610698</a> <a href=""https://www.omim.org/entry/613761"">613761</a> <a href=""https://www.omim.org/entry/613757"">613757</a> <a href=""https://www.omim.org/entry/610149"">610149</a> <a href=""https://www.omim.org/entry/613778"">613778</a> <a href=""https://www.omim.org/entry/611378"">611378</a> <a href=""https://www.omim.org/entry/611488"">611488</a> <a href=""https://www.omim.org/entry/611953"">611953</a> <a href=""https://www.omim.org/entry/613784"">613784</a> <a href=""https://www.omim.org/entry/615439"">615439</a> <a href=""https://www.omim.org/entry/615489"">615489</a> <a href=""https://www.omim.org/entry/615591"">615591</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18097986"">18097986</a>
 著者        Montezuma SR, Sobrin L, Seddon JM
 タイトル      Review of genetics in age related macular degeneration.
 雑誌        Semin Ophthalmol 22:229-40 (2007)
 DOI:<a href=""https://doi.org/10.1080/08820530701745140"">10.1080/08820530701745140</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17636773"">17636773</a>
 著者        Virgili G, Bini A
 タイトル      Laser photocoagulation for neovascular age-related macular degeneration.
 雑誌        Cochrane Database Syst Rev CD004763 (2007)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD004763.pub2"">10.1002/14651858.CD004763.pub2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14570714"">14570714</a> (HMCN1)
 著者        Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS
 タイトル      Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
 雑誌        Hum Mol Genet 12:3315-23 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg348"">10.1093/hmg/ddg348</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16998489"">16998489</a> (CFHR1 <a href=""https://pubmed.ncbi.nlm.nih.gov/CFHR3,"">CFHR3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/reduced"">reduced</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/risk)"">risk)</a>
 著者        Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U
 タイトル      A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
 雑誌        Nat Genet 38:1173-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1890"">10.1038/ng1890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9295268"">9295268</a> (ABCA4)
 著者        Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M
 タイトル      Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
 雑誌        Science 277:1805-7 (1997)
 DOI:<a href=""https://doi.org/10.1126/science.277.5333.1805"">10.1126/science.277.5333.1805</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15269314"">15269314</a> (FBLN5)
 著者        Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC
 タイトル      Missense variations in the fibulin 5 gene and age-related macular degeneration.
 雑誌        N Engl J Med 351:346-53 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa040833"">10.1056/NEJMoa040833</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15761122"">15761122</a> (CFH)
 著者        Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J
 タイトル      Complement factor H polymorphism in age-related macular degeneration.
 雑誌        Science 308:385-9 (2005)
 DOI:<a href=""https://doi.org/10.1126/science.1109557"">10.1126/science.1109557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16754848"">16754848</a> (ERCC6)
 著者        Tuo J, Ning B, Bojanowski CM, Lin ZN, Ross RJ, Reed GF, Shen D, Jiao X, Zhou M, Chew EY, Kadlubar FF, Chan CC
 タイトル      Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
 雑誌        Proc Natl Acad Sci U S A 103:9256-61 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603485103"">10.1073/pnas.0603485103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15028672"">15028672</a> (RAX2)
 著者        Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ
 タイトル      QRX, a novel homeobox gene, modulates photoreceptor gene expression.
 雑誌        Hum Mol Genet 13:1025-40 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh117"">10.1093/hmg/ddh117</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17053108"">17053108</a> (HTRA1)
 著者        Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J
 タイトル      HTRA1 promoter polymorphism in wet age-related macular degeneration.
 雑誌        Science 314:989-92 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1133807"">10.1126/science.1133807</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16174643"">16174643</a> (ARMS2)
 著者        Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH
 タイトル      Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
 雑誌        Hum Mol Genet 14:3227-36 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi353"">10.1093/hmg/ddi353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17634448"">17634448</a> (C3)
 著者        Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT
 タイトル      Complement C3 variant and the risk of age-related macular degeneration.
 雑誌        N Engl J Med 357:553-61 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa072618"">10.1056/NEJMoa072618</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15829498"">15829498</a> (TLR4)
 著者        Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A
 タイトル      Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
 雑誌        Hum Mol Genet 14:1449-55 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi154"">10.1093/hmg/ddi154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11815350"">11815350</a> (CST3)
 著者        Zurdel J, Finckh U, Menzer G, Nitsch RM, Richard G
 タイトル      CST3 genotype associated with exudative age related macular degeneration.
 雑誌        Br J Ophthalmol 86:214-9 (2002)
 DOI:<a href=""https://doi.org/10.1136/bjo.86.2.214"">10.1136/bjo.86.2.214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15208270"">15208270</a> (CX3CR1)
 著者        Tuo J, Smith BC, Bojanowski CM, Meleth AD, Gery I, Csaky KG, Chew EY, Chan CC
 タイトル      The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration.
 雑誌        FASEB J 18:1297-9 (2004)
 DOI:<a href=""https://doi.org/10.1096/fj.04-1862fje"">10.1096/fj.04-1862fje</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23685748"">23685748</a> (CFI)
 著者        van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI
 タイトル      A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
 雑誌        Nat Genet 45:813-7 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2640"">10.1038/ng.2640</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16518403"">16518403</a> (C2 <a href=""https://pubmed.ncbi.nlm.nih.gov/CFB)"">CFB)</a>
 著者        Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R
 タイトル      Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
 雑誌        Nat Genet 38:458-62 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1750"">10.1038/ng1750</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24036952"">24036952</a> (C9)
 著者        Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S
 タイトル      Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
 雑誌        Nat Genet 45:1366-70 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2741"">10.1038/ng.2741</a>"
H00822,腎低形成および腎欠損,,,"Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHDA with various severity.",先天奇形,,"(RHDA1) ITGA8 [HSA:8516] [KO:K06584]
 (RHDA2) FGF20 [HSA:26281] [KO:K04358]
 (RHDA3) GREB1L [HSA:80000]",,,,,,"ICD-11: LB30.00
 ICD-10: Q60.1
 MeSH: C536482 C563261
 OMIM: 191830 615721 617805","PMID:15888565
 著者        Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS
 タイトル      De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
 雑誌        J Am Soc Nephrol 16:2141-9 (2005)
 DOI:10.1681/ASN.2004090776
 PMID:16731295
 著者        Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S
 タイトル      Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
 雑誌        Am J Kidney Dis 47:1004-12 (2006)
 DOI:10.1053/j.ajkd.2006.02.177
 PMID:24439109
 著者        Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
 タイトル      Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
 雑誌        Am J Hum Genet 94:288-94 (2014)
 DOI:10.1016/j.ajhg.2013.12.017
 PMID:22698282
 著者        Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
 タイトル      FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
 雑誌        Dev Cell 22:1191-207 (2012)
 DOI:10.1016/j.devcel.2012.04.018
 PMID:29100091
 著者        De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschke P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C
 タイトル      Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
 雑誌        Am J Hum Genet 101:803-814 (2017)
 DOI:10.1016/j.ajhg.2017.09.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00822"">H00822</a>",腎低形成および腎欠損,"Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHDA with various severity.",,"(RHDA1) ITGA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8516"">8516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06584"">K06584</a>]
 (RHDA2) FGF20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26281"">26281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]
 (RHDA3) GREB1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80000"">80000</a>]",,,,,,"ICD-11: LB30.00
 ICD-10: Q60.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536482"">C536482</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563261"">C563261</a>
 OMIM: <a href=""https://www.omim.org/entry/191830"">191830</a> <a href=""https://www.omim.org/entry/615721"">615721</a> <a href=""https://www.omim.org/entry/617805"">617805</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15888565"">15888565</a>
 著者        Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS
 タイトル      De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
 雑誌        J Am Soc Nephrol 16:2141-9 (2005)
 DOI:<a href=""https://doi.org/10.1681/ASN.2004090776"">10.1681/ASN.2004090776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16731295"">16731295</a>
 著者        Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S
 タイトル      Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
 雑誌        Am J Kidney Dis 47:1004-12 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.ajkd.2006.02.177"">10.1053/j.ajkd.2006.02.177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24439109"">24439109</a>
 著者        Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
 タイトル      Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
 雑誌        Am J Hum Genet 94:288-94 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.017"">10.1016/j.ajhg.2013.12.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22698282"">22698282</a>
 著者        Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
 タイトル      FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
 雑誌        Dev Cell 22:1191-207 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.devcel.2012.04.018"">10.1016/j.devcel.2012.04.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100091"">29100091</a>
 著者        De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschke P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C
 タイトル      Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
 雑誌        Am J Hum Genet 101:803-814 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.026"">10.1016/j.ajhg.2017.09.026</a>"
H00823,ABCD 症候群,,,"ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.",その他の疾患,,EDNRB [HSA:1910] [KO:K04198],,,,,ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A.,"ICD-11: LD2H.Y
 MeSH: C535334
 OMIM: 600501","PMID:11891690
 著者        Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
 タイトル      ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
 雑誌        Am J Med Genet 108:223-5 (2002)
 DOI:10.1002/ajmg.10172
 PMID:7778600
 著者        Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M
 タイトル      Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
 雑誌        Am J Med Genet 56:322-6 (1995)
 DOI:10.1002/ajmg.1320560322","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00823"">H00823</a>",ABCD 症候群,"ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.",,"EDNRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1910"">1910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04198"">K04198</a>]",,,,,ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A.,"ICD-11: LD2H.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535334"">C535334</a>
 OMIM: <a href=""https://www.omim.org/entry/600501"">600501</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11891690"">11891690</a>
 著者        Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
 タイトル      ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
 雑誌        Am J Med Genet 108:223-5 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10172"">10.1002/ajmg.10172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7778600"">7778600</a>
 著者        Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M
 タイトル      Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
 雑誌        Am J Med Genet 56:322-6 (1995)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320560322"">10.1002/ajmg.1320560322</a>"
H00824,関節と動脈の石灰化,,,Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E encoding CD73 that converts AMP to adenosine.,循環器系疾患,,NT5E [HSA:4907] [KO:K19970],,,,,,"ICD-11: BD52.Y
 MeSH: C565891
 OMIM: 211800","PMID:21288095
 著者        St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M
 タイトル      NT5E mutations and arterial calcifications.
 雑誌        N Engl J Med 364:432-42 (2011)
 DOI:10.1056/NEJMoa0912923","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00824"">H00824</a>",関節と動脈の石灰化,Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E encoding CD73 that converts AMP to adenosine.,,"NT5E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4907"">4907</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19970"">K19970</a>]",,,,,,"ICD-11: BD52.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565891"">C565891</a>
 OMIM: <a href=""https://www.omim.org/entry/211800"">211800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21288095"">21288095</a>
 著者        St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M
 タイトル      NT5E mutations and arterial calcifications.
 雑誌        N Engl J Med 364:432-42 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0912923"">10.1056/NEJMoa0912923</a>"
H00825,"家族性斑点網膜症
 下位グループ    Doyne honeycomb 網膜ジストロフィ [DS:H02110]
 Basal laminar drusen [DS:H02108]
 白点眼底 [DS:H00819]
 白点網膜炎
 クリスタリン網膜症 [DS:H02107]",,,"The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secundary retinal flecks due to metabolic disorders.",神経系疾患,,"(DHRD) EFEMP1 [HSA:2202] [KO:K18262]
 (BLD) CFH [HSA:3075] [KO:K04004]
 (FA) RDH5 [HSA:5959] [KO:K00061]
 (RPA) RLBP1 [HSA:6017] [KO:K19625]
 (RPA) RHO [HSA:6010] [KO:K04250]
 (BCD) CYP4V2 [HSA:285440] [KO:K07427]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: 126600 126700 136880 210370","PMID:19373677
 著者        Walia S, Fishman GA, Kapur R
 タイトル      Flecked-retina syndromes.
 雑誌        Ophthalmic Genet 30:69-75 (2009)
 DOI:10.1080/13816810802654516
 PMID:11913893
 著者        Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC
 タイトル      Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
 雑誌        Eye (Lond) 16:7-15 (2002)
 DOI:10.1038/sj.eye.6700018
 PMID:7952338
 著者        De Laey JJ
 タイトル      Flecked retina disorders.
 雑誌        Bull Soc Belge Ophtalmol 249:11-22 (1993)
 PMID:14767656
 著者        Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y
 タイトル      A case of sectorial benign flecked retina.
 雑誌        Jpn J Ophthalmol 48:72-4 (2004)
 DOI:10.1007/s10384-003-0002-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00825"">H00825</a>","家族性斑点網膜症
 下位グループ    Doyne honeycomb 網膜ジストロフィ [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02110"">H02110</a>]
 Basal laminar drusen [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02108"">H02108</a>]
 白点眼底 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00819"">H00819</a>]
 白点網膜炎
 クリスタリン網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02107"">H02107</a>]","The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secundary retinal flecks due to metabolic disorders.",,"(DHRD) EFEMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2202"">2202</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18262"">K18262</a>]
 (BLD) CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 (FA) RDH5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5959"">5959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00061"">K00061</a>]
 (RPA) RLBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6017"">6017</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19625"">K19625</a>]
 (RPA) RHO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6010"">6010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04250"">K04250</a>]
 (BCD) CYP4V2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285440"">285440</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07427"">K07427</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/126600"">126600</a> <a href=""https://www.omim.org/entry/126700"">126700</a> <a href=""https://www.omim.org/entry/136880"">136880</a> <a href=""https://www.omim.org/entry/210370"">210370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19373677"">19373677</a>
 著者        Walia S, Fishman GA, Kapur R
 タイトル      Flecked-retina syndromes.
 雑誌        Ophthalmic Genet 30:69-75 (2009)
 DOI:<a href=""https://doi.org/10.1080/13816810802654516"">10.1080/13816810802654516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11913893"">11913893</a>
 著者        Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC
 タイトル      Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).
 雑誌        Eye (Lond) 16:7-15 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.eye.6700018"">10.1038/sj.eye.6700018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7952338"">7952338</a>
 著者        De Laey JJ
 タイトル      Flecked retina disorders.
 雑誌        Bull Soc Belge Ophtalmol 249:11-22 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14767656"">14767656</a>
 著者        Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y
 タイトル      A case of sectorial benign flecked retina.
 雑誌        Jpn J Ophthalmol 48:72-4 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10384-003-0002-6"">10.1007/s10384-003-0002-6</a>"
H00826,眼瞼裂狭小・眼瞼下垂・逆内眼角贅皮症候群,,,"Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is involved in palpebral and ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II.",先天奇形,,FOXL2 [HSA:668] [KO:K09405],,,,,Premature ovarian failure is described in H00627.,"ICD-11: LD21.Y
 ICD-10: Q10.3
 MeSH: C562419
 OMIM: 110100","PMID:21957947
 著者        Tyers AG
 タイトル      The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
 雑誌        Orbit 30:199-201 (2011)
 DOI:10.3109/01676830.2010.547266
 PMID:21696507
 著者        Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA
 タイトル      Blepharophimosis-ptosis-epicanthus inversus syndrome.
 雑誌        Pediatr Int 53:390-2 (2011)
 DOI:10.1111/j.1442-200X.2010.03223.x
 PMID:21068205
 著者        Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ
 タイトル      Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
 雑誌        Mutagenesis 26:283-9 (2011)
 DOI:10.1093/mutage/geq086","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00826"">H00826</a>",眼瞼裂狭小・眼瞼下垂・逆内眼角贅皮症候群,"Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is involved in palpebral and ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II.",,"FOXL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:668"">668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09405"">K09405</a>]",,,,,"Premature ovarian failure is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00627."">H00627.</a>","ICD-11: LD21.Y
 ICD-10: Q10.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562419"">C562419</a>
 OMIM: <a href=""https://www.omim.org/entry/110100"">110100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21957947"">21957947</a>
 著者        Tyers AG
 タイトル      The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
 雑誌        Orbit 30:199-201 (2011)
 DOI:<a href=""https://doi.org/10.3109/01676830.2010.547266"">10.3109/01676830.2010.547266</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21696507"">21696507</a>
 著者        Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA
 タイトル      Blepharophimosis-ptosis-epicanthus inversus syndrome.
 雑誌        Pediatr Int 53:390-2 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1442-200X.2010.03223.x"">10.1111/j.1442-200X.2010.03223.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21068205"">21068205</a>
 著者        Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ
 タイトル      Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
 雑誌        Mutagenesis 26:283-9 (2011)
 DOI:<a href=""https://doi.org/10.1093/mutage/geq086"">10.1093/mutage/geq086</a>"
H00827,Brooke-Spiegler 症候群,,,"Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.",皮膚疾患,,CYLD1 [HSA:1540] [KO:K08601],,,,,,"ICD-11: 2F22
 MeSH: C536611
 OMIM: 605041","PMID:19462465
 著者        Blake PW, Toro JR
 タイトル      Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
 雑誌        Hum Mutat 30:1025-36 (2009)
 DOI:10.1002/humu.21024
 PMID:15854031
 著者        Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
 タイトル      Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
 雑誌        J Invest Dermatol 124:919-20 (2005)
 DOI:10.1111/j.0022-202X.2005.23688.x
 PMID:14632188
 著者        Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gurer MA, Celebi JT
 タイトル      A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
 雑誌        J Invest Dermatol 121:732-4 (2003)
 DOI:10.1046/j.1523-1747.2003.12514.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00827"">H00827</a>",Brooke-Spiegler 症候群,"Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.",,"CYLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1540"">1540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08601"">K08601</a>]",,,,,,"ICD-11: 2F22
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536611"">C536611</a>
 OMIM: <a href=""https://www.omim.org/entry/605041"">605041</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19462465"">19462465</a>
 著者        Blake PW, Toro JR
 タイトル      Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
 雑誌        Hum Mutat 30:1025-36 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21024"">10.1002/humu.21024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15854031"">15854031</a>
 著者        Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
 タイトル      Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
 雑誌        J Invest Dermatol 124:919-20 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0022-202X.2005.23688.x"">10.1111/j.0022-202X.2005.23688.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14632188"">14632188</a>
 著者        Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gurer MA, Celebi JT
 タイトル      A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
 雑誌        J Invest Dermatol 121:732-4 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1747.2003.12514.x"">10.1046/j.1523-1747.2003.12514.x</a>"
H00828,家族性円柱腫症,,,"Familial cylindromatosis is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.",皮膚と結合組織の疾患,,CYLD1 [HSA:1540] [KO:K08601],,,,,,"ICD-11: 2F22
 MeSH: C536611
 OMIM: 132700","PMID:7493027
 著者        Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
 タイトル      Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.
 雑誌        Nat Genet 11:441-3 (1995)
 DOI:10.1038/ng1295-441
 PMID:15854031
 著者        Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
 タイトル      Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
 雑誌        J Invest Dermatol 124:919-20 (2005)
 DOI:10.1111/j.0022-202X.2005.23688.x
 PMID:20972631
 著者        van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC
 タイトル      Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
 雑誌        Fam Cancer 10:127-32 (2011)
 DOI:10.1007/s10689-010-9393-y
 PMID:21900959
 著者        Alameda JP, Fernandez-Acenero MJ, Moreno-Maldonado R, Navarro M, Quintana R, Page A, Ramirez A, Bravo A, Casanova ML
 タイトル      CYLD regulates keratinocyte differentiation and skin cancer progression in humans.
 雑誌        Cell Death Dis 2:e208 (2011)
 DOI:10.1038/cddis.2011.82","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00828"">H00828</a>",家族性円柱腫症,"Familial cylindromatosis is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.",,"CYLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1540"">1540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08601"">K08601</a>]",,,,,,"ICD-11: 2F22
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536611"">C536611</a>
 OMIM: <a href=""https://www.omim.org/entry/132700"">132700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7493027"">7493027</a>
 著者        Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
 タイトル      Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.
 雑誌        Nat Genet 11:441-3 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng1295-441"">10.1038/ng1295-441</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15854031"">15854031</a>
 著者        Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
 タイトル      Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
 雑誌        J Invest Dermatol 124:919-20 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0022-202X.2005.23688.x"">10.1111/j.0022-202X.2005.23688.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20972631"">20972631</a>
 著者        van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC
 タイトル      Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
 雑誌        Fam Cancer 10:127-32 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10689-010-9393-y"">10.1007/s10689-010-9393-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21900959"">21900959</a>
 著者        Alameda JP, Fernandez-Acenero MJ, Moreno-Maldonado R, Navarro M, Quintana R, Page A, Ramirez A, Bravo A, Casanova ML
 タイトル      CYLD regulates keratinocyte differentiation and skin cancer progression in humans.
 雑誌        Cell Death Dis 2:e208 (2011)
 DOI:<a href=""https://doi.org/10.1038/cddis.2011.82"">10.1038/cddis.2011.82</a>"
H00829,多発性家族性毛包上皮腫,,,Multiple familial trichoepithelioma is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis.,皮膚と結合組織の疾患,,CYLD1 [HSA:1540] [KO:K08601],,,,,,"ICD-11: 2F22
 ICD-10: D23.3
 MeSH: C536552
 OMIM: 601606","PMID:18355210
 著者        Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A
 タイトル      Multiple familial trichoepithelioma and familial cylindroma: one cause!
 雑誌        J Eur Acad Dermatol Venereol 22:1395-6 (2008)
 DOI:10.1111/j.1468-3083.2008.02648.x
 PMID:22077640
 著者        Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarra G, Seidenari S
 タイトル      Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
 雑誌        J Cutan Pathol 39:366-71 (2012)
 DOI:10.1111/j.1600-0560.2011.01813.x
 PMID:21389835
 著者        Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangueza M, Emberger M, Belousova I, Fernandez-Figueraz MT, Kempf W, Meyer DR, Rutten A, Baltaci M, Michal M
 タイトル      Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
 雑誌        Am J Dermatopathol 33:251-65 (2011)
 DOI:10.1097/DAD.0b013e3181f7d373","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00829"">H00829</a>",多発性家族性毛包上皮腫,Multiple familial trichoepithelioma is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis.,,"CYLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1540"">1540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08601"">K08601</a>]",,,,,,"ICD-11: 2F22
 ICD-10: D23.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536552"">C536552</a>
 OMIM: <a href=""https://www.omim.org/entry/601606"">601606</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18355210"">18355210</a>
 著者        Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A
 タイトル      Multiple familial trichoepithelioma and familial cylindroma: one cause!
 雑誌        J Eur Acad Dermatol Venereol 22:1395-6 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2008.02648.x"">10.1111/j.1468-3083.2008.02648.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22077640"">22077640</a>
 著者        Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarra G, Seidenari S
 タイトル      Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
 雑誌        J Cutan Pathol 39:366-71 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0560.2011.01813.x"">10.1111/j.1600-0560.2011.01813.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21389835"">21389835</a>
 著者        Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangueza M, Emberger M, Belousova I, Fernandez-Figueraz MT, Kempf W, Meyer DR, Rutten A, Baltaci M, Michal M
 タイトル      Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
 雑誌        Am J Dermatopathol 33:251-65 (2011)
 DOI:<a href=""https://doi.org/10.1097/DAD.0b013e3181f7d373"">10.1097/DAD.0b013e3181f7d373</a>"
H00830,肺静脈の連結不良を伴う肺胞毛細管形成異常,,,Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN). FOXF1 is pathogenic for ACD/MPV and most of the cases have been reported to occur sporadically.,呼吸器系疾患,,FOXF1 [HSA:2294] [KO:K09399],,,,,,"ICD-11: CB04.0
 ICD-10: J84.8
 MeSH: D010547
 OMIM: 265380","PMID:21471096
 著者        Bishop NB, Stankiewicz P, Steinhorn RH
 タイトル      Alveolar capillary dysplasia.
 雑誌        Am J Respir Crit Care Med 184:172-9 (2011)
 DOI:10.1164/rccm.201010-1697CI
 PMID:21835371
 著者        Hung SP, Huang SH, Wu CH, Chen WC, Kou KE, Wang NK, Lin LH
 タイトル      Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy.
 雑誌        Pediatr Neonatol 52:232-6 (2011)
 DOI:10.1016/j.pedneo.2011.05.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00830"">H00830</a>",肺静脈の連結不良を伴う肺胞毛細管形成異常,Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN). FOXF1 is pathogenic for ACD/MPV and most of the cases have been reported to occur sporadically.,,"FOXF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2294"">2294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09399"">K09399</a>]",,,,,,"ICD-11: CB04.0
 ICD-10: J84.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010547"">D010547</a>
 OMIM: <a href=""https://www.omim.org/entry/265380"">265380</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21471096"">21471096</a>
 著者        Bishop NB, Stankiewicz P, Steinhorn RH
 タイトル      Alveolar capillary dysplasia.
 雑誌        Am J Respir Crit Care Med 184:172-9 (2011)
 DOI:<a href=""https://doi.org/10.1164/rccm.201010-1697CI"">10.1164/rccm.201010-1697CI</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21835371"">21835371</a>
 著者        Hung SP, Huang SH, Wu CH, Chen WC, Kou KE, Wang NK, Lin LH
 タイトル      Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy.
 雑誌        Pediatr Neonatol 52:232-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.pedneo.2011.05.010"">10.1016/j.pedneo.2011.05.010</a>"
H00831,"遺伝性ジストニア
 下位グループ    ドーパ反応性ジストニア (DRD) [DS:H02557]",,,"Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 distinct monogenic primary dystonias have been recognized. They can be divided into Primary torsion dystonias (PTDs), dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias.",神経系疾患,,"(DYT1) TOR1A [HSA:1861] [KO:K22990]
 (DYT2) HPCA [HSA:3208] [KO:K23846]
 (DYT3) TAF1 [HSA:6872] [KO:K03125]
 (DYT4) TUBB4A [HSA:10382] [KO:K07375]
 (DYT5) GCH1 [HSA:2643] [KO:K01495]
 (DYT6) THAP1 [HSA:55145] [KO:K23203]
 (DYT8) PNKD [HSA:25953] [KO:K23864]
 (DYT9/DYT18) SLC2A1 [HSA:6513] [KO:K07299]
 (DYT10) PRRT2 [HSA:112476] [KO:K23897]
 (DYT11) SGCE [HSA:8910]
 (DYT12) ATP1A3 [HSA:478] [KO:K01539]
 (DYT16) PRKRA [HSA:8575] [KO:K24540]
 (DYT23) CACNA1B [HSA:774] [KO:K04849]
 (DYT24) ANO3 [HSA:63982] [KO:K19498]
 (DYT25) GNAL [HSA:2774] [KO:K04633]
 (DYT26) KCTD17 [HSA:79734] [KO:K21914]
 (DYT27) COL6A3 [HSA:1293] [KO:K06238]
 (DYT28) KMT2B [HSA:9757] [KO:K14959]
 (DYT29) MECR [HSA:51102] [KO:K07512]
 (DYT30) VPS16 [HSA:64601] [KO:K20180]
 (DYT31) AOPEP [HSA:84909] [KO:K09606]
 (DYT32) VPS11 [HSA:55823] [KO:K20179]
 (DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
 (DYT34) KCNN2 [HSA:3781] [KO:K04943]
 (DYT35) SHQ1 [HSA:55164] [KO:K14764]",,,,,,"ICD-11: 8A02.0
 ICD-10: G24.1
 MeSH: D020821
 OMIM: 128100 128101 224500 314250 128230 602629 118800 128200 159900 128235 612067 601042 614860 615034 615073 616398 616411 612716 605407 617284 617282 619291 619565 619637 619687 619724 619921","PMID:22030388
 著者        Phukan J, Albanese A, Gasser T, Warner T
 タイトル      Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.
 雑誌        Lancet Neurol 10:1074-85 (2011)
 DOI:10.1016/S1474-4422(11)70232-0
 PMID:20425035
 著者        Bruggemann N, Klein C
 タイトル      Genetics of primary torsion dystonia.
 雑誌        Curr Neurol Neurosci Rep 10:199-206 (2010)
 DOI:10.1007/s11910-010-0107-5
 PMID:19578124
 著者        Muller U
 タイトル      The monogenic primary dystonias.
 雑誌        Brain 132:2005-25 (2009)
 DOI:10.1093/brain/awp172
 PMID:21907099
 著者        Barrett MJ, Bressman S
 タイトル      Genetics and pharmacological treatment of dystonia.
 雑誌        Int Rev Neurobiol 98:525-49 (2011)
 DOI:10.1016/B978-0-12-381328-2.00019-5
 PMID:9288096 (TOR1A)
 著者        Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO
 タイトル      The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
 雑誌        Nat Genet 17:40-8 (1997)
 DOI:10.1038/ng0997-40
 PMID:25799108 (HPCA)
 著者        Charlesworth G, Angelova PR, Bartolome-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW
 タイトル      Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
 雑誌        Am J Hum Genet 96:657-65 (2015)
 DOI:10.1016/j.ajhg.2015.02.007
 PMID:17273961 (TAF1)
 著者        Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena MD, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya G
 タイトル      Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.
 雑誌        Am J Hum Genet 80:393-406 (2007)
 DOI:10.1086/512129
 PMID:23424103 (TUBB4A)
 著者        Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H
 タイトル      Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia.
 雑誌        Ann Neurol 73:546-53 (2013)
 DOI:10.1002/ana.23832
 PMID:7874165 (GCH1)
 著者        Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al.
 タイトル      Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
 雑誌        Nat Genet 8:236-42 (1994)
 DOI:10.1038/ng1194-236
 PMID:19182804 (THAP1)
 著者        Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ
 タイトル      Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
 雑誌        Nat Genet 41:286-8 (2009)
 DOI:10.1038/ng.304
 PMID:15262732 (PNKD)
 著者        Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK
 タイトル      Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
 雑誌        Arch Neurol 61:1025-9 (2004)
 DOI:10.1001/archneur.61.7.1025
 PMID:21832227 (SLC2A1)
 著者        Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schule R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schols L, De Jonghe P, Auburger G, Lerche H
 タイトル      Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
 雑誌        Neurology 77:959-64 (2011)
 DOI:10.1212/WNL.0b013e31822e0479
 PMID:22101681 (PRRT2)
 著者        Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY
 タイトル      Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
 雑誌        Nat Genet 43:1252-5 (2011)
 DOI:10.1038/ng.1008
 PMID:11528394 (SGCE)
 著者        Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T
 タイトル      Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
 雑誌        Nat Genet 29:66-9 (2001)
 DOI:10.1038/ng709
 PMID:15260953 (ATP1A3)
 著者        de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
 タイトル      Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
 雑誌        Neuron 43:169-75 (2004)
 DOI:10.1016/j.neuron.2004.06.028
 PMID:18243799 (PRKRA)
 著者        Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB
 タイトル      DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
 雑誌        Lancet Neurol 7:207-15 (2008)
 DOI:10.1016/S1474-4422(08)70022-X
 PMID:25296916 (CACNA1B)
 著者        Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nurnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA
 タイトル      CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
 雑誌        Hum Mol Genet 24:987-93 (2015)
 DOI:10.1093/hmg/ddu513
 PMID:23200863 (ANO3)
 著者        Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW
 タイトル      Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
 雑誌        Am J Hum Genet 91:1041-50 (2012)
 DOI:10.1016/j.ajhg.2012.10.024
 PMID:23222958 (GNAL)
 著者        Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Herve D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ
 タイトル      Mutations in GNAL cause primary torsion dystonia.
 雑誌        Nat Genet 45:88-92 (2013)
 DOI:10.1038/ng.2496
 PMID:25983243 (KCTD17)
 著者        Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW
 タイトル      A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
 雑誌        Am J Hum Genet 96:938-47 (2015)
 DOI:10.1016/j.ajhg.2015.04.008
 PMID:26004199 (COL6A3)
 著者        Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmuller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J
 タイトル      Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
 雑誌        Am J Hum Genet 96:883-93 (2015)
 DOI:10.1016/j.ajhg.2015.04.010
 PMID:27992417 (KMT2B)
 著者        Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, Pittman A, Carr LJ, Perez-Duenas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA
 タイトル      Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
 雑誌        Nat Genet 49:223-237 (2017)
 DOI:10.1038/ng.3740
 PMID:27817865 (MECR)
 著者        Heimer G, Keratar JM, Riley LG, Balasubramaniam S, Eyal E, Pietikainen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ
 タイトル      MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
 雑誌        Am J Hum Genet 99:1229-1244 (2016)
 DOI:10.1016/j.ajhg.2016.09.021
 PMID:32808683 (VPS16)
 著者        Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Skorvanek M, Necpal J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Botzel K, Koch JC, Kmiec T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J
 タイトル      Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
 雑誌        Ann Neurol 88:867-877 (2020)
 DOI:10.1002/ana.25879
 PMID:34596301 (AOPEP)
 著者        Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Meneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S
 タイトル      Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
 雑誌        Mov Disord (2021)
 DOI:10.1002/mds.28804
 PMID:33452836 (VPS11)
 著者        Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A
 タイトル      A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
 雑誌        Ann Neurol 89:834-839 (2021)
 DOI:10.1002/ana.26021
 PMID:33236446 (EIF2AK2)
 著者        Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kuhn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V
 タイトル      EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
 雑誌        Ann Neurol 89:485-497 (2021)
 DOI:10.1002/ana.25973
 PMID:32212350 (KCNN2)
 著者        Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J
 タイトル      KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
 雑誌        Eur J Neurol 27:1471-1477 (2020)
 DOI:10.1111/ene.14228
 PMID:34542157 (SHQ1)
 著者        Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D'Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L, Christodoulou J, Boycott KM, Dragon F, Kernohan KD
 タイトル      Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
 雑誌        Hum Mol Genet 31:614-624 (2022)
 DOI:10.1093/hmg/ddab247","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00831"">H00831</a>","遺伝性ジストニア
 下位グループ    ドーパ反応性ジストニア (DRD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02557"">H02557</a>]","Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 distinct monogenic primary dystonias have been recognized. They can be divided into Primary torsion dystonias (PTDs), dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias.",,"(DYT1) TOR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1861"">1861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22990"">K22990</a>]
 (DYT2) HPCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3208"">3208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23846"">K23846</a>]
 (DYT3) TAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6872"">6872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03125"">K03125</a>]
 (DYT4) TUBB4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10382"">10382</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (DYT5) GCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2643"">2643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01495"">K01495</a>]
 (DYT6) THAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55145"">55145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23203"">K23203</a>]
 (DYT8) PNKD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25953"">25953</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23864"">K23864</a>]
 (DYT9/DYT18) SLC2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6513"">6513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07299"">K07299</a>]
 (DYT10) PRRT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112476"">112476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23897"">K23897</a>]
 (DYT11) SGCE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8910"">8910</a>]
 (DYT12) ATP1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:478"">478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 (DYT16) PRKRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8575"">8575</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24540"">K24540</a>]
 (DYT23) CACNA1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:774"">774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04849"">K04849</a>]
 (DYT24) ANO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63982"">63982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19498"">K19498</a>]
 (DYT25) GNAL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2774"">2774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04633"">K04633</a>]
 (DYT26) KCTD17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79734"">79734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21914"">K21914</a>]
 (DYT27) COL6A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1293"">1293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 (DYT28) KMT2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9757"">9757</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14959"">K14959</a>]
 (DYT29) MECR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51102"">51102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07512"">K07512</a>]
 (DYT30) VPS16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64601"">64601</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20180"">K20180</a>]
 (DYT31) AOPEP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84909"">84909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09606"">K09606</a>]
 (DYT32) VPS11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55823"">55823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20179"">K20179</a>]
 (DYT33) EIF2AK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5610"">5610</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16195"">K16195</a>]
 (DYT34) KCNN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3781"">3781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04943"">K04943</a>]
 (DYT35) SHQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55164"">55164</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14764"">K14764</a>]",,,,,,"ICD-11: 8A02.0
 ICD-10: G24.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020821"">D020821</a>
 OMIM: <a href=""https://www.omim.org/entry/128100"">128100</a> <a href=""https://www.omim.org/entry/128101"">128101</a> <a href=""https://www.omim.org/entry/224500"">224500</a> <a href=""https://www.omim.org/entry/314250"">314250</a> <a href=""https://www.omim.org/entry/128230"">128230</a> <a href=""https://www.omim.org/entry/602629"">602629</a> <a href=""https://www.omim.org/entry/118800"">118800</a> <a href=""https://www.omim.org/entry/128200"">128200</a> <a href=""https://www.omim.org/entry/159900"">159900</a> <a href=""https://www.omim.org/entry/128235"">128235</a> <a href=""https://www.omim.org/entry/612067"">612067</a> <a href=""https://www.omim.org/entry/601042"">601042</a> <a href=""https://www.omim.org/entry/614860"">614860</a> <a href=""https://www.omim.org/entry/615034"">615034</a> <a href=""https://www.omim.org/entry/615073"">615073</a> <a href=""https://www.omim.org/entry/616398"">616398</a> <a href=""https://www.omim.org/entry/616411"">616411</a> <a href=""https://www.omim.org/entry/612716"">612716</a> <a href=""https://www.omim.org/entry/605407"">605407</a> <a href=""https://www.omim.org/entry/617284"">617284</a> <a href=""https://www.omim.org/entry/617282"">617282</a> <a href=""https://www.omim.org/entry/619291"">619291</a> <a href=""https://www.omim.org/entry/619565"">619565</a> <a href=""https://www.omim.org/entry/619637"">619637</a> <a href=""https://www.omim.org/entry/619687"">619687</a> <a href=""https://www.omim.org/entry/619724"">619724</a> <a href=""https://www.omim.org/entry/619921"">619921</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22030388"">22030388</a>
 著者        Phukan J, Albanese A, Gasser T, Warner T
 タイトル      Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.
 雑誌        Lancet Neurol 10:1074-85 (2011)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(11)70232-0"">10.1016/S1474-4422(11)70232-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425035"">20425035</a>
 著者        Bruggemann N, Klein C
 タイトル      Genetics of primary torsion dystonia.
 雑誌        Curr Neurol Neurosci Rep 10:199-206 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11910-010-0107-5"">10.1007/s11910-010-0107-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19578124"">19578124</a>
 著者        Muller U
 タイトル      The monogenic primary dystonias.
 雑誌        Brain 132:2005-25 (2009)
 DOI:<a href=""https://doi.org/10.1093/brain/awp172"">10.1093/brain/awp172</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21907099"">21907099</a>
 著者        Barrett MJ, Bressman S
 タイトル      Genetics and pharmacological treatment of dystonia.
 雑誌        Int Rev Neurobiol 98:525-49 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-12-381328-2.00019-5"">10.1016/B978-0-12-381328-2.00019-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9288096"">9288096</a> (TOR1A)
 著者        Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO
 タイトル      The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
 雑誌        Nat Genet 17:40-8 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0997-40"">10.1038/ng0997-40</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25799108"">25799108</a> (HPCA)
 著者        Charlesworth G, Angelova PR, Bartolome-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW
 タイトル      Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
 雑誌        Am J Hum Genet 96:657-65 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.007"">10.1016/j.ajhg.2015.02.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273961"">17273961</a> (TAF1)
 著者        Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena MD, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya G
 タイトル      Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.
 雑誌        Am J Hum Genet 80:393-406 (2007)
 DOI:<a href=""https://doi.org/10.1086/512129"">10.1086/512129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23424103"">23424103</a> (TUBB4A)
 著者        Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H
 タイトル      Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia.
 雑誌        Ann Neurol 73:546-53 (2013)
 DOI:<a href=""https://doi.org/10.1002/ana.23832"">10.1002/ana.23832</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7874165"">7874165</a> (GCH1)
 著者        Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al.
 タイトル      Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
 雑誌        Nat Genet 8:236-42 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng1194-236"">10.1038/ng1194-236</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19182804"">19182804</a> (THAP1)
 著者        Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ
 タイトル      Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
 雑誌        Nat Genet 41:286-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.304"">10.1038/ng.304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15262732"">15262732</a> (PNKD)
 著者        Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK
 タイトル      Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
 雑誌        Arch Neurol 61:1025-9 (2004)
 DOI:<a href=""https://doi.org/10.1001/archneur.61.7.1025"">10.1001/archneur.61.7.1025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21832227"">21832227</a> (SLC2A1)
 著者        Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schule R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schols L, De Jonghe P, Auburger G, Lerche H
 タイトル      Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
 雑誌        Neurology 77:959-64 (2011)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e31822e0479"">10.1212/WNL.0b013e31822e0479</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22101681"">22101681</a> (PRRT2)
 著者        Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY
 タイトル      Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
 雑誌        Nat Genet 43:1252-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.1008"">10.1038/ng.1008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11528394"">11528394</a> (SGCE)
 著者        Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T
 タイトル      Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
 雑誌        Nat Genet 29:66-9 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng709"">10.1038/ng709</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15260953"">15260953</a> (ATP1A3)
 著者        de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ
 タイトル      Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
 雑誌        Neuron 43:169-75 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2004.06.028"">10.1016/j.neuron.2004.06.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18243799"">18243799</a> (PRKRA)
 著者        Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB
 タイトル      DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
 雑誌        Lancet Neurol 7:207-15 (2008)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(08)70022-X"">10.1016/S1474-4422(08)70022-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25296916"">25296916</a> (CACNA1B)
 著者        Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nurnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA
 タイトル      CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
 雑誌        Hum Mol Genet 24:987-93 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu513"">10.1093/hmg/ddu513</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23200863"">23200863</a> (ANO3)
 著者        Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW
 タイトル      Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
 雑誌        Am J Hum Genet 91:1041-50 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.024"">10.1016/j.ajhg.2012.10.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23222958"">23222958</a> (GNAL)
 著者        Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Herve D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ
 タイトル      Mutations in GNAL cause primary torsion dystonia.
 雑誌        Nat Genet 45:88-92 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2496"">10.1038/ng.2496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25983243"">25983243</a> (KCTD17)
 著者        Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW
 タイトル      A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
 雑誌        Am J Hum Genet 96:938-47 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.008"">10.1016/j.ajhg.2015.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26004199"">26004199</a> (COL6A3)
 著者        Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmuller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J
 タイトル      Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
 雑誌        Am J Hum Genet 96:883-93 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.010"">10.1016/j.ajhg.2015.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27992417"">27992417</a> (KMT2B)
 著者        Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, Pittman A, Carr LJ, Perez-Duenas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA
 タイトル      Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
 雑誌        Nat Genet 49:223-237 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3740"">10.1038/ng.3740</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27817865"">27817865</a> (MECR)
 著者        Heimer G, Keratar JM, Riley LG, Balasubramaniam S, Eyal E, Pietikainen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ
 タイトル      MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
 雑誌        Am J Hum Genet 99:1229-1244 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.021"">10.1016/j.ajhg.2016.09.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32808683"">32808683</a> (VPS16)
 著者        Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Skorvanek M, Necpal J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Botzel K, Koch JC, Kmiec T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J
 タイトル      Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
 雑誌        Ann Neurol 88:867-877 (2020)
 DOI:<a href=""https://doi.org/10.1002/ana.25879"">10.1002/ana.25879</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34596301"">34596301</a> (AOPEP)
 著者        Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Meneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S
 タイトル      Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
 雑誌        Mov Disord (2021)
 DOI:<a href=""https://doi.org/10.1002/mds.28804"">10.1002/mds.28804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33452836"">33452836</a> (VPS11)
 著者        Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A
 タイトル      A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
 雑誌        Ann Neurol 89:834-839 (2021)
 DOI:<a href=""https://doi.org/10.1002/ana.26021"">10.1002/ana.26021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33236446"">33236446</a> (EIF2AK2)
 著者        Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kuhn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V
 タイトル      EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
 雑誌        Ann Neurol 89:485-497 (2021)
 DOI:<a href=""https://doi.org/10.1002/ana.25973"">10.1002/ana.25973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32212350"">32212350</a> (KCNN2)
 著者        Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J
 タイトル      KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
 雑誌        Eur J Neurol 27:1471-1477 (2020)
 DOI:<a href=""https://doi.org/10.1111/ene.14228"">10.1111/ene.14228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34542157"">34542157</a> (SHQ1)
 著者        Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D'Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L, Christodoulou J, Boycott KM, Dragon F, Kernohan KD
 タイトル      Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
 雑誌        Hum Mol Genet 31:614-624 (2022)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddab247"">10.1093/hmg/ddab247</a>"
H00832,"中核群神経有棘赤血球症
 下位グループ    有棘赤血球を伴う舞踏病 (ChAc) [DS:H01432]
 マクラウド症候群 (MLS) [DS:H00655]
 ハンチントン病類縁疾患 2 型 (HDL2) [DS:H01243]
 パントテン酸キナーゼ関連神経変性症 (PKAN) [DS:H02208]",,,"Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known.",神経系疾患,,"(ChAc) VPS13A [HSA:23230] [KO:K19525]
 (MLS) XK [HSA:7504] [KO:K19522]
 (HDL2) JPH3 [HSA:57338] [KO:K19530]
 (PKAN) PANK2 [HSA:80025] [KO:K09680]",,,,,"McLeod syndrome is described in [HD:H00655].
 Chorea-acanthocytosis is described in [HD:H01432].
 PKAN is allelic with HARP syndrome.","ICD-11: 3A10.Y 8A01.1Y
 ICD-10: G23.0
 OMIM: 200150 300842 606438 607236","PMID:22027213
 著者        Jung HH, Danek A, Walker RH
 タイトル      Neuroacanthocytosis syndromes.
 雑誌        Orphanet J Rare Dis 6:68 (2011)
 DOI:10.1186/1750-1172-6-68
 PMID:18567359
 著者        Ichiba M, Nakamura M, Sano A
 タイトル      [Neuroacanthocytosis update].
 雑誌        Brain Nerve 60:635-41 (2008)
 DOI:10.11477/mf.1416100292","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>","中核群神経有棘赤血球症
 下位グループ    有棘赤血球を伴う舞踏病 (ChAc) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01432"">H01432</a>]
 マクラウド症候群 (MLS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00655"">H00655</a>]
 ハンチントン病類縁疾患 2 型 (HDL2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01243"">H01243</a>]
 パントテン酸キナーゼ関連神経変性症 (PKAN) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02208"">H02208</a>]","Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known.",,"(ChAc) VPS13A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23230"">23230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19525"">K19525</a>]
 (MLS) XK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7504"">7504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19522"">K19522</a>]
 (HDL2) JPH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57338"">57338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19530"">K19530</a>]
 (PKAN) PANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80025"">80025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09680"">K09680</a>]",,,,,"McLeod syndrome is described in [HD:<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00655]."">H00655].</a>
 Chorea-acanthocytosis is described in [HD:<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01432]."">H01432].</a>
 PKAN is allelic with HARP syndrome.","ICD-11: 3A10.Y 8A01.1Y
 ICD-10: G23.0
 OMIM: <a href=""https://www.omim.org/entry/200150"">200150</a> <a href=""https://www.omim.org/entry/300842"">300842</a> <a href=""https://www.omim.org/entry/606438"">606438</a> <a href=""https://www.omim.org/entry/607236"">607236</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22027213"">22027213</a>
 著者        Jung HH, Danek A, Walker RH
 タイトル      Neuroacanthocytosis syndromes.
 雑誌        Orphanet J Rare Dis 6:68 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-68"">10.1186/1750-1172-6-68</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18567359"">18567359</a>
 著者        Ichiba M, Nakamura M, Sano A
 タイトル      [Neuroacanthocytosis update].
 雑誌        Brain Nerve 60:635-41 (2008)
 DOI:<a href=""https://doi.org/10.11477/mf.1416100292"">10.11477/mf.1416100292</a>"
H00833,"脳の鉄沈着を伴う神経変性疾患
 下位グループ    パントテン酸キナーゼ関連神経変性症 [DS:H02208]
 神経フェリチン症 [DS:H01779]
 無セルロプラスミン血症 [DS:H02206]
 Kufor-Rakeb 症候群 [DS:H02207]",,,"Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.",神経系疾患,,"(NBIA1) PANK2 [HSA:80025] [KO:K09680]
 (NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
 (NBIA3) FTL [HSA:2512] [KO:K13625]
 (NBIA4) MPAN [HSA:83636] [KO:K23168]
 (NBIA5) WDR45 [HSA:11152] [KO:K22991]
 (NBIA6) COASY [HSA:80347] [KO:K02318]
 (NBIA7) REPS1 [HSA:85021] [KO:K20068]
 (NBIA8) CRAT [HSA:1384] [KO:K00624]",,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: D006211 D019150 C565699 C548080
 OMIM: 234200 256600 610217 606159 614298 300894 615643 617916 617917","PMID:21550835
 著者        Friedman A, Arosio P, Finazzi D, Koziorowski D, Galazka-Friedman J
 タイトル      Ferritin as an important player in neurodegeneration.
 雑誌        Parkinsonism Relat Disord 17:423-30 (2011)
 DOI:10.1016/j.parkreldis.2011.03.016
 PMID:21480873
 著者        Kurian MA, McNeill A, Lin JP, Maher ER
 タイトル      Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
 雑誌        Dev Med Child Neurol 53:394-404 (2011)
 DOI:10.1111/j.1469-8749.2011.03955.x
 PMID:20882425
 著者        Kamate M, Mali R, Tonne V, Bubanale S
 タイトル      'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration.
 雑誌        Indian J Pediatr 78:121-2 (2011)
 DOI:10.1007/s12098-010-0234-7
 PMID:20853438
 著者        Kruer MC, Paisan-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ
 タイトル      Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
 雑誌        Ann Neurol 68:611-8 (2010)
 DOI:10.1002/ana.22122
 PMID:23269600
 著者        Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ
 タイトル      New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
 雑誌        Neurology 80:268-75 (2013)
 DOI:10.1212/WNL.0b013e31827e07be
 PMID:23176820
 著者        Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Heron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
 タイトル      Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
 雑誌        Am J Hum Genet 91:1144-9 (2012)
 DOI:10.1016/j.ajhg.2012.10.019
 PMID:24360804
 著者        Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V
 タイトル      Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
 雑誌        Am J Hum Genet 94:11-22 (2014)
 DOI:10.1016/j.ajhg.2013.11.008
 PMID:29395073
 著者        Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traore M, Habarou F, Bole-Feysot C, Nitschke P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rotig A
 タイトル      Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
 雑誌        Am J Hum Genet 102:266-277 (2018)
 DOI:10.1016/j.ajhg.2018.01.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>","脳の鉄沈着を伴う神経変性疾患
 下位グループ    パントテン酸キナーゼ関連神経変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02208"">H02208</a>]
 神経フェリチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01779"">H01779</a>]
 無セルロプラスミン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02206"">H02206</a>]
 Kufor-Rakeb 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02207"">H02207</a>]","Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.",,"(NBIA1) PANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80025"">80025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09680"">K09680</a>]
 (NBIA2A, NBIA2B) PLA2G6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8398"">8398</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16343"">K16343</a>]
 (NBIA3) FTL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2512"">2512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13625"">K13625</a>]
 (NBIA4) MPAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83636"">83636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23168"">K23168</a>]
 (NBIA5) WDR45 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11152"">11152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22991"">K22991</a>]
 (NBIA6) COASY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80347"">80347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02318"">K02318</a>]
 (NBIA7) REPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85021"">85021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20068"">K20068</a>]
 (NBIA8) CRAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1384"">1384</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00624"">K00624</a>]",,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006211"">D006211</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019150"">D019150</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565699"">C565699</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C548080"">C548080</a>
 OMIM: <a href=""https://www.omim.org/entry/234200"">234200</a> <a href=""https://www.omim.org/entry/256600"">256600</a> <a href=""https://www.omim.org/entry/610217"">610217</a> <a href=""https://www.omim.org/entry/606159"">606159</a> <a href=""https://www.omim.org/entry/614298"">614298</a> <a href=""https://www.omim.org/entry/300894"">300894</a> <a href=""https://www.omim.org/entry/615643"">615643</a> <a href=""https://www.omim.org/entry/617916"">617916</a> <a href=""https://www.omim.org/entry/617917"">617917</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21550835"">21550835</a>
 著者        Friedman A, Arosio P, Finazzi D, Koziorowski D, Galazka-Friedman J
 タイトル      Ferritin as an important player in neurodegeneration.
 雑誌        Parkinsonism Relat Disord 17:423-30 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.parkreldis.2011.03.016"">10.1016/j.parkreldis.2011.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21480873"">21480873</a>
 著者        Kurian MA, McNeill A, Lin JP, Maher ER
 タイトル      Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
 雑誌        Dev Med Child Neurol 53:394-404 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2011.03955.x"">10.1111/j.1469-8749.2011.03955.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20882425"">20882425</a>
 著者        Kamate M, Mali R, Tonne V, Bubanale S
 タイトル      'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration.
 雑誌        Indian J Pediatr 78:121-2 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12098-010-0234-7"">10.1007/s12098-010-0234-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20853438"">20853438</a>
 著者        Kruer MC, Paisan-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ
 タイトル      Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
 雑誌        Ann Neurol 68:611-8 (2010)
 DOI:<a href=""https://doi.org/10.1002/ana.22122"">10.1002/ana.22122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23269600"">23269600</a>
 著者        Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ
 タイトル      New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
 雑誌        Neurology 80:268-75 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e31827e07be"">10.1212/WNL.0b013e31827e07be</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23176820"">23176820</a>
 著者        Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Heron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
 タイトル      Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
 雑誌        Am J Hum Genet 91:1144-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.019"">10.1016/j.ajhg.2012.10.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24360804"">24360804</a>
 著者        Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V
 タイトル      Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
 雑誌        Am J Hum Genet 94:11-22 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.008"">10.1016/j.ajhg.2013.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29395073"">29395073</a>
 著者        Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traore M, Habarou F, Bole-Feysot C, Nitschke P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rotig A
 タイトル      Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
 雑誌        Am J Hum Genet 102:266-277 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.01.003"">10.1016/j.ajhg.2018.01.003</a>"
H00834,"グアニジノ酢酸メチルトランスフェラーゼ欠損症
 上位グループ    脳クレアチン欠乏症候群 [DS:H00849]",,,"Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a lack of creatine and an accumulation of guanidinoacetic acid, the precursor of creatine. GAMT deficiency is characterized by developmental arrest or delay in the first few months of life with epilepsy and extrapyramidal movements as common features. Neurologic signs and symptoms are variable, and autistic spectrum disorders are sometimes seen in older affected individuals. Pathophysiology of GAMT deficiency is thought that the accumulation of guanidinoacetate can interact with neuronal GABAA receptors and cause the neurological dysfunction which underlies these symptoms.",先天性代謝異常症,,GAMT [HSA:2593] [KO:K00542],,,,,GAMT deficiency is included in Creatine deficiency syndrome. [DS:H00849],"ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: D050937
 OMIM: 612736","PMID:18708003 (description, gene, marker)
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:10.1016/j.spen.2008.05.006
 PMID:19289269
 著者        Gordon N
 タイトル      Guanidinoacetate methyltransferase deficiency (GAMT).
 雑誌        Brain Dev 32:79-81 (2010)
 DOI:10.1016/j.braindev.2009.01.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00834"">H00834</a>","グアニジノ酢酸メチルトランスフェラーゼ欠損症
 上位グループ    脳クレアチン欠乏症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00849"">H00849</a>]","Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a lack of creatine and an accumulation of guanidinoacetic acid, the precursor of creatine. GAMT deficiency is characterized by developmental arrest or delay in the first few months of life with epilepsy and extrapyramidal movements as common features. Neurologic signs and symptoms are variable, and autistic spectrum disorders are sometimes seen in older affected individuals. Pathophysiology of GAMT deficiency is thought that the accumulation of guanidinoacetate can interact with neuronal GABAA receptors and cause the neurological dysfunction which underlies these symptoms.",,"GAMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2593"">2593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00542"">K00542</a>]",,,,,"GAMT deficiency is included in Creatine deficiency syndrome. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00849"">H00849</a>]","ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050937"">D050937</a>
 OMIM: <a href=""https://www.omim.org/entry/612736"">612736</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708003"">18708003</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.006"">10.1016/j.spen.2008.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19289269"">19289269</a>
 著者        Gordon N
 タイトル      Guanidinoacetate methyltransferase deficiency (GAMT).
 雑誌        Brain Dev 32:79-81 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2009.01.008"">10.1016/j.braindev.2009.01.008</a>"
H00835,"コハク酸セミアルデヒド脱水素酵素欠損症;
 4-ヒドロキシ酪酸尿症",,,"Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic acid from succinic semialdehyde and leading to the increased production of 4-HBA.",先天性代謝異常症,,ALDH5A1 [HSA:7915] [KO:K00139],,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: C535803
 OMIM: 271980","PMID:18708003 (description, gene, drug)
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:10.1016/j.spen.2008.05.006
 PMID:19172412
 著者        Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH
 タイトル      Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
 雑誌        J Inherit Metab Dis 32:343-52 (2009)
 DOI:10.1007/s10545-009-1034-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00835"">H00835</a>","コハク酸セミアルデヒド脱水素酵素欠損症;
 4-ヒドロキシ酪酸尿症","Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic acid from succinic semialdehyde and leading to the increased production of 4-HBA.",,"ALDH5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7915"">7915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00139"">K00139</a>]",,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535803"">C535803</a>
 OMIM: <a href=""https://www.omim.org/entry/271980"">271980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708003"">18708003</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.006"">10.1016/j.spen.2008.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19172412"">19172412</a>
 著者        Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH
 タイトル      Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
 雑誌        J Inherit Metab Dis 32:343-52 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10545-009-1034-y"">10.1007/s10545-009-1034-y</a>"
H00836,"グルコーストランスポーター1欠損症;
 GLUT1欠損症候群",,,"GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.",神経系疾患,,GLUT1 [HSA:6513] [KO:K07299],,,,,,"ICD-11: 5C61.5 8A61.4Y
 ICD-10: G93.4
 MeSH: C536830
 OMIM: 606777 612126","PMID:18708003
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:10.1016/j.spen.2008.05.006
 PMID:21962875
 著者        Verrotti A, D'Egidio C, Agostinelli S, Gobbi G
 タイトル      Glut1 deficiency: when to suspect and how to diagnose?
 雑誌        Eur J Paediatr Neurol 16:3-9 (2012)
 DOI:10.1016/j.ejpn.2011.09.005
 PMID:21382692
 著者        Klepper J
 タイトル      GLUT1 deficiency syndrome in clinical practice.
 雑誌        Epilepsy Res 100:272-7 (2012)
 DOI:10.1016/j.eplepsyres.2011.02.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00836"">H00836</a>","グルコーストランスポーター1欠損症;
 GLUT1欠損症候群","GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.",,"GLUT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6513"">6513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07299"">K07299</a>]",,,,,,"ICD-11: 5C61.5 8A61.4Y
 ICD-10: G93.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536830"">C536830</a>
 OMIM: <a href=""https://www.omim.org/entry/606777"">606777</a> <a href=""https://www.omim.org/entry/612126"">612126</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708003"">18708003</a>
 著者        Kayser MA
 タイトル      Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
 雑誌        Semin Pediatr Neurol 15:127-31 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.006"">10.1016/j.spen.2008.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21962875"">21962875</a>
 著者        Verrotti A, D'Egidio C, Agostinelli S, Gobbi G
 タイトル      Glut1 deficiency: when to suspect and how to diagnose?
 雑誌        Eur J Paediatr Neurol 16:3-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2011.09.005"">10.1016/j.ejpn.2011.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21382692"">21382692</a>
 著者        Klepper J
 タイトル      GLUT1 deficiency syndrome in clinical practice.
 雑誌        Epilepsy Res 100:272-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2011.02.007"">10.1016/j.eplepsyres.2011.02.007</a>"
H00837,"レーバー先天性黒内障
 下位グループ    早期発症の難聴を伴うレーバー先天性黒内障 (LCAEOD)",,,"Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets.",神経系疾患,,"(LCA1) GUCY2D [HSA:3000] [KO:K12321]
 (LCA2) RPE65 [HSA:6121] [KO:K11158]
 (LCA3) SPATA7 [HSA:55812] [KO:K19655]
 (LCA4) AIPL1 [HSA:23746] [KO:K17767]
 (LCA5) LCA5 [HSA:167691] [KO:K24828]
 (LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
 (LCA7) CRX [HSA:1406] [KO:K09337]
 (LCA8) CRB1 [HSA:23418] [KO:K16681]
 (LCA9) NMNAT1 [HSA:64802] [KO:K06210]
 (LCA10) CEP290 [HSA:80184] [KO:K16533]
 (LCA11) IMPDH1 [HSA:3614] [KO:K00088]
 (LCA12) RD3 [HSA:343035] [KO:K25404]
 (LCA13) RDH12 [HSA:145226] [KO:K11153]
 (LCA14) LRAT [HSA:9227] [KO:K00678]
 (LCA15) TULP1 [HSA:7287] [KO:K19600]
 (LCA16) KCNJ13 [HSA:3769] [KO:K05006]
 (LCA17) GDF6 [HSA:392255] [KO:K20012]
 (LCA18) PRPH2 [HSA:5961] [KO:K17343]
 (LCA19) USP45 [HSA:85015] [KO:K11844]
 (LCAEOD) TUBB4B [HSA:10383] [KO:K07375]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D057130
 OMIM: 204000 204100 604232 604393 604537 613826 613829 613835 608553 611755 613837 610612 612712 613341 613843 614186 615360 608133 618513 617879","PMID:21705775
 著者        Liu MM, Tuo J, Chan CC
 タイトル      Republished review: Gene therapy for ocular diseases.
 雑誌        Postgrad Med J 87:487-95 (2011)
 DOI:10.1136/pgmj.2009.174912rep
 PMID:20301475 (LCA1-13)
 著者        Weleber RG, Francis PJ, Trzupek KM
 タイトル      Leber Congenital Amaurosis
 雑誌        GeneReviews (1993)
 PMID:20399883 (LCA2)
 著者        Cideciyan AV
 タイトル      Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
 雑誌        Prog Retin Eye Res 29:398-427 (2010)
 DOI:10.1016/j.preteyeres.2010.04.002
 PMID:22842230 (LCA9)
 著者        Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R
 タイトル      Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
 雑誌        Nat Genet 44:1035-9 (2012)
 DOI:10.1038/ng.2356
 PMID:22570351 (LCA14)
 著者        Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT
 タイトル      Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
 雑誌        Invest Ophthalmol Vis Sci 53:3927-38 (2012)
 DOI:10.1167/iovs.12-9548
 PMID:17962469 (LCA15)
 著者        Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL
 タイトル      Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
 雑誌        Invest Ophthalmol Vis Sci 48:5160-7 (2007)
 DOI:10.1167/iovs.06-1013
 PMID:21763485 (LCA16)
 著者        Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR
 タイトル      Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
 雑誌        Am J Hum Genet 89:183-90 (2011)
 DOI:10.1016/j.ajhg.2011.06.002
 PMID:30573563 (LCA19)
 著者        Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
 タイトル      Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
 雑誌        J Med Genet 56:325-331 (2019)
 DOI:10.1136/jmedgenet-2018-105709
 PMID:29198720 (LCAEOD)
 著者        Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I
 タイトル      Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
 雑誌        Am J Hum Genet 101:1006-1012 (2017)
 DOI:10.1016/j.ajhg.2017.10.010
 PMID:23307924 (LCA17)
 著者        Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ
 タイトル      Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
 雑誌        Hum Mol Genet 22:1432-42 (2013)
 DOI:10.1093/hmg/dds560
 PMID:23847139 (LCA18)
 著者        Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R
 タイトル      Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
 雑誌        J Med Genet 50:674-88 (2013)
 DOI:10.1136/jmedgenet-2013-101558","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00837"">H00837</a>","レーバー先天性黒内障
 下位グループ    早期発症の難聴を伴うレーバー先天性黒内障 (LCAEOD)","Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets.",,"(LCA1) GUCY2D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3000"">3000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12321"">K12321</a>]
 (LCA2) RPE65 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6121"">6121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11158"">K11158</a>]
 (LCA3) SPATA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55812"">55812</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19655"">K19655</a>]
 (LCA4) AIPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23746"">23746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17767"">K17767</a>]
 (LCA5) LCA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:167691"">167691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24828"">K24828</a>]
 (LCA6) RPGRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57096"">57096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16512"">K16512</a>]
 (LCA7) CRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1406"">1406</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09337"">K09337</a>]
 (LCA8) CRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23418"">23418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16681"">K16681</a>]
 (LCA9) NMNAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64802"">64802</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06210"">K06210</a>]
 (LCA10) CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]
 (LCA11) IMPDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3614"">3614</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00088"">K00088</a>]
 (LCA12) RD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:343035"">343035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25404"">K25404</a>]
 (LCA13) RDH12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:145226"">145226</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11153"">K11153</a>]
 (LCA14) LRAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9227"">9227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00678"">K00678</a>]
 (LCA15) TULP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7287"">7287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19600"">K19600</a>]
 (LCA16) KCNJ13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3769"">3769</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05006"">K05006</a>]
 (LCA17) GDF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:392255"">392255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20012"">K20012</a>]
 (LCA18) PRPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5961"">5961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17343"">K17343</a>]
 (LCA19) USP45 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85015"">85015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11844"">K11844</a>]
 (LCAEOD) TUBB4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10383"">10383</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057130"">D057130</a>
 OMIM: <a href=""https://www.omim.org/entry/204000"">204000</a> <a href=""https://www.omim.org/entry/204100"">204100</a> <a href=""https://www.omim.org/entry/604232"">604232</a> <a href=""https://www.omim.org/entry/604393"">604393</a> <a href=""https://www.omim.org/entry/604537"">604537</a> <a href=""https://www.omim.org/entry/613826"">613826</a> <a href=""https://www.omim.org/entry/613829"">613829</a> <a href=""https://www.omim.org/entry/613835"">613835</a> <a href=""https://www.omim.org/entry/608553"">608553</a> <a href=""https://www.omim.org/entry/611755"">611755</a> <a href=""https://www.omim.org/entry/613837"">613837</a> <a href=""https://www.omim.org/entry/610612"">610612</a> <a href=""https://www.omim.org/entry/612712"">612712</a> <a href=""https://www.omim.org/entry/613341"">613341</a> <a href=""https://www.omim.org/entry/613843"">613843</a> <a href=""https://www.omim.org/entry/614186"">614186</a> <a href=""https://www.omim.org/entry/615360"">615360</a> <a href=""https://www.omim.org/entry/608133"">608133</a> <a href=""https://www.omim.org/entry/618513"">618513</a> <a href=""https://www.omim.org/entry/617879"">617879</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21705775"">21705775</a>
 著者        Liu MM, Tuo J, Chan CC
 タイトル      Republished review: Gene therapy for ocular diseases.
 雑誌        Postgrad Med J 87:487-95 (2011)
 DOI:<a href=""https://doi.org/10.1136/pgmj.2009.174912rep"">10.1136/pgmj.2009.174912rep</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301475"">20301475</a> (LCA1-13)
 著者        Weleber RG, Francis PJ, Trzupek KM
 タイトル      Leber Congenital Amaurosis
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20399883"">20399883</a> (LCA2)
 著者        Cideciyan AV
 タイトル      Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
 雑誌        Prog Retin Eye Res 29:398-427 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.preteyeres.2010.04.002"">10.1016/j.preteyeres.2010.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22842230"">22842230</a> (LCA9)
 著者        Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R
 タイトル      Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
 雑誌        Nat Genet 44:1035-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2356"">10.1038/ng.2356</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22570351"">22570351</a> (LCA14)
 著者        Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT
 タイトル      Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
 雑誌        Invest Ophthalmol Vis Sci 53:3927-38 (2012)
 DOI:<a href=""https://doi.org/10.1167/iovs.12-9548"">10.1167/iovs.12-9548</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17962469"">17962469</a> (LCA15)
 著者        Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL
 タイトル      Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
 雑誌        Invest Ophthalmol Vis Sci 48:5160-7 (2007)
 DOI:<a href=""https://doi.org/10.1167/iovs.06-1013"">10.1167/iovs.06-1013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21763485"">21763485</a> (LCA16)
 著者        Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR
 タイトル      Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
 雑誌        Am J Hum Genet 89:183-90 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.002"">10.1016/j.ajhg.2011.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30573563"">30573563</a> (LCA19)
 著者        Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
 タイトル      Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
 雑誌        J Med Genet 56:325-331 (2019)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105709"">10.1136/jmedgenet-2018-105709</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29198720"">29198720</a> (LCAEOD)
 著者        Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I
 タイトル      Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
 雑誌        Am J Hum Genet 101:1006-1012 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.10.010"">10.1016/j.ajhg.2017.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23307924"">23307924</a> (LCA17)
 著者        Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ
 タイトル      Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
 雑誌        Hum Mol Genet 22:1432-42 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds560"">10.1093/hmg/dds560</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23847139"">23847139</a> (LCA18)
 著者        Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R
 タイトル      Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
 雑誌        J Med Genet 50:674-88 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101558"">10.1136/jmedgenet-2013-101558</a>"
H00838,先天性外眼筋線維症,,,"Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.",神経系疾患,,"(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185]
 (CFEOM2) PHOX2A [HSA:401] [KO:K09330]
 (CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
 (CFEOM5) COL25A1 [HSA:84570] [KO:K24356]",,,,,,"ICD-11: 9C82.2
 ICD-10: H49.8
 MeSH: C580012
 OMIM: 135700 602078 600638 616219","PMID:21217899
 著者        Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A
 タイトル      Congenital fibrosis of the extraocular muscles.
 雑誌        Oman J Ophthalmol 3:70-4 (2010)
 DOI:10.4103/0974-620X.64230
 PMID:18214786
 著者        Heidary G, Engle EC, Hunter DG
 タイトル      Congenital fibrosis of the extraocular muscles.
 雑誌        Semin Ophthalmol 23:3-8 (2008)
 DOI:10.1080/08820530701745181
 PMID:20074521
 著者        Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC
 タイトル      Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
 雑誌        Cell 140:74-87 (2010)
 DOI:10.1016/j.cell.2009.12.011
 PMID:25500261
 著者        Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N
 タイトル      Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
 雑誌        Am J Hum Genet 96:147-52 (2015)
 DOI:10.1016/j.ajhg.2014.11.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00838"">H00838</a>",先天性外眼筋線維症,"Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.",,"(CFEOM1, CFEOM3B) KIF21A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55605"">55605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24185"">K24185</a>]
 (CFEOM2) PHOX2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:401"">401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09330"">K09330</a>]
 (CFEOM3A) TUBB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10381"">10381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (CFEOM5) COL25A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84570"">84570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24356"">K24356</a>]",,,,,,"ICD-11: 9C82.2
 ICD-10: H49.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580012"">C580012</a>
 OMIM: <a href=""https://www.omim.org/entry/135700"">135700</a> <a href=""https://www.omim.org/entry/602078"">602078</a> <a href=""https://www.omim.org/entry/600638"">600638</a> <a href=""https://www.omim.org/entry/616219"">616219</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21217899"">21217899</a>
 著者        Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A
 タイトル      Congenital fibrosis of the extraocular muscles.
 雑誌        Oman J Ophthalmol 3:70-4 (2010)
 DOI:<a href=""https://doi.org/10.4103/0974-620X.64230"">10.4103/0974-620X.64230</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214786"">18214786</a>
 著者        Heidary G, Engle EC, Hunter DG
 タイトル      Congenital fibrosis of the extraocular muscles.
 雑誌        Semin Ophthalmol 23:3-8 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745181"">10.1080/08820530701745181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20074521"">20074521</a>
 著者        Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC
 タイトル      Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
 雑誌        Cell 140:74-87 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2009.12.011"">10.1016/j.cell.2009.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25500261"">25500261</a>
 著者        Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N
 タイトル      Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
 雑誌        Am J Hum Genet 96:147-52 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.11.006"">10.1016/j.ajhg.2014.11.006</a>"
H00839,"孔脳症
 上位グループ    脳小血管病 [DS:H00877]
 神経細胞移動異常症 [DS:H01835]",,,Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages.,先天奇形,,"COL4A1 [HSA:1282] [KO:K06237]
 COL4A2 [HSA:1284] [KO:K06237]",,,,,,"ICD-11: LA05.60
 ICD-10: Q04.6 G93.0
 MeSH: C536850
 OMIM: 175780 614483","PMID:20196853
 著者        Douzenis A, Rizos EN, Papadopoulou A, Papathanasiou M, Lykouras L
 タイトル      Porencephaly and psychosis: a case report and review of the literature.
 雑誌        BMC Psychiatry 10:19 (2010)
 DOI:10.1186/1471-244X-10-19
 PMID:21157337
 著者        Vahedi K, Alamowitch S
 タイトル      Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.
 雑誌        Curr Opin Neurol 24:63-8 (2011)
 DOI:10.1097/WCO.0b013e32834232c6
 PMID:16107487
 著者        Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
 タイトル      Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
 雑誌        J Med Genet 43:490-5 (2006)
 DOI:10.1136/jmg.2005.035584
 PMID:15905400
 著者        Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW
 タイトル      Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
 雑誌        Science 308:1167-71 (2005)
 DOI:10.1126/science.1109418
 PMID:22209246
 著者        Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H
 タイトル      De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly.
 雑誌        Am J Hum Genet 90:86-90 (2012)
 DOI:10.1016/j.ajhg.2011.11.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00839"">H00839</a>","孔脳症
 上位グループ    脳小血管病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00877"">H00877</a>]
 神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]",Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages.,,"COL4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1282"">1282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 COL4A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1284"">1284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]",,,,,,"ICD-11: LA05.60
 ICD-10: Q04.6 G93.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536850"">C536850</a>
 OMIM: <a href=""https://www.omim.org/entry/175780"">175780</a> <a href=""https://www.omim.org/entry/614483"">614483</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20196853"">20196853</a>
 著者        Douzenis A, Rizos EN, Papadopoulou A, Papathanasiou M, Lykouras L
 タイトル      Porencephaly and psychosis: a case report and review of the literature.
 雑誌        BMC Psychiatry 10:19 (2010)
 DOI:<a href=""https://doi.org/10.1186/1471-244X-10-19"">10.1186/1471-244X-10-19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21157337"">21157337</a>
 著者        Vahedi K, Alamowitch S
 タイトル      Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.
 雑誌        Curr Opin Neurol 24:63-8 (2011)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32834232c6"">10.1097/WCO.0b013e32834232c6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16107487"">16107487</a>
 著者        Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
 タイトル      Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
 雑誌        J Med Genet 43:490-5 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.035584"">10.1136/jmg.2005.035584</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15905400"">15905400</a>
 著者        Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW
 タイトル      Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
 雑誌        Science 308:1167-71 (2005)
 DOI:<a href=""https://doi.org/10.1126/science.1109418"">10.1126/science.1109418</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22209246"">22209246</a>
 著者        Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H
 タイトル      De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly.
 雑誌        Am J Hum Genet 90:86-90 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.016"">10.1016/j.ajhg.2011.11.016</a>"
H00840,"偽TORCH症候群
 下位グループ    帯様石灰化-単純脳回-多小脳回",,,"Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.",先天奇形,,"(PTORCH1) OCLN [HSA:100506658] [KO:K06088]
 (PTORCH2) USP18 [HSA:11274] [KO:K11846]
 (PTORCH3) STAT2 [HSA:6773] [KO:K11221]",,,,,,"ICD-11: LD20.2
 OMIM: 251290 617397 618886","PMID:20727516
 著者        O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
 タイトル      Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
 雑誌        Am J Hum Genet 87:354-64 (2010)
 DOI:10.1016/j.ajhg.2010.07.012
 PMID:19012351
 著者        Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ
 タイトル      Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct ""pseudo-TORCH"" phenotype.
 雑誌        Am J Med Genet A 146A:3173-80 (2008)
 DOI:10.1002/ajmg.a.32614
 PMID:27325888
 著者        Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM
 タイトル      Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
 雑誌        J Exp Med 213:1163-74 (2016)
 DOI:10.1084/jem.20151529
 PMID:31836668
 著者        Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA
 タイトル      Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
 雑誌        Sci Immunol 4:eaav7501 (2019)
 DOI:10.1126/sciimmunol.aav7501","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00840"">H00840</a>","偽TORCH症候群
 下位グループ    帯様石灰化-単純脳回-多小脳回","Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.",,"(PTORCH1) OCLN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100506658"">100506658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06088"">K06088</a>]
 (PTORCH2) USP18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11274"">11274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11846"">K11846</a>]
 (PTORCH3) STAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6773"">6773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11221"">K11221</a>]",,,,,,"ICD-11: LD20.2
 OMIM: <a href=""https://www.omim.org/entry/251290"">251290</a> <a href=""https://www.omim.org/entry/617397"">617397</a> <a href=""https://www.omim.org/entry/618886"">618886</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20727516"">20727516</a>
 著者        O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ
 タイトル      Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
 雑誌        Am J Hum Genet 87:354-64 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.07.012"">10.1016/j.ajhg.2010.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19012351"">19012351</a>
 著者        Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ
 タイトル      Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct ""pseudo-TORCH"" phenotype.
 雑誌        Am J Med Genet A 146A:3173-80 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32614"">10.1002/ajmg.a.32614</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27325888"">27325888</a>
 著者        Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM
 タイトル      Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
 雑誌        J Exp Med 213:1163-74 (2016)
 DOI:<a href=""https://doi.org/10.1084/jem.20151529"">10.1084/jem.20151529</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31836668"">31836668</a>
 著者        Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA
 タイトル      Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
 雑誌        Sci Immunol 4:eaav7501 (2019)
 DOI:<a href=""https://doi.org/10.1126/sciimmunol.aav7501"">10.1126/sciimmunol.aav7501</a>"
H00841,"小児進行性球麻痺
 下位グループ    Brown-Vialetto-Van Laere 症候群 [DS:H01903]
 Fazio-Londe 病",,,Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associated with sensorineural deafness. The same clinical presentation without deafness is also known as Fazio Londe disease. Both are caused by mutation in the RFT2 gene.,神経変性疾患,,RFT2 [HSA:113278] [KO:K14620],,,,,See also H01903 Brown-Vialetto-Van Laere syndrome.,"ICD-11: 8B60.Y
 ICD-10: G12.1 G12.2
 OMIM: 211500 211530","PMID:12427524
 著者        Voudris KA, Skardoutsou A, Vagiakou EA
 タイトル      Infantile progressive bulbar palsy with deafness.
 雑誌        Brain Dev 24:732-5 (2002)
 DOI:10.1016/S0387-7604(02)00085-2
 PMID:21110228
 著者        Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR
 タイトル      Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
 雑誌        J Inherit Metab Dis 34:159-64 (2011)
 DOI:10.1007/s10545-010-9242-z
 PMID:18416855
 著者        Sathasivam S
 タイトル      Brown-Vialetto-Van Laere syndrome.
 雑誌        Orphanet J Rare Dis 3:9 (2008)
 DOI:10.1186/1750-1172-3-9
 PMID:16122634
 著者        Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ
 タイトル      Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.
 雑誌        Brain Dev 27:443-6 (2005)
 DOI:10.1016/j.braindev.2004.10.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00841"">H00841</a>","小児進行性球麻痺
 下位グループ    Brown-Vialetto-Van Laere 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01903"">H01903</a>]
 Fazio-Londe 病",Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associated with sensorineural deafness. The same clinical presentation without deafness is also known as Fazio Londe disease. Both are caused by mutation in the RFT2 gene.,,"RFT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113278"">113278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14620"">K14620</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01903"">H01903</a> Brown-Vialetto-Van Laere syndrome.","ICD-11: 8B60.Y
 ICD-10: G12.1 G12.2
 OMIM: <a href=""https://www.omim.org/entry/211500"">211500</a> <a href=""https://www.omim.org/entry/211530"">211530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12427524"">12427524</a>
 著者        Voudris KA, Skardoutsou A, Vagiakou EA
 タイトル      Infantile progressive bulbar palsy with deafness.
 雑誌        Brain Dev 24:732-5 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0387-7604(02)00085-2"">10.1016/S0387-7604(02)00085-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21110228"">21110228</a>
 著者        Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR
 タイトル      Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
 雑誌        J Inherit Metab Dis 34:159-64 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10545-010-9242-z"">10.1007/s10545-010-9242-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18416855"">18416855</a>
 著者        Sathasivam S
 タイトル      Brown-Vialetto-Van Laere syndrome.
 雑誌        Orphanet J Rare Dis 3:9 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-9"">10.1186/1750-1172-3-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16122634"">16122634</a>
 著者        Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ
 タイトル      Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.
 雑誌        Brain Dev 27:443-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2004.10.003"">10.1016/j.braindev.2004.10.003</a>"
H00842,疣贅状表皮発育異常症,,,"Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous carcinomas.",皮膚疾患,,"(EV1) TMC6 [HSA:11322] [KO:K21988]
 (EV2) TMC8 [HSA:147138] [KO:K21988]
 (EV3) CIB1 [HSA:10519] [KO:K17259]
 (EV4) RHOH [HSA:399] [KO:K07873]
 (EV5) IL7 [HSA:3574] [KO:K05431]",,,,,,"ICD-11: 1E83
 MeSH: D004819
 OMIM: 226400 618231 618267 618307 618309","PMID:17910717
 著者        Gul U, Kilic A, Gonul M, Cakmak SK, Bayis SS
 タイトル      Clinical aspects of epidermodysplasia verruciformis and review of the literature.
 雑誌        Int J Dermatol 46:1069-72 (2007)
 DOI:10.1111/j.1365-4632.2006.03014.x
 PMID:18317036
 著者        Gewirtzman A, Bartlett B, Tyring S
 タイトル      Epidermodysplasia verruciformis and human papilloma virus.
 雑誌        Curr Opin Infect Dis 21:141-6 (2008)
 DOI:10.1097/QCO.0b013e3282f486c9
 PMID:21178278
 著者        Patel T, Morrison LK, Rady P, Tyring S
 タイトル      Epidermodysplasia verruciformis and susceptibility to HPV.
 雑誌        Dis Markers 29:199-206 (2010)
 DOI:10.3233/DMA-2010-0733
 PMID:30068544
 著者        de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL
 タイトル      The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses.
 雑誌        J Exp Med 215:2289-2310 (2018)
 DOI:10.1084/jem.20170308
 PMID:22850876
 著者        Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E
 タイトル      Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
 雑誌        J Clin Invest 122:3239-47 (2012)
 DOI:10.1172/JCI62949
 PMID:25981006
 著者        Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A
 タイトル      Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency.
 雑誌        J Am Acad Dermatol 72:1082-4 (2015)
 DOI:10.1016/j.jaad.2015.02.1118","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00842"">H00842</a>",疣贅状表皮発育異常症,"Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous carcinomas.",,"(EV1) TMC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11322"">11322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21988"">K21988</a>]
 (EV2) TMC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147138"">147138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21988"">K21988</a>]
 (EV3) CIB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10519"">10519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17259"">K17259</a>]
 (EV4) RHOH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:399"">399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07873"">K07873</a>]
 (EV5) IL7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3574"">3574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05431"">K05431</a>]",,,,,,"ICD-11: 1E83
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004819"">D004819</a>
 OMIM: <a href=""https://www.omim.org/entry/226400"">226400</a> <a href=""https://www.omim.org/entry/618231"">618231</a> <a href=""https://www.omim.org/entry/618267"">618267</a> <a href=""https://www.omim.org/entry/618307"">618307</a> <a href=""https://www.omim.org/entry/618309"">618309</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17910717"">17910717</a>
 著者        Gul U, Kilic A, Gonul M, Cakmak SK, Bayis SS
 タイトル      Clinical aspects of epidermodysplasia verruciformis and review of the literature.
 雑誌        Int J Dermatol 46:1069-72 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2006.03014.x"">10.1111/j.1365-4632.2006.03014.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18317036"">18317036</a>
 著者        Gewirtzman A, Bartlett B, Tyring S
 タイトル      Epidermodysplasia verruciformis and human papilloma virus.
 雑誌        Curr Opin Infect Dis 21:141-6 (2008)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3282f486c9"">10.1097/QCO.0b013e3282f486c9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21178278"">21178278</a>
 著者        Patel T, Morrison LK, Rady P, Tyring S
 タイトル      Epidermodysplasia verruciformis and susceptibility to HPV.
 雑誌        Dis Markers 29:199-206 (2010)
 DOI:<a href=""https://doi.org/10.3233/DMA-2010-0733"">10.3233/DMA-2010-0733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30068544"">30068544</a>
 著者        de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL
 タイトル      The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses.
 雑誌        J Exp Med 215:2289-2310 (2018)
 DOI:<a href=""https://doi.org/10.1084/jem.20170308"">10.1084/jem.20170308</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22850876"">22850876</a>
 著者        Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E
 タイトル      Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
 雑誌        J Clin Invest 122:3239-47 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI62949"">10.1172/JCI62949</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25981006"">25981006</a>
 著者        Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A
 タイトル      Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency.
 雑誌        J Am Acad Dermatol 72:1082-4 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2015.02.1118"">10.1016/j.jaad.2015.02.1118</a>"
H00843,ハートナップ病,,,"Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the neutral amino acid transporter B0AT1 (SLC6A19) in apical membrane.",先天性代謝異常症,,SLC6A19 [HSA:340024] [KO:K05334],,,,,,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: D006250
 OMIM: 234500","PMID:15681018
 著者        Kraut JA, Sachs G
 タイトル      Hartnup disorder: unraveling the mystery.
 雑誌        Trends Pharmacol Sci 26:53-5 (2005)
 DOI:10.1016/j.tips.2004.12.003
 PMID:19967017
 著者        Patel AB, Prabhu AS
 タイトル      Hartnup disease.
 雑誌        Indian J Dermatol 53:31-2 (2008)
 DOI:10.4103/0019-5154.39740
 PMID:19472175
 著者        Broer S
 タイトル      The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
 雑誌        IUBMB Life 61:591-9 (2009)
 DOI:10.1002/iub.210","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00843"">H00843</a>",ハートナップ病,"Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the neutral amino acid transporter B0AT1 (SLC6A19) in apical membrane.",,"SLC6A19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340024"">340024</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05334"">K05334</a>]",,,,,,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006250"">D006250</a>
 OMIM: <a href=""https://www.omim.org/entry/234500"">234500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15681018"">15681018</a>
 著者        Kraut JA, Sachs G
 タイトル      Hartnup disorder: unraveling the mystery.
 雑誌        Trends Pharmacol Sci 26:53-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.tips.2004.12.003"">10.1016/j.tips.2004.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19967017"">19967017</a>
 著者        Patel AB, Prabhu AS
 タイトル      Hartnup disease.
 雑誌        Indian J Dermatol 53:31-2 (2008)
 DOI:<a href=""https://doi.org/10.4103/0019-5154.39740"">10.4103/0019-5154.39740</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19472175"">19472175</a>
 著者        Broer S
 タイトル      The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
 雑誌        IUBMB Life 61:591-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/iub.210"">10.1002/iub.210</a>"
H00844,"家族性良性慢性天疱瘡;
 ヘイリー・ヘイリー病",,,"Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.",先天奇形,,ATP2C1 [HSA:27032] [KO:K01537],,,,"デキサメタゾンプロピオン酸エステル [DR:D01632]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]",,"ICD-11: EC20.2
 ICD-10: Q82.8
 MeSH: D016506
 OMIM: 169600","PMID:15149492
 著者        Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM
 タイトル      Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
 雑誌        Br J Dermatol 150:821-8 (2004)
 DOI:10.1111/j.1365-2133.2004.05904.x
 PMID:10615129
 著者        Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr
 タイトル      Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
 雑誌        Nat Genet 24:61-5 (2000)
 DOI:10.1038/71701
 PMID:26051060
 著者        Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y
 タイトル      Hailey-Hailey disease: A fold (intertriginous) dermatosis.
 雑誌        Clin Dermatol 33:452-5 (2015)
 DOI:10.1016/j.clindermatol.2015.04.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00844"">H00844</a>","家族性良性慢性天疱瘡;
 ヘイリー・ヘイリー病","Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.",,"ATP2C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27032"">27032</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01537"">K01537</a>]",,,,"デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]",,"ICD-11: EC20.2
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016506"">D016506</a>
 OMIM: <a href=""https://www.omim.org/entry/169600"">169600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15149492"">15149492</a>
 著者        Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM
 タイトル      Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
 雑誌        Br J Dermatol 150:821-8 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2004.05904.x"">10.1111/j.1365-2133.2004.05904.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10615129"">10615129</a>
 著者        Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr
 タイトル      Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
 雑誌        Nat Genet 24:61-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/71701"">10.1038/71701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26051060"">26051060</a>
 著者        Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y
 タイトル      Hailey-Hailey disease: A fold (intertriginous) dermatosis.
 雑誌        Clin Dermatol 33:452-5 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2015.04.006"">10.1016/j.clindermatol.2015.04.006</a>"
H00845,"家族性アミロイド症
 下位グループ    アミロイド症フィンランド型 [DS:H02322]",,,"The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy.",神経系疾患,,"TTR [HSA:7276] [KO:K20731]
 FGA [HSA:2243] [KO:K03903]
 APOA1 [HSA:335] [KO:K08757]
 LYZ [HSA:4069] [KO:K13915]
 B2M [HSA:567] [KO:K08055]",,,,"ドロキシドパ [DR:D01277]
 タファミジスメグルミン [DR:D09674]
 パチシランナトリウム [DR:D10794]
 タファミジス [DR:D09673]",,"ICD-11: 5D00.2
 ICD-10: E85
 MeSH: D028226
 OMIM: 105210 105200","PMID:16105087
 著者        Dember LM
 タイトル      Emerging treatment approaches for the systemic amyloidoses.
 雑誌        Kidney Int 68:1377-90 (2005)
 DOI:10.1111/j.1523-1755.2005.00535.x
 PMID:16009758
 著者        Ando Y, Nakamura M, Araki S
 タイトル      Transthyretin-related familial amyloidotic polyneuropathy.
 雑誌        Arch Neurol 62:1057-62 (2005)
 DOI:10.1001/archneur.62.7.1057
 PMID:8097946
 著者        Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R
 タイトル      Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.
 雑誌        Nat Genet 3:252-5 (1993)
 DOI:10.1038/ng0393-252
 PMID:9931341
 著者        Yamakawa-Kobayashi K, Yanagi H, Fukayama H, Hirano C, Shimakura Y, Yamamoto N, Arinami T, Tsuchiya S, Hamaguchi H
 タイトル      Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.
 雑誌        Hum Mol Genet 8:331-6 (1999)
 DOI:10.1093/hmg/8.2.331
 PMID:8464497
 著者        Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.
 タイトル      Human lysozyme gene mutations cause hereditary systemic amyloidosis.
 雑誌        Nature 362:553-7 (1993)
 DOI:10.1038/362553a0
 PMID:22693999
 著者        Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Plante-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V
 タイトル      Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin.
 雑誌        N Engl J Med 366:2276-83 (2012)
 DOI:10.1056/NEJMoa1201356","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00845"">H00845</a>","家族性アミロイド症
 下位グループ    アミロイド症フィンランド型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02322"">H02322</a>]","The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration that renders them avid for Congo red dye. In the familial amyloidoses, a gene mutation inherited in an autosomal-dominant manner results in a single amino acid substitution that renders a plasma protein amyloidogenic. Mutations in the TTR gene are the most common cause of familial amyloidosis. The clinical features of familial amyloidosis vary depending on the underlying amyloidogenic protein and the particular amino acid affected by the mutation, ranging from peripheral and autonomic neuropathy to cardiomyopathy.",,"TTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7276"">7276</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20731"">K20731</a>]
 FGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2243"">2243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03903"">K03903</a>]
 APOA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:335"">335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08757"">K08757</a>]
 LYZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4069"">4069</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13915"">K13915</a>]
 B2M [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:567"">567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08055"">K08055</a>]",,,,"ドロキシドパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01277"">D01277</a>]
 タファミジスメグルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09674"">D09674</a>]
 パチシランナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10794"">D10794</a>]
 タファミジス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09673"">D09673</a>]",,"ICD-11: 5D00.2
 ICD-10: E85
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D028226"">D028226</a>
 OMIM: <a href=""https://www.omim.org/entry/105210"">105210</a> <a href=""https://www.omim.org/entry/105200"">105200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16105087"">16105087</a>
 著者        Dember LM
 タイトル      Emerging treatment approaches for the systemic amyloidoses.
 雑誌        Kidney Int 68:1377-90 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1523-1755.2005.00535.x"">10.1111/j.1523-1755.2005.00535.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16009758"">16009758</a>
 著者        Ando Y, Nakamura M, Araki S
 タイトル      Transthyretin-related familial amyloidotic polyneuropathy.
 雑誌        Arch Neurol 62:1057-62 (2005)
 DOI:<a href=""https://doi.org/10.1001/archneur.62.7.1057"">10.1001/archneur.62.7.1057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8097946"">8097946</a>
 著者        Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R
 タイトル      Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.
 雑誌        Nat Genet 3:252-5 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng0393-252"">10.1038/ng0393-252</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9931341"">9931341</a>
 著者        Yamakawa-Kobayashi K, Yanagi H, Fukayama H, Hirano C, Shimakura Y, Yamamoto N, Arinami T, Tsuchiya S, Hamaguchi H
 タイトル      Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.
 雑誌        Hum Mol Genet 8:331-6 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.2.331"">10.1093/hmg/8.2.331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8464497"">8464497</a>
 著者        Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.
 タイトル      Human lysozyme gene mutations cause hereditary systemic amyloidosis.
 雑誌        Nature 362:553-7 (1993)
 DOI:<a href=""https://doi.org/10.1038/362553a0"">10.1038/362553a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22693999"">22693999</a>
 著者        Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Plante-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V
 タイトル      Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin.
 雑誌        N Engl J Med 366:2276-83 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1201356"">10.1056/NEJMoa1201356</a>"
H00846,Fuhrmann 症候群,,,"Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.",先天奇形,,WNT7A [HSA:7476] [KO:K00572],,,,,,"ICD-11: LD26.Y
 ICD-10: Q74.8
 MeSH: C538189
 OMIM: 228930","PMID:1785629
 著者        Lipson AH, Kozlowski K, Barylak A, Marsden W
 タイトル      Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
 雑誌        Am J Med Genet 41:176-9 (1991)
 DOI:10.1002/ajmg.1320410208
 PMID:7363910
 著者        Fuhrmann W, Fuhrmann-Rieger A, de Sousa F
 タイトル      Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.
 雑誌        Eur J Pediatr 133:123-9 (1980)
 DOI:10.1007/BF00441580
 PMID:16826533
 著者        Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
 タイトル      Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
 雑誌        Am J Hum Genet 79:402-8 (2006)
 DOI:10.1086/506332","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00846"">H00846</a>",Fuhrmann 症候群,"Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.",,"WNT7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7476"">7476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00572"">K00572</a>]",,,,,,"ICD-11: LD26.Y
 ICD-10: Q74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538189"">C538189</a>
 OMIM: <a href=""https://www.omim.org/entry/228930"">228930</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1785629"">1785629</a>
 著者        Lipson AH, Kozlowski K, Barylak A, Marsden W
 タイトル      Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
 雑誌        Am J Med Genet 41:176-9 (1991)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320410208"">10.1002/ajmg.1320410208</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7363910"">7363910</a>
 著者        Fuhrmann W, Fuhrmann-Rieger A, de Sousa F
 タイトル      Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.
 雑誌        Eur J Pediatr 133:123-9 (1980)
 DOI:<a href=""https://doi.org/10.1007/BF00441580"">10.1007/BF00441580</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826533"">16826533</a>
 著者        Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
 タイトル      Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
 雑誌        Am J Hum Genet 79:402-8 (2006)
 DOI:<a href=""https://doi.org/10.1086/506332"">10.1086/506332</a>"
H00847,Al-Awadi/Raas-Rothschild 症候群,,,"Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.",先天奇形,,WNT7A [HSA:7476] [KO:K00572],,,,,,"ICD-11: LD26.Y
 ICD-10: Q87.2
 MeSH: C535612
 OMIM: 276820","PMID:8423611
 著者        Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S
 タイトル      Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
 雑誌        J Med Genet 30:65-9 (1993)
 DOI:10.1136/jmg.30.1.65
 PMID:16826533
 著者        Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
 タイトル      Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
 雑誌        Am J Hum Genet 79:402-8 (2006)
 DOI:10.1086/506332
 PMID:21271649
 著者        Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A
 タイトル      Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
 雑誌        Am J Med Genet A 155A:332-6 (2011)
 DOI:10.1002/ajmg.a.33793","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00847"">H00847</a>",Al-Awadi/Raas-Rothschild 症候群,"Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.",,"WNT7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7476"">7476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00572"">K00572</a>]",,,,,,"ICD-11: LD26.Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535612"">C535612</a>
 OMIM: <a href=""https://www.omim.org/entry/276820"">276820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8423611"">8423611</a>
 著者        Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S
 タイトル      Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
 雑誌        J Med Genet 30:65-9 (1993)
 DOI:<a href=""https://doi.org/10.1136/jmg.30.1.65"">10.1136/jmg.30.1.65</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826533"">16826533</a>
 著者        Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
 タイトル      Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
 雑誌        Am J Hum Genet 79:402-8 (2006)
 DOI:<a href=""https://doi.org/10.1086/506332"">10.1086/506332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21271649"">21271649</a>
 著者        Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A
 タイトル      Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
 雑誌        Am J Med Genet A 155A:332-6 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33793"">10.1002/ajmg.a.33793</a>"
H00848,"眼球運動失行を伴う失調症
 下位グループ    毛細血管拡張性運動失調症 [DS:H00064]
 上位グループ    脊髄小脳変性症 [DS:H01616]",,,"Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2). AT, ATLD, and AOA1 are due to homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which has been shown to play a role in the response to oxidative stress.",神経系疾患,,"(AOA1) APTX [HSA:54840] [KO:K10863]
 (AOA2) SETX [HSA:23064] [KO:K10706]
 (AOA3) PIK3R5 [HSA:23533] [KO:K21290]
 (AOA4) PNKP [HSA:11284] [KO:K08073]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.3 G60.2
 MeSH: C538013
 OMIM: 208920 606002 615217 616267","PMID:21324166
 著者        Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA
 タイトル      Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
 雑誌        BMC Med Genet 12:27 (2011)
 DOI:10.1186/1471-2350-12-27
 PMID:17572444 (AOA1)
 著者        Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM
 タイトル      A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
 雑誌        J Neurol Sci 260:219-24 (2007)
 DOI:10.1016/j.jns.2007.05.015
 PMID:19515850 (AOA2)
 著者        Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF
 タイトル      Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
 雑誌        Hum Mol Genet 18:3384-96 (2009)
 DOI:10.1093/hmg/ddp278
 PMID:22065524 (AOA3)
 著者        Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
 タイトル      A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
 雑誌        Hum Mutat 33:351-4 (2012)
 DOI:10.1002/humu.21650
 PMID:25728773 (AOA4)
 著者        Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R
 タイトル      Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
 雑誌        Am J Hum Genet 96:474-9 (2015)
 DOI:10.1016/j.ajhg.2015.01.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00848"">H00848</a>","眼球運動失行を伴う失調症
 下位グループ    毛細血管拡張性運動失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00064"">H00064</a>]
 上位グループ    脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2). AT, ATLD, and AOA1 are due to homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which has been shown to play a role in the response to oxidative stress.",,"(AOA1) APTX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54840"">54840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10863"">K10863</a>]
 (AOA2) SETX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23064"">23064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10706"">K10706</a>]
 (AOA3) PIK3R5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23533"">23533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21290"">K21290</a>]
 (AOA4) PNKP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11284"">11284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08073"">K08073</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.3 G60.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538013"">C538013</a>
 OMIM: <a href=""https://www.omim.org/entry/208920"">208920</a> <a href=""https://www.omim.org/entry/606002"">606002</a> <a href=""https://www.omim.org/entry/615217"">615217</a> <a href=""https://www.omim.org/entry/616267"">616267</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21324166"">21324166</a>
 著者        Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA
 タイトル      Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
 雑誌        BMC Med Genet 12:27 (2011)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-12-27"">10.1186/1471-2350-12-27</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17572444"">17572444</a> (AOA1)
 著者        Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM
 タイトル      A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
 雑誌        J Neurol Sci 260:219-24 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2007.05.015"">10.1016/j.jns.2007.05.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19515850"">19515850</a> (AOA2)
 著者        Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF
 タイトル      Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
 雑誌        Hum Mol Genet 18:3384-96 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp278"">10.1093/hmg/ddp278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22065524"">22065524</a> (AOA3)
 著者        Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
 タイトル      A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
 雑誌        Hum Mutat 33:351-4 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21650"">10.1002/humu.21650</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25728773"">25728773</a> (AOA4)
 著者        Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R
 タイトル      Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
 雑誌        Am J Hum Genet 96:474-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.005"">10.1016/j.ajhg.2015.01.005</a>"
H00849,"脳クレアチン欠乏症候群
 下位グループ    X連鎖性クレアチン欠乏症候群 [DS:H02196]
 グアニジノ酢酸メチルトランスフェラーゼ欠損症 [DS:H00834]
 アルギニン-グリシンアミジノトランスフェラーゼ欠損症",,,"Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner.",先天性代謝異常症,,"(CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
 (CCDS2) GAMT [HSA:2593] [KO:K00542]
 (CCDS3) GATM [HSA:2628] [KO:K00613]",,,,,,"ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: C535598 C567192 C537622
 OMIM: 300352 612736 612718","PMID:19879361
 著者        Braissant O, Beard E, Torrent C, Henry H
 タイトル      Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
 雑誌        Neurobiol Dis 37:423-33 (2010)
 DOI:10.1016/j.nbd.2009.10.022
 PMID:20301745
 著者        Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS
 タイトル      Creatine Deficiency Syndromes
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00849"">H00849</a>","脳クレアチン欠乏症候群
 下位グループ    X連鎖性クレアチン欠乏症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02196"">H02196</a>]
 グアニジノ酢酸メチルトランスフェラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00834"">H00834</a>]
 アルギニン-グリシンアミジノトランスフェラーゼ欠損症","Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner.",,"(CCDS1) SLC6A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6535"">6535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05041"">K05041</a>]
 (CCDS2) GAMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2593"">2593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00542"">K00542</a>]
 (CCDS3) GATM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2628"">2628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00613"">K00613</a>]",,,,,,"ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535598"">C535598</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567192"">C567192</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537622"">C537622</a>
 OMIM: <a href=""https://www.omim.org/entry/300352"">300352</a> <a href=""https://www.omim.org/entry/612736"">612736</a> <a href=""https://www.omim.org/entry/612718"">612718</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19879361"">19879361</a>
 著者        Braissant O, Beard E, Torrent C, Henry H
 タイトル      Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
 雑誌        Neurobiol Dis 37:423-33 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2009.10.022"">10.1016/j.nbd.2009.10.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301745"">20301745</a>
 著者        Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS
 タイトル      Creatine Deficiency Syndromes
 雑誌        GeneReviews (1993)"
H00850,"Frontorhiny;
 正中顔面裂症候群;
 前頭鼻異形成 1型
 上位グループ    前頭鼻異形成 [DS:H00528]",,,"Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder is caused by disturbed developmental sequence between 4 and 8 weeks in which formation of the face takes place.",先天奇形,,ALX3 [HSA:257] [KO:K09323],,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: C538065
 OMIM: 136760","PMID:19409524
 著者        Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO
 タイトル      Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
 雑誌        Am J Hum Genet 84:698-705 (2009)
 DOI:10.1016/j.ajhg.2009.04.009
 PMID:22106187
 著者        Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT
 タイトル      Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management.
 雑誌        Arch Facial Plast Surg 13:415-20 (2011)
 DOI:10.1001/archfacial.2011.684","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00850"">H00850</a>","Frontorhiny;
 正中顔面裂症候群;
 前頭鼻異形成 1型
 上位グループ    前頭鼻異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00528"">H00528</a>]","Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder is caused by disturbed developmental sequence between 4 and 8 weeks in which formation of the face takes place.",,"ALX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:257"">257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09323"">K09323</a>]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538065"">C538065</a>
 OMIM: <a href=""https://www.omim.org/entry/136760"">136760</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19409524"">19409524</a>
 著者        Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO
 タイトル      Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
 雑誌        Am J Hum Genet 84:698-705 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.009"">10.1016/j.ajhg.2009.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22106187"">22106187</a>
 著者        Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT
 タイトル      Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management.
 雑誌        Arch Facial Plast Surg 13:415-20 (2011)
 DOI:<a href=""https://doi.org/10.1001/archfacial.2011.684"">10.1001/archfacial.2011.684</a>"
H00851,近位指趾関節癒合症,,,Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints.,先天奇形,,"(SYM1A) NOG [HSA:9241] [KO:K04658]
 (SYM1B) GDF5 [HSA:8200] [KO:K04664]",,,,,,"ICD-11: LB90.Y
 ICD-10: Q70.9
 MeSH: C536223
 OMIM: 185800 615298","PMID:18283415
 著者        Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WH, Luo Y, Zhang X
 タイトル      Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
 雑誌        J Hum Genet 53:368-74 (2008)
 DOI:10.1007/s10038-008-0253-7
 PMID:10080184
 著者        Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML
 タイトル      Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
 雑誌        Nat Genet 21:302-4 (1999)
 DOI:10.1038/6821
 PMID:17994231
 著者        Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB
 タイトル      Cushing proximal symphalangism and the NOG and GDF5 genes.
 雑誌        Pediatr Radiol 38:209-15 (2008)
 DOI:10.1007/s00247-007-0675-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00851"">H00851</a>",近位指趾関節癒合症,Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints.,,"(SYM1A) NOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9241"">9241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04658"">K04658</a>]
 (SYM1B) GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]",,,,,,"ICD-11: LB90.Y
 ICD-10: Q70.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536223"">C536223</a>
 OMIM: <a href=""https://www.omim.org/entry/185800"">185800</a> <a href=""https://www.omim.org/entry/615298"">615298</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18283415"">18283415</a>
 著者        Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WH, Luo Y, Zhang X
 タイトル      Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
 雑誌        J Hum Genet 53:368-74 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10038-008-0253-7"">10.1007/s10038-008-0253-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10080184"">10080184</a>
 著者        Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML
 タイトル      Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
 雑誌        Nat Genet 21:302-4 (1999)
 DOI:<a href=""https://doi.org/10.1038/6821"">10.1038/6821</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994231"">17994231</a>
 著者        Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB
 タイトル      Cushing proximal symphalangism and the NOG and GDF5 genes.
 雑誌        Pediatr Radiol 38:209-15 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00247-007-0675-y"">10.1007/s00247-007-0675-y</a>"
H00852,Klippel-Feil 症候群,,,"Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.",先天奇形,,"(KFS1) GDF6 [HSA:392255] [KO:K20012]
 (KFS2) MEOX1 [HSA:4222] [KO:K09322]
 (KFS3) GDF3 [HSA:9573] [KO:K22672]
 (KFS4) MYO18B [HSA:84700] [KO:K10362]",,,,,,"ICD-11: LB73.20
 ICD-10: Q76.1
 MeSH: D007714
 OMIM: 118100 214300 613702 616549","PMID:1610048
 著者        Smith BA, Griffin C
 タイトル      Klippel-Feil syndrome.
 雑誌        Ann Emerg Med 21:876-9 (1992)
 DOI:10.1016/S0196-0644(05)81038-8
 PMID:12968241
 著者        Farid IS, Omar OA, Insler SR
 タイトル      Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery.
 雑誌        J Cardiothorac Vasc Anesth 17:502-5 (2003)
 DOI:10.1016/S1053-0770(03)00159-9
 PMID:18425797
 著者        Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA
 タイトル      Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
 雑誌        Hum Mutat 29:1017-27 (2008)
 DOI:10.1002/humu.20741
 PMID:19864492
 著者        Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ
 タイトル      Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
 雑誌        Hum Mol Genet 19:287-98 (2010)
 DOI:10.1093/hmg/ddp496
 PMID:24073994
 著者        Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ
 タイトル      Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.
 雑誌        BMC Genet 14:95 (2013)
 DOI:10.1186/1471-2156-14-95
 PMID:25748484
 著者        Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS
 タイトル      A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
 雑誌        J Med Genet 52:400-4 (2015)
 DOI:10.1136/jmedgenet-2014-102964","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00852"">H00852</a>",Klippel-Feil 症候群,"Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.",,"(KFS1) GDF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:392255"">392255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20012"">K20012</a>]
 (KFS2) MEOX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4222"">4222</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09322"">K09322</a>]
 (KFS3) GDF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9573"">9573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22672"">K22672</a>]
 (KFS4) MYO18B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84700"">84700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10362"">K10362</a>]",,,,,,"ICD-11: LB73.20
 ICD-10: Q76.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007714"">D007714</a>
 OMIM: <a href=""https://www.omim.org/entry/118100"">118100</a> <a href=""https://www.omim.org/entry/214300"">214300</a> <a href=""https://www.omim.org/entry/613702"">613702</a> <a href=""https://www.omim.org/entry/616549"">616549</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1610048"">1610048</a>
 著者        Smith BA, Griffin C
 タイトル      Klippel-Feil syndrome.
 雑誌        Ann Emerg Med 21:876-9 (1992)
 DOI:<a href=""https://doi.org/10.1016/S0196-0644(05)81038-8"">10.1016/S0196-0644(05)81038-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12968241"">12968241</a>
 著者        Farid IS, Omar OA, Insler SR
 タイトル      Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery.
 雑誌        J Cardiothorac Vasc Anesth 17:502-5 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1053-0770(03)00159-9"">10.1016/S1053-0770(03)00159-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18425797"">18425797</a>
 著者        Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA
 タイトル      Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
 雑誌        Hum Mutat 29:1017-27 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.20741"">10.1002/humu.20741</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19864492"">19864492</a>
 著者        Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ
 タイトル      Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
 雑誌        Hum Mol Genet 19:287-98 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp496"">10.1093/hmg/ddp496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24073994"">24073994</a>
 著者        Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ
 タイトル      Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.
 雑誌        BMC Genet 14:95 (2013)
 DOI:<a href=""https://doi.org/10.1186/1471-2156-14-95"">10.1186/1471-2156-14-95</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25748484"">25748484</a>
 著者        Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS
 タイトル      A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
 雑誌        J Med Genet 52:400-4 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102964"">10.1136/jmedgenet-2014-102964</a>"
H00853,Cenani-Lenz合指症候群,,,"Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling.",先天奇形,,LRP4 [HSA:4038] [KO:K20051],,,,,,"ICD-10: Q78.4
 MeSH: C538150
 OMIM: 212780","PMID:20381006
 著者        Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B
 タイトル      LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
 雑誌        Am J Hum Genet 86:696-706 (2010)
 DOI:10.1016/j.ajhg.2010.03.004
 PMID:20454682
 著者        Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
 タイトル      Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome.
 雑誌        PLoS One 5:e10418 (2010)
 DOI:10.1371/journal.pone.0010418","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00853"">H00853</a>",Cenani-Lenz合指症候群,"Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling.",,"LRP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4038"">4038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20051"">K20051</a>]",,,,,,"ICD-10: Q78.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538150"">C538150</a>
 OMIM: <a href=""https://www.omim.org/entry/212780"">212780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20381006"">20381006</a>
 著者        Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B
 タイトル      LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
 雑誌        Am J Hum Genet 86:696-706 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.03.004"">10.1016/j.ajhg.2010.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20454682"">20454682</a>
 著者        Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
 タイトル      Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome.
 雑誌        PLoS One 5:e10418 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0010418"">10.1371/journal.pone.0010418</a>"
H00854,ウォルフラム症候群,,,"Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum.",内分泌代謝疾患,,"(WFS1) WFS1 [HSA:7466] [KO:K14020]
 (WFS2) CISD2 [HSA:493856] [KO:K23882]",,,,,,"ICD-11: 5A61.5
 ICD-10: E13.8
 MeSH: D014929
 OMIM: 222300 604928","PMID:15070927
 著者        Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G
 タイトル      Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
 雑誌        J Clin Endocrinol Metab 89:1656-61 (2004)
 DOI:10.1210/jc.2002-030015
 PMID:20649540
 著者        Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF
 タイトル      A role for the CISD2 gene in lifespan control and human disease.
 雑誌        Ann N Y Acad Sci 1201:58-64 (2010)
 DOI:10.1111/j.1749-6632.2010.05619.x
 PMID:20738327
 著者        Rigoli L, Lombardo F, Di Bella C
 タイトル      Wolfram syndrome and WFS1 gene.
 雑誌        Clin Genet 79:103-17 (2011)
 DOI:10.1111/j.1399-0004.2010.01522.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00854"">H00854</a>",ウォルフラム症候群,"Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum.",,"(WFS1) WFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7466"">7466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14020"">K14020</a>]
 (WFS2) CISD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:493856"">493856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23882"">K23882</a>]",,,,,,"ICD-11: 5A61.5
 ICD-10: E13.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014929"">D014929</a>
 OMIM: <a href=""https://www.omim.org/entry/222300"">222300</a> <a href=""https://www.omim.org/entry/604928"">604928</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15070927"">15070927</a>
 著者        Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G
 タイトル      Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
 雑誌        J Clin Endocrinol Metab 89:1656-61 (2004)
 DOI:<a href=""https://doi.org/10.1210/jc.2002-030015"">10.1210/jc.2002-030015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20649540"">20649540</a>
 著者        Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF
 タイトル      A role for the CISD2 gene in lifespan control and human disease.
 雑誌        Ann N Y Acad Sci 1201:58-64 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05619.x"">10.1111/j.1749-6632.2010.05619.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20738327"">20738327</a>
 著者        Rigoli L, Lombardo F, Di Bella C
 タイトル      Wolfram syndrome and WFS1 gene.
 雑誌        Clin Genet 79:103-17 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01522.x"">10.1111/j.1399-0004.2010.01522.x</a>"
H00855,3節母指・多合指症候群,,,"Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects such as triphalangeal thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development.",先天奇形,,LMBR1 (mutation in intron 5) [HSA:64327] [KO:K25217],,,,,,"ICD-11: LD26.2
 ICD-10: Q74.0
 MeSH: C573898
 OMIM: 174500","PMID:16424565
 著者        Jain V
 タイトル      Bilateral triphalangeal thumbs.
 雑誌        Indian Pediatr 42:1246-7 (2005)
 PMID:17300748
 著者        Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X
 タイトル      A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
 雑誌        Biochem Biophys Res Commun 355:312-7 (2007)
 DOI:10.1016/j.bbrc.2007.01.129
 PMID:20068592
 著者        Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman S, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW
 タイトル      Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
 雑誌        Eur J Hum Genet 18:733-6 (2010)
 DOI:10.1038/ejhg.2009.225
 PMID:12837695
 著者        Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E
 タイトル      A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
 雑誌        Hum Mol Genet 12:1725-35 (2003)
 DOI:10.1093/hmg/ddg180
 PMID:21342803
 著者        Gosk J, Rutowski R, Urban M, Koszewicz M, Moron K
 タイトル      Rare triphalangeal thumb polydactyly: a case report.
 雑誌        J Plast Reconstr Aesthet Surg 64:e165-6 (2011)
 DOI:10.1016/j.bjps.2011.01.011
 PMID:10869115
 著者        Kantaputra PN, Chalidapong P
 タイトル      Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
 雑誌        Am J Med Genet 93:126-31 (2000)
 DOI:10.1002/1096-8628(20000717)93:2<126::AID-AJMG9>3.0.CO;2-S","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00855"">H00855</a>",3節母指・多合指症候群,"Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects such as triphalangeal thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development.",,"LMBR1 (mutation in intron 5) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64327"">64327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25217"">K25217</a>]",,,,,,"ICD-11: LD26.2
 ICD-10: Q74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C573898"">C573898</a>
 OMIM: <a href=""https://www.omim.org/entry/174500"">174500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16424565"">16424565</a>
 著者        Jain V
 タイトル      Bilateral triphalangeal thumbs.
 雑誌        Indian Pediatr 42:1246-7 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17300748"">17300748</a>
 著者        Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X
 タイトル      A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
 雑誌        Biochem Biophys Res Commun 355:312-7 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2007.01.129"">10.1016/j.bbrc.2007.01.129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20068592"">20068592</a>
 著者        Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman S, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW
 タイトル      Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
 雑誌        Eur J Hum Genet 18:733-6 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.225"">10.1038/ejhg.2009.225</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12837695"">12837695</a>
 著者        Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E
 タイトル      A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
 雑誌        Hum Mol Genet 12:1725-35 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg180"">10.1093/hmg/ddg180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21342803"">21342803</a>
 著者        Gosk J, Rutowski R, Urban M, Koszewicz M, Moron K
 タイトル      Rare triphalangeal thumb polydactyly: a case report.
 雑誌        J Plast Reconstr Aesthet Surg 64:e165-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.bjps.2011.01.011"">10.1016/j.bjps.2011.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10869115"">10869115</a>
 著者        Kantaputra PN, Chalidapong P
 タイトル      Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
 雑誌        Am J Med Genet 93:126-31 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(20000717)93:"">10.1002/1096-8628(20000717)93:</a><a href=""https://doi.org/2<126:"">2<126:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG9>3.0.CO;2-S"">AID-AJMG9>3.0.CO;2-S</a>"
H00856,"遠位遺伝性運動ニューロパチー
 下位グループ    遠位脊髄性筋萎縮症 (DSMA)",,,"Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions. Distal HMN are classified into phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features.",神経系疾患,,"(HMN2A) HSPB8 [HSA:26353] [KO:K08879]
 (HMN2B) HSPB1 [HSA:3315] [KO:K04455]
 (HMN2C) HSPB3 [HSA:8988] [KO:K09544]
 (HMN2D) FBXO38 [HSA:81545] [KO:K10313]
 (HMN5A) GARS [HSA:2617] [KO:K01880]
 (HMN5A) BSCL2 [HSA:26580] [KO:K19365]
 (HMN5B) REEP1 [HSA:65055] [KO:K17338]
 (HMN6/DSMA1) IGHMBP2 [HSA:3508] [KO:K19036]
 (HMN7A) SLC5A7 [HSA:60482] [KO:K14387]
 (HMN7B) DCTN1 [HSA:1639] [KO:K04648]
 (HMN8) TRPV4 [HSA:59341] [KO:K04973]
 (HMN9) WARS1 [HSA:7453] [KO:K01867]
 (DSMA2) SIGMAR1 [HSA:10280] [KO:K20719]
 (DSMA4) PLEKHG5 [HSA:57449] [KO:K19464]
 (DSMA5) DNAJB2 [HSA:3300] [KO:K09508]
 (DSMAX) ATP7A [HSA:538] [KO:K17686]",,,,,"Autosomal dominant inheritance include distal HMN1 and 2, characterized by juvenile and adult onset, respectively; HMN5, characterized by upper limb involvement; HMN7, with vocal cord paralysis; and HMN8. HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN.
 See also H00455 Spinal muscular atrophy (SMA).","ICD-11: 8B61.4
 ICD-10: G12.1 G12.2
 MeSH: D009134
 OMIM: 182960 158590 608634 613376 615575 600794 614751 604320 158580 607641 600175 617721 605726 611067 614881 300489","PMID:22028385
 著者        Rossor AM, Kalmar B, Greensmith L, Reilly MM
 タイトル      The distal hereditary motor neuropathies.
 雑誌        J Neurol Neurosurg Psychiatry 83:6-14 (2012)
 DOI:10.1136/jnnp-2011-300952
 PMID:19917815
 著者        Reilly MM, Shy ME
 タイトル      Diagnosis and new treatments in genetic neuropathies.
 雑誌        J Neurol Neurosurg Psychiatry 80:1304-14 (2009)
 DOI:10.1136/jnnp.2008.158295
 PMID:24207122
 著者        Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Zuchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H
 タイトル      A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
 雑誌        Am J Hum Genet 93:976-83 (2013)
 DOI:10.1016/j.ajhg.2013.10.006
 PMID:22703882
 著者        Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M
 タイトル      Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
 雑誌        Am J Hum Genet 91:139-45 (2012)
 DOI:10.1016/j.ajhg.2012.05.007
 PMID:23141292
 著者        Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH
 タイトル      Defective presynaptic choline transport underlies hereditary motor neuropathy.
 雑誌        Am J Hum Genet 91:1103-7 (2012)
 DOI:10.1016/j.ajhg.2012.09.019
 PMID:26078401
 著者        Li X, Hu Z, Liu L, Xie Y, Zhan Y, Zi X, Wang J, Wu L, Xia K, Tang B, Zhang R
 タイトル      A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
 雑誌        Neurology 84:2430-7 (2015)
 DOI:10.1212/WNL.0000000000001680
 PMID:17564964
 著者        Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C
 タイトル      The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
 雑誌        Am J Hum Genet 81:67-76 (2007)
 DOI:10.1086/518900
 PMID:22522442
 著者        Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L
 タイトル      A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
 雑誌        Ann Neurol 71:509-19 (2012)
 DOI:10.1002/ana.22684
 PMID:20170900
 著者        Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY
 タイトル      Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
 雑誌        Am J Hum Genet 86:343-52 (2010)
 DOI:10.1016/j.ajhg.2010.01.027
 PMID:28369220
 著者        Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Zuchner S, Baets J, Lee YC
 タイトル      A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
 雑誌        Brain 140:1252-1266 (2017)
 DOI:10.1093/brain/awx058","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00856"">H00856</a>","遠位遺伝性運動ニューロパチー
 下位グループ    遠位脊髄性筋萎縮症 (DSMA)","Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>] and with juvenile forms of amyotrophic lateral sclerosis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00058"">H00058</a>] and hereditary spastic paraplegia [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00266]."">H00266].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:causative"">causative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:genes"">genes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autosomal"">autosomal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dominant,"">dominant,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:recessive,"">recessive,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patterns"">patterns</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inheritance"">inheritance</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:implicated"">implicated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:proteins"">proteins</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diverse"">diverse</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:functions."">functions.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Distal"">Distal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HMN"">HMN</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:classified"">classified</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:into"">into</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenotypic"">phenotypic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:subtypes"">subtypes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:according"">according</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:age"">age</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:at"">at</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:onset,"">onset,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mode"">mode</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inheritance,"">inheritance,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:presence"">presence</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:additional"">additional</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:features."">features.</a>",,"(HMN2A) HSPB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26353"">26353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08879"">K08879</a>]
 (HMN2B) HSPB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3315"">3315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04455"">K04455</a>]
 (HMN2C) HSPB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8988"">8988</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09544"">K09544</a>]
 (HMN2D) FBXO38 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81545"">81545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10313"">K10313</a>]
 (HMN5A) GARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2617"">2617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01880"">K01880</a>]
 (HMN5A) BSCL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26580"">26580</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19365"">K19365</a>]
 (HMN5B) REEP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65055"">65055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17338"">K17338</a>]
 (HMN6/DSMA1) IGHMBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3508"">3508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19036"">K19036</a>]
 (HMN7A) SLC5A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60482"">60482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14387"">K14387</a>]
 (HMN7B) DCTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1639"">1639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04648"">K04648</a>]
 (HMN8) TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]
 (HMN9) WARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7453"">7453</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01867"">K01867</a>]
 (DSMA2) SIGMAR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10280"">10280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20719"">K20719</a>]
 (DSMA4) PLEKHG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57449"">57449</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19464"">K19464</a>]
 (DSMA5) DNAJB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3300"">3300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09508"">K09508</a>]
 (DSMAX) ATP7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:538"">538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17686"">K17686</a>]",,,,,"Autosomal dominant inheritance include distal HMN1 and 2, characterized by juvenile and adult onset, respectively; HMN5, characterized by upper limb involvement; HMN7, with vocal cord paralysis; and HMN8. HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00455"">H00455</a> Spinal muscular atrophy (SMA).","ICD-11: 8B61.4
 ICD-10: G12.1 G12.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009134"">D009134</a>
 OMIM: <a href=""https://www.omim.org/entry/182960"">182960</a> <a href=""https://www.omim.org/entry/158590"">158590</a> <a href=""https://www.omim.org/entry/608634"">608634</a> <a href=""https://www.omim.org/entry/613376"">613376</a> <a href=""https://www.omim.org/entry/615575"">615575</a> <a href=""https://www.omim.org/entry/600794"">600794</a> <a href=""https://www.omim.org/entry/614751"">614751</a> <a href=""https://www.omim.org/entry/604320"">604320</a> <a href=""https://www.omim.org/entry/158580"">158580</a> <a href=""https://www.omim.org/entry/607641"">607641</a> <a href=""https://www.omim.org/entry/600175"">600175</a> <a href=""https://www.omim.org/entry/617721"">617721</a> <a href=""https://www.omim.org/entry/605726"">605726</a> <a href=""https://www.omim.org/entry/611067"">611067</a> <a href=""https://www.omim.org/entry/614881"">614881</a> <a href=""https://www.omim.org/entry/300489"">300489</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028385"">22028385</a>
 著者        Rossor AM, Kalmar B, Greensmith L, Reilly MM
 タイトル      The distal hereditary motor neuropathies.
 雑誌        J Neurol Neurosurg Psychiatry 83:6-14 (2012)
 DOI:<a href=""https://doi.org/10.1136/jnnp-2011-300952"">10.1136/jnnp-2011-300952</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19917815"">19917815</a>
 著者        Reilly MM, Shy ME
 タイトル      Diagnosis and new treatments in genetic neuropathies.
 雑誌        J Neurol Neurosurg Psychiatry 80:1304-14 (2009)
 DOI:<a href=""https://doi.org/10.1136/jnnp.2008.158295"">10.1136/jnnp.2008.158295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24207122"">24207122</a>
 著者        Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Zuchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H
 タイトル      A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
 雑誌        Am J Hum Genet 93:976-83 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.006"">10.1016/j.ajhg.2013.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22703882"">22703882</a>
 著者        Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M
 タイトル      Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
 雑誌        Am J Hum Genet 91:139-45 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.007"">10.1016/j.ajhg.2012.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23141292"">23141292</a>
 著者        Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH
 タイトル      Defective presynaptic choline transport underlies hereditary motor neuropathy.
 雑誌        Am J Hum Genet 91:1103-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.019"">10.1016/j.ajhg.2012.09.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26078401"">26078401</a>
 著者        Li X, Hu Z, Liu L, Xie Y, Zhan Y, Zi X, Wang J, Wu L, Xia K, Tang B, Zhang R
 タイトル      A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
 雑誌        Neurology 84:2430-7 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001680"">10.1212/WNL.0000000000001680</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17564964"">17564964</a>
 著者        Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C
 タイトル      The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
 雑誌        Am J Hum Genet 81:67-76 (2007)
 DOI:<a href=""https://doi.org/10.1086/518900"">10.1086/518900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22522442"">22522442</a>
 著者        Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L
 タイトル      A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
 雑誌        Ann Neurol 71:509-19 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.22684"">10.1002/ana.22684</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170900"">20170900</a>
 著者        Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY
 タイトル      Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
 雑誌        Am J Hum Genet 86:343-52 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.027"">10.1016/j.ajhg.2010.01.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28369220"">28369220</a>
 著者        Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Zuchner S, Baets J, Lee YC
 タイトル      A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
 雑誌        Brain 140:1252-1266 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx058"">10.1093/brain/awx058</a>"
H00857,Oligodontia-colorectal cancer syndrome,,,Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2.,,,AXIN2 [HSA:8313] [KO:K04385],,,,,,"MeSH: C563698
 OMIM: 608615","PMID:15042511
 著者        Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P
 タイトル      Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
 雑誌        Am J Hum Genet 74:1043-50 (2004)
 DOI:10.1086/386293
 PMID:18499550
 著者        Bailleul-Forestier I, Molla M, Verloes A, Berdal A
 タイトル      The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
 雑誌        Eur J Med Genet 51:273-91 (2008)
 DOI:10.1016/j.ejmg.2008.02.009
 PMID:21416598
 著者        Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM
 タイトル      AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
 雑誌        Am J Med Genet A 155A:898-902 (2011)
 DOI:10.1002/ajmg.a.33927","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00857"">H00857</a>",Oligodontia-colorectal cancer syndrome,Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2.,,"AXIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8313"">8313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04385"">K04385</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563698"">C563698</a>
 OMIM: <a href=""https://www.omim.org/entry/608615"">608615</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15042511"">15042511</a>
 著者        Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P
 タイトル      Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
 雑誌        Am J Hum Genet 74:1043-50 (2004)
 DOI:<a href=""https://doi.org/10.1086/386293"">10.1086/386293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18499550"">18499550</a>
 著者        Bailleul-Forestier I, Molla M, Verloes A, Berdal A
 タイトル      The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
 雑誌        Eur J Med Genet 51:273-91 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2008.02.009"">10.1016/j.ejmg.2008.02.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21416598"">21416598</a>
 著者        Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM
 タイトル      AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
 雑誌        Am J Med Genet A 155A:898-902 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33927"">10.1002/ajmg.a.33927</a>"
H00858,"Marie-Unna 型先天性貧毛症
 上位グループ    乏毛症 [DS:H00786]",,,"Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified.",先天奇形,,"(MUHH1) HR [HSA:55806] [KO:K00478]
 (MUHH2) EPS8L3 [HSA:79574] [KO:K17277]",,,,,,"ICD-11: EC21.2
 ICD-10: Q84.0
 MeSH: C567718
 OMIM: 146550 612841","PMID:21504454
 著者        Podjasek JO, Hand JL
 タイトル      Marie-Unna hereditary hypotrichosis: case report and review of the literature.
 雑誌        Pediatr Dermatol 28:202-4 (2011)
 DOI:10.1111/j.1525-1470.2011.01387.x
 PMID:19122663
 著者        Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X
 タイトル      Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
 雑誌        Nat Genet 41:228-33 (2009)
 DOI:10.1038/ng.276
 PMID:20659777
 著者        Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nothen MM
 タイトル      Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
 雑誌        J Am Acad Dermatol 64:e45-50 (2011)
 DOI:10.1016/j.jaad.2010.06.013
 PMID:23099647
 著者        Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ
 タイトル      Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
 雑誌        J Med Genet 49:727-30 (2012)
 DOI:10.1136/jmedgenet-2012-101134","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00858"">H00858</a>","Marie-Unna 型先天性貧毛症
 上位グループ    乏毛症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00786"">H00786</a>]","Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified.",,"(MUHH1) HR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55806"">55806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00478"">K00478</a>]
 (MUHH2) EPS8L3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79574"">79574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17277"">K17277</a>]",,,,,,"ICD-11: EC21.2
 ICD-10: Q84.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567718"">C567718</a>
 OMIM: <a href=""https://www.omim.org/entry/146550"">146550</a> <a href=""https://www.omim.org/entry/612841"">612841</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21504454"">21504454</a>
 著者        Podjasek JO, Hand JL
 タイトル      Marie-Unna hereditary hypotrichosis: case report and review of the literature.
 雑誌        Pediatr Dermatol 28:202-4 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.2011.01387.x"">10.1111/j.1525-1470.2011.01387.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19122663"">19122663</a>
 著者        Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X
 タイトル      Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
 雑誌        Nat Genet 41:228-33 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.276"">10.1038/ng.276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20659777"">20659777</a>
 著者        Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nothen MM
 タイトル      Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
 雑誌        J Am Acad Dermatol 64:e45-50 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2010.06.013"">10.1016/j.jaad.2010.06.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23099647"">23099647</a>
 著者        Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ
 タイトル      Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
 雑誌        J Med Genet 49:727-30 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101134"">10.1136/jmedgenet-2012-101134</a>"
H00859,Guttmacher 症候群,,,"Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs and halluces, 5th finger clinobrachydactyly and hypospadias, Guttmacher syndrome displays postaxial polydactyly of the hands and short or uniphalangeal 2nd toes with absent nails.",先天奇形,,HOXA13 [HSA:3209] [KO:K09298],,,,,Hand-foot-genital syndrome [DS:H00460],"ICD-11: LD26.2
 ICD-10: Q87.2
 MeSH: C538278
 OMIM: 176305","PMID:11968094
 著者        Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE
 タイトル      A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
 雑誌        Hum Mutat 19:573-4 (2002)
 DOI:10.1002/humu.9036","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00859"">H00859</a>",Guttmacher 症候群,"Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs and halluces, 5th finger clinobrachydactyly and hypospadias, Guttmacher syndrome displays postaxial polydactyly of the hands and short or uniphalangeal 2nd toes with absent nails.",,"HOXA13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3209"">3209</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]",,,,,"Hand-foot-genital syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00460"">H00460</a>]","ICD-11: LD26.2
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538278"">C538278</a>
 OMIM: <a href=""https://www.omim.org/entry/176305"">176305</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11968094"">11968094</a>
 著者        Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE
 タイトル      A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
 雑誌        Hum Mutat 19:573-4 (2002)
 DOI:<a href=""https://doi.org/10.1002/humu.9036"">10.1002/humu.9036</a>"
H00860,良性遺伝性舞踏病,,,"Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis.",神経系疾患,,TTF1 [HSA:7270] [KO:K15225],,,,,,"ICD-11: 8A01.0
 ICD-10: G25.5
 MeSH: D002819
 OMIM: 118700","PMID:19501334
 著者        Gilbert DL
 タイトル      Acute and chronic chorea in childhood.
 雑誌        Semin Pediatr Neurol 16:71-6 (2009)
 DOI:10.1016/j.spen.2009.03.009
 PMID:21292530
 著者        Inzelberg R, Weinberger M, Gak E
 タイトル      Benign hereditary chorea: an update.
 雑誌        Parkinsonism Relat Disord 17:301-7 (2011)
 DOI:10.1016/j.parkreldis.2011.01.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00860"">H00860</a>",良性遺伝性舞踏病,"Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis.",,"TTF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7270"">7270</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15225"">K15225</a>]",,,,,,"ICD-11: 8A01.0
 ICD-10: G25.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002819"">D002819</a>
 OMIM: <a href=""https://www.omim.org/entry/118700"">118700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19501334"">19501334</a>
 著者        Gilbert DL
 タイトル      Acute and chronic chorea in childhood.
 雑誌        Semin Pediatr Neurol 16:71-6 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2009.03.009"">10.1016/j.spen.2009.03.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21292530"">21292530</a>
 著者        Inzelberg R, Weinberger M, Gak E
 タイトル      Benign hereditary chorea: an update.
 雑誌        Parkinsonism Relat Disord 17:301-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.parkreldis.2011.01.002"">10.1016/j.parkreldis.2011.01.002</a>"
H00861,膵臓非形成,,,"Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.",,,"(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
 (PAGEN2) PTF1A [HSA:256297] [KO:K09073]",,,,,,"ICD-11: LB21
 ICD-10: Q45.0
 OMIM: 260370 615935","PMID:8988180 (PDX1)
 著者        Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF
 タイトル      Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
 雑誌        Nat Genet 15:106-10 (1997)
 DOI:10.1038/ng0197-106
 PMID:12970316 (PDX1)
 著者        Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A, Jornayvaz FR, Theintz GE, Michielin O, Melloul D, Philippe J
 タイトル      Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
 雑誌        J Clin Endocrinol Metab 88:4398-406 (2003)
 DOI:10.1210/jc.2003-030046
 PMID:24212882 (PTF1A)
 著者        Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, Ellard S, Ferrer J, Hattersley AT
 タイトル      Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
 雑誌        Nat Genet 46:61-64 (2014)
 DOI:10.1038/ng.2826","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00861"">H00861</a>",膵臓非形成,"Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.",,"(PAGEN1) PDX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3651"">3651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07594"">K07594</a>]
 (PAGEN2) PTF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:256297"">256297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09073"">K09073</a>]",,,,,,"ICD-11: LB21
 ICD-10: Q45.0
 OMIM: <a href=""https://www.omim.org/entry/260370"">260370</a> <a href=""https://www.omim.org/entry/615935"">615935</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8988180"">8988180</a> (PDX1)
 著者        Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF
 タイトル      Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
 雑誌        Nat Genet 15:106-10 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0197-106"">10.1038/ng0197-106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12970316"">12970316</a> (PDX1)
 著者        Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A, Jornayvaz FR, Theintz GE, Michielin O, Melloul D, Philippe J
 タイトル      Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
 雑誌        J Clin Endocrinol Metab 88:4398-406 (2003)
 DOI:<a href=""https://doi.org/10.1210/jc.2003-030046"">10.1210/jc.2003-030046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24212882"">24212882</a> (PTF1A)
 著者        Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, Ellard S, Ferrer J, Hattersley AT
 タイトル      Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
 雑誌        Nat Genet 46:61-64 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2826"">10.1038/ng.2826</a>"
H00862,トゥーレット症候群,,,"Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated with TS. The SLITRK1 gene is expressed in brain regions and it appears to play a role in dendritic growth. Another possible rare genetic cause of TS is a mutation in the HDC gene. The HDC gene encodes for L-histidine decarboxylase, which is the rate-limiting enzyme that catalyzes the biosynthesis of histamine from histidine.",精神及び行動の障害,,"SLITRK1 [HSA:114798] [KO:K25832]
 HDC [HSA:3067] [KO:K01590]",,,,,,"ICD-11: 8A05.00
 ICD-10: F95.2
 MeSH: D005879
 OMIM: 137580","PMID:20445167
 著者        Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW
 タイトル      L-histidine decarboxylase and Tourette's syndrome.
 雑誌        N Engl J Med 362:1901-8 (2010)
 DOI:10.1056/NEJMoa0907006
 PMID:18794888
 著者        Katayama K, Yamada K, Ornthanalai VG, Inoue T, Ota M, Murphy NP, Aruga J
 タイトル      Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities.
 雑誌        Mol Psychiatry 15:177-84 (2010)
 DOI:10.1038/mp.2008.97
 PMID:21277193
 著者        State MW
 タイトル      The genetics of Tourette disorder.
 雑誌        Curr Opin Genet Dev 21:302-9 (2011)
 DOI:10.1016/j.gde.2011.01.007
 PMID:21386676 (Drug)
 著者        Bloch M, State M, Pittenger C
 タイトル      Recent advances in Tourette syndrome.
 雑誌        Curr Opin Neurol 24:119-25 (2011)
 DOI:10.1097/WCO.0b013e328344648c","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00862"">H00862</a>",トゥーレット症候群,"Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated with TS. The SLITRK1 gene is expressed in brain regions and it appears to play a role in dendritic growth. Another possible rare genetic cause of TS is a mutation in the HDC gene. The HDC gene encodes for L-histidine decarboxylase, which is the rate-limiting enzyme that catalyzes the biosynthesis of histamine from histidine.",,"SLITRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114798"">114798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25832"">K25832</a>]
 HDC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3067"">3067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01590"">K01590</a>]",,,,,,"ICD-11: 8A05.00
 ICD-10: F95.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005879"">D005879</a>
 OMIM: <a href=""https://www.omim.org/entry/137580"">137580</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20445167"">20445167</a>
 著者        Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW
 タイトル      L-histidine decarboxylase and Tourette's syndrome.
 雑誌        N Engl J Med 362:1901-8 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0907006"">10.1056/NEJMoa0907006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18794888"">18794888</a>
 著者        Katayama K, Yamada K, Ornthanalai VG, Inoue T, Ota M, Murphy NP, Aruga J
 タイトル      Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities.
 雑誌        Mol Psychiatry 15:177-84 (2010)
 DOI:<a href=""https://doi.org/10.1038/mp.2008.97"">10.1038/mp.2008.97</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21277193"">21277193</a>
 著者        State MW
 タイトル      The genetics of Tourette disorder.
 雑誌        Curr Opin Genet Dev 21:302-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.gde.2011.01.007"">10.1016/j.gde.2011.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21386676"">21386676</a> (Drug)
 著者        Bloch M, State M, Pittenger C
 タイトル      Recent advances in Tourette syndrome.
 雑誌        Curr Opin Neurol 24:119-25 (2011)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e328344648c"">10.1097/WCO.0b013e328344648c</a>"
H00863,脊椎分離-大骨端-骨幹端異形成,,,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait.",先天奇形,,NKX3-2 [HSA:579] [KO:K09995],,,,,"The diseases similar to spondylo-megaepiphyseal-metaphyseal dysplasia include spondylometaphyseal dysplasia (H00522), oto-spondylo-megaepiphyseal dysplasia (H00519), and cleidocranial dysplasia (H00521).","ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C567639
 OMIM: 613330","PMID:13680008
 著者        Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK
 タイトル      Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.
 雑誌        Pediatr Radiol 33:893-6 (2003)
 DOI:10.1007/s00247-003-1033-3
 PMID:20004766
 著者        Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G
 タイトル      Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
 雑誌        Am J Hum Genet 85:916-22 (2009)
 DOI:10.1016/j.ajhg.2009.11.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00863"">H00863</a>",脊椎分離-大骨端-骨幹端異形成,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait.",,"NKX3-2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:579"">579</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09995"">K09995</a>]",,,,,"The diseases similar to spondylo-megaepiphyseal-metaphyseal dysplasia include spondylometaphyseal dysplasia (H00522), oto-spondylo-megaepiphyseal dysplasia (H00519), and cleidocranial dysplasia (H00521).","ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567639"">C567639</a>
 OMIM: <a href=""https://www.omim.org/entry/613330"">613330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13680008"">13680008</a>
 著者        Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK
 タイトル      Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.
 雑誌        Pediatr Radiol 33:893-6 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00247-003-1033-3"">10.1007/s00247-003-1033-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20004766"">20004766</a>
 著者        Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G
 タイトル      Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
 雑誌        Am J Hum Genet 85:916-22 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.11.005"">10.1016/j.ajhg.2009.11.005</a>"
H00864,抜毛癖,,,"Trichotillomania (TTM) is a chronic behavioral disorder characterized by the irresistible urge to pull out one's hair, resulting in noticeable hair loss. Mutations in SLITRK1 are found in patients with TTM.",精神及び行動の障害,,SLITRK1 [HSA:114798] [KO:K25832],,,,,Mutations in SLITRK1 are also found in patients with Tourette syndrome. [DS:H00862],"ICD-11: 6B25.0
 ICD-10: F63.3
 MeSH: D014256
 OMIM: 613229","PMID:17003809
 著者        Zuchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA, Wright HH, Ashley-Koch A
 タイトル      SLITRK1 mutations in trichotillomania.
 雑誌        Mol Psychiatry 11:887-9 (2006)
 DOI:10.1038/sj.mp.4001865
 PMID:18794888
 著者        Katayama K, Yamada K, Ornthanalai VG, Inoue T, Ota M, Murphy NP, Aruga J
 タイトル      Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities.
 雑誌        Mol Psychiatry 15:177-84 (2010)
 DOI:10.1038/mp.2008.97","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00864"">H00864</a>",抜毛癖,"Trichotillomania (TTM) is a chronic behavioral disorder characterized by the irresistible urge to pull out one's hair, resulting in noticeable hair loss. Mutations in SLITRK1 are found in patients with TTM.",,"SLITRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114798"">114798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25832"">K25832</a>]",,,,,"Mutations in SLITRK1 are also found in patients with Tourette syndrome. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00862"">H00862</a>]","ICD-11: 6B25.0
 ICD-10: F63.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014256"">D014256</a>
 OMIM: <a href=""https://www.omim.org/entry/613229"">613229</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17003809"">17003809</a>
 著者        Zuchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA, Wright HH, Ashley-Koch A
 タイトル      SLITRK1 mutations in trichotillomania.
 雑誌        Mol Psychiatry 11:887-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001865"">10.1038/sj.mp.4001865</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18794888"">18794888</a>
 著者        Katayama K, Yamada K, Ornthanalai VG, Inoue T, Ota M, Murphy NP, Aruga J
 タイトル      Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities.
 雑誌        Mol Psychiatry 15:177-84 (2010)
 DOI:<a href=""https://doi.org/10.1038/mp.2008.97"">10.1038/mp.2008.97</a>"
H00865,致死性先天性拘縮症候群,,,"Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited in an autosomal recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Several mutations associated with LCCS have been reported.",先天奇形,,"(LCCS1) GLE1 [HSA:2733] [KO:K18723]
 (LCCS2) ERBB3 [HSA:2065] [KO:K05084]
 (LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
 (LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
 (LCCS5) DNM2 [HSA:1785] [KO:K23484]
 (LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
 (LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
 (LCCS8) ADCY6 [HSA:112] [KO:K08046]
 (LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
 (LCCS10) NEK9 [HSA:91754] [KO:K20878]
 (LCCS11) GLDN [HSA:342035] [KO:K16364]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q68.8
 MeSH: C537194 C564369 C566961
 OMIM: 253310 607598 611369 614915 615368 616248 616286 616287 616503 617022 617194","PMID:18204449 (GLE1)
 著者        Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
 タイトル      Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
 雑誌        Nat Genet 40:155-7 (2008)
 DOI:10.1038/ng.2007.65
 PMID:17701904 (ERBB3)
 著者        Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
 タイトル      Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
 雑誌        Am J Hum Genet 81:589-95 (2007)
 DOI:10.1086/520770
 PMID:17701898 (PIP5K1C)
 著者        Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
 タイトル      Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
 雑誌        Am J Hum Genet 81:530-9 (2007)
 DOI:10.1086/520771
 PMID:22610851 (MYBPC1)
 著者        Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS
 タイトル      Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
 雑誌        Hum Mutat 33:1435-8 (2012)
 DOI:10.1002/humu.22122
 PMID:23092955 (DNM2)
 著者        Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J
 タイトル      Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
 雑誌        Eur J Hum Genet 21:637-42 (2013)
 DOI:10.1038/ejhg.2012.226
 PMID:25055871 (ZBTB42)
 著者        Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS
 タイトル      ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
 雑誌        Hum Mol Genet 23:6584-93 (2014)
 DOI:10.1093/hmg/ddu384
 PMID:24319099 (CNTNAP1 ADCY6)
 著者        Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J
 タイトル      Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
 雑誌        Hum Mol Genet 23:2279-89 (2014)
 DOI:10.1093/hmg/ddt618
 PMID:26004201 (ADGRG6)
 著者        Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG
 タイトル      Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
 雑誌        Am J Hum Genet 96:955-61 (2015)
 DOI:10.1016/j.ajhg.2015.04.014
 PMID:26908619 (NEK9)
 著者        Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA
 タイトル      Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
 雑誌        Hum Mol Genet 25:1824-35 (2016)
 DOI:10.1093/hmg/ddw054
 PMID:27616481 (GLDN)
 著者        Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J
 タイトル      Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
 雑誌        Am J Hum Genet 99:928-933 (2016)
 DOI:10.1016/j.ajhg.2016.07.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00865"">H00865</a>",致死性先天性拘縮症候群,"Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited in an autosomal recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Several mutations associated with LCCS have been reported.",,"(LCCS1) GLE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2733"">2733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18723"">K18723</a>]
 (LCCS2) ERBB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2065"">2065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05084"">K05084</a>]
 (LCCS3) PIP5K1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23396"">23396</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00889"">K00889</a>]
 (LCCS4) MYBPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4604"">4604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12557"">K12557</a>]
 (LCCS5) DNM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1785"">1785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23484"">K23484</a>]
 (LCCS6) ZBTB42 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100128927"">100128927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23196"">K23196</a>]
 (LCCS7) CNTNAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8506"">8506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07379"">K07379</a>]
 (LCCS8) ADCY6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112"">112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08046"">K08046</a>]
 (LCCS9) ADGRG6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57211"">57211</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08463"">K08463</a>]
 (LCCS10) NEK9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91754"">91754</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20878"">K20878</a>]
 (LCCS11) GLDN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:342035"">342035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16364"">K16364</a>]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q68.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537194"">C537194</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564369"">C564369</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566961"">C566961</a>
 OMIM: <a href=""https://www.omim.org/entry/253310"">253310</a> <a href=""https://www.omim.org/entry/607598"">607598</a> <a href=""https://www.omim.org/entry/611369"">611369</a> <a href=""https://www.omim.org/entry/614915"">614915</a> <a href=""https://www.omim.org/entry/615368"">615368</a> <a href=""https://www.omim.org/entry/616248"">616248</a> <a href=""https://www.omim.org/entry/616286"">616286</a> <a href=""https://www.omim.org/entry/616287"">616287</a> <a href=""https://www.omim.org/entry/616503"">616503</a> <a href=""https://www.omim.org/entry/617022"">617022</a> <a href=""https://www.omim.org/entry/617194"">617194</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18204449"">18204449</a> (GLE1)
 著者        Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
 タイトル      Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
 雑誌        Nat Genet 40:155-7 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.65"">10.1038/ng.2007.65</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701904"">17701904</a> (ERBB3)
 著者        Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
 タイトル      Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
 雑誌        Am J Hum Genet 81:589-95 (2007)
 DOI:<a href=""https://doi.org/10.1086/520770"">10.1086/520770</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701898"">17701898</a> (PIP5K1C)
 著者        Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
 タイトル      Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
 雑誌        Am J Hum Genet 81:530-9 (2007)
 DOI:<a href=""https://doi.org/10.1086/520771"">10.1086/520771</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22610851"">22610851</a> (MYBPC1)
 著者        Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS
 タイトル      Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
 雑誌        Hum Mutat 33:1435-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22122"">10.1002/humu.22122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23092955"">23092955</a> (DNM2)
 著者        Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J
 タイトル      Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
 雑誌        Eur J Hum Genet 21:637-42 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.226"">10.1038/ejhg.2012.226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25055871"">25055871</a> (ZBTB42)
 著者        Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS
 タイトル      ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
 雑誌        Hum Mol Genet 23:6584-93 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu384"">10.1093/hmg/ddu384</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24319099"">24319099</a> (CNTNAP1 <a href=""https://pubmed.ncbi.nlm.nih.gov/ADCY6)"">ADCY6)</a>
 著者        Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J
 タイトル      Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
 雑誌        Hum Mol Genet 23:2279-89 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt618"">10.1093/hmg/ddt618</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26004201"">26004201</a> (ADGRG6)
 著者        Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG
 タイトル      Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
 雑誌        Am J Hum Genet 96:955-61 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.014"">10.1016/j.ajhg.2015.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26908619"">26908619</a> (NEK9)
 著者        Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA
 タイトル      Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
 雑誌        Hum Mol Genet 25:1824-35 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw054"">10.1093/hmg/ddw054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616481"">27616481</a> (GLDN)
 著者        Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J
 タイトル      Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
 雑誌        Am J Hum Genet 99:928-933 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.021"">10.1016/j.ajhg.2016.07.021</a>"
H00866,"裂毛症
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:H00403]",,,"Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.",皮膚疾患,,"(TTD1) ERCC2 [HSA:2068] [KO:K10844]
 (TTD2) ERCC3 [HSA:2071] [KO:K10843]
 (TTD3) GTF2H5 [HSA:404672] [KO:K10845]
 (TTD4) MPLKIP [HSA:136647] [KO:K24575]
 (TTD5) RNF113A [HSA:7737] [KO:K13127]
 (TTD6) GTF2E2 [HSA:2961] [KO:K03137]
 (TTD7) TARS1 [HSA:6897] [KO:K01868]
 (TTD8) AARS1 [HSA:16] [KO:K01872]
 (TTD9) MARS1 [HSA:4141] [KO:K01874]",,,,,,"ICD-11: EC21.1
 ICD-10: L67.8
 MeSH: D054463
 OMIM: 601675 616390 616395 234050 300953 616943 618546 619691 619692","PMID:9195225 (ERCC2)
 著者        Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA
 タイトル      DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
 雑誌        Hum Mutat 9:519-25 (1997)
 DOI:10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X
 PMID:9012405 (ERCC3)
 著者        Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A
 タイトル      A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
 雑誌        Am J Hum Genet 60:320-9 (1997)
 PMID:15220921 (GTF2H5)
 著者        Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W
 タイトル      A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
 雑誌        Nat Genet 36:714-9 (2004)
 DOI:10.1038/ng1387
 PMID:15645389 (MPLKIP)
 著者        Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW
 タイトル      Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
 雑誌        Am J Hum Genet 76:510-6 (2005)
 DOI:10.1086/428141
 PMID:25612912 (RNF113A)
 著者        Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M
 タイトル      A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
 雑誌        J Med Genet 52:269-74 (2015)
 DOI:10.1136/jmedgenet-2014-102418
 PMID:26996949 (GTF2E2)
 著者        Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M
 タイトル      GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
 雑誌        Am J Hum Genet 98:627-42 (2016)
 DOI:10.1016/j.ajhg.2016.02.008
 PMID:31374204 (TARS1)
 著者        Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D
 タイトル      Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
 雑誌        Am J Hum Genet 105:434-440 (2019)
 DOI:10.1016/j.ajhg.2019.06.017
 PMID:33909043 (AARS1 MARS1)
 著者        Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W
 タイトル      Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
 雑誌        Hum Mol Genet 30:1711-1720 (2021)
 DOI:10.1093/hmg/ddab123","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00866"">H00866</a>","裂毛症
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>]","Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.",,"(TTD1) ERCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2068"">2068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10844"">K10844</a>]
 (TTD2) ERCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2071"">2071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10843"">K10843</a>]
 (TTD3) GTF2H5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:404672"">404672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10845"">K10845</a>]
 (TTD4) MPLKIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:136647"">136647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24575"">K24575</a>]
 (TTD5) RNF113A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7737"">7737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13127"">K13127</a>]
 (TTD6) GTF2E2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2961"">2961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03137"">K03137</a>]
 (TTD7) TARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6897"">6897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01868"">K01868</a>]
 (TTD8) AARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:16"">16</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]
 (TTD9) MARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4141"">4141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01874"">K01874</a>]",,,,,,"ICD-11: EC21.1
 ICD-10: L67.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054463"">D054463</a>
 OMIM: <a href=""https://www.omim.org/entry/601675"">601675</a> <a href=""https://www.omim.org/entry/616390"">616390</a> <a href=""https://www.omim.org/entry/616395"">616395</a> <a href=""https://www.omim.org/entry/234050"">234050</a> <a href=""https://www.omim.org/entry/300953"">300953</a> <a href=""https://www.omim.org/entry/616943"">616943</a> <a href=""https://www.omim.org/entry/618546"">618546</a> <a href=""https://www.omim.org/entry/619691"">619691</a> <a href=""https://www.omim.org/entry/619692"">619692</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9195225"">9195225</a> (ERCC2)
 著者        Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA
 タイトル      DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
 雑誌        Hum Mutat 9:519-25 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1997)9:"">10.1002/(SICI)1098-1004(1997)9:</a><a href=""https://doi.org/6<519:"">6<519:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU4>3.0.CO;2-X"">AID-HUMU4>3.0.CO;2-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9012405"">9012405</a> (ERCC3)
 著者        Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A
 タイトル      A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
 雑誌        Am J Hum Genet 60:320-9 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15220921"">15220921</a> (GTF2H5)
 著者        Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W
 タイトル      A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
 雑誌        Nat Genet 36:714-9 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1387"">10.1038/ng1387</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15645389"">15645389</a> (MPLKIP)
 著者        Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW
 タイトル      Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
 雑誌        Am J Hum Genet 76:510-6 (2005)
 DOI:<a href=""https://doi.org/10.1086/428141"">10.1086/428141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25612912"">25612912</a> (RNF113A)
 著者        Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M
 タイトル      A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
 雑誌        J Med Genet 52:269-74 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102418"">10.1136/jmedgenet-2014-102418</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26996949"">26996949</a> (GTF2E2)
 著者        Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M
 タイトル      GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
 雑誌        Am J Hum Genet 98:627-42 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.02.008"">10.1016/j.ajhg.2016.02.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31374204"">31374204</a> (TARS1)
 著者        Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D
 タイトル      Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
 雑誌        Am J Hum Genet 105:434-440 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.017"">10.1016/j.ajhg.2019.06.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33909043"">33909043</a> (AARS1 <a href=""https://pubmed.ncbi.nlm.nih.gov/MARS1)"">MARS1)</a>
 著者        Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W
 タイトル      Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
 雑誌        Hum Mol Genet 30:1711-1720 (2021)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddab123"">10.1093/hmg/ddab123</a>"
H00867,無巨核球性血小板減少を伴う橈尺骨癒合症,,,This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.,先天奇形,,"HOXA11 [HSA:3207] [KO:K21951]
 MECOM [HSA:2122] [KO:K04462]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.8
 MeSH: C565328
 OMIM: 605432 616738","PMID:11101832
 著者        Thompson AA, Nguyen LT
 タイトル      Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.
 雑誌        Nat Genet 26:397-8 (2000)
 DOI:10.1038/82511
 PMID:26581901
 著者        Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y
 タイトル      Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
 雑誌        Am J Hum Genet 97:848-54 (2015)
 DOI:10.1016/j.ajhg.2015.10.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00867"">H00867</a>",無巨核球性血小板減少を伴う橈尺骨癒合症,This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.,,"HOXA11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3207"">3207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21951"">K21951</a>]
 MECOM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2122"">2122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04462"">K04462</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565328"">C565328</a>
 OMIM: <a href=""https://www.omim.org/entry/605432"">605432</a> <a href=""https://www.omim.org/entry/616738"">616738</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11101832"">11101832</a>
 著者        Thompson AA, Nguyen LT
 タイトル      Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.
 雑誌        Nat Genet 26:397-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/82511"">10.1038/82511</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26581901"">26581901</a>
 著者        Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y
 タイトル      Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
 雑誌        Am J Hum Genet 97:848-54 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.10.010"">10.1016/j.ajhg.2015.10.010</a>"
H00868,Stapes ankylosis with broad thumb and toes,,,"This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease.",先天奇形,,NOG [HSA:9241] [KO:K04658],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536943
 OMIM: 184460","PMID:9220188
 著者        Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M
 タイトル      The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
 雑誌        Clin Dysmorphol 6:195-203 (1997)
 DOI:10.1097/00019605-199707000-00001
 PMID:12089654
 著者        Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
 タイトル      Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
 雑誌        Am J Hum Genet 71:618-24 (2002)
 DOI:10.1086/342067","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00868"">H00868</a>",Stapes ankylosis with broad thumb and toes,"This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease.",,"NOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9241"">9241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04658"">K04658</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536943"">C536943</a>
 OMIM: <a href=""https://www.omim.org/entry/184460"">184460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9220188"">9220188</a>
 著者        Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M
 タイトル      The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
 雑誌        Clin Dysmorphol 6:195-203 (1997)
 DOI:<a href=""https://doi.org/10.1097/00019605-199707000-00001"">10.1097/00019605-199707000-00001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12089654"">12089654</a>
 著者        Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
 タイトル      Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
 雑誌        Am J Hum Genet 71:618-24 (2002)
 DOI:<a href=""https://doi.org/10.1086/342067"">10.1086/342067</a>"
H00869,"VWM 型白質脳症;
 白質消失病;
 中枢神経系白質形成不全症を伴う小児失調症;
 Cree 白質脳症
 下位グループ    卵巣白質ジストロフィー [DS:H02200]",,,"Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.",神経系疾患; 先天性代謝異常症,,"EIF2B1 [HSA:1967] [KO:K03239]
 EIF2B2 [HSA:8892] [KO:K03754]
 EIF2B3 [HSA:8891] [KO:K03241]
 EIF2B4 [HSA:8890] [KO:K03680]
 EIF2B5 [HSA:8893] [KO:K03240]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: D056784
 OMIM: 603896","PMID:17414998
 著者        Lyon G, Fattal-Valevski A, Kolodny EH
 タイトル      Leukodystrophies: clinical and genetic aspects.
 雑誌        Top Magn Reson Imaging 17:219-42 (2006)
 DOI:10.1097/RMR.0b013e31804c99d4
 PMID:16807905
 著者        Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS
 タイトル      Vanishing white matter disease: a review with focus on its genetics.
 雑誌        Ment Retard Dev Disabil Res Rev 12:123-8 (2006)
 DOI:10.1002/mrdd.20104
 PMID:20838246
 著者        Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS
 タイトル      Leukoencephalopathy with vanishing white matter: a review.
 雑誌        J Neuropathol Exp Neurol 69:987-96 (2010)
 DOI:10.1097/NEN.0b013e3181f2eafa","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00869"">H00869</a>","VWM 型白質脳症;
 白質消失病;
 中枢神経系白質形成不全症を伴う小児失調症;
 Cree 白質脳症
 下位グループ    卵巣白質ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02200"">H02200</a>]","Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.",,"EIF2B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1967"">1967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03239"">K03239</a>]
 EIF2B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8892"">8892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03754"">K03754</a>]
 EIF2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8891"">8891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03241"">K03241</a>]
 EIF2B4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8890"">8890</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03680"">K03680</a>]
 EIF2B5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8893"">8893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03240"">K03240</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056784"">D056784</a>
 OMIM: <a href=""https://www.omim.org/entry/603896"">603896</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17414998"">17414998</a>
 著者        Lyon G, Fattal-Valevski A, Kolodny EH
 タイトル      Leukodystrophies: clinical and genetic aspects.
 雑誌        Top Magn Reson Imaging 17:219-42 (2006)
 DOI:<a href=""https://doi.org/10.1097/RMR.0b013e31804c99d4"">10.1097/RMR.0b013e31804c99d4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16807905"">16807905</a>
 著者        Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS
 タイトル      Vanishing white matter disease: a review with focus on its genetics.
 雑誌        Ment Retard Dev Disabil Res Rev 12:123-8 (2006)
 DOI:<a href=""https://doi.org/10.1002/mrdd.20104"">10.1002/mrdd.20104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20838246"">20838246</a>
 著者        Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS
 タイトル      Leukoencephalopathy with vanishing white matter: a review.
 雑誌        J Neuropathol Exp Neurol 69:987-96 (2010)
 DOI:<a href=""https://doi.org/10.1097/NEN.0b013e3181f2eafa"">10.1097/NEN.0b013e3181f2eafa</a>"
H00870,短指‐合指症候群,,,"This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] and synpolydactyly [DS:H00459].",先天奇形,,HOXD13 [HSA:3239] [KO:K09298],,,,,,"ICD-11: LD26.2
 ICD-10: Q73.8
 MeSH: C565193
 OMIM: 610713","PMID:17236141
 著者        Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
 タイトル      Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
 雑誌        Am J Hum Genet 80:361-71 (2007)
 DOI:10.1086/511387","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00870"">H00870</a>",短指‐合指症候群,"This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00482"">H00482</a>] and synpolydactyly [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00459]."">H00459].</a>",,"HOXD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3239"">3239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]",,,,,,"ICD-11: LD26.2
 ICD-10: Q73.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565193"">C565193</a>
 OMIM: <a href=""https://www.omim.org/entry/610713"">610713</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17236141"">17236141</a>
 著者        Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
 タイトル      Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
 雑誌        Am J Hum Genet 80:361-71 (2007)
 DOI:<a href=""https://doi.org/10.1086/511387"">10.1086/511387</a>"
H00871,脳幹及び脊髄障害と乳酸上昇を伴う白質脳症,,,"Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive pyramidal, cerebellar and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS).",神経系疾患; 先天性代謝疾患,,DARS2 [HSA:55157] [KO:K01876],,,,,,"ICD-11: 5C53.23
 ICD-10: E75.2
 MeSH: C567009
 OMIM: 611105","PMID:22023289
 著者        van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC
 タイトル      Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
 雑誌        Biochem J 441:955-62 (2012)
 DOI:10.1042/BJ20110795
 PMID:21749991
 著者        Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L
 タイトル      Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
 雑誌        J Med Genet 48:713-5 (2011)
 DOI:10.1136/jmg.2011.090282","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00871"">H00871</a>",脳幹及び脊髄障害と乳酸上昇を伴う白質脳症,"Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive pyramidal, cerebellar and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS).",,"DARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55157"">55157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01876"">K01876</a>]",,,,,,"ICD-11: 5C53.23
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567009"">C567009</a>
 OMIM: <a href=""https://www.omim.org/entry/611105"">611105</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22023289"">22023289</a>
 著者        van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC
 タイトル      Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
 雑誌        Biochem J 441:955-62 (2012)
 DOI:<a href=""https://doi.org/10.1042/BJ20110795"">10.1042/BJ20110795</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21749991"">21749991</a>
 著者        Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L
 タイトル      Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
 雑誌        J Med Genet 48:713-5 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2011.090282"">10.1136/jmg.2011.090282</a>"
H00872,"開口不全・偽屈曲指症候群;
 Hecht-Beals 症候群;
 Dutch-Kentucky 症候群
 上位グループ    遠位関節拘縮症 [DS:H00811]",,,"Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly).",先天奇形,,MYH8 [HSA:4626] [KO:K24220],,,,,,"ICD-11: LD26.4Y
 ICD-10: Q68.8
 MeSH: C535857
 OMIM: 158300","PMID:17041932
 著者        Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ
 タイトル      Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
 雑誌        Am J Med Genet A 140:2387-93 (2006)
 DOI:10.1002/ajmg.a.31495
 PMID:15888111
 著者        Carlos R, Contreras E, Cabrera J
 タイトル      Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review.
 雑誌        Oral Dis 11:186-9 (2005)
 DOI:10.1111/j.1601-0825.2005.01005.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00872"">H00872</a>","開口不全・偽屈曲指症候群;
 Hecht-Beals 症候群;
 Dutch-Kentucky 症候群
 上位グループ    遠位関節拘縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00811"">H00811</a>]","Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly).",,"MYH8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4626"">4626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24220"">K24220</a>]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q68.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535857"">C535857</a>
 OMIM: <a href=""https://www.omim.org/entry/158300"">158300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17041932"">17041932</a>
 著者        Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ
 タイトル      Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
 雑誌        Am J Med Genet A 140:2387-93 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31495"">10.1002/ajmg.a.31495</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15888111"">15888111</a>
 著者        Carlos R, Contreras E, Cabrera J
 タイトル      Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review.
 雑誌        Oral Dis 11:186-9 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1601-0825.2005.01005.x"">10.1111/j.1601-0825.2005.01005.x</a>"
H00873,"Cousin 症候群;
 肩甲骨骨盤異形成",,,"Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency.",先天奇形,,TBX15 [HSA:6913] [KO:K10182],,,,,,"ICD-11: LB9Y
 ICD-10: Q87.5
 MeSH: C535550
 OMIM: 260660","PMID:19068278
 著者        Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A
 タイトル      TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
 雑誌        Am J Hum Genet 83:649-55 (2008)
 DOI:10.1016/j.ajhg.2008.10.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00873"">H00873</a>","Cousin 症候群;
 肩甲骨骨盤異形成","Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency.",,"TBX15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6913"">6913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10182"">K10182</a>]",,,,,,"ICD-11: LB9Y
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535550"">C535550</a>
 OMIM: <a href=""https://www.omim.org/entry/260660"">260660</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19068278"">19068278</a>
 著者        Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A
 タイトル      TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
 雑誌        Am J Hum Genet 83:649-55 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.011"">10.1016/j.ajhg.2008.10.011</a>"
H00874,"ジストニアと運動神経障害を伴う白質脳症;
 ステロールキャリアプロテイン 2 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:H00407]",,,"Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia.",神経系疾患; 先天性代謝異常症,nt06021  beta-Oxidation in peroxisome,SCP2 [HSA:6342] [KO:K08764],,,,,,"ICD-11: 5C57.1
 ICD-10: E75.2
 MeSH: C566654
 OMIM: 613724","PMID:16685654
 著者        Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M
 タイトル      Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
 雑誌        Am J Hum Genet 78:1046-52 (2006)
 DOI:10.1086/503921","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00874"">H00874</a>","ジストニアと運動神経障害を伴う白質脳症;
 ステロールキャリアプロテイン 2 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00407"">H00407</a>]","Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia.","<a href=""https://www.kegg.jp/network/nt06021"">nt06021</a>  beta-Oxidation in peroxisome","SCP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6342"">6342</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08764"">K08764</a>]",,,,,,"ICD-11: 5C57.1
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566654"">C566654</a>
 OMIM: <a href=""https://www.omim.org/entry/613724"">613724</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16685654"">16685654</a>
 著者        Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M
 タイトル      Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
 雑誌        Am J Hum Genet 78:1046-52 (2006)
 DOI:<a href=""https://doi.org/10.1086/503921"">10.1086/503921</a>"
H00875,皮質下嚢胞をもつ大頭型白質脳症,,,"Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, MLC can be distinguished from other conditions (ie, Alexander disease [DS:H00065], Canavan disease [DS:H00074], glutaric acidemia type I [DS:H00178]) that present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition. Recently, mutations in HEPACAM gene are reported to be associated with MLC.",神経系疾患; 先天性代謝異常症,,"(MLC1) MLC1 [HSA:23209] [KO:K20070]
 (MLC2A, MLC2B) HEPACAM [HSA:220296] [KO:K23116]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: C536141
 OMIM: 604004 613925 613926","PMID:14572144
 著者        Singhal BS, Gorospe JR, Naidu S
 タイトル      Megalencephalic leukoencephalopathy with subcortical cysts.
 雑誌        J Child Neurol 18:646-52 (2003)
 DOI:10.1177/08830738030180091201
 PMID:15832614
 著者        Riel-Romero RM, Smith CD, Pettigrew AL
 タイトル      Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
 雑誌        J Child Neurol 20:230-4 (2005)
 DOI:10.1177/088307380502000301
 PMID:21419380
 著者        Lopez-Hernandez T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martinez A, Estevez R, van der Knaap MS
 タイトル      Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
 雑誌        Am J Hum Genet 88:422-32 (2011)
 DOI:10.1016/j.ajhg.2011.02.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00875"">H00875</a>",皮質下嚢胞をもつ大頭型白質脳症,"Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, MLC can be distinguished from other conditions (ie, Alexander disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00065],"">H00065],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Canavan"">Canavan</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00074],"">H00074],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glutaric"">glutaric</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acidemia"">acidemia</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:type"">type</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:I"">I</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00178])"">H00178])</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:present"">present</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infancy"">infancy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:megalencephaly."">megalencephaly.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:An"">An</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autosomal"">autosomal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:recessive"">recessive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MLC1"">MLC1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:shown"">shown</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:this"">this</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:condition."">condition.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Recently,"">Recently,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HEPACAM"">HEPACAM</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported"">reported</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:associated"">associated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MLC."">MLC.</a>",,"(MLC1) MLC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23209"">23209</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20070"">K20070</a>]
 (MLC2A, MLC2B) HEPACAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:220296"">220296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23116"">K23116</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536141"">C536141</a>
 OMIM: <a href=""https://www.omim.org/entry/604004"">604004</a> <a href=""https://www.omim.org/entry/613925"">613925</a> <a href=""https://www.omim.org/entry/613926"">613926</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14572144"">14572144</a>
 著者        Singhal BS, Gorospe JR, Naidu S
 タイトル      Megalencephalic leukoencephalopathy with subcortical cysts.
 雑誌        J Child Neurol 18:646-52 (2003)
 DOI:<a href=""https://doi.org/10.1177/08830738030180091201"">10.1177/08830738030180091201</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15832614"">15832614</a>
 著者        Riel-Romero RM, Smith CD, Pettigrew AL
 タイトル      Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
 雑誌        J Child Neurol 20:230-4 (2005)
 DOI:<a href=""https://doi.org/10.1177/088307380502000301"">10.1177/088307380502000301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21419380"">21419380</a>
 著者        Lopez-Hernandez T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martinez A, Estevez R, van der Knaap MS
 タイトル      Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
 雑誌        Am J Hum Genet 88:422-32 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.009"">10.1016/j.ajhg.2011.02.009</a>"
H00876,"ミスマッチ修復異常
 下位グループ    ミスマッチ修復癌症候群 (MMRCS)
 遺伝性非ポリポーシス大腸がん (HNPCC) [DS:H02565]
 リンチ症候群",,,"Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas.",その他の疾患,,"(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734]
 (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735]
 (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737]
 (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858]
 (HNPCC7) MLH3 [HSA:27030] [KO:K08739]",,,,,,"ICD-10: Z15
 MeSH: D003123 D055847
 OMIM: 276300 619096 619097 619101","PMID:22175017
 著者        Masuda K, Banno K, Yanokura M, Kobayashi Y, Kisu I, Ueki A, Ono A, Asahara N, Nomura H, Hirasawa A, Susumu N, Aoki D
 タイトル      Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer.
 雑誌        Mol Biol Int 2011:256063 (2011)
 DOI:10.4061/2011/256063
 PMID:24737826
 著者        Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L
 タイトル      Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
 雑誌        J Med Genet 51:355-65 (2014)
 DOI:10.1136/jmedgenet-2014-102284
 PMID:9927033 (MLH1)
 著者        Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M
 タイトル      Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
 雑誌        Cancer Res 59:290-3 (1999)
 PMID:12549480 (MSH2)
 著者        Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frebourg T
 タイトル      Early onset brain tumor and lymphoma in MSH2-deficient children.
 雑誌        Am J Hum Genet 72:213-6 (2003)
 DOI:10.1086/345297
 PMID:15340263 (MSH6)
 著者        Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ
 タイトル      A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.
 雑誌        Fam Cancer 3:123-7 (2004)
 DOI:10.1023/B:FAME.0000039893.19289.18
 PMID:15256438 (PMS2)
 著者        Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A
 タイトル      Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
 雑誌        Cancer Res 64:4721-7 (2004)
 DOI:10.1158/0008-5472.CAN-03-2879","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00876"">H00876</a>","ミスマッチ修復異常
 下位グループ    ミスマッチ修復癌症候群 (MMRCS)
 遺伝性非ポリポーシス大腸がん (HNPCC) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02565"">H02565</a>]
 リンチ症候群","Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas.",,"(MMRCS1/HNPCC2) MLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 (MMRCS2/HNPCC1) MSH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4436"">4436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08735"">K08735</a>]
 (MMRCS3/HNPCC5) MSH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2956"">2956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08737"">K08737</a>]
 (MMRCS4/HNPCC4) PMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5395"">5395</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10858"">K10858</a>]
 (HNPCC7) MLH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27030"">27030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08739"">K08739</a>]",,,,,,"ICD-10: Z15
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003123"">D003123</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055847"">D055847</a>
 OMIM: <a href=""https://www.omim.org/entry/276300"">276300</a> <a href=""https://www.omim.org/entry/619096"">619096</a> <a href=""https://www.omim.org/entry/619097"">619097</a> <a href=""https://www.omim.org/entry/619101"">619101</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22175017"">22175017</a>
 著者        Masuda K, Banno K, Yanokura M, Kobayashi Y, Kisu I, Ueki A, Ono A, Asahara N, Nomura H, Hirasawa A, Susumu N, Aoki D
 タイトル      Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer.
 雑誌        Mol Biol Int 2011:256063 (2011)
 DOI:<a href=""https://doi.org/10.4061/2011/256063"">10.4061/2011/256063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24737826"">24737826</a>
 著者        Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L
 タイトル      Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
 雑誌        J Med Genet 51:355-65 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102284"">10.1136/jmedgenet-2014-102284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9927033"">9927033</a> (MLH1)
 著者        Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M
 タイトル      Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
 雑誌        Cancer Res 59:290-3 (1999)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12549480"">12549480</a> (MSH2)
 著者        Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frebourg T
 タイトル      Early onset brain tumor and lymphoma in MSH2-deficient children.
 雑誌        Am J Hum Genet 72:213-6 (2003)
 DOI:<a href=""https://doi.org/10.1086/345297"">10.1086/345297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15340263"">15340263</a> (MSH6)
 著者        Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ
 タイトル      A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.
 雑誌        Fam Cancer 3:123-7 (2004)
 DOI:<a href=""https://doi.org/10.1023/B:"">10.1023/B:</a><a href=""https://doi.org/FAME.0000039893.19289.18"">FAME.0000039893.19289.18</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15256438"">15256438</a> (PMS2)
 著者        Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A
 タイトル      Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
 雑誌        Cancer Res 64:4721-7 (2004)
 DOI:<a href=""https://doi.org/10.1158/0008-5472.CAN-03-2879"">10.1158/0008-5472.CAN-03-2879</a>"
H00877,"脳小血管病
 下位グループ    孔脳症 [DS:H00839]",,,"Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations.",循環器疾患,,"(BSVD1) COL4A1 [HSA:1282] [KO:K06237]
 (BSVD2) COL4A2 [HSA:1284] [KO:K06237]
 (BSVD3) COLGALT1 [HSA:79709] [KO:K11703]",,,,,,"ICD-11: 8B22.CY
 ICD-10: I67.3
 MeSH: C564372
 OMIM: 175780 614483 618360","PMID:21062344
 著者        Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN
 タイトル      Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
 雑誌        Neuropathol Appl Neurobiol 37:94-113 (2011)
 DOI:10.1111/j.1365-2990.2010.01147.x
 PMID:20558831
 著者        Lanfranconi S, Markus HS
 タイトル      COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.
 雑誌        Stroke 41:e513-8 (2010)
 DOI:10.1161/STROKEAHA.110.581918
 PMID:20166936
 著者        Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A
 タイトル      Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
 雑誌        Curr Med Chem 17:1317-24 (2010)
 DOI:10.2174/092986710790936293
 PMID:17696175
 著者        Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C
 タイトル      COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
 雑誌        Ann Neurol 62:177-84 (2007)
 DOI:10.1002/ana.21191
 PMID:30413629
 著者        Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leao M, Gartner J, Merkenschlager A, Jaksch M, Moller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Ounap K, Korber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM
 タイトル      Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
 雑誌        Neurology 91:e2078-e2088 (2018)
 DOI:10.1212/WNL.0000000000006567
 PMID:30412317
 著者        Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N
 タイトル      Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
 雑誌        Ann Neurol 84:843-853 (2018)
 DOI:10.1002/ana.25367","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00877"">H00877</a>","脳小血管病
 下位グループ    孔脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00839"">H00839</a>]","Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations.",,"(BSVD1) COL4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1282"">1282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 (BSVD2) COL4A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1284"">1284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 (BSVD3) COLGALT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79709"">79709</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11703"">K11703</a>]",,,,,,"ICD-11: 8B22.CY
 ICD-10: I67.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564372"">C564372</a>
 OMIM: <a href=""https://www.omim.org/entry/175780"">175780</a> <a href=""https://www.omim.org/entry/614483"">614483</a> <a href=""https://www.omim.org/entry/618360"">618360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21062344"">21062344</a>
 著者        Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN
 タイトル      Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
 雑誌        Neuropathol Appl Neurobiol 37:94-113 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2990.2010.01147.x"">10.1111/j.1365-2990.2010.01147.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20558831"">20558831</a>
 著者        Lanfranconi S, Markus HS
 タイトル      COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.
 雑誌        Stroke 41:e513-8 (2010)
 DOI:<a href=""https://doi.org/10.1161/STROKEAHA.110.581918"">10.1161/STROKEAHA.110.581918</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20166936"">20166936</a>
 著者        Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A
 タイトル      Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
 雑誌        Curr Med Chem 17:1317-24 (2010)
 DOI:<a href=""https://doi.org/10.2174/092986710790936293"">10.2174/092986710790936293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17696175"">17696175</a>
 著者        Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C
 タイトル      COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
 雑誌        Ann Neurol 62:177-84 (2007)
 DOI:<a href=""https://doi.org/10.1002/ana.21191"">10.1002/ana.21191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30413629"">30413629</a>
 著者        Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leao M, Gartner J, Merkenschlager A, Jaksch M, Moller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Ounap K, Korber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM
 タイトル      Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
 雑誌        Neurology 91:e2078-e2088 (2018)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000006567"">10.1212/WNL.0000000000006567</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30412317"">30412317</a>
 著者        Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N
 タイトル      Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
 雑誌        Ann Neurol 84:843-853 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25367"">10.1002/ana.25367</a>"
H00878,Cystic leukoencephalopathy without megalencephaly,,,Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to this disorder.,神経系疾患; 先天性代謝異常症,,RNASET2 [HSA:8635] [KO:K01166],,,,,,"ICD-11: 5C55.2
 ICD-10: E75.2
 MeSH: C567845
 OMIM: 612951","PMID:19525954
 著者        Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschutter A, Kratzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Ruschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nurnberg P, Gartner J
 タイトル      RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
 雑誌        Nat Genet 41:773-5 (2009)
 DOI:10.1038/ng.398","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00878"">H00878</a>",Cystic leukoencephalopathy without megalencephaly,Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to this disorder.,,"RNASET2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8635"">8635</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01166"">K01166</a>]",,,,,,"ICD-11: 5C55.2
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567845"">C567845</a>
 OMIM: <a href=""https://www.omim.org/entry/612951"">612951</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19525954"">19525954</a>
 著者        Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschutter A, Kratzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Ruschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nurnberg P, Gartner J
 タイトル      RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
 雑誌        Nat Genet 41:773-5 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.398"">10.1038/ng.398</a>"
H00879,ペリー症候群,,,"Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex.",神経変性疾患,,DCTN1 [HSA:1639] [KO:K04648],,,,,,"ICD-11: 8A00.1Y
 MeSH: C566822
 OMIM: 168605","PMID:19136952
 著者        Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK
 タイトル      DCTN1 mutations in Perry syndrome.
 雑誌        Nat Genet 41:163-5 (2009)
 DOI:10.1038/ng.293
 PMID:20437543
 著者        Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR
 タイトル      Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
 雑誌        Mov Disord 25:767-70 (2010)
 DOI:10.1002/mds.22950","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00879"">H00879</a>",ペリー症候群,"Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex.",,"DCTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1639"">1639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04648"">K04648</a>]",,,,,,"ICD-11: 8A00.1Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566822"">C566822</a>
 OMIM: <a href=""https://www.omim.org/entry/168605"">168605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19136952"">19136952</a>
 著者        Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK
 タイトル      DCTN1 mutations in Perry syndrome.
 雑誌        Nat Genet 41:163-5 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.293"">10.1038/ng.293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20437543"">20437543</a>
 著者        Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR
 タイトル      Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
 雑誌        Mov Disord 25:767-70 (2010)
 DOI:<a href=""https://doi.org/10.1002/mds.22950"">10.1002/mds.22950</a>"
H00880,遺伝性対側性色素異常症,,,Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented macules on dorsa of hands and feet. It is caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1).,皮膚疾患,,ADAR [HSA:103] [KO:K12968],,,,,,"ICD-11: EC23.Y
 ICD-10: L81.8
 MeSH: C535729
 OMIM: 127400","PMID:16882194
 著者        Liu Y, Xiao SX, Peng ZH, Lei XB, Wang JM, Li Y, Li XL
 タイトル      Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
 雑誌        Br J Dermatol 155:473-6 (2006)
 DOI:10.1111/j.1365-2133.2006.07223.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00880"">H00880</a>",遺伝性対側性色素異常症,Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented macules on dorsa of hands and feet. It is caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1).,,"ADAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:103"">103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12968"">K12968</a>]",,,,,,"ICD-11: EC23.Y
 ICD-10: L81.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535729"">C535729</a>
 OMIM: <a href=""https://www.omim.org/entry/127400"">127400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16882194"">16882194</a>
 著者        Liu Y, Xiao SX, Peng ZH, Lei XB, Wang JM, Li Y, Li XL
 タイトル      Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
 雑誌        Br J Dermatol 155:473-6 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2006.07223.x"">10.1111/j.1365-2133.2006.07223.x</a>"
H00881,リー・フラウメニ症候群,,,"Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, LFS and its variants are increasingly recognized as one of the most frequent and diverse forms of predisposition to cancer. Most cases identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed clinical diagnostic criteria.",その他の疾患,,"TP53 [HSA:7157] [KO:K04451]
 CHEK2 [HSA:11200] [KO:K06641]",,,,,,"ICD-11: 2B51.Y
 ICD-10: Z15
 MeSH: D016864
 OMIM: 151623 609265","PMID:19952748
 著者        Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P
 タイトル      Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.
 雑誌        Curr Opin Oncol 22:64-9 (2010)
 DOI:10.1097/CCO.0b013e328333bf00
 PMID:15695383
 著者        Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R
 タイトル      Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.
 雑誌        Cancer Res 65:427-31 (2005)
 PMID:19652052
 著者        Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T
 タイトル      2009 version of the Chompret criteria for Li Fraumeni syndrome.
 雑誌        J Clin Oncol 27:e108-9; author reply e110 (2009)
 DOI:10.1200/JCO.2009.22.7967","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00881"">H00881</a>",リー・フラウメニ症候群,"Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, LFS and its variants are increasingly recognized as one of the most frequent and diverse forms of predisposition to cancer. Most cases identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed clinical diagnostic criteria.",,"TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 CHEK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11200"">11200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06641"">K06641</a>]",,,,,,"ICD-11: 2B51.Y
 ICD-10: Z15
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016864"">D016864</a>
 OMIM: <a href=""https://www.omim.org/entry/151623"">151623</a> <a href=""https://www.omim.org/entry/609265"">609265</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19952748"">19952748</a>
 著者        Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P
 タイトル      Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.
 雑誌        Curr Opin Oncol 22:64-9 (2010)
 DOI:<a href=""https://doi.org/10.1097/CCO.0b013e328333bf00"">10.1097/CCO.0b013e328333bf00</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15695383"">15695383</a>
 著者        Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R
 タイトル      Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.
 雑誌        Cancer Res 65:427-31 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19652052"">19652052</a>
 著者        Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T
 タイトル      2009 version of the Chompret criteria for Li Fraumeni syndrome.
 雑誌        J Clin Oncol 27:e108-9; author reply e110 (2009)
 DOI:<a href=""https://doi.org/10.1200/JCO.2009.22.7967"">10.1200/JCO.2009.22.7967</a>"
H00882,胎児繭状症候群,,,"Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events.",先天奇形,,CHUK [HSA:1147] [KO:K04467],,,,,,OMIM: 613630,"PMID:20961246
 著者        Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M
 タイトル      Mutant CHUK and severe fetal encasement malformation.
 雑誌        N Engl J Med 363:1631-7 (2010)
 DOI:10.1056/NEJMoa0911698","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00882"">H00882</a>",胎児繭状症候群,"Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events.",,"CHUK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1147"">1147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04467"">K04467</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/613630"">613630</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20961246"">20961246</a>
 著者        Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M
 タイトル      Mutant CHUK and severe fetal encasement malformation.
 雑誌        N Engl J Med 363:1631-7 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0911698"">10.1056/NEJMoa0911698</a>"
H00883,"類脂質蛋白症;
 遺伝性ヒアリン皮膚粘膜蓄積症",,,"Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear.",,,ECM1 [HSA:1893] [KO:K23867],,,,,,"ICD-11: LD27.Y
 ICD-10: E75.5
 MeSH: D008065
 OMIM: 247100","PMID:17063986
 著者        Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM
 タイトル      Lipoid proteinosis: case report and review of the literature.
 雑誌        Acta Otorhinolaryngol Ital 26:162-7 (2006)
 PMID:15533571
 著者        Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H
 タイトル      Lipoid proteinosis of larynx: review of four cases.
 雑誌        Int J Pediatr Otorhinolaryngol 68:1557-61 (2004)
 DOI:10.1016/j.ijporl.2004.07.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00883"">H00883</a>","類脂質蛋白症;
 遺伝性ヒアリン皮膚粘膜蓄積症","Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear.",,"ECM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1893"">1893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23867"">K23867</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: E75.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008065"">D008065</a>
 OMIM: <a href=""https://www.omim.org/entry/247100"">247100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17063986"">17063986</a>
 著者        Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM
 タイトル      Lipoid proteinosis: case report and review of the literature.
 雑誌        Acta Otorhinolaryngol Ital 26:162-7 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15533571"">15533571</a>
 著者        Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H
 タイトル      Lipoid proteinosis of larynx: review of four cases.
 雑誌        Int J Pediatr Otorhinolaryngol 68:1557-61 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ijporl.2004.07.012"">10.1016/j.ijporl.2004.07.012</a>"
H00884,家族性進行性色素増加症,,,"Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease.",皮膚疾患,,KITLG [HSA:4254] [KO:K05461],,,,,,"ICD-11: EC23.0
 ICD-10: L81.8
 MeSH: C564163
 OMIM: 145250","PMID:21368769
 著者        Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
 タイトル      KITLG mutations cause familial progressive hyper- and hypopigmentation.
 雑誌        J Invest Dermatol 131:1234-9 (2011)
 DOI:10.1038/jid.2011.29
 PMID:15708290
 著者        Passeron T, Mantoux F, Ortonne JP
 タイトル      Genetic disorders of pigmentation.
 雑誌        Clin Dermatol 23:56-67 (2005)
 DOI:10.1016/j.clindermatol.2004.09.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00884"">H00884</a>",家族性進行性色素増加症,"Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease.",,"KITLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4254"">4254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05461"">K05461</a>]",,,,,,"ICD-11: EC23.0
 ICD-10: L81.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564163"">C564163</a>
 OMIM: <a href=""https://www.omim.org/entry/145250"">145250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21368769"">21368769</a>
 著者        Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
 タイトル      KITLG mutations cause familial progressive hyper- and hypopigmentation.
 雑誌        J Invest Dermatol 131:1234-9 (2011)
 DOI:<a href=""https://doi.org/10.1038/jid.2011.29"">10.1038/jid.2011.29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708290"">15708290</a>
 著者        Passeron T, Mantoux F, Ortonne JP
 タイトル      Genetic disorders of pigmentation.
 雑誌        Clin Dermatol 23:56-67 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.013"">10.1016/j.clindermatol.2004.09.013</a>"
H00885,"色素失調症;
 伊藤白斑",,,"Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.",皮膚疾患,,chromosomal mosaicism,,,,,,"ICD-11: EC23.2Y
 ICD-10: L81.8
 MeSH: D010859
 OMIM: 300337","PMID:15708290
 著者        Passeron T, Mantoux F, Ortonne JP
 タイトル      Genetic disorders of pigmentation.
 雑誌        Clin Dermatol 23:56-67 (2005)
 DOI:10.1016/j.clindermatol.2004.09.013
 PMID:22150346
 著者        Torchia D
 タイトル      Mosaic pigmentation disorders and associated syndromes.
 雑誌        J Dermatol 39:414-5 (2012)
 DOI:10.1111/j.1346-8138.2011.01337.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00885"">H00885</a>","色素失調症;
 伊藤白斑","Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.",,chromosomal mosaicism,,,,,,"ICD-11: EC23.2Y
 ICD-10: L81.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010859"">D010859</a>
 OMIM: <a href=""https://www.omim.org/entry/300337"">300337</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708290"">15708290</a>
 著者        Passeron T, Mantoux F, Ortonne JP
 タイトル      Genetic disorders of pigmentation.
 雑誌        Clin Dermatol 23:56-67 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2004.09.013"">10.1016/j.clindermatol.2004.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22150346"">22150346</a>
 著者        Torchia D
 タイトル      Mosaic pigmentation disorders and associated syndromes.
 雑誌        J Dermatol 39:414-5 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2011.01337.x"">10.1111/j.1346-8138.2011.01337.x</a>"
H00886,Donnai-Barrow 症候群,,,"Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2.",先天奇形,,LRP2 [HSA:4036] [KO:K06233],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536390
 OMIM: 222448","PMID:20301732
 著者        Kantarci S, Donnai D, Noonan KM, Pober BR
 タイトル      Donnai-Barrow Syndrome
 雑誌        GeneReviews (1993)
 PMID:19089858
 著者        Pober BR, Longoni M, Noonan KM
 タイトル      A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
 雑誌        Birth Defects Res A Clin Mol Teratol 85:76-81 (2009)
 DOI:10.1002/bdra.20534
 PMID:18553518
 著者        Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR
 タイトル      Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
 雑誌        Am J Med Genet A 146A:1842-7 (2008)
 DOI:10.1002/ajmg.a.32381","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00886"">H00886</a>",Donnai-Barrow 症候群,"Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2.",,"LRP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4036"">4036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06233"">K06233</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536390"">C536390</a>
 OMIM: <a href=""https://www.omim.org/entry/222448"">222448</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301732"">20301732</a>
 著者        Kantarci S, Donnai D, Noonan KM, Pober BR
 タイトル      Donnai-Barrow Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19089858"">19089858</a>
 著者        Pober BR, Longoni M, Noonan KM
 タイトル      A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
 雑誌        Birth Defects Res A Clin Mol Teratol 85:76-81 (2009)
 DOI:<a href=""https://doi.org/10.1002/bdra.20534"">10.1002/bdra.20534</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18553518"">18553518</a>
 著者        Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR
 タイトル      Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
 雑誌        Am J Med Genet A 146A:1842-7 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32381"">10.1002/ajmg.a.32381</a>"
H00887,Lipoprotein glomerulopathy,,,"Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually present with proteinuria and hypertension, microhematuria is rare, and renal function becomes impaired. Rare mutations in apolipoprotein E (apoE) gene may contribute to the pathogenesis of the disease.",,,APOE [HSA:348] [KO:K04524],,,,,,"ICD-11: MF82
 MeSH: C567089
 OMIM: 611771","PMID:21464714
 著者        Tsimihodimos V, Elisaf M
 タイトル      Lipoprotein glomerulopathy.
 雑誌        Curr Opin Lipidol 22:262-9 (2011)
 DOI:10.1097/MOL.0b013e328345ebb0
 PMID:16490634
 著者        Sam R, Wu H, Yue L, Mazzone T, Schwartz MM, Arruda JA, Dunea G, Singh AK
 タイトル      Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding.
 雑誌        Am J Kidney Dis 47:539-48 (2006)
 DOI:10.1053/j.ajkd.2005.12.031
 PMID:16431249
 著者        Saito T, Matsunaga A, Oikawa S
 タイトル      Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases.
 雑誌        Am J Kidney Dis 47:199-211 (2006)
 DOI:10.1053/j.ajkd.2005.10.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00887"">H00887</a>",Lipoprotein glomerulopathy,"Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually present with proteinuria and hypertension, microhematuria is rare, and renal function becomes impaired. Rare mutations in apolipoprotein E (apoE) gene may contribute to the pathogenesis of the disease.",,"APOE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348"">348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04524"">K04524</a>]",,,,,,"ICD-11: MF82
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567089"">C567089</a>
 OMIM: <a href=""https://www.omim.org/entry/611771"">611771</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21464714"">21464714</a>
 著者        Tsimihodimos V, Elisaf M
 タイトル      Lipoprotein glomerulopathy.
 雑誌        Curr Opin Lipidol 22:262-9 (2011)
 DOI:<a href=""https://doi.org/10.1097/MOL.0b013e328345ebb0"">10.1097/MOL.0b013e328345ebb0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16490634"">16490634</a>
 著者        Sam R, Wu H, Yue L, Mazzone T, Schwartz MM, Arruda JA, Dunea G, Singh AK
 タイトル      Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding.
 雑誌        Am J Kidney Dis 47:539-48 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.ajkd.2005.12.031"">10.1053/j.ajkd.2005.12.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16431249"">16431249</a>
 著者        Saito T, Matsunaga A, Oikawa S
 タイトル      Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases.
 雑誌        Am J Kidney Dis 47:199-211 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.ajkd.2005.10.017"">10.1053/j.ajkd.2005.10.017</a>"
H00888,低リン酸血症に関係する腎結石症と骨粗鬆症,,,"Nephrolithiasis/osteoporosis, hypophosphatemic is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in NPT2A, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking NPT2A.",泌尿器系疾患; 筋骨格疾患,,"(type 1) NPT2A [HSA:6569] [KO:K14683]
 (type 2) NHERF1 [HSA:9368] [KO:K13365]",,,,,,"MeSH: C567363 C567362
 OMIM: 612286 612287","PMID:20924400
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:10.1038/nrneph.2010.121
 PMID:15483460
 著者        Prie D, Beck L, Friedlander G, Silve C
 タイトル      Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization.
 雑誌        Curr Opin Nephrol Hypertens 13:675-81 (2004)
 DOI:10.1097/00041552-200411000-00015
 PMID:12324554
 著者        Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G
 タイトル      Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
 雑誌        N Engl J Med 347:983-91 (2002)
 DOI:10.1056/NEJMoa020028
 PMID:18784102
 著者        Karim Z, Gerard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prie D
 タイトル      NHERF1 mutations and responsiveness of renal parathyroid hormone.
 雑誌        N Engl J Med 359:1128-35 (2008)
 DOI:10.1056/NEJMoa0802836","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00888"">H00888</a>",低リン酸血症に関係する腎結石症と骨粗鬆症,"Nephrolithiasis/osteoporosis, hypophosphatemic is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in NPT2A, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking NPT2A.",,"(type 1) NPT2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6569"">6569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]
 (type 2) NHERF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9368"">9368</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13365"">K13365</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567363"">C567363</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567362"">C567362</a>
 OMIM: <a href=""https://www.omim.org/entry/612286"">612286</a> <a href=""https://www.omim.org/entry/612287"">612287</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20924400"">20924400</a>
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrneph.2010.121"">10.1038/nrneph.2010.121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15483460"">15483460</a>
 著者        Prie D, Beck L, Friedlander G, Silve C
 タイトル      Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization.
 雑誌        Curr Opin Nephrol Hypertens 13:675-81 (2004)
 DOI:<a href=""https://doi.org/10.1097/00041552-200411000-00015"">10.1097/00041552-200411000-00015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12324554"">12324554</a>
 著者        Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G
 タイトル      Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
 雑誌        N Engl J Med 347:983-91 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa020028"">10.1056/NEJMoa020028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18784102"">18784102</a>
 著者        Karim Z, Gerard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prie D
 タイトル      NHERF1 mutations and responsiveness of renal parathyroid hormone.
 雑誌        N Engl J Med 359:1128-35 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0802836"">10.1056/NEJMoa0802836</a>"
H00889,"Lujan-Fryns 症候群;
 マルファン体型を伴う X連鎖性精神遅滞",,,"Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum.",先天奇形,,MED12 [HSA:9968] [KO:K15162],,,,,"A recurrent mutation (c.2881C->T, p.R961W) in exon 21 of MED12 gene has been found in the family with FGS. A separate sequence alteration (c.3020A->G, p.N1007S) in exon 22 of the MED12 gene has been found in the family with LFS.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537724
 OMIM: 309520","PMID:17369503 (description, gene, comment)
 著者        Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE
 タイトル      The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
 雑誌        J Med Genet 44:472-7 (2007)
 DOI:10.1136/jmg.2006.048637
 PMID:20301719
 著者        Lyons MJ
 タイトル      MED12-Related Disorders
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00889"">H00889</a>","Lujan-Fryns 症候群;
 マルファン体型を伴う X連鎖性精神遅滞","Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum.",,"MED12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9968"">9968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15162"">K15162</a>]",,,,,"A recurrent mutation (c.2881C->T, p.R961W) in exon 21 of MED12 gene has been found in the family with FGS. A separate sequence alteration (c.3020A->G, p.N1007S) in exon 22 of the MED12 gene has been found in the family with LFS.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537724"">C537724</a>
 OMIM: <a href=""https://www.omim.org/entry/309520"">309520</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17369503"">17369503</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE
 タイトル      The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
 雑誌        J Med Genet 44:472-7 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.048637"">10.1136/jmg.2006.048637</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301719"">20301719</a>
 著者        Lyons MJ
 タイトル      MED12-Related Disorders
 雑誌        GeneReviews (1993)"
H00890,"無精子症
 下位グループ    精子形成異常-4
 上位グループ    精子形成異常 [DS:H01282]",,,Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.,生殖系疾患,,"USP9Y [HSA:8287] [KO:K11840]
 (meiosis) SYCP3 [HSA:50511] [KO:K19528]",,,,,,"ICD-11: GB04.0
 ICD-10: N46
 MeSH: D053713 C536875
 OMIM: 415000 270960","PMID:21195467
 著者        Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A
 タイトル      Role of genetics in azoospermia.
 雑誌        Urology 77:598-601 (2011)
 DOI:10.1016/j.urology.2010.10.001
 PMID:19246366
 著者        Tyler-Smith C, Krausz C
 タイトル      The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene.
 雑誌        N Engl J Med 360:925-7 (2009)
 DOI:10.1056/NEJMe0900301
 PMID:19246359
 著者        Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P
 タイトル      Spermatogenesis in a man with complete deletion of USP9Y.
 雑誌        N Engl J Med 360:881-5 (2009)
 DOI:10.1056/NEJMoa0806218
 PMID:14643120
 著者        Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ
 タイトル      Azoospermia in patients heterozygous for a mutation in SYCP3.
 雑誌        Lancet 362:1714-9 (2003)
 DOI:10.1016/S0140-6736(03)14845-3
 PMID:19110213
 著者        Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H
 タイトル      Mutations of the SYCP3 gene in women with recurrent pregnancy loss.
 雑誌        Am J Hum Genet 84:14-20 (2009)
 DOI:10.1016/j.ajhg.2008.12.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00890"">H00890</a>","無精子症
 下位グループ    精子形成異常-4
 上位グループ    精子形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01282"">H01282</a>]",Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.,,"USP9Y [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8287"">8287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11840"">K11840</a>]
 (meiosis) SYCP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50511"">50511</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19528"">K19528</a>]",,,,,,"ICD-11: GB04.0
 ICD-10: N46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053713"">D053713</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536875"">C536875</a>
 OMIM: <a href=""https://www.omim.org/entry/415000"">415000</a> <a href=""https://www.omim.org/entry/270960"">270960</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21195467"">21195467</a>
 著者        Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A
 タイトル      Role of genetics in azoospermia.
 雑誌        Urology 77:598-601 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.urology.2010.10.001"">10.1016/j.urology.2010.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246366"">19246366</a>
 著者        Tyler-Smith C, Krausz C
 タイトル      The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene.
 雑誌        N Engl J Med 360:925-7 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMe0900301"">10.1056/NEJMe0900301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246359"">19246359</a>
 著者        Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P
 タイトル      Spermatogenesis in a man with complete deletion of USP9Y.
 雑誌        N Engl J Med 360:881-5 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0806218"">10.1056/NEJMoa0806218</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14643120"">14643120</a>
 著者        Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ
 タイトル      Azoospermia in patients heterozygous for a mutation in SYCP3.
 雑誌        Lancet 362:1714-9 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14845-3"">10.1016/S0140-6736(03)14845-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19110213"">19110213</a>
 著者        Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H
 タイトル      Mutations of the SYCP3 gene in women with recurrent pregnancy loss.
 雑誌        Am J Hum Genet 84:14-20 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.002"">10.1016/j.ajhg.2008.12.002</a>"
H00891,"複合型酸化的リン酸化異常
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS) cause severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported.",先天代謝異常症; ミトコンドリア病,,"(COXPD1) GFM1 [HSA:85476] [KO:K02355]
 (COXPD2) MRPS16 [HSA:51021] [KO:K02959]
 (COXPD3) TSFM [HSA:10102] [KO:K02357]
 (COXPD4) TUFM [HSA:7284] [KO:K02358]
 (COXPD5) MRPS22 [HSA:56945] [KO:K17401]
 (COXPD6) AIFM1 [HSA:9131] [KO:K04727]
 (COXPD7) MTRFR [HSA:91574] [KO:K23498]
 (COXPD8) AARS2 [HSA:57505] [KO:K01872]
 (COXPD9) MRPL3 [HSA:11222] [KO:K02906]
 (COXPD10) MTO1 [HSA:25821] [KO:K03495]
 (COXPD11) RMND1 [HSA:55005] [KO:K23499]
 (COXPD12) EARS2 [HSA:124454] [KO:K01885]
 (COXPD13) PNPT1 [HSA:87178] [KO:K00962]
 (COXPD14) FARS2 [HSA:10667] [KO:K01889]
 (COXPD15) MTFMT [HSA:123263] [KO:K00604]
 (COXPD16) MRPL44 [HSA:65080] [KO:K17425]
 (COXPD17) ELAC2 [HSA:60528] [KO:K00784]
 (COXPD18) SFXN4 [HSA:119559] [KO:K23502]
 (COXPD19) LYRM4 [HSA:57128] [KO:K22069]
 (COXPD20) VARS2 [HSA:57176] [KO:K01873]
 (COXPD21) TARS2 [HSA:80222] [KO:K01868]
 (COXPD22) ATP5A1 [HSA:498] [KO:K02132]
 (COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
 (COXPD24) NARS2 [HSA:79731] [KO:K01893]
 (COXPD25) MARS2 [HSA:92935] [KO:K01874]
 (COXPD26) TRMT5 [HSA:57570] [KO:K15429]
 (COXPD27) CARS2 [HSA:79587] [KO:K01883]
 (COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
 (COXPD29) TXN2 [HSA:25828] [KO:K03671]
 (COXPD30) TRMT10C [HSA:54931] [KO:K17654]
 (COXPD31) MIPEP [HSA:4285] [KO:K01410]
 (COXPD32) MRPS34 [HSA:65993] [KO:K17412]
 (COXPD33) C1QBP [HSA:708] [KO:K15414]
 (COXPD34) MRPS7 [HSA:51081] [KO:K02992]
 (COXPD35) TRIT1 [HSA:54802] [KO:K00791]
 (COXPD36) MRPS2 [HSA:51116] [KO:K02967]
 (COXPD37) MICOS13 [HSA:125988] [KO:K24624]
 (COXPD38) MRPS14 [HSA:63931] [KO:K02954]
 (COXPD39) GFM2 [HSA:84340] [KO:K02355]
 (COXPD40) QRSL1 [HSA:55278] [KO:K02433]
 (COXPD41) GATB [HSA:5188] [KO:K02434]
 (COXPD42) GATC [HSA:283459] [KO:K02435]
 (COXPD43) TIMM22 [HSA:29928] [KO:K17790]
 (COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
 (COXPD45) MRPL12 [HSA:6182] [KO:K02935]
 (COXPD46) MRPS23 [HSA:51649] [KO:K17402]
 (COXPD47) MRPS28 [HSA:28957] [KO:K17407]
 (COXPD48) NSUN3 [HSA:63899] [KO:K21969]
 (COXPD49) MIEF2 [HSA:125170] [KO:K23507]
 (COXPD50) MRPS25 [HSA:64432] [KO:K17404]
 (COXPD51) PTCD3 [HSA:55037] [KO:K17659]
 (COXPD52) NFS1 [HSA:9054] [KO:K04487]
 (COXPD53) C2orf69 [HSA:205327]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: C563797 C566468 C566467 C565690 C567126
 OMIM: 609060 610498 610505 610678 611719 300816 613559 614096 614582 614702 614922 614924 614932 614946 614947 615395 615440 615578 615595 615917 615918 616045 616198 616239 616430 616539 616672 616794 616811 616974 617228 617664 617713 617872 617873 617950 618329 618378 618397 618835 618838 618839 618851 618855 618951 618952 618958 619012 619024 619025 619057 619386	619423","PMID:21169334 (COXPD1-4)
 著者        Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R
 タイトル      Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
 雑誌        Brain 134:183-95 (2011)
 DOI:10.1093/brain/awq320
 PMID:15505824 (COXPD2)
 著者        Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O
 タイトル      Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
 雑誌        Ann Neurol 56:734-8 (2004)
 DOI:10.1002/ana.20282
 PMID:17033963 (COXPD3)
 著者        Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA
 タイトル      Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
 雑誌        Am J Hum Genet 79:869-77 (2006)
 DOI:10.1086/508434
 PMID:17160893 (COXPD4)
 著者        Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M
 タイトル      Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
 雑誌        Am J Hum Genet 80:44-58 (2007)
 DOI:10.1086/510559
 PMID:17873122 (COXPD5)
 著者        Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O
 タイトル      Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
 雑誌        J Med Genet 44:784-6 (2007)
 DOI:10.1136/jmg.2007.053116
 PMID:20362274 (COXPD6)
 著者        Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M
 タイトル      Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
 雑誌        Am J Hum Genet 86:639-49 (2010)
 DOI:10.1016/j.ajhg.2010.03.002
 PMID:20598281 (COXPD7)
 著者        Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA
 タイトル      Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
 雑誌        Am J Hum Genet 87:115-22 (2010)
 DOI:10.1016/j.ajhg.2010.06.004
 PMID:25058219 (COXPD8-17)
 著者        Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF
 タイトル      Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
 雑誌        JAMA 312:68-77 (2014)
 DOI:10.1001/jama.2014.7184
 PMID:21786366 (COXPD9)
 著者        Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rotig A
 タイトル      Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
 雑誌        Hum Mutat 32:1225-31 (2011)
 DOI:10.1002/humu.21562
 PMID:22492562 (COXPD12)
 著者        Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M
 タイトル      Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
 雑誌        Brain 135:1387-94 (2012)
 DOI:10.1093/brain/aws070
 PMID:23084291 (COXPD13)
 著者        Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rotig A
 タイトル      Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
 雑誌        Am J Hum Genet 91:912-8 (2012)
 DOI:10.1016/j.ajhg.2012.09.001
 PMID:24161539 (COXPD14)
 著者        Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM
 タイトル      Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
 雑誌        Biochim Biophys Acta 1842:56-64 (2014)
 DOI:10.1016/j.bbadis.2013.10.008
 PMID:23499752 (COXPD15)
 著者        Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R
 タイトル      Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
 雑誌        Mitochondrion 13:743-8 (2013)
 DOI:10.1016/j.mito.2013.03.002
 PMID:23315540 (COXPD16)
 著者        Carroll CJ, Isohanni P, Poyhonen R, Euro L, Richter U, Brilhante V, Gotz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A
 タイトル      Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
 雑誌        J Med Genet 50:151-9 (2013)
 DOI:10.1136/jmedgenet-2012-101375
 PMID:23849775 (COXPD17)
 著者        Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H
 タイトル      ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
 雑誌        Am J Hum Genet 93:211-23 (2013)
 DOI:10.1016/j.ajhg.2013.06.006
 PMID:24119684 (COXPD18)
 著者        Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH
 タイトル      Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
 雑誌        Am J Hum Genet 93:906-14 (2013)
 DOI:10.1016/j.ajhg.2013.09.011
 PMID:23814038 (COXPD19)
 著者        Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkuhler S, Thorburn DR, Compton AG
 タイトル      Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
 雑誌        Hum Mol Genet 22:4460-73 (2013)
 DOI:10.1093/hmg/ddt295
 PMID:24827421 (COXPD20_21)
 著者        Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D
 タイトル      VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
 雑誌        Hum Mutat 35:983-9 (2014)
 DOI:10.1002/humu.22590
 PMID:23596069 (COXPD22)
 著者        Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK
 タイトル      Targeted exome sequencing of suspected mitochondrial disorders.
 雑誌        Neurology 80:1762-70 (2013)
 DOI:10.1212/WNL.0b013e3182918c40
 PMID:25434004 (COXPD23)
 著者        Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Regal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rotig A, Haack TB, Minczuk M, Prokisch H
 タイトル      Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
 雑誌        Am J Hum Genet 95:708-20 (2014)
 DOI:10.1016/j.ajhg.2014.10.017
 PMID:25629079 (COXPD24_25)
 著者        Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J
 タイトル      Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
 雑誌        Mol Genet Genomic Med 3:59-68 (2015)
 DOI:10.1002/mgg3.115
 PMID:25754315 (COXPD25)
 著者        Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE
 タイトル      Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
 雑誌        Hum Mutat 36:587-92 (2015)
 DOI:10.1002/humu.22781
 PMID:26189817 (COXPD26)
 著者        Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M
 タイトル      TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
 雑誌        Am J Hum Genet 97:319-28 (2015)
 DOI:10.1016/j.ajhg.2015.06.011
 PMID:25787132 (COXPD27)
 著者        Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH
 タイトル      Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
 雑誌        J Med Genet 52:532-40 (2015)
 DOI:10.1136/jmedgenet-2015-103049
 PMID:26522469 (COXPD28)
 著者        Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monne M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A
 タイトル      Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
 雑誌        Am J Hum Genet 97:761-8 (2015)
 DOI:10.1016/j.ajhg.2015.09.013
 PMID:26626369 (COXPD29)
 著者        Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F
 タイトル      Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
 雑誌        Brain 139:346-54 (2016)
 DOI:10.1093/brain/awv350
 PMID:27132592 (COXPD30)
 著者        Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW
 タイトル      Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
 雑誌        Am J Hum Genet 98:993-1000 (2016)
 DOI:10.1016/j.ajhg.2016.03.010
 PMID:27799064 (COXPD31)
 著者        Eldomery MK, Akdemir ZC, Vogtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR
 タイトル      MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
 雑誌        Genome Med 8:106 (2016)
 DOI:10.1186/s13073-016-0360-6
 PMID:28777931 (COXPD32)
 著者        Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rotig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR
 タイトル      Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
 雑誌        Am J Hum Genet 101:239-254 (2017)
 DOI:10.1016/j.ajhg.2017.07.005
 PMID:28942965 (COXPD33)
 著者        Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H
 タイトル      Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
 雑誌        Am J Hum Genet 101:525-538 (2017)
 DOI:10.1016/j.ajhg.2017.08.015
 PMID:27485409 (COXPD37)
 著者        Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, Shaag A, Nunnari J, Elpeleg O
 タイトル      Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.
 雑誌        Eur J Hum Genet 24:1778-1782 (2016)
 DOI:10.1038/ejhg.2016.83
 PMID:30283131 (COXPD40_41_42)
 著者        Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonzalez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernandez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK
 タイトル      Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
 雑誌        Nat Commun 9:4065 (2018)
 DOI:10.1038/s41467-018-06250-w
 PMID:31039582 (COXPD50)
 著者        Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A
 タイトル      MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
 雑誌        Hum Mol Genet 28:2711-2719 (2019)
 DOI:10.1093/hmg/ddz093
 PMID:30607703 (COXPD51)
 著者        Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y
 タイトル      Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
 雑誌        Neurogenetics 20:9-25 (2019)
 DOI:10.1007/s10048-018-0561-9
 PMID:24498631 (COXPD52)
 著者        Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA
 タイトル      Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.
 雑誌        Mol Genet Genomic Med 2:73-80 (2014)
 DOI:10.1002/mgg3.46
 PMID:33945503 (COXPD53)
 著者        Lausberg E, Giesselmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Hausler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F
 タイトル      C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
 雑誌        J Clin Invest 131:143078 (2021)
 DOI:10.1172/JCI143078","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00891"">H00891</a>","複合型酸化的リン酸化異常
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS) cause severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported.",,"(COXPD1) GFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85476"">85476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02355"">K02355</a>]
 (COXPD2) MRPS16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51021"">51021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02959"">K02959</a>]
 (COXPD3) TSFM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10102"">10102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02357"">K02357</a>]
 (COXPD4) TUFM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7284"">7284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02358"">K02358</a>]
 (COXPD5) MRPS22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56945"">56945</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17401"">K17401</a>]
 (COXPD6) AIFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9131"">9131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04727"">K04727</a>]
 (COXPD7) MTRFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91574"">91574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23498"">K23498</a>]
 (COXPD8) AARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57505"">57505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]
 (COXPD9) MRPL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11222"">11222</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02906"">K02906</a>]
 (COXPD10) MTO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25821"">25821</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03495"">K03495</a>]
 (COXPD11) RMND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55005"">55005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23499"">K23499</a>]
 (COXPD12) EARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124454"">124454</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01885"">K01885</a>]
 (COXPD13) PNPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:87178"">87178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00962"">K00962</a>]
 (COXPD14) FARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10667"">10667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01889"">K01889</a>]
 (COXPD15) MTFMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123263"">123263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00604"">K00604</a>]
 (COXPD16) MRPL44 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65080"">65080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17425"">K17425</a>]
 (COXPD17) ELAC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60528"">60528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00784"">K00784</a>]
 (COXPD18) SFXN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:119559"">119559</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23502"">K23502</a>]
 (COXPD19) LYRM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57128"">57128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22069"">K22069</a>]
 (COXPD20) VARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57176"">57176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01873"">K01873</a>]
 (COXPD21) TARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80222"">80222</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01868"">K01868</a>]
 (COXPD22) ATP5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:498"">498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02132"">K02132</a>]
 (COXPD23) GTPBP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84705"">84705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03650"">K03650</a>]
 (COXPD24) NARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79731"">79731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01893"">K01893</a>]
 (COXPD25) MARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92935"">92935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01874"">K01874</a>]
 (COXPD26) TRMT5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57570"">57570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15429"">K15429</a>]
 (COXPD27) CARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79587"">79587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01883"">K01883</a>]
 (COXPD28) SLC25A26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:115286"">115286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15111"">K15111</a>]
 (COXPD29) TXN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25828"">25828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03671"">K03671</a>]
 (COXPD30) TRMT10C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54931"">54931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17654"">K17654</a>]
 (COXPD31) MIPEP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4285"">4285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01410"">K01410</a>]
 (COXPD32) MRPS34 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65993"">65993</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17412"">K17412</a>]
 (COXPD33) C1QBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:708"">708</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15414"">K15414</a>]
 (COXPD34) MRPS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51081"">51081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02992"">K02992</a>]
 (COXPD35) TRIT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54802"">54802</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00791"">K00791</a>]
 (COXPD36) MRPS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51116"">51116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02967"">K02967</a>]
 (COXPD37) MICOS13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:125988"">125988</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24624"">K24624</a>]
 (COXPD38) MRPS14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63931"">63931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02954"">K02954</a>]
 (COXPD39) GFM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84340"">84340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02355"">K02355</a>]
 (COXPD40) QRSL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55278"">55278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02433"">K02433</a>]
 (COXPD41) GATB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5188"">5188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02434"">K02434</a>]
 (COXPD42) GATC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283459"">283459</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02435"">K02435</a>]
 (COXPD43) TIMM22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29928"">29928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17790"">K17790</a>]
 (COXPD44) FASTKD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22868"">22868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18190"">K18190</a>]
 (COXPD45) MRPL12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6182"">6182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02935"">K02935</a>]
 (COXPD46) MRPS23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51649"">51649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17402"">K17402</a>]
 (COXPD47) MRPS28 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28957"">28957</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17407"">K17407</a>]
 (COXPD48) NSUN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63899"">63899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21969"">K21969</a>]
 (COXPD49) MIEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:125170"">125170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23507"">K23507</a>]
 (COXPD50) MRPS25 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64432"">64432</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17404"">K17404</a>]
 (COXPD51) PTCD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55037"">55037</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17659"">K17659</a>]
 (COXPD52) NFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9054"">9054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04487"">K04487</a>]
 (COXPD53) C2orf69 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:205327"">205327</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563797"">C563797</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566468"">C566468</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566467"">C566467</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565690"">C565690</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567126"">C567126</a>
 OMIM: <a href=""https://www.omim.org/entry/609060"">609060</a> <a href=""https://www.omim.org/entry/610498"">610498</a> <a href=""https://www.omim.org/entry/610505"">610505</a> <a href=""https://www.omim.org/entry/610678"">610678</a> <a href=""https://www.omim.org/entry/611719"">611719</a> <a href=""https://www.omim.org/entry/300816"">300816</a> <a href=""https://www.omim.org/entry/613559"">613559</a> <a href=""https://www.omim.org/entry/614096"">614096</a> <a href=""https://www.omim.org/entry/614582"">614582</a> <a href=""https://www.omim.org/entry/614702"">614702</a> <a href=""https://www.omim.org/entry/614922"">614922</a> <a href=""https://www.omim.org/entry/614924"">614924</a> <a href=""https://www.omim.org/entry/614932"">614932</a> <a href=""https://www.omim.org/entry/614946"">614946</a> <a href=""https://www.omim.org/entry/614947"">614947</a> <a href=""https://www.omim.org/entry/615395"">615395</a> <a href=""https://www.omim.org/entry/615440"">615440</a> <a href=""https://www.omim.org/entry/615578"">615578</a> <a href=""https://www.omim.org/entry/615595"">615595</a> <a href=""https://www.omim.org/entry/615917"">615917</a> <a href=""https://www.omim.org/entry/615918"">615918</a> <a href=""https://www.omim.org/entry/616045"">616045</a> <a href=""https://www.omim.org/entry/616198"">616198</a> <a href=""https://www.omim.org/entry/616239"">616239</a> <a href=""https://www.omim.org/entry/616430"">616430</a> <a href=""https://www.omim.org/entry/616539"">616539</a> <a href=""https://www.omim.org/entry/616672"">616672</a> <a href=""https://www.omim.org/entry/616794"">616794</a> <a href=""https://www.omim.org/entry/616811"">616811</a> <a href=""https://www.omim.org/entry/616974"">616974</a> <a href=""https://www.omim.org/entry/617228"">617228</a> <a href=""https://www.omim.org/entry/617664"">617664</a> <a href=""https://www.omim.org/entry/617713"">617713</a> <a href=""https://www.omim.org/entry/617872"">617872</a> <a href=""https://www.omim.org/entry/617873"">617873</a> <a href=""https://www.omim.org/entry/617950"">617950</a> <a href=""https://www.omim.org/entry/618329"">618329</a> <a href=""https://www.omim.org/entry/618378"">618378</a> <a href=""https://www.omim.org/entry/618397"">618397</a> <a href=""https://www.omim.org/entry/618835"">618835</a> <a href=""https://www.omim.org/entry/618838"">618838</a> <a href=""https://www.omim.org/entry/618839"">618839</a> <a href=""https://www.omim.org/entry/618851"">618851</a> <a href=""https://www.omim.org/entry/618855"">618855</a> <a href=""https://www.omim.org/entry/618951"">618951</a> <a href=""https://www.omim.org/entry/618952"">618952</a> <a href=""https://www.omim.org/entry/618958"">618958</a> <a href=""https://www.omim.org/entry/619012"">619012</a> <a href=""https://www.omim.org/entry/619024"">619024</a> <a href=""https://www.omim.org/entry/619025"">619025</a> <a href=""https://www.omim.org/entry/619057"">619057</a> <a href=""https://www.omim.org/entry/619386	619423"">619386	619423</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21169334"">21169334</a> (COXPD1-4)
 著者        Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R
 タイトル      Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
 雑誌        Brain 134:183-95 (2011)
 DOI:<a href=""https://doi.org/10.1093/brain/awq320"">10.1093/brain/awq320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15505824"">15505824</a> (COXPD2)
 著者        Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O
 タイトル      Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
 雑誌        Ann Neurol 56:734-8 (2004)
 DOI:<a href=""https://doi.org/10.1002/ana.20282"">10.1002/ana.20282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033963"">17033963</a> (COXPD3)
 著者        Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA
 タイトル      Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
 雑誌        Am J Hum Genet 79:869-77 (2006)
 DOI:<a href=""https://doi.org/10.1086/508434"">10.1086/508434</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160893"">17160893</a> (COXPD4)
 著者        Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M
 タイトル      Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
 雑誌        Am J Hum Genet 80:44-58 (2007)
 DOI:<a href=""https://doi.org/10.1086/510559"">10.1086/510559</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17873122"">17873122</a> (COXPD5)
 著者        Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O
 タイトル      Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
 雑誌        J Med Genet 44:784-6 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.053116"">10.1136/jmg.2007.053116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20362274"">20362274</a> (COXPD6)
 著者        Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M
 タイトル      Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
 雑誌        Am J Hum Genet 86:639-49 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.03.002"">10.1016/j.ajhg.2010.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20598281"">20598281</a> (COXPD7)
 著者        Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA
 タイトル      Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
 雑誌        Am J Hum Genet 87:115-22 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.06.004"">10.1016/j.ajhg.2010.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25058219"">25058219</a> (COXPD8-17)
 著者        Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF
 タイトル      Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
 雑誌        JAMA 312:68-77 (2014)
 DOI:<a href=""https://doi.org/10.1001/jama.2014.7184"">10.1001/jama.2014.7184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21786366"">21786366</a> (COXPD9)
 著者        Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rotig A
 タイトル      Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
 雑誌        Hum Mutat 32:1225-31 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21562"">10.1002/humu.21562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22492562"">22492562</a> (COXPD12)
 著者        Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M
 タイトル      Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
 雑誌        Brain 135:1387-94 (2012)
 DOI:<a href=""https://doi.org/10.1093/brain/aws070"">10.1093/brain/aws070</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23084291"">23084291</a> (COXPD13)
 著者        Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rotig A
 タイトル      Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
 雑誌        Am J Hum Genet 91:912-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.001"">10.1016/j.ajhg.2012.09.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24161539"">24161539</a> (COXPD14)
 著者        Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM
 タイトル      Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
 雑誌        Biochim Biophys Acta 1842:56-64 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2013.10.008"">10.1016/j.bbadis.2013.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23499752"">23499752</a> (COXPD15)
 著者        Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R
 タイトル      Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
 雑誌        Mitochondrion 13:743-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.mito.2013.03.002"">10.1016/j.mito.2013.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23315540"">23315540</a> (COXPD16)
 著者        Carroll CJ, Isohanni P, Poyhonen R, Euro L, Richter U, Brilhante V, Gotz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A
 タイトル      Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
 雑誌        J Med Genet 50:151-9 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101375"">10.1136/jmedgenet-2012-101375</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23849775"">23849775</a> (COXPD17)
 著者        Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H
 タイトル      ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
 雑誌        Am J Hum Genet 93:211-23 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.006"">10.1016/j.ajhg.2013.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24119684"">24119684</a> (COXPD18)
 著者        Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH
 タイトル      Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
 雑誌        Am J Hum Genet 93:906-14 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.011"">10.1016/j.ajhg.2013.09.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23814038"">23814038</a> (COXPD19)
 著者        Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkuhler S, Thorburn DR, Compton AG
 タイトル      Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
 雑誌        Hum Mol Genet 22:4460-73 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt295"">10.1093/hmg/ddt295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24827421"">24827421</a> (COXPD20_21)
 著者        Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D
 タイトル      VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
 雑誌        Hum Mutat 35:983-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22590"">10.1002/humu.22590</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23596069"">23596069</a> (COXPD22)
 著者        Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK
 タイトル      Targeted exome sequencing of suspected mitochondrial disorders.
 雑誌        Neurology 80:1762-70 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3182918c40"">10.1212/WNL.0b013e3182918c40</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25434004"">25434004</a> (COXPD23)
 著者        Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Regal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rotig A, Haack TB, Minczuk M, Prokisch H
 タイトル      Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
 雑誌        Am J Hum Genet 95:708-20 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.017"">10.1016/j.ajhg.2014.10.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25629079"">25629079</a> (COXPD24_25)
 著者        Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J
 タイトル      Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
 雑誌        Mol Genet Genomic Med 3:59-68 (2015)
 DOI:<a href=""https://doi.org/10.1002/mgg3.115"">10.1002/mgg3.115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25754315"">25754315</a> (COXPD25)
 著者        Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE
 タイトル      Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
 雑誌        Hum Mutat 36:587-92 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22781"">10.1002/humu.22781</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26189817"">26189817</a> (COXPD26)
 著者        Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M
 タイトル      TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
 雑誌        Am J Hum Genet 97:319-28 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.06.011"">10.1016/j.ajhg.2015.06.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25787132"">25787132</a> (COXPD27)
 著者        Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH
 タイトル      Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
 雑誌        J Med Genet 52:532-40 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103049"">10.1136/jmedgenet-2015-103049</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26522469"">26522469</a> (COXPD28)
 著者        Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monne M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A
 タイトル      Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
 雑誌        Am J Hum Genet 97:761-8 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.09.013"">10.1016/j.ajhg.2015.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26626369"">26626369</a> (COXPD29)
 著者        Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F
 タイトル      Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
 雑誌        Brain 139:346-54 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/awv350"">10.1093/brain/awv350</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27132592"">27132592</a> (COXPD30)
 著者        Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW
 タイトル      Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
 雑誌        Am J Hum Genet 98:993-1000 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.010"">10.1016/j.ajhg.2016.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27799064"">27799064</a> (COXPD31)
 著者        Eldomery MK, Akdemir ZC, Vogtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR
 タイトル      MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
 雑誌        Genome Med 8:106 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13073-016-0360-6"">10.1186/s13073-016-0360-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28777931"">28777931</a> (COXPD32)
 著者        Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rotig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR
 タイトル      Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
 雑誌        Am J Hum Genet 101:239-254 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.005"">10.1016/j.ajhg.2017.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28942965"">28942965</a> (COXPD33)
 著者        Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H
 タイトル      Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
 雑誌        Am J Hum Genet 101:525-538 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.015"">10.1016/j.ajhg.2017.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27485409"">27485409</a> (COXPD37)
 著者        Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, Shaag A, Nunnari J, Elpeleg O
 タイトル      Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.
 雑誌        Eur J Hum Genet 24:1778-1782 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.83"">10.1038/ejhg.2016.83</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30283131"">30283131</a> (COXPD40_41_42)
 著者        Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonzalez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernandez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK
 タイトル      Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
 雑誌        Nat Commun 9:4065 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41467-018-06250-w"">10.1038/s41467-018-06250-w</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31039582"">31039582</a> (COXPD50)
 著者        Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A
 タイトル      MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
 雑誌        Hum Mol Genet 28:2711-2719 (2019)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddz093"">10.1093/hmg/ddz093</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30607703"">30607703</a> (COXPD51)
 著者        Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y
 タイトル      Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
 雑誌        Neurogenetics 20:9-25 (2019)
 DOI:<a href=""https://doi.org/10.1007/s10048-018-0561-9"">10.1007/s10048-018-0561-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24498631"">24498631</a> (COXPD52)
 著者        Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA
 タイトル      Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.
 雑誌        Mol Genet Genomic Med 2:73-80 (2014)
 DOI:<a href=""https://doi.org/10.1002/mgg3.46"">10.1002/mgg3.46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33945503"">33945503</a> (COXPD53)
 著者        Lausberg E, Giesselmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Hausler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F
 タイトル      C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
 雑誌        J Clin Invest 131:143078 (2021)
 DOI:<a href=""https://doi.org/10.1172/JCI143078"">10.1172/JCI143078</a>"
H00892,気管支拡張症,,,"Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown to have mutations in the epithelial sodium channel ENaC. Furthermore, a three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patients.",呼吸器疾患,,"SCNN1B [HSA:6338] [KO:K04825]
 SCNN1A [HSA:6337] [KO:K04824]
 SCNN1G [HSA:6340] [KO:K04827]",,,,"dl-イソプレナリン塩酸塩 [DR:D01390]
 デキストロメトルファン臭化水素酸塩水和物 [DR:D00848]
 クロペラスチンフェンジゾ酸塩 [DR:D01569]
 クロペラスチン塩酸塩 [DR:D01609]
 アセチルシステイン [DR:D00221]
 L-カルボシステイン [DR:D00175]
 フドステイン [DR:D01845]
 アンブロキソール塩酸塩 [DR:D01479]
 エプラジノン塩酸塩 [DR:D01106]
 チペピジンヒベンズ酸塩 [DR:D01495]
 テルブタリン硫酸塩 [DR:D00688]",,"ICD-11: CA24
 ICD-10: J47
 MeSH: D001987
 OMIM: 211400 613021 613071","PMID:22211147
 著者        Rademacher J, Welte T
 タイトル      Bronchiectasis-diagnosis and treatment.
 雑誌        Dtsch Arztebl Int 108:809-15 (2011)
 DOI:10.3238/arztebl.2011.0809
 PMID:18507830
 著者        Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T
 タイトル      Could a defective epithelial sodium channel lead to bronchiectasis.
 雑誌        Respir Res 9:46 (2008)
 DOI:10.1186/1465-9921-9-46
 PMID:19462466
 著者        Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher C, Cuppens H
 タイトル      Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
 雑誌        Hum Mutat 30:1093-103 (2009)
 DOI:10.1002/humu.21011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00892"">H00892</a>",気管支拡張症,"Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown to have mutations in the epithelial sodium channel ENaC. Furthermore, a three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patients.",,"SCNN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6338"">6338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04825"">K04825</a>]
 SCNN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6337"">6337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04824"">K04824</a>]
 SCNN1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6340"">6340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04827"">K04827</a>]",,,,"dl-イソプレナリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01390"">D01390</a>]
 デキストロメトルファン臭化水素酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00848"">D00848</a>]
 クロペラスチンフェンジゾ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01569"">D01569</a>]
 クロペラスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01609"">D01609</a>]
 アセチルシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00221"">D00221</a>]
 L-カルボシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00175"">D00175</a>]
 フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]
 アンブロキソール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01479"">D01479</a>]
 エプラジノン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01106"">D01106</a>]
 チペピジンヒベンズ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01495"">D01495</a>]
 テルブタリン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00688"">D00688</a>]",,"ICD-11: CA24
 ICD-10: J47
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001987"">D001987</a>
 OMIM: <a href=""https://www.omim.org/entry/211400"">211400</a> <a href=""https://www.omim.org/entry/613021"">613021</a> <a href=""https://www.omim.org/entry/613071"">613071</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22211147"">22211147</a>
 著者        Rademacher J, Welte T
 タイトル      Bronchiectasis-diagnosis and treatment.
 雑誌        Dtsch Arztebl Int 108:809-15 (2011)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2011.0809"">10.3238/arztebl.2011.0809</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18507830"">18507830</a>
 著者        Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T
 タイトル      Could a defective epithelial sodium channel lead to bronchiectasis.
 雑誌        Respir Res 9:46 (2008)
 DOI:<a href=""https://doi.org/10.1186/1465-9921-9-46"">10.1186/1465-9921-9-46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19462466"">19462466</a>
 著者        Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher C, Cuppens H
 タイトル      Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
 雑誌        Hum Mutat 30:1093-103 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21011"">10.1002/humu.21011</a>"
H00893,Skin fragility-woolly hair 症候群,,,"Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. Patients with skin fragility-woolly hair syndrome present with symptoms including focal and diffuse palmoplantar keratoderma, woolly hair, varying degrees of alopecia, and dystrophic nails. Unlike other disorders associated with desmoplakin mutation, no cardiac symptoms are reported in this disease.",先天奇形,,DSP [HSA:1832] [KO:K10381],,,,,,"ICD-11: EC21.1
 ICD-10: Q82.8
 MeSH: C564359
 OMIM: 607655","PMID:20738328
 著者        Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B
 タイトル      Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
 雑誌        Clin Genet 80:50-8 (2011)
 DOI:10.1111/j.1399-0004.2010.01518.x
 PMID:11841538
 著者        Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA
 タイトル      Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
 雑誌        J Invest Dermatol 118:232-8 (2002)
 DOI:10.1046/j.0022-202x.2001.01664.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00893"">H00893</a>",Skin fragility-woolly hair 症候群,"Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. Patients with skin fragility-woolly hair syndrome present with symptoms including focal and diffuse palmoplantar keratoderma, woolly hair, varying degrees of alopecia, and dystrophic nails. Unlike other disorders associated with desmoplakin mutation, no cardiac symptoms are reported in this disease.",,"DSP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1832"">1832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10381"">K10381</a>]",,,,,,"ICD-11: EC21.1
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564359"">C564359</a>
 OMIM: <a href=""https://www.omim.org/entry/607655"">607655</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20738328"">20738328</a>
 著者        Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B
 タイトル      Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
 雑誌        Clin Genet 80:50-8 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01518.x"">10.1111/j.1399-0004.2010.01518.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11841538"">11841538</a>
 著者        Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA
 タイトル      Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
 雑誌        J Invest Dermatol 118:232-8 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.0022-202x.2001.01664.x"">10.1046/j.0022-202x.2001.01664.x</a>"
H00894,FG 症候群,,,"FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome.",先天奇形,,"(FGS1) MED12 [HSA:9968] [KO:K15162]
 (FGS2) FLNA [HSA:2316] [KO:K04437]
 (FGS4) CASK [HSA:8573] [KO:K06103]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537923
 OMIM: 305450 300321 300422","PMID:17334363 (MED12)
 著者        Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ
 タイトル      A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
 雑誌        Nat Genet 39:451-3 (2007)
 DOI:10.1038/ng1992
 PMID:17632775 (FLNA)
 著者        Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ
 タイトル      Filamin A mutation is one cause of FG syndrome.
 雑誌        Am J Med Genet A 143A:1876-9 (2007)
 DOI:10.1002/ajmg.a.31751
 PMID:19200522 (CASK)
 著者        Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V
 タイトル      A missense mutation in CASK causes FG syndrome in an Italian family.
 雑誌        Am J Hum Genet 84:162-77 (2009)
 DOI:10.1016/j.ajhg.2008.12.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00894"">H00894</a>",FG 症候群,"FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome.",,"(FGS1) MED12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9968"">9968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15162"">K15162</a>]
 (FGS2) FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (FGS4) CASK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8573"">8573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06103"">K06103</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537923"">C537923</a>
 OMIM: <a href=""https://www.omim.org/entry/305450"">305450</a> <a href=""https://www.omim.org/entry/300321"">300321</a> <a href=""https://www.omim.org/entry/300422"">300422</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17334363"">17334363</a> (MED12)
 著者        Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ
 タイトル      A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
 雑誌        Nat Genet 39:451-3 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1992"">10.1038/ng1992</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17632775"">17632775</a> (FLNA)
 著者        Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ
 タイトル      Filamin A mutation is one cause of FG syndrome.
 雑誌        Am J Med Genet A 143A:1876-9 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31751"">10.1002/ajmg.a.31751</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19200522"">19200522</a> (CASK)
 著者        Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V
 タイトル      A missense mutation in CASK causes FG syndrome in an Italian family.
 雑誌        Am J Hum Genet 84:162-77 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.018"">10.1016/j.ajhg.2008.12.018</a>"
H00895,基底細胞母斑症候群,,,"Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.",皮膚と結合組織の疾患,,"PTCH1 [HSA:5727] [KO:K06225]
 PTCH2 [HSA:8643] [KO:K11101]
 SUFU [HSA:51684] [KO:K06229]",,,,,,"ICD-11: LD2D.4
 ICD-10: D36.9
 MeSH: D001478
 OMIM: 109400","PMID:21834049
 著者        Bree AF, Shah MR
 タイトル      Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).
 雑誌        Am J Med Genet A 155A:2091-7 (2011)
 DOI:10.1002/ajmg.a.34128
 PMID:19557015
 著者        Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y
 タイトル      Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
 雑誌        J Hum Genet 54:403-8 (2009)
 DOI:10.1038/jhg.2009.55
 PMID:18285427
 著者        Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S
 タイトル      A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
 雑誌        J Med Genet 45:303-8 (2008)
 DOI:10.1136/jmg.2007.055343
 PMID:19533801
 著者        Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garre ML, Clementi M, Scarra GB
 タイトル      Identification of a SUFU germline mutation in a family with Gorlin syndrome.
 雑誌        Am J Med Genet A 149A:1539-43 (2009)
 DOI:10.1002/ajmg.a.32944
 PMID:20875327
 著者        Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C
 タイトル      Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.
 雑誌        Dermatol Online J 16:6 (2010)
 PMID:22028568
 著者        Go JW, Kim SH, Yi SY, Cho HK
 タイトル      Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma.
 雑誌        Ann Dermatol 23 Suppl 1:S36-40 (2011)
 DOI:10.5021/ad.2011.23.S1.S36","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00895"">H00895</a>",基底細胞母斑症候群,"Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.",,"PTCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5727"">5727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06225"">K06225</a>]
 PTCH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8643"">8643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11101"">K11101</a>]
 SUFU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51684"">51684</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06229"">K06229</a>]",,,,,,"ICD-11: LD2D.4
 ICD-10: D36.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001478"">D001478</a>
 OMIM: <a href=""https://www.omim.org/entry/109400"">109400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21834049"">21834049</a>
 著者        Bree AF, Shah MR
 タイトル      Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).
 雑誌        Am J Med Genet A 155A:2091-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34128"">10.1002/ajmg.a.34128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19557015"">19557015</a>
 著者        Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y
 タイトル      Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
 雑誌        J Hum Genet 54:403-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/jhg.2009.55"">10.1038/jhg.2009.55</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18285427"">18285427</a>
 著者        Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S
 タイトル      A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
 雑誌        J Med Genet 45:303-8 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.055343"">10.1136/jmg.2007.055343</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19533801"">19533801</a>
 著者        Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garre ML, Clementi M, Scarra GB
 タイトル      Identification of a SUFU germline mutation in a family with Gorlin syndrome.
 雑誌        Am J Med Genet A 149A:1539-43 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32944"">10.1002/ajmg.a.32944</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20875327"">20875327</a>
 著者        Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C
 タイトル      Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.
 雑誌        Dermatol Online J 16:6 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028568"">22028568</a>
 著者        Go JW, Kim SH, Yi SY, Cho HK
 タイトル      Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma.
 雑誌        Ann Dermatol 23 Suppl 1:S36-40 (2011)
 DOI:<a href=""https://doi.org/10.5021/ad.2011.23.S1.S36"">10.5021/ad.2011.23.S1.S36</a>"
H00896,リンパ脈管筋腫症,,,"Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.",,,"TSC1 [HSA:7248] [KO:K07206]
 TSC2 [HSA:7249] [KO:K07207]",,,,シロリムス [DR:D00753],,"ICD-11: CB07
 ICD-10: I89.8
 OMIM: 606690","PMID:21880281
 著者        Taveira-Dasilva AM, Rabel A, Gochuico BR, Avila NA, Moss J
 タイトル      Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.
 雑誌        Fertil Steril 96:711-714.e1 (2011)
 DOI:10.1016/j.fertnstert.2011.06.038
 PMID:21760507 (description, gene, drug)
 著者        Taille C, Borie R, Crestani B
 タイトル      Current management of lymphangioleiomyomatosis.
 雑誌        Curr Opin Pulm Med 17:374-8 (2011)
 DOI:10.1097/MCP.0b013e328349ac8c
 PMID:21255897
 著者        Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J
 タイトル      Lymphangioleiomyomatosis.
 雑誌        Arch Bronconeumol 47:85-93 (2011)
 DOI:10.1016/j.arbres.2010.08.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00896"">H00896</a>",リンパ脈管筋腫症,"Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.",,"TSC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7248"">7248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07206"">K07206</a>]
 TSC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7249"">7249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07207"">K07207</a>]",,,,"シロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00753"">D00753</a>]",,"ICD-11: CB07
 ICD-10: I89.8
 OMIM: <a href=""https://www.omim.org/entry/606690"">606690</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21880281"">21880281</a>
 著者        Taveira-Dasilva AM, Rabel A, Gochuico BR, Avila NA, Moss J
 タイトル      Prevalence of uterine leiomyomas in lymphangioleiomyomatosis.
 雑誌        Fertil Steril 96:711-714.e1 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2011.06.038"">10.1016/j.fertnstert.2011.06.038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21760507"">21760507</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Taille C, Borie R, Crestani B
 タイトル      Current management of lymphangioleiomyomatosis.
 雑誌        Curr Opin Pulm Med 17:374-8 (2011)
 DOI:<a href=""https://doi.org/10.1097/MCP.0b013e328349ac8c"">10.1097/MCP.0b013e328349ac8c</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21255897"">21255897</a>
 著者        Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J
 タイトル      Lymphangioleiomyomatosis.
 雑誌        Arch Bronconeumol 47:85-93 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.arbres.2010.08.008"">10.1016/j.arbres.2010.08.008</a>"
H00897,橋小脳低形成,,,"Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.",先天奇形,,"(PCH1) VRK1 [HSA:7443] [KO:K08816]
 (PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
 (PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
 (PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
 (PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
 (PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
 (PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
 (PCH2B) TSEN2 [HSA:80746] [KO:K15322]
 (PCH2C) TSEN34 [HSA:79042] [KO:K15323]
 (PCH2D) SEPSECS [HSA:51091] [KO:K03341]
 (PCH2E) VPS53 [HSA:55275] [KO:K20299]
 (PCH2F) TSEN15 [HSA:116461] [KO:K15324]
 (PCH3) PCLO [HSA:27445] [KO:K16882]
 (PCH6) RARS2 [HSA:57038] [KO:K01887]
 (PCH7) TOE1 [HSA:114034] [KO:K13202]
 (PCH8) CHMP1A [HSA:5119] [KO:K12197]
 (PCH9) AMPD2 [HSA:271] [KO:K01490]
 (PCH10) CLP1 [HSA:10978] [KO:K14399]
 (PCH11) TBC1D23 [HSA:55773] [KO:K22555]
 (PCH12) COASY [HSA:80347] [KO:K02318]
 (PCH13) VPS51 [HSA:738] [KO:K20296]
 (PCH14) PPIL1 [HSA:51645] [KO:K12733]
 (PCH15) CDC40 [HSA:51362] [KO:K12816]
 (PCH16) MINPP1 [HSA:9562] [KO:K03103]",,,,,,"ICD-11: LD20.01
 ICD-10: Q04.3
 MeSH: C580383
 OMIM: 607596 614678 616081 618065 619303 619304 277470 225753 612389 612390 611523 608027 613811 615851 617026 614969 614961 615809 615803 617695 618266 618606 619301 619302 619527","PMID:21749694
 著者        Namavar Y, Barth PG, Poll-The BT, Baas F
 タイトル      Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
 雑誌        Orphanet J Rare Dis 6:50 (2011)
 DOI:10.1186/1750-1172-6-50
 PMID:23564332
 著者        Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM
 タイトル      EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
 雑誌        J Neurol 260:1866-70 (2013)
 DOI:10.1007/s00415-013-6896-0
 PMID:24989451
 著者        Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R
 タイトル      EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
 雑誌        Nat Commun 5:4287 (2014)
 DOI:10.1038/ncomms5287
 PMID:21368912
 著者        Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F
 タイトル      TSEN54 mutations cause pontocerebellar hypoplasia type 5.
 雑誌        Eur J Hum Genet 19:724-6 (2011)
 DOI:10.1038/ejhg.2011.8
 PMID:20920667
 著者        Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS
 タイトル      Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
 雑誌        Am J Hum Genet 87:538-44 (2010)
 DOI:10.1016/j.ajhg.2010.09.007
 PMID:24577744
 著者        Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS
 タイトル      VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
 雑誌        J Med Genet 51:303-8 (2014)
 DOI:10.1136/jmedgenet-2013-101823
 PMID:27392077
 著者        Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG
 タイトル      Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
 雑誌        Am J Hum Genet 99:228-35 (2016)
 DOI:10.1016/j.ajhg.2016.05.023
 PMID:25832664
 著者        Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
 タイトル      Loss of PCLO function underlies pontocerebellar hypoplasia type III.
 雑誌        Neurology 84:1745-50 (2015)
 DOI:10.1212/WNL.0000000000001523
 PMID:28092684
 著者        Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
 タイトル      Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
 雑誌        Nat Genet 49:457-464 (2017)
 DOI:10.1038/ng.3762
 PMID:23023333
 著者        Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA
 タイトル      CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
 雑誌        Nat Genet 44:1260-4 (2012)
 DOI:10.1038/ng.2425
 PMID:23911318
 著者        Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG
 タイトル      AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
 雑誌        Cell 154:505-17 (2013)
 DOI:10.1016/j.cell.2013.07.005
 PMID:24766809
 著者        Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR
 タイトル      Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
 雑誌        Cell 157:636-50 (2014)
 DOI:10.1016/j.cell.2014.02.058
 PMID:28823707
 著者        Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchke P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J
 タイトル      Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
 雑誌        Am J Hum Genet 101:428-440 (2017)
 DOI:10.1016/j.ajhg.2017.07.010
 PMID:30089828
 著者        van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F
 タイトル      Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
 雑誌        Eur J Hum Genet 26:1752-1758 (2018)
 DOI:10.1038/s41431-018-0233-0
 PMID:31207318
 著者        Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V
 タイトル      VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
 雑誌        Eur J Med Genet 62:103704 (2019)
 DOI:10.1016/j.ejmg.2019.103704
 PMID:33220177
 著者        Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG
 タイトル      Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
 雑誌        Neuron 109:241-256.e9 (2021)
 DOI:10.1016/j.neuron.2020.10.035
 PMID:33168985
 著者        Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA
 タイトル      Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
 雑誌        Eur J Hum Genet 29:411-421 (2021)
 DOI:10.1038/s41431-020-00749-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00897"">H00897</a>",橋小脳低形成,"Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.",,"(PCH1) VRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7443"">7443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08816"">K08816</a>]
 (PCH1B) EXOSC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51010"">51010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03681"">K03681</a>]
 (PCH1C) EXOSC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11340"">11340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12586"">K12586</a>]
 (PCH1D) EXOSC9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5393"">5393</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03678"">K03678</a>]
 (PCH1E) SLC25A46 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91137"">91137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03454"">K03454</a>]
 (PCH1F) EXOSC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51013"">51013</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07573"">K07573</a>]
 (PCH2A/4/5) TSEN54 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283989"">283989</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15326"">K15326</a>]
 (PCH2B) TSEN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80746"">80746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15322"">K15322</a>]
 (PCH2C) TSEN34 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79042"">79042</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15323"">K15323</a>]
 (PCH2D) SEPSECS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51091"">51091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03341"">K03341</a>]
 (PCH2E) VPS53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55275"">55275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20299"">K20299</a>]
 (PCH2F) TSEN15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116461"">116461</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15324"">K15324</a>]
 (PCH3) PCLO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27445"">27445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16882"">K16882</a>]
 (PCH6) RARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57038"">57038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01887"">K01887</a>]
 (PCH7) TOE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114034"">114034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13202"">K13202</a>]
 (PCH8) CHMP1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5119"">5119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12197"">K12197</a>]
 (PCH9) AMPD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:271"">271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01490"">K01490</a>]
 (PCH10) CLP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10978"">10978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14399"">K14399</a>]
 (PCH11) TBC1D23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55773"">55773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22555"">K22555</a>]
 (PCH12) COASY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80347"">80347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02318"">K02318</a>]
 (PCH13) VPS51 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:738"">738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20296"">K20296</a>]
 (PCH14) PPIL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51645"">51645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12733"">K12733</a>]
 (PCH15) CDC40 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51362"">51362</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12816"">K12816</a>]
 (PCH16) MINPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9562"">9562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03103"">K03103</a>]",,,,,,"ICD-11: LD20.01
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580383"">C580383</a>
 OMIM: <a href=""https://www.omim.org/entry/607596"">607596</a> <a href=""https://www.omim.org/entry/614678"">614678</a> <a href=""https://www.omim.org/entry/616081"">616081</a> <a href=""https://www.omim.org/entry/618065"">618065</a> <a href=""https://www.omim.org/entry/619303"">619303</a> <a href=""https://www.omim.org/entry/619304"">619304</a> <a href=""https://www.omim.org/entry/277470"">277470</a> <a href=""https://www.omim.org/entry/225753"">225753</a> <a href=""https://www.omim.org/entry/612389"">612389</a> <a href=""https://www.omim.org/entry/612390"">612390</a> <a href=""https://www.omim.org/entry/611523"">611523</a> <a href=""https://www.omim.org/entry/608027"">608027</a> <a href=""https://www.omim.org/entry/613811"">613811</a> <a href=""https://www.omim.org/entry/615851"">615851</a> <a href=""https://www.omim.org/entry/617026"">617026</a> <a href=""https://www.omim.org/entry/614969"">614969</a> <a href=""https://www.omim.org/entry/614961"">614961</a> <a href=""https://www.omim.org/entry/615809"">615809</a> <a href=""https://www.omim.org/entry/615803"">615803</a> <a href=""https://www.omim.org/entry/617695"">617695</a> <a href=""https://www.omim.org/entry/618266"">618266</a> <a href=""https://www.omim.org/entry/618606"">618606</a> <a href=""https://www.omim.org/entry/619301"">619301</a> <a href=""https://www.omim.org/entry/619302"">619302</a> <a href=""https://www.omim.org/entry/619527"">619527</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21749694"">21749694</a>
 著者        Namavar Y, Barth PG, Poll-The BT, Baas F
 タイトル      Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
 雑誌        Orphanet J Rare Dis 6:50 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-50"">10.1186/1750-1172-6-50</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23564332"">23564332</a>
 著者        Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM
 タイトル      EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
 雑誌        J Neurol 260:1866-70 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00415-013-6896-0"">10.1007/s00415-013-6896-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24989451"">24989451</a>
 著者        Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R
 タイトル      EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
 雑誌        Nat Commun 5:4287 (2014)
 DOI:<a href=""https://doi.org/10.1038/ncomms5287"">10.1038/ncomms5287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21368912"">21368912</a>
 著者        Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F
 タイトル      TSEN54 mutations cause pontocerebellar hypoplasia type 5.
 雑誌        Eur J Hum Genet 19:724-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2011.8"">10.1038/ejhg.2011.8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920667"">20920667</a>
 著者        Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS
 タイトル      Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
 雑誌        Am J Hum Genet 87:538-44 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.007"">10.1016/j.ajhg.2010.09.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24577744"">24577744</a>
 著者        Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS
 タイトル      VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
 雑誌        J Med Genet 51:303-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101823"">10.1136/jmedgenet-2013-101823</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27392077"">27392077</a>
 著者        Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG
 タイトル      Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
 雑誌        Am J Hum Genet 99:228-35 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.023"">10.1016/j.ajhg.2016.05.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25832664"">25832664</a>
 著者        Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
 タイトル      Loss of PCLO function underlies pontocerebellar hypoplasia type III.
 雑誌        Neurology 84:1745-50 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001523"">10.1212/WNL.0000000000001523</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28092684"">28092684</a>
 著者        Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
 タイトル      Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
 雑誌        Nat Genet 49:457-464 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3762"">10.1038/ng.3762</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023333"">23023333</a>
 著者        Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA
 タイトル      CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
 雑誌        Nat Genet 44:1260-4 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2425"">10.1038/ng.2425</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23911318"">23911318</a>
 著者        Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG
 タイトル      AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
 雑誌        Cell 154:505-17 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2013.07.005"">10.1016/j.cell.2013.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24766809"">24766809</a>
 著者        Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR
 タイトル      Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
 雑誌        Cell 157:636-50 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2014.02.058"">10.1016/j.cell.2014.02.058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28823707"">28823707</a>
 著者        Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchke P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J
 タイトル      Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
 雑誌        Am J Hum Genet 101:428-440 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.010"">10.1016/j.ajhg.2017.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30089828"">30089828</a>
 著者        van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F
 タイトル      Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
 雑誌        Eur J Hum Genet 26:1752-1758 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0233-0"">10.1038/s41431-018-0233-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31207318"">31207318</a>
 著者        Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V
 タイトル      VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
 雑誌        Eur J Med Genet 62:103704 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2019.103704"">10.1016/j.ejmg.2019.103704</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33220177"">33220177</a>
 著者        Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG
 タイトル      Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
 雑誌        Neuron 109:241-256.e9 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2020.10.035"">10.1016/j.neuron.2020.10.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33168985"">33168985</a>
 著者        Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA
 タイトル      Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
 雑誌        Eur J Hum Genet 29:411-421 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41431-020-00749-x"">10.1038/s41431-020-00749-x</a>"
H00898,"ミトコンドリアミオパチー及び鉄芽球性貧血
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus and mitochondria, which converts uridine into pseudouridine in several cytosolic and mitochondrial tRNA positions and increases the efficiency of protein synthesis in both compartments. Recentry, it has been reported that a mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, also causes MLASA. Myopathy with succinate dehydrogenase and aconitase deficiency has been found to be caused by mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU). ISCU is essential for the activity mitochondrial iron-sulphur proteins such as succinate dehydrogenase and aconitase.",先天性代謝異常症,,"(MLASA1) PUS1 [HSA:80324] [KO:K06173]
 (MLASA2) YARS2 [HSA:51067] [KO:K01866]
 (HML) ISCU [HSA:23479] [KO:K22068]",,,,,,"ICD-11: 3A72.0Y
 ICD-10: G71.3
 OMIM: 600462 613561 255125","PMID:17056637
 著者        Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M
 タイトル      Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
 雑誌        J Med Genet 44:173-80 (2007)
 DOI:10.1136/jmg.2006.045252
 PMID:20598274
 著者        Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M, Christodoulou J
 タイトル      Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
 雑誌        Am J Hum Genet 87:52-9 (2010)
 DOI:10.1016/j.ajhg.2010.06.001
 PMID:18304497
 著者        Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG
 タイトル      Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
 雑誌        Am J Hum Genet 82:652-60 (2008)
 DOI:10.1016/j.ajhg.2007.12.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00898"">H00898</a>","ミトコンドリアミオパチー及び鉄芽球性貧血
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus and mitochondria, which converts uridine into pseudouridine in several cytosolic and mitochondrial tRNA positions and increases the efficiency of protein synthesis in both compartments. Recentry, it has been reported that a mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, also causes MLASA. Myopathy with succinate dehydrogenase and aconitase deficiency has been found to be caused by mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU). ISCU is essential for the activity mitochondrial iron-sulphur proteins such as succinate dehydrogenase and aconitase.",,"(MLASA1) PUS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80324"">80324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06173"">K06173</a>]
 (MLASA2) YARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51067"">51067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01866"">K01866</a>]
 (HML) ISCU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23479"">23479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22068"">K22068</a>]",,,,,,"ICD-11: 3A72.0Y
 ICD-10: G71.3
 OMIM: <a href=""https://www.omim.org/entry/600462"">600462</a> <a href=""https://www.omim.org/entry/613561"">613561</a> <a href=""https://www.omim.org/entry/255125"">255125</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17056637"">17056637</a>
 著者        Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M
 タイトル      Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
 雑誌        J Med Genet 44:173-80 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.045252"">10.1136/jmg.2006.045252</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20598274"">20598274</a>
 著者        Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M, Christodoulou J
 タイトル      Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
 雑誌        Am J Hum Genet 87:52-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.06.001"">10.1016/j.ajhg.2010.06.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18304497"">18304497</a>
 著者        Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG
 タイトル      Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
 雑誌        Am J Hum Genet 82:652-60 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.12.012"">10.1016/j.ajhg.2007.12.012</a>"
H00899,"リジン尿性蛋白不耐症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family.",先天性代謝異常症,,SLC7A7 [HSA:9056] [KO:K13867],,,,"L-アルギニン塩酸塩 [DR:D01126]
 L-アルギニン・L-アルギニン塩酸塩 [DR:D08754]",,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: C562687
 OMIM: 222700","PMID:18200002 (description, gene, drug)
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:10.1038/sj.ki.5002790
 PMID:21308987
 著者        Sebastio G, Sperandeo MP, Andria G
 タイトル      Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
 雑誌        Am J Med Genet C Semin Med Genet 157:54-62 (2011)
 DOI:10.1002/ajmg.c.30287
 PMID:17764084
 著者        Sperandeo MP, Andria G, Sebastio G
 タイトル      Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
 雑誌        Hum Mutat 29:14-21 (2008)
 DOI:10.1002/humu.20589","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00899"">H00899</a>","リジン尿性蛋白不耐症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family.",,"SLC7A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9056"">9056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13867"">K13867</a>]",,,,"L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01126"">D01126</a>]
 L-アルギニン・L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08754"">D08754</a>]",,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562687"">C562687</a>
 OMIM: <a href=""https://www.omim.org/entry/222700"">222700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18200002"">18200002</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.ki.5002790"">10.1038/sj.ki.5002790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21308987"">21308987</a>
 著者        Sebastio G, Sperandeo MP, Andria G
 タイトル      Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
 雑誌        Am J Med Genet C Semin Med Genet 157:54-62 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30287"">10.1002/ajmg.c.30287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17764084"">17764084</a>
 著者        Sperandeo MP, Andria G, Sebastio G
 タイトル      Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
 雑誌        Hum Mutat 29:14-21 (2008)
 DOI:<a href=""https://doi.org/10.1002/humu.20589"">10.1002/humu.20589</a>"
H00900,Geleophysic dysplasia,,,"Geleophysic dysplasia ((GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.",先天奇形,,"(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430]
 (GPHYSD2) FBN1 [HSA:2200] [KO:K06825]
 (GPHYSD3) LTBP3 [HSA:4054] [KO:K08023]",,,,,,"ICD-11: LD24.8Y
 ICD-10: Q87.1
 MeSH: C535662
 OMIM: 231050 614185 617809","PMID:6507495
 著者        Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM
 タイトル      Geleophysic dysplasia.
 雑誌        Am J Med Genet 19:487-99 (1984)
 DOI:10.1002/ajmg.1320190310
 PMID:21415077 (ADAMTSL2)
 著者        Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Genevieve D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbane A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V
 タイトル      Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
 雑誌        J Med Genet 48:417-21 (2011)
 DOI:10.1136/jmg.2010.087544
 PMID:21683322 (FBN1)
 著者        Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
 タイトル      Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
 雑誌        Am J Hum Genet 89:7-14 (2011)
 DOI:10.1016/j.ajhg.2011.05.012
 PMID:27068007 (LTBP3)
 著者        McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
 タイトル      Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
 雑誌        J Med Genet 53:457-64 (2016)
 DOI:10.1136/jmedgenet-2015-103647","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00900"">H00900</a>",Geleophysic dysplasia,"Geleophysic dysplasia ((GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.",,"(GPHYSD1) ADAMTSL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9719"">9719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24430"">K24430</a>]
 (GPHYSD2) FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]
 (GPHYSD3) LTBP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4054"">4054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]",,,,,,"ICD-11: LD24.8Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535662"">C535662</a>
 OMIM: <a href=""https://www.omim.org/entry/231050"">231050</a> <a href=""https://www.omim.org/entry/614185"">614185</a> <a href=""https://www.omim.org/entry/617809"">617809</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6507495"">6507495</a>
 著者        Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM
 タイトル      Geleophysic dysplasia.
 雑誌        Am J Med Genet 19:487-99 (1984)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320190310"">10.1002/ajmg.1320190310</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21415077"">21415077</a> (ADAMTSL2)
 著者        Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Genevieve D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbane A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V
 タイトル      Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
 雑誌        J Med Genet 48:417-21 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2010.087544"">10.1136/jmg.2010.087544</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21683322"">21683322</a> (FBN1)
 著者        Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
 タイトル      Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
 雑誌        Am J Hum Genet 89:7-14 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.012"">10.1016/j.ajhg.2011.05.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27068007"">27068007</a> (LTBP3)
 著者        McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
 タイトル      Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
 雑誌        J Med Genet 53:457-64 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103647"">10.1136/jmedgenet-2015-103647</a>"
H00901,シスチン尿症,,,"Cystinuria is a inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic amino acids lysine, arginine, and ornithine, and most prominently, of cystine are constantly elevated. Plasma levels of these amino acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal recessive trait, whereas mutations in SLC7A9 can be seen as an autosomal dominant trait.",先天性代謝異常症,,"SLC3A1 [HSA:6519] [KO:K14210]
 SLC7A9 [HSA:11136] [KO:K13868]",,,,チオプロニン [DR:D01430],,"ICD-11: 5C60.2
 ICD-10: E72.0
 MeSH: D003555
 OMIM: 220100","PMID:18781961
 著者        Martens K, Jaeken J, Matthijs G, Creemers JW
 タイトル      Multi-system disorder syndromes associated with cystinuria type I.
 雑誌        Curr Mol Med 8:544-50 (2008)
 DOI:10.2174/156652408785747997
 PMID:21308987
 著者        Sebastio G, Sperandeo MP, Andria G
 タイトル      Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
 雑誌        Am J Med Genet C Semin Med Genet 157:54-62 (2011)
 DOI:10.1002/ajmg.c.30287
 PMID:18200002
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:10.1038/sj.ki.5002790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00901"">H00901</a>",シスチン尿症,"Cystinuria is a inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic amino acids lysine, arginine, and ornithine, and most prominently, of cystine are constantly elevated. Plasma levels of these amino acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal recessive trait, whereas mutations in SLC7A9 can be seen as an autosomal dominant trait.",,"SLC3A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6519"">6519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14210"">K14210</a>]
 SLC7A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11136"">11136</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13868"">K13868</a>]",,,,"チオプロニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01430"">D01430</a>]",,"ICD-11: 5C60.2
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003555"">D003555</a>
 OMIM: <a href=""https://www.omim.org/entry/220100"">220100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18781961"">18781961</a>
 著者        Martens K, Jaeken J, Matthijs G, Creemers JW
 タイトル      Multi-system disorder syndromes associated with cystinuria type I.
 雑誌        Curr Mol Med 8:544-50 (2008)
 DOI:<a href=""https://doi.org/10.2174/156652408785747997"">10.2174/156652408785747997</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21308987"">21308987</a>
 著者        Sebastio G, Sperandeo MP, Andria G
 タイトル      Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
 雑誌        Am J Med Genet C Semin Med Genet 157:54-62 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30287"">10.1002/ajmg.c.30287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18200002"">18200002</a>
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.ki.5002790"">10.1038/sj.ki.5002790</a>"
H00902,言語障害,,,Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized by impaired speech development and linguistic deficits.,精神及び行動の障害,,FOXP2 [HSA:93986] [KO:K09409],,,,,,"ICD-11: 6A01
 ICD-10: F80.9
 MeSH: D001072
 OMIM: 602081","PMID:19304338
 著者        Fisher SE, Scharff C
 タイトル      FOXP2 as a molecular window into speech and language.
 雑誌        Trends Genet 25:166-77 (2009)
 DOI:10.1016/j.tig.2009.03.002
 PMID:17196932
 著者        Mizutani A, Matsuzaki A, Momoi MY, Fujita E, Tanabe Y, Momoi T
 タイトル      Intracellular distribution of a speech/language disorder associated FOXP2 mutant.
 雑誌        Biochem Biophys Res Commun 353:869-74 (2007)
 DOI:10.1016/j.bbrc.2006.12.130","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00902"">H00902</a>",言語障害,Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized by impaired speech development and linguistic deficits.,,"FOXP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93986"">93986</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09409"">K09409</a>]",,,,,,"ICD-11: 6A01
 ICD-10: F80.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001072"">D001072</a>
 OMIM: <a href=""https://www.omim.org/entry/602081"">602081</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19304338"">19304338</a>
 著者        Fisher SE, Scharff C
 タイトル      FOXP2 as a molecular window into speech and language.
 雑誌        Trends Genet 25:166-77 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.tig.2009.03.002"">10.1016/j.tig.2009.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17196932"">17196932</a>
 著者        Mizutani A, Matsuzaki A, Momoi MY, Fujita E, Tanabe Y, Momoi T
 タイトル      Intracellular distribution of a speech/language disorder associated FOXP2 mutant.
 雑誌        Biochem Biophys Res Commun 353:869-74 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2006.12.130"">10.1016/j.bbrc.2006.12.130</a>"
H00903,先天内反足,,,"Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.",先天奇形,,PITX1 [HSA:5307] [KO:K09356],,,,,,"ICD-11: LB98.00
 ICD-10: Q66.0
 MeSH: D003025
 OMIM: 119800","PMID:21775501
 著者        Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA
 タイトル      Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
 雑誌        Hum Mol Genet 20:3943-52 (2011)
 DOI:10.1093/hmg/ddr313
 PMID:21817922
 著者        Dobbs MB, Gurnett CA
 タイトル      Genetics of clubfoot.
 雑誌        J Pediatr Orthop B 21:7-9 (2012)
 DOI:10.1097/BPB.0b013e328349927c
 PMID:12151881
 著者        Dietz F
 タイトル      The genetics of idiopathic clubfoot.
 雑誌        Clin Orthop Relat Res 39-48 (2002)
 DOI:10.1097/00003086-200208000-00007
 PMID:12587918
 著者        Miedzybrodzka Z
 タイトル      Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.
 雑誌        J Anat 202:37-42 (2003)
 DOI:10.1046/j.1469-7580.2003.00147.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00903"">H00903</a>",先天内反足,"Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.",,"PITX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5307"">5307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09356"">K09356</a>]",,,,,,"ICD-11: LB98.00
 ICD-10: Q66.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003025"">D003025</a>
 OMIM: <a href=""https://www.omim.org/entry/119800"">119800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21775501"">21775501</a>
 著者        Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA
 タイトル      Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
 雑誌        Hum Mol Genet 20:3943-52 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr313"">10.1093/hmg/ddr313</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21817922"">21817922</a>
 著者        Dobbs MB, Gurnett CA
 タイトル      Genetics of clubfoot.
 雑誌        J Pediatr Orthop B 21:7-9 (2012)
 DOI:<a href=""https://doi.org/10.1097/BPB.0b013e328349927c"">10.1097/BPB.0b013e328349927c</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12151881"">12151881</a>
 著者        Dietz F
 タイトル      The genetics of idiopathic clubfoot.
 雑誌        Clin Orthop Relat Res 39-48 (2002)
 DOI:<a href=""https://doi.org/10.1097/00003086-200208000-00007"">10.1097/00003086-200208000-00007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12587918"">12587918</a>
 著者        Miedzybrodzka Z
 タイトル      Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.
 雑誌        J Anat 202:37-42 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1469-7580.2003.00147.x"">10.1046/j.1469-7580.2003.00147.x</a>"
H00904,Urban-Rifkin-Davis 症候群,,,"Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the extracellular matrix and results in increased activity of transforming growth factor-beta.",,,LTBP4 [HSA:8425] [KO:K08023],,,,,,"ICD-11: LD28.2
 MeSH: C567716
 OMIM: 613177","PMID:19836010
 著者        Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC
 タイトル      Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
 雑誌        Am J Hum Genet 85:593-605 (2009)
 DOI:10.1016/j.ajhg.2009.09.013
 PMID:12208849
 著者        Sterner-Kock A, Thorey IS, Koli K, Wempe F, Otte J, Bangsow T, Kuhlmeier K, Kirchner T, Jin S, Keski-Oja J, von Melchner H
 タイトル      Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer.
 雑誌        Genes Dev 16:2264-73 (2002)
 DOI:10.1101/gad.229102
 PMID:21563328
 著者        Loeys B, De Paepe A, Urban Z
 タイトル      EFEMP2-Related Cutis Laxa
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00904"">H00904</a>",Urban-Rifkin-Davis 症候群,"Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the extracellular matrix and results in increased activity of transforming growth factor-beta.",,"LTBP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8425"">8425</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]",,,,,,"ICD-11: LD28.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567716"">C567716</a>
 OMIM: <a href=""https://www.omim.org/entry/613177"">613177</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19836010"">19836010</a>
 著者        Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC
 タイトル      Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
 雑誌        Am J Hum Genet 85:593-605 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.09.013"">10.1016/j.ajhg.2009.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12208849"">12208849</a>
 著者        Sterner-Kock A, Thorey IS, Koli K, Wempe F, Otte J, Bangsow T, Kuhlmeier K, Kirchner T, Jin S, Keski-Oja J, von Melchner H
 タイトル      Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer.
 雑誌        Genes Dev 16:2264-73 (2002)
 DOI:<a href=""https://doi.org/10.1101/gad.229102"">10.1101/gad.229102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21563328"">21563328</a>
 著者        Loeys B, De Paepe A, Urban Z
 タイトル      EFEMP2-Related Cutis Laxa
 雑誌        GeneReviews (1993)"
H00905,イミノグリシン尿症,,,"Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.",先天性代謝異常症,,"SLC36A2 [HSA:153201] [KO:K14209]
 SLC6A19 [HSA:340024] [KO:K05334]
 SLC6A20 [HSA:54716] [KO:K05048]",,,,,,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: C536285
 OMIM: 242600","PMID:18195088
 著者        Broer S
 タイトル      Amino acid transport across mammalian intestinal and renal epithelia.
 雑誌        Physiol Rev 88:249-86 (2008)
 DOI:10.1152/physrev.00018.2006
 PMID:18200002
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:10.1038/sj.ki.5002790
 PMID:20377526
 著者        Vanslambrouck JM, Broer A, Thavyogarajah T, Holst J, Bailey CG, Broer S, Rasko JE
 タイトル      Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria.
 雑誌        Biochem J 428:397-407 (2010)
 DOI:10.1042/BJ20091667","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00905"">H00905</a>",イミノグリシン尿症,"Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.",,"SLC36A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:153201"">153201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14209"">K14209</a>]
 SLC6A19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340024"">340024</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05334"">K05334</a>]
 SLC6A20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54716"">54716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05048"">K05048</a>]",,,,,,"ICD-11: 5C60.Y
 ICD-10: E72.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536285"">C536285</a>
 OMIM: <a href=""https://www.omim.org/entry/242600"">242600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18195088"">18195088</a>
 著者        Broer S
 タイトル      Amino acid transport across mammalian intestinal and renal epithelia.
 雑誌        Physiol Rev 88:249-86 (2008)
 DOI:<a href=""https://doi.org/10.1152/physrev.00018.2006"">10.1152/physrev.00018.2006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18200002"">18200002</a>
 著者        Camargo SM, Bockenhauer D, Kleta R
 タイトル      Aminoacidurias: Clinical and molecular aspects.
 雑誌        Kidney Int 73:918-25 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.ki.5002790"">10.1038/sj.ki.5002790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20377526"">20377526</a>
 著者        Vanslambrouck JM, Broer A, Thavyogarajah T, Holst J, Bailey CG, Broer S, Rasko JE
 タイトル      Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria.
 雑誌        Biochem J 428:397-407 (2010)
 DOI:<a href=""https://doi.org/10.1042/BJ20091667"">10.1042/BJ20091667</a>"
H00906,MACS 症候群,,,"Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported.",,,RIN2 [HSA:54453] [KO:K23687],,,,,,"ICD-11: LD28.2
 MeSH: C567770
 OMIM: 613075","PMID:19631308
 著者        Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E
 タイトル      RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
 雑誌        Am J Hum Genet 85:254-63 (2009)
 DOI:10.1016/j.ajhg.2009.07.001
 PMID:20424861
 著者        Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, Willaert A, Benmansour A, De Paepe A, Verloes A
 タイトル      The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
 雑誌        Hum Genet 128:79-88 (2010)
 DOI:10.1007/s00439-010-0829-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00906"">H00906</a>",MACS 症候群,"Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported.",,"RIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54453"">54453</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23687"">K23687</a>]",,,,,,"ICD-11: LD28.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567770"">C567770</a>
 OMIM: <a href=""https://www.omim.org/entry/613075"">613075</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19631308"">19631308</a>
 著者        Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E
 タイトル      RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
 雑誌        Am J Hum Genet 85:254-63 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.07.001"">10.1016/j.ajhg.2009.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20424861"">20424861</a>
 著者        Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, Willaert A, Benmansour A, De Paepe A, Verloes A
 タイトル      The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
 雑誌        Hum Genet 128:79-88 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0829-0"">10.1007/s00439-010-0829-0</a>"
H00907,"Kleefstra 症候群;
 9qサブテロメリア欠失症候群",,,"Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported.",先天奇形,,"(KLEFS1) EHMT1 [HSA:79813] [KO:K11420]
 (KLEFS2) KMT2C [HSA:58508] [KO:K09188]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C563043
 OMIM: 610253 617768","PMID:21910222
 著者        Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T
 タイトル      Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
 雑誌        Am J Med Genet A 155A:2409-15 (2011)
 DOI:10.1002/ajmg.a.34186
 PMID:20945554
 著者        Kleefstra T, Nillesen WM, Yntema HG
 タイトル      Kleefstra Syndrome
 雑誌        GeneReviews (1993)
 PMID:29069077
 著者        Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
 タイトル      Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
 雑誌        PLoS Genet 13:e1006864 (2017)
 DOI:10.1371/journal.pgen.1006864","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00907"">H00907</a>","Kleefstra 症候群;
 9qサブテロメリア欠失症候群","Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported.",,"(KLEFS1) EHMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79813"">79813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11420"">K11420</a>]
 (KLEFS2) KMT2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58508"">58508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09188"">K09188</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563043"">C563043</a>
 OMIM: <a href=""https://www.omim.org/entry/610253"">610253</a> <a href=""https://www.omim.org/entry/617768"">617768</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21910222"">21910222</a>
 著者        Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T
 タイトル      Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
 雑誌        Am J Med Genet A 155A:2409-15 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34186"">10.1002/ajmg.a.34186</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20945554"">20945554</a>
 著者        Kleefstra T, Nillesen WM, Yntema HG
 タイトル      Kleefstra Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29069077"">29069077</a>
 著者        Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
 タイトル      Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
 雑誌        PLoS Genet 13:e1006864 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006864"">10.1371/journal.pgen.1006864</a>"
H00908,モワットウィルソン症候群,,,"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene.",先天奇形,,ZEB2 [HSA:9839] [KO:K23560],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C536990
 OMIM: 235730","PMID:17958891
 著者        Garavelli L, Mainardi PC
 タイトル      Mowat-Wilson syndrome.
 雑誌        Orphanet J Rare Dis 2:42 (2007)
 DOI:10.1186/1750-1172-2-42
 PMID:21336163
 著者        Cui S, Erlichman J, Russo P, Haber BA, Matthews RP
 タイトル      Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development.
 雑誌        J Pediatr Gastroenterol Nutr 52:339-44 (2011)
 DOI:10.1097/MPG.0b013e3181ff2e5b","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00908"">H00908</a>",モワットウィルソン症候群,"Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene.",,"ZEB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9839"">9839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23560"">K23560</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536990"">C536990</a>
 OMIM: <a href=""https://www.omim.org/entry/235730"">235730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17958891"">17958891</a>
 著者        Garavelli L, Mainardi PC
 タイトル      Mowat-Wilson syndrome.
 雑誌        Orphanet J Rare Dis 2:42 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-42"">10.1186/1750-1172-2-42</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21336163"">21336163</a>
 著者        Cui S, Erlichman J, Russo P, Haber BA, Matthews RP
 タイトル      Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development.
 雑誌        J Pediatr Gastroenterol Nutr 52:339-44 (2011)
 DOI:<a href=""https://doi.org/10.1097/MPG.0b013e3181ff2e5b"">10.1097/MPG.0b013e3181ff2e5b</a>"
H00909,舌小体短縮症を伴う口蓋裂,,,"Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. It is resulted from failure of the palate to close and affected individuals will have problems with feeding, speech, hearing, and dentition.",先天奇形,,TBX22 [HSA:50945] [KO:K10186],,,,,,"ICD-11: LA42.Y
 ICD-10: Q35
 MeSH: C564442
 OMIM: 303400","PMID:19648124
 著者        Pauws E, Moore GE, Stanier P
 タイトル      A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
 雑誌        J Med Genet 46:555-61 (2009)
 DOI:10.1136/jmg.2009.066902
 PMID:11559848
 著者        Braybrook C, Doudney K, Marcano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P
 タイトル      The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
 雑誌        Nat Genet 29:179-83 (2001)
 DOI:10.1038/ng730
 PMID:21248356
 著者        Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P
 タイトル      Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
 雑誌        J Dent Res 90:450-5 (2011)
 DOI:10.1177/0022034510391052","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00909"">H00909</a>",舌小体短縮症を伴う口蓋裂,"Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. It is resulted from failure of the palate to close and affected individuals will have problems with feeding, speech, hearing, and dentition.",,"TBX22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50945"">50945</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10186"">K10186</a>]",,,,,,"ICD-11: LA42.Y
 ICD-10: Q35
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564442"">C564442</a>
 OMIM: <a href=""https://www.omim.org/entry/303400"">303400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19648124"">19648124</a>
 著者        Pauws E, Moore GE, Stanier P
 タイトル      A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
 雑誌        J Med Genet 46:555-61 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.066902"">10.1136/jmg.2009.066902</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11559848"">11559848</a>
 著者        Braybrook C, Doudney K, Marcano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P
 タイトル      The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
 雑誌        Nat Genet 29:179-83 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng730"">10.1038/ng730</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248356"">21248356</a>
 著者        Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P
 タイトル      Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
 雑誌        J Dent Res 90:450-5 (2011)
 DOI:<a href=""https://doi.org/10.1177/0022034510391052"">10.1177/0022034510391052</a>"
H00910,"ヒルシュスプルング病
 下位グループ    ヒルシュスプルング病、心臓欠陥および自律神経障害 (HCAD)",,,"Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells.",先天奇形,,"(HSCR1) RET [HSA:5979] [KO:K05126]
 (HSCR2) EDNRB [HSA:1910] [KO:K04198]
 (HSCR3) GDNF [HSA:2668] [KO:K05452]
 (HSCR4) EDN3 [HSA:1908] [KO:K05227]
 (HCAD) ECE1 [HSA:1889] [KO:K01415]",,,,,"Following syndromes are Hirschsprung-like phenotypes.
 Bardet-Biedl syndrome [DS:H00418]
 Shprintzen-Goldberg syndrome [DS:H00659]
 Waardenburg syndrome [DS:H00759]
 Mowat-Wilson syndrome [DS:H00908]","ICD-11: LB16.1
 ICD-10: Q43.1
 MeSH: D006627
 OMIM: 142623 600155 613711 613712 613870","PMID:20307847
 著者        Mundt E, Bates MD
 タイトル      Genetics of Hirschsprung disease and anorectal malformations.
 雑誌        Semin Pediatr Surg 19:107-17 (2010)
 DOI:10.1053/j.sempedsurg.2009.11.015
 PMID:14765367
 著者        Puri P, Shinkai T
 タイトル      Pathogenesis of Hirschsprung's disease and its variants: recent progress.
 雑誌        Semin Pediatr Surg 13:18-24 (2004)
 DOI:10.1053/j.sempedsurg.2003.09.004
 PMID:8114938 (RET)
 著者        Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al.
 タイトル      Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
 雑誌        Nature 367:377-8 (1994)
 DOI:10.1038/367377a0
 PMID:8001158 (EDNRB)
 著者        Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
 タイトル      A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
 雑誌        Cell 79:1257-66 (1994)
 DOI:10.1016/0092-8674(94)90016-7
 PMID:8896568 (GDNF)
 著者        Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A
 タイトル      Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
 雑誌        Nat Genet 14:341-4 (1996)
 DOI:10.1038/ng1196-341
 PMID:9359047 (EDN3)
 著者        Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S
 タイトル      Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
 雑誌        Eur J Hum Genet 5:247-51 (1997)
 PMID:9915973 (ECE1)
 著者        Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH
 タイトル      A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
 雑誌        Am J Hum Genet 64:304-8 (1999)
 DOI:10.1086/302184","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910"">H00910</a>","ヒルシュスプルング病
 下位グループ    ヒルシュスプルング病、心臓欠陥および自律神経障害 (HCAD)","Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells.",,"(HSCR1) RET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a>]
 (HSCR2) EDNRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1910"">1910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04198"">K04198</a>]
 (HSCR3) GDNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2668"">2668</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05452"">K05452</a>]
 (HSCR4) EDN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1908"">1908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05227"">K05227</a>]
 (HCAD) ECE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1889"">1889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01415"">K01415</a>]",,,,,"Following syndromes are Hirschsprung-like phenotypes.
 Bardet-Biedl syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00418"">H00418</a>]
 Shprintzen-Goldberg syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00659"">H00659</a>]
 Waardenburg syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00759"">H00759</a>]
 Mowat-Wilson syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00908"">H00908</a>]","ICD-11: LB16.1
 ICD-10: Q43.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006627"">D006627</a>
 OMIM: <a href=""https://www.omim.org/entry/142623"">142623</a> <a href=""https://www.omim.org/entry/600155"">600155</a> <a href=""https://www.omim.org/entry/613711"">613711</a> <a href=""https://www.omim.org/entry/613712"">613712</a> <a href=""https://www.omim.org/entry/613870"">613870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20307847"">20307847</a>
 著者        Mundt E, Bates MD
 タイトル      Genetics of Hirschsprung disease and anorectal malformations.
 雑誌        Semin Pediatr Surg 19:107-17 (2010)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2009.11.015"">10.1053/j.sempedsurg.2009.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14765367"">14765367</a>
 著者        Puri P, Shinkai T
 タイトル      Pathogenesis of Hirschsprung's disease and its variants: recent progress.
 雑誌        Semin Pediatr Surg 13:18-24 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2003.09.004"">10.1053/j.sempedsurg.2003.09.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8114938"">8114938</a> (RET)
 著者        Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al.
 タイトル      Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
 雑誌        Nature 367:377-8 (1994)
 DOI:<a href=""https://doi.org/10.1038/367377a0"">10.1038/367377a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8001158"">8001158</a> (EDNRB)
 著者        Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
 タイトル      A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
 雑誌        Cell 79:1257-66 (1994)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(94)90016-7"">10.1016/0092-8674(94)90016-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8896568"">8896568</a> (GDNF)
 著者        Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A
 タイトル      Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
 雑誌        Nat Genet 14:341-4 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1196-341"">10.1038/ng1196-341</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9359047"">9359047</a> (EDN3)
 著者        Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S
 タイトル      Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
 雑誌        Eur J Hum Genet 5:247-51 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9915973"">9915973</a> (ECE1)
 著者        Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH
 タイトル      A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
 雑誌        Am J Hum Genet 64:304-8 (1999)
 DOI:<a href=""https://doi.org/10.1086/302184"">10.1086/302184</a>"
H00911,Dicarboxylic aminoaciduria,,,"Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA.",先天性代謝疾患,,SLC1A1 [HSA:6505] [KO:K05612],,,,,,"ICD-11: 5C60.Y
 MeSH: C536171
 OMIM: 222730","PMID:21123949
 著者        Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, Auray-Blais C, Vandenberg RJ, Broer S, Rasko JE
 タイトル      Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.
 雑誌        J Clin Invest 121:446-53 (2011)
 DOI:10.1172/JCI44474
 PMID:18195088
 著者        Broer S
 タイトル      Amino acid transport across mammalian intestinal and renal epithelia.
 雑誌        Physiol Rev 88:249-86 (2008)
 DOI:10.1152/physrev.00018.2006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00911"">H00911</a>",Dicarboxylic aminoaciduria,"Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA.",,"SLC1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6505"">6505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05612"">K05612</a>]",,,,,,"ICD-11: 5C60.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536171"">C536171</a>
 OMIM: <a href=""https://www.omim.org/entry/222730"">222730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21123949"">21123949</a>
 著者        Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, Auray-Blais C, Vandenberg RJ, Broer S, Rasko JE
 タイトル      Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.
 雑誌        J Clin Invest 121:446-53 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI44474"">10.1172/JCI44474</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18195088"">18195088</a>
 著者        Broer S
 タイトル      Amino acid transport across mammalian intestinal and renal epithelia.
 雑誌        Physiol Rev 88:249-86 (2008)
 DOI:<a href=""https://doi.org/10.1152/physrev.00018.2006"">10.1152/physrev.00018.2006</a>"
H00912,TNF受容体関連周期性症候群,,,"The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile attacks and localized inflammation in the absence of autoantibodies. Recurrent fever, abdominal pain, myalgia, and arthralgia are the most common manifestations of TRAPS.",免疫系疾患,,TNFRSF1A [HSA:7132] [KO:K03158],,,,カナキヌマブ [DR:D09315],,"ICD-11: 4A60.2
 ICD-10: R50
 MeSH: C536657
 OMIM: 142680","PMID:12352631
 著者        Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL
 タイトル      The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
 雑誌        Medicine (Baltimore) 81:349-68 (2002)
 DOI:10.1097/00005792-200209000-00002
 PMID:16447098
 著者        Rezaei N
 タイトル      TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.
 雑誌        Clin Rheumatol 25:773-7 (2006)
 DOI:10.1007/s10067-005-0198-6
 PMID:18408954
 著者        Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, Silva CA
 タイトル      TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.
 雑誌        Eur J Pediatr 167:1421-5 (2008)
 DOI:10.1007/s00431-008-0685-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00912"">H00912</a>",TNF受容体関連周期性症候群,"The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile attacks and localized inflammation in the absence of autoantibodies. Recurrent fever, abdominal pain, myalgia, and arthralgia are the most common manifestations of TRAPS.",,"TNFRSF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7132"">7132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03158"">K03158</a>]",,,,"カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]",,"ICD-11: 4A60.2
 ICD-10: R50
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536657"">C536657</a>
 OMIM: <a href=""https://www.omim.org/entry/142680"">142680</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12352631"">12352631</a>
 著者        Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL
 タイトル      The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
 雑誌        Medicine (Baltimore) 81:349-68 (2002)
 DOI:<a href=""https://doi.org/10.1097/00005792-200209000-00002"">10.1097/00005792-200209000-00002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16447098"">16447098</a>
 著者        Rezaei N
 タイトル      TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.
 雑誌        Clin Rheumatol 25:773-7 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10067-005-0198-6"">10.1007/s10067-005-0198-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18408954"">18408954</a>
 著者        Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, Silva CA
 タイトル      TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.
 雑誌        Eur J Pediatr 167:1421-5 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00431-008-0685-2"">10.1007/s00431-008-0685-2</a>"
H00913,"Brain-lung-thyroid 症候群;
 Choreoathetosis, hypothyroidism, and neonatal respiratory distress",,,"Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embryogenesis.",内分泌代謝疾患,,NKX2-1 [HSA:7080] [KO:K09342],,,,,,"ICD-11: CB04.5
 ICD-10: E03.1
 MeSH: C567034
 OMIM: 610978","PMID:15289765
 著者        Doyle DA, Gonzalez I, Thomas B, Scavina M
 タイトル      Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
 雑誌        J Pediatr 145:190-3 (2004)
 DOI:10.1016/j.jpeds.2004.04.011
 PMID:12566717
 著者        Gruters A, Biebermann H, Krude H
 タイトル      Neonatal thyroid disorders.
 雑誌        Horm Res 59 Suppl 1:24-9 (2003)
 DOI:10.1159/000067841
 PMID:18788921
 著者        Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE
 タイトル      A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
 雑誌        Thyroid 18:1005-9 (2008)
 DOI:10.1089/thy.2008.0085","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00913"">H00913</a>","Brain-lung-thyroid 症候群;
 Choreoathetosis, hypothyroidism, and neonatal respiratory distress","Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embryogenesis.",,"NKX2-1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7080"">7080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09342"">K09342</a>]",,,,,,"ICD-11: CB04.5
 ICD-10: E03.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567034"">C567034</a>
 OMIM: <a href=""https://www.omim.org/entry/610978"">610978</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15289765"">15289765</a>
 著者        Doyle DA, Gonzalez I, Thomas B, Scavina M
 タイトル      Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
 雑誌        J Pediatr 145:190-3 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jpeds.2004.04.011"">10.1016/j.jpeds.2004.04.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12566717"">12566717</a>
 著者        Gruters A, Biebermann H, Krude H
 タイトル      Neonatal thyroid disorders.
 雑誌        Horm Res 59 Suppl 1:24-9 (2003)
 DOI:<a href=""https://doi.org/10.1159/000067841"">10.1159/000067841</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18788921"">18788921</a>
 著者        Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE
 タイトル      A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
 雑誌        Thyroid 18:1005-9 (2008)
 DOI:<a href=""https://doi.org/10.1089/thy.2008.0085"">10.1089/thy.2008.0085</a>"
H00914,ワルシャワ破壊症候群,,,"Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1, a XPD helicase family member. In Warsaw breakage syndrome, features of Fanconi anemia (chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation.",先天奇形,,DDX11 [HSA:1663] [KO:K11273],,,,,"Fanconi anemia and Roberts syndrome are described in H00238 and H00572, respectively.","ICD-11: LD2F.1Y
 OMIM: 613398","PMID:20137776
 著者        van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP
 タイトル      Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
 雑誌        Am J Hum Genet 86:262-6 (2010)
 DOI:10.1016/j.ajhg.2010.01.008
 PMID:22102414
 著者        Wu Y, Sommers JA, Khan I, de Winter JP, Brosh RM Jr
 タイトル      Biochemical characterization of warsaw breakage syndrome helicase.
 雑誌        J Biol Chem 287:1007-21 (2012)
 DOI:10.1074/jbc.M111.276022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00914"">H00914</a>",ワルシャワ破壊症候群,"Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1, a XPD helicase family member. In Warsaw breakage syndrome, features of Fanconi anemia (chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation.",,"DDX11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1663"">1663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11273"">K11273</a>]",,,,,"Fanconi anemia and Roberts syndrome are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00238"">H00238</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00572,"">H00572,</a> respectively.","ICD-11: LD2F.1Y
 OMIM: <a href=""https://www.omim.org/entry/613398"">613398</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137776"">20137776</a>
 著者        van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP
 タイトル      Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
 雑誌        Am J Hum Genet 86:262-6 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.008"">10.1016/j.ajhg.2010.01.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22102414"">22102414</a>
 著者        Wu Y, Sommers JA, Khan I, de Winter JP, Brosh RM Jr
 タイトル      Biochemical characterization of warsaw breakage syndrome helicase.
 雑誌        J Biol Chem 287:1007-21 (2012)
 DOI:<a href=""https://doi.org/10.1074/jbc.M111.276022"">10.1074/jbc.M111.276022</a>"
H00915,結節性硬化症,,,"Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with TSC are frequently diagnosed with comorbid neurological disorders, including epilepsy, intellectual disability, behavioral dysregulation, sleep disorders, and autism spectrum disorders (ASD). TSC most often results from spontaneous genetic mutations in one or two genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. These gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated, leading to uncontrolled cell growth and protein synthesis.",先天奇形,,"TSC1 [HSA:7248] [KO:K07206]
 TSC2 [HSA:7249] [KO:K07207]",,,,"エベロリムス [DR:D02714]
 シロリムス [DR:D00753]",,"ICD-11: LD2D.2
 ICD-10: Q85.1
 MeSH: D014402
 OMIM: 191100","PMID:21692602
 著者        Hallett L, Foster T, Liu Z, Blieden M, Valentim J
 タイトル      Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
 雑誌        Curr Med Res Opin 27:1571-83 (2011)
 DOI:10.1185/03007995.2011.586687
 PMID:21301339
 著者        Tsai P, Sahin M
 タイトル      Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.
 雑誌        Curr Opin Neurol 24:106-13 (2011)
 DOI:10.1097/WCO.0b013e32834451c4
 PMID:21182496
 著者        Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
 タイトル      Tuberous sclerosis complex: tumors and tumorigenesis.
 雑誌        Int J Dermatol 50:13-20 (2011)
 DOI:10.1111/j.1365-4632.2010.04727.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915"">H00915</a>",結節性硬化症,"Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with TSC are frequently diagnosed with comorbid neurological disorders, including epilepsy, intellectual disability, behavioral dysregulation, sleep disorders, and autism spectrum disorders (ASD). TSC most often results from spontaneous genetic mutations in one or two genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. These gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated, leading to uncontrolled cell growth and protein synthesis.",,"TSC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7248"">7248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07206"">K07206</a>]
 TSC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7249"">7249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07207"">K07207</a>]",,,,"エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]
 シロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00753"">D00753</a>]",,"ICD-11: LD2D.2
 ICD-10: Q85.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014402"">D014402</a>
 OMIM: <a href=""https://www.omim.org/entry/191100"">191100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21692602"">21692602</a>
 著者        Hallett L, Foster T, Liu Z, Blieden M, Valentim J
 タイトル      Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
 雑誌        Curr Med Res Opin 27:1571-83 (2011)
 DOI:<a href=""https://doi.org/10.1185/03007995.2011.586687"">10.1185/03007995.2011.586687</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21301339"">21301339</a>
 著者        Tsai P, Sahin M
 タイトル      Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex.
 雑誌        Curr Opin Neurol 24:106-13 (2011)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e32834451c4"">10.1097/WCO.0b013e32834451c4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21182496"">21182496</a>
 著者        Borkowska J, Schwartz RA, Kotulska K, Jozwiak S
 タイトル      Tuberous sclerosis complex: tumors and tumorigenesis.
 雑誌        Int J Dermatol 50:13-20 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2010.04727.x"">10.1111/j.1365-4632.2010.04727.x</a>"
H00916,先天性中枢性低換気症候群,,,"Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the ASCL1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway. Recently, It has been showed that PHOX2B is the major CCHS locus, whose mutation accounts for 60% of cases.",神経系疾患,,"(CCHS1) PHOX2B [HSA:8929] [KO:K09330]
 (CCHS2) MYOH1 [HSA:283446] [KO:K10356]
 (CCHS3) LBX1 [HSA:10660] [KO:K09353]
 ASCL1 [HSA:429] [KO:K09067]",,,,,,"ICD-11: 7A42.1
 ICD-10: G47.3
 MeSH: C536209
 OMIM: 209880 619482 619483","PMID:14566559
 著者        Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K
 タイトル      Molecular analysis of congenital central hypoventilation syndrome.
 雑誌        Hum Genet 114:22-6 (2003)
 DOI:10.1007/s00439-003-1036-z
 PMID:12640453 (CCHS1)
 著者        Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S
 タイトル      Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
 雑誌        Nat Genet 33:459-61 (2003)
 DOI:10.1038/ng1130
 PMID:28779001 (CCHS2)
 著者        Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S
 タイトル      Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
 雑誌        J Med Genet 54:754-761 (2017)
 DOI:10.1136/jmedgenet-2017-104765
 PMID:30487221 (CCHS3)
 著者        Hernandez-Miranda LR, Ibrahim DM, Ruffault PL, Larrosa M, Balueva K, Muller T, Weerd W, Stolte-Dijkstra I, Hostra RMW, Brunet JF, Fortin G, Mundlos S, Birchmeier C
 タイトル      Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 115:13021-13026 (2018)
 DOI:10.1073/pnas.1813520115
 PMID:14532329 (ASCL1)
 著者        de Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J
 タイトル      Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
 雑誌        Hum Mol Genet 12:3173-80 (2003)
 DOI:10.1093/hmg/ddg339","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916"">H00916</a>",先天性中枢性低換気症候群,"Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the ASCL1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway. Recently, It has been showed that PHOX2B is the major CCHS locus, whose mutation accounts for 60% of cases.",,"(CCHS1) PHOX2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8929"">8929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09330"">K09330</a>]
 (CCHS2) MYOH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283446"">283446</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10356"">K10356</a>]
 (CCHS3) LBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10660"">10660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09353"">K09353</a>]
 ASCL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:429"">429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09067"">K09067</a>]",,,,,,"ICD-11: 7A42.1
 ICD-10: G47.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536209"">C536209</a>
 OMIM: <a href=""https://www.omim.org/entry/209880"">209880</a> <a href=""https://www.omim.org/entry/619482"">619482</a> <a href=""https://www.omim.org/entry/619483"">619483</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14566559"">14566559</a>
 著者        Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K
 タイトル      Molecular analysis of congenital central hypoventilation syndrome.
 雑誌        Hum Genet 114:22-6 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00439-003-1036-z"">10.1007/s00439-003-1036-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12640453"">12640453</a> (CCHS1)
 著者        Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S
 タイトル      Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
 雑誌        Nat Genet 33:459-61 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1130"">10.1038/ng1130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28779001"">28779001</a> (CCHS2)
 著者        Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S
 タイトル      Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
 雑誌        J Med Genet 54:754-761 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104765"">10.1136/jmedgenet-2017-104765</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30487221"">30487221</a> (CCHS3)
 著者        Hernandez-Miranda LR, Ibrahim DM, Ruffault PL, Larrosa M, Balueva K, Muller T, Weerd W, Stolte-Dijkstra I, Hostra RMW, Brunet JF, Fortin G, Mundlos S, Birchmeier C
 タイトル      Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 115:13021-13026 (2018)
 DOI:<a href=""https://doi.org/10.1073/pnas.1813520115"">10.1073/pnas.1813520115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14532329"">14532329</a> (ASCL1)
 著者        de Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J
 タイトル      Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
 雑誌        Hum Mol Genet 12:3173-80 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg339"">10.1093/hmg/ddg339</a>"
H00917,"先天性赤血球形成異常性貧血;
 先天性赤血球生成不全性貧血;
 先天性赤血球異形成貧血",,,"Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid hematopoietic cell lineages are morphologically normal. Three types of the disease are known as type I, II and III, and there is also a huge group of congenital forms that cannot be included with any of the three canonical types. CDA type II is the most widely spread form. CDA type III is the rarest of the three classical types of CDA and both familial and sporadic cases have been reported.",,,"(CDAN1A) CDAN1 [HSA:146059] [KO:K19531]
 (CDAN1B) C15orf41 [HSA:84529] [KO:K24865]
 (CDAN2) SEC23B [HSA:10483] [KO:K14006]
 (CDAN4) KLF1 [HSA:10661] [KO:K09204]",,,,,"(CDAII) SEC23B most frequent mutations: the R14W, E109K, R497C and I318T","ICD-11: 3A73
 ICD-10: D64.4
 OMIM: 224120 224100 613673 615631","PMID:21378561
 著者        Iolascon A, Russo R, Delaunay J
 タイトル      Congenital dyserythropoietic anemias.
 雑誌        Curr Opin Hematol 18:146-51 (2011)
 DOI:10.1097/MOH.0b013e32834521b0
 PMID:21251457 (description, comment)
 著者        Iolascon A, Russo R, Esposito MR, Piscopo C, Asci R, De Falco L, Di Noce F
 タイトル      Congenital dyserythropoietic anaemias: new acquisitions.
 雑誌        Blood Transfus 9:278-80 (2011)
 DOI:10.2450/2010.0085-10
 PMID:20820969
 著者        Kamiya T, Manabe A
 タイトル      Congenital dyserythropoietic anemia.
 雑誌        Int J Hematol 92:432-8 (2010)
 DOI:10.1007/s12185-010-0667-9
 PMID:21055716
 著者        Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP
 タイトル      A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
 雑誌        Am J Hum Genet 87:721-7 (2010)
 DOI:10.1016/j.ajhg.2010.10.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00917"">H00917</a>","先天性赤血球形成異常性貧血;
 先天性赤血球生成不全性貧血;
 先天性赤血球異形成貧血","Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid hematopoietic cell lineages are morphologically normal. Three types of the disease are known as type I, II and III, and there is also a huge group of congenital forms that cannot be included with any of the three canonical types. CDA type II is the most widely spread form. CDA type III is the rarest of the three classical types of CDA and both familial and sporadic cases have been reported.",,"(CDAN1A) CDAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146059"">146059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19531"">K19531</a>]
 (CDAN1B) C15orf41 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84529"">84529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24865"">K24865</a>]
 (CDAN2) SEC23B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10483"">10483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14006"">K14006</a>]
 (CDAN4) KLF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10661"">10661</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09204"">K09204</a>]",,,,,"(CDAII) SEC23B most frequent mutations: the R14W, E109K, R497C and I318T","ICD-11: 3A73
 ICD-10: D64.4
 OMIM: <a href=""https://www.omim.org/entry/224120"">224120</a> <a href=""https://www.omim.org/entry/224100"">224100</a> <a href=""https://www.omim.org/entry/613673"">613673</a> <a href=""https://www.omim.org/entry/615631"">615631</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21378561"">21378561</a>
 著者        Iolascon A, Russo R, Delaunay J
 タイトル      Congenital dyserythropoietic anemias.
 雑誌        Curr Opin Hematol 18:146-51 (2011)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e32834521b0"">10.1097/MOH.0b013e32834521b0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21251457"">21251457</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Iolascon A, Russo R, Esposito MR, Piscopo C, Asci R, De Falco L, Di Noce F
 タイトル      Congenital dyserythropoietic anaemias: new acquisitions.
 雑誌        Blood Transfus 9:278-80 (2011)
 DOI:<a href=""https://doi.org/10.2450/2010.0085-10"">10.2450/2010.0085-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20820969"">20820969</a>
 著者        Kamiya T, Manabe A
 タイトル      Congenital dyserythropoietic anemia.
 雑誌        Int J Hematol 92:432-8 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12185-010-0667-9"">10.1007/s12185-010-0667-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21055716"">21055716</a>
 著者        Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP
 タイトル      A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
 雑誌        Am J Hum Genet 87:721-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.010"">10.1016/j.ajhg.2010.10.010</a>"
H00918,両大血管右室起始症,,,"Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.",循環器疾患,,"CFC1 [HSA:55997] [KO:K25454]
 GDF1 [HSA:2657] [KO:K05495]",,,,,See also H01525 22q11.2 deletion syndrome.,"ICD-11: LA85.2
 ICD-10: Q20.1
 MeSH: D004310
 OMIM: 217095","PMID:18456715
 著者        Obler D, Juraszek AL, Smoot LB, Natowicz MR
 タイトル      Double outlet right ventricle: aetiologies and associations.
 雑誌        J Med Genet 45:481-97 (2008)
 DOI:10.1136/jmg.2008.057984
 PMID:11799476
 著者        Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M
 タイトル      CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
 雑誌        Am J Hum Genet 70:776-80 (2002)
 DOI:10.1086/339079
 PMID:17924340
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:10.1086/522890
 PMID:15649947
 著者        Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P
 タイトル      Common arterial trunk associated with a homeodomain mutation of NKX2.6.
 雑誌        Hum Mol Genet 14:585-93 (2005)
 DOI:10.1093/hmg/ddi055
 PMID:14585638
 著者        Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R
 タイトル      Role of TBX1 in human del22q11.2 syndrome.
 雑誌        Lancet 362:1366-73 (2003)
 DOI:10.1016/S0140-6736(03)14632-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00918"">H00918</a>",両大血管右室起始症,"Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.",,"CFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55997"">55997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25454"">K25454</a>]
 GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a> 22q11.2 deletion syndrome.","ICD-11: LA85.2
 ICD-10: Q20.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004310"">D004310</a>
 OMIM: <a href=""https://www.omim.org/entry/217095"">217095</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18456715"">18456715</a>
 著者        Obler D, Juraszek AL, Smoot LB, Natowicz MR
 タイトル      Double outlet right ventricle: aetiologies and associations.
 雑誌        J Med Genet 45:481-97 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.057984"">10.1136/jmg.2008.057984</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11799476"">11799476</a>
 著者        Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M
 タイトル      CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
 雑誌        Am J Hum Genet 70:776-80 (2002)
 DOI:<a href=""https://doi.org/10.1086/339079"">10.1086/339079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924340"">17924340</a>
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:<a href=""https://doi.org/10.1086/522890"">10.1086/522890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15649947"">15649947</a>
 著者        Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P
 タイトル      Common arterial trunk associated with a homeodomain mutation of NKX2.6.
 雑誌        Hum Mol Genet 14:585-93 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi055"">10.1093/hmg/ddi055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14585638"">14585638</a>
 著者        Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R
 タイトル      Role of TBX1 in human del22q11.2 syndrome.
 雑誌        Lancet 362:1366-73 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14632-6"">10.1016/S0140-6736(03)14632-6</a>"
H00919,動脈蛇行症候群,,,"Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers of the arterial wall. Other features of this disease are characteristic face and several connective tissue manifestations. It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and elastin hydroxylases, has been proposed recently.",脈管疾患,,SLC2A10 [HSA:81031] [KO:K08147],,,,,,"ICD-11: LD28.Y
 ICD-10: Q27.8
 MeSH: C565942
 OMIM: 208050","PMID:16550171
 著者        Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A
 タイトル      Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
 雑誌        Nat Genet 38:452-7 (2006)
 DOI:10.1038/ng1764
 PMID:17163528
 著者        Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M
 タイトル      Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
 雑誌        Am J Med Genet A 143:216-8 (2007)
 DOI:10.1002/ajmg.a.31514
 PMID:20547159
 著者        Segade F
 タイトル      Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.
 雑誌        FEBS Lett 584:2990-4 (2010)
 DOI:10.1016/j.febslet.2010.06.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00919"">H00919</a>",動脈蛇行症候群,"Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers of the arterial wall. Other features of this disease are characteristic face and several connective tissue manifestations. It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and elastin hydroxylases, has been proposed recently.",,"SLC2A10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81031"">81031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08147"">K08147</a>]",,,,,,"ICD-11: LD28.Y
 ICD-10: Q27.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565942"">C565942</a>
 OMIM: <a href=""https://www.omim.org/entry/208050"">208050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16550171"">16550171</a>
 著者        Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A
 タイトル      Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
 雑誌        Nat Genet 38:452-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1764"">10.1038/ng1764</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17163528"">17163528</a>
 著者        Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M
 タイトル      Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
 雑誌        Am J Med Genet A 143:216-8 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31514"">10.1002/ajmg.a.31514</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20547159"">20547159</a>
 著者        Segade F
 タイトル      Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.
 雑誌        FEBS Lett 584:2990-4 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2010.06.011"">10.1016/j.febslet.2010.06.011</a>"
H00920,"Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis",,,"Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutatioins in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, leads to failure to absorb fat and deficiency of fat-soluble vitamins.",循環器系疾患; 消化器系疾患,,COX4I2 [HSA:84701] [KO:K02263],,,,,"Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea and malabsorption of lipid-soluble vitamin. In addition, Shwachman-Bodian-Diamond and Pearson syndromes are associated with hematologic dysfunction.","ICD-11: 5C53.2Y
 MeSH: C567195
 OMIM: 612714","PMID:19268275
 著者        Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O
 タイトル      Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
 雑誌        Am J Hum Genet 84:412-7 (2009)
 DOI:10.1016/j.ajhg.2009.02.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00920"">H00920</a>","Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis","Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutatioins in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, leads to failure to absorb fat and deficiency of fat-soluble vitamins.",,"COX4I2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84701"">84701</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02263"">K02263</a>]",,,,,"Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea and malabsorption of lipid-soluble vitamin. In addition, Shwachman-Bodian-Diamond and Pearson syndromes are associated with hematologic dysfunction.","ICD-11: 5C53.2Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567195"">C567195</a>
 OMIM: <a href=""https://www.omim.org/entry/612714"">612714</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19268275"">19268275</a>
 著者        Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O
 タイトル      Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
 雑誌        Am J Hum Genet 84:412-7 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.02.006"">10.1016/j.ajhg.2009.02.006</a>"
H00921,"Revesz 症候群;
 常染色体優性遺伝性角化異常症 5;
 骨髄不全を伴う滲出性網膜症
 上位グループ    先天性角化異常症 [DS:H00507]",,,"Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis.",先天奇形,,TINF2 [HSA:26277] [KO:K11112],,,,,,"ICD-11: 3A70.0
 ICD-10: Q82.8
 MeSH: C538371
 OMIM: 268130","PMID:17901676
 著者        Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS
 タイトル      Revesz syndrome.
 雑誌        Indian J Pediatr 74:862-3 (2007)
 DOI:10.1007/s12098-007-0155-2
 PMID:20301779
 著者        Savage SA
 タイトル      Dyskeratosis Congenita
 雑誌        GeneReviews (1993)
 PMID:18669893
 著者        Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I
 タイトル      TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
 雑誌        Blood 112:3594-600 (2008)
 DOI:10.1182/blood-2008-05-153445
 PMID:1404302
 著者        Revesz T, Fletcher S, al-Gazali LI, DeBuse P
 タイトル      Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
 雑誌        J Med Genet 29:673-5 (1992)
 DOI:10.1136/jmg.29.9.673","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00921"">H00921</a>","Revesz 症候群;
 常染色体優性遺伝性角化異常症 5;
 骨髄不全を伴う滲出性網膜症
 上位グループ    先天性角化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00507"">H00507</a>]","Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis.",,"TINF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26277"">26277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11112"">K11112</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538371"">C538371</a>
 OMIM: <a href=""https://www.omim.org/entry/268130"">268130</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17901676"">17901676</a>
 著者        Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS
 タイトル      Revesz syndrome.
 雑誌        Indian J Pediatr 74:862-3 (2007)
 DOI:<a href=""https://doi.org/10.1007/s12098-007-0155-2"">10.1007/s12098-007-0155-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301779"">20301779</a>
 著者        Savage SA
 タイトル      Dyskeratosis Congenita
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18669893"">18669893</a>
 著者        Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I
 タイトル      TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
 雑誌        Blood 112:3594-600 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-05-153445"">10.1182/blood-2008-05-153445</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1404302"">1404302</a>
 著者        Revesz T, Fletcher S, al-Gazali LI, DeBuse P
 タイトル      Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
 雑誌        J Med Genet 29:673-5 (1992)
 DOI:<a href=""https://doi.org/10.1136/jmg.29.9.673"">10.1136/jmg.29.9.673</a>"
H00922,Schinzel-Giedion 症候群,,,"Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.",先天奇形,,SETBP1 [HSA:26040] [KO:K23217],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.0
 MeSH: C536632
 OMIM: 269150","PMID:18398855
 著者        Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS
 タイトル      Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
 雑誌        Am J Med Genet A 146A:1299-306 (2008)
 DOI:10.1002/ajmg.a.32277
 PMID:20436468
 著者        Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA
 タイトル      De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
 雑誌        Nat Genet 42:483-5 (2010)
 DOI:10.1038/ng.581
 PMID:8160760
 著者        Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M
 タイトル      Three new cases of the Schinzel-Giedion syndrome and review of the literature.
 雑誌        Am J Med Genet 50:90-3 (1994)
 DOI:10.1002/ajmg.1320500120","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00922"">H00922</a>",Schinzel-Giedion 症候群,"Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.",,"SETBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26040"">26040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23217"">K23217</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536632"">C536632</a>
 OMIM: <a href=""https://www.omim.org/entry/269150"">269150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18398855"">18398855</a>
 著者        Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS
 タイトル      Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
 雑誌        Am J Med Genet A 146A:1299-306 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32277"">10.1002/ajmg.a.32277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20436468"">20436468</a>
 著者        Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA
 タイトル      De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
 雑誌        Nat Genet 42:483-5 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.581"">10.1038/ng.581</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8160760"">8160760</a>
 著者        Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M
 タイトル      Three new cases of the Schinzel-Giedion syndrome and review of the literature.
 雑誌        Am J Med Genet 50:90-3 (1994)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320500120"">10.1002/ajmg.1320500120</a>"
H00923,"グルタミン合成の異常
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid.",,,GLUL [HSA:2752] [KO:K01915],,,,,,"ICD-11: 5C50.Y
 ICD-10: E72.8
 MeSH: C536832
 OMIM: 610015","PMID:16763901
 著者        Haberle J, Gorg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Haussinger D
 タイトル      Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
 雑誌        J Inherit Metab Dis 29:352-8 (2006)
 DOI:10.1007/s10545-006-0256-5
 PMID:16528811
 著者        Rose C, Jalan R
 タイトル      Congenital glutamine deficiency with glutamine synthetase mutations.
 雑誌        N Engl J Med 354:1093-4; author reply 1093-4 (2006)
 DOI:10.1056/NEJMc053332","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00923"">H00923</a>","グルタミン合成の異常
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid.",,"GLUL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2752"">2752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01915"">K01915</a>]",,,,,,"ICD-11: 5C50.Y
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536832"">C536832</a>
 OMIM: <a href=""https://www.omim.org/entry/610015"">610015</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16763901"">16763901</a>
 著者        Haberle J, Gorg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Haussinger D
 タイトル      Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
 雑誌        J Inherit Metab Dis 29:352-8 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10545-006-0256-5"">10.1007/s10545-006-0256-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16528811"">16528811</a>
 著者        Rose C, Jalan R
 タイトル      Congenital glutamine deficiency with glutamine synthetase mutations.
 雑誌        N Engl J Med 354:1093-4; author reply 1093-4 (2006)
 DOI:<a href=""https://doi.org/10.1056/NEJMc053332"">10.1056/NEJMc053332</a>"
H00924,NHEJ1 症候群,,,"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease shows features common with the ones observed in LIG4 deficiency or Nijmegen breakage syndrome.",,,NHEJ1 [HSA:79840] [KO:K10980],,,,,LIG4 deficiency and Nijmegen breakage syndrome are described in H00094.,"ICD-11: 4A01.1Y
 MeSH: C566970
 OMIM: 611291","PMID:16439204
 著者        Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P
 タイトル      Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
 雑誌        Cell 124:287-99 (2006)
 DOI:10.1016/j.cell.2005.12.030
 PMID:20597108
 著者        Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nurnberg G, Nurnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R
 タイトル      Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
 雑誌        Hum Mutat 31:1059-68 (2010)
 DOI:10.1002/humu.21315
 PMID:19223975
 著者        Schwartz M, Oren YS, Bester AC, Rahat A, Sfez R, Yitzchaik S, de Villartay JP, Kerem B
 タイトル      Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations.
 雑誌        PLoS One 4:e4516 (2009)
 DOI:10.1371/journal.pone.0004516
 PMID:16439205
 著者        Ahnesorg P, Smith P, Jackson SP
 タイトル      XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
 雑誌        Cell 124:301-13 (2006)
 DOI:10.1016/j.cell.2005.12.031","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00924"">H00924</a>",NHEJ1 症候群,"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease shows features common with the ones observed in LIG4 deficiency or Nijmegen breakage syndrome.",,"NHEJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79840"">79840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10980"">K10980</a>]",,,,,"LIG4 deficiency and Nijmegen breakage syndrome are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00094."">H00094.</a>","ICD-11: 4A01.1Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566970"">C566970</a>
 OMIM: <a href=""https://www.omim.org/entry/611291"">611291</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16439204"">16439204</a>
 著者        Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P
 タイトル      Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
 雑誌        Cell 124:287-99 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2005.12.030"">10.1016/j.cell.2005.12.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20597108"">20597108</a>
 著者        Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nurnberg G, Nurnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R
 タイトル      Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
 雑誌        Hum Mutat 31:1059-68 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21315"">10.1002/humu.21315</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19223975"">19223975</a>
 著者        Schwartz M, Oren YS, Bester AC, Rahat A, Sfez R, Yitzchaik S, de Villartay JP, Kerem B
 タイトル      Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations.
 雑誌        PLoS One 4:e4516 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0004516"">10.1371/journal.pone.0004516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16439205"">16439205</a>
 著者        Ahnesorg P, Smith P, Jackson SP
 タイトル      XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
 雑誌        Cell 124:301-13 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2005.12.031"">10.1016/j.cell.2005.12.031</a>"
H00925,"MHBD 欠損症;
 HSD10 ミトコンドリア病",,,2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. MHBD is characterized by normal early development followed by progressive loss of mental and motor skills.,先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",HSD17B10 [HSA:3028] [KO:K08683],,,,,Syndromic X-linked mental retardation (H00658) is also caused by mutation in the HSD17B10 gene. See also H00658.,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C536080
 OMIM: 300438","PMID:16148061
 著者        Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A
 タイトル      2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
 雑誌        Pediatr Res 58:488-91 (2005)
 DOI:10.1203/01.pdr.0000176916.94328.cd","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00925"">H00925</a>","MHBD 欠損症;
 HSD10 ミトコンドリア病",2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. MHBD is characterized by normal early development followed by progressive loss of mental and motor skills.,"<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","HSD17B10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3028"">3028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08683"">K08683</a>]",,,,,"Syndromic X-linked mental retardation (H00658) is also caused by mutation in the HSD17B10 gene. See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658."">H00658.</a>","ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536080"">C536080</a>
 OMIM: <a href=""https://www.omim.org/entry/300438"">300438</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16148061"">16148061</a>
 著者        Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A
 タイトル      2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
 雑誌        Pediatr Res 58:488-91 (2005)
 DOI:<a href=""https://doi.org/10.1203/01.pdr.0000176916.94328.cd"">10.1203/01.pdr.0000176916.94328.cd</a>"
H00926,"Growth retardation, developmental delay, coarse facies, and early death",,,"This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause in these patients.",先天奇形,,FTO [HSA:79068] [KO:K19469],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C567856
 OMIM: 612938","PMID:19559399
 著者        Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L
 タイトル      Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
 雑誌        Am J Hum Genet 85:106-11 (2009)
 DOI:10.1016/j.ajhg.2009.06.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00926"">H00926</a>","Growth retardation, developmental delay, coarse facies, and early death","This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause in these patients.",,"FTO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79068"">79068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19469"">K19469</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567856"">C567856</a>
 OMIM: <a href=""https://www.omim.org/entry/612938"">612938</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19559399"">19559399</a>
 著者        Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L
 タイトル      Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
 雑誌        Am J Hum Genet 85:106-11 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.06.002"">10.1016/j.ajhg.2009.06.002</a>"
H00927,カイロミクロン停滞病,,,"Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport.",先天性代謝異常症,,SAR1B [HSA:51128] [KO:K07953],,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: C535460
 OMIM: 246700","PMID:22104167
 著者        Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP
 タイトル      Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
 雑誌        Orphanet J Rare Dis 6:78 (2011)
 DOI:10.1186/1750-1172-6-78","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00927"">H00927</a>",カイロミクロン停滞病,"Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport.",,"SAR1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51128"">51128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07953"">K07953</a>]",,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535460"">C535460</a>
 OMIM: <a href=""https://www.omim.org/entry/246700"">246700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22104167"">22104167</a>
 著者        Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP
 タイトル      Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
 雑誌        Orphanet J Rare Dis 6:78 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-78"">10.1186/1750-1172-6-78</a>"
H00928,前脛骨表皮水泡症と難聴を伴う腎症,,,"Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis.",泌尿器系疾患,,CD151 [HSA:977] [KO:K06537],,,,,,"MeSH: C563798
 OMIM: 609057","PMID:15265795
 著者        Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ
 タイトル      CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
 雑誌        Blood 104:2217-23 (2004)
 DOI:10.1182/blood-2004-04-1512
 PMID:17015618
 著者        Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A
 タイトル      Kidney failure in mice lacking the tetraspanin CD151.
 雑誌        J Cell Biol 175:33-9 (2006)
 DOI:10.1083/jcb.200603073","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00928"">H00928</a>",前脛骨表皮水泡症と難聴を伴う腎症,"Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis.",,"CD151 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:977"">977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06537"">K06537</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563798"">C563798</a>
 OMIM: <a href=""https://www.omim.org/entry/609057"">609057</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15265795"">15265795</a>
 著者        Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ
 タイトル      CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
 雑誌        Blood 104:2217-23 (2004)
 DOI:<a href=""https://doi.org/10.1182/blood-2004-04-1512"">10.1182/blood-2004-04-1512</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17015618"">17015618</a>
 著者        Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A
 タイトル      Kidney failure in mice lacking the tetraspanin CD151.
 雑誌        J Cell Biol 175:33-9 (2006)
 DOI:<a href=""https://doi.org/10.1083/jcb.200603073"">10.1083/jcb.200603073</a>"
H00929,先天性垂直距骨,,,"Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.",先天奇形,,HOXD10 [HSA:3236] [KO:K09295],,,,,,"ICD-11: LB98.4
 ICD-10: Q66.8
 MeSH: C536345
 OMIM: 192950","PMID:20645034
 著者        Merrill LJ, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB
 タイトル      Skeletal muscle abnormalities and genetic factors related to vertical talus.
 雑誌        Clin Orthop Relat Res 469:1167-74 (2011)
 DOI:10.1007/s11999-010-1475-5
 PMID:15368082
 著者        Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR
 タイトル      Congenital vertical talus in four generations of the same family.
 雑誌        Skeletal Radiol 33:649-54 (2004)
 DOI:10.1007/s00256-004-0851-1
 PMID:15146389
 著者        Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR
 タイトル      A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 75:92-6 (2004)
 DOI:10.1086/422015
 PMID:16450407
 著者        Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM
 タイトル      HOXD10 M319K mutation in a family with isolated congenital vertical talus.
 雑誌        J Orthop Res 24:448-53 (2006)
 DOI:10.1002/jor.20052","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00929"">H00929</a>",先天性垂直距骨,"Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.",,"HOXD10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3236"">3236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09295"">K09295</a>]",,,,,,"ICD-11: LB98.4
 ICD-10: Q66.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536345"">C536345</a>
 OMIM: <a href=""https://www.omim.org/entry/192950"">192950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20645034"">20645034</a>
 著者        Merrill LJ, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB
 タイトル      Skeletal muscle abnormalities and genetic factors related to vertical talus.
 雑誌        Clin Orthop Relat Res 469:1167-74 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11999-010-1475-5"">10.1007/s11999-010-1475-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15368082"">15368082</a>
 著者        Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR
 タイトル      Congenital vertical talus in four generations of the same family.
 雑誌        Skeletal Radiol 33:649-54 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00256-004-0851-1"">10.1007/s00256-004-0851-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15146389"">15146389</a>
 著者        Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR
 タイトル      A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
 雑誌        Am J Hum Genet 75:92-6 (2004)
 DOI:<a href=""https://doi.org/10.1086/422015"">10.1086/422015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16450407"">16450407</a>
 著者        Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM
 タイトル      HOXD10 M319K mutation in a family with isolated congenital vertical talus.
 雑誌        J Orthop Res 24:448-53 (2006)
 DOI:<a href=""https://doi.org/10.1002/jor.20052"">10.1002/jor.20052</a>"
H00930,"低アルファリポ蛋白血症
 下位グループ    レシチンコレステロールアシルトランスフェラーゼ欠損症 [DS:H00158]
 タンジール病 [DS:H00159]",,,Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene.,先天性代謝異常症,,"ABCA1 [HSA:19] [KO:K05641]
 APOA1 [HSA:335] [KO:K08757]",,,,,Tangier disease [DS:H00159] is also caused by mutations of ABCA1.,"ICD-11: 5C81.0
 ICD-10: E78.6
 MeSH: D052456
 OMIM: 604091 618463","PMID:15841208 (ABCA1)
 著者        Timmins JM, Lee JY, Boudyguina E, Kluckman KD, Brunham LR, Mulya A, Gebre AK, Coutinho JM, Colvin PL, Smith TL, Hayden MR, Maeda N, Parks JS
 タイトル      Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.
 雑誌        J Clin Invest 115:1333-42 (2005)
 DOI:10.1172/JCI23915
 PMID:10998475 (ABCA1)
 著者        Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr
 タイトル      Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.
 雑誌        Atherosclerosis 152:457-68 (2000)
 DOI:10.1016/S0021-9150(99)00498-0
 PMID:17991432 (APOA1)
 著者        Esperon P, Raggio V, Stoll M, Vital M, Alallon W
 タイトル      A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease.
 雑誌        Clin Chim Acta 388:222-4 (2008)
 DOI:10.1016/j.cca.2007.10.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00930"">H00930</a>","低アルファリポ蛋白血症
 下位グループ    レシチンコレステロールアシルトランスフェラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00158"">H00158</a>]
 タンジール病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00159"">H00159</a>]",Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene.,,"ABCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:19"">19</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05641"">K05641</a>]
 APOA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:335"">335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08757"">K08757</a>]",,,,,"Tangier disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00159"">H00159</a>] is also caused by mutations of ABCA1.","ICD-11: 5C81.0
 ICD-10: E78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052456"">D052456</a>
 OMIM: <a href=""https://www.omim.org/entry/604091"">604091</a> <a href=""https://www.omim.org/entry/618463"">618463</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15841208"">15841208</a> (ABCA1)
 著者        Timmins JM, Lee JY, Boudyguina E, Kluckman KD, Brunham LR, Mulya A, Gebre AK, Coutinho JM, Colvin PL, Smith TL, Hayden MR, Maeda N, Parks JS
 タイトル      Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.
 雑誌        J Clin Invest 115:1333-42 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI23915"">10.1172/JCI23915</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10998475"">10998475</a> (ABCA1)
 著者        Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr
 タイトル      Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.
 雑誌        Atherosclerosis 152:457-68 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0021-9150(99)00498-0"">10.1016/S0021-9150(99)00498-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17991432"">17991432</a> (APOA1)
 著者        Esperon P, Raggio V, Stoll M, Vital M, Alallon W
 タイトル      A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease.
 雑誌        Clin Chim Acta 388:222-4 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2007.10.015"">10.1016/j.cca.2007.10.015</a>"
H00931,Growth hormone insensitivity with immunodeficiency,,,"Growth hormone insensitivity with immunodeficiency is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression.",,,STAT5B [HSA:6777] [KO:K11224],,,,,Laron syndrome is described in H00254.,"ICD-11: 5A61.0
 ICD-10: D82.8 E34.3
 MeSH: C537871
 OMIM: 245590 618985","PMID:17030597
 著者        Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A
 タイトル      Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
 雑誌        Pediatrics 118:e1584-92 (2006)
 DOI:10.1542/peds.2005-2882
 PMID:17287404
 著者        Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA
 タイトル      Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
 雑誌        Eur J Endocrinol 156:155-65 (2007)
 DOI:10.1530/eje.1.02327
 PMID:29844444
 著者        Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfaffle R, Dattani MT, Dauber A, Hwa V
 タイトル      Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
 雑誌        Nat Commun 9:2105 (2018)
 DOI:10.1038/s41467-018-04521-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00931"">H00931</a>",Growth hormone insensitivity with immunodeficiency,"Growth hormone insensitivity with immunodeficiency is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression.",,"STAT5B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6777"">6777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11224"">K11224</a>]",,,,,"Laron syndrome is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00254."">H00254.</a>","ICD-11: 5A61.0
 ICD-10: D82.8 E34.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537871"">C537871</a>
 OMIM: <a href=""https://www.omim.org/entry/245590"">245590</a> <a href=""https://www.omim.org/entry/618985"">618985</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17030597"">17030597</a>
 著者        Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A
 タイトル      Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
 雑誌        Pediatrics 118:e1584-92 (2006)
 DOI:<a href=""https://doi.org/10.1542/peds.2005-2882"">10.1542/peds.2005-2882</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17287404"">17287404</a>
 著者        Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA
 タイトル      Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
 雑誌        Eur J Endocrinol 156:155-65 (2007)
 DOI:<a href=""https://doi.org/10.1530/eje.1.02327"">10.1530/eje.1.02327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29844444"">29844444</a>
 著者        Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfaffle R, Dattani MT, Dauber A, Hwa V
 タイトル      Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
 雑誌        Nat Commun 9:2105 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41467-018-04521-0"">10.1038/s41467-018-04521-0</a>"
H00932,石灰沈着性膵炎,,,"Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis unique to developing countries in tropical regions. Patients present with recurrent abdominal pain, nutritional deficiencies, and insulin-requiring diabetes resulting from chronic pancreatitis before age 30. Several environmental and genetic factors are implicated in TCP.",,,"SPINK1 [HSA:6690] [KO:K23417]
 CTRC (non-European population) [HSA:11330] [KO:K01311]
 CTSB [HSA:1508] [KO:K01363]",,"Protein malnutrition
 Ingestion of cassava roots (cyanogenic glycosides)",,,,"ICD-11: DC32.5
 MeSH: C564276
 OMIM: 608189","PMID:18604651 (description, gene, env_factor)
 著者        Witt H, Bhatia E
 タイトル      Genetic aspects of tropical calcific pancreatitis.
 雑誌        Rev Endocr Metab Disord 9:213-26 (2008)
 DOI:10.1007/s11154-008-9088-y
 PMID:12360463 (description, gene, env_factor)
 著者        Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, Witt H
 タイトル      Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations.
 雑誌        Gastroenterology 123:1020-5 (2002)
 DOI:10.1053/gast.2002.36028
 PMID:19077465
 著者        Sundaresan S, Chacko A, Dutta AK, Bhatia E, Witt H, Te Morsche RH, Jansen JB, Drenth JP
 タイトル      Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis.
 雑誌        Pancreatology 9:145-9 (2009)
 DOI:10.1159/000178885
 PMID:21323990
 著者        Reddy DN, Prasad SS
 タイトル      Genetic basis of chronic pancreatitis in Asia Pacific region.
 雑誌        J Gastroenterol Hepatol 26 Suppl 2:2-5 (2011)
 DOI:10.1111/j.1440-1746.2010.06598.x
 PMID:18059268
 著者        Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvari B, Landt O, Schulz HU, Gress TM, Pfutzer R, Lohr M, Kovacs P, Bluher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, Buning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bodeker H, Keim V, Mossner J, Teich N, Sahin-Toth M
 タイトル      Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
 雑誌        Nat Genet 40:78-82 (2008)
 DOI:10.1038/ng.2007.44
 PMID:16492714
 著者        Mahurkar S, Idris MM, Reddy DN, Bhaskar S, Rao GV, Thomas V, Singh L, Chandak GR
 タイトル      Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
 雑誌        Gut 55:1270-5 (2006)
 DOI:10.1136/gut.2005.087403","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00932"">H00932</a>",石灰沈着性膵炎,"Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis unique to developing countries in tropical regions. Patients present with recurrent abdominal pain, nutritional deficiencies, and insulin-requiring diabetes resulting from chronic pancreatitis before age 30. Several environmental and genetic factors are implicated in TCP.",,"SPINK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6690"">6690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23417"">K23417</a>]
 CTRC (non-European population) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11330"">11330</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01311"">K01311</a>]
 CTSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1508"">1508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01363"">K01363</a>]",,"Protein malnutrition
 Ingestion of cassava roots (cyanogenic glycosides)",,,,"ICD-11: DC32.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564276"">C564276</a>
 OMIM: <a href=""https://www.omim.org/entry/608189"">608189</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18604651"">18604651</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Witt H, Bhatia E
 タイトル      Genetic aspects of tropical calcific pancreatitis.
 雑誌        Rev Endocr Metab Disord 9:213-26 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11154-008-9088-y"">10.1007/s11154-008-9088-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12360463"">12360463</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, Witt H
 タイトル      Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations.
 雑誌        Gastroenterology 123:1020-5 (2002)
 DOI:<a href=""https://doi.org/10.1053/gast.2002.36028"">10.1053/gast.2002.36028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19077465"">19077465</a>
 著者        Sundaresan S, Chacko A, Dutta AK, Bhatia E, Witt H, Te Morsche RH, Jansen JB, Drenth JP
 タイトル      Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis.
 雑誌        Pancreatology 9:145-9 (2009)
 DOI:<a href=""https://doi.org/10.1159/000178885"">10.1159/000178885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21323990"">21323990</a>
 著者        Reddy DN, Prasad SS
 タイトル      Genetic basis of chronic pancreatitis in Asia Pacific region.
 雑誌        J Gastroenterol Hepatol 26 Suppl 2:2-5 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1746.2010.06598.x"">10.1111/j.1440-1746.2010.06598.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18059268"">18059268</a>
 著者        Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvari B, Landt O, Schulz HU, Gress TM, Pfutzer R, Lohr M, Kovacs P, Bluher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, Buning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bodeker H, Keim V, Mossner J, Teich N, Sahin-Toth M
 タイトル      Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
 雑誌        Nat Genet 40:78-82 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.44"">10.1038/ng.2007.44</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16492714"">16492714</a>
 著者        Mahurkar S, Idris MM, Reddy DN, Bhaskar S, Rao GV, Thomas V, Singh L, Chandak GR
 タイトル      Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.
 雑誌        Gut 55:1270-5 (2006)
 DOI:<a href=""https://doi.org/10.1136/gut.2005.087403"">10.1136/gut.2005.087403</a>"
H00933,遺伝性膵炎,,,"Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis.",膵疾患,,"PRSS1 [HSA:5644] [KO:K01312]
 SPINK1 [HSA:6690] [KO:K23417]
 CFTR [HSA:1080] [KO:K05031]
 PRSS2 [HSA:5645] [KO:K01312]
 CTRC [HSA:11330] [KO:K01311]",,,,,,"ICD-11: DC32.2
 ICD-10: K86.1
 MeSH: D010195
 OMIM: 167800","PMID:21907651
 著者        Rebours V, Levy P, Ruszniewski P
 タイトル      An overview of hereditary pancreatitis.
 雑誌        Dig Liver Dis 44:8-15 (2012)
 DOI:10.1016/j.dld.2011.08.003
 PMID:17204147
 著者        Rosendahl J, Bodeker H, Mossner J, Teich N
 タイトル      Hereditary chronic pancreatitis.
 雑誌        Orphanet J Rare Dis 2:1 (2007)
 DOI:10.1186/1750-1172-2-1
 PMID:17238030
 著者        Naruse S, Fujiki K, Ishiguro H
 タイトル      Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
 雑誌        J Gastroenterol 42 Suppl 17:60-5 (2007)
 DOI:10.1007/s00535-006-1934-7
 PMID:15800694
 著者        Grigorescu M, Grigorescu MD
 タイトル      Genetic factors in pancreatitis.
 雑誌        Rom J Gastroenterol 14:53-61 (2005)
 PMID:8841182 (PRSS1)
 著者        Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD
 タイトル      Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
 雑誌        Nat Genet 14:141-5 (1996)
 DOI:10.1038/ng1096-141
 PMID:10835640 (SPINK1)
 著者        Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M
 タイトル      Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
 雑誌        Nat Genet 25:213-6 (2000)
 DOI:10.1038/76088
 PMID:9725921 (CFTR)
 著者        Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J
 タイトル      Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
 雑誌        N Engl J Med 339:645-52 (1998)
 DOI:10.1056/NEJM199809033391001
 PMID:16699518 (PRSS2)
 著者        Witt H, Sahin-Toth M, Landt O, Chen JM, Kahne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Marechal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Bock W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfutzer R, Lohr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Guldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Ferec C
 タイトル      A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
 雑誌        Nat Genet 38:668-73 (2006)
 DOI:10.1038/ng1797
 PMID:18172691 (CTRC)
 著者        Masson E, Chen JM, Scotet V, Le Marechal C, Ferec C
 タイトル      Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
 雑誌        Hum Genet 123:83-91 (2008)
 DOI:10.1007/s00439-007-0459-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00933"">H00933</a>",遺伝性膵炎,"Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis.",,"PRSS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5644"">5644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01312"">K01312</a>]
 SPINK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6690"">6690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23417"">K23417</a>]
 CFTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1080"">1080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05031"">K05031</a>]
 PRSS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5645"">5645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01312"">K01312</a>]
 CTRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11330"">11330</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01311"">K01311</a>]",,,,,,"ICD-11: DC32.2
 ICD-10: K86.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010195"">D010195</a>
 OMIM: <a href=""https://www.omim.org/entry/167800"">167800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21907651"">21907651</a>
 著者        Rebours V, Levy P, Ruszniewski P
 タイトル      An overview of hereditary pancreatitis.
 雑誌        Dig Liver Dis 44:8-15 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.dld.2011.08.003"">10.1016/j.dld.2011.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17204147"">17204147</a>
 著者        Rosendahl J, Bodeker H, Mossner J, Teich N
 タイトル      Hereditary chronic pancreatitis.
 雑誌        Orphanet J Rare Dis 2:1 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-1"">10.1186/1750-1172-2-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17238030"">17238030</a>
 著者        Naruse S, Fujiki K, Ishiguro H
 タイトル      Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
 雑誌        J Gastroenterol 42 Suppl 17:60-5 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00535-006-1934-7"">10.1007/s00535-006-1934-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15800694"">15800694</a>
 著者        Grigorescu M, Grigorescu MD
 タイトル      Genetic factors in pancreatitis.
 雑誌        Rom J Gastroenterol 14:53-61 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8841182"">8841182</a> (PRSS1)
 著者        Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD
 タイトル      Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
 雑誌        Nat Genet 14:141-5 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1096-141"">10.1038/ng1096-141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10835640"">10835640</a> (SPINK1)
 著者        Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M
 タイトル      Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
 雑誌        Nat Genet 25:213-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/76088"">10.1038/76088</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9725921"">9725921</a> (CFTR)
 著者        Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J
 タイトル      Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
 雑誌        N Engl J Med 339:645-52 (1998)
 DOI:<a href=""https://doi.org/10.1056/NEJM199809033391001"">10.1056/NEJM199809033391001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16699518"">16699518</a> (PRSS2)
 著者        Witt H, Sahin-Toth M, Landt O, Chen JM, Kahne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Marechal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Bock W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfutzer R, Lohr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Guldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Ferec C
 タイトル      A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
 雑誌        Nat Genet 38:668-73 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1797"">10.1038/ng1797</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18172691"">18172691</a> (CTRC)
 著者        Masson E, Chen JM, Scotet V, Le Marechal C, Ferec C
 タイトル      Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
 雑誌        Hum Genet 123:83-91 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00439-007-0459-3"">10.1007/s00439-007-0459-3</a>"
H00934,"尾方重複異常;
 尾部重複奇形",,,"Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.",先天奇形,,AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C564315
 OMIM: 607864","PMID:10955588
 著者        Rattan KN, Budhiraja S, Pandit SK, Solanki RS, Sen R, Sen J
 タイトル      Caudal duplication--a case report.
 雑誌        Pediatr Surg Int 16:445-6 (2000)
 DOI:10.1007/s003839900313
 PMID:9502040
 著者        La Torre R, Fusaro P, Anceschi MM, Montanino-Oliva M, Modesto S, Cosmi EV
 タイトル      Unusual case of caudal duplication (dipygus).
 雑誌        J Clin Ultrasound 26:163-5 (1998)
 DOI:10.1002/(SICI)1097-0096(199803/04)26:3<163::AID-JCU10>3.0.CO;2-C
 PMID:12376942
 著者        Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ
 タイトル      Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
 雑誌        Am J Med Genet 112:390-3 (2002)
 DOI:10.1002/ajmg.10594
 PMID:16773576
 著者        Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S
 タイトル      Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.
 雑誌        Am J Hum Genet 79:155-62 (2006)
 DOI:10.1086/505031","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00934"">H00934</a>","尾方重複異常;
 尾部重複奇形","Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.",,"AXIN1 (methylation at the promoter region) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8312"">8312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02157"">K02157</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564315"">C564315</a>
 OMIM: <a href=""https://www.omim.org/entry/607864"">607864</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10955588"">10955588</a>
 著者        Rattan KN, Budhiraja S, Pandit SK, Solanki RS, Sen R, Sen J
 タイトル      Caudal duplication--a case report.
 雑誌        Pediatr Surg Int 16:445-6 (2000)
 DOI:<a href=""https://doi.org/10.1007/s003839900313"">10.1007/s003839900313</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9502040"">9502040</a>
 著者        La Torre R, Fusaro P, Anceschi MM, Montanino-Oliva M, Modesto S, Cosmi EV
 タイトル      Unusual case of caudal duplication (dipygus).
 雑誌        J Clin Ultrasound 26:163-5 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1097-0096(199803/04)26:"">10.1002/(SICI)1097-0096(199803/04)26:</a><a href=""https://doi.org/3<163:"">3<163:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-JCU10>3.0.CO;2-C"">AID-JCU10>3.0.CO;2-C</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12376942"">12376942</a>
 著者        Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ
 タイトル      Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
 雑誌        Am J Med Genet 112:390-3 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10594"">10.1002/ajmg.10594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16773576"">16773576</a>
 著者        Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S
 タイトル      Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.
 雑誌        Am J Hum Genet 79:155-62 (2006)
 DOI:<a href=""https://doi.org/10.1086/505031"">10.1086/505031</a>"
H00935,"寒冷誘発性発汗症候群
 下位グループ    Crisponi 症候群",,,Cold-induced sweating syndrome (CISS) is inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized by profuse sweating induced by cool surroundings.,先天奇形,,"(CISS1) CRLF1 [HSA:9244] [KO:K24481]
 (CISS2) CLCF1 [HSA:23529] [KO:K05421]
 (CISS3) KLHL7 [HSA:55975] [KO:K10445]",,,,,,"ICD-11: 8C21.Y LD26.41
 ICD-10: G90.8
 MeSH: C536214
 OMIM: 272430 610313 617055","PMID:17436251
 著者        Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V
 タイトル      Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
 雑誌        Am J Hum Genet 80:966-70 (2007)
 DOI:10.1086/513608
 PMID:21370513
 著者        Hahn AF, Boman H
 タイトル      Cold-Induced Sweating Syndrome including Crisponi Syndrome
 雑誌        GeneReviews (1993)
 PMID:27392078
 著者        Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Hohne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kilic E, Zampino G, Crisponi G, Crisponi L, Rutsch F
 タイトル      Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
 雑誌        Am J Hum Genet 99:236-45 (2016)
 DOI:10.1016/j.ajhg.2016.05.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00935"">H00935</a>","寒冷誘発性発汗症候群
 下位グループ    Crisponi 症候群",Cold-induced sweating syndrome (CISS) is inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized by profuse sweating induced by cool surroundings.,,"(CISS1) CRLF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9244"">9244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24481"">K24481</a>]
 (CISS2) CLCF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23529"">23529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05421"">K05421</a>]
 (CISS3) KLHL7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55975"">55975</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10445"">K10445</a>]",,,,,,"ICD-11: 8C21.Y LD26.41
 ICD-10: G90.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536214"">C536214</a>
 OMIM: <a href=""https://www.omim.org/entry/272430"">272430</a> <a href=""https://www.omim.org/entry/610313"">610313</a> <a href=""https://www.omim.org/entry/617055"">617055</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17436251"">17436251</a>
 著者        Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V
 タイトル      Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
 雑誌        Am J Hum Genet 80:966-70 (2007)
 DOI:<a href=""https://doi.org/10.1086/513608"">10.1086/513608</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21370513"">21370513</a>
 著者        Hahn AF, Boman H
 タイトル      Cold-Induced Sweating Syndrome including Crisponi Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27392078"">27392078</a>
 著者        Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Hohne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kilic E, Zampino G, Crisponi G, Crisponi L, Rutsch F
 タイトル      Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
 雑誌        Am J Hum Genet 99:236-45 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.026"">10.1016/j.ajhg.2016.05.026</a>"
H00936,Goldberg-Shprintzen 巨大結腸症候群,,,"Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development.",先天奇形,,KBP [HSA:26128] [KO:K23845],,,,,"For Hirschsprung disease, see H00910.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537279
 OMIM: 609460","PMID:15883926
 著者        Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM
 タイトル      Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
 雑誌        Am J Hum Genet 77:120-6 (2005)
 DOI:10.1086/431244
 PMID:20621975
 著者        Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM
 タイトル      KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
 雑誌        Hum Mol Genet 19:3642-51 (2010)
 DOI:10.1093/hmg/ddq280
 PMID:18192286
 著者        Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS
 タイトル      KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
 雑誌        Development 135:599-608 (2008)
 DOI:10.1242/dev.012377
 PMID:9571278
 著者        Fryer AE
 タイトル      Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
 雑誌        Clin Dysmorphol 7:97-101 (1998)
 DOI:10.1097/00019605-199804000-00003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00936"">H00936</a>",Goldberg-Shprintzen 巨大結腸症候群,"Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development.",,"KBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26128"">26128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23845"">K23845</a>]",,,,,"For Hirschsprung disease, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910."">H00910.</a>","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537279"">C537279</a>
 OMIM: <a href=""https://www.omim.org/entry/609460"">609460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15883926"">15883926</a>
 著者        Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM
 タイトル      Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
 雑誌        Am J Hum Genet 77:120-6 (2005)
 DOI:<a href=""https://doi.org/10.1086/431244"">10.1086/431244</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20621975"">20621975</a>
 著者        Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM
 タイトル      KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
 雑誌        Hum Mol Genet 19:3642-51 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq280"">10.1093/hmg/ddq280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18192286"">18192286</a>
 著者        Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS
 タイトル      KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
 雑誌        Development 135:599-608 (2008)
 DOI:<a href=""https://doi.org/10.1242/dev.012377"">10.1242/dev.012377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9571278"">9571278</a>
 著者        Fryer AE
 タイトル      Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
 雑誌        Clin Dysmorphol 7:97-101 (1998)
 DOI:<a href=""https://doi.org/10.1097/00019605-199804000-00003"">10.1097/00019605-199804000-00003</a>"
H00937,"思春期早発症
 下位グループ    中枢性思春期早発症 [DS:H02018]
 家族性男性思春期早発症 [DS:H02019]",,,"Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females.",内分泌代謝疾患,nt06323  KISS1-GnRH-LH/FSH-E2 signaling,"(CEPREPU) KISS1R [HSA:84634] [KO:K08374]
 (FMPP) LHCGR [HSA:3973] [KO:K04248]",,,,,,"ICD-11: 5A92 5A60.3
 ICD-10: E22.8 E30.1
 MeSH: D011629 C562787 C536961
 OMIM: 176400 176410","PMID:21664234
 著者        Teles MG, Silveira LF, Tusset C, Latronico AC
 タイトル      New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.
 雑誌        Mol Cell Endocrinol 346:84-90 (2011)
 DOI:10.1016/j.mce.2011.05.019
 PMID:20374734
 著者        Segaloff DL
 タイトル      Diseases associated with mutations of the human lutropin receptor.
 雑誌        Prog Mol Biol Transl Sci 89:97-114 (2009)
 DOI:10.1016/S1877-1173(09)89004-2
 PMID:18478155 (drug)
 著者        Bertelloni S, Mul D
 タイトル      Treatment of central precocious puberty by GnRH analogs: long-term outcome in men.
 雑誌        Asian J Androl 10:525-34 (2008)
 DOI:10.1111/j.1745-7262.2008.00409.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00937"">H00937</a>","思春期早発症
 下位グループ    中枢性思春期早発症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02018"">H02018</a>]
 家族性男性思春期早発症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02019"">H02019</a>]","Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females.","<a href=""https://www.kegg.jp/network/nt06323"">nt06323</a>  KISS1-GnRH-LH/FSH-E2 signaling","(CEPREPU) KISS1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84634"">84634</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08374"">K08374</a>]
 (FMPP) LHCGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3973"">3973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04248"">K04248</a>]",,,,,,"ICD-11: 5A92 5A60.3
 ICD-10: E22.8 E30.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011629"">D011629</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562787"">C562787</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536961"">C536961</a>
 OMIM: <a href=""https://www.omim.org/entry/176400"">176400</a> <a href=""https://www.omim.org/entry/176410"">176410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21664234"">21664234</a>
 著者        Teles MG, Silveira LF, Tusset C, Latronico AC
 タイトル      New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.
 雑誌        Mol Cell Endocrinol 346:84-90 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2011.05.019"">10.1016/j.mce.2011.05.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20374734"">20374734</a>
 著者        Segaloff DL
 タイトル      Diseases associated with mutations of the human lutropin receptor.
 雑誌        Prog Mol Biol Transl Sci 89:97-114 (2009)
 DOI:<a href=""https://doi.org/10.1016/S1877-1173(09)89004-2"">10.1016/S1877-1173(09)89004-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18478155"">18478155</a> (drug)
 著者        Bertelloni S, Mul D
 タイトル      Treatment of central precocious puberty by GnRH analogs: long-term outcome in men.
 雑誌        Asian J Androl 10:525-34 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1745-7262.2008.00409.x"">10.1111/j.1745-7262.2008.00409.x</a>"
H00938,"先天性第XI因子欠乏症;
 ローゼンタール病",,,"Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency.",血液疾患,,F11 [HSA:2160] [KO:K01323],,,,,,"ICD-11: 3B13
 ICD-10: D68.1
 OMIM: 612416","PMID:19630775
 著者        Seligsohn U
 タイトル      Factor XI deficiency in humans.
 雑誌        J Thromb Haemost 7 Suppl 1:84-7 (2009)
 DOI:10.1111/j.1538-7836.2009.03395.x
 PMID:19598070
 著者        Duga S, Salomon O
 タイトル      Factor XI Deficiency.
 雑誌        Semin Thromb Hemost 35:416-25 (2009)
 DOI:10.1055/s-0029-1225764
 PMID:19609524
 著者        Franchini M, Manzato F, Salvagno GL, Montagnana M, Lippi G
 タイトル      The use of desmopressin in congenital factor XI deficiency: a systematic review.
 雑誌        Ann Hematol 88:931-5 (2009)
 DOI:10.1007/s00277-009-0792-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00938"">H00938</a>","先天性第XI因子欠乏症;
 ローゼンタール病","Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency.",,"F11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2160"">2160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01323"">K01323</a>]",,,,,,"ICD-11: 3B13
 ICD-10: D68.1
 OMIM: <a href=""https://www.omim.org/entry/612416"">612416</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19630775"">19630775</a>
 著者        Seligsohn U
 タイトル      Factor XI deficiency in humans.
 雑誌        J Thromb Haemost 7 Suppl 1:84-7 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2009.03395.x"">10.1111/j.1538-7836.2009.03395.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19598070"">19598070</a>
 著者        Duga S, Salomon O
 タイトル      Factor XI Deficiency.
 雑誌        Semin Thromb Hemost 35:416-25 (2009)
 DOI:<a href=""https://doi.org/10.1055/s-0029-1225764"">10.1055/s-0029-1225764</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19609524"">19609524</a>
 著者        Franchini M, Manzato F, Salvagno GL, Montagnana M, Lippi G
 タイトル      The use of desmopressin in congenital factor XI deficiency: a systematic review.
 雑誌        Ann Hematol 88:931-5 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00277-009-0792-9"">10.1007/s00277-009-0792-9</a>"
H00939,Darsun 症候群,,,"G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone to undergo apoptosis and leads to defective organ development.",免疫系疾患; 先天奇形,,G6PC3 [HSA:92579] [KO:K01084],,,,,,"ICD-11: 4B00.00
 ICD-10: D70
 MeSH: C567260
 OMIM: 612541","PMID:19118303
 著者        Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C
 タイトル      A syndrome with congenital neutropenia and mutations in G6PC3.
 雑誌        N Engl J Med 360:32-43 (2009)
 DOI:10.1056/NEJMoa0805051
 PMID:21206270
 著者        Boztug K, Klein C
 タイトル      Genetic etiologies of severe congenital neutropenia.
 雑誌        Curr Opin Pediatr 23:21-6 (2011)
 DOI:10.1097/MOP.0b013e32834262f8
 PMID:19440858
 著者        Klein C, Welte K
 タイトル      Genetic insights into congenital neutropenia.
 雑誌        Clin Rev Allergy Immunol 38:68-74 (2010)
 DOI:10.1007/s12016-009-8130-5
 PMID:19782549
 著者        Boztug K, Klein C
 タイトル      Novel genetic etiologies of severe congenital neutropenia.
 雑誌        Curr Opin Immunol 21:472-80 (2009)
 DOI:10.1016/j.coi.2009.09.003
 PMID:21219176
 著者        Klein C
 タイトル      Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
 雑誌        Annu Rev Immunol 29:399-413 (2011)
 DOI:10.1146/annurev-immunol-030409-101259
 PMID:20799326
 著者        Banka S, Newman WG, Ozgul RK, Dursun A
 タイトル      Mutations in the G6PC3 gene cause Dursun syndrome.
 雑誌        Am J Med Genet A 152A:2609-11 (2010)
 DOI:10.1002/ajmg.a.33615","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00939"">H00939</a>",Darsun 症候群,"G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone to undergo apoptosis and leads to defective organ development.",,"G6PC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92579"">92579</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01084"">K01084</a>]",,,,,,"ICD-11: 4B00.00
 ICD-10: D70
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567260"">C567260</a>
 OMIM: <a href=""https://www.omim.org/entry/612541"">612541</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19118303"">19118303</a>
 著者        Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C
 タイトル      A syndrome with congenital neutropenia and mutations in G6PC3.
 雑誌        N Engl J Med 360:32-43 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0805051"">10.1056/NEJMoa0805051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21206270"">21206270</a>
 著者        Boztug K, Klein C
 タイトル      Genetic etiologies of severe congenital neutropenia.
 雑誌        Curr Opin Pediatr 23:21-6 (2011)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e32834262f8"">10.1097/MOP.0b013e32834262f8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19440858"">19440858</a>
 著者        Klein C, Welte K
 タイトル      Genetic insights into congenital neutropenia.
 雑誌        Clin Rev Allergy Immunol 38:68-74 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12016-009-8130-5"">10.1007/s12016-009-8130-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19782549"">19782549</a>
 著者        Boztug K, Klein C
 タイトル      Novel genetic etiologies of severe congenital neutropenia.
 雑誌        Curr Opin Immunol 21:472-80 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.coi.2009.09.003"">10.1016/j.coi.2009.09.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21219176"">21219176</a>
 著者        Klein C
 タイトル      Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
 雑誌        Annu Rev Immunol 29:399-413 (2011)
 DOI:<a href=""https://doi.org/10.1146/annurev-immunol-030409-101259"">10.1146/annurev-immunol-030409-101259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20799326"">20799326</a>
 著者        Banka S, Newman WG, Ozgul RK, Dursun A
 タイトル      Mutations in the G6PC3 gene cause Dursun syndrome.
 雑誌        Am J Med Genet A 152A:2609-11 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33615"">10.1002/ajmg.a.33615</a>"
H00940,Cohen 症候群,,,"Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene.",先天奇形,,COH1 [HSA:157680] [KO:K19526],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: C536438
 OMIM: 216550","PMID:11477603
 著者        Kivitie-Kallio S, Norio R
 タイトル      Cohen syndrome: essential features, natural history, and heterogeneity.
 雑誌        Am J Med Genet 102:125-35 (2001)
 DOI:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0
 PMID:21865173
 著者        Seifert W, Kuhnisch J, Maritzen T, Horn D, Haucke V, Hennies HC
 タイトル      Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
 雑誌        J Biol Chem 286:37665-75 (2011)
 DOI:10.1074/jbc.M111.267971
 PMID:18655112
 著者        Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB
 タイトル      Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
 雑誌        Am J Med Genet A 146A:2221-6 (2008)
 DOI:10.1002/ajmg.a.32239
 PMID:20461111
 著者        Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F
 タイトル      High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
 雑誌        Eur J Hum Genet 18:1133-40 (2010)
 DOI:10.1038/ejhg.2010.59","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00940"">H00940</a>",Cohen 症候群,"Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene.",,"COH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157680"">157680</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19526"">K19526</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536438"">C536438</a>
 OMIM: <a href=""https://www.omim.org/entry/216550"">216550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11477603"">11477603</a>
 著者        Kivitie-Kallio S, Norio R
 タイトル      Cohen syndrome: essential features, natural history, and heterogeneity.
 雑誌        Am J Med Genet 102:125-35 (2001)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(20010801)102:"">10.1002/1096-8628(20010801)102:</a><a href=""https://doi.org/2<125:"">2<125:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1439>3.0.CO;2-0"">AID-AJMG1439>3.0.CO;2-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21865173"">21865173</a>
 著者        Seifert W, Kuhnisch J, Maritzen T, Horn D, Haucke V, Hennies HC
 タイトル      Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
 雑誌        J Biol Chem 286:37665-75 (2011)
 DOI:<a href=""https://doi.org/10.1074/jbc.M111.267971"">10.1074/jbc.M111.267971</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18655112"">18655112</a>
 著者        Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB
 タイトル      Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
 雑誌        Am J Med Genet A 146A:2221-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32239"">10.1002/ajmg.a.32239</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20461111"">20461111</a>
 著者        Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F
 タイトル      High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
 雑誌        Eur J Hum Genet 18:1133-40 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.59"">10.1038/ejhg.2010.59</a>"
H00941,先天性第XII因子欠乏症,,,"Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.",血液疾患,,F12 [HSA:2161] [KO:K01328],,,,,,"ICD-11: 3B15
 ICD-10: D68.2
 OMIM: 234000","PMID:20022081
 著者        Stavrou E, Schmaier AH
 タイトル      Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis &amp; thrombosis.
 雑誌        Thromb Res 125:210-5 (2010)
 DOI:10.1016/j.thromres.2009.11.028
 PMID:16324213
 著者        D'Uva M, Strina I, Mollo A, Ranieri A, De Placido G, Di Micco P
 タイトル      Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case.
 雑誌        J Transl Med 3:43 (2005)
 DOI:10.1186/1479-5876-3-43
 PMID:18294355
 著者        Matsubayashi H, Sugi T, Suzuki T, Uchida N, Atsumi H, Izumi S, Mikami M
 タイトル      Decreased factor XII activity is associated with recurrent IVF-ET failure.
 雑誌        Am J Reprod Immunol 59:316-22 (2008)
 DOI:10.1111/j.1600-0897.2007.00564.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00941"">H00941</a>",先天性第XII因子欠乏症,"Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.",,"F12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2161"">2161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01328"">K01328</a>]",,,,,,"ICD-11: 3B15
 ICD-10: D68.2
 OMIM: <a href=""https://www.omim.org/entry/234000"">234000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20022081"">20022081</a>
 著者        Stavrou E, Schmaier AH
 タイトル      Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis &amp; thrombosis.
 雑誌        Thromb Res 125:210-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.thromres.2009.11.028"">10.1016/j.thromres.2009.11.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16324213"">16324213</a>
 著者        D'Uva M, Strina I, Mollo A, Ranieri A, De Placido G, Di Micco P
 タイトル      Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case.
 雑誌        J Transl Med 3:43 (2005)
 DOI:<a href=""https://doi.org/10.1186/1479-5876-3-43"">10.1186/1479-5876-3-43</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18294355"">18294355</a>
 著者        Matsubayashi H, Sugi T, Suzuki T, Uchida N, Atsumi H, Izumi S, Mikami M
 タイトル      Decreased factor XII activity is associated with recurrent IVF-ET failure.
 雑誌        Am J Reprod Immunol 59:316-22 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0897.2007.00564.x"">10.1111/j.1600-0897.2007.00564.x</a>"
H00942,ラブソン・メンデンホール症候群,,,"Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.",,,INSR [HSA:3643] [KO:K04527],,,,メカセルミン [DR:D03297],"For leprechaunism, a disorder with INSR mutations, see H00719.","ICD-11: 5A44
 ICD-10: E13
 MeSH: D056731
 OMIM: 262190","PMID:21869538
 著者        Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W
 タイトル      Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.
 雑誌        Endocr J 58:931-40 (2011)
 DOI:10.1507/endocrj.EJ11-0032
 PMID:15232309
 著者        Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P
 タイトル      Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
 雑誌        Medicine (Baltimore) 83:209-22 (2004)
 DOI:10.1097/01.md.0000133625.73570.54
 PMID:18717867
 著者        Parveen BA, Sindhuja R
 タイトル      Rabson-Mendenhall syndrome.
 雑誌        Int J Dermatol 47:839-41 (2008)
 DOI:10.1111/j.1365-4632.2008.03591.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00942"">H00942</a>",ラブソン・メンデンホール症候群,"Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.",,"INSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3643"">3643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04527"">K04527</a>]",,,,"メカセルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03297"">D03297</a>]","For leprechaunism, a disorder with INSR mutations, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00719."">H00719.</a>","ICD-11: 5A44
 ICD-10: E13
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056731"">D056731</a>
 OMIM: <a href=""https://www.omim.org/entry/262190"">262190</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21869538"">21869538</a>
 著者        Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W
 タイトル      Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.
 雑誌        Endocr J 58:931-40 (2011)
 DOI:<a href=""https://doi.org/10.1507/endocrj.EJ11-0032"">10.1507/endocrj.EJ11-0032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15232309"">15232309</a>
 著者        Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P
 タイトル      Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
 雑誌        Medicine (Baltimore) 83:209-22 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.md.0000133625.73570.54"">10.1097/01.md.0000133625.73570.54</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18717867"">18717867</a>
 著者        Parveen BA, Sindhuja R
 タイトル      Rabson-Mendenhall syndrome.
 雑誌        Int J Dermatol 47:839-41 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2008.03591.x"">10.1111/j.1365-4632.2008.03591.x</a>"
H00943,TARP 症候群,,,"TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.",先天奇形,,RBM10 [HSA:8241] [KO:K13094],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536942
 OMIM: 311900","PMID:20451169
 著者        Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG
 タイトル      Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
 雑誌        Am J Hum Genet 86:743-8 (2010)
 DOI:10.1016/j.ajhg.2010.04.007
 PMID:21910224
 著者        Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG
 タイトル      Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
 雑誌        Am J Med Genet A 155A:2516-20 (2011)
 DOI:10.1002/ajmg.a.34190
 PMID:12794682
 著者        Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG
 タイトル      Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.
 雑誌        Am J Med Genet A 120A:1-4 (2003)
 DOI:10.1002/ajmg.a.10201","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00943"">H00943</a>",TARP 症候群,"TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.",,"RBM10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8241"">8241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13094"">K13094</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536942"">C536942</a>
 OMIM: <a href=""https://www.omim.org/entry/311900"">311900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20451169"">20451169</a>
 著者        Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG
 タイトル      Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
 雑誌        Am J Hum Genet 86:743-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.007"">10.1016/j.ajhg.2010.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21910224"">21910224</a>
 著者        Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG
 タイトル      Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
 雑誌        Am J Med Genet A 155A:2516-20 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34190"">10.1002/ajmg.a.34190</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12794682"">12794682</a>
 著者        Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG
 タイトル      Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.
 雑誌        Am J Med Genet A 120A:1-4 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10201"">10.1002/ajmg.a.10201</a>"
H00944,ダウリング‐デゴス病,,,"Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions.",皮膚疾患,,"(DDD1) KRT5 [HSA:3852] [KO:K07605]
 (DDD2) POFUT1 [HSA:23509] [KO:K03691]
 (DDD4) POGLUT1 [HSA:56983] [KO:K13667]",,,,,,"ICD-11: EC23.0
 MeSH: C562924
 OMIM: 179850 615327 615696","PMID:20332593
 著者        Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W
 タイトル      Dowling-Degos disease: case report and review of the literature.
 雑誌        Dermatology 220:254-8 (2010)
 DOI:10.1159/000278349
 PMID:22147038
 著者        Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves Mde F, Carneiro SC
 タイトル      Dowling-Degos disease: classic clinical and histopathological presentation.
 雑誌        An Bras Dermatol 86:979-82 (2011)
 DOI:10.1590/S0365-05962011000500016
 PMID:21810386
 著者        Horner ME, Parkinson KE, Kaye V, Lynch PJ
 タイトル      Dowling-Degos disease involving the vulva and back: case report and review of the literature.
 雑誌        Dermatol Online J 17:1 (2011)
 DOI:10.5070/D38xq4s916
 PMID:16465624 (KRT5)
 著者        Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R
 タイトル      Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
 雑誌        Am J Hum Genet 78:510-9 (2006)
 DOI:10.1086/500850
 PMID:23684010 (POFUT1)
 著者        Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z
 タイトル      Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
 雑誌        Am J Hum Genet 92:895-903 (2013)
 DOI:10.1016/j.ajhg.2013.04.022
 PMID:24387993 (POGLUT1)
 著者        Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmuller J, Rutten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nurnberg P, Kruse R, Schoch S, Hanneken S, Betz RC
 タイトル      Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
 雑誌        Am J Hum Genet 94:135-43 (2014)
 DOI:10.1016/j.ajhg.2013.12.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00944"">H00944</a>",ダウリング‐デゴス病,"Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions.",,"(DDD1) KRT5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3852"">3852</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 (DDD2) POFUT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23509"">23509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03691"">K03691</a>]
 (DDD4) POGLUT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56983"">56983</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13667"">K13667</a>]",,,,,,"ICD-11: EC23.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562924"">C562924</a>
 OMIM: <a href=""https://www.omim.org/entry/179850"">179850</a> <a href=""https://www.omim.org/entry/615327"">615327</a> <a href=""https://www.omim.org/entry/615696"">615696</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20332593"">20332593</a>
 著者        Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W
 タイトル      Dowling-Degos disease: case report and review of the literature.
 雑誌        Dermatology 220:254-8 (2010)
 DOI:<a href=""https://doi.org/10.1159/000278349"">10.1159/000278349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22147038"">22147038</a>
 著者        Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves Mde F, Carneiro SC
 タイトル      Dowling-Degos disease: classic clinical and histopathological presentation.
 雑誌        An Bras Dermatol 86:979-82 (2011)
 DOI:<a href=""https://doi.org/10.1590/S0365-05962011000500016"">10.1590/S0365-05962011000500016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21810386"">21810386</a>
 著者        Horner ME, Parkinson KE, Kaye V, Lynch PJ
 タイトル      Dowling-Degos disease involving the vulva and back: case report and review of the literature.
 雑誌        Dermatol Online J 17:1 (2011)
 DOI:<a href=""https://doi.org/10.5070/D38xq4s916"">10.5070/D38xq4s916</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16465624"">16465624</a> (KRT5)
 著者        Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R
 タイトル      Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
 雑誌        Am J Hum Genet 78:510-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/500850"">10.1086/500850</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23684010"">23684010</a> (POFUT1)
 著者        Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z
 タイトル      Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
 雑誌        Am J Hum Genet 92:895-903 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.022"">10.1016/j.ajhg.2013.04.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24387993"">24387993</a> (POGLUT1)
 著者        Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmuller J, Rutten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nurnberg P, Kruse R, Schoch S, Hanneken S, Betz RC
 タイトル      Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
 雑誌        Am J Hum Genet 94:135-43 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.003"">10.1016/j.ajhg.2013.12.003</a>"
H00945,先天性第XIII因子欠乏症,,,"Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.",血液疾患,,"F13A1 [HSA:2162] [KO:K03917]
 F13B [HSA:2165] [KO:K03906]",,,,"乾燥濃縮人血液凝固第XIII因子 [DR:D08802]
 カトリデカコグ [DR:D10532]",,"ICD-11: 3B14.Z
 ICD-10: D68.2
 OMIM: 613225 613235","PMID:19141159
 著者        Hsieh L, Nugent D
 タイトル      Factor XIII deficiency.
 雑誌        Haemophilia 14:1190-200 (2008)
 DOI:10.1111/j.1365-2516.2008.01857.x
 PMID:9028951
 著者        Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A
 タイトル      Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
 雑誌        Blood 89:1279-87 (1997)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00945"">H00945</a>",先天性第XIII因子欠乏症,"Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.",,"F13A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2162"">2162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03917"">K03917</a>]
 F13B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2165"">2165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03906"">K03906</a>]",,,,"乾燥濃縮人血液凝固第XIII因子 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08802"">D08802</a>]
 カトリデカコグ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10532"">D10532</a>]",,"ICD-11: 3B14.Z
 ICD-10: D68.2
 OMIM: <a href=""https://www.omim.org/entry/613225"">613225</a> <a href=""https://www.omim.org/entry/613235"">613235</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141159"">19141159</a>
 著者        Hsieh L, Nugent D
 タイトル      Factor XIII deficiency.
 雑誌        Haemophilia 14:1190-200 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01857.x"">10.1111/j.1365-2516.2008.01857.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9028951"">9028951</a>
 著者        Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A
 タイトル      Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
 雑誌        Blood 89:1279-87 (1997)"
H00946,Arts 症候群,,,"Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.",先天奇形,,PRPS1 [HSA:5631] [KO:K00948],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: C535388
 OMIM: 301835","PMID:20301738
 著者        de Brouwer APM, Duley JA, Christodoulou J
 タイトル      Arts Syndrome
 雑誌        GeneReviews (1993)
 PMID:17701896
 著者        de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H
 タイトル      Arts syndrome is caused by loss-of-function mutations in PRPS1.
 雑誌        Am J Hum Genet 81:507-18 (2007)
 DOI:10.1086/520706
 PMID:20380929
 著者        de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
 タイトル      PRPS1 mutations: four distinct syndromes and potential treatment.
 雑誌        Am J Hum Genet 86:506-18 (2010)
 DOI:10.1016/j.ajhg.2010.02.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00946"">H00946</a>",Arts 症候群,"Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.",,"PRPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5631"">5631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00948"">K00948</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535388"">C535388</a>
 OMIM: <a href=""https://www.omim.org/entry/301835"">301835</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301738"">20301738</a>
 著者        de Brouwer APM, Duley JA, Christodoulou J
 タイトル      Arts Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701896"">17701896</a>
 著者        de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H
 タイトル      Arts syndrome is caused by loss-of-function mutations in PRPS1.
 雑誌        Am J Hum Genet 81:507-18 (2007)
 DOI:<a href=""https://doi.org/10.1086/520706"">10.1086/520706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20380929"">20380929</a>
 著者        de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
 タイトル      PRPS1 mutations: four distinct syndromes and potential treatment.
 雑誌        Am J Hum Genet 86:506-18 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.024"">10.1016/j.ajhg.2010.02.024</a>"
H00947,毛母腫,,,Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.,皮膚疾患,,CTNNB1 [HSA:1499] [KO:K02105],,,,,,"ICD-11: 2F22
 ICD-10: D23
 MeSH: D018296
 OMIM: 132600","PMID:11708952
 著者        Tsao H.
 タイトル      Genetics of nonmelanoma skin cancer.
 雑誌        Arch Dermatol 137:1486-92 (2001)
 DOI:10.1001/archderm.137.11.1486
 PMID:10192393
 著者        Chan EF, Gat U, McNiff JM, Fuchs E
 タイトル      A common human skin tumour is caused by activating mutations in beta-catenin.
 雑誌        Nat Genet 21:410-3 (1999)
 DOI:10.1038/7747
 PMID:15606674
 著者        Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH
 タイトル      Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin.
 雑誌        J Cutan Pathol 32:148-57 (2005)
 DOI:10.1111/j.0303-6987.2005.00267.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00947"">H00947</a>",毛母腫,Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.,,"CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]",,,,,,"ICD-11: 2F22
 ICD-10: D23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018296"">D018296</a>
 OMIM: <a href=""https://www.omim.org/entry/132600"">132600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11708952"">11708952</a>
 著者        Tsao H.
 タイトル      Genetics of nonmelanoma skin cancer.
 雑誌        Arch Dermatol 137:1486-92 (2001)
 DOI:<a href=""https://doi.org/10.1001/archderm.137.11.1486"">10.1001/archderm.137.11.1486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10192393"">10192393</a>
 著者        Chan EF, Gat U, McNiff JM, Fuchs E
 タイトル      A common human skin tumour is caused by activating mutations in beta-catenin.
 雑誌        Nat Genet 21:410-3 (1999)
 DOI:<a href=""https://doi.org/10.1038/7747"">10.1038/7747</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15606674"">15606674</a>
 著者        Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH
 タイトル      Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin.
 雑誌        J Cutan Pathol 32:148-57 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0303-6987.2005.00267.x"">10.1111/j.0303-6987.2005.00267.x</a>"
H00948,腎性低尿酸血症,,,"Renal hypouricemia (RHUC) is a disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: apical URAT1 (SLC22A12) and basolateral GLUT9 (SLC2A9). And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure.",,,"(RHUC1) SLC22A12 [HSA:116085] [KO:K08208]
 (RHUC2) SLC2A9 [HSA:56606] [KO:K08146]",,,,,,"ICD-11: GB90.4Y
 MeSH: C537757
 OMIM: 220150 612076","PMID:19926891
 著者        Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ
 タイトル      Homozygous SLC2A9 mutations cause severe renal hypouricemia.
 雑誌        J Am Soc Nephrol 21:64-72 (2010)
 DOI:10.1681/ASN.2009040406
 PMID:21810765
 著者        Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ
 タイトル      Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
 雑誌        Nephrol Dial Transplant 27:1035-41 (2012)
 DOI:10.1093/ndt/gfr419
 PMID:20810651
 著者        Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, Yamada H, Shimada H, Kimura T, Katada T, Fukutomi T, Tomita K, Urano W, Yamanaka H, Seki G, Fujita T, Moriyama Y, Yamada A, Uchida S, Wempe MF, Endou H, Sakurai H
 タイトル      Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate.
 雑誌        J Biol Chem 285:35123-32 (2010)
 DOI:10.1074/jbc.M110.121301","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00948"">H00948</a>",腎性低尿酸血症,"Renal hypouricemia (RHUC) is a disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: apical URAT1 (SLC22A12) and basolateral GLUT9 (SLC2A9). And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure.",,"(RHUC1) SLC22A12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116085"">116085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08208"">K08208</a>]
 (RHUC2) SLC2A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56606"">56606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08146"">K08146</a>]",,,,,,"ICD-11: GB90.4Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537757"">C537757</a>
 OMIM: <a href=""https://www.omim.org/entry/220150"">220150</a> <a href=""https://www.omim.org/entry/612076"">612076</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19926891"">19926891</a>
 著者        Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ
 タイトル      Homozygous SLC2A9 mutations cause severe renal hypouricemia.
 雑誌        J Am Soc Nephrol 21:64-72 (2010)
 DOI:<a href=""https://doi.org/10.1681/ASN.2009040406"">10.1681/ASN.2009040406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21810765"">21810765</a>
 著者        Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ
 タイトル      Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
 雑誌        Nephrol Dial Transplant 27:1035-41 (2012)
 DOI:<a href=""https://doi.org/10.1093/ndt/gfr419"">10.1093/ndt/gfr419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20810651"">20810651</a>
 著者        Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, Yamada H, Shimada H, Kimura T, Katada T, Fukutomi T, Tomita K, Urano W, Yamanaka H, Seki G, Fujita T, Moriyama Y, Yamada A, Uchida S, Wempe MF, Endou H, Sakurai H
 タイトル      Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate.
 雑誌        J Biol Chem 285:35123-32 (2010)
 DOI:<a href=""https://doi.org/10.1074/jbc.M110.121301"">10.1074/jbc.M110.121301</a>"
H00949,巣状皮膚低形成,,,"Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene have been shown to cause the disease.",先天奇形,,PORCN [HSA:64840] [KO:K00181],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: D005489
 OMIM: 305600","PMID:22250236
 著者        Maalouf D, Megarbane H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Megarbane A
 タイトル      A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
 雑誌        Arch Dermatol 148:85-8 (2012)
 DOI:10.1001/archdermatol.2011.343
 PMID:18325042
 著者        Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V
 タイトル      Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
 雑誌        Clin Genet 73:373-9 (2008)
 DOI:10.1111/j.1399-0004.2008.00975.x
 PMID:21472892
 著者        Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC
 タイトル      Mutation update for the PORCN gene.
 雑誌        Hum Mutat 32:723-8 (2011)
 DOI:10.1002/humu.21505","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00949"">H00949</a>",巣状皮膚低形成,"Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are frequently reported. Mutations in the PORCN gene have been shown to cause the disease.",,"PORCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64840"">64840</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00181"">K00181</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005489"">D005489</a>
 OMIM: <a href=""https://www.omim.org/entry/305600"">305600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22250236"">22250236</a>
 著者        Maalouf D, Megarbane H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Megarbane A
 タイトル      A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
 雑誌        Arch Dermatol 148:85-8 (2012)
 DOI:<a href=""https://doi.org/10.1001/archdermatol.2011.343"">10.1001/archdermatol.2011.343</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18325042"">18325042</a>
 著者        Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V
 タイトル      Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
 雑誌        Clin Genet 73:373-9 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.00975.x"">10.1111/j.1399-0004.2008.00975.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21472892"">21472892</a>
 著者        Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC
 タイトル      Mutation update for the PORCN gene.
 雑誌        Hum Mutat 32:723-8 (2011)
 DOI:<a href=""https://doi.org/10.1002/humu.21505"">10.1002/humu.21505</a>"
H00950,ARC 症候群,,,"Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.",先天奇形,,"VPS33B [HSA:26276] [KO:K23281]
 VIPAR [HSA:63894] [KO:K23287]",,,,,,"ICD-11: 5C58.0Y
 ICD-10: Q89.7
 MeSH: C535382
 OMIM: 208085 613404","PMID:11668108
 著者        Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA
 タイトル      ARC syndrome: an expanding range of phenotypes.
 雑誌        Arch Dis Child 85:415-20 (2001)
 DOI:10.1136/adc.85.5.415
 PMID:8529684
 著者        Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C
 タイトル      Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
 雑誌        Eur J Pediatr 154:835-9 (1995)
 DOI:10.1007/BF01959793
 PMID:20190753
 著者        Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P
 タイトル      Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
 雑誌        Nat Genet 42:303-12 (2010)
 DOI:10.1038/ng.538
 PMID:19274792
 著者        Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW
 タイトル      Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
 雑誌        J Pediatr Gastroenterol Nutr 48:348-54 (2009)
 DOI:10.1097/MPG.0b013e31817fcb3f
 PMID:16492441
 著者        Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS
 タイトル      VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
 雑誌        J Pediatr 148:269-71 (2006)
 DOI:10.1016/j.jpeds.2005.10.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00950"">H00950</a>",ARC 症候群,"Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.",,"VPS33B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26276"">26276</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23281"">K23281</a>]
 VIPAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63894"">63894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23287"">K23287</a>]",,,,,,"ICD-11: 5C58.0Y
 ICD-10: Q89.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535382"">C535382</a>
 OMIM: <a href=""https://www.omim.org/entry/208085"">208085</a> <a href=""https://www.omim.org/entry/613404"">613404</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11668108"">11668108</a>
 著者        Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA
 タイトル      ARC syndrome: an expanding range of phenotypes.
 雑誌        Arch Dis Child 85:415-20 (2001)
 DOI:<a href=""https://doi.org/10.1136/adc.85.5.415"">10.1136/adc.85.5.415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8529684"">8529684</a>
 著者        Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C
 タイトル      Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
 雑誌        Eur J Pediatr 154:835-9 (1995)
 DOI:<a href=""https://doi.org/10.1007/BF01959793"">10.1007/BF01959793</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20190753"">20190753</a>
 著者        Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P
 タイトル      Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
 雑誌        Nat Genet 42:303-12 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.538"">10.1038/ng.538</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19274792"">19274792</a>
 著者        Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW
 タイトル      Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
 雑誌        J Pediatr Gastroenterol Nutr 48:348-54 (2009)
 DOI:<a href=""https://doi.org/10.1097/MPG.0b013e31817fcb3f"">10.1097/MPG.0b013e31817fcb3f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16492441"">16492441</a>
 著者        Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS
 タイトル      VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
 雑誌        J Pediatr 148:269-71 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jpeds.2005.10.005"">10.1016/j.jpeds.2005.10.005</a>"
H00951,Reis-Bucklers 角膜変性症,,,"Reis-Bucklers corneal dystrophy (RBCD) is a progressive autosomal dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and scarring cause marked visual loss and recurrent corneal erosions lead to significant pain. In RBCD, Bowman's membrane is disrupted or absent and instead is replaced by a fibrocellular tissue with deposition of rodlike bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene.",神経系疾患,,TGFBI [HSA:7045] [KO:K19519],,,,,Thiel-Behnke dystrophies (TBCD) is described in [DS:H00952],"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C535476
 OMIM: 608470","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00951"">H00951</a>",Reis-Bucklers 角膜変性症,"Reis-Bucklers corneal dystrophy (RBCD) is a progressive autosomal dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and scarring cause marked visual loss and recurrent corneal erosions lead to significant pain. In RBCD, Bowman's membrane is disrupted or absent and instead is replaced by a fibrocellular tissue with deposition of rodlike bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene.",,"TGFBI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7045"">7045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19519"">K19519</a>]",,,,,"Thiel-Behnke dystrophies (TBCD) is described in [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00952"">H00952</a>]","ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535476"">C535476</a>
 OMIM: <a href=""https://www.omim.org/entry/608470"">608470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>"
H00952,Thiel–Behnke 角膜変性症,,,"Thiel-Behnke dystrophy (TBCD) is an autosomal dominant dystrophy with recurrent corneal erosions developing in the first and second decade of life. TBCD shares many similarities with Reis-Bucklers corneal dystrophy (RBCD), but decreasing visual acuity is seen later than with RBCD. Electron microscopy reveals curly fibers deposited in Bowman's layer and this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also linked to a mutation on chromosome 10q23-24, the gene product is currently unknown.",神経系疾患,,TGFBI [HSA:7045] [KO:K19519],,,,,Reis-Bucklers corneal dystrophy (RBCD) is described in [DS:H00951],"ICD-11: 9A70.Y
 ICD-10: H18.5
 OMIM: 602082","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00952"">H00952</a>",Thiel–Behnke 角膜変性症,"Thiel-Behnke dystrophy (TBCD) is an autosomal dominant dystrophy with recurrent corneal erosions developing in the first and second decade of life. TBCD shares many similarities with Reis-Bucklers corneal dystrophy (RBCD), but decreasing visual acuity is seen later than with RBCD. Electron microscopy reveals curly fibers deposited in Bowman's layer and this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also linked to a mutation on chromosome 10q23-24, the gene product is currently unknown.",,"TGFBI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7045"">7045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19519"">K19519</a>]",,,,,"Reis-Bucklers corneal dystrophy (RBCD) is described in [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00951"">H00951</a>]","ICD-11: 9A70.Y
 ICD-10: H18.5
 OMIM: <a href=""https://www.omim.org/entry/602082"">602082</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>"
H00953,"膠様滴状角膜変性症;
 角膜アミロイド症",,,"Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.",神経系疾患,,TACSTD2 [HSA:4070] [KO:K17288],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C535480
 OMIM: 204870","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00953"">H00953</a>","膠様滴状角膜変性症;
 角膜アミロイド症","Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00956"">H00956</a>] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.",,"TACSTD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4070"">4070</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17288"">K17288</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535480"">C535480</a>
 OMIM: <a href=""https://www.omim.org/entry/204870"">204870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>"
H00954,斑状角膜変性症,,,"Macular corneal dystrophy (MCD), inherited in an autosomal recessive fashion, is the least common but severe form of stromal dystrophy characterized by superficial gray-white corneal opacities that progressively increase to involve the entire corneal stroma from limbus to limbus. Patients experience progressive decreased vision and irritation as the diseases worsens, and will have vision severely affected by the third to fourth decade of life. It has been shown that a specific sulfation step in the production of keratan sulfate, the major glycosaminoglycan of the corneal stroma, is impaired in MCD. This results in the accumulation of glycosaminoglycans that form the abnormal deposits. Mutations in the CHST6 gene, which encodes an enzyme that catalyzes the sulfation of keratan sulfate, are responsible for most cases of MCD.",神経系疾患,,CHST6 [HSA:4166] [KO:K09671],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: D003317
 OMIM: 217800","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00954"">H00954</a>",斑状角膜変性症,"Macular corneal dystrophy (MCD), inherited in an autosomal recessive fashion, is the least common but severe form of stromal dystrophy characterized by superficial gray-white corneal opacities that progressively increase to involve the entire corneal stroma from limbus to limbus. Patients experience progressive decreased vision and irritation as the diseases worsens, and will have vision severely affected by the third to fourth decade of life. It has been shown that a specific sulfation step in the production of keratan sulfate, the major glycosaminoglycan of the corneal stroma, is impaired in MCD. This results in the accumulation of glycosaminoglycans that form the abnormal deposits. Mutations in the CHST6 gene, which encodes an enzyme that catalyzes the sulfation of keratan sulfate, are responsible for most cases of MCD.",,"CHST6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4166"">4166</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09671"">K09671</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003317"">D003317</a>
 OMIM: <a href=""https://www.omim.org/entry/217800"">217800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>"
H00955,顆粒状角膜変性症,,,"Granular dystrophy (GCD), inherited in an autosomal dominant fasion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene.",神経系疾患,,TGFBI [HSA:7045] [KO:K19519],,,,,"In regard to Granular corneal dystrophy (GCD) type III, see also [DS:H00951].","ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C537304 C535474
 OMIM: 121900 607541 608470","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00955"">H00955</a>",顆粒状角膜変性症,"Granular dystrophy (GCD), inherited in an autosomal dominant fasion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene.",,"TGFBI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7045"">7045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19519"">K19519</a>]",,,,,"In regard to Granular corneal dystrophy (GCD) type III, see also [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00951]."">H00951].</a>","ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537304"">C537304</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535474"">C535474</a>
 OMIM: <a href=""https://www.omim.org/entry/121900"">121900</a> <a href=""https://www.omim.org/entry/607541"">607541</a> <a href=""https://www.omim.org/entry/608470"">608470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>"
H00956,"格子状角膜変性症
 下位グループ    アミロイド症フィンランド型 [DS:H02322]",,,"Lattice corneal dystrophy (LCD), the most common of the stromal cornea dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported.",神経系疾患,,TGFBI [HSA:7045] [KO:K19519],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 OMIM: 122200 608471","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173
 PMID:16900028
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:10.1097/01.icu.0000233955.94347.84
 PMID:15531312
 著者        Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK
 タイトル      Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
 雑誌        Am J Ophthalmol 138:772-81 (2004)
 DOI:10.1016/j.ajo.2004.06.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00956"">H00956</a>","格子状角膜変性症
 下位グループ    アミロイド症フィンランド型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02322"">H02322</a>]","Lattice corneal dystrophy (LCD), the most common of the stromal cornea dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported.",,"TGFBI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7045"">7045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19519"">K19519</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 OMIM: <a href=""https://www.omim.org/entry/122200"">122200</a> <a href=""https://www.omim.org/entry/608471"">608471</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16900028"">16900028</a>
 著者        Pieramici SF, Afshari NA
 タイトル      Genetics of corneal dystrophies: the evolving landscape.
 雑誌        Curr Opin Ophthalmol 17:361-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.icu.0000233955.94347.84"">10.1097/01.icu.0000233955.94347.84</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15531312"">15531312</a>
 著者        Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK
 タイトル      Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
 雑誌        Am J Ophthalmol 138:772-81 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ajo.2004.06.021"">10.1016/j.ajo.2004.06.021</a>"
H00957,斑状角膜変性症,,,"Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute flecks disseminated throughout the corneal stroma. FCD does not affect vision and does not require treatment, but mild photophobia has been reported. Histopathology of the affected areas showed that the flecks correspond to areas of swollen keratocytes with cytoplasmic vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an enzyme with a dual specificity that has both protein and lipid kinase activity.",神経系疾患,,PIP5K3 [HSA:200576] [KO:K00921],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C563256
 OMIM: 121850","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00957"">H00957</a>",斑状角膜変性症,"Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute flecks disseminated throughout the corneal stroma. FCD does not affect vision and does not require treatment, but mild photophobia has been reported. Histopathology of the affected areas showed that the flecks correspond to areas of swollen keratocytes with cytoplasmic vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an enzyme with a dual specificity that has both protein and lipid kinase activity.",,"PIP5K3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200576"">200576</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00921"">K00921</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563256"">C563256</a>
 OMIM: <a href=""https://www.omim.org/entry/121850"">121850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>"
H00958,先天性角膜実質変性症,,,"Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting amblyopia with searching nystagmus are common in affected individuals. CSCD is linked with mutations in the decorin gene, which encodes for a dermatan sulfate proteoglycan.",神経系疾患,,DCN [HSA:1634] [KO:K04660],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C566452
 OMIM: 610048","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00958"">H00958</a>",先天性角膜実質変性症,"Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting amblyopia with searching nystagmus are common in affected individuals. CSCD is linked with mutations in the decorin gene, which encodes for a dermatan sulfate proteoglycan.",,"DCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1634"">1634</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04660"">K04660</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566452"">C566452</a>
 OMIM: <a href=""https://www.omim.org/entry/610048"">610048</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>"
H00959,シュナイダー角膜変性症,,,"Schnyder corneal dystrophy (SCD) is a corneal dystrophy that is characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with crystals within the corneal stroma. Over time, an initially unremarkable corneal stroma acquires small white opacities and a diffuse haze. In approximately 50% of cases, crystals are not evident clinically (Schnyder crystalline dystrophy sine crystals). Most cases of SCD lack an obvious systemic disorder, but hypercholesterolemia is common, and so are associated manifestations, such as arcus lipoides and xanthelasma. An opaque disc of corneal crystals or other lipids may diminish vision sufficiently in both eyes to result in the need for a corneal graft. SCD is caused by one of numerous mutations in the UBIAD1 gene.",神経系疾患,,UBIAD1 [HSA:29914] [KO:K00810],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C535475
 OMIM: 121800","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:18214787
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:10.1080/08820530701745173","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00959"">H00959</a>",シュナイダー角膜変性症,"Schnyder corneal dystrophy (SCD) is a corneal dystrophy that is characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with crystals within the corneal stroma. Over time, an initially unremarkable corneal stroma acquires small white opacities and a diffuse haze. In approximately 50% of cases, crystals are not evident clinically (Schnyder crystalline dystrophy sine crystals). Most cases of SCD lack an obvious systemic disorder, but hypercholesterolemia is common, and so are associated manifestations, such as arcus lipoides and xanthelasma. An opaque disc of corneal crystals or other lipids may diminish vision sufficiently in both eyes to result in the need for a corneal graft. SCD is caused by one of numerous mutations in the UBIAD1 gene.",,"UBIAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29914"">29914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00810"">K00810</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535475"">C535475</a>
 OMIM: <a href=""https://www.omim.org/entry/121800"">121800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18214787"">18214787</a>
 著者        Poulaki V, Colby K
 タイトル      Genetics of anterior and stromal corneal dystrophies.
 雑誌        Semin Ophthalmol 23:9-17 (2008)
 DOI:<a href=""https://doi.org/10.1080/08820530701745173"">10.1080/08820530701745173</a>"
H00960,フックス角膜内皮変性症,,,"Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result, the endothelial layer is eventually no longer able to support corneal deturgescence, leading to corneal edema and decreased in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high.",神経系疾患,,"(FECD1) COL8A2 [HSA:1296] [KO:K23455]
 (FECD3) TCF4 [HSA:6925] [KO:K15603]
 (FECD4) SLC4A11 [HSA:83959] [KO:K13862]
 (FECD6) ZEB1 [HSA:6935] [KO:K09299]
 (FECD8) AGBL1 [HSA:123624] [KO:K23436]",,,,,,"ICD-11: 9A70.0
 ICD-10: H18.5
 MeSH: D005642
 OMIM: 136800 613267 613268 613270 615523","PMID:19236704
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:10.1186/1750-1172-4-7
 PMID:20964980
 著者        Elhalis H, Azizi B, Jurkunas UV
 タイトル      Fuchs endothelial corneal dystrophy.
 雑誌        Ocul Surf 8:173-84 (2010)
 DOI:10.1016/S1542-0124(12)70232-X
 PMID:18024822 (COL8A2)
 著者        Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ
 タイトル      British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
 雑誌        Br J Ophthalmol 91:1717-8 (2007)
 DOI:10.1136/bjo.2007.115154
 PMID:26401622 (TCF4)
 著者        Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV
 タイトル      Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.
 雑誌        JAMA Ophthalmol 133:1386-91 (2015)
 DOI:10.1001/jamaophthalmol.2015.3430
 PMID:18024964 (SLC4A11)
 著者        Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T
 タイトル      SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
 雑誌        Hum Mol Genet 17:656-66 (2008)
 DOI:10.1093/hmg/ddm337
 PMID:20036349 (ZEB1)
 著者        Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N
 タイトル      Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
 雑誌        Am J Hum Genet 86:45-53 (2010)
 DOI:10.1016/j.ajhg.2009.12.001
 PMID:24094747 (AGBL1 TCF4)
 著者        Riazuddin SA, Vasanth S, Katsanis N, Gottsch JD
 タイトル      Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
 雑誌        Am J Hum Genet 93:758-64 (2013)
 DOI:10.1016/j.ajhg.2013.08.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00960"">H00960</a>",フックス角膜内皮変性症,"Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result, the endothelial layer is eventually no longer able to support corneal deturgescence, leading to corneal edema and decreased in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high.",,"(FECD1) COL8A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1296"">1296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23455"">K23455</a>]
 (FECD3) TCF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6925"">6925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15603"">K15603</a>]
 (FECD4) SLC4A11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83959"">83959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13862"">K13862</a>]
 (FECD6) ZEB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6935"">6935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09299"">K09299</a>]
 (FECD8) AGBL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123624"">123624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23436"">K23436</a>]",,,,,,"ICD-11: 9A70.0
 ICD-10: H18.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005642"">D005642</a>
 OMIM: <a href=""https://www.omim.org/entry/136800"">136800</a> <a href=""https://www.omim.org/entry/613267"">613267</a> <a href=""https://www.omim.org/entry/613268"">613268</a> <a href=""https://www.omim.org/entry/613270"">613270</a> <a href=""https://www.omim.org/entry/615523"">615523</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19236704"">19236704</a>
 著者        Klintworth GK
 タイトル      Corneal dystrophies.
 雑誌        Orphanet J Rare Dis 4:7 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-7"">10.1186/1750-1172-4-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20964980"">20964980</a>
 著者        Elhalis H, Azizi B, Jurkunas UV
 タイトル      Fuchs endothelial corneal dystrophy.
 雑誌        Ocul Surf 8:173-84 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1542-0124(12)70232-X"">10.1016/S1542-0124(12)70232-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18024822"">18024822</a> (COL8A2)
 著者        Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ
 タイトル      British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
 雑誌        Br J Ophthalmol 91:1717-8 (2007)
 DOI:<a href=""https://doi.org/10.1136/bjo.2007.115154"">10.1136/bjo.2007.115154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26401622"">26401622</a> (TCF4)
 著者        Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV
 タイトル      Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.
 雑誌        JAMA Ophthalmol 133:1386-91 (2015)
 DOI:<a href=""https://doi.org/10.1001/jamaophthalmol.2015.3430"">10.1001/jamaophthalmol.2015.3430</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18024964"">18024964</a> (SLC4A11)
 著者        Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T
 タイトル      SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
 雑誌        Hum Mol Genet 17:656-66 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm337"">10.1093/hmg/ddm337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20036349"">20036349</a> (ZEB1)
 著者        Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N
 タイトル      Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
 雑誌        Am J Hum Genet 86:45-53 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.001"">10.1016/j.ajhg.2009.12.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24094747"">24094747</a> (AGBL1 <a href=""https://pubmed.ncbi.nlm.nih.gov/TCF4)"">TCF4)</a>
 著者        Riazuddin SA, Vasanth S, Katsanis N, Gottsch JD
 タイトル      Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
 雑誌        Am J Hum Genet 93:758-64 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.010"">10.1016/j.ajhg.2013.08.010</a>"
H00961,後部多形性角膜変性症,,,"Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically presenting as geographical lesions, bands, and vesicles. It primarily affects the corneal endothelium to produce epithelial-like transformation and irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD.",神経系疾患,,"(PPCD1) OVOL2 [HSA:58495] [KO:K09216]
 (PPCD2) COL8A2 [HSA:1296] [KO:K23455]
 (PPCD3) ZEB1 [HSA:6935] [KO:K09299]
 (PPCD4) GRHL2 [HSA:79977] [KO:K09275]",,,,,,"ICD-11: LA11.5
 ICD-10: Q13.3
 MeSH: C562745
 OMIM: 122000 609140 609141 618031","PMID:18097987
 著者        Ciralsky J, Colby K
 タイトル      Congenital corneal opacities: a review with a focus on genetics.
 雑誌        Semin Ophthalmol 22:241-6 (2007)
 DOI:10.1080/08820530701745157
 PMID:21695473
 著者        Merjava S, Malinova E, Liskova P, Filipec M, Zemanova Z, Michalova K, Jirsova K
 タイトル      Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium.
 雑誌        Histochem Cell Biol 136:93-101 (2011)
 DOI:10.1007/s00418-011-0830-2
 PMID:21067486
 著者        Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ
 タイトル      Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.
 雑誌        Ophthalmic Genet 31:230-4 (2010)
 DOI:10.3109/13816810.2010.518577
 PMID:28046031
 著者        Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ
 タイトル      Confirmation of the OVOL2 Promoter Mutation c.-307T-C in Posterior Polymorphous Corneal Dystrophy 1.
 雑誌        PLoS One 12:e0169215 (2017)
 DOI:10.1371/journal.pone.0169215
 PMID:16303937
 著者        Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND
 タイトル      Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
 雑誌        Invest Ophthalmol Vis Sci 46:4480-4 (2005)
 DOI:10.1167/iovs.05-0269
 PMID:29499165
 著者        Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ
 タイトル      Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
 雑誌        Am J Hum Genet 102:447-459 (2018)
 DOI:10.1016/j.ajhg.2018.02.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00961"">H00961</a>",後部多形性角膜変性症,"Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically presenting as geographical lesions, bands, and vesicles. It primarily affects the corneal endothelium to produce epithelial-like transformation and irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD.",,"(PPCD1) OVOL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58495"">58495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09216"">K09216</a>]
 (PPCD2) COL8A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1296"">1296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23455"">K23455</a>]
 (PPCD3) ZEB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6935"">6935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09299"">K09299</a>]
 (PPCD4) GRHL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79977"">79977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09275"">K09275</a>]",,,,,,"ICD-11: LA11.5
 ICD-10: Q13.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562745"">C562745</a>
 OMIM: <a href=""https://www.omim.org/entry/122000"">122000</a> <a href=""https://www.omim.org/entry/609140"">609140</a> <a href=""https://www.omim.org/entry/609141"">609141</a> <a href=""https://www.omim.org/entry/618031"">618031</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18097987"">18097987</a>
 著者        Ciralsky J, Colby K
 タイトル      Congenital corneal opacities: a review with a focus on genetics.
 雑誌        Semin Ophthalmol 22:241-6 (2007)
 DOI:<a href=""https://doi.org/10.1080/08820530701745157"">10.1080/08820530701745157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21695473"">21695473</a>
 著者        Merjava S, Malinova E, Liskova P, Filipec M, Zemanova Z, Michalova K, Jirsova K
 タイトル      Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium.
 雑誌        Histochem Cell Biol 136:93-101 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00418-011-0830-2"">10.1007/s00418-011-0830-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21067486"">21067486</a>
 著者        Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ
 タイトル      Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.
 雑誌        Ophthalmic Genet 31:230-4 (2010)
 DOI:<a href=""https://doi.org/10.3109/13816810.2010.518577"">10.3109/13816810.2010.518577</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28046031"">28046031</a>
 著者        Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ
 タイトル      Confirmation of the OVOL2 Promoter Mutation c.-307T-C in Posterior Polymorphous Corneal Dystrophy 1.
 雑誌        PLoS One 12:e0169215 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0169215"">10.1371/journal.pone.0169215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16303937"">16303937</a>
 著者        Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND
 タイトル      Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
 雑誌        Invest Ophthalmol Vis Sci 46:4480-4 (2005)
 DOI:<a href=""https://doi.org/10.1167/iovs.05-0269"">10.1167/iovs.05-0269</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29499165"">29499165</a>
 著者        Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ
 タイトル      Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
 雑誌        Am J Hum Genet 102:447-459 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.02.002"">10.1016/j.ajhg.2018.02.002</a>"
H00962,RIDDLE 症候群,,,"RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems.",免疫系疾患,,RNF168 [HSA:165918] [KO:K20779],,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: D82.8
 MeSH: C567453
 OMIM: 611943","PMID:21426255
 著者        Blundred RM, Stewart GS
 タイトル      DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.
 雑誌        Expert Rev Clin Immunol 7:169-85 (2011)
 DOI:10.1586/eci.10.93
 PMID:19372751
 著者        Stewart GS
 タイトル      Solving the RIDDLE of 53BP1 recruitment to sites of damage.
 雑誌        Cell Cycle 8:1532-8 (2009)
 DOI:10.4161/cc.8.10.8351
 PMID:19203578
 著者        Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D
 タイトル      The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
 雑誌        Cell 136:420-34 (2009)
 DOI:10.1016/j.cell.2008.12.042
 PMID:17940005
 著者        Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM
 タイトル      RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
 雑誌        Proc Natl Acad Sci U S A 104:16910-5 (2007)
 DOI:10.1073/pnas.0708408104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00962"">H00962</a>",RIDDLE 症候群,"RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems.",,"RNF168 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:165918"">165918</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20779"">K20779</a>]",,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: D82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567453"">C567453</a>
 OMIM: <a href=""https://www.omim.org/entry/611943"">611943</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21426255"">21426255</a>
 著者        Blundred RM, Stewart GS
 タイトル      DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.
 雑誌        Expert Rev Clin Immunol 7:169-85 (2011)
 DOI:<a href=""https://doi.org/10.1586/eci.10.93"">10.1586/eci.10.93</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19372751"">19372751</a>
 著者        Stewart GS
 タイトル      Solving the RIDDLE of 53BP1 recruitment to sites of damage.
 雑誌        Cell Cycle 8:1532-8 (2009)
 DOI:<a href=""https://doi.org/10.4161/cc.8.10.8351"">10.4161/cc.8.10.8351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19203578"">19203578</a>
 著者        Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D
 タイトル      The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
 雑誌        Cell 136:420-34 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2008.12.042"">10.1016/j.cell.2008.12.042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17940005"">17940005</a>
 著者        Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM
 タイトル      RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
 雑誌        Proc Natl Acad Sci U S A 104:16910-5 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0708408104"">10.1073/pnas.0708408104</a>"
H00963,"先天遺伝性角膜内皮変性症
 下位グループ    Harboyan 症候群",,,"Congenital hereditary endothelial dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth or in the early years of life. Two subtypes of CHED based on differences in the mode of inheritance are known, an autosomal dominant (CHED1) and an autosomal recessive (CHED2) type. Clinically, both forms of the disorder are similar; the distinction between them is made by the age at onset and the presence or absence of associated symptoms. Both CHED1 and CHED2 have been mapped to chromosome 20. The Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) has been identified as the candidate gene for CHED2. Mutations in SLC4A11 are described in Harboyan syndrome, which is characterized as CHED2 with hearing loss. Most patients with CHED have severe visual impairment and often require penetrating keratoplasty.",神経系疾患,,SLC4A11 [HSA:83959] [KO:K13862],,,,,,"ICD-11: 9A70.0
 ICD-10: H18.5
 OMIM: 217700 217400","PMID:18097987
 著者        Ciralsky J, Colby K
 タイトル      Congenital corneal opacities: a review with a focus on genetics.
 雑誌        Semin Ophthalmol 22:241-6 (2007)
 DOI:10.1080/08820530701745157
 PMID:21203343
 著者        Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Nag TC, Vajpayee RB
 タイトル      Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
 雑誌        Mol Vis 16:2955-63 (2010)
 PMID:18474783
 著者        Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P
 タイトル      Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
 雑誌        Arch Ophthalmol 126:700-8 (2008)
 DOI:10.1001/archopht.126.5.700","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00963"">H00963</a>","先天遺伝性角膜内皮変性症
 下位グループ    Harboyan 症候群","Congenital hereditary endothelial dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth or in the early years of life. Two subtypes of CHED based on differences in the mode of inheritance are known, an autosomal dominant (CHED1) and an autosomal recessive (CHED2) type. Clinically, both forms of the disorder are similar; the distinction between them is made by the age at onset and the presence or absence of associated symptoms. Both CHED1 and CHED2 have been mapped to chromosome 20. The Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) has been identified as the candidate gene for CHED2. Mutations in SLC4A11 are described in Harboyan syndrome, which is characterized as CHED2 with hearing loss. Most patients with CHED have severe visual impairment and often require penetrating keratoplasty.",,"SLC4A11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83959"">83959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13862"">K13862</a>]",,,,,,"ICD-11: 9A70.0
 ICD-10: H18.5
 OMIM: <a href=""https://www.omim.org/entry/217700"">217700</a> <a href=""https://www.omim.org/entry/217400"">217400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18097987"">18097987</a>
 著者        Ciralsky J, Colby K
 タイトル      Congenital corneal opacities: a review with a focus on genetics.
 雑誌        Semin Ophthalmol 22:241-6 (2007)
 DOI:<a href=""https://doi.org/10.1080/08820530701745157"">10.1080/08820530701745157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21203343"">21203343</a>
 著者        Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Nag TC, Vajpayee RB
 タイトル      Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
 雑誌        Mol Vis 16:2955-63 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18474783"">18474783</a>
 著者        Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P
 タイトル      Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
 雑誌        Arch Ophthalmol 126:700-8 (2008)
 DOI:<a href=""https://doi.org/10.1001/archopht.126.5.700"">10.1001/archopht.126.5.700</a>"
H00964,チオプリンS-メチルトランスフェラーゼ欠損,,,"Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine.",先天性代謝異常症,,TPMT [HSA:7172] [KO:K00569],,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: C536512
 OMIM: 610460","PMID:20354201
 著者        Ford LT, Berg JD
 タイトル      Thiopurine S-methyltransferase (TPMT) assessment prior to starting thiopurine drug treatment; a pharmacogenomic test whose time has come.
 雑誌        J Clin Pathol 63:288-95 (2010)
 DOI:10.1136/jcp.2009.069252","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00964"">H00964</a>",チオプリンS-メチルトランスフェラーゼ欠損,"Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine.",,"TPMT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7172"">7172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00569"">K00569</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536512"">C536512</a>
 OMIM: <a href=""https://www.omim.org/entry/610460"">610460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20354201"">20354201</a>
 著者        Ford LT, Berg JD
 タイトル      Thiopurine S-methyltransferase (TPMT) assessment prior to starting thiopurine drug treatment; a pharmacogenomic test whose time has come.
 雑誌        J Clin Pathol 63:288-95 (2010)
 DOI:<a href=""https://doi.org/10.1136/jcp.2009.069252"">10.1136/jcp.2009.069252</a>"
H00965,"RAPADILINO 症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:H00296]",,,"RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma.",先天奇形,,RECQL4 [HSA:9401] [KO:K10730],,,,,Disorder of DNA repair system,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: C535288
 OMIM: 266280","PMID:18716613
 著者        Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kaariainen H, Kestila M
 タイトル      The mutation spectrum in RECQL4 diseases.
 雑誌        Eur J Hum Genet 17:151-8 (2009)
 DOI:10.1038/ejhg.2008.154
 PMID:16617241
 著者        Kellermayer R
 タイトル      The versatile RECQL4.
 雑誌        Genet Med 8:213-6 (2006)
 DOI:10.1097/01.gim.0000214457.58378.1a
 PMID:17364146
 著者        Dietschy T, Shevelev I, Stagljar I
 タイトル      The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
 雑誌        Cell Mol Life Sci 64:796-802 (2007)
 DOI:10.1007/s00018-007-6468-5
 PMID:12952869
 著者        Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M
 タイトル      Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
 雑誌        Hum Mol Genet 12:2837-44 (2003)
 DOI:10.1093/hmg/ddg306","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00965"">H00965</a>","RAPADILINO 症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00296"">H00296</a>]","RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma.",,"RECQL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9401"">9401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10730"">K10730</a>]",,,,,Disorder of DNA repair system,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535288"">C535288</a>
 OMIM: <a href=""https://www.omim.org/entry/266280"">266280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18716613"">18716613</a>
 著者        Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kaariainen H, Kestila M
 タイトル      The mutation spectrum in RECQL4 diseases.
 雑誌        Eur J Hum Genet 17:151-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.154"">10.1038/ejhg.2008.154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16617241"">16617241</a>
 著者        Kellermayer R
 タイトル      The versatile RECQL4.
 雑誌        Genet Med 8:213-6 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.gim.0000214457.58378.1a"">10.1097/01.gim.0000214457.58378.1a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17364146"">17364146</a>
 著者        Dietschy T, Shevelev I, Stagljar I
 タイトル      The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
 雑誌        Cell Mol Life Sci 64:796-802 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00018-007-6468-5"">10.1007/s00018-007-6468-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12952869"">12952869</a>
 著者        Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M
 タイトル      Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
 雑誌        Hum Mol Genet 12:2837-44 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg306"">10.1093/hmg/ddg306</a>"
H00966,AICA-ribosiduria,,,AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective enzymes and/or their metabolites in cells or body fluids.,先天性代謝異常症,,ATIC [HSA:471] [KO:K00602],,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: C563876
 OMIM: 608688","PMID:15114530
 著者        Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF
 タイトル      AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
 雑誌        Am J Hum Genet 74:1276-81 (2004)
 DOI:10.1086/421475
 PMID:16798121
 著者        Hornik P, Vyskocilova P, Friedecky D, Adam T
 タイトル      Diagnosing AICA-ribosiduria by capillary electrophoresis.
 雑誌        J Chromatogr B Analyt Technol Biomed Life Sci 843:15-9 (2006)
 DOI:10.1016/j.jchromb.2006.05.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00966"">H00966</a>",AICA-ribosiduria,AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective enzymes and/or their metabolites in cells or body fluids.,,"ATIC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:471"">471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00602"">K00602</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563876"">C563876</a>
 OMIM: <a href=""https://www.omim.org/entry/608688"">608688</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15114530"">15114530</a>
 著者        Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF
 タイトル      AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
 雑誌        Am J Hum Genet 74:1276-81 (2004)
 DOI:<a href=""https://doi.org/10.1086/421475"">10.1086/421475</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16798121"">16798121</a>
 著者        Hornik P, Vyskocilova P, Friedecky D, Adam T
 タイトル      Diagnosing AICA-ribosiduria by capillary electrophoresis.
 雑誌        J Chromatogr B Analyt Technol Biomed Life Sci 843:15-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jchromb.2006.05.020"">10.1016/j.jchromb.2006.05.020</a>"
H00967,アディポネクチン欠損,,,"Adiponectin is a major adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency related to several obesity related malignancies including colorectal cancer.",先天性代謝異常症,,ADIPOQ [HSA:9370] [KO:K07296],,,,,,"MeSH: C567258
 OMIM: 612556","PMID:22198319
 著者        Saxena A, Chumanevich A, Fletcher E, Larsen B, Lattwein K, Kaur K, Fayad R
 タイトル      Adiponectin deficiency: role in chronic inflammation induced colon cancer.
 雑誌        Biochim Biophys Acta 1822:527-36 (2012)
 DOI:10.1016/j.bbadis.2011.12.006
 PMID:12802337
 著者        Yamauchi T, Kamon J, Ito Y, Tsuchida A, Yokomizo T, Kita S, Sugiyama T, Miyagishi M, Hara K, Tsunoda M, Murakami K, Ohteki T, Uchida S, Takekawa S, Waki H, Tsuno NH, Shibata Y, Terauchi Y, Froguel P, Tobe K, Koyasu S, Taira K, Kitamura T, Shimizu T, Nagai R, Kadowaki T
 タイトル      Cloning of adiponectin receptors that mediate antidiabetic metabolic effects.
 雑誌        Nature 423:762-9 (2003)
 DOI:10.1038/nature01705
 PMID:12032136
 著者        Kubota N, Terauchi Y, Yamauchi T, Kubota T, Moroi M, Matsui J, Eto K, Yamashita T, Kamon J, Satoh H, Yano W, Froguel P, Nagai R, Kimura S, Kadowaki T, Noda T
 タイトル      Disruption of adiponectin causes insulin resistance and neointimal formation.
 雑誌        J Biol Chem 277:25863-6 (2002)
 DOI:10.1074/jbc.C200251200
 PMID:12431986
 著者        Yamauchi T, Kamon J, Waki H, Imai Y, Shimozawa N, Hioki K, Uchida S, Ito Y, Takakuwa K, Matsui J, Takata M, Eto K, Terauchi Y, Komeda K, Tsunoda M, Murakami K, Ohnishi Y, Naitoh T, Yamamura K, Ueyama Y, Froguel P, Kimura S, Nagai R, Kadowaki T
 タイトル      Globular adiponectin protected ob/ob mice from diabetes and ApoE-deficient mice from atherosclerosis.
 雑誌        J Biol Chem 278:2461-8 (2003)
 DOI:10.1074/jbc.M209033200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00967"">H00967</a>",アディポネクチン欠損,"Adiponectin is a major adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency related to several obesity related malignancies including colorectal cancer.",,"ADIPOQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9370"">9370</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07296"">K07296</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567258"">C567258</a>
 OMIM: <a href=""https://www.omim.org/entry/612556"">612556</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22198319"">22198319</a>
 著者        Saxena A, Chumanevich A, Fletcher E, Larsen B, Lattwein K, Kaur K, Fayad R
 タイトル      Adiponectin deficiency: role in chronic inflammation induced colon cancer.
 雑誌        Biochim Biophys Acta 1822:527-36 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2011.12.006"">10.1016/j.bbadis.2011.12.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12802337"">12802337</a>
 著者        Yamauchi T, Kamon J, Ito Y, Tsuchida A, Yokomizo T, Kita S, Sugiyama T, Miyagishi M, Hara K, Tsunoda M, Murakami K, Ohteki T, Uchida S, Takekawa S, Waki H, Tsuno NH, Shibata Y, Terauchi Y, Froguel P, Tobe K, Koyasu S, Taira K, Kitamura T, Shimizu T, Nagai R, Kadowaki T
 タイトル      Cloning of adiponectin receptors that mediate antidiabetic metabolic effects.
 雑誌        Nature 423:762-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/nature01705"">10.1038/nature01705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12032136"">12032136</a>
 著者        Kubota N, Terauchi Y, Yamauchi T, Kubota T, Moroi M, Matsui J, Eto K, Yamashita T, Kamon J, Satoh H, Yano W, Froguel P, Nagai R, Kimura S, Kadowaki T, Noda T
 タイトル      Disruption of adiponectin causes insulin resistance and neointimal formation.
 雑誌        J Biol Chem 277:25863-6 (2002)
 DOI:<a href=""https://doi.org/10.1074/jbc.C200251200"">10.1074/jbc.C200251200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12431986"">12431986</a>
 著者        Yamauchi T, Kamon J, Waki H, Imai Y, Shimozawa N, Hioki K, Uchida S, Ito Y, Takakuwa K, Matsui J, Takata M, Eto K, Terauchi Y, Komeda K, Tsunoda M, Murakami K, Ohnishi Y, Naitoh T, Yamamura K, Ueyama Y, Froguel P, Kimura S, Nagai R, Kadowaki T
 タイトル      Globular adiponectin protected ob/ob mice from diabetes and ApoE-deficient mice from atherosclerosis.
 雑誌        J Biol Chem 278:2461-8 (2003)
 DOI:<a href=""https://doi.org/10.1074/jbc.M209033200"">10.1074/jbc.M209033200</a>"
H00968,Raine 症候群,,,"Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period is due to respiratory failure. Radiographic studies have shown generalized increase in the density of all bones and the basal structures of the skull, which leads to the characteristic facial features including microcephaly, proptosis, hypoplastic nose and midface, small jaw, and cleft palate.",先天奇形,,FAM20C [HSA:56975] [KO:K21958],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.2
 MeSH: C535282
 OMIM: 259775","PMID:17924334
 著者        Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH
 タイトル      Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
 雑誌        Am J Hum Genet 81:906-12 (2007)
 DOI:10.1086/522240
 PMID:10482879
 著者        Shalev SA, Shalev E, Reich D, Borochowitz ZU
 タイトル      Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.
 雑誌        Am J Med Genet 86:274-7 (1999)
 DOI:10.1002/(SICI)1096-8628(19990917)86:3<274::AID-AJMG15>3.0.CO;2-R
 PMID:1642277
 著者        Kan AE, Kozlowski K
 タイトル      New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).
 雑誌        Am J Med Genet 43:860-4 (1992)
 DOI:10.1002/ajmg.1320430522","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00968"">H00968</a>",Raine 症候群,"Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period is due to respiratory failure. Radiographic studies have shown generalized increase in the density of all bones and the basal structures of the skull, which leads to the characteristic facial features including microcephaly, proptosis, hypoplastic nose and midface, small jaw, and cleft palate.",,"FAM20C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56975"">56975</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21958"">K21958</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q78.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535282"">C535282</a>
 OMIM: <a href=""https://www.omim.org/entry/259775"">259775</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924334"">17924334</a>
 著者        Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH
 タイトル      Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
 雑誌        Am J Hum Genet 81:906-12 (2007)
 DOI:<a href=""https://doi.org/10.1086/522240"">10.1086/522240</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10482879"">10482879</a>
 著者        Shalev SA, Shalev E, Reich D, Borochowitz ZU
 タイトル      Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.
 雑誌        Am J Med Genet 86:274-7 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19990917)86:"">10.1002/(SICI)1096-8628(19990917)86:</a><a href=""https://doi.org/3<274:"">3<274:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG15>3.0.CO;2-R"">AID-AJMG15>3.0.CO;2-R</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1642277"">1642277</a>
 著者        Kan AE, Kozlowski K
 タイトル      New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).
 雑誌        Am J Med Genet 43:860-4 (1992)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320430522"">10.1002/ajmg.1320430522</a>"
H00969,"Skeletal defects, genital hypoplasia, and mental retardation",,,"This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.",先天奇形,,ZBTB16 [HSA:7704] [KO:K10055],,,,,,"ICD-11: LD24.Y
 MeSH: C567306
 OMIM: 612447","PMID:18611983
 著者        Fischer S, Kohlhase J, Bohm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D
 タイトル      Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.
 雑誌        J Med Genet 45:731-7 (2008)
 DOI:10.1136/jmg.2008.059451","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00969"">H00969</a>","Skeletal defects, genital hypoplasia, and mental retardation","This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.",,"ZBTB16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7704"">7704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10055"">K10055</a>]",,,,,,"ICD-11: LD24.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567306"">C567306</a>
 OMIM: <a href=""https://www.omim.org/entry/612447"">612447</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18611983"">18611983</a>
 著者        Fischer S, Kohlhase J, Bohm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D
 タイトル      Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.
 雑誌        J Med Genet 45:731-7 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.059451"">10.1136/jmg.2008.059451</a>"
H00970,若年性原発性側索硬化症,,,"Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral sclerosis  is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2.",神経変性疾患,,ALS2 [HSA:57679] [KO:K04575],,,,,,"ICD-11: 8B60.4
 ICD-10: G12.2
 MeSH: C536416
 OMIM: 606353","PMID:16670179
 著者        Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT
 タイトル      The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
 雑誌        Brain 129:1710-9 (2006)
 DOI:10.1093/brain/awl104
 PMID:17566607
 著者        Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE
 タイトル      Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
 雑誌        Neurochem Int 51:74-84 (2007)
 DOI:10.1016/j.neuint.2007.04.010
 PMID:2812336
 著者        Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M
 タイトル      Primary lateral sclerosis in a child.
 雑誌        Neurology 39:1530-2 (1989)
 DOI:10.1212/WNL.39.11.1530
 PMID:8719747
 著者        Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T
 タイトル      Familial childhood primary lateral sclerosis with associated gaze paresis.
 雑誌        Neuropediatrics 26:313-9 (1995)
 DOI:10.1055/s-2007-979781","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00970"">H00970</a>",若年性原発性側索硬化症,"Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral sclerosis  is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2.",,"ALS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57679"">57679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04575"">K04575</a>]",,,,,,"ICD-11: 8B60.4
 ICD-10: G12.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536416"">C536416</a>
 OMIM: <a href=""https://www.omim.org/entry/606353"">606353</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16670179"">16670179</a>
 著者        Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT
 タイトル      The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
 雑誌        Brain 129:1710-9 (2006)
 DOI:<a href=""https://doi.org/10.1093/brain/awl104"">10.1093/brain/awl104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17566607"">17566607</a>
 著者        Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE
 タイトル      Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
 雑誌        Neurochem Int 51:74-84 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.neuint.2007.04.010"">10.1016/j.neuint.2007.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2812336"">2812336</a>
 著者        Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M
 タイトル      Primary lateral sclerosis in a child.
 雑誌        Neurology 39:1530-2 (1989)
 DOI:<a href=""https://doi.org/10.1212/WNL.39.11.1530"">10.1212/WNL.39.11.1530</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8719747"">8719747</a>
 著者        Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T
 タイトル      Familial childhood primary lateral sclerosis with associated gaze paresis.
 雑誌        Neuropediatrics 26:313-9 (1995)
 DOI:<a href=""https://doi.org/10.1055/s-2007-979781"">10.1055/s-2007-979781</a>"
H00971,"全色盲;
 杆体１色覚",,,"Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual aquity, photophobia, nystagmus, difficulty in color discrimination, and no recordable cone function in electroretinography with normal rod functions. The condition is caused by genetic defects affecting crucial components of the cone photoreceptor signaling.",神経系疾患,,"(ACHM2) CNGA3 [HSA:1261] [KO:K04950]
 (ACHM3) CNGB3 [HSA:54714] [KO:K04953]
 (ACHM4) GNAT2 [HSA:2780] [KO:K04631]
 (ACHM5) PDE6C [HSA:5146] [KO:K13757]
 (ACHM6) PDE6H [HSA:5149] [KO:K13760]
 (ACHM7) ATF6 [HSA:22926] [KO:K09054]",,,,,A form of achromatopsia previously designated ACHM1 was later found to be the same as ACHM3.,"ICD-11: 9D44 9B70
 ICD-10: H53.5
 MeSH: D003117
 OMIM: 216900 262300 613856 613093 610024 616517","PMID:19927164
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:10.1038/eye.2009.251
 PMID:9662398 (ACHM2)
 著者        Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B
 タイトル      Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
 雑誌        Nat Genet 19:257-9 (1998)
 DOI:10.1038/935
 PMID:20454696 (ACHM2_3)
 著者        Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R
 タイトル      Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
 雑誌        Mol Vis 16:774-81 (2010)
 PMID:12205108 (ACHM4)
 著者        Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER
 タイトル      Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
 雑誌        J Med Genet 39:656-60 (2002)
 DOI:10.1136/jmg.39.9.656
 PMID:19887631 (ACHM5)
 著者        Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B
 タイトル      A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
 雑誌        Proc Natl Acad Sci U S A 106:19581-6 (2009)
 DOI:10.1073/pnas.0907720106
 PMID:22901948 (ACHM6)
 著者        Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B
 タイトル      A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
 雑誌        Am J Hum Genet 91:527-32 (2012)
 DOI:10.1016/j.ajhg.2012.07.006
 PMID:26063662 (ACHM7)
 著者        Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM
 タイトル      Mutation of ATF6 causes autosomal recessive achromatopsia.
 雑誌        Hum Genet 134:941-50 (2015)
 DOI:10.1007/s00439-015-1571-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00971"">H00971</a>","全色盲;
 杆体１色覚","Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual aquity, photophobia, nystagmus, difficulty in color discrimination, and no recordable cone function in electroretinography with normal rod functions. The condition is caused by genetic defects affecting crucial components of the cone photoreceptor signaling.",,"(ACHM2) CNGA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1261"">1261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04950"">K04950</a>]
 (ACHM3) CNGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54714"">54714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04953"">K04953</a>]
 (ACHM4) GNAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2780"">2780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04631"">K04631</a>]
 (ACHM5) PDE6C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5146"">5146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13757"">K13757</a>]
 (ACHM6) PDE6H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5149"">5149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13760"">K13760</a>]
 (ACHM7) ATF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22926"">22926</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09054"">K09054</a>]",,,,,A form of achromatopsia previously designated ACHM1 was later found to be the same as ACHM3.,"ICD-11: 9D44 9B70
 ICD-10: H53.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003117"">D003117</a>
 OMIM: <a href=""https://www.omim.org/entry/216900"">216900</a> <a href=""https://www.omim.org/entry/262300"">262300</a> <a href=""https://www.omim.org/entry/613856"">613856</a> <a href=""https://www.omim.org/entry/613093"">613093</a> <a href=""https://www.omim.org/entry/610024"">610024</a> <a href=""https://www.omim.org/entry/616517"">616517</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19927164"">19927164</a>
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:<a href=""https://doi.org/10.1038/eye.2009.251"">10.1038/eye.2009.251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9662398"">9662398</a> (ACHM2)
 著者        Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B
 タイトル      Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
 雑誌        Nat Genet 19:257-9 (1998)
 DOI:<a href=""https://doi.org/10.1038/935"">10.1038/935</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20454696"">20454696</a> (ACHM2_3)
 著者        Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R
 タイトル      Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
 雑誌        Mol Vis 16:774-81 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12205108"">12205108</a> (ACHM4)
 著者        Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER
 タイトル      Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
 雑誌        J Med Genet 39:656-60 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.9.656"">10.1136/jmg.39.9.656</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19887631"">19887631</a> (ACHM5)
 著者        Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B
 タイトル      A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
 雑誌        Proc Natl Acad Sci U S A 106:19581-6 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0907720106"">10.1073/pnas.0907720106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22901948"">22901948</a> (ACHM6)
 著者        Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B
 タイトル      A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
 雑誌        Am J Hum Genet 91:527-32 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.006"">10.1016/j.ajhg.2012.07.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26063662"">26063662</a> (ACHM7)
 著者        Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM
 タイトル      Mutation of ATF6 causes autosomal recessive achromatopsia.
 雑誌        Hum Genet 134:941-50 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00439-015-1571-4"">10.1007/s00439-015-1571-4</a>"
H00972,内分泌系-脳-骨異形成症候群,,,"Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease.",先天奇形,,ICK [HSA:22858] [KO:K08828],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 612651","PMID:19185282
 著者        Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA
 タイトル      A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
 雑誌        Am J Hum Genet 84:134-47 (2009)
 DOI:10.1016/j.ajhg.2008.12.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00972"">H00972</a>",内分泌系-脳-骨異形成症候群,"Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease.",,"ICK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22858"">22858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08828"">K08828</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/612651"">612651</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185282"">19185282</a>
 著者        Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA
 タイトル      A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
 雑誌        Am J Hum Genet 84:134-47 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.017"">10.1016/j.ajhg.2008.12.017</a>"
H00973,遅視症,,,"Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual transduction.",神経系疾患,,"RGS9 [HSA:8787] [KO:K13765]
 RGS9BP [HSA:388531] [KO:K25405]",,,,,,"ICD-11: 9D7Y
 ICD-10: H53.8
 MeSH: C564243
 OMIM: 608415","PMID:17826834
 著者        Hartong DT, Pott JW, Kooijman AC
 タイトル      Six patients with bradyopsia (slow vision): clinical features and course of the disease.
 雑誌        Ophthalmology 114:2323-31 (2007)
 DOI:10.1016/j.ophtha.2007.04.057
 PMID:19818506
 著者        Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
 タイトル      Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
 雑誌        Ophthalmology 117:120-127.e1 (2010)
 DOI:10.1016/j.ophtha.2009.06.011
 PMID:14702087
 著者        Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
 タイトル      Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
 雑誌        Nature 427:75-8 (2004)
 DOI:10.1038/nature02170","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00973"">H00973</a>",遅視症,"Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding RGS9 and R9AP that have a critical role in the recovery phase of visual transduction.",,"RGS9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8787"">8787</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13765"">K13765</a>]
 RGS9BP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388531"">388531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25405"">K25405</a>]",,,,,,"ICD-11: 9D7Y
 ICD-10: H53.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564243"">C564243</a>
 OMIM: <a href=""https://www.omim.org/entry/608415"">608415</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17826834"">17826834</a>
 著者        Hartong DT, Pott JW, Kooijman AC
 タイトル      Six patients with bradyopsia (slow vision): clinical features and course of the disease.
 雑誌        Ophthalmology 114:2323-31 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2007.04.057"">10.1016/j.ophtha.2007.04.057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19818506"">19818506</a>
 著者        Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
 タイトル      Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
 雑誌        Ophthalmology 117:120-127.e1 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2009.06.011"">10.1016/j.ophtha.2009.06.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14702087"">14702087</a>
 著者        Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
 タイトル      Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
 雑誌        Nature 427:75-8 (2004)
 DOI:<a href=""https://doi.org/10.1038/nature02170"">10.1038/nature02170</a>"
H00974,青錐体全色覚異常,,,"Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males.",神経系疾患,,"OPN1LW [HSA:5956] [KO:K04251]
 OPN1MW [HSA:2652] [KO:K04251]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D003117
 OMIM: 303700","PMID:19927164
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:10.1038/eye.2009.251
 PMID:19421413
 著者        Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
 タイトル      Blue cone monochromacy: causative mutations and associated phenotypes.
 雑誌        Mol Vis 15:876-84 (2009)
 PMID:2788922
 著者        Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.
 タイトル      Molecular genetics of human blue cone monochromacy.
 雑誌        Science 245:831-8 (1989)
 DOI:10.1126/science.2788922
 PMID:8213841 (OPN1LW OPN1MW)
 著者        Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al.
 タイトル      Genetic heterogeneity among blue-cone monochromats.
 雑誌        Am J Hum Genet 53:987-1000 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00974"">H00974</a>",青錐体全色覚異常,"Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males.",,"OPN1LW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5956"">5956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04251"">K04251</a>]
 OPN1MW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2652"">2652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04251"">K04251</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003117"">D003117</a>
 OMIM: <a href=""https://www.omim.org/entry/303700"">303700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19927164"">19927164</a>
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:<a href=""https://doi.org/10.1038/eye.2009.251"">10.1038/eye.2009.251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19421413"">19421413</a>
 著者        Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
 タイトル      Blue cone monochromacy: causative mutations and associated phenotypes.
 雑誌        Mol Vis 15:876-84 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2788922"">2788922</a>
 著者        Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.
 タイトル      Molecular genetics of human blue cone monochromacy.
 雑誌        Science 245:831-8 (1989)
 DOI:<a href=""https://doi.org/10.1126/science.2788922"">10.1126/science.2788922</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8213841"">8213841</a> (OPN1LW <a href=""https://pubmed.ncbi.nlm.nih.gov/OPN1MW)"">OPN1MW)</a>
 著者        Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al.
 タイトル      Genetic heterogeneity among blue-cone monochromats.
 雑誌        Am J Hum Genet 53:987-1000 (1993)"
H00975,"ロタウイルス腸炎;
 ロタウイルス胃腸炎",,,Rotaviral enteritis is the main diarrheal disease in infants caused by rotavirus infection. Rotaviruses are members of the Reoviridae family and contain genomes consisting of eleven segments of double-stranded RNA. Rotavirus is transmitted primarily via the fecal-oral route.,感染症,,,"Rotavirus A [GN:T40092]
 Human rotavirus B [GN:T40123]
 Rotavirus C [GN:T40094]
 NSP4 enterotoxin [VG:7011361]",,,"経口弱毒生ヒトロタウイルスワクチン [DR:D10193]
 5価経口弱毒生ロタウイルスワクチン [DR:D10211]",,"ICD-11: 1A22
 ICD-10: A08.0
 MeSH: D012400","PMID:2855916
 著者        Leung AK, Pai CH
 タイトル      Rotavirus gastroenteritis.
 雑誌        J Diarrhoeal Dis Res 6:188-207 (1988)
 PMID:22687427
 著者        Ogden KM, Johne R, Patton JT
 タイトル      Rotavirus RNA polymerases resolve into two phylogenetically distinct classes that differ in their mechanism of template recognition.
 雑誌        Virology 431:50-7 (2012)
 DOI:10.1016/j.virol.2012.05.011
 PMID:29119972
 著者        Crawford SE, Ramani S, Tate JE, Parashar UD, Svensson L, Hagbom M, Franco MA, Greenberg HB, O'Ryan M, Kang G, Desselberger U, Estes MK
 タイトル      Rotavirus infection.
 雑誌        Nat Rev Dis Primers 3:17083 (2017)
 DOI:10.1038/nrdp.2017.83","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00975"">H00975</a>","ロタウイルス腸炎;
 ロタウイルス胃腸炎",Rotaviral enteritis is the main diarrheal disease in infants caused by rotavirus infection. Rotaviruses are members of the Reoviridae family and contain genomes consisting of eleven segments of double-stranded RNA. Rotavirus is transmitted primarily via the fecal-oral route.,,,"Rotavirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40092"">T40092</a>]
 Human rotavirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40123"">T40123</a>]
 Rotavirus C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40094"">T40094</a>]
 NSP4 enterotoxin [VG:<a href=""https://www.genome.jp/dbget-bin/www_bget?vg_ja:7011361"">7011361</a>]",,,"経口弱毒生ヒトロタウイルスワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10193"">D10193</a>]
 5価経口弱毒生ロタウイルスワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10211"">D10211</a>]",,"ICD-11: 1A22
 ICD-10: A08.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012400"">D012400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2855916"">2855916</a>
 著者        Leung AK, Pai CH
 タイトル      Rotavirus gastroenteritis.
 雑誌        J Diarrhoeal Dis Res 6:188-207 (1988)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22687427"">22687427</a>
 著者        Ogden KM, Johne R, Patton JT
 タイトル      Rotavirus RNA polymerases resolve into two phylogenetically distinct classes that differ in their mechanism of template recognition.
 雑誌        Virology 431:50-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.virol.2012.05.011"">10.1016/j.virol.2012.05.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29119972"">29119972</a>
 著者        Crawford SE, Ramani S, Tate JE, Parashar UD, Svensson L, Hagbom M, Franco MA, Greenberg HB, O'Ryan M, Kang G, Desselberger U, Estes MK
 タイトル      Rotavirus infection.
 雑誌        Nat Rev Dis Primers 3:17083 (2017)
 DOI:<a href=""https://doi.org/10.1038/nrdp.2017.83"">10.1038/nrdp.2017.83</a>"
H00976,"色覚異常
 下位グループ    第一色盲
 二色型色覚
 異常三色型色覚",,,"Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deuten types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.",神経系疾患,,"(CBP) OPN1LW [HSA:5956] [KO:K04251]
 (CBD) OPN1MW [HSA:2652] [KO:K04251]
 (CBT) OPN1SW [HSA:611] [KO:K04252]",,,,,,"ICD-11: 9D44
 ICD-10: H53.5
 MeSH: D003117
 OMIM: 303700 303800 303900 190900","PMID:19927164
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:10.1038/eye.2009.251
 PMID:7511848
 著者        Tovee MJ
 タイトル      The molecular genetics and evolution of primate colour vision.
 雑誌        Trends Neurosci 17:30-7 (1994)
 DOI:10.1016/0166-2236(94)90032-9
 PMID:16377059
 著者        Bouman MA
 タイトル      The simple perfection of quantum correlation in human vision.
 雑誌        Prog Neurobiol 78:38-60 (2006)
 DOI:10.1016/j.pneurobio.2005.11.006
 PMID:12051694 (OPN1LW OPN1MW)
 著者        Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S
 タイトル      Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
 雑誌        Biochem Biophys Res Commun 294:205-9 (2002)
 DOI:10.1016/S0006-291X(02)00458-8
 PMID:1531728 (OPN1SW)
 著者        Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J
 タイトル      Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
 雑誌        Am J Hum Genet 50:498-507 (1992)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00976"">H00976</a>","色覚異常
 下位グループ    第一色盲
 二色型色覚
 異常三色型色覚","Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deuten types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.",,"(CBP) OPN1LW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5956"">5956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04251"">K04251</a>]
 (CBD) OPN1MW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2652"">2652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04251"">K04251</a>]
 (CBT) OPN1SW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:611"">611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04252"">K04252</a>]",,,,,,"ICD-11: 9D44
 ICD-10: H53.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003117"">D003117</a>
 OMIM: <a href=""https://www.omim.org/entry/303700"">303700</a> <a href=""https://www.omim.org/entry/303800"">303800</a> <a href=""https://www.omim.org/entry/303900"">303900</a> <a href=""https://www.omim.org/entry/190900"">190900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19927164"">19927164</a>
 著者        Simunovic MP
 タイトル      Colour vision deficiency.
 雑誌        Eye (Lond) 24:747-55 (2010)
 DOI:<a href=""https://doi.org/10.1038/eye.2009.251"">10.1038/eye.2009.251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7511848"">7511848</a>
 著者        Tovee MJ
 タイトル      The molecular genetics and evolution of primate colour vision.
 雑誌        Trends Neurosci 17:30-7 (1994)
 DOI:<a href=""https://doi.org/10.1016/0166-2236(94)90032-9"">10.1016/0166-2236(94)90032-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16377059"">16377059</a>
 著者        Bouman MA
 タイトル      The simple perfection of quantum correlation in human vision.
 雑誌        Prog Neurobiol 78:38-60 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.pneurobio.2005.11.006"">10.1016/j.pneurobio.2005.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12051694"">12051694</a> (OPN1LW <a href=""https://pubmed.ncbi.nlm.nih.gov/OPN1MW)"">OPN1MW)</a>
 著者        Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S
 タイトル      Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
 雑誌        Biochem Biophys Res Commun 294:205-9 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0006-291X(02)00458-8"">10.1016/S0006-291X(02)00458-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1531728"">1531728</a> (OPN1SW)
 著者        Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J
 タイトル      Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
 雑誌        Am J Hum Genet 50:498-507 (1992)"
H00977,毛髪鼻指節骨症候群,,,"Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III (TRPS3). They are characterized by sparse hair, bulbous pear-shaped nose, long and flat philtrum, thin upper lip, and protruding ears. Skeletal abnormalities that are frequently observed include epiphyses of the middle phalanges with shortened metacarpals, hip malformations, and short stature. The causative gene is TRPS1 that was shown to be a regulator of the Wnt signaling pathway in mouse.",先天奇形,,"(TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040]
 (TRPS2) EXT1 [HSA:2131] [KO:K02366]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.1
 MeSH: C536820 D015826 C566033
 OMIM: 190350 150230 190351","PMID:1925732
 著者        Burgess RC
 タイトル      Trichorhinophalangeal syndrome.
 雑誌        South Med J 84:1268-70 (1991)
 DOI:10.1097/00007611-199110000-00026
 PMID:8034799
 著者        Carrington PR, Chen H, Altick JA
 タイトル      Trichorhinophalangeal syndrome, type I.
 雑誌        J Am Acad Dermatol 31:331-6 (1994)
 DOI:10.1016/S0190-9622(94)70166-0
 PMID:8993967
 著者        Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G
 タイトル      Trichorhinophalangeal syndrome type III.
 雑誌        Dermatology 193:349-52 (1996)
 DOI:10.1159/000246290
 PMID:20394624
 著者        Chen LH, Ning CC, Chao SC
 タイトル      Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.
 雑誌        Br J Dermatol 163:416-9 (2010)
 DOI:10.1111/j.1365-2133.2010.09802.x
 PMID:18544079
 著者        Tariq M, Ahmad S, Ahmad W
 タイトル      A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
 雑誌        Br J Dermatol 159:476-8 (2008)
 DOI:10.1111/j.1365-2133.2008.08658.x
 PMID:22115758
 著者        Fantauzzo KA, Christiano AM
 タイトル      Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.
 雑誌        Development 139:203-14 (2012)
 DOI:10.1242/dev.069971
 PMID:19012352
 著者        Shanske AL, Patel A, Saukam S, Levy B, Ludecke HJ
 タイトル      Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
 雑誌        Am J Med Genet A 146A:3211-6 (2008)
 DOI:10.1002/ajmg.a.32615","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00977"">H00977</a>",毛髪鼻指節骨症候群,"Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III (TRPS3). They are characterized by sparse hair, bulbous pear-shaped nose, long and flat philtrum, thin upper lip, and protruding ears. Skeletal abnormalities that are frequently observed include epiphyses of the middle phalanges with shortened metacarpals, hip malformations, and short stature. The causative gene is TRPS1 that was shown to be a regulator of the Wnt signaling pathway in mouse.",,"(TRPS1_2_3) TRPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7227"">7227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22040"">K22040</a>]
 (TRPS2) EXT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2131"">2131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02366"">K02366</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536820"">C536820</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015826"">D015826</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566033"">C566033</a>
 OMIM: <a href=""https://www.omim.org/entry/190350"">190350</a> <a href=""https://www.omim.org/entry/150230"">150230</a> <a href=""https://www.omim.org/entry/190351"">190351</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1925732"">1925732</a>
 著者        Burgess RC
 タイトル      Trichorhinophalangeal syndrome.
 雑誌        South Med J 84:1268-70 (1991)
 DOI:<a href=""https://doi.org/10.1097/00007611-199110000-00026"">10.1097/00007611-199110000-00026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8034799"">8034799</a>
 著者        Carrington PR, Chen H, Altick JA
 タイトル      Trichorhinophalangeal syndrome, type I.
 雑誌        J Am Acad Dermatol 31:331-6 (1994)
 DOI:<a href=""https://doi.org/10.1016/S0190-9622(94)70166-0"">10.1016/S0190-9622(94)70166-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8993967"">8993967</a>
 著者        Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G
 タイトル      Trichorhinophalangeal syndrome type III.
 雑誌        Dermatology 193:349-52 (1996)
 DOI:<a href=""https://doi.org/10.1159/000246290"">10.1159/000246290</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20394624"">20394624</a>
 著者        Chen LH, Ning CC, Chao SC
 タイトル      Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.
 雑誌        Br J Dermatol 163:416-9 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.09802.x"">10.1111/j.1365-2133.2010.09802.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18544079"">18544079</a>
 著者        Tariq M, Ahmad S, Ahmad W
 タイトル      A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
 雑誌        Br J Dermatol 159:476-8 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2008.08658.x"">10.1111/j.1365-2133.2008.08658.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22115758"">22115758</a>
 著者        Fantauzzo KA, Christiano AM
 タイトル      Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.
 雑誌        Development 139:203-14 (2012)
 DOI:<a href=""https://doi.org/10.1242/dev.069971"">10.1242/dev.069971</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19012352"">19012352</a>
 著者        Shanske AL, Patel A, Saukam S, Levy B, Ludecke HJ
 タイトル      Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
 雑誌        Am J Med Genet A 146A:3211-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32615"">10.1002/ajmg.a.32615</a>"
H00978,"血小板減少症
 下位グループ    骨髄性腫瘍を伴う家族性血小板減少症 (FPDMM)
 血小板減少症、貧血および骨髄線維症 (THAMY)
 βサラセミアを伴うX連鎖血小板減少症 (XLTT)
 先天性赤血球形成異常性貧血を伴う（または伴わない）X連鎖血小板減少症 (XLTDA)",,,"Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are relatively rare causes of thrombocytopenia, but some genes underlying these disorders have been elucidated. Some inherited syndromes predispose to the development of bone marrow failure or leukemia. For example, familial platelet disorder with associated myeloid malignancy (FPDMM) is characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.",血液疾患,,"(THC1) WAS [HSA:7454] [KO:K05747]
 (THC2) ANKRD26 [HSA:22852] [KO:K25138]
 (THC3) FYB1 [HSA:2533] [KO:K17698]
 (THC4) CYCS [HSA:54205] [KO:K08738]
 (THC5) ETV6 [HSA:2120] [KO:K03211]
 (THC6) SRC [HSA:6714] [KO:K05704]
 (THC7) IKZF5 [HSA:64376] [KO:K09220]
 (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182]
 (THAMY) MPIG6B [HSA:80739] [KO:K25640]
 (FPDMM) RUNX1 [HSA:861] [KO:K08367]",,,,"ルストロンボパグ [DR:D10476]
 人血小板濃厚液 [DR:D06498]",,"ICD-11: 3B64
 ICD-10: D69.4
 OMIM: 313900 188000 273900 612004 616216 314050 300367 616937 619130 617441 601399","PMID:21606161
 著者        Liew E, Owen C
 タイトル      Familial myelodysplastic syndromes: a review of the literature.
 雑誌        Haematologica 96:1536-42 (2011)
 DOI:10.3324/haematol.2011.043422
 PMID:7795648 (WAS)
 著者        Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al.
 タイトル      X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
 雑誌        Nat Genet 9:414-7 (1995)
 DOI:10.1038/ng0495-414
 PMID:21211618 (ANKRD26)
 著者        Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL
 タイトル      Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
 雑誌        Am J Hum Genet 88:115-20 (2011)
 DOI:10.1016/j.ajhg.2010.12.006
 PMID:25516138 (FYB1)
 著者        Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE
 タイトル      Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
 雑誌        BMC Med Genet 15:135 (2014)
 DOI:10.1186/s12881-014-0135-0
 PMID:18345000 (CYCS)
 著者        Morison IM, Cramer Borde EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, Weeks RJ, Lo A, Davies SM, Wilbanks SM, Fagerlund RD, Ludgate MW, da Silva Tatley FM, Coker MS, Bockett NA, Hughes G, Pippig DA, Smith MP, Capron C, Ledgerwood EC
 タイトル      A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
 雑誌        Nat Genet 40:387-9 (2008)
 DOI:10.1038/ng.103
 PMID:25807284 (ETV6)
 著者        Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J
 タイトル      Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
 雑誌        Nat Genet 47:535-538 (2015)
 DOI:10.1038/ng.3253
 PMID:26936507 (SRC)
 著者        Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH
 タイトル      A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
 雑誌        Sci Transl Med 8:328ra30 (2016)
 DOI:10.1126/scitranslmed.aad7666
 PMID:31217188 (IKZF5)
 著者        Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA, Frontini M, Freson K, Turro E
 タイトル      Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
 雑誌        Blood 134:2070-2081 (2019)
 DOI:10.1182/blood.2019000782
 PMID:12200364 (GATA1, XLTT)
 著者        Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH
 タイトル      X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.
 雑誌        Blood 100:2040-5 (2002)
 DOI:10.1182/blood-2002-02-0387
 PMID:10700180 (GATA1, XLTDA)
 著者        Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ
 タイトル      Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.
 雑誌        Nat Genet 24:266-70 (2000)
 DOI:10.1038/73480
 PMID:23112346 (MPIG6B)
 著者        Mazharian A, Wang YJ, Mori J, Bem D, Finney B, Heising S, Gissen P, White JG, Berndt MC, Gardiner EE, Nieswandt B, Douglas MR, Campbell RD, Watson SP, Senis YA
 タイトル      Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function.
 雑誌        Sci Signal 5:ra78 (2012)
 DOI:10.1126/scisignal.2002936
 PMID:10508512 (RUNX1)
 著者        Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG
 タイトル      Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
 雑誌        Nat Genet 23:166-75 (1999)
 DOI:10.1038/13793","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00978"">H00978</a>","血小板減少症
 下位グループ    骨髄性腫瘍を伴う家族性血小板減少症 (FPDMM)
 血小板減少症、貧血および骨髄線維症 (THAMY)
 βサラセミアを伴うX連鎖血小板減少症 (XLTT)
 先天性赤血球形成異常性貧血を伴う（または伴わない）X連鎖血小板減少症 (XLTDA)","Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are relatively rare causes of thrombocytopenia, but some genes underlying these disorders have been elucidated. Some inherited syndromes predispose to the development of bone marrow failure or leukemia. For example, familial platelet disorder with associated myeloid malignancy (FPDMM) is characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.",,"(THC1) WAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7454"">7454</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05747"">K05747</a>]
 (THC2) ANKRD26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22852"">22852</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25138"">K25138</a>]
 (THC3) FYB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2533"">2533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17698"">K17698</a>]
 (THC4) CYCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54205"">54205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08738"">K08738</a>]
 (THC5) ETV6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2120"">2120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03211"">K03211</a>]
 (THC6) SRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6714"">6714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05704"">K05704</a>]
 (THC7) IKZF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64376"">64376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09220"">K09220</a>]
 (XLTT/XLTDA) GATA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2623"">2623</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09182"">K09182</a>]
 (THAMY) MPIG6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80739"">80739</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25640"">K25640</a>]
 (FPDMM) RUNX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]",,,,"ルストロンボパグ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10476"">D10476</a>]
 人血小板濃厚液 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06498"">D06498</a>]",,"ICD-11: 3B64
 ICD-10: D69.4
 OMIM: <a href=""https://www.omim.org/entry/313900"">313900</a> <a href=""https://www.omim.org/entry/188000"">188000</a> <a href=""https://www.omim.org/entry/273900"">273900</a> <a href=""https://www.omim.org/entry/612004"">612004</a> <a href=""https://www.omim.org/entry/616216"">616216</a> <a href=""https://www.omim.org/entry/314050"">314050</a> <a href=""https://www.omim.org/entry/300367"">300367</a> <a href=""https://www.omim.org/entry/616937"">616937</a> <a href=""https://www.omim.org/entry/619130"">619130</a> <a href=""https://www.omim.org/entry/617441"">617441</a> <a href=""https://www.omim.org/entry/601399"">601399</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21606161"">21606161</a>
 著者        Liew E, Owen C
 タイトル      Familial myelodysplastic syndromes: a review of the literature.
 雑誌        Haematologica 96:1536-42 (2011)
 DOI:<a href=""https://doi.org/10.3324/haematol.2011.043422"">10.3324/haematol.2011.043422</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7795648"">7795648</a> (WAS)
 著者        Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al.
 タイトル      X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
 雑誌        Nat Genet 9:414-7 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0495-414"">10.1038/ng0495-414</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21211618"">21211618</a> (ANKRD26)
 著者        Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL
 タイトル      Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
 雑誌        Am J Hum Genet 88:115-20 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.006"">10.1016/j.ajhg.2010.12.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25516138"">25516138</a> (FYB1)
 著者        Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE
 タイトル      Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
 雑誌        BMC Med Genet 15:135 (2014)
 DOI:<a href=""https://doi.org/10.1186/s12881-014-0135-0"">10.1186/s12881-014-0135-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18345000"">18345000</a> (CYCS)
 著者        Morison IM, Cramer Borde EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, Weeks RJ, Lo A, Davies SM, Wilbanks SM, Fagerlund RD, Ludgate MW, da Silva Tatley FM, Coker MS, Bockett NA, Hughes G, Pippig DA, Smith MP, Capron C, Ledgerwood EC
 タイトル      A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
 雑誌        Nat Genet 40:387-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.103"">10.1038/ng.103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25807284"">25807284</a> (ETV6)
 著者        Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J
 タイトル      Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
 雑誌        Nat Genet 47:535-538 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3253"">10.1038/ng.3253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26936507"">26936507</a> (SRC)
 著者        Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH
 タイトル      A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
 雑誌        Sci Transl Med 8:328ra30 (2016)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aad7666"">10.1126/scitranslmed.aad7666</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31217188"">31217188</a> (IKZF5)
 著者        Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA, Frontini M, Freson K, Turro E
 タイトル      Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
 雑誌        Blood 134:2070-2081 (2019)
 DOI:<a href=""https://doi.org/10.1182/blood.2019000782"">10.1182/blood.2019000782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12200364"">12200364</a> (GATA1, <a href=""https://pubmed.ncbi.nlm.nih.gov/XLTT)"">XLTT)</a>
 著者        Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH
 タイトル      X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.
 雑誌        Blood 100:2040-5 (2002)
 DOI:<a href=""https://doi.org/10.1182/blood-2002-02-0387"">10.1182/blood-2002-02-0387</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10700180"">10700180</a> (GATA1, <a href=""https://pubmed.ncbi.nlm.nih.gov/XLTDA)"">XLTDA)</a>
 著者        Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ
 タイトル      Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.
 雑誌        Nat Genet 24:266-70 (2000)
 DOI:<a href=""https://doi.org/10.1038/73480"">10.1038/73480</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23112346"">23112346</a> (MPIG6B)
 著者        Mazharian A, Wang YJ, Mori J, Bem D, Finney B, Heising S, Gissen P, White JG, Berndt MC, Gardiner EE, Nieswandt B, Douglas MR, Campbell RD, Watson SP, Senis YA
 タイトル      Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function.
 雑誌        Sci Signal 5:ra78 (2012)
 DOI:<a href=""https://doi.org/10.1126/scisignal.2002936"">10.1126/scisignal.2002936</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10508512"">10508512</a> (RUNX1)
 著者        Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG
 タイトル      Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
 雑誌        Nat Genet 23:166-75 (1999)
 DOI:<a href=""https://doi.org/10.1038/13793"">10.1038/13793</a>"
H00979,"尾退行症候群;
 前方仙骨部髄膜瘤",,,"Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well as anorectal and genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal mesoderm and are usually sporadic.",先天奇形,,VANGL1 [HSA:81839] [KO:K04510],,Maternal diabetes,,,"Spina bifida, a neural tube defect, is described in H00262.","ICD-11: LD2F.1
 ICD-10: Q76.0
 MeSH: D004480
 OMIM: 600145","PMID:33158301
 著者        Kylat RI, Bader M
 タイトル      Caudal Regression Syndrome.
 雑誌        Children (Basel) 7:E211 (2020)
 DOI:10.3390/children7110211
 PMID:18470923
 著者        Rougemont AL, Bouron-Dal Soglio D, Desilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC
 タイトル      Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis.
 雑誌        Am J Med Genet A 146A:1470-6 (2008)
 DOI:10.1002/ajmg.a.32081","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00979"">H00979</a>","尾退行症候群;
 前方仙骨部髄膜瘤","Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well as anorectal and genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal mesoderm and are usually sporadic.",,"VANGL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81839"">81839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04510"">K04510</a>]",,Maternal diabetes,,,"Spina bifida, a neural tube defect, is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00262."">H00262.</a>","ICD-11: LD2F.1
 ICD-10: Q76.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004480"">D004480</a>
 OMIM: <a href=""https://www.omim.org/entry/600145"">600145</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33158301"">33158301</a>
 著者        Kylat RI, Bader M
 タイトル      Caudal Regression Syndrome.
 雑誌        Children (Basel) 7:E211 (2020)
 DOI:<a href=""https://doi.org/10.3390/children7110211"">10.3390/children7110211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18470923"">18470923</a>
 著者        Rougemont AL, Bouron-Dal Soglio D, Desilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC
 タイトル      Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis.
 雑誌        Am J Med Genet A 146A:1470-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32081"">10.1002/ajmg.a.32081</a>"
H00980,Nevo 症候群,,,"Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. It is an allelic disorder of Ehlers-Danlos syndrome kyphoscoliosis type.",先天奇形,,PLOD [HSA:5351] [KO:K00473],,,,,Ehlers-Danlos syndrome kyphoscoliosis type is described in H00802.,"ICD-11: LD2C
 MeSH: C536113
 OMIM: 601451","PMID:15666309
 著者        Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B
 タイトル      Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
 雑誌        Am J Med Genet A 133A:158-64 (2005)
 DOI:10.1002/ajmg.a.30529
 PMID:8574422
 著者        Hilderink BG, Brunner HG
 タイトル      Nevo syndrome.
 雑誌        Clin Dysmorphol 4:319-23 (1995)
 DOI:10.1097/00019605-199510000-00007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00980"">H00980</a>",Nevo 症候群,"Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. It is an allelic disorder of Ehlers-Danlos syndrome kyphoscoliosis type.",,"PLOD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5351"">5351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00473"">K00473</a>]",,,,,"Ehlers-Danlos syndrome kyphoscoliosis type is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802."">H00802.</a>","ICD-11: LD2C
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536113"">C536113</a>
 OMIM: <a href=""https://www.omim.org/entry/601451"">601451</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15666309"">15666309</a>
 著者        Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B
 タイトル      Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
 雑誌        Am J Med Genet A 133A:158-64 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30529"">10.1002/ajmg.a.30529</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8574422"">8574422</a>
 著者        Hilderink BG, Brunner HG
 タイトル      Nevo syndrome.
 雑誌        Clin Dysmorphol 4:319-23 (1995)
 DOI:<a href=""https://doi.org/10.1097/00019605-199510000-00007"">10.1097/00019605-199510000-00007</a>"
H00981,"ビタミン E 欠乏による運動失調症
 上位グループ    脊髄小脳変性症 [DS:H01616]",,,Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E.,先天代謝異常症; 神経変性疾患,,TTPA [HSA:7274] [KO:K24455],,,,,Friedreich ataxia is described in H00067. [DS:H00067],"ICD-11: 5B58
 ICD-10: E56.0 G11.1
 MeSH: C535393
 OMIM: 277460","PMID:16491382
 著者        Doria-Lamba L, De Grandis E, Cristiani E, Fiocchi I, Montaldi L, Grosso P, Gellera C
 タイトル      Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency.
 雑誌        Eur J Pediatr 165:494-5 (2006)
 DOI:10.1007/s00431-006-0085-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00981"">H00981</a>","ビタミン E 欠乏による運動失調症
 上位グループ    脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]",Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E.,,"TTPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7274"">7274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24455"">K24455</a>]",,,,,"Friedreich ataxia is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00067."">H00067.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00067"">H00067</a>]","ICD-11: 5B58
 ICD-10: E56.0 G11.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535393"">C535393</a>
 OMIM: <a href=""https://www.omim.org/entry/277460"">277460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16491382"">16491382</a>
 著者        Doria-Lamba L, De Grandis E, Cristiani E, Fiocchi I, Montaldi L, Grosso P, Gellera C
 タイトル      Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency.
 雑誌        Eur J Pediatr 165:494-5 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00431-006-0085-4"">10.1007/s00431-006-0085-4</a>"
H00982,"遺伝性鉄芽球性貧血
 下位グループ    ピリドキシン抵抗性 常染色体劣性鉄芽球性貧血
 X連鎖性鉄芽球性貧血
 運動失調を伴うX連鎖性鉄芽球性貧血",,,"Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.",血液疾患,,"(SIDBA1) ALAS2 [HSA:212] [KO:K00643]
 (SIDBA2) SLC25A38 [HSA:54977] [KO:K15118]
 (SIDBA3) GLRX5 [HSA:51218] [KO:K07390]
 (SIDBA4) HSPA9 [HSA:3313] [KO:K04043]
 (SIDBA5) HSCB [HSA:150274] [KO:K04082]
 (ASAT) ABCB7 [HSA:22] [KO:K05662]",,,,,Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is described in H00898. [DS:H00898],"ICD-11: 3A72
 ICD-10: D64.0 D64.3
 OMIM: 300751 205950 616860 182170 619523 301310","PMID:20848343
 著者        Harigae H, Furuyama K
 タイトル      Hereditary sideroblastic anemia: pathophysiology and gene mutations.
 雑誌        Int J Hematol 92:425-31 (2010)
 DOI:10.1007/s12185-010-0688-4
 PMID:1570328 (ALAS2)
 著者        Cotter PD, Baumann M, Bishop DF
 タイトル      Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
 雑誌        Proc Natl Acad Sci U S A 89:4028-32 (1992)
 DOI:10.1073/pnas.89.9.4028
 PMID:19412178 (SLC25A38)
 著者        Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME
 タイトル      Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
 雑誌        Nat Genet 41:651-3 (2009)
 DOI:10.1038/ng.359
 PMID:17485548 (GLRX5)
 著者        Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A
 タイトル      The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.
 雑誌        Blood 110:1353-8 (2007)
 DOI:10.1182/blood-2007-02-072520
 PMID:26491070 (HSPA9)
 著者        Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD
 タイトル      Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
 雑誌        Blood 126:2734-8 (2015)
 DOI:10.1182/blood-2015-09-659854
 PMID:32634119 (HSCB)
 著者        Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S
 タイトル      Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
 雑誌        J Clin Invest 130:5245-5256 (2020)
 DOI:10.1172/JCI135479
 PMID:11050011 (ABCB7)
 著者        Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF
 タイトル      Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
 雑誌        Blood 96:3256-64 (2000)
 DOI:10.1182/blood.V96.9.3256","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00982"">H00982</a>","遺伝性鉄芽球性貧血
 下位グループ    ピリドキシン抵抗性 常染色体劣性鉄芽球性貧血
 X連鎖性鉄芽球性貧血
 運動失調を伴うX連鎖性鉄芽球性貧血","Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.",,"(SIDBA1) ALAS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:212"">212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00643"">K00643</a>]
 (SIDBA2) SLC25A38 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54977"">54977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15118"">K15118</a>]
 (SIDBA3) GLRX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51218"">51218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07390"">K07390</a>]
 (SIDBA4) HSPA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3313"">3313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04043"">K04043</a>]
 (SIDBA5) HSCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:150274"">150274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04082"">K04082</a>]
 (ASAT) ABCB7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22"">22</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05662"">K05662</a>]",,,,,"Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00898."">H00898.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00898"">H00898</a>]","ICD-11: 3A72
 ICD-10: D64.0 D64.3
 OMIM: <a href=""https://www.omim.org/entry/300751"">300751</a> <a href=""https://www.omim.org/entry/205950"">205950</a> <a href=""https://www.omim.org/entry/616860"">616860</a> <a href=""https://www.omim.org/entry/182170"">182170</a> <a href=""https://www.omim.org/entry/619523"">619523</a> <a href=""https://www.omim.org/entry/301310"">301310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20848343"">20848343</a>
 著者        Harigae H, Furuyama K
 タイトル      Hereditary sideroblastic anemia: pathophysiology and gene mutations.
 雑誌        Int J Hematol 92:425-31 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12185-010-0688-4"">10.1007/s12185-010-0688-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1570328"">1570328</a> (ALAS2)
 著者        Cotter PD, Baumann M, Bishop DF
 タイトル      Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
 雑誌        Proc Natl Acad Sci U S A 89:4028-32 (1992)
 DOI:<a href=""https://doi.org/10.1073/pnas.89.9.4028"">10.1073/pnas.89.9.4028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19412178"">19412178</a> (SLC25A38)
 著者        Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME
 タイトル      Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
 雑誌        Nat Genet 41:651-3 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.359"">10.1038/ng.359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17485548"">17485548</a> (GLRX5)
 著者        Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A
 タイトル      The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.
 雑誌        Blood 110:1353-8 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-02-072520"">10.1182/blood-2007-02-072520</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26491070"">26491070</a> (HSPA9)
 著者        Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD
 タイトル      Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
 雑誌        Blood 126:2734-8 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-09-659854"">10.1182/blood-2015-09-659854</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32634119"">32634119</a> (HSCB)
 著者        Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S
 タイトル      Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
 雑誌        J Clin Invest 130:5245-5256 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI135479"">10.1172/JCI135479</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11050011"">11050011</a> (ABCB7)
 著者        Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF
 タイトル      Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
 雑誌        Blood 96:3256-64 (2000)
 DOI:<a href=""https://doi.org/10.1182/blood.V96.9.3256"">10.1182/blood.V96.9.3256</a>"
H00983,先天性アルファ2プラスミンインヒビター欠損症,,,"Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor of plasminogen, and its deficiency causes a rare bleeding disorder because of increased fibrinolysis.",血液疾患,,SERPINF2 [HSA:5345] [KO:K03983],,,,,,"ICD-11: 3B50.0
 ICD-10: D68.8
 OMIM: 262850","PMID:19141165
 著者        Carpenter SL, Mathew P
 タイトル      Alpha2-antiplasmin and its deficiency: fibrinolysis out of balance.
 雑誌        Haemophilia 14:1250-4 (2008)
 DOI:10.1111/j.1365-2516.2008.01766.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00983"">H00983</a>",先天性アルファ2プラスミンインヒビター欠損症,"Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor of plasminogen, and its deficiency causes a rare bleeding disorder because of increased fibrinolysis.",,"SERPINF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5345"">5345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03983"">K03983</a>]",,,,,,"ICD-11: 3B50.0
 ICD-10: D68.8
 OMIM: <a href=""https://www.omim.org/entry/262850"">262850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141165"">19141165</a>
 著者        Carpenter SL, Mathew P
 タイトル      Alpha2-antiplasmin and its deficiency: fibrinolysis out of balance.
 雑誌        Haemophilia 14:1250-4 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01766.x"">10.1111/j.1365-2516.2008.01766.x</a>"
H00984,"露出リンパ球症候群 1型
 上位グループ    複合免疫不全症 [DS:H00093]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as Type I, Type II and Type III based on defective surface MHC expression. The mutations in the TAP subunits are one of the most common features of BLS type I. MHC I deficiency due to tapasin (TAPBP) deficiency was also discovered recently.",免疫系疾患,,"TAP1 [HSA:6890] [KO:K05653]
 TAP2 [HSA:6891] [KO:K05654]
 TAPBP [HSA:6892] [KO:K08058]",,,,,,"ICD-11: 4A01.11
 ICD-10: D81.6
 OMIM: 604571","PMID:22027563 (TAP1, TAP2)
 著者        Shrestha D, Szollosi J, Jenei A
 タイトル      Bare lymphocyte syndrome: an opportunity to discover our immune system.
 雑誌        Immunol Lett 141:147-57 (2012)
 DOI:10.1016/j.imlet.2011.10.007
 PMID:12149238 (TAPBP)
 著者        Yabe T, Kawamura S, Sato M, Kashiwase K, Tanaka H, Ishikawa Y, Asao Y, Oyama J, Tsuruta K, Tokunaga K, Tadokoro K, Juji T
 タイトル      A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
 雑誌        Blood 100:1496-8 (2002)
 DOI:10.1182/blood-2001-12-0252","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00984"">H00984</a>","露出リンパ球症候群 1型
 上位グループ    複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00093"">H00093</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as Type I, Type II and Type III based on defective surface MHC expression. The mutations in the TAP subunits are one of the most common features of BLS type I. MHC I deficiency due to tapasin (TAPBP) deficiency was also discovered recently.",,"TAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6890"">6890</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05653"">K05653</a>]
 TAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6891"">6891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05654"">K05654</a>]
 TAPBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6892"">6892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08058"">K08058</a>]",,,,,,"ICD-11: 4A01.11
 ICD-10: D81.6
 OMIM: <a href=""https://www.omim.org/entry/604571"">604571</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22027563"">22027563</a> (TAP1, <a href=""https://pubmed.ncbi.nlm.nih.gov/TAP2)"">TAP2)</a>
 著者        Shrestha D, Szollosi J, Jenei A
 タイトル      Bare lymphocyte syndrome: an opportunity to discover our immune system.
 雑誌        Immunol Lett 141:147-57 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.imlet.2011.10.007"">10.1016/j.imlet.2011.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12149238"">12149238</a> (TAPBP)
 著者        Yabe T, Kawamura S, Sato M, Kashiwase K, Tanaka H, Ishikawa Y, Asao Y, Oyama J, Tsuruta K, Tokunaga K, Tadokoro K, Juji T
 タイトル      A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
 雑誌        Blood 100:1496-8 (2002)
 DOI:<a href=""https://doi.org/10.1182/blood-2001-12-0252"">10.1182/blood-2001-12-0252</a>"
H00985,"露出リンパ球症候群 2型
 上位グループ    複合免疫不全症 [DS:H00093]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as type I, type II, and type III based on defective surface MHC expression. A feature of loss in constitutive and inducible MHC II proteins have been grouped as BLS type II. BLS type III is recognized by the loss of both MHC I and MHC II molecules.",免疫系疾患,,"CIITA [HSA:4261] [KO:K08060]
 RFXANK [HSA:8625] [KO:K08062]
 RFX5 [HSA:5993] [KO:K08061]
 RFXAP [HSA:5994] [KO:K08063]",,,,,,"ICD-11: 4A01.12
 ICD-10: D81.6
 OMIM: 209920","PMID:22027563
 著者        Shrestha D, Szollosi J, Jenei A
 タイトル      Bare lymphocyte syndrome: an opportunity to discover our immune system.
 雑誌        Immunol Lett 141:147-57 (2012)
 DOI:10.1016/j.imlet.2011.10.007
 PMID:11862382 (CIITA)
 著者        Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B
 タイトル      Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
 雑誌        Immunogenetics 53:821-9 (2002)
 DOI:10.1007/s00251-001-0395-7
 PMID:10725724 (RFXANK)
 著者        Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ
 タイトル      Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
 雑誌        J Immunol 164:3666-74 (2000)
 DOI:10.4049/jimmunol.164.7.3666
 PMID:10079298 (RFX5)
 著者        Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ
 タイトル      Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
 雑誌        Immunogenetics 49:338-45 (1999)
 DOI:10.1007/s002510050501
 PMID:9118943 (RFXAP)
 著者        Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W
 タイトル      RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
 雑誌        EMBO J 16:1045-55 (1997)
 DOI:10.1093/emboj/16.5.1045","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00985"">H00985</a>","露出リンパ球症候群 2型
 上位グループ    複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00093"">H00093</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as type I, type II, and type III based on defective surface MHC expression. A feature of loss in constitutive and inducible MHC II proteins have been grouped as BLS type II. BLS type III is recognized by the loss of both MHC I and MHC II molecules.",,"CIITA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4261"">4261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08060"">K08060</a>]
 RFXANK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8625"">8625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08062"">K08062</a>]
 RFX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5993"">5993</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08061"">K08061</a>]
 RFXAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5994"">5994</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08063"">K08063</a>]",,,,,,"ICD-11: 4A01.12
 ICD-10: D81.6
 OMIM: <a href=""https://www.omim.org/entry/209920"">209920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22027563"">22027563</a>
 著者        Shrestha D, Szollosi J, Jenei A
 タイトル      Bare lymphocyte syndrome: an opportunity to discover our immune system.
 雑誌        Immunol Lett 141:147-57 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.imlet.2011.10.007"">10.1016/j.imlet.2011.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11862382"">11862382</a> (CIITA)
 著者        Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B
 タイトル      Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
 雑誌        Immunogenetics 53:821-9 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00251-001-0395-7"">10.1007/s00251-001-0395-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10725724"">10725724</a> (RFXANK)
 著者        Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ
 タイトル      Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
 雑誌        J Immunol 164:3666-74 (2000)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.164.7.3666"">10.4049/jimmunol.164.7.3666</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10079298"">10079298</a> (RFX5)
 著者        Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ
 タイトル      Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
 雑誌        Immunogenetics 49:338-45 (1999)
 DOI:<a href=""https://doi.org/10.1007/s002510050501"">10.1007/s002510050501</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9118943"">9118943</a> (RFXAP)
 著者        Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W
 タイトル      RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
 雑誌        EMBO J 16:1045-55 (1997)
 DOI:<a href=""https://doi.org/10.1093/emboj/16.5.1045"">10.1093/emboj/16.5.1045</a>"
H00986,"多発性翼状片症候群
 下位グループ    致死型多発性翼状片症候群
 エスコバル型多発性翼状片症候群",,,"The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease.",先天奇形,,"(LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818]
 (LMPS) CHRNA1 [HSA:1134] [KO:K04803]
 (LMPS) CHRND [HSA:1144] [KO:K04816]",,,,,,"ICD-11: LD26.40
 ICD-10: Q87.0
 MeSH: C537377
 OMIM: 265000 253290","PMID:3289375
 著者        Ramer JC, Ladda RL, Demuth WW
 タイトル      Multiple pterygium syndrome. An overview.
 雑誌        Am J Dis Child 142:794-8 (1988)
 DOI:10.1001/archpedi.1988.02150070108039
 PMID:3430553
 著者        Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J
 タイトル      Multiple pterygium syndrome: evolution of the phenotype.
 雑誌        J Med Genet 24:733-49 (1987)
 DOI:10.1136/jmg.24.12.733
 PMID:22167768
 著者        Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER
 タイトル      CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
 雑誌        J Med Genet 49:21-6 (2012)
 DOI:10.1136/jmedgenet-2011-100378
 PMID:18252226
 著者        Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
 タイトル      Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
 雑誌        Am J Hum Genet 82:464-76 (2008)
 DOI:10.1016/j.ajhg.2007.11.006
 PMID:19076525
 著者        Mayhew JF, Mychaskiw G
 タイトル      Escobar syndrome: is this child prone to malignant hyperthermia?
 雑誌        Paediatr Anaesth 19:69-70 (2009)
 DOI:10.1111/j.1460-9592.2008.02856.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00986"">H00986</a>","多発性翼状片症候群
 下位グループ    致死型多発性翼状片症候群
 エスコバル型多発性翼状片症候群","The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease.",,"(LMPS, EVMPS) CHRNG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1146"">1146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04818"">K04818</a>]
 (LMPS) CHRNA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1134"">1134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04803"">K04803</a>]
 (LMPS) CHRND [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1144"">1144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04816"">K04816</a>]",,,,,,"ICD-11: LD26.40
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537377"">C537377</a>
 OMIM: <a href=""https://www.omim.org/entry/265000"">265000</a> <a href=""https://www.omim.org/entry/253290"">253290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3289375"">3289375</a>
 著者        Ramer JC, Ladda RL, Demuth WW
 タイトル      Multiple pterygium syndrome. An overview.
 雑誌        Am J Dis Child 142:794-8 (1988)
 DOI:<a href=""https://doi.org/10.1001/archpedi.1988.02150070108039"">10.1001/archpedi.1988.02150070108039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3430553"">3430553</a>
 著者        Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J
 タイトル      Multiple pterygium syndrome: evolution of the phenotype.
 雑誌        J Med Genet 24:733-49 (1987)
 DOI:<a href=""https://doi.org/10.1136/jmg.24.12.733"">10.1136/jmg.24.12.733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22167768"">22167768</a>
 著者        Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER
 タイトル      CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
 雑誌        J Med Genet 49:21-6 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100378"">10.1136/jmedgenet-2011-100378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252226"">18252226</a>
 著者        Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
 タイトル      Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
 雑誌        Am J Hum Genet 82:464-76 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.11.006"">10.1016/j.ajhg.2007.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19076525"">19076525</a>
 著者        Mayhew JF, Mychaskiw G
 タイトル      Escobar syndrome: is this child prone to malignant hyperthermia?
 雑誌        Paediatr Anaesth 19:69-70 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1460-9592.2008.02856.x"">10.1111/j.1460-9592.2008.02856.x</a>"
H00987,胎児無動変形シークエンス,,,"Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.",先天奇形,,"(FADS1) MUSK [HSA:4593] [KO:K05129]
 (FADS2) RAPSN [HSA:5913] [KO:K24924]
 (FADS3) DOK7 [HSA:285489] [KO:K24038]
 (FADS4) NUP88 [HSA:4927] [KO:K14318]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536647
 OMIM: 208150 618388 618389 618393","PMID:18252226
 著者        Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
 タイトル      Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
 雑誌        Am J Hum Genet 82:464-76 (2008)
 DOI:10.1016/j.ajhg.2007.11.006
 PMID:18179903
 著者        Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER
 タイトル      Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
 雑誌        Am J Hum Genet 82:222-7 (2008)
 DOI:10.1016/j.ajhg.2007.09.016
 PMID:19261599
 著者        Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER
 タイトル      Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
 雑誌        J Med Genet 46:338-40 (2009)
 DOI:10.1136/jmg.2008.065425
 PMID:25537362
 著者        Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ
 タイトル      Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
 雑誌        Eur J Hum Genet 23:1151-7 (2015)
 DOI:10.1038/ejhg.2014.273
 PMID:30543681
 著者        Bonnin E, Cabochette P, Filosa A, Juhlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B
 タイトル      Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
 雑誌        PLoS Genet 14:e1007845 (2018)
 DOI:10.1371/journal.pgen.1007845","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00987"">H00987</a>",胎児無動変形シークエンス,"Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.",,"(FADS1) MUSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4593"">4593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05129"">K05129</a>]
 (FADS2) RAPSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5913"">5913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24924"">K24924</a>]
 (FADS3) DOK7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285489"">285489</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24038"">K24038</a>]
 (FADS4) NUP88 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4927"">4927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14318"">K14318</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536647"">C536647</a>
 OMIM: <a href=""https://www.omim.org/entry/208150"">208150</a> <a href=""https://www.omim.org/entry/618388"">618388</a> <a href=""https://www.omim.org/entry/618389"">618389</a> <a href=""https://www.omim.org/entry/618393"">618393</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252226"">18252226</a>
 著者        Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
 タイトル      Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
 雑誌        Am J Hum Genet 82:464-76 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.11.006"">10.1016/j.ajhg.2007.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179903"">18179903</a>
 著者        Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER
 タイトル      Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
 雑誌        Am J Hum Genet 82:222-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.016"">10.1016/j.ajhg.2007.09.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19261599"">19261599</a>
 著者        Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER
 タイトル      Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
 雑誌        J Med Genet 46:338-40 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.065425"">10.1136/jmg.2008.065425</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25537362"">25537362</a>
 著者        Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ
 タイトル      Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
 雑誌        Eur J Hum Genet 23:1151-7 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.273"">10.1038/ejhg.2014.273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30543681"">30543681</a>
 著者        Bonnin E, Cabochette P, Filosa A, Juhlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B
 タイトル      Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
 雑誌        PLoS Genet 14:e1007845 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007845"">10.1371/journal.pgen.1007845</a>"
H00988,"エンテロキナーゼ欠損症;
 エンテロペプチダーゼ欠損症",,,"Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.",先天性代謝異常症,,TMPRSS15 [HSA:5651] [KO:K01316],,,,,,"ICD-11: DA96.0.Y
 ICD-10: K90.8
 MeSH: C562649
 OMIM: 226200","PMID:11719902
 著者        Holzinger A, Maier EM, Buck C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA
 タイトル      Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.
 雑誌        Am J Hum Genet 70:20-5 (2002)
 DOI:10.1086/338456","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00988"">H00988</a>","エンテロキナーゼ欠損症;
 エンテロペプチダーゼ欠損症","Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.",,"TMPRSS15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5651"">5651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01316"">K01316</a>]",,,,,,"ICD-11: DA96.0.Y
 ICD-10: K90.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562649"">C562649</a>
 OMIM: <a href=""https://www.omim.org/entry/226200"">226200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11719902"">11719902</a>
 著者        Holzinger A, Maier EM, Buck C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA
 タイトル      Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.
 雑誌        Am J Hum Genet 70:20-5 (2002)
 DOI:<a href=""https://doi.org/10.1086/338456"">10.1086/338456</a>"
H00989,"Mohr-Tranebjaerg 症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration.",神経系疾患; 先天性代謝異常症,,TIMM8A [HSA:1678] [KO:K17780],,,,,,"ICD-11: 8A02.12
 MeSH: C535808
 OMIM: 304700","PMID:18952432
 著者        Aguirre LA, Perez-Bas M, Villamar M, Lopez-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I
 タイトル      A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
 雑誌        Neuromuscul Disord 18:979-81 (2008)
 DOI:10.1016/j.nmd.2008.09.009
 PMID:11449109
 著者        Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L
 タイトル      Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
 雑誌        Otol Neurotol 22:506-11 (2001)
 DOI:10.1097/00129492-200107000-00017
 PMID:17471106
 著者        Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L
 タイトル      Otopathology in Mohr-Tranebjaerg syndrome.
 雑誌        Laryngoscope 117:1202-8 (2007)
 DOI:10.1097/MLG.0b013e3180581944
 PMID:21266802
 著者        Cacace AT, Pinheiro JM
 タイトル      The mitochondrial connection in auditory neuropathy.
 雑誌        Audiol Neurootol 16:398-413 (2011)
 DOI:10.1159/000323276","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00989"">H00989</a>","Mohr-Tranebjaerg 症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration.",,"TIMM8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1678"">1678</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17780"">K17780</a>]",,,,,,"ICD-11: 8A02.12
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535808"">C535808</a>
 OMIM: <a href=""https://www.omim.org/entry/304700"">304700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18952432"">18952432</a>
 著者        Aguirre LA, Perez-Bas M, Villamar M, Lopez-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I
 タイトル      A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
 雑誌        Neuromuscul Disord 18:979-81 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2008.09.009"">10.1016/j.nmd.2008.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11449109"">11449109</a>
 著者        Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L
 タイトル      Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
 雑誌        Otol Neurotol 22:506-11 (2001)
 DOI:<a href=""https://doi.org/10.1097/00129492-200107000-00017"">10.1097/00129492-200107000-00017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17471106"">17471106</a>
 著者        Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L
 タイトル      Otopathology in Mohr-Tranebjaerg syndrome.
 雑誌        Laryngoscope 117:1202-8 (2007)
 DOI:<a href=""https://doi.org/10.1097/MLG.0b013e3180581944"">10.1097/MLG.0b013e3180581944</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21266802"">21266802</a>
 著者        Cacace AT, Pinheiro JM
 タイトル      The mitochondrial connection in auditory neuropathy.
 雑誌        Audiol Neurootol 16:398-413 (2011)
 DOI:<a href=""https://doi.org/10.1159/000323276"">10.1159/000323276</a>"
H00990,"アーミッシュ型小頭症
 上位グループ    小頭症症候群 [DS:H02132]",,,"Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity.",先天奇形,,SLC25A19 [HSA:60386] [KO:K15108],,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: C538247
 OMIM: 607196","PMID:14598172
 著者        Palmieri F
 タイトル      The mitochondrial transporter family (SLC25): physiological and pathological implications.
 雑誌        Pflugers Arch 447:689-709 (2004)
 DOI:10.1007/s00424-003-1099-7
 PMID:12185364
 著者        Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG
 タイトル      Mutant deoxynucleotide carrier is associated with congenital microcephaly.
 雑誌        Nat Genet 32:175-9 (2002)
 DOI:10.1038/ng948","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00990"">H00990</a>","アーミッシュ型小頭症
 上位グループ    小頭症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>]","Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity.",,"SLC25A19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60386"">60386</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15108"">K15108</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538247"">C538247</a>
 OMIM: <a href=""https://www.omim.org/entry/607196"">607196</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14598172"">14598172</a>
 著者        Palmieri F
 タイトル      The mitochondrial transporter family (SLC25): physiological and pathological implications.
 雑誌        Pflugers Arch 447:689-709 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00424-003-1099-7"">10.1007/s00424-003-1099-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12185364"">12185364</a>
 著者        Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG
 タイトル      Mutant deoxynucleotide carrier is associated with congenital microcephaly.
 雑誌        Nat Genet 32:175-9 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng948"">10.1038/ng948</a>"
H00991,MOPD II,,,"Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.",先天奇形,,PCNT [HSA:5116] [KO:K16481],,,,,"MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.
 See also H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I).","ICD-11: LD20.2
 ICD-10: Q87.1
 MeSH: C565898
 OMIM: 210720","PMID:15368497
 著者        Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI
 タイトル      Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
 雑誌        Am J Med Genet A 130A:55-72 (2004)
 DOI:10.1002/ajmg.a.30203
 PMID:9800908
 著者        Majewski F, Goecke TO
 タイトル      Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
 雑誌        Am J Med Genet 80:25-31 (1998)
 DOI:10.1002/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0
 PMID:19643772
 著者        Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
 タイトル      Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
 雑誌        J Med Genet 47:797-802 (2010)
 DOI:10.1136/jmg.2009.067298
 PMID:19839044
 著者        Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G
 タイトル      Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
 雑誌        Am J Med Genet A 149A:2452-6 (2009)
 DOI:10.1002/ajmg.a.33035","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00991"">H00991</a>",MOPD II,"Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.",,"PCNT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5116"">5116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16481"">K16481</a>]",,,,,"MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00993"">H00993</a> Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I).","ICD-11: LD20.2
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565898"">C565898</a>
 OMIM: <a href=""https://www.omim.org/entry/210720"">210720</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15368497"">15368497</a>
 著者        Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI
 タイトル      Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
 雑誌        Am J Med Genet A 130A:55-72 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30203"">10.1002/ajmg.a.30203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9800908"">9800908</a>
 著者        Majewski F, Goecke TO
 タイトル      Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
 雑誌        Am J Med Genet 80:25-31 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19981102)80:"">10.1002/(SICI)1096-8628(19981102)80:</a><a href=""https://doi.org/1<25:"">1<25:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-0"">AID-AJMG5>3.0.CO;2-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19643772"">19643772</a>
 著者        Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
 タイトル      Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
 雑誌        J Med Genet 47:797-802 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.067298"">10.1136/jmg.2009.067298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19839044"">19839044</a>
 著者        Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G
 タイトル      Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
 雑誌        Am J Med Genet A 149A:2452-6 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33035"">10.1002/ajmg.a.33035</a>"
H00992,Seckel 症候群,,,"Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.",先天奇形,,"(SCKL1) ATR [HSA:545] [KO:K06640]
 (SCKL2) RBBP8 [HSA:5932] [KO:K20773]
 (SCKL4) CENPJ [HSA:55835] [KO:K11502]
 (SCKL5) CEP152 [HSA:22995] [KO:K16728]
 (SCKL6) CEP63 [HSA:80254] [KO:K16763]
 (SCKL7) NIN [HSA:51199] [KO:K16476]
 (SCKL8) DNA2 [HSA:1763] [KO:K10742]
 (SCKL9) TRAIP [HSA:10293] [KO:K11985]
 (SCKL10) NSMCE2 [HSA:286053] [KO:K22756]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: C537533 C537534
 OMIM: 210600 606744 613676 613823 614728 614851 615807 616777 617253","PMID:17921644
 著者        Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D
 タイトル      Bird-headed dwarf of Seckel.
 雑誌        J Indian Soc Pedod Prev Dent 25 Suppl:S8-9 (2007)
 PMID:3300331
 著者        Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF
 タイトル      Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
 雑誌        Am J Med Genet 27:183-8 (1987)
 DOI:10.1002/ajmg.1320270119
 PMID:12640452 (ATR)
 著者        O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA
 タイトル      A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
 雑誌        Nat Genet 33:497-501 (2003)
 DOI:10.1038/ng1129
 PMID:21998596 (RBBP8)
 著者        Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD
 タイトル      CtIP Mutations Cause Seckel and Jawad Syndromes.
 雑誌        PLoS Genet 7:e1002310 (2011)
 DOI:10.1371/journal.pgen.1002310
 PMID:20522431 (CENPJ)
 著者        Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS
 タイトル      Novel CENPJ mutation causes Seckel syndrome.
 雑誌        J Med Genet 47:411-4 (2010)
 DOI:10.1136/jmg.2009.076646
 PMID:21131973 (CEP152)
 著者        Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nurnberg P, Karaguzel A, Wollnik B
 タイトル      CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
 雑誌        Nat Genet 43:23-6 (2011)
 DOI:10.1038/ng.725
 PMID:21983783 (CEP152, CEP63)
 著者        Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F
 タイトル      A primary microcephaly protein complex forms a ring around parental centrioles.
 雑誌        Nat Genet 43:1147-53 (2011)
 DOI:10.1038/ng.971
 PMID:22933543 (NIN)
 著者        Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V
 タイトル      Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
 雑誌        J Clin Endocrinol Metab 97:E2140-51 (2012)
 DOI:10.1210/jc.2012-2150
 PMID:24389050 (DNA2)
 著者        Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
 タイトル      Genomic analysis of primordial dwarfism reveals novel disease genes.
 雑誌        Genome Res 24:291-9 (2014)
 DOI:10.1101/gr.160572.113
 PMID:26595769 (TRAIP)
 著者        Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
 タイトル      TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
 雑誌        Nat Genet 48:36-43 (2016)
 DOI:10.1038/ng.3451
 PMID:25105364 (NSMCE2)
 著者        Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R
 タイトル      Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
 雑誌        J Clin Invest 124:4028-38 (2014)
 DOI:10.1172/JCI73264","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00992"">H00992</a>",Seckel 症候群,"Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.",,"(SCKL1) ATR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:545"">545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06640"">K06640</a>]
 (SCKL2) RBBP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5932"">5932</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20773"">K20773</a>]
 (SCKL4) CENPJ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55835"">55835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11502"">K11502</a>]
 (SCKL5) CEP152 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22995"">22995</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16728"">K16728</a>]
 (SCKL6) CEP63 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80254"">80254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16763"">K16763</a>]
 (SCKL7) NIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51199"">51199</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16476"">K16476</a>]
 (SCKL8) DNA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1763"">1763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10742"">K10742</a>]
 (SCKL9) TRAIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10293"">10293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11985"">K11985</a>]
 (SCKL10) NSMCE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286053"">286053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22756"">K22756</a>]",,,,,,"ICD-11: LD24.D
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537533"">C537533</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537534"">C537534</a>
 OMIM: <a href=""https://www.omim.org/entry/210600"">210600</a> <a href=""https://www.omim.org/entry/606744"">606744</a> <a href=""https://www.omim.org/entry/613676"">613676</a> <a href=""https://www.omim.org/entry/613823"">613823</a> <a href=""https://www.omim.org/entry/614728"">614728</a> <a href=""https://www.omim.org/entry/614851"">614851</a> <a href=""https://www.omim.org/entry/615807"">615807</a> <a href=""https://www.omim.org/entry/616777"">616777</a> <a href=""https://www.omim.org/entry/617253"">617253</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17921644"">17921644</a>
 著者        Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D
 タイトル      Bird-headed dwarf of Seckel.
 雑誌        J Indian Soc Pedod Prev Dent 25 Suppl:S8-9 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3300331"">3300331</a>
 著者        Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF
 タイトル      Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
 雑誌        Am J Med Genet 27:183-8 (1987)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320270119"">10.1002/ajmg.1320270119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12640452"">12640452</a> (ATR)
 著者        O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA
 タイトル      A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
 雑誌        Nat Genet 33:497-501 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1129"">10.1038/ng1129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21998596"">21998596</a> (RBBP8)
 著者        Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD
 タイトル      CtIP Mutations Cause Seckel and Jawad Syndromes.
 雑誌        PLoS Genet 7:e1002310 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002310"">10.1371/journal.pgen.1002310</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20522431"">20522431</a> (CENPJ)
 著者        Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS
 タイトル      Novel CENPJ mutation causes Seckel syndrome.
 雑誌        J Med Genet 47:411-4 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.076646"">10.1136/jmg.2009.076646</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21131973"">21131973</a> (CEP152)
 著者        Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nurnberg P, Karaguzel A, Wollnik B
 タイトル      CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
 雑誌        Nat Genet 43:23-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.725"">10.1038/ng.725</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21983783"">21983783</a> (CEP152, <a href=""https://pubmed.ncbi.nlm.nih.gov/CEP63)"">CEP63)</a>
 著者        Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F
 タイトル      A primary microcephaly protein complex forms a ring around parental centrioles.
 雑誌        Nat Genet 43:1147-53 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.971"">10.1038/ng.971</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22933543"">22933543</a> (NIN)
 著者        Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V
 タイトル      Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
 雑誌        J Clin Endocrinol Metab 97:E2140-51 (2012)
 DOI:<a href=""https://doi.org/10.1210/jc.2012-2150"">10.1210/jc.2012-2150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24389050"">24389050</a> (DNA2)
 著者        Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
 タイトル      Genomic analysis of primordial dwarfism reveals novel disease genes.
 雑誌        Genome Res 24:291-9 (2014)
 DOI:<a href=""https://doi.org/10.1101/gr.160572.113"">10.1101/gr.160572.113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26595769"">26595769</a> (TRAIP)
 著者        Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
 タイトル      TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
 雑誌        Nat Genet 48:36-43 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3451"">10.1038/ng.3451</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25105364"">25105364</a> (NSMCE2)
 著者        Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R
 タイトル      Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
 雑誌        J Clin Invest 124:4028-38 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI73264"">10.1172/JCI73264</a>"
H00993,Taybi-Linder 症候群,,,"Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis.",先天奇形,,RNU4ATAC [HSA:100151683],,,,,"See also H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II).","ICD-11: LD20.2
 ICD-10: Q87.1
 MeSH: C537577
 OMIM: 210710","PMID:21474761
 著者        Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL
 タイトル      Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
 雑誌        Science 332:240-3 (2011)
 DOI:10.1126/science.1202205
 PMID:9800907
 著者        Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N
 タイトル      Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
 雑誌        Am J Med Genet 80:16-24 (1998)
 DOI:10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5
 PMID:21990275
 著者        Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
 タイトル      A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
 雑誌        Am J Med Genet A 155A:2885-96 (2011)
 DOI:10.1002/ajmg.a.34299
 PMID:15372530
 著者        Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V
 タイトル      Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.
 雑誌        Am J Med Genet A 130A:181-90 (2004)
 DOI:10.1002/ajmg.a.30079","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00993"">H00993</a>",Taybi-Linder 症候群,"Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis.",,"RNU4ATAC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100151683"">100151683</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00991"">H00991</a> Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II).","ICD-11: LD20.2
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537577"">C537577</a>
 OMIM: <a href=""https://www.omim.org/entry/210710"">210710</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21474761"">21474761</a>
 著者        Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL
 タイトル      Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
 雑誌        Science 332:240-3 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1202205"">10.1126/science.1202205</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9800907"">9800907</a>
 著者        Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N
 タイトル      Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
 雑誌        Am J Med Genet 80:16-24 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19981102)80:"">10.1002/(SICI)1096-8628(19981102)80:</a><a href=""https://doi.org/1<16:"">1<16:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG4>3.0.CO;2-5"">AID-AJMG4>3.0.CO;2-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21990275"">21990275</a>
 著者        Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
 タイトル      A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
 雑誌        Am J Med Genet A 155A:2885-96 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34299"">10.1002/ajmg.a.34299</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15372530"">15372530</a>
 著者        Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V
 タイトル      Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.
 雑誌        Am J Med Genet A 130A:181-90 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30079"">10.1002/ajmg.a.30079</a>"
H00994,Familial skewed X-chromosome inactivation,,,"X chromosome inactivation is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females that equalizes the effective dosage of X-linked genes between XX females and XY males. Therefore mammalian females are mosaics for two cell populations with different X chromosomes active. Skewed X inactivation is defined as a pattern where the cells show a preferential inactivation of one X chromosome. The incidence of skewing is shown to be age dependent but in general, skewing does not have any biologic consequence. However, in cases of individuals with nonlethal mutated allele, degree of skewing is predisposing to genetic diseases such as hemophilia A. The key player is the X inactivation-specific transcript (XIST), an X-linked untranslated RNA that coats the inactive X-chromosome.",その他の疾患,,XIST [HSA:7503],,,,,Hemophilia A is described in H00219.,OMIM: 300087,"PMID:19396465
 著者        Orstavik KH
 タイトル      X chromosome inactivation in clinical practice.
 雑誌        Hum Genet 126:363-73 (2009)
 DOI:10.1007/s00439-009-0670-5
 PMID:16720461
 著者        Orstavik KH
 タイトル      Skewed X inactivation in healthy individuals and in different diseases.
 雑誌        Acta Paediatr Suppl 95:24-9 (2006)
 DOI:10.1080/08035320600618783
 PMID:11110715
 著者        Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF
 タイトル      Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
 雑誌        Blood 96:4363-5 (2000)
 PMID:12572852
 著者        Lyon MF
 タイトル      X-chromosome inactivation and human genetic disease.
 雑誌        Acta Paediatr Suppl 91:107-12 (2002)
 DOI:10.1111/j.1651-2227.2002.tb03120.x
 PMID:9585586
 著者        Migeon BR, Haisley-Royster C
 タイトル      Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation.
 雑誌        Am J Hum Genet 62:1555-7; author reply 1557-8 (1998)
 DOI:10.1086/301858","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00994"">H00994</a>",Familial skewed X-chromosome inactivation,"X chromosome inactivation is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females that equalizes the effective dosage of X-linked genes between XX females and XY males. Therefore mammalian females are mosaics for two cell populations with different X chromosomes active. Skewed X inactivation is defined as a pattern where the cells show a preferential inactivation of one X chromosome. The incidence of skewing is shown to be age dependent but in general, skewing does not have any biologic consequence. However, in cases of individuals with nonlethal mutated allele, degree of skewing is predisposing to genetic diseases such as hemophilia A. The key player is the X inactivation-specific transcript (XIST), an X-linked untranslated RNA that coats the inactive X-chromosome.",,"XIST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7503"">7503</a>]",,,,,"Hemophilia A is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00219."">H00219.</a>","OMIM: <a href=""https://www.omim.org/entry/300087"">300087</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19396465"">19396465</a>
 著者        Orstavik KH
 タイトル      X chromosome inactivation in clinical practice.
 雑誌        Hum Genet 126:363-73 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00439-009-0670-5"">10.1007/s00439-009-0670-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16720461"">16720461</a>
 著者        Orstavik KH
 タイトル      Skewed X inactivation in healthy individuals and in different diseases.
 雑誌        Acta Paediatr Suppl 95:24-9 (2006)
 DOI:<a href=""https://doi.org/10.1080/08035320600618783"">10.1080/08035320600618783</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11110715"">11110715</a>
 著者        Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF
 タイトル      Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
 雑誌        Blood 96:4363-5 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12572852"">12572852</a>
 著者        Lyon MF
 タイトル      X-chromosome inactivation and human genetic disease.
 雑誌        Acta Paediatr Suppl 91:107-12 (2002)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2002.tb03120.x"">10.1111/j.1651-2227.2002.tb03120.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9585586"">9585586</a>
 著者        Migeon BR, Haisley-Royster C
 タイトル      Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation.
 雑誌        Am J Hum Genet 62:1555-7; author reply 1557-8 (1998)
 DOI:<a href=""https://doi.org/10.1086/301858"">10.1086/301858</a>"
H00995,ビタミン K 欠乏による凝固因子欠乏,,,"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors protein C, protein S, and protein Z. VKCFD leads to a bleeding tendency with a variegate clinical picture. Two subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle. VKCFD type1 is defined by defective GGCX activity, while VKCFD type 2 derives from functional deficiency of VKORC.",循環器系疾患,,"(VKCFD1) GGCX [HSA:2677] [KO:K10106]
 (VKCFD2) VKORC1 [HSA:79001] [KO:K05357]",,,,,,"ICD-11: 3B14.2
 ICD-10: D68.4
 OMIM: 277450 607473","PMID:20630065
 著者        Napolitano M, Mariani G, Lapecorella M
 タイトル      Hereditary combined deficiency of the vitamin K-dependent clotting factors.
 雑誌        Orphanet J Rare Dis 5:21 (2010)
 DOI:10.1186/1750-1172-5-21
 PMID:9845520 (GGCX)
 著者        Brenner B, Sanchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J
 タイトル      A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.
 雑誌        Blood 92:4554-9 (1998)
 PMID:14765194 (VKORC1)
 著者        Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Muller CR, Strom TM, Oldenburg J
 タイトル      Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
 雑誌        Nature 427:537-41 (2004)
 DOI:10.1038/nature02214","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00995"">H00995</a>",ビタミン K 欠乏による凝固因子欠乏,"Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors protein C, protein S, and protein Z. VKCFD leads to a bleeding tendency with a variegate clinical picture. Two subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle. VKCFD type1 is defined by defective GGCX activity, while VKCFD type 2 derives from functional deficiency of VKORC.",,"(VKCFD1) GGCX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2677"">2677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10106"">K10106</a>]
 (VKCFD2) VKORC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79001"">79001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05357"">K05357</a>]",,,,,,"ICD-11: 3B14.2
 ICD-10: D68.4
 OMIM: <a href=""https://www.omim.org/entry/277450"">277450</a> <a href=""https://www.omim.org/entry/607473"">607473</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20630065"">20630065</a>
 著者        Napolitano M, Mariani G, Lapecorella M
 タイトル      Hereditary combined deficiency of the vitamin K-dependent clotting factors.
 雑誌        Orphanet J Rare Dis 5:21 (2010)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-5-21"">10.1186/1750-1172-5-21</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9845520"">9845520</a> (GGCX)
 著者        Brenner B, Sanchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J
 タイトル      A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.
 雑誌        Blood 92:4554-9 (1998)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14765194"">14765194</a> (VKORC1)
 著者        Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Muller CR, Strom TM, Oldenburg J
 タイトル      Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
 雑誌        Nature 427:537-41 (2004)
 DOI:<a href=""https://doi.org/10.1038/nature02214"">10.1038/nature02214</a>"
H00996,アーミッシュ小児てんかん症候群,,,"Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified.",神経系疾患; 先天性代謝異常症,,ST3GAL5 [HSA:8869] [KO:K03370],,,,,,"ICD-11: 5C54.Y
 ICD-10: E77.8
 MeSH: C563799
 OMIM: 609056","PMID:15502825
 著者        Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH
 タイトル      Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
 雑誌        Nat Genet 36:1225-9 (2004)
 DOI:10.1038/ng1460","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00996"">H00996</a>",アーミッシュ小児てんかん症候群,"Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified.",,"ST3GAL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8869"">8869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03370"">K03370</a>]",,,,,,"ICD-11: 5C54.Y
 ICD-10: E77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563799"">C563799</a>
 OMIM: <a href=""https://www.omim.org/entry/609056"">609056</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15502825"">15502825</a>
 著者        Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH
 タイトル      Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
 雑誌        Nat Genet 36:1225-9 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1460"">10.1038/ng1460</a>"
H00997,CATSHL 症候群,,,"CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.",先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,,"Mutations in FGFR3 cause different disorders.
 FGFR3-related short limb skeletal dysplasias [DS:H00505]
 Muenke craniosynostosis [DS:H00458]
 Lacrimo-auriculo-dento-digital syndrome [DS:H00642]","ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: C537975
 OMIM: 610474","PMID:17033969
 著者        Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
 タイトル      A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
 雑誌        Am J Hum Genet 79:935-41 (2006)
 DOI:10.1086/508433","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00997"">H00997</a>",CATSHL 症候群,"CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.",,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,"Mutations in FGFR3 cause different disorders.
 FGFR3-related short limb skeletal dysplasias [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>]
 Muenke craniosynostosis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]
 Lacrimo-auriculo-dento-digital syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00642"">H00642</a>]","ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537975"">C537975</a>
 OMIM: <a href=""https://www.omim.org/entry/610474"">610474</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033969"">17033969</a>
 著者        Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
 タイトル      A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
 雑誌        Am J Hum Genet 79:935-41 (2006)
 DOI:<a href=""https://doi.org/10.1086/508433"">10.1086/508433</a>"
H00998,小児交互性片麻痺,,,"Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep.",神経系疾患,,"(AHC1) ATP1A2 [HSA:477] [KO:K01539]
 (AHC2) ATP1A3 [HSA:478] [KO:K01539]",,,,,Hemiplegic migraine (H00775) and alternating hemiplegia of childhood (AHC) share some clinical features.,"ICD-11: MB53.0
 ICD-10: G98
 MeSH: C536589
 OMIM: 104290 614820","PMID:8496742
 著者        Bourgeois M, Aicardi J, Goutieres F
 タイトル      Alternating hemiplegia of childhood.
 雑誌        J Pediatr 122:673-9 (1993)
 DOI:10.1016/S0022-3476(06)80003-X
 PMID:17880649 (description, drug, env_factor)
 著者        Neville BG, Ninan M
 タイトル      The treatment and management of alternating hemiplegia of childhood.
 雑誌        Dev Med Child Neurol 49:777-80 (2007)
 DOI:10.1111/j.1469-8749.2007.00777.x
 PMID:15286158
 著者        Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G
 タイトル      A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
 雑誌        J Med Genet 41:621-8 (2004)
 DOI:10.1136/jmg.2003.017863
 PMID:14667076
 著者        Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S
 タイトル      Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
 雑誌        Dev Med Child Neurol 45:833-6 (2003)
 DOI:10.1111/j.1469-8749.2003.tb00899.x
 PMID:18498393
 著者        de Vries B, Stam AH, Beker F, van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM, Ferrari MD
 タイトル      CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
 雑誌        Cephalalgia 28:887-91 (2008)
 DOI:10.1111/j.1468-2982.2008.01596.x
 PMID:22850527
 著者        Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J
 タイトル      Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
 雑誌        Lancet Neurol 11:764-73 (2012)
 DOI:10.1016/S1474-4422(12)70182-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00998"">H00998</a>",小児交互性片麻痺,"Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep.",,"(AHC1) ATP1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:477"">477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 (AHC2) ATP1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:478"">478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]",,,,,Hemiplegic migraine (H00775) and alternating hemiplegia of childhood (AHC) share some clinical features.,"ICD-11: MB53.0
 ICD-10: G98
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536589"">C536589</a>
 OMIM: <a href=""https://www.omim.org/entry/104290"">104290</a> <a href=""https://www.omim.org/entry/614820"">614820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8496742"">8496742</a>
 著者        Bourgeois M, Aicardi J, Goutieres F
 タイトル      Alternating hemiplegia of childhood.
 雑誌        J Pediatr 122:673-9 (1993)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(06)80003-X"">10.1016/S0022-3476(06)80003-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17880649"">17880649</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Neville BG, Ninan M
 タイトル      The treatment and management of alternating hemiplegia of childhood.
 雑誌        Dev Med Child Neurol 49:777-80 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2007.00777.x"">10.1111/j.1469-8749.2007.00777.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15286158"">15286158</a>
 著者        Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G
 タイトル      A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
 雑誌        J Med Genet 41:621-8 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.017863"">10.1136/jmg.2003.017863</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14667076"">14667076</a>
 著者        Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S
 タイトル      Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
 雑誌        Dev Med Child Neurol 45:833-6 (2003)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2003.tb00899.x"">10.1111/j.1469-8749.2003.tb00899.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18498393"">18498393</a>
 著者        de Vries B, Stam AH, Beker F, van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM, Ferrari MD
 タイトル      CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
 雑誌        Cephalalgia 28:887-91 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1468-2982.2008.01596.x"">10.1111/j.1468-2982.2008.01596.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22850527"">22850527</a>
 著者        Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J
 タイトル      Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
 雑誌        Lancet Neurol 11:764-73 (2012)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(12)70182-5"">10.1016/S1474-4422(12)70182-5</a>"
H00999,コエンザイムQ10欠損症,,,"Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary CoQ10 deficiency.",神経系疾患,,"(COQ10D1) COQ2 [HSA:27235] [KO:K06125]
 (COQ10D2) PDSS1 [HSA:23590] [KO:K12504]
 (COQ10D3) PDSS2 [HSA:57107] [KO:K12505]
 (COQ10D4) COQ8A [HSA:56997] [KO:K08869]
 (COQ10D5) COQ9 [HSA:57017] [KO:K18587]
 (COQ10D6) COQ6 [HSA:51004] [KO:K06126]
 (COQ10D7) COQ4 [HSA:51117] [KO:K18586]
 (COQ10D8) COQ7 [HSA:10229] [KO:K06134]
 (COQ10D9) COQ5 [HSA:84274] [KO:K06127]",,,,,,"ICD-11: 5C53.22
 ICD-10: G11.1
 MeSH: C564403
 OMIM: 607426 614651 614652 612016 614654 614650 616276 616733 619028","PMID:19966907
 著者        Spindler M, Beal MF, Henchcliffe C
 タイトル      Coenzyme Q10 effects in neurodegenerative disease.
 雑誌        Neuropsychiatr Dis Treat 5:597-610 (2009)
 DOI:10.2147/ndt.s5212
 PMID:25658047
 著者        Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Burgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D
 タイトル      COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
 雑誌        Am J Hum Genet 96:309-17 (2015)
 DOI:10.1016/j.ajhg.2014.12.023
 PMID:21540551
 著者        Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F
 タイトル      COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
 雑誌        J Clin Invest 121:2013-24 (2011)
 DOI:10.1172/JCI45693
 PMID:26084283
 著者        Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterstrom RH, von Dobeln U, Wredenberg A, Wedell A
 タイトル      Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
 雑誌        J Med Genet 52:779-83 (2015)
 DOI:10.1136/jmedgenet-2015-102986
 PMID:29044765
 著者        Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y
 タイトル      A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
 雑誌        Hum Mutat 39:69-79 (2018)
 DOI:10.1002/humu.23345","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00999"">H00999</a>",コエンザイムQ10欠損症,"Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary CoQ10 deficiency.",,"(COQ10D1) COQ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27235"">27235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06125"">K06125</a>]
 (COQ10D2) PDSS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23590"">23590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12504"">K12504</a>]
 (COQ10D3) PDSS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57107"">57107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12505"">K12505</a>]
 (COQ10D4) COQ8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56997"">56997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08869"">K08869</a>]
 (COQ10D5) COQ9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57017"">57017</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18587"">K18587</a>]
 (COQ10D6) COQ6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51004"">51004</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06126"">K06126</a>]
 (COQ10D7) COQ4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51117"">51117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18586"">K18586</a>]
 (COQ10D8) COQ7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10229"">10229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06134"">K06134</a>]
 (COQ10D9) COQ5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84274"">84274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06127"">K06127</a>]",,,,,,"ICD-11: 5C53.22
 ICD-10: G11.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564403"">C564403</a>
 OMIM: <a href=""https://www.omim.org/entry/607426"">607426</a> <a href=""https://www.omim.org/entry/614651"">614651</a> <a href=""https://www.omim.org/entry/614652"">614652</a> <a href=""https://www.omim.org/entry/612016"">612016</a> <a href=""https://www.omim.org/entry/614654"">614654</a> <a href=""https://www.omim.org/entry/614650"">614650</a> <a href=""https://www.omim.org/entry/616276"">616276</a> <a href=""https://www.omim.org/entry/616733"">616733</a> <a href=""https://www.omim.org/entry/619028"">619028</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19966907"">19966907</a>
 著者        Spindler M, Beal MF, Henchcliffe C
 タイトル      Coenzyme Q10 effects in neurodegenerative disease.
 雑誌        Neuropsychiatr Dis Treat 5:597-610 (2009)
 DOI:<a href=""https://doi.org/10.2147/ndt.s5212"">10.2147/ndt.s5212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25658047"">25658047</a>
 著者        Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Burgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D
 タイトル      COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
 雑誌        Am J Hum Genet 96:309-17 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.023"">10.1016/j.ajhg.2014.12.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21540551"">21540551</a>
 著者        Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F
 タイトル      COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
 雑誌        J Clin Invest 121:2013-24 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI45693"">10.1172/JCI45693</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26084283"">26084283</a>
 著者        Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterstrom RH, von Dobeln U, Wredenberg A, Wedell A
 タイトル      Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
 雑誌        J Med Genet 52:779-83 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-102986"">10.1136/jmedgenet-2015-102986</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29044765"">29044765</a>
 著者        Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y
 タイトル      A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
 雑誌        Hum Mutat 39:69-79 (2018)
 DOI:<a href=""https://doi.org/10.1002/humu.23345"">10.1002/humu.23345</a>"
H01000,脳白質萎縮症を伴う網膜脈管障害,,,"Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.",神経系疾患,,TREX1 [HSA:11277] [KO:K10790],,,,,,"ICD-11: 9B78.0
 MeSH: C566007
 OMIM: 192315","PMID:17660820 (gene, descrition)
 著者        Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schafer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP
 タイトル      C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
 雑誌        Nat Genet 39:1068-70 (2007)
 DOI:10.1038/ng2082
 PMID:18805785
 著者        Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW
 タイトル      The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
 雑誌        J Biol Chem 283:31649-56 (2008)
 DOI:10.1074/jbc.M806155200
 PMID:18724932
 著者        Stetson DB, Ko JS, Heidmann T, Medzhitov R
 タイトル      Trex1 prevents cell-intrinsic initiation of autoimmunity.
 雑誌        Cell 134:587-98 (2008)
 DOI:10.1016/j.cell.2008.06.032","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01000"">H01000</a>",脳白質萎縮症を伴う網膜脈管障害,"Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.",,"TREX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11277"">11277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10790"">K10790</a>]",,,,,,"ICD-11: 9B78.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566007"">C566007</a>
 OMIM: <a href=""https://www.omim.org/entry/192315"">192315</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17660820"">17660820</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/descrition)"">descrition)</a>
 著者        Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schafer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP
 タイトル      C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
 雑誌        Nat Genet 39:1068-70 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2082"">10.1038/ng2082</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18805785"">18805785</a>
 著者        Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW
 タイトル      The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
 雑誌        J Biol Chem 283:31649-56 (2008)
 DOI:<a href=""https://doi.org/10.1074/jbc.M806155200"">10.1074/jbc.M806155200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18724932"">18724932</a>
 著者        Stetson DB, Ko JS, Heidmann T, Medzhitov R
 タイトル      Trex1 prevents cell-intrinsic initiation of autoimmunity.
 雑誌        Cell 134:587-98 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2008.06.032"">10.1016/j.cell.2008.06.032</a>"
H01001,COACH 症候群,,,"COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called the 'molar tooth sign' that is characteristic to Joubert syndrome.",先天奇形,,"CC2D2A [HSA:57545] [KO:K19352]
 RPGRIP1L [HSA:23322] [KO:K16550]
 TMEM67 [HSA:91147] [KO:K19348]",,,,,,"ICD-11: LD20.0Y
 ICD-10: Q04.3
 MeSH: C536430
 OMIM: 216360","PMID:19574260
 著者        Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA
 タイトル      Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
 雑誌        J Med Genet 47:8-21 (2010)
 DOI:10.1136/jmg.2009.067249
 PMID:8862632
 著者        Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G
 タイトル      COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.
 雑誌        Am J Med Genet 64:514-20 (1996)
 DOI:10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO;2-O
 PMID:2929661
 著者        Verloes A, Lambotte C
 タイトル      Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
 雑誌        Am J Med Genet 32:227-32 (1989)
 DOI:10.1002/ajmg.1320320217","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01001"">H01001</a>",COACH 症候群,"COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called the 'molar tooth sign' that is characteristic to Joubert syndrome.",,"CC2D2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57545"">57545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19352"">K19352</a>]
 RPGRIP1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23322"">23322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16550"">K16550</a>]
 TMEM67 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91147"">91147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19348"">K19348</a>]",,,,,,"ICD-11: LD20.0Y
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536430"">C536430</a>
 OMIM: <a href=""https://www.omim.org/entry/216360"">216360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19574260"">19574260</a>
 著者        Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA
 タイトル      Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
 雑誌        J Med Genet 47:8-21 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.067249"">10.1136/jmg.2009.067249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8862632"">8862632</a>
 著者        Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G
 タイトル      COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.
 雑誌        Am J Med Genet 64:514-20 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19960823)64:"">10.1002/(SICI)1096-8628(19960823)64:</a><a href=""https://doi.org/3<514:"">3<514:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG13>3.0.CO;2-O"">AID-AJMG13>3.0.CO;2-O</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2929661"">2929661</a>
 著者        Verloes A, Lambotte C
 タイトル      Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
 雑誌        Am J Med Genet 32:227-32 (1989)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320320217"">10.1002/ajmg.1320320217</a>"
H01002,乳児全身性動脈石灰化 (GACI),,,"Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating mutations in ENPP1 in about 75% of the cases. ENPP1 generates PPi that inhibits hydroxyapatite crystal growth.",循環器疾患,,"(GACI1) ENPP1 [HSA:5167] [KO:K01513]
 (GACI2) ABCC6 [HSA:368] [KO:K05669]",,,,,Spontaneous pathologic arterial calcifications in childhood can occur in both GACI and pseudoxanthoma elasticum (H00560).,"ICD-11: BD52.Y
 ICD-10: Q28.8
 MeSH: C537440
 OMIM: 208000 614473","PMID:19229237
 著者        Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF
 タイトル      Generalized arterial calcification of infancy: treatment with bisphosphonates.
 雑誌        Nat Clin Pract Endocrinol Metab 5:167-72 (2009)
 DOI:10.1038/ncpendmet1067
 PMID:15940697
 著者        Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F
 タイトル      Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
 雑誌        Am J Med Genet A 136:210-3 (2005)
 DOI:10.1002/ajmg.a.30800
 PMID:22229486 (ENPP1)
 著者        Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J
 タイトル      Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
 雑誌        Br J Dermatol 166:1107-11 (2012)
 DOI:10.1111/j.1365-2133.2012.10811.x
 PMID:22209248 (ENPP1 ABCC6)
 著者        Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Hohne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F
 タイトル      Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6.
 雑誌        Am J Hum Genet 90:25-39 (2012)
 DOI:10.1016/j.ajhg.2011.11.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01002"">H01002</a>",乳児全身性動脈石灰化 (GACI),"Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating mutations in ENPP1 in about 75% of the cases. ENPP1 generates PPi that inhibits hydroxyapatite crystal growth.",,"(GACI1) ENPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]
 (GACI2) ABCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:368"">368</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05669"">K05669</a>]",,,,,Spontaneous pathologic arterial calcifications in childhood can occur in both GACI and pseudoxanthoma elasticum (H00560).,"ICD-11: BD52.Y
 ICD-10: Q28.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537440"">C537440</a>
 OMIM: <a href=""https://www.omim.org/entry/208000"">208000</a> <a href=""https://www.omim.org/entry/614473"">614473</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19229237"">19229237</a>
 著者        Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF
 タイトル      Generalized arterial calcification of infancy: treatment with bisphosphonates.
 雑誌        Nat Clin Pract Endocrinol Metab 5:167-72 (2009)
 DOI:<a href=""https://doi.org/10.1038/ncpendmet1067"">10.1038/ncpendmet1067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15940697"">15940697</a>
 著者        Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F
 タイトル      Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
 雑誌        Am J Med Genet A 136:210-3 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30800"">10.1002/ajmg.a.30800</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22229486"">22229486</a> (ENPP1)
 著者        Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J
 タイトル      Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
 雑誌        Br J Dermatol 166:1107-11 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2012.10811.x"">10.1111/j.1365-2133.2012.10811.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22209248"">22209248</a> (ENPP1 <a href=""https://pubmed.ncbi.nlm.nih.gov/ABCC6)"">ABCC6)</a>
 著者        Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Hohne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F
 タイトル      Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6.
 雑誌        Am J Hum Genet 90:25-39 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.020"">10.1016/j.ajhg.2011.11.020</a>"
H01003,ジメチルグリシンデヒドロゲナーゼ欠損,,,"Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline.",先天性代謝異常症,,(DMGDHD) DMGDH [HSA:29958] [KO:K00315],,,,,,"ICD-11: 5C50.7
 ICD-10: E72.5
 MeSH: C565278
 OMIM: 605850 268900","PMID:11231903
 著者        Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J
 タイトル      Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
 雑誌        Am J Hum Genet 68:839-47 (2001)
 DOI:10.1086/319520","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01003"">H01003</a>",ジメチルグリシンデヒドロゲナーゼ欠損,"Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline.",,"(DMGDHD) DMGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29958"">29958</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00315"">K00315</a>]",,,,,,"ICD-11: 5C50.7
 ICD-10: E72.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565278"">C565278</a>
 OMIM: <a href=""https://www.omim.org/entry/605850"">605850</a> <a href=""https://www.omim.org/entry/268900"">268900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11231903"">11231903</a>
 著者        Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J
 タイトル      Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
 雑誌        Am J Hum Genet 68:839-47 (2001)
 DOI:<a href=""https://doi.org/10.1086/319520"">10.1086/319520</a>"
H01004,"口蓋心臓顔面症候群
 下位グループ    Shprintzen 症候群
 上位グループ    22q11.2 欠失症候群 [DS:H01525]",,,"Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia.",染色体異常,,"TBX1 [HSA:6899] [KO:K10175]
 DGCR2 [HSA:9993]
 DGCR6 [HSA:8214]
 DGCR8 [HSA:54487] [KO:K18419]
 ESS2 [HSA:8220] [KO:K13118]",,,,,Velocardiofacial syndrome is closely related to DiGeorge syndrome (H01524).,"ICD-11: LD44.N0
 ICD-10: D82.1
 MeSH: D058165
 OMIM: 192430","PMID:11689394
 著者        Murphy KC, Owen MJ
 タイトル      Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.
 雑誌        Br J Psychiatry 179:397-402 (2001)
 DOI:10.1192/bjp.179.5.397
 PMID:11844533
 著者        Murphy KC
 タイトル      Schizophrenia and velo-cardio-facial syndrome.
 雑誌        Lancet 359:426-30 (2002)
 DOI:10.1016/S0140-6736(02)07604-3
 PMID:14585638 (TBX1)
 著者        Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R
 タイトル      Role of TBX1 in human del22q11.2 syndrome.
 雑誌        Lancet 362:1366-73 (2003)
 DOI:10.1016/S0140-6736(03)14632-6
 PMID:31174463 (DGCR2, DGCR6, DGCR8, ESS2)
 著者        Motahari Z, Moody SA, Maynard TM, LaMantia AS
 タイトル      In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
 雑誌        J Neurodev Disord 11:7 (2019)
 DOI:10.1186/s11689-019-9267-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01004"">H01004</a>","口蓋心臓顔面症候群
 下位グループ    Shprintzen 症候群
 上位グループ    22q11.2 欠失症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a>]","Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia.",,"TBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6899"">6899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10175"">K10175</a>]
 DGCR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9993"">9993</a>]
 DGCR6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8214"">8214</a>]
 DGCR8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54487"">54487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18419"">K18419</a>]
 ESS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8220"">8220</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13118"">K13118</a>]",,,,,Velocardiofacial syndrome is closely related to DiGeorge syndrome (H01524).,"ICD-11: LD44.N0
 ICD-10: D82.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058165"">D058165</a>
 OMIM: <a href=""https://www.omim.org/entry/192430"">192430</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11689394"">11689394</a>
 著者        Murphy KC, Owen MJ
 タイトル      Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.
 雑誌        Br J Psychiatry 179:397-402 (2001)
 DOI:<a href=""https://doi.org/10.1192/bjp.179.5.397"">10.1192/bjp.179.5.397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11844533"">11844533</a>
 著者        Murphy KC
 タイトル      Schizophrenia and velo-cardio-facial syndrome.
 雑誌        Lancet 359:426-30 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(02)07604-3"">10.1016/S0140-6736(02)07604-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14585638"">14585638</a> (TBX1)
 著者        Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R
 タイトル      Role of TBX1 in human del22q11.2 syndrome.
 雑誌        Lancet 362:1366-73 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14632-6"">10.1016/S0140-6736(03)14632-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31174463"">31174463</a> (DGCR2, <a href=""https://pubmed.ncbi.nlm.nih.gov/DGCR6,"">DGCR6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/DGCR8,"">DGCR8,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ESS2)"">ESS2)</a>
 著者        Motahari Z, Moody SA, Maynard TM, LaMantia AS
 タイトル      In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
 雑誌        J Neurodev Disord 11:7 (2019)
 DOI:<a href=""https://doi.org/10.1186/s11689-019-9267-z"">10.1186/s11689-019-9267-z</a>"
H01005,ドーパミンベータヒドロキシラーゼ欠損症,,,Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.,神経系疾患,,DBH [HSA:1621] [KO:K00503],,,,,,"ICD-11: 5C59.00
 ICD-10: G90.8
 MeSH: C535600
 OMIM: 223360","PMID:20301647
 著者        Robertson D, Garland EM
 タイトル      Dopamine Beta-Hydroxylase Deficiency
 雑誌        GeneReviews (1993)
 PMID:16722595
 著者        Senard JM, Rouet P
 タイトル      Dopamine beta-hydroxylase deficiency.
 雑誌        Orphanet J Rare Dis 1:7 (2006)
 DOI:10.1186/1750-1172-1-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01005"">H01005</a>",ドーパミンベータヒドロキシラーゼ欠損症,Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.,,"DBH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1621"">1621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00503"">K00503</a>]",,,,,,"ICD-11: 5C59.00
 ICD-10: G90.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535600"">C535600</a>
 OMIM: <a href=""https://www.omim.org/entry/223360"">223360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301647"">20301647</a>
 著者        Robertson D, Garland EM
 タイトル      Dopamine Beta-Hydroxylase Deficiency
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722595"">16722595</a>
 著者        Senard JM, Rouet P
 タイトル      Dopamine beta-hydroxylase deficiency.
 雑誌        Orphanet J Rare Dis 1:7 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-7"">10.1186/1750-1172-1-7</a>"
H01006,遺伝性血管性浮腫,,,"Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels.",循環器系疾患,,"(HAE1/2) SERPING1 [HSA:710] [KO:K04001]
 (HAE3) F12 [HSA:2161] [KO:K01328]
 (HAE4) PLG [HSA:5340] [KO:K01315]
 (HAE5) ANGPT1 [HSA:284] [KO:K05465]
 (HAE6) KNG1 [HSA:3827] [KO:K03898]
 (HAE7) MYOF [HSA:26509] [KO:K22125]
 (HAE8) HS3ST6 [HSA:64711] [KO:K09679]",,,,"イカチバント酢酸塩 [DR:D04492]
 ラナデルマブ [DR:D11094]
 ベロトラルスタット塩酸塩 [DR:D11674]
 乾燥濃縮ヒトC-1インアクチベーター [DR:D08780]",,"ICD-11: 4A00.14
 ICD-10: D84.1
 OMIM: 106100 610618 619360 619361 619363 619366 619367","PMID:14572810
 著者        Davis AE 3rd
 タイトル      The pathogenesis of hereditary angioedema.
 雑誌        Transfus Apher Sci 29:195-203 (2003)
 DOI:10.1016/j.transci.2003.08.012
 PMID:15596403
 著者        Davis AE 3rd
 タイトル      The pathophysiology of hereditary angioedema.
 雑誌        Clin Immunol 114:3-9 (2005)
 DOI:10.1016/j.clim.2004.05.007
 PMID:17186468
 著者        Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM
 タイトル      Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
 雑誌        Am J Hum Genet 79:1098-104 (2006)
 DOI:10.1086/509899
 PMID:33799813
 著者        Farkas H, Doczy A, Szabo E, Varga L, Csuka D
 タイトル      Screening for Plasminogen Mutations in Hereditary Angioedema Patients.
 雑誌        Genes (Basel) 12:402 (2021)
 DOI:10.3390/genes12030402
 PMID:28601681
 著者        Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M
 タイトル      Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.
 雑誌        J Allergy Clin Immunol 141:1009-1017 (2018)
 DOI:10.1016/j.jaci.2017.05.020
 PMID:33114181
 著者        Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE
 タイトル      Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
 雑誌        J Clin Med 9:E3402 (2020)
 DOI:10.3390/jcm9113402
 PMID:34065094
 著者        Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M
 タイトル      The Genetics of Hereditary Angioedema: A Review.
 雑誌        J Clin Med 10:2023 (2021)
 DOI:10.3390/jcm10092023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01006"">H01006</a>",遺伝性血管性浮腫,"Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels.",,"(HAE1/2) SERPING1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:710"">710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04001"">K04001</a>]
 (HAE3) F12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2161"">2161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01328"">K01328</a>]
 (HAE4) PLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5340"">5340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01315"">K01315</a>]
 (HAE5) ANGPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284"">284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05465"">K05465</a>]
 (HAE6) KNG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3827"">3827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03898"">K03898</a>]
 (HAE7) MYOF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26509"">26509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22125"">K22125</a>]
 (HAE8) HS3ST6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64711"">64711</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09679"">K09679</a>]",,,,"イカチバント酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04492"">D04492</a>]
 ラナデルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11094"">D11094</a>]
 ベロトラルスタット塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11674"">D11674</a>]
 乾燥濃縮ヒトC-1インアクチベーター [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08780"">D08780</a>]",,"ICD-11: 4A00.14
 ICD-10: D84.1
 OMIM: <a href=""https://www.omim.org/entry/106100"">106100</a> <a href=""https://www.omim.org/entry/610618"">610618</a> <a href=""https://www.omim.org/entry/619360"">619360</a> <a href=""https://www.omim.org/entry/619361"">619361</a> <a href=""https://www.omim.org/entry/619363"">619363</a> <a href=""https://www.omim.org/entry/619366"">619366</a> <a href=""https://www.omim.org/entry/619367"">619367</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14572810"">14572810</a>
 著者        Davis AE 3rd
 タイトル      The pathogenesis of hereditary angioedema.
 雑誌        Transfus Apher Sci 29:195-203 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.transci.2003.08.012"">10.1016/j.transci.2003.08.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15596403"">15596403</a>
 著者        Davis AE 3rd
 タイトル      The pathophysiology of hereditary angioedema.
 雑誌        Clin Immunol 114:3-9 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2004.05.007"">10.1016/j.clim.2004.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17186468"">17186468</a>
 著者        Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM
 タイトル      Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
 雑誌        Am J Hum Genet 79:1098-104 (2006)
 DOI:<a href=""https://doi.org/10.1086/509899"">10.1086/509899</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33799813"">33799813</a>
 著者        Farkas H, Doczy A, Szabo E, Varga L, Csuka D
 タイトル      Screening for Plasminogen Mutations in Hereditary Angioedema Patients.
 雑誌        Genes (Basel) 12:402 (2021)
 DOI:<a href=""https://doi.org/10.3390/genes12030402"">10.3390/genes12030402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28601681"">28601681</a>
 著者        Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M
 タイトル      Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.
 雑誌        J Allergy Clin Immunol 141:1009-1017 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2017.05.020"">10.1016/j.jaci.2017.05.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33114181"">33114181</a>
 著者        Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE
 タイトル      Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
 雑誌        J Clin Med 9:E3402 (2020)
 DOI:<a href=""https://doi.org/10.3390/jcm9113402"">10.3390/jcm9113402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34065094"">34065094</a>
 著者        Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M
 タイトル      The Genetics of Hereditary Angioedema: A Review.
 雑誌        J Clin Med 10:2023 (2021)
 DOI:<a href=""https://doi.org/10.3390/jcm10092023"">10.3390/jcm10092023</a>"
H01007,脈絡叢乳頭腫,,,"Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are categorized by three distinct histologies; choroid plexus papilloma, atypical choroid plexus papilloma, and the malignant choroid plexus carcinoma. Choroid plexus papillomas outnumber choroid plexus carcinomas and are composed of a single layer of cuboidal-to-columnar cells, resting on a basement membrane overlying papillary and vascularized connective tissue.",神経系疾患,,p53 [HSA:7157] [KO:K04451],,,,,,"ICD-11: 2A00.22
 ICD-10: D33.0
 MeSH: D020288
 OMIM: 260500","PMID:3217283
 著者        Tomita T, McLone DG, Flannery AM
 タイトル      Choroid plexus papillomas of neonates, infants and children.
 雑誌        Pediatr Neurosci 14:23-30 (1988)
 DOI:10.1159/000120358
 PMID:21990040
 著者        Gozali AE, Britt B, Shane L, Gonzalez I, Gilles F, McComb JG, Krieger MD, Lavey RS, Shlien A, Villablanca JG, Erdreich-Epstein A, Dhall G, Jubran R, Tabori U, Malkin D, Finlay JL
 タイトル      Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.
 雑誌        Pediatr Blood Cancer 58:905-9 (2012)
 DOI:10.1002/pbc.23349
 PMID:21970783
 著者        Ogiwara H, Dipatri AJ, Alden TD, Bowman RM, Tomita T
 タイトル      Choroid plexus tumors in pediatric patients.
 雑誌        Br J Neurosurg 26:32-7 (2012)
 DOI:10.3109/02688697.2011.601820
 PMID:11135453
 著者        Rickert CH, Paulus W
 タイトル      Tumors of the choroid plexus.
 雑誌        Microsc Res Tech 52:104-11 (2001)
 DOI:10.1002/1097-0029(20010101)52:1<104::AID-JEMT12>3.0.CO;2-3
 PMID:22059144
 著者        Imai M, Tominaga J, Matsumae M
 タイトル      Choroid plexus papilloma originating from the cerebrum parenchyma.
 雑誌        Surg Neurol Int 2:151 (2011)
 DOI:10.4103/2152-7806.86228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01007"">H01007</a>",脈絡叢乳頭腫,"Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are categorized by three distinct histologies; choroid plexus papilloma, atypical choroid plexus papilloma, and the malignant choroid plexus carcinoma. Choroid plexus papillomas outnumber choroid plexus carcinomas and are composed of a single layer of cuboidal-to-columnar cells, resting on a basement membrane overlying papillary and vascularized connective tissue.",,"p53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,,,,"ICD-11: 2A00.22
 ICD-10: D33.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020288"">D020288</a>
 OMIM: <a href=""https://www.omim.org/entry/260500"">260500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3217283"">3217283</a>
 著者        Tomita T, McLone DG, Flannery AM
 タイトル      Choroid plexus papillomas of neonates, infants and children.
 雑誌        Pediatr Neurosci 14:23-30 (1988)
 DOI:<a href=""https://doi.org/10.1159/000120358"">10.1159/000120358</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21990040"">21990040</a>
 著者        Gozali AE, Britt B, Shane L, Gonzalez I, Gilles F, McComb JG, Krieger MD, Lavey RS, Shlien A, Villablanca JG, Erdreich-Epstein A, Dhall G, Jubran R, Tabori U, Malkin D, Finlay JL
 タイトル      Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.
 雑誌        Pediatr Blood Cancer 58:905-9 (2012)
 DOI:<a href=""https://doi.org/10.1002/pbc.23349"">10.1002/pbc.23349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21970783"">21970783</a>
 著者        Ogiwara H, Dipatri AJ, Alden TD, Bowman RM, Tomita T
 タイトル      Choroid plexus tumors in pediatric patients.
 雑誌        Br J Neurosurg 26:32-7 (2012)
 DOI:<a href=""https://doi.org/10.3109/02688697.2011.601820"">10.3109/02688697.2011.601820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11135453"">11135453</a>
 著者        Rickert CH, Paulus W
 タイトル      Tumors of the choroid plexus.
 雑誌        Microsc Res Tech 52:104-11 (2001)
 DOI:<a href=""https://doi.org/10.1002/1097-0029(20010101)52:"">10.1002/1097-0029(20010101)52:</a><a href=""https://doi.org/1<104:"">1<104:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-JEMT12>3.0.CO;2-3"">AID-JEMT12>3.0.CO;2-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22059144"">22059144</a>
 著者        Imai M, Tominaga J, Matsumae M
 タイトル      Choroid plexus papilloma originating from the cerebrum parenchyma.
 雑誌        Surg Neurol Int 2:151 (2011)
 DOI:<a href=""https://doi.org/10.4103/2152-7806.86228"">10.4103/2152-7806.86228</a>"
H01008,"C 症候群;
 オピッツ三角頭蓋症候群",,,"The C syndrome/ Opitz trigonocephaly syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in CD96, a member of the immunoglobulin superfamily.",先天奇形,,CD96 [HSA:10225] [KO:K06517],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: C537418
 OMIM: 211750","PMID:17847009
 著者        Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
 タイトル      Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
 雑誌        Am J Hum Genet 81:835-41 (2007)
 DOI:10.1086/522014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01008"">H01008</a>","C 症候群;
 オピッツ三角頭蓋症候群","The C syndrome/ Opitz trigonocephaly syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in CD96, a member of the immunoglobulin superfamily.",,"CD96 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10225"">10225</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06517"">K06517</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537418"">C537418</a>
 OMIM: <a href=""https://www.omim.org/entry/211750"">211750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17847009"">17847009</a>
 著者        Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
 タイトル      Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
 雑誌        Am J Hum Genet 81:835-41 (2007)
 DOI:<a href=""https://doi.org/10.1086/522014"">10.1086/522014</a>"
H01009,ニューファンドランド錐体杆体ジストロフィー,,,"Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD.",神経系疾患,,RLBP1 [HSA:6017] [KO:K19625],,,,,,"ICD-11: 9B70
 MeSH: C564391
 OMIM: 607476","PMID:11868161
 著者        Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
 タイトル      Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
 雑誌        Am J Hum Genet 70:955-64 (2002)
 DOI:10.1086/339688","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01009"">H01009</a>",ニューファンドランド錐体杆体ジストロフィー,"Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD.",,"RLBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6017"">6017</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19625"">K19625</a>]",,,,,,"ICD-11: 9B70
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564391"">C564391</a>
 OMIM: <a href=""https://www.omim.org/entry/607476"">607476</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11868161"">11868161</a>
 著者        Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
 タイトル      Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
 雑誌        Am J Hum Genet 70:955-64 (2002)
 DOI:<a href=""https://doi.org/10.1086/339688"">10.1086/339688</a>"
H01010,"オカルト黄斑ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible for OMD.",神経系疾患,,RP1L1 [HSA:94137] [KO:K19538],,,,,,"ICD-11: 9B75.Y
 ICD-10: H35.5
 OMIM: 613587","PMID:20826268
 著者        Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T
 タイトル      Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
 雑誌        Am J Hum Genet 87:424-9 (2010)
 DOI:10.1016/j.ajhg.2010.08.009
 PMID:21555613
 著者        Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y
 タイトル      Fundus autofluorescence in autosomal dominant occult macular dystrophy.
 雑誌        Arch Ophthalmol 129:597-602 (2011)
 DOI:10.1001/archophthalmol.2011.96","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01010"">H01010</a>","オカルト黄斑ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible for OMD.",,"RP1L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94137"">94137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19538"">K19538</a>]",,,,,,"ICD-11: 9B75.Y
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/613587"">613587</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20826268"">20826268</a>
 著者        Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T
 タイトル      Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
 雑誌        Am J Hum Genet 87:424-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.009"">10.1016/j.ajhg.2010.08.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21555613"">21555613</a>
 著者        Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y
 タイトル      Fundus autofluorescence in autosomal dominant occult macular dystrophy.
 雑誌        Arch Ophthalmol 129:597-602 (2011)
 DOI:<a href=""https://doi.org/10.1001/archophthalmol.2011.96"">10.1001/archophthalmol.2011.96</a>"
H01011,"ACTH単独欠損症
 上位グループ    下垂体前葉機能低下症 [DS:H01700]",,,"Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.",,,TBX19 [HSA:9095] [KO:K10184],,,,"デキサメタゾン [DR:D00292]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]",,"ICD-11: 5A61.1
 ICD-10: E23.6
 MeSH: C535668
 OMIM: 201400","PMID:16390921
 著者        Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
 タイトル      Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
 雑誌        Pediatrics 117:e322-7 (2006)
 DOI:10.1542/peds.2005-1973
 PMID:22170728
 著者        Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Fluck CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S
 タイトル      Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
 雑誌        J Clin Endocrinol Metab 97:E486-95 (2012)
 DOI:10.1210/jc.2011-1659
 PMID:22028893
 著者        Pham LL, Garot C, Brue T, Brauner R
 タイトル      Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
 雑誌        PLoS One 6:e26516 (2011)
 DOI:10.1371/journal.pone.0026516","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01011"">H01011</a>","ACTH単独欠損症
 上位グループ    下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.",,"TBX19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9095"">9095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10184"">K10184</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]",,"ICD-11: 5A61.1
 ICD-10: E23.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535668"">C535668</a>
 OMIM: <a href=""https://www.omim.org/entry/201400"">201400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16390921"">16390921</a>
 著者        Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
 タイトル      Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
 雑誌        Pediatrics 117:e322-7 (2006)
 DOI:<a href=""https://doi.org/10.1542/peds.2005-1973"">10.1542/peds.2005-1973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22170728"">22170728</a>
 著者        Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Fluck CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S
 タイトル      Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
 雑誌        J Clin Endocrinol Metab 97:E486-95 (2012)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-1659"">10.1210/jc.2011-1659</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028893"">22028893</a>
 著者        Pham LL, Garot C, Brue T, Brauner R
 タイトル      Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
 雑誌        PLoS One 6:e26516 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0026516"">10.1371/journal.pone.0026516</a>"
H01012,眼-耳症候群,,,"Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.",先天奇形,,HMX1 [HSA:3166] [KO:K09349],,,,,,"ICD-11: LD21.Y
 ICD-10: Q18
 OMIM: 612109","PMID:18423520
 著者        Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL
 タイトル      Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
 雑誌        Am J Hum Genet 82:1178-84 (2008)
 DOI:10.1016/j.ajhg.2008.03.007
 PMID:21417677
 著者        Vaclavik V, Schorderet DF, Borruat FX, Munier FL
 タイトル      Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
 雑誌        Ophthalmic Genet 32:114-7 (2011)
 DOI:10.3109/13816810.2011.562955","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01012"">H01012</a>",眼-耳症候群,"Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.",,"HMX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3166"">3166</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09349"">K09349</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q18
 OMIM: <a href=""https://www.omim.org/entry/612109"">612109</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18423520"">18423520</a>
 著者        Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL
 タイトル      Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
 雑誌        Am J Hum Genet 82:1178-84 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.007"">10.1016/j.ajhg.2008.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21417677"">21417677</a>
 著者        Vaclavik V, Schorderet DF, Borruat FX, Munier FL
 タイトル      Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
 雑誌        Ophthalmic Genet 32:114-7 (2011)
 DOI:<a href=""https://doi.org/10.3109/13816810.2011.562955"">10.3109/13816810.2011.562955</a>"
H01013,成人i型,,,"Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids on the cell surface of a variety of tissues and body fluids. Most adult red blood cells (RBCs) abundantly express I antigen. Conversion of the i antigen into an I structure takes place during the first 18 months after birth as a result of the expression of a specific transferase, I-branching GCNT2. Lack of this enzyme results in the adult i phenotype.",血液疾患,,GCNT2 [HSA:2651] [KO:K00742],,,,,,OMIM: 110800,"PMID:21912254
 著者        Yu LC, Lin M
 タイトル      Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.
 雑誌        Curr Opin Hematol 18:421-6 (2011)
 DOI:10.1097/MOH.0b013e32834baae9
 PMID:15161861
 著者        Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF
 タイトル      A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
 雑誌        Invest Ophthalmol Vis Sci 45:1940-5 (2004)
 DOI:10.1167/iovs.03-1117","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01013"">H01013</a>",成人i型,"Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids on the cell surface of a variety of tissues and body fluids. Most adult red blood cells (RBCs) abundantly express I antigen. Conversion of the i antigen into an I structure takes place during the first 18 months after birth as a result of the expression of a specific transferase, I-branching GCNT2. Lack of this enzyme results in the adult i phenotype.",,"GCNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2651"">2651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00742"">K00742</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/110800"">110800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21912254"">21912254</a>
 著者        Yu LC, Lin M
 タイトル      Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.
 雑誌        Curr Opin Hematol 18:421-6 (2011)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e32834baae9"">10.1097/MOH.0b013e32834baae9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15161861"">15161861</a>
 著者        Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF
 タイトル      A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
 雑誌        Invest Ophthalmol Vis Sci 45:1940-5 (2004)
 DOI:<a href=""https://doi.org/10.1167/iovs.03-1117"">10.1167/iovs.03-1117</a>"
H01014,孤虫症,,,"Human sparganosis is caused by the larval form (spargana) of the canine/feline tapeworms belonging to the genus Spirometra. A wide range of amphibians, reptiles, birds, and mammals serve as second intermediate/paratenic hosts. Humans become infected by ingesting the raw or undercooked meat of snakes or frogs, drinking untreated water, or using raw flesh in traditional poultices. Sparganosis has been reported sporadically around the world, and a higher prevalence of the disease occurs in several Asian countries. Spargana invade the brain, eyes, spinal cord, breast, and subcutaneous tissues, leading to blindness, paralysis, and even death.",感染症,,,"Spirometra mansonoides (United States)
 Spirometra mansoni (Asia)
 Spirometra proliferum",,,,,"ICD-11: 1F75
 ICD-10: B70.1
 MeSH: D013031","PMID:9516692
 著者        Dunn IJ, Palmer PE
 タイトル      Sparganosis.
 雑誌        Semin Roentgenol 33:86-8 (1998)
 DOI:10.1016/S0037-198X(98)80034-5
 PMID:21459073
 著者        Anantaphruti MT, Nawa Y, Vanvanitchai Y
 タイトル      Human sparganosis in Thailand: an overview.
 雑誌        Acta Trop 118:171-6 (2011)
 DOI:10.1016/j.actatropica.2011.03.011
 PMID:21126898
 著者        Li MW, Song HQ, Li C, Lin HY, Xie WT, Lin RQ, Zhu XQ
 タイトル      Sparganosis in mainland China.
 雑誌        Int J Infect Dis 15:e154-6 (2011)
 DOI:10.1016/j.ijid.2010.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01014"">H01014</a>",孤虫症,"Human sparganosis is caused by the larval form (spargana) of the canine/feline tapeworms belonging to the genus Spirometra. A wide range of amphibians, reptiles, birds, and mammals serve as second intermediate/paratenic hosts. Humans become infected by ingesting the raw or undercooked meat of snakes or frogs, drinking untreated water, or using raw flesh in traditional poultices. Sparganosis has been reported sporadically around the world, and a higher prevalence of the disease occurs in several Asian countries. Spargana invade the brain, eyes, spinal cord, breast, and subcutaneous tissues, leading to blindness, paralysis, and even death.",,,"Spirometra mansonoides (United States)
 Spirometra mansoni (Asia)
 Spirometra proliferum",,,,,"ICD-11: 1F75
 ICD-10: B70.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013031"">D013031</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9516692"">9516692</a>
 著者        Dunn IJ, Palmer PE
 タイトル      Sparganosis.
 雑誌        Semin Roentgenol 33:86-8 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0037-198X(98)80034-5"">10.1016/S0037-198X(98)80034-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21459073"">21459073</a>
 著者        Anantaphruti MT, Nawa Y, Vanvanitchai Y
 タイトル      Human sparganosis in Thailand: an overview.
 雑誌        Acta Trop 118:171-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2011.03.011"">10.1016/j.actatropica.2011.03.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21126898"">21126898</a>
 著者        Li MW, Song HQ, Li C, Lin HY, Xie WT, Lin RQ, Zhu XQ
 タイトル      Sparganosis in mainland China.
 雑誌        Int J Infect Dis 15:e154-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2010.10.001"">10.1016/j.ijid.2010.10.001</a>"
H01015,Jalili 症候群,,,Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putative metal transporter that expressed in the neural retina and in ameloblasts in the developing tooth.,神経系疾患,,CNNM4 [HSA:26504] [KO:K16302],,,,,"Cone-rod dystrophy and amelogenesis imperfecta are described in H00481 and H00645, respectively.","ICD-11: LA30.6
 ICD-10: H35.5
 MeSH: C536604
 OMIM: 217080","PMID:19200525 (descritpion, gene)
 著者        Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF
 タイトル      Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
 雑誌        Am J Hum Genet 84:266-73 (2009)
 DOI:10.1016/j.ajhg.2009.01.009
 PMID:20706282
 著者        Jalili IK
 タイトル      Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
 雑誌        Eye (Lond) 24:1659-68 (2010)
 DOI:10.1038/eye.2010.103","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01015"">H01015</a>",Jalili 症候群,Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putative metal transporter that expressed in the neural retina and in ameloblasts in the developing tooth.,,"CNNM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26504"">26504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16302"">K16302</a>]",,,,,"Cone-rod dystrophy and amelogenesis imperfecta are described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00481"">H00481</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00645,"">H00645,</a> respectively.","ICD-11: LA30.6
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536604"">C536604</a>
 OMIM: <a href=""https://www.omim.org/entry/217080"">217080</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19200525"">19200525</a> (descritpion, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene)"">gene)</a>
 著者        Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF
 タイトル      Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
 雑誌        Am J Hum Genet 84:266-73 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.01.009"">10.1016/j.ajhg.2009.01.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20706282"">20706282</a>
 著者        Jalili IK
 タイトル      Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
 雑誌        Eye (Lond) 24:1659-68 (2010)
 DOI:<a href=""https://doi.org/10.1038/eye.2010.103"">10.1038/eye.2010.103</a>"
H01016,原発性胆汁酸吸収不良,,,"This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption (PBAM).",消化器系疾患,,"(PBAM1) SLC10A2 [HSA:6555] [KO:K14342]
 (PBAM2) SLC51B [HSA:123264] [KO:K14361]",,,,,"FGF19, produced in the ileum in response to bile acid absorption, regulates hepatic bile acid synthesis.","ICD-11: DA96.02
 MeSH: C567652
 OMIM: 613291 619481","PMID:19426836
 著者        Walters JR, Tasleem AM, Omer OS, Brydon WG, Dew T, le Roux CW
 タイトル      A new mechanism for bile acid diarrhea: defective feedback inhibition of bile acid biosynthesis.
 雑誌        Clin Gastroenterol Hepatol 7:1189-94 (2009)
 DOI:10.1016/j.cgh.2009.04.024
 PMID:9109432 (SLC10A2)
 著者        Oelkers P, Kirby LC, Heubi JE, Dawson PA
 タイトル      Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
 雑誌        J Clin Invest 99:1880-7 (1997)
 DOI:10.1172/JCI119355
 PMID:28898457 (SLC51B)
 著者        Sultan M, Rao A, Elpeleg O, Vaz FM, Abu-Libdeh B, Karpen SJ, Dawson PA
 タイトル      Organic solute transporter-beta (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
 雑誌        Hepatology 68:590-598 (2018)
 DOI:10.1002/hep.29516","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01016"">H01016</a>",原発性胆汁酸吸収不良,"This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption (PBAM).",,"(PBAM1) SLC10A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6555"">6555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14342"">K14342</a>]
 (PBAM2) SLC51B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:123264"">123264</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14361"">K14361</a>]",,,,,"FGF19, produced in the ileum in response to bile acid absorption, regulates hepatic bile acid synthesis.","ICD-11: DA96.02
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567652"">C567652</a>
 OMIM: <a href=""https://www.omim.org/entry/613291"">613291</a> <a href=""https://www.omim.org/entry/619481"">619481</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19426836"">19426836</a>
 著者        Walters JR, Tasleem AM, Omer OS, Brydon WG, Dew T, le Roux CW
 タイトル      A new mechanism for bile acid diarrhea: defective feedback inhibition of bile acid biosynthesis.
 雑誌        Clin Gastroenterol Hepatol 7:1189-94 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cgh.2009.04.024"">10.1016/j.cgh.2009.04.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9109432"">9109432</a> (SLC10A2)
 著者        Oelkers P, Kirby LC, Heubi JE, Dawson PA
 タイトル      Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
 雑誌        J Clin Invest 99:1880-7 (1997)
 DOI:<a href=""https://doi.org/10.1172/JCI119355"">10.1172/JCI119355</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28898457"">28898457</a> (SLC51B)
 著者        Sultan M, Rao A, Elpeleg O, Vaz FM, Abu-Libdeh B, Karpen SJ, Dawson PA
 タイトル      Organic solute transporter-beta (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
 雑誌        Hepatology 68:590-598 (2018)
 DOI:<a href=""https://doi.org/10.1002/hep.29516"">10.1002/hep.29516</a>"
H01017,後鼻孔閉鎖症 および リンパ浮腫,,,"Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of chanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis.",先天奇形,,PTPN14 [HSA:5784] [KO:K18025],,,,,,"ICD-11: LA70.2 BD93.0
 ICD-10: Q82.0
 MeSH: D002754 D008209
 OMIM: 613611","PMID:1872518
 著者        Har-El G, Borderon ML, Weiss MH
 タイトル      Choanal atresia and lymphedema.
 雑誌        Ann Otol Rhinol Laryngol 100:661-4 (1991)
 DOI:10.1177/000348949110000812
 PMID:20826270
 著者        Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA
 タイトル      Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.
 雑誌        Am J Hum Genet 87:436-44 (2010)
 DOI:10.1016/j.ajhg.2010.08.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01017"">H01017</a>",後鼻孔閉鎖症 および リンパ浮腫,"Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of chanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis.",,"PTPN14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5784"">5784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18025"">K18025</a>]",,,,,,"ICD-11: LA70.2 BD93.0
 ICD-10: Q82.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002754"">D002754</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008209"">D008209</a>
 OMIM: <a href=""https://www.omim.org/entry/613611"">613611</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1872518"">1872518</a>
 著者        Har-El G, Borderon ML, Weiss MH
 タイトル      Choanal atresia and lymphedema.
 雑誌        Ann Otol Rhinol Laryngol 100:661-4 (1991)
 DOI:<a href=""https://doi.org/10.1177/000348949110000812"">10.1177/000348949110000812</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20826270"">20826270</a>
 著者        Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA
 タイトル      Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.
 雑誌        Am J Hum Genet 87:436-44 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.008"">10.1016/j.ajhg.2010.08.008</a>"
H01018,Metachondromatosis,,,"Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in the digits and tend to grow toward the joint. MC exostoses may regress or even resolve over time.",先天奇形,,PTPN11 [HSA:5781] [KO:K07293],,,,,,"ICD-11: LD24.2Y
 ICD-10: Q78.8
 MeSH: C562938
 OMIM: 156250","PMID:21533187
 著者        Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafe L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovee JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML
 タイトル      Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
 雑誌        PLoS Genet 7:e1002050 (2011)
 DOI:10.1371/journal.pgen.1002050
 PMID:6602353
 著者        Kennedy LA
 タイトル      Metachondromatosis.
 雑誌        Radiology 148:117-8 (1983)
 DOI:10.1148/radiology.148.1.6602353
 PMID:20577567
 著者        Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB
 タイトル      Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
 雑誌        PLoS Genet 6:e1000991 (2010)
 DOI:10.1371/journal.pgen.1000991","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01018"">H01018</a>",Metachondromatosis,"Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in the digits and tend to grow toward the joint. MC exostoses may regress or even resolve over time.",,"PTPN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]",,,,,,"ICD-11: LD24.2Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562938"">C562938</a>
 OMIM: <a href=""https://www.omim.org/entry/156250"">156250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21533187"">21533187</a>
 著者        Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafe L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovee JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML
 タイトル      Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
 雑誌        PLoS Genet 7:e1002050 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002050"">10.1371/journal.pgen.1002050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6602353"">6602353</a>
 著者        Kennedy LA
 タイトル      Metachondromatosis.
 雑誌        Radiology 148:117-8 (1983)
 DOI:<a href=""https://doi.org/10.1148/radiology.148.1.6602353"">10.1148/radiology.148.1.6602353</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20577567"">20577567</a>
 著者        Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB
 タイトル      Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
 雑誌        PLoS Genet 6:e1000991 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1000991"">10.1371/journal.pgen.1000991</a>"
H01019,カテコールアミン誘発性多形性心室頻拍,,,Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as syncope and sudden death and can be caused by mutations in the cardiac ryanodine receptor gene (RYR2) accounting for an autosomal dominant form (CPVT1) or mutations in the cardiac calsequestrin gene CASQ2 accounting for an autosomal recessive form (CPVT2).,循環器系疾患,,"(CPVT1) RYR2 [HSA:6262] [KO:K04962]
 (CPVT2) CASQ2 [HSA:845] [KO:K23445]
 (CPVT3) TECRL [HSA:253017] [KO:K24219]
 (CPVT4) CALM1 [HSA:801] [KO:K02183]
 (CPVT5) TRDN [HSA:10345] [KO:K23449]
 (CPVT6) CALM3 [HSA:808] [KO:K02183]",,,,,,"ICD-11: BC65.5
 ICD-10: I47.2
 OMIM: 604772 611938 614021 614916 615441 618782","PMID:22119737
 著者        Pflaumer A, Davis AM
 タイトル      Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia.
 雑誌        Heart Lung Circ 21:96-100 (2012)
 DOI:10.1016/j.hlc.2011.10.008
 PMID:17497254
 著者        Liu N, Colombi B, Raytcheva-Buono EV, Bloise R, Priori SG
 タイトル      Catecholaminergic polymorphic ventricular tachycardia.
 雑誌        Herz 32:212-7 (2007)
 DOI:10.1007/s00059-007-2975-2
 PMID:19068246
 著者        Katz G, Arad M, Eldar M
 タイトル      Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
 雑誌        Curr Probl Cardiol 34:9-43 (2009)
 DOI:10.1016/j.cpcardiol.2008.09.002
 PMID:11208676 (RYR2)
 著者        Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA
 タイトル      Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.
 雑誌        Circulation 103:196-200 (2001)
 DOI:10.1161/01.cir.103.2.196
 PMID:11704930 (CASQ2)
 著者        Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M
 タイトル      A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in  Bedouin families from Israel.
 雑誌        Am J Hum Genet 69:1378-84 (2001)
 DOI:10.1086/324565
 PMID:27861123 (TECRL)
 著者        Devalla HD, Gelinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, Chaix MA, Tadros R, Jiang H, Le Bechec A, Monshouwer-Kloots JJ, Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M, Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA, Rivard L, Wilde AA, Talajic M, Verkerk AO, Al-Gazali L, Rioux JD, Bhuiyan ZA, Passier R
 タイトル      TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
 雑誌        EMBO Mol Med 8:1390-1408 (2016)
 DOI:10.15252/emmm.201505719
 PMID:23040497 (CALM1)
 著者        Nyegaard M, Overgaard MT, Sondergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Borglum AD
 タイトル      Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
 雑誌        Am J Hum Genet 91:703-12 (2012)
 DOI:10.1016/j.ajhg.2012.08.015
 PMID:22422768 (TRDN)
 著者        Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I
 タイトル      Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
 雑誌        Hum Mol Genet 21:2759-67 (2012)
 DOI:10.1093/hmg/dds104
 PMID:27516456 (CALM3)
 著者        Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC
 タイトル      Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
 雑誌        Circ Arrhythm Electrophysiol 9:e004161 (2016)
 DOI:10.1161/CIRCEP.116.004161","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01019"">H01019</a>",カテコールアミン誘発性多形性心室頻拍,Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as syncope and sudden death and can be caused by mutations in the cardiac ryanodine receptor gene (RYR2) accounting for an autosomal dominant form (CPVT1) or mutations in the cardiac calsequestrin gene CASQ2 accounting for an autosomal recessive form (CPVT2).,,"(CPVT1) RYR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6262"">6262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04962"">K04962</a>]
 (CPVT2) CASQ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:845"">845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23445"">K23445</a>]
 (CPVT3) TECRL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:253017"">253017</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24219"">K24219</a>]
 (CPVT4) CALM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:801"">801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02183"">K02183</a>]
 (CPVT5) TRDN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10345"">10345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23449"">K23449</a>]
 (CPVT6) CALM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:808"">808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02183"">K02183</a>]",,,,,,"ICD-11: BC65.5
 ICD-10: I47.2
 OMIM: <a href=""https://www.omim.org/entry/604772"">604772</a> <a href=""https://www.omim.org/entry/611938"">611938</a> <a href=""https://www.omim.org/entry/614021"">614021</a> <a href=""https://www.omim.org/entry/614916"">614916</a> <a href=""https://www.omim.org/entry/615441"">615441</a> <a href=""https://www.omim.org/entry/618782"">618782</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22119737"">22119737</a>
 著者        Pflaumer A, Davis AM
 タイトル      Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia.
 雑誌        Heart Lung Circ 21:96-100 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.hlc.2011.10.008"">10.1016/j.hlc.2011.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17497254"">17497254</a>
 著者        Liu N, Colombi B, Raytcheva-Buono EV, Bloise R, Priori SG
 タイトル      Catecholaminergic polymorphic ventricular tachycardia.
 雑誌        Herz 32:212-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00059-007-2975-2"">10.1007/s00059-007-2975-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19068246"">19068246</a>
 著者        Katz G, Arad M, Eldar M
 タイトル      Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
 雑誌        Curr Probl Cardiol 34:9-43 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.cpcardiol.2008.09.002"">10.1016/j.cpcardiol.2008.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11208676"">11208676</a> (RYR2)
 著者        Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA
 タイトル      Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.
 雑誌        Circulation 103:196-200 (2001)
 DOI:<a href=""https://doi.org/10.1161/01.cir.103.2.196"">10.1161/01.cir.103.2.196</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11704930"">11704930</a> (CASQ2)
 著者        Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M
 タイトル      A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in  Bedouin families from Israel.
 雑誌        Am J Hum Genet 69:1378-84 (2001)
 DOI:<a href=""https://doi.org/10.1086/324565"">10.1086/324565</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27861123"">27861123</a> (TECRL)
 著者        Devalla HD, Gelinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, Chaix MA, Tadros R, Jiang H, Le Bechec A, Monshouwer-Kloots JJ, Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M, Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA, Rivard L, Wilde AA, Talajic M, Verkerk AO, Al-Gazali L, Rioux JD, Bhuiyan ZA, Passier R
 タイトル      TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
 雑誌        EMBO Mol Med 8:1390-1408 (2016)
 DOI:<a href=""https://doi.org/10.15252/emmm.201505719"">10.15252/emmm.201505719</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23040497"">23040497</a> (CALM1)
 著者        Nyegaard M, Overgaard MT, Sondergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Borglum AD
 タイトル      Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
 雑誌        Am J Hum Genet 91:703-12 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.015"">10.1016/j.ajhg.2012.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22422768"">22422768</a> (TRDN)
 著者        Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I
 タイトル      Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
 雑誌        Hum Mol Genet 21:2759-67 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds104"">10.1093/hmg/dds104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27516456"">27516456</a> (CALM3)
 著者        Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC
 タイトル      Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
 雑誌        Circ Arrhythm Electrophysiol 9:e004161 (2016)
 DOI:<a href=""https://doi.org/10.1161/CIRCEP.116.004161"">10.1161/CIRCEP.116.004161</a>"
H01020,"視神経萎縮症
 下位グループ    レーバー遺伝性視神経萎縮症 およびジストニア [DS:H01365]",,,"Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare.",神経系疾患,,"(OPA1) OPA1 [HSA:4976] [KO:K17079]
 (OPA3) OPA3 [HSA:80207] [KO:K23166]
 (OPA5) DNM1L [HSA:10059] [KO:K17065]
 (OPA7) TMEM126A [HSA:84233] [KO:K18157]
 (OPA9) ACO2 [HSA:50] [KO:K01681]
 (OPA10) RTN4IP1 [HSA:84816] [KO:K23164]
 (OPA11) YME1L1 [HSA:10730] [KO:K08955]
 (OPA12) AFG3L2 [HSA:10939] [KO:K08956]
 (OPA13) SSBP1 [HSA:6742] [KO:K03111]",,,,,,"ICD-11: 9C40.B0
 ICD-10: H47.2
 MeSH: D029241
 OMIM: 165500 125250 165300 610708 612989 616289 616732 617302 618977 165510","PMID:21112411
 著者        Yu-Wai-Man P, Griffiths PG, Chinnery PF
 タイトル      Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
 雑誌        Prog Retin Eye Res 30:81-114 (2011)
 DOI:10.1016/j.preteyeres.2010.11.002
 PMID:19268652
 著者        Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA
 タイトル      Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
 雑誌        Biochim Biophys Acta 1787:518-28 (2009)
 DOI:10.1016/j.bbabio.2009.02.024
 PMID:21731710
 著者        Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA
 タイトル      Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.
 雑誌        PLoS One 6:e21347 (2011)
 DOI:10.1371/journal.pone.0021347
 PMID:22815638
 著者        Desir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M
 タイトル      TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
 雑誌        Mol Vis 18:1849-57 (2012)
 PMID:19327736
 著者        Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM
 タイトル      TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
 雑誌        Am J Hum Genet 84:493-8 (2009)
 DOI:10.1016/j.ajhg.2009.03.003
 PMID:18222990 (OPA1 plus syndrome)
 著者        Zeviani M
 タイトル      OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape.
 雑誌        Brain 131:314-7 (2008)
 DOI:10.1093/brain/awm339
 PMID:28969390
 著者        Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G
 タイトル      Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
 雑誌        Brain 140:2586-2596 (2017)
 DOI:10.1093/brain/awx219
 PMID:25351951
 著者        Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C
 タイトル      Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
 雑誌        J Med Genet 51:834-8 (2014)
 DOI:10.1136/jmedgenet-2014-102532
 PMID:26593267
 著者        Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G
 タイトル      Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
 雑誌        Am J Hum Genet 97:754-60 (2015)
 DOI:10.1016/j.ajhg.2015.09.012
 PMID:27495975
 著者        Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM
 タイトル      Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
 雑誌        Elife 5:e16078 (2016)
 DOI:10.7554/eLife.16078
 PMID:32219868
 著者        Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schols L, Schule R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F
 タイトル      ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
 雑誌        Ann Neurol 88:18-32 (2020)
 DOI:10.1002/ana.25723
 PMID:31550240
 著者        Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V
 タイトル      SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
 雑誌        J Clin Invest 130:108-125 (2020)
 DOI:10.1172/JCI128514","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01020"">H01020</a>","視神経萎縮症
 下位グループ    レーバー遺伝性視神経萎縮症 およびジストニア [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01365"">H01365</a>]","Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare.",,"(OPA1) OPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4976"">4976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17079"">K17079</a>]
 (OPA3) OPA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80207"">80207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23166"">K23166</a>]
 (OPA5) DNM1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10059"">10059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17065"">K17065</a>]
 (OPA7) TMEM126A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84233"">84233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18157"">K18157</a>]
 (OPA9) ACO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50"">50</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01681"">K01681</a>]
 (OPA10) RTN4IP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84816"">84816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23164"">K23164</a>]
 (OPA11) YME1L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10730"">10730</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08955"">K08955</a>]
 (OPA12) AFG3L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10939"">10939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08956"">K08956</a>]
 (OPA13) SSBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6742"">6742</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03111"">K03111</a>]",,,,,,"ICD-11: 9C40.B0
 ICD-10: H47.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029241"">D029241</a>
 OMIM: <a href=""https://www.omim.org/entry/165500"">165500</a> <a href=""https://www.omim.org/entry/125250"">125250</a> <a href=""https://www.omim.org/entry/165300"">165300</a> <a href=""https://www.omim.org/entry/610708"">610708</a> <a href=""https://www.omim.org/entry/612989"">612989</a> <a href=""https://www.omim.org/entry/616289"">616289</a> <a href=""https://www.omim.org/entry/616732"">616732</a> <a href=""https://www.omim.org/entry/617302"">617302</a> <a href=""https://www.omim.org/entry/618977"">618977</a> <a href=""https://www.omim.org/entry/165510"">165510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21112411"">21112411</a>
 著者        Yu-Wai-Man P, Griffiths PG, Chinnery PF
 タイトル      Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
 雑誌        Prog Retin Eye Res 30:81-114 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.preteyeres.2010.11.002"">10.1016/j.preteyeres.2010.11.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19268652"">19268652</a>
 著者        Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA
 タイトル      Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
 雑誌        Biochim Biophys Acta 1787:518-28 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbabio.2009.02.024"">10.1016/j.bbabio.2009.02.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21731710"">21731710</a>
 著者        Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA
 タイトル      Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.
 雑誌        PLoS One 6:e21347 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0021347"">10.1371/journal.pone.0021347</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22815638"">22815638</a>
 著者        Desir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M
 タイトル      TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
 雑誌        Mol Vis 18:1849-57 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19327736"">19327736</a>
 著者        Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM
 タイトル      TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
 雑誌        Am J Hum Genet 84:493-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.003"">10.1016/j.ajhg.2009.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18222990"">18222990</a> (OPA1 <a href=""https://pubmed.ncbi.nlm.nih.gov/plus"">plus</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/syndrome)"">syndrome)</a>
 著者        Zeviani M
 タイトル      OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape.
 雑誌        Brain 131:314-7 (2008)
 DOI:<a href=""https://doi.org/10.1093/brain/awm339"">10.1093/brain/awm339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28969390"">28969390</a>
 著者        Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G
 タイトル      Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
 雑誌        Brain 140:2586-2596 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx219"">10.1093/brain/awx219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25351951"">25351951</a>
 著者        Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C
 タイトル      Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
 雑誌        J Med Genet 51:834-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102532"">10.1136/jmedgenet-2014-102532</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26593267"">26593267</a>
 著者        Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G
 タイトル      Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
 雑誌        Am J Hum Genet 97:754-60 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.09.012"">10.1016/j.ajhg.2015.09.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27495975"">27495975</a>
 著者        Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM
 タイトル      Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
 雑誌        Elife 5:e16078 (2016)
 DOI:<a href=""https://doi.org/10.7554/eLife.16078"">10.7554/eLife.16078</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32219868"">32219868</a>
 著者        Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schols L, Schule R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F
 タイトル      ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
 雑誌        Ann Neurol 88:18-32 (2020)
 DOI:<a href=""https://doi.org/10.1002/ana.25723"">10.1002/ana.25723</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31550240"">31550240</a>
 著者        Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V
 タイトル      SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
 雑誌        J Clin Invest 130:108-125 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI128514"">10.1172/JCI128514</a>"
H01021,Rhodococcus equi 感染,,,"Rhodococcus equi is an aerobic, gram-positive bacillus. R. equi infection is rare in humans, but it can cause potentially fatal disease in immunocompromised patients. Although the clinical spectrum of R. equi infection is broad, pulmonary involvement is a predominant feature in most cases.",感染症,,,Rhodococcus equi [GN:req],,,,,,"PMID:20954468
 著者        Guyssens V, Vandekerckhove L, Colle I, De Rudder P, Blots S, Vogelaers D
 タイトル      Invasive infection with Rhodococcus equi--two case reports and review of literature.
 雑誌        Acta Clin Belg 65:271-5 (2010)
 DOI:10.1179/acb.2010.058
 PMID:20417417
 著者        Yamshchikov AV, Schuetz A, Lyon GM
 タイトル      Rhodococcus equi infection.
 雑誌        Lancet Infect Dis 10:350-9 (2010)
 DOI:10.1016/S1473-3099(10)70068-2
 PMID:1810733
 著者        Vestbo J, Lundgren JD, Gaub J, Roder B, Gutschik E
 タイトル      Severe Rhodococcus equi pneumonia: case report and literature review.
 雑誌        Eur J Clin Microbiol Infect Dis 10:762-8 (1991)
 DOI:10.1007/BF01972506","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01021"">H01021</a>",Rhodococcus equi 感染,"Rhodococcus equi is an aerobic, gram-positive bacillus. R. equi infection is rare in humans, but it can cause potentially fatal disease in immunocompromised patients. Although the clinical spectrum of R. equi infection is broad, pulmonary involvement is a predominant feature in most cases.",,,"Rhodococcus equi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:req"">req</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20954468"">20954468</a>
 著者        Guyssens V, Vandekerckhove L, Colle I, De Rudder P, Blots S, Vogelaers D
 タイトル      Invasive infection with Rhodococcus equi--two case reports and review of literature.
 雑誌        Acta Clin Belg 65:271-5 (2010)
 DOI:<a href=""https://doi.org/10.1179/acb.2010.058"">10.1179/acb.2010.058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20417417"">20417417</a>
 著者        Yamshchikov AV, Schuetz A, Lyon GM
 タイトル      Rhodococcus equi infection.
 雑誌        Lancet Infect Dis 10:350-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(10)70068-2"">10.1016/S1473-3099(10)70068-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1810733"">1810733</a>
 著者        Vestbo J, Lundgren JD, Gaub J, Roder B, Gutschik E
 タイトル      Severe Rhodococcus equi pneumonia: case report and literature review.
 雑誌        Eur J Clin Microbiol Infect Dis 10:762-8 (1991)
 DOI:<a href=""https://doi.org/10.1007/BF01972506"">10.1007/BF01972506</a>"
H01022,"TCA回路の異常
 下位グループ    フマラーゼ欠損症 [DS:H02004]
 コハク酸脱水素酵素欠損症 [DS:H02005]
 α ケトグルタル酸脱水素酵素欠損症 [DS:H02006]
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency affects mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood.",先天性代謝異常症,,"(FH) FH [HSA:2271] [KO:K01679]
 (SDH) SDHA [HSA:6389] [KO:K00234]
 (AKGDH) OGDH [HSA:4967] [KO:K00164]",,,,,Succinate dehydrogenase deficiency is also included in mitochondrial respiratory chain deficiencies. [DS:H00473],"ICD-11: 5C53.1
 ICD-10: E88.8
 MeSH: C538191 C565375 C536582
 OMIM: 606812 252011 203740","PMID:21714867
 著者        Smith AC, Robinson AJ
 タイトル      A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.
 雑誌        BMC Syst Biol 5:102 (2011)
 DOI:10.1186/1752-0509-5-102
 PMID:9300800
 著者        Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A
 タイトル      Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
 雑誌        Biochim Biophys Acta 1361:185-97 (1997)
 DOI:10.1016/S0925-4439(97)00035-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>","TCA回路の異常
 下位グループ    フマラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02004"">H02004</a>]
 コハク酸脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02005"">H02005</a>]
 α ケトグルタル酸脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02006"">H02006</a>]
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency affects mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood.",,"(FH) FH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]
 (SDH) SDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6389"">6389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00234"">K00234</a>]
 (AKGDH) OGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4967"">4967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00164"">K00164</a>]",,,,,"Succinate dehydrogenase deficiency is also included in mitochondrial respiratory chain deficiencies. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00473"">H00473</a>]","ICD-11: 5C53.1
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538191"">C538191</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565375"">C565375</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536582"">C536582</a>
 OMIM: <a href=""https://www.omim.org/entry/606812"">606812</a> <a href=""https://www.omim.org/entry/252011"">252011</a> <a href=""https://www.omim.org/entry/203740"">203740</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21714867"">21714867</a>
 著者        Smith AC, Robinson AJ
 タイトル      A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.
 雑誌        BMC Syst Biol 5:102 (2011)
 DOI:<a href=""https://doi.org/10.1186/1752-0509-5-102"">10.1186/1752-0509-5-102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9300800"">9300800</a>
 著者        Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A
 タイトル      Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
 雑誌        Biochim Biophys Acta 1361:185-97 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(97)00035-5"">10.1016/S0925-4439(97)00035-5</a>"
H01023,若年性ポリポーシス症候群,,,"Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway.",,,"SMAD4 [HSA:4089] [KO:K04501]
 BMPR1A [HSA:657] [KO:K04673]",,,,,,"ICD-11: 2E92.40
 ICD-10: D12.6
 MeSH: C537702
 OMIM: 174900","PMID:22171123
 著者        Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
 タイトル      Juvenile polyposis syndrome.
 雑誌        World J Gastroenterol 17:4839-44 (2011)
 DOI:10.3748/wjg.v17.i44.4839","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01023"">H01023</a>",若年性ポリポーシス症候群,"Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway.",,"SMAD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4089"">4089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04501"">K04501</a>]
 BMPR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:657"">657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04673"">K04673</a>]",,,,,,"ICD-11: 2E92.40
 ICD-10: D12.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537702"">C537702</a>
 OMIM: <a href=""https://www.omim.org/entry/174900"">174900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22171123"">22171123</a>
 著者        Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
 タイトル      Juvenile polyposis syndrome.
 雑誌        World J Gastroenterol 17:4839-44 (2011)
 DOI:<a href=""https://doi.org/10.3748/wjg.v17.i44.4839"">10.3748/wjg.v17.i44.4839</a>"
H01024,遺伝性混合ポリポーシス症候群,,,"Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS is linked to mutations in the BMPR1A gene.",消化器系疾患,,BMPR1A [HSA:657] [KO:K04673],,,,,,"ICD-11: 2E92.40
 MeSH: C563365 C566451
 OMIM: 610069","PMID:19438883
 著者        O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC
 タイトル      Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
 雑誌        Colorectal Dis 12:570-3 (2010)
 DOI:10.1111/j.1463-1318.2009.01931.x
 PMID:16525031
 著者        Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY
 タイトル      Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
 雑誌        J Med Genet 43:e13 (2006)
 DOI:10.1136/jmg.2005.034827","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01024"">H01024</a>",遺伝性混合ポリポーシス症候群,"Hereditary mixed polyposis syndrome (HMPS) is a rare condition characterized by mixed hyperplastic, adenomatous and juvenile polyps and is associated with an increased risk of colorectal carcinoma. HMPS is linked to mutations in the BMPR1A gene.",,"BMPR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:657"">657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04673"">K04673</a>]",,,,,,"ICD-11: 2E92.40
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563365"">C563365</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566451"">C566451</a>
 OMIM: <a href=""https://www.omim.org/entry/610069"">610069</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19438883"">19438883</a>
 著者        O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC
 タイトル      Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
 雑誌        Colorectal Dis 12:570-3 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1463-1318.2009.01931.x"">10.1111/j.1463-1318.2009.01931.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16525031"">16525031</a>
 著者        Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY
 タイトル      Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
 雑誌        J Med Genet 43:e13 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.034827"">10.1136/jmg.2005.034827</a>"
H01025,"家族性大腸ポリポーシス
 上位グループ    結腸・直腸癌 [DS:H00020]
 固形腫瘍 [DS:H02421]",,,"Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.",消化器系疾患,,"(FAP1) APC [HSA:324] [KO:K02085]
 (FAP2) MUTYH [HSA:4595] [KO:K03575]
 (FAP3) NTHL1 [HSA:4913] [KO:K10773]
 (FAP4) MSH3 [HSA:4437] [KO:K08736]",,,,,,"ICD-11: 2E92.4
 ICD-10: D12.6
 MeSH: D011125
 OMIM: 175100 608456 616415 617100","PMID:19822006 (FAP1_2)
 著者        Half E, Bercovich D, Rozen P
 タイトル      Familial adenomatous polyposis.
 雑誌        Orphanet J Rare Dis 4:22 (2009)
 DOI:10.1186/1750-1172-4-22
 PMID:21884696 (FAP1)
 著者        Burgess AW, Faux MC, Layton MJ, Ramsay RG
 タイトル      Wnt signaling and colon tumorigenesis--a view from the periphery.
 雑誌        Exp Cell Res 317:2748-58 (2011)
 DOI:10.1016/j.yexcr.2011.08.010
 PMID:33087284 (FAP3)
 著者        Das L, Quintana VG, Sweasy JB
 タイトル      NTHL1 in genomic integrity, aging and cancer.
 雑誌        DNA Repair (Amst) 93:102920 (2020)
 DOI:10.1016/j.dnarep.2020.102920
 PMID:27476653 (FAP4)
 著者        Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S
 タイトル      Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
 雑誌        Am J Hum Genet 99:337-51 (2016)
 DOI:10.1016/j.ajhg.2016.06.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01025"">H01025</a>","家族性大腸ポリポーシス
 上位グループ    結腸・直腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.",,"(FAP1) APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 (FAP2) MUTYH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4595"">4595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03575"">K03575</a>]
 (FAP3) NTHL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4913"">4913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10773"">K10773</a>]
 (FAP4) MSH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4437"">4437</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08736"">K08736</a>]",,,,,,"ICD-11: 2E92.4
 ICD-10: D12.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011125"">D011125</a>
 OMIM: <a href=""https://www.omim.org/entry/175100"">175100</a> <a href=""https://www.omim.org/entry/608456"">608456</a> <a href=""https://www.omim.org/entry/616415"">616415</a> <a href=""https://www.omim.org/entry/617100"">617100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19822006"">19822006</a> (FAP1_2)
 著者        Half E, Bercovich D, Rozen P
 タイトル      Familial adenomatous polyposis.
 雑誌        Orphanet J Rare Dis 4:22 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-22"">10.1186/1750-1172-4-22</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21884696"">21884696</a> (FAP1)
 著者        Burgess AW, Faux MC, Layton MJ, Ramsay RG
 タイトル      Wnt signaling and colon tumorigenesis--a view from the periphery.
 雑誌        Exp Cell Res 317:2748-58 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.yexcr.2011.08.010"">10.1016/j.yexcr.2011.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33087284"">33087284</a> (FAP3)
 著者        Das L, Quintana VG, Sweasy JB
 タイトル      NTHL1 in genomic integrity, aging and cancer.
 雑誌        DNA Repair (Amst) 93:102920 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.dnarep.2020.102920"">10.1016/j.dnarep.2020.102920</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476653"">27476653</a> (FAP4)
 著者        Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S
 タイトル      Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
 雑誌        Am J Hum Genet 99:337-51 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.015"">10.1016/j.ajhg.2016.06.015</a>"
H01026,腎コロボーマ症候群,,,"Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.",先天奇形,,PAX2 [HSA:5076] [KO:K15608],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q60.4
 MeSH: C537168
 OMIM: 120330","PMID:22213154
 著者        Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L
 タイトル      Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
 雑誌        Hum Mutat 33:457-66 (2012)
 DOI:10.1002/humu.22020
 PMID:21654726
 著者        Schimmenti LA
 タイトル      Renal coloboma syndrome.
 雑誌        Eur J Hum Genet 19:1207-12 (2011)
 DOI:10.1038/ejhg.2011.102","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01026"">H01026</a>",腎コロボーマ症候群,"Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.",,"PAX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5076"">5076</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15608"">K15608</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q60.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537168"">C537168</a>
 OMIM: <a href=""https://www.omim.org/entry/120330"">120330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22213154"">22213154</a>
 著者        Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L
 タイトル      Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
 雑誌        Hum Mutat 33:457-66 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22020"">10.1002/humu.22020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21654726"">21654726</a>
 著者        Schimmenti LA
 タイトル      Renal coloboma syndrome.
 雑誌        Eur J Hum Genet 19:1207-12 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2011.102"">10.1038/ejhg.2011.102</a>"
H01027,"小眼球症
 下位グループ    無眼球症
 孤発性小眼球症 (MCOP)
 コロボーマを伴う小眼球症 (MCPCB)",,,"Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Coloboma, or a defect in the closure of the choroid fissure, is most common ocular malformation associated with microphthalmia. Coloboma is considered to be part of the A/M spectrum. A/M can be isolated, associated other anomalies or part of a well defined syndrome. A/M have complex aetiology with chromosomal, monogenic and environmental causes identified.",先天奇形,,"(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336]
 (MCOP3) RAX [HSA:30062] [KO:K09332]
 (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012]
 (MCOP5) MFRP [HSA:83552] [KO:K24359]
 (MCOP6) PRSS56 [HSA:646960] [KO:K23440]
 (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672]
 (MCOP8) ALDH1A3 [HSA:220] [KO:K07249]
 (MCOPCB5) SHH [HSA:6469] [KO:K11988]
 (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661]
 (MCOPCB8) STRA6 [HSA:64220] [KO:K23088]
 (MCOPCB9) TENM3 [HSA:55714] [KO:K24473]
 (MCOPCB10) RBP4 [HSA:5950] [KO:K18271]",,,,,,"ICD-11: LA10.0
 ICD-10: Q11
 MeSH: D008850
 OMIM: 251600 610093 611038 613094 611040 613517 613704 615113 300345 610092 611638 613703 614497 601186 615145 616428","PMID:22005280
 著者        Slavotinek AM
 タイトル      Eye development genes and known syndromes.
 雑誌        Mol Genet Metab 104:448-56 (2011)
 DOI:10.1016/j.ymgme.2011.09.029
 PMID:21825993
 著者        Bardakjian TM, Schneider A
 タイトル      The genetics of anophthalmia and microphthalmia.
 雑誌        Curr Opin Ophthalmol 22:309-13 (2011)
 DOI:10.1097/ICU.0b013e328349b004
 PMID:18039390 (description, gene, environmental factor)
 著者        Verma AS, Fitzpatrick DR
 タイトル      Anophthalmia and microphthalmia.
 雑誌        Orphanet J Rare Dis 2:47 (2007)
 DOI:10.1186/1750-1172-2-47
 PMID:21397065
 著者        Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T
 タイトル      Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
 雑誌        Am J Hum Genet 88:382-90 (2011)
 DOI:10.1016/j.ajhg.2011.02.006
 PMID:19864492
 著者        Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ
 タイトル      Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
 雑誌        Hum Mol Genet 19:287-98 (2010)
 DOI:10.1093/hmg/ddp496
 PMID:23312594
 著者        Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gerard X, Baumann C, Plessis G, Demeer B, Bretillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM
 タイトル      ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
 雑誌        Am J Hum Genet 92:265-70 (2013)
 DOI:10.1016/j.ajhg.2012.12.003
 PMID:22226084
 著者        Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
 タイトル      ABCB6 mutations cause ocular coloboma.
 雑誌        Am J Hum Genet 90:40-8 (2012)
 DOI:10.1016/j.ajhg.2011.11.026
 PMID:27103084
 著者        Chassaing N, Ragge N, Plaisancie J, Patat O, Genevieve D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P
 タイトル      Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
 雑誌        Am J Med Genet A 170:1895-8 (2016)
 DOI:10.1002/ajmg.a.37667
 PMID:25910211
 著者        Chou CM, Nelson C, Tarle SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T
 タイトル      Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
 雑誌        Cell 161:634-646 (2015)
 DOI:10.1016/j.cell.2015.03.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01027"">H01027</a>","小眼球症
 下位グループ    無眼球症
 孤発性小眼球症 (MCOP)
 コロボーマを伴う小眼球症 (MCPCB)","Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Coloboma, or a defect in the closure of the choroid fissure, is most common ocular malformation associated with microphthalmia. Coloboma is considered to be part of the A/M spectrum. A/M can be isolated, associated other anomalies or part of a well defined syndrome. A/M have complex aetiology with chromosomal, monogenic and environmental causes identified.",,"(MCOP2/MCOPCB3) VSX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338917"">338917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09336"">K09336</a>]
 (MCOP3) RAX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30062"">30062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09332"">K09332</a>]
 (MCOP4/MCOPCB6) GDF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:392255"">392255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20012"">K20012</a>]
 (MCOP5) MFRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83552"">83552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24359"">K24359</a>]
 (MCOP6) PRSS56 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:646960"">646960</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23440"">K23440</a>]
 (MCOP7/MCOPCB6) GDF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9573"">9573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22672"">K22672</a>]
 (MCOP8) ALDH1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:220"">220</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07249"">K07249</a>]
 (MCOPCB5) SHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6469"">6469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11988"">K11988</a>]
 (MCOPCB7) ABCB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10058"">10058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05661"">K05661</a>]
 (MCOPCB8) STRA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64220"">64220</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23088"">K23088</a>]
 (MCOPCB9) TENM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55714"">55714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24473"">K24473</a>]
 (MCOPCB10) RBP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5950"">5950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18271"">K18271</a>]",,,,,,"ICD-11: LA10.0
 ICD-10: Q11
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008850"">D008850</a>
 OMIM: <a href=""https://www.omim.org/entry/251600"">251600</a> <a href=""https://www.omim.org/entry/610093"">610093</a> <a href=""https://www.omim.org/entry/611038"">611038</a> <a href=""https://www.omim.org/entry/613094"">613094</a> <a href=""https://www.omim.org/entry/611040"">611040</a> <a href=""https://www.omim.org/entry/613517"">613517</a> <a href=""https://www.omim.org/entry/613704"">613704</a> <a href=""https://www.omim.org/entry/615113"">615113</a> <a href=""https://www.omim.org/entry/300345"">300345</a> <a href=""https://www.omim.org/entry/610092"">610092</a> <a href=""https://www.omim.org/entry/611638"">611638</a> <a href=""https://www.omim.org/entry/613703"">613703</a> <a href=""https://www.omim.org/entry/614497"">614497</a> <a href=""https://www.omim.org/entry/601186"">601186</a> <a href=""https://www.omim.org/entry/615145"">615145</a> <a href=""https://www.omim.org/entry/616428"">616428</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22005280"">22005280</a>
 著者        Slavotinek AM
 タイトル      Eye development genes and known syndromes.
 雑誌        Mol Genet Metab 104:448-56 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.09.029"">10.1016/j.ymgme.2011.09.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21825993"">21825993</a>
 著者        Bardakjian TM, Schneider A
 タイトル      The genetics of anophthalmia and microphthalmia.
 雑誌        Curr Opin Ophthalmol 22:309-13 (2011)
 DOI:<a href=""https://doi.org/10.1097/ICU.0b013e328349b004"">10.1097/ICU.0b013e328349b004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18039390"">18039390</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Verma AS, Fitzpatrick DR
 タイトル      Anophthalmia and microphthalmia.
 雑誌        Orphanet J Rare Dis 2:47 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-47"">10.1186/1750-1172-2-47</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21397065"">21397065</a>
 著者        Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T
 タイトル      Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
 雑誌        Am J Hum Genet 88:382-90 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.006"">10.1016/j.ajhg.2011.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19864492"">19864492</a>
 著者        Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ
 タイトル      Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
 雑誌        Hum Mol Genet 19:287-98 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp496"">10.1093/hmg/ddp496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23312594"">23312594</a>
 著者        Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gerard X, Baumann C, Plessis G, Demeer B, Bretillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM
 タイトル      ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
 雑誌        Am J Hum Genet 92:265-70 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.12.003"">10.1016/j.ajhg.2012.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22226084"">22226084</a>
 著者        Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
 タイトル      ABCB6 mutations cause ocular coloboma.
 雑誌        Am J Hum Genet 90:40-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.026"">10.1016/j.ajhg.2011.11.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27103084"">27103084</a>
 著者        Chassaing N, Ragge N, Plaisancie J, Patat O, Genevieve D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P
 タイトル      Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
 雑誌        Am J Med Genet A 170:1895-8 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37667"">10.1002/ajmg.a.37667</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25910211"">25910211</a>
 著者        Chou CM, Nelson C, Tarle SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T
 タイトル      Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
 雑誌        Cell 161:634-646 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2015.03.006"">10.1016/j.cell.2015.03.006</a>"
H01028,"アルギニノコハク酸尿症;
 アルギニノコハク酸分解酵素欠損症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,"Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.",先天性代謝異常症,nt06010  Urea cycle,ASL [HSA:435] [KO:K01755],,,,"L-アルギニン塩酸塩 [DR:D01126]
 L-アルギニン・L-アルギニン塩酸塩 [DR:D08754]",,"ICD-11: 5C50.A0
 ICD-10: E72.2
 MeSH: D056807
 OMIM: 207900","PMID:21290785
 著者        Nagamani SCS, Erez A, Lee B
 タイトル      Argininosuccinate Lyase Deficiency
 雑誌        GeneReviews (1993)
 PMID:20298553
 著者        Imtiaz F, Al-Sayed M, Trabzuni D, Al-Mubarak BR, Alsmadi O, Rashed MS, Meyer BF
 タイトル      Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
 雑誌        BMC Res Notes 3:79 (2010)
 DOI:10.1186/1756-0500-3-79
 PMID:11148543 (therapy)
 タイトル      Consensus statement from a conference for the management of patients with urea cycle disorders.
 雑誌        J Pediatr 138:S1-5 (2001)
 DOI:10.1067/mpd.2001.111830
 PMID:22541557 (therapy)
 著者        Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B
 タイトル      Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
 雑誌        Am J Hum Genet 90:836-46 (2012)
 DOI:10.1016/j.ajhg.2012.03.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01028"">H01028</a>","アルギニノコハク酸尿症;
 アルギニノコハク酸分解酵素欠損症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]","Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.","<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","ASL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:435"">435</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01755"">K01755</a>]",,,,"L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01126"">D01126</a>]
 L-アルギニン・L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08754"">D08754</a>]",,"ICD-11: 5C50.A0
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056807"">D056807</a>
 OMIM: <a href=""https://www.omim.org/entry/207900"">207900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21290785"">21290785</a>
 著者        Nagamani SCS, Erez A, Lee B
 タイトル      Argininosuccinate Lyase Deficiency
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20298553"">20298553</a>
 著者        Imtiaz F, Al-Sayed M, Trabzuni D, Al-Mubarak BR, Alsmadi O, Rashed MS, Meyer BF
 タイトル      Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
 雑誌        BMC Res Notes 3:79 (2010)
 DOI:<a href=""https://doi.org/10.1186/1756-0500-3-79"">10.1186/1756-0500-3-79</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11148543"">11148543</a> (therapy)
 タイトル      Consensus statement from a conference for the management of patients with urea cycle disorders.
 雑誌        J Pediatr 138:S1-5 (2001)
 DOI:<a href=""https://doi.org/10.1067/mpd.2001.111830"">10.1067/mpd.2001.111830</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22541557"">22541557</a> (therapy)
 著者        Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B
 タイトル      Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
 雑誌        Am J Hum Genet 90:836-46 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.018"">10.1016/j.ajhg.2012.03.018</a>"
H01029,先天性遺伝性扁平角膜,,,"Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the age of 20. Cornea plana congenita occurs in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. CNA2 has a high prevalence in the Finnish population due to strong founder effect.",先天奇形,,(CNA2) KERA [HSA:11081] [KO:K08123],,,,,,"ICD-11: LA11.1
 ICD-10: Q13.4
 OMIM: 217300 121400","PMID:8929947
 著者        Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A
 タイトル      The genetics of cornea plana congenita.
 雑誌        J Med Genet 33:116-9 (1996)
 DOI:10.1136/jmg.33.2.116
 PMID:9591953
 著者        Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E
 タイトル      Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.
 雑誌        Acta Ophthalmol Scand 76:196-203 (1998)
 DOI:10.1034/j.1600-0420.1998.760215.x
 PMID:9228241
 著者        Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H
 タイトル      Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.
 雑誌        Ophthalmic Genet 18:55-62 (1997)
 DOI:10.3109/13816819709057116
 PMID:10802664
 著者        Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A
 タイトル      Mutations in KERA, encoding keratocan, cause cornea plana.
 雑誌        Nat Genet 25:91-5 (2000)
 DOI:10.1038/75664","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01029"">H01029</a>",先天性遺伝性扁平角膜,"Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the age of 20. Cornea plana congenita occurs in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. CNA2 has a high prevalence in the Finnish population due to strong founder effect.",,"(CNA2) KERA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11081"">11081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08123"">K08123</a>]",,,,,,"ICD-11: LA11.1
 ICD-10: Q13.4
 OMIM: <a href=""https://www.omim.org/entry/217300"">217300</a> <a href=""https://www.omim.org/entry/121400"">121400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8929947"">8929947</a>
 著者        Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A
 タイトル      The genetics of cornea plana congenita.
 雑誌        J Med Genet 33:116-9 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.2.116"">10.1136/jmg.33.2.116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9591953"">9591953</a>
 著者        Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E
 タイトル      Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.
 雑誌        Acta Ophthalmol Scand 76:196-203 (1998)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0420.1998.760215.x"">10.1034/j.1600-0420.1998.760215.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9228241"">9228241</a>
 著者        Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H
 タイトル      Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.
 雑誌        Ophthalmic Genet 18:55-62 (1997)
 DOI:<a href=""https://doi.org/10.3109/13816819709057116"">10.3109/13816819709057116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10802664"">10802664</a>
 著者        Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A
 タイトル      Mutations in KERA, encoding keratocan, cause cornea plana.
 雑誌        Nat Genet 25:91-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/75664"">10.1038/75664</a>"
H01030,前角細胞疾患を伴う先天性関節拘縮症,,,"Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.",先天奇形,,GLE1 [HSA:2733] [KO:K18723],,,,,"Lethal congenital contracture syndrome 1 (LCCS1, H00865) is an allelic disorder of LAAHD.","ICD-11: LD2F.1Y
 ICD-10: Q68.8
 MeSH: C567502
 OMIM: 611890 253310","PMID:7821908
 著者        Vuopala K, Ignatius J, Herva R
 タイトル      Lethal arthrogryposis with anterior horn cell disease.
 雑誌        Hum Pathol 26:12-9 (1995)
 DOI:10.1016/0046-8177(95)90109-4
 PMID:18204449
 著者        Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
 タイトル      Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
 雑誌        Nat Genet 40:155-7 (2008)
 DOI:10.1038/ng.2007.65","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01030"">H01030</a>",前角細胞疾患を伴う先天性関節拘縮症,"Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.",,"GLE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2733"">2733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18723"">K18723</a>]",,,,,"Lethal congenital contracture syndrome 1 (LCCS1, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00865)"">H00865)</a> is an allelic disorder of LAAHD.","ICD-11: LD2F.1Y
 ICD-10: Q68.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567502"">C567502</a>
 OMIM: <a href=""https://www.omim.org/entry/611890"">611890</a> <a href=""https://www.omim.org/entry/253310"">253310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7821908"">7821908</a>
 著者        Vuopala K, Ignatius J, Herva R
 タイトル      Lethal arthrogryposis with anterior horn cell disease.
 雑誌        Hum Pathol 26:12-9 (1995)
 DOI:<a href=""https://doi.org/10.1016/0046-8177(95)90109-4"">10.1016/0046-8177(95)90109-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18204449"">18204449</a>
 著者        Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
 タイトル      Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
 雑誌        Nat Genet 40:155-7 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.65"">10.1038/ng.2007.65</a>"
H01031,"起立耐性失調;
 起立性頻脈症候群",,,"Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. Patients often have high plasma norepinephrine (NE) concentrations in relation to sympathetic outflow on standing. Abnormal norepinephrine transporter (NET) function is considered to contribute to the pathophysiology in some patients with OI. The impaired uptake of NE could be caused by a mutation in the SLC6A2 gene that encodes the NET.",循環器系疾患,,SLC6A2 [HSA:6530] [KO:K05035],,,,,,"ICD-11: 8D89.2
 ICD-10: I95.1
 MeSH: D054971
 OMIM: 604715","PMID:10684912
 著者        Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
 タイトル      Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
 雑誌        N Engl J Med 342:541-9 (2000)
 DOI:10.1056/NEJM200002243420803
 PMID:14987367
 著者        Tellioglu T, Robertson D
 タイトル      Genetic or acquired deficits in the norepinephrine transporter: current understanding of clinical implications.
 雑誌        Expert Rev Mol Med 2001:1-10 (2001)
 DOI:10.1017/S1462399401003878
 PMID:11458707
 著者        Robertson D, Flattem N, Tellioglu T, Carson R, Garland E, Shannon JR, Jordan J, Jacob G, Blakely RD, Biaggioni I
 タイトル      Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
 雑誌        Ann N Y Acad Sci 940:527-43 (2001)
 DOI:10.1111/j.1749-6632.2001.tb03703.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01031"">H01031</a>","起立耐性失調;
 起立性頻脈症候群","Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. Patients often have high plasma norepinephrine (NE) concentrations in relation to sympathetic outflow on standing. Abnormal norepinephrine transporter (NET) function is considered to contribute to the pathophysiology in some patients with OI. The impaired uptake of NE could be caused by a mutation in the SLC6A2 gene that encodes the NET.",,"SLC6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6530"">6530</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05035"">K05035</a>]",,,,,,"ICD-11: 8D89.2
 ICD-10: I95.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054971"">D054971</a>
 OMIM: <a href=""https://www.omim.org/entry/604715"">604715</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10684912"">10684912</a>
 著者        Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
 タイトル      Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
 雑誌        N Engl J Med 342:541-9 (2000)
 DOI:<a href=""https://doi.org/10.1056/NEJM200002243420803"">10.1056/NEJM200002243420803</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14987367"">14987367</a>
 著者        Tellioglu T, Robertson D
 タイトル      Genetic or acquired deficits in the norepinephrine transporter: current understanding of clinical implications.
 雑誌        Expert Rev Mol Med 2001:1-10 (2001)
 DOI:<a href=""https://doi.org/10.1017/S1462399401003878"">10.1017/S1462399401003878</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11458707"">11458707</a>
 著者        Robertson D, Flattem N, Tellioglu T, Carson R, Garland E, Shannon JR, Jordan J, Jacob G, Blakely RD, Biaggioni I
 タイトル      Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
 雑誌        Ann N Y Acad Sci 940:527-43 (2001)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2001.tb03703.x"">10.1111/j.1749-6632.2001.tb03703.x</a>"
H01032,"N-アセチルグルタミン酸合成酵素欠損症;
 NAGS欠損症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,"N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma.",,nt06010  Urea cycle,NAGS [HSA:162417] [KO:K11067],,,,カルグルミン酸 [DR:D07130],,"ICD-11: 5C50.AY
 ICD-10: E72.2
 MeSH: C536109
 OMIM: 237310","PMID:20303810
 著者        Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M
 タイトル      N-acetylglutamate synthase: structure, function and defects.
 雑誌        Mol Genet Metab 100 Suppl 1:S13-9 (2010)
 DOI:10.1016/j.ymgme.2010.02.018
 PMID:21941437
 著者        Haberle J
 タイトル      Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
 雑誌        Ther Clin Risk Manag 7:327-32 (2011)
 DOI:10.2147/TCRM.S12703","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01032"">H01032</a>","N-アセチルグルタミン酸合成酵素欠損症;
 NAGS欠損症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]","N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma.","<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","NAGS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:162417"">162417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11067"">K11067</a>]",,,,"カルグルミン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07130"">D07130</a>]",,"ICD-11: 5C50.AY
 ICD-10: E72.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536109"">C536109</a>
 OMIM: <a href=""https://www.omim.org/entry/237310"">237310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20303810"">20303810</a>
 著者        Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M
 タイトル      N-acetylglutamate synthase: structure, function and defects.
 雑誌        Mol Genet Metab 100 Suppl 1:S13-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2010.02.018"">10.1016/j.ymgme.2010.02.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21941437"">21941437</a>
 著者        Haberle J
 タイトル      Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
 雑誌        Ther Clin Risk Manag 7:327-32 (2011)
 DOI:<a href=""https://doi.org/10.2147/TCRM.S12703"">10.2147/TCRM.S12703</a>"
H01033,先天性両側精管欠損症,,,"The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified.",先天奇形,,"(CBAVD) CFTR [HSA:1080] [KO:K05031]
 (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451]",,,,,Cystic fibrosis is described in H00218.,"ICD-11: LB57
 ICD-10: Q55.4
 MeSH: C535984
 OMIM: 277180 300985","PMID:9147111
 著者        Lissens W, Mercier B, Tournaye H, Bonduelle M, Ferec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I
 タイトル      Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.
 雑誌        Hum Reprod 11 Suppl 4:55-78; discussion 79-80 (1996)
 DOI:10.1093/humrep/11.suppl_4.55
 PMID:15379964
 著者        Cuppens H, Cassiman JJ
 タイトル      CFTR mutations and polymorphisms in male infertility.
 雑誌        Int J Androl 27:251-6 (2004)
 DOI:10.1111/j.1365-2605.2004.00485.x
 PMID:8421472 (CFTR)
 著者        Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J
 タイトル      High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
 雑誌        N Engl J Med 328:446-7 (1993)
 DOI:10.1056/NEJM199302113280619
 PMID:27476656 (ADGRG2)
 著者        Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saidi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E
 タイトル      Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
 雑誌        Am J Hum Genet 99:437-42 (2016)
 DOI:10.1016/j.ajhg.2016.06.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01033"">H01033</a>",先天性両側精管欠損症,"The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified.",,"(CBAVD) CFTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1080"">1080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05031"">K05031</a>]
 (CBAVDX) ADGRG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10149"">10149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08451"">K08451</a>]",,,,,"Cystic fibrosis is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218."">H00218.</a>","ICD-11: LB57
 ICD-10: Q55.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535984"">C535984</a>
 OMIM: <a href=""https://www.omim.org/entry/277180"">277180</a> <a href=""https://www.omim.org/entry/300985"">300985</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9147111"">9147111</a>
 著者        Lissens W, Mercier B, Tournaye H, Bonduelle M, Ferec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I
 タイトル      Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.
 雑誌        Hum Reprod 11 Suppl 4:55-78; discussion 79-80 (1996)
 DOI:<a href=""https://doi.org/10.1093/humrep/11.suppl_4.55"">10.1093/humrep/11.suppl_4.55</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15379964"">15379964</a>
 著者        Cuppens H, Cassiman JJ
 タイトル      CFTR mutations and polymorphisms in male infertility.
 雑誌        Int J Androl 27:251-6 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2605.2004.00485.x"">10.1111/j.1365-2605.2004.00485.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8421472"">8421472</a> (CFTR)
 著者        Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J
 タイトル      High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
 雑誌        N Engl J Med 328:446-7 (1993)
 DOI:<a href=""https://doi.org/10.1056/NEJM199302113280619"">10.1056/NEJM199302113280619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476656"">27476656</a> (ADGRG2)
 著者        Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saidi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E
 タイトル      Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
 雑誌        Am J Hum Genet 99:437-42 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.012"">10.1016/j.ajhg.2016.06.012</a>"
H01034,"L1 症候群
 下位グループ    遺伝性痙性対麻痺
 X 連鎖性水頭症 [DS:H02458]
 MASA 症候群 [DS:H02178]
 X 連鎖性脳梁部分欠損",,,"L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system.",先天奇形,,L1CAM [HSA:3897] [KO:K06550],,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.8
 MeSH: C536029
 OMIM: 307000 303350 304100","PMID:20447653
 著者        Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML
 タイトル      Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
 雑誌        J Neurol Sci 294:124-6 (2010)
 DOI:10.1016/j.jns.2010.03.030
 PMID:20301657
 著者        Schrander-Stumpel C, Vos YJ
 タイトル      L1 Syndrome
 雑誌        GeneReviews (1993)
 PMID:11438988
 著者        Weller S, Gartner J
 タイトル      Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
 雑誌        Hum Mutat 18:1-12 (2001)
 DOI:10.1002/humu.1144","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01034"">H01034</a>","L1 症候群
 下位グループ    遺伝性痙性対麻痺
 X 連鎖性水頭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02458"">H02458</a>]
 MASA 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02178"">H02178</a>]
 X 連鎖性脳梁部分欠損","L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system.",,"L1CAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3897"">3897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06550"">K06550</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536029"">C536029</a>
 OMIM: <a href=""https://www.omim.org/entry/307000"">307000</a> <a href=""https://www.omim.org/entry/303350"">303350</a> <a href=""https://www.omim.org/entry/304100"">304100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20447653"">20447653</a>
 著者        Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML
 タイトル      Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
 雑誌        J Neurol Sci 294:124-6 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2010.03.030"">10.1016/j.jns.2010.03.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301657"">20301657</a>
 著者        Schrander-Stumpel C, Vos YJ
 タイトル      L1 Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11438988"">11438988</a>
 著者        Weller S, Gartner J
 タイトル      Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
 雑誌        Hum Mutat 18:1-12 (2001)
 DOI:<a href=""https://doi.org/10.1002/humu.1144"">10.1002/humu.1144</a>"
H01035,精神遅滞・眼欠損症・小顎症を伴う脳梁欠損症,,,"This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A.",先天奇形,,IGBP1 (5-prime region) [HSA:3476] [KO:K17606],,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: C564509
 OMIM: 300472","PMID:14556245
 著者        Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC
 タイトル      A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
 雑誌        Am J Med Genet A 123A:37-44 (2003)
 DOI:10.1002/ajmg.a.20504","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01035"">H01035</a>",精神遅滞・眼欠損症・小顎症を伴う脳梁欠損症,"This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A.",,"IGBP1 (5-prime region) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3476"">3476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17606"">K17606</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564509"">C564509</a>
 OMIM: <a href=""https://www.omim.org/entry/300472"">300472</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14556245"">14556245</a>
 著者        Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC
 タイトル      A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
 雑誌        Am J Med Genet A 123A:37-44 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20504"">10.1002/ajmg.a.20504</a>"
H01036,網膜色素変性症を伴う後索型失調症,,,"Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein.",神経系疾患,,FLVCR1 [HSA:28982] [KO:K08220],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.1
 MeSH: C536343
 OMIM: 609033","PMID:21267618
 著者        Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
 タイトル      Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
 雑誌        Neurogenetics 12:117-21 (2011)
 DOI:10.1007/s10048-010-0271-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01036"">H01036</a>",網膜色素変性症を伴う後索型失調症,"Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein.",,"FLVCR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28982"">28982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08220"">K08220</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536343"">C536343</a>
 OMIM: <a href=""https://www.omim.org/entry/609033"">609033</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21267618"">21267618</a>
 著者        Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
 タイトル      Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
 雑誌        Neurogenetics 12:117-21 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10048-010-0271-4"">10.1007/s10048-010-0271-4</a>"
H01037,膀胱尿管逆流,,,"Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring.",泌尿器系疾患,,"(VUR2) ROBO2 [HSA:6092] [KO:K06754]
 (VUR3) SOX17 [HSA:64321] [KO:K04495]
 (VUR8) TNXB [HSA:7148] [KO:K06252]",,,,,,"ICD-11: GB56.5
 ICD-10: N13.7
 MeSH: D014718
 OMIM: 610878 613674 615963","PMID:22264440
 著者        Routh JC, Bogaert GA, Kaefer M, Manzoni G, Park JM, Retik AB, Rushton HG, Snodgrass WT, Wilcox DT
 タイトル      Vesicoureteral reflux: current trends in diagnosis, screening, and treatment.
 雑誌        Eur Urol 61:773-82 (2012)
 DOI:10.1016/j.eururo.2012.01.002
 PMID:21862976
 著者        Puri P, Gosemann JH, Darlow J, Barton DE
 タイトル      Genetics of vesicoureteral reflux.
 雑誌        Nat Rev Urol 8:539-52 (2011)
 DOI:10.1038/nrurol.2011.113
 PMID:21475075
 著者        Carvas F, Silva A, Nguyen HT
 タイトル      The genetics of primary, nonsyndromic vesicoureteral reflux.
 雑誌        Curr Opin Urol 20:336-42 (2010)
 DOI:10.1097/MOU.0b013e328339b739
 PMID:17357069 (ROBO2)
 著者        Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
 タイトル      Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
 雑誌        Am J Hum Genet 80:616-32 (2007)
 DOI:10.1086/512735
 PMID:20960469 (SOX17)
 著者        Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM
 タイトル      Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
 雑誌        Hum Mutat 31:1352-9 (2010)
 DOI:10.1002/humu.21378
 PMID:23620400 (TNXB)
 著者        Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP
 タイトル      TNXB mutations can cause vesicoureteral reflux.
 雑誌        J Am Soc Nephrol 24:1313-22 (2013)
 DOI:10.1681/ASN.2012121148","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01037"">H01037</a>",膀胱尿管逆流,"Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring.",,"(VUR2) ROBO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6092"">6092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06754"">K06754</a>]
 (VUR3) SOX17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64321"">64321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04495"">K04495</a>]
 (VUR8) TNXB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7148"">7148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06252"">K06252</a>]",,,,,,"ICD-11: GB56.5
 ICD-10: N13.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014718"">D014718</a>
 OMIM: <a href=""https://www.omim.org/entry/610878"">610878</a> <a href=""https://www.omim.org/entry/613674"">613674</a> <a href=""https://www.omim.org/entry/615963"">615963</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22264440"">22264440</a>
 著者        Routh JC, Bogaert GA, Kaefer M, Manzoni G, Park JM, Retik AB, Rushton HG, Snodgrass WT, Wilcox DT
 タイトル      Vesicoureteral reflux: current trends in diagnosis, screening, and treatment.
 雑誌        Eur Urol 61:773-82 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.eururo.2012.01.002"">10.1016/j.eururo.2012.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21862976"">21862976</a>
 著者        Puri P, Gosemann JH, Darlow J, Barton DE
 タイトル      Genetics of vesicoureteral reflux.
 雑誌        Nat Rev Urol 8:539-52 (2011)
 DOI:<a href=""https://doi.org/10.1038/nrurol.2011.113"">10.1038/nrurol.2011.113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21475075"">21475075</a>
 著者        Carvas F, Silva A, Nguyen HT
 タイトル      The genetics of primary, nonsyndromic vesicoureteral reflux.
 雑誌        Curr Opin Urol 20:336-42 (2010)
 DOI:<a href=""https://doi.org/10.1097/MOU.0b013e328339b739"">10.1097/MOU.0b013e328339b739</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17357069"">17357069</a> (ROBO2)
 著者        Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
 タイトル      Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
 雑誌        Am J Hum Genet 80:616-32 (2007)
 DOI:<a href=""https://doi.org/10.1086/512735"">10.1086/512735</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20960469"">20960469</a> (SOX17)
 著者        Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM
 タイトル      Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
 雑誌        Hum Mutat 31:1352-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21378"">10.1002/humu.21378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23620400"">23620400</a> (TNXB)
 著者        Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP
 タイトル      TNXB mutations can cause vesicoureteral reflux.
 雑誌        J Am Soc Nephrol 24:1313-22 (2013)
 DOI:<a href=""https://doi.org/10.1681/ASN.2012121148"">10.1681/ASN.2012121148</a>"
H01038,Cayman型小脳性運動失調症,,,"Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing.",神経系疾患,,ATCAY [HSA:85300] [KO:K18450],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.0
 MeSH: C563363
 OMIM: 601238","PMID:17157273
 著者        Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T
 タイトル      Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner.
 雑誌        Brain Res 1129:100-9 (2007)
 DOI:10.1016/j.brainres.2006.10.068","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01038"">H01038</a>",Cayman型小脳性運動失調症,"Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing.",,"ATCAY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85300"">85300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18450"">K18450</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563363"">C563363</a>
 OMIM: <a href=""https://www.omim.org/entry/601238"">601238</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17157273"">17157273</a>
 著者        Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T
 タイトル      Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner.
 雑誌        Brain Res 1129:100-9 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.brainres.2006.10.068"">10.1016/j.brainres.2006.10.068</a>"
H01039,卵巣過刺激症候群,,,"Ovarian hyperstimulation syndrome (OHSS) is typically an iatrogenic complication of ovulation induction (OI) occurring during the luteal phase or early pregnancy. OHSS is characterised by a cystic enlargement of the ovaries and an acute fluid shift from the intravascular to the third space, which may result in ascites, pleural infusions, pericardial infusion, and even generalized edema. Majority of OHSS cases have been associated with the use of gonadotrophins for OI in anovulatory women or for ovarian stimulation (OS) in the context of assisted reproductive technology (ART). Recurrent cases and familial occurrence of OHSS have been described, and different mutations in the follicle-stimulating hormone receptor (FSHr) have been reported in these cases. Polycystic ovarian syndrome (PCOS) appears to be the major predisposing factor for OHSS in a large number of studies.",生殖系疾患,,FSHR [HSA:2492] [KO:K04247],,Medication for ovulation induction or ovarian stimulation,,,,"ICD-11: GA32.0
 ICD-10: N98.1
 MeSH: D016471
 OMIM: 608115","PMID:20977119
 著者        Kasum M
 タイトル      New insights in mechanisms for development of ovarian hyperstimulation syndrome.
 雑誌        Coll Antropol 34:1139-43 (2010)
 PMID:19632900 (description, gene, environmental factor)
 著者        Vloeberghs V, Peeraer K, Pexsters A, D'Hooghe T
 タイトル      Ovarian hyperstimulation syndrome and complications of ART.
 雑誌        Best Pract Res Clin Obstet Gynaecol 23:691-709 (2009)
 DOI:10.1016/j.bpobgyn.2009.02.006
 PMID:20416867
 著者        Humaidan P, Quartarolo J, Papanikolaou EG
 タイトル      Preventing ovarian hyperstimulation syndrome: guidance for the clinician.
 雑誌        Fertil Steril 94:389-400 (2010)
 DOI:10.1016/j.fertnstert.2010.03.028
 PMID:17055817
 タイトル      Ovarian hyperstimulation syndrome.
 雑誌        Fertil Steril 86:S178-83 (2006)
 DOI:10.1016/j.fertnstert.2006.08.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01039"">H01039</a>",卵巣過刺激症候群,"Ovarian hyperstimulation syndrome (OHSS) is typically an iatrogenic complication of ovulation induction (OI) occurring during the luteal phase or early pregnancy. OHSS is characterised by a cystic enlargement of the ovaries and an acute fluid shift from the intravascular to the third space, which may result in ascites, pleural infusions, pericardial infusion, and even generalized edema. Majority of OHSS cases have been associated with the use of gonadotrophins for OI in anovulatory women or for ovarian stimulation (OS) in the context of assisted reproductive technology (ART). Recurrent cases and familial occurrence of OHSS have been described, and different mutations in the follicle-stimulating hormone receptor (FSHr) have been reported in these cases. Polycystic ovarian syndrome (PCOS) appears to be the major predisposing factor for OHSS in a large number of studies.",,"FSHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2492"">2492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04247"">K04247</a>]",,Medication for ovulation induction or ovarian stimulation,,,,"ICD-11: GA32.0
 ICD-10: N98.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016471"">D016471</a>
 OMIM: <a href=""https://www.omim.org/entry/608115"">608115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20977119"">20977119</a>
 著者        Kasum M
 タイトル      New insights in mechanisms for development of ovarian hyperstimulation syndrome.
 雑誌        Coll Antropol 34:1139-43 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19632900"">19632900</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Vloeberghs V, Peeraer K, Pexsters A, D'Hooghe T
 タイトル      Ovarian hyperstimulation syndrome and complications of ART.
 雑誌        Best Pract Res Clin Obstet Gynaecol 23:691-709 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bpobgyn.2009.02.006"">10.1016/j.bpobgyn.2009.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20416867"">20416867</a>
 著者        Humaidan P, Quartarolo J, Papanikolaou EG
 タイトル      Preventing ovarian hyperstimulation syndrome: guidance for the clinician.
 雑誌        Fertil Steril 94:389-400 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2010.03.028"">10.1016/j.fertnstert.2010.03.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17055817"">17055817</a>
 タイトル      Ovarian hyperstimulation syndrome.
 雑誌        Fertil Steril 86:S178-83 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2006.08.021"">10.1016/j.fertnstert.2006.08.021</a>"
H01040,Bamforth-Lazarus 症候群,,,"Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.",,,FOXE1 [HSA:2304] [KO:K09398],,,,,,"ICD-11: 5A00.0Y
 ICD-10: E03.1
 MeSH: C537901
 OMIM: 241850","PMID:20453517
 著者        Castanet M, Polak M
 タイトル      Spectrum of Human Foxe1/TTF2 Mutations.
 雑誌        Horm Res Paediatr 73:423-9 (2010)
 DOI:10.1159/000281438
 PMID:2918525
 著者        Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS
 タイトル      Congenital hypothyroidism, spiky hair, and cleft palate.
 雑誌        J Med Genet 26:49-51 (1989)
 DOI:10.1136/jmg.26.1.49","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01040"">H01040</a>",Bamforth-Lazarus 症候群,"Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.",,"FOXE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2304"">2304</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]",,,,,,"ICD-11: 5A00.0Y
 ICD-10: E03.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537901"">C537901</a>
 OMIM: <a href=""https://www.omim.org/entry/241850"">241850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20453517"">20453517</a>
 著者        Castanet M, Polak M
 タイトル      Spectrum of Human Foxe1/TTF2 Mutations.
 雑誌        Horm Res Paediatr 73:423-9 (2010)
 DOI:<a href=""https://doi.org/10.1159/000281438"">10.1159/000281438</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2918525"">2918525</a>
 著者        Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS
 タイトル      Congenital hypothyroidism, spiky hair, and cleft palate.
 雑誌        J Med Genet 26:49-51 (1989)
 DOI:<a href=""https://doi.org/10.1136/jmg.26.1.49"">10.1136/jmg.26.1.49</a>"
H01041,Aerococcus urinae 感染症,,,"Aerococcus urinae is a rare pathogen that belongs to a gram-positive coccus. Most infections are mild, but fatal infections such as endocarditis and septicemia/urosepsis have also been described.",感染症,,,Aerococcus urinae [GN:aun],,,,,,"PMID:10747177
 著者        Zhang Q, Kwoh C, Attorri S, Clarridge JE 3rd
 タイトル      Aerococcus urinae in urinary tract infections.
 雑誌        J Clin Microbiol 38:1703-5 (2000)
 DOI:10.1128/JCM.38.4.1703-1705.2000
 PMID:20660216
 著者        de Jong MF, Soetekouw R, ten Kate RW, Veenendaal D
 タイトル      Aerococcus urinae: severe and fatal bloodstream infections and endocarditis.
 雑誌        J Clin Microbiol 48:3445-7 (2010)
 DOI:10.1128/JCM.00835-10
 PMID:10421047
 著者        Schuur PM, Sabbe L, van der Wouw AJ, Montagne GJ, Buiting AG
 タイトル      Three cases of serious infection caused by Aerococcus urinae.
 雑誌        Eur J Clin Microbiol Infect Dis 18:368-71 (1999)
 DOI:10.1007/PL00015022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01041"">H01041</a>",Aerococcus urinae 感染症,"Aerococcus urinae is a rare pathogen that belongs to a gram-positive coccus. Most infections are mild, but fatal infections such as endocarditis and septicemia/urosepsis have also been described.",,,"Aerococcus urinae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aun"">aun</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10747177"">10747177</a>
 著者        Zhang Q, Kwoh C, Attorri S, Clarridge JE 3rd
 タイトル      Aerococcus urinae in urinary tract infections.
 雑誌        J Clin Microbiol 38:1703-5 (2000)
 DOI:<a href=""https://doi.org/10.1128/JCM.38.4.1703-1705.2000"">10.1128/JCM.38.4.1703-1705.2000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20660216"">20660216</a>
 著者        de Jong MF, Soetekouw R, ten Kate RW, Veenendaal D
 タイトル      Aerococcus urinae: severe and fatal bloodstream infections and endocarditis.
 雑誌        J Clin Microbiol 48:3445-7 (2010)
 DOI:<a href=""https://doi.org/10.1128/JCM.00835-10"">10.1128/JCM.00835-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10421047"">10421047</a>
 著者        Schuur PM, Sabbe L, van der Wouw AJ, Montagne GJ, Buiting AG
 タイトル      Three cases of serious infection caused by Aerococcus urinae.
 雑誌        Eur J Clin Microbiol Infect Dis 18:368-71 (1999)
 DOI:<a href=""https://doi.org/10.1007/PL00015022"">10.1007/PL00015022</a>"
H01042,"ブルーリ潰瘍
 上位グループ    非結核性抗酸菌症 [DS:H01458]",,,"Buruli ulcer (BU) is a neglected emerging disease that has recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically painless necrotizing skin lesions.",感染症,,,Mycobacterium ulcerans [GN:mul],,,,,"ICD-11: 1B21.20
 ICD-10: A31.1
 MeSH: D054312","PMID:21179505
 著者        Merritt RW, Walker ED, Small PL, Wallace JR, Johnson PD, Benbow ME, Boakye DA
 タイトル      Ecology and transmission of Buruli ulcer disease: a systematic review.
 雑誌        PLoS Negl Trop Dis 4:e911 (2010)
 DOI:10.1371/journal.pntd.0000911
 PMID:21095521
 著者        Walsh DS, Portaels F, Meyers WM
 タイトル      Buruli ulcer: Advances in understanding Mycobacterium ulcerans infection.
 雑誌        Dermatol Clin 29:1-8 (2011)
 DOI:10.1016/j.det.2010.09.006
 PMID:22004037
 著者        Converse PJ, Nuermberger EL, Almeida DV, Grosset JH
 タイトル      Treating Mycobacterium ulcerans disease (Buruli ulcer): from surgery to antibiotics, is the pill mightier than the knife?
 雑誌        Future Microbiol 6:1185-98 (2011)
 DOI:10.2217/fmb.11.101","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01042"">H01042</a>","ブルーリ潰瘍
 上位グループ    非結核性抗酸菌症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01458"">H01458</a>]","Buruli ulcer (BU) is a neglected emerging disease that has recently been reported in some countries especially in central and western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically painless necrotizing skin lesions.",,,"Mycobacterium ulcerans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mul"">mul</a>]",,,,,"ICD-11: 1B21.20
 ICD-10: A31.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054312"">D054312</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21179505"">21179505</a>
 著者        Merritt RW, Walker ED, Small PL, Wallace JR, Johnson PD, Benbow ME, Boakye DA
 タイトル      Ecology and transmission of Buruli ulcer disease: a systematic review.
 雑誌        PLoS Negl Trop Dis 4:e911 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0000911"">10.1371/journal.pntd.0000911</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21095521"">21095521</a>
 著者        Walsh DS, Portaels F, Meyers WM
 タイトル      Buruli ulcer: Advances in understanding Mycobacterium ulcerans infection.
 雑誌        Dermatol Clin 29:1-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.det.2010.09.006"">10.1016/j.det.2010.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22004037"">22004037</a>
 著者        Converse PJ, Nuermberger EL, Almeida DV, Grosset JH
 タイトル      Treating Mycobacterium ulcerans disease (Buruli ulcer): from surgery to antibiotics, is the pill mightier than the knife?
 雑誌        Future Microbiol 6:1185-98 (2011)
 DOI:<a href=""https://doi.org/10.2217/fmb.11.101"">10.2217/fmb.11.101</a>"
H01043,"オンコセルカ症
 上位グループ    フィラリア症 [DS:H02028]",,,"Human onchocerciasis is an infection caused by the filarial nematode Onchocerca volvulus transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula, and small parts of Latin America. Persons with onchocerciasis may develop skin diseases such as pruritus, lichenification, and depigmentation, as well as ocular manifestations. Onchocerca volvulus contain Wolbachia bacteria as mutualistic symbionts, and these Wolbachia affects the nematode survival.",感染症,,,Onchocerca volvulus,,,,Vector: Simulium blackflies,"ICD-11: 1F6A
 ICD-10: B73
 MeSH: D009855","PMID:20739055
 著者        Taylor MJ, Hoerauf A, Bockarie M
 タイトル      Lymphatic filariasis and onchocerciasis.
 雑誌        Lancet 376:1175-85 (2010)
 DOI:10.1016/S0140-6736(10)60586-7
 PMID:20801094
 著者        Cupp EW, Sauerbrey M, Richards F
 タイトル      Elimination of human onchocerciasis: history of progress and current feasibility using ivermectin (Mectizan((R))) monotherapy.
 雑誌        Acta Trop 120 Suppl 1:S100-8 (2011)
 DOI:10.1016/j.actatropica.2010.08.009
 PMID:21734243
 著者        Tamarozzi F, Halliday A, Gentil K, Hoerauf A, Pearlman E, Taylor MJ
 タイトル      Onchocerciasis: the role of Wolbachia bacterial endosymbionts in parasite biology, disease pathogenesis, and treatment.
 雑誌        Clin Microbiol Rev 24:459-68 (2011)
 DOI:10.1128/CMR.00057-10","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01043"">H01043</a>","オンコセルカ症
 上位グループ    フィラリア症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02028"">H02028</a>]","Human onchocerciasis is an infection caused by the filarial nematode Onchocerca volvulus transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula, and small parts of Latin America. Persons with onchocerciasis may develop skin diseases such as pruritus, lichenification, and depigmentation, as well as ocular manifestations. Onchocerca volvulus contain Wolbachia bacteria as mutualistic symbionts, and these Wolbachia affects the nematode survival.",,,Onchocerca volvulus,,,,Vector: Simulium blackflies,"ICD-11: 1F6A
 ICD-10: B73
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009855"">D009855</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20739055"">20739055</a>
 著者        Taylor MJ, Hoerauf A, Bockarie M
 タイトル      Lymphatic filariasis and onchocerciasis.
 雑誌        Lancet 376:1175-85 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)60586-7"">10.1016/S0140-6736(10)60586-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20801094"">20801094</a>
 著者        Cupp EW, Sauerbrey M, Richards F
 タイトル      Elimination of human onchocerciasis: history of progress and current feasibility using ivermectin (Mectizan((R))) monotherapy.
 雑誌        Acta Trop 120 Suppl 1:S100-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2010.08.009"">10.1016/j.actatropica.2010.08.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21734243"">21734243</a>
 著者        Tamarozzi F, Halliday A, Gentil K, Hoerauf A, Pearlman E, Taylor MJ
 タイトル      Onchocerciasis: the role of Wolbachia bacterial endosymbionts in parasite biology, disease pathogenesis, and treatment.
 雑誌        Clin Microbiol Rev 24:459-68 (2011)
 DOI:<a href=""https://doi.org/10.1128/CMR.00057-10"">10.1128/CMR.00057-10</a>"
H01044,メジナ虫症,,,"Dracunculiasis, or guinea worm disease, is a parasitic disease caused by the nematode Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking water. It is transmitted by contaminated drinking water containing water fleas that are infected with D. medinensis larvae. In infected individuals, the worm emerges as a whitish filament in the center of a painful ulcer of the lower extremity, impairing mobility for up to several weeks.",感染症,,,Dracunculus medinensis,,,,Intermediate host:Arthropods (Water flea),"ICD-11: 1F64
 ICD-10: B72
 MeSH: D004320","PMID:14970098
 著者        Greenaway C
 タイトル      Dracunculiasis (guinea worm disease).
 雑誌        CMAJ 170:495-500 (2004)
 PMID:18074151
 著者        Iriemenam NC, Oyibo WA, Fagbenro-Beyioku AF
 タイトル      Dracunculiasis--the saddle is virtually ended.
 雑誌        Parasitol Res 102:343-7 (2008)
 DOI:10.1007/s00436-007-0828-9
 PMID:10813467
 著者        Hopkins DR, Ruiz-Tiben E, Ruebush TK, Diallo N, Agle A, Withers PC Jr
 タイトル      Dracunculiasis eradication: delayed, not denied.
 雑誌        Am J Trop Med Hyg 62:163-8 (2000)
 DOI:10.4269/ajtmh.2000.62.163
 PMID:16735167
 著者        Ruiz-Tiben E, Hopkins DR
 タイトル      Dracunculiasis (Guinea worm disease) eradication.
 雑誌        Adv Parasitol 61:275-309 (2006)
 DOI:10.1016/S0065-308X(05)61007-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01044"">H01044</a>",メジナ虫症,"Dracunculiasis, or guinea worm disease, is a parasitic disease caused by the nematode Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking water. It is transmitted by contaminated drinking water containing water fleas that are infected with D. medinensis larvae. In infected individuals, the worm emerges as a whitish filament in the center of a painful ulcer of the lower extremity, impairing mobility for up to several weeks.",,,Dracunculus medinensis,,,,Intermediate host:Arthropods (Water flea),"ICD-11: 1F64
 ICD-10: B72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004320"">D004320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14970098"">14970098</a>
 著者        Greenaway C
 タイトル      Dracunculiasis (guinea worm disease).
 雑誌        CMAJ 170:495-500 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18074151"">18074151</a>
 著者        Iriemenam NC, Oyibo WA, Fagbenro-Beyioku AF
 タイトル      Dracunculiasis--the saddle is virtually ended.
 雑誌        Parasitol Res 102:343-7 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00436-007-0828-9"">10.1007/s00436-007-0828-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10813467"">10813467</a>
 著者        Hopkins DR, Ruiz-Tiben E, Ruebush TK, Diallo N, Agle A, Withers PC Jr
 タイトル      Dracunculiasis eradication: delayed, not denied.
 雑誌        Am J Trop Med Hyg 62:163-8 (2000)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2000.62.163"">10.4269/ajtmh.2000.62.163</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16735167"">16735167</a>
 著者        Ruiz-Tiben E, Hopkins DR
 タイトル      Dracunculiasis (Guinea worm disease) eradication.
 雑誌        Adv Parasitol 61:275-309 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0065-308X(05)61007-X"">10.1016/S0065-308X(05)61007-X</a>"
H01045,住血吸虫症,,,"Schistosomiasis is a parasitic disease caused by trematode worms of the genus Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people at risk of infection with 200 million infected. Among nonimmune patients, host's immune response to schistosome eggs leads to acute schistosomiasis that is characterized by cercarial dermatitis and Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead to chronic fibrotic response in host tissues, causing gastrointestinal and liver diseases.",感染症,,,"Schistosoma mansoni [GN:smm]
 Schistosoma haematobium [GN:shx]
 Schistosoma japonicum",,,,,"ICD-11: 1F86
 ICD-10: B65
 MeSH: D012552","PMID:19292768
 著者        Burke ML, Jones MK, Gobert GN, Li YS, Ellis MK, McManus DP
 タイトル      Immunopathogenesis of human schistosomiasis.
 雑誌        Parasite Immunol 31:163-76 (2009)
 DOI:10.1111/j.1365-3024.2009.01098.x
 PMID:17160074
 著者        Wilson MS, Mentink-Kane MM, Pesce JT, Ramalingam TR, Thompson R, Wynn TA
 タイトル      Immunopathology of schistosomiasis.
 雑誌        Immunol Cell Biol 85:148-54 (2007)
 DOI:10.1038/sj.icb.7100014
 PMID:20222897
 著者        Jaureguiberry S, Paris L, Caumes E
 タイトル      Acute schistosomiasis, a diagnostic and therapeutic challenge.
 雑誌        Clin Microbiol Infect 16:225-31 (2010)
 DOI:10.1111/j.1469-0691.2009.03131.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01045"">H01045</a>",住血吸虫症,"Schistosomiasis is a parasitic disease caused by trematode worms of the genus Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people at risk of infection with 200 million infected. Among nonimmune patients, host's immune response to schistosome eggs leads to acute schistosomiasis that is characterized by cercarial dermatitis and Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead to chronic fibrotic response in host tissues, causing gastrointestinal and liver diseases.",,,"Schistosoma mansoni [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smm"">smm</a>]
 Schistosoma haematobium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:shx"">shx</a>]
 Schistosoma japonicum",,,,,"ICD-11: 1F86
 ICD-10: B65
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012552"">D012552</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19292768"">19292768</a>
 著者        Burke ML, Jones MK, Gobert GN, Li YS, Ellis MK, McManus DP
 タイトル      Immunopathogenesis of human schistosomiasis.
 雑誌        Parasite Immunol 31:163-76 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-3024.2009.01098.x"">10.1111/j.1365-3024.2009.01098.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160074"">17160074</a>
 著者        Wilson MS, Mentink-Kane MM, Pesce JT, Ramalingam TR, Thompson R, Wynn TA
 タイトル      Immunopathology of schistosomiasis.
 雑誌        Immunol Cell Biol 85:148-54 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.icb.7100014"">10.1038/sj.icb.7100014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20222897"">20222897</a>
 著者        Jaureguiberry S, Paris L, Caumes E
 タイトル      Acute schistosomiasis, a diagnostic and therapeutic challenge.
 雑誌        Clin Microbiol Infect 16:225-31 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2009.03131.x"">10.1111/j.1469-0691.2009.03131.x</a>"
H01046,鞭虫症,,,"Trichuriasis is a parasitic disease caused by the whipworm Trichuris trichiura, which is prevalent, particularly in tropical and subtropical areas. The infections occur by ingestion of embryonated eggs through contaminated soil or food. Adult trichuris whipworms live in the large intestine (caecum and colon) and cause chronic dysentery and/or rectal prolapse.",感染症,,,Trichuris trichiura,,,メベンダゾール [DR:D00368],,"ICD-11: 1F6G
 ICD-10: B79
 MeSH: D014257","PMID:9754779
 著者        Chandra B, Long JD
 タイトル      Diagnosis of Trichuris trichiura (whipworm) by colonoscopic extraction.
 雑誌        J Clin Gastroenterol 27:152-3 (1998)
 DOI:10.1097/00004836-199809000-00011
 PMID:21295679
 著者        Jex AR, Lim YA, Bethony JM, Hotez PJ, Young ND, Gasser RB
 タイトル      Soil-transmitted helminths of humans in Southeast Asia--towards integrated control.
 雑誌        Adv Parasitol 74:231-65 (2011)
 DOI:10.1016/B978-0-12-385897-9.00004-5
 PMID:16679166
 著者        Bethony J, Brooker S, Albonico M, Geiger SM, Loukas A, Diemert D, Hotez PJ
 タイトル      Soil-transmitted helminth infections: ascariasis, trichuriasis, and hookworm.
 雑誌        Lancet 367:1521-32 (2006)
 DOI:10.1016/S0140-6736(06)68653-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01046"">H01046</a>",鞭虫症,"Trichuriasis is a parasitic disease caused by the whipworm Trichuris trichiura, which is prevalent, particularly in tropical and subtropical areas. The infections occur by ingestion of embryonated eggs through contaminated soil or food. Adult trichuris whipworms live in the large intestine (caecum and colon) and cause chronic dysentery and/or rectal prolapse.",,,Trichuris trichiura,,,"メベンダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00368"">D00368</a>]",,"ICD-11: 1F6G
 ICD-10: B79
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014257"">D014257</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9754779"">9754779</a>
 著者        Chandra B, Long JD
 タイトル      Diagnosis of Trichuris trichiura (whipworm) by colonoscopic extraction.
 雑誌        J Clin Gastroenterol 27:152-3 (1998)
 DOI:<a href=""https://doi.org/10.1097/00004836-199809000-00011"">10.1097/00004836-199809000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21295679"">21295679</a>
 著者        Jex AR, Lim YA, Bethony JM, Hotez PJ, Young ND, Gasser RB
 タイトル      Soil-transmitted helminths of humans in Southeast Asia--towards integrated control.
 雑誌        Adv Parasitol 74:231-65 (2011)
 DOI:<a href=""https://doi.org/10.1016/B978-0-12-385897-9.00004-5"">10.1016/B978-0-12-385897-9.00004-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16679166"">16679166</a>
 著者        Bethony J, Brooker S, Albonico M, Geiger SM, Loukas A, Diemert D, Hotez PJ
 タイトル      Soil-transmitted helminth infections: ascariasis, trichuriasis, and hookworm.
 雑誌        Lancet 367:1521-32 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(06)68653-4"">10.1016/S0140-6736(06)68653-4</a>"
H01047,嚢虫症,,,"Taenia solium, the pork tapeworm, is endemic in many poorer countries of Latin America, Africa, and Asia, where pigs are raised. Human infection with T. solium occurs after ingestion of undercooked pork infected with cysticerci. The larval stage of T. solium infects the human nervous system, causing neurocysticercosis. Neurocysticercosis causes acquired epilepsy and death.",感染症,,,Taenia solium,,,,Intermediate host: Pig,"ICD-11: 1F70 1F76.0
 ICD-10: B69 B68.0
 MeSH: D003551","PMID:21788891
 著者        Garcia HH, Gonzalez AE, Gilman RH
 タイトル      Cysticercosis of the central nervous system: how should it be managed?
 雑誌        Curr Opin Infect Dis 24:423-7 (2011)
 DOI:10.1097/QCO.0b013e32834a1b20
 PMID:12932389
 著者        Garcia HH, Gonzalez AE, Evans CA, Gilman RH
 タイトル      Taenia solium cysticercosis.
 雑誌        Lancet 362:547-56 (2003)
 DOI:10.1016/S0140-6736(03)14117-7
 PMID:10738675
 著者        Garcia HH, Del Brutto OH
 タイトル      Taenia solium cysticercosis.
 雑誌        Infect Dis Clin North Am 14:97-119, ix (2000)
 DOI:10.1016/S0891-5520(05)70220-8
 PMID:16735172
 著者        Willingham AL 3rd, Engels D
 タイトル      Control of Taenia solium cysticercosis/taeniosis.
 雑誌        Adv Parasitol 61:509-66 (2006)
 DOI:10.1016/S0065-308X(05)61012-3
 PMID:16337431
 著者        Montresor A, Palmer K
 タイトル      Taeniasis/cysticercosis trend worldwide and rationale for control.
 雑誌        Parasitol Int 55 Suppl:S301-3 (2006)
 DOI:10.1016/j.parint.2005.11.045
 PMID:22312322
 著者        Del Brutto OH
 タイトル      Neurocysticercosis: a review.
 雑誌        ScientificWorldJournal 2012:159821 (2012)
 DOI:10.1100/2012/159821
 PMID:10774460
 著者        White AC Jr
 タイトル      Neurocysticercosis: updates on epidemiology, pathogenesis, diagnosis, and management.
 雑誌        Annu Rev Med 51:187-206 (2000)
 DOI:10.1146/annurev.med.51.1.187","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01047"">H01047</a>",嚢虫症,"Taenia solium, the pork tapeworm, is endemic in many poorer countries of Latin America, Africa, and Asia, where pigs are raised. Human infection with T. solium occurs after ingestion of undercooked pork infected with cysticerci. The larval stage of T. solium infects the human nervous system, causing neurocysticercosis. Neurocysticercosis causes acquired epilepsy and death.",,,Taenia solium,,,,Intermediate host: Pig,"ICD-11: 1F70 1F76.0
 ICD-10: B69 B68.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003551"">D003551</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21788891"">21788891</a>
 著者        Garcia HH, Gonzalez AE, Gilman RH
 タイトル      Cysticercosis of the central nervous system: how should it be managed?
 雑誌        Curr Opin Infect Dis 24:423-7 (2011)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32834a1b20"">10.1097/QCO.0b013e32834a1b20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12932389"">12932389</a>
 著者        Garcia HH, Gonzalez AE, Evans CA, Gilman RH
 タイトル      Taenia solium cysticercosis.
 雑誌        Lancet 362:547-56 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14117-7"">10.1016/S0140-6736(03)14117-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10738675"">10738675</a>
 著者        Garcia HH, Del Brutto OH
 タイトル      Taenia solium cysticercosis.
 雑誌        Infect Dis Clin North Am 14:97-119, ix (2000)
 DOI:<a href=""https://doi.org/10.1016/S0891-5520(05)70220-8"">10.1016/S0891-5520(05)70220-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16735172"">16735172</a>
 著者        Willingham AL 3rd, Engels D
 タイトル      Control of Taenia solium cysticercosis/taeniosis.
 雑誌        Adv Parasitol 61:509-66 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0065-308X(05)61012-3"">10.1016/S0065-308X(05)61012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16337431"">16337431</a>
 著者        Montresor A, Palmer K
 タイトル      Taeniasis/cysticercosis trend worldwide and rationale for control.
 雑誌        Parasitol Int 55 Suppl:S301-3 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.parint.2005.11.045"">10.1016/j.parint.2005.11.045</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22312322"">22312322</a>
 著者        Del Brutto OH
 タイトル      Neurocysticercosis: a review.
 雑誌        ScientificWorldJournal 2012:159821 (2012)
 DOI:<a href=""https://doi.org/10.1100/2012/159821"">10.1100/2012/159821</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10774460"">10774460</a>
 著者        White AC Jr
 タイトル      Neurocysticercosis: updates on epidemiology, pathogenesis, diagnosis, and management.
 雑誌        Annu Rev Med 51:187-206 (2000)
 DOI:<a href=""https://doi.org/10.1146/annurev.med.51.1.187"">10.1146/annurev.med.51.1.187</a>"
H01048,"肝蛭症
 上位グループ    食物媒介吸虫類感染症 [DS:H01617]",,,"Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions of both species overlap in many areas of Africa and Asia. An infection is accomplished through oral ingestion of the infective stage of the parasite either through consumption of uncooked or unwashed aquatic plants, or through drinking contaminated water. The presence of F. hepatica flukes in humans was first documented in 1760.",感染症,,,"Fasciola hepatica
 Fasciola gigantica",,,,Intermediate host: freshwater snail species of the family Lymnaeidae,"ICD-11: 1F82
 ICD-10: B66.3
 MeSH: D005211","PMID:18725803
 著者        Marcos LA, Terashima A, Gotuzzo E
 タイトル      Update on hepatobiliary flukes: fascioliasis, opisthorchiasis and clonorchiasis.
 雑誌        Curr Opin Infect Dis 21:523-30 (2008)
 DOI:10.1097/QCO.0b013e32830f9818
 PMID:16307491 (drug)
 著者        Keiser J, Engels D, Buscher G, Utzinger J
 タイトル      Triclabendazole for the treatment of fascioliasis and paragonimiasis.
 雑誌        Expert Opin Investig Drugs 14:1513-26 (2005)
 DOI:10.1517/13543784.14.12.1513
 PMID:16150452
 著者        Mas-Coma S, Bargues MD, Valero MA
 タイトル      Fascioliasis and other plant-borne trematode zoonoses.
 雑誌        Int J Parasitol 35:1255-78 (2005)
 DOI:10.1016/j.ijpara.2005.07.010
 PMID:19597009
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:10.1128/CMR.00012-09","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01048"">H01048</a>","肝蛭症
 上位グループ    食物媒介吸虫類感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01617"">H01617</a>]","Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions of both species overlap in many areas of Africa and Asia. An infection is accomplished through oral ingestion of the infective stage of the parasite either through consumption of uncooked or unwashed aquatic plants, or through drinking contaminated water. The presence of F. hepatica flukes in humans was first documented in 1760.",,,"Fasciola hepatica
 Fasciola gigantica",,,,Intermediate host: freshwater snail species of the family Lymnaeidae,"ICD-11: 1F82
 ICD-10: B66.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005211"">D005211</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18725803"">18725803</a>
 著者        Marcos LA, Terashima A, Gotuzzo E
 タイトル      Update on hepatobiliary flukes: fascioliasis, opisthorchiasis and clonorchiasis.
 雑誌        Curr Opin Infect Dis 21:523-30 (2008)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32830f9818"">10.1097/QCO.0b013e32830f9818</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16307491"">16307491</a> (drug)
 著者        Keiser J, Engels D, Buscher G, Utzinger J
 タイトル      Triclabendazole for the treatment of fascioliasis and paragonimiasis.
 雑誌        Expert Opin Investig Drugs 14:1513-26 (2005)
 DOI:<a href=""https://doi.org/10.1517/13543784.14.12.1513"">10.1517/13543784.14.12.1513</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16150452"">16150452</a>
 著者        Mas-Coma S, Bargues MD, Valero MA
 タイトル      Fascioliasis and other plant-borne trematode zoonoses.
 雑誌        Int J Parasitol 35:1255-78 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ijpara.2005.07.010"">10.1016/j.ijpara.2005.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597009"">19597009</a>
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00012-09"">10.1128/CMR.00012-09</a>"
H01049,Gordonia bronchialis 感染,,,"Gordonia species are aerobic actinomycetes recently recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia, pleural infection, intraventricular shunt, sternal wound, and breast abscess.",感染症,,,Gordonia bronchialis [GN:gbr],,,,,,"PMID:15956447
 著者        Werno AM, Anderson TP, Chambers ST, Laird HM, Murdoch DR
 タイトル      Recurrent breast abscess caused by Gordonia bronchialis in an immunocompetent patient.
 雑誌        J Clin Microbiol 43:3009-10 (2005)
 DOI:10.1128/JCM.43.6.3009-3010.2005
 PMID:15184495
 著者        Sng LH, Koh TH, Toney SR, Floyd M, Butler WR, Tan BH
 タイトル      Bacteremia caused by Gordonia bronchialis in a patient with sequestrated lung.
 雑誌        J Clin Microbiol 42:2870-1 (2004)
 DOI:10.1128/JCM.42.6.2870-2871.2004
 PMID:21270217
 著者        Johnson JA, Onderdonk AB, Cosimi LA, Yawetz S, Lasker BA, Bolcen SJ, Brown JM, Marty FM
 タイトル      Gordonia bronchialis bacteremia and pleural infection: case report and review of the literature.
 雑誌        J Clin Microbiol 49:1662-6 (2011)
 DOI:10.1128/JCM.02121-10","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01049"">H01049</a>",Gordonia bronchialis 感染,"Gordonia species are aerobic actinomycetes recently recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia, pleural infection, intraventricular shunt, sternal wound, and breast abscess.",,,"Gordonia bronchialis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:gbr"">gbr</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15956447"">15956447</a>
 著者        Werno AM, Anderson TP, Chambers ST, Laird HM, Murdoch DR
 タイトル      Recurrent breast abscess caused by Gordonia bronchialis in an immunocompetent patient.
 雑誌        J Clin Microbiol 43:3009-10 (2005)
 DOI:<a href=""https://doi.org/10.1128/JCM.43.6.3009-3010.2005"">10.1128/JCM.43.6.3009-3010.2005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15184495"">15184495</a>
 著者        Sng LH, Koh TH, Toney SR, Floyd M, Butler WR, Tan BH
 タイトル      Bacteremia caused by Gordonia bronchialis in a patient with sequestrated lung.
 雑誌        J Clin Microbiol 42:2870-1 (2004)
 DOI:<a href=""https://doi.org/10.1128/JCM.42.6.2870-2871.2004"">10.1128/JCM.42.6.2870-2871.2004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21270217"">21270217</a>
 著者        Johnson JA, Onderdonk AB, Cosimi LA, Yawetz S, Lasker BA, Bolcen SJ, Brown JM, Marty FM
 タイトル      Gordonia bronchialis bacteremia and pleural infection: case report and review of the literature.
 雑誌        J Clin Microbiol 49:1662-6 (2011)
 DOI:<a href=""https://doi.org/10.1128/JCM.02121-10"">10.1128/JCM.02121-10</a>"
H01050,Tsukamurella 感染,,,"Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic joint infections, cutaneous infections, tuberculosis-like respiratory infection, and catheter-related bloodstream infections.",感染症,,,"Tsukamurella paurometabola [GN:tpr]
 Tsukamurella tyrosinosolvens [GN:tsm]
 Tsukamurella pulmonis
 Tsukamurella inchonensis
 Tsukamurella strandjordae",,,,"Tsukamurella spp. are resistant to cefoxitin, ampicillin, and amoxicillin/clavulanic acid.",,"PMID:18810513
 著者        Bouza E, Perez-Parra A, Rosal M, Martin-Rabadan P, Rodriguez-Creixems M, Marin M
 タイトル      Tsukamurella: a cause of catheter-related bloodstream infections.
 雑誌        Eur J Clin Microbiol Infect Dis 28:203-10 (2009)
 DOI:10.1007/s10096-008-0607-2
 PMID:12228839
 著者        Schwartz MA, Tabet SR, Collier AC, Wallis CK, Carlson LC, Nguyen TT, Kattar MM, Coyle MB
 タイトル      Central venous catheter-related bacteremia due to Tsukamurella species in the immunocompromised host: a case series and review of the literature.
 雑誌        Clin Infect Dis 35:e72-7 (2002)
 DOI:10.1086/342561","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01050"">H01050</a>",Tsukamurella 感染,"Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic joint infections, cutaneous infections, tuberculosis-like respiratory infection, and catheter-related bloodstream infections.",,,"Tsukamurella paurometabola [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpr"">tpr</a>]
 Tsukamurella tyrosinosolvens [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tsm"">tsm</a>]
 Tsukamurella pulmonis
 Tsukamurella inchonensis
 Tsukamurella strandjordae",,,,"Tsukamurella spp. are resistant to cefoxitin, ampicillin, and amoxicillin/clavulanic acid.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18810513"">18810513</a>
 著者        Bouza E, Perez-Parra A, Rosal M, Martin-Rabadan P, Rodriguez-Creixems M, Marin M
 タイトル      Tsukamurella: a cause of catheter-related bloodstream infections.
 雑誌        Eur J Clin Microbiol Infect Dis 28:203-10 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10096-008-0607-2"">10.1007/s10096-008-0607-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12228839"">12228839</a>
 著者        Schwartz MA, Tabet SR, Collier AC, Wallis CK, Carlson LC, Nguyen TT, Kattar MM, Coyle MB
 タイトル      Central venous catheter-related bacteremia due to Tsukamurella species in the immunocompromised host: a case series and review of the literature.
 雑誌        Clin Infect Dis 35:e72-7 (2002)
 DOI:<a href=""https://doi.org/10.1086/342561"">10.1086/342561</a>"
H01051,Corynebacterium ulcerans 感染症,,,"Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close contact with domestic animals. These C. ulcerans strains produce a diphtheria toxin, which is similar to that of C. diphtheriae, the causative agent of classical diphtheria.",感染症,,,"Corynebacterium ulcerans [GN:cun]
 Diphtheria toxin [KO:K00776]",,,,,MeSH: D003354,"PMID:22124745
 著者        Dias AA, Santos LS, Sabbadini PS, Santos CS, Silva Junior FC, Napoleao F, Nagao PE, Villas-Boas MH, Hirata Junior R, Guaraldi AL
 タイトル      Corynebacterium ulcerans diphtheria: an emerging zoonosis in Brazil and worldwide.
 雑誌        Rev Saude Publica 45:1176-91 (2011)
 DOI:10.1590/S0034-89102011000600021
 PMID:22028605
 著者        Putong N, Agustin G, Pasubillo M, Miyagi K, Dimaano EM
 タイトル      Diphtheria-like Illness due to Corynebacterium Ulcerans infection.
 雑誌        Trop Med Health 39:1-2 (2011)
 DOI:10.2149/tmh.2010-15
 PMID:21801446
 著者        Trost E, Al-Dilaimi A, Papavasiliou P, Schneider J, Viehoever P, Burkovski A, Soares SC, Almeida SS, Dorella FA, Miyoshi A, Azevedo V, Schneider MP, Silva A, Santos CS, Santos LS, Sabbadini P, Dias AA, Hirata R Jr, Mattos-Guaraldi AL, Tauch A
 タイトル      Comparative analysis of two complete Corynebacterium ulcerans genomes and detection of candidate virulence factors.
 雑誌        BMC Genomics 12:383 (2011)
 DOI:10.1186/1471-2164-12-383","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01051"">H01051</a>",Corynebacterium ulcerans 感染症,"Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close contact with domestic animals. These C. ulcerans strains produce a diphtheria toxin, which is similar to that of C. diphtheriae, the causative agent of classical diphtheria.",,,"Corynebacterium ulcerans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cun"">cun</a>]
 Diphtheria toxin [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00776"">K00776</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003354"">D003354</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22124745"">22124745</a>
 著者        Dias AA, Santos LS, Sabbadini PS, Santos CS, Silva Junior FC, Napoleao F, Nagao PE, Villas-Boas MH, Hirata Junior R, Guaraldi AL
 タイトル      Corynebacterium ulcerans diphtheria: an emerging zoonosis in Brazil and worldwide.
 雑誌        Rev Saude Publica 45:1176-91 (2011)
 DOI:<a href=""https://doi.org/10.1590/S0034-89102011000600021"">10.1590/S0034-89102011000600021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028605"">22028605</a>
 著者        Putong N, Agustin G, Pasubillo M, Miyagi K, Dimaano EM
 タイトル      Diphtheria-like Illness due to Corynebacterium Ulcerans infection.
 雑誌        Trop Med Health 39:1-2 (2011)
 DOI:<a href=""https://doi.org/10.2149/tmh.2010-15"">10.2149/tmh.2010-15</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21801446"">21801446</a>
 著者        Trost E, Al-Dilaimi A, Papavasiliou P, Schneider J, Viehoever P, Burkovski A, Soares SC, Almeida SS, Dorella FA, Miyoshi A, Azevedo V, Schneider MP, Silva A, Santos CS, Santos LS, Sabbadini P, Dias AA, Hirata R Jr, Mattos-Guaraldi AL, Tauch A
 タイトル      Comparative analysis of two complete Corynebacterium ulcerans genomes and detection of candidate virulence factors.
 雑誌        BMC Genomics 12:383 (2011)
 DOI:<a href=""https://doi.org/10.1186/1471-2164-12-383"">10.1186/1471-2164-12-383</a>"
H01052,伝染性軟属腫,,,"Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites, and autoinoculation. It is a benign and self-limiting disease, with the majority of lesions spontaneously resolve within 2-4 years without active treatment.",感染症,nt06150  Cytokine-cytokine receptor interaction (viruses),,Molluscum contagiosum virus [GN:T40124],,,,,"ICD-11: 1E76
 ICD-10: B08.1
 MeSH: D008976","PMID:21214122 (description, env_factor)
 著者        Lee R, Schwartz RA
 タイトル      Pediatric molluscum contagiosum: reflections on the last challenging poxvirus infection, Part 1.
 雑誌        Cutis 86:230-6 (2010)
 PMID:16445494 (description, env_factor)
 著者        Brown J, Janniger CK, Schwartz RA, Silverberg NB
 タイトル      Childhood molluscum contagiosum.
 雑誌        Int J Dermatol 45:93-9 (2006)
 DOI:10.1111/j.1365-4632.2006.02737.x
 PMID:15792113 (description, env_factor)
 著者        Smolinski KN, Yan AC
 タイトル      How and when to treat molluscum contagiosum and warts in children.
 雑誌        Pediatr Ann 34:211-21 (2005)
 DOI:10.3928/0090-4481-20050301-10","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01052"">H01052</a>",伝染性軟属腫,"Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites, and autoinoculation. It is a benign and self-limiting disease, with the majority of lesions spontaneously resolve within 2-4 years without active treatment.","<a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)",,"Molluscum contagiosum virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40124"">T40124</a>]",,,,,"ICD-11: 1E76
 ICD-10: B08.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008976"">D008976</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21214122"">21214122</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Lee R, Schwartz RA
 タイトル      Pediatric molluscum contagiosum: reflections on the last challenging poxvirus infection, Part 1.
 雑誌        Cutis 86:230-6 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16445494"">16445494</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Brown J, Janniger CK, Schwartz RA, Silverberg NB
 タイトル      Childhood molluscum contagiosum.
 雑誌        Int J Dermatol 45:93-9 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2006.02737.x"">10.1111/j.1365-4632.2006.02737.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15792113"">15792113</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Smolinski KN, Yan AC
 タイトル      How and when to treat molluscum contagiosum and warts in children.
 雑誌        Pediatr Ann 34:211-21 (2005)
 DOI:<a href=""https://doi.org/10.3928/0090-4481-20050301-10"">10.3928/0090-4481-20050301-10</a>"
H01053,発作性夜間ヘモグロビン尿症,,,"Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators.",血液疾患,,"(PNH1) PIGA [HSA:5277] [KO:K03857]
 (PNH2) PIGT [HSA:51604] [KO:K05292]",,,,"エクリズマブ [DR:D03940]
 ラブリズマブ [DR:D11054]",,"ICD-11: 3A21.0
 ICD-10: D59.5
 OMIM: 300818 615399","PMID:17852463
 著者        Savage WJ, Brodsky RA
 タイトル      New insights into paroxysmal nocturnal hemoglobinuria.
 雑誌        Hematology 12:371-6 (2007)
 DOI:10.1080/10245330701562634
 PMID:18063459
 著者        Brodsky RA
 タイトル      Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.
 雑誌        Blood Rev 22:65-74 (2008)
 DOI:10.1016/j.blre.2007.10.002
 PMID:8500164 (PIGA)
 著者        Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T
 タイトル      Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
 雑誌        Cell 73:703-11 (1993)
 DOI:10.1016/0092-8674(93)90250-t
 PMID:23733340 (PIGT)
 著者        Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H
 タイトル      A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
 雑誌        Blood 122:1312-5 (2013)
 DOI:10.1182/blood-2013-01-481499","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01053"">H01053</a>",発作性夜間ヘモグロビン尿症,"Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators.",,"(PNH1) PIGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5277"">5277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03857"">K03857</a>]
 (PNH2) PIGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51604"">51604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05292"">K05292</a>]",,,,"エクリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03940"">D03940</a>]
 ラブリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11054"">D11054</a>]",,"ICD-11: 3A21.0
 ICD-10: D59.5
 OMIM: <a href=""https://www.omim.org/entry/300818"">300818</a> <a href=""https://www.omim.org/entry/615399"">615399</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17852463"">17852463</a>
 著者        Savage WJ, Brodsky RA
 タイトル      New insights into paroxysmal nocturnal hemoglobinuria.
 雑誌        Hematology 12:371-6 (2007)
 DOI:<a href=""https://doi.org/10.1080/10245330701562634"">10.1080/10245330701562634</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18063459"">18063459</a>
 著者        Brodsky RA
 タイトル      Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.
 雑誌        Blood Rev 22:65-74 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2007.10.002"">10.1016/j.blre.2007.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8500164"">8500164</a> (PIGA)
 著者        Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T
 タイトル      Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
 雑誌        Cell 73:703-11 (1993)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(93)90250-t"">10.1016/0092-8674(93)90250-t</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23733340"">23733340</a> (PIGT)
 著者        Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H
 タイトル      A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
 雑誌        Blood 122:1312-5 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-01-481499"">10.1182/blood-2013-01-481499</a>"
H01054,"シラミ症
 下位グループ    アタマジラミ症
 コロモジラミ症",,,"Pediculosis is the result of infestation by Pediculus humanus capitis (head louse)  and Pediculus humanus corporis (body louse), sucking lice belonging to the family Pediculidae. Head louse is transmitted by close contact or by fomites such as combs. Transmission of body louse occurs mainly through contact with contaminated clothing or bedding. Body louse is major vectors of diseases such as epidemic typhus [DS:H00322], trench fever [DS:H00327], and relapsing fever [DS:H00427].",感染症,,,"Pediculus humanus capitis (head louse)
 Pediculus humanus corporis (body louse) [GN:phu]",,,,"Dichlorodiphenyltrichloroethane (DDT) [CPD:C04623] powder was the treatment of choice during World War II, but the lice began to show resistance to this pesticide during the 1950s.","ICD-11: 1G00
 ICD-10: B85
 MeSH: D010373","PMID:14699358
 著者        Ko CJ, Elston DM
 タイトル      Pediculosis.
 雑誌        J Am Acad Dermatol 50:1-12; quiz 13-4 (2004)
 DOI:10.1016/S0190
 PMID:1693887
 著者        Elgart ML
 タイトル      Pediculosis.
 雑誌        Dermatol Clin 8:219-28 (1990)
 PMID:19104739
 著者        Nutanson I, Steen CJ, Schwartz RA, Janniger CK
 タイトル      Pediculus humanus capitis: an update.
 雑誌        Acta Dermatovenerol Alp Panonica Adriat 17:147-54, 156-7, 159 (2008)
 著者        Bope ET, Kellerman RD.
 タイトル      Conn's Current Therapy
 雑誌        Saunders (2012)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01054"">H01054</a>","シラミ症
 下位グループ    アタマジラミ症
 コロモジラミ症","Pediculosis is the result of infestation by Pediculus humanus capitis (head louse)  and Pediculus humanus corporis (body louse), sucking lice belonging to the family Pediculidae. Head louse is transmitted by close contact or by fomites such as combs. Transmission of body louse occurs mainly through contact with contaminated clothing or bedding. Body louse is major vectors of diseases such as epidemic typhus [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00322],"">H00322],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:trench"">trench</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fever"">fever</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00327],"">H00327],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:relapsing"">relapsing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fever"">fever</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00427]."">H00427].</a>",,,"Pediculus humanus capitis (head louse)
 Pediculus humanus corporis (body louse) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:phu"">phu</a>]",,,,"Dichlorodiphenyltrichloroethane (DDT) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C04623"">C04623</a>] powder was the treatment of choice during World War II, but the lice began to show resistance to this pesticide during the 1950s.","ICD-11: 1G00
 ICD-10: B85
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010373"">D010373</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14699358"">14699358</a>
 著者        Ko CJ, Elston DM
 タイトル      Pediculosis.
 雑誌        J Am Acad Dermatol 50:1-12; quiz 13-4 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0190"">10.1016/S0190</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1693887"">1693887</a>
 著者        Elgart ML
 タイトル      Pediculosis.
 雑誌        Dermatol Clin 8:219-28 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19104739"">19104739</a>
 著者        Nutanson I, Steen CJ, Schwartz RA, Janniger CK
 タイトル      Pediculus humanus capitis: an update.
 雑誌        Acta Dermatovenerol Alp Panonica Adriat 17:147-54, 156-7, 159 (2008)
 著者        Bope ET, Kellerman RD.
 タイトル      Conn's Current Therapy
 雑誌        Saunders (2012)"
H01055,腎虫症,,,Dioctophyma renale is a parasite of the Dioctophymidae family that principally occurs in dogs or other carnivores. Humans are accidental definitive hosts. Ingested Dioctophyma larvae migrate into the right kidney where they mature. Clinical presentation of D. renale infection is unspecific.,感染症,,,Dioctophyme renale,,,,,"ICD-11: 1F9Z
 ICD-10: B83.8
 MeSH: D017189","PMID:21158627
 著者        Li G, Liu C, Li F, Zhou M, Liu X, Niu Y
 タイトル      Fatal bilateral dioctophymatosis.
 雑誌        J Parasitol 96:1152-4 (2010)
 DOI:10.1645/GE-2132.1
 PMID:12566820
 著者        Ignjatovic I, Stojkovic I, Kutlesic C, Tasic S
 タイトル      Infestation of the human kidney with Dioctophyma renale.
 雑誌        Urol Int 70:70-3 (2003)
 DOI:10.1159/000067695","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01055"">H01055</a>",腎虫症,Dioctophyma renale is a parasite of the Dioctophymidae family that principally occurs in dogs or other carnivores. Humans are accidental definitive hosts. Ingested Dioctophyma larvae migrate into the right kidney where they mature. Clinical presentation of D. renale infection is unspecific.,,,Dioctophyme renale,,,,,"ICD-11: 1F9Z
 ICD-10: B83.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017189"">D017189</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21158627"">21158627</a>
 著者        Li G, Liu C, Li F, Zhou M, Liu X, Niu Y
 タイトル      Fatal bilateral dioctophymatosis.
 雑誌        J Parasitol 96:1152-4 (2010)
 DOI:<a href=""https://doi.org/10.1645/GE-2132.1"">10.1645/GE-2132.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12566820"">12566820</a>
 著者        Ignjatovic I, Stojkovic I, Kutlesic C, Tasic S
 タイトル      Infestation of the human kidney with Dioctophyma renale.
 雑誌        Urol Int 70:70-3 (2003)
 DOI:<a href=""https://doi.org/10.1159/000067695"">10.1159/000067695</a>"
H01056,"トキソカラ症
 下位グループ    幼虫体内移行症
 眼幼虫移行症
 潜在型トキソカラ症",,,"Human toxocariasis is the disease caused by infection of zoonotic roundworms Toxocara canis and T. cati, whose definitive hosts are dogs and cats, respectively. Humans become infected by ingesting either embryonated eggs from soil or raw vegetables. Toxocara larval migration in the body can cause four clinical syndromes, namely visceral larva migrans, ocular larva migrans, and covert/common toxocariasis. These are frequently associated with fever, abdominal pain, cough, wheeze, and hepatomegaly. Ocular larva migrans can lead to visual loss.",感染症,,,"Toxocara canis
 Toxocara cati",,,,,"ICD-11: 1F6D
 ICD-10: B83.0
 MeSH: D014120 D007816","PMID:20149289
 著者        Rubinsky-Elefant G, Hirata CE, Yamamoto JH, Ferreira MU
 タイトル      Human toxocariasis: diagnosis, worldwide seroprevalences and clinical expression of the systemic and ocular forms.
 雑誌        Ann Trop Med Parasitol 104:3-23 (2010)
 DOI:10.1179/136485910X12607012373957
 PMID:11301585
 著者        Magnaval JF, Glickman LT, Dorchies P, Morassin B
 タイトル      Highlights of human toxocariasis.
 雑誌        Korean J Parasitol 39:1-11 (2001)
 DOI:10.3347/kjp.2001.39.1.1
 PMID:9347221
 著者        Overgaauw PA
 タイトル      Aspects of Toxocara epidemiology: human toxocarosis.
 雑誌        Crit Rev Microbiol 23:215-31 (1997)
 DOI:10.3109/10408419709115137
 PMID:9347222
 著者        Overgaauw PA
 タイトル      Aspects of Toxocara epidemiology: toxocarosis in dogs and cats.
 雑誌        Crit Rev Microbiol 23:233-51 (1997)
 DOI:10.3109/10408419709115138","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01056"">H01056</a>","トキソカラ症
 下位グループ    幼虫体内移行症
 眼幼虫移行症
 潜在型トキソカラ症","Human toxocariasis is the disease caused by infection of zoonotic roundworms Toxocara canis and T. cati, whose definitive hosts are dogs and cats, respectively. Humans become infected by ingesting either embryonated eggs from soil or raw vegetables. Toxocara larval migration in the body can cause four clinical syndromes, namely visceral larva migrans, ocular larva migrans, and covert/common toxocariasis. These are frequently associated with fever, abdominal pain, cough, wheeze, and hepatomegaly. Ocular larva migrans can lead to visual loss.",,,"Toxocara canis
 Toxocara cati",,,,,"ICD-11: 1F6D
 ICD-10: B83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014120"">D014120</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007816"">D007816</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20149289"">20149289</a>
 著者        Rubinsky-Elefant G, Hirata CE, Yamamoto JH, Ferreira MU
 タイトル      Human toxocariasis: diagnosis, worldwide seroprevalences and clinical expression of the systemic and ocular forms.
 雑誌        Ann Trop Med Parasitol 104:3-23 (2010)
 DOI:<a href=""https://doi.org/10.1179/136485910X12607012373957"">10.1179/136485910X12607012373957</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11301585"">11301585</a>
 著者        Magnaval JF, Glickman LT, Dorchies P, Morassin B
 タイトル      Highlights of human toxocariasis.
 雑誌        Korean J Parasitol 39:1-11 (2001)
 DOI:<a href=""https://doi.org/10.3347/kjp.2001.39.1.1"">10.3347/kjp.2001.39.1.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9347221"">9347221</a>
 著者        Overgaauw PA
 タイトル      Aspects of Toxocara epidemiology: human toxocarosis.
 雑誌        Crit Rev Microbiol 23:215-31 (1997)
 DOI:<a href=""https://doi.org/10.3109/10408419709115137"">10.3109/10408419709115137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9347222"">9347222</a>
 著者        Overgaauw PA
 タイトル      Aspects of Toxocara epidemiology: toxocarosis in dogs and cats.
 雑誌        Crit Rev Microbiol 23:233-51 (1997)
 DOI:<a href=""https://doi.org/10.3109/10408419709115138"">10.3109/10408419709115138</a>"
H01057,顎口虫症,,,"Gnathostomiasis is a parasitic infection caused by the helminths Gnathostoma species, which are endemic to tropical and subtropical regions. Humans usually become infected by eating raw freshwater fish. The clinical presentation is characterized by localized, intermittent, migratory swellings of the skin and subcutaneous tissues, often in association with localized pain, pruritus, and erythema.",感染症,,,"Gnathostoma spinigerum
 Gnathostoma hispidum
 Gnathostoma doloresi",,,,"For many years, surgical excision of the larvae remained the only effective management.","ICD-11: 1F67
 ICD-10: B83.1
 MeSH: D058429","PMID:19597010
 著者        Herman JS, Chiodini PL
 タイトル      Gnathostomiasis, another emerging imported disease.
 雑誌        Clin Microbiol Rev 22:484-92 (2009)
 DOI:10.1128/CMR.00003-09
 PMID:15825144
 著者        Ligon BL
 タイトル      Gnathostomiasis: a review of a previously localized zoonosis now crossing numerous geographical boundaries.
 雑誌        Semin Pediatr Infect Dis 16:137-43 (2005)
 DOI:10.1053/j.spid.2005.01.002
 PMID:8448317
 著者        Rusnak JM, Lucey DR
 タイトル      Clinical gnathostomiasis: case report and review of the English-language literature.
 雑誌        Clin Infect Dis 16:33-50 (1993)
 DOI:10.1093/clinids/16.1.33","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01057"">H01057</a>",顎口虫症,"Gnathostomiasis is a parasitic infection caused by the helminths Gnathostoma species, which are endemic to tropical and subtropical regions. Humans usually become infected by eating raw freshwater fish. The clinical presentation is characterized by localized, intermittent, migratory swellings of the skin and subcutaneous tissues, often in association with localized pain, pruritus, and erythema.",,,"Gnathostoma spinigerum
 Gnathostoma hispidum
 Gnathostoma doloresi",,,,"For many years, surgical excision of the larvae remained the only effective management.","ICD-11: 1F67
 ICD-10: B83.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058429"">D058429</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597010"">19597010</a>
 著者        Herman JS, Chiodini PL
 タイトル      Gnathostomiasis, another emerging imported disease.
 雑誌        Clin Microbiol Rev 22:484-92 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00003-09"">10.1128/CMR.00003-09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15825144"">15825144</a>
 著者        Ligon BL
 タイトル      Gnathostomiasis: a review of a previously localized zoonosis now crossing numerous geographical boundaries.
 雑誌        Semin Pediatr Infect Dis 16:137-43 (2005)
 DOI:<a href=""https://doi.org/10.1053/j.spid.2005.01.002"">10.1053/j.spid.2005.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8448317"">8448317</a>
 著者        Rusnak JM, Lucey DR
 タイトル      Clinical gnathostomiasis: case report and review of the English-language literature.
 雑誌        Clin Infect Dis 16:33-50 (1993)
 DOI:<a href=""https://doi.org/10.1093/clinids/16.1.33"">10.1093/clinids/16.1.33</a>"
H01058,アニサキス症,,,"Anisakiasis is an acute gastrointestinal disease caused by infection with the larval stages of herring worm (Anisakis spp.) or the cod worm (Pseudoterranova decipiens). Humans can be accidental hosts by consuming raw or undercooked fish. Anisakiasis occurs throughout the world, with foci in north Asia and western Europe. After ingestion, larvae penetrate the gastrointestinal mucosa and there is severe abdominal pain, with nausea and vomiting. Some patients develop syndromes exhibiting clinical manifestations of allergy.",感染症,,,"Anisakis simplex
 Pseudoterranova decipiens
 Anisakis pegreff",,,,,"ICD-11: 1F61
 ICD-10: B81.0
 MeSH: D017129","PMID:19559535
 著者        Dorny P, Praet N, Deckers N, Gabriel S
 タイトル      Emerging food-borne parasites.
 雑誌        Vet Parasitol 163:196-206 (2009)
 DOI:10.1016/j.vetpar.2009.05.026
 PMID:16143336
 著者        Chai JY, Darwin Murrell K, Lymbery AJ
 タイトル      Fish-borne parasitic zoonoses: status and issues.
 雑誌        Int J Parasitol 35:1233-54 (2005)
 DOI:10.1016/j.ijpara.2005.07.013
 PMID:16206105
 著者        Nawa Y, Hatz C, Blum J
 タイトル      Sushi delights and parasites: the risk of fishborne and foodborne parasitic zoonoses in Asia.
 雑誌        Clin Infect Dis 41:1297-303 (2005)
 DOI:10.1086/496920","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01058"">H01058</a>",アニサキス症,"Anisakiasis is an acute gastrointestinal disease caused by infection with the larval stages of herring worm (Anisakis spp.) or the cod worm (Pseudoterranova decipiens). Humans can be accidental hosts by consuming raw or undercooked fish. Anisakiasis occurs throughout the world, with foci in north Asia and western Europe. After ingestion, larvae penetrate the gastrointestinal mucosa and there is severe abdominal pain, with nausea and vomiting. Some patients develop syndromes exhibiting clinical manifestations of allergy.",,,"Anisakis simplex
 Pseudoterranova decipiens
 Anisakis pegreff",,,,,"ICD-11: 1F61
 ICD-10: B81.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017129"">D017129</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19559535"">19559535</a>
 著者        Dorny P, Praet N, Deckers N, Gabriel S
 タイトル      Emerging food-borne parasites.
 雑誌        Vet Parasitol 163:196-206 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.vetpar.2009.05.026"">10.1016/j.vetpar.2009.05.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16143336"">16143336</a>
 著者        Chai JY, Darwin Murrell K, Lymbery AJ
 タイトル      Fish-borne parasitic zoonoses: status and issues.
 雑誌        Int J Parasitol 35:1233-54 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ijpara.2005.07.013"">10.1016/j.ijpara.2005.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16206105"">16206105</a>
 著者        Nawa Y, Hatz C, Blum J
 タイトル      Sushi delights and parasites: the risk of fishborne and foodborne parasitic zoonoses in Asia.
 雑誌        Clin Infect Dis 41:1297-303 (2005)
 DOI:<a href=""https://doi.org/10.1086/496920"">10.1086/496920</a>"
H01059,カプノサイトファーガ・カニモルサス感染症,,,"Capnocytophaga canimorsus is a fastidious, gram-negative commensal bacterium in the normal oral flora of dogs and cats. The bacterium has been isolated from humans infected by dog, or cat bites, scratches or licks. The infection presents as fulminant sepsis, endocarditis, and purulent arthritis associated with high mortality and most cases occur in immunocompromised patients.",感染症,,,Capnocytophaga canimorsus [GN:ccm],,,,"Aztronam, polymyxin, fosfomycin, trimethoprim/sulfamethoxazole and aminoglycosides are not effective against C. canimorsus.",,"PMID:19268498
 著者        Gaastra W, Lipman LJ
 タイトル      Capnocytophaga canimorsus.
 雑誌        Vet Microbiol 140:339-46 (2010)
 DOI:10.1016/j.vetmic.2009.01.040
 PMID:20407357
 著者        Stiegler D, Gilbert JD, Warner MS, Byard RW
 タイトル      Fatal dog bite in the absence of significant trauma: Capnocytophaga canimorsus infection and unexpected death.
 雑誌        Am J Forensic Med Pathol 31:198-9 (2010)
 DOI:10.1097/PAF.0b013e3181dfc98b
 PMID:14970251
 著者        Sandoe JA
 タイトル      Capnocytophaga canimorsus endocarditis.
 雑誌        J Med Microbiol 53:245-8 (2004)
 DOI:10.1099/jmm.0.05274-0
 PMID:7588825
 著者        Valtonen M, Lauhio A, Carlson P, Multanen J, Sivonen A, Vaara M, Lahdevirta J
 タイトル      Capnocytophaga canimorsus septicemia: fifth report of a cat-associated infection and five other cases.
 雑誌        Eur J Clin Microbiol Infect Dis 14:520-3 (1995)
 DOI:10.1007/BF02113430","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01059"">H01059</a>",カプノサイトファーガ・カニモルサス感染症,"Capnocytophaga canimorsus is a fastidious, gram-negative commensal bacterium in the normal oral flora of dogs and cats. The bacterium has been isolated from humans infected by dog, or cat bites, scratches or licks. The infection presents as fulminant sepsis, endocarditis, and purulent arthritis associated with high mortality and most cases occur in immunocompromised patients.",,,"Capnocytophaga canimorsus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ccm"">ccm</a>]",,,,"Aztronam, polymyxin, fosfomycin, trimethoprim/sulfamethoxazole and aminoglycosides are not effective against C. canimorsus.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19268498"">19268498</a>
 著者        Gaastra W, Lipman LJ
 タイトル      Capnocytophaga canimorsus.
 雑誌        Vet Microbiol 140:339-46 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.01.040"">10.1016/j.vetmic.2009.01.040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20407357"">20407357</a>
 著者        Stiegler D, Gilbert JD, Warner MS, Byard RW
 タイトル      Fatal dog bite in the absence of significant trauma: Capnocytophaga canimorsus infection and unexpected death.
 雑誌        Am J Forensic Med Pathol 31:198-9 (2010)
 DOI:<a href=""https://doi.org/10.1097/PAF.0b013e3181dfc98b"">10.1097/PAF.0b013e3181dfc98b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14970251"">14970251</a>
 著者        Sandoe JA
 タイトル      Capnocytophaga canimorsus endocarditis.
 雑誌        J Med Microbiol 53:245-8 (2004)
 DOI:<a href=""https://doi.org/10.1099/jmm.0.05274-0"">10.1099/jmm.0.05274-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7588825"">7588825</a>
 著者        Valtonen M, Lauhio A, Carlson P, Multanen J, Sivonen A, Vaara M, Lahdevirta J
 タイトル      Capnocytophaga canimorsus septicemia: fifth report of a cat-associated infection and five other cases.
 雑誌        Eur J Clin Microbiol Infect Dis 14:520-3 (1995)
 DOI:<a href=""https://doi.org/10.1007/BF02113430"">10.1007/BF02113430</a>"
H01060,"バベシア症;
 ピロプラスマ症",,,"Babesiosis is a malaria-like infection of red blood cells caused by the protozoan parasite Babesia species. It is a well-recognized veterinary disease in cattle, horses and dogs but recently has gained attention as an emerging zoonotic disease problem. Babesia are transmitted by ixodid ticks and infection of the host leads to anemia, hyperbilirubinuria, hemoglobinuria, and possibly organ failure.",感染症,,,"Babesia microti [GN:bmic]
 Babesia divergens
 Babesia bovis [GN:bbo]
 Babesia canis
 Babesia bigemina [GN:bbig]
 Babesia duncani",,,,Vector: Ixodes scapularis [GN:isc],"ICD-11: 1F52
 ICD-10: B60.0
 MeSH: D001404","PMID:18755385
 著者        Vannier E, Gewurz BE, Krause PJ
 タイトル      Human babesiosis.
 雑誌        Infect Dis Clin North Am 22:469-88, viii-ix (2008)
 DOI:10.1016/j.idc.2008.03.010
 PMID:18440005
 著者        Hunfeld KP, Hildebrandt A, Gray JS
 タイトル      Babesiosis: recent insights into an ancient disease.
 雑誌        Int J Parasitol 38:1219-37 (2008)
 DOI:10.1016/j.ijpara.2008.03.001
 PMID:17691604
 著者        Genchi C
 タイトル      Human babesiosis, an emerging zoonosis.
 雑誌        Parassitologia 49 Suppl 1:29-31 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01060"">H01060</a>","バベシア症;
 ピロプラスマ症","Babesiosis is a malaria-like infection of red blood cells caused by the protozoan parasite Babesia species. It is a well-recognized veterinary disease in cattle, horses and dogs but recently has gained attention as an emerging zoonotic disease problem. Babesia are transmitted by ixodid ticks and infection of the host leads to anemia, hyperbilirubinuria, hemoglobinuria, and possibly organ failure.",,,"Babesia microti [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmic"">bmic</a>]
 Babesia divergens
 Babesia bovis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbo"">bbo</a>]
 Babesia canis
 Babesia bigemina [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbig"">bbig</a>]
 Babesia duncani",,,,"Vector: Ixodes scapularis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:isc"">isc</a>]","ICD-11: 1F52
 ICD-10: B60.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001404"">D001404</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18755385"">18755385</a>
 著者        Vannier E, Gewurz BE, Krause PJ
 タイトル      Human babesiosis.
 雑誌        Infect Dis Clin North Am 22:469-88, viii-ix (2008)
 DOI:<a href=""https://doi.org/10.1016/j.idc.2008.03.010"">10.1016/j.idc.2008.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18440005"">18440005</a>
 著者        Hunfeld KP, Hildebrandt A, Gray JS
 タイトル      Babesiosis: recent insights into an ancient disease.
 雑誌        Int J Parasitol 38:1219-37 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ijpara.2008.03.001"">10.1016/j.ijpara.2008.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17691604"">17691604</a>
 著者        Genchi C
 タイトル      Human babesiosis, an emerging zoonosis.
 雑誌        Parassitologia 49 Suppl 1:29-31 (2007)"
H01061,"マンソネラ症
 上位グループ    フィラリア症 [DS:H02028]",,,"Mansonelliasis is one of the filarial nematode infections widespread in many parts of Sub-Saharan Africa and in parts of Central and South America. The nematode, Mansonella perstans, is transmitted by tiny blood-sucking flies (biting midges). Infections are usually asymptomatic with no distinct and specific clinical picture but may cause transient upper abdominal pain, subcutaneous swellings, eosinophilia, and skin rashes.",感染症,,,Mansonella perstans,,,,Vector: genus Culicoides (biting midges),"ICD-11: 1F66.1
 ICD-10: B74.4
 MeSH: D008368","PMID:20152790
 著者        Simonsen PE, Onapa AW, Asio SM
 タイトル      Mansonella perstans filariasis in Africa.
 雑誌        Acta Trop 120 Suppl 1:S109-20 (2011)
 DOI:10.1016/j.actatropica.2010.01.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01061"">H01061</a>","マンソネラ症
 上位グループ    フィラリア症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02028"">H02028</a>]","Mansonelliasis is one of the filarial nematode infections widespread in many parts of Sub-Saharan Africa and in parts of Central and South America. The nematode, Mansonella perstans, is transmitted by tiny blood-sucking flies (biting midges). Infections are usually asymptomatic with no distinct and specific clinical picture but may cause transient upper abdominal pain, subcutaneous swellings, eosinophilia, and skin rashes.",,,Mansonella perstans,,,,Vector: genus Culicoides (biting midges),"ICD-11: 1F66.1
 ICD-10: B74.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008368"">D008368</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20152790"">20152790</a>
 著者        Simonsen PE, Onapa AW, Asio SM
 タイトル      Mansonella perstans filariasis in Africa.
 雑誌        Acta Trop 120 Suppl 1:S109-20 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2010.01.014"">10.1016/j.actatropica.2010.01.014</a>"
H01062,ヒストプラスマ症,,,"Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum that occurs in temperate and tropical climates. It is one of the most frequent invasive fungal infections in immunocompromised patients or patients receiving tumor necrosis factor (TNF) blockers. Most affected patients present with pneumonitis, and sometimes the disease may be disseminated from the lungs to other organs.",感染症,,,"Histoplasma capsulatum [GN:aje]
 Tumor necrosis factor (TNF) blockers [DR:D02598 D02597 D00742]",,,イトラコナゾール [DR:D00350],,"ICD-11: 1F2A
 ICD-10: B39.9
 MeSH: D006660","PMID:22025021
 著者        Gupta AO, Singh N
 タイトル      Immune reconstitution syndrome and fungal infections.
 雑誌        Curr Opin Infect Dis 24:527-33 (2011)
 DOI:10.1097/QCO.0b013e32834ab20a
 PMID:22196208
 著者        Perfect JR
 タイトル      The impact of the host on fungal infections.
 雑誌        Am J Med 125:S39-51 (2012)
 DOI:10.1016/j.amjmed.2011.10.010
 PMID:19951231 (env_factor, drug)
 著者        Hage CA, Bowyer S, Tarvin SE, Helper D, Kleiman MB, Joseph Wheat L
 タイトル      Recognition, diagnosis, and treatment of histoplasmosis complicating tumor necrosis factor blocker therapy.
 雑誌        Clin Infect Dis 50:85-92 (2010)
 DOI:10.1086/648724
 PMID:19843232
 著者        Jazwinski A, Naggie S, Perfect J
 タイトル      Immune reconstitution syndrome in a patient with disseminated histoplasmosis and steroid taper: maintaining the perfect balance.
 雑誌        Mycoses 54:270-2 (2011)
 DOI:10.1111/j.1439-0507.2009.01796.x
 PMID:17409220 (marker)
 著者        LeMonte A, Egan L, Connolly P, Durkin M, Wheat LJ
 タイトル      Evaluation of the IMMY ALPHA Histoplasma antigen enzyme immunoassay for diagnosis of histoplasmosis marked by antigenuria.
 雑誌        Clin Vaccine Immunol 14:802-3 (2007)
 DOI:10.1128/CVI.00035-07","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01062"">H01062</a>",ヒストプラスマ症,"Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum that occurs in temperate and tropical climates. It is one of the most frequent invasive fungal infections in immunocompromised patients or patients receiving tumor necrosis factor (TNF) blockers. Most affected patients present with pneumonitis, and sometimes the disease may be disseminated from the lungs to other organs.",,,"Histoplasma capsulatum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aje"">aje</a>]
 Tumor necrosis factor (TNF) blockers [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00742"">D00742</a>]",,,"イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F2A
 ICD-10: B39.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006660"">D006660</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22025021"">22025021</a>
 著者        Gupta AO, Singh N
 タイトル      Immune reconstitution syndrome and fungal infections.
 雑誌        Curr Opin Infect Dis 24:527-33 (2011)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32834ab20a"">10.1097/QCO.0b013e32834ab20a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22196208"">22196208</a>
 著者        Perfect JR
 タイトル      The impact of the host on fungal infections.
 雑誌        Am J Med 125:S39-51 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.amjmed.2011.10.010"">10.1016/j.amjmed.2011.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19951231"">19951231</a> (env_factor, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Hage CA, Bowyer S, Tarvin SE, Helper D, Kleiman MB, Joseph Wheat L
 タイトル      Recognition, diagnosis, and treatment of histoplasmosis complicating tumor necrosis factor blocker therapy.
 雑誌        Clin Infect Dis 50:85-92 (2010)
 DOI:<a href=""https://doi.org/10.1086/648724"">10.1086/648724</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19843232"">19843232</a>
 著者        Jazwinski A, Naggie S, Perfect J
 タイトル      Immune reconstitution syndrome in a patient with disseminated histoplasmosis and steroid taper: maintaining the perfect balance.
 雑誌        Mycoses 54:270-2 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1439-0507.2009.01796.x"">10.1111/j.1439-0507.2009.01796.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17409220"">17409220</a> (marker)
 著者        LeMonte A, Egan L, Connolly P, Durkin M, Wheat LJ
 タイトル      Evaluation of the IMMY ALPHA Histoplasma antigen enzyme immunoassay for diagnosis of histoplasmosis marked by antigenuria.
 雑誌        Clin Vaccine Immunol 14:802-3 (2007)
 DOI:<a href=""https://doi.org/10.1128/CVI.00035-07"">10.1128/CVI.00035-07</a>"
H01063,ヒトメタニューモウイルス感染,,,"Human metapneumovirus (hMPV) is an emerging human respiratory pathogen first reported in 2001. hMPV is widely distributed that nearly all individuals have been exposed to the virus by age of 5 years. It causes mild to severe cough, bronchiolitis, and pneumonia and these symptoms cannot be distinguished from those caused by the respiratory syncytial virus, influenza and parainfluenza viruses.",感染症,,,Human metapneumovirus [GN:T40095],,,,,ICD-11: CA40.13,"PMID:15575039 (description, env_factor)
 著者        Alto WA
 タイトル      Human metapneumovirus: a newly described respiratory tract pathogen.
 雑誌        J Am Board Fam Pract 17:466-9 (2004)
 DOI:10.3122/jabfm.17.6.466
 PMID:12821817 (description, env_factor)
 著者        Kahn JS
 タイトル      Human metapneumovirus: a newly emerging respiratory pathogen.
 雑誌        Curr Opin Infect Dis 16:255-8 (2003)
 DOI:10.1097/01.qco.0000073776.11390.bb","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01063"">H01063</a>",ヒトメタニューモウイルス感染,"Human metapneumovirus (hMPV) is an emerging human respiratory pathogen first reported in 2001. hMPV is widely distributed that nearly all individuals have been exposed to the virus by age of 5 years. It causes mild to severe cough, bronchiolitis, and pneumonia and these symptoms cannot be distinguished from those caused by the respiratory syncytial virus, influenza and parainfluenza viruses.",,,"Human metapneumovirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40095"">T40095</a>]",,,,,ICD-11: CA40.13,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15575039"">15575039</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Alto WA
 タイトル      Human metapneumovirus: a newly described respiratory tract pathogen.
 雑誌        J Am Board Fam Pract 17:466-9 (2004)
 DOI:<a href=""https://doi.org/10.3122/jabfm.17.6.466"">10.3122/jabfm.17.6.466</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12821817"">12821817</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Kahn JS
 タイトル      Human metapneumovirus: a newly emerging respiratory pathogen.
 雑誌        Curr Opin Infect Dis 16:255-8 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.qco.0000073776.11390.bb"">10.1097/01.qco.0000073776.11390.bb</a>"
H01064,Simkania negevensis 感染,,,Simkania negevensis is a recently found Chlamydia-like organism. It is associated with respiratory diseases such as pneumonia in adults and bronchiolitis in infants.,感染症,,,Simkania negevensis [GN:sng],,,,,,"PMID:17852931 (description, env_factor)
 著者        Heiskanen-Kosma T, Paldanius M, Korppi M
 タイトル      Simkania negevensis may be a true cause of community acquired pneumonia in children.
 雑誌        Scand J Infect Dis 40:127-30 (2008)
 DOI:10.1080/00365540701558680
 PMID:12941393 (description, env_factor)
 著者        Friedman MG, Dvoskin B, Kahane S
 タイトル      Infections with the chlamydia-like microorganism Simkania negevensis, a possible emerging pathogen.
 雑誌        Microbes Infect 5:1013-21 (2003)
 DOI:10.1016/S1286-4579(03)00188-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01064"">H01064</a>",Simkania negevensis 感染,Simkania negevensis is a recently found Chlamydia-like organism. It is associated with respiratory diseases such as pneumonia in adults and bronchiolitis in infants.,,,"Simkania negevensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sng"">sng</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17852931"">17852931</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Heiskanen-Kosma T, Paldanius M, Korppi M
 タイトル      Simkania negevensis may be a true cause of community acquired pneumonia in children.
 雑誌        Scand J Infect Dis 40:127-30 (2008)
 DOI:<a href=""https://doi.org/10.1080/00365540701558680"">10.1080/00365540701558680</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12941393"">12941393</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Friedman MG, Dvoskin B, Kahane S
 タイトル      Infections with the chlamydia-like microorganism Simkania negevensis, a possible emerging pathogen.
 雑誌        Microbes Infect 5:1013-21 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(03)00188-6"">10.1016/S1286-4579(03)00188-6</a>"
H01065,5炭糖尿症,,,"Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically benign. Mutations have been identified in the DCXR gene encoding L-xylulose reductase, which are predicted to lead to loss of enzyme activity. In pentosuria, failure to convert L-xylulose to xylitol leads to accumulation of L-xylulose.",先天性代謝異常症,,DCXR [HSA:51181] [KO:K03331],,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 MeSH: C536652
 OMIM: 260800","PMID:22042873
 著者        Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG
 タイトル      Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
 雑誌        Proc Natl Acad Sci U S A 108:18313-7 (2011)
 DOI:10.1073/pnas.1115888108
 PMID:4073836
 著者        Lane AB, Jenkins T
 タイトル      Human L-xylulose reductase variation: family and population studies.
 雑誌        Ann Hum Genet 49:227-35 (1985)
 DOI:10.1111/j.1469-1809.1985.tb01696.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01065"">H01065</a>",5炭糖尿症,"Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically benign. Mutations have been identified in the DCXR gene encoding L-xylulose reductase, which are predicted to lead to loss of enzyme activity. In pentosuria, failure to convert L-xylulose to xylitol leads to accumulation of L-xylulose.",,"DCXR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51181"">51181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03331"">K03331</a>]",,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536652"">C536652</a>
 OMIM: <a href=""https://www.omim.org/entry/260800"">260800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22042873"">22042873</a>
 著者        Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG
 タイトル      Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
 雑誌        Proc Natl Acad Sci U S A 108:18313-7 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1115888108"">10.1073/pnas.1115888108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4073836"">4073836</a>
 著者        Lane AB, Jenkins T
 タイトル      Human L-xylulose reductase variation: family and population studies.
 雑誌        Ann Hum Genet 49:227-35 (1985)
 DOI:<a href=""https://doi.org/10.1111/j.1469-1809.1985.tb01696.x"">10.1111/j.1469-1809.1985.tb01696.x</a>"
H01066,Bordetella petrii 感染,,,"Bordetella petrii is one of the members of the genus Bordetella, that includes human pathogen B. pertussis. Unlike other members of Bordetella, B. petrii is an environmental species but sometimes can infect immunocompetent humans.",感染症,,,Bordetella petrii [GN:bpt],,,,,MeSH: D001885,"PMID:21470449
 著者        Le Coustumier A, Njamkepo E, Cattoir V, Guillot S, Guiso N
 タイトル      Bordetella petrii infection with long-lasting persistence in human.
 雑誌        Emerg Infect Dis 17:612-8 (2011)
 DOI:10.3201/eid1704.101480
 PMID:17314377
 著者        Stark D, Riley LA, Harkness J, Marriott D
 タイトル      Bordetella petrii from a clinical sample in Australia: isolation and molecular identification.
 雑誌        J Med Microbiol 56:435-7 (2007)
 DOI:10.1099/jmm.0.46976-0
 PMID:18826580
 著者        Gross R, Guzman CA, Sebaihia M, dos Santos VA, Pieper DH, Koebnik R, Lechner M, Bartels D, Buhrmester J, Choudhuri JV, Ebensen T, Gaigalat L, Herrmann S, Khachane AN, Larisch C, Link S, Linke B, Meyer F, Mormann S, Nakunst D, Ruckert C, Schneiker-Bekel S, Schulze K, Vorholter FJ, Yevsa T, Engle JT, Goldman WE, Puhler A, Gobel UB, Goesmann A, Blocker H, Kaiser O, Martinez-Arias R
 タイトル      The missing link: Bordetella petrii is endowed with both the metabolic versatility of environmental bacteria and virulence traits of pathogenic Bordetellae.
 雑誌        BMC Genomics 9:449 (2008)
 DOI:10.1186/1471-2164-9-449
 PMID:15831828
 著者        Mattoo S, Cherry JD
 タイトル      Molecular pathogenesis, epidemiology, and clinical manifestations of respiratory infections due to Bordetella pertussis and other Bordetella subspecies.
 雑誌        Clin Microbiol Rev 18:326-82 (2005)
 DOI:10.1128/CMR.18.2.326-382.2005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01066"">H01066</a>",Bordetella petrii 感染,"Bordetella petrii is one of the members of the genus Bordetella, that includes human pathogen B. pertussis. Unlike other members of Bordetella, B. petrii is an environmental species but sometimes can infect immunocompetent humans.",,,"Bordetella petrii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bpt"">bpt</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001885"">D001885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21470449"">21470449</a>
 著者        Le Coustumier A, Njamkepo E, Cattoir V, Guillot S, Guiso N
 タイトル      Bordetella petrii infection with long-lasting persistence in human.
 雑誌        Emerg Infect Dis 17:612-8 (2011)
 DOI:<a href=""https://doi.org/10.3201/eid1704.101480"">10.3201/eid1704.101480</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17314377"">17314377</a>
 著者        Stark D, Riley LA, Harkness J, Marriott D
 タイトル      Bordetella petrii from a clinical sample in Australia: isolation and molecular identification.
 雑誌        J Med Microbiol 56:435-7 (2007)
 DOI:<a href=""https://doi.org/10.1099/jmm.0.46976-0"">10.1099/jmm.0.46976-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18826580"">18826580</a>
 著者        Gross R, Guzman CA, Sebaihia M, dos Santos VA, Pieper DH, Koebnik R, Lechner M, Bartels D, Buhrmester J, Choudhuri JV, Ebensen T, Gaigalat L, Herrmann S, Khachane AN, Larisch C, Link S, Linke B, Meyer F, Mormann S, Nakunst D, Ruckert C, Schneiker-Bekel S, Schulze K, Vorholter FJ, Yevsa T, Engle JT, Goldman WE, Puhler A, Gobel UB, Goesmann A, Blocker H, Kaiser O, Martinez-Arias R
 タイトル      The missing link: Bordetella petrii is endowed with both the metabolic versatility of environmental bacteria and virulence traits of pathogenic Bordetellae.
 雑誌        BMC Genomics 9:449 (2008)
 DOI:<a href=""https://doi.org/10.1186/1471-2164-9-449"">10.1186/1471-2164-9-449</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15831828"">15831828</a>
 著者        Mattoo S, Cherry JD
 タイトル      Molecular pathogenesis, epidemiology, and clinical manifestations of respiratory infections due to Bordetella pertussis and other Bordetella subspecies.
 雑誌        Clin Microbiol Rev 18:326-82 (2005)
 DOI:<a href=""https://doi.org/10.1128/CMR.18.2.326-382.2005"">10.1128/CMR.18.2.326-382.2005</a>"
H01067,Proteus mirabilis 感染,,,"Proteus mirabilis is a motile gram-negative bacterium within the Enterobacteriaceae, that inhabits the environment. It causes a number of infections including those of the skin, respiratory tract, wounds, and urinary tract. Pyelonephritis caused by the bacterium primarily affects individuals with indwelling catheters or structural abnormalities of the urinary tract.",感染症,,,"Proteus mirabilis [GN:pmr pmib]
 Urea-inducible urease [pmr:PMI3685 PMI3684 PMI3683] [KO:K01428 K01429 K01430]
 Amino acid deaminase [pmr:PMI2834]
 Hemolysin [pmr:PMI2057] [KO:K11016]
 ZapA metalloprotease (IgA-degrading complex) [pmr:PMI0279] [KO:K01406]",,,,,MeSH: D011512,"PMID:21921687
 著者        Jacobsen SM, Shirtliff ME
 タイトル      Proteus mirabilis biofilms and catheter-associated urinary tract infections.
 雑誌        Virulence 2:460-5 (2011)
 DOI:10.4161/viru.2.5.17783
 PMID:11099936
 著者        Coker C, Poore CA, Li X, Mobley HL
 タイトル      Pathogenesis of Proteus mirabilis urinary tract infection.
 雑誌        Microbes Infect 2:1497-505 (2000)
 DOI:10.1016/S1286-4579(00)01304-6
 PMID:18202436
 著者        Jacobsen SM, Stickler DJ, Mobley HL, Shirtliff ME
 タイトル      Complicated catheter-associated urinary tract infections due to Escherichia coli and Proteus mirabilis.
 雑誌        Clin Microbiol Rev 21:26-59 (2008)
 DOI:10.1128/CMR.00019-07
 PMID:16060714
 著者        Nicolle LE
 タイトル      Catheter-related urinary tract infection.
 雑誌        Drugs Aging 22:627-39 (2005)
 DOI:10.2165/00002512-200522080-00001
 PMID:19926986
 著者        Trautner BW
 タイトル      Management of catheter-associated urinary tract infection.
 雑誌        Curr Opin Infect Dis 23:76-82 (2010)
 DOI:10.1097/QCO.0b013e328334dda8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01067"">H01067</a>",Proteus mirabilis 感染,"Proteus mirabilis is a motile gram-negative bacterium within the Enterobacteriaceae, that inhabits the environment. It causes a number of infections including those of the skin, respiratory tract, wounds, and urinary tract. Pyelonephritis caused by the bacterium primarily affects individuals with indwelling catheters or structural abnormalities of the urinary tract.",,,"Proteus mirabilis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pmr"">pmr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pmib"">pmib</a>]
 Urea-inducible urease [pmr:<a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI3685"">PMI3685</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI3684"">PMI3684</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI3683"">PMI3683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01428"">K01428</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01429"">K01429</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01430"">K01430</a>]
 Amino acid deaminase [pmr:<a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI2834"">PMI2834</a>]
 Hemolysin [pmr:<a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI2057"">PMI2057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11016"">K11016</a>]
 ZapA metalloprotease (IgA-degrading complex) [pmr:<a href=""https://www.genome.jp/dbget-bin/www_bget?pmr_ja:PMI0279"">PMI0279</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01406"">K01406</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011512"">D011512</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21921687"">21921687</a>
 著者        Jacobsen SM, Shirtliff ME
 タイトル      Proteus mirabilis biofilms and catheter-associated urinary tract infections.
 雑誌        Virulence 2:460-5 (2011)
 DOI:<a href=""https://doi.org/10.4161/viru.2.5.17783"">10.4161/viru.2.5.17783</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11099936"">11099936</a>
 著者        Coker C, Poore CA, Li X, Mobley HL
 タイトル      Pathogenesis of Proteus mirabilis urinary tract infection.
 雑誌        Microbes Infect 2:1497-505 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(00)01304-6"">10.1016/S1286-4579(00)01304-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202436"">18202436</a>
 著者        Jacobsen SM, Stickler DJ, Mobley HL, Shirtliff ME
 タイトル      Complicated catheter-associated urinary tract infections due to Escherichia coli and Proteus mirabilis.
 雑誌        Clin Microbiol Rev 21:26-59 (2008)
 DOI:<a href=""https://doi.org/10.1128/CMR.00019-07"">10.1128/CMR.00019-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16060714"">16060714</a>
 著者        Nicolle LE
 タイトル      Catheter-related urinary tract infection.
 雑誌        Drugs Aging 22:627-39 (2005)
 DOI:<a href=""https://doi.org/10.2165/00002512-200522080-00001"">10.2165/00002512-200522080-00001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19926986"">19926986</a>
 著者        Trautner BW
 タイトル      Management of catheter-associated urinary tract infection.
 雑誌        Curr Opin Infect Dis 23:76-82 (2010)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e328334dda8"">10.1097/QCO.0b013e328334dda8</a>"
H01068,Aggregatibacter aphrophilus 感染,,,"Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) is a capnophilic, fermentative, non-motile, gram-negative coccobacillus, that is part of the indigenous microbiota of the human oropharynx. Infections with this bacterium are infrequent. It has mainly been associated with endocarditis, brain abscesses, vertebral osteomyelitis, and bacteremia.",感染症,,,Aggregatibacter aphrophilus [GN:aap],,,,"Resistance to ampicillin, cefuroxime, ceftazidime and cefotaxime has been reported, with clinical failure of treatment with third-generation cephalosporins.",,"PMID:6816135
 著者        Albritton WL
 タイトル      Infections due to Haemophilus species other than H. influenzae.
 雑誌        Annu Rev Microbiol 36:199-216 (1982)
 DOI:10.1146/annurev.mi.36.100182.001215
 PMID:11318807
 著者        Colson P, La Scola B, Champsaur P
 タイトル      Vertebral infections caused by Haemophilus aphrophilus: case report and review.
 雑誌        Clin Microbiol Infect 7:107-13 (2001)
 DOI:10.1046/j.1469-0691.2001.00208.x
 PMID:8170429
 著者        Wilson CM, Reiss-Levy EA, Sturgess AD, Au TC
 タイトル      Haemophilus paraphrophilus vertebral osteomyelitis.
 雑誌        Med J Aust 160:512-4 (1994)
 DOI:10.5694/j.1326-5377.1994.tb138318.x
 PMID:3308306
 著者        Papasian CJ, Reintjes S, Rengachary SS, Neihart RE, Hodges GR
 タイトル      Haemophilus paraphrophilus brain abscess.
 雑誌        Diagn Microbiol Infect Dis 7:205-9 (1987)
 DOI:10.1016/0732-8893(87)90006-X
 PMID:7620027
 著者        Coll-Vinent B, Suris X, Lopez-Soto A, Miro JM, Coca A
 タイトル      Haemophilus paraphrophilus endocarditis: case report and review.
 雑誌        Clin Infect Dis 20:1381-3 (1995)
 DOI:10.1093/clinids/20.5.1381","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01068"">H01068</a>",Aggregatibacter aphrophilus 感染,"Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) is a capnophilic, fermentative, non-motile, gram-negative coccobacillus, that is part of the indigenous microbiota of the human oropharynx. Infections with this bacterium are infrequent. It has mainly been associated with endocarditis, brain abscesses, vertebral osteomyelitis, and bacteremia.",,,"Aggregatibacter aphrophilus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aap"">aap</a>]",,,,"Resistance to ampicillin, cefuroxime, ceftazidime and cefotaxime has been reported, with clinical failure of treatment with third-generation cephalosporins.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6816135"">6816135</a>
 著者        Albritton WL
 タイトル      Infections due to Haemophilus species other than H. influenzae.
 雑誌        Annu Rev Microbiol 36:199-216 (1982)
 DOI:<a href=""https://doi.org/10.1146/annurev.mi.36.100182.001215"">10.1146/annurev.mi.36.100182.001215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11318807"">11318807</a>
 著者        Colson P, La Scola B, Champsaur P
 タイトル      Vertebral infections caused by Haemophilus aphrophilus: case report and review.
 雑誌        Clin Microbiol Infect 7:107-13 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.1469-0691.2001.00208.x"">10.1046/j.1469-0691.2001.00208.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8170429"">8170429</a>
 著者        Wilson CM, Reiss-Levy EA, Sturgess AD, Au TC
 タイトル      Haemophilus paraphrophilus vertebral osteomyelitis.
 雑誌        Med J Aust 160:512-4 (1994)
 DOI:<a href=""https://doi.org/10.5694/j.1326-5377.1994.tb138318.x"">10.5694/j.1326-5377.1994.tb138318.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3308306"">3308306</a>
 著者        Papasian CJ, Reintjes S, Rengachary SS, Neihart RE, Hodges GR
 タイトル      Haemophilus paraphrophilus brain abscess.
 雑誌        Diagn Microbiol Infect Dis 7:205-9 (1987)
 DOI:<a href=""https://doi.org/10.1016/0732-8893(87)90006-X"">10.1016/0732-8893(87)90006-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7620027"">7620027</a>
 著者        Coll-Vinent B, Suris X, Lopez-Soto A, Miro JM, Coca A
 タイトル      Haemophilus paraphrophilus endocarditis: case report and review.
 雑誌        Clin Infect Dis 20:1381-3 (1995)
 DOI:<a href=""https://doi.org/10.1093/clinids/20.5.1381"">10.1093/clinids/20.5.1381</a>"
H01069,Stenotrophomonas maltophilia 感染,,,"Stenotrophomonas maltophilia is a ubiquitous organism found in practically all natural environments with water content. In hospital environments, it is frequently found as a contaminant in many devices, infusion solutions, sterile water and is associated with hospital-acquired infections in patients with compromised immunity. S. maltophilia has been isolated from various clinical settings and the respiratory tract is the most common site of infection.",感染症,,,"Stenotrophomonas maltophilia [GN:sml smz]
 StmPr1 [sml:Smlt0861] [KO:K14645]",,,,Stenotrophomonas maltophilia shows high levels of intrinsic or acquired resistance to different antimicrobial agents.,MeSH: C531821,"PMID:21504403
 著者        Abbott IJ, Slavin MA, Turnidge JD, Thursky KA, Worth LJ
 タイトル      Stenotrophomonas maltophilia: emerging disease patterns and challenges for treatment.
 雑誌        Expert Rev Anti Infect Ther 9:471-88 (2011)
 DOI:10.1586/eri.11.24
 PMID:16196464
 著者        Looney WJ
 タイトル      Role of Stenotrophomonas maltophilia in hospital-acquired infection.
 雑誌        Br J Biomed Sci 62:145-54; quiz 1 p following 154 (2005)
 DOI:10.1080/09674845.2005.11732702
 PMID:20526844
 著者        Nyc O, Matejkova J
 タイトル      Stenotrophomonas maltophilia: Significant contemporary hospital pathogen - review.
 雑誌        Folia Microbiol (Praha) 55:286-94 (2010)
 DOI:10.1007/s12223-010-0043-4
 PMID:17334747
 著者        Nicodemo AC, Paez JI
 タイトル      Antimicrobial therapy for Stenotrophomonas maltophilia infections.
 雑誌        Eur J Clin Microbiol Infect Dis 26:229-37 (2007)
 DOI:10.1007/s10096-007-0279-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01069"">H01069</a>",Stenotrophomonas maltophilia 感染,"Stenotrophomonas maltophilia is a ubiquitous organism found in practically all natural environments with water content. In hospital environments, it is frequently found as a contaminant in many devices, infusion solutions, sterile water and is associated with hospital-acquired infections in patients with compromised immunity. S. maltophilia has been isolated from various clinical settings and the respiratory tract is the most common site of infection.",,,"Stenotrophomonas maltophilia [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sml"">sml</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smz"">smz</a>]
 StmPr1 [sml:<a href=""https://www.genome.jp/dbget-bin/www_bget?sml_ja:Smlt0861"">Smlt0861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14645"">K14645</a>]",,,,Stenotrophomonas maltophilia shows high levels of intrinsic or acquired resistance to different antimicrobial agents.,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C531821"">C531821</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21504403"">21504403</a>
 著者        Abbott IJ, Slavin MA, Turnidge JD, Thursky KA, Worth LJ
 タイトル      Stenotrophomonas maltophilia: emerging disease patterns and challenges for treatment.
 雑誌        Expert Rev Anti Infect Ther 9:471-88 (2011)
 DOI:<a href=""https://doi.org/10.1586/eri.11.24"">10.1586/eri.11.24</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16196464"">16196464</a>
 著者        Looney WJ
 タイトル      Role of Stenotrophomonas maltophilia in hospital-acquired infection.
 雑誌        Br J Biomed Sci 62:145-54; quiz 1 p following 154 (2005)
 DOI:<a href=""https://doi.org/10.1080/09674845.2005.11732702"">10.1080/09674845.2005.11732702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20526844"">20526844</a>
 著者        Nyc O, Matejkova J
 タイトル      Stenotrophomonas maltophilia: Significant contemporary hospital pathogen - review.
 雑誌        Folia Microbiol (Praha) 55:286-94 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12223-010-0043-4"">10.1007/s12223-010-0043-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17334747"">17334747</a>
 著者        Nicodemo AC, Paez JI
 タイトル      Antimicrobial therapy for Stenotrophomonas maltophilia infections.
 雑誌        Eur J Clin Microbiol Infect Dis 26:229-37 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10096-007-0279-3"">10.1007/s10096-007-0279-3</a>"
H01070,Vibrio furnissii 感染,,,"Vibrio furnissii, first described as a gasproducing biovar of V. fluvialis, is associated with human acute gastroenteritis. The pathology of V. furnissii in gastroenteritis is potentially related to hemolysin production. A protein with multifaceted functions in solute binding, in in vitro hemolysis, in antibiotic resistance, and as a virulence factor in bacterial pathogenesis has been identified.",感染症,,,"Vibrio furnissii [GN:vfu]
 Hly-OppA [vfu:vfu_A01533] [KO:K15580]",,,,,MeSH: D014735,"PMID:21450956
 著者        Derber C, Coudron P, Tarr C, Gladney L, Turnsek M, Shankaran S, Wong E
 タイトル      Vibrio furnissii: an unusual cause of bacteremia and skin lesions after ingestion of seafood.
 雑誌        J Clin Microbiol 49:2348-9 (2011)
 DOI:10.1128/JCM.00092-11
 PMID:17873048
 著者        Wu TK, Wang YK, Chen YC, Feng JM, Liu YH, Wang TY
 タイトル      Identification of a Vibrio furnissii oligopeptide permease and characterization of its in vitro hemolytic activity.
 雑誌        J Bacteriol 189:8215-23 (2007)
 DOI:10.1128/JB.01039-07
 PMID:8139467
 著者        Magalhaes V, Castello Filho A, Magalhaes M, Gomes TT
 タイトル      Laboratory evaluation on pathogenic potentialities of Vibrio furnissii.
 雑誌        Mem Inst Oswaldo Cruz 88:593-7 (1993)
 DOI:10.1590/S0074-02761993000400017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01070"">H01070</a>",Vibrio furnissii 感染,"Vibrio furnissii, first described as a gasproducing biovar of V. fluvialis, is associated with human acute gastroenteritis. The pathology of V. furnissii in gastroenteritis is potentially related to hemolysin production. A protein with multifaceted functions in solute binding, in in vitro hemolysis, in antibiotic resistance, and as a virulence factor in bacterial pathogenesis has been identified.",,,"Vibrio furnissii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:vfu"">vfu</a>]
 Hly-OppA [vfu:<a href=""https://www.genome.jp/dbget-bin/www_bget?vfu_ja:vfu_A01533"">vfu_A01533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15580"">K15580</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014735"">D014735</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21450956"">21450956</a>
 著者        Derber C, Coudron P, Tarr C, Gladney L, Turnsek M, Shankaran S, Wong E
 タイトル      Vibrio furnissii: an unusual cause of bacteremia and skin lesions after ingestion of seafood.
 雑誌        J Clin Microbiol 49:2348-9 (2011)
 DOI:<a href=""https://doi.org/10.1128/JCM.00092-11"">10.1128/JCM.00092-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17873048"">17873048</a>
 著者        Wu TK, Wang YK, Chen YC, Feng JM, Liu YH, Wang TY
 タイトル      Identification of a Vibrio furnissii oligopeptide permease and characterization of its in vitro hemolytic activity.
 雑誌        J Bacteriol 189:8215-23 (2007)
 DOI:<a href=""https://doi.org/10.1128/JB.01039-07"">10.1128/JB.01039-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8139467"">8139467</a>
 著者        Magalhaes V, Castello Filho A, Magalhaes M, Gomes TT
 タイトル      Laboratory evaluation on pathogenic potentialities of Vibrio furnissii.
 雑誌        Mem Inst Oswaldo Cruz 88:593-7 (1993)
 DOI:<a href=""https://doi.org/10.1590/S0074-02761993000400017"">10.1590/S0074-02761993000400017</a>"
H01071,アルコール過敏症,,,"Aldehyde dehydrogenases (ALDHs) are important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with the alcohol flush reaction. More than 40% of the East Asians population carries a common ALDH2 mutant allele, which results in a dramatic reduction in the enzymatic activity when compared with the wild-type allele.",先天性代謝異常症,,ALDH2 [HSA:217] [KO:K00128],,,,,,"ICD-11: 6C40.3
 OMIM: 610251","PMID:16792555
 著者        Dickson PA, James MR, Heath AC, Montgomery GW, Martin NG, Whitfield JB, Birley AJ
 タイトル      Effects of variation at the ALDH2 locus on alcohol metabolism, sensitivity, consumption, and dependence in Europeans.
 雑誌        Alcohol Clin Exp Res 30:1093-100 (2006)
 DOI:10.1111/j.1530-0277.2006.00128.x
 PMID:20558439
 著者        Chen CH, Sun L, Mochly-Rosen D
 タイトル      Mitochondrial aldehyde dehydrogenase and cardiac diseases.
 雑誌        Cardiovasc Res 88:51-7 (2010)
 DOI:10.1093/cvr/cvq192","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01071"">H01071</a>",アルコール過敏症,"Aldehyde dehydrogenases (ALDHs) are important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with the alcohol flush reaction. More than 40% of the East Asians population carries a common ALDH2 mutant allele, which results in a dramatic reduction in the enzymatic activity when compared with the wild-type allele.",,"ALDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:217"">217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00128"">K00128</a>]",,,,,,"ICD-11: 6C40.3
 OMIM: <a href=""https://www.omim.org/entry/610251"">610251</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16792555"">16792555</a>
 著者        Dickson PA, James MR, Heath AC, Montgomery GW, Martin NG, Whitfield JB, Birley AJ
 タイトル      Effects of variation at the ALDH2 locus on alcohol metabolism, sensitivity, consumption, and dependence in Europeans.
 雑誌        Alcohol Clin Exp Res 30:1093-100 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1530-0277.2006.00128.x"">10.1111/j.1530-0277.2006.00128.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20558439"">20558439</a>
 著者        Chen CH, Sun L, Mochly-Rosen D
 タイトル      Mitochondrial aldehyde dehydrogenase and cardiac diseases.
 雑誌        Cardiovasc Res 88:51-7 (2010)
 DOI:<a href=""https://doi.org/10.1093/cvr/cvq192"">10.1093/cvr/cvq192</a>"
H01072,Moraxella 感染,,,Moraxella catarrhalis is a gram-negative human mucosal pathogen that is morphologically similar to Neisseria spp. It is found as a common commensal of the nasopharynx and can cause upper respiratory tract infections. The infection presents as otitis media or sinusitis in children and the exacerbation of chronic bronchitis in adults with chronic obstructive pulmonary disease (COPD).,感染症,,,Moraxella catarrhalis [GN:mct],,,,"Moraxella catarrhalis is expected to be resistant to beta-lactam antibiotics including penicillin, ampicillin, amoxicillin, and piperacillin [ATC: J01CE01 J01CA04 J01CA01 J01CA12].",,"PMID:22234107
 著者        Gupta N, Arora S, Kundra S
 タイトル      Moraxella catarrhalis as a respiratory pathogen.
 雑誌        Indian J Pathol Microbiol 54:769-71 (2011)
 DOI:10.4103/0377-4929.91496
 PMID:9152030
 著者        Enright MC, McKenzie H
 タイトル      Moraxella (Branhamella) catarrhalis--clinical and molecular aspects of a rediscovered pathogen.
 雑誌        J Med Microbiol 46:360-71 (1997)
 DOI:10.1099/00222615-46-5-360
 PMID:11781271
 著者        Verduin CM, Hol C, Fleer A, van Dijk H, van Belkum A
 タイトル      Moraxella catarrhalis: from emerging to established pathogen.
 雑誌        Clin Microbiol Rev 15:125-44 (2002)
 DOI:10.1128/CMR.15.1.125-144.2002
 PMID:10865200
 著者        Karalus R, Campagnari A
 タイトル      Moraxella catarrhalis: a review of an important human mucosal pathogen.
 雑誌        Microbes Infect 2:547-59 (2000)
 DOI:10.1016/S1286-4579(00)00314-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01072"">H01072</a>",Moraxella 感染,Moraxella catarrhalis is a gram-negative human mucosal pathogen that is morphologically similar to Neisseria spp. It is found as a common commensal of the nasopharynx and can cause upper respiratory tract infections. The infection presents as otitis media or sinusitis in children and the exacerbation of chronic bronchitis in adults with chronic obstructive pulmonary disease (COPD).,,,"Moraxella catarrhalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mct"">mct</a>]",,,,"Moraxella catarrhalis is expected to be resistant to beta-lactam antibiotics including penicillin, ampicillin, amoxicillin, and piperacillin [ATC: J01CE01 J01CA04 J01CA01 J01CA12].",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22234107"">22234107</a>
 著者        Gupta N, Arora S, Kundra S
 タイトル      Moraxella catarrhalis as a respiratory pathogen.
 雑誌        Indian J Pathol Microbiol 54:769-71 (2011)
 DOI:<a href=""https://doi.org/10.4103/0377-4929.91496"">10.4103/0377-4929.91496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9152030"">9152030</a>
 著者        Enright MC, McKenzie H
 タイトル      Moraxella (Branhamella) catarrhalis--clinical and molecular aspects of a rediscovered pathogen.
 雑誌        J Med Microbiol 46:360-71 (1997)
 DOI:<a href=""https://doi.org/10.1099/00222615-46-5-360"">10.1099/00222615-46-5-360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11781271"">11781271</a>
 著者        Verduin CM, Hol C, Fleer A, van Dijk H, van Belkum A
 タイトル      Moraxella catarrhalis: from emerging to established pathogen.
 雑誌        Clin Microbiol Rev 15:125-44 (2002)
 DOI:<a href=""https://doi.org/10.1128/CMR.15.1.125-144.2002"">10.1128/CMR.15.1.125-144.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10865200"">10865200</a>
 著者        Karalus R, Campagnari A
 タイトル      Moraxella catarrhalis: a review of an important human mucosal pathogen.
 雑誌        Microbes Infect 2:547-59 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(00)00314-2"">10.1016/S1286-4579(00)00314-2</a>"
H01073,Shewanella 感染,,,"Shewanella putrefaciens and Shewanella algae, which are frequently found in non-human sources, are opportunistically pathogenic for humans. Shewanella infection is associated with a wide clinical spectrum including bacteremia/septicemia, skin and soft-tissue infection, biliary tract infection, peritonitis, and empyema, and soft-tissue infection is most frequent. Bacteremia/septicemia can cause death in some cases.",感染症,,,"Shewanella putrefaciens
 Shewanella algae",,,,S. putrefaciens are resistant to cefazolin and cefoxitin.,,"PMID:22325004
 著者        Liu PY, Lin CF, Wu MJ, Kao CC, Shi ZY
 タイトル      Shewanella bloodstream infection.
 雑誌        Hemodial Int 16:578-9 (2012)
 DOI:10.1111/j.1542-4758.2012.00664.x
 PMID:18565779
 著者        Tsai MS, You HL, Tang YF, Liu JW
 タイトル      Shewanella soft tissue infection: case report and literature review.
 雑誌        Int J Infect Dis 12:e119-24 (2008)
 DOI:10.1016/j.ijid.2008.03.020
 PMID:9332516
 著者        Chen YS, Liu YC, Yen MY, Wang JH, Wang JH, Wann SR, Cheng DL
 タイトル      Skin and soft-tissue manifestations of Shewanella putrefaciens infection.
 雑誌        Clin Infect Dis 25:225-9 (1997)
 DOI:10.1086/514537","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01073"">H01073</a>",Shewanella 感染,"Shewanella putrefaciens and Shewanella algae, which are frequently found in non-human sources, are opportunistically pathogenic for humans. Shewanella infection is associated with a wide clinical spectrum including bacteremia/septicemia, skin and soft-tissue infection, biliary tract infection, peritonitis, and empyema, and soft-tissue infection is most frequent. Bacteremia/septicemia can cause death in some cases.",,,"Shewanella putrefaciens
 Shewanella algae",,,,S. putrefaciens are resistant to cefazolin and cefoxitin.,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22325004"">22325004</a>
 著者        Liu PY, Lin CF, Wu MJ, Kao CC, Shi ZY
 タイトル      Shewanella bloodstream infection.
 雑誌        Hemodial Int 16:578-9 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1542-4758.2012.00664.x"">10.1111/j.1542-4758.2012.00664.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18565779"">18565779</a>
 著者        Tsai MS, You HL, Tang YF, Liu JW
 タイトル      Shewanella soft tissue infection: case report and literature review.
 雑誌        Int J Infect Dis 12:e119-24 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2008.03.020"">10.1016/j.ijid.2008.03.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9332516"">9332516</a>
 著者        Chen YS, Liu YC, Yen MY, Wang JH, Wang JH, Wann SR, Cheng DL
 タイトル      Skin and soft-tissue manifestations of Shewanella putrefaciens infection.
 雑誌        Clin Infect Dis 25:225-9 (1997)
 DOI:<a href=""https://doi.org/10.1086/514537"">10.1086/514537</a>"
H01074,Aeromonas 感染,,,"Members of the genus Aeromonas are gram-negative bacteria that inhabit various aquatic environments. It can cause a wide spectrum of disease in humans as well as other animals, with gastroenteritis being the most common type of infection. Wound infections and septicaemia are the second and third common disease caused by Aeromonas after gastroenteritis.",感染症,,,"Aeromonas hydrophila [GN:aha]
 Aeromonas veronii
 Aeromonas media
 Aeromonas caviae [GN:acav]
 Aeromonas schubertii
 Aeromonas jandaei
 Aeromonas trota
 Aeromonas bestiarum
 Aeromonas popoffii",,,,,,"PMID:21163298
 著者        Parker JL, Shaw JG
 タイトル      Aeromonas spp. clinical microbiology and disease.
 雑誌        J Infect 62:109-18 (2011)
 DOI:10.1016/j.jinf.2010.12.003
 PMID:20065325
 著者        Janda JM, Abbott SL
 タイトル      The genus Aeromonas: taxonomy, pathogenicity, and infection.
 雑誌        Clin Microbiol Rev 23:35-73 (2010)
 DOI:10.1128/CMR.00039-09
 PMID:17401708
 著者        von Graevenitz A
 タイトル      The role of Aeromonas in diarrhea: a review.
 雑誌        Infection 35:59-64 (2007)
 DOI:10.1007/s15010-007-6243-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01074"">H01074</a>",Aeromonas 感染,"Members of the genus Aeromonas are gram-negative bacteria that inhabit various aquatic environments. It can cause a wide spectrum of disease in humans as well as other animals, with gastroenteritis being the most common type of infection. Wound infections and septicaemia are the second and third common disease caused by Aeromonas after gastroenteritis.",,,"Aeromonas hydrophila [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aha"">aha</a>]
 Aeromonas veronii
 Aeromonas media
 Aeromonas caviae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:acav"">acav</a>]
 Aeromonas schubertii
 Aeromonas jandaei
 Aeromonas trota
 Aeromonas bestiarum
 Aeromonas popoffii",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21163298"">21163298</a>
 著者        Parker JL, Shaw JG
 タイトル      Aeromonas spp. clinical microbiology and disease.
 雑誌        J Infect 62:109-18 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jinf.2010.12.003"">10.1016/j.jinf.2010.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20065325"">20065325</a>
 著者        Janda JM, Abbott SL
 タイトル      The genus Aeromonas: taxonomy, pathogenicity, and infection.
 雑誌        Clin Microbiol Rev 23:35-73 (2010)
 DOI:<a href=""https://doi.org/10.1128/CMR.00039-09"">10.1128/CMR.00039-09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17401708"">17401708</a>
 著者        von Graevenitz A
 タイトル      The role of Aeromonas in diarrhea: a review.
 雑誌        Infection 35:59-64 (2007)
 DOI:<a href=""https://doi.org/10.1007/s15010-007-6243-4"">10.1007/s15010-007-6243-4</a>"
H01075,"ピータース異常
 下位グループ    ピータース異常・白内障症候群
 Peters plus 症候群
 上位グループ    遺伝性前眼部形成異常 [DS:H01159]",,,"Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.",先天奇形,,B3GALTL [HSA:145173] [KO:K13675],,,,,,"ICD-11: LA11.Y
 ICD-10: Q13.4
 MeSH: C537884
 OMIM: 261540","PMID:21633242
 著者        Girgis N, Chen TC
 タイトル      Genetics of the pediatric glaucomas.
 雑誌        Int Ophthalmol Clin 51:107-17 (2011)
 DOI:10.1097/IIO.0b013e31821e538b
 PMID:21738392
 著者        Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
 タイトル      Chromosome abnormalities and the genetics of congenital corneal opacification.
 雑誌        Mol Vis 17:1624-40 (2011)
 PMID:21448066
 著者        Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
 タイトル      Peters anomaly: review of the literature.
 雑誌        Cornea 30:939-44 (2011)
 DOI:10.1097/ICO.0b013e31820156a9
 PMID:12015278
 著者        Gould DB, John SW
 タイトル      Anterior segment dysgenesis and the developmental glaucomas are complex traits.
 雑誌        Hum Mol Genet 11:1185-93 (2002)
 DOI:10.1093/hmg/11.10.1185
 PMID:27218149
 著者        Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
 タイトル      FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
 雑誌        Nat Commun 7:10953 (2016)
 DOI:10.1038/ncomms10953
 PMID:19796186
 著者        Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N
 タイトル      Novel B3GALTL mutation in Peters-plus Syndrome.
 雑誌        Clin Genet 76:490-2 (2009)
 DOI:10.1111/j.1399-0004.2009.01253.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01075"">H01075</a>","ピータース異常
 下位グループ    ピータース異常・白内障症候群
 Peters plus 症候群
 上位グループ    遺伝性前眼部形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01159"">H01159</a>]","Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.",,"B3GALTL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:145173"">145173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13675"">K13675</a>]",,,,,,"ICD-11: LA11.Y
 ICD-10: Q13.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537884"">C537884</a>
 OMIM: <a href=""https://www.omim.org/entry/261540"">261540</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21633242"">21633242</a>
 著者        Girgis N, Chen TC
 タイトル      Genetics of the pediatric glaucomas.
 雑誌        Int Ophthalmol Clin 51:107-17 (2011)
 DOI:<a href=""https://doi.org/10.1097/IIO.0b013e31821e538b"">10.1097/IIO.0b013e31821e538b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21738392"">21738392</a>
 著者        Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
 タイトル      Chromosome abnormalities and the genetics of congenital corneal opacification.
 雑誌        Mol Vis 17:1624-40 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21448066"">21448066</a>
 著者        Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
 タイトル      Peters anomaly: review of the literature.
 雑誌        Cornea 30:939-44 (2011)
 DOI:<a href=""https://doi.org/10.1097/ICO.0b013e31820156a9"">10.1097/ICO.0b013e31820156a9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12015278"">12015278</a>
 著者        Gould DB, John SW
 タイトル      Anterior segment dysgenesis and the developmental glaucomas are complex traits.
 雑誌        Hum Mol Genet 11:1185-93 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.10.1185"">10.1093/hmg/11.10.1185</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27218149"">27218149</a>
 著者        Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
 タイトル      FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
 雑誌        Nat Commun 7:10953 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms10953"">10.1038/ncomms10953</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19796186"">19796186</a>
 著者        Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N
 タイトル      Novel B3GALTL mutation in Peters-plus Syndrome.
 雑誌        Clin Genet 76:490-2 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2009.01253.x"">10.1111/j.1399-0004.2009.01253.x</a>"
H01076,"アルファメチルアセト酢酸尿症;
 ケトチオラーゼ欠損症",,,"Alpha-methylacetoacetic aciduria/3-Ketothiolase deficiency is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. The patients present with intermittent ketoacidotic episodes and urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine.",,,ACAT1 [HSA:38] [KO:K00626],,,,,,"ICD-11: 5C50.DY
 ICD-10: E72.2
 MeSH: C535434
 OMIM: 203750","PMID:1346617
 著者        Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T
 タイトル      Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
 雑誌        J Clin Invest 89:474-9 (1992)
 DOI:10.1172/JCI115608
 PMID:1715688
 著者        Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T
 タイトル      Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.
 雑誌        Biochem Biophys Res Commun 179:124-9 (1991)
 DOI:10.1016/0006-291X(91)91343-B
 PMID:7728148
 著者        Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T
 タイトル      Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
 雑誌        Hum Mutat 5:34-42 (1995)
 DOI:10.1002/humu.1380050105
 PMID:23664791 (therapy)
 著者        Kayani R, Botros S, Moore P
 タイトル      Beta-ketothiolase deficiency and pregnancy.
 雑誌        Int J Obstet Anesth 22:260-1 (2013)
 DOI:10.1016/j.ijoa.2013.03.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01076"">H01076</a>","アルファメチルアセト酢酸尿症;
 ケトチオラーゼ欠損症","Alpha-methylacetoacetic aciduria/3-Ketothiolase deficiency is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. The patients present with intermittent ketoacidotic episodes and urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine.",,"ACAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:38"">38</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00626"">K00626</a>]",,,,,,"ICD-11: 5C50.DY
 ICD-10: E72.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535434"">C535434</a>
 OMIM: <a href=""https://www.omim.org/entry/203750"">203750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1346617"">1346617</a>
 著者        Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T
 タイトル      Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
 雑誌        J Clin Invest 89:474-9 (1992)
 DOI:<a href=""https://doi.org/10.1172/JCI115608"">10.1172/JCI115608</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1715688"">1715688</a>
 著者        Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T
 タイトル      Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.
 雑誌        Biochem Biophys Res Commun 179:124-9 (1991)
 DOI:<a href=""https://doi.org/10.1016/0006-291X(91)91343-B"">10.1016/0006-291X(91)91343-B</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7728148"">7728148</a>
 著者        Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T
 タイトル      Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
 雑誌        Hum Mutat 5:34-42 (1995)
 DOI:<a href=""https://doi.org/10.1002/humu.1380050105"">10.1002/humu.1380050105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23664791"">23664791</a> (therapy)
 著者        Kayani R, Botros S, Moore P
 タイトル      Beta-ketothiolase deficiency and pregnancy.
 雑誌        Int J Obstet Anesth 22:260-1 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ijoa.2013.03.006"">10.1016/j.ijoa.2013.03.006</a>"
H01077,Bordetella hinzii 感染,,,Bordetella hinzii is a recently added species to the genus Bordetella that is isolated from poultry with respiratory disease. B. hinzii is a potential human pathogen in immunocompromised patients or patients with underlying disease.,感染症,,,Bordetella hinzii [GN:bhz],,,,,MeSH: D001885,"PMID:7814500
 著者        Cookson BT, Vandamme P, Carlson LC, Larson AM, Sheffield JV, Kersters K, Spach DH
 タイトル      Bacteremia caused by a novel Bordetella species, ""B. hinzii"".
 雑誌        J Clin Microbiol 32:2569-71 (1994)
 DOI:10.1128/JCM.32.10.2569-2571.1994
 PMID:8815118
 著者        Funke G, Hess T, von Graevenitz A, Vandamme P
 タイトル      Characteristics of Bordetella hinzii strains isolated from a cystic fibrosis patient over a 3-year period.
 雑誌        J Clin Microbiol 34:966-9 (1996)
 DOI:10.1128/JCM.34.4.966-969.1996
 PMID:7857806
 著者        Vandamme P, Hommez J, Vancanneyt M, Monsieurs M, Hoste B, Cookson B, Wirsing von Konig CH, Kersters K, Blackall PJ
 タイトル      Bordetella hinzii sp. nov., isolated from poultry and humans.
 雑誌        Int J Syst Bacteriol 45:37-45 (1995)
 DOI:10.1099/00207713-45-1-37","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01077"">H01077</a>",Bordetella hinzii 感染,Bordetella hinzii is a recently added species to the genus Bordetella that is isolated from poultry with respiratory disease. B. hinzii is a potential human pathogen in immunocompromised patients or patients with underlying disease.,,,"Bordetella hinzii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bhz"">bhz</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001885"">D001885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7814500"">7814500</a>
 著者        Cookson BT, Vandamme P, Carlson LC, Larson AM, Sheffield JV, Kersters K, Spach DH
 タイトル      Bacteremia caused by a novel Bordetella species, ""B. hinzii"".
 雑誌        J Clin Microbiol 32:2569-71 (1994)
 DOI:<a href=""https://doi.org/10.1128/JCM.32.10.2569-2571.1994"">10.1128/JCM.32.10.2569-2571.1994</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8815118"">8815118</a>
 著者        Funke G, Hess T, von Graevenitz A, Vandamme P
 タイトル      Characteristics of Bordetella hinzii strains isolated from a cystic fibrosis patient over a 3-year period.
 雑誌        J Clin Microbiol 34:966-9 (1996)
 DOI:<a href=""https://doi.org/10.1128/JCM.34.4.966-969.1996"">10.1128/JCM.34.4.966-969.1996</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7857806"">7857806</a>
 著者        Vandamme P, Hommez J, Vancanneyt M, Monsieurs M, Hoste B, Cookson B, Wirsing von Konig CH, Kersters K, Blackall PJ
 タイトル      Bordetella hinzii sp. nov., isolated from poultry and humans.
 雑誌        Int J Syst Bacteriol 45:37-45 (1995)
 DOI:<a href=""https://doi.org/10.1099/00207713-45-1-37"">10.1099/00207713-45-1-37</a>"
H01078,"Fletcher因子欠乏症;
 プレカリクレイン欠乏症",,,"Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time.",血液疾患,,KLKB1 [HSA:3818] [KO:K01324],,,,,,"ICD-11: 3B15
 ICD-10: D68.8
 OMIM: 612423","PMID:21091145
 著者        Girolami A, Scarparo P, Candeo N, Lombardi AM
 タイトル      Congenital prekallikrein deficiency.
 雑誌        Expert Rev Hematol 3:685-95 (2010)
 DOI:10.1586/ehm.10.69
 PMID:6902559
 著者        Ragni MV, Lewis JH, Hasiba U, Spero JA
 タイトル      Prekallikrein (Fletcher factor) deficiency in clinical disease states.
 雑誌        Thromb Res 18:45-54 (1980)
 DOI:10.1016/0049-3848(80)90169-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01078"">H01078</a>","Fletcher因子欠乏症;
 プレカリクレイン欠乏症","Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time.",,"KLKB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3818"">3818</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01324"">K01324</a>]",,,,,,"ICD-11: 3B15
 ICD-10: D68.8
 OMIM: <a href=""https://www.omim.org/entry/612423"">612423</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21091145"">21091145</a>
 著者        Girolami A, Scarparo P, Candeo N, Lombardi AM
 タイトル      Congenital prekallikrein deficiency.
 雑誌        Expert Rev Hematol 3:685-95 (2010)
 DOI:<a href=""https://doi.org/10.1586/ehm.10.69"">10.1586/ehm.10.69</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6902559"">6902559</a>
 著者        Ragni MV, Lewis JH, Hasiba U, Spero JA
 タイトル      Prekallikrein (Fletcher factor) deficiency in clinical disease states.
 雑誌        Thromb Res 18:45-54 (1980)
 DOI:<a href=""https://doi.org/10.1016/0049-3848(80)90169-3"">10.1016/0049-3848(80)90169-3</a>"
H01079,"3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency;
 PHGDH 欠損症",,,"3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and infantile onset of intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF) and plasma. Mutations have been identified in PHGDH, the gene encoding 3-PGDH.",先天性代謝異常症,,PHGDH [HSA:26227] [KO:K00058],,,,,,"ICD-11: 5C50.6
 ICD-10: E72.8
 MeSH: C566618
 OMIM: 601815","PMID:21113737 (description, gene, drug)
 著者        Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ
 タイトル      Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
 雑誌        J Inherit Metab Dis 34:181-4 (2011)
 DOI:10.1007/s10545-010-9249-5
 PMID:19235232 (description, gene, drug)
 著者        Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW
 タイトル      Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
 雑誌        Hum Mutat 30:749-56 (2009)
 DOI:10.1002/humu.20934
 PMID:19963421 (description, gene, drug)
 著者        Tabatabaie L, Klomp LW, Berger R, de Koning TJ
 タイトル      L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
 雑誌        Mol Genet Metab 99:256-62 (2010)
 DOI:10.1016/j.ymgme.2009.10.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01079"">H01079</a>","3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency;
 PHGDH 欠損症","3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and infantile onset of intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF) and plasma. Mutations have been identified in PHGDH, the gene encoding 3-PGDH.",,"PHGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26227"">26227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00058"">K00058</a>]",,,,,,"ICD-11: 5C50.6
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566618"">C566618</a>
 OMIM: <a href=""https://www.omim.org/entry/601815"">601815</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21113737"">21113737</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ
 タイトル      Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
 雑誌        J Inherit Metab Dis 34:181-4 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10545-010-9249-5"">10.1007/s10545-010-9249-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19235232"">19235232</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW
 タイトル      Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
 雑誌        Hum Mutat 30:749-56 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20934"">10.1002/humu.20934</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19963421"">19963421</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tabatabaie L, Klomp LW, Berger R, de Koning TJ
 タイトル      L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
 雑誌        Mol Genet Metab 99:256-62 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.10.012"">10.1016/j.ymgme.2009.10.012</a>"
H01080,Ralstonia pickettii 感染,,,"Ralstonia pickettii is a gram-negative aerobic bacillus that can cause infections, mainly of the respiratory tract, in immunocompromised and cystic fibrosis patients.",感染症,,,Ralstonia pickettii,,,,"Resistance can occur to ciprofloxacin, trimethoprim-sulphamethoxazole, piperacillin-tazobactam, imipenem-cilastatin and ceftazidime.",,"PMID:16441445
 著者        Stelzmueller I, Biebl M, Wiesmayr S, Eller M, Hoeller E, Fille M, Weiss G, Lass-Floerl C, Bonatti H
 タイトル      Ralstonia pickettii-innocent bystander or a potential threat?
 雑誌        Clin Microbiol Infect 12:99-101 (2006)
 DOI:10.1111/j.1469-0691.2005.01309.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01080"">H01080</a>",Ralstonia pickettii 感染,"Ralstonia pickettii is a gram-negative aerobic bacillus that can cause infections, mainly of the respiratory tract, in immunocompromised and cystic fibrosis patients.",,,Ralstonia pickettii,,,,"Resistance can occur to ciprofloxacin, trimethoprim-sulphamethoxazole, piperacillin-tazobactam, imipenem-cilastatin and ceftazidime.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16441445"">16441445</a>
 著者        Stelzmueller I, Biebl M, Wiesmayr S, Eller M, Hoeller E, Fille M, Weiss G, Lass-Floerl C, Bonatti H
 タイトル      Ralstonia pickettii-innocent bystander or a potential threat?
 雑誌        Clin Microbiol Infect 12:99-101 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2005.01309.x"">10.1111/j.1469-0691.2005.01309.x</a>"
H01081,Achromobacter xylosoxidans 角膜炎,,,Achromobacter xylosoxidans is a gram-negative bacterium that belongs to the genus Alicaligenes. This organism can rarely cause keratitis in patients who had worn contact lenses.,感染症,,,Achromobacter xylosoxidans,,,,Achromobacter xylosoxidans is resistant to aminoglycosides.,,"PMID:22323886
 著者        Park JH, Song NH, Koh JW
 タイトル      Achromobacter xylosoxidans Keratitis after Contact Lens Usage.
 雑誌        Korean J Ophthalmol 26:49-53 (2012)
 DOI:10.3341/kjo.2012.26.1.49
 PMID:21993586
 著者        Ahmed AA, Pineda R
 タイトル      Alcaligenes xylosoxidans contact lens-related keratitis--a case report and literature review.
 雑誌        Eye Contact Lens 37:386-9 (2011)
 DOI:10.1097/ICL.0b013e318235893a","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01081"">H01081</a>",Achromobacter xylosoxidans 角膜炎,Achromobacter xylosoxidans is a gram-negative bacterium that belongs to the genus Alicaligenes. This organism can rarely cause keratitis in patients who had worn contact lenses.,,,Achromobacter xylosoxidans,,,,Achromobacter xylosoxidans is resistant to aminoglycosides.,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22323886"">22323886</a>
 著者        Park JH, Song NH, Koh JW
 タイトル      Achromobacter xylosoxidans Keratitis after Contact Lens Usage.
 雑誌        Korean J Ophthalmol 26:49-53 (2012)
 DOI:<a href=""https://doi.org/10.3341/kjo.2012.26.1.49"">10.3341/kjo.2012.26.1.49</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21993586"">21993586</a>
 著者        Ahmed AA, Pineda R
 タイトル      Alcaligenes xylosoxidans contact lens-related keratitis--a case report and literature review.
 雑誌        Eye Contact Lens 37:386-9 (2011)
 DOI:<a href=""https://doi.org/10.1097/ICL.0b013e318235893a"">10.1097/ICL.0b013e318235893a</a>"
H01082,ホスホセリンアミノトランスフェラーゼ欠乏症,,,"Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:H01079]. Mutations in the PSAT1 gene have been identified.",先天性代謝異常症,,PSAT1 [HSA:29968] [KO:K00831],,,,,,"ICD-11: 5C50.6
 MeSH: C567032
 OMIM: 610992","PMID:17436247 (description, gene, drug)
 著者        Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E
 タイトル      Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
 雑誌        Am J Hum Genet 80:931-7 (2007)
 DOI:10.1086/517888
 PMID:19963421 (description, gene, drug)
 著者        Tabatabaie L, Klomp LW, Berger R, de Koning TJ
 タイトル      L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
 雑誌        Mol Genet Metab 99:256-62 (2010)
 DOI:10.1016/j.ymgme.2009.10.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01082"">H01082</a>",ホスホセリンアミノトランスフェラーゼ欠乏症,"Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01079]."">H01079].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Mutations"">Mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PSAT1"">PSAT1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:identified."">identified.</a>",,"PSAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29968"">29968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00831"">K00831</a>]",,,,,,"ICD-11: 5C50.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567032"">C567032</a>
 OMIM: <a href=""https://www.omim.org/entry/610992"">610992</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17436247"">17436247</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E
 タイトル      Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
 雑誌        Am J Hum Genet 80:931-7 (2007)
 DOI:<a href=""https://doi.org/10.1086/517888"">10.1086/517888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19963421"">19963421</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tabatabaie L, Klomp LW, Berger R, de Koning TJ
 タイトル      L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
 雑誌        Mol Genet Metab 99:256-62 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.10.012"">10.1016/j.ymgme.2009.10.012</a>"
H01083,Bordetella bronchiseptica 感染,,,"Bordetella bronchiseptica is a common pathogen among dogs and pigs, but has rarely been implicated in human infections. Human infections caused by B. bronchiseptica occur mostly in immunocompromised patients and often present as pneumonia.",感染症,,,Bordetella bronchiseptica [GN:bbr],,,,,MeSH: D001885,"PMID:2373090
 著者        Meis JF, van Griethuijsen AJ, Muytjens HL
 タイトル      Bordetella bronchiseptica bronchitis in an immunosuppressed patient.
 雑誌        Eur J Clin Microbiol Infect Dis 9:366-7 (1990)
 DOI:10.1007/BF01973748
 PMID:3571462
 著者        Papasian CJ, Downs NJ, Talley RL, Romberger DJ, Hodges GR
 タイトル      Bordetella bronchiseptica bronchitis.
 雑誌        J Clin Microbiol 25:575-7 (1987)
 DOI:10.1128/JCM.25.3.575-577.1987
 PMID:11168091
 著者        Petrocheilou-Paschou V, Georgilis K, Kostis E, Prifti H, Zakopoulos N, Stamatelopoulos S
 タイトル      Bronchitis caused by Bordetella bronchiseptica in an elderly woman.
 雑誌        Clin Microbiol Infect 6:147-8 (2000)
 DOI:10.1046/j.1469-0691.2000.00034-1.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01083"">H01083</a>",Bordetella bronchiseptica 感染,"Bordetella bronchiseptica is a common pathogen among dogs and pigs, but has rarely been implicated in human infections. Human infections caused by B. bronchiseptica occur mostly in immunocompromised patients and often present as pneumonia.",,,"Bordetella bronchiseptica [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbr"">bbr</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001885"">D001885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2373090"">2373090</a>
 著者        Meis JF, van Griethuijsen AJ, Muytjens HL
 タイトル      Bordetella bronchiseptica bronchitis in an immunosuppressed patient.
 雑誌        Eur J Clin Microbiol Infect Dis 9:366-7 (1990)
 DOI:<a href=""https://doi.org/10.1007/BF01973748"">10.1007/BF01973748</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3571462"">3571462</a>
 著者        Papasian CJ, Downs NJ, Talley RL, Romberger DJ, Hodges GR
 タイトル      Bordetella bronchiseptica bronchitis.
 雑誌        J Clin Microbiol 25:575-7 (1987)
 DOI:<a href=""https://doi.org/10.1128/JCM.25.3.575-577.1987"">10.1128/JCM.25.3.575-577.1987</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11168091"">11168091</a>
 著者        Petrocheilou-Paschou V, Georgilis K, Kostis E, Prifti H, Zakopoulos N, Stamatelopoulos S
 タイトル      Bronchitis caused by Bordetella bronchiseptica in an elderly woman.
 雑誌        Clin Microbiol Infect 6:147-8 (2000)
 DOI:<a href=""https://doi.org/10.1046/j.1469-0691.2000.00034-1.x"">10.1046/j.1469-0691.2000.00034-1.x</a>"
H01084,Bordetella holmesii 感染,,,"Bordetella holmesii is a fastidious asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory tract infection, and endocarditis predominantly in patients with anatomical or functional asplenia.",感染症,,,Bordetella holmesii [GN:bho bhm],,,,,MeSH: D001885,"PMID:22098551
 著者        Mooi FR, Bruisten S, Linde I, Reubsaet F, Heuvelman K, van der Lee S, J King A
 タイトル      Characterization of Bordetella holmesii isolates from patients with pertussis-like illness in the Netherlands.
 雑誌        FEMS Immunol Med Microbiol 64:289-91 (2012)
 DOI:10.1111/j.1574-695X.2011.00911.x
 PMID:21944385
 著者        Barrado L, Barrios M, Sanz F, Chaves F
 タイトル      [Bordetella holmesii bacteremia in a child with sickle cell disease].
 雑誌        Enferm Infecc Microbiol Clin 29:779-80 (2011)
 DOI:10.1016/j.eimc.2011.05.003
 PMID:21778268
 著者        Moissenet D, Leverger G, Merens A, Bonacorsi S, Guiso N, Vu-Thien H
 タイトル      Septic arthritis caused by Bordetella holmesii in an adolescent with chronic haemolytic anaemia.
 雑誌        J Med Microbiol 60:1705-7 (2011)
 DOI:10.1099/jmm.0.033829-0
 PMID:20668129
 著者        Panagopoulos MI, Saint Jean M, Brun D, Guiso N, Bekal S, Ovetchkine P, Tapiero B
 タイトル      Bordetella holmesii bacteremia in asplenic children: report of four cases initially misidentified as Acinetobacter lwoffii.
 雑誌        J Clin Microbiol 48:3762-4 (2010)
 DOI:10.1128/JCM.00595-10
 PMID:17174401
 著者        Dorbecker C, Licht C, Korber F, Plum G, Haefs C, Hoppe B, Seifert H
 タイトル      Community-acquired pneumonia due to Bordetella holmesii in a patient with frequently relapsing nephrotic syndrome.
 雑誌        J Infect 54:e203-5 (2007)
 DOI:10.1016/j.jinf.2006.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01084"">H01084</a>",Bordetella holmesii 感染,"Bordetella holmesii is a fastidious asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory tract infection, and endocarditis predominantly in patients with anatomical or functional asplenia.",,,"Bordetella holmesii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bho"">bho</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bhm"">bhm</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001885"">D001885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22098551"">22098551</a>
 著者        Mooi FR, Bruisten S, Linde I, Reubsaet F, Heuvelman K, van der Lee S, J King A
 タイトル      Characterization of Bordetella holmesii isolates from patients with pertussis-like illness in the Netherlands.
 雑誌        FEMS Immunol Med Microbiol 64:289-91 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1574-695X.2011.00911.x"">10.1111/j.1574-695X.2011.00911.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21944385"">21944385</a>
 著者        Barrado L, Barrios M, Sanz F, Chaves F
 タイトル      [Bordetella holmesii bacteremia in a child with sickle cell disease].
 雑誌        Enferm Infecc Microbiol Clin 29:779-80 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.eimc.2011.05.003"">10.1016/j.eimc.2011.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21778268"">21778268</a>
 著者        Moissenet D, Leverger G, Merens A, Bonacorsi S, Guiso N, Vu-Thien H
 タイトル      Septic arthritis caused by Bordetella holmesii in an adolescent with chronic haemolytic anaemia.
 雑誌        J Med Microbiol 60:1705-7 (2011)
 DOI:<a href=""https://doi.org/10.1099/jmm.0.033829-0"">10.1099/jmm.0.033829-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20668129"">20668129</a>
 著者        Panagopoulos MI, Saint Jean M, Brun D, Guiso N, Bekal S, Ovetchkine P, Tapiero B
 タイトル      Bordetella holmesii bacteremia in asplenic children: report of four cases initially misidentified as Acinetobacter lwoffii.
 雑誌        J Clin Microbiol 48:3762-4 (2010)
 DOI:<a href=""https://doi.org/10.1128/JCM.00595-10"">10.1128/JCM.00595-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17174401"">17174401</a>
 著者        Dorbecker C, Licht C, Korber F, Plum G, Haefs C, Hoppe B, Seifert H
 タイトル      Community-acquired pneumonia due to Bordetella holmesii in a patient with frequently relapsing nephrotic syndrome.
 雑誌        J Infect 54:e203-5 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jinf.2006.11.004"">10.1016/j.jinf.2006.11.004</a>"
H01085,裂頭条虫症,,,Diphyllobothriasis is a parasitosis caused by the tapeworms of the genus Diphyllobothrium. It has been known as intestinal parasites of humans for a long time and has shown a reemergence in some countries such as Russia and Japan. The worm is acquired by eating raw or poorly cooked fish including salted or marinated fillets. Many infections with this parasite are reported to be mild or asymptomatic.,感染症,,,"Diphyllobothrium latum
 Diphyllobothrium nihonkaiens
 Diphyllobothrium dendriticum
 Diphyllobothrium ditremum
 Diphyllobothrium pacificum",,,"シアノコバラミン [DR:D00166]
 ヒドロキソコバラミン酢酸塩 [DR:D02707]
 コバマミド [DR:D00042]",,"ICD-11: 1F71
 ICD-10: B70.0
 MeSH: D004169","PMID:19136438
 著者        Scholz T, Garcia HH, Kuchta R, Wicht B
 タイトル      Update on the human broad tapeworm (genus diphyllobothrium), including clinical relevance.
 雑誌        Clin Microbiol Rev 22:146-60, Table of Contents (2009)
 DOI:10.1128/CMR.00033-08
 PMID:12041607
 著者        Dick TA, Nelson PA, Choudhury A
 タイトル      Diphyllobothriasis: update on human cases, foci, patterns and sources of human infections and future considerations.
 雑誌        Southeast Asian J Trop Med Public Health 32 Suppl 2:59-76 (2001)
 PMID:15208471
 著者        Dupouy-Camet J, Peduzzi R
 タイトル      Current situation of human diphyllobothriasis in Europe.
 雑誌        Euro Surveill 9:31-5 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01085"">H01085</a>",裂頭条虫症,Diphyllobothriasis is a parasitosis caused by the tapeworms of the genus Diphyllobothrium. It has been known as intestinal parasites of humans for a long time and has shown a reemergence in some countries such as Russia and Japan. The worm is acquired by eating raw or poorly cooked fish including salted or marinated fillets. Many infections with this parasite are reported to be mild or asymptomatic.,,,"Diphyllobothrium latum
 Diphyllobothrium nihonkaiens
 Diphyllobothrium dendriticum
 Diphyllobothrium ditremum
 Diphyllobothrium pacificum",,,"シアノコバラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00166"">D00166</a>]
 ヒドロキソコバラミン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02707"">D02707</a>]
 コバマミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00042"">D00042</a>]",,"ICD-11: 1F71
 ICD-10: B70.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004169"">D004169</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19136438"">19136438</a>
 著者        Scholz T, Garcia HH, Kuchta R, Wicht B
 タイトル      Update on the human broad tapeworm (genus diphyllobothrium), including clinical relevance.
 雑誌        Clin Microbiol Rev 22:146-60, Table of Contents (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00033-08"">10.1128/CMR.00033-08</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12041607"">12041607</a>
 著者        Dick TA, Nelson PA, Choudhury A
 タイトル      Diphyllobothriasis: update on human cases, foci, patterns and sources of human infections and future considerations.
 雑誌        Southeast Asian J Trop Med Public Health 32 Suppl 2:59-76 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15208471"">15208471</a>
 著者        Dupouy-Camet J, Peduzzi R
 タイトル      Current situation of human diphyllobothriasis in Europe.
 雑誌        Euro Surveill 9:31-5 (2004)"
H01086,"リンパ管フィラリア
 上位グループ    フィラリア症 [DS:H02028]",,,"Lymphatic filariasis is a mosquito-borne parasitic nematode infection in tropical and subtropical areas of Asia, Africa, the Western Pacific, and some parts of the Americas. Disease pathogenesis is linked to host inflammation invoked by the death of the adult parasite, manifesting as recurrent debilitating fevers, hydrocoeles, lymphangitis and lymphadenitis, and elephantiasis.",感染症,,,"Wuchereria bancrofti
 Brugia malayi [GN:bmy]
 Brugia timori",,,,"Vectors: Mosquitos including Anopheles, Aedes, Culex, Mansonia, and Ochlerotatus","ICD-11: 1F66.3
 ICD-10: B74.0 B74.1
 MeSH: D004605","PMID:20739055
 著者        Taylor MJ, Hoerauf A, Bockarie M
 タイトル      Lymphatic filariasis and onchocerciasis.
 雑誌        Lancet 376:1175-85 (2010)
 DOI:10.1016/S0140-6736(10)60586-7
 PMID:21722251
 著者        Hoerauf A, Pfarr K, Mand S, Debrah AY, Specht S
 タイトル      Filariasis in Africa--treatment challenges and prospects.
 雑誌        Clin Microbiol Infect 17:977-85 (2011)
 DOI:10.1111/j.1469-0691.2011.03586.x
 PMID:20847694
 著者        Bockarie MJ, Deb RM
 タイトル      Elimination of lymphatic filariasis: do we have the drugs to complete the job?
 雑誌        Curr Opin Infect Dis 23:617-20 (2010)
 DOI:10.1097/QCO.0b013e32833fdee5
 PMID:18798707
 著者        Bockarie MJ, Pedersen EM, White GB, Michael E
 タイトル      Role of vector control in the global program to eliminate lymphatic filariasis.
 雑誌        Annu Rev Entomol 54:469-87 (2009)
 DOI:10.1146/annurev.ento.54.110807.090626","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01086"">H01086</a>","リンパ管フィラリア
 上位グループ    フィラリア症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02028"">H02028</a>]","Lymphatic filariasis is a mosquito-borne parasitic nematode infection in tropical and subtropical areas of Asia, Africa, the Western Pacific, and some parts of the Americas. Disease pathogenesis is linked to host inflammation invoked by the death of the adult parasite, manifesting as recurrent debilitating fevers, hydrocoeles, lymphangitis and lymphadenitis, and elephantiasis.",,,"Wuchereria bancrofti
 Brugia malayi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmy"">bmy</a>]
 Brugia timori",,,,"Vectors: Mosquitos including Anopheles, Aedes, Culex, Mansonia, and Ochlerotatus","ICD-11: 1F66.3
 ICD-10: B74.0 B74.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004605"">D004605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20739055"">20739055</a>
 著者        Taylor MJ, Hoerauf A, Bockarie M
 タイトル      Lymphatic filariasis and onchocerciasis.
 雑誌        Lancet 376:1175-85 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)60586-7"">10.1016/S0140-6736(10)60586-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21722251"">21722251</a>
 著者        Hoerauf A, Pfarr K, Mand S, Debrah AY, Specht S
 タイトル      Filariasis in Africa--treatment challenges and prospects.
 雑誌        Clin Microbiol Infect 17:977-85 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2011.03586.x"">10.1111/j.1469-0691.2011.03586.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20847694"">20847694</a>
 著者        Bockarie MJ, Deb RM
 タイトル      Elimination of lymphatic filariasis: do we have the drugs to complete the job?
 雑誌        Curr Opin Infect Dis 23:617-20 (2010)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32833fdee5"">10.1097/QCO.0b013e32833fdee5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18798707"">18798707</a>
 著者        Bockarie MJ, Pedersen EM, White GB, Michael E
 タイトル      Role of vector control in the global program to eliminate lymphatic filariasis.
 雑誌        Annu Rev Entomol 54:469-87 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.ento.54.110807.090626"">10.1146/annurev.ento.54.110807.090626</a>"
H01087,バランチジウム症,,,"Balantidiasis is a zoonotic disease caused by protozoan Balantidium coli, which is acquired by humans via the fecal-oral route from the natural reservoir, pigs. Humans may remain asymptomatic or may develop dysentery due to the ulcerations in the colon. Balantidiasis is mostly restricted to tropical/subtropical regions where people live in close proximity to their livestock.",感染症,,,Balantidium coli,,,,,"ICD-11: 1A30
 ICD-10: A07.0
 MeSH: D001447","PMID:18854484
 著者        Schuster FL, Ramirez-Avila L
 タイトル      Current world status of Balantidium coli.
 雑誌        Clin Microbiol Rev 21:626-38 (2008)
 DOI:10.1128/CMR.00021-08
 PMID:15567581
 著者        Schuster FL, Visvesvara GS
 タイトル      Amebae and ciliated protozoa as causal agents of waterborne zoonotic disease.
 雑誌        Vet Parasitol 126:91-120 (2004)
 DOI:10.1016/j.vetpar.2004.09.019
 PMID:17402277
 著者        Karanis P, Kourenti C, Smith H
 タイトル      Waterborne transmission of protozoan parasites: a worldwide review of outbreaks and lessons learnt.
 雑誌        J Water Health 5:1-38 (2007)
 DOI:10.2166/wh.2006.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01087"">H01087</a>",バランチジウム症,"Balantidiasis is a zoonotic disease caused by protozoan Balantidium coli, which is acquired by humans via the fecal-oral route from the natural reservoir, pigs. Humans may remain asymptomatic or may develop dysentery due to the ulcerations in the colon. Balantidiasis is mostly restricted to tropical/subtropical regions where people live in close proximity to their livestock.",,,Balantidium coli,,,,,"ICD-11: 1A30
 ICD-10: A07.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001447"">D001447</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18854484"">18854484</a>
 著者        Schuster FL, Ramirez-Avila L
 タイトル      Current world status of Balantidium coli.
 雑誌        Clin Microbiol Rev 21:626-38 (2008)
 DOI:<a href=""https://doi.org/10.1128/CMR.00021-08"">10.1128/CMR.00021-08</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15567581"">15567581</a>
 著者        Schuster FL, Visvesvara GS
 タイトル      Amebae and ciliated protozoa as causal agents of waterborne zoonotic disease.
 雑誌        Vet Parasitol 126:91-120 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.vetpar.2004.09.019"">10.1016/j.vetpar.2004.09.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17402277"">17402277</a>
 著者        Karanis P, Kourenti C, Smith H
 タイトル      Waterborne transmission of protozoan parasites: a worldwide review of outbreaks and lessons learnt.
 雑誌        J Water Health 5:1-38 (2007)
 DOI:<a href=""https://doi.org/10.2166/wh.2006.002"">10.2166/wh.2006.002</a>"
H01088,色素性傍静脈網脈絡膜萎縮,,,"Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the distribution of the retinal veins. PPCA is bilaterally symmetric, although unilateral cases have been reported. Most cases are sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. There may be an autosomal dominant modes of inheritance caused by a mutation in the CRB1 gene or an X-linked inheritance mode.",神経系疾患,,CRB1 [HSA:23418] [KO:K16681],,,,,,"ICD-11: 9B7Y
 MeSH: C566801
 OMIM: 172870","PMID:21829406
 著者        Hernandez-Da Mota SE, Chacon-Lara A
 タイトル      Bilateral pigmented paravenous chorioretinal atrophy: a case report.
 雑誌        Case Report Ophthalmol 2:228-31 (2011)
 DOI:10.1159/000330552
 PMID:15623792
 著者        McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G
 タイトル      Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
 雑誌        Invest Ophthalmol Vis Sci 46:322-8 (2005)
 DOI:10.1167/iovs.04-0734
 PMID:11116690
 著者        Murray AT, Kirkby GR
 タイトル      Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
 雑誌        Eye (Lond) 14 Pt 5:711-6 (2000)
 DOI:10.1038/eye.2000.189","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01088"">H01088</a>",色素性傍静脈網脈絡膜萎縮,"Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the distribution of the retinal veins. PPCA is bilaterally symmetric, although unilateral cases have been reported. Most cases are sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. There may be an autosomal dominant modes of inheritance caused by a mutation in the CRB1 gene or an X-linked inheritance mode.",,"CRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23418"">23418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16681"">K16681</a>]",,,,,,"ICD-11: 9B7Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566801"">C566801</a>
 OMIM: <a href=""https://www.omim.org/entry/172870"">172870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21829406"">21829406</a>
 著者        Hernandez-Da Mota SE, Chacon-Lara A
 タイトル      Bilateral pigmented paravenous chorioretinal atrophy: a case report.
 雑誌        Case Report Ophthalmol 2:228-31 (2011)
 DOI:<a href=""https://doi.org/10.1159/000330552"">10.1159/000330552</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15623792"">15623792</a>
 著者        McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G
 タイトル      Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
 雑誌        Invest Ophthalmol Vis Sci 46:322-8 (2005)
 DOI:<a href=""https://doi.org/10.1167/iovs.04-0734"">10.1167/iovs.04-0734</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11116690"">11116690</a>
 著者        Murray AT, Kirkby GR
 タイトル      Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
 雑誌        Eye (Lond) 14 Pt 5:711-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/eye.2000.189"">10.1038/eye.2000.189</a>"
H01089,二核アメーバ症,,,Dientamoeba fragilis is a trichomonad protozoan that belongs to the Parabasalia group. It is found worldwide in the gastrointestinal tract of humans and implicated as a cause of diarrhea.,感染症,,,Dientamoeba fragilis,,,,,MeSH: D004030,"PMID:22154849
 著者        Banik GR, Birch D, Stark D, Ellis JT
 タイトル      A microscopic description and ultrastructural characterisation of Dientamoeba fragilis: An emerging cause of human enteric disease.
 雑誌        Int J Parasitol 42:139-53 (2012)
 DOI:10.1016/j.ijpara.2011.10.010
 PMID:16380293
 著者        Stark DJ, Beebe N, Marriott D, Ellis JT, Harkness J
 タイトル      Dientamoebiasis: clinical importance and recent advances.
 雑誌        Trends Parasitol 22:92-6 (2006)
 DOI:10.1016/j.pt.2005.12.001
 PMID:21637013
 著者        Barratt JL, Harkness J, Marriott D, Ellis JT, Stark D
 タイトル      A review of Dientamoeba fragilis carriage in humans: several reasons why this organism should be considered in the diagnosis of gastrointestinal illness.
 雑誌        Gut Microbes 2:3-12 (2011)
 DOI:10.4161/gmic.2.1.14755
 PMID:15258093
 著者        Johnson EH, Windsor JJ, Clark CG
 タイトル      Emerging from obscurity: biological, clinical, and diagnostic aspects of Dientamoeba fragilis.
 雑誌        Clin Microbiol Rev 17:553-70, table of contents (2004)
 DOI:10.1128/CMR.17.3.553-570.2004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01089"">H01089</a>",二核アメーバ症,Dientamoeba fragilis is a trichomonad protozoan that belongs to the Parabasalia group. It is found worldwide in the gastrointestinal tract of humans and implicated as a cause of diarrhea.,,,Dientamoeba fragilis,,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004030"">D004030</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22154849"">22154849</a>
 著者        Banik GR, Birch D, Stark D, Ellis JT
 タイトル      A microscopic description and ultrastructural characterisation of Dientamoeba fragilis: An emerging cause of human enteric disease.
 雑誌        Int J Parasitol 42:139-53 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ijpara.2011.10.010"">10.1016/j.ijpara.2011.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16380293"">16380293</a>
 著者        Stark DJ, Beebe N, Marriott D, Ellis JT, Harkness J
 タイトル      Dientamoebiasis: clinical importance and recent advances.
 雑誌        Trends Parasitol 22:92-6 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.pt.2005.12.001"">10.1016/j.pt.2005.12.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21637013"">21637013</a>
 著者        Barratt JL, Harkness J, Marriott D, Ellis JT, Stark D
 タイトル      A review of Dientamoeba fragilis carriage in humans: several reasons why this organism should be considered in the diagnosis of gastrointestinal illness.
 雑誌        Gut Microbes 2:3-12 (2011)
 DOI:<a href=""https://doi.org/10.4161/gmic.2.1.14755"">10.4161/gmic.2.1.14755</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15258093"">15258093</a>
 著者        Johnson EH, Windsor JJ, Clark CG
 タイトル      Emerging from obscurity: biological, clinical, and diagnostic aspects of Dientamoeba fragilis.
 雑誌        Clin Microbiol Rev 17:553-70, table of contents (2004)
 DOI:<a href=""https://doi.org/10.1128/CMR.17.3.553-570.2004"">10.1128/CMR.17.3.553-570.2004</a>"
H01090,回虫症,,,"Ascariasis is a commonly documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections tend to be asymptomatic.",感染症,,,Ascaris lumbricoides,,,ピランテルパモ酸塩 [DR:D00486],,"ICD-11: 1F62
 ICD-10: B77
 MeSH: D001196","PMID:20934531 (description, env_factor)
 著者        Dold C, Holland CV
 タイトル      Ascaris and ascariasis.
 雑誌        Microbes Infect 13:632-7 (2011)
 DOI:10.1016/j.micinf.2010.09.012
 PMID:8863040 (description, drug)
 著者        Khuroo MS
 タイトル      Ascariasis.
 雑誌        Gastroenterol Clin North Am 25:553-77 (1996)
 DOI:10.1016/S0889-8553(05)70263-6
 PMID:6377443
 著者        Arfaa F
 タイトル      Selective primary health care: strategies for control of disease in the developing world. XII. Ascariasis and trichuriasis.
 雑誌        Rev Infect Dis 6:364-73 (1984)
 DOI:10.1093/clinids/6.3.364","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01090"">H01090</a>",回虫症,"Ascariasis is a commonly documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections tend to be asymptomatic.",,,Ascaris lumbricoides,,,"ピランテルパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00486"">D00486</a>]",,"ICD-11: 1F62
 ICD-10: B77
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001196"">D001196</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20934531"">20934531</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Dold C, Holland CV
 タイトル      Ascaris and ascariasis.
 雑誌        Microbes Infect 13:632-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2010.09.012"">10.1016/j.micinf.2010.09.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8863040"">8863040</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Khuroo MS
 タイトル      Ascariasis.
 雑誌        Gastroenterol Clin North Am 25:553-77 (1996)
 DOI:<a href=""https://doi.org/10.1016/S0889-8553(05)70263-6"">10.1016/S0889-8553(05)70263-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6377443"">6377443</a>
 著者        Arfaa F
 タイトル      Selective primary health care: strategies for control of disease in the developing world. XII. Ascariasis and trichuriasis.
 雑誌        Rev Infect Dis 6:364-73 (1984)
 DOI:<a href=""https://doi.org/10.1093/clinids/6.3.364"">10.1093/clinids/6.3.364</a>"
H01091,蟯虫症,,,Enterobiasis is one of the most widespread parasitic nematode infections caused by Enterobius vermicularis that commonly referred to as pinworm. This infection is usually associated with pruritis in the perianal region.,感染症,,,Enterobius vermicularis,,,ピランテルパモ酸塩 [DR:D00486],,"ICD-11: 1F65
 ICD-10: B80
 MeSH: D017229","PMID:15023017
 著者        Kucik CJ, Martin GL, Sortor BV
 タイトル      Common intestinal parasites.
 雑誌        Am Fam Physician 69:1161-8 (2004)
 PMID:15301168
 著者        Heard S
 タイトル      Pruritus ani.
 雑誌        Aust Fam Physician 33:511-3 (2004)
 PMID:11336585 (drug)
 著者        St Georgiev V
 タイトル      Chemotherapy of enterobiasis (oxyuriasis).
 雑誌        Expert Opin Pharmacother 2:267-75 (2001)
 DOI:10.1517/14656566.2.2.267
 PMID:14618981
 著者        Blake J
 タイトル      An action plan to prevent and combat threadworm infection.
 雑誌        Nurs Times 99:18-9 (2003)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01091"">H01091</a>",蟯虫症,Enterobiasis is one of the most widespread parasitic nematode infections caused by Enterobius vermicularis that commonly referred to as pinworm. This infection is usually associated with pruritis in the perianal region.,,,Enterobius vermicularis,,,"ピランテルパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00486"">D00486</a>]",,"ICD-11: 1F65
 ICD-10: B80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017229"">D017229</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15023017"">15023017</a>
 著者        Kucik CJ, Martin GL, Sortor BV
 タイトル      Common intestinal parasites.
 雑誌        Am Fam Physician 69:1161-8 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15301168"">15301168</a>
 著者        Heard S
 タイトル      Pruritus ani.
 雑誌        Aust Fam Physician 33:511-3 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11336585"">11336585</a> (drug)
 著者        St Georgiev V
 タイトル      Chemotherapy of enterobiasis (oxyuriasis).
 雑誌        Expert Opin Pharmacother 2:267-75 (2001)
 DOI:<a href=""https://doi.org/10.1517/14656566.2.2.267"">10.1517/14656566.2.2.267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14618981"">14618981</a>
 著者        Blake J
 タイトル      An action plan to prevent and combat threadworm infection.
 雑誌        Nurs Times 99:18-9 (2003)"
H01092,"鉤虫症
 下位グループ    十二指腸虫症
 アメリカ鉤虫症
 皮膚幼虫移行症",,,"Human hookworm disease is a chronic intestinal nematode infection most commonly caused by Ancylostoma duodenale and Necator americanus, which are transmitted via skin contact with fecally contaminated soil. The major clinical features are anemia and malnutrition. Humans may also be incidentally infected by the zoonotic hookworms, the most common being A. braziliense and A. caninum, which can cause cutaneous larva migrans.",感染症,,,"Ancylostoma duodenale
 Necator americanus [GN:nai]
 Ancylostoma braziliense
 Ancylostoma caninum",,,ピランテルパモ酸塩 [DR:D00486],,"ICD-11: 1F68
 ICD-10: B76
 MeSH: D006725","PMID:15353961
 著者        Bungiro R, Cappello M
 タイトル      Hookworm infection: new developments and prospects for control.
 雑誌        Curr Opin Infect Dis 17:421-6 (2004)
 DOI:10.1097/00001432-200410000-00006
 PMID:15771680
 著者        Quinnell RJ, Bethony J, Pritchard DI
 タイトル      The immunoepidemiology of human hookworm infection.
 雑誌        Parasite Immunol 26:443-54 (2004)
 DOI:10.1111/j.0141-9838.2004.00727.x
 PMID:20189454
 著者        Bowman DD, Montgomery SP, Zajac AM, Eberhard ML, Kazacos KR
 タイトル      Hookworms of dogs and cats as agents of cutaneous larva migrans.
 雑誌        Trends Parasitol 26:162-7 (2010)
 DOI:10.1016/j.pt.2010.01.005
 著者        Barrett ADT, Stanberry LR (ed).
 タイトル      Vaccines for Biodefense and Emerging and Neglected Diseases
 雑誌        Elsevier (2009)
 著者        Goldman L, Schafer AI (ed).
 タイトル      Goldman's Cecil Medicine (24th edition)
 雑誌        Elsevier (2012)
 DOI:10.1016/C2009-0-42832-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01092"">H01092</a>","鉤虫症
 下位グループ    十二指腸虫症
 アメリカ鉤虫症
 皮膚幼虫移行症","Human hookworm disease is a chronic intestinal nematode infection most commonly caused by Ancylostoma duodenale and Necator americanus, which are transmitted via skin contact with fecally contaminated soil. The major clinical features are anemia and malnutrition. Humans may also be incidentally infected by the zoonotic hookworms, the most common being A. braziliense and A. caninum, which can cause cutaneous larva migrans.",,,"Ancylostoma duodenale
 Necator americanus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nai"">nai</a>]
 Ancylostoma braziliense
 Ancylostoma caninum",,,"ピランテルパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00486"">D00486</a>]",,"ICD-11: 1F68
 ICD-10: B76
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006725"">D006725</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15353961"">15353961</a>
 著者        Bungiro R, Cappello M
 タイトル      Hookworm infection: new developments and prospects for control.
 雑誌        Curr Opin Infect Dis 17:421-6 (2004)
 DOI:<a href=""https://doi.org/10.1097/00001432-200410000-00006"">10.1097/00001432-200410000-00006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15771680"">15771680</a>
 著者        Quinnell RJ, Bethony J, Pritchard DI
 タイトル      The immunoepidemiology of human hookworm infection.
 雑誌        Parasite Immunol 26:443-54 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0141-9838.2004.00727.x"">10.1111/j.0141-9838.2004.00727.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20189454"">20189454</a>
 著者        Bowman DD, Montgomery SP, Zajac AM, Eberhard ML, Kazacos KR
 タイトル      Hookworms of dogs and cats as agents of cutaneous larva migrans.
 雑誌        Trends Parasitol 26:162-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.pt.2010.01.005"">10.1016/j.pt.2010.01.005</a>
 著者        Barrett ADT, Stanberry LR (ed).
 タイトル      Vaccines for Biodefense and Emerging and Neglected Diseases
 雑誌        Elsevier (2009)
 著者        Goldman L, Schafer AI (ed).
 タイトル      Goldman's Cecil Medicine (24th edition)
 雑誌        Elsevier (2012)
 DOI:<a href=""https://doi.org/10.1016/C2009-0-42832-0"">10.1016/C2009-0-42832-0</a>"
H01093,"肺吸虫症;
 肺吸虫感染症
 上位グループ    食物媒介吸虫類感染症 [DS:H01617]",,,Paragonimiasis (also known as lung fluke infection) is a food-borne parasitic disease caused by infection with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater crustaceans (second intermediate host) or wild boar meat (paratenic host). Paragonimiasis is generically insidious in its onset and mildly chronic in its course. The first report of an adult Paragonimus fluke obtained from humans dates back to 1879.,感染症,,,"Paragonimus westermani
 Paragonimus kellicotti
 Paragonimus miyazakii
 Paragonimus skrjabini
 Paragonimus heterotremus
 Paragonimus hueitungensis
 Paragonimus uterobilateralis
 Paragonimus africanus
 Paragonimus mexicanus",,,プラジカンテル [DR:D00471],"First intermediate host: freshwater snails
 Second intermediate host: crustacean species","ICD-11: 1F85
 ICD-10: B66.4
 MeSH: D010237","PMID:19623916 (description, env_factor, drug)
 著者        Aka NA, Adoubryn K, Rondelaud D, Dreyfuss G
 タイトル      Human paragonimiasis in Africa.
 雑誌        Ann Afr Med 7:153-62 (2008)
 DOI:10.4103/1596-3519.55660
 PMID:19597007 (description, env_factor, marker)
 著者        Procop GW
 タイトル      North American paragonimiasis (Caused by Paragonimus kellicotti) in the context of global paragonimiasis.
 雑誌        Clin Microbiol Rev 22:415-46 (2009)
 DOI:10.1128/CMR.00005-08
 PMID:12590662 (marker)
 著者        Iwagami M, Monroy C, Rosas MA, Pinto MR, Guevara AG, Vieira JC, Agatsuma Y, Agatsuma T
 タイトル      A molecular phylogeographic study based on DNA sequences from individual metacercariae of Paragonimus mexicanus from Guatemala and Ecuador.
 雑誌        J Helminthol 77:33-8 (2003)
 DOI:10.1079/JOH2002147
 PMID:25743009
 著者        Nagayasu E, Yoshida A, Hombu A, Horii Y, Maruyama H
 タイトル      Paragonimiasis in Japan: a twelve-year retrospective case review (2001-2012).
 雑誌        Intern Med 54:179-86 (2015)
 DOI:10.2169/internalmedicine.54.1733
 PMID:18514575
 著者        Liu Q, Wei F, Liu W, Yang S, Zhang X
 タイトル      Paragonimiasis: an important food-borne zoonosis in China.
 雑誌        Trends Parasitol 24:318-23 (2008)
 DOI:10.1016/j.pt.2008.03.014
 PMID:1822923 (drug)
 著者        Xu ZB
 タイトル      Studies on clinical manifestations, diagnosis and control of paragonimiasis in China.
 雑誌        Southeast Asian J Trop Med Public Health 22 Suppl:345-8 (1991)
 PMID:19597009
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:10.1128/CMR.00012-09","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01093"">H01093</a>","肺吸虫症;
 肺吸虫感染症
 上位グループ    食物媒介吸虫類感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01617"">H01617</a>]",Paragonimiasis (also known as lung fluke infection) is a food-borne parasitic disease caused by infection with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater crustaceans (second intermediate host) or wild boar meat (paratenic host). Paragonimiasis is generically insidious in its onset and mildly chronic in its course. The first report of an adult Paragonimus fluke obtained from humans dates back to 1879.,,,"Paragonimus westermani
 Paragonimus kellicotti
 Paragonimus miyazakii
 Paragonimus skrjabini
 Paragonimus heterotremus
 Paragonimus hueitungensis
 Paragonimus uterobilateralis
 Paragonimus africanus
 Paragonimus mexicanus",,,"プラジカンテル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00471"">D00471</a>]","First intermediate host: freshwater snails
 Second intermediate host: crustacean species","ICD-11: 1F85
 ICD-10: B66.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010237"">D010237</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19623916"">19623916</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Aka NA, Adoubryn K, Rondelaud D, Dreyfuss G
 タイトル      Human paragonimiasis in Africa.
 雑誌        Ann Afr Med 7:153-62 (2008)
 DOI:<a href=""https://doi.org/10.4103/1596-3519.55660"">10.4103/1596-3519.55660</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597007"">19597007</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Procop GW
 タイトル      North American paragonimiasis (Caused by Paragonimus kellicotti) in the context of global paragonimiasis.
 雑誌        Clin Microbiol Rev 22:415-46 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00005-08"">10.1128/CMR.00005-08</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12590662"">12590662</a> (marker)
 著者        Iwagami M, Monroy C, Rosas MA, Pinto MR, Guevara AG, Vieira JC, Agatsuma Y, Agatsuma T
 タイトル      A molecular phylogeographic study based on DNA sequences from individual metacercariae of Paragonimus mexicanus from Guatemala and Ecuador.
 雑誌        J Helminthol 77:33-8 (2003)
 DOI:<a href=""https://doi.org/10.1079/JOH2002147"">10.1079/JOH2002147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25743009"">25743009</a>
 著者        Nagayasu E, Yoshida A, Hombu A, Horii Y, Maruyama H
 タイトル      Paragonimiasis in Japan: a twelve-year retrospective case review (2001-2012).
 雑誌        Intern Med 54:179-86 (2015)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.54.1733"">10.2169/internalmedicine.54.1733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18514575"">18514575</a>
 著者        Liu Q, Wei F, Liu W, Yang S, Zhang X
 タイトル      Paragonimiasis: an important food-borne zoonosis in China.
 雑誌        Trends Parasitol 24:318-23 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.pt.2008.03.014"">10.1016/j.pt.2008.03.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1822923"">1822923</a> (drug)
 著者        Xu ZB
 タイトル      Studies on clinical manifestations, diagnosis and control of paragonimiasis in China.
 雑誌        Southeast Asian J Trop Med Public Health 22 Suppl:345-8 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597009"">19597009</a>
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00012-09"">10.1128/CMR.00012-09</a>"
H01094,好酸球ペルオキシダーゼ欠損,,,Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. Eosinophils are a hallmark of allergic diseases and helminth infection.,,,EPX [HSA:8288] [KO:K10788],,,,,,"MeSH: C564893
 OMIM: 261500","PMID:7809065
 著者        Romano M, Patriarca P, Melo C, Baralle FE, Dri P
 タイトル      Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.
 雑誌        Proc Natl Acad Sci U S A 91:12496-500 (1994)
 DOI:10.1073/pnas.91.26.12496
 PMID:16926417
 著者        Specht S, Saeftel M, Arndt M, Endl E, Dubben B, Lee NA, Lee JJ, Hoerauf A
 タイトル      Lack of eosinophil peroxidase or major basic protein impairs defense against murine filarial infection.
 雑誌        Infect Immun 74:5236-43 (2006)
 DOI:10.1128/IAI.00329-06
 PMID:15100311
 著者        Forbes E, Murase T, Yang M, Matthaei KI, Lee JJ, Lee NA, Foster PS, Hogan SP
 タイトル      Immunopathogenesis of experimental ulcerative colitis is mediated by eosinophil peroxidase.
 雑誌        J Immunol 172:5664-75 (2004)
 DOI:10.4049/jimmunol.172.9.5664","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01094"">H01094</a>",好酸球ペルオキシダーゼ欠損,Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. Eosinophils are a hallmark of allergic diseases and helminth infection.,,"EPX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8288"">8288</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10788"">K10788</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564893"">C564893</a>
 OMIM: <a href=""https://www.omim.org/entry/261500"">261500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7809065"">7809065</a>
 著者        Romano M, Patriarca P, Melo C, Baralle FE, Dri P
 タイトル      Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.
 雑誌        Proc Natl Acad Sci U S A 91:12496-500 (1994)
 DOI:<a href=""https://doi.org/10.1073/pnas.91.26.12496"">10.1073/pnas.91.26.12496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16926417"">16926417</a>
 著者        Specht S, Saeftel M, Arndt M, Endl E, Dubben B, Lee NA, Lee JJ, Hoerauf A
 タイトル      Lack of eosinophil peroxidase or major basic protein impairs defense against murine filarial infection.
 雑誌        Infect Immun 74:5236-43 (2006)
 DOI:<a href=""https://doi.org/10.1128/IAI.00329-06"">10.1128/IAI.00329-06</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15100311"">15100311</a>
 著者        Forbes E, Murase T, Yang M, Matthaei KI, Lee JJ, Lee NA, Foster PS, Hogan SP
 タイトル      Immunopathogenesis of experimental ulcerative colitis is mediated by eosinophil peroxidase.
 雑誌        J Immunol 172:5664-75 (2004)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.172.9.5664"">10.4049/jimmunol.172.9.5664</a>"
H01095,"合指症
 下位グループ    合多指 (趾) 症 [DS:H00459]",,,Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.,先天奇形,,"(SDTY2/5) HOXD13 [HSA:3239] [KO:K09298]
 (SDTY3) GJA1 [HSA:2697] [KO:K07372]
 (SDTY4) LMBR1 [HSA:64327] [KO:K25217]
 (SDTY9) BHLHA9 [HSA:727857] [KO:K24145]",,,,,SDTY2 is also known as Synpolydactyly.,"ICD-11: LB79
 ICD-10: Q70
 MeSH: D013576
 OMIM: 185900 186000 186100 186200 186300 609432","PMID:22333904
 著者        Malik S
 タイトル      Syndactyly: phenotypes, genetics and current classification.
 雑誌        Eur J Hum Genet 20:817-24 (2012)
 DOI:10.1038/ejhg.2012.14
 PMID:15039974
 著者        Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH
 タイトル      A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
 雑誌        Am J Med Genet A 126A:61-7 (2004)
 DOI:10.1002/ajmg.a.20555
 PMID:8817328 (HOXD13, SDTY2)
 著者        Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M
 タイトル      Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
 雑誌        Hum Mol Genet 5:945-52 (1996)
 DOI:10.1093/hmg/5.7.945
 PMID:16222680 (HOXD13, SDTY5)
 著者        Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
 タイトル      A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
 雑誌        Am J Med Genet A 138:328-39 (2005)
 DOI:10.1002/ajmg.a.30971
 PMID:14729836 (GJA1)
 著者        Richardson R, Donnai D, Meire F, Dixon MJ
 タイトル      Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
 雑誌        J Med Genet 41:60-7 (2004)
 DOI:10.1136/jmg.2003.012005
 PMID:18417549 (LMBR1)
 著者        Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X
 タイトル      Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
 雑誌        J Med Genet 45:589-95 (2008)
 DOI:10.1136/jmg.2008.057646
 PMID:25466284 (BHLHA9)
 著者        Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH
 タイトル      Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
 雑誌        Am J Hum Genet 95:649-59 (2014)
 DOI:10.1016/j.ajhg.2014.10.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01095"">H01095</a>","合指症
 下位グループ    合多指 (趾) 症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00459"">H00459</a>]",Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.,,"(SDTY2/5) HOXD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3239"">3239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (SDTY3) GJA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2697"">2697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07372"">K07372</a>]
 (SDTY4) LMBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64327"">64327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25217"">K25217</a>]
 (SDTY9) BHLHA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:727857"">727857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24145"">K24145</a>]",,,,,SDTY2 is also known as Synpolydactyly.,"ICD-11: LB79
 ICD-10: Q70
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013576"">D013576</a>
 OMIM: <a href=""https://www.omim.org/entry/185900"">185900</a> <a href=""https://www.omim.org/entry/186000"">186000</a> <a href=""https://www.omim.org/entry/186100"">186100</a> <a href=""https://www.omim.org/entry/186200"">186200</a> <a href=""https://www.omim.org/entry/186300"">186300</a> <a href=""https://www.omim.org/entry/609432"">609432</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22333904"">22333904</a>
 著者        Malik S
 タイトル      Syndactyly: phenotypes, genetics and current classification.
 雑誌        Eur J Hum Genet 20:817-24 (2012)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.14"">10.1038/ejhg.2012.14</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15039974"">15039974</a>
 著者        Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH
 タイトル      A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
 雑誌        Am J Med Genet A 126A:61-7 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20555"">10.1002/ajmg.a.20555</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8817328"">8817328</a> (HOXD13, <a href=""https://pubmed.ncbi.nlm.nih.gov/SDTY2)"">SDTY2)</a>
 著者        Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M
 タイトル      Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
 雑誌        Hum Mol Genet 5:945-52 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.7.945"">10.1093/hmg/5.7.945</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16222680"">16222680</a> (HOXD13, <a href=""https://pubmed.ncbi.nlm.nih.gov/SDTY5)"">SDTY5)</a>
 著者        Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
 タイトル      A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
 雑誌        Am J Med Genet A 138:328-39 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30971"">10.1002/ajmg.a.30971</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14729836"">14729836</a> (GJA1)
 著者        Richardson R, Donnai D, Meire F, Dixon MJ
 タイトル      Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
 雑誌        J Med Genet 41:60-7 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2003.012005"">10.1136/jmg.2003.012005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18417549"">18417549</a> (LMBR1)
 著者        Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X
 タイトル      Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
 雑誌        J Med Genet 45:589-95 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.057646"">10.1136/jmg.2008.057646</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25466284"">25466284</a> (BHLHA9)
 著者        Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH
 タイトル      Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
 雑誌        Am J Hum Genet 95:649-59 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.012"">10.1016/j.ajhg.2014.10.012</a>"
H01096,"ピルビン酸キナーゼ異常症
 下位グループ    赤血球ピルビン酸キナーゼ異常症
 ピルビン酸キナーゼ活性亢進",,,"Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP.",先天性代謝異常症,,PKLR [HSA:5313] [KO:K12406],,,,,,"ICD-11: 5C53.00
 ICD-10: D55.2
 OMIM: 266200 102900","PMID:17550841
 著者        Zanella A, Bianchi P, Fermo E
 タイトル      Pyruvate kinase deficiency.
 雑誌        Haematologica 92:721-3 (2007)
 DOI:10.3324/haematol.11469
 PMID:15982340
 著者        Zanella A, Fermo E, Bianchi P, Valentini G
 タイトル      Red cell pyruvate kinase deficiency: molecular and clinical aspects.
 雑誌        Br J Haematol 130:11-25 (2005)
 DOI:10.1111/j.1365-2141.2005.05527.x
 PMID:9090535
 著者        Beutler E, Westwood B, van Zwieten R, Roos D
 タイトル      G--&gt;T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.
 雑誌        Hum Mutat 9:282-5 (1997)
 DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01096"">H01096</a>","ピルビン酸キナーゼ異常症
 下位グループ    赤血球ピルビン酸キナーゼ異常症
 ピルビン酸キナーゼ活性亢進","Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP.",,"PKLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5313"">5313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12406"">K12406</a>]",,,,,,"ICD-11: 5C53.00
 ICD-10: D55.2
 OMIM: <a href=""https://www.omim.org/entry/266200"">266200</a> <a href=""https://www.omim.org/entry/102900"">102900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17550841"">17550841</a>
 著者        Zanella A, Bianchi P, Fermo E
 タイトル      Pyruvate kinase deficiency.
 雑誌        Haematologica 92:721-3 (2007)
 DOI:<a href=""https://doi.org/10.3324/haematol.11469"">10.3324/haematol.11469</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15982340"">15982340</a>
 著者        Zanella A, Fermo E, Bianchi P, Valentini G
 タイトル      Red cell pyruvate kinase deficiency: molecular and clinical aspects.
 雑誌        Br J Haematol 130:11-25 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2005.05527.x"">10.1111/j.1365-2141.2005.05527.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9090535"">9090535</a>
 著者        Beutler E, Westwood B, van Zwieten R, Roos D
 タイトル      G--&gt;T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.
 雑誌        Hum Mutat 9:282-5 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1997)9:"">10.1002/(SICI)1098-1004(1997)9:</a><a href=""https://doi.org/3<282:"">3<282:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU13>3.0.CO;2-Z"">AID-HUMU13>3.0.CO;2-Z</a>"
H01097,痙攣性四肢脳性麻痺,,,"Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors, such as mutations in GAD1, KANK1, and ADD3.",神経系疾患,,"(CPSQ1) GAD1 [HSA:2571] [KO:K01580]
 (CPSQ2) KANK1 [HSA:23189] [KO:K22808]
 (CPSQ3) ADD3 [HSA:120] [KO:K18622]",,,,,,"ICD-11: 8D20.10
 ICD-10: G80.9
 MeSH: D002547
 OMIM: 603513 612900 617008","PMID:15571623
 著者        Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF
 タイトル      Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
 雑誌        BMC Neurol 4:20 (2004)
 DOI:10.1186/1471-2377-4-20
 PMID:16301218
 著者        Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D
 タイトル      Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
 雑誌        Hum Mol Genet 14:3911-20 (2005)
 DOI:10.1093/hmg/ddi415
 PMID:23836506
 著者        Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H
 タイトル      Mutations in gamma adducin are associated with inherited cerebral palsy.
 雑誌        Ann Neurol 74:805-14 (2013)
 DOI:10.1002/ana.23971","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01097"">H01097</a>",痙攣性四肢脳性麻痺,"Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors, such as mutations in GAD1, KANK1, and ADD3.",,"(CPSQ1) GAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2571"">2571</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01580"">K01580</a>]
 (CPSQ2) KANK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23189"">23189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22808"">K22808</a>]
 (CPSQ3) ADD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120"">120</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18622"">K18622</a>]",,,,,,"ICD-11: 8D20.10
 ICD-10: G80.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002547"">D002547</a>
 OMIM: <a href=""https://www.omim.org/entry/603513"">603513</a> <a href=""https://www.omim.org/entry/612900"">612900</a> <a href=""https://www.omim.org/entry/617008"">617008</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15571623"">15571623</a>
 著者        Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF
 タイトル      Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
 雑誌        BMC Neurol 4:20 (2004)
 DOI:<a href=""https://doi.org/10.1186/1471-2377-4-20"">10.1186/1471-2377-4-20</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16301218"">16301218</a>
 著者        Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D
 タイトル      Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
 雑誌        Hum Mol Genet 14:3911-20 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi415"">10.1093/hmg/ddi415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23836506"">23836506</a>
 著者        Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H
 タイトル      Mutations in gamma adducin are associated with inherited cerebral palsy.
 雑誌        Ann Neurol 74:805-14 (2013)
 DOI:<a href=""https://doi.org/10.1002/ana.23971"">10.1002/ana.23971</a>"
H01098,舌虫症,,,"Pentastomiasis is an unusual parasitic zoonosis caused by the larval stages of pentastomes (tongue worms), generally limited to the tropics and subtropical areas. Its definitive hosts are reptiles whilst humans serve as rare intermediate hosts. Infection is usually asymptomatic.",感染症,,,"Armillifer armillatus
 Armillifer grandis
 Armillifer moniliformis
 Armillifer agkistrodontis
 Porocephalus crotali
 Linguatula serrata",,,,,"ICD-11: 1G0Z
 ICD-10: B88.8","PMID:22191176
 著者        Pantchev N, Tappe D
 タイトル      Pentastomiasis and other parasitic zoonoses from reptiles and amphibians.
 雑誌        Berl Munch Tierarztl Wochenschr 124:528-35 (2011)
 DOI:10.2376/0005-9366-124-528
 PMID:18576869
 著者        Yao MH, Wu F, Tang LF
 タイトル      Human pentastomiasis in China: case report and literature review.
 雑誌        J Parasitol 94:1295-8 (2008)
 DOI:10.1645/GE-1597.1
 PMID:19238218
 著者        Tappe D, Buttner DW
 タイトル      Diagnosis of human visceral pentastomiasis.
 雑誌        PLoS Negl Trop Dis 3:e320 (2009)
 DOI:10.1371/journal.pntd.0000320","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01098"">H01098</a>",舌虫症,"Pentastomiasis is an unusual parasitic zoonosis caused by the larval stages of pentastomes (tongue worms), generally limited to the tropics and subtropical areas. Its definitive hosts are reptiles whilst humans serve as rare intermediate hosts. Infection is usually asymptomatic.",,,"Armillifer armillatus
 Armillifer grandis
 Armillifer moniliformis
 Armillifer agkistrodontis
 Porocephalus crotali
 Linguatula serrata",,,,,"ICD-11: 1G0Z
 ICD-10: B88.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22191176"">22191176</a>
 著者        Pantchev N, Tappe D
 タイトル      Pentastomiasis and other parasitic zoonoses from reptiles and amphibians.
 雑誌        Berl Munch Tierarztl Wochenschr 124:528-35 (2011)
 DOI:<a href=""https://doi.org/10.2376/0005-9366-124-528"">10.2376/0005-9366-124-528</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18576869"">18576869</a>
 著者        Yao MH, Wu F, Tang LF
 タイトル      Human pentastomiasis in China: case report and literature review.
 雑誌        J Parasitol 94:1295-8 (2008)
 DOI:<a href=""https://doi.org/10.1645/GE-1597.1"">10.1645/GE-1597.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19238218"">19238218</a>
 著者        Tappe D, Buttner DW
 タイトル      Diagnosis of human visceral pentastomiasis.
 雑誌        PLoS Negl Trop Dis 3:e320 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0000320"">10.1371/journal.pntd.0000320</a>"
H01099,旋毛虫症,,,"Trichinellosis or trichinosis is a foodborne disease caused by the parasitic nematode Trichinella and is widely distributed in the temperate, tropical, and arctic regions. Humans become infected after eating larvae present in raw or inadequately cooked meat.",感染症,,,Trichinella spiralis [GN:tsp],,,,,"ICD-11: 1F6E
 ICD-10: B75
 MeSH: D014235","PMID:26243167
 著者        Shimoni Z, Froom P
 タイトル      Uncertainties in diagnosis, treatment and prevention of trichinellosis.
 雑誌        Expert Rev Anti Infect Ther 13:1279-88 (2015)
 DOI:10.1586/14787210.2015.1075394
 PMID:22421602
 著者        Bruschi F
 タイトル      Trichinellosis in developing countries: is it neglected?
 雑誌        J Infect Dev Ctries 6:216-22 (2012)
 DOI:10.3855/jidc.2478
 PMID:17689195
 著者        Pozio E
 タイトル      World distribution of Trichinella spp. infections in animals and humans.
 雑誌        Vet Parasitol 149:3-21 (2007)
 DOI:10.1016/j.vetpar.2007.07.002
 PMID:17432237
 著者        Dupouy-Camet J
 タイトル      New challenges in trichinellosis control.
 雑誌        Wiad Parazytol 52:155-6 (2006)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01099"">H01099</a>",旋毛虫症,"Trichinellosis or trichinosis is a foodborne disease caused by the parasitic nematode Trichinella and is widely distributed in the temperate, tropical, and arctic regions. Humans become infected after eating larvae present in raw or inadequately cooked meat.",,,"Trichinella spiralis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tsp"">tsp</a>]",,,,,"ICD-11: 1F6E
 ICD-10: B75
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014235"">D014235</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26243167"">26243167</a>
 著者        Shimoni Z, Froom P
 タイトル      Uncertainties in diagnosis, treatment and prevention of trichinellosis.
 雑誌        Expert Rev Anti Infect Ther 13:1279-88 (2015)
 DOI:<a href=""https://doi.org/10.1586/14787210.2015.1075394"">10.1586/14787210.2015.1075394</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22421602"">22421602</a>
 著者        Bruschi F
 タイトル      Trichinellosis in developing countries: is it neglected?
 雑誌        J Infect Dev Ctries 6:216-22 (2012)
 DOI:<a href=""https://doi.org/10.3855/jidc.2478"">10.3855/jidc.2478</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17689195"">17689195</a>
 著者        Pozio E
 タイトル      World distribution of Trichinella spp. infections in animals and humans.
 雑誌        Vet Parasitol 149:3-21 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.vetpar.2007.07.002"">10.1016/j.vetpar.2007.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17432237"">17432237</a>
 著者        Dupouy-Camet J
 タイトル      New challenges in trichinellosis control.
 雑誌        Wiad Parazytol 52:155-6 (2006)"
H01100,糞線虫症,,,"Strongyloidiasis is an intestinal parasite infection caused by soil-transmitted helminths of the genus Strongyloides. The disease occurs worldwide, but especially in tropical and subtropical regions. Most patients are asymptomatic, but the ability of this nematode to replicate in the human host leads to persistent infections and can result in chronic disease.",感染症,,,"Strongyloides stercoralis
 Strongyloides fuelleborni",,,イベルメクチン [DR:D00804],,"ICD-11: 1F6B
 ICD-10: B78
 MeSH: D013322","PMID:19328508 (description, env_factor, drug)
 著者        Olsen A, van Lieshout L, Marti H, Polderman T, Polman K, Steinmann P, Stothard R, Thybo S, Verweij JJ, Magnussen P
 タイトル      Strongyloidiasis--the most neglected of the neglected tropical diseases?
 雑誌        Trans R Soc Trop Med Hyg 103:967-72 (2009)
 DOI:10.1016/j.trstmh.2009.02.013
 PMID:17940124
 著者        Segarra-Newnham M
 タイトル      Manifestations, diagnosis, and treatment of Strongyloides stercoralis infection.
 雑誌        Ann Pharmacother 41:1992-2001 (2007)
 DOI:10.1345/aph.1K302
 PMID:11528578
 著者        Siddiqui AA, Berk SL
 タイトル      Diagnosis of Strongyloides stercoralis infection.
 雑誌        Clin Infect Dis 33:1040-7 (2001)
 DOI:10.1086/322707
 PMID:15500376
 著者        Satoh M, Kokaze A
 タイトル      Treatment strategies in controlling strongyloidiasis.
 雑誌        Expert Opin Pharmacother 5:2293-301 (2004)
 DOI:10.1517/14656566.5.11.2293","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01100"">H01100</a>",糞線虫症,"Strongyloidiasis is an intestinal parasite infection caused by soil-transmitted helminths of the genus Strongyloides. The disease occurs worldwide, but especially in tropical and subtropical regions. Most patients are asymptomatic, but the ability of this nematode to replicate in the human host leads to persistent infections and can result in chronic disease.",,,"Strongyloides stercoralis
 Strongyloides fuelleborni",,,"イベルメクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00804"">D00804</a>]",,"ICD-11: 1F6B
 ICD-10: B78
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013322"">D013322</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19328508"">19328508</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Olsen A, van Lieshout L, Marti H, Polderman T, Polman K, Steinmann P, Stothard R, Thybo S, Verweij JJ, Magnussen P
 タイトル      Strongyloidiasis--the most neglected of the neglected tropical diseases?
 雑誌        Trans R Soc Trop Med Hyg 103:967-72 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.trstmh.2009.02.013"">10.1016/j.trstmh.2009.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17940124"">17940124</a>
 著者        Segarra-Newnham M
 タイトル      Manifestations, diagnosis, and treatment of Strongyloides stercoralis infection.
 雑誌        Ann Pharmacother 41:1992-2001 (2007)
 DOI:<a href=""https://doi.org/10.1345/aph.1K302"">10.1345/aph.1K302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11528578"">11528578</a>
 著者        Siddiqui AA, Berk SL
 タイトル      Diagnosis of Strongyloides stercoralis infection.
 雑誌        Clin Infect Dis 33:1040-7 (2001)
 DOI:<a href=""https://doi.org/10.1086/322707"">10.1086/322707</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15500376"">15500376</a>
 著者        Satoh M, Kokaze A
 タイトル      Treatment strategies in controlling strongyloidiasis.
 雑誌        Expert Opin Pharmacother 5:2293-301 (2004)
 DOI:<a href=""https://doi.org/10.1517/14656566.5.11.2293"">10.1517/14656566.5.11.2293</a>"
H01101,複合性リパーゼ欠損症,,,"Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in lipase maturation factor 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase.",,,LMF1 [HSA:64788] [KO:K23555],,,,,,"ICD-11: 5C80
 ICD-10: E78.9
 MeSH: C535904
 OMIM: 246650","PMID:17994020
 著者        Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH
 タイトル      Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
 雑誌        Nat Genet 39:1483-7 (2007)
 DOI:10.1038/ng.2007.24
 PMID:22063272
 著者        Peterfy M
 タイトル      Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.
 雑誌        Biochim Biophys Acta 1821:790-4 (2012)
 DOI:10.1016/j.bbalip.2011.10.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01101"">H01101</a>",複合性リパーゼ欠損症,"Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in lipase maturation factor 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase.",,"LMF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64788"">64788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23555"">K23555</a>]",,,,,,"ICD-11: 5C80
 ICD-10: E78.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535904"">C535904</a>
 OMIM: <a href=""https://www.omim.org/entry/246650"">246650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994020"">17994020</a>
 著者        Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH
 タイトル      Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
 雑誌        Nat Genet 39:1483-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.24"">10.1038/ng.2007.24</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22063272"">22063272</a>
 著者        Peterfy M
 タイトル      Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.
 雑誌        Biochim Biophys Acta 1821:790-4 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbalip.2011.10.006"">10.1016/j.bbalip.2011.10.006</a>"
H01102,"下垂体腺腫
 下位グループ    多内分泌腺腫瘍 1 型 (MEN1)
 MEN1 様症候群 (MEN4)
 カーニー複合 (CNC) [DS:H01820]
 家族性孤発性下垂体腺腫 (FIPA)
 上位グループ    クッシング症候群 [DS:H01431]",,,"Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial disturbances due to mass effect. The tumor can be clinically nonfunctioning or hormone secreting. Among the latter, prolactin (PRL) and growth hormone (GH)-secreting adenomas are the most common. The majority of pituitary adenomas arise sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4).",内分泌代謝疾患,"nt06234  cAMP signaling
 nt06310  CRH-ACTH-cortisol signaling","(MEN1) MEN1 [HSA:4221] [KO:K14970]
 (MEN4) CDKN1B [HSA:1027] [KO:K06624]
 (CNC) PRKAR1A [HSA:5573] [KO:K04739]
 (PITA1) AIP [HSA:9049] [KO:K17767]
 (PITA2) GPR101 [HSA:83550] [KO:K08423]
 (PITA3) GNAS [HSA:2778] [KO:K04632]
 (PITA4) USP8 [HSA:9101] [KO:K11839]
 (PITA5) CDH23 [HSA:64072] [KO:K06813]
 RASD1 [HSA:51655] [KO:K07843]",,,,"ブロモクリプチンメシル酸塩 [DR:D00780]
 カベルゴリン [DR:D00987]
 ランレオチド酢酸塩 [DR:D04666]",,"ICD-11: 2F37.0
 ICD-10: D44.8
 MeSH: D010911
 OMIM: 600634 610755 160980 102200 300943 617686 219090 617540","PMID:19522822
 著者        Tichomirowa MA, Daly AF, Beckers A
 タイトル      Familial pituitary adenomas.
 雑誌        J Intern Med 266:5-18 (2009)
 DOI:10.1111/j.1365-2796.2009.02109.x
 PMID:27588171
 著者        Xiong Q, Ge W
 タイトル      Gene mutations in Cushing's disease.
 雑誌        Biomed Rep 5:277-282 (2016)
 DOI:10.3892/br.2016.729
 PMID:27742789
 著者        Caimari F, Korbonits M
 タイトル      Novel Genetic Causes of Pituitary Adenomas.
 雑誌        Clin Cancer Res 22:5030-5042 (2016)
 DOI:10.1158/1078-0432.CCR-16-0452
 PMID:9103196 (MEN1)
 著者        Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ
 タイトル      Positional cloning of the gene for multiple endocrine neoplasia-type 1.
 雑誌        Science 276:404-7 (1997)
 DOI:10.1126/science.276.5311.404
 PMID:17030811 (CDKN1B)
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:10.1073/pnas.0603877103
 PMID:10973256 (PRKAR1A)
 著者        Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA
 タイトル      Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
 雑誌        Nat Genet 26:89-92 (2000)
 DOI:10.1038/79238
 PMID:16728643 (AIP)
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:10.1126/science.1126100
 PMID:25470569 (GPR101)
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:10.1056/NEJMoa1408028
 PMID:7737262 (GNAS)
 著者        Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE
 タイトル      G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
 雑誌        Eur J Clin Invest 25:128-31 (1995)
 DOI:10.1111/j.1365-2362.1995.tb01537.x
 PMID:25485838 (USP8)
 著者        Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
 タイトル      Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
 雑誌        Nat Genet 47:31-8 (2015)
 DOI:10.1038/ng.3166
 PMID:28413019 (CDH23)
 著者        Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, Shou X, Ma Z, Peng H, Jian X, He W, Ye Z, Li Z, Wang Y, Ye H, Zhang Z, Shen M, Tang F, Chen H, Shi Z, Chen C, Chen Z, Shen Y, Wang Y, Lu S, Zhang J, Li Y, Li S, Mao Y, Zhou L, Yan H, Shi Y, Huang C, Zhao Y
 タイトル      Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
 雑誌        Am J Hum Genet 100:817-823 (2017)
 DOI:10.1016/j.ajhg.2017.03.011
 PMID:28487882 (RASD1)
 著者        Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
 タイトル      Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001602 (2017)
 DOI:10.1101/mcs.a001602","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a>","下垂体腺腫
 下位グループ    多内分泌腺腫瘍 1 型 (MEN1)
 MEN1 様症候群 (MEN4)
 カーニー複合 (CNC) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01820"">H01820</a>]
 家族性孤発性下垂体腺腫 (FIPA)
 上位グループ    クッシング症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a>]","Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial disturbances due to mass effect. The tumor can be clinically nonfunctioning or hormone secreting. Among the latter, prolactin (PRL) and growth hormone (GH)-secreting adenomas are the most common. The majority of pituitary adenomas arise sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4).","<a href=""https://www.kegg.jp/network/nt06234"">nt06234</a>  cAMP signaling
 <a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","(MEN1) MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 (MEN4) CDKN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1027"">1027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06624"">K06624</a>]
 (CNC) PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]
 (PITA1) AIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9049"">9049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17767"">K17767</a>]
 (PITA2) GPR101 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83550"">83550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08423"">K08423</a>]
 (PITA3) GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]
 (PITA4) USP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9101"">9101</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11839"">K11839</a>]
 (PITA5) CDH23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64072"">64072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06813"">K06813</a>]
 RASD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51655"">51655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07843"">K07843</a>]",,,,"ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 カベルゴリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00987"">D00987</a>]
 ランレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04666"">D04666</a>]",,"ICD-11: 2F37.0
 ICD-10: D44.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010911"">D010911</a>
 OMIM: <a href=""https://www.omim.org/entry/600634"">600634</a> <a href=""https://www.omim.org/entry/610755"">610755</a> <a href=""https://www.omim.org/entry/160980"">160980</a> <a href=""https://www.omim.org/entry/102200"">102200</a> <a href=""https://www.omim.org/entry/300943"">300943</a> <a href=""https://www.omim.org/entry/617686"">617686</a> <a href=""https://www.omim.org/entry/219090"">219090</a> <a href=""https://www.omim.org/entry/617540"">617540</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19522822"">19522822</a>
 著者        Tichomirowa MA, Daly AF, Beckers A
 タイトル      Familial pituitary adenomas.
 雑誌        J Intern Med 266:5-18 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2796.2009.02109.x"">10.1111/j.1365-2796.2009.02109.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27588171"">27588171</a>
 著者        Xiong Q, Ge W
 タイトル      Gene mutations in Cushing's disease.
 雑誌        Biomed Rep 5:277-282 (2016)
 DOI:<a href=""https://doi.org/10.3892/br.2016.729"">10.3892/br.2016.729</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27742789"">27742789</a>
 著者        Caimari F, Korbonits M
 タイトル      Novel Genetic Causes of Pituitary Adenomas.
 雑誌        Clin Cancer Res 22:5030-5042 (2016)
 DOI:<a href=""https://doi.org/10.1158/1078-0432.CCR-16-0452"">10.1158/1078-0432.CCR-16-0452</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9103196"">9103196</a> (MEN1)
 著者        Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ
 タイトル      Positional cloning of the gene for multiple endocrine neoplasia-type 1.
 雑誌        Science 276:404-7 (1997)
 DOI:<a href=""https://doi.org/10.1126/science.276.5311.404"">10.1126/science.276.5311.404</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17030811"">17030811</a> (CDKN1B)
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603877103"">10.1073/pnas.0603877103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973256"">10973256</a> (PRKAR1A)
 著者        Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA
 タイトル      Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
 雑誌        Nat Genet 26:89-92 (2000)
 DOI:<a href=""https://doi.org/10.1038/79238"">10.1038/79238</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16728643"">16728643</a> (AIP)
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1126100"">10.1126/science.1126100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25470569"">25470569</a> (GPR101)
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1408028"">10.1056/NEJMoa1408028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7737262"">7737262</a> (GNAS)
 著者        Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE
 タイトル      G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
 雑誌        Eur J Clin Invest 25:128-31 (1995)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2362.1995.tb01537.x"">10.1111/j.1365-2362.1995.tb01537.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25485838"">25485838</a> (USP8)
 著者        Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
 タイトル      Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
 雑誌        Nat Genet 47:31-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3166"">10.1038/ng.3166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28413019"">28413019</a> (CDH23)
 著者        Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, Shou X, Ma Z, Peng H, Jian X, He W, Ye Z, Li Z, Wang Y, Ye H, Zhang Z, Shen M, Tang F, Chen H, Shi Z, Chen C, Chen Z, Shen Y, Wang Y, Lu S, Zhang J, Li Y, Li S, Mao Y, Zhou L, Yan H, Shi Y, Huang C, Zhao Y
 タイトル      Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
 雑誌        Am J Hum Genet 100:817-823 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.03.011"">10.1016/j.ajhg.2017.03.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28487882"">28487882</a> (RASD1)
 著者        Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
 タイトル      Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001602 (2017)
 DOI:<a href=""https://doi.org/10.1101/mcs.a001602"">10.1101/mcs.a001602</a>"
H01103,α1-アンチトリプシン欠乏症,,,"Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is the archetype of the serine protease inhibitor. Mutations in the A1AT gene lead to misfolding of the protein and accumulation within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT results in protease-antiprotease imbalance at the lung surface and emphysema ensues.",呼吸器系疾患; 先天性代謝異常症,,SERPINA1 [HSA:5265] [KO:K03984],,Cigarette smoke,,乾燥濃縮人α1-プロテイナーゼインヒビター [DR:D11965],,"ICD-11: 5C5A
 ICD-10: J43.9
 OMIM: 613490","PMID:18193338
 著者        Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG
 タイトル      Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.
 雑誌        J Inherit Metab Dis 31:21-34 (2008)
 DOI:10.1007/s10545-007-0748-y
 PMID:17562108
 著者        Mulgrew AT, Taggart CC, McElvaney NG
 タイトル      Alpha-1-antitrypsin deficiency: current concepts.
 雑誌        Lung 185:191-201 (2007)
 DOI:10.1007/s00408-007-9009-y
 PMID:15187777
 著者        Teckman JH
 タイトル      Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study.
 雑誌        J Pediatr Gastroenterol Nutr 39:34-7 (2004)
 DOI:10.1097/00005176-200407000-00007
 PMID:22245800
 著者        Lockett AD, Van Demark M, Gu Y, Schweitzer KS, Sigua N, Kamocki K, Fijalkowska I, Garrison J, Fisher AJ, Serban K, Wise RA, Flotte TR, Mueller C, Presson RG Jr, Petrache HI, Tuder RM, Petrache I
 タイトル      Effect of cigarette smoke exposure and structural modifications on the alpha-1 Antitrypsin interaction with caspases.
 雑誌        Mol Med 18:445-54 (2012)
 DOI:10.2119/molmed.2011.00207","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01103"">H01103</a>",α1-アンチトリプシン欠乏症,"Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is the archetype of the serine protease inhibitor. Mutations in the A1AT gene lead to misfolding of the protein and accumulation within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT results in protease-antiprotease imbalance at the lung surface and emphysema ensues.",,"SERPINA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5265"">5265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03984"">K03984</a>]",,Cigarette smoke,,"乾燥濃縮人α1-プロテイナーゼインヒビター [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11965"">D11965</a>]",,"ICD-11: 5C5A
 ICD-10: J43.9
 OMIM: <a href=""https://www.omim.org/entry/613490"">613490</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18193338"">18193338</a>
 著者        Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG
 タイトル      Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.
 雑誌        J Inherit Metab Dis 31:21-34 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0748-y"">10.1007/s10545-007-0748-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17562108"">17562108</a>
 著者        Mulgrew AT, Taggart CC, McElvaney NG
 タイトル      Alpha-1-antitrypsin deficiency: current concepts.
 雑誌        Lung 185:191-201 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00408-007-9009-y"">10.1007/s00408-007-9009-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15187777"">15187777</a>
 著者        Teckman JH
 タイトル      Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study.
 雑誌        J Pediatr Gastroenterol Nutr 39:34-7 (2004)
 DOI:<a href=""https://doi.org/10.1097/00005176-200407000-00007"">10.1097/00005176-200407000-00007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22245800"">22245800</a>
 著者        Lockett AD, Van Demark M, Gu Y, Schweitzer KS, Sigua N, Kamocki K, Fijalkowska I, Garrison J, Fisher AJ, Serban K, Wise RA, Flotte TR, Mueller C, Presson RG Jr, Petrache HI, Tuder RM, Petrache I
 タイトル      Effect of cigarette smoke exposure and structural modifications on the alpha-1 Antitrypsin interaction with caspases.
 雑誌        Mol Med 18:445-54 (2012)
 DOI:<a href=""https://doi.org/10.2119/molmed.2011.00207"">10.2119/molmed.2011.00207</a>"
H01104,"ロア糸状虫症
 上位グループ    フィラリア症 [DS:H02028]",,,"Loiasis is an infection with Loa loa, a filarial parasite found in central Africa transmitted by Chrysops fly bites. Loiasis is often asymptomatic.",感染症,,,Loa loa [GN:loa],,,,"Vector: Mango flies (Chrysops dimidiata, C. silacea, and C. langi)","ICD-11: 1F66.0
 ICD-10: B74.3
 MeSH: D008118","PMID:21722251
 著者        Hoerauf A, Pfarr K, Mand S, Debrah AY, Specht S
 タイトル      Filariasis in Africa--treatment challenges and prospects.
 雑誌        Clin Microbiol Infect 17:977-85 (2011)
 DOI:10.1111/j.1469-0691.2011.03586.x
 PMID:20847694
 著者        Bockarie MJ, Deb RM
 タイトル      Elimination of lymphatic filariasis: do we have the drugs to complete the job?
 雑誌        Curr Opin Infect Dis 23:617-20 (2010)
 DOI:10.1097/QCO.0b013e32833fdee5
 PMID:18466939
 著者        Padgett JJ, Jacobsen KH
 タイトル      Loiasis: African eye worm.
 雑誌        Trans R Soc Trop Med Hyg 102:983-9 (2008)
 DOI:10.1016/j.trstmh.2008.03.022
 PMID:17227650
 著者        Boussinesq M
 タイトル      Loiasis.
 雑誌        Ann Trop Med Parasitol 100:715-31 (2006)
 DOI:10.1179/136485906X112194","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01104"">H01104</a>","ロア糸状虫症
 上位グループ    フィラリア症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02028"">H02028</a>]","Loiasis is an infection with Loa loa, a filarial parasite found in central Africa transmitted by Chrysops fly bites. Loiasis is often asymptomatic.",,,"Loa loa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:loa"">loa</a>]",,,,"Vector: Mango flies (Chrysops dimidiata, C. silacea, and C. langi)","ICD-11: 1F66.0
 ICD-10: B74.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008118"">D008118</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21722251"">21722251</a>
 著者        Hoerauf A, Pfarr K, Mand S, Debrah AY, Specht S
 タイトル      Filariasis in Africa--treatment challenges and prospects.
 雑誌        Clin Microbiol Infect 17:977-85 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2011.03586.x"">10.1111/j.1469-0691.2011.03586.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20847694"">20847694</a>
 著者        Bockarie MJ, Deb RM
 タイトル      Elimination of lymphatic filariasis: do we have the drugs to complete the job?
 雑誌        Curr Opin Infect Dis 23:617-20 (2010)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e32833fdee5"">10.1097/QCO.0b013e32833fdee5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18466939"">18466939</a>
 著者        Padgett JJ, Jacobsen KH
 タイトル      Loiasis: African eye worm.
 雑誌        Trans R Soc Trop Med Hyg 102:983-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.trstmh.2008.03.022"">10.1016/j.trstmh.2008.03.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17227650"">17227650</a>
 著者        Boussinesq M
 タイトル      Loiasis.
 雑誌        Ann Trop Med Parasitol 100:715-31 (2006)
 DOI:<a href=""https://doi.org/10.1179/136485906X112194"">10.1179/136485906X112194</a>"
H01105,頭蓋-レンズ-縫合異形成,,,"Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.",先天奇形,,SEC23A [HSA:10484] [KO:K14006],,,,,,"ICD-11: LB70.Y
 ICD-10: Q75.8
 MeSH: C564332
 OMIM: 607812","PMID:21039434
 著者        Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J
 タイトル      Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
 雑誌        Clin Genet 80:169-76 (2011)
 DOI:10.1111/j.1399-0004.2010.01550.x
 PMID:16980979
 著者        Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W
 タイトル      Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
 雑誌        Nat Genet 38:1192-7 (2006)
 DOI:10.1038/ng1876","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01105"">H01105</a>",頭蓋-レンズ-縫合異形成,"Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.",,"SEC23A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10484"">10484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14006"">K14006</a>]",,,,,,"ICD-11: LB70.Y
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564332"">C564332</a>
 OMIM: <a href=""https://www.omim.org/entry/607812"">607812</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21039434"">21039434</a>
 著者        Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J
 タイトル      Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
 雑誌        Clin Genet 80:169-76 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01550.x"">10.1111/j.1399-0004.2010.01550.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16980979"">16980979</a>
 著者        Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W
 タイトル      Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
 雑誌        Nat Genet 38:1192-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1876"">10.1038/ng1876</a>"
H01106,プラスミノーゲン活性化因子インヒビター1欠損症,,,"Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases are due to elevated antigenic concentrations and their inhibitory activity. However, absence of cellular PAI-1 activity also causes several diseases. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare.",,,PAI1 [HSA:5054] [KO:K03982],,,,,,"ICD-11: 3B50.1
 ICD-10: D68.8
 OMIM: 613329","PMID:19141166 (description, gene, drug)
 著者        Mehta R, Shapiro AD
 タイトル      Plasminogen activator inhibitor type 1 deficiency.
 雑誌        Haemophilia 14:1255-60 (2008)
 DOI:10.1111/j.1365-2516.2008.01834.x
 PMID:21465481
 著者        Ghosh AK, Vaughan DE
 タイトル      PAI-1 in tissue fibrosis.
 雑誌        J Cell Physiol 227:493-507 (2012)
 DOI:10.1002/jcp.22783","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01106"">H01106</a>",プラスミノーゲン活性化因子インヒビター1欠損症,"Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases are due to elevated antigenic concentrations and their inhibitory activity. However, absence of cellular PAI-1 activity also causes several diseases. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare.",,"PAI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5054"">5054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03982"">K03982</a>]",,,,,,"ICD-11: 3B50.1
 ICD-10: D68.8
 OMIM: <a href=""https://www.omim.org/entry/613329"">613329</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141166"">19141166</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Mehta R, Shapiro AD
 タイトル      Plasminogen activator inhibitor type 1 deficiency.
 雑誌        Haemophilia 14:1255-60 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01834.x"">10.1111/j.1365-2516.2008.01834.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21465481"">21465481</a>
 著者        Ghosh AK, Vaughan DE
 タイトル      PAI-1 in tissue fibrosis.
 雑誌        J Cell Physiol 227:493-507 (2012)
 DOI:<a href=""https://doi.org/10.1002/jcp.22783"">10.1002/jcp.22783</a>"
H01107,"食物媒介吸虫症;
 肥大吸虫症;
 棘口吸虫症;
 異形吸虫症;
 横川吸虫症",,,"Intestinal fluke infections are intestinal, food-borne parasitic zoonoses that are endemic to the Far East and Southeast Asia. The degree of clinical symptoms disease depends on worm burden. Light infections are often characterized by mild symptoms such as diarrhea, constipation, dizziness, and headache. Heavy infections cause severe abdominal pain, diarrhea, vomiting, fever, nausea, and allergic reactions, and even death.",感染症,,,"Fasciolopsis buski
 Echinostoma hortense
 Heterophyidae heterophyes
 Metagonimus yokogawai",,,プラジカンテル [DR:D00471],Intermediate host of Fasciolopsis buski: Pulmonate planorbid snails,,"PMID:11199855
 著者        Graczyk TK, Gilman RH, Fried B
 タイトル      Fasciolopsiasis: is it a controllable food-borne disease?
 雑誌        Parasitol Res 87:80-3 (2001)
 DOI:10.1007/s004360000299
 PMID:19885337
 著者        Chai JY, Shin EH, Lee SH, Rim HJ
 タイトル      Foodborne intestinal flukes in Southeast Asia.
 雑誌        Korean J Parasitol 47 Suppl:S69-102 (2009)
 DOI:10.3347/kjp.2009.47.S.S69
 PMID:19597009
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:10.1128/CMR.00012-09","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01107"">H01107</a>","食物媒介吸虫症;
 肥大吸虫症;
 棘口吸虫症;
 異形吸虫症;
 横川吸虫症","Intestinal fluke infections are intestinal, food-borne parasitic zoonoses that are endemic to the Far East and Southeast Asia. The degree of clinical symptoms disease depends on worm burden. Light infections are often characterized by mild symptoms such as diarrhea, constipation, dizziness, and headache. Heavy infections cause severe abdominal pain, diarrhea, vomiting, fever, nausea, and allergic reactions, and even death.",,,"Fasciolopsis buski
 Echinostoma hortense
 Heterophyidae heterophyes
 Metagonimus yokogawai",,,"プラジカンテル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00471"">D00471</a>]",Intermediate host of Fasciolopsis buski: Pulmonate planorbid snails,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11199855"">11199855</a>
 著者        Graczyk TK, Gilman RH, Fried B
 タイトル      Fasciolopsiasis: is it a controllable food-borne disease?
 雑誌        Parasitol Res 87:80-3 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004360000299"">10.1007/s004360000299</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19885337"">19885337</a>
 著者        Chai JY, Shin EH, Lee SH, Rim HJ
 タイトル      Foodborne intestinal flukes in Southeast Asia.
 雑誌        Korean J Parasitol 47 Suppl:S69-102 (2009)
 DOI:<a href=""https://doi.org/10.3347/kjp.2009.47.S.S69"">10.3347/kjp.2009.47.S.S69</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597009"">19597009</a>
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00012-09"">10.1128/CMR.00012-09</a>"
H01108,"CD36 (glycoprotein IV, GPIV) 欠損症",,,"Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.",先天性代謝異常症,,CD36 [HSA:948] [KO:K06259],,,,,,"MeSH: C564245
 OMIM: 608404","PMID:12732446
 著者        Hirano K, Kuwasako T, Nakagawa-Toyama Y, Janabi M, Yamashita S, Matsuzawa Y
 タイトル      Pathophysiology of human genetic CD36 deficiency.
 雑誌        Trends Cardiovasc Med 13:136-41 (2003)
 DOI:10.1016/S1050-1738(03)00026-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01108"">H01108</a>","CD36 (glycoprotein IV, GPIV) 欠損症","Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.",,"CD36 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:948"">948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06259"">K06259</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564245"">C564245</a>
 OMIM: <a href=""https://www.omim.org/entry/608404"">608404</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12732446"">12732446</a>
 著者        Hirano K, Kuwasako T, Nakagawa-Toyama Y, Janabi M, Yamashita S, Matsuzawa Y
 タイトル      Pathophysiology of human genetic CD36 deficiency.
 雑誌        Trends Cardiovasc Med 13:136-41 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1050-1738(03)00026-4"">10.1016/S1050-1738(03)00026-4</a>"
H01109,"慢性皮膚粘膜カンジダ症
 上位グループ    カンジダ症 [DS:H00363]",,,"Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17.",免疫系疾患,,"(CANDF2) CARD9 [HSA:64170] [KO:K12794]
 (CANDF4) CLEC7A [HSA:64581] [KO:K10074]
 (CANDF5) IL17RA [HSA:23765] [KO:K05164]
 (CANDF6) IL17F [HSA:112744] [KO:K05494]
 (CANDF7) STAT1 [HSA:6772] [KO:K11220]
 (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124]
 (CANDF9) IL17RC [HSA:84818] [KO:K05166]",,,,イトラコナゾール [DR:D00350],,"ICD-11: 1F23.14
 ICD-10: B37.2
 MeSH: D002178
 OMIM: 212050 613108 613953 613956 614162 615527 616445","PMID:19864672 (CANDF2)
 著者        Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B
 タイトル      A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
 雑誌        N Engl J Med 361:1727-35 (2009)
 DOI:10.1056/NEJMoa0810719
 PMID:19864674 (CANDF4)
 著者        Ferwerda B, Ferwerda G, Plantinga TS, Willment JA, van Spriel AB, Venselaar H, Elbers CC, Johnson MD, Cambi A, Huysamen C, Jacobs L, Jansen T, Verheijen K, Masthoff L, Morre SA, Vriend G, Williams DL, Perfect JR, Joosten LA, Wijmenga C, van der Meer JW, Adema GJ, Kullberg BJ, Brown GD, Netea MG
 タイトル      Human dectin-1 deficiency and mucocutaneous fungal infections.
 雑誌        N Engl J Med 361:1760-7 (2009)
 DOI:10.1056/NEJMoa0901053
 PMID:21350122 (CANDF5_6)
 著者        Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL
 タイトル      Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
 雑誌        Science 332:65-8 (2011)
 DOI:10.1126/science.1200439
 PMID:21727188 (CANDF7)
 著者        Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL
 タイトル      Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 208:1635-48 (2011)
 DOI:10.1084/jem.20110958
 PMID:24120361 (CANDF8)
 著者        Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL
 タイトル      An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
 雑誌        Immunity 39:676-86 (2013)
 DOI:10.1016/j.immuni.2013.09.002
 PMID:25918342 (CANDF9)
 著者        Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A
 タイトル      Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 212:619-31 (2015)
 DOI:10.1084/jem.20141065","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01109"">H01109</a>","慢性皮膚粘膜カンジダ症
 上位グループ    カンジダ症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00363"">H00363</a>]","Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17.",,"(CANDF2) CARD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64170"">64170</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12794"">K12794</a>]
 (CANDF4) CLEC7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64581"">64581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10074"">K10074</a>]
 (CANDF5) IL17RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23765"">23765</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05164"">K05164</a>]
 (CANDF6) IL17F [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112744"">112744</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05494"">K05494</a>]
 (CANDF7) STAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6772"">6772</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11220"">K11220</a>]
 (CANDF8) TRAF3IP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10758"">10758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21124"">K21124</a>]
 (CANDF9) IL17RC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84818"">84818</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05166"">K05166</a>]",,,,"イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F23.14
 ICD-10: B37.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002178"">D002178</a>
 OMIM: <a href=""https://www.omim.org/entry/212050"">212050</a> <a href=""https://www.omim.org/entry/613108"">613108</a> <a href=""https://www.omim.org/entry/613953"">613953</a> <a href=""https://www.omim.org/entry/613956"">613956</a> <a href=""https://www.omim.org/entry/614162"">614162</a> <a href=""https://www.omim.org/entry/615527"">615527</a> <a href=""https://www.omim.org/entry/616445"">616445</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19864672"">19864672</a> (CANDF2)
 著者        Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B
 タイトル      A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
 雑誌        N Engl J Med 361:1727-35 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0810719"">10.1056/NEJMoa0810719</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19864674"">19864674</a> (CANDF4)
 著者        Ferwerda B, Ferwerda G, Plantinga TS, Willment JA, van Spriel AB, Venselaar H, Elbers CC, Johnson MD, Cambi A, Huysamen C, Jacobs L, Jansen T, Verheijen K, Masthoff L, Morre SA, Vriend G, Williams DL, Perfect JR, Joosten LA, Wijmenga C, van der Meer JW, Adema GJ, Kullberg BJ, Brown GD, Netea MG
 タイトル      Human dectin-1 deficiency and mucocutaneous fungal infections.
 雑誌        N Engl J Med 361:1760-7 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0901053"">10.1056/NEJMoa0901053</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21350122"">21350122</a> (CANDF5_6)
 著者        Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL
 タイトル      Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
 雑誌        Science 332:65-8 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1200439"">10.1126/science.1200439</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21727188"">21727188</a> (CANDF7)
 著者        Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL
 タイトル      Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 208:1635-48 (2011)
 DOI:<a href=""https://doi.org/10.1084/jem.20110958"">10.1084/jem.20110958</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24120361"">24120361</a> (CANDF8)
 著者        Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL
 タイトル      An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
 雑誌        Immunity 39:676-86 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.immuni.2013.09.002"">10.1016/j.immuni.2013.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25918342"">25918342</a> (CANDF9)
 著者        Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A
 タイトル      Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
 雑誌        J Exp Med 212:619-31 (2015)
 DOI:<a href=""https://doi.org/10.1084/jem.20141065"">10.1084/jem.20141065</a>"
H01110,気胸,,,"Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion. Spontaneous pneumothorax can be subclassified as primary or secondary. Primary spontaneous pneumothorax (PSP), which is defined as a pneumothorax without underlying lung disease, predominantly occurs in young, thin males. It is usually caused by ruptured pleural blebs or bullae. Approximately 10% of patients with PSP have a positive family history. Gene mutations in folliculin (FLCN) have been found.",,,FLCN [HSA:201163] [KO:K09594],,Smoking,,,PSP might be associated with some congenital disorders such as Marfan syndrome [DS:H00653].,"ICD-11: CB21
 ICD-10: J93.1
 OMIM: 173600","PMID:22343477 (description, environmental factor)
 著者        Grundy S, Bentley A, Tschopp JM
 タイトル      Primary spontaneous pneumothorax: a diffuse disease of the pleura.
 雑誌        Respiration 83:185-9 (2012)
 DOI:10.1159/000335993
 PMID:20872980 (description, gene, environmental factor)
 著者        Luh SP
 タイトル      Review: Diagnosis and treatment of primary spontaneous pneumothorax.
 雑誌        J Zhejiang Univ Sci B 11:735-44 (2010)
 DOI:10.1631/jzus.B1000131","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01110"">H01110</a>",気胸,"Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion. Spontaneous pneumothorax can be subclassified as primary or secondary. Primary spontaneous pneumothorax (PSP), which is defined as a pneumothorax without underlying lung disease, predominantly occurs in young, thin males. It is usually caused by ruptured pleural blebs or bullae. Approximately 10% of patients with PSP have a positive family history. Gene mutations in folliculin (FLCN) have been found.",,"FLCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201163"">201163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09594"">K09594</a>]",,Smoking,,,"PSP might be associated with some congenital disorders such as Marfan syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653]."">H00653].</a>","ICD-11: CB21
 ICD-10: J93.1
 OMIM: <a href=""https://www.omim.org/entry/173600"">173600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22343477"">22343477</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Grundy S, Bentley A, Tschopp JM
 タイトル      Primary spontaneous pneumothorax: a diffuse disease of the pleura.
 雑誌        Respiration 83:185-9 (2012)
 DOI:<a href=""https://doi.org/10.1159/000335993"">10.1159/000335993</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20872980"">20872980</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Luh SP
 タイトル      Review: Diagnosis and treatment of primary spontaneous pneumothorax.
 雑誌        J Zhejiang Univ Sci B 11:735-44 (2010)
 DOI:<a href=""https://doi.org/10.1631/jzus.B1000131"">10.1631/jzus.B1000131</a>"
H01111,コルチゾンレダクターゼ欠損,,,"Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between CRD and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD.",内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,"(CORTRD1) H6PD [HSA:9563] [KO:K13937]
 (CORTRD2) HSD11B1 [HSA:3290] [KO:K15680]",,,,,,"ICD-11: 5A71.Y
 ICD-10: E25.8
 MeSH: C536447
 OMIM: 604931 614662","PMID:21325058
 著者        Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP
 タイトル      Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
 雑誌        Proc Natl Acad Sci U S A 108:4111-6 (2011)
 DOI:10.1073/pnas.1014934108
 PMID:12858176
 著者        Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM
 タイトル      Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
 雑誌        Nat Genet 34:434-9 (2003)
 DOI:10.1038/ng1214
 PMID:16817821
 著者        Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI
 タイトル      Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
 雑誌        Clin Endocrinol (Oxf) 65:64-70 (2006)
 DOI:10.1111/j.1365-2265.2006.02547.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01111"">H01111</a>",コルチゾンレダクターゼ欠損,"Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between CRD and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD.","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","(CORTRD1) H6PD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9563"">9563</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13937"">K13937</a>]
 (CORTRD2) HSD11B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3290"">3290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15680"">K15680</a>]",,,,,,"ICD-11: 5A71.Y
 ICD-10: E25.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536447"">C536447</a>
 OMIM: <a href=""https://www.omim.org/entry/604931"">604931</a> <a href=""https://www.omim.org/entry/614662"">614662</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21325058"">21325058</a>
 著者        Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP
 タイトル      Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
 雑誌        Proc Natl Acad Sci U S A 108:4111-6 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1014934108"">10.1073/pnas.1014934108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12858176"">12858176</a>
 著者        Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM
 タイトル      Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
 雑誌        Nat Genet 34:434-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1214"">10.1038/ng1214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16817821"">16817821</a>
 著者        Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI
 タイトル      Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
 雑誌        Clin Endocrinol (Oxf) 65:64-70 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2265.2006.02547.x"">10.1111/j.1365-2265.2006.02547.x</a>"
H01112,PMSE 症候群,,,"Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic.",先天奇形,,STRADA [HSA:92335] [KO:K08271],,,,,,"MeSH: C567020
 OMIM: 611087","PMID:21263450
 著者        Goodarzi MO, Dumesic DA, Chazenbalk G, Azziz R
 タイトル      Polycystic ovary syndrome: etiology, pathogenesis and diagnosis.
 雑誌        Nat Rev Endocrinol 7:219-31 (2011)
 DOI:10.1038/nrendo.2010.217
 PMID:20424320
 著者        Osborne LR
 タイトル      Caveat mTOR: aberrant signaling disrupts corticogenesis.
 雑誌        J Clin Invest 120:1392-5 (2010)
 DOI:10.1172/JCI43030
 PMID:19513107
 著者        Zeqiraj E, Filippi BM, Goldie S, Navratilova I, Boudeau J, Deak M, Alessi DR, van Aalten DM
 タイトル      ATP and MO25alpha regulate the conformational state of the STRADalpha pseudokinase and activation of the LKB1 tumour suppressor.
 雑誌        PLoS Biol 7:e1000126 (2009)
 DOI:10.1371/journal.pbio.1000126","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01112"">H01112</a>",PMSE 症候群,"Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic.",,"STRADA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92335"">92335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08271"">K08271</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567020"">C567020</a>
 OMIM: <a href=""https://www.omim.org/entry/611087"">611087</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21263450"">21263450</a>
 著者        Goodarzi MO, Dumesic DA, Chazenbalk G, Azziz R
 タイトル      Polycystic ovary syndrome: etiology, pathogenesis and diagnosis.
 雑誌        Nat Rev Endocrinol 7:219-31 (2011)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2010.217"">10.1038/nrendo.2010.217</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20424320"">20424320</a>
 著者        Osborne LR
 タイトル      Caveat mTOR: aberrant signaling disrupts corticogenesis.
 雑誌        J Clin Invest 120:1392-5 (2010)
 DOI:<a href=""https://doi.org/10.1172/JCI43030"">10.1172/JCI43030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19513107"">19513107</a>
 著者        Zeqiraj E, Filippi BM, Goldie S, Navratilova I, Boudeau J, Deak M, Alessi DR, van Aalten DM
 タイトル      ATP and MO25alpha regulate the conformational state of the STRADalpha pseudokinase and activation of the LKB1 tumour suppressor.
 雑誌        PLoS Biol 7:e1000126 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pbio.1000126"">10.1371/journal.pbio.1000126</a>"
H01113,"酸性ホスファターゼ欠損症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy.",先天性代謝異常症; リソソーム蓄積症,,ACP2 [HSA:53] [KO:K14410],,,,,,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: C562645
 OMIM: 200950","PMID:5410815
 著者        Nadler HL, Egan TJ
 タイトル      Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.
 雑誌        N Engl J Med 282:302-7 (1970)
 DOI:10.1056/NEJM197002052820604
 PMID:4139985
 著者        Nadler HL
 タイトル      Treatment of acid phosphatase deficiency disorders.
 雑誌        Birth Defects Orig Artic Ser 9:195-7 (1973)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01113"">H01113</a>","酸性ホスファターゼ欠損症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy.",,"ACP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53"">53</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14410"">K14410</a>]",,,,,,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562645"">C562645</a>
 OMIM: <a href=""https://www.omim.org/entry/200950"">200950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5410815"">5410815</a>
 著者        Nadler HL, Egan TJ
 タイトル      Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.
 雑誌        N Engl J Med 282:302-7 (1970)
 DOI:<a href=""https://doi.org/10.1056/NEJM197002052820604"">10.1056/NEJM197002052820604</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4139985"">4139985</a>
 著者        Nadler HL
 タイトル      Treatment of acid phosphatase deficiency disorders.
 雑誌        Birth Defects Orig Artic Ser 9:195-7 (1973)"
H01114,"眼組織欠損症
 下位グループ    虹彩脈絡膜および網膜の欠損
 視神経の欠損
 視神経形成不全 [DS:H02203]",,,"Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been reported that mutation of SALL2 causes recessive ocular coloboma.",先天奇形,,"PAX6 [HSA:5080] [KO:K08031]
 SALL2 [HSA:6297] [KO:K19871]
 YAP1 [HSA:10413] [KO:K16687]",,,,,,"ICD-11: LA11
 ICD-10: Q13
 MeSH: D003103
 OMIM: 120200 120433 216820","PMID:21655361
 著者        Kumar K, Tanwar M, Naithani P, Insaan R, Garg S, Venkatesh P, Dada R
 タイトル      PAX6 gene analysis in irido-fundal coloboma.
 雑誌        Mol Vis 17:1414-9 (2011)
 PMID:18408502
 著者        Gopal L
 タイトル      A clinical and optical coherence tomography study of choroidal colobomas.
 雑誌        Curr Opin Ophthalmol 19:248-54 (2008)
 DOI:10.1097/ICU.0b013e3282fc2604
 PMID:12721955
 著者        Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M
 タイトル      Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
 雑誌        Am J Hum Genet 72:1565-70 (2003)
 DOI:10.1086/375555
 PMID:24412933
 著者        Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC
 タイトル      Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
 雑誌        Hum Mol Genet 23:2511-26 (2014)
 DOI:10.1093/hmg/ddt643
 PMID:24462371
 著者        Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO, Fitzpatrick DR
 タイトル      Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
 雑誌        Am J Hum Genet 94:295-302 (2014)
 DOI:10.1016/j.ajhg.2014.01.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01114"">H01114</a>","眼組織欠損症
 下位グループ    虹彩脈絡膜および網膜の欠損
 視神経の欠損
 視神経形成不全 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02203"">H02203</a>]","Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been reported that mutation of SALL2 causes recessive ocular coloboma.",,"PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]
 SALL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6297"">6297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19871"">K19871</a>]
 YAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10413"">10413</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16687"">K16687</a>]",,,,,,"ICD-11: LA11
 ICD-10: Q13
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003103"">D003103</a>
 OMIM: <a href=""https://www.omim.org/entry/120200"">120200</a> <a href=""https://www.omim.org/entry/120433"">120433</a> <a href=""https://www.omim.org/entry/216820"">216820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21655361"">21655361</a>
 著者        Kumar K, Tanwar M, Naithani P, Insaan R, Garg S, Venkatesh P, Dada R
 タイトル      PAX6 gene analysis in irido-fundal coloboma.
 雑誌        Mol Vis 17:1414-9 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18408502"">18408502</a>
 著者        Gopal L
 タイトル      A clinical and optical coherence tomography study of choroidal colobomas.
 雑誌        Curr Opin Ophthalmol 19:248-54 (2008)
 DOI:<a href=""https://doi.org/10.1097/ICU.0b013e3282fc2604"">10.1097/ICU.0b013e3282fc2604</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12721955"">12721955</a>
 著者        Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M
 タイトル      Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
 雑誌        Am J Hum Genet 72:1565-70 (2003)
 DOI:<a href=""https://doi.org/10.1086/375555"">10.1086/375555</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24412933"">24412933</a>
 著者        Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC
 タイトル      Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
 雑誌        Hum Mol Genet 23:2511-26 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt643"">10.1093/hmg/ddt643</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24462371"">24462371</a>
 著者        Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO, Fitzpatrick DR
 タイトル      Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
 雑誌        Am J Hum Genet 94:295-302 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.01.001"">10.1016/j.ajhg.2014.01.001</a>"
H01115,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",,,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Mutations in the ABHD12 gene cause PHARC disease.",,,ABHD12 [HSA:26090] [KO:K13704],,,,,,"MeSH: C567203
 OMIM: 612674","PMID:20797687
 著者        Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM
 タイトル      Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
 雑誌        Am J Hum Genet 87:410-7 (2010)
 DOI:10.1016/j.ajhg.2010.08.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01115"">H01115</a>","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Mutations in the ABHD12 gene cause PHARC disease.",,"ABHD12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26090"">26090</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13704"">K13704</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567203"">C567203</a>
 OMIM: <a href=""https://www.omim.org/entry/612674"">612674</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20797687"">20797687</a>
 著者        Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM
 タイトル      Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
 雑誌        Am J Hum Genet 87:410-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.002"">10.1016/j.ajhg.2010.08.002</a>"
H01116,全脈絡膜萎縮症,,,"Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.",神経系疾患,,CHM [HSA:1121] [KO:K23460],,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: D015794
 OMIM: 303100","PMID:22017263
 著者        Coussa RG, Traboulsi EI
 タイトル      Choroideremia: a review of general findings and pathogenesis.
 雑誌        Ophthalmic Genet 33:57-65 (2012)
 DOI:10.3109/13816810.2011.620056","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01116"">H01116</a>",全脈絡膜萎縮症,"Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.",,"CHM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1121"">1121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23460"">K23460</a>]",,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015794"">D015794</a>
 OMIM: <a href=""https://www.omim.org/entry/303100"">303100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22017263"">22017263</a>
 著者        Coussa RG, Traboulsi EI
 タイトル      Choroideremia: a review of general findings and pathogenesis.
 雑誌        Ophthalmic Genet 33:57-65 (2012)
 DOI:<a href=""https://doi.org/10.3109/13816810.2011.620056"">10.3109/13816810.2011.620056</a>"
H01117,"慢性再発性多発性骨髄炎;
 Majeed 症候群",,,"Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome.",免疫系疾患,,LPIN2 [HSA:9663] [KO:K15728],,,,,,"ICD-11: 4A00.Y
 ICD-10: D89.8
 MeSH: C537839
 OMIM: 609628","PMID:17330256
 著者        Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ
 タイトル      A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
 雑誌        Arthritis Rheum 56:960-4 (2007)
 DOI:10.1002/art.22431
 PMID:15994876
 著者        Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H
 タイトル      Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
 雑誌        J Med Genet 42:551-7 (2005)
 DOI:10.1136/jmg.2005.030759","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01117"">H01117</a>","慢性再発性多発性骨髄炎;
 Majeed 症候群","Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome.",,"LPIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9663"">9663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15728"">K15728</a>]",,,,,,"ICD-11: 4A00.Y
 ICD-10: D89.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537839"">C537839</a>
 OMIM: <a href=""https://www.omim.org/entry/609628"">609628</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17330256"">17330256</a>
 著者        Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ
 タイトル      A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
 雑誌        Arthritis Rheum 56:960-4 (2007)
 DOI:<a href=""https://doi.org/10.1002/art.22431"">10.1002/art.22431</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15994876"">15994876</a>
 著者        Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H
 タイトル      Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
 雑誌        J Med Genet 42:551-7 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.030759"">10.1136/jmg.2005.030759</a>"
H01118,"進行性外眼筋麻痺;
 常染色体優性遺伝性進行性外眼筋麻痺
 下位グループ    常染色体劣性遺伝性進行性外眼筋麻痺 [DS:H01395]
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Progressive external ophthalmoplegia (PEO) is a a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia and a variable neck and limb muscle weakness. Most sporadic PEO cases have an acquired genetic disease with a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in muscle. In familial PEO, several modes of inheritance occur. Patients may have a nuclear gene defect that predisposes to the accumulation of mtDNA deletions. Recently, mutations in such nuclear genes have been discovered. Some mutations are dominant (PEOA) and others recessive.",神経系疾患; 先天性代謝異常症,,"(PEOA1) POLG [HSA:5428] [KO:K02332]
 (PEOA2) SLC25A4 [HSA:291] [KO:K05863]
 (PEOA3) TWNK [HSA:56652] [KO:K17680]
 (PEOA4) POLG2 [HSA:11232] [KO:K02333]
 (PEOA5) RRM2B [HSA:50484] [KO:K10808]
 (PEOA6) DNA2 [HSA:1763] [KO:K10742]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.4
 MeSH: D017246
 OMIM: 157640 609283 609286 610131 613077 615156","PMID:12975295
 著者        Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S
 タイトル      Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
 雑誌        Arch Neurol 60:1279-84 (2003)
 DOI:10.1001/archneur.60.9.1279
 PMID:12835509
 著者        Van Goethem G, Martin JJ, Van Broeckhoven C
 タイトル      Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
 雑誌        Neuromolecular Med 3:129-46 (2003)
 DOI:10.1385/NMM:3:3:129
 PMID:22176657
 著者        Copeland WC
 タイトル      Defects in mitochondrial DNA replication and human disease.
 雑誌        Crit Rev Biochem Mol Biol 47:64-74 (2012)
 DOI:10.3109/10409238.2011.632763","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01118"">H01118</a>","進行性外眼筋麻痺;
 常染色体優性遺伝性進行性外眼筋麻痺
 下位グループ    常染色体劣性遺伝性進行性外眼筋麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01395"">H01395</a>]
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Progressive external ophthalmoplegia (PEO) is a a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia and a variable neck and limb muscle weakness. Most sporadic PEO cases have an acquired genetic disease with a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in muscle. In familial PEO, several modes of inheritance occur. Patients may have a nuclear gene defect that predisposes to the accumulation of mtDNA deletions. Recently, mutations in such nuclear genes have been discovered. Some mutations are dominant (PEOA) and others recessive.",,"(PEOA1) POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]
 (PEOA2) SLC25A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:291"">291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05863"">K05863</a>]
 (PEOA3) TWNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56652"">56652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17680"">K17680</a>]
 (PEOA4) POLG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11232"">11232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02333"">K02333</a>]
 (PEOA5) RRM2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50484"">50484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10808"">K10808</a>]
 (PEOA6) DNA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1763"">1763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10742"">K10742</a>]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017246"">D017246</a>
 OMIM: <a href=""https://www.omim.org/entry/157640"">157640</a> <a href=""https://www.omim.org/entry/609283"">609283</a> <a href=""https://www.omim.org/entry/609286"">609286</a> <a href=""https://www.omim.org/entry/610131"">610131</a> <a href=""https://www.omim.org/entry/613077"">613077</a> <a href=""https://www.omim.org/entry/615156"">615156</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12975295"">12975295</a>
 著者        Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S
 タイトル      Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
 雑誌        Arch Neurol 60:1279-84 (2003)
 DOI:<a href=""https://doi.org/10.1001/archneur.60.9.1279"">10.1001/archneur.60.9.1279</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12835509"">12835509</a>
 著者        Van Goethem G, Martin JJ, Van Broeckhoven C
 タイトル      Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
 雑誌        Neuromolecular Med 3:129-46 (2003)
 DOI:<a href=""https://doi.org/10.1385/NMM:"">10.1385/NMM:</a><a href=""https://doi.org/3:"">3:</a><a href=""https://doi.org/3:"">3:</a><a href=""https://doi.org/129"">129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22176657"">22176657</a>
 著者        Copeland WC
 タイトル      Defects in mitochondrial DNA replication and human disease.
 雑誌        Crit Rev Biochem Mol Biol 47:64-74 (2012)
 DOI:<a href=""https://doi.org/10.3109/10409238.2011.632763"">10.3109/10409238.2011.632763</a>"
H01119,プロリダーゼ欠損症,,,"Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss of prolidase activity are responsible for PD.",先天代謝異常症,,PEPD [HSA:5184] [KO:K14213],,,,,,"ICD-11: 5C50.F0
 ICD-10: E72.8
 MeSH: D056732
 OMIM: 170100","PMID:18340504
 著者        Lupi A, Tenni R, Rossi A, Cetta G, Forlino A
 タイトル      Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.
 雑誌        Amino Acids 35:739-52 (2008)
 DOI:10.1007/s00726-008-0055-4
 PMID:16434239
 著者        Viglio S, Annovazzi L, Conti B, Genta I, Perugini P, Zanone C, Casado B, Cetta G, Iadarola P
 タイトル      The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach.
 雑誌        J Chromatogr B Analyt Technol Biomed Life Sci 832:1-8 (2006)
 DOI:10.1016/j.jchromb.2005.12.049","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01119"">H01119</a>",プロリダーゼ欠損症,"Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss of prolidase activity are responsible for PD.",,"PEPD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5184"">5184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14213"">K14213</a>]",,,,,,"ICD-11: 5C50.F0
 ICD-10: E72.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056732"">D056732</a>
 OMIM: <a href=""https://www.omim.org/entry/170100"">170100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18340504"">18340504</a>
 著者        Lupi A, Tenni R, Rossi A, Cetta G, Forlino A
 タイトル      Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.
 雑誌        Amino Acids 35:739-52 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00726-008-0055-4"">10.1007/s00726-008-0055-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16434239"">16434239</a>
 著者        Viglio S, Annovazzi L, Conti B, Genta I, Perugini P, Zanone C, Casado B, Cetta G, Iadarola P
 タイトル      The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach.
 雑誌        J Chromatogr B Analyt Technol Biomed Life Sci 832:1-8 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jchromb.2005.12.049"">10.1016/j.jchromb.2005.12.049</a>"
H01120,Fowler syndrome,,,"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. Mutations and a large deletion in the FLVCR2 gene have been revealed in the families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis.",,,FLVCR2 [HSA:55640] [KO:K08220],,,,,,OMIM: 225790,"PMID:20206334
 著者        Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessieres B, Dechelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER
 タイトル      Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
 雑誌        Am J Hum Genet 86:471-8 (2010)
 DOI:10.1016/j.ajhg.2010.02.004
 PMID:20690116
 著者        Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T
 タイトル      High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
 雑誌        Hum Mutat 31:1134-41 (2010)
 DOI:10.1002/humu.21329","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01120"">H01120</a>",Fowler syndrome,"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. Mutations and a large deletion in the FLVCR2 gene have been revealed in the families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis.",,"FLVCR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55640"">55640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08220"">K08220</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/225790"">225790</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20206334"">20206334</a>
 著者        Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessieres B, Dechelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER
 タイトル      Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
 雑誌        Am J Hum Genet 86:471-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.02.004"">10.1016/j.ajhg.2010.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20690116"">20690116</a>
 著者        Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T
 タイトル      High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
 雑誌        Hum Mutat 31:1134-41 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21329"">10.1002/humu.21329</a>"
H01121,SCOT欠損症,,,Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency of SCOT activity inhibits peripheral ketone body utilization and causes episodes of severe ketoacidosis.,先天性代謝異常症,,OXCT1 [HSA:5019] [KO:K01027],,,,,,"ICD-11: 5C52.02
 ICD-10: E71.3
 MeSH: C537527
 OMIM: 245050","PMID:21296660
 著者        Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N
 タイトル      Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
 雑誌        Biochim Biophys Acta 1812:619-24 (2011)
 DOI:10.1016/j.bbadis.2011.01.015
 PMID:9392403
 著者        Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP
 タイトル      Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
 雑誌        Eur J Pediatr 156:870-3 (1997)
 DOI:10.1007/s004310050733
 PMID:21479626
 著者        Sass JO
 タイトル      Inborn errors of ketogenesis and ketone body utilization.
 雑誌        J Inherit Metab Dis 35:23-8 (2012)
 DOI:10.1007/s10545-011-9324-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01121"">H01121</a>",SCOT欠損症,Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency of SCOT activity inhibits peripheral ketone body utilization and causes episodes of severe ketoacidosis.,,"OXCT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5019"">5019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01027"">K01027</a>]",,,,,,"ICD-11: 5C52.02
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537527"">C537527</a>
 OMIM: <a href=""https://www.omim.org/entry/245050"">245050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21296660"">21296660</a>
 著者        Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N
 タイトル      Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
 雑誌        Biochim Biophys Acta 1812:619-24 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2011.01.015"">10.1016/j.bbadis.2011.01.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9392403"">9392403</a>
 著者        Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP
 タイトル      Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
 雑誌        Eur J Pediatr 156:870-3 (1997)
 DOI:<a href=""https://doi.org/10.1007/s004310050733"">10.1007/s004310050733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21479626"">21479626</a>
 著者        Sass JO
 タイトル      Inborn errors of ketogenesis and ketone body utilization.
 雑誌        J Inherit Metab Dis 35:23-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10545-011-9324-6"">10.1007/s10545-011-9324-6</a>"
H01122,"先天性肺胞蛋白症;
 肺サーファクタント代謝異常症
 上位グループ    肺胞蛋白症 [DS:H00217]",,,"Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in type II epithelial cells and characterized by respiratory distress after birth. Congenital PAP is also associated with mutations in CSF2RA and CSF2RB genes, encoding alpha and beta chains of the GM-CSF receptor.",呼吸器疾患,,"(SMDP1) SFTPB [HSA:6439]
 (SMDP2) SFTPC [HSA:6440]
 (SMDP3) ABCA3 [HSA:21] [KO:K05643]
 (SMDP4) CSF2RA [HSA:1438] [KO:K05066]
 (SMDP5) CSF2RB [HSA:1439] [KO:K04738]",,"Inhalation of inorganic dust [CPD:C19572] or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, and certain infections",,,A similar but histopathologically distinct disorder of surfactant homeostasis can occur with mutations for the genes encoding surfactant proteins B or C [DS:H00217].,"ICD-11: CB04.31
 ICD-10: J84.0
 MeSH: D011649
 OMIM: 265120 610913 610921 300770 614370","PMID:21632797
 著者        Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Eur Respir Rev 20:98-107 (2011)
 DOI:10.1183/09059180.00001311
 PMID:20623372 (description, gene, environmental factor, comment)
 著者        Martinez-Moczygemba M, Huston DP
 タイトル      Immune dysregulation in the pathogenesis of pulmonary alveolar proteinosis.
 雑誌        Curr Allergy Asthma Rep 10:320-5 (2010)
 DOI:10.1007/s11882-010-0134-y
 PMID:5218289
 著者        Staegemann G
 タイトル      [The new extension of the Klinik und Poliklinik fur Stomatologie of the Carl Gustav Carus Medical Academy in Dresden].
 雑誌        Dtsch Stomatol 16:207-15 (1966)
 PMID:21496372
 著者        Khan A, Agarwal R
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Respir Care 56:1016-28 (2011)
 DOI:10.4187/respcare.01125
 PMID:21075760
 著者        Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
 タイトル      Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
 雑誌        J Med Genet 48:205-9 (2011)
 DOI:10.1136/jmg.2010.082586","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01122"">H01122</a>","先天性肺胞蛋白症;
 肺サーファクタント代謝異常症
 上位グループ    肺胞蛋白症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00217"">H00217</a>]","Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in type II epithelial cells and characterized by respiratory distress after birth. Congenital PAP is also associated with mutations in CSF2RA and CSF2RB genes, encoding alpha and beta chains of the GM-CSF receptor.",,"(SMDP1) SFTPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6439"">6439</a>]
 (SMDP2) SFTPC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6440"">6440</a>]
 (SMDP3) ABCA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:21"">21</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05643"">K05643</a>]
 (SMDP4) CSF2RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1438"">1438</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05066"">K05066</a>]
 (SMDP5) CSF2RB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1439"">1439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04738"">K04738</a>]",,"Inhalation of inorganic dust [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C19572"">C19572</a>] or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, and certain infections",,,"A similar but histopathologically distinct disorder of surfactant homeostasis can occur with mutations for the genes encoding surfactant proteins B or C [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00217]."">H00217].</a>","ICD-11: CB04.31
 ICD-10: J84.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011649"">D011649</a>
 OMIM: <a href=""https://www.omim.org/entry/265120"">265120</a> <a href=""https://www.omim.org/entry/610913"">610913</a> <a href=""https://www.omim.org/entry/610921"">610921</a> <a href=""https://www.omim.org/entry/300770"">300770</a> <a href=""https://www.omim.org/entry/614370"">614370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21632797"">21632797</a>
 著者        Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Eur Respir Rev 20:98-107 (2011)
 DOI:<a href=""https://doi.org/10.1183/09059180.00001311"">10.1183/09059180.00001311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20623372"">20623372</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor,"">factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Martinez-Moczygemba M, Huston DP
 タイトル      Immune dysregulation in the pathogenesis of pulmonary alveolar proteinosis.
 雑誌        Curr Allergy Asthma Rep 10:320-5 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11882-010-0134-y"">10.1007/s11882-010-0134-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5218289"">5218289</a>
 著者        Staegemann G
 タイトル      [The new extension of the Klinik und Poliklinik fur Stomatologie of the Carl Gustav Carus Medical Academy in Dresden].
 雑誌        Dtsch Stomatol 16:207-15 (1966)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21496372"">21496372</a>
 著者        Khan A, Agarwal R
 タイトル      Pulmonary alveolar proteinosis.
 雑誌        Respir Care 56:1016-28 (2011)
 DOI:<a href=""https://doi.org/10.4187/respcare.01125"">10.4187/respcare.01125</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21075760"">21075760</a>
 著者        Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
 タイトル      Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
 雑誌        J Med Genet 48:205-9 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2010.082586"">10.1136/jmg.2010.082586</a>"
H01123,HMG-CoA合成酵素欠損症,,,"HMG-CoA synthase (HMGCS) deficiency is a autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 deficiency causes hypoketotic hypoglycaemia after prolonged fasting. To date, no mutations have been identified in the human cytosolic HMGCS1.",先天性代謝異常症; ミトコンドリア病,,HMGCS2 [HSA:3158] [KO:K01641],,,,,,"ICD-11: 5C52.02
 ICD-10: E71.3
 MeSH: C567784
 OMIM: 605911","PMID:20346956
 著者        Shafqat N, Turnbull A, Zschocke J, Oppermann U, Yue WW
 タイトル      Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
 雑誌        J Mol Biol 398:497-506 (2010)
 DOI:10.1016/j.jmb.2010.03.034
 PMID:11479731
 著者        Aledo R, Zschocke J, Pie J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG
 タイトル      Genetic basis of mitochondrial HMG-CoA synthase deficiency.
 雑誌        Hum Genet 109:19-23 (2001)
 DOI:10.1007/s004390100554
 PMID:21479626
 著者        Sass JO
 タイトル      Inborn errors of ketogenesis and ketone body utilization.
 雑誌        J Inherit Metab Dis 35:23-8 (2012)
 DOI:10.1007/s10545-011-9324-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01123"">H01123</a>",HMG-CoA合成酵素欠損症,"HMG-CoA synthase (HMGCS) deficiency is a autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 deficiency causes hypoketotic hypoglycaemia after prolonged fasting. To date, no mutations have been identified in the human cytosolic HMGCS1.",,"HMGCS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3158"">3158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01641"">K01641</a>]",,,,,,"ICD-11: 5C52.02
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567784"">C567784</a>
 OMIM: <a href=""https://www.omim.org/entry/605911"">605911</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20346956"">20346956</a>
 著者        Shafqat N, Turnbull A, Zschocke J, Oppermann U, Yue WW
 タイトル      Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
 雑誌        J Mol Biol 398:497-506 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jmb.2010.03.034"">10.1016/j.jmb.2010.03.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11479731"">11479731</a>
 著者        Aledo R, Zschocke J, Pie J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG
 タイトル      Genetic basis of mitochondrial HMG-CoA synthase deficiency.
 雑誌        Hum Genet 109:19-23 (2001)
 DOI:<a href=""https://doi.org/10.1007/s004390100554"">10.1007/s004390100554</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21479626"">21479626</a>
 著者        Sass JO
 タイトル      Inborn errors of ketogenesis and ketone body utilization.
 雑誌        J Inherit Metab Dis 35:23-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10545-011-9324-6"">10.1007/s10545-011-9324-6</a>"
H01124,PNPO 欠損症,,,"Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents with neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified.",神経系疾患,,PNPO [HSA:55163] [KO:K00275],,,,,,"ICD-11: 5C63.Y
 ICD-10: G40.8
 MeSH: C566449
 OMIM: 610090","PMID:18485777
 著者        Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC
 タイトル      PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
 雑誌        Mol Genet Metab 94:431-4 (2008)
 DOI:10.1016/j.ymgme.2008.04.008
 PMID:18024216 (description, gene, drug)
 著者        Ruiz A, Garcia-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A
 タイトル      A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
 雑誌        Mol Genet Metab 93:216-8 (2008)
 DOI:10.1016/j.ymgme.2007.10.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01124"">H01124</a>",PNPO 欠損症,"Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents with neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified.",,"PNPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55163"">55163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00275"">K00275</a>]",,,,,,"ICD-11: 5C63.Y
 ICD-10: G40.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566449"">C566449</a>
 OMIM: <a href=""https://www.omim.org/entry/610090"">610090</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18485777"">18485777</a>
 著者        Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC
 タイトル      PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
 雑誌        Mol Genet Metab 94:431-4 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2008.04.008"">10.1016/j.ymgme.2008.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18024216"">18024216</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Ruiz A, Garcia-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A
 タイトル      A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
 雑誌        Mol Genet Metab 93:216-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2007.10.003"">10.1016/j.ymgme.2007.10.003</a>"
H01125,熱変形赤血球症,,,"Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP patients exhibit qualitative and quantitative abnormalities of the erythrocyte membrane protein spectrin, the principal structural component of the erythrocyte membrane skeleton. Qualitative spectrin defects are typically associated with missense mutations that lead to abnormal spectrin self-association, a process critical for membrane structure and function.",血液疾患,,SPTA1 [HSA:6708] [KO:K06114],,,,,In vitro studies suggest that it may confer some resistance to infection with the malarial parasite Plasmodium falciparum [DS:H00361].,"ICD-11: 3A10.2
 ICD-10: D58.1
 OMIM: 266140","PMID:18815189
 著者        Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG
 タイトル      Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis.
 雑誌        Haematologica 93:1752-4 (2008)
 DOI:10.3324/haematol.13639
 PMID:17279012 (description, gene, comment)
 著者        Ramos MC, Schafernak KT, Peterson LC
 タイトル      Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia.
 雑誌        J Pediatr Hematol Oncol 29:128-9 (2007)
 DOI:10.1097/MPH.0b013e3180320b6f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01125"">H01125</a>",熱変形赤血球症,"Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP patients exhibit qualitative and quantitative abnormalities of the erythrocyte membrane protein spectrin, the principal structural component of the erythrocyte membrane skeleton. Qualitative spectrin defects are typically associated with missense mutations that lead to abnormal spectrin self-association, a process critical for membrane structure and function.",,"SPTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6708"">6708</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06114"">K06114</a>]",,,,,"In vitro studies suggest that it may confer some resistance to infection with the malarial parasite Plasmodium falciparum [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00361]."">H00361].</a>","ICD-11: 3A10.2
 ICD-10: D58.1
 OMIM: <a href=""https://www.omim.org/entry/266140"">266140</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18815189"">18815189</a>
 著者        Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG
 タイトル      Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis.
 雑誌        Haematologica 93:1752-4 (2008)
 DOI:<a href=""https://doi.org/10.3324/haematol.13639"">10.3324/haematol.13639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17279012"">17279012</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Ramos MC, Schafernak KT, Peterson LC
 タイトル      Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia.
 雑誌        J Pediatr Hematol Oncol 29:128-9 (2007)
 DOI:<a href=""https://doi.org/10.1097/MPH.0b013e3180320b6f"">10.1097/MPH.0b013e3180320b6f</a>"
H01126,腎性糖尿,,,"Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity to develop hypoglycemia and hypovolemia. FRG is associated with mutations in the SGLT2 gene.",先天性代謝異常症,,SLC5A2 [HSA:6524] [KO:K14382],,,,,,"ICD-11: 5C61.5
 ICD-10: E74.8
 MeSH: D006030
 OMIM: 233100","PMID:20425568
 著者        Patel AK, Fonseca V
 タイトル      Turning glucosuria into a therapy: Efficacy and safety with SGLT2 inhibitors.
 雑誌        Curr Diab Rep 10:101-7 (2010)
 DOI:10.1007/s11892-010-0095-5
 PMID:19965550
 著者        Santer R, Calado J
 タイトル      Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
 雑誌        Clin J Am Soc Nephrol 5:133-41 (2010)
 DOI:10.2215/CJN.04010609","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01126"">H01126</a>",腎性糖尿,"Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity to develop hypoglycemia and hypovolemia. FRG is associated with mutations in the SGLT2 gene.",,"SLC5A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6524"">6524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14382"">K14382</a>]",,,,,,"ICD-11: 5C61.5
 ICD-10: E74.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006030"">D006030</a>
 OMIM: <a href=""https://www.omim.org/entry/233100"">233100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425568"">20425568</a>
 著者        Patel AK, Fonseca V
 タイトル      Turning glucosuria into a therapy: Efficacy and safety with SGLT2 inhibitors.
 雑誌        Curr Diab Rep 10:101-7 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11892-010-0095-5"">10.1007/s11892-010-0095-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19965550"">19965550</a>
 著者        Santer R, Calado J
 タイトル      Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
 雑誌        Clin J Am Soc Nephrol 5:133-41 (2010)
 DOI:<a href=""https://doi.org/10.2215/CJN.04010609"">10.2215/CJN.04010609</a>"
H01127,"PIGM 先天性グリコシル化異常症
 上位グループ    先天性 GPI 欠損症 [DS:H01489]",,,PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.,先天性代謝異常症,nt06018  GPI-anchor biosynthesis,PIGM [HSA:93183] [KO:K05284],,,,,,"ICD-11: 5C54.Y
 ICD-10: E88.8
 MeSH: C537277
 OMIM: 610293","PMID:16767100
 著者        Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A
 タイトル      Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
 雑誌        Nat Med 12:846-51 (2006)
 DOI:10.1038/nm1410
 PMID:17442906
 著者        Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A
 タイトル      Targeted therapy for inherited GPI deficiency.
 雑誌        N Engl J Med 356:1641-7 (2007)
 DOI:10.1056/NEJMoa063369","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01127"">H01127</a>","PIGM 先天性グリコシル化異常症
 上位グループ    先天性 GPI 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>]",PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.,"<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","PIGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93183"">93183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05284"">K05284</a>]",,,,,,"ICD-11: 5C54.Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537277"">C537277</a>
 OMIM: <a href=""https://www.omim.org/entry/610293"">610293</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16767100"">16767100</a>
 著者        Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A
 タイトル      Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
 雑誌        Nat Med 12:846-51 (2006)
 DOI:<a href=""https://doi.org/10.1038/nm1410"">10.1038/nm1410</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17442906"">17442906</a>
 著者        Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A
 タイトル      Targeted therapy for inherited GPI deficiency.
 雑誌        N Engl J Med 356:1641-7 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa063369"">10.1056/NEJMoa063369</a>"
H01128,"細網異形成症
 上位グループ    T-B- 重症複合免疫不全症 [DS:H00092]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2).",免疫系疾患,,AK2 [HSA:204] [KO:K00939],,,,,,"ICD-11: 4A01.10
 ICD-10: D81.0
 MeSH: C538361
 OMIM: 267500","PMID:20863163
 著者        Cosar H, Kahramaner Z, Erdemir A, Kanik A, Turkoglu E, Sutcuoglu S, Ozturk C, Atabay B, Arun Ozer E
 タイトル      Reticular dysgenesis in a preterm infant: a case report.
 雑誌        Pediatr Hematol Oncol 27:646-9 (2010)
 DOI:10.3109/08880018.2010.509424
 PMID:19043417
 著者        Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
 タイトル      Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
 雑誌        Nat Genet 41:101-5 (2009)
 DOI:10.1038/ng.265","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01128"">H01128</a>","細網異形成症
 上位グループ    T-B- 重症複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00092"">H00092</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2).",,"AK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:204"">204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00939"">K00939</a>]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538361"">C538361</a>
 OMIM: <a href=""https://www.omim.org/entry/267500"">267500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20863163"">20863163</a>
 著者        Cosar H, Kahramaner Z, Erdemir A, Kanik A, Turkoglu E, Sutcuoglu S, Ozturk C, Atabay B, Arun Ozer E
 タイトル      Reticular dysgenesis in a preterm infant: a case report.
 雑誌        Pediatr Hematol Oncol 27:646-9 (2010)
 DOI:<a href=""https://doi.org/10.3109/08880018.2010.509424"">10.3109/08880018.2010.509424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19043417"">19043417</a>
 著者        Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
 タイトル      Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
 雑誌        Nat Genet 41:101-5 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.265"">10.1038/ng.265</a>"
H01129,ブロディーミオパチー,,,"Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one of the SERCA Ca(2+)-ATPases, cause Brody myopathy.",神経系疾患; 筋骨格疾患,,ATP2A1 [HSA:487] [KO:K05853],,,,,,"ICD-11: 8C7Y
 ICD-10: G71.8
 MeSH: C536607
 OMIM: 601003","PMID:18786632
 著者        Drogemuller C, Drogemuller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R
 タイトル      Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
 雑誌        Genomics 92:474-7 (2008)
 DOI:10.1016/j.ygeno.2008.07.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01129"">H01129</a>",ブロディーミオパチー,"Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one of the SERCA Ca(2+)-ATPases, cause Brody myopathy.",,"ATP2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:487"">487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05853"">K05853</a>]",,,,,,"ICD-11: 8C7Y
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536607"">C536607</a>
 OMIM: <a href=""https://www.omim.org/entry/601003"">601003</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18786632"">18786632</a>
 著者        Drogemuller C, Drogemuller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R
 タイトル      Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
 雑誌        Genomics 92:474-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ygeno.2008.07.014"">10.1016/j.ygeno.2008.07.014</a>"
H01130,遅発性網膜変性,,,"Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.",神経系疾患,,C1QTNF5 [HSA:114902] [KO:K24212],,,,,,"ICD-11: 9B70
 ICD-10: H35.4
 MeSH: C565309
 OMIM: 605670","PMID:22277927
 著者        Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Heon E
 タイトル      The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
 雑誌        Retina 32:1643-51 (2012)
 DOI:10.1097/IAE.0b013e318240a574
 PMID:12944416
 著者        Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF
 タイトル      Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
 雑誌        Hum Mol Genet 12:2657-67 (2003)
 DOI:10.1093/hmg/ddg289
 PMID:11097607
 著者        Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG
 タイトル      Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
 雑誌        Ophthalmology 107:2256-66 (2000)
 DOI:10.1016/S0161-6420(00)00419-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01130"">H01130</a>",遅発性網膜変性,"Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.",,"C1QTNF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114902"">114902</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24212"">K24212</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565309"">C565309</a>
 OMIM: <a href=""https://www.omim.org/entry/605670"">605670</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22277927"">22277927</a>
 著者        Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Heon E
 タイトル      The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
 雑誌        Retina 32:1643-51 (2012)
 DOI:<a href=""https://doi.org/10.1097/IAE.0b013e318240a574"">10.1097/IAE.0b013e318240a574</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12944416"">12944416</a>
 著者        Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF
 タイトル      Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
 雑誌        Hum Mol Genet 12:2657-67 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg289"">10.1093/hmg/ddg289</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11097607"">11097607</a>
 著者        Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG
 タイトル      Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
 雑誌        Ophthalmology 107:2256-66 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0161-6420(00)00419-X"">10.1016/S0161-6420(00)00419-X</a>"
H01131,遺伝性神経痛性筋萎縮症,,,"Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.",神経系疾患,,SEPT9 [HSA:10801] [KO:K16938],,Infection or parturition,,,,"ICD-11: 8C20.Y
 ICD-10: G54.5
 MeSH: D020968
 OMIM: 162100","PMID:16186812
 著者        Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF
 タイトル      Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
 雑誌        Nat Genet 37:1044-6 (2005)
 DOI:10.1038/ng1649","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01131"">H01131</a>",遺伝性神経痛性筋萎縮症,"Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.",,"SEPT9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10801"">10801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16938"">K16938</a>]",,Infection or parturition,,,,"ICD-11: 8C20.Y
 ICD-10: G54.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020968"">D020968</a>
 OMIM: <a href=""https://www.omim.org/entry/162100"">162100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16186812"">16186812</a>
 著者        Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF
 タイトル      Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
 雑誌        Nat Genet 37:1044-6 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1649"">10.1038/ng1649</a>"
H01132,再生不良性貧血,,,"Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.",血液疾患,,"TERC [HSA:7012] [KO:K22183]
 TERT [HSA:7015] [KO:K11126]
 IFNG [HSA:3458] [KO:K04687]
 PRF1 [HSA:5551] [KO:K07818]
 SBDS [HSA:51119] [KO:K14574]
 NBN [HSA:4683] [KO:K10867]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シクロスポリン [DR:D00184]
 メテノロン酢酸エステル [DR:D01375]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 テストステロンエナント酸エステル [DR:D00958]
 葉酸 [DR:D00070]
 ロミプロスチム [DR:D08990]
 エルトロンボパグ オラミン [DR:D03978]
 シクロホスファミド水和物 [DR:D00287]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:D09190]",,"ICD-11: 3A70
 ICD-10: D61.0
 OMIM: 609135","PMID:20008219 (TERC, TERT)
 著者        Calado RT
 タイトル      Telomeres and marrow failure.
 雑誌        Hematology Am Soc Hematol Educ Program 338-43 (2009)
 DOI:10.1182/asheducation-2009.1.338
 PMID:20953611 (IFNG)
 著者        Lee YG, Kim I, Kim JH, Bae JY, Kwon JH, Shin DY, Lee JE, Song EY, Kim HK, Yoon SS, Park SS, Lee DS, Han KS, Park MH, Hong YC, Park S, Kim BK
 タイトル      Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
 雑誌        Ann Hematol 90:515-21 (2011)
 DOI:10.1007/s00277-010-1102-2
 PMID:17311987 (PRF1)
 著者        Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
 タイトル      Perforin gene mutations in patients with acquired aplastic anemia.
 雑誌        Blood 109:5234-7 (2007)
 DOI:10.1182/blood-2006-12-063495
 PMID:17478638 (SBDS)
 著者        Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
 タイトル      Mutations in the SBDS gene in acquired aplastic anemia.
 雑誌        Blood 110:1141-6 (2007)
 DOI:10.1182/blood-2007-03-080044
 PMID:15338273 (NBN)
 著者        Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M
 タイトル      First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
 雑誌        Hum Genet 115:372-6 (2004)
 DOI:10.1007/s00439-004-1155-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01132"">H01132</a>",再生不良性貧血,"Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.",,"TERC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7012"">7012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22183"">K22183</a>]
 TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 IFNG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3458"">3458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04687"">K04687</a>]
 PRF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5551"">5551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07818"">K07818</a>]
 SBDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51119"">51119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14574"">K14574</a>]
 NBN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4683"">4683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10867"">K10867</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 メテノロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01375"">D01375</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 テストステロンエナント酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00958"">D00958</a>]
 葉酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00070"">D00070</a>]
 ロミプロスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08990"">D08990</a>]
 エルトロンボパグ オラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03978"">D03978</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09190"">D09190</a>]",,"ICD-11: 3A70
 ICD-10: D61.0
 OMIM: <a href=""https://www.omim.org/entry/609135"">609135</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20008219"">20008219</a> (TERC, <a href=""https://pubmed.ncbi.nlm.nih.gov/TERT)"">TERT)</a>
 著者        Calado RT
 タイトル      Telomeres and marrow failure.
 雑誌        Hematology Am Soc Hematol Educ Program 338-43 (2009)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2009.1.338"">10.1182/asheducation-2009.1.338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20953611"">20953611</a> (IFNG)
 著者        Lee YG, Kim I, Kim JH, Bae JY, Kwon JH, Shin DY, Lee JE, Song EY, Kim HK, Yoon SS, Park SS, Lee DS, Han KS, Park MH, Hong YC, Park S, Kim BK
 タイトル      Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
 雑誌        Ann Hematol 90:515-21 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00277-010-1102-2"">10.1007/s00277-010-1102-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17311987"">17311987</a> (PRF1)
 著者        Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
 タイトル      Perforin gene mutations in patients with acquired aplastic anemia.
 雑誌        Blood 109:5234-7 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2006-12-063495"">10.1182/blood-2006-12-063495</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17478638"">17478638</a> (SBDS)
 著者        Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
 タイトル      Mutations in the SBDS gene in acquired aplastic anemia.
 雑誌        Blood 110:1141-6 (2007)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-03-080044"">10.1182/blood-2007-03-080044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15338273"">15338273</a> (NBN)
 著者        Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M
 タイトル      First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
 雑誌        Hum Genet 115:372-6 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00439-004-1155-1"">10.1007/s00439-004-1155-1</a>"
H01133,Reynolds 症候群,,,"Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.",皮膚疾患; 消化器系疾患,,LBR [HSA:3930] [KO:K19532],,,,,,"ICD-11: 4A43.Y
 ICD-10: K74.5 L94.0
 OMIM: 613471","PMID:20800400
 著者        Cabane J
 タイトル      Is Reynolds syndrome a genetic laminopathy?
 雑誌        Gastroenterol Clin Biol 34:509-10 (2010)
 DOI:10.1016/j.gcb.2010.07.008
 PMID:20522425
 著者        Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A
 タイトル      LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
 雑誌        J Med Genet 47:361-70 (2010)
 DOI:10.1136/jmg.2009.071696","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01133"">H01133</a>",Reynolds 症候群,"Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.",,"LBR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3930"">3930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19532"">K19532</a>]",,,,,,"ICD-11: 4A43.Y
 ICD-10: K74.5 L94.0
 OMIM: <a href=""https://www.omim.org/entry/613471"">613471</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20800400"">20800400</a>
 著者        Cabane J
 タイトル      Is Reynolds syndrome a genetic laminopathy?
 雑誌        Gastroenterol Clin Biol 34:509-10 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.gcb.2010.07.008"">10.1016/j.gcb.2010.07.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20522425"">20522425</a>
 著者        Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A
 タイトル      LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
 雑誌        J Med Genet 47:361-70 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.071696"">10.1136/jmg.2009.071696</a>"
H01134,Rhabdoid predisposition syndrome,,,"Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) in the central nervous system and malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also been identified.",がん,,"SMARCB1 [HSA:6598] [KO:K11648]
 SMARCA4 [HSA:6597] [KO:K11647]",,,,,,"MeSH: C563738 C567643
 OMIM: 609322 613325","PMID:21436099 (description, gene, marker)
 著者        Harris TJ, Donahue JE, Shur N, Tung GA
 タイトル      Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.
 雑誌        Radiology 259:298-302 (2011)
 DOI:10.1148/radiol.10092219
 PMID:20137775
 著者        Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R
 タイトル      Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
 雑誌        Am J Hum Genet 86:279-84 (2010)
 DOI:10.1016/j.ajhg.2010.01.013
 PMID:21208904
 著者        Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, Andre N, Stephan JL, Perel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Freneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O
 タイトル      Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.
 雑誌        Clin Cancer Res 17:31-8 (2011)
 DOI:10.1158/1078-0432.CCR-10-1795","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01134"">H01134</a>",Rhabdoid predisposition syndrome,"Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) in the central nervous system and malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also been identified.",,"SMARCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6598"">6598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11648"">K11648</a>]
 SMARCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6597"">6597</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11647"">K11647</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563738"">C563738</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567643"">C567643</a>
 OMIM: <a href=""https://www.omim.org/entry/609322"">609322</a> <a href=""https://www.omim.org/entry/613325"">613325</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21436099"">21436099</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Harris TJ, Donahue JE, Shur N, Tung GA
 タイトル      Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.
 雑誌        Radiology 259:298-302 (2011)
 DOI:<a href=""https://doi.org/10.1148/radiol.10092219"">10.1148/radiol.10092219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137775"">20137775</a>
 著者        Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R
 タイトル      Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
 雑誌        Am J Hum Genet 86:279-84 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.013"">10.1016/j.ajhg.2010.01.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21208904"">21208904</a>
 著者        Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, Andre N, Stephan JL, Perel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Freneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O
 タイトル      Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.
 雑誌        Clin Cancer Res 17:31-8 (2011)
 DOI:<a href=""https://doi.org/10.1158/1078-0432.CCR-10-1795"">10.1158/1078-0432.CCR-10-1795</a>"
H01135,リボース 5-リン酸イソメラーゼ欠損症,,,Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation.,先天性代謝異常症,,RPIA [HSA:22934] [KO:K01807],,,,,,"ICD-11: 5C51.0
 MeSH: C563212
 OMIM: 608611","PMID:20499043
 著者        Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M
 タイトル      The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
 雑誌        J Mol Med (Berl) 88:931-9 (2010)
 DOI:10.1007/s00109-010-0634-1
 PMID:14988808
 著者        Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS
 タイトル      Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
 雑誌        Am J Hum Genet 74:745-51 (2004)
 DOI:10.1086/383204","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01135"">H01135</a>",リボース 5-リン酸イソメラーゼ欠損症,Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation.,,"RPIA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22934"">22934</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01807"">K01807</a>]",,,,,,"ICD-11: 5C51.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563212"">C563212</a>
 OMIM: <a href=""https://www.omim.org/entry/608611"">608611</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20499043"">20499043</a>
 著者        Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M
 タイトル      The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
 雑誌        J Mol Med (Berl) 88:931-9 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00109-010-0634-1"">10.1007/s00109-010-0634-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14988808"">14988808</a>
 著者        Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS
 タイトル      Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
 雑誌        Am J Hum Genet 74:745-51 (2004)
 DOI:<a href=""https://doi.org/10.1086/383204"">10.1086/383204</a>"
H01136,カルボキシペプチダーゼN 欠損症,,,"Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although deficiency of CPN produces a severe allergic syndrome, there are no reported cases of complete deficiency of CPN in humans. There are a few documented cases of partial CPN deficiency. Patients present some combination of angioedema or chronic urticaria, as well as hay fever or asthma. It has been reported that mutations in CPN1, which encodes the catalytic subunit of CPN, cause CPN deficiency.",,,CPN1 [HSA:1369] [KO:K01292],,,,,,"ICD-11: 4A00.1Y
 ICD-10: D84.1
 MeSH: C562876
 OMIM: 212070","PMID:19414808
 著者        Mueller-Ortiz SL, Wang D, Morales JE, Li L, Chang JY, Wetsel RA
 タイトル      Targeted disruption of the gene encoding the murine small subunit of carboxypeptidase N (CPN1) causes susceptibility to C5a anaphylatoxin-mediated shock.
 雑誌        J Immunol 182:6533-9 (2009)
 DOI:10.4049/jimmunol.0804207
 PMID:12560874
 著者        Cao H, Hegele RA
 タイトル      DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.
 雑誌        J Hum Genet 48:20-2 (2003)
 DOI:10.1007/s100380300003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01136"">H01136</a>",カルボキシペプチダーゼN 欠損症,"Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although deficiency of CPN produces a severe allergic syndrome, there are no reported cases of complete deficiency of CPN in humans. There are a few documented cases of partial CPN deficiency. Patients present some combination of angioedema or chronic urticaria, as well as hay fever or asthma. It has been reported that mutations in CPN1, which encodes the catalytic subunit of CPN, cause CPN deficiency.",,"CPN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1369"">1369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01292"">K01292</a>]",,,,,,"ICD-11: 4A00.1Y
 ICD-10: D84.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562876"">C562876</a>
 OMIM: <a href=""https://www.omim.org/entry/212070"">212070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19414808"">19414808</a>
 著者        Mueller-Ortiz SL, Wang D, Morales JE, Li L, Chang JY, Wetsel RA
 タイトル      Targeted disruption of the gene encoding the murine small subunit of carboxypeptidase N (CPN1) causes susceptibility to C5a anaphylatoxin-mediated shock.
 雑誌        J Immunol 182:6533-9 (2009)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.0804207"">10.4049/jimmunol.0804207</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12560874"">12560874</a>
 著者        Cao H, Hegele RA
 タイトル      DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.
 雑誌        J Hum Genet 48:20-2 (2003)
 DOI:<a href=""https://doi.org/10.1007/s100380300003"">10.1007/s100380300003</a>"
H01137,Baylisascariasis,,,"Baylisascariasis is a parasitic infection caused by Baylisascaris procyonis, a large nematodes of the order Ascaridida. The full clinical spectrum of human baylisascariasis includes visceral larva migrans, neural larva migrans, and ocular larva migrans. Neural larva migrans can lead to severe neurologic disease such as eosinophilic meningoencephalitis in humans.",感染症,,,Baylisascaris procyonis,,,,Definitive host: North American raccoon (Procyon lotor),,"PMID:16223954
 著者        Gavin PJ, Kazacos KR, Shulman ST
 タイトル      Baylisascariasis.
 雑誌        Clin Microbiol Rev 18:703-18 (2005)
 DOI:10.1128/CMR.18.4.703-718.2005
 PMID:15715975
 著者        Wise ME, Sorvillo FJ, Shafir SC, Ash LR, Berlin OG
 タイトル      Severe and fatal central nervous system disease in humans caused by Baylisascaris procyonis, the common roundworm of raccoons: a review of current literature.
 雑誌        Microbes Infect 7:317-23 (2005)
 DOI:10.1016/j.micinf.2004.12.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01137"">H01137</a>",Baylisascariasis,"Baylisascariasis is a parasitic infection caused by Baylisascaris procyonis, a large nematodes of the order Ascaridida. The full clinical spectrum of human baylisascariasis includes visceral larva migrans, neural larva migrans, and ocular larva migrans. Neural larva migrans can lead to severe neurologic disease such as eosinophilic meningoencephalitis in humans.",,,Baylisascaris procyonis,,,,Definitive host: North American raccoon (Procyon lotor),,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16223954"">16223954</a>
 著者        Gavin PJ, Kazacos KR, Shulman ST
 タイトル      Baylisascariasis.
 雑誌        Clin Microbiol Rev 18:703-18 (2005)
 DOI:<a href=""https://doi.org/10.1128/CMR.18.4.703-718.2005"">10.1128/CMR.18.4.703-718.2005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15715975"">15715975</a>
 著者        Wise ME, Sorvillo FJ, Shafir SC, Ash LR, Berlin OG
 タイトル      Severe and fatal central nervous system disease in humans caused by Baylisascaris procyonis, the common roundworm of raccoons: a review of current literature.
 雑誌        Microbes Infect 7:317-23 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2004.12.005"">10.1016/j.micinf.2004.12.005</a>"
H01138,膜様条虫症,,,"Hymenolepiasis is an infection caused by two species of tapeworm, Hymenolepis nana and H. diminuta, that are common in tropical and subtropical climates. H. nana mostly causes human infections, the source of which is contaminated food and fecal exposure.",感染症,,,"Hymenolepsis nana
 Hymenolepis diminuta",,,,,"ICD-11: 1F74
 ICD-10: B71.0
 MeSH: D006925","PMID:32775295
 著者        Singh C, Sharma B, Aneja A, Lal SB, Khurana S
 タイトル      Coinfection with Hymenolepis nana and Hymenolepis diminuta infection in a child from North India: A rare case report.
 雑誌        Trop Parasitol 10:56-58 (2020)
 DOI:10.4103/tp.TP_47_19
 PMID:15266234
 著者        Wiwanitkit V
 タイトル      Overview of hymenolepis diminuta infection among Thai patients.
 雑誌        MedGenMed 6:7 (2004)
 PMID:9394191
 著者        Ito A
 タイトル      Basic and applied immunology in cestode infections: from Hymenolepis to Taenia and Echinococcus.
 雑誌        Int J Parasitol 27:1203-11 (1997)
 DOI:10.1016/S0020-7519(97)00118-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01138"">H01138</a>",膜様条虫症,"Hymenolepiasis is an infection caused by two species of tapeworm, Hymenolepis nana and H. diminuta, that are common in tropical and subtropical climates. H. nana mostly causes human infections, the source of which is contaminated food and fecal exposure.",,,"Hymenolepsis nana
 Hymenolepis diminuta",,,,,"ICD-11: 1F74
 ICD-10: B71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006925"">D006925</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32775295"">32775295</a>
 著者        Singh C, Sharma B, Aneja A, Lal SB, Khurana S
 タイトル      Coinfection with Hymenolepis nana and Hymenolepis diminuta infection in a child from North India: A rare case report.
 雑誌        Trop Parasitol 10:56-58 (2020)
 DOI:<a href=""https://doi.org/10.4103/tp.TP_47_19"">10.4103/tp.TP_47_19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15266234"">15266234</a>
 著者        Wiwanitkit V
 タイトル      Overview of hymenolepis diminuta infection among Thai patients.
 雑誌        MedGenMed 6:7 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9394191"">9394191</a>
 著者        Ito A
 タイトル      Basic and applied immunology in cestode infections: from Hymenolepis to Taenia and Echinococcus.
 雑誌        Int J Parasitol 27:1203-11 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0020-7519(97)00118-5"">10.1016/S0020-7519(97)00118-5</a>"
H01139,ヒト顆粒球アナプラズマ症,,,"Human granulocytic anaplasmosis (HGA), previously known as human granulocytic ehrlichiosis (HGE), is a tick-borne infection caused by Anaplasma phagocytophilum. It results in symptoms ranging from mild febrile illness to severe disease characterized by an acute, influenza-like illness in older individuals and immunocompromised patients.",感染症,,,Anaplasma phagocytophilum [GN:aph],,,,Vector: Ixodes persulcatus,MeSH: D000712,"PMID:22321996
 著者        Koebel C, Kern A, Edouard S, Hoang AT, Celestin N, Hansmann Y, Jaulhac B, Brouqui P, De Martino SJ
 タイトル      Human granulocytic anaplasmosis in eastern France: clinical presentation and laboratory diagnosis.
 雑誌        Diagn Microbiol Infect Dis 72:214-8 (2012)
 DOI:10.1016/j.diagmicrobio.2011.12.005
 PMID:17114714
 著者        Bakken JS, Dumler JS
 タイトル      Clinical diagnosis and treatment of human granulocytotropic anaplasmosis.
 雑誌        Ann N Y Acad Sci 1078:236-47 (2006)
 DOI:10.1196/annals.1374.042","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01139"">H01139</a>",ヒト顆粒球アナプラズマ症,"Human granulocytic anaplasmosis (HGA), previously known as human granulocytic ehrlichiosis (HGE), is a tick-borne infection caused by Anaplasma phagocytophilum. It results in symptoms ranging from mild febrile illness to severe disease characterized by an acute, influenza-like illness in older individuals and immunocompromised patients.",,,"Anaplasma phagocytophilum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aph"">aph</a>]",,,,Vector: Ixodes persulcatus,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000712"">D000712</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22321996"">22321996</a>
 著者        Koebel C, Kern A, Edouard S, Hoang AT, Celestin N, Hansmann Y, Jaulhac B, Brouqui P, De Martino SJ
 タイトル      Human granulocytic anaplasmosis in eastern France: clinical presentation and laboratory diagnosis.
 雑誌        Diagn Microbiol Infect Dis 72:214-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.diagmicrobio.2011.12.005"">10.1016/j.diagmicrobio.2011.12.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17114714"">17114714</a>
 著者        Bakken JS, Dumler JS
 タイトル      Clinical diagnosis and treatment of human granulocytotropic anaplasmosis.
 雑誌        Ann N Y Acad Sci 1078:236-47 (2006)
 DOI:<a href=""https://doi.org/10.1196/annals.1374.042"">10.1196/annals.1374.042</a>"
H01140,腺熱リケッチア症,,,"Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish in tropical Asia. Patients with sennetsu neorickettsiosis experience acute febrile disease, malaise, myalgias, pharyngitis, anorexia, generalized lymphadenopathy, and peripheral blood mononucleosis.",感染症,,,Neorickettsia sennetsu [GN:nse],,,,,"ICD-11: 1C3Y
 ICD-10: A79.8
 MeSH: C537582","PMID:19635866
 著者        Walker DH
 タイトル      Sennetsu neorickettsiosis: a potentially prevalent, treatable, acutely incapacitating tropical infectious disease.
 雑誌        Am J Trop Med Hyg 81:187-8 (2009)
 DOI:10.4269/ajtmh.2009.81.187
 PMID:19635868
 著者        Newton PN, Rolain JM, Rasachak B, Mayxay M, Vathanatham K, Seng P, Phetsouvanh R, Thammavong T, Zahidi J, Suputtamongkol Y, Syhavong B, Raoult D
 タイトル      Sennetsu neorickettsiosis: a probable fish-borne cause of fever rediscovered in Laos.
 雑誌        Am J Trop Med Hyg 81:190-4 (2009)
 DOI:10.4269/ajtmh.2009.81.190","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01140"">H01140</a>",腺熱リケッチア症,"Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish in tropical Asia. Patients with sennetsu neorickettsiosis experience acute febrile disease, malaise, myalgias, pharyngitis, anorexia, generalized lymphadenopathy, and peripheral blood mononucleosis.",,,"Neorickettsia sennetsu [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nse"">nse</a>]",,,,,"ICD-11: 1C3Y
 ICD-10: A79.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537582"">C537582</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19635866"">19635866</a>
 著者        Walker DH
 タイトル      Sennetsu neorickettsiosis: a potentially prevalent, treatable, acutely incapacitating tropical infectious disease.
 雑誌        Am J Trop Med Hyg 81:187-8 (2009)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2009.81.187"">10.4269/ajtmh.2009.81.187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19635868"">19635868</a>
 著者        Newton PN, Rolain JM, Rasachak B, Mayxay M, Vathanatham K, Seng P, Phetsouvanh R, Thammavong T, Zahidi J, Suputtamongkol Y, Syhavong B, Raoult D
 タイトル      Sennetsu neorickettsiosis: a probable fish-borne cause of fever rediscovered in Laos.
 雑誌        Am J Trop Med Hyg 81:190-4 (2009)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2009.81.190"">10.4269/ajtmh.2009.81.190</a>"
H01141,Human monocytic ehrlichiosis,,,"Human monocytic ehrlichiosis is a tick-borne infectious disease caused by Ehrlichia chaffeensis that infects mononuclear phagocytic cells. The bacterium is maintained in nature involving many vertebrate species such as deer that serve as competent reservoirs for the bacterium and as sources of blood for tick vectors. Patients experience fever, malaise, low-back pain, or gastrointestinal symptoms.",感染症,,,Ehrlichia chaffeensis [GN:ech],,,,Vector: Tick (Amblyomma americanum),MeSH: D016873,"PMID:19248653
 著者        Ganguly S, Mukhopadhayay SK
 タイトル      Tick-borne ehrlichiosis infection in human beings.
 雑誌        J Vector Borne Dis 45:273-80 (2008)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01141"">H01141</a>",Human monocytic ehrlichiosis,"Human monocytic ehrlichiosis is a tick-borne infectious disease caused by Ehrlichia chaffeensis that infects mononuclear phagocytic cells. The bacterium is maintained in nature involving many vertebrate species such as deer that serve as competent reservoirs for the bacterium and as sources of blood for tick vectors. Patients experience fever, malaise, low-back pain, or gastrointestinal symptoms.",,,"Ehrlichia chaffeensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ech"">ech</a>]",,,,Vector: Tick (Amblyomma americanum),"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016873"">D016873</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19248653"">19248653</a>
 著者        Ganguly S, Mukhopadhayay SK
 タイトル      Tick-borne ehrlichiosis infection in human beings.
 雑誌        J Vector Borne Dis 45:273-80 (2008)"
H01142,Ehrlichia ewingii 感染,,,Human ehrlichiosis is a recently recognized tick-borne infection. Ehrlichia ewingii has been identified as a cause of human disease in addition to formerly known pathogenic Ehrlichia species.,感染症,,,Ehrlichia ewingii,,,,"Other diseases caused by Ehrlichia species include: Human granulocytic anaplasmosis (H01139), Sennetsu neorickettsiosis (H01140), and Human monocytic ehrlichiosis (H01141).",MeSH: D016873,"PMID:10403852
 著者        Buller RS, Arens M, Hmiel SP, Paddock CD, Sumner JW, Rikhisa Y, Unver A, Gaudreault-Keener M, Manian FA, Liddell AM, Schmulewitz N, Storch GA
 タイトル      Ehrlichia ewingii, a newly recognized agent of human ehrlichiosis.
 雑誌        N Engl J Med 341:148-55 (1999)
 DOI:10.1056/NEJM199907153410303","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01142"">H01142</a>",Ehrlichia ewingii 感染,Human ehrlichiosis is a recently recognized tick-borne infection. Ehrlichia ewingii has been identified as a cause of human disease in addition to formerly known pathogenic Ehrlichia species.,,,Ehrlichia ewingii,,,,"Other diseases caused by Ehrlichia species include: Human granulocytic anaplasmosis (H01139), Sennetsu neorickettsiosis (H01140), and Human monocytic ehrlichiosis (H01141).","MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016873"">D016873</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10403852"">10403852</a>
 著者        Buller RS, Arens M, Hmiel SP, Paddock CD, Sumner JW, Rikhisa Y, Unver A, Gaudreault-Keener M, Manian FA, Liddell AM, Schmulewitz N, Storch GA
 タイトル      Ehrlichia ewingii, a newly recognized agent of human ehrlichiosis.
 雑誌        N Engl J Med 341:148-55 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199907153410303"">10.1056/NEJM199907153410303</a>"
H01143,ビタミンD依存性くる病,,,"Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.",先天性代謝異常症,,"(VDDR1A) CYP27B1 [HSA:1594] [KO:K07438]
 (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419]
 (VDDR2A) VDR [HSA:7421] [KO:K08539]
 (VDDR3) CYP3A4 [HSA:1576] [KO:K17689]",,,,,,"ICD-11: 5B57.0
 ICD-10: E55.0
 MeSH: C562688 C564005 C562794
 OMIM: 264700 277440 600081 619073","PMID:16939184
 著者        Nield LS, Mahajan P, Joshi A, Kamat D
 タイトル      Rickets: not a disease of the past.
 雑誌        Am Fam Physician 74:619-26 (2006)
 PMID:20511055
 著者        Malloy PJ, Feldman D
 タイトル      Genetic disorders and defects in vitamin d action.
 雑誌        Endocrinol Metab Clin North Am 39:333-46, table of contents (2010)
 DOI:10.1016/j.ecl.2010.02.004
 PMID:15972816 (CYP27B1)
 著者        Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S
 タイトル      Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.
 雑誌        J Biol Chem 280:30511-6 (2005)
 DOI:10.1074/jbc.M505244200
 PMID:15128933 (CYP2R1)
 著者        Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW
 タイトル      Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
 雑誌        Proc Natl Acad Sci U S A 101:7711-5 (2004)
 DOI:10.1073/pnas.0402490101
 PMID:17970811 (VDR)
 著者        Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA
 タイトル      A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
 雑誌        Br J Dermatol 158:168-71 (2008)
 DOI:10.1111/j.1365-2133.2007.08232.x
 PMID:29461981 (CYP3A4)
 著者        Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA
 タイトル      CYP3A4 mutation causes vitamin D-dependent rickets type 3.
 雑誌        J Clin Invest 128:1913-1918 (2018)
 DOI:10.1172/JCI98680","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01143"">H01143</a>",ビタミンD依存性くる病,"Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.",,"(VDDR1A) CYP27B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1594"">1594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07438"">K07438</a>]
 (VDDR1B) CYP2R1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120227"">120227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07419"">K07419</a>]
 (VDDR2A) VDR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7421"">7421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08539"">K08539</a>]
 (VDDR3) CYP3A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1576"">1576</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17689"">K17689</a>]",,,,,,"ICD-11: 5B57.0
 ICD-10: E55.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562688"">C562688</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564005"">C564005</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562794"">C562794</a>
 OMIM: <a href=""https://www.omim.org/entry/264700"">264700</a> <a href=""https://www.omim.org/entry/277440"">277440</a> <a href=""https://www.omim.org/entry/600081"">600081</a> <a href=""https://www.omim.org/entry/619073"">619073</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16939184"">16939184</a>
 著者        Nield LS, Mahajan P, Joshi A, Kamat D
 タイトル      Rickets: not a disease of the past.
 雑誌        Am Fam Physician 74:619-26 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20511055"">20511055</a>
 著者        Malloy PJ, Feldman D
 タイトル      Genetic disorders and defects in vitamin d action.
 雑誌        Endocrinol Metab Clin North Am 39:333-46, table of contents (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ecl.2010.02.004"">10.1016/j.ecl.2010.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15972816"">15972816</a> (CYP27B1)
 著者        Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S
 タイトル      Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.
 雑誌        J Biol Chem 280:30511-6 (2005)
 DOI:<a href=""https://doi.org/10.1074/jbc.M505244200"">10.1074/jbc.M505244200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15128933"">15128933</a> (CYP2R1)
 著者        Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW
 タイトル      Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
 雑誌        Proc Natl Acad Sci U S A 101:7711-5 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0402490101"">10.1073/pnas.0402490101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17970811"">17970811</a> (VDR)
 著者        Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA
 タイトル      A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
 雑誌        Br J Dermatol 158:168-71 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2007.08232.x"">10.1111/j.1365-2133.2007.08232.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29461981"">29461981</a> (CYP3A4)
 著者        Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA
 タイトル      CYP3A4 mutation causes vitamin D-dependent rickets type 3.
 雑誌        J Clin Invest 128:1913-1918 (2018)
 DOI:<a href=""https://doi.org/10.1172/JCI98680"">10.1172/JCI98680</a>"
H01144,Ochrobactrum anthropi 感染,,,"Ochrobactrum anthropi is an ubiquitous oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream infection in patients on hemodialysis.",感染症,,,Ochrobactrum anthropi [GN:oan oah],,,,"The pathogen usually displays resistance to commonly used broad-spectrum antimicrobial agents, including penicillins and cephalosporins.",,"PMID:12324938
 著者        Daxboeck F, Zitta S, Assadian O, Krause R, Wenisch C, Kovarik J
 タイトル      Ochrobactrum anthropi bloodstream infection complicating hemodialysis.
 雑誌        Am J Kidney Dis 40:E17 (2002)
 DOI:10.1053/ajkd.2002.35759
 PMID:22099546
 著者        Shrishrimal K
 タイトル      Recurrent Ochrobactrum anthropi and Shewanella putrefaciens bloodstream infection complicating hemodialysis.
 雑誌        Hemodial Int 16:113-5 (2012)
 DOI:10.1111/j.1542-4758.2011.00586.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01144"">H01144</a>",Ochrobactrum anthropi 感染,"Ochrobactrum anthropi is an ubiquitous oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream infection in patients on hemodialysis.",,,"Ochrobactrum anthropi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:oan"">oan</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:oah"">oah</a>]",,,,"The pathogen usually displays resistance to commonly used broad-spectrum antimicrobial agents, including penicillins and cephalosporins.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12324938"">12324938</a>
 著者        Daxboeck F, Zitta S, Assadian O, Krause R, Wenisch C, Kovarik J
 タイトル      Ochrobactrum anthropi bloodstream infection complicating hemodialysis.
 雑誌        Am J Kidney Dis 40:E17 (2002)
 DOI:<a href=""https://doi.org/10.1053/ajkd.2002.35759"">10.1053/ajkd.2002.35759</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22099546"">22099546</a>
 著者        Shrishrimal K
 タイトル      Recurrent Ochrobactrum anthropi and Shewanella putrefaciens bloodstream infection complicating hemodialysis.
 雑誌        Hemodial Int 16:113-5 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1542-4758.2011.00586.x"">10.1111/j.1542-4758.2011.00586.x</a>"
H01145,無トランスフェリン血症,,,Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported.,循環器系疾患,,TF [HSA:7018] [KO:K14736],,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: 209300","PMID:11110675
 著者        Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
 タイトル      Molecular characterization of a case of atransferrinemia.
 雑誌        Blood 96:4071-4 (2000)
 PMID:18097132
 著者        Aslan D, Crain K, Beutler E
 タイトル      A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.
 雑誌        Acta Haematol 118:244-7 (2007)
 DOI:10.1159/000112726","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01145"">H01145</a>",無トランスフェリン血症,Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported.,,"TF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7018"">7018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14736"">K14736</a>]",,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: <a href=""https://www.omim.org/entry/209300"">209300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11110675"">11110675</a>
 著者        Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
 タイトル      Molecular characterization of a case of atransferrinemia.
 雑誌        Blood 96:4071-4 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18097132"">18097132</a>
 著者        Aslan D, Crain K, Beutler E
 タイトル      A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.
 雑誌        Acta Haematol 118:244-7 (2007)
 DOI:<a href=""https://doi.org/10.1159/000112726"">10.1159/000112726</a>"
H01146,アミノアシラーゼ1欠損症,,,"Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported.",先天性代謝異常症,,ACY1 [HSA:95] [KO:K14677],,,,,"Aminoacylase 2, also known as aspartoacylase (ASPA) hydrolyzes specifically N-acetyl-L-aspartate. ASPA deficiency causes spongy degeneration of the brain known as Canavan disease [DS:H00074]","ICD-11: 5C50.E1
 MeSH: C538246
 OMIM: 609924","PMID:21414403
 著者        Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO
 タイトル      The molecular basis of aminoacylase 1 deficiency.
 雑誌        Biochim Biophys Acta 1812:685-90 (2011)
 DOI:10.1016/j.bbadis.2011.03.005
 PMID:16465618
 著者        Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H
 タイトル      Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
 雑誌        Am J Hum Genet 78:401-9 (2006)
 DOI:10.1086/500563","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01146"">H01146</a>",アミノアシラーゼ1欠損症,"Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported.",,"ACY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:95"">95</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14677"">K14677</a>]",,,,,"Aminoacylase 2, also known as aspartoacylase (ASPA) hydrolyzes specifically N-acetyl-L-aspartate. ASPA deficiency causes spongy degeneration of the brain known as Canavan disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00074"">H00074</a>]","ICD-11: 5C50.E1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538246"">C538246</a>
 OMIM: <a href=""https://www.omim.org/entry/609924"">609924</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21414403"">21414403</a>
 著者        Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO
 タイトル      The molecular basis of aminoacylase 1 deficiency.
 雑誌        Biochim Biophys Acta 1812:685-90 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2011.03.005"">10.1016/j.bbadis.2011.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16465618"">16465618</a>
 著者        Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H
 タイトル      Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
 雑誌        Am J Hum Genet 78:401-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/500563"">10.1086/500563</a>"
H01147,Methylobacterium 感染,,,"Methylobacterium species are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both immunocompromised and immunocompetent patients.",感染症,,,"Methylobacterium radiotolerans
 Methylobacterium thiocyanatum
 Methylobacterium aminovorans
 Methylobacterium lusitanum",,,,,,"PMID:21734032
 著者        Lai CC, Cheng A, Liu WL, Tan CK, Huang YT, Chung KP, Lee MR, Hsueh PR
 タイトル      Infections caused by unusual Methylobacterium species.
 雑誌        J Clin Microbiol 49:3329-31 (2011)
 DOI:10.1128/JCM.01241-11
 PMID:1600002
 著者        Kaye KM, Macone A, Kazanjian PH
 タイトル      Catheter infection caused by Methylobacterium in immunocompromised hosts: report of three cases and review of the literature.
 雑誌        Clin Infect Dis 14:1010-4 (1992)
 DOI:10.1093/clinids/14.5.1010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01147"">H01147</a>",Methylobacterium 感染,"Methylobacterium species are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both immunocompromised and immunocompetent patients.",,,"Methylobacterium radiotolerans
 Methylobacterium thiocyanatum
 Methylobacterium aminovorans
 Methylobacterium lusitanum",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21734032"">21734032</a>
 著者        Lai CC, Cheng A, Liu WL, Tan CK, Huang YT, Chung KP, Lee MR, Hsueh PR
 タイトル      Infections caused by unusual Methylobacterium species.
 雑誌        J Clin Microbiol 49:3329-31 (2011)
 DOI:<a href=""https://doi.org/10.1128/JCM.01241-11"">10.1128/JCM.01241-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1600002"">1600002</a>
 著者        Kaye KM, Macone A, Kazanjian PH
 タイトル      Catheter infection caused by Methylobacterium in immunocompromised hosts: report of three cases and review of the literature.
 雑誌        Clin Infect Dis 14:1010-4 (1992)
 DOI:<a href=""https://doi.org/10.1093/clinids/14.5.1010"">10.1093/clinids/14.5.1010</a>"
H01148,Caulobacter 感染,,,"The genus Caulobacter is a gram-negative bacteria characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing intermittent peritoneal dialysis.",感染症,,,Caulobacter sp.,,,,"The isolate in the first report was found to be sensitive to meropenem, imipenem, erythromycin (disk only), aminoglycosides, tetracycline, chloramphenicol, and sulfadiazine.",,"PMID:17267638
 著者        Justesen US, Holt HM, Thiesson HC, Blom J, Nielsen XC, Dargis R, Kemp M, Christensen JJ
 タイトル      Report of the first human case of Caulobacter sp. infection.
 雑誌        J Clin Microbiol 45:1366-9 (2007)
 DOI:10.1128/JCM.02380-06","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01148"">H01148</a>",Caulobacter 感染,"The genus Caulobacter is a gram-negative bacteria characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing intermittent peritoneal dialysis.",,,Caulobacter sp.,,,,"The isolate in the first report was found to be sensitive to meropenem, imipenem, erythromycin (disk only), aminoglycosides, tetracycline, chloramphenicol, and sulfadiazine.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17267638"">17267638</a>
 著者        Justesen US, Holt HM, Thiesson HC, Blom J, Nielsen XC, Dargis R, Kemp M, Christensen JJ
 タイトル      Report of the first human case of Caulobacter sp. infection.
 雑誌        J Clin Microbiol 45:1366-9 (2007)
 DOI:<a href=""https://doi.org/10.1128/JCM.02380-06"">10.1128/JCM.02380-06</a>"
H01149,角膜輪状類皮,,,"The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.",神経系疾患,,PITX2 [HSA:5308] [KO:K04686],,,,,,"ICD-11: 2F36.Y
 ICD-10: D31.1
 MeSH: C535684
 OMIM: 180550","PMID:15591271
 著者        Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J
 タイトル      Mutation in PITX2 is associated with ring dermoid of the cornea.
 雑誌        J Med Genet 41:e129 (2004)
 DOI:10.1136/jmg.2004.022434
 PMID:22224469
 著者        Doerdelmann T, Kojetin DJ, Baird-Titus JM, Solt LA, Burris TP, Rance M
 タイトル      Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.
 雑誌        Biochemistry 51:665-76 (2012)
 DOI:10.1021/bi201639x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01149"">H01149</a>",角膜輪状類皮,"The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.",,"PITX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5308"">5308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04686"">K04686</a>]",,,,,,"ICD-11: 2F36.Y
 ICD-10: D31.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535684"">C535684</a>
 OMIM: <a href=""https://www.omim.org/entry/180550"">180550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15591271"">15591271</a>
 著者        Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J
 タイトル      Mutation in PITX2 is associated with ring dermoid of the cornea.
 雑誌        J Med Genet 41:e129 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.022434"">10.1136/jmg.2004.022434</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22224469"">22224469</a>
 著者        Doerdelmann T, Kojetin DJ, Baird-Titus JM, Solt LA, Burris TP, Rance M
 タイトル      Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.
 雑誌        Biochemistry 51:665-76 (2012)
 DOI:<a href=""https://doi.org/10.1021/bi201639x"">10.1021/bi201639x</a>"
H01150,Phenylobacterium 感染,,,Phenylobacterium is a gram-negative rod bacterium. The first case of cutaneous infectious granuloma caused by this bacterium was reported in 2010.,感染症,,,Phenylobacterium,,,,,,"PMID:20394459
 著者        Zhu XH, Li F, Xu JH, Xiang LH, Kang KF
 タイトル      Cutaneous infectious granuloma caused by Phenylobacterium in an adult with myelodysplastic syndrome: a first case report.
 雑誌        Am J Clin Dermatol 11:363-6 (2010)
 DOI:10.2165/11533200-000000000-00000","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01150"">H01150</a>",Phenylobacterium 感染,Phenylobacterium is a gram-negative rod bacterium. The first case of cutaneous infectious granuloma caused by this bacterium was reported in 2010.,,,Phenylobacterium,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20394459"">20394459</a>
 著者        Zhu XH, Li F, Xu JH, Xiang LH, Kang KF
 タイトル      Cutaneous infectious granuloma caused by Phenylobacterium in an adult with myelodysplastic syndrome: a first case report.
 雑誌        Am J Clin Dermatol 11:363-6 (2010)
 DOI:<a href=""https://doi.org/10.2165/11533200-000000000-00000"">10.2165/11533200-000000000-00000</a>"
H01151,Brevundimonas 感染,,,Brevundimonas species are aerobic non-fermenting gram-negative bacilli. They are infrequently isolated from clinical samples and can cause opportunistic infections in patients with underlying diseases.,感染症,,,"Brevundimonas vesicularis
 Brevundimonas diminuta
 Brevundimonas vancanneytii",,,,,,"PMID:15000562
 著者        Chi CY, Fung CP, Wong WW, Liu CY
 タイトル      Brevundimonas bacteremia: two case reports and literature review.
 雑誌        Scand J Infect Dis 36:59-61 (2004)
 DOI:10.1080/00365540310018879
 PMID:19880635
 著者        Estrela AB, Abraham WR
 タイトル      Brevundimonas vancanneytii sp. nov., isolated from blood of a patient with endocarditis.
 雑誌        Int J Syst Evol Microbiol 60:2129-34 (2010)
 DOI:10.1099/ijs.0.015651-0
 PMID:20152619
 著者        Pelletier JS, Ide T, Yoo SH
 タイトル      Brevundimonas vesicularis keratitis after laser in situ keratomileusis.
 雑誌        J Cataract Refract Surg 36:340-3 (2010)
 DOI:10.1016/j.jcrs.2009.07.050
 PMID:29484917
 著者        Ryan MP, Pembroke JT
 タイトル      Brevundimonas spp: Emerging global opportunistic pathogens.
 雑誌        Virulence 9:480-493 (2018)
 DOI:10.1080/21505594.2017.1419116","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01151"">H01151</a>",Brevundimonas 感染,Brevundimonas species are aerobic non-fermenting gram-negative bacilli. They are infrequently isolated from clinical samples and can cause opportunistic infections in patients with underlying diseases.,,,"Brevundimonas vesicularis
 Brevundimonas diminuta
 Brevundimonas vancanneytii",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15000562"">15000562</a>
 著者        Chi CY, Fung CP, Wong WW, Liu CY
 タイトル      Brevundimonas bacteremia: two case reports and literature review.
 雑誌        Scand J Infect Dis 36:59-61 (2004)
 DOI:<a href=""https://doi.org/10.1080/00365540310018879"">10.1080/00365540310018879</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19880635"">19880635</a>
 著者        Estrela AB, Abraham WR
 タイトル      Brevundimonas vancanneytii sp. nov., isolated from blood of a patient with endocarditis.
 雑誌        Int J Syst Evol Microbiol 60:2129-34 (2010)
 DOI:<a href=""https://doi.org/10.1099/ijs.0.015651-0"">10.1099/ijs.0.015651-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20152619"">20152619</a>
 著者        Pelletier JS, Ide T, Yoo SH
 タイトル      Brevundimonas vesicularis keratitis after laser in situ keratomileusis.
 雑誌        J Cataract Refract Surg 36:340-3 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jcrs.2009.07.050"">10.1016/j.jcrs.2009.07.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29484917"">29484917</a>
 著者        Ryan MP, Pembroke JT
 タイトル      Brevundimonas spp: Emerging global opportunistic pathogens.
 雑誌        Virulence 9:480-493 (2018)
 DOI:<a href=""https://doi.org/10.1080/21505594.2017.1419116"">10.1080/21505594.2017.1419116</a>"
H01152,Taenia saginata 感染,,,"Taenia saginata (beef tapeworm) infection, which causes chronic abdominal pain or persistent diarrhea, is caused by the ingestion of the larval stage of cysticerci in beef. T. saginata is distributed worldwide but has the highest prevalence in Southern and Eastern Africa.",感染症,,,Taenia saginata,,,,,"ICD-11: 1F76.1
 ICD-10: B68.1
 MeSH: D013622","PMID:20701576
 著者        Silva CV, Costa-Cruz JM
 タイトル      A glance at Taenia saginata infection, diagnosis, vaccine, biological control and treatment.
 雑誌        Infect Disord Drug Targets 10:313-21 (2010)
 DOI:10.2174/187152610793180894
 PMID:22246486
 著者        Hirasaki S, Murakami K, Mizushima T, Hiramatsu K, Hanayama Y, Kanamori T, Koide N
 タイトル      Long-term Taenia saginata infection successfully treated with meglumine/diatrizoate sodium.
 雑誌        Intern Med 51:177-9 (2012)
 DOI:10.2169/internalmedicine.51.6499","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01152"">H01152</a>",Taenia saginata 感染,"Taenia saginata (beef tapeworm) infection, which causes chronic abdominal pain or persistent diarrhea, is caused by the ingestion of the larval stage of cysticerci in beef. T. saginata is distributed worldwide but has the highest prevalence in Southern and Eastern Africa.",,,Taenia saginata,,,,,"ICD-11: 1F76.1
 ICD-10: B68.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013622"">D013622</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20701576"">20701576</a>
 著者        Silva CV, Costa-Cruz JM
 タイトル      A glance at Taenia saginata infection, diagnosis, vaccine, biological control and treatment.
 雑誌        Infect Disord Drug Targets 10:313-21 (2010)
 DOI:<a href=""https://doi.org/10.2174/187152610793180894"">10.2174/187152610793180894</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22246486"">22246486</a>
 著者        Hirasaki S, Murakami K, Mizushima T, Hiramatsu K, Hanayama Y, Kanamori T, Koide N
 タイトル      Long-term Taenia saginata infection successfully treated with meglumine/diatrizoate sodium.
 雑誌        Intern Med 51:177-9 (2012)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.51.6499"">10.2169/internalmedicine.51.6499</a>"
H01153,"エキノコックス症;
 多包虫症",,,"Human echinococcosis is a zoonosis caused by the larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, affecting an estimated 2-3 million people worldwide. Contamination of humans occurs by the ingestion of the parasite eggs, either after touching carnivore hosts, or after eating food contaminated by carnivore feces. E. granulosus causes benign tumors/cysts (hydatid cyst disease) that is most often curable. Disease due to E. multilocularis (alveolar hydatid disease) is less common but more difficult to treat. In echinococcosis, anaphylactic reactions might occur with fatal outcome.",感染症,,,"Echinococcus granulosus [GN:egl]
 Echinococcus multilocularis",,,アルベンダゾール [DR:D00134],,"ICD-11: 1F73
 ICD-10: B67
 MeSH: D004443","PMID:22347516 (description, env_factor)
 著者        Bristow BN, Lee S, Shafir S, Sorvillo F
 タイトル      Human echinococcosis mortality in the United States, 1990-2007.
 雑誌        PLoS Negl Trop Dis 6:e1524 (2012)
 DOI:10.1371/journal.pntd.0001524
 PMID:15146106 (descirpion, env_factor)
 著者        Vuitton DA
 タイトル      Echinococcosis and allergy.
 雑誌        Clin Rev Allergy Immunol 26:93-104 (2004)
 DOI:10.1007/s12016-004-0004-2
 PMID:15027603 (drug)
 著者        Macpherson CN, Bartholomot B, Frider B
 タイトル      Application of ultrasound in diagnosis, treatment, epidemiology, public health and control of Echinococcus granulosus and E. multilocularis.
 雑誌        Parasitology 127 Suppl:S21-35 (2003)
 DOI:10.1017/S0031182003003676","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01153"">H01153</a>","エキノコックス症;
 多包虫症","Human echinococcosis is a zoonosis caused by the larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, affecting an estimated 2-3 million people worldwide. Contamination of humans occurs by the ingestion of the parasite eggs, either after touching carnivore hosts, or after eating food contaminated by carnivore feces. E. granulosus causes benign tumors/cysts (hydatid cyst disease) that is most often curable. Disease due to E. multilocularis (alveolar hydatid disease) is less common but more difficult to treat. In echinococcosis, anaphylactic reactions might occur with fatal outcome.",,,"Echinococcus granulosus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:egl"">egl</a>]
 Echinococcus multilocularis",,,"アルベンダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00134"">D00134</a>]",,"ICD-11: 1F73
 ICD-10: B67
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004443"">D004443</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22347516"">22347516</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Bristow BN, Lee S, Shafir S, Sorvillo F
 タイトル      Human echinococcosis mortality in the United States, 1990-2007.
 雑誌        PLoS Negl Trop Dis 6:e1524 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0001524"">10.1371/journal.pntd.0001524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15146106"">15146106</a> (descirpion, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Vuitton DA
 タイトル      Echinococcosis and allergy.
 雑誌        Clin Rev Allergy Immunol 26:93-104 (2004)
 DOI:<a href=""https://doi.org/10.1007/s12016-004-0004-2"">10.1007/s12016-004-0004-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15027603"">15027603</a> (drug)
 著者        Macpherson CN, Bartholomot B, Frider B
 タイトル      Application of ultrasound in diagnosis, treatment, epidemiology, public health and control of Echinococcus granulosus and E. multilocularis.
 雑誌        Parasitology 127 Suppl:S21-35 (2003)
 DOI:<a href=""https://doi.org/10.1017/S0031182003003676"">10.1017/S0031182003003676</a>"
H01154,"早期興奮症候群;
 WPW 症候群",,,"Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading to ventricular fibrillation and sudden cardiac death. It was recently discovered that mutations in PRKAG2, that encodes a subunit of the AMP-activated protein kinase, is responsible for WPW syndrome.",循環器系疾患,,PRKAG2 [HSA:51422] [KO:K07200],,,,,The use of Verapamil [DG:DG00329] or Digoxin [DR:D00298] for long-term therapy appears to be contraindicated for many patients with WPW syndrome.,"ICD-11: BC81.4
 ICD-10: I45.6
 OMIM: 194200","PMID:20888928
 著者        Sternick EB, Oliva A, Gerken LM, Magalhaes L, Scarpelli R, Correia FS, Rego S, Santana O, Brugada R, Wellens HJ
 タイトル      Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation.
 雑誌        Heart Rhythm 8:58-64 (2011)
 DOI:10.1016/j.hrthm.2010.09.081
 PMID:16686673
 著者        Light PE
 タイトル      Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?
 雑誌        J Cardiovasc Electrophysiol 17 Suppl 1:S158-S161 (2006)
 DOI:10.1111/j.1540-8167.2006.00399.x
 PMID:15952923
 著者        Redfearn DP, Krahn AD, Skanes AC, Yee R, Klein GJ
 タイトル      Use of medications in Wolff-Parkinson-White syndrome.
 雑誌        Expert Opin Pharmacother 6:955-63 (2005)
 DOI:10.1517/14656566.6.6.955
 PMID:17547624 (Drug)
 著者        Fragakis N, Iliadis I, Papanastasiou S, Lambrou A, Katsaris G
 タイトル      Brugada type electrocardiographic changes induced by concomitant use of lithium and propafenone in patient with Wolff-Parkinson-White syndrome.
 雑誌        Pacing Clin Electrophysiol 30:823-5 (2007)
 DOI:10.1111/j.1540-8159.2007.00762.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01154"">H01154</a>","早期興奮症候群;
 WPW 症候群","Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading to ventricular fibrillation and sudden cardiac death. It was recently discovered that mutations in PRKAG2, that encodes a subunit of the AMP-activated protein kinase, is responsible for WPW syndrome.",,"PRKAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51422"">51422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07200"">K07200</a>]",,,,,"The use of Verapamil [DG:DG00329] or Digoxin [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00298"">D00298</a>] for long-term therapy appears to be contraindicated for many patients with WPW syndrome.","ICD-11: BC81.4
 ICD-10: I45.6
 OMIM: <a href=""https://www.omim.org/entry/194200"">194200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20888928"">20888928</a>
 著者        Sternick EB, Oliva A, Gerken LM, Magalhaes L, Scarpelli R, Correia FS, Rego S, Santana O, Brugada R, Wellens HJ
 タイトル      Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation.
 雑誌        Heart Rhythm 8:58-64 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.hrthm.2010.09.081"">10.1016/j.hrthm.2010.09.081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16686673"">16686673</a>
 著者        Light PE
 タイトル      Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?
 雑誌        J Cardiovasc Electrophysiol 17 Suppl 1:S158-S161 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1540-8167.2006.00399.x"">10.1111/j.1540-8167.2006.00399.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15952923"">15952923</a>
 著者        Redfearn DP, Krahn AD, Skanes AC, Yee R, Klein GJ
 タイトル      Use of medications in Wolff-Parkinson-White syndrome.
 雑誌        Expert Opin Pharmacother 6:955-63 (2005)
 DOI:<a href=""https://doi.org/10.1517/14656566.6.6.955"">10.1517/14656566.6.6.955</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17547624"">17547624</a> (Drug)
 著者        Fragakis N, Iliadis I, Papanastasiou S, Lambrou A, Katsaris G
 タイトル      Brugada type electrocardiographic changes induced by concomitant use of lithium and propafenone in patient with Wolff-Parkinson-White syndrome.
 雑誌        Pacing Clin Electrophysiol 30:823-5 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1540-8159.2007.00762.x"">10.1111/j.1540-8159.2007.00762.x</a>"
H01155,ルシー・レヴィー症候群,,,"Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described as a phenotypic variant of Charcot-Marie-Tooth disease [DS:H00264] type 1A (CMT-1A) associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies.",神経系疾患,,"MPZ [HSA:4359] [KO:K06770]
 PMP22 [HSA:5376] [KO:K19289]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: D002607
 OMIM: 180800","PMID:18592125
 著者        Zubair S, Holland NR, Beson B, Parke JT, Prodan CI
 タイトル      A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
 雑誌        J Neurol 255:1417-8 (2008)
 DOI:10.1007/s00415-008-0896-5
 PMID:12428130
 著者        Haubrich C, Krings T, Senderek J, Zuchner S, Schroder JM, Noth J, Topper R
 タイトル      Hypertrophic nerve roots in a case of Roussy-Levy syndrome.
 雑誌        Neuroradiology 44:933-7 (2002)
 DOI:10.1007/s00234-002-0847-2
 PMID:10553995
 著者        Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
 タイトル      The Roussy-Levy family: from the original description to the gene.
 雑誌        Ann Neurol 46:770-3 (1999)
 DOI:10.1002/1531-8249(199911)46:5<770::AID-ANA13>3.0.CO;2-U","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01155"">H01155</a>",ルシー・レヴィー症候群,"Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described as a phenotypic variant of Charcot-Marie-Tooth disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>] type 1A (CMT-1A) associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies.",,"MPZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4359"">4359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06770"">K06770</a>]
 PMP22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5376"">5376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19289"">K19289</a>]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002607"">D002607</a>
 OMIM: <a href=""https://www.omim.org/entry/180800"">180800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18592125"">18592125</a>
 著者        Zubair S, Holland NR, Beson B, Parke JT, Prodan CI
 タイトル      A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
 雑誌        J Neurol 255:1417-8 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00415-008-0896-5"">10.1007/s00415-008-0896-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12428130"">12428130</a>
 著者        Haubrich C, Krings T, Senderek J, Zuchner S, Schroder JM, Noth J, Topper R
 タイトル      Hypertrophic nerve roots in a case of Roussy-Levy syndrome.
 雑誌        Neuroradiology 44:933-7 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00234-002-0847-2"">10.1007/s00234-002-0847-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10553995"">10553995</a>
 著者        Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
 タイトル      The Roussy-Levy family: from the original description to the gene.
 雑誌        Ann Neurol 46:770-3 (1999)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(199911)46:"">10.1002/1531-8249(199911)46:</a><a href=""https://doi.org/5<770:"">5<770:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-ANA13>3.0.CO;2-U"">AID-ANA13>3.0.CO;2-U</a>"
H01156,STAR 症候群,,,"STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features of this syndrome are a characteristic facial appearance with apparent telecanthus and broad tripartite nasal tip, variable syndactyly of toes 2-5, hypoplastic labia, anal atresia, and urogenital malformations.",先天奇形,,FAM58A [HSA:92002] [KO:K23964],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C567475
 OMIM: 300707","PMID:18297069
 著者        Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J
 タイトル      Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
 雑誌        Nat Genet 40:287-9 (2008)
 DOI:10.1038/ng.86","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01156"">H01156</a>",STAR 症候群,"STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features of this syndrome are a characteristic facial appearance with apparent telecanthus and broad tripartite nasal tip, variable syndactyly of toes 2-5, hypoplastic labia, anal atresia, and urogenital malformations.",,"FAM58A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92002"">92002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23964"">K23964</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567475"">C567475</a>
 OMIM: <a href=""https://www.omim.org/entry/300707"">300707</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18297069"">18297069</a>
 著者        Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J
 タイトル      Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
 雑誌        Nat Genet 40:287-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.86"">10.1038/ng.86</a>"
H01157,Agrobacterium radiobacter 感染,,,"Agrobacteria are small, gram-negative bacilli widely distributed in soil. They are best known for the phytopathogenicity, causing tumorigenic disease in plants. However, Agrobacterium spp. are also recognized as rare human pathogens affecting mostly immunocompromised or chronically debilitated hosts and patients with indwelling catheters. Clinical manifestations include bacteremia, peritonitis, and deltoid muscle myositis.",感染症,,,Agrobacterium radiobacter,,,,,,"PMID:14735386
 著者        Paphitou NI, Rolston KV
 タイトル      Catheter-related bacteremia caused by Agrobacterium radiobacter in a cancer patient: case report and literature review.
 雑誌        Infection 31:421-4 (2003)
 DOI:10.1007/s15010-003-3175-5
 PMID:12586984
 著者        Amaya RA, Edwards MS
 タイトル      Agrobacterium radiobacter bacteremia in pediatric patients: case report and review.
 雑誌        Pediatr Infect Dis J 22:183-6 (2003)
 DOI:10.1097/01.inf.0000048960.37470.ef
 PMID:18539494
 著者        Detrait M, D'Hondt L, Andre M, Lonchay C, Holemans X, Maton JP, Canon JL
 タイトル      Agrobacterium radiobacter bacteremia in oncologic and geriatric patients: presentation of two cases and review of the literature.
 雑誌        Int J Infect Dis 12:e7-10 (2008)
 DOI:10.1016/j.ijid.2008.03.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01157"">H01157</a>",Agrobacterium radiobacter 感染,"Agrobacteria are small, gram-negative bacilli widely distributed in soil. They are best known for the phytopathogenicity, causing tumorigenic disease in plants. However, Agrobacterium spp. are also recognized as rare human pathogens affecting mostly immunocompromised or chronically debilitated hosts and patients with indwelling catheters. Clinical manifestations include bacteremia, peritonitis, and deltoid muscle myositis.",,,Agrobacterium radiobacter,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14735386"">14735386</a>
 著者        Paphitou NI, Rolston KV
 タイトル      Catheter-related bacteremia caused by Agrobacterium radiobacter in a cancer patient: case report and literature review.
 雑誌        Infection 31:421-4 (2003)
 DOI:<a href=""https://doi.org/10.1007/s15010-003-3175-5"">10.1007/s15010-003-3175-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12586984"">12586984</a>
 著者        Amaya RA, Edwards MS
 タイトル      Agrobacterium radiobacter bacteremia in pediatric patients: case report and review.
 雑誌        Pediatr Infect Dis J 22:183-6 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.inf.0000048960.37470.ef"">10.1097/01.inf.0000048960.37470.ef</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18539494"">18539494</a>
 著者        Detrait M, D'Hondt L, Andre M, Lonchay C, Holemans X, Maton JP, Canon JL
 タイトル      Agrobacterium radiobacter bacteremia in oncologic and geriatric patients: presentation of two cases and review of the literature.
 雑誌        Int J Infect Dis 12:e7-10 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2008.03.010"">10.1016/j.ijid.2008.03.010</a>"
H01158,全身性脱毛症,,,"Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner.",皮膚疾患,,HR [HSA:55806] [KO:K00478],,,,バリシチニブ [DR:D10308] (脱毛部位が広範囲に及ぶ),,"ICD-11: ED70.2
 ICD-10: L63.1
 MeSH: C537055
 OMIM: 203655","PMID:21272494
 著者        Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N
 タイトル      Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
 雑誌        Dermatol Online J 17:3 (2011)
 PMID:9445480
 著者        Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM
 タイトル      Alopecia universalis associated with a mutation in the human hairless gene.
 雑誌        Science 279:720-4 (1998)
 DOI:10.1126/science.279.5351.720
 PMID:9736769
 著者        Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM
 タイトル      Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
 雑誌        Hum Mol Genet 7:1671-9 (1998)
 DOI:10.1093/hmg/7.11.1671","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01158"">H01158</a>",全身性脱毛症,"Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner.",,"HR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55806"">55806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00478"">K00478</a>]",,,,"バリシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10308"">D10308</a>] (脱毛部位が広範囲に及ぶ)",,"ICD-11: ED70.2
 ICD-10: L63.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537055"">C537055</a>
 OMIM: <a href=""https://www.omim.org/entry/203655"">203655</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21272494"">21272494</a>
 著者        Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N
 タイトル      Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
 雑誌        Dermatol Online J 17:3 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9445480"">9445480</a>
 著者        Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM
 タイトル      Alopecia universalis associated with a mutation in the human hairless gene.
 雑誌        Science 279:720-4 (1998)
 DOI:<a href=""https://doi.org/10.1126/science.279.5351.720"">10.1126/science.279.5351.720</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9736769"">9736769</a>
 著者        Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM
 タイトル      Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
 雑誌        Hum Mol Genet 7:1671-9 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.11.1671"">10.1093/hmg/7.11.1671</a>"
H01159,"遺伝性前眼部形成異常
 下位グループ    ピータース異常 [DS:H01075]
 Axenfeld–Rieger 症候群 [DS:H00620]
 無虹彩症 [DS:H00635]",,,"Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.",先天奇形,,"(ASGD1) PITX3 [HSA:5309] [KO:K09357]
 (ASGD2) FOXE3 [HSA:2301] [KO:K09398]
 (ASGD3) FOXC1 [HSA:2296] [KO:K09396]
 (ASGD4) PITX2 [HSA:5308] [KO:K04686]
 (ASGD5) PAX6 [HSA:5080] [KO:K08031]
 (ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
 (ASGD7) PXDN [HSA:7837] [KO:K19511]
 (ASGD8) CPAMD8 [HSA:27151]",,,,,,"ICD-11: LA11.2
 ICD-10: Q13
 MeSH: C537775
 OMIM: 107250 610256 601631 137600 604229 617315 269400 617319","PMID:18989383 (PITX3)
 著者        Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
 タイトル      Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
 雑誌        Mol Vis 14:2010-5 (2008)
 PMID:11159941 (FOXE3)
 著者        Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M
 タイトル      Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
 雑誌        Hum Mol Genet 10:231-6 (2001)
 DOI:10.1093/hmg/10.3.231
 PMID:9620769 (FOXC1)
 著者        Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC
 タイトル      The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
 雑誌        Nat Genet 19:140-7 (1998)
 DOI:10.1038/493
 PMID:9437321 (PITX2)
 著者        Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC
 タイトル      Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
 雑誌        Am J Ophthalmol 125:98-100 (1998)
 DOI:10.1016/s0002-9394(99)80242-6
 PMID:8162071 (PAX6)
 著者        Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V
 タイトル      Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
 雑誌        Nat Genet 6:168-73 (1994)
 DOI:10.1038/ng0294-168
 PMID:11403040 (CYP1B1)
 著者        Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E
 タイトル      Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
 雑誌        J Med Genet 38:324-6 (2001)
 DOI:10.1136/jmg.38.5.324
 PMID:24939590 (PXDN)
 著者        Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
 タイトル      Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
 雑誌        Eur J Hum Genet 23:337-41 (2015)
 DOI:10.1038/ejhg.2014.119
 PMID:27839872 (CPAMD8)
 著者        Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ
 タイトル      Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
 雑誌        Am J Hum Genet 99:1338-1352 (2016)
 DOI:10.1016/j.ajhg.2016.09.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01159"">H01159</a>","遺伝性前眼部形成異常
 下位グループ    ピータース異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01075"">H01075</a>]
 Axenfeld–Rieger 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00620"">H00620</a>]
 無虹彩症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00635"">H00635</a>]","Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.",,"(ASGD1) PITX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5309"">5309</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09357"">K09357</a>]
 (ASGD2) FOXE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2301"">2301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]
 (ASGD3) FOXC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2296"">2296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09396"">K09396</a>]
 (ASGD4) PITX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5308"">5308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04686"">K04686</a>]
 (ASGD5) PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]
 (ASGD6) CYP1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1545"">1545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07410"">K07410</a>]
 (ASGD7) PXDN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7837"">7837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19511"">K19511</a>]
 (ASGD8) CPAMD8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27151"">27151</a>]",,,,,,"ICD-11: LA11.2
 ICD-10: Q13
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537775"">C537775</a>
 OMIM: <a href=""https://www.omim.org/entry/107250"">107250</a> <a href=""https://www.omim.org/entry/610256"">610256</a> <a href=""https://www.omim.org/entry/601631"">601631</a> <a href=""https://www.omim.org/entry/137600"">137600</a> <a href=""https://www.omim.org/entry/604229"">604229</a> <a href=""https://www.omim.org/entry/617315"">617315</a> <a href=""https://www.omim.org/entry/269400"">269400</a> <a href=""https://www.omim.org/entry/617319"">617319</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18989383"">18989383</a> (PITX3)
 著者        Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
 タイトル      Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
 雑誌        Mol Vis 14:2010-5 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11159941"">11159941</a> (FOXE3)
 著者        Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M
 タイトル      Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
 雑誌        Hum Mol Genet 10:231-6 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.3.231"">10.1093/hmg/10.3.231</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9620769"">9620769</a> (FOXC1)
 著者        Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC
 タイトル      The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
 雑誌        Nat Genet 19:140-7 (1998)
 DOI:<a href=""https://doi.org/10.1038/493"">10.1038/493</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9437321"">9437321</a> (PITX2)
 著者        Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC
 タイトル      Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
 雑誌        Am J Ophthalmol 125:98-100 (1998)
 DOI:<a href=""https://doi.org/10.1016/s0002-9394(99)80242-6"">10.1016/s0002-9394(99)80242-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8162071"">8162071</a> (PAX6)
 著者        Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V
 タイトル      Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
 雑誌        Nat Genet 6:168-73 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng0294-168"">10.1038/ng0294-168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11403040"">11403040</a> (CYP1B1)
 著者        Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E
 タイトル      Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
 雑誌        J Med Genet 38:324-6 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.5.324"">10.1136/jmg.38.5.324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24939590"">24939590</a> (PXDN)
 著者        Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
 タイトル      Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
 雑誌        Eur J Hum Genet 23:337-41 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.119"">10.1038/ejhg.2014.119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27839872"">27839872</a> (CPAMD8)
 著者        Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ
 タイトル      Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
 雑誌        Am J Hum Genet 99:1338-1352 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.022"">10.1016/j.ajhg.2016.09.022</a>"
H01160,"裂脳症
 上位グループ    神経細胞移動異常症 [DS:H01835]",,,"Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported.",先天奇形,,"SIX3 [HSA:6496] [KO:K19473]
 SHH [HSA:6469] [KO:K11988]
 EMX2 [HSA:2018] [KO:K09317]",,,,,Schizencephaly may be considered as part of the wide phenotypic spectrum of the distinct developmental anomaly holoprosencephaly [DS:H00267].,"ICD-11: LA05.61
 ICD-10: Q04.6
 MeSH: D054220
 OMIM: 269160","PMID:20157829 (description, gene, comment)
 著者        Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M
 タイトル      Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
 雑誌        Hum Genet 127:555-61 (2010)
 DOI:10.1007/s00439-010-0797-4
 PMID:15888615
 著者        Oh KY, Kennedy AM, Frias AE Jr, Byrne JL
 タイトル      Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations.
 雑誌        Radiographics 25:647-57 (2005)
 DOI:10.1148/rg.253045103
 PMID:8528262
 著者        Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E
 タイトル      Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
 雑誌        Nat Genet 12:94-6 (1996)
 DOI:10.1038/ng0196-94","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01160"">H01160</a>","裂脳症
 上位グループ    神経細胞移動異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>]","Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported.",,"SIX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6496"">6496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19473"">K19473</a>]
 SHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6469"">6469</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11988"">K11988</a>]
 EMX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2018"">2018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09317"">K09317</a>]",,,,,"Schizencephaly may be considered as part of the wide phenotypic spectrum of the distinct developmental anomaly holoprosencephaly [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00267]."">H00267].</a>","ICD-11: LA05.61
 ICD-10: Q04.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054220"">D054220</a>
 OMIM: <a href=""https://www.omim.org/entry/269160"">269160</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20157829"">20157829</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M
 タイトル      Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
 雑誌        Hum Genet 127:555-61 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0797-4"">10.1007/s00439-010-0797-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15888615"">15888615</a>
 著者        Oh KY, Kennedy AM, Frias AE Jr, Byrne JL
 タイトル      Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations.
 雑誌        Radiographics 25:647-57 (2005)
 DOI:<a href=""https://doi.org/10.1148/rg.253045103"">10.1148/rg.253045103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8528262"">8528262</a>
 著者        Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E
 タイトル      Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
 雑誌        Nat Genet 12:94-6 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0196-94"">10.1038/ng0196-94</a>"
H01161,"芳香族アミノ酸脱炭酸酵素欠損症;
 AADC欠損症",,,"Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine.",神経系疾患,,DDC [HSA:1644] [KO:K01593],,,,,,"ICD-11: 5C59.00
 ICD-10: G24.8
 MeSH: C537437
 OMIM: 608643","PMID:15079002
 著者        Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC
 タイトル      Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
 雑誌        Neurology 62:1058-65 (2004)
 DOI:10.1212/WNL.62.7.1058
 PMID:20505134
 著者        Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Regal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N
 タイトル      Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
 雑誌        Neurology 75:64-71 (2010)
 DOI:10.1212/WNL.0b013e3181e620ae","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01161"">H01161</a>","芳香族アミノ酸脱炭酸酵素欠損症;
 AADC欠損症","Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine.",,"DDC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1644"">1644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01593"">K01593</a>]",,,,,,"ICD-11: 5C59.00
 ICD-10: G24.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537437"">C537437</a>
 OMIM: <a href=""https://www.omim.org/entry/608643"">608643</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15079002"">15079002</a>
 著者        Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC
 タイトル      Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
 雑誌        Neurology 62:1058-65 (2004)
 DOI:<a href=""https://doi.org/10.1212/WNL.62.7.1058"">10.1212/WNL.62.7.1058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20505134"">20505134</a>
 著者        Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Regal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N
 タイトル      Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
 雑誌        Neurology 75:64-71 (2010)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3181e620ae"">10.1212/WNL.0b013e3181e620ae</a>"
H01162,スコット症候群,,,"Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine (PS) at the outer surface of the platelets, where it can anchor coagulation factors. This phenomenon is mediated by lipid scramblase. In patients with Scott syndrome this mechanism is defective, resulting in impaired blood clotting. A mutation in the gene encoding scramblase TMEM16F has been found.",,,ANO6 [HSA:196527] [KO:K19500],,,,,,"ICD-11: 3B62.Y
 ICD-10: D69.8
 OMIM: 262890","PMID:18180086
 著者        Salles II, Feys HB, Iserbyt BF, De Meyer SF, Vanhoorelbeke K, Deckmyn H
 タイトル      Inherited traits affecting platelet function.
 雑誌        Blood Rev 22:155-72 (2008)
 DOI:10.1016/j.blre.2007.11.002
 PMID:21642943
 著者        Duran C, Hartzell HC
 タイトル      Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
 雑誌        Acta Pharmacol Sin 32:685-92 (2011)
 DOI:10.1038/aps.2011.48
 PMID:21107324
 著者        Suzuki J, Umeda M, Sims PJ, Nagata S
 タイトル      Calcium-dependent phospholipid scrambling by TMEM16F.
 雑誌        Nature 468:834-8 (2010)
 DOI:10.1038/nature09583","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01162"">H01162</a>",スコット症候群,"Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine (PS) at the outer surface of the platelets, where it can anchor coagulation factors. This phenomenon is mediated by lipid scramblase. In patients with Scott syndrome this mechanism is defective, resulting in impaired blood clotting. A mutation in the gene encoding scramblase TMEM16F has been found.",,"ANO6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:196527"">196527</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19500"">K19500</a>]",,,,,,"ICD-11: 3B62.Y
 ICD-10: D69.8
 OMIM: <a href=""https://www.omim.org/entry/262890"">262890</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18180086"">18180086</a>
 著者        Salles II, Feys HB, Iserbyt BF, De Meyer SF, Vanhoorelbeke K, Deckmyn H
 タイトル      Inherited traits affecting platelet function.
 雑誌        Blood Rev 22:155-72 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2007.11.002"">10.1016/j.blre.2007.11.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21642943"">21642943</a>
 著者        Duran C, Hartzell HC
 タイトル      Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
 雑誌        Acta Pharmacol Sin 32:685-92 (2011)
 DOI:<a href=""https://doi.org/10.1038/aps.2011.48"">10.1038/aps.2011.48</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21107324"">21107324</a>
 著者        Suzuki J, Umeda M, Sims PJ, Nagata S
 タイトル      Calcium-dependent phospholipid scrambling by TMEM16F.
 雑誌        Nature 468:834-8 (2010)
 DOI:<a href=""https://doi.org/10.1038/nature09583"">10.1038/nature09583</a>"
H01163,先天性 CBG 欠損症,,,Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only a few causative genetic variants in human CBG (SERPINA6) gene have been described.,内分泌疾患,nt06019  Steroid hormone biosynthesis,SERPINA6 [HSA:866] [KO:K04525],,,,,,"ICD-11: 5A76.Y
 ICD-10: E27.8
 MeSH: C565152
 OMIM: 611489","PMID:20610591
 著者        Perogamvros I, Underhill C, Henley DE, Hadfield KD, Newman WG, Ray DW, Lightman SL, Hammond GL, Trainer PJ
 タイトル      Novel corticosteroid-binding globulin variant that lacks steroid binding activity.
 雑誌        J Clin Endocrinol Metab 95:E142-50 (2010)
 DOI:10.1210/jc.2010-0746","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01163"">H01163</a>",先天性 CBG 欠損症,Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only a few causative genetic variants in human CBG (SERPINA6) gene have been described.,"<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","SERPINA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:866"">866</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04525"">K04525</a>]",,,,,,"ICD-11: 5A76.Y
 ICD-10: E27.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565152"">C565152</a>
 OMIM: <a href=""https://www.omim.org/entry/611489"">611489</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20610591"">20610591</a>
 著者        Perogamvros I, Underhill C, Henley DE, Hadfield KD, Newman WG, Ray DW, Lightman SL, Hammond GL, Trainer PJ
 タイトル      Novel corticosteroid-binding globulin variant that lacks steroid binding activity.
 雑誌        J Clin Endocrinol Metab 95:E142-50 (2010)
 DOI:<a href=""https://doi.org/10.1210/jc.2010-0746"">10.1210/jc.2010-0746</a>"
H01164,Paracoccus yeei 感染,,,"Paracoccus yeei, a gram-negative bacterium, has been identified as an unusual etiologic opportunistic agent in patients with cardiac transplant, automated peritoneal dialysis, or corneal graft.",感染症,,,Paracoccus yeei,,,,,,"PMID:20854281
 著者        Schweiger M, Stiegler P, Scarpatetti M, Wasler A, Sereinigg M, Prenner G, Tscheliessnigg K
 タイトル      Case of Paracoccus yeei infection documented in a transplanted heart.
 雑誌        Transpl Infect Dis 13:200-3 (2011)
 DOI:10.1111/j.1399-3062.2010.00571.x
 PMID:19556157
 著者        Wallet F, Blondiaux N, Foy CL, Loiez C, Armand S, Pagniez D, Courcol RJ
 タイトル      Paracoccus yeei: a new unusual opportunistic bacterium in ambulatory peritoneal dialysis.
 雑誌        Int J Infect Dis 14:e173-4 (2010)
 DOI:10.1016/j.ijid.2009.03.030
 PMID:15243119
 著者        Funke G, Frodl R, Sommer H
 タイトル      First comprehensively documented case of Paracoccus yeei infection in a human.
 雑誌        J Clin Microbiol 42:3366-8 (2004)
 DOI:10.1128/JCM.42.7.3366-3368.2004
 PMID:19889897
 著者        Kanis MJ, Oosterheert JJ, Lin S, Boel CH, Ekkelenkamp MB
 タイトル      Corneal graft rejection complicated by Paracoccus yeei infection in a patient who had undergone a penetrating keratoplasty.
 雑誌        J Clin Microbiol 48:323-5 (2010)
 DOI:10.1128/JCM.01798-09","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01164"">H01164</a>",Paracoccus yeei 感染,"Paracoccus yeei, a gram-negative bacterium, has been identified as an unusual etiologic opportunistic agent in patients with cardiac transplant, automated peritoneal dialysis, or corneal graft.",,,Paracoccus yeei,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20854281"">20854281</a>
 著者        Schweiger M, Stiegler P, Scarpatetti M, Wasler A, Sereinigg M, Prenner G, Tscheliessnigg K
 タイトル      Case of Paracoccus yeei infection documented in a transplanted heart.
 雑誌        Transpl Infect Dis 13:200-3 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-3062.2010.00571.x"">10.1111/j.1399-3062.2010.00571.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19556157"">19556157</a>
 著者        Wallet F, Blondiaux N, Foy CL, Loiez C, Armand S, Pagniez D, Courcol RJ
 タイトル      Paracoccus yeei: a new unusual opportunistic bacterium in ambulatory peritoneal dialysis.
 雑誌        Int J Infect Dis 14:e173-4 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2009.03.030"">10.1016/j.ijid.2009.03.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15243119"">15243119</a>
 著者        Funke G, Frodl R, Sommer H
 タイトル      First comprehensively documented case of Paracoccus yeei infection in a human.
 雑誌        J Clin Microbiol 42:3366-8 (2004)
 DOI:<a href=""https://doi.org/10.1128/JCM.42.7.3366-3368.2004"">10.1128/JCM.42.7.3366-3368.2004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19889897"">19889897</a>
 著者        Kanis MJ, Oosterheert JJ, Lin S, Boel CH, Ekkelenkamp MB
 タイトル      Corneal graft rejection complicated by Paracoccus yeei infection in a patient who had undergone a penetrating keratoplasty.
 雑誌        J Clin Microbiol 48:323-5 (2010)
 DOI:<a href=""https://doi.org/10.1128/JCM.01798-09"">10.1128/JCM.01798-09</a>"
H01165,Novosphingobium aromaticivorans 感染,,,"Novosphingobium aromaticivorans is a gram-negative aerobic bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of primary biliary cirrhosis because it expresses proteins that have high homology with human pyruvate dehydrogenase component (PDC-E2), which can act as an immunological trigger for T cell-mediated tissue destruction.",感染症,,,"Novosphingobium aromaticivorans
 PDC-E2 like protein",,,,,,"PMID:15554995
 著者        Kaplan MM
 タイトル      Novosphingobium aromaticivorans: a potential initiator of primary biliary cirrhosis.
 雑誌        Am J Gastroenterol 99:2147-9 (2004)
 DOI:10.1111/j.1572-0241.2004.41121.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01165"">H01165</a>",Novosphingobium aromaticivorans 感染,"Novosphingobium aromaticivorans is a gram-negative aerobic bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of primary biliary cirrhosis because it expresses proteins that have high homology with human pyruvate dehydrogenase component (PDC-E2), which can act as an immunological trigger for T cell-mediated tissue destruction.",,,"Novosphingobium aromaticivorans
 PDC-E2 like protein",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15554995"">15554995</a>
 著者        Kaplan MM
 タイトル      Novosphingobium aromaticivorans: a potential initiator of primary biliary cirrhosis.
 雑誌        Am J Gastroenterol 99:2147-9 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1572-0241.2004.41121.x"">10.1111/j.1572-0241.2004.41121.x</a>"
H01166,Sphingomonas paucimobilis 感染,,,"Sphingomonas paucimobilis is a yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has  been reported to cause nosocomial infections and is considered to originate from contaminated hospital environment and equipment.",感染症,,,Sphingomonas paucimobilis,,,,,,"PMID:20434794
 著者        Ryan MP, Adley CC
 タイトル      Sphingomonas paucimobilis: a persistent Gram-negative nosocomial infectious organism.
 雑誌        J Hosp Infect 75:153-7 (2010)
 DOI:10.1016/j.jhin.2010.03.007
 PMID:21524965
 著者        Toh HS, Tay HT, Kuar WK, Weng TC, Tang HJ, Tan CK
 タイトル      Risk factors associated with Sphingomonas paucimobilis infection.
 雑誌        J Microbiol Immunol Infect 44:289-95 (2011)
 DOI:10.1016/j.jmii.2010.08.007
 PMID:21719938
 著者        Mutlu M, Bayramoglu G, Yilmaz G, Saygin B, Aslan Y
 タイトル      Outbreak of Sphingomonas paucimobilis septicemia in a neonatal intensive care unit.
 雑誌        Indian Pediatr 48:723-5 (2011)
 DOI:10.1007/s13312-011-0114-x
 PMID:21960744
 著者        Ozdemir M, Pekcan S, Demircili ME, Tasbent FE, Feyzioglu B, Pirinc S, Baykan M
 タイトル      A rare cause of bacteremia in a pediatric patient with Down syndrome: Sphingomonas paucimobilis.
 雑誌        Int J Med Sci 8:537-9 (2011)
 DOI:10.7150/ijms.8.537","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01166"">H01166</a>",Sphingomonas paucimobilis 感染,"Sphingomonas paucimobilis is a yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has  been reported to cause nosocomial infections and is considered to originate from contaminated hospital environment and equipment.",,,Sphingomonas paucimobilis,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20434794"">20434794</a>
 著者        Ryan MP, Adley CC
 タイトル      Sphingomonas paucimobilis: a persistent Gram-negative nosocomial infectious organism.
 雑誌        J Hosp Infect 75:153-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jhin.2010.03.007"">10.1016/j.jhin.2010.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21524965"">21524965</a>
 著者        Toh HS, Tay HT, Kuar WK, Weng TC, Tang HJ, Tan CK
 タイトル      Risk factors associated with Sphingomonas paucimobilis infection.
 雑誌        J Microbiol Immunol Infect 44:289-95 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jmii.2010.08.007"">10.1016/j.jmii.2010.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21719938"">21719938</a>
 著者        Mutlu M, Bayramoglu G, Yilmaz G, Saygin B, Aslan Y
 タイトル      Outbreak of Sphingomonas paucimobilis septicemia in a neonatal intensive care unit.
 雑誌        Indian Pediatr 48:723-5 (2011)
 DOI:<a href=""https://doi.org/10.1007/s13312-011-0114-x"">10.1007/s13312-011-0114-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21960744"">21960744</a>
 著者        Ozdemir M, Pekcan S, Demircili ME, Tasbent FE, Feyzioglu B, Pirinc S, Baykan M
 タイトル      A rare cause of bacteremia in a pediatric patient with Down syndrome: Sphingomonas paucimobilis.
 雑誌        Int J Med Sci 8:537-9 (2011)
 DOI:<a href=""https://doi.org/10.7150/ijms.8.537"">10.7150/ijms.8.537</a>"
H01167,Granulibacter 感染,,,"Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, in which phagocytes are not able to produce bactericidal superoxide anions. Bacteremia has also been observed in a non-immunocompromised patient with a history of intravenous drug abuse.",感染症,,"CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K21421]
 CYBA (Chronic granulomatous disease) [HSA:1535] [KO:K08009]
 NCF1 (Chronic granulomatous disease) [HSA:653361] [KO:K08011]",Granulibacter bethesdensis [GN:gbe],,,,Chronic granulomatous disease is described in H00098.,,"PMID:16617373
 著者        Greenberg DE, Ding L, Zelazny AM, Stock F, Wong A, Anderson VL, Miller G, Kleiner DE, Tenorio AR, Brinster L, Dorward DW, Murray PR, Holland SM
 タイトル      A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease.
 雑誌        PLoS Pathog 2:e28 (2006)
 DOI:10.1371/journal.ppat.0020028
 PMID:17082400
 著者        Greenberg DE, Porcella SF, Stock F, Wong A, Conville PS, Murray PR, Holland SM, Zelazny AM
 タイトル      Granulibacter bethesdensis gen. nov., sp. nov., a distinctive pathogenic acetic acid bacterium in the family Acetobacteraceae.
 雑誌        Int J Syst Evol Microbiol 56:2609-16 (2006)
 DOI:10.1099/ijs.0.64412-0
 PMID:17827295
 著者        Greenberg DE, Porcella SF, Zelazny AM, Virtaneva K, Sturdevant DE, Kupko JJ 3rd, Barbian KD, Babar A, Dorward DW, Holland SM.
 タイトル      Genome sequence analysis of the emerging human pathogenic acetic acid bacterium Granulibacter bethesdensis.
 雑誌        J Bacteriol 189:8727-36 (2007)
 DOI:10.1128/JB.00793-07","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01167"">H01167</a>",Granulibacter 感染,"Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, in which phagocytes are not able to produce bactericidal superoxide anions. Bacteremia has also been observed in a non-immunocompromised patient with a history of intravenous drug abuse.",,"CYBB (Chronic granulomatous disease) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1536"">1536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21421"">K21421</a>]
 CYBA (Chronic granulomatous disease) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1535"">1535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08009"">K08009</a>]
 NCF1 (Chronic granulomatous disease) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:653361"">653361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08011"">K08011</a>]","Granulibacter bethesdensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:gbe"">gbe</a>]",,,,"Chronic granulomatous disease is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00098."">H00098.</a>",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16617373"">16617373</a>
 著者        Greenberg DE, Ding L, Zelazny AM, Stock F, Wong A, Anderson VL, Miller G, Kleiner DE, Tenorio AR, Brinster L, Dorward DW, Murray PR, Holland SM
 タイトル      A novel bacterium associated with lymphadenitis in a patient with chronic granulomatous disease.
 雑誌        PLoS Pathog 2:e28 (2006)
 DOI:<a href=""https://doi.org/10.1371/journal.ppat.0020028"">10.1371/journal.ppat.0020028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17082400"">17082400</a>
 著者        Greenberg DE, Porcella SF, Stock F, Wong A, Conville PS, Murray PR, Holland SM, Zelazny AM
 タイトル      Granulibacter bethesdensis gen. nov., sp. nov., a distinctive pathogenic acetic acid bacterium in the family Acetobacteraceae.
 雑誌        Int J Syst Evol Microbiol 56:2609-16 (2006)
 DOI:<a href=""https://doi.org/10.1099/ijs.0.64412-0"">10.1099/ijs.0.64412-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17827295"">17827295</a>
 著者        Greenberg DE, Porcella SF, Zelazny AM, Virtaneva K, Sturdevant DE, Kupko JJ 3rd, Barbian KD, Babar A, Dorward DW, Holland SM.
 タイトル      Genome sequence analysis of the emerging human pathogenic acetic acid bacterium Granulibacter bethesdensis.
 雑誌        J Bacteriol 189:8727-36 (2007)
 DOI:<a href=""https://doi.org/10.1128/JB.00793-07"">10.1128/JB.00793-07</a>"
H01168,海青組織球病,,,"Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported.",,,APOE [HSA:348] [KO:K04524],,Total parenteral nutrition,,,"Most cases of sea-blue histiocytosis are secondary to lipid metabolic diseases, such as Niemann-Pick disease [DS:H00136], Fabry disease [DS:H00125], or ceroid strage diseases.","ICD-10: D76.3
 MeSH: D012618
 OMIM: 269600","PMID:9613982 (description, environmental factor)
 著者        Bigorgne C, Le Tourneau A, Vahedi K, Rio B, Messing B, Molina T, Audouin J, Diebold J
 タイトル      Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition.
 雑誌        Leuk Lymphoma 28:523-9 (1998)
 DOI:10.3109/10428199809058360
 PMID:17510534 (description, comment)
 著者        Suzuki O, Abe M
 タイトル      Secondary sea-blue histiocytosis derived from Niemann-Pick disease.
 雑誌        J Clin Exp Hematop 47:19-21 (2007)
 DOI:10.3960/jslrt.47.19
 PMID:16094309
 著者        Faivre L, Saugier-Veber P, Pais de Barros JP, Verges B, Couret B, Lorcerie B, Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L
 タイトル      Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
 雑誌        Eur J Hum Genet 13:1186-91 (2005)
 DOI:10.1038/sj.ejhg.5201480
 PMID:11095479
 著者        Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T
 タイトル      Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].
 雑誌        J Clin Endocrinol Metab 85:4354-8 (2000)
 DOI:10.1210/jcem.85.11.6981","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01168"">H01168</a>",海青組織球病,"Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported.",,"APOE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348"">348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04524"">K04524</a>]",,Total parenteral nutrition,,,"Most cases of sea-blue histiocytosis are secondary to lipid metabolic diseases, such as Niemann-Pick disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00136],"">H00136],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Fabry"">Fabry</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00125],"">H00125],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ceroid"">ceroid</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:strage"">strage</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diseases."">diseases.</a>","ICD-10: D76.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012618"">D012618</a>
 OMIM: <a href=""https://www.omim.org/entry/269600"">269600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9613982"">9613982</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Bigorgne C, Le Tourneau A, Vahedi K, Rio B, Messing B, Molina T, Audouin J, Diebold J
 タイトル      Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition.
 雑誌        Leuk Lymphoma 28:523-9 (1998)
 DOI:<a href=""https://doi.org/10.3109/10428199809058360"">10.3109/10428199809058360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17510534"">17510534</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Suzuki O, Abe M
 タイトル      Secondary sea-blue histiocytosis derived from Niemann-Pick disease.
 雑誌        J Clin Exp Hematop 47:19-21 (2007)
 DOI:<a href=""https://doi.org/10.3960/jslrt.47.19"">10.3960/jslrt.47.19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16094309"">16094309</a>
 著者        Faivre L, Saugier-Veber P, Pais de Barros JP, Verges B, Couret B, Lorcerie B, Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L
 タイトル      Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
 雑誌        Eur J Hum Genet 13:1186-91 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201480"">10.1038/sj.ejhg.5201480</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11095479"">11095479</a>
 著者        Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T
 タイトル      Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].
 雑誌        J Clin Endocrinol Metab 85:4354-8 (2000)
 DOI:<a href=""https://doi.org/10.1210/jcem.85.11.6981"">10.1210/jcem.85.11.6981</a>"
H01169,Acetobacter 感染,,,Acetobacter belongs to the group of acetic acid bacteria that oxidize alcohols or sugars incompletely. A. cibinongensis is one of the members that is mainly found in tropical fruits and flowers. A case of human infection with A. cibinongensis has been reported.,感染症,,,Acetobacter cibinongensis,,,,,,"PMID:18044042
 著者        Gouby A, Teyssier C, Vecina F, Marchandin H, Granolleras C, Zorgniotti I, Jumas-Bilak E
 タイトル      Acetobacter cibinongensis bacteremia in human.
 雑誌        Emerg Infect Dis 13:784-5 (2007)
 DOI:10.3201/eid1305.060532","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01169"">H01169</a>",Acetobacter 感染,Acetobacter belongs to the group of acetic acid bacteria that oxidize alcohols or sugars incompletely. A. cibinongensis is one of the members that is mainly found in tropical fruits and flowers. A case of human infection with A. cibinongensis has been reported.,,,Acetobacter cibinongensis,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18044042"">18044042</a>
 著者        Gouby A, Teyssier C, Vecina F, Marchandin H, Granolleras C, Zorgniotti I, Jumas-Bilak E
 タイトル      Acetobacter cibinongensis bacteremia in human.
 雑誌        Emerg Infect Dis 13:784-5 (2007)
 DOI:<a href=""https://doi.org/10.3201/eid1305.060532"">10.3201/eid1305.060532</a>"
H01170,"シャルルヴォア・サグエ型痙性失調症
 上位グループ    家族性痙性失調症 [DS:H01351]
 脊髄小脳変性症 [DS:H01616]",,,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized by spasticity, ataxia, polyneuropathy, retinal changes, and in some cases late cognitive decline. Patients demonstrate an unsteady gait and experience frequent falls as they learn to walk. ARSACS is caused by mutations in the SACS gene, encoding a large protein sacsin. A recent study demonstrated that sacsin may interact with the Hsp70 chaperone machinery, which is an important component of the cellular response towards aggregation prone mutant proteins that are associated with neurodegenerative diseases.",神経系疾患,,SACS [HSA:26278] [KO:K17592],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.1
 MeSH: C536787
 OMIM: 270550","PMID:21450511
 著者        Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
 タイトル      Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
 雑誌        Parkinsonism Relat Disord 17:418-22 (2011)
 DOI:10.1016/j.parkreldis.2011.03.005
 PMID:21665375
 著者        Gazulla J, Vela AC, Marin MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintore M, Berciano J
 タイトル      Is the ataxia of Charlevoix-Saguenay a developmental disease?
 雑誌        Med Hypotheses 77:347-52 (2011)
 DOI:10.1016/j.mehy.2011.05.011
 PMID:22307627
 著者        Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS
 タイトル      Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
 雑誌        Proc Natl Acad Sci U S A 109:1661-6 (2012)
 DOI:10.1073/pnas.1113166109
 PMID:20970105 (SPAX4)
 著者        Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN
 タイトル      Defective mitochondrial mRNA maturation is associated with spastic ataxia.
 雑誌        Am J Hum Genet 87:655-60 (2010)
 DOI:10.1016/j.ajhg.2010.09.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01170"">H01170</a>","シャルルヴォア・サグエ型痙性失調症
 上位グループ    家族性痙性失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01351"">H01351</a>]
 脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized by spasticity, ataxia, polyneuropathy, retinal changes, and in some cases late cognitive decline. Patients demonstrate an unsteady gait and experience frequent falls as they learn to walk. ARSACS is caused by mutations in the SACS gene, encoding a large protein sacsin. A recent study demonstrated that sacsin may interact with the Hsp70 chaperone machinery, which is an important component of the cellular response towards aggregation prone mutant proteins that are associated with neurodegenerative diseases.",,"SACS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26278"">26278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17592"">K17592</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536787"">C536787</a>
 OMIM: <a href=""https://www.omim.org/entry/270550"">270550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21450511"">21450511</a>
 著者        Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
 タイトル      Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
 雑誌        Parkinsonism Relat Disord 17:418-22 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.parkreldis.2011.03.005"">10.1016/j.parkreldis.2011.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21665375"">21665375</a>
 著者        Gazulla J, Vela AC, Marin MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintore M, Berciano J
 タイトル      Is the ataxia of Charlevoix-Saguenay a developmental disease?
 雑誌        Med Hypotheses 77:347-52 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.mehy.2011.05.011"">10.1016/j.mehy.2011.05.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22307627"">22307627</a>
 著者        Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS
 タイトル      Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
 雑誌        Proc Natl Acad Sci U S A 109:1661-6 (2012)
 DOI:<a href=""https://doi.org/10.1073/pnas.1113166109"">10.1073/pnas.1113166109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20970105"">20970105</a> (SPAX4)
 著者        Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN
 タイトル      Defective mitochondrial mRNA maturation is associated with spastic ataxia.
 雑誌        Am J Hum Genet 87:655-60 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.013"">10.1016/j.ajhg.2010.09.013</a>"
H01171,Poor drug metabolism,,,"Many administered drugs are first activated by phase I drug-metabolizing enzymes, such as cytochrome P450 (CYP). There are some defective activity mutants due to CYP polymorphisms. In these cases, drugs are not metabolized, the high drug levels in blood are maintained, and toxic effects appear in the patients.",先天性代謝異常症,,"CYP2C19 [HSA:1557] [KO:K17721]
 CYP2D6 [HSA:1565] [KO:K17712]",,,,,"In Caucasians and Asians, PM and allele frequency levels of CYPs (CYP2A6, CYP2C9, CYP2C19, CYP2D6, and CYP3A4) are summarized from previous findings.","MeSH: C563703 C563835
 OMIM: 609535 608902","PMID:12959412
 著者        Mizutani T
 タイトル      PM frequencies of major CYPs in Asians and Caucasians.
 雑誌        Drug Metab Rev 35:99-106 (2003)
 DOI:10.1081/DMR-120023681
 PMID:12879168
 著者        Gaikovitch EA, Cascorbi I, Mrozikiewicz PM, Brockmoller J, Frotschl R, Kopke K, Gerloff T, Chernov JN, Roots I
 タイトル      Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.
 雑誌        Eur J Clin Pharmacol 59:303-12 (2003)
 DOI:10.1007/s00228-003-0606-2
 PMID:9093256
 著者        Kaneko A, Kaneko O, Taleo G, Bjorkman A, Kobayakawa T
 タイトル      High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu.
 雑誌        Lancet 349:921-2 (1997)
 DOI:10.1016/S0140-6736(05)62696-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01171"">H01171</a>",Poor drug metabolism,"Many administered drugs are first activated by phase I drug-metabolizing enzymes, such as cytochrome P450 (CYP). There are some defective activity mutants due to CYP polymorphisms. In these cases, drugs are not metabolized, the high drug levels in blood are maintained, and toxic effects appear in the patients.",,"CYP2C19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1557"">1557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17721"">K17721</a>]
 CYP2D6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1565"">1565</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17712"">K17712</a>]",,,,,"In Caucasians and Asians, PM and allele frequency levels of CYPs (CYP2A6, CYP2C9, CYP2C19, CYP2D6, and CYP3A4) are summarized from previous findings.","MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563703"">C563703</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563835"">C563835</a>
 OMIM: <a href=""https://www.omim.org/entry/609535"">609535</a> <a href=""https://www.omim.org/entry/608902"">608902</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12959412"">12959412</a>
 著者        Mizutani T
 タイトル      PM frequencies of major CYPs in Asians and Caucasians.
 雑誌        Drug Metab Rev 35:99-106 (2003)
 DOI:<a href=""https://doi.org/10.1081/DMR-120023681"">10.1081/DMR-120023681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12879168"">12879168</a>
 著者        Gaikovitch EA, Cascorbi I, Mrozikiewicz PM, Brockmoller J, Frotschl R, Kopke K, Gerloff T, Chernov JN, Roots I
 タイトル      Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.
 雑誌        Eur J Clin Pharmacol 59:303-12 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00228-003-0606-2"">10.1007/s00228-003-0606-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9093256"">9093256</a>
 著者        Kaneko A, Kaneko O, Taleo G, Bjorkman A, Kobayakawa T
 タイトル      High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu.
 雑誌        Lancet 349:921-2 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(05)62696-7"">10.1016/S0140-6736(05)62696-7</a>"
H01172,乳児期発症上行性遺伝性痙性対麻痺,,,"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic lateral sclerosis (JALS) [DS:H00058] and juvenile primary lateral sclerosis (JPLS) [DS:H00970]. IAHSP can be distinguished from those two disorders by the association of an infantile onset, at the age of walking achievement, with an ascending progression during childhood but a long survival during adulthood.",神経系疾患,,ALS2 [HSA:57679] [KO:K04575],,,,,,"ICD-11: 8B44.0Y
 ICD-10: G12.2
 MeSH: C537217
 OMIM: 607225","PMID:12145748
 著者        Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O
 タイトル      Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
 雑誌        Am J Hum Genet 71:518-27 (2002)
 DOI:10.1086/342359
 PMID:18810511
 著者        Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Muller U
 タイトル      Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A&gt;T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
 雑誌        Neurogenetics 10:59-64 (2009)
 DOI:10.1007/s10048-008-0148-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01172"">H01172</a>",乳児期発症上行性遺伝性痙性対麻痺,"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic lateral sclerosis (JALS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00058"">H00058</a>] and juvenile primary lateral sclerosis (JPLS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00970]."">H00970].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:IAHSP"">IAHSP</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:distinguished"">distinguished</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:those"">those</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:two"">two</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disorders"">disorders</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:association"">association</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infantile"">infantile</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:onset,"">onset,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:at"">at</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:age"">age</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:walking"">walking</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:achievement,"">achievement,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ascending"">ascending</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:progression"">progression</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:during"">during</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:childhood"">childhood</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:long"">long</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:survival"">survival</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:during"">during</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adulthood."">adulthood.</a>",,"ALS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57679"">57679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04575"">K04575</a>]",,,,,,"ICD-11: 8B44.0Y
 ICD-10: G12.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537217"">C537217</a>
 OMIM: <a href=""https://www.omim.org/entry/607225"">607225</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12145748"">12145748</a>
 著者        Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O
 タイトル      Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
 雑誌        Am J Hum Genet 71:518-27 (2002)
 DOI:<a href=""https://doi.org/10.1086/342359"">10.1086/342359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18810511"">18810511</a>
 著者        Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Muller U
 タイトル      Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A&gt;T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
 雑誌        Neurogenetics 10:59-64 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10048-008-0148-y"">10.1007/s10048-008-0148-y</a>"
H01173,Stiff skin syndrome,,,"Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.",皮膚疾患,,FBN1 [HSA:2200] [KO:K06825],,,,,,"ICD-11: EE6Y
 MeSH: C566112
 OMIM: 184900","PMID:18936399
 著者        Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
 タイトル      The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
 雑誌        Arch Dermatol 144:1351-9 (2008)
 DOI:10.1001/archderm.144.10.1351
 PMID:16836505
 著者        Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S
 タイトル      Stiff skin syndrome.
 雑誌        J Eur Acad Dermatol Venereol 20:729-32 (2006)
 DOI:10.1111/j.1468-3083.2006.01619.x
 PMID:20375004
 著者        Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC
 タイトル      Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
 雑誌        Sci Transl Med 2:23ra20 (2010)
 DOI:10.1126/scitranslmed.3000488","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01173"">H01173</a>",Stiff skin syndrome,"Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.",,"FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]",,,,,,"ICD-11: EE6Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566112"">C566112</a>
 OMIM: <a href=""https://www.omim.org/entry/184900"">184900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18936399"">18936399</a>
 著者        Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
 タイトル      The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
 雑誌        Arch Dermatol 144:1351-9 (2008)
 DOI:<a href=""https://doi.org/10.1001/archderm.144.10.1351"">10.1001/archderm.144.10.1351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16836505"">16836505</a>
 著者        Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S
 タイトル      Stiff skin syndrome.
 雑誌        J Eur Acad Dermatol Venereol 20:729-32 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2006.01619.x"">10.1111/j.1468-3083.2006.01619.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20375004"">20375004</a>
 著者        Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC
 タイトル      Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
 雑誌        Sci Transl Med 2:23ra20 (2010)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.3000488"">10.1126/scitranslmed.3000488</a>"
H01174,"先天性下痢症
 下位グループ    先天性クロール下痢症 (DIAR1)
 先天性微絨毛萎縮症 (DIAR2)
 先天性ナトリウム下痢症 (DIAR3)
 先天性吸収不良症 (DIAR4)
 先天性タフティング腸疾患 (DIAR5)",,,"Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.",消化器系疾患,,"(DIAR1) SLC26A3 [HSA:1811] [KO:K14078]
 (DIAR2) MYO5B [HSA:4645] [KO:K10357]
 (DIAR3) SPINT2 [HSA:10653] [KO:K23421]
 (DIAR4) NEUROG3 [HSA:50674] [KO:K08028]
 (DIAR5) EPCAM [HSA:4072] [KO:K06737]
 (DIAR6) GUCY2C [HSA:2984] [KO:K12320]
 (DIAR7) DGAT1 [HSA:8694] [KO:K11155]
 (DIAR8) SLC9A3 [HSA:6550] [KO:K12040]
 (DIAR9) WNT2B [HSA:7482] [KO:K00182]
 (DIAR10) PLVAP [HSA:83483] [KO:K17309]
 (DIAR11) PERCC1 [HSA:105371045]",,,,,,"ICD-11: KB8C
 ICD-10: P78.3
 MeSH: C536210 C537470 C562576
 OMIM: 214700 251850 270420 610370 613217 614616 615863 616868 618168 618183 618662","PMID:20216094
 著者        Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G
 タイトル      Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.
 雑誌        J Pediatr Gastroenterol Nutr 50:360-6 (2010)
 DOI:10.1097/MPG.0b013e3181d135ef
 PMID:21199752
 著者        Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W
 タイトル      Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea.
 雑誌        Taiwan J Obstet Gynecol 49:487-94 (2010)
 DOI:10.1016/S1028-4559(10)60102-7
 PMID:22436048
 著者        Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM
 タイトル      Familial diarrhea syndrome caused by an activating GUCY2C mutation.
 雑誌        N Engl J Med 366:1586-95 (2012)
 DOI:10.1056/NEJMoa1110132
 PMID:23114594
 著者        Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr
 タイトル      DGAT1 mutation is linked to a congenital diarrheal disorder.
 雑誌        J Clin Invest 122:4680-4 (2012)
 DOI:10.1172/JCI64873
 PMID:26358773
 著者        Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Muller T
 タイトル      Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
 雑誌        Hum Mol Genet 24:6614-23 (2015)
 DOI:10.1093/hmg/ddv367
 PMID:29909964
 著者        O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB
 タイトル      Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
 雑誌        Am J Hum Genet 103:131-137 (2018)
 DOI:10.1016/j.ajhg.2018.05.007
 PMID:26207260
 著者        Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM
 タイトル      Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
 雑誌        Cell Mol Gastroenterol Hepatol 1:381-394.e7 (2015)
 DOI:10.1016/j.jcmgh.2015.05.001
 PMID:31217582
 著者        Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA
 タイトル      Noncoding deletions reveal a gene that is critical for intestinal function.
 雑誌        Nature 571:107-111 (2019)
 DOI:10.1038/s41586-019-1312-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01174"">H01174</a>","先天性下痢症
 下位グループ    先天性クロール下痢症 (DIAR1)
 先天性微絨毛萎縮症 (DIAR2)
 先天性ナトリウム下痢症 (DIAR3)
 先天性吸収不良症 (DIAR4)
 先天性タフティング腸疾患 (DIAR5)","Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.",,"(DIAR1) SLC26A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1811"">1811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14078"">K14078</a>]
 (DIAR2) MYO5B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4645"">4645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10357"">K10357</a>]
 (DIAR3) SPINT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10653"">10653</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23421"">K23421</a>]
 (DIAR4) NEUROG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50674"">50674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08028"">K08028</a>]
 (DIAR5) EPCAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4072"">4072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06737"">K06737</a>]
 (DIAR6) GUCY2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2984"">2984</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12320"">K12320</a>]
 (DIAR7) DGAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8694"">8694</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11155"">K11155</a>]
 (DIAR8) SLC9A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6550"">6550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12040"">K12040</a>]
 (DIAR9) WNT2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7482"">7482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00182"">K00182</a>]
 (DIAR10) PLVAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83483"">83483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17309"">K17309</a>]
 (DIAR11) PERCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:105371045"">105371045</a>]",,,,,,"ICD-11: KB8C
 ICD-10: P78.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536210"">C536210</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537470"">C537470</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562576"">C562576</a>
 OMIM: <a href=""https://www.omim.org/entry/214700"">214700</a> <a href=""https://www.omim.org/entry/251850"">251850</a> <a href=""https://www.omim.org/entry/270420"">270420</a> <a href=""https://www.omim.org/entry/610370"">610370</a> <a href=""https://www.omim.org/entry/613217"">613217</a> <a href=""https://www.omim.org/entry/614616"">614616</a> <a href=""https://www.omim.org/entry/615863"">615863</a> <a href=""https://www.omim.org/entry/616868"">616868</a> <a href=""https://www.omim.org/entry/618168"">618168</a> <a href=""https://www.omim.org/entry/618183"">618183</a> <a href=""https://www.omim.org/entry/618662"">618662</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20216094"">20216094</a>
 著者        Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G
 タイトル      Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.
 雑誌        J Pediatr Gastroenterol Nutr 50:360-6 (2010)
 DOI:<a href=""https://doi.org/10.1097/MPG.0b013e3181d135ef"">10.1097/MPG.0b013e3181d135ef</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21199752"">21199752</a>
 著者        Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W
 タイトル      Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea.
 雑誌        Taiwan J Obstet Gynecol 49:487-94 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1028-4559(10)60102-7"">10.1016/S1028-4559(10)60102-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22436048"">22436048</a>
 著者        Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM
 タイトル      Familial diarrhea syndrome caused by an activating GUCY2C mutation.
 雑誌        N Engl J Med 366:1586-95 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1110132"">10.1056/NEJMoa1110132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23114594"">23114594</a>
 著者        Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr
 タイトル      DGAT1 mutation is linked to a congenital diarrheal disorder.
 雑誌        J Clin Invest 122:4680-4 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI64873"">10.1172/JCI64873</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26358773"">26358773</a>
 著者        Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Muller T
 タイトル      Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
 雑誌        Hum Mol Genet 24:6614-23 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv367"">10.1093/hmg/ddv367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29909964"">29909964</a>
 著者        O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB
 タイトル      Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
 雑誌        Am J Hum Genet 103:131-137 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.05.007"">10.1016/j.ajhg.2018.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26207260"">26207260</a>
 著者        Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM
 タイトル      Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
 雑誌        Cell Mol Gastroenterol Hepatol 1:381-394.e7 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jcmgh.2015.05.001"">10.1016/j.jcmgh.2015.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31217582"">31217582</a>
 著者        Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA
 タイトル      Noncoding deletions reveal a gene that is critical for intestinal function.
 雑誌        Nature 571:107-111 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41586-019-1312-2"">10.1038/s41586-019-1312-2</a>"
H01175,ブドウ球菌感染症,,,"Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus found on the human skin. It can cause infections at many sites including superficial skin infections, bacteremia, endocarditis, osteomyelitis, and breast abscess. Endocarditis caused by S. lugdunensis can lead to substantial morbidity and mortality. Secondly, Staphylococcus haemolyticus, found among the normal skin flora, is commonly isolated from the axillae, perineum, and inguinal areas of humans and causes septicemia, peritonitis, otitis, and urinary tract infections. S. haemolyticus is notorious for its multidrug resistance and historically early acquisition of resistance to methicillin and glycopeptide antibiotics. Finally, Staphylococcus pseudintermedius is an important opportunistic pathogen of dogs and cats. S. pseudintermedius colonization is very uncommon in humans. It is rarely isolated from human dog-bite wounds. The infection has been associated with wide range of symptoms such as bacteremia, a brain abscess, and pneumonia.",感染症,,,"Staphylococcus lugdunensis [GN:slg sln]
 Staphylococcus haemolyticus [GN:sha]
 Staphylococcus pseudintermedius",,,,"Treatment was most commonly initiated with vancomycin and narrowed as antibiotic susceptibilities allowed.
 Methicillin resistance has been reported.","ICD-11: 1A10
 ICD-10: A41.1
 MeSH: D013203","PMID:21886051 (description, pathogen, drug)
 著者        Klotchko A, Wallace MR, Licitra C, Sieger B
 タイトル      Staphylococcus lugdunensis: an emerging pathogen.
 雑誌        South Med J 104:509-14 (2011)
 DOI:10.1097/SMJ.0b013e31821e91b1
 PMID:21195974 (description, pathogen, drug)
 著者        Liu PY, Huang YF, Tang CW, Chen YY, Hsieh KS, Ger LP, Chen YS, Liu YC
 タイトル      Staphylococcus lugdunensis infective endocarditis: a literature review and analysis of risk factors.
 雑誌        J Microbiol Immunol Infect 43:478-84 (2010)
 DOI:10.1016/S1684-1182(10)60074-6
 PMID:20434383 (description, pathogen)
 著者        Chopra A, Gulati D, Woldenberg N, Singh M
 タイトル      Intracardiac lead endocarditis due to Staphylococcus lugdunensis.
 雑誌        Int J Infect Dis 14 Suppl 3:e291-3 (2010)
 DOI:10.1016/j.ijid.2009.12.008
 PMID:19447659 (marker)
 著者        Pada S, Lye DC, Leo YS, Barkham T
 タイトル      Utility of 16S ribosomal DNA sequencing in the diagnosis of Staphylococcus lugdunensis native valve infective endocarditis: case report and literature review.
 雑誌        Int J Infect Dis 13:e511-3 (2009)
 DOI:10.1016/j.ijid.2009.02.019
 PMID:21930571 (descirption, pathogen)
 著者        van Duijkeren E, Catry B, Greko C, Moreno MA, Pomba MC, Pyorala S, Ruzauskas M, Sanders P, Threlfall EJ, Torren-Edo J, Torneke K
 タイトル      Review on methicillin-resistant Staphylococcus pseudintermedius.
 雑誌        J Antimicrob Chemother 66:2705-14 (2011)
 DOI:10.1093/jac/dkr367
 PMID:20178486 (descirpiton, pathogen)
 著者        Fitzgerald JR
 タイトル      The Staphylococcus intermedius group of bacterial pathogens: species re-classification, pathogenesis and the emergence of meticillin resistance.
 雑誌        Vet Dermatol 20:490-5 (2009)
 DOI:10.1111/j.1365-3164.2009.00828.x
 PMID:19246166
 著者        Weese JS, van Duijkeren E
 タイトル      Methicillin-resistant Staphylococcus aureus and Staphylococcus pseudintermedius in veterinary medicine.
 雑誌        Vet Microbiol 140:418-29 (2010)
 DOI:10.1016/j.vetmic.2009.01.039
 PMID:16237012
 著者        Takeuchi F, Watanabe S, Baba T, Yuzawa H, Ito T, Morimoto Y, Kuroda M, Cui L, Takahashi M, Ankai A, Baba S, Fukui S, Lee JC, Hiramatsu K.
 タイトル      Whole-genome sequencing of staphylococcus haemolyticus uncovers the extreme plasticity of its genome and the evolution of human-colonizing staphylococcal species.
 雑誌        J Bacteriol 187:7292-308 (2005)
 DOI:10.1128/JB.187.21.7292-7308.2005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01175"">H01175</a>",ブドウ球菌感染症,"Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus found on the human skin. It can cause infections at many sites including superficial skin infections, bacteremia, endocarditis, osteomyelitis, and breast abscess. Endocarditis caused by S. lugdunensis can lead to substantial morbidity and mortality. Secondly, Staphylococcus haemolyticus, found among the normal skin flora, is commonly isolated from the axillae, perineum, and inguinal areas of humans and causes septicemia, peritonitis, otitis, and urinary tract infections. S. haemolyticus is notorious for its multidrug resistance and historically early acquisition of resistance to methicillin and glycopeptide antibiotics. Finally, Staphylococcus pseudintermedius is an important opportunistic pathogen of dogs and cats. S. pseudintermedius colonization is very uncommon in humans. It is rarely isolated from human dog-bite wounds. The infection has been associated with wide range of symptoms such as bacteremia, a brain abscess, and pneumonia.",,,"Staphylococcus lugdunensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:slg"">slg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sln"">sln</a>]
 Staphylococcus haemolyticus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sha"">sha</a>]
 Staphylococcus pseudintermedius",,,,"Treatment was most commonly initiated with vancomycin and narrowed as antibiotic susceptibilities allowed.
 Methicillin resistance has been reported.","ICD-11: 1A10
 ICD-10: A41.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013203"">D013203</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21886051"">21886051</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Klotchko A, Wallace MR, Licitra C, Sieger B
 タイトル      Staphylococcus lugdunensis: an emerging pathogen.
 雑誌        South Med J 104:509-14 (2011)
 DOI:<a href=""https://doi.org/10.1097/SMJ.0b013e31821e91b1"">10.1097/SMJ.0b013e31821e91b1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21195974"">21195974</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Liu PY, Huang YF, Tang CW, Chen YY, Hsieh KS, Ger LP, Chen YS, Liu YC
 タイトル      Staphylococcus lugdunensis infective endocarditis: a literature review and analysis of risk factors.
 雑誌        J Microbiol Immunol Infect 43:478-84 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1684-1182(10)60074-6"">10.1016/S1684-1182(10)60074-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20434383"">20434383</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Chopra A, Gulati D, Woldenberg N, Singh M
 タイトル      Intracardiac lead endocarditis due to Staphylococcus lugdunensis.
 雑誌        Int J Infect Dis 14 Suppl 3:e291-3 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2009.12.008"">10.1016/j.ijid.2009.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19447659"">19447659</a> (marker)
 著者        Pada S, Lye DC, Leo YS, Barkham T
 タイトル      Utility of 16S ribosomal DNA sequencing in the diagnosis of Staphylococcus lugdunensis native valve infective endocarditis: case report and literature review.
 雑誌        Int J Infect Dis 13:e511-3 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2009.02.019"">10.1016/j.ijid.2009.02.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21930571"">21930571</a> (descirption, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        van Duijkeren E, Catry B, Greko C, Moreno MA, Pomba MC, Pyorala S, Ruzauskas M, Sanders P, Threlfall EJ, Torren-Edo J, Torneke K
 タイトル      Review on methicillin-resistant Staphylococcus pseudintermedius.
 雑誌        J Antimicrob Chemother 66:2705-14 (2011)
 DOI:<a href=""https://doi.org/10.1093/jac/dkr367"">10.1093/jac/dkr367</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20178486"">20178486</a> (descirpiton, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Fitzgerald JR
 タイトル      The Staphylococcus intermedius group of bacterial pathogens: species re-classification, pathogenesis and the emergence of meticillin resistance.
 雑誌        Vet Dermatol 20:490-5 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-3164.2009.00828.x"">10.1111/j.1365-3164.2009.00828.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246166"">19246166</a>
 著者        Weese JS, van Duijkeren E
 タイトル      Methicillin-resistant Staphylococcus aureus and Staphylococcus pseudintermedius in veterinary medicine.
 雑誌        Vet Microbiol 140:418-29 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.01.039"">10.1016/j.vetmic.2009.01.039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16237012"">16237012</a>
 著者        Takeuchi F, Watanabe S, Baba T, Yuzawa H, Ito T, Morimoto Y, Kuroda M, Cui L, Takahashi M, Ankai A, Baba S, Fukui S, Lee JC, Hiramatsu K.
 タイトル      Whole-genome sequencing of staphylococcus haemolyticus uncovers the extreme plasticity of its genome and the evolution of human-colonizing staphylococcal species.
 雑誌        J Bacteriol 187:7292-308 (2005)
 DOI:<a href=""https://doi.org/10.1128/JB.187.21.7292-7308.2005"">10.1128/JB.187.21.7292-7308.2005</a>"
H01176,単純性尿路感染,,,"Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen and frequently isolated from young female outpatients presenting with uncomplicated urinary tract infections. S. saprophyticus causes uncomplicated urinary tract infection (UTI) but no severe bacterial infectious disease as caused by S. aureus. The urease of S. saprophyticus is known to be a virulent factor for the persistent infection in the urinary tract. All of the virulence factors of S. aureus, such as coagulase, hemolysins, enterotoxins, extracellular matrixbinding proteins, and exoenzymes, are absent in the S. saprophyticus genome. Besides S. saprophyticus is a leading gram-positive uropathogen of uncomplicated UTI, a restricted group of gram-negative bacteria, including Escherichia coli, Proteus mirabilis, and Klebsiella spp. is often observed to cause uncomplicated UTI.",感染症,,,"Staphylococcus saprophyticus [GN:ssp]
 Mammaliicoccus lentus [GN:mlen]",,,,,"ICD-11: GC08
 ICD-10: B95 N39
 MeSH: D013203 D014552
 MedlinePlus: 000521","PMID:16135568
 著者        Kuroda M, Yamashita A, Hirakawa H, Kumano M, Morikawa K, Higashide M, Maruyama A, Inose Y, Matoba K, Toh H, Kuhara S, Hattori M, Ohta T.
 タイトル      Whole genome sequence of Staphylococcus saprophyticus reveals the pathogenesis of uncomplicated urinary tract infection.
 雑誌        Proc Natl Acad Sci U S A 102:13272-7 (2005)
 DOI:10.1073/pnas.0502950102","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01176"">H01176</a>",単純性尿路感染,"Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen and frequently isolated from young female outpatients presenting with uncomplicated urinary tract infections. S. saprophyticus causes uncomplicated urinary tract infection (UTI) but no severe bacterial infectious disease as caused by S. aureus. The urease of S. saprophyticus is known to be a virulent factor for the persistent infection in the urinary tract. All of the virulence factors of S. aureus, such as coagulase, hemolysins, enterotoxins, extracellular matrixbinding proteins, and exoenzymes, are absent in the S. saprophyticus genome. Besides S. saprophyticus is a leading gram-positive uropathogen of uncomplicated UTI, a restricted group of gram-negative bacteria, including Escherichia coli, Proteus mirabilis, and Klebsiella spp. is often observed to cause uncomplicated UTI.",,,"Staphylococcus saprophyticus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssp"">ssp</a>]
 Mammaliicoccus lentus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mlen"">mlen</a>]",,,,,"ICD-11: GC08
 ICD-10: B95 N39
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013203"">D013203</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014552"">D014552</a>
 MedlinePlus: 000521","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16135568"">16135568</a>
 著者        Kuroda M, Yamashita A, Hirakawa H, Kumano M, Morikawa K, Higashide M, Maruyama A, Inose Y, Matoba K, Toh H, Kuhara S, Hattori M, Ohta T.
 タイトル      Whole genome sequence of Staphylococcus saprophyticus reveals the pathogenesis of uncomplicated urinary tract infection.
 雑誌        Proc Natl Acad Sci U S A 102:13272-7 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0502950102"">10.1073/pnas.0502950102</a>"
H01177,乳児両側性線条体壊死,,,"Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease.",神経系疾患,,"NUP62 [HSA:23636] [KO:K14306]
 MT-ATP6 [HSA:4508] [KO:K02126]",,,,,A report says oral biotin may have benefited.,"ICD-11: 8D87.01
 ICD-10: G23.2
 MeSH: C537500
 OMIM: 271930 500003","PMID:16786527
 著者        Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M
 タイトル      Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
 雑誌        Ann Neurol 60:214-22 (2006)
 DOI:10.1002/ana.20902
 PMID:14718703
 著者        Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M
 タイトル      Infantile bilateral striatal necrosis maps to chromosome 19q.
 雑誌        Neurology 62:87-90 (2004)
 DOI:10.1212/01.WNL.0000101680.49036.69
 PMID:12374138
 著者        Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J
 タイトル      Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
 雑誌        Neurology 59:983-9 (2002)
 DOI:10.1212/WNL.59.7.983
 PMID:16198210
 著者        Murakami A, Morimoto M, Adachi S, Ishimaru Y, Sugimoto T
 タイトル      Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection.
 雑誌        Brain Dev 27:527-30 (2005)
 DOI:10.1016/j.braindev.2004.12.004
 PMID:7668837
 著者        Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S
 タイトル      A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
 雑誌        Ann Neurol 38:468-72 (1995)
 DOI:10.1002/ana.410380321","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01177"">H01177</a>",乳児両側性線条体壊死,"Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease.",,"NUP62 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23636"">23636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14306"">K14306</a>]
 MT-ATP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4508"">4508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02126"">K02126</a>]",,,,,A report says oral biotin may have benefited.,"ICD-11: 8D87.01
 ICD-10: G23.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537500"">C537500</a>
 OMIM: <a href=""https://www.omim.org/entry/271930"">271930</a> <a href=""https://www.omim.org/entry/500003"">500003</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16786527"">16786527</a>
 著者        Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M
 タイトル      Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
 雑誌        Ann Neurol 60:214-22 (2006)
 DOI:<a href=""https://doi.org/10.1002/ana.20902"">10.1002/ana.20902</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14718703"">14718703</a>
 著者        Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M
 タイトル      Infantile bilateral striatal necrosis maps to chromosome 19q.
 雑誌        Neurology 62:87-90 (2004)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000101680.49036.69"">10.1212/01.WNL.0000101680.49036.69</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12374138"">12374138</a>
 著者        Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J
 タイトル      Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
 雑誌        Neurology 59:983-9 (2002)
 DOI:<a href=""https://doi.org/10.1212/WNL.59.7.983"">10.1212/WNL.59.7.983</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16198210"">16198210</a>
 著者        Murakami A, Morimoto M, Adachi S, Ishimaru Y, Sugimoto T
 タイトル      Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection.
 雑誌        Brain Dev 27:527-30 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2004.12.004"">10.1016/j.braindev.2004.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7668837"">7668837</a>
 著者        Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S
 タイトル      A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
 雑誌        Ann Neurol 38:468-72 (1995)
 DOI:<a href=""https://doi.org/10.1002/ana.410380321"">10.1002/ana.410380321</a>"
H01178,ハエ幼虫症,,,"Myiasis is a parasitic infestation of vital tissue of the skin and mucous membranes by dipterous larvae. Human myiasis is a rare clinic condition but more prevalent in humid tropical and subtropical regions. Myiasis may be classified into three types: (i) primary myiasis in which the larva invades healthy tissue of the host, (ii) secondary myiasis where the adult female is attracted to and lays its eggs on wounded skin, and (iii) accidental myiasis caused by ingestion of contaminated food. Among many species of Diptera that cause larval infection in humans, Dermatobia hominis, the human botfly, is responsible for the painful, boil-like lesion of furuncular myiasis.",感染症,,,"Dermatobia hominis (botfly myiasis)
 Callitroga americana
 Cordylobia anthropophaga
 Oestrus ovis
 Wohlfahrtia spp. (secondary/wound myiasis)
 Calliphora spp. (secondary/wound myiasis)
 Lucilia spp. (secondary/wound myiasis)",,,,,"ICD-11: 1G01
 ICD-10: B87
 MeSH: D009198","PMID:2191797
 著者        Elgart ML
 タイトル      Flies and myiasis.
 雑誌        Dermatol Clin 8:237-44 (1990)
 PMID:22337450
 著者        Bayindir T, Cicek MT, Atambay M, Kizilay A
 タイトル      Cutaneous myiasis in a malignant wound of the head and neck region.
 雑誌        J Craniofac Surg 23:e19-20 (2012)
 DOI:10.1097/SCS.0b013e31824207d3
 PMID:22114438
 著者        Pereira T, Tamgadge AP, Chande MS, Bhalerao S, Tamgadge S
 タイトル      Oral myiasis.
 雑誌        Contemp Clin Dent 1:275-6 (2010)
 DOI:10.4103/0976-237X.76401
 PMID:22124072
 著者        Srivastava R, Devi P, Thimmarasa VB, Jayadev S
 タイトル      Flies blown disease--oral myiasis.
 雑誌        Indian J Dent Res 22:615 (2011)
 DOI:10.4103/0970-9290.90328
 PMID:21876597
 著者        Chakraborti C, Mukhopadhya U, Mondal M, Giri D, Khan M
 タイトル      Ophthalmomyiasis in humans.
 雑誌        Nepal J Ophthalmol 3:193-5 (2011)
 DOI:10.3126/nepjoph.v3i2.5277
 PMID:11216610
 著者        Sampson CE, MaGuire J, Eriksson E
 タイトル      Botfly myiasis: case report and brief review.
 雑誌        Ann Plast Surg 46:150-2 (2001)
 DOI:10.1097/00000637-200102000-00011
 PMID:17350494
 著者        Cestari TF, Pessato S, Ramos-e-Silva M
 タイトル      Tungiasis and myiasis.
 雑誌        Clin Dermatol 25:158-64 (2007)
 DOI:10.1016/j.clindermatol.2006.05.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01178"">H01178</a>",ハエ幼虫症,"Myiasis is a parasitic infestation of vital tissue of the skin and mucous membranes by dipterous larvae. Human myiasis is a rare clinic condition but more prevalent in humid tropical and subtropical regions. Myiasis may be classified into three types: (i) primary myiasis in which the larva invades healthy tissue of the host, (ii) secondary myiasis where the adult female is attracted to and lays its eggs on wounded skin, and (iii) accidental myiasis caused by ingestion of contaminated food. Among many species of Diptera that cause larval infection in humans, Dermatobia hominis, the human botfly, is responsible for the painful, boil-like lesion of furuncular myiasis.",,,"Dermatobia hominis (botfly myiasis)
 Callitroga americana
 Cordylobia anthropophaga
 Oestrus ovis
 Wohlfahrtia spp. (secondary/wound myiasis)
 Calliphora spp. (secondary/wound myiasis)
 Lucilia spp. (secondary/wound myiasis)",,,,,"ICD-11: 1G01
 ICD-10: B87
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009198"">D009198</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2191797"">2191797</a>
 著者        Elgart ML
 タイトル      Flies and myiasis.
 雑誌        Dermatol Clin 8:237-44 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22337450"">22337450</a>
 著者        Bayindir T, Cicek MT, Atambay M, Kizilay A
 タイトル      Cutaneous myiasis in a malignant wound of the head and neck region.
 雑誌        J Craniofac Surg 23:e19-20 (2012)
 DOI:<a href=""https://doi.org/10.1097/SCS.0b013e31824207d3"">10.1097/SCS.0b013e31824207d3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22114438"">22114438</a>
 著者        Pereira T, Tamgadge AP, Chande MS, Bhalerao S, Tamgadge S
 タイトル      Oral myiasis.
 雑誌        Contemp Clin Dent 1:275-6 (2010)
 DOI:<a href=""https://doi.org/10.4103/0976-237X.76401"">10.4103/0976-237X.76401</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22124072"">22124072</a>
 著者        Srivastava R, Devi P, Thimmarasa VB, Jayadev S
 タイトル      Flies blown disease--oral myiasis.
 雑誌        Indian J Dent Res 22:615 (2011)
 DOI:<a href=""https://doi.org/10.4103/0970-9290.90328"">10.4103/0970-9290.90328</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21876597"">21876597</a>
 著者        Chakraborti C, Mukhopadhya U, Mondal M, Giri D, Khan M
 タイトル      Ophthalmomyiasis in humans.
 雑誌        Nepal J Ophthalmol 3:193-5 (2011)
 DOI:<a href=""https://doi.org/10.3126/nepjoph.v3i2.5277"">10.3126/nepjoph.v3i2.5277</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11216610"">11216610</a>
 著者        Sampson CE, MaGuire J, Eriksson E
 タイトル      Botfly myiasis: case report and brief review.
 雑誌        Ann Plast Surg 46:150-2 (2001)
 DOI:<a href=""https://doi.org/10.1097/00000637-200102000-00011"">10.1097/00000637-200102000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17350494"">17350494</a>
 著者        Cestari TF, Pessato S, Ramos-e-Silva M
 タイトル      Tungiasis and myiasis.
 雑誌        Clin Dermatol 25:158-64 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2006.05.004"">10.1016/j.clindermatol.2006.05.004</a>"
H01179,スナノミ症,,,"Tungiasis is a tropical ectoparasitosis caused by the permanent penetration of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring in many Latin American and African countries. The contamination occurs when walking barefoot in the sand.",感染症,,,Tunga penetrans,,,,"Another species, Tunga trimamillata, recently described in Ecuador and Peru, can parasite humans.","ICD-11: 1G05
 ICD-10: B88.1
 MeSH: D058285","PMID:21703785 (description, env_factor)
 著者        Lefebvre M, Capito C, Durant C, Hervier B, Grossi O
 タイトル      Tungiasis: a poorly documented tropical dermatosis.
 雑誌        Med Mal Infect 41:465-8 (2011)
 DOI:10.1016/j.medmal.2011.05.007
 PMID:11348517 (description, env_factor)
 著者        Heukelbach J, de Oliveira FA, Hesse G, Feldmeier H
 タイトル      Tungiasis: a neglected health problem of poor communities.
 雑誌        Trop Med Int Health 6:267-72 (2001)
 DOI:10.1046/j.1365-3156.2001.00716.x
 PMID:16553319 (description, env_factor)
 著者        Heukelbach J
 タイトル      Tungiasis.
 雑誌        Rev Inst Med Trop Sao Paulo 47:307-13 (2005)
 DOI:10.1590/s0036-46652005000600001
 PMID:17350494 (description, env_factor)
 著者        Cestari TF, Pessato S, Ramos-e-Silva M
 タイトル      Tungiasis and myiasis.
 雑誌        Clin Dermatol 25:158-64 (2007)
 DOI:10.1016/j.clindermatol.2006.05.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01179"">H01179</a>",スナノミ症,"Tungiasis is a tropical ectoparasitosis caused by the permanent penetration of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring in many Latin American and African countries. The contamination occurs when walking barefoot in the sand.",,,Tunga penetrans,,,,"Another species, Tunga trimamillata, recently described in Ecuador and Peru, can parasite humans.","ICD-11: 1G05
 ICD-10: B88.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058285"">D058285</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21703785"">21703785</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Lefebvre M, Capito C, Durant C, Hervier B, Grossi O
 タイトル      Tungiasis: a poorly documented tropical dermatosis.
 雑誌        Med Mal Infect 41:465-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.medmal.2011.05.007"">10.1016/j.medmal.2011.05.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11348517"">11348517</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Heukelbach J, de Oliveira FA, Hesse G, Feldmeier H
 タイトル      Tungiasis: a neglected health problem of poor communities.
 雑誌        Trop Med Int Health 6:267-72 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.1365-3156.2001.00716.x"">10.1046/j.1365-3156.2001.00716.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16553319"">16553319</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Heukelbach J
 タイトル      Tungiasis.
 雑誌        Rev Inst Med Trop Sao Paulo 47:307-13 (2005)
 DOI:<a href=""https://doi.org/10.1590/s0036-46652005000600001"">10.1590/s0036-46652005000600001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17350494"">17350494</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Cestari TF, Pessato S, Ramos-e-Silva M
 タイトル      Tungiasis and myiasis.
 雑誌        Clin Dermatol 25:158-64 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2006.05.004"">10.1016/j.clindermatol.2006.05.004</a>"
H01180,"Sveinsson 網脈絡膜萎縮;
 らせん状乳頭周囲脈絡網膜変性",,,"Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral, well defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA have a mutation in the TEAD1 gene.",神経系疾患,,TEAD1 [HSA:7003] [KO:K09448],,,,,,"ICD-11: 9B78.4
 ICD-10: H35.4
 MeSH: C566236
 OMIM: 108985","PMID:17339054
 著者        Jonasson F, Hardarson S, Olafsson BM, Klintworth GK
 タイトル      Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report.
 雑誌        Ophthalmology 114:1541-6 (2007)
 DOI:10.1016/j.ophtha.2006.11.016
 PMID:17689488
 著者        Kitagawa M
 タイトル      A Sveinsson's chorioretinal atrophy-associated missense mutation in mouse Tead1 affects its interaction with the co-factors YAP and TAZ.
 雑誌        Biochem Biophys Res Commun 361:1022-6 (2007)
 DOI:10.1016/j.bbrc.2007.07.129
 PMID:17683515
 著者        Jonasson F, Sander B, Eysteinsson T, Jorgensen T, Klintworth GK
 タイトル      Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction.
 雑誌        Acta Ophthalmol Scand 85:862-7 (2007)
 DOI:10.1111/j.1600-0420.2007.01002.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01180"">H01180</a>","Sveinsson 網脈絡膜萎縮;
 らせん状乳頭周囲脈絡網膜変性","Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral, well defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA have a mutation in the TEAD1 gene.",,"TEAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7003"">7003</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09448"">K09448</a>]",,,,,,"ICD-11: 9B78.4
 ICD-10: H35.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566236"">C566236</a>
 OMIM: <a href=""https://www.omim.org/entry/108985"">108985</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17339054"">17339054</a>
 著者        Jonasson F, Hardarson S, Olafsson BM, Klintworth GK
 タイトル      Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report.
 雑誌        Ophthalmology 114:1541-6 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2006.11.016"">10.1016/j.ophtha.2006.11.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17689488"">17689488</a>
 著者        Kitagawa M
 タイトル      A Sveinsson's chorioretinal atrophy-associated missense mutation in mouse Tead1 affects its interaction with the co-factors YAP and TAZ.
 雑誌        Biochem Biophys Res Commun 361:1022-6 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2007.07.129"">10.1016/j.bbrc.2007.07.129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17683515"">17683515</a>
 著者        Jonasson F, Sander B, Eysteinsson T, Jorgensen T, Klintworth GK
 タイトル      Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction.
 雑誌        Acta Ophthalmol Scand 85:862-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0420.2007.01002.x"">10.1111/j.1600-0420.2007.01002.x</a>"
H01181,T-cell immunodeficiency congenital alopecia and nail dystrophy,,,"T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused by an intrinsic abnormality of the epithelial component of the thymus. The disease is always associated with a profound T-cell defect.",,,FOXN1 [HSA:8456] [KO:K09407],,,,,,"ICD-11: 4A01.1Y
 MeSH: C536781
 OMIM: 601705","PMID:18339010
 著者        Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C
 タイトル      FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.
 雑誌        Clin Genet 73:380-4 (2008)
 DOI:10.1111/j.1399-0004.2008.00977.x
 PMID:15180707
 著者        Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C
 タイトル      Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
 雑誌        Ann Hum Genet 68:265-8 (2004)
 DOI:10.1046/j.1529-8817.2004.00091.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01181"">H01181</a>",T-cell immunodeficiency congenital alopecia and nail dystrophy,"T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused by an intrinsic abnormality of the epithelial component of the thymus. The disease is always associated with a profound T-cell defect.",,"FOXN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8456"">8456</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09407"">K09407</a>]",,,,,,"ICD-11: 4A01.1Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536781"">C536781</a>
 OMIM: <a href=""https://www.omim.org/entry/601705"">601705</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18339010"">18339010</a>
 著者        Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C
 タイトル      FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.
 雑誌        Clin Genet 73:380-4 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.00977.x"">10.1111/j.1399-0004.2008.00977.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15180707"">15180707</a>
 著者        Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C
 タイトル      Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
 雑誌        Ann Hum Genet 68:265-8 (2004)
 DOI:<a href=""https://doi.org/10.1046/j.1529-8817.2004.00091.x"">10.1046/j.1529-8817.2004.00091.x</a>"
H01182,ビオチニダーゼ欠損症,,,"Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.",先天性代謝異常症,,BTD [HSA:686] [KO:K01435],,,,,Early-onset multiple carboxylase deficiency is described in H00180. [DS:H00180],"ICD-11: 5C50.E0
 ICD-10: E53.8
 MeSH: D028921
 OMIM: 253260","PMID:21696988
 著者        Wolf B
 タイトル      The neurology of biotinidase deficiency.
 雑誌        Mol Genet Metab 104:27-34 (2011)
 DOI:10.1016/j.ymgme.2011.06.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01182"">H01182</a>",ビオチニダーゼ欠損症,"Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.",,"BTD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:686"">686</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01435"">K01435</a>]",,,,,"Early-onset multiple carboxylase deficiency is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00180."">H00180.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00180"">H00180</a>]","ICD-11: 5C50.E0
 ICD-10: E53.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D028921"">D028921</a>
 OMIM: <a href=""https://www.omim.org/entry/253260"">253260</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21696988"">21696988</a>
 著者        Wolf B
 タイトル      The neurology of biotinidase deficiency.
 雑誌        Mol Genet Metab 104:27-34 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.06.001"">10.1016/j.ymgme.2011.06.001</a>"
H01183,ビタミン B1 反応性巨赤芽球性貧血症,,,"Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration, optic atrophy, situs inversus, aminoaciduria, and stroke.",,,SLC19A2 [HSA:10560] [KO:K14610],,,,,,"ICD-11: 5C63.Y
 ICD-10: D53.1
 OMIM: 249270","PMID:21285901
 著者        Aycan Z, Bas VN, Cetinkaya S, Agladioglu SY, Kendirci HN, Senocak F
 タイトル      Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.
 雑誌        J Pediatr Hematol Oncol 33:144-7 (2011)
 DOI:10.1097/MPH.0b013e31820030ae
 PMID:11358373 (description, gene, drug)
 著者        Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP
 タイトル      Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.
 雑誌        Blood Cells Mol Dis 27:135-8 (2001)
 DOI:10.1006/bcmd.2000.0356
 PMID:20835854
 著者        Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F
 タイトル      Thiamine-responsive megaloblastic anemia syndrome.
 雑誌        Int J Hematol 92:524-6 (2010)
 DOI:10.1007/s12185-010-0681-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01183"">H01183</a>",ビタミン B1 反応性巨赤芽球性貧血症,"Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration, optic atrophy, situs inversus, aminoaciduria, and stroke.",,"SLC19A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10560"">10560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14610"">K14610</a>]",,,,,,"ICD-11: 5C63.Y
 ICD-10: D53.1
 OMIM: <a href=""https://www.omim.org/entry/249270"">249270</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21285901"">21285901</a>
 著者        Aycan Z, Bas VN, Cetinkaya S, Agladioglu SY, Kendirci HN, Senocak F
 タイトル      Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.
 雑誌        J Pediatr Hematol Oncol 33:144-7 (2011)
 DOI:<a href=""https://doi.org/10.1097/MPH.0b013e31820030ae"">10.1097/MPH.0b013e31820030ae</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11358373"">11358373</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP
 タイトル      Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.
 雑誌        Blood Cells Mol Dis 27:135-8 (2001)
 DOI:<a href=""https://doi.org/10.1006/bcmd.2000.0356"">10.1006/bcmd.2000.0356</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20835854"">20835854</a>
 著者        Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F
 タイトル      Thiamine-responsive megaloblastic anemia syndrome.
 雑誌        Int J Hematol 92:524-6 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12185-010-0681-y"">10.1007/s12185-010-0681-y</a>"
H01184,家族性認知症,,,"Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI/ ITM2B gene. Familial dementia is characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid deposition, and neurofibrillary tangles.",,,ITM2B [HSA:9445] [KO:K18264],,,,,,"ICD-11: 8B22.3
 ICD-10: G31.0
 MeSH: D003704
 OMIM: 176500 117300","PMID:19779737
 著者        Garringer HJ, Murrell J, D'Adamio L, Ghetti B, Vidal R
 タイトル      Modeling familial British and Danish dementia.
 雑誌        Brain Struct Funct 214:235-44 (2010)
 DOI:10.1007/s00429-009-0221-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01184"">H01184</a>",家族性認知症,"Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI/ ITM2B gene. Familial dementia is characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid deposition, and neurofibrillary tangles.",,"ITM2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9445"">9445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18264"">K18264</a>]",,,,,,"ICD-11: 8B22.3
 ICD-10: G31.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003704"">D003704</a>
 OMIM: <a href=""https://www.omim.org/entry/176500"">176500</a> <a href=""https://www.omim.org/entry/117300"">117300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19779737"">19779737</a>
 著者        Garringer HJ, Murrell J, D'Adamio L, Ghetti B, Vidal R
 タイトル      Modeling familial British and Danish dementia.
 雑誌        Brain Struct Funct 214:235-44 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00429-009-0221-9"">10.1007/s00429-009-0221-9</a>"
H01185,脳アミロイド血管症,,,"Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated with aging, several familial forms of CAA reported to date. Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases. It has also been reported that mutations in APP are linked to CAA.",,,"CST3 [HSA:1471] [KO:K13899]
 APP [HSA:351] [KO:K04520]",,,,,,"ICD-11: 5D00.0
 MeSH: D016657
 OMIM: 105150 605714","PMID:20697050
 著者        Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F
 タイトル      Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
 雑誌        Arch Neurol 67:987-95 (2010)
 DOI:10.1001/archneurol.2010.178
 PMID:16612982
 著者        Palsdottir A, Snorradottir AO, Thorsteinsson L
 タイトル      Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects.
 雑誌        Brain Pathol 16:55-9 (2006)
 DOI:10.1111/j.1750-3639.2006.tb00561.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01185"">H01185</a>",脳アミロイド血管症,"Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated with aging, several familial forms of CAA reported to date. Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases. It has also been reported that mutations in APP are linked to CAA.",,"CST3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1471"">1471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13899"">K13899</a>]
 APP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:351"">351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04520"">K04520</a>]",,,,,,"ICD-11: 5D00.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016657"">D016657</a>
 OMIM: <a href=""https://www.omim.org/entry/105150"">105150</a> <a href=""https://www.omim.org/entry/605714"">605714</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20697050"">20697050</a>
 著者        Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F
 タイトル      Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
 雑誌        Arch Neurol 67:987-95 (2010)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2010.178"">10.1001/archneurol.2010.178</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16612982"">16612982</a>
 著者        Palsdottir A, Snorradottir AO, Thorsteinsson L
 タイトル      Hereditary cystatin C amyloid angiopathy: genetic, clinical, and pathological aspects.
 雑誌        Brain Pathol 16:55-9 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1750-3639.2006.tb00561.x"">10.1111/j.1750-3639.2006.tb00561.x</a>"
H01186,甲状腺ホルモン代謝異常症,,,"Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins. Fibroblasts of affected patients show decreased deiodinase type 2 (DIO2) enzymatic activity not linked to the DIO2 locus.",先天性代謝異常症,,"(THMA1) SECISBP2 [HSA:79048] [KO:K19539]
 (THMA2) DIO1 [HSA:1733] [KO:K01562]",,,,,,"ICD-11: 5A00.0
 ICD-10: E03.8
 MeSH: C566454
 OMIM: 619855 609698","PMID:16228000 (SECISBP2)
 著者        Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S
 タイトル      Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
 雑誌        Nat Genet 37:1247-52 (2005)
 DOI:10.1038/ng1654
 PMID:32718224 (DIO1)
 著者        Franca MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM
 タイトル      Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
 雑誌        Thyroid 31:202-207 (2021)
 DOI:10.1089/thy.2020.0253","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01186"">H01186</a>",甲状腺ホルモン代謝異常症,"Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins. Fibroblasts of affected patients show decreased deiodinase type 2 (DIO2) enzymatic activity not linked to the DIO2 locus.",,"(THMA1) SECISBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79048"">79048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19539"">K19539</a>]
 (THMA2) DIO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1733"">1733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01562"">K01562</a>]",,,,,,"ICD-11: 5A00.0
 ICD-10: E03.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566454"">C566454</a>
 OMIM: <a href=""https://www.omim.org/entry/619855"">619855</a> <a href=""https://www.omim.org/entry/609698"">609698</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16228000"">16228000</a> (SECISBP2)
 著者        Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S
 タイトル      Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
 雑誌        Nat Genet 37:1247-52 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1654"">10.1038/ng1654</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32718224"">32718224</a> (DIO1)
 著者        Franca MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM
 タイトル      Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
 雑誌        Thyroid 31:202-207 (2021)
 DOI:<a href=""https://doi.org/10.1089/thy.2020.0253"">10.1089/thy.2020.0253</a>"
H01187,"Tietz 症候群;
 白皮症・難聴症候群",,,"Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.",皮膚疾患,,MITF [HSA:4286] [KO:K09455],,,,,,"ICD-11: EC23.2Y
 MeSH: C536919
 OMIM: 103500","PMID:16228000
 著者        Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S
 タイトル      Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
 雑誌        Nat Genet 37:1247-52 (2005)
 DOI:10.1038/ng1654
 PMID:19769464
 著者        Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S
 タイトル      The syndrome of inherited partial SBP2 deficiency in humans.
 雑誌        Antioxid Redox Signal 12:905-20 (2010)
 DOI:10.1089/ars.2009.2892
 PMID:10851256
 著者        Smith SD, Kelley PM, Kenyon JB, Hoover D
 タイトル      Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
 雑誌        J Med Genet 37:446-8 (2000)
 DOI:10.1136/jmg.37.6.446
 PMID:9546825
 著者        Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM
 タイトル      Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
 雑誌        Clin Dysmorphol 7:17-20 (1998)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01187"">H01187</a>","Tietz 症候群;
 白皮症・難聴症候群","Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00169],"">H00169],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:includes"">includes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pigmentary"">pigmentary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:changes"">changes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hearing"">hearing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:loss,"">loss,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:contrast"">contrast</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Tietz"">Tietz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome,"">syndrome,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:depigmentation"">depigmentation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patchy"">patchy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hearing"">hearing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:loss"">loss</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:variable"">variable</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:WS2."">WS2.</a>",,"MITF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4286"">4286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09455"">K09455</a>]",,,,,,"ICD-11: EC23.2Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536919"">C536919</a>
 OMIM: <a href=""https://www.omim.org/entry/103500"">103500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16228000"">16228000</a>
 著者        Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S
 タイトル      Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
 雑誌        Nat Genet 37:1247-52 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1654"">10.1038/ng1654</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19769464"">19769464</a>
 著者        Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S
 タイトル      The syndrome of inherited partial SBP2 deficiency in humans.
 雑誌        Antioxid Redox Signal 12:905-20 (2010)
 DOI:<a href=""https://doi.org/10.1089/ars.2009.2892"">10.1089/ars.2009.2892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10851256"">10851256</a>
 著者        Smith SD, Kelley PM, Kenyon JB, Hoover D
 タイトル      Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
 雑誌        J Med Genet 37:446-8 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.6.446"">10.1136/jmg.37.6.446</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9546825"">9546825</a>
 著者        Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM
 タイトル      Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
 雑誌        Clin Dysmorphol 7:17-20 (1998)"
H01188,Tn 症候群,,,"Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen is terminal alpha-N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue. The defect may be due to a malfunction of the glycosylating enzyme T-synthase. Tn syndrome is associated with a somatic mutation in Cosmc gene, encoding a molecular chaperone that is required for the proper folding and hence full activity of T-synthase.",血液疾患,,COSMC [HSA:29071] [KO:K09653],,,,,,"ICD-11: 5C54.1
 MeSH: C562719
 OMIM: 300622","PMID:16251947
 著者        Ju T, Cummings RD
 タイトル      Protein glycosylation: chaperone mutation in Tn syndrome.
 雑誌        Nature 437:1252 (2005)
 DOI:10.1038/4371252a
 PMID:21259410
 著者        Ju T, Otto VI, Cummings RD
 タイトル      The Tn antigen-structural simplicity and biological complexity.
 雑誌        Angew Chem Int Ed Engl 50:1770-91 (2011)
 DOI:10.1002/anie.201002313
 PMID:10571017
 著者        Berger EG
 タイトル      Tn-syndrome.
 雑誌        Biochim Biophys Acta 1455:255-68 (1999)
 DOI:10.1016/S0925-4439(99)00069-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01188"">H01188</a>",Tn 症候群,"Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen is terminal alpha-N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue. The defect may be due to a malfunction of the glycosylating enzyme T-synthase. Tn syndrome is associated with a somatic mutation in Cosmc gene, encoding a molecular chaperone that is required for the proper folding and hence full activity of T-synthase.",,"COSMC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29071"">29071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09653"">K09653</a>]",,,,,,"ICD-11: 5C54.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562719"">C562719</a>
 OMIM: <a href=""https://www.omim.org/entry/300622"">300622</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16251947"">16251947</a>
 著者        Ju T, Cummings RD
 タイトル      Protein glycosylation: chaperone mutation in Tn syndrome.
 雑誌        Nature 437:1252 (2005)
 DOI:<a href=""https://doi.org/10.1038/4371252a"">10.1038/4371252a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21259410"">21259410</a>
 著者        Ju T, Otto VI, Cummings RD
 タイトル      The Tn antigen-structural simplicity and biological complexity.
 雑誌        Angew Chem Int Ed Engl 50:1770-91 (2011)
 DOI:<a href=""https://doi.org/10.1002/anie.201002313"">10.1002/anie.201002313</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10571017"">10571017</a>
 著者        Berger EG
 タイトル      Tn-syndrome.
 雑誌        Biochim Biophys Acta 1455:255-68 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(99)00069-1"">10.1016/S0925-4439(99)00069-1</a>"
H01189,トランスアルドラーゼ欠乏症,,,"Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes the PPP. The severity of the symptoms can vary, ranging from fetal hydrops to slowly progressive liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart problems. The biochemical profile indicates an elevated level of erythritol, arabitol, ribitol, sedoheptitol, perseitol, sedoheptulose, mannoheptulose, and sedoheptulose-7P. The disorder is caused by mutations in the TALDO gene.",先天性代謝異常症,,TALDO1 [HSA:6888] [KO:K00616],,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 MeSH: C563207
 OMIM: 606003","PMID:19401148
 著者        Samland AK, Sprenger GA
 タイトル      Transaldolase: from biochemistry to human disease.
 雑誌        Int J Biochem Cell Biol 41:1482-94 (2009)
 DOI:10.1016/j.biocel.2009.02.001
 PMID:17613166
 著者        Perl A
 タイトル      The pathogenesis of transaldolase deficiency.
 雑誌        IUBMB Life 59:365-73 (2007)
 DOI:10.1080/15216540701387188
 PMID:21119539
 著者        Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT
 タイトル      Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
 雑誌        J Pediatr Gastroenterol Nutr 52:113-6 (2011)
 DOI:10.1097/MPG.0b013e3181f50388","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01189"">H01189</a>",トランスアルドラーゼ欠乏症,"Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes the PPP. The severity of the symptoms can vary, ranging from fetal hydrops to slowly progressive liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart problems. The biochemical profile indicates an elevated level of erythritol, arabitol, ribitol, sedoheptitol, perseitol, sedoheptulose, mannoheptulose, and sedoheptulose-7P. The disorder is caused by mutations in the TALDO gene.",,"TALDO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6888"">6888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00616"">K00616</a>]",,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563207"">C563207</a>
 OMIM: <a href=""https://www.omim.org/entry/606003"">606003</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19401148"">19401148</a>
 著者        Samland AK, Sprenger GA
 タイトル      Transaldolase: from biochemistry to human disease.
 雑誌        Int J Biochem Cell Biol 41:1482-94 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2009.02.001"">10.1016/j.biocel.2009.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17613166"">17613166</a>
 著者        Perl A
 タイトル      The pathogenesis of transaldolase deficiency.
 雑誌        IUBMB Life 59:365-73 (2007)
 DOI:<a href=""https://doi.org/10.1080/15216540701387188"">10.1080/15216540701387188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21119539"">21119539</a>
 著者        Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT
 タイトル      Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
 雑誌        J Pediatr Gastroenterol Nutr 52:113-6 (2011)
 DOI:<a href=""https://doi.org/10.1097/MPG.0b013e3181f50388"">10.1097/MPG.0b013e3181f50388</a>"
H01190,トランスコバラミン II 欠乏症,,,"Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause.",先天性代謝異常症,,TCN2 [HSA:6948] [KO:K14619],,,,,,"ICD-11: 3A01.0
 ICD-10: D51.2
 OMIM: 275350","PMID:20352340
 著者        Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S
 タイトル      Should transcobalamin deficiency be treated aggressively?
 雑誌        J Inherit Metab Dis 33:223-9 (2010)
 DOI:10.1007/s10545-010-9074-x
 PMID:19581117 (description, gene, drug)
 著者        Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Muhl A, Fowler B, Nexo E, Bodamer OA
 タイトル      Transcobalamin II deficiency at birth.
 雑誌        Mol Genet Metab 98:285-8 (2009)
 DOI:10.1016/j.ymgme.2009.06.003
 PMID:18956254
 著者        Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA
 タイトル      Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.
 雑誌        J Inherit Metab Dis 31 Suppl 2:S287-92 (2008)
 DOI:10.1007/s10545-008-0864-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01190"">H01190</a>",トランスコバラミン II 欠乏症,"Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause.",,"TCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6948"">6948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14619"">K14619</a>]",,,,,,"ICD-11: 3A01.0
 ICD-10: D51.2
 OMIM: <a href=""https://www.omim.org/entry/275350"">275350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20352340"">20352340</a>
 著者        Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S
 タイトル      Should transcobalamin deficiency be treated aggressively?
 雑誌        J Inherit Metab Dis 33:223-9 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10545-010-9074-x"">10.1007/s10545-010-9074-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19581117"">19581117</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Muhl A, Fowler B, Nexo E, Bodamer OA
 タイトル      Transcobalamin II deficiency at birth.
 雑誌        Mol Genet Metab 98:285-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.06.003"">10.1016/j.ymgme.2009.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18956254"">18956254</a>
 著者        Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA
 タイトル      Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.
 雑誌        J Inherit Metab Dis 31 Suppl 2:S287-92 (2008)
 DOI:<a href=""https://doi.org/10.1007/s10545-008-0864-3"">10.1007/s10545-008-0864-3</a>"
H01191,鼻茸を伴うアスピリン喘息,,,"Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger asthmatic attacks. This clinical syndrome is characterized by eosinophilic inflammation of nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance.",免疫系疾患,,"TBX21 [HSA:30009] [KO:K10166]
 PTGER2 [HSA:5732] [KO:K04259]",,,,,,"ICD-11: CA23.20
 ICD-10: J45
 MeSH: C565935
 OMIM: 208550","PMID:15806396
 著者        Akahoshi M, Obara K, Hirota T, Matsuda A, Hasegawa K, Takahashi N, Shimizu M, Nakashima K, Cheng L, Doi S, Fujiwara H, Miyatake A, Fujita K, Higashi N, Taniguchi M, Enomoto T, Mao XQ, Nakashima H, Adra CN, Nakamura Y, Tamari M, Shirakawa T
 タイトル      Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma.
 雑誌        Hum Genet 117:16-26 (2005)
 DOI:10.1007/s00439-005-1285-0
 PMID:21370724
 著者        Schaper C, Noga O, Koch B, Ewert R, Felix SB, Glaser S, Kunkel G, Gustavus B
 タイトル      Anti-inflammatory properties of montelukast, a leukotriene receptor antagonist in patients with asthma and nasal polyposis.
 雑誌        J Investig Allergol Clin Immunol 21:51-8 (2011)
 PMID:15496426
 著者        Jinnai N, Sakagami T, Sekigawa T, Kakihara M, Nakajima T, Yoshida K, Goto S, Hasegawa T, Koshino T, Hasegawa Y, Inoue H, Suzuki N, Sano Y, Inoue I
 タイトル      Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach.
 雑誌        Hum Mol Genet 13:3203-17 (2004)
 DOI:10.1093/hmg/ddh332","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01191"">H01191</a>",鼻茸を伴うアスピリン喘息,"Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger asthmatic attacks. This clinical syndrome is characterized by eosinophilic inflammation of nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance.",,"TBX21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30009"">30009</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10166"">K10166</a>]
 PTGER2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5732"">5732</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04259"">K04259</a>]",,,,,,"ICD-11: CA23.20
 ICD-10: J45
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565935"">C565935</a>
 OMIM: <a href=""https://www.omim.org/entry/208550"">208550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15806396"">15806396</a>
 著者        Akahoshi M, Obara K, Hirota T, Matsuda A, Hasegawa K, Takahashi N, Shimizu M, Nakashima K, Cheng L, Doi S, Fujiwara H, Miyatake A, Fujita K, Higashi N, Taniguchi M, Enomoto T, Mao XQ, Nakashima H, Adra CN, Nakamura Y, Tamari M, Shirakawa T
 タイトル      Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma.
 雑誌        Hum Genet 117:16-26 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1285-0"">10.1007/s00439-005-1285-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21370724"">21370724</a>
 著者        Schaper C, Noga O, Koch B, Ewert R, Felix SB, Glaser S, Kunkel G, Gustavus B
 タイトル      Anti-inflammatory properties of montelukast, a leukotriene receptor antagonist in patients with asthma and nasal polyposis.
 雑誌        J Investig Allergol Clin Immunol 21:51-8 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15496426"">15496426</a>
 著者        Jinnai N, Sakagami T, Sekigawa T, Kakihara M, Nakajima T, Yoshida K, Goto S, Hasegawa T, Koshino T, Hasegawa Y, Inoue H, Suzuki N, Sano Y, Inoue I
 タイトル      Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach.
 雑誌        Hum Mol Genet 13:3203-17 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh332"">10.1093/hmg/ddh332</a>"
H01192,リジルヒドロキシラーゼ3 欠損症,,,"Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.",先天奇形,,PLOD3 [HSA:8985] [KO:K13646],,,,,,"MeSH: C567320
 OMIM: 612394","PMID:18834968
 著者        Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R
 タイトル      A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
 雑誌        Am J Hum Genet 83:495-503 (2008)
 DOI:10.1016/j.ajhg.2008.09.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01192"">H01192</a>",リジルヒドロキシラーゼ3 欠損症,"Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.",,"PLOD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8985"">8985</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13646"">K13646</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567320"">C567320</a>
 OMIM: <a href=""https://www.omim.org/entry/612394"">612394</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18834968"">18834968</a>
 著者        Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R
 タイトル      A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
 雑誌        Am J Hum Genet 83:495-503 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.09.004"">10.1016/j.ajhg.2008.09.004</a>"
H01193,家族性腫瘍状石灰化症,,,"Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). hFTC is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, occasionally, in visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. nFTC is characterized by absence of metabolic abnormalities. nFTC has been found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein.",先天性代謝異常症,,"(HFTC1) GALNT3 [HSA:2591] [KO:K00710]
 (HFTC2) FGF23 [HSA:8074] [KO:K22428]
 (HFTC3) KL [HSA:9365] [KO:K14756]
 (NFTC) SAMD9 [HSA:54809] [KO:K23949]",,,,,,"ICD-11: 5C54.1
 ICD-10: M11.2
 MeSH: C566870 C566473
 OMIM: 211900 617993 617994 610455","PMID:19865099
 著者        Sprecher E
 タイトル      Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
 雑誌        J Invest Dermatol 130:652-60 (2010)
 DOI:10.1038/jid.2009.337
 PMID:22142751
 著者        Farrow EG, Imel EA, White KE
 タイトル      Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho).
 雑誌        Best Pract Res Clin Rheumatol 25:735-47 (2011)
 DOI:10.1016/j.berh.2011.10.020
 PMID:19013236
 著者        Chefetz I, Sprecher E
 タイトル      Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
 雑誌        Biochim Biophys Acta 1792:847-52 (2009)
 DOI:10.1016/j.bbadis.2008.10.008
 PMID:15133511 (GALNT3)
 著者        Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E
 タイトル      Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
 雑誌        Nat Genet 36:579-81 (2004)
 DOI:10.1038/ng1358
 PMID:15590700 (FGF23)
 著者        Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B
 タイトル      An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
 雑誌        Hum Mol Genet 14:385-90 (2005)
 DOI:10.1093/hmg/ddi034
 PMID:17710231 (KL)
 著者        Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ
 タイトル      A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
 雑誌        J Clin Invest 117:2684-91 (2007)
 DOI:10.1172/JCI31330
 PMID:16960814 (SAMD9)
 著者        Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E
 タイトル      A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
 雑誌        Am J Hum Genet 79:759-64 (2006)
 DOI:10.1086/508069","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01193"">H01193</a>",家族性腫瘍状石灰化症,"Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). hFTC is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, occasionally, in visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. nFTC is characterized by absence of metabolic abnormalities. nFTC has been found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein.",,"(HFTC1) GALNT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2591"">2591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00710"">K00710</a>]
 (HFTC2) FGF23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8074"">8074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22428"">K22428</a>]
 (HFTC3) KL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9365"">9365</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14756"">K14756</a>]
 (NFTC) SAMD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54809"">54809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23949"">K23949</a>]",,,,,,"ICD-11: 5C54.1
 ICD-10: M11.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566870"">C566870</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566473"">C566473</a>
 OMIM: <a href=""https://www.omim.org/entry/211900"">211900</a> <a href=""https://www.omim.org/entry/617993"">617993</a> <a href=""https://www.omim.org/entry/617994"">617994</a> <a href=""https://www.omim.org/entry/610455"">610455</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19865099"">19865099</a>
 著者        Sprecher E
 タイトル      Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
 雑誌        J Invest Dermatol 130:652-60 (2010)
 DOI:<a href=""https://doi.org/10.1038/jid.2009.337"">10.1038/jid.2009.337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22142751"">22142751</a>
 著者        Farrow EG, Imel EA, White KE
 タイトル      Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho).
 雑誌        Best Pract Res Clin Rheumatol 25:735-47 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2011.10.020"">10.1016/j.berh.2011.10.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19013236"">19013236</a>
 著者        Chefetz I, Sprecher E
 タイトル      Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
 雑誌        Biochim Biophys Acta 1792:847-52 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2008.10.008"">10.1016/j.bbadis.2008.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15133511"">15133511</a> (GALNT3)
 著者        Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E
 タイトル      Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
 雑誌        Nat Genet 36:579-81 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1358"">10.1038/ng1358</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15590700"">15590700</a> (FGF23)
 著者        Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B
 タイトル      An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
 雑誌        Hum Mol Genet 14:385-90 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi034"">10.1093/hmg/ddi034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17710231"">17710231</a> (KL)
 著者        Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ
 タイトル      A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
 雑誌        J Clin Invest 117:2684-91 (2007)
 DOI:<a href=""https://doi.org/10.1172/JCI31330"">10.1172/JCI31330</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16960814"">16960814</a> (SAMD9)
 著者        Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E
 タイトル      A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
 雑誌        Am J Hum Genet 79:759-64 (2006)
 DOI:<a href=""https://doi.org/10.1086/508069"">10.1086/508069</a>"
H01194,"X連鎖性点状軟骨異形成症
 下位グループ    X連鎖劣性遺伝性点状軟骨異形成症 (CDPX1)
 X連鎖優性遺伝性点状軟骨異形成症 (CDPX2)",,,"Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic CDP). CDP may also be inherited in a recessive and dominant X-linked fashion. The X-linked recessive CDP (CDPX1) characterized by facial anomalies with severe nasal hypoplasia, short stature, and distal phalangeal hypoplasia. Mutations in ARSE which encodes arylsulfatase E, showing a high sequence homology to steroid sulfatase. In X-linked dominant CDP (CDPX2), aberrant punctate calcification in cartilage is most prominent around the vertebral column, pelvis, and long bones. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been found that defects in D8-D7 sterol isomerase (EBP) cause CDPX2 and suggest a role for sterols in bone development.",先天奇形,,"(CDPX1) ARSL [HSA:415] [KO:K18222]
 (CDPX2) EBP [HSA:10682] [KO:K01824]",,,,,Rhizomelic chondrodysplasia punctata is described in H00207. [DS:H00207],"ICD-11: LD24.04
 ICD-10: Q77.3
 MeSH: C580533 C538416
 OMIM: 302950 302960","PMID:12567415 (ARSL)
 著者        Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G
 タイトル      X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
 雑誌        Am J Med Genet A 117A:164-8 (2003)
 DOI:10.1002/ajmg.a.10950
 PMID:10391219 (EBP)
 著者        Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D
 タイトル      Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.
 雑誌        Nat Genet 22:291-4 (1999)
 DOI:10.1038/10357","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01194"">H01194</a>","X連鎖性点状軟骨異形成症
 下位グループ    X連鎖劣性遺伝性点状軟骨異形成症 (CDPX1)
 X連鎖優性遺伝性点状軟骨異形成症 (CDPX2)","Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive trait (Rhizomelic CDP). CDP may also be inherited in a recessive and dominant X-linked fashion. The X-linked recessive CDP (CDPX1) characterized by facial anomalies with severe nasal hypoplasia, short stature, and distal phalangeal hypoplasia. Mutations in ARSE which encodes arylsulfatase E, showing a high sequence homology to steroid sulfatase. In X-linked dominant CDP (CDPX2), aberrant punctate calcification in cartilage is most prominent around the vertebral column, pelvis, and long bones. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, and atrophoderma. It has been found that defects in D8-D7 sterol isomerase (EBP) cause CDPX2 and suggest a role for sterols in bone development.",,"(CDPX1) ARSL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:415"">415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18222"">K18222</a>]
 (CDPX2) EBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10682"">10682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01824"">K01824</a>]",,,,,"Rhizomelic chondrodysplasia punctata is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00207."">H00207.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00207"">H00207</a>]","ICD-11: LD24.04
 ICD-10: Q77.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580533"">C580533</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538416"">C538416</a>
 OMIM: <a href=""https://www.omim.org/entry/302950"">302950</a> <a href=""https://www.omim.org/entry/302960"">302960</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12567415"">12567415</a> (ARSL)
 著者        Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G
 タイトル      X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
 雑誌        Am J Med Genet A 117A:164-8 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10950"">10.1002/ajmg.a.10950</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10391219"">10391219</a> (EBP)
 著者        Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D
 タイトル      Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.
 雑誌        Nat Genet 22:291-4 (1999)
 DOI:<a href=""https://doi.org/10.1038/10357"">10.1038/10357</a>"
H01195,"VATER/VACTERL連合
 下位グループ    X-連鎖 VACTERL 連合 (VACTERLX)
 VCTERL 症候群",,,"The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). It is typically defined by the presence of at least three of these cardinal features. The aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. Chromosomal abnormalities have been described in rare individual cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution.",先天奇形,,"PTEN [HSA:5728] [KO:K01110]
 HOXD13 [HSA:3239] [KO:K09298]
 (VACTERLX) ZIC3 [HSA:7547] [KO:K18487]
 (VCTERL) WBP11 [HSA:51729] [KO:K12866]",,"Maternal diabetes, uterine vascular pathology, and infertility treatment",,,,"ICD-11: LD2F.11
 ICD-10: Q87.2
 MeSH: C564752
 OMIM: 276950 192350 314390 619227","PMID:20849991
 著者        Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nothen MM, Ludwig M, Reutter H
 タイトル      De novo microduplication at 22q11.21 in a patient with VACTERL association.
 雑誌        Eur J Med Genet 54:9-13 (2011)
 DOI:10.1016/j.ejmg.2010.09.001
 PMID:21846383
 著者        Solomon BD
 タイトル      VACTERL/VATER Association.
 雑誌        Orphanet J Rare Dis 6:56 (2011)
 DOI:10.1186/1750-1172-6-56
 PMID:22422375 (description, environmental factor)
 著者        Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nothen MM, Reutter H, Ludwig M
 タイトル      Familial occurrence of the VATER/VACTERL association.
 雑誌        Pediatr Surg Int 28:725-9 (2012)
 DOI:10.1007/s00383-012-3073-y
 PMID:11748304
 著者        Reardon W, Zhou XP, Eng C
 タイトル      A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
 雑誌        J Med Genet 38:820-3 (2001)
 DOI:10.1136/jmg.38.12.820
 PMID:19006232
 著者        Garcia-Barcelo MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK
 タイトル      Identification of a HOXD13 mutation in a VACTERL patient.
 雑誌        Am J Med Genet A 146A:3181-5 (2008)
 DOI:10.1002/ajmg.a.32426
 PMID:20452998
 著者        Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B
 タイトル      Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
 雑誌        J Med Genet 47:351-5 (2010)
 DOI:10.1136/jmg.2008.060913
 PMID:33276377
 著者        Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemien GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
 タイトル      Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
 雑誌        Hum Mol Genet 29:3662-3678 (2020)
 DOI:10.1093/hmg/ddaa258","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01195"">H01195</a>","VATER/VACTERL連合
 下位グループ    X-連鎖 VACTERL 連合 (VACTERLX)
 VCTERL 症候群","The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). It is typically defined by the presence of at least three of these cardinal features. The aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. Chromosomal abnormalities have been described in rare individual cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution.",,"PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 HOXD13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3239"">3239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (VACTERLX) ZIC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7547"">7547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18487"">K18487</a>]
 (VCTERL) WBP11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51729"">51729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12866"">K12866</a>]",,"Maternal diabetes, uterine vascular pathology, and infertility treatment",,,,"ICD-11: LD2F.11
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564752"">C564752</a>
 OMIM: <a href=""https://www.omim.org/entry/276950"">276950</a> <a href=""https://www.omim.org/entry/192350"">192350</a> <a href=""https://www.omim.org/entry/314390"">314390</a> <a href=""https://www.omim.org/entry/619227"">619227</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20849991"">20849991</a>
 著者        Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nothen MM, Ludwig M, Reutter H
 タイトル      De novo microduplication at 22q11.21 in a patient with VACTERL association.
 雑誌        Eur J Med Genet 54:9-13 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.09.001"">10.1016/j.ejmg.2010.09.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21846383"">21846383</a>
 著者        Solomon BD
 タイトル      VACTERL/VATER Association.
 雑誌        Orphanet J Rare Dis 6:56 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-56"">10.1186/1750-1172-6-56</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22422375"">22422375</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nothen MM, Reutter H, Ludwig M
 タイトル      Familial occurrence of the VATER/VACTERL association.
 雑誌        Pediatr Surg Int 28:725-9 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00383-012-3073-y"">10.1007/s00383-012-3073-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11748304"">11748304</a>
 著者        Reardon W, Zhou XP, Eng C
 タイトル      A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
 雑誌        J Med Genet 38:820-3 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.12.820"">10.1136/jmg.38.12.820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19006232"">19006232</a>
 著者        Garcia-Barcelo MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK
 タイトル      Identification of a HOXD13 mutation in a VACTERL patient.
 雑誌        Am J Med Genet A 146A:3181-5 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32426"">10.1002/ajmg.a.32426</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20452998"">20452998</a>
 著者        Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B
 タイトル      Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
 雑誌        J Med Genet 47:351-5 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.060913"">10.1136/jmg.2008.060913</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33276377"">33276377</a>
 著者        Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemien GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
 タイトル      Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
 雑誌        Hum Mol Genet 29:3662-3678 (2020)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddaa258"">10.1093/hmg/ddaa258</a>"
H01196,"小球性低色素性貧血
 下位グループ    鉄過剰症を伴う小球性低色素性貧血 (AHMIO)",,,"Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling endosomes or specifically at the apical membrane of epithelial cells in intestine and kidneys, and can contribute to iron overload, whereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia.",血液疾患,,"(AHMIO1) NRAMP2 [HSA:4891] [KO:K21398]
 (AHMIO2) STEAP3 [HSA:55240] [KO:K10142]",,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: 206100 615234","PMID:17215883
 著者        Courville P, Chaloupka R, Cellier MF
 タイトル      Recent progress in structure-function analyses of Nramp proton-dependent metal-ion transporters.
 雑誌        Biochem Cell Biol 84:960-78 (2006)
 DOI:10.1139/o06-193
 PMID:9808632
 著者        Wood RJ, Han O
 タイトル      Recently identified molecular aspects of intestinal iron absorption.
 雑誌        J Nutr 128:1841-4 (1998)
 DOI:10.1093/jn/128.11.1841
 PMID:22031863
 著者        Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H
 タイトル      A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.
 雑誌        Blood 118:6660-6 (2011)
 DOI:10.1182/blood-2011-01-329011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01196"">H01196</a>","小球性低色素性貧血
 下位グループ    鉄過剰症を伴う小球性低色素性貧血 (AHMIO)","Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling endosomes or specifically at the apical membrane of epithelial cells in intestine and kidneys, and can contribute to iron overload, whereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia.",,"(AHMIO1) NRAMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4891"">4891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21398"">K21398</a>]
 (AHMIO2) STEAP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55240"">55240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10142"">K10142</a>]",,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: <a href=""https://www.omim.org/entry/206100"">206100</a> <a href=""https://www.omim.org/entry/615234"">615234</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17215883"">17215883</a>
 著者        Courville P, Chaloupka R, Cellier MF
 タイトル      Recent progress in structure-function analyses of Nramp proton-dependent metal-ion transporters.
 雑誌        Biochem Cell Biol 84:960-78 (2006)
 DOI:<a href=""https://doi.org/10.1139/o06-193"">10.1139/o06-193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9808632"">9808632</a>
 著者        Wood RJ, Han O
 タイトル      Recently identified molecular aspects of intestinal iron absorption.
 雑誌        J Nutr 128:1841-4 (1998)
 DOI:<a href=""https://doi.org/10.1093/jn/128.11.1841"">10.1093/jn/128.11.1841</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22031863"">22031863</a>
 著者        Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H
 タイトル      A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.
 雑誌        Blood 118:6660-6 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2011-01-329011"">10.1182/blood-2011-01-329011</a>"
H01197,ジヒドロ葉酸還元酵素欠損症,,,"Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused by mutations in the DHFR gene.",先天性代謝異常症,,DHFR [HSA:1719] [KO:K00287],,,,,,"ICD-11: 3A02.Y
 MeSH: C565095
 OMIM: 613839","PMID:22108709 (description, gene, drug)
 著者        Watkins D, Rosenblatt DS
 タイトル      Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
 雑誌        J Inherit Metab Dis 35:665-70 (2012)
 DOI:10.1007/s10545-011-9418-1
 PMID:21388369 (description, gene, drug)
 著者        Wijesekara N
 タイトル      Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.
 雑誌        Clin Genet 79:507-8 (2011)
 DOI:10.1111/j.1399-0004.2011.01662.x
 PMID:21310276 (description, gene, drug)
 著者        Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG
 タイトル      Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
 雑誌        Am J Hum Genet 88:216-25 (2011)
 DOI:10.1016/j.ajhg.2011.01.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01197"">H01197</a>",ジヒドロ葉酸還元酵素欠損症,"Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused by mutations in the DHFR gene.",,"DHFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1719"">1719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00287"">K00287</a>]",,,,,,"ICD-11: 3A02.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565095"">C565095</a>
 OMIM: <a href=""https://www.omim.org/entry/613839"">613839</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22108709"">22108709</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Watkins D, Rosenblatt DS
 タイトル      Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
 雑誌        J Inherit Metab Dis 35:665-70 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10545-011-9418-1"">10.1007/s10545-011-9418-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21388369"">21388369</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Wijesekara N
 タイトル      Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.
 雑誌        Clin Genet 79:507-8 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01662.x"">10.1111/j.1399-0004.2011.01662.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21310276"">21310276</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG
 タイトル      Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
 雑誌        Am J Hum Genet 88:216-25 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.01.004"">10.1016/j.ajhg.2011.01.004</a>"
H01198,腎ファンコニー症候群,,,"Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.",先天性代謝異常症,,"(FRTS1) GATM [HSA:2628] [KO:K00613]
 (FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
 (FRTS3) EHHADH [HSA:1962] [KO:K07514]
 (FRTS4) HNF4A [HSA:3172] [KO:K07292]
 (FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]",,,,,,"ICD-11: GB90.42
 ICD-10: E72.0
 MeSH: D005198
 OMIM: 134600 613388 615605 616026 618913","PMID:29654216 (FRTS1)
 著者        Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R
 タイトル      Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
 雑誌        J Am Soc Nephrol 29:1849-1858 (2018)
 DOI:10.1681/ASN.2017111179
 PMID:20335586 (FRTS2)
 著者        Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K
 タイトル      A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
 雑誌        N Engl J Med 362:1102-9 (2010)
 DOI:10.1056/NEJMoa0905647
 PMID:24401050 (FRTS3)
 著者        Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R
 タイトル      Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
 雑誌        N Engl J Med 370:129-38 (2014)
 DOI:10.1056/NEJMoa1307581
 PMID:24285859 (FRTS4)
 著者        Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT
 タイトル      The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.
 雑誌        J Med Genet 51:165-9 (2014)
 DOI:10.1136/jmedgenet-2013-102066
 PMID:27466185 (FRTS5)
 著者        Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S
 タイトル      Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
 雑誌        Hum Mol Genet 25:4062-4079 (2016)
 DOI:10.1093/hmg/ddw245","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01198"">H01198</a>",腎ファンコニー症候群,"Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.",,"(FRTS1) GATM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2628"">2628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00613"">K00613</a>]
 (FRTS2) SLC34A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6569"">6569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]
 (FRTS3) EHHADH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1962"">1962</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07514"">K07514</a>]
 (FRTS4) HNF4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3172"">3172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07292"">K07292</a>]
 (FRTS5) NDUFAF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137682"">137682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18163"">K18163</a>]",,,,,,"ICD-11: GB90.42
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005198"">D005198</a>
 OMIM: <a href=""https://www.omim.org/entry/134600"">134600</a> <a href=""https://www.omim.org/entry/613388"">613388</a> <a href=""https://www.omim.org/entry/615605"">615605</a> <a href=""https://www.omim.org/entry/616026"">616026</a> <a href=""https://www.omim.org/entry/618913"">618913</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29654216"">29654216</a> (FRTS1)
 著者        Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R
 タイトル      Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
 雑誌        J Am Soc Nephrol 29:1849-1858 (2018)
 DOI:<a href=""https://doi.org/10.1681/ASN.2017111179"">10.1681/ASN.2017111179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20335586"">20335586</a> (FRTS2)
 著者        Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K
 タイトル      A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
 雑誌        N Engl J Med 362:1102-9 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0905647"">10.1056/NEJMoa0905647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24401050"">24401050</a> (FRTS3)
 著者        Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R
 タイトル      Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
 雑誌        N Engl J Med 370:129-38 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1307581"">10.1056/NEJMoa1307581</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24285859"">24285859</a> (FRTS4)
 著者        Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT
 タイトル      The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.
 雑誌        J Med Genet 51:165-9 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102066"">10.1136/jmedgenet-2013-102066</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27466185"">27466185</a> (FRTS5)
 著者        Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S
 タイトル      Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
 雑誌        Hum Mol Genet 25:4062-4079 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw245"">10.1093/hmg/ddw245</a>"
H01199,高アルファリポタンパク質血症,,,"Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations is associated with an increased coronary artery disease (CAD) risk.",先天性代謝異常症,,"(HALP1) CETP [HSA:1071] [KO:K16835]
 (HALP2) APOC3 [HSA:345] [KO:K08759]",,,,,,"ICD-11: 5C80.3
 ICD-10: E78.4
 MeSH: C564591
 OMIM: 143470 614028","PMID:11111094 (HALP1)
 著者        Yamashita S, Hirano K, Sakai N, Matsuzawa Y
 タイトル      Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein.
 雑誌        Biochim Biophys Acta 1529:257-75 (2000)
 DOI:10.1016/S1388-1981(00)00164-5
 PMID:19074352 (HALP2)
 著者        Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR
 タイトル      A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
 雑誌        Science 322:1702-5 (2008)
 DOI:10.1126/science.1161524
 PMID:2022742 (HALP2)
 著者        von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G
 タイトル      Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.
 雑誌        J Clin Invest 87:1724-31 (1991)
 DOI:10.1172/JCI115190","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01199"">H01199</a>",高アルファリポタンパク質血症,"Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations is associated with an increased coronary artery disease (CAD) risk.",,"(HALP1) CETP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1071"">1071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16835"">K16835</a>]
 (HALP2) APOC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345"">345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08759"">K08759</a>]",,,,,,"ICD-11: 5C80.3
 ICD-10: E78.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564591"">C564591</a>
 OMIM: <a href=""https://www.omim.org/entry/143470"">143470</a> <a href=""https://www.omim.org/entry/614028"">614028</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11111094"">11111094</a> (HALP1)
 著者        Yamashita S, Hirano K, Sakai N, Matsuzawa Y
 タイトル      Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein.
 雑誌        Biochim Biophys Acta 1529:257-75 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1388-1981(00)00164-5"">10.1016/S1388-1981(00)00164-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19074352"">19074352</a> (HALP2)
 著者        Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR
 タイトル      A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
 雑誌        Science 322:1702-5 (2008)
 DOI:<a href=""https://doi.org/10.1126/science.1161524"">10.1126/science.1161524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2022742"">2022742</a> (HALP2)
 著者        von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G
 タイトル      Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.
 雑誌        J Clin Invest 87:1724-31 (1991)
 DOI:<a href=""https://doi.org/10.1172/JCI115190"">10.1172/JCI115190</a>"
H01200,"致死性乳児心臓脳筋症
 上位グループ    チトクロムc酸化酵素欠損症 [DS:H01368]
 ミトコンドリア病 [DS:H01427]",,,Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome c oxidase deficiency. Mutations in the SCO2 and COX15 gene causing cytochrome c oxidase deficiency have been reported in patients with fatal infantile cardioencephalomyopathy.,先天性代謝異常症,,"(CEMCOX1) SCO2 [HSA:9997] [KO:K23755]
 (CEMCOX2) COX15 [HSA:1355] [KO:K02259]
 (CEMCOX3) COA5 [HSA:493753] [KO:K18178]
 (CEMCOX4) COA6 [HSA:388753] [KO:K18179]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: C565784
 OMIM: 604377 615119 616500 616501","PMID:17187620
 著者        Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C
 タイトル      Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
 雑誌        Acta Paediatr 96:130-2 (2007)
 DOI:10.1111/j.1651-2227.2007.00008.x
 PMID:20159436
 著者        Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K
 タイトル      A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
 雑誌        Pediatr Neurol 42:227-30 (2010)
 DOI:10.1016/j.pediatrneurol.2009.10.004
 PMID:21412973
 著者        Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
 タイトル      Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
 雑誌        Am J Med Genet A 155A:840-4 (2011)
 DOI:10.1002/ajmg.a.33881
 PMID:21457908
 著者        Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ
 タイトル      A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
 雑誌        Am J Hum Genet 88:488-93 (2011)
 DOI:10.1016/j.ajhg.2011.03.002
 PMID:25339201
 著者        Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
 雑誌        Hum Mutat 36:34-8 (2015)
 DOI:10.1002/humu.22715","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01200"">H01200</a>","致死性乳児心臓脳筋症
 上位グループ    チトクロムc酸化酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01368"">H01368</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome c oxidase deficiency. Mutations in the SCO2 and COX15 gene causing cytochrome c oxidase deficiency have been reported in patients with fatal infantile cardioencephalomyopathy.,,"(CEMCOX1) SCO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9997"">9997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23755"">K23755</a>]
 (CEMCOX2) COX15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1355"">1355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02259"">K02259</a>]
 (CEMCOX3) COA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:493753"">493753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18178"">K18178</a>]
 (CEMCOX4) COA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388753"">388753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18179"">K18179</a>]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565784"">C565784</a>
 OMIM: <a href=""https://www.omim.org/entry/604377"">604377</a> <a href=""https://www.omim.org/entry/615119"">615119</a> <a href=""https://www.omim.org/entry/616500"">616500</a> <a href=""https://www.omim.org/entry/616501"">616501</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17187620"">17187620</a>
 著者        Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C
 タイトル      Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
 雑誌        Acta Paediatr 96:130-2 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2007.00008.x"">10.1111/j.1651-2227.2007.00008.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20159436"">20159436</a>
 著者        Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K
 タイトル      A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
 雑誌        Pediatr Neurol 42:227-30 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2009.10.004"">10.1016/j.pediatrneurol.2009.10.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412973"">21412973</a>
 著者        Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
 タイトル      Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
 雑誌        Am J Med Genet A 155A:840-4 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33881"">10.1002/ajmg.a.33881</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21457908"">21457908</a>
 著者        Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ
 タイトル      A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
 雑誌        Am J Hum Genet 88:488-93 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.002"">10.1016/j.ajhg.2011.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25339201"">25339201</a>
 著者        Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
 雑誌        Hum Mutat 36:34-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22715"">10.1002/humu.22715</a>"
H01201,イェンセン症候群,,,"Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) gene.",神経系疾患,,TIMM8A [HSA:1678] [KO:K17780],,,,,Mohr-Tranebjaerg syndrome [DS:H00989] is also caused by defects in TIMM8A.,"ICD-11: 5C53.2Y
 ICD-10: H47.2 H90.3
 MeSH: C537568
 OMIM: 311150","PMID:11803487
 著者        Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K
 タイトル      Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
 雑誌        Ophthalmic Genet 22:207-23 (2001)
 DOI:10.1076/opge.22.4.207.2220","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01201"">H01201</a>",イェンセン症候群,"Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) gene.",,"TIMM8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1678"">1678</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17780"">K17780</a>]",,,,,"Mohr-Tranebjaerg syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00989"">H00989</a>] is also caused by defects in TIMM8A.","ICD-11: 5C53.2Y
 ICD-10: H47.2 H90.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537568"">C537568</a>
 OMIM: <a href=""https://www.omim.org/entry/311150"">311150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11803487"">11803487</a>
 著者        Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K
 タイトル      Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
 雑誌        Ophthalmic Genet 22:207-23 (2001)
 DOI:<a href=""https://doi.org/10.1076/opge.22.4.207.2220"">10.1076/opge.22.4.207.2220</a>"
H01202,白内障,,,"Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount of high molecular weight protein aggregates. Cataracts can be classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent), autosomal recessive, or X-linked traits.",神経系疾患,,"(CTRCT1) GJA8 [HSA:2703] [KO:K07617]
 (CTRCT2) CRYGC [HSA:1420] [KO:K23483]
 (CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
 (CTRCT4) CRYGD [HSA:1421] [KO:K23483]
 (CTRCT5) HSF4 [HSA:3299] [KO:K09417]
 (CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
 (CTRCT9) CRYAA [HSA:1409] [KO:K09541]
 (CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
 (CTRCT11) PITX3 [HSA:5309] [KO:K09357]
 (CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
 (CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
 (CTRCT14) GJA3 [HSA:2700] [KO:K07612]
 (CTRCT15) MIP [HSA:4284] [KO:K09863]
 (CTRCT16) CRYAB [HSA:1410] [KO:K09542]
 (CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
 (CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
 (CTRCT19) LIM2 [HSA:3982] [KO:K24190]
 (CTRCT20) CRYGS [HSA:1427] [KO:K23483]
 (CTRCT21) MAF [HSA:4094] [KO:K09035]
 (CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
 (CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
 (CTRCT30) VIM [HSA:7431] [KO:K07606]
 (CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
 (CTRCT33) BFSP1 [HSA:631] [KO:K10378]
 (CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
 (CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
 (CTRCT38) AGK [HSA:55750] [KO:K09881]
 (CTRCT39) CRYGB [HSA:1419] [KO:K23483]
 (CTRCT40) NHS [HSA:4810] [KO:K24144]
 (CTRCT41) WFS1 [HSA:7466] [KO:K14020]
 (CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
 (CTRCT43) UNC45B [HSA:146862] [KO:K21991]
 (CTRCT44) LSS [HSA:4047] [KO:K01852]
 (CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
 (CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
 (CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
 (CTRCT48) DNMBP [HSA:23268] [KO:K20705]
 (CTRCT49) PANK4 [HSA:55229] [KO:K24265]",,,,"グルタチオン [DR:D00014]
 ピレノキシン [DR:D01100]
 チオプロニン [DR:D01430]",,"ICD-11: 9B10
 ICD-10: H26 Q12.0
 MeSH: D002386
 OMIM: 116200 604307 601547 115700 116800 116600 604219 600881 610623 611597 116700 601885 615274 613763 611544 610019 615277 116100 610202 609741 610425 116300 605387 611391 612968 613887 614691 615188 302200 116400 115900 616279 616509 616851 212500 612018 618415 619593","PMID:17296892
 著者        Shiels A, Hejtmancik JF
 タイトル      Genetic origins of cataract.
 雑誌        Arch Ophthalmol 125:165-73 (2007)
 DOI:10.1001/archopht.125.2.165
 PMID:18035564
 著者        Hejtmancik JF
 タイトル      Congenital cataracts and their molecular genetics.
 雑誌        Semin Cell Dev Biol 19:134-49 (2008)
 DOI:10.1016/j.semcdb.2007.10.003
 PMID:21779674
 著者        Santana A, Waiswo M
 タイトル      The genetic and molecular basis of congenital cataract.
 雑誌        Arq Bras Oftalmol 74:136-42 (2011)
 DOI:10.1590/S0004-27492011000200016
 PMID:20624502
 著者        Huang B, He W
 タイトル      Molecular characteristics of inherited congenital cataracts.
 雑誌        Eur J Med Genet 53:347-57 (2010)
 DOI:10.1016/j.ejmg.2010.07.001
 PMID:9497259 (GJA8)
 著者        Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S
 タイトル      A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q.
 雑誌        Am J Hum Genet 62:526-32 (1998)
 DOI:10.1086/301762
 PMID:10521291 (CRYGC)
 著者        Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL
 タイトル      The gamma-crystallins and human cataracts: a puzzle made clearer.
 雑誌        Am J Hum Genet 65:1261-7 (1999)
 DOI:10.1086/302619
 PMID:9158139 (CRYBB2)
 著者        Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH
 タイトル      Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
 雑誌        Hum Mol Genet 6:665-8 (1997)
 DOI:10.1093/hmg/6.5.665
 PMID:9927684 (CRYGD)
 著者        Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ
 タイトル      Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
 雑誌        Proc Natl Acad Sci U S A 96:1008-12 (1999)
 DOI:10.1073/pnas.96.3.1008
 PMID:12089525 (HSF4)
 著者        Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X
 タイトル      Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
 雑誌        Nat Genet 31:276-8 (2002)
 DOI:10.1038/ng921
 PMID:19005574 (EPHA2)
 著者        Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF
 タイトル      The EPHA2 gene is associated with cataracts linked to chromosome 1p.
 雑誌        Mol Vis 14:2042-55 (2008)
 PMID:9467006 (CRYAA)
 著者        Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG
 タイトル      Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
 雑誌        Hum Mol Genet 7:471-4 (1998)
 DOI:10.1093/hmg/7.3.471
 PMID:9788845 (CRYBA1)
 著者        Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
 タイトル      Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
 雑誌        Mol Vis 4:21 (1998)
 PMID:9620774 (PITX3)
 著者        Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC
 タイトル      A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
 雑誌        Nat Genet 19:167-70 (1998)
 DOI:10.1038/527
 PMID:10729115 (BFSP2)
 著者        Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB
 タイトル      A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
 雑誌        Am J Hum Genet 66:1426-31 (2000)
 DOI:10.1086/302871
 PMID:11739194 (GCNT2)
 著者        Yu LC, Twu YC, Chang CY, Lin M
 タイトル      Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.
 雑誌        Blood 98:3840-5 (2001)
 DOI:10.1182/blood.v98.13.3840
 PMID:10205266 (GJA3)
 著者        Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S
 タイトル      Connexin46 mutations in autosomal dominant congenital cataract.
 雑誌        Am J Hum Genet 64:1357-64 (1999)
 DOI:10.1086/302383
 PMID:10802646 (MIP)
 著者        Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S
 タイトル      Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
 雑誌        Nat Genet 25:15-7 (2000)
 DOI:10.1038/75538
 PMID:11577372 (CRYAB)
 著者        Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA
 タイトル      Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
 雑誌        Am J Hum Genet 69:1141-5 (2001)
 DOI:10.1086/324158
 PMID:12360425 (CRYBB1)
 著者        Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A
 タイトル      A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
 雑誌        Am J Hum Genet 71:1216-21 (2002)
 DOI:10.1086/344212
 PMID:21636066 (FYCO1)
 著者        Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF
 タイトル      Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
 雑誌        Am J Hum Genet 88:827-838 (2011)
 DOI:10.1016/j.ajhg.2011.05.008
 PMID:11917274 (LIM2)
 著者        Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E
 タイトル      A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
 雑誌        Am J Hum Genet 70:1363-7 (2002)
 DOI:10.1086/340318
 PMID:16141006 (CRYGS)
 著者        Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y
 タイトル      Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
 雑誌        J Med Genet 42:706-10 (2005)
 DOI:10.1136/jmg.2004.028274
 PMID:11772997 (MAF)
 著者        Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC
 タイトル      Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
 雑誌        Hum Mol Genet 11:33-42 (2002)
 DOI:10.1093/hmg/11.1.33
 PMID:15914629 (CRYBB3)
 著者        Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF
 タイトル      Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
 雑誌        Invest Ophthalmol Vis Sci 46:2100-6 (2005)
 DOI:10.1167/iovs.04-1481
 PMID:16960806 (CRYBA4)
 著者        Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E
 タイトル      CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
 雑誌        Am J Hum Genet 79:702-9 (2006)
 DOI:10.1086/507712
 PMID:19126778 (VIM)
 著者        Muller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM
 タイトル      Dominant cataract formation in association with a vimentin assembly disrupting mutation.
 雑誌        Hum Mol Genet 18:1052-7 (2009)
 DOI:10.1093/hmg/ddn440
 PMID:17701905 (CHMP4B)
 著者        Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI
 タイトル      CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
 雑誌        Am J Hum Genet 81:596-606 (2007)
 DOI:10.1086/519980
 PMID:17225135 (BFSP1)
 著者        Ramachandran RD, Perumalsamy V, Hejtmancik JF
 タイトル      Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
 雑誌        Hum Genet 121:475-82 (2007)
 DOI:10.1007/s00439-006-0319-6
 PMID:27218149 (FOXE3)
 著者        Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
 タイトル      FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
 雑誌        Nat Commun 7:10953 (2016)
 DOI:10.1038/ncomms10953
 PMID:21436445 (TDRD7)
 著者        Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL
 タイトル      Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
 雑誌        Science 331:1571-6 (2011)
 DOI:10.1126/science.1195970
 PMID:22415731 (AGK)
 著者        Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS
 タイトル      Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
 雑誌        Hum Mutat 33:960-2 (2012)
 DOI:10.1002/humu.22071
 PMID:23288985 (CRYGB)
 著者        AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F
 タイトル      Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
 雑誌        Mol Vis 18:2931-6 (2012)
 PMID:19414485 (NHS)
 著者        Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
 タイトル      X-linked cataract and Nance-Horan syndrome are allelic disorders.
 雑誌        Hum Mol Genet 18:2643-55 (2009)
 DOI:10.1093/hmg/ddp206
 PMID:23531866 (WFS1)
 著者        Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS
 タイトル      Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
 雑誌        Eur J Hum Genet 21:1356-60 (2013)
 DOI:10.1038/ejhg.2013.52
 PMID:23508780 (CRYBA2)
 著者        Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV
 タイトル      Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
 雑誌        Hum Genet 132:761-70 (2013)
 DOI:10.1007/s00439-013-1289-0
 PMID:24549050 (UNC45B)
 著者        Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D
 タイトル      The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
 雑誌        Eur J Hum Genet 22:1290-7 (2014)
 DOI:10.1038/ejhg.2014.21
 PMID:16440058 (LSS)
 著者        Mori M, Li G, Abe I, Nakayama J, Guo Z, Sawashita J, Ugawa T, Nishizono S, Serikawa T, Higuchi K, Shumiya S
 タイトル      Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.
 雑誌        J Clin Invest 116:395-404 (2006)
 DOI:10.1172/JCI20797
 PMID:25804400 (SIPA1L3)
 著者        Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U
 タイトル      SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
 雑誌        Eur J Hum Genet 23:1627-33 (2015)
 DOI:10.1038/ejhg.2015.46
 PMID:26788539 (LEMD2)
 著者        Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA
 タイトル      Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
 雑誌        Mol Genet Genomic Med 4:77-94 (2016)
 DOI:10.1002/mgg3.181
 PMID:21778275 (SLC16A12)
 著者        Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ
 タイトル      Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
 雑誌        Invest Ophthalmol Vis Sci 52:6774-84 (2011)
 DOI:10.1167/iovs.10-6579
 PMID:30290152 (DNMBP)
 著者        Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE
 タイトル      Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
 雑誌        Am J Hum Genet 103:568-578 (2018)
 DOI:10.1016/j.ajhg.2018.09.004
 PMID:30585370 (PANK4)
 著者        Sun M, Chen C, Hou S, Li X, Wang H, Zhou J, Chen X, Liu P, Kijlstra A, Lin S, Ye J
 タイトル      A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
 雑誌        Hum Mutat 40:380-391 (2019)
 DOI:10.1002/humu.23696","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01202"">H01202</a>",白内障,"Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount of high molecular weight protein aggregates. Cataracts can be classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent), autosomal recessive, or X-linked traits.",,"(CTRCT1) GJA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2703"">2703</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07617"">K07617</a>]
 (CTRCT2) CRYGC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1420"">1420</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23483"">K23483</a>]
 (CTRCT3) CRYBB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1415"">1415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT4) CRYGD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1421"">1421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23483"">K23483</a>]
 (CTRCT5) HSF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3299"">3299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09417"">K09417</a>]
 (CTRCT6) EPHA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1969"">1969</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05103"">K05103</a>]
 (CTRCT9) CRYAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1409"">1409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09541"">K09541</a>]
 (CTRCT10) CRYBA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1411"">1411</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT11) PITX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5309"">5309</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09357"">K09357</a>]
 (CTRCT12) BFSP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8419"">8419</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10379"">K10379</a>]
 (CTRCT13) GCNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2651"">2651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00742"">K00742</a>]
 (CTRCT14) GJA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2700"">2700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07612"">K07612</a>]
 (CTRCT15) MIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4284"">4284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09863"">K09863</a>]
 (CTRCT16) CRYAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1410"">1410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09542"">K09542</a>]
 (CTRCT17) CRYBB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1414"">1414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT18) FYCO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79443"">79443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21954"">K21954</a>]
 (CTRCT19) LIM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3982"">3982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24190"">K24190</a>]
 (CTRCT20) CRYGS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1427"">1427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23483"">K23483</a>]
 (CTRCT21) MAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4094"">4094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09035"">K09035</a>]
 (CTRCT22) CRYBB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1417"">1417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT23) CRYBA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1413"">1413</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT30) VIM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7431"">7431</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07606"">K07606</a>]
 (CTRCT31) CHMP4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128866"">128866</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12194"">K12194</a>]
 (CTRCT33) BFSP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:631"">631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10378"">K10378</a>]
 (CTRCT34) FOXE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2301"">2301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09398"">K09398</a>]
 (CTRCT36) TDRD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23424"">23424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18405"">K18405</a>]
 (CTRCT38) AGK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55750"">55750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09881"">K09881</a>]
 (CTRCT39) CRYGB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1419"">1419</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23483"">K23483</a>]
 (CTRCT40) NHS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4810"">4810</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24144"">K24144</a>]
 (CTRCT41) WFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7466"">7466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14020"">K14020</a>]
 (CTRCT42) CRYBA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1412"">1412</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23482"">K23482</a>]
 (CTRCT43) UNC45B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146862"">146862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21991"">K21991</a>]
 (CTRCT44) LSS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4047"">4047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01852"">K01852</a>]
 (CTRCT45) SIPA1L3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23094"">23094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17703"">K17703</a>]
 (CTRCT46) LEMD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221496"">221496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24080"">K24080</a>]
 (CTRCT47) SLC16A12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387700"">387700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11810"">K11810</a>]
 (CTRCT48) DNMBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23268"">23268</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20705"">K20705</a>]
 (CTRCT49) PANK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55229"">55229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24265"">K24265</a>]",,,,"グルタチオン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00014"">D00014</a>]
 ピレノキシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01100"">D01100</a>]
 チオプロニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01430"">D01430</a>]",,"ICD-11: 9B10
 ICD-10: H26 Q12.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002386"">D002386</a>
 OMIM: <a href=""https://www.omim.org/entry/116200"">116200</a> <a href=""https://www.omim.org/entry/604307"">604307</a> <a href=""https://www.omim.org/entry/601547"">601547</a> <a href=""https://www.omim.org/entry/115700"">115700</a> <a href=""https://www.omim.org/entry/116800"">116800</a> <a href=""https://www.omim.org/entry/116600"">116600</a> <a href=""https://www.omim.org/entry/604219"">604219</a> <a href=""https://www.omim.org/entry/600881"">600881</a> <a href=""https://www.omim.org/entry/610623"">610623</a> <a href=""https://www.omim.org/entry/611597"">611597</a> <a href=""https://www.omim.org/entry/116700"">116700</a> <a href=""https://www.omim.org/entry/601885"">601885</a> <a href=""https://www.omim.org/entry/615274"">615274</a> <a href=""https://www.omim.org/entry/613763"">613763</a> <a href=""https://www.omim.org/entry/611544"">611544</a> <a href=""https://www.omim.org/entry/610019"">610019</a> <a href=""https://www.omim.org/entry/615277"">615277</a> <a href=""https://www.omim.org/entry/116100"">116100</a> <a href=""https://www.omim.org/entry/610202"">610202</a> <a href=""https://www.omim.org/entry/609741"">609741</a> <a href=""https://www.omim.org/entry/610425"">610425</a> <a href=""https://www.omim.org/entry/116300"">116300</a> <a href=""https://www.omim.org/entry/605387"">605387</a> <a href=""https://www.omim.org/entry/611391"">611391</a> <a href=""https://www.omim.org/entry/612968"">612968</a> <a href=""https://www.omim.org/entry/613887"">613887</a> <a href=""https://www.omim.org/entry/614691"">614691</a> <a href=""https://www.omim.org/entry/615188"">615188</a> <a href=""https://www.omim.org/entry/302200"">302200</a> <a href=""https://www.omim.org/entry/116400"">116400</a> <a href=""https://www.omim.org/entry/115900"">115900</a> <a href=""https://www.omim.org/entry/616279"">616279</a> <a href=""https://www.omim.org/entry/616509"">616509</a> <a href=""https://www.omim.org/entry/616851"">616851</a> <a href=""https://www.omim.org/entry/212500"">212500</a> <a href=""https://www.omim.org/entry/612018"">612018</a> <a href=""https://www.omim.org/entry/618415"">618415</a> <a href=""https://www.omim.org/entry/619593"">619593</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17296892"">17296892</a>
 著者        Shiels A, Hejtmancik JF
 タイトル      Genetic origins of cataract.
 雑誌        Arch Ophthalmol 125:165-73 (2007)
 DOI:<a href=""https://doi.org/10.1001/archopht.125.2.165"">10.1001/archopht.125.2.165</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18035564"">18035564</a>
 著者        Hejtmancik JF
 タイトル      Congenital cataracts and their molecular genetics.
 雑誌        Semin Cell Dev Biol 19:134-49 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.semcdb.2007.10.003"">10.1016/j.semcdb.2007.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21779674"">21779674</a>
 著者        Santana A, Waiswo M
 タイトル      The genetic and molecular basis of congenital cataract.
 雑誌        Arq Bras Oftalmol 74:136-42 (2011)
 DOI:<a href=""https://doi.org/10.1590/S0004-27492011000200016"">10.1590/S0004-27492011000200016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20624502"">20624502</a>
 著者        Huang B, He W
 タイトル      Molecular characteristics of inherited congenital cataracts.
 雑誌        Eur J Med Genet 53:347-57 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.07.001"">10.1016/j.ejmg.2010.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9497259"">9497259</a> (GJA8)
 著者        Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S
 タイトル      A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q.
 雑誌        Am J Hum Genet 62:526-32 (1998)
 DOI:<a href=""https://doi.org/10.1086/301762"">10.1086/301762</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10521291"">10521291</a> (CRYGC)
 著者        Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL
 タイトル      The gamma-crystallins and human cataracts: a puzzle made clearer.
 雑誌        Am J Hum Genet 65:1261-7 (1999)
 DOI:<a href=""https://doi.org/10.1086/302619"">10.1086/302619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9158139"">9158139</a> (CRYBB2)
 著者        Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH
 タイトル      Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
 雑誌        Hum Mol Genet 6:665-8 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.5.665"">10.1093/hmg/6.5.665</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9927684"">9927684</a> (CRYGD)
 著者        Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ
 タイトル      Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
 雑誌        Proc Natl Acad Sci U S A 96:1008-12 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.3.1008"">10.1073/pnas.96.3.1008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12089525"">12089525</a> (HSF4)
 著者        Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X
 タイトル      Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
 雑誌        Nat Genet 31:276-8 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng921"">10.1038/ng921</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19005574"">19005574</a> (EPHA2)
 著者        Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF
 タイトル      The EPHA2 gene is associated with cataracts linked to chromosome 1p.
 雑誌        Mol Vis 14:2042-55 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9467006"">9467006</a> (CRYAA)
 著者        Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG
 タイトル      Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
 雑誌        Hum Mol Genet 7:471-4 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.3.471"">10.1093/hmg/7.3.471</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9788845"">9788845</a> (CRYBA1)
 著者        Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
 タイトル      Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
 雑誌        Mol Vis 4:21 (1998)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9620774"">9620774</a> (PITX3)
 著者        Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC
 タイトル      A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
 雑誌        Nat Genet 19:167-70 (1998)
 DOI:<a href=""https://doi.org/10.1038/527"">10.1038/527</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10729115"">10729115</a> (BFSP2)
 著者        Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB
 タイトル      A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
 雑誌        Am J Hum Genet 66:1426-31 (2000)
 DOI:<a href=""https://doi.org/10.1086/302871"">10.1086/302871</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11739194"">11739194</a> (GCNT2)
 著者        Yu LC, Twu YC, Chang CY, Lin M
 タイトル      Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.
 雑誌        Blood 98:3840-5 (2001)
 DOI:<a href=""https://doi.org/10.1182/blood.v98.13.3840"">10.1182/blood.v98.13.3840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10205266"">10205266</a> (GJA3)
 著者        Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S
 タイトル      Connexin46 mutations in autosomal dominant congenital cataract.
 雑誌        Am J Hum Genet 64:1357-64 (1999)
 DOI:<a href=""https://doi.org/10.1086/302383"">10.1086/302383</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10802646"">10802646</a> (MIP)
 著者        Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S
 タイトル      Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
 雑誌        Nat Genet 25:15-7 (2000)
 DOI:<a href=""https://doi.org/10.1038/75538"">10.1038/75538</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11577372"">11577372</a> (CRYAB)
 著者        Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA
 タイトル      Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
 雑誌        Am J Hum Genet 69:1141-5 (2001)
 DOI:<a href=""https://doi.org/10.1086/324158"">10.1086/324158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12360425"">12360425</a> (CRYBB1)
 著者        Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A
 タイトル      A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
 雑誌        Am J Hum Genet 71:1216-21 (2002)
 DOI:<a href=""https://doi.org/10.1086/344212"">10.1086/344212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21636066"">21636066</a> (FYCO1)
 著者        Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF
 タイトル      Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
 雑誌        Am J Hum Genet 88:827-838 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.008"">10.1016/j.ajhg.2011.05.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11917274"">11917274</a> (LIM2)
 著者        Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E
 タイトル      A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
 雑誌        Am J Hum Genet 70:1363-7 (2002)
 DOI:<a href=""https://doi.org/10.1086/340318"">10.1086/340318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16141006"">16141006</a> (CRYGS)
 著者        Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y
 タイトル      Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
 雑誌        J Med Genet 42:706-10 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.028274"">10.1136/jmg.2004.028274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11772997"">11772997</a> (MAF)
 著者        Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC
 タイトル      Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
 雑誌        Hum Mol Genet 11:33-42 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.1.33"">10.1093/hmg/11.1.33</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15914629"">15914629</a> (CRYBB3)
 著者        Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF
 タイトル      Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
 雑誌        Invest Ophthalmol Vis Sci 46:2100-6 (2005)
 DOI:<a href=""https://doi.org/10.1167/iovs.04-1481"">10.1167/iovs.04-1481</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16960806"">16960806</a> (CRYBA4)
 著者        Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E
 タイトル      CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
 雑誌        Am J Hum Genet 79:702-9 (2006)
 DOI:<a href=""https://doi.org/10.1086/507712"">10.1086/507712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19126778"">19126778</a> (VIM)
 著者        Muller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM
 タイトル      Dominant cataract formation in association with a vimentin assembly disrupting mutation.
 雑誌        Hum Mol Genet 18:1052-7 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn440"">10.1093/hmg/ddn440</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701905"">17701905</a> (CHMP4B)
 著者        Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI
 タイトル      CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
 雑誌        Am J Hum Genet 81:596-606 (2007)
 DOI:<a href=""https://doi.org/10.1086/519980"">10.1086/519980</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17225135"">17225135</a> (BFSP1)
 著者        Ramachandran RD, Perumalsamy V, Hejtmancik JF
 タイトル      Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
 雑誌        Hum Genet 121:475-82 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00439-006-0319-6"">10.1007/s00439-006-0319-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27218149"">27218149</a> (FOXE3)
 著者        Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
 タイトル      FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
 雑誌        Nat Commun 7:10953 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms10953"">10.1038/ncomms10953</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21436445"">21436445</a> (TDRD7)
 著者        Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL
 タイトル      Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
 雑誌        Science 331:1571-6 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1195970"">10.1126/science.1195970</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22415731"">22415731</a> (AGK)
 著者        Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS
 タイトル      Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
 雑誌        Hum Mutat 33:960-2 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22071"">10.1002/humu.22071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23288985"">23288985</a> (CRYGB)
 著者        AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F
 タイトル      Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
 雑誌        Mol Vis 18:2931-6 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19414485"">19414485</a> (NHS)
 著者        Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
 タイトル      X-linked cataract and Nance-Horan syndrome are allelic disorders.
 雑誌        Hum Mol Genet 18:2643-55 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp206"">10.1093/hmg/ddp206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23531866"">23531866</a> (WFS1)
 著者        Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS
 タイトル      Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
 雑誌        Eur J Hum Genet 21:1356-60 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.52"">10.1038/ejhg.2013.52</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23508780"">23508780</a> (CRYBA2)
 著者        Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV
 タイトル      Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
 雑誌        Hum Genet 132:761-70 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1289-0"">10.1007/s00439-013-1289-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24549050"">24549050</a> (UNC45B)
 著者        Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D
 タイトル      The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
 雑誌        Eur J Hum Genet 22:1290-7 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.21"">10.1038/ejhg.2014.21</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16440058"">16440058</a> (LSS)
 著者        Mori M, Li G, Abe I, Nakayama J, Guo Z, Sawashita J, Ugawa T, Nishizono S, Serikawa T, Higuchi K, Shumiya S
 タイトル      Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.
 雑誌        J Clin Invest 116:395-404 (2006)
 DOI:<a href=""https://doi.org/10.1172/JCI20797"">10.1172/JCI20797</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25804400"">25804400</a> (SIPA1L3)
 著者        Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U
 タイトル      SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
 雑誌        Eur J Hum Genet 23:1627-33 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.46"">10.1038/ejhg.2015.46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26788539"">26788539</a> (LEMD2)
 著者        Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA
 タイトル      Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
 雑誌        Mol Genet Genomic Med 4:77-94 (2016)
 DOI:<a href=""https://doi.org/10.1002/mgg3.181"">10.1002/mgg3.181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21778275"">21778275</a> (SLC16A12)
 著者        Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ
 タイトル      Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
 雑誌        Invest Ophthalmol Vis Sci 52:6774-84 (2011)
 DOI:<a href=""https://doi.org/10.1167/iovs.10-6579"">10.1167/iovs.10-6579</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30290152"">30290152</a> (DNMBP)
 著者        Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE
 タイトル      Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
 雑誌        Am J Hum Genet 103:568-578 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.09.004"">10.1016/j.ajhg.2018.09.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30585370"">30585370</a> (PANK4)
 著者        Sun M, Chen C, Hou S, Li X, Wang H, Zhou J, Chen X, Liu P, Kijlstra A, Lin S, Ye J
 タイトル      A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
 雑誌        Hum Mutat 40:380-391 (2019)
 DOI:<a href=""https://doi.org/10.1002/humu.23696"">10.1002/humu.23696</a>"
H01203,"先天性緑内障;
 緑内障 3 型",,,"Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated IOP, corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease.",先天奇形,,"(GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
 (GLC3D) LTBP2 [HSA:4053] [KO:K08023]
 (GLC3E) TEK [HSA:7010] [KO:K05121]",,,,,,"ICD-11: 9C61.40
 ICD-10: Q15.0
 MeSH: C565547 C536824 C567765
 OMIM: 231300 613086 617272","PMID:21150024
 著者        Sharaawy T, Bhartiya S
 タイトル      Surgical management of glaucoma: evolving paradigms.
 雑誌        Indian J Ophthalmol 59 Suppl:S123-30 (2011)
 DOI:10.4103/0301-4738.73692
 PMID:22128238 (CYP1B1 LTBP2)
 著者        Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA
 タイトル      Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
 雑誌        Mol Vis 17:2911-9 (2011)
 PMID:27270174 (TEK)
 著者        Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL
 タイトル      Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
 雑誌        J Clin Invest 126:2575-87 (2016)
 DOI:10.1172/JCI85830","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01203"">H01203</a>","先天性緑内障;
 緑内障 3 型","Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated IOP, corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease.",,"(GLC3A) CYP1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1545"">1545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07410"">K07410</a>]
 (GLC3D) LTBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4053"">4053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08023"">K08023</a>]
 (GLC3E) TEK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7010"">7010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05121"">K05121</a>]",,,,,,"ICD-11: 9C61.40
 ICD-10: Q15.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565547"">C565547</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536824"">C536824</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567765"">C567765</a>
 OMIM: <a href=""https://www.omim.org/entry/231300"">231300</a> <a href=""https://www.omim.org/entry/613086"">613086</a> <a href=""https://www.omim.org/entry/617272"">617272</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21150024"">21150024</a>
 著者        Sharaawy T, Bhartiya S
 タイトル      Surgical management of glaucoma: evolving paradigms.
 雑誌        Indian J Ophthalmol 59 Suppl:S123-30 (2011)
 DOI:<a href=""https://doi.org/10.4103/0301-4738.73692"">10.4103/0301-4738.73692</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22128238"">22128238</a> (CYP1B1 <a href=""https://pubmed.ncbi.nlm.nih.gov/LTBP2)"">LTBP2)</a>
 著者        Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA
 タイトル      Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
 雑誌        Mol Vis 17:2911-9 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27270174"">27270174</a> (TEK)
 著者        Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL
 タイトル      Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
 雑誌        J Clin Invest 126:2575-87 (2016)
 DOI:<a href=""https://doi.org/10.1172/JCI85830"">10.1172/JCI85830</a>"
H01204,小脳失調・精神遅滞および平衡障害症候群 (CAMRQ),,,"Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients with CAMRQs have a severe disturbance of posture and balance, strabismus, muscular hypotonia during childhood and they have a delayed ability to walk independently. The disease is also characterized by perceptual difficulties and in most cases mild mental retardation. Four subtypes have been mapped so far.",神経系疾患,,"(CAMRQ1) VLDLR [HSA:7436] [KO:K20053]
 (CAMRQ2) WDR81 [HSA:124997] [KO:K17601]
 (CAMRQ3) CA8 [HSA:767] [KO:K01672]
 (CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 MeSH: C535731 C567656 C567690
 OMIM: 224050 610185 613227 615268","PMID:21812104
 著者        Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M
 タイトル      Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 156B:826-34 (2011)
 DOI:10.1002/ajmg.b.31227
 PMID:20199520
 著者        Melberg A, Orlen H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N
 タイトル      Re-evaluation of the dysequilibrium syndrome.
 雑誌        Acta Neurol Scand 123:28-33 (2011)
 DOI:10.1111/j.1600-0404.2010.01335.x
 PMID:19332571
 著者        Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS
 タイトル      Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
 雑誌        J Child Neurol 24:1310-5 (2009)
 DOI:10.1177/0883073809332696
 PMID:21885617
 著者        Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T
 タイトル      Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
 雑誌        Genome Res 21:1995-2003 (2011)
 DOI:10.1101/gr.126110.111
 PMID:22892528
 著者        Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T
 タイトル      Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
 雑誌        Eur J Hum Genet 21:281-5 (2013)
 DOI:10.1038/ejhg.2012.170","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01204"">H01204</a>",小脳失調・精神遅滞および平衡障害症候群 (CAMRQ),"Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients with CAMRQs have a severe disturbance of posture and balance, strabismus, muscular hypotonia during childhood and they have a delayed ability to walk independently. The disease is also characterized by perceptual difficulties and in most cases mild mental retardation. Four subtypes have been mapped so far.",,"(CAMRQ1) VLDLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7436"">7436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20053"">K20053</a>]
 (CAMRQ2) WDR81 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124997"">124997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17601"">K17601</a>]
 (CAMRQ3) CA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:767"">767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01672"">K01672</a>]
 (CAMRQ4) ATP8A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51761"">51761</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14802"">K14802</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535731"">C535731</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567656"">C567656</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567690"">C567690</a>
 OMIM: <a href=""https://www.omim.org/entry/224050"">224050</a> <a href=""https://www.omim.org/entry/610185"">610185</a> <a href=""https://www.omim.org/entry/613227"">613227</a> <a href=""https://www.omim.org/entry/615268"">615268</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21812104"">21812104</a>
 著者        Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M
 タイトル      Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 156B:826-34 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.31227"">10.1002/ajmg.b.31227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20199520"">20199520</a>
 著者        Melberg A, Orlen H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N
 タイトル      Re-evaluation of the dysequilibrium syndrome.
 雑誌        Acta Neurol Scand 123:28-33 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2010.01335.x"">10.1111/j.1600-0404.2010.01335.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19332571"">19332571</a>
 著者        Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS
 タイトル      Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
 雑誌        J Child Neurol 24:1310-5 (2009)
 DOI:<a href=""https://doi.org/10.1177/0883073809332696"">10.1177/0883073809332696</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21885617"">21885617</a>
 著者        Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T
 タイトル      Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
 雑誌        Genome Res 21:1995-2003 (2011)
 DOI:<a href=""https://doi.org/10.1101/gr.126110.111"">10.1101/gr.126110.111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22892528"">22892528</a>
 著者        Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T
 タイトル      Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
 雑誌        Eur J Hum Genet 21:281-5 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.170"">10.1038/ejhg.2012.170</a>"
H01205,ワルファリンレジスタンス,,,"Warfarin is widely prescribed anticoagulant for the prevention of thromboembolic diseases. However, its use is made difficult by the wide interindividual variation in dose required to achieve a therapeutic effect, the narrow therapeutic range, and the risk of serious bleeding. Warfarin dose requirement is influenced by factors such as intake of vitamin K, ethnicity, age, gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, CYP2C9, and GGCX cause warfarin resistance.",先天性代謝異常症,,"VKORC1 [HSA:79001] [KO:K05357]
 CYP2A6 [HSA:1548] [KO:K17683]
 CYP2C9 [HSA:1559] [KO:K17719]
 GGCX [HSA:2677] [KO:K10106]",,,,,,"MeSH: C563039
 OMIM: 122700","PMID:19952297
 著者        Osinbowale O, Al Malki M, Schade A, Bartholomew JR
 タイトル      An algorithm for managing warfarin resistance.
 雑誌        Cleve Clin J Med 76:724-30 (2009)
 DOI:10.3949/ccjm.76a.09062
 PMID:17048007
 著者        Wadelius M, Chen LY, Eriksson N, Bumpstead S, Ghori J, Wadelius C, Bentley D, McGinnis R, Deloukas P
 タイトル      Association of warfarin dose with genes involved in its action and metabolism.
 雑誌        Hum Genet 121:23-34 (2007)
 DOI:10.1007/s00439-006-0260-8
 PMID:10781881
 著者        Pelkonen O, Rautio A, Raunio H, Pasanen M
 タイトル      CYP2A6: a human coumarin 7-hydroxylase.
 雑誌        Toxicology 144:139-47 (2000)
 DOI:10.1016/S0300-483X(99)00200-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01205"">H01205</a>",ワルファリンレジスタンス,"Warfarin is widely prescribed anticoagulant for the prevention of thromboembolic diseases. However, its use is made difficult by the wide interindividual variation in dose required to achieve a therapeutic effect, the narrow therapeutic range, and the risk of serious bleeding. Warfarin dose requirement is influenced by factors such as intake of vitamin K, ethnicity, age, gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, CYP2C9, and GGCX cause warfarin resistance.",,"VKORC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79001"">79001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05357"">K05357</a>]
 CYP2A6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1548"">1548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17683"">K17683</a>]
 CYP2C9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1559"">1559</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17719"">K17719</a>]
 GGCX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2677"">2677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10106"">K10106</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563039"">C563039</a>
 OMIM: <a href=""https://www.omim.org/entry/122700"">122700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19952297"">19952297</a>
 著者        Osinbowale O, Al Malki M, Schade A, Bartholomew JR
 タイトル      An algorithm for managing warfarin resistance.
 雑誌        Cleve Clin J Med 76:724-30 (2009)
 DOI:<a href=""https://doi.org/10.3949/ccjm.76a.09062"">10.3949/ccjm.76a.09062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17048007"">17048007</a>
 著者        Wadelius M, Chen LY, Eriksson N, Bumpstead S, Ghori J, Wadelius C, Bentley D, McGinnis R, Deloukas P
 タイトル      Association of warfarin dose with genes involved in its action and metabolism.
 雑誌        Hum Genet 121:23-34 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00439-006-0260-8"">10.1007/s00439-006-0260-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10781881"">10781881</a>
 著者        Pelkonen O, Rautio A, Raunio H, Pasanen M
 タイトル      CYP2A6: a human coumarin 7-hydroxylase.
 雑誌        Toxicology 144:139-47 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0300-483X(99)00200-0"">10.1016/S0300-483X(99)00200-0</a>"
H01206,"プラスミノーゲン欠損症
 下位グループ    木質結膜炎
 プラスミノーゲン分子異常症",,,"Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency, although numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations.",,,PLG [HSA:5340] [KO:K01315],,,,,,"ICD-11: 3B50.Y
 ICD-10: L90.5
 MeSH: C566897
 OMIM: 217090","PMID:19141167
 著者        Mehta R, Shapiro AD
 タイトル      Plasminogen deficiency.
 雑誌        Haemophilia 14:1261-8 (2008)
 DOI:10.1111/j.1365-2516.2008.01825.x
 PMID:17900274
 著者        Schuster V, Hugle B, Tefs K
 タイトル      Plasminogen deficiency.
 雑誌        J Thromb Haemost 5:2315-22 (2007)
 DOI:10.1111/j.1538-7836.2007.02776.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01206"">H01206</a>","プラスミノーゲン欠損症
 下位グループ    木質結膜炎
 プラスミノーゲン分子異常症","Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency, although numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations.",,"PLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5340"">5340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01315"">K01315</a>]",,,,,,"ICD-11: 3B50.Y
 ICD-10: L90.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566897"">C566897</a>
 OMIM: <a href=""https://www.omim.org/entry/217090"">217090</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141167"">19141167</a>
 著者        Mehta R, Shapiro AD
 タイトル      Plasminogen deficiency.
 雑誌        Haemophilia 14:1261-8 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01825.x"">10.1111/j.1365-2516.2008.01825.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17900274"">17900274</a>
 著者        Schuster V, Hugle B, Tefs K
 タイトル      Plasminogen deficiency.
 雑誌        J Thromb Haemost 5:2315-22 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2007.02776.x"">10.1111/j.1538-7836.2007.02776.x</a>"
H01207,三角頭蓋症,,,Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.,先天奇形,,"(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362]
 (TRIGNO2) FREM1 [HSA:158326] [KO:K23380]",,,,,,"ICD-11: LB70.0Y
 ICD-10: Q75.0
 MeSH: D003398
 OMIM: 190440 614485","PMID:15185114
 著者        Shimoji T, Tomiyama N
 タイトル      Mild trigonocephaly and intracranial pressure: report of 56 patients.
 雑誌        Childs Nerv Syst 20:749-56 (2004)
 DOI:10.1007/s00381-004-0970-y
 PMID:11173846 (FGFR1)
 著者        Kress W, Petersen B, Collmann H, Grimm T
 タイトル      An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
 雑誌        Cytogenet Cell Genet 91:138-40 (2000)
 DOI:10.1159/000056834
 PMID:21931569 (FREM1)
 著者        Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
 タイトル      Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
 雑誌        PLoS Genet 7:e1002278 (2011)
 DOI:10.1371/journal.pgen.1002278","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01207"">H01207</a>",三角頭蓋症,Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.,,"(TRIGNO1) FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 (TRIGNO2) FREM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:158326"">158326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23380"">K23380</a>]",,,,,,"ICD-11: LB70.0Y
 ICD-10: Q75.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003398"">D003398</a>
 OMIM: <a href=""https://www.omim.org/entry/190440"">190440</a> <a href=""https://www.omim.org/entry/614485"">614485</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15185114"">15185114</a>
 著者        Shimoji T, Tomiyama N
 タイトル      Mild trigonocephaly and intracranial pressure: report of 56 patients.
 雑誌        Childs Nerv Syst 20:749-56 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00381-004-0970-y"">10.1007/s00381-004-0970-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11173846"">11173846</a> (FGFR1)
 著者        Kress W, Petersen B, Collmann H, Grimm T
 タイトル      An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
 雑誌        Cytogenet Cell Genet 91:138-40 (2000)
 DOI:<a href=""https://doi.org/10.1159/000056834"">10.1159/000056834</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21931569"">21931569</a> (FREM1)
 著者        Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
 タイトル      Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
 雑誌        PLoS Genet 7:e1002278 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002278"">10.1371/journal.pgen.1002278</a>"
H01208,"頭部円形精子症
 上位グループ    精子形成異常 [DS:H01282]",,,"Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.",生殖系疾患,,"SPATA16 [HSA:83893]
 DPY19L2 [HSA:283417] [KO:K24553]",,,,,"Disruption of several mouse genes, including GOPC, HRB, and CSNK2A2, results in a phenotype similar to globozoospermia in humans. However, no causative gene mutations have been identified in these orthologues. Recently, a newly discovered mutation in PICK1 in a human with globozoospermia was reported.","ICD-11: GB04.Y
 ICD-10: N46
 OMIM: 102530 613958","PMID:17847006 (SPATA16)
 著者        Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S
 タイトル      Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
 雑誌        Am J Hum Genet 81:813-20 (2007)
 DOI:10.1086/521314
 PMID:21397064 (DPY19L2)
 著者        Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sele B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF
 タイトル      A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
 雑誌        Am J Hum Genet 88:351-61 (2011)
 DOI:10.1016/j.ajhg.2011.02.007
 PMID:20562896
 著者        Liu G, Shi QW, Lu GX
 タイトル      A newly discovered mutation in PICK1 in a human with globozoospermia.
 雑誌        Asian J Androl 12:556-60 (2010)
 DOI:10.1038/aja.2010.47","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01208"">H01208</a>","頭部円形精子症
 上位グループ    精子形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01282"">H01282</a>]","Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.",,"SPATA16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83893"">83893</a>]
 DPY19L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283417"">283417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24553"">K24553</a>]",,,,,"Disruption of several mouse genes, including GOPC, HRB, and CSNK2A2, results in a phenotype similar to globozoospermia in humans. However, no causative gene mutations have been identified in these orthologues. Recently, a newly discovered mutation in PICK1 in a human with globozoospermia was reported.","ICD-11: GB04.Y
 ICD-10: N46
 OMIM: <a href=""https://www.omim.org/entry/102530"">102530</a> <a href=""https://www.omim.org/entry/613958"">613958</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17847006"">17847006</a> (SPATA16)
 著者        Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S
 タイトル      Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
 雑誌        Am J Hum Genet 81:813-20 (2007)
 DOI:<a href=""https://doi.org/10.1086/521314"">10.1086/521314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21397064"">21397064</a> (DPY19L2)
 著者        Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sele B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF
 タイトル      A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
 雑誌        Am J Hum Genet 88:351-61 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.007"">10.1016/j.ajhg.2011.02.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20562896"">20562896</a>
 著者        Liu G, Shi QW, Lu GX
 タイトル      A newly discovered mutation in PICK1 in a human with globozoospermia.
 雑誌        Asian J Androl 12:556-60 (2010)
 DOI:<a href=""https://doi.org/10.1038/aja.2010.47"">10.1038/aja.2010.47</a>"
H01209,遺伝性難聴 (X連鎖),,,"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.",神経系疾患,,"(DFNX1) PRPS1 [HSA:5631] [KO:K00948]
 (DFNX2) POU3F4 [HSA:5456] [KO:K09365]
 (DFNX4) SMPX [HSA:23676] [KO:K24209]
 (DFNX5) AIFM1 [HSA:9131] [KO:K04727]
 (DFNX6) COL4A6 [HSA:1288] [KO:K06237]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: C564433 C536424 C564727 C564723 C564472
 OMIM: 304500 304400 300066 300614 300914","PMID:16446920
 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
 DOI:10.1590/S0034-72992005000200016
 PMID:20021999
 著者        Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H
 タイトル      Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
 雑誌        Am J Hum Genet 86:65-71 (2010)
 DOI:10.1016/j.ajhg.2009.11.015
 PMID:19671658
 著者        Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK
 タイトル      Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
 雑誌        Physiol Genomics 39:195-201 (2009)
 DOI:10.1152/physiolgenomics.00100.2009
 PMID:22911656
 著者        Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL
 タイトル      A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
 雑誌        Hum Mutat 34:66-9 (2013)
 DOI:10.1002/humu.22205
 PMID:25986071
 著者        Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q
 タイトル      Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
 雑誌        J Med Genet 52:523-31 (2015)
 DOI:10.1136/jmedgenet-2014-102961
 PMID:23714752
 著者        Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E
 タイトル      Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
 雑誌        Eur J Hum Genet 22:208-15 (2014)
 DOI:10.1038/ejhg.2013.108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01209"">H01209</a>",遺伝性難聴 (X連鎖),"Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.",,"(DFNX1) PRPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5631"">5631</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00948"">K00948</a>]
 (DFNX2) POU3F4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5456"">5456</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09365"">K09365</a>]
 (DFNX4) SMPX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23676"">23676</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24209"">K24209</a>]
 (DFNX5) AIFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9131"">9131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04727"">K04727</a>]
 (DFNX6) COL4A6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1288"">1288</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564433"">C564433</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536424"">C536424</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564727"">C564727</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564723"">C564723</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564472"">C564472</a>
 OMIM: <a href=""https://www.omim.org/entry/304500"">304500</a> <a href=""https://www.omim.org/entry/304400"">304400</a> <a href=""https://www.omim.org/entry/300066"">300066</a> <a href=""https://www.omim.org/entry/300614"">300614</a> <a href=""https://www.omim.org/entry/300914"">300914</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16446920"">16446920</a>
 著者        Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
 タイトル      Molecular genetics of non-syndromic deafness.
 雑誌        Braz J Otorhinolaryngol 71:216-23 (2005)
 DOI:<a href=""https://doi.org/10.1590/S0034-72992005000200016"">10.1590/S0034-72992005000200016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20021999"">20021999</a>
 著者        Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H
 タイトル      Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
 雑誌        Am J Hum Genet 86:65-71 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.11.015"">10.1016/j.ajhg.2009.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19671658"">19671658</a>
 著者        Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK
 タイトル      Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
 雑誌        Physiol Genomics 39:195-201 (2009)
 DOI:<a href=""https://doi.org/10.1152/physiolgenomics.00100.2009"">10.1152/physiolgenomics.00100.2009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22911656"">22911656</a>
 著者        Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL
 タイトル      A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
 雑誌        Hum Mutat 34:66-9 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22205"">10.1002/humu.22205</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25986071"">25986071</a>
 著者        Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q
 タイトル      Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
 雑誌        J Med Genet 52:523-31 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102961"">10.1136/jmedgenet-2014-102961</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23714752"">23714752</a>
 著者        Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E
 タイトル      Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
 雑誌        Eur J Hum Genet 22:208-15 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.108"">10.1038/ejhg.2013.108</a>"
H01210,"低マグネシウム血症
 下位グループ    低マグネシウム血症、てんかんおよび精神遅滞 (HOMGSMR)",,,"Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution from extracellular to intracellular space.",先天性代謝異常症,,"(HOMG1) TRPM6 [HSA:140803] [KO:K04981]
 (HOMG2) FXYD2 [HSA:486] [KO:K01538]
 (HOMG3) CLDN16 [HSA:10686] [KO:K06087]
 (HOMG4) EGF [HSA:1950] [KO:K04357]
 (HOMG5) CLDN19 [HSA:149461] [KO:K06087]
 (HOMG6/HOMGSMR1) CNNM2 [HSA:54805] [KO:K16302]
 (HOMGSMR2) ATP1A1 [HSA:476] [KO:K01539]",,,,硫酸マグネシウム水和物 [DR:D01108],,"ICD-11: 5C64.41
 ICD-10: E83.4
 MeSH: C566593 C537152 C537153 C564024 C567127
 OMIM: 602014 154020 248250 611718 248190 613882 616418 618314","PMID:20081299
 著者        Assadi F
 タイトル      Hypomagnesemia: an evidence-based approach to clinical cases.
 雑誌        Iran J Kidney Dis 4:13-9 (2010)
 PMID:23942199 (HOMG1)
 著者        Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG
 タイトル      New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
 雑誌        Eur J Hum Genet 22:497-504 (2014)
 DOI:10.1038/ejhg.2013.178
 PMID:25765846 (HOMG2)
 著者        de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV
 タイトル      Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
 雑誌        Nephrol Dial Transplant 30:952-7 (2015)
 DOI:10.1093/ndt/gfv014
 PMID:22422540 (HOMG3_5)
 著者        Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R
 タイトル      Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
 雑誌        Clin J Am Soc Nephrol 7:801-9 (2012)
 DOI:10.2215/CJN.12841211
 PMID:17671655 (HOMG4)
 著者        Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ
 タイトル      Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
 雑誌        J Clin Invest 117:2260-7 (2007)
 DOI:10.1172/JCI31680
 PMID:21397062 (HOMG6)
 著者        Stuiver M, Lainez S, Will C, Terryn S, Gunzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Nemec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Muller D
 タイトル      CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
 雑誌        Am J Hum Genet 88:333-43 (2011)
 DOI:10.1016/j.ajhg.2011.02.005
 PMID:24699222 (HOMGSMR1)
 著者        Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG
 タイトル      CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
 雑誌        PLoS Genet 10:e1004267 (2014)
 DOI:10.1371/journal.pgen.1004267
 PMID:30388404 (HOMGSMR2)
 著者        Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, Konig J, Lee JJY, Drogemoller B, Imminger K, Beck BB, Altmuller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M
 タイトル      Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
 雑誌        Am J Hum Genet 103:808-816 (2018)
 DOI:10.1016/j.ajhg.2018.10.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01210"">H01210</a>","低マグネシウム血症
 下位グループ    低マグネシウム血症、てんかんおよび精神遅滞 (HOMGSMR)","Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution from extracellular to intracellular space.",,"(HOMG1) TRPM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:140803"">140803</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04981"">K04981</a>]
 (HOMG2) FXYD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:486"">486</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01538"">K01538</a>]
 (HOMG3) CLDN16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10686"">10686</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 (HOMG4) EGF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1950"">1950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04357"">K04357</a>]
 (HOMG5) CLDN19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149461"">149461</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 (HOMG6/HOMGSMR1) CNNM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54805"">54805</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16302"">K16302</a>]
 (HOMGSMR2) ATP1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:476"">476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]",,,,"硫酸マグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01108"">D01108</a>]",,"ICD-11: 5C64.41
 ICD-10: E83.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566593"">C566593</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537152"">C537152</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537153"">C537153</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564024"">C564024</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567127"">C567127</a>
 OMIM: <a href=""https://www.omim.org/entry/602014"">602014</a> <a href=""https://www.omim.org/entry/154020"">154020</a> <a href=""https://www.omim.org/entry/248250"">248250</a> <a href=""https://www.omim.org/entry/611718"">611718</a> <a href=""https://www.omim.org/entry/248190"">248190</a> <a href=""https://www.omim.org/entry/613882"">613882</a> <a href=""https://www.omim.org/entry/616418"">616418</a> <a href=""https://www.omim.org/entry/618314"">618314</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20081299"">20081299</a>
 著者        Assadi F
 タイトル      Hypomagnesemia: an evidence-based approach to clinical cases.
 雑誌        Iran J Kidney Dis 4:13-9 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23942199"">23942199</a> (HOMG1)
 著者        Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG
 タイトル      New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
 雑誌        Eur J Hum Genet 22:497-504 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.178"">10.1038/ejhg.2013.178</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25765846"">25765846</a> (HOMG2)
 著者        de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV
 タイトル      Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
 雑誌        Nephrol Dial Transplant 30:952-7 (2015)
 DOI:<a href=""https://doi.org/10.1093/ndt/gfv014"">10.1093/ndt/gfv014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22422540"">22422540</a> (HOMG3_5)
 著者        Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R
 タイトル      Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
 雑誌        Clin J Am Soc Nephrol 7:801-9 (2012)
 DOI:<a href=""https://doi.org/10.2215/CJN.12841211"">10.2215/CJN.12841211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17671655"">17671655</a> (HOMG4)
 著者        Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ
 タイトル      Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
 雑誌        J Clin Invest 117:2260-7 (2007)
 DOI:<a href=""https://doi.org/10.1172/JCI31680"">10.1172/JCI31680</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21397062"">21397062</a> (HOMG6)
 著者        Stuiver M, Lainez S, Will C, Terryn S, Gunzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Nemec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Muller D
 タイトル      CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
 雑誌        Am J Hum Genet 88:333-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.02.005"">10.1016/j.ajhg.2011.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24699222"">24699222</a> (HOMGSMR1)
 著者        Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG
 タイトル      CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
 雑誌        PLoS Genet 10:e1004267 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004267"">10.1371/journal.pgen.1004267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30388404"">30388404</a> (HOMGSMR2)
 著者        Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, Konig J, Lee JJY, Drogemoller B, Imminger K, Beck BB, Altmuller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M
 タイトル      Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
 雑誌        Am J Hum Genet 103:808-816 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.004"">10.1016/j.ajhg.2018.10.004</a>"
H01211,重症新生児脳症,,,"MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome.",先天奇形,,MECP2 [HSA:4204] [KO:K11588],,,,,Rett syndrome is described in H00440. [DS:H00440],"ICD-11: KB03
 ICD-10: Q02
 MeSH: C580273
 OMIM: 300673","PMID:11930274
 著者        Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC
 タイトル      MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
 雑誌        Neuropediatrics 33:33-6 (2002)
 DOI:10.1055/s-2002-23598
 PMID:11071498
 著者        Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M
 タイトル      Two affected boys in a Rett syndrome family: clinical and molecular findings.
 雑誌        Neurology 55:1188-93 (2000)
 DOI:10.1212/WNL.55.8.1188
 PMID:20425298
 著者        Gonzales ML, LaSalle JM
 タイトル      The role of MeCP2 in brain development and neurodevelopmental disorders.
 雑誌        Curr Psychiatry Rep 12:127-34 (2010)
 DOI:10.1007/s11920-010-0097-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01211"">H01211</a>",重症新生児脳症,"MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome.",,"MECP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4204"">4204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11588"">K11588</a>]",,,,,"Rett syndrome is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00440."">H00440.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00440"">H00440</a>]","ICD-11: KB03
 ICD-10: Q02
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580273"">C580273</a>
 OMIM: <a href=""https://www.omim.org/entry/300673"">300673</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11930274"">11930274</a>
 著者        Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC
 タイトル      MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
 雑誌        Neuropediatrics 33:33-6 (2002)
 DOI:<a href=""https://doi.org/10.1055/s-2002-23598"">10.1055/s-2002-23598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11071498"">11071498</a>
 著者        Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M
 タイトル      Two affected boys in a Rett syndrome family: clinical and molecular findings.
 雑誌        Neurology 55:1188-93 (2000)
 DOI:<a href=""https://doi.org/10.1212/WNL.55.8.1188"">10.1212/WNL.55.8.1188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425298"">20425298</a>
 著者        Gonzales ML, LaSalle JM
 タイトル      The role of MeCP2 in brain development and neurodevelopmental disorders.
 雑誌        Curr Psychiatry Rep 12:127-34 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11920-010-0097-7"">10.1007/s11920-010-0097-7</a>"
H01212,ニューロセルピン封入体を持つ家族性脳症,,,Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits.,,,SERPINI1 [HSA:5274] [KO:K23412],,,,,,"ICD-11: 8A61.41
 MeSH: C536841
 OMIM: 604218","PMID:10517635
 著者        Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA
 タイトル      Familial dementia caused by polymerization of mutant neuroserpin.
 雑誌        Nature 401:376-9 (1999)
 DOI:10.1038/43894
 PMID:11880376
 著者        Belorgey D, Crowther DC, Mahadeva R, Lomas DA
 タイトル      Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro.
 雑誌        J Biol Chem 277:17367-73 (2002)
 DOI:10.1074/jbc.M200680200
 PMID:19164889
 著者        Belorgey D, Hagglof P, Karlsson-Li S, Lomas DA
 タイトル      Protein misfolding and the serpinopathies.
 雑誌        Prion 1:15-20 (2007)
 DOI:10.4161/pri.1.1.3974","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01212"">H01212</a>",ニューロセルピン封入体を持つ家族性脳症,Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits.,,"SERPINI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5274"">5274</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23412"">K23412</a>]",,,,,,"ICD-11: 8A61.41
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536841"">C536841</a>
 OMIM: <a href=""https://www.omim.org/entry/604218"">604218</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10517635"">10517635</a>
 著者        Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA
 タイトル      Familial dementia caused by polymerization of mutant neuroserpin.
 雑誌        Nature 401:376-9 (1999)
 DOI:<a href=""https://doi.org/10.1038/43894"">10.1038/43894</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11880376"">11880376</a>
 著者        Belorgey D, Crowther DC, Mahadeva R, Lomas DA
 タイトル      Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro.
 雑誌        J Biol Chem 277:17367-73 (2002)
 DOI:<a href=""https://doi.org/10.1074/jbc.M200680200"">10.1074/jbc.M200680200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19164889"">19164889</a>
 著者        Belorgey D, Hagglof P, Karlsson-Li S, Lomas DA
 タイトル      Protein misfolding and the serpinopathies.
 雑誌        Prion 1:15-20 (2007)
 DOI:<a href=""https://doi.org/10.4161/pri.1.1.3974"">10.4161/pri.1.1.3974</a>"
H01213,"胆のう疾患
 下位グループ    胆のう炎
 胆石症",,,"Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis and cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine secretion is associated with gallstones. Recently, several common DNA polymorphisms in the ABCG8 gene were discovered that are associated with gallstone disease.",消化器系疾患,,"ABCB4 [HSA:5244] [KO:K05659]
 ABCG8 [HSA:64241] [KO:K05684]",,,,"ブチルスコポラミン臭化物 [DR:D01451]
 ブトロピウム臭化物 [DR:D01491]
 硫酸マグネシウム水和物 [DR:D01108]
 ピペリドレート塩酸塩 [DR:D01165]
 フロプロピオン [DR:D01259]
 レボフロキサシン水和物 [DR:D00588]
 ケノデオキシコール酸 [DR:D00163]
 トレピブトン [DR:D01365]
 茵蔯蒿湯 [DR:D06917]
 柴胡桂枝湯エキス [DR:D06964]
 四逆散 [DR:D06973]
 大柴胡湯エキス [DR:D07004]
 大柴胡湯去大黄 [DR:D07005]
 アズトレオナム [DR:D00240]
 チゲサイクリン [DR:D01079]
 セファゾリンナトリウム [DR:D00905]
 セフメタゾールナトリウム [DR:D00911]
 セフォタキシムナトリウム [DR:D00919]
 セフタジジム水和物 [DR:D00921]
 セフトリアキソンナトリウム水和物 [DR:D00924]
 セフィキシム水和物 [DR:D07640]
 セフジトレンピボキシル [DR:D01628]
 セフェピム塩酸塩水和物 [DR:D01157]
 フロモキセフナトリウム [DR:D01473]
 セフォペラゾンナトリウム・スルバクタムナトリウム [DR:D08772]
 メロペネム水和物 [DR:D02222]
 ドリペネム水和物 [DR:D01836]
 イミペネム・シラスタチンナトリウム [DR:D00344]
 パニペネム・ベタミプロン [DR:D02509]
 セフトロザン硫酸塩・タゾバクタムナトリウム [DR:D10577]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 シプロフロキサシン [DR:D00186]
 シプロフロキサシン塩酸塩水和物 [DR:D02216]
 プルリフロキサシン [DR:D01144]",,"ICD-11: DC11 DC12
 ICD-10: K80 K81.9
 MeSH: D005705
 OMIM: 600803 611465","PMID:15696852
 著者        vanBerge-Henegouwen GP, Venneman NG, Portincasa P, Kosters A, van Erpecum KJ, Groen AK
 タイトル      Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease.
 雑誌        Scand J Gastroenterol Suppl 60-9 (2004)
 DOI:10.1080/00855920410011022
 PMID:20594224
 著者        Siddapuram SP, Mahurkar S, Duvvuru NR, Mitnala S, Guduru VR, Rebala P, Mansard MJ
 タイトル      Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population.
 雑誌        J Gastroenterol Hepatol 25:1093-8 (2010)
 DOI:10.1111/j.1440-1746.2010.06309.x
 PMID:17562004
 著者        Rosmorduc O, Poupon R
 タイトル      Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
 雑誌        Orphanet J Rare Dis 2:29 (2007)
 DOI:10.1186/1750-1172-2-29
 PMID:19803550
 著者        Gaby AR
 タイトル      Nutritional approaches to prevention and treatment of gallstones.
 雑誌        Altern Med Rev 14:258-67 (2009)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01213"">H01213</a>","胆のう疾患
 下位グループ    胆のう炎
 胆石症","Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis and cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine secretion is associated with gallstones. Recently, several common DNA polymorphisms in the ABCG8 gene were discovered that are associated with gallstone disease.",,"ABCB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5244"">5244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05659"">K05659</a>]
 ABCG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64241"">64241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05684"">K05684</a>]",,,,"ブチルスコポラミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01451"">D01451</a>]
 ブトロピウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01491"">D01491</a>]
 硫酸マグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01108"">D01108</a>]
 ピペリドレート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01165"">D01165</a>]
 フロプロピオン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01259"">D01259</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 ケノデオキシコール酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00163"">D00163</a>]
 トレピブトン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01365"">D01365</a>]
 茵蔯蒿湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06917"">D06917</a>]
 柴胡桂枝湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06964"">D06964</a>]
 四逆散 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06973"">D06973</a>]
 大柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07004"">D07004</a>]
 大柴胡湯去大黄 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07005"">D07005</a>]
 アズトレオナム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00240"">D00240</a>]
 チゲサイクリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01079"">D01079</a>]
 セファゾリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00905"">D00905</a>]
 セフメタゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00911"">D00911</a>]
 セフォタキシムナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00919"">D00919</a>]
 セフタジジム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00921"">D00921</a>]
 セフトリアキソンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00924"">D00924</a>]
 セフィキシム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07640"">D07640</a>]
 セフジトレンピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01628"">D01628</a>]
 セフェピム塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01157"">D01157</a>]
 フロモキセフナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01473"">D01473</a>]
 セフォペラゾンナトリウム・スルバクタムナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08772"">D08772</a>]
 メロペネム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02222"">D02222</a>]
 ドリペネム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01836"">D01836</a>]
 イミペネム・シラスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00344"">D00344</a>]
 パニペネム・ベタミプロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02509"">D02509</a>]
 セフトロザン硫酸塩・タゾバクタムナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10577"">D10577</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 シプロフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00186"">D00186</a>]
 シプロフロキサシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02216"">D02216</a>]
 プルリフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01144"">D01144</a>]",,"ICD-11: DC11 DC12
 ICD-10: K80 K81.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005705"">D005705</a>
 OMIM: <a href=""https://www.omim.org/entry/600803"">600803</a> <a href=""https://www.omim.org/entry/611465"">611465</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15696852"">15696852</a>
 著者        vanBerge-Henegouwen GP, Venneman NG, Portincasa P, Kosters A, van Erpecum KJ, Groen AK
 タイトル      Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease.
 雑誌        Scand J Gastroenterol Suppl 60-9 (2004)
 DOI:<a href=""https://doi.org/10.1080/00855920410011022"">10.1080/00855920410011022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20594224"">20594224</a>
 著者        Siddapuram SP, Mahurkar S, Duvvuru NR, Mitnala S, Guduru VR, Rebala P, Mansard MJ
 タイトル      Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population.
 雑誌        J Gastroenterol Hepatol 25:1093-8 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1746.2010.06309.x"">10.1111/j.1440-1746.2010.06309.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17562004"">17562004</a>
 著者        Rosmorduc O, Poupon R
 タイトル      Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
 雑誌        Orphanet J Rare Dis 2:29 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-29"">10.1186/1750-1172-2-29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19803550"">19803550</a>
 著者        Gaby AR
 タイトル      Nutritional approaches to prevention and treatment of gallstones.
 雑誌        Altern Med Rev 14:258-67 (2009)"
H01214,Rh欠損症候群,,,"Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein.",,,RHAG [HSA:6005] [KO:K06580],,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: 268150","PMID:10467273
 著者        Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
 タイトル      Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
 雑誌        Am J Hematol 62:25-32 (1999)
 DOI:10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO;2-K
 PMID:9442063
 著者        Huang CH
 タイトル      The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease.
 雑誌        J Biol Chem 273:2207-13 (1998)
 DOI:10.1074/jbc.273.4.2207","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01214"">H01214</a>",Rh欠損症候群,"Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein.",,"RHAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6005"">6005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06580"">K06580</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/268150"">268150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10467273"">10467273</a>
 著者        Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
 タイトル      Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
 雑誌        Am J Hematol 62:25-32 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8652(199909)62:"">10.1002/(SICI)1096-8652(199909)62:</a><a href=""https://doi.org/1<25:"">1<25:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJH5>3.0.CO;2-K"">AID-AJH5>3.0.CO;2-K</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9442063"">9442063</a>
 著者        Huang CH
 タイトル      The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease.
 雑誌        J Biol Chem 273:2207-13 (1998)
 DOI:<a href=""https://doi.org/10.1074/jbc.273.4.2207"">10.1074/jbc.273.4.2207</a>"
H01215,"Simpson-Golabi-Behmel 症候群
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:H00493]",,,"Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS are type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1.",先天奇形,,"(SGBS1) GPC3 [HSA:2719] [KO:K08109]
 (SGBS2) OFD1 [HSA:8481] [KO:K16480]",,,,,"Simpson-Golabi-Behmel syndrome, type 1 is also described in Heparan sulfate proteoglycan gene defects. [DS:H00493]","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C537340
 OMIM: 312870 300209","PMID:11286501
 著者        DeBaun MR, Ess J, Saunders S
 タイトル      Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
 雑誌        Mol Genet Metab 72:279-86 (2001)
 DOI:10.1006/mgme.2001.3150
 PMID:8589713 (GPC3)
 著者        Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D
 タイトル      Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
 雑誌        Nat Genet 12:241-7 (1996)
 DOI:10.1038/ng0396-241
 PMID:16783569 (OFD1)
 著者        Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH
 タイトル      A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
 雑誌        Hum Genet 120:171-8 (2006)
 DOI:10.1007/s00439-006-0210-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01215"">H01215</a>","Simpson-Golabi-Behmel 症候群
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS are type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1.",,"(SGBS1) GPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2719"">2719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08109"">K08109</a>]
 (SGBS2) OFD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8481"">8481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16480"">K16480</a>]",,,,,"Simpson-Golabi-Behmel syndrome, type 1 is also described in Heparan sulfate proteoglycan gene defects. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537340"">C537340</a>
 OMIM: <a href=""https://www.omim.org/entry/312870"">312870</a> <a href=""https://www.omim.org/entry/300209"">300209</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11286501"">11286501</a>
 著者        DeBaun MR, Ess J, Saunders S
 タイトル      Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
 雑誌        Mol Genet Metab 72:279-86 (2001)
 DOI:<a href=""https://doi.org/10.1006/mgme.2001.3150"">10.1006/mgme.2001.3150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8589713"">8589713</a> (GPC3)
 著者        Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D
 タイトル      Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
 雑誌        Nat Genet 12:241-7 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0396-241"">10.1038/ng0396-241</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16783569"">16783569</a> (OFD1)
 著者        Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH
 タイトル      A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
 雑誌        Hum Genet 120:171-8 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-006-0210-5"">10.1007/s00439-006-0210-5</a>"
H01216,左室緻密化障害,,,"Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2).",心臓病,,"(LVNC1) DTNA [HSA:1837]
 (LVNC3) LDB3/ZASP [HSA:11155] [KO:K19867]
 (LVNC4) ACTC1 [HSA:70] [KO:K12314]
 (LVNC5) MYH7 [HSA:4625] [KO:K17751]
 (LVNC6) TNNT2 [HSA:7139] [KO:K12045]
 (LVNC7) MIB1 [HSA:57534] [KO:K10645]
 (LVNC8) PRDM16 [HSA:63976] [KO:K22410]
 (LVNC9) TPM1 [HSA:7168] [KO:K10373]
 (LVNC10) MYBPC3 [HSA:4607] [KO:K12568]",,,,,,"ICD-11: BC44
 ICD-10: I42.8
 MeSH: D056830
 OMIM: 604169 601493 613424 613426 601494 615092 615373 611878 615396","PMID:19057090
 著者        Ichida F
 タイトル      Left ventricular noncompaction.
 雑誌        Circ J 73:19-26 (2009)
 DOI:10.1253/circj.CJ-08-0995
 PMID:19318934
 著者        Pantazis AA, Elliott PM
 タイトル      Left ventricular noncompaction.
 雑誌        Curr Opin Cardiol 24:209-13 (2009)
 DOI:10.1097/HCO.0b013e32832a11e7
 PMID:21638988
 著者        Antonio M, Costa C, Venancio M, Martins P, Dionisio T, Pires A, Sousa G, Santos I, Mota A, Duarte R, Costa H, Ribeiro L, Saraiva J, Castela E
 タイトル      Left ventricular noncompaction: analysis of a pediatric population.
 雑誌        Rev Port Cardiol 30:295-311 (2011)
 PMID:21285074
 著者        Oechslin E, Jenni R
 タイトル      Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
 雑誌        Eur Heart J 32:1446-56 (2011)
 DOI:10.1093/eurheartj/ehq508","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01216"">H01216</a>",左室緻密化障害,"Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2).",,"(LVNC1) DTNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1837"">1837</a>]
 (LVNC3) LDB3/ZASP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11155"">11155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19867"">K19867</a>]
 (LVNC4) ACTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:70"">70</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12314"">K12314</a>]
 (LVNC5) MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]
 (LVNC6) TNNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7139"">7139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12045"">K12045</a>]
 (LVNC7) MIB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57534"">57534</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10645"">K10645</a>]
 (LVNC8) PRDM16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63976"">63976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22410"">K22410</a>]
 (LVNC9) TPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7168"">7168</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10373"">K10373</a>]
 (LVNC10) MYBPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4607"">4607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12568"">K12568</a>]",,,,,,"ICD-11: BC44
 ICD-10: I42.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056830"">D056830</a>
 OMIM: <a href=""https://www.omim.org/entry/604169"">604169</a> <a href=""https://www.omim.org/entry/601493"">601493</a> <a href=""https://www.omim.org/entry/613424"">613424</a> <a href=""https://www.omim.org/entry/613426"">613426</a> <a href=""https://www.omim.org/entry/601494"">601494</a> <a href=""https://www.omim.org/entry/615092"">615092</a> <a href=""https://www.omim.org/entry/615373"">615373</a> <a href=""https://www.omim.org/entry/611878"">611878</a> <a href=""https://www.omim.org/entry/615396"">615396</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19057090"">19057090</a>
 著者        Ichida F
 タイトル      Left ventricular noncompaction.
 雑誌        Circ J 73:19-26 (2009)
 DOI:<a href=""https://doi.org/10.1253/circj.CJ-08-0995"">10.1253/circj.CJ-08-0995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19318934"">19318934</a>
 著者        Pantazis AA, Elliott PM
 タイトル      Left ventricular noncompaction.
 雑誌        Curr Opin Cardiol 24:209-13 (2009)
 DOI:<a href=""https://doi.org/10.1097/HCO.0b013e32832a11e7"">10.1097/HCO.0b013e32832a11e7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21638988"">21638988</a>
 著者        Antonio M, Costa C, Venancio M, Martins P, Dionisio T, Pires A, Sousa G, Santos I, Mota A, Duarte R, Costa H, Ribeiro L, Saraiva J, Castela E
 タイトル      Left ventricular noncompaction: analysis of a pediatric population.
 雑誌        Rev Port Cardiol 30:295-311 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21285074"">21285074</a>
 著者        Oechslin E, Jenni R
 タイトル      Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
 雑誌        Eur Heart J 32:1446-56 (2011)
 DOI:<a href=""https://doi.org/10.1093/eurheartj/ehq508"">10.1093/eurheartj/ehq508</a>"
H01217,原発性限局性皮膚アミロイド症,,,"Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions comprise small, flat-top papules (lichen amyloidosis) or brown-gray macules (macular amyloidosis). PLCA is relatively common in South America and Asia, and some cases have an autosomal dominant family history (familial PLCA, FPLCA). The genetic basis of FPLCA involves mutations in the OSMR and IL31RA genes. Both belong to the family of interleukin (IL)-6 family cytokine receptors.",皮膚疾患,,"(PLCA1) OSMR [HSA:9180] [KO:K05057]
 (PLCA2) IL31RA [HSA:133396] [KO:K22630]
 (PLCA3) GPNMB [HSA:10457] [KO:K20732]",,,,,,"ICD-11: 5D00.0
 MeSH: C562642
 OMIM: 105250 613955 617920","PMID:20507362
 著者        Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA
 タイトル      The molecular skin pathology of familial primary localized cutaneous amyloidosis.
 雑誌        Exp Dermatol 19:416-23 (2010)
 DOI:10.1111/j.1600-0625.2010.01083.x
 PMID:19375894
 著者        Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H
 タイトル      A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
 雑誌        J Dermatol Sci 55:64-5 (2009)
 DOI:10.1016/j.jdermsci.2009.03.003
 PMID:29336782
 著者        Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
 タイトル      Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
 雑誌        Am J Hum Genet 102:219-232 (2018)
 DOI:10.1016/j.ajhg.2017.12.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01217"">H01217</a>",原発性限局性皮膚アミロイド症,"Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions comprise small, flat-top papules (lichen amyloidosis) or brown-gray macules (macular amyloidosis). PLCA is relatively common in South America and Asia, and some cases have an autosomal dominant family history (familial PLCA, FPLCA). The genetic basis of FPLCA involves mutations in the OSMR and IL31RA genes. Both belong to the family of interleukin (IL)-6 family cytokine receptors.",,"(PLCA1) OSMR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9180"">9180</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05057"">K05057</a>]
 (PLCA2) IL31RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:133396"">133396</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22630"">K22630</a>]
 (PLCA3) GPNMB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10457"">10457</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20732"">K20732</a>]",,,,,,"ICD-11: 5D00.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562642"">C562642</a>
 OMIM: <a href=""https://www.omim.org/entry/105250"">105250</a> <a href=""https://www.omim.org/entry/613955"">613955</a> <a href=""https://www.omim.org/entry/617920"">617920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20507362"">20507362</a>
 著者        Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA
 タイトル      The molecular skin pathology of familial primary localized cutaneous amyloidosis.
 雑誌        Exp Dermatol 19:416-23 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0625.2010.01083.x"">10.1111/j.1600-0625.2010.01083.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19375894"">19375894</a>
 著者        Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H
 タイトル      A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
 雑誌        J Dermatol Sci 55:64-5 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2009.03.003"">10.1016/j.jdermsci.2009.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29336782"">29336782</a>
 著者        Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
 タイトル      Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
 雑誌        Am J Hum Genet 102:219-232 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.12.012"">10.1016/j.ajhg.2017.12.012</a>"
H01218,P14 欠損症,,,"The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. This protein is an adaptor molecule orchestrating the subcellular anatomy of MAP kinase signaling, and is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes.",原発性免疫不全症候群,,MAPBPIP [HSA:28956] [KO:K20398],,,,,,"ICD-11: 4B00.00
 ICD-10: D70
 OMIM: 610798","PMID:20004777
 著者        Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J
 タイトル      Primary immunodeficiencies: 2009 update.
 雑誌        J Allergy Clin Immunol 124:1161-78 (2009)
 DOI:10.1016/j.jaci.2009.10.013
 PMID:19811314
 著者        Rezaei N, Moazzami K, Aghamohammadi A, Klein C
 タイトル      Neutropenia and primary immunodeficiency diseases.
 雑誌        Int Rev Immunol 28:335-66 (2009)
 DOI:10.1080/08830180902995645
 PMID:17195838
 著者        Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C
 タイトル      A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
 雑誌        Nat Med 13:38-45 (2007)
 DOI:10.1038/nm1528","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01218"">H01218</a>",P14 欠損症,"The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. This protein is an adaptor molecule orchestrating the subcellular anatomy of MAP kinase signaling, and is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes.",,"MAPBPIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28956"">28956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20398"">K20398</a>]",,,,,,"ICD-11: 4B00.00
 ICD-10: D70
 OMIM: <a href=""https://www.omim.org/entry/610798"">610798</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20004777"">20004777</a>
 著者        Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J
 タイトル      Primary immunodeficiencies: 2009 update.
 雑誌        J Allergy Clin Immunol 124:1161-78 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2009.10.013"">10.1016/j.jaci.2009.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19811314"">19811314</a>
 著者        Rezaei N, Moazzami K, Aghamohammadi A, Klein C
 タイトル      Neutropenia and primary immunodeficiency diseases.
 雑誌        Int Rev Immunol 28:335-66 (2009)
 DOI:<a href=""https://doi.org/10.1080/08830180902995645"">10.1080/08830180902995645</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17195838"">17195838</a>
 著者        Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C
 タイトル      A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
 雑誌        Nat Med 13:38-45 (2007)
 DOI:<a href=""https://doi.org/10.1038/nm1528"">10.1038/nm1528</a>"
H01219,拘束性心筋症,,,"Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes.",心臓病,,"(RCM1) TNNI3 [HSA:7137] [KO:K12044]
 (RCM3) TNNT2 [HSA:7139] [KO:K12045]
 (RCM4) MYPN [HSA:84665] [KO:K22028]
 (RCM5) FLNC [HSA:2318] [KO:K04437]
 (RCM6) KIF20A [HSA:10112] [KO:K10402]
 DES [HSA:1674] [KO:K07610]
 ACTC1 [HSA:70] [KO:K12314]",,,,,,"ICD-11: BC43.2
 ICD-10: I42
 OMIM: 115210 612422 615248 617047 619433","PMID:20617149 (RCM1, RCM3)
 著者        Parvatiyar MS, Pinto JR, Dweck D, Potter JD
 タイトル      Cardiac troponin mutations and restrictive cardiomyopathy.
 雑誌        J Biomed Biotechnol 2010:350706 (2010)
 DOI:10.1155/2010/350706
 PMID:15201162 (RCM1, RCM3)
 著者        Gomes AV, Potter JD
 タイトル      Molecular and cellular aspects of troponin cardiomyopathies.
 雑誌        Ann N Y Acad Sci 1015:214-24 (2004)
 DOI:10.1196/annals.1302.018
 PMID:22286171 (RCM4)
 著者        Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA
 タイトル      Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
 雑誌        Hum Mol Genet 21:2039-53 (2012)
 DOI:10.1093/hmg/dds022
 PMID:26666891 (RCM5)
 著者        Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B
 タイトル      Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
 雑誌        Hum Mutat 37:269-79 (2016)
 DOI:10.1002/humu.22942
 PMID:29357359 (RCM6)
 著者        Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K
 タイトル      Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
 雑誌        PLoS Genet 14:e1007138 (2018)
 DOI:10.1371/journal.pgen.1007138
 PMID:18646564 (DES)
 著者        Arimura T, Hayashi T, Kimura A
 タイトル      Molecular etiology of idiopathic cardiomyopathy.
 雑誌        Acta Myol 26:153-8 (2007)
 PMID:18467357 (ACTC)
 著者        Kaski JP, Syrris P, Burch M, Tome-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM
 タイトル      Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
 雑誌        Heart 94:1478-84 (2008)
 DOI:10.1136/hrt.2007.134684","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01219"">H01219</a>",拘束性心筋症,"Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes.",,"(RCM1) TNNI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7137"">7137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12044"">K12044</a>]
 (RCM3) TNNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7139"">7139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12045"">K12045</a>]
 (RCM4) MYPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84665"">84665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22028"">K22028</a>]
 (RCM5) FLNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2318"">2318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (RCM6) KIF20A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10112"">10112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10402"">K10402</a>]
 DES [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1674"">1674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07610"">K07610</a>]
 ACTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:70"">70</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12314"">K12314</a>]",,,,,,"ICD-11: BC43.2
 ICD-10: I42
 OMIM: <a href=""https://www.omim.org/entry/115210"">115210</a> <a href=""https://www.omim.org/entry/612422"">612422</a> <a href=""https://www.omim.org/entry/615248"">615248</a> <a href=""https://www.omim.org/entry/617047"">617047</a> <a href=""https://www.omim.org/entry/619433"">619433</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20617149"">20617149</a> (RCM1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RCM3)"">RCM3)</a>
 著者        Parvatiyar MS, Pinto JR, Dweck D, Potter JD
 タイトル      Cardiac troponin mutations and restrictive cardiomyopathy.
 雑誌        J Biomed Biotechnol 2010:350706 (2010)
 DOI:<a href=""https://doi.org/10.1155/2010/350706"">10.1155/2010/350706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15201162"">15201162</a> (RCM1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RCM3)"">RCM3)</a>
 著者        Gomes AV, Potter JD
 タイトル      Molecular and cellular aspects of troponin cardiomyopathies.
 雑誌        Ann N Y Acad Sci 1015:214-24 (2004)
 DOI:<a href=""https://doi.org/10.1196/annals.1302.018"">10.1196/annals.1302.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22286171"">22286171</a> (RCM4)
 著者        Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA
 タイトル      Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
 雑誌        Hum Mol Genet 21:2039-53 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds022"">10.1093/hmg/dds022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26666891"">26666891</a> (RCM5)
 著者        Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B
 タイトル      Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
 雑誌        Hum Mutat 37:269-79 (2016)
 DOI:<a href=""https://doi.org/10.1002/humu.22942"">10.1002/humu.22942</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29357359"">29357359</a> (RCM6)
 著者        Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K
 タイトル      Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
 雑誌        PLoS Genet 14:e1007138 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007138"">10.1371/journal.pgen.1007138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18646564"">18646564</a> (DES)
 著者        Arimura T, Hayashi T, Kimura A
 タイトル      Molecular etiology of idiopathic cardiomyopathy.
 雑誌        Acta Myol 26:153-8 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18467357"">18467357</a> (ACTC)
 著者        Kaski JP, Syrris P, Burch M, Tome-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM
 タイトル      Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
 雑誌        Heart 94:1478-84 (2008)
 DOI:<a href=""https://doi.org/10.1136/hrt.2007.134684"">10.1136/hrt.2007.134684</a>"
H01220,先天性白内障・顔貌異常およびニューロパチー,,,"Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay.",先天奇形,,CTDP1 [HSA:9150] [KO:K15732],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C565822
 OMIM: 604168","PMID:21824574
 著者        Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E
 タイトル      Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
 雑誌        Pediatr Neurol 45:206-8 (2011)
 DOI:10.1016/j.pediatrneurol.2011.05.008
 PMID:16939648
 著者        Kalaydjieva L
 タイトル      Congenital cataracts-facial dysmorphism-neuropathy.
 雑誌        Orphanet J Rare Dis 1:32 (2006)
 DOI:10.1186/1750-1172-1-32
 PMID:16194727
 著者        Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA
 タイトル      Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
 雑誌        Pediatr Neurol 33:277-9 (2005)
 DOI:10.1016/j.pediatrneurol.2005.04.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01220"">H01220</a>",先天性白内障・顔貌異常およびニューロパチー,"Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay.",,"CTDP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9150"">9150</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15732"">K15732</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565822"">C565822</a>
 OMIM: <a href=""https://www.omim.org/entry/604168"">604168</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21824574"">21824574</a>
 著者        Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E
 タイトル      Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
 雑誌        Pediatr Neurol 45:206-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2011.05.008"">10.1016/j.pediatrneurol.2011.05.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16939648"">16939648</a>
 著者        Kalaydjieva L
 タイトル      Congenital cataracts-facial dysmorphism-neuropathy.
 雑誌        Orphanet J Rare Dis 1:32 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-32"">10.1186/1750-1172-1-32</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16194727"">16194727</a>
 著者        Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA
 タイトル      Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
 雑誌        Pediatr Neurol 33:277-9 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2005.04.011"">10.1016/j.pediatrneurol.2005.04.011</a>"
H01221,角膜上皮基底膜変性症,,,"Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of vision due to surface irregularity.",神経系疾患,,TGFBI [HSA:7045] [KO:K19519],,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: C535477
 OMIM: 121820","PMID:16652336
 著者        Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF
 タイトル      A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
 雑誌        Hum Mutat 27:553-7 (2006)
 DOI:10.1002/humu.20331","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01221"">H01221</a>",角膜上皮基底膜変性症,"Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of vision due to surface irregularity.",,"TGFBI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7045"">7045</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19519"">K19519</a>]",,,,,,"ICD-11: 9A70.Y
 ICD-10: H18.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535477"">C535477</a>
 OMIM: <a href=""https://www.omim.org/entry/121820"">121820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16652336"">16652336</a>
 著者        Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF
 タイトル      A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
 雑誌        Hum Mutat 27:553-7 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20331"">10.1002/humu.20331</a>"
H01222,"カウデン症候群
 上位グループ    PTEN過誤腫症候群 [DS:H00539]",,,"Cowden syndrome (CS) is an autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly. Germ line PTEN mutations have been found in 85% of those with CS. A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD.",先天奇形,,"(CWS1) PTEN [HSA:5728] [KO:K01110]
 (CWS2) SDHB [HSA:6390] [KO:K00235]
 (CWS3) SDHD [HSA:6392] [KO:K00237]
 (CWS4) KLLN [HSA:100144748] [KO:K23389]
 (CWS5) PIK3CA [HSA:5290] [KO:K00922]
 (CWS6) AKT1 [HSA:207] [KO:K04456]
 (CWS7) SEC23B [HSA:10483] [KO:K14006]",,,,,,"ICD-11: LD2D.Y
 ICD-10: Q85.9
 MeSH: D006223
 OMIM: 158350 612359 615106 615107 615108 615109 616858","PMID:10353779 (PTEN)
 著者        Celebi JT, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl MG, Kezis J, Peacocke M
 タイトル      Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
 雑誌        J Med Genet 36:360-4 (1999)
 DOI:10.1136/jmg.36.5.360
 PMID:18678321 (SDHB, SDHD)
 著者        Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C
 タイトル      Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
 雑誌        Am J Hum Genet 83:261-8 (2008)
 DOI:10.1016/j.ajhg.2008.07.011
 PMID:21177507 (KLLN)
 著者        Bennett KL, Mester J, Eng C
 タイトル      Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
 雑誌        JAMA 304:2724-31 (2010)
 DOI:10.1001/jama.2010.1877
 PMID:23246288 (PIK3CA, AKT1)
 著者        Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C
 タイトル      Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
 雑誌        Am J Hum Genet 92:76-80 (2013)
 DOI:10.1016/j.ajhg.2012.10.021
 PMID:26522472 (SEC23B)
 著者        Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
 タイトル      Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
 雑誌        Am J Hum Genet 97:661-76 (2015)
 DOI:10.1016/j.ajhg.2015.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01222"">H01222</a>","カウデン症候群
 上位グループ    PTEN過誤腫症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00539"">H00539</a>]","Cowden syndrome (CS) is an autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly. Germ line PTEN mutations have been found in 85% of those with CS. A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD.",,"(CWS1) PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 (CWS2) SDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6390"">6390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00235"">K00235</a>]
 (CWS3) SDHD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6392"">6392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00237"">K00237</a>]
 (CWS4) KLLN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100144748"">100144748</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23389"">K23389</a>]
 (CWS5) PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 (CWS6) AKT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:207"">207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 (CWS7) SEC23B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10483"">10483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14006"">K14006</a>]",,,,,,"ICD-11: LD2D.Y
 ICD-10: Q85.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006223"">D006223</a>
 OMIM: <a href=""https://www.omim.org/entry/158350"">158350</a> <a href=""https://www.omim.org/entry/612359"">612359</a> <a href=""https://www.omim.org/entry/615106"">615106</a> <a href=""https://www.omim.org/entry/615107"">615107</a> <a href=""https://www.omim.org/entry/615108"">615108</a> <a href=""https://www.omim.org/entry/615109"">615109</a> <a href=""https://www.omim.org/entry/616858"">616858</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10353779"">10353779</a> (PTEN)
 著者        Celebi JT, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl MG, Kezis J, Peacocke M
 タイトル      Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
 雑誌        J Med Genet 36:360-4 (1999)
 DOI:<a href=""https://doi.org/10.1136/jmg.36.5.360"">10.1136/jmg.36.5.360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18678321"">18678321</a> (SDHB, <a href=""https://pubmed.ncbi.nlm.nih.gov/SDHD)"">SDHD)</a>
 著者        Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C
 タイトル      Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
 雑誌        Am J Hum Genet 83:261-8 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.07.011"">10.1016/j.ajhg.2008.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21177507"">21177507</a> (KLLN)
 著者        Bennett KL, Mester J, Eng C
 タイトル      Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
 雑誌        JAMA 304:2724-31 (2010)
 DOI:<a href=""https://doi.org/10.1001/jama.2010.1877"">10.1001/jama.2010.1877</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23246288"">23246288</a> (PIK3CA, <a href=""https://pubmed.ncbi.nlm.nih.gov/AKT1)"">AKT1)</a>
 著者        Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C
 タイトル      Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
 雑誌        Am J Hum Genet 92:76-80 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.021"">10.1016/j.ajhg.2012.10.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26522472"">26522472</a> (SEC23B)
 著者        Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
 タイトル      Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
 雑誌        Am J Hum Genet 97:661-76 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.10.001"">10.1016/j.ajhg.2015.10.001</a>"
H01223,"常同性運動・てんかん および/または大脳奇形を伴う精神遅滞;
 5q14.3 欠失症候群",,,"Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME.",染色体異常,,MEF2C [HSA:4208] [KO:K04454],,,,,,"ICD-11: LD44.50
 ICD-10: Q93.5
 OMIM: 613443","PMID:19592390
 著者        Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J, Bonneau D
 タイトル      MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
 雑誌        J Med Genet 47:22-9 (2010)
 DOI:10.1136/jmg.2009.069732","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01223"">H01223</a>","常同性運動・てんかん および/または大脳奇形を伴う精神遅滞;
 5q14.3 欠失症候群","Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME.",,"MEF2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4208"">4208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04454"">K04454</a>]",,,,,,"ICD-11: LD44.50
 ICD-10: Q93.5
 OMIM: <a href=""https://www.omim.org/entry/613443"">613443</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19592390"">19592390</a>
 著者        Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J, Bonneau D
 タイトル      MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
 雑誌        J Med Genet 47:22-9 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.069732"">10.1136/jmg.2009.069732</a>"
H01224,Ketosis-prone diabetes mellitus,,,"Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups, based on the presence of glutamic acid decarboxylase (GAD)65, GAD67, or IA-2 autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Homozygous carriers of the PAX4 R133W variant have an increased risk of KPD.",,,PAX4 [HSA:5078] [KO:K08032],,,,,,"OMIM: 612227
 MeSH: D003922","PMID:16652336
 著者        Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF
 タイトル      A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
 雑誌        Hum Mutat 27:553-7 (2006)
 DOI:10.1002/humu.20331
 PMID:14602731
 著者        Maldonado M, Hampe CS, Gaur LK, D'Amico S, Iyer D, Hammerle LP, Bolgiano D, Rodriguez L, Rajan A, Lernmark A, Balasubramanyam A
 タイトル      Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes.
 雑誌        J Clin Endocrinol Metab 88:5090-8 (2003)
 DOI:10.1210/jc.2003-030180
 PMID:15509590
 著者        Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C
 タイトル      PAX4 gene variations predispose to ketosis-prone diabetes.
 雑誌        Hum Mol Genet 13:3151-9 (2004)
 DOI:10.1093/hmg/ddh341","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01224"">H01224</a>",Ketosis-prone diabetes mellitus,"Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups, based on the presence of glutamic acid decarboxylase (GAD)65, GAD67, or IA-2 autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Homozygous carriers of the PAX4 R133W variant have an increased risk of KPD.",,"PAX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5078"">5078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08032"">K08032</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/612227"">612227</a>
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003922"">D003922</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16652336"">16652336</a>
 著者        Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF
 タイトル      A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
 雑誌        Hum Mutat 27:553-7 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20331"">10.1002/humu.20331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14602731"">14602731</a>
 著者        Maldonado M, Hampe CS, Gaur LK, D'Amico S, Iyer D, Hammerle LP, Bolgiano D, Rodriguez L, Rajan A, Lernmark A, Balasubramanyam A
 タイトル      Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes.
 雑誌        J Clin Endocrinol Metab 88:5090-8 (2003)
 DOI:<a href=""https://doi.org/10.1210/jc.2003-030180"">10.1210/jc.2003-030180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15509590"">15509590</a>
 著者        Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C
 タイトル      PAX4 gene variations predispose to ketosis-prone diabetes.
 雑誌        Hum Mol Genet 13:3151-9 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh341"">10.1093/hmg/ddh341</a>"
H01225,D-2ヒドロキシグルタル酸尿症,,,"D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported.",先天性代謝異常症,,"D2HGDH [HSA:728294] [KO:K18204]
 IDH2 [HSA:3418] [KO:K00031]",,,,,,"ICD-11: 5C50.E1
 MeSH: C535306
 OMIM: 613657 600721","PMID:15609246
 著者        Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C
 タイトル      Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
 雑誌        Am J Hum Genet 76:358-60 (2005)
 DOI:10.1086/427890
 PMID:16601864
 著者        Struys EA
 タイトル      D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
 雑誌        J Inherit Metab Dis 29:21-9 (2006)
 DOI:10.1007/s10545-006-0317-9
 PMID:20847235
 著者        Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS
 タイトル      IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
 雑誌        Science 330:336 (2010)
 DOI:10.1126/science.1192632","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01225"">H01225</a>",D-2ヒドロキシグルタル酸尿症,"D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported.",,"D2HGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:728294"">728294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18204"">K18204</a>]
 IDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3418"">3418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]",,,,,,"ICD-11: 5C50.E1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535306"">C535306</a>
 OMIM: <a href=""https://www.omim.org/entry/613657"">613657</a> <a href=""https://www.omim.org/entry/600721"">600721</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15609246"">15609246</a>
 著者        Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C
 タイトル      Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
 雑誌        Am J Hum Genet 76:358-60 (2005)
 DOI:<a href=""https://doi.org/10.1086/427890"">10.1086/427890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16601864"">16601864</a>
 著者        Struys EA
 タイトル      D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
 雑誌        J Inherit Metab Dis 29:21-9 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10545-006-0317-9"">10.1007/s10545-006-0317-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20847235"">20847235</a>
 著者        Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS
 タイトル      IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
 雑誌        Science 330:336 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1192632"">10.1126/science.1192632</a>"
H01226,"多合指症;
 軸前母指側多指 IV 型
 上位グループ    軸前母指側多指(趾) [DS:H02332]",,,"Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated thumbs, and syndactyly of the third and fourth fingers. GLI3 is regarded as a mediator of sonic hedgehog signaling regulating development at multiple sites such as the limbs, the lungs, and the brain.",先天奇形,,GLI3 [HSA:2737] [KO:K06230],,,,,,"ICD-11: LB78.1
 ICD-10: Q70.4
 MeSH: C536333
 OMIM: 174700","PMID:15811011
 著者        Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y
 タイトル      Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
 雑誌        Clin Genet 67:429-33 (2005)
 DOI:10.1111/j.1399-0004.2005.00431.x
 PMID:10441570
 著者        Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE
 タイトル      The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
 雑誌        Am J Hum Genet 65:645-55 (1999)
 DOI:10.1086/302557
 PMID:17661744
 著者        Paparidis Z, Abbasi AA, Malik S, Goode DK, Callaway H, Elgar G, deGraaff E, Lopez-Rios J, Zeller R, Grzeschik KH
 タイトル      Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression.
 雑誌        Dev Growth Differ 49:543-53 (2007)
 DOI:10.1111/j.1440-169X.2007.00954.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01226"">H01226</a>","多合指症;
 軸前母指側多指 IV 型
 上位グループ    軸前母指側多指(趾) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02332"">H02332</a>]","Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated thumbs, and syndactyly of the third and fourth fingers. GLI3 is regarded as a mediator of sonic hedgehog signaling regulating development at multiple sites such as the limbs, the lungs, and the brain.",,"GLI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2737"">2737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06230"">K06230</a>]",,,,,,"ICD-11: LB78.1
 ICD-10: Q70.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536333"">C536333</a>
 OMIM: <a href=""https://www.omim.org/entry/174700"">174700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15811011"">15811011</a>
 著者        Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y
 タイトル      Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
 雑誌        Clin Genet 67:429-33 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2005.00431.x"">10.1111/j.1399-0004.2005.00431.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10441570"">10441570</a>
 著者        Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE
 タイトル      The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
 雑誌        Am J Hum Genet 65:645-55 (1999)
 DOI:<a href=""https://doi.org/10.1086/302557"">10.1086/302557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17661744"">17661744</a>
 著者        Paparidis Z, Abbasi AA, Malik S, Goode DK, Callaway H, Elgar G, deGraaff E, Lopez-Rios J, Zeller R, Grzeschik KH
 タイトル      Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression.
 雑誌        Dev Growth Differ 49:543-53 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1440-169X.2007.00954.x"">10.1111/j.1440-169X.2007.00954.x</a>"
H01227,"炎症性腸疾患 (IBD)
 下位グループ    クローン病 [DS:H00286]
 潰瘍性大腸炎 [DS:H01466]",,,"Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders are manifested in adolescence or adulthood, however, they may present in infancy and may be inherited as an autosomal recessive trait. It has been reported that mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine. Additional genes associated with the disease have been identified.",免疫系疾患,,"(IBD1) NOD2 (polymorphism) [HSA:64127] [KO:K10165]
 (IBD10) ATG16L1 (polymorphism) [HSA:55054] [KO:K17890]
 (IBD13) ABCB1 (polymorphism) [HSA:5243] [KO:K05658]
 (IBD14) IRF5 (polymorphism) [HSA:3663] [KO:K09446]
 (IBD17) IL23R (polymorphism) [HSA:149233] [KO:K05065]
 (IBD19) IRGM (polymorphism) [HSA:345611] [KO:K14139]
 (IBD25) IL10RB [HSA:3588] [KO:K05135]
 (IBD28) IL10RA [HSA:3587] [KO:K05134]
 (IBD29) INAVA [HSA:55765]
 (IBD30) CARD8 [HSA:22900] [KO:K12801]
 IL10 (polymorphism) [HSA:3586] [KO:K05443]
 MST1 (polymorphism) [HSA:4485] [KO:K23441]",,,,,,"ICD-11: DD70 DD71 DD72
 MeSH: D015212
 OMIM: 266600 611081 612241 612244 612245 612261 612278 612567 613148 618077 619079","PMID:11385576
 著者        Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G
 タイトル      Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
 雑誌        Nature 411:599-603 (2001)
 DOI:10.1038/35079107
 PMID:19890111
 著者        Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C
 タイトル      Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
 雑誌        N Engl J Med 361:2033-45 (2009)
 DOI:10.1056/NEJMoa0907206
 PMID:22236434
 著者        Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B
 タイトル      IL-10 and IL-10 receptor defects in humans.
 雑誌        Ann N Y Acad Sci 1246:102-7 (2011)
 DOI:10.1111/j.1749-6632.2011.06339.x
 PMID:19923578
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:10.1056/NEJMra0804647
 PMID:26339135 (drug)
 著者        de Mattos BR, Garcia MP, Nogueira JB, Paiatto LN, Albuquerque CG, Souza CL, Fernandes LG, Tamashiro WM, Simioni PU
 タイトル      Inflammatory Bowel Disease: An Overview of Immune Mechanisms and Biological Treatments.
 雑誌        Mediators Inflamm 2015:493012 (2015)
 DOI:10.1155/2015/493012
 PMID:26600980 (drug)
 著者        Akiho H, Yokoyama A, Abe S, Nakazono Y, Murakami M, Otsuka Y, Fukawa K, Esaki M, Niina Y, Ogino H
 タイトル      Promising biological therapies for ulcerative colitis: A review of the literature.
 雑誌        World J Gastrointest Pathophysiol 6:219-27 (2015)
 DOI:10.4291/wjgp.v6.i4.219
 PMID:26284562 (drug)
 著者        Danese S, Vuitton L, Peyrin-Biroulet L
 タイトル      Biologic agents for IBD: practical insights.
 雑誌        Nat Rev Gastroenterol Hepatol 12:537-45 (2015)
 DOI:10.1038/nrgastro.2015.135
 PMID:28436939
 著者        Yan J, Hedl M, Abraham C
 タイトル      An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.
 雑誌        J Clin Invest 127:2192-2205 (2017)
 DOI:10.1172/JCI86282
 PMID:29408806
 著者        Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W
 タイトル      Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn&#39;s disease.
 雑誌        J Clin Invest 128:1793-1806 (2018)
 DOI:10.1172/JCI98642","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01227"">H01227</a>","炎症性腸疾患 (IBD)
 下位グループ    クローン病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00286"">H00286</a>]
 潰瘍性大腸炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01466"">H01466</a>]","Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders are manifested in adolescence or adulthood, however, they may present in infancy and may be inherited as an autosomal recessive trait. It has been reported that mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine. Additional genes associated with the disease have been identified.",,"(IBD1) NOD2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64127"">64127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10165"">K10165</a>]
 (IBD10) ATG16L1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55054"">55054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17890"">K17890</a>]
 (IBD13) ABCB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5243"">5243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05658"">K05658</a>]
 (IBD14) IRF5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3663"">3663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09446"">K09446</a>]
 (IBD17) IL23R (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149233"">149233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05065"">K05065</a>]
 (IBD19) IRGM (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:345611"">345611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14139"">K14139</a>]
 (IBD25) IL10RB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3588"">3588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05135"">K05135</a>]
 (IBD28) IL10RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3587"">3587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05134"">K05134</a>]
 (IBD29) INAVA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55765"">55765</a>]
 (IBD30) CARD8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22900"">22900</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12801"">K12801</a>]
 IL10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 MST1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4485"">4485</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23441"">K23441</a>]",,,,,,"ICD-11: DD70 DD71 DD72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015212"">D015212</a>
 OMIM: <a href=""https://www.omim.org/entry/266600"">266600</a> <a href=""https://www.omim.org/entry/611081"">611081</a> <a href=""https://www.omim.org/entry/612241"">612241</a> <a href=""https://www.omim.org/entry/612244"">612244</a> <a href=""https://www.omim.org/entry/612245"">612245</a> <a href=""https://www.omim.org/entry/612261"">612261</a> <a href=""https://www.omim.org/entry/612278"">612278</a> <a href=""https://www.omim.org/entry/612567"">612567</a> <a href=""https://www.omim.org/entry/613148"">613148</a> <a href=""https://www.omim.org/entry/618077"">618077</a> <a href=""https://www.omim.org/entry/619079"">619079</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11385576"">11385576</a>
 著者        Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G
 タイトル      Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
 雑誌        Nature 411:599-603 (2001)
 DOI:<a href=""https://doi.org/10.1038/35079107"">10.1038/35079107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19890111"">19890111</a>
 著者        Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C
 タイトル      Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
 雑誌        N Engl J Med 361:2033-45 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0907206"">10.1056/NEJMoa0907206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22236434"">22236434</a>
 著者        Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B
 タイトル      IL-10 and IL-10 receptor defects in humans.
 雑誌        Ann N Y Acad Sci 1246:102-7 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2011.06339.x"">10.1111/j.1749-6632.2011.06339.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19923578"">19923578</a>
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0804647"">10.1056/NEJMra0804647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26339135"">26339135</a> (drug)
 著者        de Mattos BR, Garcia MP, Nogueira JB, Paiatto LN, Albuquerque CG, Souza CL, Fernandes LG, Tamashiro WM, Simioni PU
 タイトル      Inflammatory Bowel Disease: An Overview of Immune Mechanisms and Biological Treatments.
 雑誌        Mediators Inflamm 2015:493012 (2015)
 DOI:<a href=""https://doi.org/10.1155/2015/493012"">10.1155/2015/493012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26600980"">26600980</a> (drug)
 著者        Akiho H, Yokoyama A, Abe S, Nakazono Y, Murakami M, Otsuka Y, Fukawa K, Esaki M, Niina Y, Ogino H
 タイトル      Promising biological therapies for ulcerative colitis: A review of the literature.
 雑誌        World J Gastrointest Pathophysiol 6:219-27 (2015)
 DOI:<a href=""https://doi.org/10.4291/wjgp.v6.i4.219"">10.4291/wjgp.v6.i4.219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26284562"">26284562</a> (drug)
 著者        Danese S, Vuitton L, Peyrin-Biroulet L
 タイトル      Biologic agents for IBD: practical insights.
 雑誌        Nat Rev Gastroenterol Hepatol 12:537-45 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrgastro.2015.135"">10.1038/nrgastro.2015.135</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28436939"">28436939</a>
 著者        Yan J, Hedl M, Abraham C
 タイトル      An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.
 雑誌        J Clin Invest 127:2192-2205 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI86282"">10.1172/JCI86282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29408806"">29408806</a>
 著者        Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W
 タイトル      Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn&#39;s disease.
 雑誌        J Clin Invest 128:1793-1806 (2018)
 DOI:<a href=""https://doi.org/10.1172/JCI98642"">10.1172/JCI98642</a>"
H01228,タイプ A インスリン受容体異常症,,,"Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes hirsutism and polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:H00719] and the Rabson-Mendenhall syndrome [DS:H00942] also have mutations in INSR with subsequent alterations in insulin receptor function and extreme insulin resistance.",,,INSR [HSA:3643] [KO:K04527],,,,メカセルミン [DR:D03297],,"ICD-11: 5A13.1
 ICD-10: E11
 MeSH: C562710
 OMIM: 610549","PMID:22187472
 タイトル      Diagnosis and classification of diabetes mellitus.
 雑誌        Diabetes Care 35 Suppl 1:S64-71 (2012)
 DOI:10.2337/dc12-s064
 PMID:15232309
 著者        Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P
 タイトル      Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
 雑誌        Medicine (Baltimore) 83:209-22 (2004)
 DOI:10.1097/01.md.0000133625.73570.54","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01228"">H01228</a>",タイプ A インスリン受容体異常症,"Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes hirsutism and polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00719"">H00719</a>] and the Rabson-Mendenhall syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00942"">H00942</a>] also have mutations in INSR with subsequent alterations in insulin receptor function and extreme insulin resistance.",,"INSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3643"">3643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04527"">K04527</a>]",,,,"メカセルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03297"">D03297</a>]",,"ICD-11: 5A13.1
 ICD-10: E11
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562710"">C562710</a>
 OMIM: <a href=""https://www.omim.org/entry/610549"">610549</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22187472"">22187472</a>
 タイトル      Diagnosis and classification of diabetes mellitus.
 雑誌        Diabetes Care 35 Suppl 1:S64-71 (2012)
 DOI:<a href=""https://doi.org/10.2337/dc12-s064"">10.2337/dc12-s064</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15232309"">15232309</a>
 著者        Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P
 タイトル      Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
 雑誌        Medicine (Baltimore) 83:209-22 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.md.0000133625.73570.54"">10.1097/01.md.0000133625.73570.54</a>"
H01229,Inclusion body myopathy 3,,,"Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K). This region is important for myosin functioning during muscle contraction, because it undergoes conformational changes during adenosine triphosphate (ATP) hydrolysis. Clinical characteristics include congenital joint contractures, a progressive course in adulthood, and external ophthalmoplegia.",神経系疾患; 筋骨格疾患,,MYH2 [HSA:4620] [KO:K24220],,,,,,"ICD-11: 4A41.2
 ICD-10: G71.8
 MeSH: C538330
 OMIM: 605637","PMID:11889243
 著者        Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlstrom J, Oldfors A
 タイトル      Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
 雑誌        Neurology 58:780-6 (2002)
 DOI:10.1212/WNL.58.5.780
 PMID:17434305
 著者        Oldfors A
 タイトル      Hereditary myosin myopathies.
 雑誌        Neuromuscul Disord 17:355-67 (2007)
 DOI:10.1016/j.nmd.2007.02.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01229"">H01229</a>",Inclusion body myopathy 3,"Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K). This region is important for myosin functioning during muscle contraction, because it undergoes conformational changes during adenosine triphosphate (ATP) hydrolysis. Clinical characteristics include congenital joint contractures, a progressive course in adulthood, and external ophthalmoplegia.",,"MYH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4620"">4620</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24220"">K24220</a>]",,,,,,"ICD-11: 4A41.2
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538330"">C538330</a>
 OMIM: <a href=""https://www.omim.org/entry/605637"">605637</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11889243"">11889243</a>
 著者        Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlstrom J, Oldfors A
 タイトル      Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
 雑誌        Neurology 58:780-6 (2002)
 DOI:<a href=""https://doi.org/10.1212/WNL.58.5.780"">10.1212/WNL.58.5.780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17434305"">17434305</a>
 著者        Oldfors A
 タイトル      Hereditary myosin myopathies.
 雑誌        Neuromuscul Disord 17:355-67 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2007.02.008"">10.1016/j.nmd.2007.02.008</a>"
H01230,成人発症型常染色体優性白質ジストロフィー,,,"Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype is similar to that of multiple sclerosis, ADLD neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. It has been reported that ADLD can be caused by a tandem genomic duplication resulting in an extra copy of the lamin B1 gene.",,,LMNB1 [HSA:4001] [KO:K07611],,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2 G35
 MeSH: C566813
 OMIM: 169500","PMID:16951681
 著者        Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH
 タイトル      Lamin B1 duplications cause autosomal dominant leukodystrophy.
 雑誌        Nat Genet 38:1114-23 (2006)
 DOI:10.1038/ng1872","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01230"">H01230</a>",成人発症型常染色体優性白質ジストロフィー,"Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype is similar to that of multiple sclerosis, ADLD neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. It has been reported that ADLD can be caused by a tandem genomic duplication resulting in an extra copy of the lamin B1 gene.",,"LMNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4001"">4001</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07611"">K07611</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2 G35
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566813"">C566813</a>
 OMIM: <a href=""https://www.omim.org/entry/169500"">169500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16951681"">16951681</a>
 著者        Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH
 タイトル      Lamin B1 duplications cause autosomal dominant leukodystrophy.
 雑誌        Nat Genet 38:1114-23 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1872"">10.1038/ng1872</a>"
H01231,ビオチン依存性大脳基底核症,,,"Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3.",先天性代謝異常症,,SLC19A3 [HSA:80704] [KO:K14610],,,,,,"ICD-11: 5C63.Y
 MeSH: C537658
 OMIM: 607483","PMID:15871139
 著者        Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF
 タイトル      Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
 雑誌        Am J Hum Genet 77:16-26 (2005)
 DOI:10.1086/431216","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01231"">H01231</a>",ビオチン依存性大脳基底核症,"Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3.",,"SLC19A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80704"">80704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14610"">K14610</a>]",,,,,,"ICD-11: 5C63.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537658"">C537658</a>
 OMIM: <a href=""https://www.omim.org/entry/607483"">607483</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15871139"">15871139</a>
 著者        Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF
 タイトル      Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
 雑誌        Am J Hum Genet 77:16-26 (2005)
 DOI:<a href=""https://doi.org/10.1086/431216"">10.1086/431216</a>"
H01232,"症候群性多臓器自己免疫疾患
 下位グループ    顔異形を伴う多臓器自己免疫疾患 (ADMFD)
 自己免疫性間質性肺疾患、関節疾患、および腎疾患 (AILJK)
 自己免疫疾患感受性 (AIS)",,,"Syndromic multisystem autoimmune disease is a group of hereditary disorders that have a number of clinical features in addition to autoimmune disease. For example, ADMFD is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver and gut.",免疫系疾患,,"(ADMFD) ITCH [HSA:83737] [KO:K05632]
 (AILJK) COPA [HSA:1314] [KO:K05236]
 (AIS6) SIAE [HSA:54414] [KO:K05970]",,,,,,"ICD-11: 4A43.Y
 MeSH: D001327
 OMIM: 613385 616414 613551","PMID:20170897 (ADMFD)
 著者        Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG
 タイトル      Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
 雑誌        Am J Hum Genet 86:447-53 (2010)
 DOI:10.1016/j.ajhg.2010.01.028
 PMID:25894502 (AILJK)
 著者        Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK
 タイトル      COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
 雑誌        Nat Genet 47:654-60 (2015)
 DOI:10.1038/ng.3279
 PMID:20555325 (AIS6)
 著者        Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S
 タイトル      Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
 雑誌        Nature 466:243-7 (2010)
 DOI:10.1038/nature09115","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01232"">H01232</a>","症候群性多臓器自己免疫疾患
 下位グループ    顔異形を伴う多臓器自己免疫疾患 (ADMFD)
 自己免疫性間質性肺疾患、関節疾患、および腎疾患 (AILJK)
 自己免疫疾患感受性 (AIS)","Syndromic multisystem autoimmune disease is a group of hereditary disorders that have a number of clinical features in addition to autoimmune disease. For example, ADMFD is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver and gut.",,"(ADMFD) ITCH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83737"">83737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05632"">K05632</a>]
 (AILJK) COPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1314"">1314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05236"">K05236</a>]
 (AIS6) SIAE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54414"">54414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05970"">K05970</a>]",,,,,,"ICD-11: 4A43.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001327"">D001327</a>
 OMIM: <a href=""https://www.omim.org/entry/613385"">613385</a> <a href=""https://www.omim.org/entry/616414"">616414</a> <a href=""https://www.omim.org/entry/613551"">613551</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170897"">20170897</a> (ADMFD)
 著者        Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG
 タイトル      Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
 雑誌        Am J Hum Genet 86:447-53 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.028"">10.1016/j.ajhg.2010.01.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25894502"">25894502</a> (AILJK)
 著者        Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK
 タイトル      COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
 雑誌        Nat Genet 47:654-60 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3279"">10.1038/ng.3279</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20555325"">20555325</a> (AIS6)
 著者        Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S
 タイトル      Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
 雑誌        Nature 466:243-7 (2010)
 DOI:<a href=""https://doi.org/10.1038/nature09115"">10.1038/nature09115</a>"
H01233,ウロカナーゼ欠損症,,,"Urocanase deficiency is an autosomal recessive disoder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of urocanase of the liver. Patients sometimes display ataxia.",先天性代謝異常症,,UROC1 [HSA:131669] [KO:K01712],,,,,,"ICD-11: 5C50.21
 ICD-10: E70.8
 MeSH: C536479
 OMIM: 276880","PMID:19304569
 著者        Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R
 タイトル      Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
 雑誌        J Med Genet 46:407-11 (2009)
 DOI:10.1136/jmg.2008.060632
 PMID:5124677
 著者        Yoshida T, Tada K, Honda Y, Arakawa T
 タイトル      Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
 雑誌        Tohoku J Exp Med 104:305-12 (1971)
 DOI:10.1620/tjem.104.305","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01233"">H01233</a>",ウロカナーゼ欠損症,"Urocanase deficiency is an autosomal recessive disoder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of urocanase of the liver. Patients sometimes display ataxia.",,"UROC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:131669"">131669</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01712"">K01712</a>]",,,,,,"ICD-11: 5C50.21
 ICD-10: E70.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536479"">C536479</a>
 OMIM: <a href=""https://www.omim.org/entry/276880"">276880</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19304569"">19304569</a>
 著者        Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R
 タイトル      Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
 雑誌        J Med Genet 46:407-11 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.060632"">10.1136/jmg.2008.060632</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5124677"">5124677</a>
 著者        Yoshida T, Tada K, Honda Y, Arakawa T
 タイトル      Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
 雑誌        Tohoku J Exp Med 104:305-12 (1971)
 DOI:<a href=""https://doi.org/10.1620/tjem.104.305"">10.1620/tjem.104.305</a>"
H01234,トリメチルアミン尿症,,,"Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion of trimethylamine (TMA) in the breath, sweat, urine, and reproductive fluids. Primary TMAU is most often caused by a functional defect of flavin mono-oxygenase 3 (FMO3), and the genetic disorder is inherited in an autosomal recessive manner as a consequence of mutations in the FMO3 gene. Secondary TMAU has been described in patients with severe liver disease (which is the major site of activity of the FMO3 enzyme) and chronic renal disease (as a consequence of bacterial overgrowth in the gut), and in patients treated with large doses of betaine or possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation.",先天性代謝異常症,,FMO3 [HSA:2328] [KO:K00485],,,,,,"ICD-11: 5C50.G
 ICD-10: E88.8
 MeSH: C536561
 OMIM: 602079","PMID:21276117
 著者        Christodoulou J
 タイトル      Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.
 雑誌        J Paediatr Child Health 48:E153-5 (2012)
 DOI:10.1111/j.1440-1754.2010.01978.x
 PMID:22126753
 著者        Shephard EA, Treacy EP, Phillips IR
 タイトル      Clinical utility gene card for: trimethylaminuria.
 雑誌        Eur J Hum Genet 20:ejhg2011214 (2012)
 DOI:10.1038/ejhg.2011.214
 PMID:12653714
 著者        Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menage Hdu P
 タイトル      Fish odour syndrome with features of both primary and secondary trimethylaminuria.
 雑誌        Clin Exp Dermatol 28:203-5 (2003)
 DOI:10.1046/j.1365-2230.2003.01230.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01234"">H01234</a>",トリメチルアミン尿症,"Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion of trimethylamine (TMA) in the breath, sweat, urine, and reproductive fluids. Primary TMAU is most often caused by a functional defect of flavin mono-oxygenase 3 (FMO3), and the genetic disorder is inherited in an autosomal recessive manner as a consequence of mutations in the FMO3 gene. Secondary TMAU has been described in patients with severe liver disease (which is the major site of activity of the FMO3 enzyme) and chronic renal disease (as a consequence of bacterial overgrowth in the gut), and in patients treated with large doses of betaine or possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation.",,"FMO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2328"">2328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00485"">K00485</a>]",,,,,,"ICD-11: 5C50.G
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536561"">C536561</a>
 OMIM: <a href=""https://www.omim.org/entry/602079"">602079</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21276117"">21276117</a>
 著者        Christodoulou J
 タイトル      Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.
 雑誌        J Paediatr Child Health 48:E153-5 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1754.2010.01978.x"">10.1111/j.1440-1754.2010.01978.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22126753"">22126753</a>
 著者        Shephard EA, Treacy EP, Phillips IR
 タイトル      Clinical utility gene card for: trimethylaminuria.
 雑誌        Eur J Hum Genet 20:ejhg2011214 (2012)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2011.214"">10.1038/ejhg.2011.214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12653714"">12653714</a>
 著者        Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menage Hdu P
 タイトル      Fish odour syndrome with features of both primary and secondary trimethylaminuria.
 雑誌        Clin Exp Dermatol 28:203-5 (2003)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2230.2003.01230.x"">10.1046/j.1365-2230.2003.01230.x</a>"
H01235,"血小板型出血性疾患
 下位グループ    グランツマン血小板無力症 [DS:H00226]
 上位グループ    巨大血小板性血小板減少症 [DS:H01740]",,,"Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2.",血液疾患,,"(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
 (BDPLT11) GP6 [HSA:51206] [KO:K06264]
 (BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
 (BDPLT15) ACTN1 [HSA:87] [KO:K05699]
 (BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
 (BDPLT17) GFI1B [HSA:8328] [KO:K09223]
 (BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
 (BDPLT19) PRKACG [HSA:5568] [KO:K04345]
 (BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
 (BDPLT21) FLI1 [HSA:2313] [KO:K09436]
 (BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
 (BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
 ITGA2 [HSA:3673] [KO:K06481]",,,,,,"ICD-11: 3B62
 ICD-10: D69.8
 OMIM: 609821 614200 614201 614009 615888 616913 617443 615193 187800 187900 616176 618462 619271","PMID:12578987 (BDPLT8)
 著者        Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM
 タイトル      Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
 雑誌        Proc Natl Acad Sci U S A 100:1978-83 (2003)
 DOI:10.1073/pnas.0437879100
 PMID:19552682 (BDPLT11)
 著者        Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K
 タイトル      A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.
 雑誌        J Thromb Haemost 7:1356-63 (2009)
 DOI:10.1111/j.1538-7836.2009.03520.x
 PMID:20162250 (BDPLT8_11_13)
 著者        Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A
 タイトル      Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors.
 雑誌        Hamostaseologie 30:29-38 (2010)
 PMID:23434115 (BDPLT15)
 著者        Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
 タイトル      ACTN1 mutations cause congenital macrothrombocytopenia.
 雑誌        Am J Hum Genet 92:431-8 (2013)
 DOI:10.1016/j.ajhg.2013.01.015
 PMID:21454453 (BDPLT16)
 著者        Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H
 タイトル      Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
 雑誌        Blood 117:5479-84 (2011)
 DOI:10.1182/blood-2010-12-323691
 PMID:26287868 (BDPLT17)
 タイトル      A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome.
 雑誌        N Engl J Med 373:782 (2015)
 DOI:10.1056/NEJMx150011
 PMID:24958846 (BDPLT18)
 著者        Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, Germain M, Raslova H, Peiretti F, Morange PE, Saut N, Pillois X, Nurden AT, Cambien F, Pierres A, van den Berg TK, Kuijpers TW, Alessi MC, Tregouet DA
 タイトル      Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
 雑誌        J Exp Med 211:1349-62 (2014)
 DOI:10.1084/jem.20130477
 PMID:25061177 (BDPLT19)
 著者        Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H
 タイトル      A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
 雑誌        Blood 124:2554-63 (2014)
 DOI:10.1182/blood-2014-01-551820
 PMID:26280575 (BDPLT20)
 著者        Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidze M, Guiu IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV
 タイトル      SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
 雑誌        J Clin Invest 125:3600-5 (2015)
 DOI:10.1172/JCI80347
 PMID:28255014 (BDPLT21)
 著者        Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M, Alessi MC
 タイトル      Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
 雑誌        Haematologica 102:1006-1016 (2017)
 DOI:10.3324/haematol.2016.153577
 PMID:30213874 (BDPLT22)
 著者        Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M
 タイトル      A mutation of the human EPHB2 gene leads to a major platelet functional defect.
 雑誌        Blood 132:2067-2077 (2018)
 DOI:10.1182/blood-2018-04-845644
 PMID:18065693 (BDPLT24)
 著者        Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH
 タイトル      A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
 雑誌        Blood 111:3407-14 (2008)
 DOI:10.1182/blood-2007-09-112615
 PMID:22133774 (ITGA2)
 著者        Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ
 タイトル      Platelet adhesion to decorin but not collagen I correlates with the integrin alpha2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system.
 雑誌        Haematologica 97:692-5 (2012)
 DOI:10.3324/haematol.2011.056556","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01235"">H01235</a>","血小板型出血性疾患
 下位グループ    グランツマン血小板無力症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00226"">H00226</a>]
 上位グループ    巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2.",,"(BDPLT8) P2RY12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64805"">64805</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04298"">K04298</a>]
 (BDPLT11) GP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51206"">51206</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06264"">K06264</a>]
 (BDPLT13) TBXA2R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6915"">6915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04264"">K04264</a>]
 (BDPLT15) ACTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:87"">87</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05699"">K05699</a>]
 (BDPLT16) ITGA2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3674"">3674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06476"">K06476</a>]
 (BDPLT17) GFI1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8328"">8328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09223"">K09223</a>]
 (BDPLT18) RASGRP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10235"">10235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12361"">K12361</a>]
 (BDPLT19) PRKACG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5568"">5568</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]
 (BDPLT20) SLFN14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:342618"">342618</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24445"">K24445</a>]
 (BDPLT21) FLI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2313"">2313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09436"">K09436</a>]
 (BDPLT22) EPHB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2048"">2048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05111"">K05111</a>]
 (BDPLT24) ITGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3690"">3690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06493"">K06493</a>]
 ITGA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3673"">3673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06481"">K06481</a>]",,,,,,"ICD-11: 3B62
 ICD-10: D69.8
 OMIM: <a href=""https://www.omim.org/entry/609821"">609821</a> <a href=""https://www.omim.org/entry/614200"">614200</a> <a href=""https://www.omim.org/entry/614201"">614201</a> <a href=""https://www.omim.org/entry/614009"">614009</a> <a href=""https://www.omim.org/entry/615888"">615888</a> <a href=""https://www.omim.org/entry/616913"">616913</a> <a href=""https://www.omim.org/entry/617443"">617443</a> <a href=""https://www.omim.org/entry/615193"">615193</a> <a href=""https://www.omim.org/entry/187800"">187800</a> <a href=""https://www.omim.org/entry/187900"">187900</a> <a href=""https://www.omim.org/entry/616176"">616176</a> <a href=""https://www.omim.org/entry/618462"">618462</a> <a href=""https://www.omim.org/entry/619271"">619271</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12578987"">12578987</a> (BDPLT8)
 著者        Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM
 タイトル      Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
 雑誌        Proc Natl Acad Sci U S A 100:1978-83 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.0437879100"">10.1073/pnas.0437879100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19552682"">19552682</a> (BDPLT11)
 著者        Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K
 タイトル      A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.
 雑誌        J Thromb Haemost 7:1356-63 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2009.03520.x"">10.1111/j.1538-7836.2009.03520.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20162250"">20162250</a> (BDPLT8_11_13)
 著者        Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A
 タイトル      Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors.
 雑誌        Hamostaseologie 30:29-38 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23434115"">23434115</a> (BDPLT15)
 著者        Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
 タイトル      ACTN1 mutations cause congenital macrothrombocytopenia.
 雑誌        Am J Hum Genet 92:431-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.015"">10.1016/j.ajhg.2013.01.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21454453"">21454453</a> (BDPLT16)
 著者        Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H
 タイトル      Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
 雑誌        Blood 117:5479-84 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-12-323691"">10.1182/blood-2010-12-323691</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26287868"">26287868</a> (BDPLT17)
 タイトル      A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome.
 雑誌        N Engl J Med 373:782 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMx150011"">10.1056/NEJMx150011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24958846"">24958846</a> (BDPLT18)
 著者        Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, Germain M, Raslova H, Peiretti F, Morange PE, Saut N, Pillois X, Nurden AT, Cambien F, Pierres A, van den Berg TK, Kuijpers TW, Alessi MC, Tregouet DA
 タイトル      Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
 雑誌        J Exp Med 211:1349-62 (2014)
 DOI:<a href=""https://doi.org/10.1084/jem.20130477"">10.1084/jem.20130477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25061177"">25061177</a> (BDPLT19)
 著者        Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H
 タイトル      A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
 雑誌        Blood 124:2554-63 (2014)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-01-551820"">10.1182/blood-2014-01-551820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26280575"">26280575</a> (BDPLT20)
 著者        Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidze M, Guiu IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV
 タイトル      SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
 雑誌        J Clin Invest 125:3600-5 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI80347"">10.1172/JCI80347</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28255014"">28255014</a> (BDPLT21)
 著者        Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M, Alessi MC
 タイトル      Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
 雑誌        Haematologica 102:1006-1016 (2017)
 DOI:<a href=""https://doi.org/10.3324/haematol.2016.153577"">10.3324/haematol.2016.153577</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30213874"">30213874</a> (BDPLT22)
 著者        Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M
 タイトル      A mutation of the human EPHB2 gene leads to a major platelet functional defect.
 雑誌        Blood 132:2067-2077 (2018)
 DOI:<a href=""https://doi.org/10.1182/blood-2018-04-845644"">10.1182/blood-2018-04-845644</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18065693"">18065693</a> (BDPLT24)
 著者        Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH
 タイトル      A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
 雑誌        Blood 111:3407-14 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-09-112615"">10.1182/blood-2007-09-112615</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22133774"">22133774</a> (ITGA2)
 著者        Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ
 タイトル      Platelet adhesion to decorin but not collagen I correlates with the integrin alpha2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system.
 雑誌        Haematologica 97:692-5 (2012)
 DOI:<a href=""https://doi.org/10.3324/haematol.2011.056556"">10.3324/haematol.2011.056556</a>"
H01236,家族性関節軟骨石灰化症,,,"Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.",筋骨格疾患,,ANKH [HSA:56172] [KO:K22734],,,,,,"ICD-11: FA26.2
 ICD-10: M11.1
 MeSH: C563162
 OMIM: 118600","PMID:12297987
 著者        Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM
 タイトル      Mutations in ANKH cause chondrocalcinosis.
 雑誌        Am J Hum Genet 71:933-40 (2002)
 DOI:10.1086/343054","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01236"">H01236</a>",家族性関節軟骨石灰化症,"Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.",,"ANKH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56172"">56172</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22734"">K22734</a>]",,,,,,"ICD-11: FA26.2
 ICD-10: M11.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563162"">C563162</a>
 OMIM: <a href=""https://www.omim.org/entry/118600"">118600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12297987"">12297987</a>
 著者        Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM
 タイトル      Mutations in ANKH cause chondrocalcinosis.
 雑誌        Am J Hum Genet 71:933-40 (2002)
 DOI:<a href=""https://doi.org/10.1086/343054"">10.1086/343054</a>"
H01237,亜硫酸オキシダーゼ欠損症,,,"Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental delay, and dislocated lens. Isolated sulfite oxidase deficiency results from defects in the enzyme sulfite oxidase, which is responsible for the oxidation of sulfite to sulfate. Several mutations have been identified from patients suffering from isolated sulfite oxidase deficiency. The more common molybdenum cofactor deficiency [DS:H00192] leads to combined defects in xanthine dehydrogenase and sulfite oxidase, as sulfite oxidase is 1 of 3 enzymes in humans that requires molybdenum as a cofactor, the other 2 being xanthine oxidase and aldehyde oxidase. The seizures in isolated sulfite oxidase deficiency may even begin prenatally, and are much more severe compared with those in molybdenum cofactor deficiency.",先天性代謝異常症,,SUOX [HSA:6821] [KO:K00387],,,,,Molybdenum cofactor deficiency is described in [DS:H00192].,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: C538141
 OMIM: 272300","PMID:16140720
 著者        Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE
 タイトル      Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
 雑誌        Pediatrics 116:757-66 (2005)
 DOI:10.1542/peds.2004-1897
 PMID:16234925
 著者        Karakas E, Kisker C
 タイトル      Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
 雑誌        Dalton Trans 3459-63 (2005)
 DOI:10.1039/b505789m
 PMID:21803516
 著者        Lee WT
 タイトル      Disorders of amino acid metabolism associated with epilepsy.
 雑誌        Brain Dev 33:745-52 (2011)
 DOI:10.1016/j.braindev.2011.06.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01237"">H01237</a>",亜硫酸オキシダーゼ欠損症,"Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental delay, and dislocated lens. Isolated sulfite oxidase deficiency results from defects in the enzyme sulfite oxidase, which is responsible for the oxidation of sulfite to sulfate. Several mutations have been identified from patients suffering from isolated sulfite oxidase deficiency. The more common molybdenum cofactor deficiency [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00192"">H00192</a>] leads to combined defects in xanthine dehydrogenase and sulfite oxidase, as sulfite oxidase is 1 of 3 enzymes in humans that requires molybdenum as a cofactor, the other 2 being xanthine oxidase and aldehyde oxidase. The seizures in isolated sulfite oxidase deficiency may even begin prenatally, and are much more severe compared with those in molybdenum cofactor deficiency.",,"SUOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6821"">6821</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00387"">K00387</a>]",,,,,"Molybdenum cofactor deficiency is described in [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00192]."">H00192].</a>","ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538141"">C538141</a>
 OMIM: <a href=""https://www.omim.org/entry/272300"">272300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16140720"">16140720</a>
 著者        Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE
 タイトル      Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
 雑誌        Pediatrics 116:757-66 (2005)
 DOI:<a href=""https://doi.org/10.1542/peds.2004-1897"">10.1542/peds.2004-1897</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16234925"">16234925</a>
 著者        Karakas E, Kisker C
 タイトル      Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
 雑誌        Dalton Trans 3459-63 (2005)
 DOI:<a href=""https://doi.org/10.1039/b505789m"">10.1039/b505789m</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21803516"">21803516</a>
 著者        Lee WT
 タイトル      Disorders of amino acid metabolism associated with epilepsy.
 雑誌        Brain Dev 33:745-52 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2011.06.014"">10.1016/j.braindev.2011.06.014</a>"
H01238,Phelan-McDermid 症候群,,,"Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.",染色体異常,,SHANK3 [HSA:85358] [KO:K15009],,,,,,"ICD-11: LD44.NY
 ICD-10: Q93.5
 MeSH: C536801
 OMIM: 606232","PMID:11431708
 著者        Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O
 タイトル      Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
 雑誌        Am J Hum Genet 69:261-8 (2001)
 DOI:10.1086/321293","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01238"">H01238</a>",Phelan-McDermid 症候群,"Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.",,"SHANK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85358"">85358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15009"">K15009</a>]",,,,,,"ICD-11: LD44.NY
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536801"">C536801</a>
 OMIM: <a href=""https://www.omim.org/entry/606232"">606232</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11431708"">11431708</a>
 著者        Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O
 タイトル      Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
 雑誌        Am J Hum Genet 69:261-8 (2001)
 DOI:<a href=""https://doi.org/10.1086/321293"">10.1086/321293</a>"
H01239,"プロサポシン欠損症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality of the prosaposin protein. Mammalian prosaposin encodes in tandem four small acidic activator proteins (saposins) with specificities for glycosphingolipids hydrolases.,先天性代謝異常症; リソソーム蓄積症,,PSAP [HSA:5660] [KO:K12382],,,,,Defects in PSAP saposin-B region are the cause of metachromatic leukodystrophy [DS:H00127]. Defects in PSAP saposin-C region are the cause of atypical Gaucher disease [DS:H00126]. Defects in PSAP saposin-A region are the cause of atypical Krabbe disease [DS:H00135].,"ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: C567125
 OMIM: 611721","PMID:1371116
 著者        Schnabel D, Schroder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al.
 タイトル      Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
 雑誌        J Biol Chem 267:3312-5 (1992)
 PMID:11309366
 著者        Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M
 タイトル      A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
 雑誌        Hum Mol Genet 10:927-40 (2001)
 DOI:10.1093/hmg/10.9.927
 PMID:17353235
 著者        Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA
 タイトル      Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
 雑誌        Hum Mol Genet 16:957-71 (2007)
 DOI:10.1093/hmg/ddm040","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01239"">H01239</a>","プロサポシン欠損症
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality of the prosaposin protein. Mammalian prosaposin encodes in tandem four small acidic activator proteins (saposins) with specificities for glycosphingolipids hydrolases.,,"PSAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5660"">5660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12382"">K12382</a>]",,,,,"Defects in PSAP saposin-B region are the cause of metachromatic leukodystrophy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00127]."">H00127].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Defects"">Defects</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PSAP"">PSAP</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:saposin-C"">saposin-C</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:region"">region</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:atypical"">atypical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Gaucher"">Gaucher</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00126]."">H00126].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Defects"">Defects</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PSAP"">PSAP</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:saposin-A"">saposin-A</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:region"">region</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:atypical"">atypical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Krabbe"">Krabbe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00135]."">H00135].</a>","ICD-11: 5C56.0Y
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567125"">C567125</a>
 OMIM: <a href=""https://www.omim.org/entry/611721"">611721</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1371116"">1371116</a>
 著者        Schnabel D, Schroder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al.
 タイトル      Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
 雑誌        J Biol Chem 267:3312-5 (1992)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11309366"">11309366</a>
 著者        Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M
 タイトル      A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
 雑誌        Hum Mol Genet 10:927-40 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.9.927"">10.1093/hmg/10.9.927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17353235"">17353235</a>
 著者        Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA
 タイトル      Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
 雑誌        Hum Mol Genet 16:957-71 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm040"">10.1093/hmg/ddm040</a>"
H01240,自己免疫性血小板減少性紫斑病,,,"Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing phagocytic cells in the reticuloendothelial system plays an important role. ITP is diagnosed clinically, based upon onset of thrombocytopenia in the absence of other hematologic abnormalities, or other causes of low platelets, and with a characteristic blood smear. While around 50% of typical childhood acute ITP is preceded by a viral or bacterial infection and commonly resolves within weeks to months without treatment, fewer adult cases are acute and self-resolving. Typical adult primary ITP is very similar clinically to chronic pediatric ITP. Intravenous immunoglobulin (IVIg) treatment and splenectomy (removal of the platelet-destructing organ) are effective treatment options. It has been reported that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory Fc[gamma]R on immune cells.",免疫系疾患,,FCGR2C [HSA:9103] [KO:K16824],,"Quinine [CPD:C06526]
 Trimethoprim-sulfamethoxazole
 病原体         Hepatitis C virus
 Human immunodeficiency virus
 Helicobacter pylori",,"ロミプロスチム [DR:D08990]
 エルトロンボパグ オラミン [DR:D03978]
 リツキシマブ [DR:D02994]
 pH4処理酸性人免疫グロブリン [DR:D08779]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥スルホ化人免疫グロブリン [DR:D08786]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]",,"ICD-11: 3B64.10
 ICD-10: D69.3
 MeSH: D016553
 OMIM: 188030","PMID:21632906 (description, environmental factor, drug)
 著者        McCrae K
 タイトル      Immune thrombocytopenia: no longer 'idiopathic'.
 雑誌        Cleve Clin J Med 78:358-73 (2011)
 DOI:10.3949/ccjm.78gr.10005
 PMID:17934360
 著者        Cines DB, McMillan R
 タイトル      Pathogenesis of chronic immune thrombocytopenic purpura.
 雑誌        Curr Opin Hematol 14:511-4 (2007)
 DOI:10.1097/MOH.0b013e3282ba5552
 PMID:20309691
 著者        Bergmann AK, Grace RF, Neufeld EJ
 タイトル      Genetic studies in pediatric ITP: outlook, feasibility, and requirements.
 雑誌        Ann Hematol 89:S95-103 (2010)
 DOI:10.1007/s00277-009-0865-9
 PMID:17827395
 著者        Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW
 タイトル      Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.
 雑誌        Blood 111:1029-38 (2008)
 DOI:10.1182/blood-2007-03-079913","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01240"">H01240</a>",自己免疫性血小板減少性紫斑病,"Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing phagocytic cells in the reticuloendothelial system plays an important role. ITP is diagnosed clinically, based upon onset of thrombocytopenia in the absence of other hematologic abnormalities, or other causes of low platelets, and with a characteristic blood smear. While around 50% of typical childhood acute ITP is preceded by a viral or bacterial infection and commonly resolves within weeks to months without treatment, fewer adult cases are acute and self-resolving. Typical adult primary ITP is very similar clinically to chronic pediatric ITP. Intravenous immunoglobulin (IVIg) treatment and splenectomy (removal of the platelet-destructing organ) are effective treatment options. It has been reported that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory Fc[gamma]R on immune cells.",,"FCGR2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9103"">9103</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16824"">K16824</a>]",,"Quinine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06526"">C06526</a>]
 Trimethoprim-sulfamethoxazole
 病原体         Hepatitis C virus
 Human immunodeficiency virus
 Helicobacter pylori",,"ロミプロスチム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08990"">D08990</a>]
 エルトロンボパグ オラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03978"">D03978</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]
 pH4処理酸性人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08779"">D08779</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]",,"ICD-11: 3B64.10
 ICD-10: D69.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016553"">D016553</a>
 OMIM: <a href=""https://www.omim.org/entry/188030"">188030</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21632906"">21632906</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor,"">factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        McCrae K
 タイトル      Immune thrombocytopenia: no longer 'idiopathic'.
 雑誌        Cleve Clin J Med 78:358-73 (2011)
 DOI:<a href=""https://doi.org/10.3949/ccjm.78gr.10005"">10.3949/ccjm.78gr.10005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17934360"">17934360</a>
 著者        Cines DB, McMillan R
 タイトル      Pathogenesis of chronic immune thrombocytopenic purpura.
 雑誌        Curr Opin Hematol 14:511-4 (2007)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e3282ba5552"">10.1097/MOH.0b013e3282ba5552</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20309691"">20309691</a>
 著者        Bergmann AK, Grace RF, Neufeld EJ
 タイトル      Genetic studies in pediatric ITP: outlook, feasibility, and requirements.
 雑誌        Ann Hematol 89:S95-103 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00277-009-0865-9"">10.1007/s00277-009-0865-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17827395"">17827395</a>
 著者        Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW
 タイトル      Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.
 雑誌        Blood 111:1029-38 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-03-079913"">10.1182/blood-2007-03-079913</a>"
H01241,先天性横隔膜ヘルニア,,,"Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia.",先天奇形,,ZFPM2 [HSA:23414] [KO:K17442],,,,,,"ICD-11: LB00.0
 ICD-10: Q79.0
 MeSH: C538080
 OMIM: 610187","PMID:17436238
 著者        Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA
 タイトル      Genetic factors in congenital diaphragmatic hernia.
 雑誌        Am J Hum Genet 80:825-45 (2007)
 DOI:10.1086/513442
 PMID:16103912
 著者        Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR
 タイトル      Fog2 is required for normal diaphragm and lung development in mice and humans.
 雑誌        PLoS Genet 1:58-65 (2005)
 DOI:10.1371/journal.pgen.0010010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01241"">H01241</a>",先天性横隔膜ヘルニア,"Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia.",,"ZFPM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23414"">23414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17442"">K17442</a>]",,,,,,"ICD-11: LB00.0
 ICD-10: Q79.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538080"">C538080</a>
 OMIM: <a href=""https://www.omim.org/entry/610187"">610187</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17436238"">17436238</a>
 著者        Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA
 タイトル      Genetic factors in congenital diaphragmatic hernia.
 雑誌        Am J Hum Genet 80:825-45 (2007)
 DOI:<a href=""https://doi.org/10.1086/513442"">10.1086/513442</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16103912"">16103912</a>
 著者        Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR
 タイトル      Fog2 is required for normal diaphragm and lung development in mice and humans.
 雑誌        PLoS Genet 1:58-65 (2005)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.0010010"">10.1371/journal.pgen.0010010</a>"
H01242,サッカロピン尿症,,,"Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde synthase (AASS), which catalyzes the first two steps in the lysine-degradation pathway. Patients with this disorder have both hyperlysinemia and saccharopinuria, although the saccharopinuria is much more severe. It seems likely that this disorder results from specific mutations in the portion of AASS encoding SDH, which could explain the high levels of saccharopine, compared with that in patients with hyperlysinemia [DS:H00188].",先天性代謝異常症,,AASS [HSA:10157] [KO:K14157],,,,,,"ICD-11: 5C50.4
 ICD-10: E72.3
 MeSH: C537218
 OMIM: 268700","PMID:10775527
 著者        Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
 タイトル      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
 雑誌        Am J Hum Genet 66:1736-43 (2000)
 DOI:10.1086/302919
 PMID:463877
 著者        Dancis J, Hutzler J, Cox RP
 タイトル      Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
 雑誌        Am J Hum Genet 31:290-9 (1979)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01242"">H01242</a>",サッカロピン尿症,"Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde synthase (AASS), which catalyzes the first two steps in the lysine-degradation pathway. Patients with this disorder have both hyperlysinemia and saccharopinuria, although the saccharopinuria is much more severe. It seems likely that this disorder results from specific mutations in the portion of AASS encoding SDH, which could explain the high levels of saccharopine, compared with that in patients with hyperlysinemia [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00188]."">H00188].</a>",,"AASS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10157"">10157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14157"">K14157</a>]",,,,,,"ICD-11: 5C50.4
 ICD-10: E72.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537218"">C537218</a>
 OMIM: <a href=""https://www.omim.org/entry/268700"">268700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10775527"">10775527</a>
 著者        Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
 タイトル      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
 雑誌        Am J Hum Genet 66:1736-43 (2000)
 DOI:<a href=""https://doi.org/10.1086/302919"">10.1086/302919</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/463877"">463877</a>
 著者        Dancis J, Hutzler J, Cox RP
 タイトル      Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
 雑誌        Am J Hum Genet 31:290-9 (1979)"
H01243,"Huntington disease-like syndrome
 上位グループ    中核群神経有棘赤血球症 [DS:H00832]",,,"Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4).",神経変性疾患,,"PRNP [HSA:5621] [KO:K05634]
 HDL2 [HSA:57338] [KO:K19530]
 HDL4 [HSA:6908] [KO:K03120]",,,,,,"ICD-11: 8A01.11
 MeSH: C580174
 OMIM: 603218 606438 607136","PMID:17805246
 著者        Schneider SA, Walker RH, Bhatia KP
 タイトル      The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test.
 雑誌        Nat Clin Pract Neurol 3:517-25 (2007)
 DOI:10.1038/ncpneuro0606
 PMID:18181206
 著者        Wild EJ, Mudanohwo EE, Sweeney MG, Schneider SA, Beck J, Bhatia KP, Rossor MN, Davis MB, Tabrizi SJ
 タイトル      Huntington's disease phenocopies are clinically and genetically heterogeneous.
 雑誌        Mov Disord 23:716-20 (2008)
 DOI:10.1002/mds.21915","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01243"">H01243</a>","Huntington disease-like syndrome
 上位グループ    中核群神経有棘赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>]","Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4).",,"PRNP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5621"">5621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05634"">K05634</a>]
 HDL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57338"">57338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19530"">K19530</a>]
 HDL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6908"">6908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03120"">K03120</a>]",,,,,,"ICD-11: 8A01.11
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580174"">C580174</a>
 OMIM: <a href=""https://www.omim.org/entry/603218"">603218</a> <a href=""https://www.omim.org/entry/606438"">606438</a> <a href=""https://www.omim.org/entry/607136"">607136</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17805246"">17805246</a>
 著者        Schneider SA, Walker RH, Bhatia KP
 タイトル      The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test.
 雑誌        Nat Clin Pract Neurol 3:517-25 (2007)
 DOI:<a href=""https://doi.org/10.1038/ncpneuro0606"">10.1038/ncpneuro0606</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18181206"">18181206</a>
 著者        Wild EJ, Mudanohwo EE, Sweeney MG, Schneider SA, Beck J, Bhatia KP, Rossor MN, Davis MB, Tabrizi SJ
 タイトル      Huntington's disease phenocopies are clinically and genetically heterogeneous.
 雑誌        Mov Disord 23:716-20 (2008)
 DOI:<a href=""https://doi.org/10.1002/mds.21915"">10.1002/mds.21915</a>"
H01244,"T+B+ 重症複合免疫不全症
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype consists of severe, disseminated cytomegalovirus (CMV) infection and autoimmune blood cell manifestations.",原発性免疫不全症候群,,RAG-1 [HSA:5896] [KO:K10628],,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: C563311
 OMIM: 609889","PMID:16276422
 著者        de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F
 タイトル      A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
 雑誌        J Clin Invest 115:3291-9 (2005)
 DOI:10.1172/JCI25178
 PMID:19243569
 著者        Pasic S, Djuricic S, Ristic G, Slavkovic B
 タイトル      Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.
 雑誌        Acta Paediatr 98:1062-4 (2009)
 DOI:10.1111/j.1651-2227.2009.01250.x
 PMID:16211094
 著者        Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P
 タイトル      A variant of SCID with specific immune responses and predominance of gamma delta T cells.
 雑誌        J Clin Invest 115:3140-8 (2005)
 DOI:10.1172/JCI25221","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01244"">H01244</a>","T+B+ 重症複合免疫不全症
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype consists of severe, disseminated cytomegalovirus (CMV) infection and autoimmune blood cell manifestations.",,"RAG-1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5896"">5896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10628"">K10628</a>]",,,,,,"ICD-11: 4A01.10
 ICD-10: D81
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563311"">C563311</a>
 OMIM: <a href=""https://www.omim.org/entry/609889"">609889</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16276422"">16276422</a>
 著者        de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F
 タイトル      A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
 雑誌        J Clin Invest 115:3291-9 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI25178"">10.1172/JCI25178</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19243569"">19243569</a>
 著者        Pasic S, Djuricic S, Ristic G, Slavkovic B
 タイトル      Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.
 雑誌        Acta Paediatr 98:1062-4 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1651-2227.2009.01250.x"">10.1111/j.1651-2227.2009.01250.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16211094"">16211094</a>
 著者        Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P
 タイトル      A variant of SCID with specific immune responses and predominance of gamma delta T cells.
 雑誌        J Clin Invest 115:3140-8 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI25221"">10.1172/JCI25221</a>"
H01245,外胚葉異形成症を伴わない免疫不全症,,,"A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.",原発性免疫不全症候群,,IKBKG [HSA:8517] [KO:K07210],,,,,,"ICD-11: 4A0Y
 MeSH: C536289
 OMIM: 300584","PMID:16397577
 著者        Courtois G, Smahi A
 タイトル      NF-kappaB-related genetic diseases.
 雑誌        Cell Death Differ 13:843-51 (2006)
 DOI:10.1038/sj.cdd.4401841
 PMID:15577852
 著者        Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Doffinger R, Casanova JL, Wahn V
 タイトル      Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
 雑誌        J Allergy Clin Immunol 114:1456-62 (2004)
 DOI:10.1016/j.jaci.2004.08.047
 PMID:15356572
 著者        Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS
 タイトル      Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
 雑誌        J Allergy Clin Immunol 114:650-6 (2004)
 DOI:10.1016/j.jaci.2004.06.052","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01245"">H01245</a>",外胚葉異形成症を伴わない免疫不全症,"A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.",,"IKBKG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8517"">8517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07210"">K07210</a>]",,,,,,"ICD-11: 4A0Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536289"">C536289</a>
 OMIM: <a href=""https://www.omim.org/entry/300584"">300584</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16397577"">16397577</a>
 著者        Courtois G, Smahi A
 タイトル      NF-kappaB-related genetic diseases.
 雑誌        Cell Death Differ 13:843-51 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.cdd.4401841"">10.1038/sj.cdd.4401841</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15577852"">15577852</a>
 著者        Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Doffinger R, Casanova JL, Wahn V
 タイトル      Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
 雑誌        J Allergy Clin Immunol 114:1456-62 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2004.08.047"">10.1016/j.jaci.2004.08.047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15356572"">15356572</a>
 著者        Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS
 タイトル      Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
 雑誌        J Allergy Clin Immunol 114:650-6 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2004.06.052"">10.1016/j.jaci.2004.06.052</a>"
H01246,非症候群性先天性ばち指,,,Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.,先天奇形,,HPGD [HSA:3248] [KO:K00069],,,,,,"ICD-11: LB80.1
 ICD-10: Q68.1
 MeSH: D010004
 OMIM: 119900","PMID:18805827
 著者        Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W
 タイトル      Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
 雑誌        J Med Genet 46:14-20 (2009)
 DOI:10.1136/jmg.2008.061234","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01246"">H01246</a>",非症候群性先天性ばち指,Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.,,"HPGD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3248"">3248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00069"">K00069</a>]",,,,,,"ICD-11: LB80.1
 ICD-10: Q68.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010004"">D010004</a>
 OMIM: <a href=""https://www.omim.org/entry/119900"">119900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18805827"">18805827</a>
 著者        Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W
 タイトル      Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
 雑誌        J Med Genet 46:14-20 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.061234"">10.1136/jmg.2008.061234</a>"
H01247,"ピリドキシン依存性てんかん
 下位グループ    早期発症型ビタミン B6 依存性てんかん [DS:H02250]",,,"Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF.",神経系疾患,,ALDH7A1 [HSA:501] [KO:K14085],,,,,,"ICD-11: 8A61.0Y
 ICD-10: G40.8
 MeSH: C536254
 OMIM: 266100","PMID:16491085
 著者        Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT
 タイトル      Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
 雑誌        Nat Med 12:307-9 (2006)
 DOI:10.1038/nm1366
 PMID:21704546
 著者        Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
 タイトル      Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
 雑誌        Mol Genet Metab 104:48-60 (2011)
 DOI:10.1016/j.ymgme.2011.05.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01247"">H01247</a>","ピリドキシン依存性てんかん
 下位グループ    早期発症型ビタミン B6 依存性てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02250"">H02250</a>]","Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF.",,"ALDH7A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:501"">501</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14085"">K14085</a>]",,,,,,"ICD-11: 8A61.0Y
 ICD-10: G40.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536254"">C536254</a>
 OMIM: <a href=""https://www.omim.org/entry/266100"">266100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16491085"">16491085</a>
 著者        Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT
 タイトル      Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
 雑誌        Nat Med 12:307-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/nm1366"">10.1038/nm1366</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21704546"">21704546</a>
 著者        Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
 タイトル      Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
 雑誌        Mol Genet Metab 104:48-60 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.05.014"">10.1016/j.ymgme.2011.05.014</a>"
H01248,Erythrocyte lactate transporter defect,,,"Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter.",,,SLC16A1 [HSA:6566] [KO:K08179],,,,,,"ICD-11: 5C53.Y
 MeSH: C565449
 OMIM: 245340","PMID:10590411
 著者        Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW
 タイトル      Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
 雑誌        Muscle Nerve 23:90-7 (2000)
 DOI:10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO;2-M
 PMID:12739169
 著者        Halestrap AP, Meredith D
 タイトル      The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.
 雑誌        Pflugers Arch 447:619-28 (2004)
 DOI:10.1007/s00424-003-1067-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01248"">H01248</a>",Erythrocyte lactate transporter defect,"Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter.",,"SLC16A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6566"">6566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08179"">K08179</a>]",,,,,,"ICD-11: 5C53.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565449"">C565449</a>
 OMIM: <a href=""https://www.omim.org/entry/245340"">245340</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10590411"">10590411</a>
 著者        Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW
 タイトル      Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
 雑誌        Muscle Nerve 23:90-7 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1097-4598(200001)23:"">10.1002/(SICI)1097-4598(200001)23:</a><a href=""https://doi.org/1<90:"">1<90:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-MUS12>3.0.CO;2-M"">AID-MUS12>3.0.CO;2-M</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12739169"">12739169</a>
 著者        Halestrap AP, Meredith D
 タイトル      The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.
 雑誌        Pflugers Arch 447:619-28 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00424-003-1067-2"">10.1007/s00424-003-1067-2</a>"
H01249,エチルマロン酸脳症,,,"Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life.",,,ETHE1 [HSA:23474] [KO:K17725],,,,,,"MeSH: C535737
 OMIM: 602473","PMID:14732903
 著者        Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
 タイトル      Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
 雑誌        Am J Hum Genet 74:239-52 (2004)
 DOI:10.1086/381653
 PMID:16828325
 著者        Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V
 タイトル      A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
 雑誌        Mol Genet Metab 89:395-7 (2006)
 DOI:10.1016/j.ymgme.2006.05.010
 PMID:11916321
 著者        Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S
 タイトル      Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
 雑誌        J Inherit Metab Dis 24:870-3 (2001)
 DOI:10.1023/A:1013948409790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01249"">H01249</a>",エチルマロン酸脳症,"Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life.",,"ETHE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23474"">23474</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17725"">K17725</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535737"">C535737</a>
 OMIM: <a href=""https://www.omim.org/entry/602473"">602473</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14732903"">14732903</a>
 著者        Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
 タイトル      Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
 雑誌        Am J Hum Genet 74:239-52 (2004)
 DOI:<a href=""https://doi.org/10.1086/381653"">10.1086/381653</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16828325"">16828325</a>
 著者        Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V
 タイトル      A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
 雑誌        Mol Genet Metab 89:395-7 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.05.010"">10.1016/j.ymgme.2006.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11916321"">11916321</a>
 著者        Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S
 タイトル      Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
 雑誌        J Inherit Metab Dis 24:870-3 (2001)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1013948409790"">1013948409790</a>"
H01250,遺伝性歯肉増殖症,,,"Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF.",消化器系疾患,,"(GINGF1) SOS1 [HSA:6654] [KO:K03099]
 (GINGF5) REST [HSA:5978] [KO:K09222]",,,,,,"ICD-11: DA0D.1
 ICD-10: K06.1
 MeSH: D005351
 OMIM: 135300 617626","PMID:11868160 (SOS1)
 著者        Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D
 タイトル      A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
 雑誌        Am J Hum Genet 70:943-54 (2002)
 DOI:10.1086/339689
 PMID:28686854 (REST)
 著者        Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR
 タイトル      REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
 雑誌        Am J Hum Genet 101:149-156 (2017)
 DOI:10.1016/j.ajhg.2017.06.006
 PMID:19633868
 著者        Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR
 タイトル      Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
 雑誌        Eur J Pediatr 169:327-32 (2010)
 DOI:10.1007/s00431-009-1034-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01250"">H01250</a>",遺伝性歯肉増殖症,"Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF.",,"(GINGF1) SOS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6654"">6654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03099"">K03099</a>]
 (GINGF5) REST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5978"">5978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09222"">K09222</a>]",,,,,,"ICD-11: DA0D.1
 ICD-10: K06.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005351"">D005351</a>
 OMIM: <a href=""https://www.omim.org/entry/135300"">135300</a> <a href=""https://www.omim.org/entry/617626"">617626</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11868160"">11868160</a> (SOS1)
 著者        Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D
 タイトル      A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
 雑誌        Am J Hum Genet 70:943-54 (2002)
 DOI:<a href=""https://doi.org/10.1086/339689"">10.1086/339689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28686854"">28686854</a> (REST)
 著者        Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR
 タイトル      REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
 雑誌        Am J Hum Genet 101:149-156 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.06.006"">10.1016/j.ajhg.2017.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19633868"">19633868</a>
 著者        Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR
 タイトル      Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
 雑誌        Eur J Pediatr 169:327-32 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00431-009-1034-9"">10.1007/s00431-009-1034-9</a>"
H01251,限局性皮質異形成 II 型,,,Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder.,先天奇形,,TSC1 [HSA:7248] [KO:K07206],,,,,,"ICD-11: LA05.51
 ICD-10: Q04.8
 MeSH: C537067
 OMIM: 607341","PMID:12112044
 著者        Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I
 タイトル      Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
 雑誌        Ann Neurol 52:29-37 (2002)
 DOI:10.1002/ana.10251
 PMID:12135964
 著者        Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R
 タイトル      Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.
 雑誌        Brain 125:1719-32 (2002)
 DOI:10.1093/brain/awf175
 PMID:15642904
 著者        Lawson JA, Birchansky S, Pacheco E, Jayakar P, Resnick TJ, Dean P, Duchowny MS
 タイトル      Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.
 雑誌        Neurology 64:55-61 (2005)
 DOI:10.1212/01.WNL.0000148647.55705.A3
 PMID:19918125
 著者        Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
 タイトル      Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
 雑誌        J Neuropathol Exp Neurol 68:1136-46 (2009)
 DOI:10.1097/NEN.0b013e3181b9a699","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01251"">H01251</a>",限局性皮質異形成 II 型,Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder.,,"TSC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7248"">7248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07206"">K07206</a>]",,,,,,"ICD-11: LA05.51
 ICD-10: Q04.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537067"">C537067</a>
 OMIM: <a href=""https://www.omim.org/entry/607341"">607341</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12112044"">12112044</a>
 著者        Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I
 タイトル      Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
 雑誌        Ann Neurol 52:29-37 (2002)
 DOI:<a href=""https://doi.org/10.1002/ana.10251"">10.1002/ana.10251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12135964"">12135964</a>
 著者        Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R
 タイトル      Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.
 雑誌        Brain 125:1719-32 (2002)
 DOI:<a href=""https://doi.org/10.1093/brain/awf175"">10.1093/brain/awf175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15642904"">15642904</a>
 著者        Lawson JA, Birchansky S, Pacheco E, Jayakar P, Resnick TJ, Dean P, Duchowny MS
 タイトル      Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.
 雑誌        Neurology 64:55-61 (2005)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000148647.55705.A3"">10.1212/01.WNL.0000148647.55705.A3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19918125"">19918125</a>
 著者        Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
 タイトル      Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
 雑誌        J Neuropathol Exp Neurol 68:1136-46 (2009)
 DOI:<a href=""https://doi.org/10.1097/NEN.0b013e3181b9a699"">10.1097/NEN.0b013e3181b9a699</a>"
H01252,先天性葉酸吸収不全,,,"Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections. When diagnosed early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter (PCFT/SLC46A1) gene from patients with HFM.",,,SLC46A1 [HSA:113235] [KO:K14613],,,,,,"ICD-11: 5C63.1
 ICD-10: D52.8
 OMIM: 229050","PMID:17129779
 著者        Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID
 タイトル      Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
 雑誌        Cell 127:917-28 (2006)
 DOI:10.1016/j.cell.2006.09.041
 PMID:18559978
 著者        Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG
 タイトル      A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
 雑誌        Blood 112:2055-61 (2008)
 DOI:10.1182/blood-2008-04-150276
 PMID:19508863
 著者        Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG
 タイトル      Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.
 雑誌        Biochem Biophys Res Commun 386:426-31 (2009)
 DOI:10.1016/j.bbrc.2009.06.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01252"">H01252</a>",先天性葉酸吸収不全,"Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections. When diagnosed early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter (PCFT/SLC46A1) gene from patients with HFM.",,"SLC46A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113235"">113235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14613"">K14613</a>]",,,,,,"ICD-11: 5C63.1
 ICD-10: D52.8
 OMIM: <a href=""https://www.omim.org/entry/229050"">229050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17129779"">17129779</a>
 著者        Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID
 タイトル      Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
 雑誌        Cell 127:917-28 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2006.09.041"">10.1016/j.cell.2006.09.041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18559978"">18559978</a>
 著者        Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG
 タイトル      A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
 雑誌        Blood 112:2055-61 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-04-150276"">10.1182/blood-2008-04-150276</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19508863"">19508863</a>
 著者        Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG
 タイトル      Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.
 雑誌        Biochem Biophys Res Commun 386:426-31 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2009.06.007"">10.1016/j.bbrc.2009.06.007</a>"
H01253,"卵胞刺激ホルモン単独欠損症
 上位グループ    低ゴナドトロピン性性腺機能低下症 [DS:H00255]
 下垂体前葉機能低下症 [DS:H01700]
 下垂体前葉機能低下症 [DS:H01700]",,,"Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible.",,nt06323  KISS1-GnRH-LH/FSH-E2 signaling,FSHB [HSA:2488] [KO:K05250],,,,,,"ICD-11: 5A61.0
 ICD-10: E23.6
 MeSH: C537070
 OMIM: 229070","PMID:10773385
 著者        Layman LC, McDonough PG
 タイトル      Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
 雑誌        Mol Cell Endocrinol 161:9-17 (2000)
 DOI:10.1016/S0303-7207(99)00217-8
 PMID:9280841
 著者        Matthews C, Chatterjee VK
 タイトル      Isolated deficiency of follicle-stimulating hormone re-revisited.
 雑誌        N Engl J Med 337:642 (1997)
 DOI:10.1056/NEJM199708283370918
 PMID:17854805
 著者        Calongos G, Hasegawa A, Komori S, Koyama K
 タイトル      Comparison of urinary and recombinant follicle-stimulating hormone in in vitro growth, maturation, and fertilization of mouse preantral follicles.
 雑誌        Fertil Steril 89:1482-9 (2008)
 DOI:10.1016/j.fertnstert.2007.04.058","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01253"">H01253</a>","卵胞刺激ホルモン単独欠損症
 上位グループ    低ゴナドトロピン性性腺機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible.","<a href=""https://www.kegg.jp/network/nt06323"">nt06323</a>  KISS1-GnRH-LH/FSH-E2 signaling","FSHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2488"">2488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05250"">K05250</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537070"">C537070</a>
 OMIM: <a href=""https://www.omim.org/entry/229070"">229070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10773385"">10773385</a>
 著者        Layman LC, McDonough PG
 タイトル      Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
 雑誌        Mol Cell Endocrinol 161:9-17 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0303-7207(99)00217-8"">10.1016/S0303-7207(99)00217-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9280841"">9280841</a>
 著者        Matthews C, Chatterjee VK
 タイトル      Isolated deficiency of follicle-stimulating hormone re-revisited.
 雑誌        N Engl J Med 337:642 (1997)
 DOI:<a href=""https://doi.org/10.1056/NEJM199708283370918"">10.1056/NEJM199708283370918</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17854805"">17854805</a>
 著者        Calongos G, Hasegawa A, Komori S, Koyama K
 タイトル      Comparison of urinary and recombinant follicle-stimulating hormone in in vitro growth, maturation, and fertilization of mouse preantral follicles.
 雑誌        Fertil Steril 89:1482-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2007.04.058"">10.1016/j.fertnstert.2007.04.058</a>"
H01254,プロトロンビン欠乏症,,,"Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.",,,F2 [HSA:2147] [KO:K01313],,,,,,"ICD-11: 3B14
 ICD-10: D68
 OMIM: 613679","PMID:19141155
 著者        Meeks SL, Abshire TC
 タイトル      Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment.
 雑誌        Haemophilia 14:1159-63 (2008)
 DOI:10.1111/j.1365-2516.2008.01832.x
 PMID:21692854
 著者        Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A
 タイトル      A severe neonatal presentation of factor II deficiency.
 雑誌        Eur J Haematol 87:464-6 (2011)
 DOI:10.1111/j.1600-0609.2011.01670.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01254"">H01254</a>",プロトロンビン欠乏症,"Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.",,"F2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2147"">2147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01313"">K01313</a>]",,,,,,"ICD-11: 3B14
 ICD-10: D68
 OMIM: <a href=""https://www.omim.org/entry/613679"">613679</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141155"">19141155</a>
 著者        Meeks SL, Abshire TC
 タイトル      Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment.
 雑誌        Haemophilia 14:1159-63 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01832.x"">10.1111/j.1365-2516.2008.01832.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21692854"">21692854</a>
 著者        Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A
 タイトル      A severe neonatal presentation of factor II deficiency.
 雑誌        Eur J Haematol 87:464-6 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0609.2011.01670.x"">10.1111/j.1600-0609.2011.01670.x</a>"
H01255,若年発症型ジストニー,,,"Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.",先天奇形,,ACTB [HSA:60] [KO:K05692],,,,,,"ICD-11: 8A02.0Y
 ICD-10: Q87.8
 MeSH: C537704
 OMIM: 607371","PMID:16685646
 著者        Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH
 タイトル      A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
 雑誌        Am J Hum Genet 78:947-60 (2006)
 DOI:10.1086/504271
 PMID:12325076
 著者        Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, Wainer BH
 タイトル      Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
 雑誌        Ann Neurol 52:465-76 (2002)
 DOI:10.1002/ana.10319","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01255"">H01255</a>",若年発症型ジストニー,"Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.",,"ACTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60"">60</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]",,,,,,"ICD-11: 8A02.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537704"">C537704</a>
 OMIM: <a href=""https://www.omim.org/entry/607371"">607371</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16685646"">16685646</a>
 著者        Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH
 タイトル      A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
 雑誌        Am J Hum Genet 78:947-60 (2006)
 DOI:<a href=""https://doi.org/10.1086/504271"">10.1086/504271</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12325076"">12325076</a>
 著者        Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, Wainer BH
 タイトル      Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
 雑誌        Ann Neurol 52:465-76 (2002)
 DOI:<a href=""https://doi.org/10.1002/ana.10319"">10.1002/ana.10319</a>"
H01256,中心窩低形成,,,"Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It can be isolated or associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia.",神経系疾患,,"(FVH1) PAX6 [HSA:5080] [KO:K08031]
 (FVH2) SLC38A8 [HSA:146167] [KO:K14994]",,,,,,"ICD-11: LA13.8
 ICD-10: Q14
 MeSH: C565005
 OMIM: 136520 609218","PMID:8640214
 著者        Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M
 タイトル      PAX6 missense mutation in isolated foveal hypoplasia.
 雑誌        Nat Genet 13:141-2 (1996)
 DOI:10.1038/ng0696-141
 PMID:9931324
 著者        Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V
 タイトル      Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
 雑誌        Hum Mol Genet 8:165-72 (1999)
 DOI:10.1093/hmg/8.2.165
 PMID:19590516
 著者        Vincent A, Kemmanu V, Shetty R, Anandula V, Madhavarao B, Shetty B
 タイトル      Variable expressivity of ocular associations of foveal hypoplasia in a family.
 雑誌        Eye (Lond) 23:1735-9 (2009)
 DOI:10.1038/eye.2009.180
 PMID:24290379
 著者        Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C
 タイトル      Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
 雑誌        Am J Hum Genet 93:1143-50 (2013)
 DOI:10.1016/j.ajhg.2013.11.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01256"">H01256</a>",中心窩低形成,"Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It can be isolated or associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia.",,"(FVH1) PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]
 (FVH2) SLC38A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146167"">146167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14994"">K14994</a>]",,,,,,"ICD-11: LA13.8
 ICD-10: Q14
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565005"">C565005</a>
 OMIM: <a href=""https://www.omim.org/entry/136520"">136520</a> <a href=""https://www.omim.org/entry/609218"">609218</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8640214"">8640214</a>
 著者        Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M
 タイトル      PAX6 missense mutation in isolated foveal hypoplasia.
 雑誌        Nat Genet 13:141-2 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0696-141"">10.1038/ng0696-141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9931324"">9931324</a>
 著者        Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V
 タイトル      Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
 雑誌        Hum Mol Genet 8:165-72 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.2.165"">10.1093/hmg/8.2.165</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19590516"">19590516</a>
 著者        Vincent A, Kemmanu V, Shetty R, Anandula V, Madhavarao B, Shetty B
 タイトル      Variable expressivity of ocular associations of foveal hypoplasia in a family.
 雑誌        Eye (Lond) 23:1735-9 (2009)
 DOI:<a href=""https://doi.org/10.1038/eye.2009.180"">10.1038/eye.2009.180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24290379"">24290379</a>
 著者        Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C
 タイトル      Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
 雑誌        Am J Hum Genet 93:1143-50 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.002"">10.1016/j.ajhg.2013.11.002</a>"
H01257,GABA トランスアミナーゼ欠損症,,,"GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and electroencephalographic abnormalities.",先天性代謝異常症,,ABAT [HSA:18] [KO:K13524],,,,,,"ICD-11: 5C59.1
 ICD-10: E72.8
 MeSH: C535407
 OMIM: 613163","PMID:10407778
 著者        Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM
 タイトル      4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
 雑誌        J Inherit Metab Dis 22:414-27 (1999)
 DOI:10.1023/A:1005500122231","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01257"">H01257</a>",GABA トランスアミナーゼ欠損症,"GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and electroencephalographic abnormalities.",,"ABAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:18"">18</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13524"">K13524</a>]",,,,,,"ICD-11: 5C59.1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535407"">C535407</a>
 OMIM: <a href=""https://www.omim.org/entry/613163"">613163</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10407778"">10407778</a>
 著者        Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM
 タイトル      4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
 雑誌        J Inherit Metab Dis 22:414-27 (1999)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005500122231"">1005500122231</a>"
H01258,全般てんかん及び発作性ジスキネジア,,,"Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. It has been reported that a mutation of the alpha subunit of the BK channel causes a syndrome of coexistent epilepsy and paroxysmal dyskinesia, which is called generalized epilepsy and paroxysmal dyskinesia (GEPD).",神経系疾患,,KCNMA1 [HSA:3778] [KO:K04936],,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.4
 MeSH: C563719
 OMIM: 609446","PMID:15937479
 著者        Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Luders HO, Shi J, Cui J, Richerson GB, Wang QK
 タイトル      Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
 雑誌        Nat Genet 37:733-8 (2005)
 DOI:10.1038/ng1585","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01258"">H01258</a>",全般てんかん及び発作性ジスキネジア,"Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. It has been reported that a mutation of the alpha subunit of the BK channel causes a syndrome of coexistent epilepsy and paroxysmal dyskinesia, which is called generalized epilepsy and paroxysmal dyskinesia (GEPD).",,"KCNMA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3778"">3778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04936"">K04936</a>]",,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563719"">C563719</a>
 OMIM: <a href=""https://www.omim.org/entry/609446"">609446</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15937479"">15937479</a>
 著者        Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Luders HO, Shi J, Cui J, Richerson GB, Wang QK
 タイトル      Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
 雑誌        Nat Genet 37:733-8 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1585"">10.1038/ng1585</a>"
H01259,巨大軸索性ニューロパチー,,,"Giant axonal neuropathy is a disorder that shows giant axons, caused by accumulation of neurofilaments. Giant axonal neuropathy 1 (GAN1) is autosomal recessively inherited and caused by mutations in GAN (gigaxonin). GAN1 is characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal neuropathy-2 (GAN2) is an autosomal dominant disorder, caused by mutations in DCAF8. GAN2 is characterized by distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade.",神経変性疾患,,"(GAN1) GAN [HSA:8139] [KO:K10453]
 (GAN2) DCAF8 [HSA:50717] [KO:K11804]",,,,,,"ICD-11: 8C2Y
 ICD-10: G60.8
 MeSH: D056768
 OMIM: 256850 610100","PMID:17587580
 著者        Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gartner J, Claeys KG, Appenzeller S, Rautenstrauss B, Huhne K, Ramos-Arroyo MA, Worle H, Moilanen JS, Hammans S, Kuhlenbaumer G
 タイトル      Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
 雑誌        Neuromuscul Disord 17:624-30 (2007)
 DOI:10.1016/j.nmd.2007.03.012
 PMID:24500646
 著者        Klein CJ, Wu Y, Vogel P, Goebel HH, Bonnemann C, Zukosky K, Botuyan MV, Duan X, Middha S, Atkinson EJ, Mer G, Dyck PJ
 タイトル      Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
 雑誌        Neurology 82:873-8 (2014)
 DOI:10.1212/WNL.0000000000000206","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01259"">H01259</a>",巨大軸索性ニューロパチー,"Giant axonal neuropathy is a disorder that shows giant axons, caused by accumulation of neurofilaments. Giant axonal neuropathy 1 (GAN1) is autosomal recessively inherited and caused by mutations in GAN (gigaxonin). GAN1 is characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal neuropathy-2 (GAN2) is an autosomal dominant disorder, caused by mutations in DCAF8. GAN2 is characterized by distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade.",,"(GAN1) GAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8139"">8139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10453"">K10453</a>]
 (GAN2) DCAF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50717"">50717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11804"">K11804</a>]",,,,,,"ICD-11: 8C2Y
 ICD-10: G60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056768"">D056768</a>
 OMIM: <a href=""https://www.omim.org/entry/256850"">256850</a> <a href=""https://www.omim.org/entry/610100"">610100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17587580"">17587580</a>
 著者        Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gartner J, Claeys KG, Appenzeller S, Rautenstrauss B, Huhne K, Ramos-Arroyo MA, Worle H, Moilanen JS, Hammans S, Kuhlenbaumer G
 タイトル      Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
 雑誌        Neuromuscul Disord 17:624-30 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2007.03.012"">10.1016/j.nmd.2007.03.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24500646"">24500646</a>
 著者        Klein CJ, Wu Y, Vogel P, Goebel HH, Bonnemann C, Zukosky K, Botuyan MV, Duan X, Middha S, Atkinson EJ, Mer G, Dyck PJ
 タイトル      Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
 雑誌        Neurology 82:873-8 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000206"">10.1212/WNL.0000000000000206</a>"
H01260,フィブロネクチン腎症,,,"Glomerulopathy with fibronectin deposits (GFND) is a hereditary kidney disease with proteinuria, microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of GFND.",,,FN1 [HSA:2335] [KO:K05717],,,,,,"ICD-11: MF81
 ICD-10: N07.6
 MeSH: C536826
 OMIM: 601894","PMID:18268355
 著者        Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M
 タイトル      Mutations in FN1 cause glomerulopathy with fibronectin deposits.
 雑誌        Proc Natl Acad Sci U S A 105:2538-43 (2008)
 DOI:10.1073/pnas.0707730105","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01260"">H01260</a>",フィブロネクチン腎症,"Glomerulopathy with fibronectin deposits (GFND) is a hereditary kidney disease with proteinuria, microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of GFND.",,"FN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2335"">2335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05717"">K05717</a>]",,,,,,"ICD-11: MF81
 ICD-10: N07.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536826"">C536826</a>
 OMIM: <a href=""https://www.omim.org/entry/601894"">601894</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18268355"">18268355</a>
 著者        Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M
 タイトル      Mutations in FN1 cause glomerulopathy with fibronectin deposits.
 雑誌        Proc Natl Acad Sci U S A 105:2538-43 (2008)
 DOI:<a href=""https://doi.org/10.1073/pnas.0707730105"">10.1073/pnas.0707730105</a>"
H01261,先天性グルコース・ガラクトース吸収不全症,,,"Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet.",先天性代謝異常症,,SLC5A1 [HSA:6523] [KO:K14158],,,,,,"ICD-11: 5C61.Y
 ICD-10: E74.3
 MeSH: C562602
 OMIM: 606824","PMID:10036327
 著者        Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM
 タイトル      Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.
 雑誌        Biochim Biophys Acta 1453:297-303 (1999)
 DOI:10.1016/S0925-4439(98)00109-4
 PMID:11406349
 著者        Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T
 タイトル      A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.
 雑誌        Biochim Biophys Acta 1536:141-7 (2001)
 DOI:10.1016/S0925-4439(01)00043-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01261"">H01261</a>",先天性グルコース・ガラクトース吸収不全症,"Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet.",,"SLC5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6523"">6523</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14158"">K14158</a>]",,,,,,"ICD-11: 5C61.Y
 ICD-10: E74.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562602"">C562602</a>
 OMIM: <a href=""https://www.omim.org/entry/606824"">606824</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10036327"">10036327</a>
 著者        Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM
 タイトル      Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.
 雑誌        Biochim Biophys Acta 1453:297-303 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(98)00109-4"">10.1016/S0925-4439(98)00109-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11406349"">11406349</a>
 著者        Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T
 タイトル      A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.
 雑誌        Biochim Biophys Acta 1536:141-7 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(01)00043-6"">10.1016/S0925-4439(01)00043-6</a>"
H01262,ホルムイミノトランスフェラーゼ欠損症,,,Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype include megaloblastic anemia and mental retardation. Features of a mild phenotype include mild developmental delay and no hematological abnormalities.,先天性代謝異常症,,FTCD [HSA:10841] [KO:K13990],,,,,,"ICD-11: 3A02.Y 5C63.1
 ICD-10: E70.8
 MeSH: C537425
 OMIM: 229100","PMID:12815595
 著者        Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS
 タイトル      The molecular basis of glutamate formiminotransferase deficiency.
 雑誌        Hum Mutat 22:67-73 (2003)
 DOI:10.1002/humu.10236","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01262"">H01262</a>",ホルムイミノトランスフェラーゼ欠損症,Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype include megaloblastic anemia and mental retardation. Features of a mild phenotype include mild developmental delay and no hematological abnormalities.,,"FTCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10841"">10841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13990"">K13990</a>]",,,,,,"ICD-11: 3A02.Y 5C63.1
 ICD-10: E70.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537425"">C537425</a>
 OMIM: <a href=""https://www.omim.org/entry/229100"">229100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12815595"">12815595</a>
 著者        Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS
 タイトル      The molecular basis of glutamate formiminotransferase deficiency.
 雑誌        Hum Mutat 22:67-73 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10236"">10.1002/humu.10236</a>"
H01263,"進行性心臓伝導障害;
 進行性家族性心臓ブロック",,,"Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4.",循環器系疾患,,"(type IA) SCN5A [HSA:6331] [KO:K04838]
 (type IB) TRPM4 [HSA:54795] [KO:K04979]",,,,,Brugada syndrome is described in H00728. [DS:H00728],"ICD-11: BC63.Y
 ICD-10: Q20.9
 OMIM: 113900 604559","PMID:16643399
 著者        Probst V, Allouis M, Sacher F, Pattier S, Babuty D, Mabo P, Mansourati J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H
 タイトル      Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
 雑誌        J Cardiovasc Electrophysiol 17:270-5 (2006)
 DOI:10.1111/j.1540-8167.2006.00349.x
 PMID:19726882
 著者        Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O
 タイトル      Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
 雑誌        J Clin Invest 119:2737-44 (2009)
 DOI:10.1172/JCI38292","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01263"">H01263</a>","進行性心臓伝導障害;
 進行性家族性心臓ブロック","Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4.",,"(type IA) SCN5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6331"">6331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04838"">K04838</a>]
 (type IB) TRPM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54795"">54795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04979"">K04979</a>]",,,,,"Brugada syndrome is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00728."">H00728.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00728"">H00728</a>]","ICD-11: BC63.Y
 ICD-10: Q20.9
 OMIM: <a href=""https://www.omim.org/entry/113900"">113900</a> <a href=""https://www.omim.org/entry/604559"">604559</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16643399"">16643399</a>
 著者        Probst V, Allouis M, Sacher F, Pattier S, Babuty D, Mabo P, Mansourati J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H
 タイトル      Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
 雑誌        J Cardiovasc Electrophysiol 17:270-5 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1540-8167.2006.00349.x"">10.1111/j.1540-8167.2006.00349.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19726882"">19726882</a>
 著者        Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O
 タイトル      Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
 雑誌        J Clin Invest 119:2737-44 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI38292"">10.1172/JCI38292</a>"
H01264,免疫不全を伴う肝静脈閉塞性疾患,,,Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear body protein Sp110 were found to be associated with VODI.,,,SP110 [HSA:3431] [KO:K24503],,,,,,"ICD-11: 4A01.33
 ICD-10: K76.5
 MeSH: C537257
 OMIM: 235550","PMID:16648851
 著者        Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF
 タイトル      Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
 雑誌        Nat Genet 38:620-2 (2006)
 DOI:10.1038/ng1780","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01264"">H01264</a>",免疫不全を伴う肝静脈閉塞性疾患,Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear body protein Sp110 were found to be associated with VODI.,,"SP110 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3431"">3431</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24503"">K24503</a>]",,,,,,"ICD-11: 4A01.33
 ICD-10: K76.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537257"">C537257</a>
 OMIM: <a href=""https://www.omim.org/entry/235550"">235550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16648851"">16648851</a>
 著者        Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF
 タイトル      Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
 雑誌        Nat Genet 38:620-2 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1780"">10.1038/ng1780</a>"
H01265,Hydrolethalus 症候群,,,"Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development of the midline.",先天奇形,,"HYLS1 [HSA:219844] [KO:K16472]
 KIF7 [HSA:374654] [KO:K18806]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536079
 OMIM: 236680 614120","PMID:15843405
 著者        Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L
 タイトル      Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
 雑誌        Hum Mol Genet 14:1475-88 (2005)
 DOI:10.1093/hmg/ddi157
 PMID:21552264
 著者        Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T
 タイトル      KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
 雑誌        Nat Genet 43:601-6 (2011)
 DOI:10.1038/ng.826","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01265"">H01265</a>",Hydrolethalus 症候群,"Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development of the midline.",,"HYLS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:219844"">219844</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16472"">K16472</a>]
 KIF7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374654"">374654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18806"">K18806</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536079"">C536079</a>
 OMIM: <a href=""https://www.omim.org/entry/236680"">236680</a> <a href=""https://www.omim.org/entry/614120"">614120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15843405"">15843405</a>
 著者        Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L
 タイトル      Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
 雑誌        Hum Mol Genet 14:1475-88 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi157"">10.1093/hmg/ddi157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21552264"">21552264</a>
 著者        Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T
 タイトル      KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
 雑誌        Nat Genet 43:601-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.826"">10.1038/ng.826</a>"
H01266,高カロチン血症およびビタミン A 欠乏症,,,"Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential for normal embryonic development as well as normal physiological functions.",先天性代謝異常症,,BCMO1 [HSA:53630] [KO:K00515],,,,,,"ICD-11: 5B55 5B90.1
 ICD-10: E50 E67.1
 MeSH: C567296
 OMIM: 115300","PMID:17951468
 著者        Lindqvist A, Sharvill J, Sharvill DE, Andersson S
 タイトル      Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A.
 雑誌        J Nutr 137:2346-50 (2007)
 DOI:10.1093/jn/137.11.2346","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01266"">H01266</a>",高カロチン血症およびビタミン A 欠乏症,"Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential for normal embryonic development as well as normal physiological functions.",,"BCMO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53630"">53630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00515"">K00515</a>]",,,,,,"ICD-11: 5B55 5B90.1
 ICD-10: E50 E67.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567296"">C567296</a>
 OMIM: <a href=""https://www.omim.org/entry/115300"">115300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17951468"">17951468</a>
 著者        Lindqvist A, Sharvill J, Sharvill DE, Andersson S
 タイトル      Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A.
 雑誌        J Nutr 137:2346-50 (2007)
 DOI:<a href=""https://doi.org/10.1093/jn/137.11.2346"">10.1093/jn/137.11.2346</a>"
H01267,"家族性高インスリン性低血糖症
 上位グループ    二次性高アンモニア血症 [DS:H01400]",,,"Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations.",先天性代謝異常症,,"(HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032]
 (HHF2) KCNJ11 [HSA:3767] [KO:K05004]
 (HHF3) GCK [HSA:2645] [KO:K12407]
 (HHF4) HADHSC [HSA:3033] [KO:K00022]
 (HHF5) INSR [HSA:3643] [KO:K04527]
 (HHF6) GLUD1 [HSA:2746] [KO:K00261]
 (HHF7) SLC16A1 [HSA:6566] [KO:K08179]",,,,ジアゾキシド [DR:D00294],Leucine-induced hypoglycemia (LIH),"ICD-11: 5A45
 ICD-10: E16.1
 MeSH: D006946
 OMIM: 256450 601820 602485 609975 609968 606762 610021 240800","PMID:16357843 (HHF1/2)
 著者        Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA
 タイトル      Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
 雑誌        Mod Pathol 19:122-9 (2006)
 DOI:10.1038/modpathol.3800497
 PMID:9435328 (HHF3)
 著者        Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC
 タイトル      Familial hyperinsulinism caused by an activating glucokinase mutation.
 雑誌        N Engl J Med 338:226-30 (1998)
 DOI:10.1056/NEJM199801223380404
 PMID:11489939 (HHF4)
 著者        Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE
 タイトル      Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
 雑誌        J Clin Invest 108:457-65 (2001)
 DOI:10.1172/JCI11294
 PMID:15161766 (HHF5)
 著者        Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H
 タイトル      A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.
 雑誌        Diabetes 53:1592-8 (2004)
 DOI:10.2337/diabetes.53.6.1592
 PMID:9571255 (HHF6)
 著者        Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M
 タイトル      Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
 雑誌        N Engl J Med 338:1352-7 (1998)
 DOI:10.1056/NEJM199805073381904
 PMID:17701893 (HHF7)
 著者        Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J
 タイトル      Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
 雑誌        Am J Hum Genet 81:467-74 (2007)
 DOI:10.1086/520960
 PMID:16356235 (Drug)
 著者        Lheureux PE, Zahir S, Penaloza A, Gris M
 タイトル      Bench-to-bedside review: Antidotal treatment of sulfonylurea-induced hypoglycaemia with octreotide.
 雑誌        Crit Care 9:543-9 (2005)
 DOI:10.1186/cc3807
 PMID:21378225 (Description)
 著者        Palladino AA, Stanley CA
 タイトル      Nesidioblastosis no longer! It's all about genetics.
 雑誌        J Clin Endocrinol Metab 96:617-9 (2011)
 DOI:10.1210/jc.2011-0164
 PMID:15356046 (LIH)
 著者        Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA
 タイトル      Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
 雑誌        J Clin Endocrinol Metab 89:4450-6 (2004)
 DOI:10.1210/jc.2004-0441","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01267"">H01267</a>","家族性高インスリン性低血糖症
 上位グループ    二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations.",,"(HHF1/ LIH) ABCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6833"">6833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05032"">K05032</a>]
 (HHF2) KCNJ11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3767"">3767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05004"">K05004</a>]
 (HHF3) GCK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2645"">2645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12407"">K12407</a>]
 (HHF4) HADHSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3033"">3033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00022"">K00022</a>]
 (HHF5) INSR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3643"">3643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04527"">K04527</a>]
 (HHF6) GLUD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2746"">2746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00261"">K00261</a>]
 (HHF7) SLC16A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6566"">6566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08179"">K08179</a>]",,,,"ジアゾキシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00294"">D00294</a>]",Leucine-induced hypoglycemia (LIH),"ICD-11: 5A45
 ICD-10: E16.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006946"">D006946</a>
 OMIM: <a href=""https://www.omim.org/entry/256450"">256450</a> <a href=""https://www.omim.org/entry/601820"">601820</a> <a href=""https://www.omim.org/entry/602485"">602485</a> <a href=""https://www.omim.org/entry/609975"">609975</a> <a href=""https://www.omim.org/entry/609968"">609968</a> <a href=""https://www.omim.org/entry/606762"">606762</a> <a href=""https://www.omim.org/entry/610021"">610021</a> <a href=""https://www.omim.org/entry/240800"">240800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16357843"">16357843</a> (HHF1/2)
 著者        Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA
 タイトル      Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
 雑誌        Mod Pathol 19:122-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/modpathol.3800497"">10.1038/modpathol.3800497</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9435328"">9435328</a> (HHF3)
 著者        Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC
 タイトル      Familial hyperinsulinism caused by an activating glucokinase mutation.
 雑誌        N Engl J Med 338:226-30 (1998)
 DOI:<a href=""https://doi.org/10.1056/NEJM199801223380404"">10.1056/NEJM199801223380404</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11489939"">11489939</a> (HHF4)
 著者        Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE
 タイトル      Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
 雑誌        J Clin Invest 108:457-65 (2001)
 DOI:<a href=""https://doi.org/10.1172/JCI11294"">10.1172/JCI11294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15161766"">15161766</a> (HHF5)
 著者        Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H
 タイトル      A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.
 雑誌        Diabetes 53:1592-8 (2004)
 DOI:<a href=""https://doi.org/10.2337/diabetes.53.6.1592"">10.2337/diabetes.53.6.1592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9571255"">9571255</a> (HHF6)
 著者        Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M
 タイトル      Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
 雑誌        N Engl J Med 338:1352-7 (1998)
 DOI:<a href=""https://doi.org/10.1056/NEJM199805073381904"">10.1056/NEJM199805073381904</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17701893"">17701893</a> (HHF7)
 著者        Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J
 タイトル      Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
 雑誌        Am J Hum Genet 81:467-74 (2007)
 DOI:<a href=""https://doi.org/10.1086/520960"">10.1086/520960</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16356235"">16356235</a> (Drug)
 著者        Lheureux PE, Zahir S, Penaloza A, Gris M
 タイトル      Bench-to-bedside review: Antidotal treatment of sulfonylurea-induced hypoglycaemia with octreotide.
 雑誌        Crit Care 9:543-9 (2005)
 DOI:<a href=""https://doi.org/10.1186/cc3807"">10.1186/cc3807</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21378225"">21378225</a> (Description)
 著者        Palladino AA, Stanley CA
 タイトル      Nesidioblastosis no longer! It's all about genetics.
 雑誌        J Clin Endocrinol Metab 96:617-9 (2011)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-0164"">10.1210/jc.2011-0164</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15356046"">15356046</a> (LIH)
 著者        Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA
 タイトル      Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
 雑誌        J Clin Endocrinol Metab 89:4450-6 (2004)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-0441"">10.1210/jc.2004-0441</a>"
H01268,"HHH症候群;
 高オルニチン血症・高アンモニア血症・ホモシトルリン尿症
 上位グループ    尿素サイクル異常症 [DS:H01398]",,,"Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and age of onset. The HHH syndrome is thought to be caused by the defective activities of the mitochondrial carrier responsible for transporting ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome.",,,SLC25A15 [HSA:10166] [KO:K15101],,,,,,"ICD-11: 5C50.AY
 ICD-10: E72.4
 MeSH: C538380
 OMIM: 238970","PMID:22292090
 著者        Wang JF, Chou KC
 タイトル      Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
 雑誌        PLoS One 7:e31048 (2012)
 DOI:10.1371/journal.pone.0031048
 PMID:22649802
 著者        Camacho J, Rioseco-Camacho N
 タイトル      Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01268"">H01268</a>","HHH症候群;
 高オルニチン血症・高アンモニア血症・ホモシトルリン尿症
 上位グループ    尿素サイクル異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>]","Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and age of onset. The HHH syndrome is thought to be caused by the defective activities of the mitochondrial carrier responsible for transporting ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome.",,"SLC25A15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10166"">10166</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15101"">K15101</a>]",,,,,,"ICD-11: 5C50.AY
 ICD-10: E72.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538380"">C538380</a>
 OMIM: <a href=""https://www.omim.org/entry/238970"">238970</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22292090"">22292090</a>
 著者        Wang JF, Chou KC
 タイトル      Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
 雑誌        PLoS One 7:e31048 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0031048"">10.1371/journal.pone.0031048</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22649802"">22649802</a>
 著者        Camacho J, Rioseco-Camacho N
 タイトル      Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
 雑誌        GeneReviews (1993)"
H01269,"先天性甲状腺機能亢進症
 下位グループ    家族性妊娠甲状腺機能亢進症
 非自己免疫性甲状腺機能亢進症",,,"Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also causes the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum.",内分泌疾患,nt06322  TRH-TSH-TH signaling,TSHR [HSA:7253] [KO:K04249],,,,,,"ICD-11: 5A02
 ICD-10: E05.8
 MeSH: C563786 C566384
 OMIM: 603373 609152","PMID:22371259
 著者        Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M
 タイトル      Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.
 雑誌        Eur J Pediatr 171:1133-7 (2012)
 DOI:10.1007/s00431-012-1702-z
 PMID:10427147
 著者        Asteria C
 タイトル      TSH receptor gene mutations and familial gestational hyperthyroidism.
 雑誌        Eur J Endocrinol 141:93-4 (1999)
 DOI:10.1530/eje.0.1410093
 PMID:20172477 (drug)
 著者        Leung AM, Pearce EN, Braverman LE
 タイトル      Perchlorate, iodine and the thyroid.
 雑誌        Best Pract Res Clin Endocrinol Metab 24:133-41 (2010)
 DOI:10.1016/j.beem.2009.08.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01269"">H01269</a>","先天性甲状腺機能亢進症
 下位グループ    家族性妊娠甲状腺機能亢進症
 非自己免疫性甲状腺機能亢進症","Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also causes the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum.","<a href=""https://www.kegg.jp/network/nt06322"">nt06322</a>  TRH-TSH-TH signaling","TSHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7253"">7253</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04249"">K04249</a>]",,,,,,"ICD-11: 5A02
 ICD-10: E05.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563786"">C563786</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566384"">C566384</a>
 OMIM: <a href=""https://www.omim.org/entry/603373"">603373</a> <a href=""https://www.omim.org/entry/609152"">609152</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22371259"">22371259</a>
 著者        Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M
 タイトル      Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.
 雑誌        Eur J Pediatr 171:1133-7 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00431-012-1702-z"">10.1007/s00431-012-1702-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10427147"">10427147</a>
 著者        Asteria C
 タイトル      TSH receptor gene mutations and familial gestational hyperthyroidism.
 雑誌        Eur J Endocrinol 141:93-4 (1999)
 DOI:<a href=""https://doi.org/10.1530/eje.0.1410093"">10.1530/eje.0.1410093</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20172477"">20172477</a> (drug)
 著者        Leung AM, Pearce EN, Braverman LE
 タイトル      Perchlorate, iodine and the thyroid.
 雑誌        Best Pract Res Clin Endocrinol Metab 24:133-41 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2009.08.009"">10.1016/j.beem.2009.08.009</a>"
H01270,家族性低ベータリポタンパク血症,,,Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.,先天性代謝異常症,,"(FHBL1) APOB [HSA:338] [KO:K14462]
 (FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]",,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: D006995
 OMIM: 615558 605019","PMID:12551903 (FHBL1)
 著者        Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z
 タイトル      A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
 雑誌        J Biol Chem 278:13442-52 (2003)
 DOI:10.1074/jbc.M300235200
 PMID:20942659 (FHBL2)
 著者        Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S
 タイトル      Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
 雑誌        N Engl J Med 363:2220-7 (2010)
 DOI:10.1056/NEJMoa1002926","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01270"">H01270</a>",家族性低ベータリポタンパク血症,Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.,,"(FHBL1) APOB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338"">338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14462"">K14462</a>]
 (FHBL2) ANGPTL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27329"">27329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22288"">K22288</a>]",,,,,,"ICD-11: 5C81.1
 ICD-10: E78.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006995"">D006995</a>
 OMIM: <a href=""https://www.omim.org/entry/615558"">615558</a> <a href=""https://www.omim.org/entry/605019"">605019</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12551903"">12551903</a> (FHBL1)
 著者        Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z
 タイトル      A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
 雑誌        J Biol Chem 278:13442-52 (2003)
 DOI:<a href=""https://doi.org/10.1074/jbc.M300235200"">10.1074/jbc.M300235200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20942659"">20942659</a> (FHBL2)
 著者        Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S
 タイトル      Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
 雑誌        N Engl J Med 363:2220-7 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1002926"">10.1056/NEJMoa1002926</a>"
H01271,HDR症候群,,,"Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome.",先天奇形,,GATA3 [HSA:2625] [KO:K17895],,,,,DiGeorge syndrome is described in H01524. [DS:H01524],"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C537907
 OMIM: 146255","PMID:11389161
 著者        Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T
 タイトル      GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
 雑誌        J Med Genet 38:374-80 (2001)
 DOI:10.1136/jmg.38.6.374
 PMID:10935639
 著者        Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K
 タイトル      GATA3 haplo-insufficiency causes human HDR syndrome.
 雑誌        Nature 406:419-22 (2000)
 DOI:10.1038/35019088","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01271"">H01271</a>",HDR症候群,"Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome.",,"GATA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2625"">2625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17895"">K17895</a>]",,,,,"DiGeorge syndrome is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01524."">H01524.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01524"">H01524</a>]","ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537907"">C537907</a>
 OMIM: <a href=""https://www.omim.org/entry/146255"">146255</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11389161"">11389161</a>
 著者        Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T
 タイトル      GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
 雑誌        J Med Genet 38:374-80 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.6.374"">10.1136/jmg.38.6.374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10935639"">10935639</a>
 著者        Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K
 タイトル      GATA3 haplo-insufficiency causes human HDR syndrome.
 雑誌        Nature 406:419-22 (2000)
 DOI:<a href=""https://doi.org/10.1038/35019088"">10.1038/35019088</a>"
H01272,左心低形成症候群,,,"Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS.",先天奇形,,"GJA1 [HSA:2697] [KO:K07372]
 NKX2-5 [HSA:1482] [KO:K09345]
 HAND1 [HSA:9421] [KO:K09071]",,,,,Defects in NOTCH1 are a cause of bicuspid aortic valve. [DS:H00554],"ICD-11: LA89.3
 ICD-10: Q23.4
 MeSH: D018636
 OMIM: 241550 614435","PMID:19298922
 著者        Grossfeld P, Ye M, Harvey R
 タイトル      Hypoplastic left heart syndrome: new genetic insights.
 雑誌        J Am Coll Cardiol 53:1072-4 (2009)
 DOI:10.1016/j.jacc.2008.12.024
 PMID:11470490 (GJA1)
 著者        Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
 タイトル      Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
 雑誌        Mutat Res 479:173-86 (2001)
 DOI:10.1016/S0027-5107(01)00160-9
 PMID:12798584 (NKX2-5)
 著者        Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP
 タイトル      Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
 雑誌        J Am Coll Cardiol 41:2072-6 (2003)
 DOI:10.1016/S0735-1097(03)00420-0
 PMID:18276607 (HAND1)
 著者        Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J
 タイトル      A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.
 雑誌        Hum Mol Genet 17:1397-405 (2008)
 DOI:10.1093/hmg/ddn027","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01272"">H01272</a>",左心低形成症候群,"Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS.",,"GJA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2697"">2697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07372"">K07372</a>]
 NKX2-5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1482"">1482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09345"">K09345</a>]
 HAND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9421"">9421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09071"">K09071</a>]",,,,,"Defects in NOTCH1 are a cause of bicuspid aortic valve. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00554"">H00554</a>]","ICD-11: LA89.3
 ICD-10: Q23.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018636"">D018636</a>
 OMIM: <a href=""https://www.omim.org/entry/241550"">241550</a> <a href=""https://www.omim.org/entry/614435"">614435</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19298922"">19298922</a>
 著者        Grossfeld P, Ye M, Harvey R
 タイトル      Hypoplastic left heart syndrome: new genetic insights.
 雑誌        J Am Coll Cardiol 53:1072-4 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2008.12.024"">10.1016/j.jacc.2008.12.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11470490"">11470490</a> (GJA1)
 著者        Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
 タイトル      Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
 雑誌        Mutat Res 479:173-86 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0027-5107(01)00160-9"">10.1016/S0027-5107(01)00160-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12798584"">12798584</a> (NKX2-5)
 著者        Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP
 タイトル      Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
 雑誌        J Am Coll Cardiol 41:2072-6 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0735-1097(03)00420-0"">10.1016/S0735-1097(03)00420-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18276607"">18276607</a> (HAND1)
 著者        Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J
 タイトル      A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.
 雑誌        Hum Mol Genet 17:1397-405 (2008)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn027"">10.1093/hmg/ddn027</a>"
H01273,常染色体優性遺伝性角膜炎,,,"Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.",神経系疾患,,PAX6 [HSA:5080] [KO:K08031],,,,,,"ICD-11: 9A7Y
 ICD-10: H16.8
 MeSH: C537022
 OMIM: 148190","PMID:7668281
 著者        Mirzayans F, Pearce WG, MacDonald IM, Walter MA
 タイトル      Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
 雑誌        Am J Hum Genet 57:539-48 (1995)
 PMID:9482572
 著者        Prosser J, van Heyningen V
 タイトル      PAX6 mutations reviewed.
 雑誌        Hum Mutat 11:93-108 (1998)
 DOI:10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M
 PMID:11309364
 著者        Singh S, Chao LY, Mishra R, Davies J, Saunders GF
 タイトル      Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
 雑誌        Hum Mol Genet 10:911-8 (2001)
 DOI:10.1093/hmg/10.9.911","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01273"">H01273</a>",常染色体優性遺伝性角膜炎,"Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.",,"PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]",,,,,,"ICD-11: 9A7Y
 ICD-10: H16.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537022"">C537022</a>
 OMIM: <a href=""https://www.omim.org/entry/148190"">148190</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7668281"">7668281</a>
 著者        Mirzayans F, Pearce WG, MacDonald IM, Walter MA
 タイトル      Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
 雑誌        Am J Hum Genet 57:539-48 (1995)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9482572"">9482572</a>
 著者        Prosser J, van Heyningen V
 タイトル      PAX6 mutations reviewed.
 雑誌        Hum Mutat 11:93-108 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1998)11:"">10.1002/(SICI)1098-1004(1998)11:</a><a href=""https://doi.org/2<93:"">2<93:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-M"">AID-HUMU1>3.0.CO;2-M</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11309364"">11309364</a>
 著者        Singh S, Chao LY, Mishra R, Davies J, Saunders GF
 タイトル      Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
 雑誌        Hum Mol Genet 10:911-8 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.9.911"">10.1093/hmg/10.9.911</a>"
H01274,IGF-I resistance,,,Growth delay due to IGF-I resistance is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR gene cause postnatal growth failure.,,,IGF1R [HSA:3480] [KO:K05087],,,,,,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: C564816
 OMIM: 270450","PMID:14657428
 著者        Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD
 タイトル      IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
 雑誌        N Engl J Med 349:2211-22 (2003)
 DOI:10.1056/NEJMoa010107
 PMID:15928254
 著者        Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S
 タイトル      Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
 雑誌        J Clin Endocrinol Metab 90:4679-87 (2005)
 DOI:10.1210/jc.2004-1947","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01274"">H01274</a>",IGF-I resistance,Growth delay due to IGF-I resistance is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR gene cause postnatal growth failure.,,"IGF1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3480"">3480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05087"">K05087</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564816"">C564816</a>
 OMIM: <a href=""https://www.omim.org/entry/270450"">270450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14657428"">14657428</a>
 著者        Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD
 タイトル      IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
 雑誌        N Engl J Med 349:2211-22 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa010107"">10.1056/NEJMoa010107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15928254"">15928254</a>
 著者        Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S
 タイトル      Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
 雑誌        J Clin Endocrinol Metab 90:4679-87 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-1947"">10.1210/jc.2004-1947</a>"
H01275,インターロイキン1レセプターアンタゴニスト欠損症,,,"Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement.",,,IL1RN [HSA:3557] [KO:K05481],,,,,,"MeSH: C557815
 OMIM: 612852","PMID:19494218
 著者        Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R
 タイトル      An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
 雑誌        N Engl J Med 360:2426-37 (2009)
 DOI:10.1056/NEJMoa0807865","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01275"">H01275</a>",インターロイキン1レセプターアンタゴニスト欠損症,"Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement.",,"IL1RN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3557"">3557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05481"">K05481</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C557815"">C557815</a>
 OMIM: <a href=""https://www.omim.org/entry/612852"">612852</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19494218"">19494218</a>
 著者        Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R
 タイトル      An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
 雑誌        N Engl J Med 360:2426-37 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0807865"">10.1056/NEJMoa0807865</a>"
H01276,慢性特発性偽性腸閉塞症,,,"Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.",消化器系疾患,,FLNA [HSA:2316] [KO:K04437],,,,,,"ICD-11: DA90.2
 ICD-10: K59.8
 MeSH: D007418
 OMIM: 300048","PMID:18494042
 著者        Antonucci A, Fronzoni L, Cogliandro L, Cogliandro RF, Caputo C, De Giorgio R, Pallotti F, Barbara G, Corinaldesi R, Stanghellini V
 タイトル      Chronic intestinal pseudo-obstruction.
 雑誌        World J Gastroenterol 14:2953-61 (2008)
 DOI:10.3748/wjg.14.2953
 PMID:17357080
 著者        Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
 タイトル      Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
 雑誌        Am J Hum Genet 80:751-8 (2007)
 DOI:10.1086/513321","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01276"">H01276</a>",慢性特発性偽性腸閉塞症,"Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.",,"FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: DA90.2
 ICD-10: K59.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007418"">D007418</a>
 OMIM: <a href=""https://www.omim.org/entry/300048"">300048</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18494042"">18494042</a>
 著者        Antonucci A, Fronzoni L, Cogliandro L, Cogliandro RF, Caputo C, De Giorgio R, Pallotti F, Barbara G, Corinaldesi R, Stanghellini V
 タイトル      Chronic intestinal pseudo-obstruction.
 雑誌        World J Gastroenterol 14:2953-61 (2008)
 DOI:<a href=""https://doi.org/10.3748/wjg.14.2953"">10.3748/wjg.14.2953</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17357080"">17357080</a>
 著者        Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
 タイトル      Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
 雑誌        Am J Hum Genet 80:751-8 (2007)
 DOI:<a href=""https://doi.org/10.1086/513321"">10.1086/513321</a>"
H01277,ビタミン B12 欠乏性貧血,,,"Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and neurological symptoms such as peripheral neuropathy, cognitive problems, and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal tubular reabsorption. Hereditary intrinsic factor deficiency (IFD) is a phenotype that is caused by mutations in GIF, the gene encoding intrinsic factor.",血液疾患,,"(IFD) GIF [HSA:2694] [KO:K14615]
 (IGS) CUBN [HSA:8029] [KO:K14616]
 (IGS) AMN [HSA:81693] [KO:K18259]",,,,,,"ICD-11: 3A01
 ICD-10: D51.0 D51.1
 OMIM: 261000 261100","PMID:15738392
 著者        Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A
 タイトル      Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
 雑誌        Proc Natl Acad Sci U S A 102:4130-3 (2005)
 DOI:10.1073/pnas.0500517102
 PMID:10080186
 著者        Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R
 タイトル      Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
 雑誌        Nat Genet 21:309-13 (1999)
 DOI:10.1038/6831
 PMID:12590260
 著者        Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A
 タイトル      Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
 雑誌        Nat Genet 33:426-9 (2003)
 DOI:10.1038/ng1098
 PMID:16722557
 著者        Grasbeck R
 タイトル      Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
 雑誌        Orphanet J Rare Dis 1:17 (2006)
 DOI:10.1186/1750-1172-1-17","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01277"">H01277</a>",ビタミン B12 欠乏性貧血,"Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and neurological symptoms such as peripheral neuropathy, cognitive problems, and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal tubular reabsorption. Hereditary intrinsic factor deficiency (IFD) is a phenotype that is caused by mutations in GIF, the gene encoding intrinsic factor.",,"(IFD) GIF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2694"">2694</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14615"">K14615</a>]
 (IGS) CUBN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8029"">8029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14616"">K14616</a>]
 (IGS) AMN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81693"">81693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18259"">K18259</a>]",,,,,,"ICD-11: 3A01
 ICD-10: D51.0 D51.1
 OMIM: <a href=""https://www.omim.org/entry/261000"">261000</a> <a href=""https://www.omim.org/entry/261100"">261100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15738392"">15738392</a>
 著者        Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A
 タイトル      Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
 雑誌        Proc Natl Acad Sci U S A 102:4130-3 (2005)
 DOI:<a href=""https://doi.org/10.1073/pnas.0500517102"">10.1073/pnas.0500517102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10080186"">10080186</a>
 著者        Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R
 タイトル      Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
 雑誌        Nat Genet 21:309-13 (1999)
 DOI:<a href=""https://doi.org/10.1038/6831"">10.1038/6831</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12590260"">12590260</a>
 著者        Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A
 タイトル      Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
 雑誌        Nat Genet 33:426-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1098"">10.1038/ng1098</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16722557"">16722557</a>
 著者        Grasbeck R
 タイトル      Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria).
 雑誌        Orphanet J Rare Dis 1:17 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-17"">10.1186/1750-1172-1-17</a>"
H01278,鉄剤不応性鉄欠乏性貧血,,,"Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin.",,,TMPRSS6 [HSA:164656] [KO:K09637],,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: 206200","PMID:18408718
 著者        Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD
 タイトル      Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
 雑誌        Nat Genet 40:569-71 (2008)
 DOI:10.1038/ng.130
 PMID:20704562
 著者        Altamura S, D'Alessio F, Selle B, Muckenthaler MU
 タイトル      A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
 雑誌        Biochem J 431:363-71 (2010)
 DOI:10.1042/BJ20100668","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01278"">H01278</a>",鉄剤不応性鉄欠乏性貧血,"Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin.",,"TMPRSS6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:164656"">164656</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09637"">K09637</a>]",,,,,,"ICD-11: 3A00.Y
 ICD-10: D50.8
 OMIM: <a href=""https://www.omim.org/entry/206200"">206200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18408718"">18408718</a>
 著者        Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD
 タイトル      Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
 雑誌        Nat Genet 40:569-71 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.130"">10.1038/ng.130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20704562"">20704562</a>
 著者        Altamura S, D'Alessio F, Selle B, Muckenthaler MU
 タイトル      A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
 雑誌        Biochem J 431:363-71 (2010)
 DOI:<a href=""https://doi.org/10.1042/BJ20100668"">10.1042/BJ20100668</a>"
H01279,イソブチリルCoA脱水素酵素欠損症,,,"Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",ACAD8 [HSA:27034] [KO:K11538],,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: C535541
 OMIM: 611283","PMID:12359132
 著者        Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J
 タイトル      Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
 雑誌        Mol Genet Metab 77:68-79 (2002)
 DOI:10.1016/S1096-7192(02)00152-X
 PMID:16857760
 著者        Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS
 タイトル      Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
 雑誌        Pediatr Res 60:315-20 (2006)
 DOI:10.1203/01.pdr.0000233085.72522.04","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01279"">H01279</a>",イソブチリルCoA脱水素酵素欠損症,"Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","ACAD8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27034"">27034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11538"">K11538</a>]",,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535541"">C535541</a>
 OMIM: <a href=""https://www.omim.org/entry/611283"">611283</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12359132"">12359132</a>
 著者        Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J
 タイトル      Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
 雑誌        Mol Genet Metab 77:68-79 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1096-7192(02)00152-X"">10.1016/S1096-7192(02)00152-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16857760"">16857760</a>
 著者        Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS
 タイトル      Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
 雑誌        Pediatr Res 60:315-20 (2006)
 DOI:<a href=""https://doi.org/10.1203/01.pdr.0000233085.72522.04"">10.1203/01.pdr.0000233085.72522.04</a>"
H01280,L-2-ヒドロキシグルタル酸尿症,,,"L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy.",先天性代謝異常症,,L2HGDH [HSA:79944] [KO:K00109],,,,,D-2-hydroxyglutaric aciduria is described in H01225. [DS:H01225],"ICD-11: 5C50.E1
 MeSH: C535306
 OMIM: 236792","PMID:15548604
 著者        Rzem R, Veiga-da-Cunha M, Noel G, Goffette S, Nassogne MC, Tabarki B, Scholler C, Marquardt T, Vikkula M, Van Schaftingen E
 タイトル      A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
 雑誌        Proc Natl Acad Sci U S A 101:16849-54 (2004)
 DOI:10.1073/pnas.0404840101
 PMID:15385440
 著者        Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J
 タイトル      L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
 雑誌        Hum Mol Genet 13:2803-11 (2004)
 DOI:10.1093/hmg/ddh300
 PMID:16134148
 著者        Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C
 タイトル      Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
 雑誌        Hum Mutat 26:395-6 (2005)
 DOI:10.1002/humu.9373","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01280"">H01280</a>",L-2-ヒドロキシグルタル酸尿症,"L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy.",,"L2HGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79944"">79944</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00109"">K00109</a>]",,,,,"D-2-hydroxyglutaric aciduria is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01225."">H01225.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01225"">H01225</a>]","ICD-11: 5C50.E1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535306"">C535306</a>
 OMIM: <a href=""https://www.omim.org/entry/236792"">236792</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15548604"">15548604</a>
 著者        Rzem R, Veiga-da-Cunha M, Noel G, Goffette S, Nassogne MC, Tabarki B, Scholler C, Marquardt T, Vikkula M, Van Schaftingen E
 タイトル      A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
 雑誌        Proc Natl Acad Sci U S A 101:16849-54 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0404840101"">10.1073/pnas.0404840101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15385440"">15385440</a>
 著者        Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J
 タイトル      L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
 雑誌        Hum Mol Genet 13:2803-11 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh300"">10.1093/hmg/ddh300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16134148"">16134148</a>
 著者        Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C
 タイトル      Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
 雑誌        Hum Mutat 26:395-6 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.9373"">10.1002/humu.9373</a>"
H01281,Lathosterolosis,,,"Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.",先天奇形,,SC5DL [HSA:6309] [KO:K00227],,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.8
 MeSH: C537880
 OMIM: 607330","PMID:12189593
 著者        Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G
 タイトル      Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
 雑誌        Am J Hum Genet 71:952-8 (2002)
 DOI:10.1086/342668
 PMID:12812989
 著者        Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD
 タイトル      Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
 雑誌        Hum Mol Genet 12:1631-41 (2003)
 DOI:10.1093/hmg/ddg172","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01281"">H01281</a>",Lathosterolosis,"Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.",,"SC5DL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6309"">6309</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00227"">K00227</a>]",,,,,,"ICD-11: 5C52.10
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537880"">C537880</a>
 OMIM: <a href=""https://www.omim.org/entry/607330"">607330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12189593"">12189593</a>
 著者        Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G
 タイトル      Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
 雑誌        Am J Hum Genet 71:952-8 (2002)
 DOI:<a href=""https://doi.org/10.1086/342668"">10.1086/342668</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12812989"">12812989</a>
 著者        Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD
 タイトル      Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
 雑誌        Hum Mol Genet 12:1631-41 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg172"">10.1093/hmg/ddg172</a>"
H01282,"精子形成異常
 下位グループ    頭部円形精子症 [DS:H01208]
 無精子症 [DS:H00890]
 Y-連鎖精子形成異常 [DS:H02534]",,,"Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis.",生殖系疾患,,"(SPGF1) SYCP2 [HSA:10388] [KO:K19529]
 (SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
 (SPGF4) SYCP3 [HSA:50511] [KO:K19528]
 (SPGF5) AURKC [HSA:6795] [KO:K11480]
 (SPGF6) SPATA16 [HSA:83893]
 (SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
 (SPGF8) NR5A1 [HSA:2516] [KO:K08560]
 (SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
 (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
 (SPGF11) KLHL10 [HSA:317719] [KO:K10448]
 (SPGF12) NANOS1 [HSA:340719] [KO:K18741]
 (SPGF13) TAF4B [HSA:6875] [KO:K03129]
 (SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
 (SPGF15) SYCE1 [HSA:93426] [KO:K19534]
 (SPGF16) SUN5 [HSA:140732] [KO:K21876]
 (SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
 (SPGF18) DNAH1 [HSA:25981] [KO:K10408]
 (SPGF19) CFAP43 [HSA:80217] [KO:K24223]
 (SPGF20) CFAP44 [HSA:55779] [KO:K24224]
 (SPGF21) BRDT [HSA:676] [KO:K11724]
 (SPGF22) MEIOB [HSA:254528] [KO:K22420]
 (SPGF23) TEX14 [HSA:56155] [KO:K17540]
 (SPGF24) CFAP69 [HSA:79846] [KO:K24227]
 (SPGF25) TEX15 [HSA:56154] [KO:K25680]
 (SPGF26) TSGA10 [HSA:80705] [KO:K25632]
 (SPGF27) AK7 [HSA:122481] [KO:K00939]
 (SPGF28) FANCM [HSA:57697] [KO:K10896]
 (SPGF29) SPINK2 [HSA:6691] [KO:K23418]
 (SPGF30) TDRD9 [HSA:122402] [KO:K18408]
 (SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
 (SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
 (SPGF33) CFAP251 [HSA:144406] [KO:K24228]
 (SPGF34) FSIP2 [HSA:401024]
 (SPGF35) QRICH2 [HSA:84074] [KO:K24298]
 (SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
 (SPGF37) TTC21A [HSA:199223] [KO:K24178]
 (SPGF38) ARMC2 [HSA:84071] [KO:K24123]
 (SPGF39) DNAH17 [HSA:8632] [KO:K10408]
 (SPGF40) CFAP65 [HSA:255101] [KO:K24226]
 (SPGF41) CFAP70 [HSA:118491] [KO:K24932]
 (SPGF42) TTC29 [HSA:83894] [KO:K24937]
 (SPGF43) SPEF2 [HSA:79925] [KO:K25615]
 (SPGF44) CEP112 [HSA:201134] [KO:K16767]
 (SPGF45) DNAH2 [HSA:146754] [KO:K10408]
 (SPGF46) DNAH8 [HSA:1769] [KO:K10408]
 (SPGF47) DZIP1 [HSA:22873] [KO:K16470]
 (SPGF48) M1AP [HSA:130951]
 (SPGF49) CFAP58 [HSA:159686] [KO:K25554]
 (SPGF50) XRCC2 [HSA:7516] [KO:K10879]
 (SPGF51) CFAP91 [HSA:89876] [KO:K25461]
 (SPGF52) C14orf39 [HSA:317761] [KO:K25705]
 (SPGF53) ACTL9 [HSA:284382]
 (SPGF54) CATIP [HSA:375307] [KO:K25788]
 (SPGF55) SPAG17 [HSA:200162] [KO:K25533]
 (SPGF56) DNAH10 [HSA:196385] [KO:K10408]
 (SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
 (SPGF58) IFT74 [HSA:80173] [KO:K19679]
 (SPGF59) TERB2 [HSA:145645] [KO:K25750]
 (SPGF60) TERB1 [HSA:283847] [KO:K25749]
 (SPGF61) STAG3 [HSA:10734] [KO:K13055]
 (SPGF62) RNF212 [HSA:285498] [KO:K25662]
 (SPGF63) RPL10L [HSA:140801] [KO:K02866]
 (SPGF64) FBXO43 [HSA:286151] [KO:K10318]
 (SPGF65) DNHD1 [HSA:144132]
 (SPGF66) ZPBP [HSA:11055] [KO:K25752]
 (SPGF67) CCDC62 [HSA:84660]
 (SPGF68) C2CD6 [HSA:151254] [KO:K25947]
 (SPGF69) GGN [HSA:199720]
 (SPGF70) PDHA2 [HSA:5161] [KO:K00161]
 (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
 (SPGFX2) TEX11 [HSA:56159] [KO:K24574]
 (SPGFX3) CFAP47 [HSA:286464] [KO:K25552]",,,,クロミフェンクエン酸塩 [DR:D00962],,"ICD-11: GB04.Y
 ICD-10: N46
 MeSH: C567832 C564030
 OMIM: 258150 606766 270960 243060 102530 612997 613957 613958 614822 615081 615413 615841 615842 616950 617187 617214 617576 617592 617593 617644 617706 617707 415000 309120 617959 617960 617961 617965 618086 618091 618110 618112 618115 618152 618153 618341 618420 618429 618433 618643 618664 618670 618745 618751 619044 619094 619095 619102 619108 619144 619177 619202 619258 301059 619379 619380 619145 619515 619528 619585 619645 619646 619672 619673 619689 619696 619712 619799 619803 619805 619826 619828 619831","PMID:22138898
 著者        Massart A, Lissens W, Tournaye H, Stouffs K
 タイトル      Genetic causes of spermatogenic failure.
 雑誌        Asian J Androl 14:40-8 (2012)
 DOI:10.1038/aja.2011.67
 PMID:31866047 (SYCP2)
 著者        Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tuttelmann F, MacQueen AJ, Morton CC
 タイトル      SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
 雑誌        Am J Hum Genet 106:41-57 (2020)
 DOI:10.1016/j.ajhg.2019.11.013
 PMID:23582645 (SLC26A8)
 著者        Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Toure A
 タイトル      Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
 雑誌        Am J Hum Genet 92:760-6 (2013)
 DOI:10.1016/j.ajhg.2013.03.016
 PMID:14643120 (SYCP3)
 著者        Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ
 タイトル      Azoospermia in patients heterozygous for a mutation in SYCP3.
 雑誌        Lancet 362:1714-9 (2003)
 DOI:10.1016/S0140-6736(03)14845-3
 PMID:21733974 (AURKC)
 著者        Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, Ray PF
 タイトル      A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
 雑誌        Mol Hum Reprod 17:762-8 (2011)
 DOI:10.1093/molehr/gar050
 PMID:17847006 (SPATA16)
 著者        Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S
 タイトル      Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
 雑誌        Am J Hum Genet 81:813-20 (2007)
 DOI:10.1086/521314
 PMID:19344877 (CATSPER1)
 著者        Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ
 タイトル      Human male infertility caused by mutations in the CATSPER1 channel protein.
 雑誌        Am J Hum Genet 84:505-10 (2009)
 DOI:10.1016/j.ajhg.2009.03.004
 PMID:20887963 (NR5A1)
 著者        Bashamboo A, Ferraz-de-Souza B, Lourenco D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K
 タイトル      Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
 雑誌        Am J Hum Genet 87:505-12 (2010)
 DOI:10.1016/j.ajhg.2010.09.009
 PMID:21397063 (DPY19L2)
 著者        Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S
 タイトル      DPY19L2 deletion as a major cause of globozoospermia.
 雑誌        Am J Hum Genet 88:344-50 (2011)
 DOI:10.1016/j.ajhg.2011.01.018
 PMID:22275165 (SEPTIN12)
 著者        Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL
 タイトル      SEPT12 mutations cause male infertility with defective sperm annulus.
 雑誌        Hum Mutat 33:710-9 (2012)
 DOI:10.1002/humu.22028
 PMID:17047026 (KLHL10)
 著者        Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM
 タイトル      Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization.
 雑誌        Hum Mol Genet 15:3411-9 (2006)
 DOI:10.1093/hmg/ddl417
 PMID:23315541 (NANOS1)
 著者        Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, Kotecki M, Pawelczyk L, Jaruzelska J
 タイトル      Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
 雑誌        J Med Genet 50:187-93 (2013)
 DOI:10.1136/jmedgenet-2012-101230
 PMID:24431330 (TAF4B ZMYND15)
 著者        Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A
 タイトル      Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
 雑誌        J Med Genet 51:239-44 (2014)
 DOI:10.1136/jmedgenet-2013-102102
 PMID:25899990 (SYCE1)
 著者        Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A
 タイトル      Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
 雑誌        J Assist Reprod Genet 32:887-91 (2015)
 DOI:10.1007/s10815-015-0445-y
 PMID:27640305 (SUN5)
 著者        Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang Z, He X, Zhou P, Wei Z, Gecz J, Cao Y
 タイトル      Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.
 雑誌        Am J Hum Genet 99:942-949 (2016)
 DOI:10.1016/j.ajhg.2016.08.004
 PMID:26721930 (PLCZ1)
 著者        Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzene T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C
 タイトル      Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
 雑誌        Hum Mol Genet 25:878-91 (2016)
 DOI:10.1093/hmg/ddv617
 PMID:27798045 (DNAH1)
 著者        Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF
 タイトル      Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
 雑誌        Hum Reprod 31:2872-2880 (2016)
 DOI:10.1093/humrep/dew262
 PMID:28552195 (CFAP43 CFAP44 CFAP65)
 著者        Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F
 タイトル      Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
 雑誌        Am J Hum Genet 100:854-864 (2017)
 DOI:10.1016/j.ajhg.2017.04.012
 PMID:28199965 (BRDT)
 著者        Li L, Sha Y, Wang X, Li P, Wang J, Kee K, Wang B
 タイトル      Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.
 雑誌        Oncotarget 8:19914-19922 (2017)
 DOI:10.18632/oncotarget.15251
 PMID:28206990 (MEIOB TEX14)
 著者        Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H, Pietrokovski S, Kleiman SE
 タイトル      A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.
 雑誌        Genet Med 19:998-1006 (2017)
 DOI:10.1038/gim.2016.225
 PMID:29606301 (CFAP69)
 著者        Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C
 タイトル      Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
 雑誌        Am J Hum Genet 102:636-648 (2018)
 DOI:10.1016/j.ajhg.2018.03.007
 PMID:26199321 (TEX15)
 著者        Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S
 タイトル      Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
 雑誌        Hum Mol Genet 24:5581-8 (2015)
 DOI:10.1093/hmg/ddv290
 PMID:28905369 (TSGA10)
 著者        Sha YW, Sha YK, Ji ZY, Mei LB, Ding L, Zhang Q, Qiu PP, Lin SB, Wang X, Li P, Xu X, Li L
 タイトル      TSGA10 is a novel candidate gene associated with acephalic spermatozoa.
 雑誌        Clin Genet 93:776-783 (2018)
 DOI:10.1111/cge.13140
 PMID:29365104 (AK7)
 著者        Lores P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Toure A
 タイトル      Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to  primary ciliary dyskinesia.
 雑誌        Hum Mol Genet 27:1196-1211 (2018)
 DOI:10.1093/hmg/ddy034
 PMID:30075111 (FANCM)
 著者        Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, Conrad DF, Laan M
 タイトル      Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
 雑誌        Am J Hum Genet 103:200-212 (2018)
 DOI:10.1016/j.ajhg.2018.07.005
 PMID:28554943 (SPINK2)
 著者        Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Faure J, Bottari SP, Coutton C, Ray PF, Arnoult C
 タイトル      SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
 雑誌        EMBO Mol Med 9:1132-1149 (2017)
 DOI:10.15252/emmm.201607461
 PMID:28536242 (TDRD9)
 著者        Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R
 タイトル      Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
 雑誌        J Med Genet 54:633-639 (2017)
 DOI:10.1136/jmedgenet-2017-104514
 PMID:30032984 (PMFBP1)
 著者        Zhu F, Liu C, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhang Z, Zhou P, Wei Z, Shang Y, Wang L, Zhang R, Ouyang YC, Sun QY, Cao Y, Li W
 タイトル      Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
 雑誌        Am J Hum Genet 103:188-199 (2018)
 DOI:10.1016/j.ajhg.2018.06.010
 PMID:20506135 (SOHLH1)
 著者        Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH
 タイトル      Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
 雑誌        Hum Mutat 31:788-93 (2010)
 DOI:10.1002/humu.21264
 PMID:30122540 (CFAP251)
 著者        Kherraf ZE, Amiri-Yekta A, Dacheux D, Karaouzene T, Coutton C, Christou-Kent M, Martinez G, Landrein N, Le Tanno P, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Gourabi H, Robinson DR, Crouzy S, Blum M, Thierry-Mieg N, Toure A, Zouari R, Arnoult C, Bonhivers M, Ray PF
 タイトル      A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
 雑誌        Am J Hum Genet 103:400-412 (2018)
 DOI:10.1016/j.ajhg.2018.07.014
 PMID:30137358 (FSIP2)
 著者        Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzene T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Toure A, Arnoult C, Ray PF, Coutton C
 タイトル      Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
 雑誌        Hum Reprod 33:1973-1984 (2018)
 DOI:10.1093/humrep/dey264
 PMID:30683861 (QRICH2)
 著者        Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W
 タイトル      Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
 雑誌        Nat Commun 10:433 (2019)
 DOI:10.1038/s41467-018-08182-x
 PMID:30893644 (PPP2R3C)
 著者        Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A
 タイトル      PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
 雑誌        Eur J Endocrinol 180:291-309 (2019)
 DOI:10.1530/EJE-19-0067
 PMID:30929735 (TTC21A)
 著者        Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F
 タイトル      Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
 雑誌        Am J Hum Genet 104:738-748 (2019)
 DOI:10.1016/j.ajhg.2019.02.020
 PMID:30686508 (ARMC2)
 著者        Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Toure A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF
 タイトル      Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
 雑誌        Am J Hum Genet 104:331-340 (2019)
 DOI:10.1016/j.ajhg.2018.12.013
 PMID:31178125 (DNAH17)
 著者        Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M
 タイトル      Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
 雑誌        Am J Hum Genet 105:198-212 (2019)
 DOI:10.1016/j.ajhg.2019.04.015
 PMID:31621862 (CFAP70)
 著者        Beurois J, Martinez G, Cazin C, Kherraf ZE, Amiri-Yekta A, Thierry-Mieg N, Bidart M, Petre G, Satre V, Brouillet S, Toure A, Arnoult C, Ray PF, Coutton C
 タイトル      CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
 雑誌        Hum Reprod 34:2071-2079 (2019)
 DOI:10.1093/humrep/dez166
 PMID:31735292 (TTC29)
 著者        Lores P, Dacheux D, Kherraf ZE, Nsota Mbango JF, Coutton C, Stouvenel L, Ialy-Radio C, Amiri-Yekta A, Whitfield M, Schmitt A, Cazin C, Givelet M, Ferreux L, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Daneshipour A, El Khouri E, Do Cruzeiro M, Favier M, Guillonneau F, Chaudhry M, Sakheli Z, Wolf JP, Patrat C, Gacon G, Savinov SN, Hosseini SH, Robinson DR, Zouari R, Ziyyat A, Arnoult C, Dulioust E, Bonhivers M, Ray PF, Toure A
 タイトル      Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
 雑誌        Am J Hum Genet 105:1148-1167 (2019)
 DOI:10.1016/j.ajhg.2019.10.007
 PMID:31048344 (SPEF2)
 著者        Liu C, Lv M, He X, Zhu Y, Amiri-Yekta A, Li W, Wu H, Kherraf ZE, Liu W, Zhang J, Tan Q, Tang S, Zhu YJ, Zhong Y, Li C, Tian S, Zhang Z, Jin L, Ray P, Zhang F, Cao Y
 タイトル      Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
 雑誌        J Med Genet 57:31-37 (2020)
 DOI:10.1136/jmedgenet-2019-106011
 PMID:31654588 (CEP112)
 著者        Sha Y, Wang X, Yuan J, Zhu X, Su Z, Zhang X, Xu X, Wei X
 タイトル      Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
 雑誌        Clin Genet 97:321-328 (2020)
 DOI:10.1111/cge.13662
 PMID:30811583 (DNAH2)
 著者        Li Y, Sha Y, Wang X, Ding L, Liu W, Ji Z, Mei L, Huang X, Lin S, Kong S, Lu J, Qin W, Zhang X, Zhuang J, Tang Y, Lu Z
 タイトル      DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
 雑誌        Clin Genet 95:590-600 (2019)
 DOI:10.1111/cge.13525
 PMID:32619401 (DNAH8)
 著者        Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Toure A, Zhang F, Ikawa M
 タイトル      Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
 雑誌        Am J Hum Genet 107:330-341 (2020)
 DOI:10.1016/j.ajhg.2020.06.004
 PMID:32051257 (DZIP1)
 著者        Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y
 タイトル      Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
 雑誌        J Med Genet 57:445-453 (2020)
 DOI:10.1136/jmedgenet-2019-106479
 PMID:32673564 (M1AP)
 著者        Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Woste M, Ledig S, Krenz H, Smits RM, Carvalho F, Goncalves J, Fietz D, Turkgenc B, Ergoren MC, Cetinkaya M, Basar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Ropke A, Dugas M, Kliesch S, Neuhaus N, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tuttelmann F
 タイトル      Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
 雑誌        Am J Hum Genet 107:342-351 (2020)
 DOI:10.1016/j.ajhg.2020.06.010
 PMID:32791035 (CFAP58)
 著者        He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y
 タイトル      Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
 雑誌        Am J Hum Genet 107:514-526 (2020)
 DOI:10.1016/j.ajhg.2020.07.010
 PMID:30042186 (XRCC2)
 著者        Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, Chen W, Liang D, He J, Tu M, Wang K, Wu L
 タイトル      XRCC2 mutation causes meiotic arrest, azoospermia and infertility.
 雑誌        J Med Genet 55:628-636 (2018)
 DOI:10.1136/jmedgenet-2017-105145
 PMID:32161152 (CFAP91)
 著者        Martinez G, Beurois J, Dacheux D, Cazin C, Bidart M, Kherraf ZE, Robinson DR, Satre V, Le Gac G, Ka C, Gourlaouen I, Fichou Y, Petre G, Dulioust E, Zouari R, Thierry-Mieg N, Toure A, Arnoult C, Bonhivers M, Ray P, Coutton C
 タイトル      Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male  infertility.
 雑誌        J Med Genet 57:708-716 (2020)
 DOI:10.1136/jmedgenet-2019-106775
 PMID:33508233 (C14orf39)
 著者        Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q
 タイトル      Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
 雑誌        Am J Hum Genet 108:324-336 (2021)
 DOI:10.1016/j.ajhg.2021.01.010
 PMID:33626338 (ACTL9)
 著者        Dai J, Zhang T, Guo J, Zhou Q, Gu Y, Zhang J, Hu L, Zong Y, Song J, Zhang S, Dai C, Gong F, Lu G, Zheng W, Lin G
 タイトル      Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
 雑誌        Am J Hum Genet 108:469-481 (2021)
 DOI:10.1016/j.ajhg.2021.02.004
 PMID:32503832 (CATIP)
 著者        Arafat M, Harlev A, Har-Vardi I, Levitas E, Priel T, Gershoni M, Searby C, Sheffield VC, Lunenfeld E, Parvari R
 タイトル      Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.
 雑誌        J Med Genet jmedgenet-2019-106825 (2020)
 DOI:10.1136/jmedgenet-2019-106825
 PMID:29690537 (SPAG17)
 著者        Kazarian E, Son H, Sapao P, Li W, Zhang Z, Strauss JF, Teves ME
 タイトル      SPAG17 Is Required for Male Germ Cell Differentiation and Fertility.
 雑誌        Int J Mol Sci 19:E1252 (2018)
 DOI:10.3390/ijms19041252
 PMID:34237282 (DNAH10)
 著者        Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ
 タイトル      Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
 雑誌        Am J Hum Genet 108:1466-1477 (2021)
 DOI:10.1016/j.ajhg.2021.06.010
 PMID:34347949 (PNLDC1)
 著者        Nagirnaja L, Morup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jorgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K
 タイトル      Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
 雑誌        N Engl J Med 385:707-719 (2021)
 DOI:10.1056/NEJMoa2028973
 PMID:33689014 (IFT74)
 著者        Lores P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Toure A
 タイトル      A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
 雑誌        Hum Genet 140:1031-1043 (2021)
 DOI:10.1007/s00439-021-02270-7
 PMID:33211200 (TERB2)
 著者        Salas-Huetos A, Tuttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Woste M, Hotaling JM, Nagirnaja L, Conrad DF, Carrell DT, Aston KI
 タイトル      Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
 雑誌        Hum Genet 140:217-227 (2021)
 DOI:10.1007/s00439-020-02236-1
 PMID:32741963 (TERB1)
 著者        Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castane E, Aston KI, Baarends WM, Tuttelmann F
 タイトル      Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
 雑誌        Genet Med 22:1956-1966 (2020)
 DOI:10.1038/s41436-020-0907-1
 PMID:31125047 (STAG3 RNF212)
 著者        Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castane E, Maggi M, Baarends WM, Krausz C
 タイトル      Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
 雑誌        Hum Reprod 34:978-988 (2019)
 DOI:10.1093/humrep/dez042
 PMID:32111475 (RPL10L)
 著者        Tu C, Meng L, Nie H, Yuan S, Wang W, Du J, Lu G, Lin G, Tan YQ
 タイトル      A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.
 雑誌        Fertil Steril 113:561-568 (2020)
 DOI:10.1016/j.fertnstert.2019.10.029
 PMID:30878252 (FBXO43)
 著者        Ma Y, Xie N, Xie D, Sun L, Li S, Li P, Li Y, Li J, Dong Z, Xie X
 タイトル      A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family.
 雑誌        Fertil Steril 111:909-917.e1 (2019)
 DOI:10.1016/j.fertnstert.2019.01.007
 PMID:34932939 (DNHD1)
 著者        Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
 タイトル      Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
 雑誌        Am J Hum Genet 109:157-171 (2022)
 DOI:10.1016/j.ajhg.2021.11.022
 PMID:31985809 (ZPBP CCDC62 C2CD6)
 著者        Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
 タイトル      Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
 雑誌        Hum Reprod 35:240-252 (2020)
 DOI:10.1093/humrep/dez246
 PMID:25970010 (TEX11)
 著者        Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olszewska M, Westernstroer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tuttelmann F
 タイトル      X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
 雑誌        N Engl J Med 372:2097-107 (2015)
 DOI:10.1056/NEJMoa1406192
 PMID:33472045 (CFAP47)
 著者        Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Toure A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
 タイトル      Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
 雑誌        Am J Hum Genet 108:309-323 (2021)
 DOI:10.1016/j.ajhg.2021.01.002
 PMID:33108537 (GGN)
 著者        Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF
 タイトル      Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
 雑誌        Hum Genet 140:43-57 (2021)
 DOI:10.1007/s00439-020-02229-0
 PMID:29581481 (PDHA2)
 著者        Yildirim Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A
 タイトル      Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
 雑誌        Eur J Hum Genet 26:876-885 (2018)
 DOI:10.1038/s41431-018-0121-7
 PMID:33713115 (ZSWIM7)
 著者        Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X, Shi Q
 タイトル      A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
 雑誌        Hum Reprod 36:1436-1445 (2021)
 DOI:10.1093/humrep/deab046","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01282"">H01282</a>","精子形成異常
 下位グループ    頭部円形精子症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01208"">H01208</a>]
 無精子症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00890"">H00890</a>]
 Y-連鎖精子形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02534"">H02534</a>]","Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis.",,"(SPGF1) SYCP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10388"">10388</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19529"">K19529</a>]
 (SPGF3) SLC26A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116369"">116369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14705"">K14705</a>]
 (SPGF4) SYCP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50511"">50511</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19528"">K19528</a>]
 (SPGF5) AURKC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6795"">6795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11480"">K11480</a>]
 (SPGF6) SPATA16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83893"">83893</a>]
 (SPGF7) CATSPER1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117144"">117144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16889"">K16889</a>]
 (SPGF8) NR5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2516"">2516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08560"">K08560</a>]
 (SPGF9) DPY19L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283417"">283417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24553"">K24553</a>]
 (SPGF10) SEPTIN12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124404"">124404</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16938"">K16938</a>]
 (SPGF11) KLHL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:317719"">317719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10448"">K10448</a>]
 (SPGF12) NANOS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340719"">340719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18741"">K18741</a>]
 (SPGF13) TAF4B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6875"">6875</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03129"">K03129</a>]
 (SPGF14) ZMYND15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84225"">84225</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24081"">K24081</a>]
 (SPGF15) SYCE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93426"">93426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19534"">K19534</a>]
 (SPGF16) SUN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:140732"">140732</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21876"">K21876</a>]
 (SPGF17) PLCZ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89869"">89869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05861"">K05861</a>]
 (SPGF18) DNAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25981"">25981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (SPGF19) CFAP43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80217"">80217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24223"">K24223</a>]
 (SPGF20) CFAP44 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55779"">55779</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24224"">K24224</a>]
 (SPGF21) BRDT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:676"">676</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11724"">K11724</a>]
 (SPGF22) MEIOB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:254528"">254528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22420"">K22420</a>]
 (SPGF23) TEX14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56155"">56155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17540"">K17540</a>]
 (SPGF24) CFAP69 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79846"">79846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24227"">K24227</a>]
 (SPGF25) TEX15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56154"">56154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25680"">K25680</a>]
 (SPGF26) TSGA10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80705"">80705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25632"">K25632</a>]
 (SPGF27) AK7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:122481"">122481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00939"">K00939</a>]
 (SPGF28) FANCM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57697"">57697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10896"">K10896</a>]
 (SPGF29) SPINK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6691"">6691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23418"">K23418</a>]
 (SPGF30) TDRD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:122402"">122402</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18408"">K18408</a>]
 (SPGF31) PMFBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83449"">83449</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23223"">K23223</a>]
 (SPGF32) SOHLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:402381"">402381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22495"">K22495</a>]
 (SPGF33) CFAP251 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:144406"">144406</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24228"">K24228</a>]
 (SPGF34) FSIP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:401024"">401024</a>]
 (SPGF35) QRICH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84074"">84074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24298"">K24298</a>]
 (SPGF36) PPP2R3C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55012"">55012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11583"">K11583</a>]
 (SPGF37) TTC21A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199223"">199223</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24178"">K24178</a>]
 (SPGF38) ARMC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84071"">84071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24123"">K24123</a>]
 (SPGF39) DNAH17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8632"">8632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (SPGF40) CFAP65 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:255101"">255101</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24226"">K24226</a>]
 (SPGF41) CFAP70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:118491"">118491</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24932"">K24932</a>]
 (SPGF42) TTC29 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83894"">83894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24937"">K24937</a>]
 (SPGF43) SPEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79925"">79925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25615"">K25615</a>]
 (SPGF44) CEP112 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201134"">201134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16767"">K16767</a>]
 (SPGF45) DNAH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:146754"">146754</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (SPGF46) DNAH8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1769"">1769</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (SPGF47) DZIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22873"">22873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16470"">K16470</a>]
 (SPGF48) M1AP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:130951"">130951</a>]
 (SPGF49) CFAP58 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:159686"">159686</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25554"">K25554</a>]
 (SPGF50) XRCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7516"">7516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10879"">K10879</a>]
 (SPGF51) CFAP91 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89876"">89876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25461"">K25461</a>]
 (SPGF52) C14orf39 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:317761"">317761</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25705"">K25705</a>]
 (SPGF53) ACTL9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284382"">284382</a>]
 (SPGF54) CATIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375307"">375307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25788"">K25788</a>]
 (SPGF55) SPAG17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200162"">200162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25533"">K25533</a>]
 (SPGF56) DNAH10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:196385"">196385</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10408"">K10408</a>]
 (SPGF57) PNLDC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154197"">154197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01148"">K01148</a>]
 (SPGF58) IFT74 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80173"">80173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19679"">K19679</a>]
 (SPGF59) TERB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:145645"">145645</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25750"">K25750</a>]
 (SPGF60) TERB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283847"">283847</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25749"">K25749</a>]
 (SPGF61) STAG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10734"">10734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13055"">K13055</a>]
 (SPGF62) RNF212 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285498"">285498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25662"">K25662</a>]
 (SPGF63) RPL10L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:140801"">140801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02866"">K02866</a>]
 (SPGF64) FBXO43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286151"">286151</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10318"">K10318</a>]
 (SPGF65) DNHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:144132"">144132</a>]
 (SPGF66) ZPBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11055"">11055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25752"">K25752</a>]
 (SPGF67) CCDC62 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84660"">84660</a>]
 (SPGF68) C2CD6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:151254"">151254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25947"">K25947</a>]
 (SPGF69) GGN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199720"">199720</a>]
 (SPGF70) PDHA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5161"">5161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00161"">K00161</a>]
 (SPGF71) ZSWIM7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:125150"">125150</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25770"">K25770</a>]
 (SPGFX2) TEX11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56159"">56159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24574"">K24574</a>]
 (SPGFX3) CFAP47 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286464"">286464</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25552"">K25552</a>]",,,,"クロミフェンクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00962"">D00962</a>]",,"ICD-11: GB04.Y
 ICD-10: N46
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567832"">C567832</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564030"">C564030</a>
 OMIM: <a href=""https://www.omim.org/entry/258150"">258150</a> <a href=""https://www.omim.org/entry/606766"">606766</a> <a href=""https://www.omim.org/entry/270960"">270960</a> <a href=""https://www.omim.org/entry/243060"">243060</a> <a href=""https://www.omim.org/entry/102530"">102530</a> <a href=""https://www.omim.org/entry/612997"">612997</a> <a href=""https://www.omim.org/entry/613957"">613957</a> <a href=""https://www.omim.org/entry/613958"">613958</a> <a href=""https://www.omim.org/entry/614822"">614822</a> <a href=""https://www.omim.org/entry/615081"">615081</a> <a href=""https://www.omim.org/entry/615413"">615413</a> <a href=""https://www.omim.org/entry/615841"">615841</a> <a href=""https://www.omim.org/entry/615842"">615842</a> <a href=""https://www.omim.org/entry/616950"">616950</a> <a href=""https://www.omim.org/entry/617187"">617187</a> <a href=""https://www.omim.org/entry/617214"">617214</a> <a href=""https://www.omim.org/entry/617576"">617576</a> <a href=""https://www.omim.org/entry/617592"">617592</a> <a href=""https://www.omim.org/entry/617593"">617593</a> <a href=""https://www.omim.org/entry/617644"">617644</a> <a href=""https://www.omim.org/entry/617706"">617706</a> <a href=""https://www.omim.org/entry/617707"">617707</a> <a href=""https://www.omim.org/entry/415000"">415000</a> <a href=""https://www.omim.org/entry/309120"">309120</a> <a href=""https://www.omim.org/entry/617959"">617959</a> <a href=""https://www.omim.org/entry/617960"">617960</a> <a href=""https://www.omim.org/entry/617961"">617961</a> <a href=""https://www.omim.org/entry/617965"">617965</a> <a href=""https://www.omim.org/entry/618086"">618086</a> <a href=""https://www.omim.org/entry/618091"">618091</a> <a href=""https://www.omim.org/entry/618110"">618110</a> <a href=""https://www.omim.org/entry/618112"">618112</a> <a href=""https://www.omim.org/entry/618115"">618115</a> <a href=""https://www.omim.org/entry/618152"">618152</a> <a href=""https://www.omim.org/entry/618153"">618153</a> <a href=""https://www.omim.org/entry/618341"">618341</a> <a href=""https://www.omim.org/entry/618420"">618420</a> <a href=""https://www.omim.org/entry/618429"">618429</a> <a href=""https://www.omim.org/entry/618433"">618433</a> <a href=""https://www.omim.org/entry/618643"">618643</a> <a href=""https://www.omim.org/entry/618664"">618664</a> <a href=""https://www.omim.org/entry/618670"">618670</a> <a href=""https://www.omim.org/entry/618745"">618745</a> <a href=""https://www.omim.org/entry/618751"">618751</a> <a href=""https://www.omim.org/entry/619044"">619044</a> <a href=""https://www.omim.org/entry/619094"">619094</a> <a href=""https://www.omim.org/entry/619095"">619095</a> <a href=""https://www.omim.org/entry/619102"">619102</a> <a href=""https://www.omim.org/entry/619108"">619108</a> <a href=""https://www.omim.org/entry/619144"">619144</a> <a href=""https://www.omim.org/entry/619177"">619177</a> <a href=""https://www.omim.org/entry/619202"">619202</a> <a href=""https://www.omim.org/entry/619258"">619258</a> <a href=""https://www.omim.org/entry/301059"">301059</a> <a href=""https://www.omim.org/entry/619379"">619379</a> <a href=""https://www.omim.org/entry/619380"">619380</a> <a href=""https://www.omim.org/entry/619145"">619145</a> <a href=""https://www.omim.org/entry/619515"">619515</a> <a href=""https://www.omim.org/entry/619528"">619528</a> <a href=""https://www.omim.org/entry/619585"">619585</a> <a href=""https://www.omim.org/entry/619645"">619645</a> <a href=""https://www.omim.org/entry/619646"">619646</a> <a href=""https://www.omim.org/entry/619672"">619672</a> <a href=""https://www.omim.org/entry/619673"">619673</a> <a href=""https://www.omim.org/entry/619689"">619689</a> <a href=""https://www.omim.org/entry/619696"">619696</a> <a href=""https://www.omim.org/entry/619712"">619712</a> <a href=""https://www.omim.org/entry/619799"">619799</a> <a href=""https://www.omim.org/entry/619803"">619803</a> <a href=""https://www.omim.org/entry/619805"">619805</a> <a href=""https://www.omim.org/entry/619826"">619826</a> <a href=""https://www.omim.org/entry/619828"">619828</a> <a href=""https://www.omim.org/entry/619831"">619831</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22138898"">22138898</a>
 著者        Massart A, Lissens W, Tournaye H, Stouffs K
 タイトル      Genetic causes of spermatogenic failure.
 雑誌        Asian J Androl 14:40-8 (2012)
 DOI:<a href=""https://doi.org/10.1038/aja.2011.67"">10.1038/aja.2011.67</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31866047"">31866047</a> (SYCP2)
 著者        Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tuttelmann F, MacQueen AJ, Morton CC
 タイトル      SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
 雑誌        Am J Hum Genet 106:41-57 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.11.013"">10.1016/j.ajhg.2019.11.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23582645"">23582645</a> (SLC26A8)
 著者        Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Toure A
 タイトル      Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
 雑誌        Am J Hum Genet 92:760-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.016"">10.1016/j.ajhg.2013.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14643120"">14643120</a> (SYCP3)
 著者        Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ
 タイトル      Azoospermia in patients heterozygous for a mutation in SYCP3.
 雑誌        Lancet 362:1714-9 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14845-3"">10.1016/S0140-6736(03)14845-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21733974"">21733974</a> (AURKC)
 著者        Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, Ray PF
 タイトル      A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
 雑誌        Mol Hum Reprod 17:762-8 (2011)
 DOI:<a href=""https://doi.org/10.1093/molehr/gar050"">10.1093/molehr/gar050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17847006"">17847006</a> (SPATA16)
 著者        Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S
 タイトル      Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
 雑誌        Am J Hum Genet 81:813-20 (2007)
 DOI:<a href=""https://doi.org/10.1086/521314"">10.1086/521314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19344877"">19344877</a> (CATSPER1)
 著者        Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ
 タイトル      Human male infertility caused by mutations in the CATSPER1 channel protein.
 雑誌        Am J Hum Genet 84:505-10 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.03.004"">10.1016/j.ajhg.2009.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20887963"">20887963</a> (NR5A1)
 著者        Bashamboo A, Ferraz-de-Souza B, Lourenco D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K
 タイトル      Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
 雑誌        Am J Hum Genet 87:505-12 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.009"">10.1016/j.ajhg.2010.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21397063"">21397063</a> (DPY19L2)
 著者        Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S
 タイトル      DPY19L2 deletion as a major cause of globozoospermia.
 雑誌        Am J Hum Genet 88:344-50 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.01.018"">10.1016/j.ajhg.2011.01.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22275165"">22275165</a> (SEPTIN12)
 著者        Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL
 タイトル      SEPT12 mutations cause male infertility with defective sperm annulus.
 雑誌        Hum Mutat 33:710-9 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22028"">10.1002/humu.22028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17047026"">17047026</a> (KLHL10)
 著者        Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM
 タイトル      Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization.
 雑誌        Hum Mol Genet 15:3411-9 (2006)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl417"">10.1093/hmg/ddl417</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23315541"">23315541</a> (NANOS1)
 著者        Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, Kotecki M, Pawelczyk L, Jaruzelska J
 タイトル      Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
 雑誌        J Med Genet 50:187-93 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101230"">10.1136/jmedgenet-2012-101230</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24431330"">24431330</a> (TAF4B <a href=""https://pubmed.ncbi.nlm.nih.gov/ZMYND15)"">ZMYND15)</a>
 著者        Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A
 タイトル      Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
 雑誌        J Med Genet 51:239-44 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102102"">10.1136/jmedgenet-2013-102102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25899990"">25899990</a> (SYCE1)
 著者        Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A
 タイトル      Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
 雑誌        J Assist Reprod Genet 32:887-91 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10815-015-0445-y"">10.1007/s10815-015-0445-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27640305"">27640305</a> (SUN5)
 著者        Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang Z, He X, Zhou P, Wei Z, Gecz J, Cao Y
 タイトル      Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.
 雑誌        Am J Hum Genet 99:942-949 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.004"">10.1016/j.ajhg.2016.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26721930"">26721930</a> (PLCZ1)
 著者        Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzene T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C
 タイトル      Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
 雑誌        Hum Mol Genet 25:878-91 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv617"">10.1093/hmg/ddv617</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27798045"">27798045</a> (DNAH1)
 著者        Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF
 タイトル      Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
 雑誌        Hum Reprod 31:2872-2880 (2016)
 DOI:<a href=""https://doi.org/10.1093/humrep/dew262"">10.1093/humrep/dew262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28552195"">28552195</a> (CFAP43 <a href=""https://pubmed.ncbi.nlm.nih.gov/CFAP44"">CFAP44</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CFAP65)"">CFAP65)</a>
 著者        Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F
 タイトル      Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
 雑誌        Am J Hum Genet 100:854-864 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.04.012"">10.1016/j.ajhg.2017.04.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28199965"">28199965</a> (BRDT)
 著者        Li L, Sha Y, Wang X, Li P, Wang J, Kee K, Wang B
 タイトル      Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.
 雑誌        Oncotarget 8:19914-19922 (2017)
 DOI:<a href=""https://doi.org/10.18632/oncotarget.15251"">10.18632/oncotarget.15251</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28206990"">28206990</a> (MEIOB <a href=""https://pubmed.ncbi.nlm.nih.gov/TEX14)"">TEX14)</a>
 著者        Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H, Pietrokovski S, Kleiman SE
 タイトル      A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.
 雑誌        Genet Med 19:998-1006 (2017)
 DOI:<a href=""https://doi.org/10.1038/gim.2016.225"">10.1038/gim.2016.225</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29606301"">29606301</a> (CFAP69)
 著者        Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C
 タイトル      Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
 雑誌        Am J Hum Genet 102:636-648 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.03.007"">10.1016/j.ajhg.2018.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26199321"">26199321</a> (TEX15)
 著者        Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S
 タイトル      Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
 雑誌        Hum Mol Genet 24:5581-8 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv290"">10.1093/hmg/ddv290</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28905369"">28905369</a> (TSGA10)
 著者        Sha YW, Sha YK, Ji ZY, Mei LB, Ding L, Zhang Q, Qiu PP, Lin SB, Wang X, Li P, Xu X, Li L
 タイトル      TSGA10 is a novel candidate gene associated with acephalic spermatozoa.
 雑誌        Clin Genet 93:776-783 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13140"">10.1111/cge.13140</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29365104"">29365104</a> (AK7)
 著者        Lores P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Toure A
 タイトル      Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to  primary ciliary dyskinesia.
 雑誌        Hum Mol Genet 27:1196-1211 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy034"">10.1093/hmg/ddy034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30075111"">30075111</a> (FANCM)
 著者        Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, Conrad DF, Laan M
 タイトル      Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
 雑誌        Am J Hum Genet 103:200-212 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.07.005"">10.1016/j.ajhg.2018.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28554943"">28554943</a> (SPINK2)
 著者        Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Faure J, Bottari SP, Coutton C, Ray PF, Arnoult C
 タイトル      SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
 雑誌        EMBO Mol Med 9:1132-1149 (2017)
 DOI:<a href=""https://doi.org/10.15252/emmm.201607461"">10.15252/emmm.201607461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28536242"">28536242</a> (TDRD9)
 著者        Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R
 タイトル      Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
 雑誌        J Med Genet 54:633-639 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104514"">10.1136/jmedgenet-2017-104514</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30032984"">30032984</a> (PMFBP1)
 著者        Zhu F, Liu C, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhang Z, Zhou P, Wei Z, Shang Y, Wang L, Zhang R, Ouyang YC, Sun QY, Cao Y, Li W
 タイトル      Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
 雑誌        Am J Hum Genet 103:188-199 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.06.010"">10.1016/j.ajhg.2018.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20506135"">20506135</a> (SOHLH1)
 著者        Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH
 タイトル      Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
 雑誌        Hum Mutat 31:788-93 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21264"">10.1002/humu.21264</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30122540"">30122540</a> (CFAP251)
 著者        Kherraf ZE, Amiri-Yekta A, Dacheux D, Karaouzene T, Coutton C, Christou-Kent M, Martinez G, Landrein N, Le Tanno P, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Gourabi H, Robinson DR, Crouzy S, Blum M, Thierry-Mieg N, Toure A, Zouari R, Arnoult C, Bonhivers M, Ray PF
 タイトル      A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
 雑誌        Am J Hum Genet 103:400-412 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.07.014"">10.1016/j.ajhg.2018.07.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30137358"">30137358</a> (FSIP2)
 著者        Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzene T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Toure A, Arnoult C, Ray PF, Coutton C
 タイトル      Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
 雑誌        Hum Reprod 33:1973-1984 (2018)
 DOI:<a href=""https://doi.org/10.1093/humrep/dey264"">10.1093/humrep/dey264</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30683861"">30683861</a> (QRICH2)
 著者        Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W
 タイトル      Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
 雑誌        Nat Commun 10:433 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-018-08182-x"">10.1038/s41467-018-08182-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30893644"">30893644</a> (PPP2R3C)
 著者        Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A
 タイトル      PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.
 雑誌        Eur J Endocrinol 180:291-309 (2019)
 DOI:<a href=""https://doi.org/10.1530/EJE-19-0067"">10.1530/EJE-19-0067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30929735"">30929735</a> (TTC21A)
 著者        Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F
 タイトル      Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
 雑誌        Am J Hum Genet 104:738-748 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.020"">10.1016/j.ajhg.2019.02.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30686508"">30686508</a> (ARMC2)
 著者        Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Toure A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF
 タイトル      Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
 雑誌        Am J Hum Genet 104:331-340 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.013"">10.1016/j.ajhg.2018.12.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31178125"">31178125</a> (DNAH17)
 著者        Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M
 タイトル      Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
 雑誌        Am J Hum Genet 105:198-212 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.04.015"">10.1016/j.ajhg.2019.04.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31621862"">31621862</a> (CFAP70)
 著者        Beurois J, Martinez G, Cazin C, Kherraf ZE, Amiri-Yekta A, Thierry-Mieg N, Bidart M, Petre G, Satre V, Brouillet S, Toure A, Arnoult C, Ray PF, Coutton C
 タイトル      CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
 雑誌        Hum Reprod 34:2071-2079 (2019)
 DOI:<a href=""https://doi.org/10.1093/humrep/dez166"">10.1093/humrep/dez166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31735292"">31735292</a> (TTC29)
 著者        Lores P, Dacheux D, Kherraf ZE, Nsota Mbango JF, Coutton C, Stouvenel L, Ialy-Radio C, Amiri-Yekta A, Whitfield M, Schmitt A, Cazin C, Givelet M, Ferreux L, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Daneshipour A, El Khouri E, Do Cruzeiro M, Favier M, Guillonneau F, Chaudhry M, Sakheli Z, Wolf JP, Patrat C, Gacon G, Savinov SN, Hosseini SH, Robinson DR, Zouari R, Ziyyat A, Arnoult C, Dulioust E, Bonhivers M, Ray PF, Toure A
 タイトル      Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
 雑誌        Am J Hum Genet 105:1148-1167 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.10.007"">10.1016/j.ajhg.2019.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31048344"">31048344</a> (SPEF2)
 著者        Liu C, Lv M, He X, Zhu Y, Amiri-Yekta A, Li W, Wu H, Kherraf ZE, Liu W, Zhang J, Tan Q, Tang S, Zhu YJ, Zhong Y, Li C, Tian S, Zhang Z, Jin L, Ray P, Zhang F, Cao Y
 タイトル      Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
 雑誌        J Med Genet 57:31-37 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106011"">10.1136/jmedgenet-2019-106011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31654588"">31654588</a> (CEP112)
 著者        Sha Y, Wang X, Yuan J, Zhu X, Su Z, Zhang X, Xu X, Wei X
 タイトル      Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
 雑誌        Clin Genet 97:321-328 (2020)
 DOI:<a href=""https://doi.org/10.1111/cge.13662"">10.1111/cge.13662</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30811583"">30811583</a> (DNAH2)
 著者        Li Y, Sha Y, Wang X, Ding L, Liu W, Ji Z, Mei L, Huang X, Lin S, Kong S, Lu J, Qin W, Zhang X, Zhuang J, Tang Y, Lu Z
 タイトル      DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
 雑誌        Clin Genet 95:590-600 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13525"">10.1111/cge.13525</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32619401"">32619401</a> (DNAH8)
 著者        Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Toure A, Zhang F, Ikawa M
 タイトル      Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
 雑誌        Am J Hum Genet 107:330-341 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.004"">10.1016/j.ajhg.2020.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32051257"">32051257</a> (DZIP1)
 著者        Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y
 タイトル      Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
 雑誌        J Med Genet 57:445-453 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106479"">10.1136/jmedgenet-2019-106479</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32673564"">32673564</a> (M1AP)
 著者        Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Woste M, Ledig S, Krenz H, Smits RM, Carvalho F, Goncalves J, Fietz D, Turkgenc B, Ergoren MC, Cetinkaya M, Basar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Ropke A, Dugas M, Kliesch S, Neuhaus N, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tuttelmann F
 タイトル      Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
 雑誌        Am J Hum Genet 107:342-351 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.010"">10.1016/j.ajhg.2020.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32791035"">32791035</a> (CFAP58)
 著者        He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y
 タイトル      Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
 雑誌        Am J Hum Genet 107:514-526 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.07.010"">10.1016/j.ajhg.2020.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30042186"">30042186</a> (XRCC2)
 著者        Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, Chen W, Liang D, He J, Tu M, Wang K, Wu L
 タイトル      XRCC2 mutation causes meiotic arrest, azoospermia and infertility.
 雑誌        J Med Genet 55:628-636 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-105145"">10.1136/jmedgenet-2017-105145</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32161152"">32161152</a> (CFAP91)
 著者        Martinez G, Beurois J, Dacheux D, Cazin C, Bidart M, Kherraf ZE, Robinson DR, Satre V, Le Gac G, Ka C, Gourlaouen I, Fichou Y, Petre G, Dulioust E, Zouari R, Thierry-Mieg N, Toure A, Arnoult C, Bonhivers M, Ray P, Coutton C
 タイトル      Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male  infertility.
 雑誌        J Med Genet 57:708-716 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106775"">10.1136/jmedgenet-2019-106775</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33508233"">33508233</a> (C14orf39)
 著者        Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q
 タイトル      Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
 雑誌        Am J Hum Genet 108:324-336 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.01.010"">10.1016/j.ajhg.2021.01.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33626338"">33626338</a> (ACTL9)
 著者        Dai J, Zhang T, Guo J, Zhou Q, Gu Y, Zhang J, Hu L, Zong Y, Song J, Zhang S, Dai C, Gong F, Lu G, Zheng W, Lin G
 タイトル      Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
 雑誌        Am J Hum Genet 108:469-481 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.02.004"">10.1016/j.ajhg.2021.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32503832"">32503832</a> (CATIP)
 著者        Arafat M, Harlev A, Har-Vardi I, Levitas E, Priel T, Gershoni M, Searby C, Sheffield VC, Lunenfeld E, Parvari R
 タイトル      Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.
 雑誌        J Med Genet jmedgenet-2019-106825 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106825"">10.1136/jmedgenet-2019-106825</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29690537"">29690537</a> (SPAG17)
 著者        Kazarian E, Son H, Sapao P, Li W, Zhang Z, Strauss JF, Teves ME
 タイトル      SPAG17 Is Required for Male Germ Cell Differentiation and Fertility.
 雑誌        Int J Mol Sci 19:E1252 (2018)
 DOI:<a href=""https://doi.org/10.3390/ijms19041252"">10.3390/ijms19041252</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34237282"">34237282</a> (DNAH10)
 著者        Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ
 タイトル      Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
 雑誌        Am J Hum Genet 108:1466-1477 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.06.010"">10.1016/j.ajhg.2021.06.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34347949"">34347949</a> (PNLDC1)
 著者        Nagirnaja L, Morup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jorgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K
 タイトル      Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
 雑誌        N Engl J Med 385:707-719 (2021)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa2028973"">10.1056/NEJMoa2028973</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33689014"">33689014</a> (IFT74)
 著者        Lores P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Toure A
 タイトル      A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
 雑誌        Hum Genet 140:1031-1043 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-021-02270-7"">10.1007/s00439-021-02270-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33211200"">33211200</a> (TERB2)
 著者        Salas-Huetos A, Tuttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Woste M, Hotaling JM, Nagirnaja L, Conrad DF, Carrell DT, Aston KI
 タイトル      Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
 雑誌        Hum Genet 140:217-227 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02236-1"">10.1007/s00439-020-02236-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32741963"">32741963</a> (TERB1)
 著者        Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castane E, Aston KI, Baarends WM, Tuttelmann F
 タイトル      Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
 雑誌        Genet Med 22:1956-1966 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-0907-1"">10.1038/s41436-020-0907-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31125047"">31125047</a> (STAG3 <a href=""https://pubmed.ncbi.nlm.nih.gov/RNF212)"">RNF212)</a>
 著者        Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castane E, Maggi M, Baarends WM, Krausz C
 タイトル      Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
 雑誌        Hum Reprod 34:978-988 (2019)
 DOI:<a href=""https://doi.org/10.1093/humrep/dez042"">10.1093/humrep/dez042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32111475"">32111475</a> (RPL10L)
 著者        Tu C, Meng L, Nie H, Yuan S, Wang W, Du J, Lu G, Lin G, Tan YQ
 タイトル      A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.
 雑誌        Fertil Steril 113:561-568 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2019.10.029"">10.1016/j.fertnstert.2019.10.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30878252"">30878252</a> (FBXO43)
 著者        Ma Y, Xie N, Xie D, Sun L, Li S, Li P, Li Y, Li J, Dong Z, Xie X
 タイトル      A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family.
 雑誌        Fertil Steril 111:909-917.e1 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2019.01.007"">10.1016/j.fertnstert.2019.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34932939"">34932939</a> (DNHD1)
 著者        Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
 タイトル      Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
 雑誌        Am J Hum Genet 109:157-171 (2022)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.11.022"">10.1016/j.ajhg.2021.11.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31985809"">31985809</a> (ZPBP <a href=""https://pubmed.ncbi.nlm.nih.gov/CCDC62"">CCDC62</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/C2CD6)"">C2CD6)</a>
 著者        Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
 タイトル      Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
 雑誌        Hum Reprod 35:240-252 (2020)
 DOI:<a href=""https://doi.org/10.1093/humrep/dez246"">10.1093/humrep/dez246</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25970010"">25970010</a> (TEX11)
 著者        Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olszewska M, Westernstroer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tuttelmann F
 タイトル      X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
 雑誌        N Engl J Med 372:2097-107 (2015)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1406192"">10.1056/NEJMoa1406192</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33472045"">33472045</a> (CFAP47)
 著者        Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Toure A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
 タイトル      Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
 雑誌        Am J Hum Genet 108:309-323 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.01.002"">10.1016/j.ajhg.2021.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33108537"">33108537</a> (GGN)
 著者        Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF
 タイトル      Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
 雑誌        Hum Genet 140:43-57 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02229-0"">10.1007/s00439-020-02229-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29581481"">29581481</a> (PDHA2)
 著者        Yildirim Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A
 タイトル      Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
 雑誌        Eur J Hum Genet 26:876-885 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0121-7"">10.1038/s41431-018-0121-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33713115"">33713115</a> (ZSWIM7)
 著者        Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X, Shi Q
 タイトル      A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
 雑誌        Hum Reprod 36:1436-1445 (2021)
 DOI:<a href=""https://doi.org/10.1093/humrep/deab046"">10.1093/humrep/deab046</a>"
H01283,マロニル-CoA脱炭酸酵素欠損症,,,"Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.",先天性代謝異常症,,MLYCD [HSA:23417] [KO:K01578],,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: C535702
 OMIM: 248360","PMID:10417274
 著者        FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J
 タイトル      The molecular basis of malonyl-CoA decarboxylase deficiency.
 雑誌        Am J Hum Genet 65:318-26 (1999)
 DOI:10.1086/302492
 PMID:11550227
 著者        Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R
 タイトル      Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
 雑誌        J Neurosci Res 65:591-4 (2001)
 DOI:10.1002/jnr.1189","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01283"">H01283</a>",マロニル-CoA脱炭酸酵素欠損症,"Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.",,"MLYCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23417"">23417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01578"">K01578</a>]",,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535702"">C535702</a>
 OMIM: <a href=""https://www.omim.org/entry/248360"">248360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10417274"">10417274</a>
 著者        FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J
 タイトル      The molecular basis of malonyl-CoA decarboxylase deficiency.
 雑誌        Am J Hum Genet 65:318-26 (1999)
 DOI:<a href=""https://doi.org/10.1086/302492"">10.1086/302492</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11550227"">11550227</a>
 著者        Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R
 タイトル      Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
 雑誌        J Neurosci Res 65:591-4 (2001)
 DOI:<a href=""https://doi.org/10.1002/jnr.1189"">10.1002/jnr.1189</a>"
H01284,マリネスコ・シェーグレン症候群,,,"Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome.",神経系疾患,,SIL1 [HSA:64374] [KO:K14001],,,,,,"ICD-11: 8C70.6
 ICD-10: G11.1
 MeSH: D013132
 OMIM: 248800","PMID:22219183
 著者        Howes J, Shimizu Y, Feige MJ, Hendershot LM
 タイトル      C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjogren syndrome.
 雑誌        J Biol Chem 287:8552-60 (2012)
 DOI:10.1074/jbc.M111.333286
 PMID:16282978
 著者        Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE
 タイトル      The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.
 雑誌        Nat Genet 37:1309-11 (2005)
 DOI:10.1038/ng1677
 PMID:16282977
 著者        Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K
 タイトル      Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.
 雑誌        Nat Genet 37:1312-4 (2005)
 DOI:10.1038/ng1678","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01284"">H01284</a>",マリネスコ・シェーグレン症候群,"Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome.",,"SIL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64374"">64374</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14001"">K14001</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G11.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013132"">D013132</a>
 OMIM: <a href=""https://www.omim.org/entry/248800"">248800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22219183"">22219183</a>
 著者        Howes J, Shimizu Y, Feige MJ, Hendershot LM
 タイトル      C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjogren syndrome.
 雑誌        J Biol Chem 287:8552-60 (2012)
 DOI:<a href=""https://doi.org/10.1074/jbc.M111.333286"">10.1074/jbc.M111.333286</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16282978"">16282978</a>
 著者        Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE
 タイトル      The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.
 雑誌        Nat Genet 37:1309-11 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1677"">10.1038/ng1677</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16282977"">16282977</a>
 著者        Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K
 タイトル      Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.
 雑誌        Nat Genet 37:1312-4 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1678"">10.1038/ng1678</a>"
H01285,メチルコバラミン欠乏G,,,"Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine synthase result in this disease.",先天性代謝異常症,,MTR [HSA:4548] [KO:K00548],,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: C565394
 OMIM: 250940","PMID:12068375
 著者        Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS
 タイトル      Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
 雑誌        Am J Hum Genet 71:143-53 (2002)
 DOI:10.1086/341354","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01285"">H01285</a>",メチルコバラミン欠乏G,"Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine synthase result in this disease.",,"MTR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4548"">4548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00548"">K00548</a>]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565394"">C565394</a>
 OMIM: <a href=""https://www.omim.org/entry/250940"">250940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12068375"">12068375</a>
 著者        Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS
 タイトル      Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
 雑誌        Am J Hum Genet 71:143-53 (2002)
 DOI:<a href=""https://doi.org/10.1086/341354"">10.1086/341354</a>"
H01286,小耳症・難聴および口蓋裂,,,"Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate.",先天奇形,,HOXA2 [HSA:3199] [KO:K09302],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: C567359
 OMIM: 612290","PMID:18394579
 著者        Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
 タイトル      A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
 雑誌        Am J Hum Genet 82:982-91 (2008)
 DOI:10.1016/j.ajhg.2008.02.015
 PMID:22106030
 著者        Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
 タイトル      Microtia: epidemiology and genetics.
 雑誌        Am J Med Genet A 158A:124-39 (2012)
 DOI:10.1002/ajmg.a.34352","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01286"">H01286</a>",小耳症・難聴および口蓋裂,"Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate.",,"HOXA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3199"">3199</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09302"">K09302</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567359"">C567359</a>
 OMIM: <a href=""https://www.omim.org/entry/612290"">612290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18394579"">18394579</a>
 著者        Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G
 タイトル      A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
 雑誌        Am J Hum Genet 82:982-91 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.02.015"">10.1016/j.ajhg.2008.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22106030"">22106030</a>
 著者        Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
 タイトル      Microtia: epidemiology and genetics.
 雑誌        Am J Med Genet A 158A:124-39 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34352"">10.1002/ajmg.a.34352</a>"
H01287,先天性鏡像運動症,,,"Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.",神経系疾患,,"(MRMV1) DCC [HSA:1630] [KO:K06765]
 (MRMV2) RAD51A [HSA:5888] [KO:K04482]
 (MRMV3) DNAL4 [HSA:10126] [KO:K10412]
 (MRMV4) NTN1 [HSA:9423] [KO:K06843]",,,,,,"ICD-11: 8A07.Y
 ICD-10: G25.8
 OMIM: 157600 614508 616059 618264","PMID:20431009
 著者        Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA
 タイトル      Mutations in DCC cause congenital mirror movements.
 雑誌        Science 328:592 (2010)
 DOI:10.1126/science.1186463
 PMID:22305526
 著者        Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E
 タイトル      RAD51 haploinsufficiency causes congenital mirror movements in humans.
 雑誌        Am J Hum Genet 90:301-7 (2012)
 DOI:10.1016/j.ajhg.2011.12.002
 PMID:25098561
 著者        Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB
 タイトル      Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
 雑誌        Hum Genet 133:1419-29 (2014)
 DOI:10.1007/s00439-014-1475-8
 PMID:28945198
 著者        Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D
 タイトル      Mutations in the netrin-1 gene cause congenital mirror movements.
 雑誌        J Clin Invest 127:3923-3936 (2017)
 DOI:10.1172/JCI95442","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01287"">H01287</a>",先天性鏡像運動症,"Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.",,"(MRMV1) DCC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1630"">1630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06765"">K06765</a>]
 (MRMV2) RAD51A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5888"">5888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04482"">K04482</a>]
 (MRMV3) DNAL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10126"">10126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10412"">K10412</a>]
 (MRMV4) NTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9423"">9423</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06843"">K06843</a>]",,,,,,"ICD-11: 8A07.Y
 ICD-10: G25.8
 OMIM: <a href=""https://www.omim.org/entry/157600"">157600</a> <a href=""https://www.omim.org/entry/614508"">614508</a> <a href=""https://www.omim.org/entry/616059"">616059</a> <a href=""https://www.omim.org/entry/618264"">618264</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20431009"">20431009</a>
 著者        Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA
 タイトル      Mutations in DCC cause congenital mirror movements.
 雑誌        Science 328:592 (2010)
 DOI:<a href=""https://doi.org/10.1126/science.1186463"">10.1126/science.1186463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22305526"">22305526</a>
 著者        Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E
 タイトル      RAD51 haploinsufficiency causes congenital mirror movements in humans.
 雑誌        Am J Hum Genet 90:301-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.002"">10.1016/j.ajhg.2011.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25098561"">25098561</a>
 著者        Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB
 タイトル      Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
 雑誌        Hum Genet 133:1419-29 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00439-014-1475-8"">10.1007/s00439-014-1475-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28945198"">28945198</a>
 著者        Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D
 タイトル      Mutations in the netrin-1 gene cause congenital mirror movements.
 雑誌        J Clin Invest 127:3923-3936 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI95442"">10.1172/JCI95442</a>"
H01288,"多彩異数性モザイク症候群;
 MVA症候群",,,"Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B, CEP57, and TRIP13 genes cause MVA.",染色体異常,,"(MVA1) BUB1B [HSA:701] [KO:K06637]
 (MVA2) CEP57 [HSA:9702] [KO:K16762]
 (MVA3) TRIP13 [HSA:9319] [KO:K22399]",,,,,,"ICD-11: LD7Y
 ICD-10: Q99.8
 MeSH: C536987
 OMIM: 257300 614114 617598","PMID:15475955
 著者        Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N
 タイトル      Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
 雑誌        Nat Genet 36:1159-61 (2004)
 DOI:10.1038/ng1449
 PMID:21552266
 著者        Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N
 タイトル      Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
 雑誌        Nat Genet 43:527-9 (2011)
 DOI:10.1038/ng.822
 PMID:28553959
 著者        Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N
 タイトル      Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
 雑誌        Nat Genet 49:1148-1151 (2017)
 DOI:10.1038/ng.3883","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01288"">H01288</a>","多彩異数性モザイク症候群;
 MVA症候群","Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B, CEP57, and TRIP13 genes cause MVA.",,"(MVA1) BUB1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:701"">701</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06637"">K06637</a>]
 (MVA2) CEP57 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9702"">9702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16762"">K16762</a>]
 (MVA3) TRIP13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9319"">9319</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22399"">K22399</a>]",,,,,,"ICD-11: LD7Y
 ICD-10: Q99.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536987"">C536987</a>
 OMIM: <a href=""https://www.omim.org/entry/257300"">257300</a> <a href=""https://www.omim.org/entry/614114"">614114</a> <a href=""https://www.omim.org/entry/617598"">617598</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15475955"">15475955</a>
 著者        Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N
 タイトル      Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
 雑誌        Nat Genet 36:1159-61 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1449"">10.1038/ng1449</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21552266"">21552266</a>
 著者        Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N
 タイトル      Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
 雑誌        Nat Genet 43:527-9 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.822"">10.1038/ng.822</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28553959"">28553959</a>
 著者        Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N
 タイトル      Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
 雑誌        Nat Genet 49:1148-1151 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3883"">10.1038/ng.3883</a>"
H01289,マリブレー低身長症,,,Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations in the TRIM37 gene have been reported in Mulibrey nanism patients.,先天奇形,,TRIM37 [HSA:4591] [KO:K10608],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: D050336
 OMIM: 253250","PMID:15108285
 著者        Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE
 タイトル      Novel mutations in the TRIM37 gene in Mulibrey Nanism.
 雑誌        Hum Mutat 23:522 (2004)
 DOI:10.1002/humu.9233","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01289"">H01289</a>",マリブレー低身長症,Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations in the TRIM37 gene have been reported in Mulibrey nanism patients.,,"TRIM37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4591"">4591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10608"">K10608</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050336"">D050336</a>
 OMIM: <a href=""https://www.omim.org/entry/253250"">253250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15108285"">15108285</a>
 著者        Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE
 タイトル      Novel mutations in the TRIM37 gene in Mulibrey Nanism.
 雑誌        Hum Mutat 23:522 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.9233"">10.1002/humu.9233</a>"
H01290,発作性ミオグロビン尿症,,,"Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.",先天性代謝異常症,,LPIN1 [HSA:23175] [KO:K15728],,,,,,"ICD-11: MF95
 ICD-10: R82.1
 MeSH: C564832
 OMIM: 268200","PMID:18817903
 著者        Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O
 タイトル      Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
 雑誌        Am J Hum Genet 83:489-94 (2008)
 DOI:10.1016/j.ajhg.2008.09.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01290"">H01290</a>",発作性ミオグロビン尿症,"Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.",,"LPIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23175"">23175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15728"">K15728</a>]",,,,,,"ICD-11: MF95
 ICD-10: R82.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564832"">C564832</a>
 OMIM: <a href=""https://www.omim.org/entry/268200"">268200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18817903"">18817903</a>
 著者        Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O
 タイトル      Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
 雑誌        Am J Hum Genet 83:489-94 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.09.002"">10.1016/j.ajhg.2008.09.002</a>"
H01291,スフェロイド小体ミオパチー,,,Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.,神経系疾患; 筋骨格疾患,,MYOT [HSA:9499] [KO:K19875],,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.8
 MeSH: C535466
 OMIM: 182920","PMID:16380616
 著者        Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC
 タイトル      A mutation in myotilin causes spheroid body myopathy.
 雑誌        Neurology 65:1936-40 (2005)
 DOI:10.1212/01.wnl.0000188872.28149.9a","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01291"">H01291</a>",スフェロイド小体ミオパチー,Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.,,"MYOT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9499"">9499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19875"">K19875</a>]",,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535466"">C535466</a>
 OMIM: <a href=""https://www.omim.org/entry/182920"">182920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16380616"">16380616</a>
 著者        Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC
 タイトル      A mutation in myotilin causes spheroid body myopathy.
 雑誌        Neurology 65:1936-40 (2005)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000188872.28149.9a"">10.1212/01.wnl.0000188872.28149.9a</a>"
H01292,Nance-Horan 症候群,,,"Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients with this syndrome.",先天奇形,,NHS [HSA:4810] [KO:K24144],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C538336
 OMIM: 302350","PMID:19414485
 著者        Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
 タイトル      X-linked cataract and Nance-Horan syndrome are allelic disorders.
 雑誌        Hum Mol Genet 18:2643-55 (2009)
 DOI:10.1093/hmg/ddp206","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01292"">H01292</a>",Nance-Horan 症候群,"Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients with this syndrome.",,"NHS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4810"">4810</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24144"">K24144</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538336"">C538336</a>
 OMIM: <a href=""https://www.omim.org/entry/302350"">302350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19414485"">19414485</a>
 著者        Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
 タイトル      X-linked cataract and Nance-Horan syndrome are allelic disorders.
 雑誌        Hum Mol Genet 18:2643-55 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp206"">10.1093/hmg/ddp206</a>"
H01293,ナルコレプシー,,,"Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy is a rare and mainly sporadic disorder. Familial narcolepsy accounts for less than 10% of all narcolepsy cases, and causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown to play a major role in controlling vigilance states. Because of the strong HLA association, hypocretin deficiency is believed to be caused by an autoimmune attack. It has also been reported that a missense mutation in myelin oligodendrocyte glycoprotein (MOG) is the cause of narcolepsy.",神経系疾患,,"HCRT [HSA:3060] [KO:K05246]
 MOG [HSA:4340] [KO:K17270]",,,,"メタンフェタミン塩酸塩 [DR:D02242]
 クロミプラミン塩酸塩 [DR:D00811]
 メチルフェニデート塩酸塩 [DR:D01296]
 ペモリン [DR:D00744]
 モダフィニル [DR:D01832]",,"ICD-11: 7A20
 ICD-10: G47.4
 MeSH: D009290
 OMIM: 161400 614250","PMID:10973318
 著者        Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E
 タイトル      A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
 雑誌        Nat Med 6:991-7 (2000)
 DOI:10.1038/79690
 PMID:21907016
 著者        Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R
 タイトル      A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
 雑誌        Am J Hum Genet 89:474-9 (2011)
 DOI:10.1016/j.ajhg.2011.08.007
 PMID:21963829
 著者        Kornum BR, Faraco J, Mignot E
 タイトル      Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain.
 雑誌        Curr Opin Neurobiol 21:897-903 (2011)
 DOI:10.1016/j.conb.2011.09.003
 PMID:21748548
 著者        Hirai N, Nishino S
 タイトル      Recent advances in the treatment of narcolepsy.
 雑誌        Curr Treat Options Neurol 13:437-57 (2011)
 DOI:10.1007/s11940-011-0137-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01293"">H01293</a>",ナルコレプシー,"Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy is a rare and mainly sporadic disorder. Familial narcolepsy accounts for less than 10% of all narcolepsy cases, and causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown to play a major role in controlling vigilance states. Because of the strong HLA association, hypocretin deficiency is believed to be caused by an autoimmune attack. It has also been reported that a missense mutation in myelin oligodendrocyte glycoprotein (MOG) is the cause of narcolepsy.",,"HCRT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3060"">3060</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05246"">K05246</a>]
 MOG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4340"">4340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17270"">K17270</a>]",,,,"メタンフェタミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02242"">D02242</a>]
 クロミプラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00811"">D00811</a>]
 メチルフェニデート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01296"">D01296</a>]
 ペモリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00744"">D00744</a>]
 モダフィニル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01832"">D01832</a>]",,"ICD-11: 7A20
 ICD-10: G47.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009290"">D009290</a>
 OMIM: <a href=""https://www.omim.org/entry/161400"">161400</a> <a href=""https://www.omim.org/entry/614250"">614250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973318"">10973318</a>
 著者        Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E
 タイトル      A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
 雑誌        Nat Med 6:991-7 (2000)
 DOI:<a href=""https://doi.org/10.1038/79690"">10.1038/79690</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21907016"">21907016</a>
 著者        Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R
 タイトル      A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
 雑誌        Am J Hum Genet 89:474-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.08.007"">10.1016/j.ajhg.2011.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21963829"">21963829</a>
 著者        Kornum BR, Faraco J, Mignot E
 タイトル      Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain.
 雑誌        Curr Opin Neurobiol 21:897-903 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.conb.2011.09.003"">10.1016/j.conb.2011.09.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21748548"">21748548</a>
 著者        Hirai N, Nishino S
 タイトル      Recent advances in the treatment of narcolepsy.
 雑誌        Curr Treat Options Neurol 13:437-57 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11940-011-0137-6"">10.1007/s11940-011-0137-6</a>"
H01294,"抗利尿不適合性腎症候群
 上位グループ    抗利尿ホルモン不適合分泌症候群 (SIADH) [DS:H01682]
 ADH 分泌異常症 [DS:H01683]",,,Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia.,,nt06326  AVP signaling,AVPR2 [HSA:554] [KO:K04228],,,,,,"ICD-11: 5A60.20
 ICD-10: E22.2
 MeSH: C564491
 OMIM: 300539","PMID:22722264
 著者        Vandergheynst F, Brachet C, Heinrichs C, Decaux G
 タイトル      Long-term treatment of hyponatremic patients with nephrogenic syndrome of inappropriate antidiuresis: personal experience and review of published case reports.
 雑誌        Nephron Clin Pract 120:c168-72 (2012)
 DOI:10.1159/000338539
 PMID:15872203
 著者        Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE
 タイトル      Nephrogenic syndrome of inappropriate antidiuresis.
 雑誌        N Engl J Med 352:1884-90 (2005)
 DOI:10.1056/NEJMoa042743","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01294"">H01294</a>","抗利尿不適合性腎症候群
 上位グループ    抗利尿ホルモン不適合分泌症候群 (SIADH) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01682"">H01682</a>]
 ADH 分泌異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01683"">H01683</a>]",Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia.,"<a href=""https://www.kegg.jp/network/nt06326"">nt06326</a>  AVP signaling","AVPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:554"">554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04228"">K04228</a>]",,,,,,"ICD-11: 5A60.20
 ICD-10: E22.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564491"">C564491</a>
 OMIM: <a href=""https://www.omim.org/entry/300539"">300539</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22722264"">22722264</a>
 著者        Vandergheynst F, Brachet C, Heinrichs C, Decaux G
 タイトル      Long-term treatment of hyponatremic patients with nephrogenic syndrome of inappropriate antidiuresis: personal experience and review of published case reports.
 雑誌        Nephron Clin Pract 120:c168-72 (2012)
 DOI:<a href=""https://doi.org/10.1159/000338539"">10.1159/000338539</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15872203"">15872203</a>
 著者        Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE
 タイトル      Nephrogenic syndrome of inappropriate antidiuresis.
 雑誌        N Engl J Med 352:1884-90 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa042743"">10.1056/NEJMoa042743</a>"
H01295,脳葉酸輸送不全による神経変性,,,"Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Folate-receptor alpha (FOLR1) is of central importance for folate transport across the blood brain barrier via the choroid plexus. It has been reported that mutations in FOLR1 cause this disease. Folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.",,,FOLR1 [HSA:2348] [KO:K13649],,,,,,"ICD-11: 5C63.1
 ICD-10: G31.8
 MeSH: C567791
 OMIM: 613068","PMID:19732866
 著者        Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gartner J
 タイトル      Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
 雑誌        Am J Hum Genet 85:354-63 (2009)
 DOI:10.1016/j.ajhg.2009.08.005
 PMID:20018644
 著者        Cario H, Bode H, Debatin KM, Opladen T, Schwarz K
 タイトル      Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.
 雑誌        Neurology 73:2127-9 (2009)
 DOI:10.1212/WNL.0b013e3181c679df","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01295"">H01295</a>",脳葉酸輸送不全による神経変性,"Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Folate-receptor alpha (FOLR1) is of central importance for folate transport across the blood brain barrier via the choroid plexus. It has been reported that mutations in FOLR1 cause this disease. Folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.",,"FOLR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2348"">2348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13649"">K13649</a>]",,,,,,"ICD-11: 5C63.1
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567791"">C567791</a>
 OMIM: <a href=""https://www.omim.org/entry/613068"">613068</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19732866"">19732866</a>
 著者        Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gartner J
 タイトル      Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
 雑誌        Am J Hum Genet 85:354-63 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.08.005"">10.1016/j.ajhg.2009.08.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20018644"">20018644</a>
 著者        Cario H, Bode H, Debatin KM, Opladen T, Schwarz K
 タイトル      Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.
 雑誌        Neurology 73:2127-9 (2009)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3181c679df"">10.1212/WNL.0b013e3181c679df</a>"
H01296,圧迫麻痺性遺伝性ニューロパチー (HNPP),,,Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.,神経系疾患,,PMP22 [HSA:5376] [KO:K19289],,,,,Charcot-Marie-Tooth disease is described in H00264. [DS:H00264],"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: C536965
 OMIM: 162500","PMID:12796555
 著者        Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R
 タイトル      HNPP due to a novel missense mutation of the PMP22 gene.
 雑誌        Neurology 60:1863-4 (2003)
 DOI:10.1212/01.WNL.0000066049.13848.F2
 PMID:19078663
 著者        Kumar N, Muley S, Pakiam A, Parry GJ
 タイトル      Phenotypic Variability Leads to Under-recognition of HNPP.
 雑誌        J Clin Neuromuscul Dis 3:106-12 (2002)
 DOI:10.1097/00131402-200203000-00002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01296"">H01296</a>",圧迫麻痺性遺伝性ニューロパチー (HNPP),Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.,,"PMP22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5376"">5376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19289"">K19289</a>]",,,,,"Charcot-Marie-Tooth disease is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00264."">H00264.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>]","ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536965"">C536965</a>
 OMIM: <a href=""https://www.omim.org/entry/162500"">162500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12796555"">12796555</a>
 著者        Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R
 タイトル      HNPP due to a novel missense mutation of the PMP22 gene.
 雑誌        Neurology 60:1863-4 (2003)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000066049.13848.F2"">10.1212/01.WNL.0000066049.13848.F2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19078663"">19078663</a>
 著者        Kumar N, Muley S, Pakiam A, Parry GJ
 タイトル      Phenotypic Variability Leads to Under-recognition of HNPP.
 雑誌        J Clin Neuromuscul Dis 3:106-12 (2002)
 DOI:<a href=""https://doi.org/10.1097/00131402-200203000-00002"">10.1097/00131402-200203000-00002</a>"
H01297,ミオパシーを伴う中性脂質蓄積症,,,"Neutral lipid storage disease (NLSD) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSD, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).",,,PNPLA2 [HSA:57104] [KO:K16816],,,,,Dorfman-Chanarin syndrome [DS:H00736] is defined as an NLSD with ichthyosis.,"ICD-11: 5C52.2
 ICD-10: E75.5
 MeSH: C565192
 OMIM: 610717","PMID:17187067
 著者        Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R
 タイトル      The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
 雑誌        Nat Genet 39:28-30 (2007)
 DOI:10.1038/ng1951","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01297"">H01297</a>",ミオパシーを伴う中性脂質蓄積症,"Neutral lipid storage disease (NLSD) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSD, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).",,"PNPLA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57104"">57104</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16816"">K16816</a>]",,,,,"Dorfman-Chanarin syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00736"">H00736</a>] is defined as an NLSD with ichthyosis.","ICD-11: 5C52.2
 ICD-10: E75.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565192"">C565192</a>
 OMIM: <a href=""https://www.omim.org/entry/610717"">610717</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17187067"">17187067</a>
 著者        Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R
 タイトル      The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
 雑誌        Nat Genet 39:28-30 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1951"">10.1038/ng1951</a>"
H01298,肺胞微石症,,,"Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease.",,,SLC34A2 [HSA:10568] [KO:K14683],,,,,,"ICD-11: CB06
 OMIM: 265100","PMID:16960801
 著者        Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A
 タイトル      Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
 雑誌        Am J Hum Genet 79:650-6 (2006)
 DOI:10.1086/508263","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01298"">H01298</a>",肺胞微石症,"Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease.",,"SLC34A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10568"">10568</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]",,,,,,"ICD-11: CB06
 OMIM: <a href=""https://www.omim.org/entry/265100"">265100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16960801"">16960801</a>
 著者        Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A
 タイトル      Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
 雑誌        Am J Hum Genet 79:650-6 (2006)
 DOI:<a href=""https://doi.org/10.1086/508263"">10.1086/508263</a>"
H01299,特発性肺線維症,,,"Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant.",肺疾患,,"TERC [HSA:7012] [KO:K22183]
 TERT [HSA:7015] [KO:K11126]
 SFTPA1 [HSA:653509] [KO:K10067]
 SFTPA2 [HSA:729238] [KO:K10067]
 SFTPC [HSA:6440]
 MUC5B [HSA:727897] [KO:K13908]",,,,"ニンテダニブエタンスルホン酸塩 [DR:D10396]
 ピルフェニドン [DR:D01583]",,"ICD-11: CB03.4
 ICD-10: J84.1
 OMIM: 178500","PMID:19100526
 著者        Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK
 タイトル      Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
 雑誌        Am J Hum Genet 84:52-9 (2009)
 DOI:10.1016/j.ajhg.2008.11.010
 PMID:21613931
 著者        Lawson WE, Loyd JE, Degryse AL
 タイトル      Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.
 雑誌        Am J Med Sci 341:439-43 (2011)
 DOI:10.1097/MAJ.0b013e31821a9d7a
 PMID:17168848
 著者        Heinrich S, Hartl D, Griese M
 タイトル      Surfactant protein A--from genes to human lung diseases.
 雑誌        Curr Med Chem 13:3239-52 (2006)
 DOI:10.2174/092986706778773112
 PMID:21506748
 著者        Zhang Y, Noth I, Garcia JG, Kaminski N
 タイトル      A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.
 雑誌        N Engl J Med 364:1576-7 (2011)
 DOI:10.1056/NEJMc1013504
 PMID:26846335 (drug)
 著者        Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R
 タイトル      Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis.
 雑誌        Respir Res 17:14 (2016)
 DOI:10.1186/s12931-016-0328-5
 PMID:24032382 (marker)
 著者        Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D
 タイトル      An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.
 雑誌        Am J Respir Crit Care Med 188:733-48 (2013)
 DOI:10.1164/rccm.201308-1483ST","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01299"">H01299</a>",特発性肺線維症,"Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant.",,"TERC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7012"">7012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22183"">K22183</a>]
 TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 SFTPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:653509"">653509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10067"">K10067</a>]
 SFTPA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729238"">729238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10067"">K10067</a>]
 SFTPC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6440"">6440</a>]
 MUC5B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:727897"">727897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13908"">K13908</a>]",,,,"ニンテダニブエタンスルホン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10396"">D10396</a>]
 ピルフェニドン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01583"">D01583</a>]",,"ICD-11: CB03.4
 ICD-10: J84.1
 OMIM: <a href=""https://www.omim.org/entry/178500"">178500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19100526"">19100526</a>
 著者        Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK
 タイトル      Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
 雑誌        Am J Hum Genet 84:52-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.11.010"">10.1016/j.ajhg.2008.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21613931"">21613931</a>
 著者        Lawson WE, Loyd JE, Degryse AL
 タイトル      Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis.
 雑誌        Am J Med Sci 341:439-43 (2011)
 DOI:<a href=""https://doi.org/10.1097/MAJ.0b013e31821a9d7a"">10.1097/MAJ.0b013e31821a9d7a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17168848"">17168848</a>
 著者        Heinrich S, Hartl D, Griese M
 タイトル      Surfactant protein A--from genes to human lung diseases.
 雑誌        Curr Med Chem 13:3239-52 (2006)
 DOI:<a href=""https://doi.org/10.2174/092986706778773112"">10.2174/092986706778773112</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21506748"">21506748</a>
 著者        Zhang Y, Noth I, Garcia JG, Kaminski N
 タイトル      A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.
 雑誌        N Engl J Med 364:1576-7 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMc1013504"">10.1056/NEJMc1013504</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26846335"">26846335</a> (drug)
 著者        Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R
 タイトル      Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis.
 雑誌        Respir Res 17:14 (2016)
 DOI:<a href=""https://doi.org/10.1186/s12931-016-0328-5"">10.1186/s12931-016-0328-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24032382"">24032382</a> (marker)
 著者        Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D
 タイトル      An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.
 雑誌        Am J Respir Crit Care Med 188:733-48 (2013)
 DOI:<a href=""https://doi.org/10.1164/rccm.201308-1483ST"">10.1164/rccm.201308-1483ST</a>"
H01301,出血性脳疾患・上衣下石灰化および白内障,,,"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome.",神経系疾患,,JAM3 [HSA:83700] [KO:K06785],,,,,,OMIM: 613730,"PMID:21109224
 著者        Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA
 タイトル      A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
 雑誌        Am J Hum Genet 87:882-9 (2010)
 DOI:10.1016/j.ajhg.2010.10.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01301"">H01301</a>",出血性脳疾患・上衣下石灰化および白内障,"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome.",,"JAM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83700"">83700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06785"">K06785</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/613730"">613730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21109224"">21109224</a>
 著者        Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA
 タイトル      A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
 雑誌        Am J Hum Genet 87:882-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.026"">10.1016/j.ajhg.2010.10.026</a>"
H01302,Hyperchlorhidrosis isolated,,,"Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis isolated (HCHLH) is autosomal recessive nonsyndromic disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is caused by homozygous mutation in CA12, encoding carbonic anhydrase.",,,CA12 [HSA:771] [KO:K01672],,,,,,OMIM: 143860,"PMID:21035102
 著者        Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS
 タイトル      Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
 雑誌        Am J Hum Genet 87:713-20 (2010)
 DOI:10.1016/j.ajhg.2010.10.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01302"">H01302</a>",Hyperchlorhidrosis isolated,"Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis isolated (HCHLH) is autosomal recessive nonsyndromic disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is caused by homozygous mutation in CA12, encoding carbonic anhydrase.",,"CA12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:771"">771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01672"">K01672</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/143860"">143860</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21035102"">21035102</a>
 著者        Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS
 タイトル      Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
 雑誌        Am J Hum Genet 87:713-20 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.008"">10.1016/j.ajhg.2010.10.008</a>"
H01303,異化亢進性低タンパク血症,,,"Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin (B2M) that binds two ligands, IgG and albumin. It has been suggested that a mutation in B2M gene causes this disease.",血液疾患,,B2M [HSA:567] [KO:K08055],,,,,,OMIM: 241600,"PMID:16549777
 著者        Wani MA, Haynes LD, Kim J, Bronson CL, Chaudhury C, Mohanty S, Waldmann TA, Robinson JM, Anderson CL
 タイトル      Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
 雑誌        Proc Natl Acad Sci U S A 103:5084-9 (2006)
 DOI:10.1073/pnas.0600548103
 PMID:2254461
 著者        Waldmann TA, Terry WD
 タイトル      Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.
 雑誌        J Clin Invest 86:2093-8 (1990)
 DOI:10.1172/JCI114947","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01303"">H01303</a>",異化亢進性低タンパク血症,"Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin (B2M) that binds two ligands, IgG and albumin. It has been suggested that a mutation in B2M gene causes this disease.",,"B2M [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:567"">567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08055"">K08055</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/241600"">241600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16549777"">16549777</a>
 著者        Wani MA, Haynes LD, Kim J, Bronson CL, Chaudhury C, Mohanty S, Waldmann TA, Robinson JM, Anderson CL
 タイトル      Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
 雑誌        Proc Natl Acad Sci U S A 103:5084-9 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0600548103"">10.1073/pnas.0600548103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2254461"">2254461</a>
 著者        Waldmann TA, Terry WD
 タイトル      Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.
 雑誌        J Clin Invest 86:2093-8 (1990)
 DOI:<a href=""https://doi.org/10.1172/JCI114947"">10.1172/JCI114947</a>"
H01304,高グリシン尿症,,,"Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters.",泌尿器系疾患,,"SLC6A20 [HSA:54716] [KO:K05048]
 SLC6A19 [HSA:340024] [KO:K05334]
 SLC36A2 [HSA:153201] [KO:K14209]",,,,,Iminoglycinuria [DS:H00905] is related disorder.,"ICD-11: 5C60.Y
 OMIM: 138500","PMID:19033659
 著者        Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE
 タイトル      Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
 雑誌        J Clin Invest 118:3881-92 (2008)
 DOI:10.1172/JCI36625","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01304"">H01304</a>",高グリシン尿症,"Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters.",,"SLC6A20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54716"">54716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05048"">K05048</a>]
 SLC6A19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340024"">340024</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05334"">K05334</a>]
 SLC36A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:153201"">153201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14209"">K14209</a>]",,,,,"Iminoglycinuria [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00905"">H00905</a>] is related disorder.","ICD-11: 5C60.Y
 OMIM: <a href=""https://www.omim.org/entry/138500"">138500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19033659"">19033659</a>
 著者        Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE
 タイトル      Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
 雑誌        J Clin Invest 118:3881-92 (2008)
 DOI:<a href=""https://doi.org/10.1172/JCI36625"">10.1172/JCI36625</a>"
H01305,"脳のミエリン形成不全;
 早期乳児てんかん性脳症 39
 上位グループ    早期乳児てんかん性脳症 [DS:H00606]
 症候性全般てんかん [DS:H00577]",,,"Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this syndrome. AGC1 is thought to be important in providing energy for neurons in the central nervous system.",神経系疾患,,SLC25A12 [HSA:8604] [KO:K15105],,,,,,"ICD-11: 5C53.30
 ICD-10: G31.8
 MeSH: C567847
 OMIM: 612949","PMID:19641205
 著者        Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A
 タイトル      AGC1 deficiency associated with global cerebral hypomyelination.
 雑誌        N Engl J Med 361:489-95 (2009)
 DOI:10.1056/NEJMoa0900591","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01305"">H01305</a>","脳のミエリン形成不全;
 早期乳児てんかん性脳症 39
 上位グループ    早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this syndrome. AGC1 is thought to be important in providing energy for neurons in the central nervous system.",,"SLC25A12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8604"">8604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15105"">K15105</a>]",,,,,,"ICD-11: 5C53.30
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567847"">C567847</a>
 OMIM: <a href=""https://www.omim.org/entry/612949"">612949</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19641205"">19641205</a>
 著者        Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A
 タイトル      AGC1 deficiency associated with global cerebral hypomyelination.
 雑誌        N Engl J Med 361:489-95 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900591"">10.1056/NEJMoa0900591</a>"
H01306,FRA12A 精神遅滞,,,"FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.",精神及び行動の障害,,DIP2B [HSA:57609] [KO:K24908],,,,,,"ICD-11: 6A00
 ICD-10: F79
 MeSH: C566980
 OMIM: 136630","PMID:17236128
 著者        Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF
 タイトル      CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
 雑誌        Am J Hum Genet 80:221-31 (2007)
 DOI:10.1086/510800
 PMID:18957431
 著者        Kumari D, Usdin K
 タイトル      Chromatin remodeling in the noncoding repeat expansion diseases.
 雑誌        J Biol Chem 284:7413-7 (2009)
 DOI:10.1074/jbc.R800026200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01306"">H01306</a>",FRA12A 精神遅滞,"FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.",,"DIP2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57609"">57609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24908"">K24908</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F79
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566980"">C566980</a>
 OMIM: <a href=""https://www.omim.org/entry/136630"">136630</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17236128"">17236128</a>
 著者        Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF
 タイトル      CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
 雑誌        Am J Hum Genet 80:221-31 (2007)
 DOI:<a href=""https://doi.org/10.1086/510800"">10.1086/510800</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18957431"">18957431</a>
 著者        Kumari D, Usdin K
 タイトル      Chromatin remodeling in the noncoding repeat expansion diseases.
 雑誌        J Biol Chem 284:7413-7 (2009)
 DOI:<a href=""https://doi.org/10.1074/jbc.R800026200"">10.1074/jbc.R800026200</a>"
H01307,"非症候性先天性爪疾患
 下位グループ    先天性無爪 [DS:H00683]",,,"Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified that mutations in the RSPO4 and FZD6, components of the Wnt pathway, cause hypoplastic nail disorders. Hereditary leukonychia is caused by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending from simple toe-nail dystrophy without skin fragility to typical dominant dystrophic epidermolysis bullosa.",皮膚疾患,,"(NDNC1) FZD6 [HSA:8323] [KO:K02376]
 (NDNC3) PLCD1 [HSA:5333] [KO:K05857]
 (NDNC4) RSPO4 [HSA:343637] [KO:K23099]
 (NDNC8) COL7A1 [HSA:1294] [KO:K16628]",,,,,"Defects in RSPO4 are the cause of Anonychia congenita. [DS:H00683]
 Dominant dystrophic epidermolysis bullosa is described in H00587. [DS:H00587]","ICD-11: EC22.0
 ICD-10: L60.3
 OMIM: 161050 151600 206800 607523","PMID:22211385 (NDNC1)
 著者        Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC
 タイトル      FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
 雑誌        Br J Dermatol 166:1088-94 (2012)
 DOI:10.1111/j.1365-2133.2011.10800.x
 PMID:21665001 (NDNC3)
 著者        Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM
 タイトル      Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
 雑誌        Am J Hum Genet 88:839-44 (2011)
 DOI:10.1016/j.ajhg.2011.05.014
 PMID:17041604 (NDNC4)
 著者        Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP
 タイトル      The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
 雑誌        Nat Genet 38:1245-7 (2006)
 DOI:10.1038/ng1883
 PMID:15113589 (NDNC8)
 著者        Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H
 タイトル      The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
 雑誌        J Dermatol Sci 34:195-200 (2004)
 DOI:10.1016/j.jdermsci.2004.02.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01307"">H01307</a>","非症候性先天性爪疾患
 下位グループ    先天性無爪 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00683"">H00683</a>]","Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified that mutations in the RSPO4 and FZD6, components of the Wnt pathway, cause hypoplastic nail disorders. Hereditary leukonychia is caused by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending from simple toe-nail dystrophy without skin fragility to typical dominant dystrophic epidermolysis bullosa.",,"(NDNC1) FZD6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8323"">8323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02376"">K02376</a>]
 (NDNC3) PLCD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5333"">5333</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05857"">K05857</a>]
 (NDNC4) RSPO4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:343637"">343637</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23099"">K23099</a>]
 (NDNC8) COL7A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1294"">1294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16628"">K16628</a>]",,,,,"Defects in RSPO4 are the cause of Anonychia congenita. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00683"">H00683</a>]
 Dominant dystrophic epidermolysis bullosa is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00587."">H00587.</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00587"">H00587</a>]","ICD-11: EC22.0
 ICD-10: L60.3
 OMIM: <a href=""https://www.omim.org/entry/161050"">161050</a> <a href=""https://www.omim.org/entry/151600"">151600</a> <a href=""https://www.omim.org/entry/206800"">206800</a> <a href=""https://www.omim.org/entry/607523"">607523</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22211385"">22211385</a> (NDNC1)
 著者        Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC
 タイトル      FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
 雑誌        Br J Dermatol 166:1088-94 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2011.10800.x"">10.1111/j.1365-2133.2011.10800.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21665001"">21665001</a> (NDNC3)
 著者        Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM
 タイトル      Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
 雑誌        Am J Hum Genet 88:839-44 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.014"">10.1016/j.ajhg.2011.05.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17041604"">17041604</a> (NDNC4)
 著者        Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP
 タイトル      The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
 雑誌        Nat Genet 38:1245-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1883"">10.1038/ng1883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15113589"">15113589</a> (NDNC8)
 著者        Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H
 タイトル      The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
 雑誌        J Dermatol Sci 34:195-200 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2004.02.005"">10.1016/j.jdermsci.2004.02.005</a>"
H01308,巨大頭蓋巨人症および顔異形症候群,,,"Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome.",先天奇形,,RNF135 [HSA:84282] [KO:K16272],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 614192","PMID:17632510
 著者        Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Rahman N
 タイトル      Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
 雑誌        Nat Genet 39:963-5 (2007)
 DOI:10.1038/ng2083","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01308"">H01308</a>",巨大頭蓋巨人症および顔異形症候群,"Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome.",,"RNF135 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84282"">84282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16272"">K16272</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/614192"">614192</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17632510"">17632510</a>
 著者        Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, Rahman N
 タイトル      Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
 雑誌        Nat Genet 39:963-5 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2083"">10.1038/ng2083</a>"
H01309,若年性サルコイドーシス,,,"Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.",免疫系疾患,,NOD2 [HSA:64127] [KO:K10165],,,,,,"ICD-11: 4B20
 ICD-10: D86
 MeSH: D012507
 OMIM: 609464","PMID:19467619
 著者        Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F
 タイトル      NOD2-associated diseases: Bridging innate immunity and autoinflammation.
 雑誌        Clin Immunol 134:251-61 (2010)
 DOI:10.1016/j.clim.2009.05.005
 PMID:19116920
 著者        Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
 タイトル      Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
 雑誌        Arthritis Rheum 60:242-50 (2009)
 DOI:10.1002/art.24134","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01309"">H01309</a>",若年性サルコイドーシス,"Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.",,"NOD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64127"">64127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10165"">K10165</a>]",,,,,,"ICD-11: 4B20
 ICD-10: D86
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012507"">D012507</a>
 OMIM: <a href=""https://www.omim.org/entry/609464"">609464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19467619"">19467619</a>
 著者        Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F
 タイトル      NOD2-associated diseases: Bridging innate immunity and autoinflammation.
 雑誌        Clin Immunol 134:251-61 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2009.05.005"">10.1016/j.clim.2009.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19116920"">19116920</a>
 著者        Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T
 タイトル      Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
 雑誌        Arthritis Rheum 60:242-50 (2009)
 DOI:<a href=""https://doi.org/10.1002/art.24134"">10.1002/art.24134</a>"
H01310,"マルチミニコア病;
 脊椎硬直症候群
 上位グループ    先天性筋ジストロフィー [DS:H00590]
 先天性ミオパチー [DS:H01810]",,,"Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined by localized multiple areas of mitochondrial depletion and sarcomere disorganization, running to a limited extent along the longitudinal axis of muscle fiber (""minicores""). Marked clinical variability corresponds to genetic heterogeneity. Mutations in the SEPN1 gene have been identified in patients with the classic axial phenotype characterized by spinal rigidity, early scoliosis, and respiratory impairment, whereas mutations in the RYR1 gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement.",神経系疾患; 筋骨格疾患,,"SEPN1 [HSA:57190] [KO:K19874]
 RYR1 [HSA:6261] [KO:K04961]",,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.2
 MeSH: C564969
 OMIM: 602771 255320","PMID:18367042
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:10.1007/s11910-008-0012-3
 PMID:17631035
 著者        Jungbluth H
 タイトル      Multi-minicore Disease.
 雑誌        Orphanet J Rare Dis 2:31 (2007)
 DOI:10.1186/1750-1172-2-31","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01310"">H01310</a>","マルチミニコア病;
 脊椎硬直症候群
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 先天性ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>]","Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined by localized multiple areas of mitochondrial depletion and sarcomere disorganization, running to a limited extent along the longitudinal axis of muscle fiber (""minicores""). Marked clinical variability corresponds to genetic heterogeneity. Mutations in the SEPN1 gene have been identified in patients with the classic axial phenotype characterized by spinal rigidity, early scoliosis, and respiratory impairment, whereas mutations in the RYR1 gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement.",,"SEPN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57190"">57190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19874"">K19874</a>]
 RYR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6261"">6261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04961"">K04961</a>]",,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564969"">C564969</a>
 OMIM: <a href=""https://www.omim.org/entry/602771"">602771</a> <a href=""https://www.omim.org/entry/255320"">255320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18367042"">18367042</a>
 著者        D'Amico A, Bertini E
 タイトル      Congenital myopathies.
 雑誌        Curr Neurol Neurosci Rep 8:73-9 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11910-008-0012-3"">10.1007/s11910-008-0012-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17631035"">17631035</a>
 著者        Jungbluth H
 タイトル      Multi-minicore Disease.
 雑誌        Orphanet J Rare Dis 2:31 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-31"">10.1186/1750-1172-2-31</a>"
H01311,腸管組織侵襲性大腸菌感染症,,,"Enteroinvasive Escherichia coli (EIEC) infection is common in developing countries and comparatively rare in developed countries. EIEC invades intestinal epithelial cells, causing necrosis, ulceration of the mucous membrane, resulting in a dysentery-like syndrome with fever and mucous-bloody stools. EIEC strains contain a large invasion-associated plasmid, which are nearly identical to those of Shigella species.",感染症,,,Escherichia coli (EIEC),,,,,"ICD-11: 1A03.2
 ICD-10: A04.2","PMID:16182469
 著者        Parsot C
 タイトル      Shigella spp. and enteroinvasive Escherichia coli pathogenicity factors.
 雑誌        FEMS Microbiol Lett 252:11-8 (2005)
 DOI:10.1016/j.femsle.2005.08.046
 PMID:21901636
 著者        van den Beld MJ, Reubsaet FA
 タイトル      Differentiation between Shigella, enteroinvasive Escherichia coli (EIEC) and noninvasive Escherichia coli.
 雑誌        Eur J Clin Microbiol Infect Dis 31:899-904 (2012)
 DOI:10.1007/s10096-011-1395-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01311"">H01311</a>",腸管組織侵襲性大腸菌感染症,"Enteroinvasive Escherichia coli (EIEC) infection is common in developing countries and comparatively rare in developed countries. EIEC invades intestinal epithelial cells, causing necrosis, ulceration of the mucous membrane, resulting in a dysentery-like syndrome with fever and mucous-bloody stools. EIEC strains contain a large invasion-associated plasmid, which are nearly identical to those of Shigella species.",,,Escherichia coli (EIEC),,,,,"ICD-11: 1A03.2
 ICD-10: A04.2","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16182469"">16182469</a>
 著者        Parsot C
 タイトル      Shigella spp. and enteroinvasive Escherichia coli pathogenicity factors.
 雑誌        FEMS Microbiol Lett 252:11-8 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.femsle.2005.08.046"">10.1016/j.femsle.2005.08.046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21901636"">21901636</a>
 著者        van den Beld MJ, Reubsaet FA
 タイトル      Differentiation between Shigella, enteroinvasive Escherichia coli (EIEC) and noninvasive Escherichia coli.
 雑誌        Eur J Clin Microbiol Infect Dis 31:899-904 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10096-011-1395-7"">10.1007/s10096-011-1395-7</a>"
H01312,腸管凝集性大腸菌感染症,,,"Enteroaggregative Escherichia coli (EAEC or EAggEC) infection is a cause of traveler's diarrhea and persistent watery diarrhea in young children and patients infected with HIV. EAEC adheres to the small intestine via aggregative adherence fimbriae. The adherent rods resemble stacked bricks and result in shortening of microvilli. Approximately 40% of EAEC strains produce a heat-stable toxin, EAST1.",感染症,,,Escherichia coli (EAEC) [GN:eck elo],,,,,"ICD-11: 1A03.Y
 ICD-10: A04.4
 MeSH: D004927","PMID:11871803
 著者        Okeke IN, Nataro JP
 タイトル      Enteroaggregative Escherichia coli.
 雑誌        Lancet Infect Dis 1:304-13 (2001)
 DOI:10.1016/S1473-3099(01)00144-X
 PMID:17005776
 著者        Huang DB, Mohanty A, DuPont HL, Okhuysen PC, Chiang T
 タイトル      A review of an emerging enteric pathogen: enteroaggregative Escherichia coli.
 雑誌        J Med Microbiol 55:1303-11 (2006)
 DOI:10.1099/jmm.0.46674-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01312"">H01312</a>",腸管凝集性大腸菌感染症,"Enteroaggregative Escherichia coli (EAEC or EAggEC) infection is a cause of traveler's diarrhea and persistent watery diarrhea in young children and patients infected with HIV. EAEC adheres to the small intestine via aggregative adherence fimbriae. The adherent rods resemble stacked bricks and result in shortening of microvilli. Approximately 40% of EAEC strains produce a heat-stable toxin, EAST1.",,,"Escherichia coli (EAEC) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eck"">eck</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:elo"">elo</a>]",,,,,"ICD-11: 1A03.Y
 ICD-10: A04.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004927"">D004927</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11871803"">11871803</a>
 著者        Okeke IN, Nataro JP
 タイトル      Enteroaggregative Escherichia coli.
 雑誌        Lancet Infect Dis 1:304-13 (2001)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(01)00144-X"">10.1016/S1473-3099(01)00144-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17005776"">17005776</a>
 著者        Huang DB, Mohanty A, DuPont HL, Okhuysen PC, Chiang T
 タイトル      A review of an emerging enteric pathogen: enteroaggregative Escherichia coli.
 雑誌        J Med Microbiol 55:1303-11 (2006)
 DOI:<a href=""https://doi.org/10.1099/jmm.0.46674-0"">10.1099/jmm.0.46674-0</a>"
H01313,"大腸菌性髄膜炎;
 新生児髄膜炎起因大腸菌感染症",,,"Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia coli (NMEC) strains possessing the K1 capsular polysaccharide is a major cause of neonatal meningitis.",感染症,,,Escherichia coli (NMEC) [GN:eoc eih ecz],,,,,"ICD-11: 1D01.0Y
 ICD-10: G00.8
 MeSH: D020814","PMID:22123760
 著者        Lu S, Zhang X, Zhu Y, Kim KS, Yang J, Jin Q
 タイトル      Complete genome sequence of the neonatal-meningitis-associated Escherichia coli strain CE10.
 雑誌        J Bacteriol 193:7005 (2011)
 DOI:10.1128/JB.06284-11","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01313"">H01313</a>","大腸菌性髄膜炎;
 新生児髄膜炎起因大腸菌感染症","Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia coli (NMEC) strains possessing the K1 capsular polysaccharide is a major cause of neonatal meningitis.",,,"Escherichia coli (NMEC) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eoc"">eoc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eih"">eih</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecz"">ecz</a>]",,,,,"ICD-11: 1D01.0Y
 ICD-10: G00.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020814"">D020814</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22123760"">22123760</a>
 著者        Lu S, Zhang X, Zhu Y, Kim KS, Yang J, Jin Q
 タイトル      Complete genome sequence of the neonatal-meningitis-associated Escherichia coli strain CE10.
 雑誌        J Bacteriol 193:7005 (2011)
 DOI:<a href=""https://doi.org/10.1128/JB.06284-11"">10.1128/JB.06284-11</a>"
H01314,"鼠咬症;
 そこう症;
 ヘーヴァヒル熱",,,"Rat-bite fever is a systemic febrile zoonotic illness caused by either Streptobacillus moniliformis, common in Western countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is manifested by acute relapsing fever with migratory polyarthralgia. It is transmitted from rodents to humans either by rodent urine or from mucosal secretions.",感染症,,,"Streptobacillus moniliformis [GN:smf]
 Spirillum minus",,,ベンジルペニシリンカリウム [DR:D01053],,"ICD-11: 1B90
 ICD-10: A25 A25.0 A25.1
 MeSH: D011906","PMID:27366177
 著者        Akter R, Boland P, Daley P, Rahman P, Al Ghanim N
 タイトル      Rat Bite Fever Resembling Rheumatoid Arthritis.
 雑誌        Can J Infect Dis Med Microbiol 2016:7270413 (2016)
 DOI:10.1155/2016/7270413
 PMID:28846362
 著者        Gupta M, Oliver TI
 タイトル      Rat-bite Fever (Streptobacillus moniliformis, Sodoku, Spirillum Minor)
 雑誌        StatPearls (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01314"">H01314</a>","鼠咬症;
 そこう症;
 ヘーヴァヒル熱","Rat-bite fever is a systemic febrile zoonotic illness caused by either Streptobacillus moniliformis, common in Western countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is manifested by acute relapsing fever with migratory polyarthralgia. It is transmitted from rodents to humans either by rodent urine or from mucosal secretions.",,,"Streptobacillus moniliformis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smf"">smf</a>]
 Spirillum minus",,,"ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]",,"ICD-11: 1B90
 ICD-10: A25 A25.0 A25.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011906"">D011906</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27366177"">27366177</a>
 著者        Akter R, Boland P, Daley P, Rahman P, Al Ghanim N
 タイトル      Rat Bite Fever Resembling Rheumatoid Arthritis.
 雑誌        Can J Infect Dis Med Microbiol 2016:7270413 (2016)
 DOI:<a href=""https://doi.org/10.1155/2016/7270413"">10.1155/2016/7270413</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28846362"">28846362</a>
 著者        Gupta M, Oliver TI
 タイトル      Rat-bite Fever (Streptobacillus moniliformis, Sodoku, Spirillum Minor)
 雑誌        StatPearls (2020)"
H01315,"類丹毒;
 豚丹毒",,,"Erysipelothrix rhusiopathiae is a non-sporulating, gram-positive, rod-shaped bacterium which was identified as the etiologic agent of swine erysipelas. Infection in man is occupationally related, occurring principally as a result of contact with animals, and mainly found in animal breeders, veterinarians, slaughterhouse workers, and other occupations. Non-occupational cases are very rare. Three forms of human disease have been recognized, including a mild cutaneous infection known as erysipeloid, a diffuse cutaneous form, and a serious although rare systemic complication with septicemia and endocarditis.",感染症,,,Erysipelothrix rhusiopathiae [GN:erh],,,,,"ICD-11: 1B96
 ICD-10: A26
 MeSH: D004887 D013554","PMID:19663854
 著者        Veraldi S, Girgenti V, Dassoni F, Gianotti R
 タイトル      Erysipeloid: a review.
 雑誌        Clin Exp Dermatol 34:859-62 (2009)
 DOI:10.1111/j.1365-2230.2009.03444.x
 PMID:19733019
 著者        Wang Q, Chang BJ, Riley TV
 タイトル      Erysipelothrix rhusiopathiae.
 雑誌        Vet Microbiol 140:405-17 (2010)
 DOI:10.1016/j.vetmic.2009.08.012
 PMID:10482289
 著者        Brooke CJ, Riley TV
 タイトル      Erysipelothrix rhusiopathiae: bacteriology, epidemiology and clinical manifestations of an occupational pathogen.
 雑誌        J Med Microbiol 48:789-99 (1999)
 DOI:10.1099/00222615-48-9-789
 PMID:2680056
 著者        Reboli AC, Farrar WE
 タイトル      Erysipelothrix rhusiopathiae: an occupational pathogen.
 雑誌        Clin Microbiol Rev 2:354-9 (1989)
 DOI:10.1128/cmr.2.4.354","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01315"">H01315</a>","類丹毒;
 豚丹毒","Erysipelothrix rhusiopathiae is a non-sporulating, gram-positive, rod-shaped bacterium which was identified as the etiologic agent of swine erysipelas. Infection in man is occupationally related, occurring principally as a result of contact with animals, and mainly found in animal breeders, veterinarians, slaughterhouse workers, and other occupations. Non-occupational cases are very rare. Three forms of human disease have been recognized, including a mild cutaneous infection known as erysipeloid, a diffuse cutaneous form, and a serious although rare systemic complication with septicemia and endocarditis.",,,"Erysipelothrix rhusiopathiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:erh"">erh</a>]",,,,,"ICD-11: 1B96
 ICD-10: A26
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004887"">D004887</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013554"">D013554</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19663854"">19663854</a>
 著者        Veraldi S, Girgenti V, Dassoni F, Gianotti R
 タイトル      Erysipeloid: a review.
 雑誌        Clin Exp Dermatol 34:859-62 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2230.2009.03444.x"">10.1111/j.1365-2230.2009.03444.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19733019"">19733019</a>
 著者        Wang Q, Chang BJ, Riley TV
 タイトル      Erysipelothrix rhusiopathiae.
 雑誌        Vet Microbiol 140:405-17 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.08.012"">10.1016/j.vetmic.2009.08.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10482289"">10482289</a>
 著者        Brooke CJ, Riley TV
 タイトル      Erysipelothrix rhusiopathiae: bacteriology, epidemiology and clinical manifestations of an occupational pathogen.
 雑誌        J Med Microbiol 48:789-99 (1999)
 DOI:<a href=""https://doi.org/10.1099/00222615-48-9-789"">10.1099/00222615-48-9-789</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2680056"">2680056</a>
 著者        Reboli AC, Farrar WE
 タイトル      Erysipelothrix rhusiopathiae: an occupational pathogen.
 雑誌        Clin Microbiol Rev 2:354-9 (1989)
 DOI:<a href=""https://doi.org/10.1128/cmr.2.4.354"">10.1128/cmr.2.4.354</a>"
H01316,"皮膚糸状菌症;
 白癬",,,"Dermatophytosis (tinea, ringworm) is an infection of keratinized structures, such as the hair, skin or nails caused by dermatophyte fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea capitis, tinea pedis and onychomycosis are common dermatologic diseases that may result from such an infection. Dermatophytes are transmitted by direct contact with infected individuals, animals and soil or by indirect contact with contaminated fomites.",感染症,,,"Trichophyton benhamiae [GN:abe]
 Trichophyton verrucosum [GN:tve]",,,"ミコナゾール硝酸塩 [DR:D00882]
 クロトリマゾール [DR:D00282]
 イソコナゾール硝酸塩 [DR:D01480]
 オキシコナゾール硝酸塩 [DR:D00885]
 酸化亜鉛 [DR:D01170]
 サリチル酸 [DR:D00097]
 ケトコナゾール [DR:D00351]
 スルコナゾール硝酸塩 [DR:D00886]
 ビホナゾール [DR:D01775]
 ルリコナゾール [DR:D01980]
 ラノコナゾール [DR:D01092]
 ネチコナゾール塩酸塩 [DR:D01620]
 テルビナフィン塩酸塩 [DR:D02219]
 アモロルフィン塩酸塩 [DR:D01720]
 トルナフタート [DR:D00381]
 ブテナフィン塩酸塩 [DR:D01093]
 イオウ [DR:D00024]
 リラナフタート [DR:D01550]
 十味敗毒湯 [DR:D06982]
 エフィナコナゾール [DR:D10021]
 ホスラブコナゾールL-リシンエタノール付加物 [DR:D10762]
 イトラコナゾール [DR:D00350]",,"ICD-11: 1F28
 ICD-10: B35
 MeSH: D014005","PMID:7621400
 著者        Weitzman I, Summerbell RC
 タイトル      The dermatophytes.
 雑誌        Clin Microbiol Rev 8:240-59 (1995)
 DOI:10.1128/CMR.8.2.240-259.1995
 PMID:16282753
 著者        Gupta AK, Ryder JE, Chow M, Cooper EA
 タイトル      Dermatophytosis: the management of fungal infections.
 雑誌        Skinmed 4:305-10 (2005)
 DOI:10.1111/j.1540-9740.2005.03435.x
 著者        Schmidt TM (ed).
 タイトル      Encyclopedia of Microbiology (Fourth Edition)
 雑誌        Elsevier (2019)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01316"">H01316</a>","皮膚糸状菌症;
 白癬","Dermatophytosis (tinea, ringworm) is an infection of keratinized structures, such as the hair, skin or nails caused by dermatophyte fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea capitis, tinea pedis and onychomycosis are common dermatologic diseases that may result from such an infection. Dermatophytes are transmitted by direct contact with infected individuals, animals and soil or by indirect contact with contaminated fomites.",,,"Trichophyton benhamiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abe"">abe</a>]
 Trichophyton verrucosum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tve"">tve</a>]",,,"ミコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00882"">D00882</a>]
 クロトリマゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00282"">D00282</a>]
 イソコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01480"">D01480</a>]
 オキシコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00885"">D00885</a>]
 酸化亜鉛 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01170"">D01170</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 ケトコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00351"">D00351</a>]
 スルコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00886"">D00886</a>]
 ビホナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01775"">D01775</a>]
 ルリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01980"">D01980</a>]
 ラノコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01092"">D01092</a>]
 ネチコナゾール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01620"">D01620</a>]
 テルビナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02219"">D02219</a>]
 アモロルフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01720"">D01720</a>]
 トルナフタート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00381"">D00381</a>]
 ブテナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01093"">D01093</a>]
 イオウ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00024"">D00024</a>]
 リラナフタート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01550"">D01550</a>]
 十味敗毒湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06982"">D06982</a>]
 エフィナコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10021"">D10021</a>]
 ホスラブコナゾールL-リシンエタノール付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10762"">D10762</a>]
 イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F28
 ICD-10: B35
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014005"">D014005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7621400"">7621400</a>
 著者        Weitzman I, Summerbell RC
 タイトル      The dermatophytes.
 雑誌        Clin Microbiol Rev 8:240-59 (1995)
 DOI:<a href=""https://doi.org/10.1128/CMR.8.2.240-259.1995"">10.1128/CMR.8.2.240-259.1995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16282753"">16282753</a>
 著者        Gupta AK, Ryder JE, Chow M, Cooper EA
 タイトル      Dermatophytosis: the management of fungal infections.
 雑誌        Skinmed 4:305-10 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1540-9740.2005.03435.x"">10.1111/j.1540-9740.2005.03435.x</a>
 著者        Schmidt TM (ed).
 タイトル      Encyclopedia of Microbiology (Fourth Edition)
 雑誌        Elsevier (2019)"
H01317,侵襲性歯周炎,,,"Aggressive periodontitis is a disease of the periodontium occurring in an otherwise healthy adolescent, which is characterized by a rapid loss of alveolar bone around more than one tooth of the permanent dentition. Because it tends to have a familial aggregation, host predisposition seems to play a key role in the pathogenesis of aggressive periodontitis. It occurs in localized and generalized forms.",感染症,,,"Aggregatibacter actinomycetemcomitans [GN:aat aan]
 Porphyromonas gingivalis",,,,,"ICD-11: DA0C.2
 ICD-10: K05
 MeSH: D010518","PMID:10875695
 タイトル      Parameter on aggressive periodontitis. American Academy of Periodontology.
 雑誌        J Periodontol 71:867-9 (2000)
 DOI:10.1902/jop.2000.71.5-S.867
 PMID:24738584
 著者        Albandar JM
 タイトル      Aggressive periodontitis: case definition and diagnostic criteria.
 雑誌        Periodontol 2000 65:13-26 (2014)
 DOI:10.1111/prd.12014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01317"">H01317</a>",侵襲性歯周炎,"Aggressive periodontitis is a disease of the periodontium occurring in an otherwise healthy adolescent, which is characterized by a rapid loss of alveolar bone around more than one tooth of the permanent dentition. Because it tends to have a familial aggregation, host predisposition seems to play a key role in the pathogenesis of aggressive periodontitis. It occurs in localized and generalized forms.",,,"Aggregatibacter actinomycetemcomitans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aat"">aat</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aan"">aan</a>]
 Porphyromonas gingivalis",,,,,"ICD-11: DA0C.2
 ICD-10: K05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010518"">D010518</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10875695"">10875695</a>
 タイトル      Parameter on aggressive periodontitis. American Academy of Periodontology.
 雑誌        J Periodontol 71:867-9 (2000)
 DOI:<a href=""https://doi.org/10.1902/jop.2000.71.5-S.867"">10.1902/jop.2000.71.5-S.867</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24738584"">24738584</a>
 著者        Albandar JM
 タイトル      Aggressive periodontitis: case definition and diagnostic criteria.
 雑誌        Periodontol 2000 65:13-26 (2014)
 DOI:<a href=""https://doi.org/10.1111/prd.12014"">10.1111/prd.12014</a>"
H01318,"フランベジア;
 いちご腫",,,"Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Yaws is a chronic, relapsing disease predominantly affecting children living in certain tropical regions. Clinical manifestations of yaws are divided into various stages. Early stage skin lesions are infectious and can persist for weeks or months. Involvement of the bones of the upper and lower limbs and the fingers and toes can cause pain and digital swelling. After the early stage lesions subside due to the host immune response, the patient enters a latent stage that can be lifelong.",感染症,,,Treponema pallidum subsp. pertenue [GN:tpc tpg tpm],,,,See also H01530 Pinta and H01531 Bejel.,"ICD-11: 1C1D
 ICD-10: A66
 MeSH: D015001
 MedlinePlus: 001341","PMID:10330597
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:10.1016/S0738-081X(99)00007-3
 PMID:25870417
 著者        Stamm LV
 タイトル      Yaws: 110 years after Castellani's discovery of Treponema pallidum subspecies pertenue.
 雑誌        Am J Trop Med Hyg 93:4-6 (2015)
 DOI:10.4269/ajtmh.15-0147
 PMID:11825779 (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:10.1016/S1286-4579(01)01513-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01318"">H01318</a>","フランベジア;
 いちご腫","Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Yaws is a chronic, relapsing disease predominantly affecting children living in certain tropical regions. Clinical manifestations of yaws are divided into various stages. Early stage skin lesions are infectious and can persist for weeks or months. Involvement of the bones of the upper and lower limbs and the fingers and toes can cause pain and digital swelling. After the early stage lesions subside due to the host immune response, the patient enters a latent stage that can be lifelong.",,,"Treponema pallidum subsp. pertenue [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpc"">tpc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpg"">tpg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpm"">tpm</a>]",,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01530"">H01530</a> Pinta and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01531"">H01531</a> Bejel.","ICD-11: 1C1D
 ICD-10: A66
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015001"">D015001</a>
 MedlinePlus: 001341","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10330597"">10330597</a>
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0738-081X(99)00007-3"">10.1016/S0738-081X(99)00007-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25870417"">25870417</a>
 著者        Stamm LV
 タイトル      Yaws: 110 years after Castellani's discovery of Treponema pallidum subspecies pertenue.
 雑誌        Am J Trop Med Hyg 93:4-6 (2015)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.15-0147"">10.4269/ajtmh.15-0147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11825779"">11825779</a> (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(01)01513-1"">10.1016/S1286-4579(01)01513-1</a>"
H01319,"コクシジオイデス症;
 渓谷熱",,,"Coccidioides immitis and C. posadasii are two endemic dimorphic fungal pathogens that cause coccidioidomycosis, also called ballet fever, and are found in the southwestern United States and northern Mexico. Pulmonary symptoms are the most common features. Nearly all cases of coccidioidal pneumonia are self-limited. Infection is caused by inhalation of spores that aerosolizes from disruptions of the soil.",感染症,,,"Coccidioides immitis [GN:cim]
 Coccidioides posadasii [GN:cpw]",,,ポサコナゾール [DR:D02555],,"ICD-11: 1F25
 ICD-10: B38
 MeSH: D003047
 MedlinePlus: 001322","PMID:30179067
 著者        Kirkland TN, Fierer J
 タイトル      Coccidioides immitis and posadasii; A review of their biology, genomics, pathogenesis, and host immunity.
 雑誌        Virulence 9:1426-1435 (2018)
 DOI:10.1080/21505594.2018.1509667
 PMID:31192818
 著者        Nanayakkara DD, Blodget E
 タイトル      Coccidioidomycosis in solid organ transplant recipients.
 雑誌        Curr Opin Organ Transplant 24:465-468 (2019)
 DOI:10.1097/MOT.0000000000000668","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01319"">H01319</a>","コクシジオイデス症;
 渓谷熱","Coccidioides immitis and C. posadasii are two endemic dimorphic fungal pathogens that cause coccidioidomycosis, also called ballet fever, and are found in the southwestern United States and northern Mexico. Pulmonary symptoms are the most common features. Nearly all cases of coccidioidal pneumonia are self-limited. Infection is caused by inhalation of spores that aerosolizes from disruptions of the soil.",,,"Coccidioides immitis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cim"">cim</a>]
 Coccidioides posadasii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cpw"">cpw</a>]",,,"ポサコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02555"">D02555</a>]",,"ICD-11: 1F25
 ICD-10: B38
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003047"">D003047</a>
 MedlinePlus: 001322","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30179067"">30179067</a>
 著者        Kirkland TN, Fierer J
 タイトル      Coccidioides immitis and posadasii; A review of their biology, genomics, pathogenesis, and host immunity.
 雑誌        Virulence 9:1426-1435 (2018)
 DOI:<a href=""https://doi.org/10.1080/21505594.2018.1509667"">10.1080/21505594.2018.1509667</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31192818"">31192818</a>
 著者        Nanayakkara DD, Blodget E
 タイトル      Coccidioidomycosis in solid organ transplant recipients.
 雑誌        Curr Opin Organ Transplant 24:465-468 (2019)
 DOI:<a href=""https://doi.org/10.1097/MOT.0000000000000668"">10.1097/MOT.0000000000000668</a>"
H01320,"流行性角結膜炎
 上位グループ    アデノウイルス感染症 [DS:H00371]",,,"Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: EKC and pharyngoconjunctival fever (PCF) [DS:H01420], which are caused by different HAdV serotypes. HAdV-8, HAdV-19, and HAdV-37 are common causative agents of EKC. In addition to these above-mentioned types, HAdV-3, HAdV-4, HAdV-7, HAdV-9, HAdV-15, HAdV-53, and HAdV-54 have also been identified as causative agents of EKC. However, HAV-8 is responsible for the highest number of EKC cases worldwide and is associated with severe clinical manifestations. EKC patients may complain about influenza-like symptoms, including fever, malaise, respiratory symptoms, nausea, vomiting, diarrhea, and myalgia. The incubation period is 2-14 days, and the person may remain infectious for 10-14 days after the onset of the symptoms. Symptoms tend to last for 7-21 days.",感染症,,,"Human mastadenovirus B [GN:T40100]
 Human mastadenovirus D [GN:T40102]
 Human mastadenovirus E [GN:T40101]
 Human adenovirus 8, 19, 37",,,,,"ICD-11: 1D84.0
 ICD-10: B30.0
 MeSH: D007639","PMID:25464969
 著者        Adhikary AK, Banik U
 タイトル      Human adenovirus type 8: the major agent of epidemic keratoconjunctivitis (EKC).
 雑誌        J Clin Virol 61:477-86 (2014)
 DOI:10.1016/j.jcv.2014.10.015
 PMID:24678403
 著者        Ghebremedhin B
 タイトル      Human adenovirus: Viral pathogen with increasing importance.
 雑誌        Eur J Microbiol Immunol (Bp) 4:26-33 (2014)
 DOI:10.1556/EuJMI.4.2014.1.2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01320"">H01320</a>","流行性角結膜炎
 上位グループ    アデノウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00371"">H00371</a>]","Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: EKC and pharyngoconjunctival fever (PCF) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01420],"">H01420],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:caused"">caused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:different"">different</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV"">HAdV</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:serotypes."">serotypes.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-8,"">HAdV-8,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-19,"">HAdV-19,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-37"">HAdV-37</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:common"">common</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:causative"">causative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:agents"">agents</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EKC."">EKC.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:In"">In</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:addition"">addition</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:above-mentioned"">above-mentioned</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:types,"">types,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-3,"">HAdV-3,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-4,"">HAdV-4,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-7,"">HAdV-7,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-9,"">HAdV-9,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-15,"">HAdV-15,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-53,"">HAdV-53,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAdV-54"">HAdV-54</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:identified"">identified</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:causative"">causative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:agents"">agents</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EKC."">EKC.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:However,"">However,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HAV-8"">HAV-8</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:responsible"">responsible</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:highest"">highest</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:number"">number</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EKC"">EKC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cases"">cases</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:worldwide"">worldwide</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:associated"">associated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:severe"">severe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical"">clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:manifestations."">manifestations.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EKC"">EKC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:complain"">complain</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:about"">about</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:influenza-like"">influenza-like</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptoms,"">symptoms,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:including"">including</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fever,"">fever,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:malaise,"">malaise,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respiratory"">respiratory</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptoms,"">symptoms,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nausea,"">nausea,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:vomiting,"">vomiting,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diarrhea,"">diarrhea,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:myalgia."">myalgia.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:incubation"">incubation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:period"">period</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:2-14"">2-14</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:days,"">days,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:person"">person</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:remain"">remain</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infectious"">infectious</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:10-14"">10-14</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:days"">days</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:after"">after</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:onset"">onset</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptoms."">symptoms.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Symptoms"">Symptoms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tend"">tend</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:last"">last</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:7-21"">7-21</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:days."">days.</a>",,,"Human mastadenovirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40100"">T40100</a>]
 Human mastadenovirus D [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40102"">T40102</a>]
 Human mastadenovirus E [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40101"">T40101</a>]
 Human adenovirus 8, 19, 37",,,,,"ICD-11: 1D84.0
 ICD-10: B30.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007639"">D007639</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25464969"">25464969</a>
 著者        Adhikary AK, Banik U
 タイトル      Human adenovirus type 8: the major agent of epidemic keratoconjunctivitis (EKC).
 雑誌        J Clin Virol 61:477-86 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jcv.2014.10.015"">10.1016/j.jcv.2014.10.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24678403"">24678403</a>
 著者        Ghebremedhin B
 タイトル      Human adenovirus: Viral pathogen with increasing importance.
 雑誌        Eur J Microbiol Immunol (Bp) 4:26-33 (2014)
 DOI:<a href=""https://doi.org/10.1556/EuJMI.4.2014.1.2"">10.1556/EuJMI.4.2014.1.2</a>"
H01321,"肺炎球菌感染症
 下位グループ    侵襲性肺炎球菌感染症
 非侵襲性肺炎球菌感染症
 肺炎球菌肺炎",,,"Pneumococcal disease (PD) is infectious disease caused by Streptococcus pneumoniae (pneumococcus). PD is particularly common in younger children and in older adults and is roughly divided into invasive and non-invasive disease; the former refers to infections in which the microorganism is isolated from normal sterile body sites, such as the blood or the cerebrospinal fluid. Non-invasive PD can principally be divided into sinusitis, acute otitis media, and community-acquired pneumonia. S. pneumoniae remains the most common bacterial cause of community-acquired pneumonia. The invasive PD burden is mainly determined by pneumococcal meningitis, bacteremic pneumococcal pneumonia, and pneumococcal bacteremia without a primary focus. Incidence and mortality rates of both non-invasive and invasive disease have changed as a result of pneumococcal vaccination in children. However, especially elderly patients with comorbidities remain vulnerable to morbidity and mortality caused by PD.",感染症,,,Streptococcus pneumoniae [GN:spn spd spw spx snd spnn sne spng snp spnm spno],,,"肺炎球菌ワクチン [DR:D08776]
 沈降13価肺炎球菌結合型ワクチン [DR:D10455]",,"ICD-10: A40.3 A49.1
 MeSH: D011008","PMID:24313448
 著者        Drijkoningen JJ, Rohde GG
 タイトル      Pneumococcal infection in adults: burden of disease.
 雑誌        Clin Microbiol Infect 20 Suppl 5:45-51 (2014)
 DOI:10.1111/1469-0691.12461
 PMID:25343039 (description, drug)
 著者        Feldman C, Anderson R
 タイトル      Recent advances in our understanding of Streptococcus pneumoniae infection.
 雑誌        F1000Prime Rep 6:82 (2014)
 DOI:10.12703/P6-82","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01321"">H01321</a>","肺炎球菌感染症
 下位グループ    侵襲性肺炎球菌感染症
 非侵襲性肺炎球菌感染症
 肺炎球菌肺炎","Pneumococcal disease (PD) is infectious disease caused by Streptococcus pneumoniae (pneumococcus). PD is particularly common in younger children and in older adults and is roughly divided into invasive and non-invasive disease; the former refers to infections in which the microorganism is isolated from normal sterile body sites, such as the blood or the cerebrospinal fluid. Non-invasive PD can principally be divided into sinusitis, acute otitis media, and community-acquired pneumonia. S. pneumoniae remains the most common bacterial cause of community-acquired pneumonia. The invasive PD burden is mainly determined by pneumococcal meningitis, bacteremic pneumococcal pneumonia, and pneumococcal bacteremia without a primary focus. Incidence and mortality rates of both non-invasive and invasive disease have changed as a result of pneumococcal vaccination in children. However, especially elderly patients with comorbidities remain vulnerable to morbidity and mortality caused by PD.",,,"Streptococcus pneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spn"">spn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spd"">spd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spw"">spw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spx"">spx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:snd"">snd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spnn"">spnn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sne"">sne</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spng"">spng</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:snp"">snp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spnm"">spnm</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spno"">spno</a>]",,,"肺炎球菌ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08776"">D08776</a>]
 沈降13価肺炎球菌結合型ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10455"">D10455</a>]",,"ICD-10: A40.3 A49.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011008"">D011008</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24313448"">24313448</a>
 著者        Drijkoningen JJ, Rohde GG
 タイトル      Pneumococcal infection in adults: burden of disease.
 雑誌        Clin Microbiol Infect 20 Suppl 5:45-51 (2014)
 DOI:<a href=""https://doi.org/10.1111/1469-0691.12461"">10.1111/1469-0691.12461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25343039"">25343039</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Feldman C, Anderson R
 タイトル      Recent advances in our understanding of Streptococcus pneumoniae infection.
 雑誌        F1000Prime Rep 6:82 (2014)
 DOI:<a href=""https://doi.org/10.12703/P6-82"">10.12703/P6-82</a>"
H01322,"キャサヌル森林病
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV was first isolated 1957 in India.",感染症,,,Kyasanur forest disease virus [GN:T40328],,,,,"ICD-11: 1D4B
 ICD-10: A98.2
 MeSH: D007733","PMID:23110991
 著者        Holbrook MR
 タイトル      Kyasanur forest disease.
 雑誌        Antiviral Res 96:353-62 (2012)
 DOI:10.1016/j.antiviral.2012.10.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01322"">H01322</a>","キャサヌル森林病
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV was first isolated 1957 in India.",,,"Kyasanur forest disease virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40328"">T40328</a>]",,,,,"ICD-11: 1D4B
 ICD-10: A98.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007733"">D007733</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23110991"">23110991</a>
 著者        Holbrook MR
 タイトル      Kyasanur forest disease.
 雑誌        Antiviral Res 96:353-62 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2012.10.005"">10.1016/j.antiviral.2012.10.005</a>"
H01323,"ノロウイルス性腸炎;
 ノロウイルス性胃腸炎;
 流行性嘔吐症",,,"Enteritis due to Norovirus is a major nonbacterial gastroenteritis worldwide. Norovirus is one of five genera of the family Caliciviridae of +ssRNA viruses. Human norovirus, previously known as Norwalk virus, was first identified during an outbreak of gastroenteritis in Norwalk, Ohio, USA.  Noroviruses are currently categorized into at least seven genogroups (GI-GVII) that are further divided into more than 40 genotypes. Genogroup GI, GII, and GIV viruses infect humans. Human Noroviruses are primarily transmitted by the fecal-oral route, either by person-to-person contact, or by ingestion of contaminated food or water. Moreover, they significantly contribute to foodborne diseases.",感染症,,,Norovirus [GN:T40107],,,,,"ICD-11: 1A23
 ICD-10: A08.1
 MedlinePlus: 000252","PMID:25567225
 著者        Robilotti E, Deresinski S, Pinsky BA
 タイトル      Norovirus.
 雑誌        Clin Microbiol Rev 28:134-64 (2015)
 DOI:10.1128/CMR.00075-14
 PMID:31130647
 著者        Villabruna N, Koopmans MPG, de Graaf M
 タイトル      Animals as Reservoir for Human Norovirus.
 雑誌        Viruses 11:E478 (2019)
 DOI:10.3390/v11050478
 PMID:17953089
 著者        Kirsten Mattison, Anu Shukla, Angela Cook, Frank Pollari, Robert Friendship, David Kelton, Sabah Bidawid, Jeffrey M Farber
 タイトル      Human noroviruses in swine and cattle.
 雑誌        Emerg Infect Dis 13:1184-8 (2007)
 DOI:10.3201/eid1308.070005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01323"">H01323</a>","ノロウイルス性腸炎;
 ノロウイルス性胃腸炎;
 流行性嘔吐症","Enteritis due to Norovirus is a major nonbacterial gastroenteritis worldwide. Norovirus is one of five genera of the family Caliciviridae of +ssRNA viruses. Human norovirus, previously known as Norwalk virus, was first identified during an outbreak of gastroenteritis in Norwalk, Ohio, USA.  Noroviruses are currently categorized into at least seven genogroups (GI-GVII) that are further divided into more than 40 genotypes. Genogroup GI, GII, and GIV viruses infect humans. Human Noroviruses are primarily transmitted by the fecal-oral route, either by person-to-person contact, or by ingestion of contaminated food or water. Moreover, they significantly contribute to foodborne diseases.",,,"Norovirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40107"">T40107</a>]",,,,,"ICD-11: 1A23
 ICD-10: A08.1
 MedlinePlus: 000252","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25567225"">25567225</a>
 著者        Robilotti E, Deresinski S, Pinsky BA
 タイトル      Norovirus.
 雑誌        Clin Microbiol Rev 28:134-64 (2015)
 DOI:<a href=""https://doi.org/10.1128/CMR.00075-14"">10.1128/CMR.00075-14</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31130647"">31130647</a>
 著者        Villabruna N, Koopmans MPG, de Graaf M
 タイトル      Animals as Reservoir for Human Norovirus.
 雑誌        Viruses 11:E478 (2019)
 DOI:<a href=""https://doi.org/10.3390/v11050478"">10.3390/v11050478</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17953089"">17953089</a>
 著者        Kirsten Mattison, Anu Shukla, Angela Cook, Frank Pollari, Robert Friendship, David Kelton, Sabah Bidawid, Jeffrey M Farber
 タイトル      Human noroviruses in swine and cattle.
 雑誌        Emerg Infect Dis 13:1184-8 (2007)
 DOI:<a href=""https://doi.org/10.3201/eid1308.070005"">10.3201/eid1308.070005</a>"
H01324,"リンパ球性脈絡髄膜炎
 上位グループ    アレナウイルス性出血熱 [DS:H02173]",,,"Lymphocytic choriomeningitis (LCM) is an infectious disease caused by Lymphocytic choriomeningitis virus (LCMV), an arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LCMV was the first isolated in 1933 in St. Louis, USA.",感染症,,,Lymphocytic choriomeningitis mammarenavirus [GN:T40091],,,,,"ICD-11: 1C8F
 ICD-10: A87.2
 MeSH: D008216","PMID:23202498
 著者        Zhou X, Ramachandran S, Mann M, Popkin DL
 タイトル      Role of lymphocytic choriomeningitis virus (LCMV) in understanding viral immunology: past, present and future.
 雑誌        Viruses 4:2650-69 (2012)
 DOI:10.3390/v4112650","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01324"">H01324</a>","リンパ球性脈絡髄膜炎
 上位グループ    アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Lymphocytic choriomeningitis (LCM) is an infectious disease caused by Lymphocytic choriomeningitis virus (LCMV), an arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LCMV was the first isolated in 1933 in St. Louis, USA.",,,"Lymphocytic choriomeningitis mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40091"">T40091</a>]",,,,,"ICD-11: 1C8F
 ICD-10: A87.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008216"">D008216</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23202498"">23202498</a>
 著者        Zhou X, Ramachandran S, Mann M, Popkin DL
 タイトル      Role of lymphocytic choriomeningitis virus (LCMV) in understanding viral immunology: past, present and future.
 雑誌        Viruses 4:2650-69 (2012)
 DOI:<a href=""https://doi.org/10.3390/v4112650"">10.3390/v4112650</a>"
H01325,放線菌症,,,"Actinomycosis is an uncommon chronic granulomatous infection caused by several members of the order Actinomycetales, most notably, Actinomyces israelii. Additional species that are established but less common causes of actinomycosis include A. naeslundii/viscosus complex, A. odontolyticus, A. meyeri and A. gerencseriae.",感染症,,,"Actinomyces israelii
 Actinomyces naeslundii
 Actinomyces viscosus
 Actinomyces odontolyticus
 Actinomyces meyeri
 Actinomyces gerencseriae",,,"ベンジルペニシリンカリウム [DR:D01053]
 アンピシリン水和物 [DR:D01251]
 アンピシリンナトリウム [DR:D02119]",,"ICD-11: 1C10
 ICD-10: A42
 MeSH: D000196
 MedlinePlus: 000599","PMID:16582679
 著者        Yildiz O, Doganay M
 タイトル      Actinomycoses and Nocardia pulmonary infections.
 雑誌        Curr Opin Pulm Med 12:228-34 (2006)
 DOI:10.1097/01.mcp.0000219273.57933.48
 PMID:25233694
 著者        Vidakovic B, Macan D, Peric B, Spomenka M
 タイトル      Actinomycosis of the cheek.
 雑誌        Srp Arh Celok Lek 142:472-5 (2014)
 DOI:10.2298/SARH1408472V","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01325"">H01325</a>",放線菌症,"Actinomycosis is an uncommon chronic granulomatous infection caused by several members of the order Actinomycetales, most notably, Actinomyces israelii. Additional species that are established but less common causes of actinomycosis include A. naeslundii/viscosus complex, A. odontolyticus, A. meyeri and A. gerencseriae.",,,"Actinomyces israelii
 Actinomyces naeslundii
 Actinomyces viscosus
 Actinomyces odontolyticus
 Actinomyces meyeri
 Actinomyces gerencseriae",,,"ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 アンピシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01251"">D01251</a>]
 アンピシリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02119"">D02119</a>]",,"ICD-11: 1C10
 ICD-10: A42
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000196"">D000196</a>
 MedlinePlus: 000599","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16582679"">16582679</a>
 著者        Yildiz O, Doganay M
 タイトル      Actinomycoses and Nocardia pulmonary infections.
 雑誌        Curr Opin Pulm Med 12:228-34 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mcp.0000219273.57933.48"">10.1097/01.mcp.0000219273.57933.48</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25233694"">25233694</a>
 著者        Vidakovic B, Macan D, Peric B, Spomenka M
 タイトル      Actinomycosis of the cheek.
 雑誌        Srp Arh Celok Lek 142:472-5 (2014)
 DOI:<a href=""https://doi.org/10.2298/SARH1408472V"">10.2298/SARH1408472V</a>"
H01326,"手足口病
 上位グループ    エンテロウイルス感染症 [DS:H00393]",,,"Hand, foot and mouth disease (HFMD) is a common infection among infants and young children caused by certain enteroviruses in the Picornaviridae family of +ssRNA viruses, such as Coxsackievirus A16 and Enterovirus A71. HFMD is generally a benign febrile exanthematous disease, but complications can occur causing meningitis and encephalitis.",感染症,,,"Coxsackievirus A16 [GN:T40331]
 Enterovirus A71 [GN:T40343]",,,,,"ICD-11: 1F05.3
 ICD-10: B08.4
 MeSH: D006232
 MedlinePlus: 000965","PMID:24231751
 著者        Mao Q, Wang Y, Yao X, Bian L, Wu X, Xu M, Liang Z
 タイトル      Coxsackievirus A16: epidemiology, diagnosis, and vaccine.
 雑誌        Hum Vaccin Immunother 10:360-7 (2014)
 DOI:10.4161/hv.27087
 PMID:17671037
 著者        Chen KT, Chang HL, Wang ST, Cheng YT, Yang JY
 タイトル      Epidemiologic features of hand-foot-mouth disease and herpangina caused by enterovirus 71 in Taiwan, 1998-2005.
 雑誌        Pediatrics 120:e244-52 (2007)
 DOI:10.1542/peds.2006-3331
 PMID:20961813
 著者        Solomon T, Lewthwaite P, Perera D, Cardosa MJ, McMinn P, Ooi MH
 タイトル      Virology, epidemiology, pathogenesis, and control of enterovirus 71.
 雑誌        Lancet Infect Dis 10:778-90 (2010)
 DOI:10.1016/S1473-3099(10)70194-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01326"">H01326</a>","手足口病
 上位グループ    エンテロウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>]","Hand, foot and mouth disease (HFMD) is a common infection among infants and young children caused by certain enteroviruses in the Picornaviridae family of +ssRNA viruses, such as Coxsackievirus A16 and Enterovirus A71. HFMD is generally a benign febrile exanthematous disease, but complications can occur causing meningitis and encephalitis.",,,"Coxsackievirus A16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40331"">T40331</a>]
 Enterovirus A71 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40343"">T40343</a>]",,,,,"ICD-11: 1F05.3
 ICD-10: B08.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006232"">D006232</a>
 MedlinePlus: 000965","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24231751"">24231751</a>
 著者        Mao Q, Wang Y, Yao X, Bian L, Wu X, Xu M, Liang Z
 タイトル      Coxsackievirus A16: epidemiology, diagnosis, and vaccine.
 雑誌        Hum Vaccin Immunother 10:360-7 (2014)
 DOI:<a href=""https://doi.org/10.4161/hv.27087"">10.4161/hv.27087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17671037"">17671037</a>
 著者        Chen KT, Chang HL, Wang ST, Cheng YT, Yang JY
 タイトル      Epidemiologic features of hand-foot-mouth disease and herpangina caused by enterovirus 71 in Taiwan, 1998-2005.
 雑誌        Pediatrics 120:e244-52 (2007)
 DOI:<a href=""https://doi.org/10.1542/peds.2006-3331"">10.1542/peds.2006-3331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20961813"">20961813</a>
 著者        Solomon T, Lewthwaite P, Perera D, Cardosa MJ, McMinn P, Ooi MH
 タイトル      Virology, epidemiology, pathogenesis, and control of enterovirus 71.
 雑誌        Lancet Infect Dis 10:778-90 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(10)70194-8"">10.1016/S1473-3099(10)70194-8</a>"
H01327,"ヘルパンギーナ
 上位グループ    エンテロウイルス感染症 [DS:H00393]",,,"Herpangina is a mouth infection caused by coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses, affecting mostly children in summer.",感染症,,,Enterovirus A (Coxsackievirus A) [GN:T40103],,,,,"ICD-11: 1F05.1
 ICD-10: B08.5
 MeSH: D006557
 MedlinePlus: 000969","PMID:17671037
 著者        Chen KT, Chang HL, Wang ST, Cheng YT, Yang JY
 タイトル      Epidemiologic features of hand-foot-mouth disease and herpangina caused by enterovirus 71 in Taiwan, 1998-2005.
 雑誌        Pediatrics 120:e244-52 (2007)
 DOI:10.1542/peds.2006-3331","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01327"">H01327</a>","ヘルパンギーナ
 上位グループ    エンテロウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>]","Herpangina is a mouth infection caused by coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses, affecting mostly children in summer.",,,"Enterovirus A (Coxsackievirus A) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40103"">T40103</a>]",,,,,"ICD-11: 1F05.1
 ICD-10: B08.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006557"">D006557</a>
 MedlinePlus: 000969","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17671037"">17671037</a>
 著者        Chen KT, Chang HL, Wang ST, Cheng YT, Yang JY
 タイトル      Epidemiologic features of hand-foot-mouth disease and herpangina caused by enterovirus 71 in Taiwan, 1998-2005.
 雑誌        Pediatrics 120:e244-52 (2007)
 DOI:<a href=""https://doi.org/10.1542/peds.2006-3331"">10.1542/peds.2006-3331</a>"
H01328,アスペルギルス症,,,"Pulmonary aspergillus infections can be classified based on clinical syndromes into saprophytic infections, allergic disease and invasive disease. Invasive pulmonary aspergillosis, occurring in immunocompromised patients, reflects the most serious disease with a high case-fatality rate. Of the 185 recognized species of Aspergillus, 20 are known to cause infections in humans. Aspergillus fumigatus accounts for about 65 percent of all invasive infections in humans and is the mostly encountered species in pulmonary infections. Aspergillus flavus, Aspergillus niger, Aspergillus terreus and Aspergillus nidulans are less frequently causes of invasive and pulmonary infections.",感染症,,"CLEC1A (susceptibility) [HSA:51267] [KO:K10069]
 CLEC7A (susceptibility) [HSA:64581] [KO:K10074]","Aspergillus fumigatus [GN:afm]
 Aspergillus flavus [GN:afv]
 Aspergillus clavatus [GN:act]",,,"ボリコナゾール [DR:D00578]
 ポサコナゾール [DR:D02555]
 カスポファンギン酢酸塩 [DR:D02501]
 ミカファンギンナトリウム [DR:D02465]
 ミカファンギンナトリウム水和物 [DR:D11010]
 フルシトシン [DR:D00323]",,"ICD-11: 1F20
 ICD-10: B44
 MeSH: D001228
 MedlinePlus: 001326
 OMIM: 614079","PMID:25135079
 著者        Warris A
 タイトル      The biology of pulmonary aspergillus infections.
 雑誌        J Infect 69 Suppl 1:S36-41 (2014)
 DOI:10.1016/j.jinf.2014.07.011
 PMID:29489751 (CLEC1A)
 著者        Stappers MHT, Clark AE, Aimanianda V, Bidula S, Reid DM, Asamaphan P, Hardison SE, Dambuza IM, Valsecchi I, Kerscher B, Plato A, Wallace CA, Yuecel R, Hebecker B, da Gloria Teixeira Sousa M, Cunha C, Liu Y, Feizi T, Brakhage AA, Kwon-Chung KJ, Gow NAR, Zanda M, Piras M, Zanato C, Jaeger M, Netea MG, van de Veerdonk FL, Lacerda JF, Campos A, Carvalho A, Willment JA, Latge JP, Brown GD
 タイトル      Recognition of DHN-melanin by a C-type lectin receptor is required for immunity to Aspergillus.
 雑誌        Nature 555:382-386 (2018)
 DOI:10.1038/nature25974
 PMID:22674328 (CLEC7A)
 著者        Iliev ID, Funari VA, Taylor KD, Nguyen Q, Reyes CN, Strom SP, Brown J, Becker CA, Fleshner PR, Dubinsky M, Rotter JI, Wang HL, McGovern DP, Brown GD, Underhill DM
 タイトル      Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.
 雑誌        Science 336:1314-7 (2012)
 DOI:10.1126/science.1221789","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01328"">H01328</a>",アスペルギルス症,"Pulmonary aspergillus infections can be classified based on clinical syndromes into saprophytic infections, allergic disease and invasive disease. Invasive pulmonary aspergillosis, occurring in immunocompromised patients, reflects the most serious disease with a high case-fatality rate. Of the 185 recognized species of Aspergillus, 20 are known to cause infections in humans. Aspergillus fumigatus accounts for about 65 percent of all invasive infections in humans and is the mostly encountered species in pulmonary infections. Aspergillus flavus, Aspergillus niger, Aspergillus terreus and Aspergillus nidulans are less frequently causes of invasive and pulmonary infections.",,"CLEC1A (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51267"">51267</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10069"">K10069</a>]
 CLEC7A (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64581"">64581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10074"">K10074</a>]","Aspergillus fumigatus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:afm"">afm</a>]
 Aspergillus flavus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:afv"">afv</a>]
 Aspergillus clavatus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:act"">act</a>]",,,"ボリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00578"">D00578</a>]
 ポサコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02555"">D02555</a>]
 カスポファンギン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02501"">D02501</a>]
 ミカファンギンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02465"">D02465</a>]
 ミカファンギンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11010"">D11010</a>]
 フルシトシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00323"">D00323</a>]",,"ICD-11: 1F20
 ICD-10: B44
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001228"">D001228</a>
 MedlinePlus: 001326
 OMIM: <a href=""https://www.omim.org/entry/614079"">614079</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25135079"">25135079</a>
 著者        Warris A
 タイトル      The biology of pulmonary aspergillus infections.
 雑誌        J Infect 69 Suppl 1:S36-41 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jinf.2014.07.011"">10.1016/j.jinf.2014.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29489751"">29489751</a> (CLEC1A)
 著者        Stappers MHT, Clark AE, Aimanianda V, Bidula S, Reid DM, Asamaphan P, Hardison SE, Dambuza IM, Valsecchi I, Kerscher B, Plato A, Wallace CA, Yuecel R, Hebecker B, da Gloria Teixeira Sousa M, Cunha C, Liu Y, Feizi T, Brakhage AA, Kwon-Chung KJ, Gow NAR, Zanda M, Piras M, Zanato C, Jaeger M, Netea MG, van de Veerdonk FL, Lacerda JF, Campos A, Carvalho A, Willment JA, Latge JP, Brown GD
 タイトル      Recognition of DHN-melanin by a C-type lectin receptor is required for immunity to Aspergillus.
 雑誌        Nature 555:382-386 (2018)
 DOI:<a href=""https://doi.org/10.1038/nature25974"">10.1038/nature25974</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22674328"">22674328</a> (CLEC7A)
 著者        Iliev ID, Funari VA, Taylor KD, Nguyen Q, Reyes CN, Strom SP, Brown J, Becker CA, Fleshner PR, Dubinsky M, Rotter JI, Wang HL, McGovern DP, Brown GD, Underhill DM
 タイトル      Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.
 雑誌        Science 336:1314-7 (2012)
 DOI:<a href=""https://doi.org/10.1126/science.1221789"">10.1126/science.1221789</a>"
H01329,パラコクシジオイデス症,,,"Paracoccidioidomycosis is a systemic endemic mycosis caused by Paracoccidioides brasiliensis and Paracoccidioides lutzii, exhibiting geographically restricted distribution from southern Mexico to northern Argentina. Its natural habitat is primarily the soil and the infection is caused by intense and continued contact with the soil. It can affect any organ in the body, but it is primarily involved in the lungs and potentially disseminates to other organs, mainly mucosa and skin.",感染症,,,"Paracoccidioides brasiliensis [GN:pbn]
 Paracoccidioides lutzii [GN:pbl]",,,,,"ICD-11: 1F2E
 ICD-10: B41
 MeSH: D010229","PMID:29685479
 著者        Rosa Junior M, Baldon IV, Amorim AFC, Fonseca APA, Volpato R, Lourenco RB, Baptista RM, de Mello RAF, Pecanha P, Falqueto A
 タイトル      Imaging paracoccidioidomycosis: A pictorial review from head to toe.
 雑誌        Eur J Radiol 103:147-162 (2018)
 DOI:10.1016/j.ejrad.2018.03.026
 PMID:30587784
 著者        de Almeida JN Jr, Pecanha-Pietrobom PM, Colombo AL
 タイトル      Paracoccidioidomycosis in Immunocompromised Patients: A Literature Review.
 雑誌        J Fungi (Basel) 5:E2 (2018)
 DOI:10.3390/jof5010002
 PMID:29204222
 著者        Mendes RP, Cavalcante RS, Marques SA, Marques MEA, Venturini J, Sylvestre TF, Paniago AMM, Pereira AC, da Silva JF, Fabro AT, Bosco SMG, Bagagli E, Hahn RC, Levorato AD
 タイトル      Paracoccidioidomycosis: Current Perspectives from Brazil.
 雑誌        Open Microbiol J 11:224-282 (2017)
 DOI:10.2174/1874285801711010224","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01329"">H01329</a>",パラコクシジオイデス症,"Paracoccidioidomycosis is a systemic endemic mycosis caused by Paracoccidioides brasiliensis and Paracoccidioides lutzii, exhibiting geographically restricted distribution from southern Mexico to northern Argentina. Its natural habitat is primarily the soil and the infection is caused by intense and continued contact with the soil. It can affect any organ in the body, but it is primarily involved in the lungs and potentially disseminates to other organs, mainly mucosa and skin.",,,"Paracoccidioides brasiliensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pbn"">pbn</a>]
 Paracoccidioides lutzii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pbl"">pbl</a>]",,,,,"ICD-11: 1F2E
 ICD-10: B41
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010229"">D010229</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29685479"">29685479</a>
 著者        Rosa Junior M, Baldon IV, Amorim AFC, Fonseca APA, Volpato R, Lourenco RB, Baptista RM, de Mello RAF, Pecanha P, Falqueto A
 タイトル      Imaging paracoccidioidomycosis: A pictorial review from head to toe.
 雑誌        Eur J Radiol 103:147-162 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ejrad.2018.03.026"">10.1016/j.ejrad.2018.03.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30587784"">30587784</a>
 著者        de Almeida JN Jr, Pecanha-Pietrobom PM, Colombo AL
 タイトル      Paracoccidioidomycosis in Immunocompromised Patients: A Literature Review.
 雑誌        J Fungi (Basel) 5:E2 (2018)
 DOI:<a href=""https://doi.org/10.3390/jof5010002"">10.3390/jof5010002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29204222"">29204222</a>
 著者        Mendes RP, Cavalcante RS, Marques SA, Marques MEA, Venturini J, Sylvestre TF, Paniago AMM, Pereira AC, da Silva JF, Fabro AT, Bosco SMG, Bagagli E, Hahn RC, Levorato AD
 タイトル      Paracoccidioidomycosis: Current Perspectives from Brazil.
 雑誌        Open Microbiol J 11:224-282 (2017)
 DOI:<a href=""https://doi.org/10.2174/1874285801711010224"">10.2174/1874285801711010224</a>"
H01330,ブラジル紫斑熱,,,"Brazilian purpuric fever (BPF) is a pediatric disease caused by Haemophilus influenzae biogroup aegyptius (H. aegyptius) and is often fatal. This disease is characterized by purulent conjunctivitis and subsequent acute onset of nausea, vomiting, hemorrhagic skin lesions, fever, prostration, and shock. Vascular destruction is a distinctive trait.",感染症,,,Haemophilus influenzae biogroup aegyptius [GN:hif],,,,,"ICD-11: 1C18
 ICD-10: A48.4
 MeSH: D006192","PMID:3262623
 著者        Brenner DJ, Mayer LW, Carlone GM, Harrison LH, Bibb WF, Brandileone MC, Sottnek FO, Irino K, Reeves MW, Swenson JM, et al.
 タイトル      Biochemical, genetic, and epidemiologic characterization of Haemophilus influenzae biogroup aegyptius (Haemophilus aegyptius) strains associated with Brazilian purpuric fever.
 雑誌        J Clin Microbiol 26:1524-34 (1988)
 DOI:10.1128/JCM.26.8.1524-1534.1988
 PMID:9727086
 著者        Smoot LM, Bell EC, Paz RL, Corbin KA, Hall DD, Steenbergen JN, Harner AC, Actis LA.
 タイトル      Molecular and genetic analysis of iron uptake proteins in the brazilian purpuric fever clone of Haemophilus influenzae biogroup aegyptius.
 雑誌        Front Biosci 3:D989-96 (1998)
 DOI:10.2741/a339
 PMID:21413340
 著者        Musher DM
 タイトル      Haemophilus Species
 雑誌        Medical Microbiology (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01330"">H01330</a>",ブラジル紫斑熱,"Brazilian purpuric fever (BPF) is a pediatric disease caused by Haemophilus influenzae biogroup aegyptius (H. aegyptius) and is often fatal. This disease is characterized by purulent conjunctivitis and subsequent acute onset of nausea, vomiting, hemorrhagic skin lesions, fever, prostration, and shock. Vascular destruction is a distinctive trait.",,,"Haemophilus influenzae biogroup aegyptius [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hif"">hif</a>]",,,,,"ICD-11: 1C18
 ICD-10: A48.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006192"">D006192</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3262623"">3262623</a>
 著者        Brenner DJ, Mayer LW, Carlone GM, Harrison LH, Bibb WF, Brandileone MC, Sottnek FO, Irino K, Reeves MW, Swenson JM, et al.
 タイトル      Biochemical, genetic, and epidemiologic characterization of Haemophilus influenzae biogroup aegyptius (Haemophilus aegyptius) strains associated with Brazilian purpuric fever.
 雑誌        J Clin Microbiol 26:1524-34 (1988)
 DOI:<a href=""https://doi.org/10.1128/JCM.26.8.1524-1534.1988"">10.1128/JCM.26.8.1524-1534.1988</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9727086"">9727086</a>
 著者        Smoot LM, Bell EC, Paz RL, Corbin KA, Hall DD, Steenbergen JN, Harner AC, Actis LA.
 タイトル      Molecular and genetic analysis of iron uptake proteins in the brazilian purpuric fever clone of Haemophilus influenzae biogroup aegyptius.
 雑誌        Front Biosci 3:D989-96 (1998)
 DOI:<a href=""https://doi.org/10.2741/a339"">10.2741/a339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21413340"">21413340</a>
 著者        Musher DM
 タイトル      Haemophilus Species
 雑誌        Medical Microbiology (1996)"
H01331,"齲蝕;
 虫歯",,,"Dental caries occurs due to demineralization of enamel and dentine (the hard tissues of the teeth) by organic acids formed by bacteria in dental plaque through the anaerobic metabolism of sugars derived from the diet. The 2 primary bacteria involved in caries formation are mutans streptococci and lactobacilli. When sugars or other fermentable carbohydrates are ingested, the resulting fall in dental plaque pH caused by organic acids increases the solubility of calcium hydroxyapatite in the dental hard tissues and demineralization occurs as calcium is lost from the tooth surface. The pH at which demineralization occurs is often referred to as the critical pH and is approximately 5.5.",感染症,,,"Streptococcus mutans [GN:smu smc smut smj]
 Cryptobacterium curtum [GN:ccu]
 Lactobacilli",,,"フッ化ナトリウム [DR:D00943]
 フッ化ジアンミン銀 [DR:D01502]",,"ICD-11: DA08.0
 ICD-10: K02
 MedlinePlus: 001055
 MeSH: D003731","PMID:14972061 (description, env_factor, pathogen)
 著者        Moynihan P, Petersen PE
 タイトル      Diet, nutrition and the prevention of dental diseases.
 雑誌        Public Health Nutr 7:201-26 (2004)
 DOI:10.1079/PHN2003589
 PMID:14522753 (description, env_factor, pathogen)
 著者        Touger-Decker R, van Loveren C
 タイトル      Sugars and dental caries.
 雑誌        Am J Clin Nutr 78:881S-892S (2003)
 DOI:10.1093/ajcn/78.4.881S
 PMID:20331803 (pathogen)
 著者        Piwat S, Teanpaisan R, Thitasomakul S, Thearmontree A, Dahlen G
 タイトル      Lactobacillus species and genotypes associated with dental caries in Thai preschool children.
 雑誌        Mol Oral Microbiol 25:157-64 (2010)
 DOI:10.1111/j.2041-1014.2009.00556.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01331"">H01331</a>","齲蝕;
 虫歯","Dental caries occurs due to demineralization of enamel and dentine (the hard tissues of the teeth) by organic acids formed by bacteria in dental plaque through the anaerobic metabolism of sugars derived from the diet. The 2 primary bacteria involved in caries formation are mutans streptococci and lactobacilli. When sugars or other fermentable carbohydrates are ingested, the resulting fall in dental plaque pH caused by organic acids increases the solubility of calcium hydroxyapatite in the dental hard tissues and demineralization occurs as calcium is lost from the tooth surface. The pH at which demineralization occurs is often referred to as the critical pH and is approximately 5.5.",,,"Streptococcus mutans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smu"">smu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smc"">smc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smut"">smut</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smj"">smj</a>]
 Cryptobacterium curtum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ccu"">ccu</a>]
 Lactobacilli",,,"フッ化ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00943"">D00943</a>]
 フッ化ジアンミン銀 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01502"">D01502</a>]",,"ICD-11: DA08.0
 ICD-10: K02
 MedlinePlus: 001055
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003731"">D003731</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14972061"">14972061</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Moynihan P, Petersen PE
 タイトル      Diet, nutrition and the prevention of dental diseases.
 雑誌        Public Health Nutr 7:201-26 (2004)
 DOI:<a href=""https://doi.org/10.1079/PHN2003589"">10.1079/PHN2003589</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14522753"">14522753</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Touger-Decker R, van Loveren C
 タイトル      Sugars and dental caries.
 雑誌        Am J Clin Nutr 78:881S-892S (2003)
 DOI:<a href=""https://doi.org/10.1093/ajcn/78.4.881S"">10.1093/ajcn/78.4.881S</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20331803"">20331803</a> (pathogen)
 著者        Piwat S, Teanpaisan R, Thitasomakul S, Thearmontree A, Dahlen G
 タイトル      Lactobacillus species and genotypes associated with dental caries in Thai preschool children.
 雑誌        Mol Oral Microbiol 25:157-64 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.2041-1014.2009.00556.x"">10.1111/j.2041-1014.2009.00556.x</a>"
H01332,Helicobacter heilmannii 感染,,,"Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats and dogs, from where it can be transmitted to humans. Generally, H. heilmannii infection is associated with mild gastritis. However, association with duodenal ulcer, acute gastric mucosal lesion, and gastric carcinoma have been observed. Also, a close association with low-grade primary gastric mucosa-associated lymphoid tissue (MALT) lymphoma has been described both in humans and in experimental animals.",感染症,,,Helicobacter heilmannii [GN:hhm],,,,,MeSH: D016481,"PMID:15982214
 著者        Okiyama Y, Matsuzawa K, Hidaka E, Sano K, Akamatsu T, Ota H
 タイトル      Helicobacter heilmannii infection: clinical, endoscopic and histopathological features in Japanese patients.
 雑誌        Pathol Int 55:398-404 (2005)
 DOI:10.1111/j.1440-1827.2005.01844.x
 PMID:22653899
 著者        Iwanczak B, Biernat M, Iwanczak F, Grabinska J, Matusiewicz K, Gosciniak G
 タイトル      The clinical aspects of Helicobacter heilmannii infection in children with dyspeptic symptoms.
 雑誌        J Physiol Pharmacol 63:133-6 (2012)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01332"">H01332</a>",Helicobacter heilmannii 感染,"Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats and dogs, from where it can be transmitted to humans. Generally, H. heilmannii infection is associated with mild gastritis. However, association with duodenal ulcer, acute gastric mucosal lesion, and gastric carcinoma have been observed. Also, a close association with low-grade primary gastric mucosa-associated lymphoid tissue (MALT) lymphoma has been described both in humans and in experimental animals.",,,"Helicobacter heilmannii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hhm"">hhm</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016481"">D016481</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15982214"">15982214</a>
 著者        Okiyama Y, Matsuzawa K, Hidaka E, Sano K, Akamatsu T, Ota H
 タイトル      Helicobacter heilmannii infection: clinical, endoscopic and histopathological features in Japanese patients.
 雑誌        Pathol Int 55:398-404 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1827.2005.01844.x"">10.1111/j.1440-1827.2005.01844.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22653899"">22653899</a>
 著者        Iwanczak B, Biernat M, Iwanczak F, Grabinska J, Matusiewicz K, Gosciniak G
 タイトル      The clinical aspects of Helicobacter heilmannii infection in children with dyspeptic symptoms.
 雑誌        J Physiol Pharmacol 63:133-6 (2012)"
H01333,非アルコール性脂肪肝疾患,,,"It has been reported that those patients with non-alcoholic fatty liver disease (NAFLD) are probably more common in those individuals with metabolic syndrome, which includes obesity and type 2 diabetes mellitus. The spectrum of NAFLD ranges from simple steatosis to steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepatitis (NASH). Of those with NASH, approximately 20% will go on to develop cirrhosis and hepatocellular carcinoma.",代謝疾患; 内分泌系疾患,,PNPLA3(polymorphism) [HSA:80339] [KO:K13534],,,,,,"ICD-11: DB92
 ICD-10: K75.8 K76.0","PMID:20373368
 著者        Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, Nobili V, Mozzi E, Roviaro G, Vanni E, Bugianesi E, Maggioni M, Fracanzani AL, Fargion S, Day CP
 タイトル      Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.
 雑誌        Hepatology 51:1209-17 (2010)
 DOI:10.1002/hep.23622
 PMID:20684021
 著者        Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ
 タイトル      The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease.
 雑誌        Hepatology 52:894-903 (2010)
 DOI:10.1002/hep.23759
 PMID:20648472
 著者        Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN
 タイトル      PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
 雑誌        Hepatology 52:904-12 (2010)
 DOI:10.1002/hep.23768","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01333"">H01333</a>",非アルコール性脂肪肝疾患,"It has been reported that those patients with non-alcoholic fatty liver disease (NAFLD) are probably more common in those individuals with metabolic syndrome, which includes obesity and type 2 diabetes mellitus. The spectrum of NAFLD ranges from simple steatosis to steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepatitis (NASH). Of those with NASH, approximately 20% will go on to develop cirrhosis and hepatocellular carcinoma.",,"PNPLA3(polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80339"">80339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13534"">K13534</a>]",,,,,,"ICD-11: DB92
 ICD-10: K75.8 K76.0","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20373368"">20373368</a>
 著者        Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, Nobili V, Mozzi E, Roviaro G, Vanni E, Bugianesi E, Maggioni M, Fracanzani AL, Fargion S, Day CP
 タイトル      Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.
 雑誌        Hepatology 51:1209-17 (2010)
 DOI:<a href=""https://doi.org/10.1002/hep.23622"">10.1002/hep.23622</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20684021"">20684021</a>
 著者        Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ
 タイトル      The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease.
 雑誌        Hepatology 52:894-903 (2010)
 DOI:<a href=""https://doi.org/10.1002/hep.23759"">10.1002/hep.23759</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20648472"">20648472</a>
 著者        Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN
 タイトル      PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
 雑誌        Hepatology 52:904-12 (2010)
 DOI:<a href=""https://doi.org/10.1002/hep.23768"">10.1002/hep.23768</a>"
H01334,癜風,,,"Tinea versicolor, also known as pityriasis versicolor, dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including humans.
 Patients with tinea versicolor most commonly have multiple macules or patches on the trunk, with skip regions of normal skin in between.
 In addition, it is estimated that these species cause most skin disease in humans, including the most common cause of atopic dermatitis and seborrhoeic dermatitis.",感染症,,,"Malassezia globosa [GN:mgl]
 Malassezia furfur",,,"ミコナゾール硝酸塩 [DR:D00882]
 クロトリマゾール [DR:D00282]
 イソコナゾール硝酸塩 [DR:D01480]
 オキシコナゾール硝酸塩 [DR:D00885]
 サリチル酸 [DR:D00097]
 ケトコナゾール [DR:D00351]
 スルコナゾール硝酸塩 [DR:D00886]
 ビホナゾール [DR:D01775]
 ルリコナゾール [DR:D01980]
 ラノコナゾール [DR:D01092]
 ネチコナゾール塩酸塩 [DR:D01620]
 テルビナフィン塩酸塩 [DR:D02219]
 アモロルフィン塩酸塩 [DR:D01720]
 トルナフタート [DR:D00381]
 ブテナフィン塩酸塩 [DR:D01093]
 イトラコナゾール [DR:D00350]",,"ICD-11: 1F2D.0
 ICD-10: B36.0
 MeSH: D014010
 MedlinePlus: 001465","PMID:16463088 (description
 pathogen)
 著者        Morishita N, Sei Y, Sugita T
 タイトル      Molecular analysis of malassezia microflora from patients with pityriasis versicolor.
 雑誌        Mycopathologia 161:61-5 (2006)
 DOI:10.1007/s11046-005-0149-4
 PMID:9762812
 著者        Sunenshine PJ, Schwartz RA, Janniger CK
 タイトル      Tinea versicolor.
 雑誌        Int J Dermatol 37:648-55 (1998)
 DOI:10.1046/j.1365-4362.1998.00441.x
 PMID:21114623 (drug)
 著者        Kim D, Lim YR, Ohk SO, Kim BJ, Chun YJ
 タイトル      Functional expression and characterization of CYP51 from dandruff-causing Malassezia globosa.
 雑誌        FEMS Yeast Res 11:80-7 (2011)
 DOI:10.1111/j.1567-1364.2010.00692.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01334"">H01334</a>",癜風,"Tinea versicolor, also known as pityriasis versicolor, dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including humans.
 Patients with tinea versicolor most commonly have multiple macules or patches on the trunk, with skip regions of normal skin in between.
 In addition, it is estimated that these species cause most skin disease in humans, including the most common cause of atopic dermatitis and seborrhoeic dermatitis.",,,"Malassezia globosa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgl"">mgl</a>]
 Malassezia furfur",,,"ミコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00882"">D00882</a>]
 クロトリマゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00282"">D00282</a>]
 イソコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01480"">D01480</a>]
 オキシコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00885"">D00885</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 ケトコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00351"">D00351</a>]
 スルコナゾール硝酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00886"">D00886</a>]
 ビホナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01775"">D01775</a>]
 ルリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01980"">D01980</a>]
 ラノコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01092"">D01092</a>]
 ネチコナゾール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01620"">D01620</a>]
 テルビナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02219"">D02219</a>]
 アモロルフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01720"">D01720</a>]
 トルナフタート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00381"">D00381</a>]
 ブテナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01093"">D01093</a>]
 イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F2D.0
 ICD-10: B36.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014010"">D014010</a>
 MedlinePlus: 001465","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16463088"">16463088</a> (description
 pathogen)
 著者        Morishita N, Sei Y, Sugita T
 タイトル      Molecular analysis of malassezia microflora from patients with pityriasis versicolor.
 雑誌        Mycopathologia 161:61-5 (2006)
 DOI:<a href=""https://doi.org/10.1007/s11046-005-0149-4"">10.1007/s11046-005-0149-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9762812"">9762812</a>
 著者        Sunenshine PJ, Schwartz RA, Janniger CK
 タイトル      Tinea versicolor.
 雑誌        Int J Dermatol 37:648-55 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1365-4362.1998.00441.x"">10.1046/j.1365-4362.1998.00441.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21114623"">21114623</a> (drug)
 著者        Kim D, Lim YR, Ohk SO, Kim BJ, Chun YJ
 タイトル      Functional expression and characterization of CYP51 from dandruff-causing Malassezia globosa.
 雑誌        FEMS Yeast Res 11:80-7 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1567-1364.2010.00692.x"">10.1111/j.1567-1364.2010.00692.x</a>"
H01335,Photorhabdus asymbiotica 感染,,,"Photorhabdus are Gram-negative nematode-symbiotic and insect-pathogenic bacteria. The species Photorhabdus asymbiotica can infect humans as well as insects. P. asymbiotica causes both locally invasive soft tissue infection and disseminated disease with bacteraemia. At present, there are 2 recognized subspecies, P. asymbiotica subsp. asymbiotica and P. asymbiotica subsp. australis.",感染症,,,Photorhabdus asymbiotica,,,,,,"PMID:19583835
 著者        Wilkinson P, Waterfield NR, Crossman L, Corton C, Sanchez-Contreras M, Vlisidou I, Barron A, Bignell A, Clark L, Ormond D, Mayho M, Bason N, Smith F, Simmonds M, Churcher C, Harris D, Thompson NR, Quail M, Parkhill J, Ffrench-Constant RH
 タイトル      Comparative genomics of the emerging human pathogen Photorhabdus asymbiotica with the insect pathogen Photorhabdus luminescens.
 雑誌        BMC Genomics 10:302 (2009)
 DOI:10.1186/1471-2164-10-302
 PMID:17176572
 著者        Gerrard JG, Joyce SA, Clarke DJ, ffrench-Constant RH, Nimmo GR, Looke DF, Feil EJ, Pearce L, Waterfield NR
 タイトル      Nematode symbiont for Photorhabdus asymbiotica.
 雑誌        Emerg Infect Dis 12:1562-4 (2006)
 DOI:10.3201/eid1210.060464
 PMID:18538616
 著者        Kuwata R, Yoshiga T, Yoshida M, Kondo E
 タイトル      Mutualistic association of Photorhabdus asymbiotica with Japanese heterorhabditid entomopathogenic nematodes.
 雑誌        Microbes Infect 10:734-41 (2008)
 DOI:10.1016/j.micinf.2008.03.010
 PMID:27726002
 著者        Hapeshi A, Waterfield NR
 タイトル      Photorhabdus asymbiotica as an Insect and Human Pathogen.
 雑誌        Curr Top Microbiol Immunol 402:159-177 (2017)
 DOI:10.1007/82_2016_29","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01335"">H01335</a>",Photorhabdus asymbiotica 感染,"Photorhabdus are Gram-negative nematode-symbiotic and insect-pathogenic bacteria. The species Photorhabdus asymbiotica can infect humans as well as insects. P. asymbiotica causes both locally invasive soft tissue infection and disseminated disease with bacteraemia. At present, there are 2 recognized subspecies, P. asymbiotica subsp. asymbiotica and P. asymbiotica subsp. australis.",,,Photorhabdus asymbiotica,,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19583835"">19583835</a>
 著者        Wilkinson P, Waterfield NR, Crossman L, Corton C, Sanchez-Contreras M, Vlisidou I, Barron A, Bignell A, Clark L, Ormond D, Mayho M, Bason N, Smith F, Simmonds M, Churcher C, Harris D, Thompson NR, Quail M, Parkhill J, Ffrench-Constant RH
 タイトル      Comparative genomics of the emerging human pathogen Photorhabdus asymbiotica with the insect pathogen Photorhabdus luminescens.
 雑誌        BMC Genomics 10:302 (2009)
 DOI:<a href=""https://doi.org/10.1186/1471-2164-10-302"">10.1186/1471-2164-10-302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17176572"">17176572</a>
 著者        Gerrard JG, Joyce SA, Clarke DJ, ffrench-Constant RH, Nimmo GR, Looke DF, Feil EJ, Pearce L, Waterfield NR
 タイトル      Nematode symbiont for Photorhabdus asymbiotica.
 雑誌        Emerg Infect Dis 12:1562-4 (2006)
 DOI:<a href=""https://doi.org/10.3201/eid1210.060464"">10.3201/eid1210.060464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18538616"">18538616</a>
 著者        Kuwata R, Yoshiga T, Yoshida M, Kondo E
 タイトル      Mutualistic association of Photorhabdus asymbiotica with Japanese heterorhabditid entomopathogenic nematodes.
 雑誌        Microbes Infect 10:734-41 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2008.03.010"">10.1016/j.micinf.2008.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27726002"">27726002</a>
 著者        Hapeshi A, Waterfield NR
 タイトル      Photorhabdus asymbiotica as an Insect and Human Pathogen.
 雑誌        Curr Top Microbiol Immunol 402:159-177 (2017)
 DOI:<a href=""https://doi.org/10.1007/82_2016_29"">10.1007/82_2016_29</a>"
H01336,Encephalitozoon 感染,,,"The genus Encephalitozoon are spore-forming obligate intracellular microsporidian parasites that infect a wide range of organisms, including protists, invertebrates, humans, and many other vertebrates and known as opportunistic pathogen associated with immunocompromised individuals. Major symptoms include a life-threatening chronic diarrhea and systemic disease. The transmission routes may involve person-to-person as well as waterborne or foodborne, especially in developing countries with poor sanitation. E. intestinalis is recognized as one of the most frequently identified microsporidia in humans.",感染症,,,"Encephalitozoon cuniculi [GN:ecu]
 Encephalitozoon intestinalis [GN:ein]",,,,,"ICD-11: 1F58
 ICD-10: B60.8
 MeSH: D016890","PMID:11719806
 著者        Katinka MD, Duprat S, Cornillot E, Metenier G, Thomarat F, Prensier G, Barbe V, Peyretaillade E, Brottier P, Wincker P, Delbac F, El Alaoui H, Peyret P, Saurin W, Gouy M, Weissenbach J, Vivares CP.
 タイトル      Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi.
 雑誌        Nature 414:450-3 (2001)
 DOI:10.1038/35106579
 PMID:22496910
 著者        Ojuromi OT, Izquierdo F, Fenoy S, Fagbenro-Beyioku A, Oyibo W, Akanmu A, Odunukwe N, Henriques-Gil N, del Aguila C
 タイトル      Identification and characterization of microsporidia from fecal samples of HIV-positive patients from Lagos, Nigeria.
 雑誌        PLoS One 7:e35239 (2012)
 DOI:10.1371/journal.pone.0035239
 PMID:22824062
 著者        Velasquez JN, Chertcoff AV, Etchart C, di Risio C, Sodre FC, Cucher MA, Carnevale S
 タイトル      First case report of infection caused by Encephalitozoon intestinalis in a domestic cat and a patient with AIDS.
 雑誌        Vet Parasitol 190:583-6 (2012)
 DOI:10.1016/j.vetpar.2012.06.034
 PMID:20865802
 著者        Corradi N, Pombert JF, Farinelli L, Didier ES, Keeling PJ
 タイトル      The complete sequence of the smallest known nuclear genome from the microsporidian Encephalitozoon intestinalis.
 雑誌        Nat Commun 1:77 (2010)
 DOI:10.1038/ncomms1082","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01336"">H01336</a>",Encephalitozoon 感染,"The genus Encephalitozoon are spore-forming obligate intracellular microsporidian parasites that infect a wide range of organisms, including protists, invertebrates, humans, and many other vertebrates and known as opportunistic pathogen associated with immunocompromised individuals. Major symptoms include a life-threatening chronic diarrhea and systemic disease. The transmission routes may involve person-to-person as well as waterborne or foodborne, especially in developing countries with poor sanitation. E. intestinalis is recognized as one of the most frequently identified microsporidia in humans.",,,"Encephalitozoon cuniculi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ecu"">ecu</a>]
 Encephalitozoon intestinalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ein"">ein</a>]",,,,,"ICD-11: 1F58
 ICD-10: B60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016890"">D016890</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11719806"">11719806</a>
 著者        Katinka MD, Duprat S, Cornillot E, Metenier G, Thomarat F, Prensier G, Barbe V, Peyretaillade E, Brottier P, Wincker P, Delbac F, El Alaoui H, Peyret P, Saurin W, Gouy M, Weissenbach J, Vivares CP.
 タイトル      Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi.
 雑誌        Nature 414:450-3 (2001)
 DOI:<a href=""https://doi.org/10.1038/35106579"">10.1038/35106579</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22496910"">22496910</a>
 著者        Ojuromi OT, Izquierdo F, Fenoy S, Fagbenro-Beyioku A, Oyibo W, Akanmu A, Odunukwe N, Henriques-Gil N, del Aguila C
 タイトル      Identification and characterization of microsporidia from fecal samples of HIV-positive patients from Lagos, Nigeria.
 雑誌        PLoS One 7:e35239 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0035239"">10.1371/journal.pone.0035239</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22824062"">22824062</a>
 著者        Velasquez JN, Chertcoff AV, Etchart C, di Risio C, Sodre FC, Cucher MA, Carnevale S
 タイトル      First case report of infection caused by Encephalitozoon intestinalis in a domestic cat and a patient with AIDS.
 雑誌        Vet Parasitol 190:583-6 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.vetpar.2012.06.034"">10.1016/j.vetpar.2012.06.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20865802"">20865802</a>
 著者        Corradi N, Pombert JF, Farinelli L, Didier ES, Keeling PJ
 タイトル      The complete sequence of the smallest known nuclear genome from the microsporidian Encephalitozoon intestinalis.
 雑誌        Nat Commun 1:77 (2010)
 DOI:<a href=""https://doi.org/10.1038/ncomms1082"">10.1038/ncomms1082</a>"
H01337,Laribacter hongkongensis 感染,,,"Laribacter hongkongensis is a facultatively anaerobic, nonsporulating, gram-negative, spiral rod-shaped bacterium belongs to the Neisseriaceae family of the subclass of Proteobacteria. L. hongkongensis was isolated from the blood and empyema of a cirrhotic patient and associated with freshwater fish-borne gastroenteritis and traveler's diarrhea.",感染症,,,Laribacter hongkongensis HLHK9 [GN:lhk],,,,"Intermediate host: freshwater fish, such as grass carp and bighead carp",,"PMID:11724825
 著者        Yuen KY, Woo PC, Teng JL, Leung KW, Wong MK, Lau SK
 タイトル      Laribacter hongkongensis gen. nov., sp. nov., a novel gram-negative bacterium isolated from a cirrhotic patient with bacteremia and empyema.
 雑誌        J Clin Microbiol 39:4227-32 (2001)
 DOI:10.1128/JCM.39.12.4227-4232.2001
 PMID:19283063
 著者        Woo PC, Lau SK, Tse H, Teng JL, Curreem SO, Tsang AK, Fan RY, Wong GK, Huang Y, Loman NJ, Snyder LA, Cai JJ, Huang JD, Mak W, Pallen MJ, Lok S, Yuen KY
 タイトル      The complete genome and proteome of Laribacter hongkongensis reveal potential mechanisms for adaptations to different temperatures and habitats.
 雑誌        PLoS Genet 5:e1000416 (2009)
 DOI:10.1371/journal.pgen.1000416","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01337"">H01337</a>",Laribacter hongkongensis 感染,"Laribacter hongkongensis is a facultatively anaerobic, nonsporulating, gram-negative, spiral rod-shaped bacterium belongs to the Neisseriaceae family of the subclass of Proteobacteria. L. hongkongensis was isolated from the blood and empyema of a cirrhotic patient and associated with freshwater fish-borne gastroenteritis and traveler's diarrhea.",,,"Laribacter hongkongensis HLHK9 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lhk"">lhk</a>]",,,,"Intermediate host: freshwater fish, such as grass carp and bighead carp",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11724825"">11724825</a>
 著者        Yuen KY, Woo PC, Teng JL, Leung KW, Wong MK, Lau SK
 タイトル      Laribacter hongkongensis gen. nov., sp. nov., a novel gram-negative bacterium isolated from a cirrhotic patient with bacteremia and empyema.
 雑誌        J Clin Microbiol 39:4227-32 (2001)
 DOI:<a href=""https://doi.org/10.1128/JCM.39.12.4227-4232.2001"">10.1128/JCM.39.12.4227-4232.2001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19283063"">19283063</a>
 著者        Woo PC, Lau SK, Tse H, Teng JL, Curreem SO, Tsang AK, Fan RY, Wong GK, Huang Y, Loman NJ, Snyder LA, Cai JJ, Huang JD, Mak W, Pallen MJ, Lok S, Yuen KY
 タイトル      The complete genome and proteome of Laribacter hongkongensis reveal potential mechanisms for adaptations to different temperatures and habitats.
 雑誌        PLoS Genet 5:e1000416 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1000416"">10.1371/journal.pgen.1000416</a>"
H01338,"筋硬化症
 上位グループ    6型コラーゲン関連筋疾患 [DS:H01341]
 先天性筋ジストロフィー [DS:H00590]",,,"Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s the muscles are slender with a firm woody consistency and associated with contractures that restrict range of motion of many joints.",神経系疾患; 筋骨格疾患,,COL6A2 [HSA:1292] [KO:K06238],,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.8
 MeSH: C564968
 OMIM: 255600","PMID:18852439
 著者        Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
 タイトル      Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
 雑誌        Neurology 71:1245-53 (2008)
 DOI:10.1212/01.wnl.0000327611.01687.5e","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01338"">H01338</a>","筋硬化症
 上位グループ    6型コラーゲン関連筋疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s the muscles are slender with a firm woody consistency and associated with contractures that restrict range of motion of many joints.",,"COL6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1292"">1292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]",,,,,,"ICD-11: 8C72.0Y
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564968"">C564968</a>
 OMIM: <a href=""https://www.omim.org/entry/255600"">255600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18852439"">18852439</a>
 著者        Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
 タイトル      Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
 雑誌        Neurology 71:1245-53 (2008)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000327611.01687.5e"">10.1212/01.wnl.0000327611.01687.5e</a>"
H01339,無症候性細菌尿,,,The term asymptomatic bacteriuria is generally used to distinguish colonization from infection and to emphasize that the presence of bacteria at mucosal surfaces does not always cause symptoms and tissue damage. Asymptomatic bacteriuria has been attracting attention as a model to study mechanisms underlying the development of commensalism. Escherichia coli strain 83972 was isolated from the urine of a Swedish patient who was colonized for at least 3 years without displaying clinical signs of a urinary tract infection.,感染症,,,Escherichia coli ABU 83972 [GN:eab],,,,,"ICD-11: GC08.0
 ICD-10: R82.9
 MeSH: D001437
 MedlinePlus: 000520","PMID:20865122
 著者        Zdziarski J, Brzuszkiewicz E, Wullt B, Liesegang H, Biran D, Voigt B, Gronberg-Hernandez J, Ragnarsdottir B, Hecker M, Ron EZ, Daniel R, Gottschalk G, Hacker J, Svanborg C, Dobrindt U
 タイトル      Host imprints on bacterial genomes--rapid, divergent evolution in individual patients.
 雑誌        PLoS Pathog 6:e1001078 (2010)
 DOI:10.1371/journal.ppat.1001078
 PMID:20638202
 著者        Thompson MF, Totsika M, Schembri MA, Mills PC, Seton EJ, Trott DJ
 タイトル      Experimental colonization of the canine urinary tract with the asymptomatic bacteriuria Escherichia coli strain 83972.
 雑誌        Vet Microbiol 147:205-8 (2011)
 DOI:10.1016/j.vetmic.2010.06.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01339"">H01339</a>",無症候性細菌尿,The term asymptomatic bacteriuria is generally used to distinguish colonization from infection and to emphasize that the presence of bacteria at mucosal surfaces does not always cause symptoms and tissue damage. Asymptomatic bacteriuria has been attracting attention as a model to study mechanisms underlying the development of commensalism. Escherichia coli strain 83972 was isolated from the urine of a Swedish patient who was colonized for at least 3 years without displaying clinical signs of a urinary tract infection.,,,"Escherichia coli ABU 83972 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eab"">eab</a>]",,,,,"ICD-11: GC08.0
 ICD-10: R82.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001437"">D001437</a>
 MedlinePlus: 000520","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20865122"">20865122</a>
 著者        Zdziarski J, Brzuszkiewicz E, Wullt B, Liesegang H, Biran D, Voigt B, Gronberg-Hernandez J, Ragnarsdottir B, Hecker M, Ron EZ, Daniel R, Gottschalk G, Hacker J, Svanborg C, Dobrindt U
 タイトル      Host imprints on bacterial genomes--rapid, divergent evolution in individual patients.
 雑誌        PLoS Pathog 6:e1001078 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.ppat.1001078"">10.1371/journal.ppat.1001078</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20638202"">20638202</a>
 著者        Thompson MF, Totsika M, Schembri MA, Mills PC, Seton EJ, Trott DJ
 タイトル      Experimental colonization of the canine urinary tract with the asymptomatic bacteriuria Escherichia coli strain 83972.
 雑誌        Vet Microbiol 147:205-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2010.06.007"">10.1016/j.vetmic.2010.06.007</a>"
H01340,"ベスレムミオパチー
 下位グループ    ベスレムミオパチー 2 型 [DS:H02247]
 上位グループ    6型コラーゲン関連筋疾患 [DS:H01341]
 先天性筋ジストロフィー [DS:H00590]",,,"Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.",神経系疾患; 筋骨格疾患,,"COL6A1 [HSA:1291] [KO:K06238]
 COL6A2 [HSA:1292] [KO:K06238]
 COL6A3 [HSA:1293] [KO:K06238]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.8
 MeSH: C535436
 OMIM: 158810","PMID:20301676
 著者        Lampe AK, Flanigan KM, Bushby KM, Hicks D
 タイトル      Collagen Type VI-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:19949035
 著者        Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L
 タイトル      Autosomal recessive Bethlem myopathy.
 雑誌        Neurology 73:1883-91 (2009)
 DOI:10.1212/WNL.0b013e3181c3fd2a
 PMID:24334769
 著者        Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmuller H, Bushby K, Straub V
 タイトル      Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
 雑誌        Hum Mol Genet 23:2353-63 (2014)
 DOI:10.1093/hmg/ddt637","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01340"">H01340</a>","ベスレムミオパチー
 下位グループ    ベスレムミオパチー 2 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02247"">H02247</a>]
 上位グループ    6型コラーゲン関連筋疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.",,"COL6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1291"">1291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 COL6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1292"">1292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 COL6A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1293"">1293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535436"">C535436</a>
 OMIM: <a href=""https://www.omim.org/entry/158810"">158810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301676"">20301676</a>
 著者        Lampe AK, Flanigan KM, Bushby KM, Hicks D
 タイトル      Collagen Type VI-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19949035"">19949035</a>
 著者        Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L
 タイトル      Autosomal recessive Bethlem myopathy.
 雑誌        Neurology 73:1883-91 (2009)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3181c3fd2a"">10.1212/WNL.0b013e3181c3fd2a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334769"">24334769</a>
 著者        Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmuller H, Bushby K, Straub V
 タイトル      Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
 雑誌        Hum Mol Genet 23:2353-63 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt637"">10.1093/hmg/ddt637</a>"
H01341,"6型コラーゲン関連筋疾患
 下位グループ    ウルリッヒ型先天性筋ジストロフィー [DS:H01778]
 Bethlemミオパチー [DS:H01340]
 筋硬化症 [DS:H01338]
 上位グループ    先天性筋ジストロフィー [DS:H00590]",,,"Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these diseases. Recently, additional phenotypes, autosomal recessive myosclerosis with mutations in COL6A2 have been reported. Collagen VI is an important component of the extracellular matrix which forms a microfibrillar network that is found in close association with the cell and surrounding basement membrane. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint and contractures, and abnormal skin findings.",神経系疾患; 筋骨格疾患,,"COL6A1 [HSA:1291] [KO:K06238]
 COL6A2 [HSA:1292] [KO:K06238]
 COL6A3 [HSA:1293] [KO:K06238]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.8
 MeSH: C537521 C535436 C564968
 OMIM: 254090 158810 255600","PMID:18852439
 著者        Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
 タイトル      Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
 雑誌        Neurology 71:1245-53 (2008)
 DOI:10.1212/01.wnl.0000327611.01687.5e
 PMID:20301676
 著者        Lampe AK, Flanigan KM, Bushby KM, Hicks D
 タイトル      Collagen Type VI-Related Disorders
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>","6型コラーゲン関連筋疾患
 下位グループ    ウルリッヒ型先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01778"">H01778</a>]
 Bethlemミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01340"">H01340</a>]
 筋硬化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01338"">H01338</a>]
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these diseases. Recently, additional phenotypes, autosomal recessive myosclerosis with mutations in COL6A2 have been reported. Collagen VI is an important component of the extracellular matrix which forms a microfibrillar network that is found in close association with the cell and surrounding basement membrane. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint and contractures, and abnormal skin findings.",,"COL6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1291"">1291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 COL6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1292"">1292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 COL6A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1293"">1293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537521"">C537521</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535436"">C535436</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564968"">C564968</a>
 OMIM: <a href=""https://www.omim.org/entry/254090"">254090</a> <a href=""https://www.omim.org/entry/158810"">158810</a> <a href=""https://www.omim.org/entry/255600"">255600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18852439"">18852439</a>
 著者        Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
 タイトル      Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
 雑誌        Neurology 71:1245-53 (2008)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000327611.01687.5e"">10.1212/01.wnl.0000327611.01687.5e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301676"">20301676</a>
 著者        Lampe AK, Flanigan KM, Bushby KM, Hicks D
 タイトル      Collagen Type VI-Related Disorders
 雑誌        GeneReviews (1993)"
H01342,"ツェルウエーガー症候群
 上位グループ    ペルオキシソーム形成異常症 [DS:H00205]
 先天性胆汁酸代謝異常症 [DS:H00628]",,,"Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. This disease is caused by mutation of peroxisomal biogenesis factor (PEX) genes. Due to the deficiency of functional peroxisomes, several metabolite abnormalities are usually found in ZS patients. Typically, patients accumulate C27-bile acid intermediates.",先天性代謝異常症,,"(PBD1A) PEX1 [HSA:5189] [KO:K13338]
 (PBD2A) PEX5 [HSA:5830] [KO:K13342]
 (PBD3A) PEX12 [HSA:5193] [KO:K13345]
 (PBD4A) PEX6 [HSA:5190] [KO:K13339]
 (PBD5A) PEX2 [HSA:5828] [KO:K06664]
 (PBD6A) PEX10 [HSA:5192] [KO:K13346]
 (PBD7A) PEX26 [HSA:55670] [KO:K13340]
 (PBD8A) PEX16 [HSA:9409] [KO:K13335]
 (PBD10A) PEX3 [HSA:8504] [KO:K13336]
 (PBD11A) PEX13 [HSA:5194] [KO:K13344]
 (PBD12A) PEX19 [HSA:5824] [KO:K13337]
 (PBD13A) PEX14 [HSA:5195] [KO:K13343]",,,,,,"ICD-11: 5C57.0
 ICD-10: Q87.8
 MeSH: D015211
 OMIM: 214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887","PMID:15098234
 著者        Wanders RJ
 タイトル      Metabolic and molecular basis of peroxisomal disorders: a review.
 雑誌        Am J Med Genet A 126A:355-75 (2004)
 DOI:10.1002/ajmg.a.20661
 PMID:12169017
 著者        Brosius U, Gartner J
 タイトル      Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.
 雑誌        Cell Mol Life Sci 59:1058-69 (2002)
 DOI:10.1007/s00018-002-8486-7
 PMID:11389485 (PEX1)
 著者        Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
 タイトル      Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
 雑誌        Am J Hum Genet 69:35-48 (2001)
 DOI:10.1086/321265
 PMID:10462504 (PEX5)
 著者        Shimozawa N, Zhang Z, Suzuki Y, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N
 タイトル      Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
 雑誌        Biochem Biophys Res Commun 262:504-8 (1999)
 DOI:10.1006/bbrc.1999.1232
 PMID:9632816 (PEX12)
 著者        Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y
 タイトル      PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
 雑誌        Mol Cell Biol 18:4324-36 (1998)
 DOI:10.1128/MCB.18.7.4324
 PMID:8670792 (PEX6)
 著者        Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ.
 タイトル      The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
 雑誌        EMBO J 15:2914-23 (1996)
 DOI:10.1002/j.1460-2075.1996.tb00654.x
 PMID:14630978 (PEX2)
 著者        Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ
 タイトル      Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
 雑誌        Pediatr Res 55:431-6 (2004)
 DOI:10.1203/01.PDR.0000106862.83469.8D
 PMID:9700193 (PEX10)
 著者        Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y
 タイトル      Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
 雑誌        Hum Mol Genet 7:1399-405 (1998)
 DOI:10.1093/hmg/7.9.1399
 PMID:12851857 (PEX26)
 著者        Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
 雑誌        Am J Hum Genet 73:233-46 (2003)
 DOI:10.1086/377004
 PMID:9837814 (PEX16)
 著者        Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
 雑誌        Am J Hum Genet 63:1622-30 (1998)
 DOI:10.1086/302161
 PMID:10958759 (PEX3)
 著者        Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA
 タイトル      Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
 雑誌        Am J Hum Genet 67:967-75 (2000)
 DOI:10.1086/303071
 PMID:10332040 (PEX13)
 著者        Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N
 タイトル      Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
 雑誌        Hum Mol Genet 8:1077-83 (1999)
 DOI:10.1093/hmg/8.6.1077
 PMID:10051604 (PEX19)
 著者        Matsuzono Y, Kinoshita N, Tamura S, Shimozawa N, Hamasaki M, Ghaedi K, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.
 雑誌        Proc Natl Acad Sci U S A 96:2116-21 (1999)
 DOI:10.1073/pnas.96.5.2116
 PMID:18285423 (PEX14)
 著者        Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D
 タイトル      Identification of a novel PEX14 mutation in Zellweger syndrome.
 雑誌        J Med Genet 45:376-83 (2008)
 DOI:10.1136/jmg.2007.056697","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01342"">H01342</a>","ツェルウエーガー症候群
 上位グループ    ペルオキシソーム形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]
 先天性胆汁酸代謝異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00628"">H00628</a>]","Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. This disease is caused by mutation of peroxisomal biogenesis factor (PEX) genes. Due to the deficiency of functional peroxisomes, several metabolite abnormalities are usually found in ZS patients. Typically, patients accumulate C27-bile acid intermediates.",,"(PBD1A) PEX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5189"">5189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13338"">K13338</a>]
 (PBD2A) PEX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5830"">5830</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13342"">K13342</a>]
 (PBD3A) PEX12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5193"">5193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13345"">K13345</a>]
 (PBD4A) PEX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5190"">5190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13339"">K13339</a>]
 (PBD5A) PEX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5828"">5828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06664"">K06664</a>]
 (PBD6A) PEX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5192"">5192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13346"">K13346</a>]
 (PBD7A) PEX26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55670"">55670</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13340"">K13340</a>]
 (PBD8A) PEX16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9409"">9409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13335"">K13335</a>]
 (PBD10A) PEX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8504"">8504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13336"">K13336</a>]
 (PBD11A) PEX13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5194"">5194</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13344"">K13344</a>]
 (PBD12A) PEX19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5824"">5824</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13337"">K13337</a>]
 (PBD13A) PEX14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5195"">5195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13343"">K13343</a>]",,,,,,"ICD-11: 5C57.0
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015211"">D015211</a>
 OMIM: <a href=""https://www.omim.org/entry/214100"">214100</a> <a href=""https://www.omim.org/entry/214110"">214110</a> <a href=""https://www.omim.org/entry/614859"">614859</a> <a href=""https://www.omim.org/entry/614862"">614862</a> <a href=""https://www.omim.org/entry/614866"">614866</a> <a href=""https://www.omim.org/entry/614870"">614870</a> <a href=""https://www.omim.org/entry/614872"">614872</a> <a href=""https://www.omim.org/entry/614876"">614876</a> <a href=""https://www.omim.org/entry/614882"">614882</a> <a href=""https://www.omim.org/entry/614883"">614883</a> <a href=""https://www.omim.org/entry/614886"">614886</a> <a href=""https://www.omim.org/entry/614887"">614887</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15098234"">15098234</a>
 著者        Wanders RJ
 タイトル      Metabolic and molecular basis of peroxisomal disorders: a review.
 雑誌        Am J Med Genet A 126A:355-75 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20661"">10.1002/ajmg.a.20661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12169017"">12169017</a>
 著者        Brosius U, Gartner J
 タイトル      Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.
 雑誌        Cell Mol Life Sci 59:1058-69 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00018-002-8486-7"">10.1007/s00018-002-8486-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11389485"">11389485</a> (PEX1)
 著者        Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
 タイトル      Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
 雑誌        Am J Hum Genet 69:35-48 (2001)
 DOI:<a href=""https://doi.org/10.1086/321265"">10.1086/321265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10462504"">10462504</a> (PEX5)
 著者        Shimozawa N, Zhang Z, Suzuki Y, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N
 タイトル      Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
 雑誌        Biochem Biophys Res Commun 262:504-8 (1999)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1999.1232"">10.1006/bbrc.1999.1232</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9632816"">9632816</a> (PEX12)
 著者        Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y
 タイトル      PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
 雑誌        Mol Cell Biol 18:4324-36 (1998)
 DOI:<a href=""https://doi.org/10.1128/MCB.18.7.4324"">10.1128/MCB.18.7.4324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8670792"">8670792</a> (PEX6)
 著者        Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ.
 タイトル      The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
 雑誌        EMBO J 15:2914-23 (1996)
 DOI:<a href=""https://doi.org/10.1002/j.1460-2075.1996.tb00654.x"">10.1002/j.1460-2075.1996.tb00654.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14630978"">14630978</a> (PEX2)
 著者        Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ
 タイトル      Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
 雑誌        Pediatr Res 55:431-6 (2004)
 DOI:<a href=""https://doi.org/10.1203/01.PDR.0000106862.83469.8D"">10.1203/01.PDR.0000106862.83469.8D</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9700193"">9700193</a> (PEX10)
 著者        Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y
 タイトル      Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
 雑誌        Hum Mol Genet 7:1399-405 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.9.1399"">10.1093/hmg/7.9.1399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12851857"">12851857</a> (PEX26)
 著者        Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
 雑誌        Am J Hum Genet 73:233-46 (2003)
 DOI:<a href=""https://doi.org/10.1086/377004"">10.1086/377004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9837814"">9837814</a> (PEX16)
 著者        Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
 雑誌        Am J Hum Genet 63:1622-30 (1998)
 DOI:<a href=""https://doi.org/10.1086/302161"">10.1086/302161</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10958759"">10958759</a> (PEX3)
 著者        Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA
 タイトル      Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
 雑誌        Am J Hum Genet 67:967-75 (2000)
 DOI:<a href=""https://doi.org/10.1086/303071"">10.1086/303071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10332040"">10332040</a> (PEX13)
 著者        Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N
 タイトル      Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
 雑誌        Hum Mol Genet 8:1077-83 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.6.1077"">10.1093/hmg/8.6.1077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10051604"">10051604</a> (PEX19)
 著者        Matsuzono Y, Kinoshita N, Tamura S, Shimozawa N, Hamasaki M, Ghaedi K, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y
 タイトル      Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.
 雑誌        Proc Natl Acad Sci U S A 96:2116-21 (1999)
 DOI:<a href=""https://doi.org/10.1073/pnas.96.5.2116"">10.1073/pnas.96.5.2116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18285423"">18285423</a> (PEX14)
 著者        Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D
 タイトル      Identification of a novel PEX14 mutation in Zellweger syndrome.
 雑誌        J Med Genet 45:376-83 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.056697"">10.1136/jmg.2007.056697</a>"
H01343,Pantoea ananatis 感染,,,"Pantoea ananatis, a gram-negative, motile rod belonging to the family Enterobacteriaceae, is known as an emerging phytopathogen infecting a wide range of important crop and forest plants, and has been reported as an occasional clinical isolate. It has been considered a presumptive and opportunistic human pathogen that associated with septicemia following penetrating trauma with plant material, nosocomial infections due to exposure to contaminated hospital materials, and secondary complications of preexisting illnesses.",感染症,,,Pantoea ananatis [GN:plf],,,,,,"PMID:22374951
 著者        De Maayer P, Chan WY, Rezzonico F, Buhlmann A, Venter SN, Blom J, Goesmann A, Frey JE, Smits TH, Duffy B, Coutinho TA
 タイトル      Complete genome sequence of clinical isolate Pantoea ananatis LMG 5342.
 雑誌        J Bacteriol 194:1615-6 (2012)
 DOI:10.1128/JB.06715-11
 PMID:20348253
 著者        De Maayer P, Chan WY, Venter SN, Toth IK, Birch PR, Joubert F, Coutinho TA
 タイトル      Genome sequence of Pantoea ananatis LMG20103, the causative agent of Eucalyptus blight and dieback.
 雑誌        J Bacteriol 192:2936-7 (2010)
 DOI:10.1128/JB.00060-10
 PMID:15365053
 著者        De Baere T, Verhelst R, Labit C, Verschraegen G, Wauters G, Claeys G, Vaneechoutte M
 タイトル      Bacteremic infection with Pantoea ananatis.
 雑誌        J Clin Microbiol 42:4393-5 (2004)
 DOI:10.1128/JCM.42.9.4393-4395.2004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01343"">H01343</a>",Pantoea ananatis 感染,"Pantoea ananatis, a gram-negative, motile rod belonging to the family Enterobacteriaceae, is known as an emerging phytopathogen infecting a wide range of important crop and forest plants, and has been reported as an occasional clinical isolate. It has been considered a presumptive and opportunistic human pathogen that associated with septicemia following penetrating trauma with plant material, nosocomial infections due to exposure to contaminated hospital materials, and secondary complications of preexisting illnesses.",,,"Pantoea ananatis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:plf"">plf</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22374951"">22374951</a>
 著者        De Maayer P, Chan WY, Rezzonico F, Buhlmann A, Venter SN, Blom J, Goesmann A, Frey JE, Smits TH, Duffy B, Coutinho TA
 タイトル      Complete genome sequence of clinical isolate Pantoea ananatis LMG 5342.
 雑誌        J Bacteriol 194:1615-6 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.06715-11"">10.1128/JB.06715-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20348253"">20348253</a>
 著者        De Maayer P, Chan WY, Venter SN, Toth IK, Birch PR, Joubert F, Coutinho TA
 タイトル      Genome sequence of Pantoea ananatis LMG20103, the causative agent of Eucalyptus blight and dieback.
 雑誌        J Bacteriol 192:2936-7 (2010)
 DOI:<a href=""https://doi.org/10.1128/JB.00060-10"">10.1128/JB.00060-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15365053"">15365053</a>
 著者        De Baere T, Verhelst R, Labit C, Verschraegen G, Wauters G, Claeys G, Vaneechoutte M
 タイトル      Bacteremic infection with Pantoea ananatis.
 雑誌        J Clin Microbiol 42:4393-5 (2004)
 DOI:<a href=""https://doi.org/10.1128/JCM.42.9.4393-4395.2004"">10.1128/JCM.42.9.4393-4395.2004</a>"
H01344,"ナイミーヘン染色体不安定症候群
 下位グループ    NBS 様疾患 (NBSLD)
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed symptoms similar to NBS, microcephaly, mental retardation, bird-like face, and short stature. The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks.",免疫系疾患,,"(NBS) NBN (Nibrin) [HSA:4683] [KO:K10867]
 (NBSLD) RAD50 [HSA:10111] [KO:K10866]",,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: D82.8
 MeSH: D049932 C567767
 OMIM: 251260 613078","PMID:22373003 (NBS)
 著者        Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M
 タイトル      Nijmegen breakage syndrome (NBS).
 雑誌        Orphanet J Rare Dis 7:13 (2012)
 DOI:10.1186/1750-1172-7-13
 PMID:19409520 (NBSLD)
 著者        Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T
 タイトル      Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
 雑誌        Am J Hum Genet 84:605-16 (2009)
 DOI:10.1016/j.ajhg.2009.04.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01344"">H01344</a>","ナイミーヘン染色体不安定症候群
 下位グループ    NBS 様疾患 (NBSLD)
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed symptoms similar to NBS, microcephaly, mental retardation, bird-like face, and short stature. The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks.",,"(NBS) NBN (Nibrin) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4683"">4683</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10867"">K10867</a>]
 (NBSLD) RAD50 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10111"">10111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10866"">K10866</a>]",,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: D82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049932"">D049932</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567767"">C567767</a>
 OMIM: <a href=""https://www.omim.org/entry/251260"">251260</a> <a href=""https://www.omim.org/entry/613078"">613078</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22373003"">22373003</a> (NBS)
 著者        Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M
 タイトル      Nijmegen breakage syndrome (NBS).
 雑誌        Orphanet J Rare Dis 7:13 (2012)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-7-13"">10.1186/1750-1172-7-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19409520"">19409520</a> (NBSLD)
 著者        Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T
 タイトル      Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
 雑誌        Am J Hum Genet 84:605-16 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.010"">10.1016/j.ajhg.2009.04.010</a>"
H01345,Providencia stuartii 感染,,,"Providencia is a gram-negative urea-metabolizing bacilli that readily incorporates DNA from other bacteria, enabling it to acquire resistance to a broad spectrum of antibiotics. Providencia stuartii is a bacterium normally found in patients with indwelling urinary catheters, where it causes urinary tract infections. These infections may progress to bacteremia.",感染症,,,Providencia stuartii [GN:psi psx psta],,,,,"ICD-10: B96.4
 MeSH: D011512","PMID:22740665
 著者        Clifford RJ, Hang J, Riley MC, Onmus-Leone F, Kuschner RA, Lesho EP, Waterman PE
 タイトル      Complete genome sequence of Providencia stuartii clinical isolate MRSN 2154.
 雑誌        J Bacteriol 194:3736-7 (2012)
 DOI:10.1128/JB.00615-12","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01345"">H01345</a>",Providencia stuartii 感染,"Providencia is a gram-negative urea-metabolizing bacilli that readily incorporates DNA from other bacteria, enabling it to acquire resistance to a broad spectrum of antibiotics. Providencia stuartii is a bacterium normally found in patients with indwelling urinary catheters, where it causes urinary tract infections. These infections may progress to bacteremia.",,,"Providencia stuartii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:psi"">psi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:psx"">psx</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:psta"">psta</a>]",,,,,"ICD-10: B96.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011512"">D011512</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22740665"">22740665</a>
 著者        Clifford RJ, Hang J, Riley MC, Onmus-Leone F, Kuschner RA, Lesho EP, Waterman PE
 タイトル      Complete genome sequence of Providencia stuartii clinical isolate MRSN 2154.
 雑誌        J Bacteriol 194:3736-7 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.00615-12"">10.1128/JB.00615-12</a>"
H01346,"ブルーム症候群;
 MGRISCE1
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]
 RecQヘリカーゼ欠損症 [DS:H00296]
 小頭症・発育不全および姉妹染色分体交換の増加 [DS:H02492]",,,"Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.",先天奇形,,BLM [HSA:641] [KO:K10901],,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: Q82.8
 MeSH: D001816
 OMIM: 210900","PMID:23543275
 著者        Manthei KA, Keck JL
 タイトル      The BLM dissolvasome in DNA replication and repair.
 雑誌        Cell Mol Life Sci 70:4067-84 (2013)
 DOI:10.1007/s00018-013-1325-1
 PMID:21050475
 著者        Tikoo S, Sengupta S
 タイトル      Time to bloom.
 雑誌        Genome Integr 1:14 (2010)
 DOI:10.1186/2041-9414-1-14
 PMID:19661064
 著者        Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K
 タイトル      Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
 雑誌        J Biol Chem 284:26360-7 (2009)
 DOI:10.1074/jbc.M109.029348
 PMID:23928670
 著者        Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
 タイトル      Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
 雑誌        J Clin Endocrinol Metab 98:3932-8 (2013)
 DOI:10.1210/jc.2013-2491","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01346"">H01346</a>","ブルーム症候群;
 MGRISCE1
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 RecQヘリカーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00296"">H00296</a>]
 小頭症・発育不全および姉妹染色分体交換の増加 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02492"">H02492</a>]","Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.",,"BLM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:641"">641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10901"">K10901</a>]",,,,,Disorder of DNA repair system,"ICD-11: 4A01.31
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001816"">D001816</a>
 OMIM: <a href=""https://www.omim.org/entry/210900"">210900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23543275"">23543275</a>
 著者        Manthei KA, Keck JL
 タイトル      The BLM dissolvasome in DNA replication and repair.
 雑誌        Cell Mol Life Sci 70:4067-84 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00018-013-1325-1"">10.1007/s00018-013-1325-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21050475"">21050475</a>
 著者        Tikoo S, Sengupta S
 タイトル      Time to bloom.
 雑誌        Genome Integr 1:14 (2010)
 DOI:<a href=""https://doi.org/10.1186/2041-9414-1-14"">10.1186/2041-9414-1-14</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19661064"">19661064</a>
 著者        Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K
 タイトル      Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.
 雑誌        J Biol Chem 284:26360-7 (2009)
 DOI:<a href=""https://doi.org/10.1074/jbc.M109.029348"">10.1074/jbc.M109.029348</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23928670"">23928670</a>
 著者        Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
 タイトル      Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
 雑誌        J Clin Endocrinol Metab 98:3932-8 (2013)
 DOI:<a href=""https://doi.org/10.1210/jc.2013-2491"">10.1210/jc.2013-2491</a>"
H01347,"ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.",先天性代謝異常症; ミトコンドリア病,,"(MTTL1) TRNL1 [HSA:4567] [KO:K14228]
 (MTTQ) TRNQ [HSA:4572] [KO:K14223]
 (MTTH) TRNH [HSA:4564] [KO:K14226]
 (MTTK) TRNK [HSA:4566] [KO:K14229]
 (MTTC) TRNC [HSA:4511] [KO:K14222]
 (MTTS1) TRNS1 [HSA:4574] [KO:K14233]
 (MTTS2) TRNS2 [HSA:4575] [KO:K14233]
 (MTTF) TRNF [HSA:4558] [KO:K14231]
 (MTTV) TRNV [HSA:4577] [KO:K14237]
 (MTTW) TRNW [HSA:4578] [KO:K14235]
 (MTND1) ND1 [HSA:4535] [KO:K03878]
 (MTND5) ND5 [HSA:4540] [KO:K03883]
 (MTND6) ND6 [HSA:4541] [KO:K03884]
 (MTCYB) CYTB [HSA:4519] [KO:K00412]",,,,タウリン [DR:D00047],,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: D017241
 OMIM: 540000","PMID:26095523
 著者        El-Hattab AW, Adesina AM, Jones J, Scaglia F
 タイトル      MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
 雑誌        Mol Genet Metab 116:4-12 (2015)
 DOI:10.1016/j.ymgme.2015.06.004
 PMID:9771776
 著者        Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW
 タイトル      MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.
 雑誌        J Neurol Neurosurg Psychiatry 65:512-7 (1998)
 DOI:10.1136/jnnp.65.4.512
 PMID:21944974
 著者        Koga Y, Povalko N, Nishioka J, Katayama K, Yatsuga S, Matsuishi T
 タイトル      Molecular pathology of MELAS and L-arginine effects.
 雑誌        Biochim Biophys Acta 1820:608-14 (2012)
 DOI:10.1016/j.bbagen.2011.09.005
 PMID:20649546
 著者        Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T
 タイトル      MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.
 雑誌        Ann N Y Acad Sci 1201:104-10 (2010)
 DOI:10.1111/j.1749-6632.2010.05624.x
 PMID:21540128 (MTTV)
 著者        Glatz C, D'Aco K, Smith S, Sondheimer N
 タイトル      Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.
 雑誌        Mitochondrion 11:615-9 (2011)
 DOI:10.1016/j.mito.2011.04.003
 PMID:26297375 (MTTW)
 著者        Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y
 タイトル      Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
 雑誌        Acta Neuropathol Commun 3:52 (2015)
 DOI:10.1186/s40478-015-0227-x
 PMID:15466014 (MTND1)
 著者        Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW
 タイトル      Mutations of the mitochondrial ND1 gene as a cause of MELAS.
 雑誌        J Med Genet 41:784-9 (2004)
 DOI:10.1136/jmg.2004.020537
 PMID:9894888 (MTCYB)
 著者        De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schagger H, Van Oost BA, Smeets HJ
 タイトル      A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
 雑誌        Ann Neurol 45:130-3 (1999)
 DOI:10.1002/1531-8249(199901)45:1<130::aid-art21>3.3.co;2-q","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01347"">H01347</a>","ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.",,"(MTTL1) TRNL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4567"">4567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14228"">K14228</a>]
 (MTTQ) TRNQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4572"">4572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14223"">K14223</a>]
 (MTTH) TRNH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4564"">4564</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14226"">K14226</a>]
 (MTTK) TRNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4566"">4566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14229"">K14229</a>]
 (MTTC) TRNC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4511"">4511</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14222"">K14222</a>]
 (MTTS1) TRNS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4574"">4574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14233"">K14233</a>]
 (MTTS2) TRNS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4575"">4575</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14233"">K14233</a>]
 (MTTF) TRNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4558"">4558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14231"">K14231</a>]
 (MTTV) TRNV [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4577"">4577</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14237"">K14237</a>]
 (MTTW) TRNW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4578"">4578</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14235"">K14235</a>]
 (MTND1) ND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4535"">4535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03878"">K03878</a>]
 (MTND5) ND5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4540"">4540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03883"">K03883</a>]
 (MTND6) ND6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4541"">4541</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03884"">K03884</a>]
 (MTCYB) CYTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4519"">4519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00412"">K00412</a>]",,,,"タウリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00047"">D00047</a>]",,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017241"">D017241</a>
 OMIM: <a href=""https://www.omim.org/entry/540000"">540000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26095523"">26095523</a>
 著者        El-Hattab AW, Adesina AM, Jones J, Scaglia F
 タイトル      MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
 雑誌        Mol Genet Metab 116:4-12 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2015.06.004"">10.1016/j.ymgme.2015.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9771776"">9771776</a>
 著者        Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW
 タイトル      MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.
 雑誌        J Neurol Neurosurg Psychiatry 65:512-7 (1998)
 DOI:<a href=""https://doi.org/10.1136/jnnp.65.4.512"">10.1136/jnnp.65.4.512</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21944974"">21944974</a>
 著者        Koga Y, Povalko N, Nishioka J, Katayama K, Yatsuga S, Matsuishi T
 タイトル      Molecular pathology of MELAS and L-arginine effects.
 雑誌        Biochim Biophys Acta 1820:608-14 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbagen.2011.09.005"">10.1016/j.bbagen.2011.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20649546"">20649546</a>
 著者        Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T
 タイトル      MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.
 雑誌        Ann N Y Acad Sci 1201:104-10 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05624.x"">10.1111/j.1749-6632.2010.05624.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21540128"">21540128</a> (MTTV)
 著者        Glatz C, D'Aco K, Smith S, Sondheimer N
 タイトル      Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.
 雑誌        Mitochondrion 11:615-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.mito.2011.04.003"">10.1016/j.mito.2011.04.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26297375"">26297375</a> (MTTW)
 著者        Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y
 タイトル      Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
 雑誌        Acta Neuropathol Commun 3:52 (2015)
 DOI:<a href=""https://doi.org/10.1186/s40478-015-0227-x"">10.1186/s40478-015-0227-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15466014"">15466014</a> (MTND1)
 著者        Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW
 タイトル      Mutations of the mitochondrial ND1 gene as a cause of MELAS.
 雑誌        J Med Genet 41:784-9 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.020537"">10.1136/jmg.2004.020537</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9894888"">9894888</a> (MTCYB)
 著者        De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schagger H, Van Oost BA, Smeets HJ
 タイトル      A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
 雑誌        Ann Neurol 45:130-3 (1999)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(199901)45:"">10.1002/1531-8249(199901)45:</a><a href=""https://doi.org/1<130:"">1<130:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/aid-art21>3.3.co;2-q"">aid-art21>3.3.co;2-q</a>"
H01348,"ミトコンドリアリン酸輸送体欠損症
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia.",先天性代謝異常症,,SLC25A3 [HSA:5250] [KO:K15102],,,,,,"ICD-11: 5C53.30
 ICD-10: G71.3
 MeSH: C563665
 OMIM: 610773","PMID:17273968
 著者        Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W
 タイトル      Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
 雑誌        Am J Hum Genet 80:478-84 (2007)
 DOI:10.1086/511788
 PMID:21763135
 著者        Mayr JA, Zimmermann FA, Horvath R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W
 タイトル      Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.
 雑誌        Neuromuscul Disord 21:803-8 (2011)
 DOI:10.1016/j.nmd.2011.06.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01348"">H01348</a>","ミトコンドリアリン酸輸送体欠損症
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia.",,"SLC25A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5250"">5250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15102"">K15102</a>]",,,,,,"ICD-11: 5C53.30
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563665"">C563665</a>
 OMIM: <a href=""https://www.omim.org/entry/610773"">610773</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273968"">17273968</a>
 著者        Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W
 タイトル      Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
 雑誌        Am J Hum Genet 80:478-84 (2007)
 DOI:<a href=""https://doi.org/10.1086/511788"">10.1086/511788</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21763135"">21763135</a>
 著者        Mayr JA, Zimmermann FA, Horvath R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W
 タイトル      Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.
 雑誌        Neuromuscul Disord 21:803-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2011.06.005"">10.1016/j.nmd.2011.06.005</a>"
H01349,メタクリル酸尿症,,,"Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first stages of life.",先天代謝異常症; ミトコンドリア病,"nt06024  Valine, leucine and isoleucine degradation",HIBCH [HSA:26275] [KO:K05605],,,,,,"ICD-11: 5C50.E
 ICD-10: E71.1
 MeSH: C562803
 OMIM: 250620","PMID:17160907
 著者        Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ
 タイトル      Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
 雑誌        Am J Hum Genet 80:195-9 (2007)
 DOI:10.1086/510725
 PMID:24299452
 著者        Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
 タイトル      HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
 雑誌        Orphanet J Rare Dis 8:188 (2013)
 DOI:10.1186/1750-1172-8-188","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01349"">H01349</a>",メタクリル酸尿症,"Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first stages of life.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","HIBCH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26275"">26275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05605"">K05605</a>]",,,,,,"ICD-11: 5C50.E
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562803"">C562803</a>
 OMIM: <a href=""https://www.omim.org/entry/250620"">250620</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160907"">17160907</a>
 著者        Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ
 タイトル      Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
 雑誌        Am J Hum Genet 80:195-9 (2007)
 DOI:<a href=""https://doi.org/10.1086/510725"">10.1086/510725</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24299452"">24299452</a>
 著者        Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
 タイトル      HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
 雑誌        Orphanet J Rare Dis 8:188 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-188"">10.1186/1750-1172-8-188</a>"
H01350,Morganella morganii 感染,,,"The genera Morganella are gram-negative anaerobic rods and important opportunistic pathogens, which cause a wide variety of nosocomial infections following surgery. Morganella morganii can cause bacteremia and lead to major clinical problems, which are usually associated with common causes of catheter-associated bacteriuria, infections of the urinary and hepatobiliary tracts, wound infection, and septicemia.",感染症,,,Morganella morganii subsp. morganii KT [GN:mmk],,,,,"ICD-10: B96.4
 MeSH: D011512","PMID:23282187
 著者        Chen YT, Peng HL, Shia WC, Hsu FR, Ken CF, Tsao YM, Chen CH, Liu CE, Hsieh MF, Chen HC, Tang CY, Ku TH
 タイトル      Whole-genome sequencing and identification of Morganella morganii KT pathogenicity-related genes.
 雑誌        BMC Genomics 13 Suppl 7:S4 (2012)
 DOI:10.1186/1471-2164-13-S7-S4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01350"">H01350</a>",Morganella morganii 感染,"The genera Morganella are gram-negative anaerobic rods and important opportunistic pathogens, which cause a wide variety of nosocomial infections following surgery. Morganella morganii can cause bacteremia and lead to major clinical problems, which are usually associated with common causes of catheter-associated bacteriuria, infections of the urinary and hepatobiliary tracts, wound infection, and septicemia.",,,"Morganella morganii subsp. morganii KT [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mmk"">mmk</a>]",,,,,"ICD-10: B96.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011512"">D011512</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23282187"">23282187</a>
 著者        Chen YT, Peng HL, Shia WC, Hsu FR, Ken CF, Tsao YM, Chen CH, Liu CE, Hsieh MF, Chen HC, Tang CY, Ku TH
 タイトル      Whole-genome sequencing and identification of Morganella morganii KT pathogenicity-related genes.
 雑誌        BMC Genomics 13 Suppl 7:S4 (2012)
 DOI:<a href=""https://doi.org/10.1186/1471-2164-13-S7-S4"">10.1186/1471-2164-13-S7-S4</a>"
H01351,"家族性痙性失調症
 下位グループ    シャルルヴォア-サグエ型痙性失調症 [DS:H01170]",,,"Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease.",神経変性疾患,,"(SPAX1) VAMP1 [HSA:6843] [KO:K08510]
 (SPAX2) KIF1C [HSA:10749] [KO:K10392]
 (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
 (SPAX4) MTPAP [HSA:55149] [KO:K18060]
 (SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
 (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
 (SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
 (SPAX9) CHP1 [HSA:11261] [KO:K17610]",,,,,"About Spastic ataxia of Charlevoix-Saguenay (SPAX6/ARSACS), please refer to H01170.","ICD-11: 8B44.0
 ICD-10: G11.4
 MeSH: C564815
 OMIM: 108600 611302 611390 613672 614487 270550 617560 618438","PMID:11774073
 著者        Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA
 タイトル      A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.
 雑誌        Am J Hum Genet 70:763-9 (2002)
 DOI:10.1086/338933
 PMID:22958904 (SPAX1)
 著者        Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA
 タイトル      VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
 雑誌        Am J Hum Genet 91:548-52 (2012)
 DOI:10.1016/j.ajhg.2012.07.018
 PMID:24319291 (SPAX2)
 著者        Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S
 タイトル      KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
 雑誌        J Med Genet 51:137-42 (2014)
 DOI:10.1136/jmedgenet-2013-102012
 PMID:16672289 (SPAX3, SPAX6)
 著者        Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B
 タイトル      A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
 雑誌        Brain 129:2332-40 (2006)
 DOI:10.1093/brain/awl110
 PMID:22448145 (SPAX3)
 著者        Bayat V, Thiffault I, Jaiswal M, Tetreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ
 タイトル      Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
 雑誌        PLoS Biol 10:e1001288 (2012)
 DOI:10.1371/journal.pbio.1001288
 PMID:20970105 (SPAX4)
 著者        Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN
 タイトル      Defective mitochondrial mRNA maturation is associated with spastic ataxia.
 雑誌        Am J Hum Genet 87:655-60 (2010)
 DOI:10.1016/j.ajhg.2010.09.013
 PMID:22022284 (SPAX5)
 著者        Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C
 タイトル      Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
 雑誌        PLoS Genet 7:e1002325 (2011)
 DOI:10.1371/journal.pgen.1002325
 PMID:28575651
 著者        Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botia JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H
 タイトル      Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
 雑誌        Am J Hum Genet 100:969-977 (2017)
 DOI:10.1016/j.ajhg.2017.05.009
 PMID:29379881
 著者        Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B
 タイトル      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
 雑誌        Neurol Genet 4:e209 (2018)
 DOI:10.1212/NXG.0000000000000209","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01351"">H01351</a>","家族性痙性失調症
 下位グループ    シャルルヴォア-サグエ型痙性失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01170"">H01170</a>]","Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease.",,"(SPAX1) VAMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6843"">6843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08510"">K08510</a>]
 (SPAX2) KIF1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10749"">10749</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10392"">K10392</a>]
 (SPAX3/ARSAL) MARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:92935"">92935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01874"">K01874</a>]
 (SPAX4) MTPAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55149"">55149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18060"">K18060</a>]
 (SPAX5) AFG3L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10939"">10939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08956"">K08956</a>]
 (SPAX6/ARSACS) SACS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26278"">26278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17592"">K17592</a>]
 (SPAX8) NKX6-2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84504"">84504</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09350"">K09350</a>]
 (SPAX9) CHP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11261"">11261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17610"">K17610</a>]",,,,,"About Spastic ataxia of Charlevoix-Saguenay (SPAX6/ARSACS), please refer to <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01170."">H01170.</a>","ICD-11: 8B44.0
 ICD-10: G11.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564815"">C564815</a>
 OMIM: <a href=""https://www.omim.org/entry/108600"">108600</a> <a href=""https://www.omim.org/entry/611302"">611302</a> <a href=""https://www.omim.org/entry/611390"">611390</a> <a href=""https://www.omim.org/entry/613672"">613672</a> <a href=""https://www.omim.org/entry/614487"">614487</a> <a href=""https://www.omim.org/entry/270550"">270550</a> <a href=""https://www.omim.org/entry/617560"">617560</a> <a href=""https://www.omim.org/entry/618438"">618438</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11774073"">11774073</a>
 著者        Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA
 タイトル      A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.
 雑誌        Am J Hum Genet 70:763-9 (2002)
 DOI:<a href=""https://doi.org/10.1086/338933"">10.1086/338933</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22958904"">22958904</a> (SPAX1)
 著者        Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA
 タイトル      VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
 雑誌        Am J Hum Genet 91:548-52 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.018"">10.1016/j.ajhg.2012.07.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24319291"">24319291</a> (SPAX2)
 著者        Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S
 タイトル      KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
 雑誌        J Med Genet 51:137-42 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102012"">10.1136/jmedgenet-2013-102012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16672289"">16672289</a> (SPAX3, <a href=""https://pubmed.ncbi.nlm.nih.gov/SPAX6)"">SPAX6)</a>
 著者        Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B
 タイトル      A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
 雑誌        Brain 129:2332-40 (2006)
 DOI:<a href=""https://doi.org/10.1093/brain/awl110"">10.1093/brain/awl110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22448145"">22448145</a> (SPAX3)
 著者        Bayat V, Thiffault I, Jaiswal M, Tetreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ
 タイトル      Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
 雑誌        PLoS Biol 10:e1001288 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pbio.1001288"">10.1371/journal.pbio.1001288</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20970105"">20970105</a> (SPAX4)
 著者        Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN
 タイトル      Defective mitochondrial mRNA maturation is associated with spastic ataxia.
 雑誌        Am J Hum Genet 87:655-60 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.013"">10.1016/j.ajhg.2010.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22022284"">22022284</a> (SPAX5)
 著者        Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C
 タイトル      Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
 雑誌        PLoS Genet 7:e1002325 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002325"">10.1371/journal.pgen.1002325</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28575651"">28575651</a>
 著者        Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botia JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H
 タイトル      Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
 雑誌        Am J Hum Genet 100:969-977 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.009"">10.1016/j.ajhg.2017.05.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29379881"">29379881</a>
 著者        Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B
 タイトル      Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
 雑誌        Neurol Genet 4:e209 (2018)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000209"">10.1212/NXG.0000000000000209</a>"
H01352,"ミトコンドリア三頭酵素欠損症
 下位グループ    LCHAD 欠損症 [DS:H00489]
 LCKAT 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Mitochondrial trifunctional protein (TFP) deficiency is a rare autosomal recessive disorder that is caused by mutations in HADHA and HADHB. TFP is a multienzyme complex of the fatty acid beta-oxidation cycle. Human TFP is an octamer composed of four alpha-subunits harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits encoding long-chain 3-ketoacyl-CoA thiolase (LCKAT). This disease includes a lethal neonatal phenotype with cardiomyopathy and Reye-like syndrome, an infantile hepatic phenotype with recurrent hypoketotic hypoglycemia, and a childhood or adolescent-onset neuromyopathic phenotype with peripheral neuropathy and recurrent rhabdomyolysis.",先天性代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,"HADHA [HSA:3030] [KO:K07515]
 HADHB [HSA:3032] [KO:K07509]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C566945
 OMIM: 609015 609016","PMID:14630990
 著者        Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW
 タイトル      General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
 雑誌        Pediatr Res 55:190-6 (2004)
 DOI:10.1203/01.PDR.0000103931.80055.06
 PMID:12621125
 著者        Jones PM, Butt Y, Bennett MJ
 タイトル      Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.
 雑誌        Pediatr Res 53:783-7 (2003)
 DOI:10.1203/01.PDR.0000059748.67987.1F
 PMID:23868323
 著者        Liewluck T, Mundi MS, Mauermann ML
 タイトル      Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
 雑誌        Muscle Nerve 48:989-91 (2013)
 DOI:10.1002/mus.23959
 PMID:9739053
 著者        Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW
 タイトル      Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
 雑誌        J Clin Invest 102:1193-9 (1998)
 DOI:10.1172/JCI2091","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01352"">H01352</a>","ミトコンドリア三頭酵素欠損症
 下位グループ    LCHAD 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00489"">H00489</a>]
 LCKAT 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial trifunctional protein (TFP) deficiency is a rare autosomal recessive disorder that is caused by mutations in HADHA and HADHB. TFP is a multienzyme complex of the fatty acid beta-oxidation cycle. Human TFP is an octamer composed of four alpha-subunits harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits encoding long-chain 3-ketoacyl-CoA thiolase (LCKAT). This disease includes a lethal neonatal phenotype with cardiomyopathy and Reye-like syndrome, an infantile hepatic phenotype with recurrent hypoketotic hypoglycemia, and a childhood or adolescent-onset neuromyopathic phenotype with peripheral neuropathy and recurrent rhabdomyolysis.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","HADHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3030"">3030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07515"">K07515</a>]
 HADHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3032"">3032</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07509"">K07509</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566945"">C566945</a>
 OMIM: <a href=""https://www.omim.org/entry/609015"">609015</a> <a href=""https://www.omim.org/entry/609016"">609016</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14630990"">14630990</a>
 著者        Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW
 タイトル      General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
 雑誌        Pediatr Res 55:190-6 (2004)
 DOI:<a href=""https://doi.org/10.1203/01.PDR.0000103931.80055.06"">10.1203/01.PDR.0000103931.80055.06</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12621125"">12621125</a>
 著者        Jones PM, Butt Y, Bennett MJ
 タイトル      Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.
 雑誌        Pediatr Res 53:783-7 (2003)
 DOI:<a href=""https://doi.org/10.1203/01.PDR.0000059748.67987.1F"">10.1203/01.PDR.0000059748.67987.1F</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23868323"">23868323</a>
 著者        Liewluck T, Mundi MS, Mauermann ML
 タイトル      Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
 雑誌        Muscle Nerve 48:989-91 (2013)
 DOI:<a href=""https://doi.org/10.1002/mus.23959"">10.1002/mus.23959</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9739053"">9739053</a>
 著者        Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW
 タイトル      Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
 雑誌        J Clin Invest 102:1193-9 (1998)
 DOI:<a href=""https://doi.org/10.1172/JCI2091"">10.1172/JCI2091</a>"
H01353,Chromobacterium violaceum 感染,,,"Chromobacterium violaceum is a gram-negative, facultative anaerobic, opportunistic pathogenic bacterium that infects both humans and animals. The major symptoms in most of the cases with fatal results seem to be sepsis, multiple liver abscesses, and diffuse pustular dermatitis. Some studies have reported instances of untreated C. violaceum causing brain abscess and diarrhea. Recent findings indicate that the type III secretion system (T3SS) encoded by Chromobacterium pathogenicity islands 1 and 1a (Cpi-1/-1a) is critical for C. violaceum pathogenesis.",感染症,,,Chromobacterium violaceum ATCC 12472 [GN:cvi],,,,,"ICD-10: A41.5
 MeSH: D016870","PMID:21435035
 著者        Miki T, Akiba K, Iguchi M, Danbara H, Okada N
 タイトル      The Chromobacterium violaceum type III effector CopE, a guanine nucleotide exchange factor for Rac1 and Cdc42, is involved in bacterial invasion of epithelial cells and pathogenesis.
 雑誌        Mol Microbiol 80:1186-203 (2011)
 DOI:10.1111/j.1365-2958.2011.07637.x
 PMID:14500782
 著者        Brazilian National Genome Project Consortium.
 タイトル      The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability.
 雑誌        Proc Natl Acad Sci U S A 100:11660-5 (2003)
 DOI:10.1073/pnas.1832124100
 PMID:23776815
 著者        Kumar MR
 タイトル      Chromobacterium violaceum: A rare bacterium isolated from a wound over the scalp.
 雑誌        Int J Appl Basic Med Res 2:70-2 (2012)
 DOI:10.4103/2229-516X.96814","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01353"">H01353</a>",Chromobacterium violaceum 感染,"Chromobacterium violaceum is a gram-negative, facultative anaerobic, opportunistic pathogenic bacterium that infects both humans and animals. The major symptoms in most of the cases with fatal results seem to be sepsis, multiple liver abscesses, and diffuse pustular dermatitis. Some studies have reported instances of untreated C. violaceum causing brain abscess and diarrhea. Recent findings indicate that the type III secretion system (T3SS) encoded by Chromobacterium pathogenicity islands 1 and 1a (Cpi-1/-1a) is critical for C. violaceum pathogenesis.",,,"Chromobacterium violaceum ATCC 12472 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:cvi"">cvi</a>]",,,,,"ICD-10: A41.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016870"">D016870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21435035"">21435035</a>
 著者        Miki T, Akiba K, Iguchi M, Danbara H, Okada N
 タイトル      The Chromobacterium violaceum type III effector CopE, a guanine nucleotide exchange factor for Rac1 and Cdc42, is involved in bacterial invasion of epithelial cells and pathogenesis.
 雑誌        Mol Microbiol 80:1186-203 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2958.2011.07637.x"">10.1111/j.1365-2958.2011.07637.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14500782"">14500782</a>
 著者        Brazilian National Genome Project Consortium.
 タイトル      The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability.
 雑誌        Proc Natl Acad Sci U S A 100:11660-5 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.1832124100"">10.1073/pnas.1832124100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23776815"">23776815</a>
 著者        Kumar MR
 タイトル      Chromobacterium violaceum: A rare bacterium isolated from a wound over the scalp.
 雑誌        Int J Appl Basic Med Res 2:70-2 (2012)
 DOI:<a href=""https://doi.org/10.4103/2229-516X.96814"">10.4103/2229-516X.96814</a>"
H01354,"リー症候群
 下位グループ    リー症候群 フランス系カナダ人型
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial.",先天性代謝異常症; ミトコンドリア病,,"NDUFS3 [HSA:4722] [KO:K03936]
 NDUFS4 [HSA:4724] [KO:K03937]
 NDUFS7 [HSA:374291] [KO:K03940]
 NDUFS8 [HSA:4728] [KO:K03941]
 NDUFA2 [HSA:4695] [KO:K03946]
 NDUFA9 [HSA:4704] [KO:K03953]
 NDUFA10 [HSA:4705] [KO:K03954]
 NDUFA12 [HSA:55967] [KO:K11352]
 NDUFAF2 [HSA:91942] [KO:K18160]
 NDUFAF6 [HSA:137682] [KO:K18163]
 FOXRED1 [HSA:55572] [KO:K18166]
 SDHA [HSA:6389] [KO:K00234]
 COX10 [HSA:1352] [KO:K02257]
 COX15 [HSA:1355] [KO:K02259]
 SURF1 [HSA:6834] [KO:K14998]
 BCS1L [HSA:617] [KO:K08900]
 TACO1 [HSA:51204] [KO:K18189]
 (LSFC) LRPPRC [HSA:10128] [KO:K17964]",,,,チオクト酸 [DR:D00086],,"ICD-11: 5C53.24
 ICD-10: G31.8
 MeSH: D007888
 OMIM: 256000 220111","PMID:18805359
 著者        Finsterer J
 タイトル      Leigh and Leigh-like syndrome in children and adults.
 雑誌        Pediatr Neurol 39:223-35 (2008)
 DOI:10.1016/j.pediatrneurol.2008.07.013
 PMID:21150889
 著者        Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
 雑誌        Eur J Hum Genet 19:270-4 (2011)
 DOI:10.1038/ejhg.2010.204
 PMID:23389837
 著者        Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S
 タイトル      Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
 雑誌        Sleep Breath 17:1129-35 (2013)
 DOI:10.1007/s11325-013-0816-5
 PMID:19503089
 著者        Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
 タイトル      Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
 雑誌        Nat Genet 41:833-7 (2009)
 DOI:10.1038/ng.390","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01354"">H01354</a>","リー症候群
 下位グループ    リー症候群 フランス系カナダ人型
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial.",,"NDUFS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4722"">4722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03936"">K03936</a>]
 NDUFS4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4724"">4724</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03937"">K03937</a>]
 NDUFS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374291"">374291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03940"">K03940</a>]
 NDUFS8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4728"">4728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03941"">K03941</a>]
 NDUFA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4695"">4695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03946"">K03946</a>]
 NDUFA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4704"">4704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03953"">K03953</a>]
 NDUFA10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4705"">4705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03954"">K03954</a>]
 NDUFA12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55967"">55967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11352"">K11352</a>]
 NDUFAF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91942"">91942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18160"">K18160</a>]
 NDUFAF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137682"">137682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18163"">K18163</a>]
 FOXRED1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55572"">55572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18166"">K18166</a>]
 SDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6389"">6389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00234"">K00234</a>]
 COX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1352"">1352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02257"">K02257</a>]
 COX15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1355"">1355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02259"">K02259</a>]
 SURF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6834"">6834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14998"">K14998</a>]
 BCS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:617"">617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08900"">K08900</a>]
 TACO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51204"">51204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18189"">K18189</a>]
 (LSFC) LRPPRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10128"">10128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17964"">K17964</a>]",,,,"チオクト酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00086"">D00086</a>]",,"ICD-11: 5C53.24
 ICD-10: G31.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007888"">D007888</a>
 OMIM: <a href=""https://www.omim.org/entry/256000"">256000</a> <a href=""https://www.omim.org/entry/220111"">220111</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18805359"">18805359</a>
 著者        Finsterer J
 タイトル      Leigh and Leigh-like syndrome in children and adults.
 雑誌        Pediatr Neurol 39:223-35 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2008.07.013"">10.1016/j.pediatrneurol.2008.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21150889"">21150889</a>
 著者        Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
 タイトル      NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
 雑誌        Eur J Hum Genet 19:270-4 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.204"">10.1038/ejhg.2010.204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23389837"">23389837</a>
 著者        Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S
 タイトル      Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
 雑誌        Sleep Breath 17:1129-35 (2013)
 DOI:<a href=""https://doi.org/10.1007/s11325-013-0816-5"">10.1007/s11325-013-0816-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19503089"">19503089</a>
 著者        Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
 タイトル      Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
 雑誌        Nat Genet 41:833-7 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.390"">10.1038/ng.390</a>"
H01355,"カーンズ・セイアー症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.",先天性代謝異常症,,"MT-ATP6 [HSA:4508] [KO:K02126]
 MT-ATP8 [HSA:4509] [KO:K02125]
 MT-CO3 [HSA:4514] [KO:K02262]
 MT-CYB [HSA:4519] [KO:K00412]
 MT-ND3 [HSA:4537] [KO:K03880]
 MT-ND4 [HSA:4538] [KO:K03881]
 MT-ND4L [HSA:4539] [KO:K03882]
 MT-ND5 [HSA:4540] [KO:K03883]
 MT-ND6 [HSA:4541] [KO:K03884]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.8
 MeSH: D007625
 OMIM: 530000","PMID:23421922
 著者        Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M
 タイトル      A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
 雑誌        BMC Pediatr 13:27 (2013)
 DOI:10.1186/1471-2431-13-27
 PMID:9727847
 著者        Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ
 タイトル      Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.
 雑誌        Eur J Pediatr 157:643-7 (1998)
 DOI:10.1007/s004310050902","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01355"">H01355</a>","カーンズ・セイアー症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.",,"MT-ATP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4508"">4508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02126"">K02126</a>]
 MT-ATP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4509"">4509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02125"">K02125</a>]
 MT-CO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4514"">4514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02262"">K02262</a>]
 MT-CYB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4519"">4519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00412"">K00412</a>]
 MT-ND3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4537"">4537</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03880"">K03880</a>]
 MT-ND4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4538"">4538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03881"">K03881</a>]
 MT-ND4L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4539"">4539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03882"">K03882</a>]
 MT-ND5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4540"">4540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03883"">K03883</a>]
 MT-ND6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4541"">4541</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03884"">K03884</a>]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007625"">D007625</a>
 OMIM: <a href=""https://www.omim.org/entry/530000"">530000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23421922"">23421922</a>
 著者        Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M
 タイトル      A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
 雑誌        BMC Pediatr 13:27 (2013)
 DOI:<a href=""https://doi.org/10.1186/1471-2431-13-27"">10.1186/1471-2431-13-27</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9727847"">9727847</a>
 著者        Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ
 タイトル      Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.
 雑誌        Eur J Pediatr 157:643-7 (1998)
 DOI:<a href=""https://doi.org/10.1007/s004310050902"">10.1007/s004310050902</a>"
H01356,"赤色ぼろ線維・ミオクローヌスてんかん症候群;
 MERRF 症候群;
 福原病
 上位グループ    進行性ミオクローヌスてんかん [DS:H00810]
 ミトコンドリア病 [DS:H01427]",,,"Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy. RRFs are muscle fibers with subsarcolemmal mitochondria that stained red with Gomori trichrome stain. The MERRF syndrome is most commonly caused by the A8344G mutation in the mitochondrial tRNA Lys gene.",先天性代謝異常症; ミトコンドリア病,,"TRNK [HSA:4566] [KO:K14229]
 TRNL1 [HSA:4567] [KO:K14228]
 TRNH [HSA:4564] [KO:K14226]
 TRNS1 [HSA:4574] [KO:K14233]
 TRNS2 [HSA:4575] [KO:K14233]
 TRNI [HSA:4565] [KO:K14227]
 TRNF [HSA:4558] [KO:K14231]
 TRNP [HSA:4571] [KO:K14232]
 MTND5 [HSA:4540] [KO:K03883]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: D017243
 OMIM: 545000","PMID:1910259
 著者        Noer AS, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S
 タイトル      A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
 雑誌        Am J Hum Genet 49:715-22 (1991)
 PMID:24338029
 著者        Liu K, Zhao H, Ji K, Yan C
 タイトル      MERRF/MELAS overlap syndrome due to the m.3291T&gt;C mutation.
 雑誌        Metab Brain Dis 29:139-44 (2014)
 DOI:10.1007/s11011-013-9464-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01356"">H01356</a>","赤色ぼろ線維・ミオクローヌスてんかん症候群;
 MERRF 症候群;
 福原病
 上位グループ    進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy. RRFs are muscle fibers with subsarcolemmal mitochondria that stained red with Gomori trichrome stain. The MERRF syndrome is most commonly caused by the A8344G mutation in the mitochondrial tRNA Lys gene.",,"TRNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4566"">4566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14229"">K14229</a>]
 TRNL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4567"">4567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14228"">K14228</a>]
 TRNH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4564"">4564</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14226"">K14226</a>]
 TRNS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4574"">4574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14233"">K14233</a>]
 TRNS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4575"">4575</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14233"">K14233</a>]
 TRNI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4565"">4565</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14227"">K14227</a>]
 TRNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4558"">4558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14231"">K14231</a>]
 TRNP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4571"">4571</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14232"">K14232</a>]
 MTND5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4540"">4540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03883"">K03883</a>]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017243"">D017243</a>
 OMIM: <a href=""https://www.omim.org/entry/545000"">545000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1910259"">1910259</a>
 著者        Noer AS, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S
 タイトル      A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
 雑誌        Am J Hum Genet 49:715-22 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24338029"">24338029</a>
 著者        Liu K, Zhao H, Ji K, Yan C
 タイトル      MERRF/MELAS overlap syndrome due to the m.3291T&gt;C mutation.
 雑誌        Metab Brain Dis 29:139-44 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11011-013-9464-5"">10.1007/s11011-013-9464-5</a>"
H01357,アレルギー性接触性皮膚炎,,,"Allergic contact dermatitis (ACD) is a T-cell mediated skin inflammation caused by repeated skin exposure to contact allergens. Although regarded as a dermatosis that is typically triggered by environmental factors, ACD may affect certain individuals more easily than others. A higher risk for polysensitization has been found for polymorphism in the TNFA (TNFA-308) and IL-16 (IL-16-295 C/C) genes.",免疫系疾患,,"TNFA (polymorphism) [HSA:712] [KO:K03986]
 IL-16 (polymorphism) [HSA:3603] [KO:K22628]",,"Nickel [CPD:C00291]
 Fragrances
 Cobalt [CPD:C00175]
 Chrominium [CPD:C06268]
 Peru balsam
 Neomycin [CPD:C00384]
 Rubber [CPD:C02321]",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 イブプロフェンピコノール [DR:D01122]
 スプロフェン [DR:D00452]
 ウフェナマート [DR:D01823]
 ベンダザック [DR:D01594]
 パンテノール [DR:D00193]
 ピリドキシン塩酸塩 [DR:D02179]
 ビオチン [DR:D00029]",,"ICD-11: EK00
 ICD-10: L23
 MeSH: D017449","PMID:19834255
 著者        Kezic S, Visser MJ, Verberk MM
 タイトル      Individual susceptibility to occupational contact dermatitis.
 雑誌        Ind Health 47:469-78 (2009)
 DOI:10.2486/indhealth.47.469
 PMID:21166814
 著者        Schnuch A, Westphal G, Mossner R, Uter W, Reich K
 タイトル      Genetic factors in contact allergy--review and future goals.
 雑誌        Contact Dermatitis 64:2-23 (2011)
 DOI:10.1111/j.1600-0536.2010.01800.x
 PMID:12694213
 著者        Westphal GA, Schnuch A, Moessner R, Konig IR, Kranke B, Hallier E, Ziegler A, Reich K
 タイトル      Cytokine gene polymorphisms in allergic contact dermatitis.
 雑誌        Contact Dermatitis 48:93-8 (2003)
 DOI:10.1034/j.1600-0536.2003.480208.x
 PMID:21489368
 著者        Toncic RJ, Lipozencic J, Martinac I, Greguric S
 タイトル      Immunology of allergic contact dermatitis.
 雑誌        Acta Dermatovenerol Croat 19:51-68 (2011)
 PMID:19447733
 著者        Nosbaum A, Vocanson M, Rozieres A, Hennino A, Nicolas JF
 タイトル      Allergic and irritant contact dermatitis.
 雑誌        Eur J Dermatol 19:325-32 (2009)
 DOI:10.1684/ejd.2009.0686
 PMID:11173201 (description, env_factor)
 著者        Wolf R, Wolf D
 タイトル      Contact dermatitis.
 雑誌        Clin Dermatol 18:661-6 (2000)
 DOI:10.1016/S0738-081X(00)00158-9
 PMID:15243515 (env_factor)
 著者        Cohen DE
 タイトル      Contact dermatitis: a quarter century perspective.
 雑誌        J Am Acad Dermatol 51:S60-3 (2004)
 DOI:10.1016/j.jaad.2003.01.002
 PMID:24193097 (env_factor)
 著者        Macan J, Rimac D, Kezic S, Varnai VM
 タイトル      Occupational and non-occupational allergic contact dermatitis: a follow-up study.
 雑誌        Dermatology 227:321-9 (2013)
 DOI:10.1159/000354763
 PMID:20672788 (drug)
 著者        Usatine RP, Riojas M
 タイトル      Diagnosis and management of contact dermatitis.
 雑誌        Am Fam Physician 82:249-55 (2010)
 (drug)
 著者        Papadakis MA, McPhee SJ, Rabow MW (ed).
 タイトル      Current Medical Diagnosis & Treatment 2013, Fifty-Second Edition
 雑誌        The McGraw-Hill Companies, Inc. (2013)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01357"">H01357</a>",アレルギー性接触性皮膚炎,"Allergic contact dermatitis (ACD) is a T-cell mediated skin inflammation caused by repeated skin exposure to contact allergens. Although regarded as a dermatosis that is typically triggered by environmental factors, ACD may affect certain individuals more easily than others. A higher risk for polysensitization has been found for polymorphism in the TNFA (TNFA-308) and IL-16 (IL-16-295 C/C) genes.",,"TNFA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:712"">712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03986"">K03986</a>]
 IL-16 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3603"">3603</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22628"">K22628</a>]",,"Nickel [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00291"">C00291</a>]
 Fragrances
 Cobalt [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00175"">C00175</a>]
 Chrominium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06268"">C06268</a>]
 Peru balsam
 Neomycin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00384"">C00384</a>]
 Rubber [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C02321"">C02321</a>]",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 イブプロフェンピコノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01122"">D01122</a>]
 スプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00452"">D00452</a>]
 ウフェナマート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01823"">D01823</a>]
 ベンダザック [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01594"">D01594</a>]
 パンテノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00193"">D00193</a>]
 ピリドキシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02179"">D02179</a>]
 ビオチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00029"">D00029</a>]",,"ICD-11: EK00
 ICD-10: L23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017449"">D017449</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19834255"">19834255</a>
 著者        Kezic S, Visser MJ, Verberk MM
 タイトル      Individual susceptibility to occupational contact dermatitis.
 雑誌        Ind Health 47:469-78 (2009)
 DOI:<a href=""https://doi.org/10.2486/indhealth.47.469"">10.2486/indhealth.47.469</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21166814"">21166814</a>
 著者        Schnuch A, Westphal G, Mossner R, Uter W, Reich K
 タイトル      Genetic factors in contact allergy--review and future goals.
 雑誌        Contact Dermatitis 64:2-23 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0536.2010.01800.x"">10.1111/j.1600-0536.2010.01800.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12694213"">12694213</a>
 著者        Westphal GA, Schnuch A, Moessner R, Konig IR, Kranke B, Hallier E, Ziegler A, Reich K
 タイトル      Cytokine gene polymorphisms in allergic contact dermatitis.
 雑誌        Contact Dermatitis 48:93-8 (2003)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0536.2003.480208.x"">10.1034/j.1600-0536.2003.480208.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21489368"">21489368</a>
 著者        Toncic RJ, Lipozencic J, Martinac I, Greguric S
 タイトル      Immunology of allergic contact dermatitis.
 雑誌        Acta Dermatovenerol Croat 19:51-68 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19447733"">19447733</a>
 著者        Nosbaum A, Vocanson M, Rozieres A, Hennino A, Nicolas JF
 タイトル      Allergic and irritant contact dermatitis.
 雑誌        Eur J Dermatol 19:325-32 (2009)
 DOI:<a href=""https://doi.org/10.1684/ejd.2009.0686"">10.1684/ejd.2009.0686</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11173201"">11173201</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Wolf R, Wolf D
 タイトル      Contact dermatitis.
 雑誌        Clin Dermatol 18:661-6 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0738-081X(00)00158-9"">10.1016/S0738-081X(00)00158-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15243515"">15243515</a> (env_factor)
 著者        Cohen DE
 タイトル      Contact dermatitis: a quarter century perspective.
 雑誌        J Am Acad Dermatol 51:S60-3 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2003.01.002"">10.1016/j.jaad.2003.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24193097"">24193097</a> (env_factor)
 著者        Macan J, Rimac D, Kezic S, Varnai VM
 タイトル      Occupational and non-occupational allergic contact dermatitis: a follow-up study.
 雑誌        Dermatology 227:321-9 (2013)
 DOI:<a href=""https://doi.org/10.1159/000354763"">10.1159/000354763</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20672788"">20672788</a> (drug)
 著者        Usatine RP, Riojas M
 タイトル      Diagnosis and management of contact dermatitis.
 雑誌        Am Fam Physician 82:249-55 (2010)
 (drug)
 著者        Papadakis MA, McPhee SJ, Rabow MW (ed).
 タイトル      Current Medical Diagnosis & Treatment 2013, Fifty-Second Edition
 雑誌        The McGraw-Hill Companies, Inc. (2013)"
H01358,アトピー性皮膚炎,,,"Atopic dermatitis (AD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental factors are thought to cause AD by disrupting the epidermis. This disruption, in turn, results in contact between immune cells in the dermis and antigens from the external environment leading to intense itching, scratching, and inflammation. Apart from FLG, recent genome-wide association studies (GWASs) have identified many susceptibility loci of atopic dermatitis with genome-wide significance.",免疫系疾患,,"FLG (mutation) [HSA:2312] [KO:K10384]
 IL4 (polymorphism) [HSA:3656] [KO:K04731]
 IL4RA (polymorphism) [HSA:3566] [KO:K05071]
 SPINK5 (polymorphism) [HSA:11005] [KO:K23420]
 IL13 (polymorphism) [HSA:3596] [KO:K05435]
 RANTES (polymorphism) [HSA:6352] [KO:K12499]
 NOD1 (polymorphism) [HSA:10392] [KO:K08727]
 CARD15 (polymorphism) [HSA:64127] [KO:K10165]
 TLR-2 (polymorphism) [HSA:7097] [KO:K10159]
 TLR-9 (polymorphism) [HSA:54106] [KO:K10161]
 COL29A1 (polymorphism) [HSA:256076] [KO:K06238]",,"Soap
 Detergent
 Proteases from house dust mites
 Topical corticosteroids
 病原体         Staphylococcus aureus
 Malassezia sympodialis [GN:msym]",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 クロモグリク酸ナトリウム [DR:D00526]
 タクロリムス水和物 [DR:D00107]
 シクロスポリン [DR:D00184]
 トラニラスト [DR:D02027]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 クロベタゾン酪酸エステル [DR:D01273]
 イブプロフェンピコノール [DR:D01122]
 スプロフェン [DR:D00452]
 ウフェナマート [DR:D01823]
 ベンダザック [DR:D01594]
 サリチル酸 [DR:D00097]
 尿素 [DR:D00023]
 デルゴシチニブ [DR:D11046]
 ジファミラスト [DR:D11314]
 ピリドキサールリン酸エステル水和物 [DR:D00006]
 バリシチニブ [DR:D10308]
 ウパダシチニブ水和物 [DR:D11048]
 デュピルマブ [DR:D10354]
 アブロシチニブ [DR:D11400]
 アゼラスチン塩酸塩 [DR:D00659]
 オキサトミド [DR:D01773]
 フェキソフェナジン塩酸塩 [DR:D00671]
 スプラタストトシル酸塩 [DR:D01423]
 ネモリズマブ [DR:D11080]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:D08806]",,"ICD-11: EA80
 ICD-10: L20
 MeSH: D003876
 OMIM: 605803","PMID:23473856
 著者        Kabashima K
 タイトル      New concept of the pathogenesis of atopic dermatitis: interplay among the barrier, allergy, and pruritus as a trinity.
 雑誌        J Dermatol Sci 70:3-11 (2013)
 DOI:10.1016/j.jdermsci.2013.02.001
 PMID:23439055
 著者        Tamari M, Tanaka S, Hirota T
 タイトル      Genome-wide association studies of allergic diseases.
 雑誌        Allergol Int 62:21-8 (2013)
 DOI:10.2332/allergolint.13-RAI-0539
 PMID:21518425
 著者        Bussmann C, Weidinger S, Novak N
 タイトル      Genetics of atopic dermatitis.
 雑誌        J Dtsch Dermatol Ges 9:670-6 (2011)
 DOI:10.1111/j.1610-0387.2011.07656.x
 PMID:20109730
 著者        Barnes KC
 タイトル      An update on the genetics of atopic dermatitis: scratching the surface in 2009.
 雑誌        J Allergy Clin Immunol 125:16-29.e1-11; quiz 30-1 (2010)
 DOI:10.1016/j.jaci.2009.11.008
 PMID:22962911
 著者        Berke R, Singh A, Guralnick M
 タイトル      Atopic dermatitis: an overview.
 雑誌        Am Fam Physician 86:35-42 (2012)
 PMID:16815133 (env_factor)
 著者        Cork MJ, Robinson DA, Vasilopoulos Y, Ferguson A, Moustafa M, MacGowan A, Duff GW, Ward SJ, Tazi-Ahnini R
 タイトル      New perspectives on epidermal barrier dysfunction in atopic dermatitis: gene-environment interactions.
 雑誌        J Allergy Clin Immunol 118:3-21; quiz 22-3 (2006)
 DOI:10.1016/j.jaci.2006.04.042
 PMID:22586797 (drug)
 著者        Cookson H, Smith C
 タイトル      Systemic treatment of adult atopic dermatitis.
 雑誌        Clin Med 12:172-6 (2012)
 DOI:10.1038/ng1767
 PMID:20070141 (drug)
 著者        Simpson EL
 タイトル      Atopic dermatitis: a review of topical treatment options.
 雑誌        Curr Med Res Opin 26:633-40 (2010)
 DOI:10.1185/03007990903512156
 PMID:24354911 (drug)
 著者        Simon D, Bieber T
 タイトル      Systemic therapy for atopic dermatitis.
 雑誌        Allergy 69:46-55 (2014)
 DOI:10.1111/all.12339","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01358"">H01358</a>",アトピー性皮膚炎,"Atopic dermatitis (AD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental factors are thought to cause AD by disrupting the epidermis. This disruption, in turn, results in contact between immune cells in the dermis and antigens from the external environment leading to intense itching, scratching, and inflammation. Apart from FLG, recent genome-wide association studies (GWASs) have identified many susceptibility loci of atopic dermatitis with genome-wide significance.",,"FLG (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2312"">2312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10384"">K10384</a>]
 IL4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3656"">3656</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04731"">K04731</a>]
 IL4RA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3566"">3566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05071"">K05071</a>]
 SPINK5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11005"">11005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23420"">K23420</a>]
 IL13 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3596"">3596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05435"">K05435</a>]
 RANTES (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6352"">6352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12499"">K12499</a>]
 NOD1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10392"">10392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08727"">K08727</a>]
 CARD15 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64127"">64127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10165"">K10165</a>]
 TLR-2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7097"">7097</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10159"">K10159</a>]
 TLR-9 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54106"">54106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10161"">K10161</a>]
 COL29A1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:256076"">256076</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]",,"Soap
 Detergent
 Proteases from house dust mites
 Topical corticosteroids
 病原体         Staphylococcus aureus
 Malassezia sympodialis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:msym"">msym</a>]",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 クロモグリク酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00526"">D00526</a>]
 タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 トラニラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02027"">D02027</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 クロベタゾン酪酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01273"">D01273</a>]
 イブプロフェンピコノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01122"">D01122</a>]
 スプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00452"">D00452</a>]
 ウフェナマート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01823"">D01823</a>]
 ベンダザック [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01594"">D01594</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 尿素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00023"">D00023</a>]
 デルゴシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11046"">D11046</a>]
 ジファミラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11314"">D11314</a>]
 ピリドキサールリン酸エステル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00006"">D00006</a>]
 バリシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10308"">D10308</a>]
 ウパダシチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11048"">D11048</a>]
 デュピルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10354"">D10354</a>]
 アブロシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11400"">D11400</a>]
 アゼラスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00659"">D00659</a>]
 オキサトミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01773"">D01773</a>]
 フェキソフェナジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00671"">D00671</a>]
 スプラタストトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01423"">D01423</a>]
 ネモリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11080"">D11080</a>]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08806"">D08806</a>]",,"ICD-11: EA80
 ICD-10: L20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003876"">D003876</a>
 OMIM: <a href=""https://www.omim.org/entry/605803"">605803</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23473856"">23473856</a>
 著者        Kabashima K
 タイトル      New concept of the pathogenesis of atopic dermatitis: interplay among the barrier, allergy, and pruritus as a trinity.
 雑誌        J Dermatol Sci 70:3-11 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2013.02.001"">10.1016/j.jdermsci.2013.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23439055"">23439055</a>
 著者        Tamari M, Tanaka S, Hirota T
 タイトル      Genome-wide association studies of allergic diseases.
 雑誌        Allergol Int 62:21-8 (2013)
 DOI:<a href=""https://doi.org/10.2332/allergolint.13-RAI-0539"">10.2332/allergolint.13-RAI-0539</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21518425"">21518425</a>
 著者        Bussmann C, Weidinger S, Novak N
 タイトル      Genetics of atopic dermatitis.
 雑誌        J Dtsch Dermatol Ges 9:670-6 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1610-0387.2011.07656.x"">10.1111/j.1610-0387.2011.07656.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20109730"">20109730</a>
 著者        Barnes KC
 タイトル      An update on the genetics of atopic dermatitis: scratching the surface in 2009.
 雑誌        J Allergy Clin Immunol 125:16-29.e1-11; quiz 30-1 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2009.11.008"">10.1016/j.jaci.2009.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22962911"">22962911</a>
 著者        Berke R, Singh A, Guralnick M
 タイトル      Atopic dermatitis: an overview.
 雑誌        Am Fam Physician 86:35-42 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16815133"">16815133</a> (env_factor)
 著者        Cork MJ, Robinson DA, Vasilopoulos Y, Ferguson A, Moustafa M, MacGowan A, Duff GW, Ward SJ, Tazi-Ahnini R
 タイトル      New perspectives on epidermal barrier dysfunction in atopic dermatitis: gene-environment interactions.
 雑誌        J Allergy Clin Immunol 118:3-21; quiz 22-3 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2006.04.042"">10.1016/j.jaci.2006.04.042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22586797"">22586797</a> (drug)
 著者        Cookson H, Smith C
 タイトル      Systemic treatment of adult atopic dermatitis.
 雑誌        Clin Med 12:172-6 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng1767"">10.1038/ng1767</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20070141"">20070141</a> (drug)
 著者        Simpson EL
 タイトル      Atopic dermatitis: a review of topical treatment options.
 雑誌        Curr Med Res Opin 26:633-40 (2010)
 DOI:<a href=""https://doi.org/10.1185/03007990903512156"">10.1185/03007990903512156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24354911"">24354911</a> (drug)
 著者        Simon D, Bieber T
 タイトル      Systemic therapy for atopic dermatitis.
 雑誌        Allergy 69:46-55 (2014)
 DOI:<a href=""https://doi.org/10.1111/all.12339"">10.1111/all.12339</a>"
H01359,アナフィラキシー,,,"Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered by a broad range of triggers. Food is the commonest trigger in children and drugs the commonest in adults. In addition to the environmental influences, studies suggest that a complex of genes affects the anaphylactic response. Anaphylaxis occurs as the result of an allergen response, usually immunoglobulin E-mediated, which leads to mast cell and basophil activation and a combination of dermatologic, respiratory, cardiovascular, gastrointestinal, and neurologic symptoms.",免疫系疾患,,"c-KIT (mutation) [HSA:3815] [KO:K05091]
 NLRP3 (polymorphism) [HSA:114548] [KO:K12800]
 IL-10 (polymorphism) [HSA:3586] [KO:K05443]",,"Milk
 Egg
 Fish
 Peanut
 Tree nut
 Sesame
 Shellfish
 Food additives
 Penicillin [CPD:C08126]
 Cephalosporin [CPD:C00875]
 Vanomycin
 Bee
 Wasp
 Fire ants
 Aspirin [CPD:C01405]
 Latex",,"デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 アドレナリン [DR:D00095]
 ノルアドレナリン [DR:D00076]",,"ICD-11: 4A84
 MeSH: D000707","PMID:20560905 (gene, description, env_factor)
 著者        Ben-Shoshan M, Clarke AE
 タイトル      Anaphylaxis: past, present and future.
 雑誌        Allergy 66:1-14 (2011)
 DOI:10.1111/j.1398-9995.2010.02422.x
 PMID:22085665 (description, env_factor, drug)
 著者        Arnold JJ, Williams PM
 タイトル      Anaphylaxis: recognition and management.
 雑誌        Am Fam Physician 84:1111-8 (2011)
 PMID:20236436 (description, env_factor)
 著者        Younker J, Soar J
 タイトル      Recognition and treatment of anaphylaxis.
 雑誌        Nurs Crit Care 15:94-8 (2010)
 DOI:10.1111/j.1478-5153.2010.00366.x
 PMID:20176258 (env_factor)
 著者        Simons FE
 タイトル      Anaphylaxis.
 雑誌        J Allergy Clin Immunol 125:S161-81 (2010)
 DOI:10.1016/j.jaci.2009.12.981
 PMID:21682750 (drug)
 著者        Boden SR, Wesley Burks A
 タイトル      Anaphylaxis: a history with emphasis on food allergy.
 雑誌        Immunol Rev 242:247-57 (2011)
 DOI:10.1111/j.1600-065X.2011.01028.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01359"">H01359</a>",アナフィラキシー,"Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered by a broad range of triggers. Food is the commonest trigger in children and drugs the commonest in adults. In addition to the environmental influences, studies suggest that a complex of genes affects the anaphylactic response. Anaphylaxis occurs as the result of an allergen response, usually immunoglobulin E-mediated, which leads to mast cell and basophil activation and a combination of dermatologic, respiratory, cardiovascular, gastrointestinal, and neurologic symptoms.",,"c-KIT (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 NLRP3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]
 IL-10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]",,"Milk
 Egg
 Fish
 Peanut
 Tree nut
 Sesame
 Shellfish
 Food additives
 Penicillin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C08126"">C08126</a>]
 Cephalosporin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00875"">C00875</a>]
 Vanomycin
 Bee
 Wasp
 Fire ants
 Aspirin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01405"">C01405</a>]
 Latex",,"デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 アドレナリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00095"">D00095</a>]
 ノルアドレナリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00076"">D00076</a>]",,"ICD-11: 4A84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000707"">D000707</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20560905"">20560905</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/description,"">description,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Ben-Shoshan M, Clarke AE
 タイトル      Anaphylaxis: past, present and future.
 雑誌        Allergy 66:1-14 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1398-9995.2010.02422.x"">10.1111/j.1398-9995.2010.02422.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22085665"">22085665</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Arnold JJ, Williams PM
 タイトル      Anaphylaxis: recognition and management.
 雑誌        Am Fam Physician 84:1111-8 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20236436"">20236436</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Younker J, Soar J
 タイトル      Recognition and treatment of anaphylaxis.
 雑誌        Nurs Crit Care 15:94-8 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1478-5153.2010.00366.x"">10.1111/j.1478-5153.2010.00366.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20176258"">20176258</a> (env_factor)
 著者        Simons FE
 タイトル      Anaphylaxis.
 雑誌        J Allergy Clin Immunol 125:S161-81 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2009.12.981"">10.1016/j.jaci.2009.12.981</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21682750"">21682750</a> (drug)
 著者        Boden SR, Wesley Burks A
 タイトル      Anaphylaxis: a history with emphasis on food allergy.
 雑誌        Immunol Rev 242:247-57 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1600-065X.2011.01028.x"">10.1111/j.1600-065X.2011.01028.x</a>"
H01360,アレルギー性鼻炎,,,"Allergic rhinitis (AR) is an inflammation of nasal mucosa mediated by IgE-associated processes, which is characterised by pruritus, sneezing, rhinorrhoea, and nasal congestion. The development of AR entails a complex interaction between genetic predisposition and environmental exposure to different factors, of which the most important is the implicated allergen. Single-nucleotide polymorphism studies involving genes encoding for molecules implicated in the pathogenesis of AR have also been made. Such molecules comprise chemokines and their receptors, interleukins and their receptors, eosinophil peroxidase and leukotrienes, among others.",免疫系疾患,,"GATA3 (polymorphism) [HSA:2625] [KO:K17895]
 IL-13 (polymorphism) [HSA:3596] [KO:K05435]
 IL-18 (polymorphism) [HSA:3606] [KO:K05482]
 IL-28RA (polymorphism) [HSA:163702] [KO:K05140]
 EPO (polymorphism) [HSA:2056] [KO:K05437]
 CCXCR1 (polymorphism) [HSA:2829] [KO:K04193]
 CCR1 (polymorphism) [HSA:1230] [KO:K04176]
 CCR2 (polymorphism) [HSA:729230] [KO:K04177]
 CCR3 (polymorphism) [HSA:1232] [KO:K04178]
 CCR5 (polymorphism) [HSA:1234] [KO:K04180]
 SDAD1 (polymorphism) [HSA:55153] [KO:K14856]
 CXCL9 (polymorphism) [HSA:4283] [KO:K05416]
 CXCL10 (polymorphism) [HSA:3627] [KO:K12671]
 CXCL11 (polymorphism) [HSA:6373] [KO:K12672]
 RANTES (polymorphism) [HSA:6352] [KO:K12499]
 Eotaxin-3 (polymorphism) [HSA:10344] [KO:K21096]
 CD14 (polymorphism) [HSA:929] [KO:K04391]
 FOXJ1 (polymorphism) [HSA:2302] [KO:K09402]
 FCGR2A (polymorphism) [HSA:2212] [KO:K06472]",,"Dust mite
 Mold
 Animal dander
 Cockroach
 Tree, Grass, and weed pollens",,"ノイロトロピン [DR:D07630]
 プロメタジンメチレンジサリチル酸塩 [DR:D03290]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 クロモグリク酸ナトリウム [DR:D00526]
 レボカバスチン塩酸塩 [DR:D01717]
 オロパタジン塩酸塩 [DR:D01192]
 ケトチフェンフマル酸塩 [DR:D01332]
 エピナスチン塩酸塩 [DR:D01713]
 フラジオマイシン硫酸塩・ベタメタゾンリン酸エステルナトリウム [DR:D04246]
 ペミロラストカリウム [DR:D01088]
 トラニラスト [DR:D02027]
 デキサメタゾンシペシル酸エステル [DR:D07073]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 モメタゾンフランカルボン酸エステル水和物 [DR:D03325]
 フルチカゾンフランカルボン酸エステル [DR:D06315]
 フルチカゾンプロピオン酸エステル [DR:D01708]
 オマリズマブ [DR:D05251]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 ベタメタゾン酢酸エステル・ベタメタゾンリン酸エステルナトリウム [DR:D04446]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ベタメタゾン・d-クロルフェニラミンマレイン酸塩 [DR:D04447]
 ジフェンヒドラミン塩酸塩 [DR:D00669]
 プロメタジン塩酸塩 [DR:D00480]
 プロメタジンヒベンズ酸塩 [DR:D08768]
 アリメマジン酒石酸塩 [DR:D02245]
 メキタジン [DR:D01324]
 クレマスチンフマル酸塩 [DR:D00666]
 d-クロルフェニラミンマレイン酸塩 [DR:D00668]
 クロルフェニラミンマレイン酸塩 [DR:D00665]
 シプロヘプタジン塩酸塩水和物 [DR:D02234]
 ホモクロルシクリジン塩酸塩 [DR:D01460]
 ジフェンヒドラミン塩酸塩・臭化カルシウム [DR:D08769]
 アゼラスチン塩酸塩 [DR:D00659]
 フェキソフェナジン塩酸塩・塩酸プソイドエフェドリン [DR:D10252]
 プランルカスト水和物 [DR:D02732]
 モンテルカストナトリウム [DR:D00529]
 オキサトミド [DR:D01773]
 セチリジン塩酸塩 [DR:D00664]
 レボセチリジン塩酸塩 [DR:D08118]
 ロラタジン [DR:D00364]
 エバスチン [DR:D01478]
 フェキソフェナジン塩酸塩 [DR:D00671]
 デスロラタジン [DR:D03693]
 ルパタジンフマル酸塩 [DR:D08497]
 ビラスチン [DR:D09570]
 エメダスチンフマル酸塩 [DR:D02249]
 ダニアレルゲンエキス [DR:D10603]
 アレルゲンエキス [DR:D08770]
 ラマトロバン [DR:D01128]
 スプラタストトシル酸塩 [DR:D01423]
 ベポタスチンベシル酸塩 [DR:D01654]
 小青竜湯エキス [DR:D06987]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:D08806]
 ジフェニルピラリン塩酸塩 [DR:D01172]",,"ICD-11: CA08.0
 ICD-10: J30
 MeSH: C567078
 OMIM: 607154","PMID:19476051
 著者        Davila I, Mullol J, Ferrer M, Bartra J, del Cuvillo A, Montoro J, Jauregui I, Sastre J, Valero A
 タイトル      Genetic aspects of allergic rhinitis.
 雑誌        J Investig Allergol Clin Immunol 19 Suppl 1:25-31 (2009)
 PMID:22053313
 著者        Pawankar R, Mori S, Ozu C, Kimura S
 タイトル      Overview on the pathomechanisms of allergic rhinitis.
 雑誌        Asia Pac Allergy 1:157-67 (2011)
 DOI:10.5415/apallergy.2011.1.3.157
 PMID:21913195 (env_factor)
 著者        Mucci T, Govindaraj S, Tversky J
 タイトル      Allergic rhinitis.
 雑誌        Mt Sinai J Med 78:634-44 (2011)
 DOI:10.1002/msj.20287
 PMID:21783242 (description, env_factor, drug)
 著者        Greiner AN, Hellings PW, Rotiroti G, Scadding GK
 タイトル      Allergic rhinitis.
 雑誌        Lancet 378:2112-22 (2011)
 DOI:10.1016/S0140-6736(11)60130-X
 PMID:21784174 (description, env_factor, drug)
 著者        Mandhane SN, Shah JH, Thennati R
 タイトル      Allergic rhinitis: an update on disease, present treatments and future prospects.
 雑誌        Int Immunopharmacol 11:1646-62 (2011)
 DOI:10.1016/j.intimp.2011.07.005
 PMID:18360551 (env_factor)
 著者        Wang DY
 タイトル      Risk factors of allergic rhinitis: genetic or environmental?
 雑誌        Ther Clin Risk Manag 1:115-23 (2005)
 DOI:10.2147/tcrm.1.2.115.62907
 PMID:24535140 (drug)
 著者        Braido F, Arcadipane F, Marugo F, Hayashi M, Pawankar R
 タイトル      Allergic rhinitis: current options and future perspectives.
 雑誌        Curr Opin Allergy Clin Immunol 14:168-76 (2014)
 DOI:10.1097/ACI.0000000000000043","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01360"">H01360</a>",アレルギー性鼻炎,"Allergic rhinitis (AR) is an inflammation of nasal mucosa mediated by IgE-associated processes, which is characterised by pruritus, sneezing, rhinorrhoea, and nasal congestion. The development of AR entails a complex interaction between genetic predisposition and environmental exposure to different factors, of which the most important is the implicated allergen. Single-nucleotide polymorphism studies involving genes encoding for molecules implicated in the pathogenesis of AR have also been made. Such molecules comprise chemokines and their receptors, interleukins and their receptors, eosinophil peroxidase and leukotrienes, among others.",,"GATA3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2625"">2625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17895"">K17895</a>]
 IL-13 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3596"">3596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05435"">K05435</a>]
 IL-18 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3606"">3606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05482"">K05482</a>]
 IL-28RA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:163702"">163702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05140"">K05140</a>]
 EPO (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2056"">2056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05437"">K05437</a>]
 CCXCR1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2829"">2829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04193"">K04193</a>]
 CCR1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1230"">1230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04176"">K04176</a>]
 CCR2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729230"">729230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04177"">K04177</a>]
 CCR3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1232"">1232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04178"">K04178</a>]
 CCR5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1234"">1234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04180"">K04180</a>]
 SDAD1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55153"">55153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14856"">K14856</a>]
 CXCL9 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4283"">4283</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05416"">K05416</a>]
 CXCL10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3627"">3627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12671"">K12671</a>]
 CXCL11 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6373"">6373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12672"">K12672</a>]
 RANTES (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6352"">6352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12499"">K12499</a>]
 Eotaxin-3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10344"">10344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21096"">K21096</a>]
 CD14 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:929"">929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04391"">K04391</a>]
 FOXJ1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2302"">2302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09402"">K09402</a>]
 FCGR2A (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2212"">2212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06472"">K06472</a>]",,"Dust mite
 Mold
 Animal dander
 Cockroach
 Tree, Grass, and weed pollens",,"ノイロトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07630"">D07630</a>]
 プロメタジンメチレンジサリチル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03290"">D03290</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 クロモグリク酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00526"">D00526</a>]
 レボカバスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01717"">D01717</a>]
 オロパタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01192"">D01192</a>]
 ケトチフェンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01332"">D01332</a>]
 エピナスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01713"">D01713</a>]
 フラジオマイシン硫酸塩・ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04246"">D04246</a>]
 ペミロラストカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01088"">D01088</a>]
 トラニラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02027"">D02027</a>]
 デキサメタゾンシペシル酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07073"">D07073</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 モメタゾンフランカルボン酸エステル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03325"">D03325</a>]
 フルチカゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06315"">D06315</a>]
 フルチカゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01708"">D01708</a>]
 オマリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05251"">D05251</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 ベタメタゾン酢酸エステル・ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04446"">D04446</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ベタメタゾン・d-クロルフェニラミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04447"">D04447</a>]
 ジフェンヒドラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00669"">D00669</a>]
 プロメタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00480"">D00480</a>]
 プロメタジンヒベンズ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08768"">D08768</a>]
 アリメマジン酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02245"">D02245</a>]
 メキタジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01324"">D01324</a>]
 クレマスチンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00666"">D00666</a>]
 d-クロルフェニラミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00668"">D00668</a>]
 クロルフェニラミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00665"">D00665</a>]
 シプロヘプタジン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02234"">D02234</a>]
 ホモクロルシクリジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01460"">D01460</a>]
 ジフェンヒドラミン塩酸塩・臭化カルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08769"">D08769</a>]
 アゼラスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00659"">D00659</a>]
 フェキソフェナジン塩酸塩・塩酸プソイドエフェドリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10252"">D10252</a>]
 プランルカスト水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02732"">D02732</a>]
 モンテルカストナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00529"">D00529</a>]
 オキサトミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01773"">D01773</a>]
 セチリジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00664"">D00664</a>]
 レボセチリジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08118"">D08118</a>]
 ロラタジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00364"">D00364</a>]
 エバスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01478"">D01478</a>]
 フェキソフェナジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00671"">D00671</a>]
 デスロラタジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03693"">D03693</a>]
 ルパタジンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08497"">D08497</a>]
 ビラスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09570"">D09570</a>]
 エメダスチンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02249"">D02249</a>]
 ダニアレルゲンエキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10603"">D10603</a>]
 アレルゲンエキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08770"">D08770</a>]
 ラマトロバン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01128"">D01128</a>]
 スプラタストトシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01423"">D01423</a>]
 ベポタスチンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01654"">D01654</a>]
 小青竜湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06987"">D06987</a>]
 ヒスタミン二塩酸塩・人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08806"">D08806</a>]
 ジフェニルピラリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01172"">D01172</a>]",,"ICD-11: CA08.0
 ICD-10: J30
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567078"">C567078</a>
 OMIM: <a href=""https://www.omim.org/entry/607154"">607154</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19476051"">19476051</a>
 著者        Davila I, Mullol J, Ferrer M, Bartra J, del Cuvillo A, Montoro J, Jauregui I, Sastre J, Valero A
 タイトル      Genetic aspects of allergic rhinitis.
 雑誌        J Investig Allergol Clin Immunol 19 Suppl 1:25-31 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22053313"">22053313</a>
 著者        Pawankar R, Mori S, Ozu C, Kimura S
 タイトル      Overview on the pathomechanisms of allergic rhinitis.
 雑誌        Asia Pac Allergy 1:157-67 (2011)
 DOI:<a href=""https://doi.org/10.5415/apallergy.2011.1.3.157"">10.5415/apallergy.2011.1.3.157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21913195"">21913195</a> (env_factor)
 著者        Mucci T, Govindaraj S, Tversky J
 タイトル      Allergic rhinitis.
 雑誌        Mt Sinai J Med 78:634-44 (2011)
 DOI:<a href=""https://doi.org/10.1002/msj.20287"">10.1002/msj.20287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21783242"">21783242</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Greiner AN, Hellings PW, Rotiroti G, Scadding GK
 タイトル      Allergic rhinitis.
 雑誌        Lancet 378:2112-22 (2011)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(11)60130-X"">10.1016/S0140-6736(11)60130-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21784174"">21784174</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Mandhane SN, Shah JH, Thennati R
 タイトル      Allergic rhinitis: an update on disease, present treatments and future prospects.
 雑誌        Int Immunopharmacol 11:1646-62 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.intimp.2011.07.005"">10.1016/j.intimp.2011.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18360551"">18360551</a> (env_factor)
 著者        Wang DY
 タイトル      Risk factors of allergic rhinitis: genetic or environmental?
 雑誌        Ther Clin Risk Manag 1:115-23 (2005)
 DOI:<a href=""https://doi.org/10.2147/tcrm.1.2.115.62907"">10.2147/tcrm.1.2.115.62907</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24535140"">24535140</a> (drug)
 著者        Braido F, Arcadipane F, Marugo F, Hayashi M, Pawankar R
 タイトル      Allergic rhinitis: current options and future perspectives.
 雑誌        Curr Opin Allergy Clin Immunol 14:168-76 (2014)
 DOI:<a href=""https://doi.org/10.1097/ACI.0000000000000043"">10.1097/ACI.0000000000000043</a>"
H01361,好酸球性食道炎,,,"Eosinophilic esophagitis (EoE) is a chronic immune and antigen-mediated clinicopathologic disease that is characterized by eosinophil infiltration into the esophageal epithelium and results in esophageal fibrosis and dysfunction. Several factors contribute to the development of EoE, including genetic predisposition, history of allergies, and presence of environmental and food allergens. Recently, an association between a single nuclear polymorphism (SNP) in the gene encoding thymic stromal lymphopoietin (TSLP) or eotaxin-3 (CCL-26) and risk for EoE was found.",免疫系疾患,,"TSLP (polymorphism) [HSA:85480] [KO:K05436]
 CCL-26 (polymorphism) [HSA:10344] [KO:K21096]",,"Milk
 Wheat
 Egg
 Soy
 Fish
 Peanut
 Dust mites
 Aspergillus fumigatus [GN:afm]
 Alternaria alternata
 Ragweed pollen",,,,"ICD-11: DA24.1
 MeSH: D057765","PMID:22313241 (gene, env_factor)
 著者        Straumann A, Aceves SS, Blanchard C, Collins MH, Furuta GT, Hirano I, Schoepfer AM, Simon D, Simon HU
 タイトル      Pediatric and adult eosinophilic esophagitis: similarities and differences.
 雑誌        Allergy 67:477-90 (2012)
 DOI:10.1111/j.1398-9995.2012.02787.x
 PMID:21228772
 著者        Mulder DJ, Justinich CJ
 タイトル      Understanding eosinophilic esophagitis: the cellular and molecular mechanisms of an emerging disease.
 雑誌        Mucosal Immunol 4:139-47 (2011)
 DOI:10.1038/mi.2010.88
 PMID:17088129
 著者        Blanchard C, Wang N, Rothenberg ME
 タイトル      Eosinophilic esophagitis: pathogenesis, genetics, and therapy.
 雑誌        J Allergy Clin Immunol 118:1054-9 (2006)
 DOI:10.1016/j.jaci.2006.07.038
 PMID:24566295
 著者        Merves J, Muir A, Modayur Chandramouleeswaran P, Cianferoni A, Wang ML, Spergel JM
 タイトル      Eosinophilic esophagitis.
 雑誌        Ann Allergy Asthma Immunol 112:397-403 (2014)
 DOI:10.1016/j.anai.2014.01.023
 PMID:23130328 (env_factor)
 著者        Ridolo E, Montagni M, Olivieri E, Rogkakou A, De' Angelis GL, Canonica GW
 タイトル      Eosinophilic esophagitis: which role for food and inhalant allergens?
 雑誌        Asia Pac Allergy 2:237-41 (2012)
 DOI:10.5415/apallergy.2012.2.4.237
 PMID:21991511 (env_factor)
 著者        Shahzad G, Mustacchia P, Frieri M
 タイトル      Role of mucosal inflammation in eosinophilic esophagitis: review of the literature.
 雑誌        ISRN Gastroenterol 2011:468073 (2011)
 DOI:10.5402/2011/468073
 PMID:23001405 (drug, description)
 著者        Redd M, Schey R
 タイトル      Eosinophilic esophagitis: current treatment.
 雑誌        Dig Dis Sci 58:613-20 (2013)
 DOI:10.1007/s10620-012-2383-1
 PMID:22034864 (drug)
 著者        Abonia JP, Rothenberg ME
 タイトル      Eosinophilic esophagitis: rapidly advancing insights.
 雑誌        Annu Rev Med 63:421-34 (2012)
 DOI:10.1146/annurev-med-041610-134138
 (drug)
 著者        Papadakis MA, McPhee SJ, Rabow MW (ed).
 タイトル      Current Medical Diagnosis & Treatment 2013, Fifty-Second Edition
 雑誌        The McGraw-Hill Companies, Inc. (2013)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01361"">H01361</a>",好酸球性食道炎,"Eosinophilic esophagitis (EoE) is a chronic immune and antigen-mediated clinicopathologic disease that is characterized by eosinophil infiltration into the esophageal epithelium and results in esophageal fibrosis and dysfunction. Several factors contribute to the development of EoE, including genetic predisposition, history of allergies, and presence of environmental and food allergens. Recently, an association between a single nuclear polymorphism (SNP) in the gene encoding thymic stromal lymphopoietin (TSLP) or eotaxin-3 (CCL-26) and risk for EoE was found.",,"TSLP (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85480"">85480</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05436"">K05436</a>]
 CCL-26 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10344"">10344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21096"">K21096</a>]",,"Milk
 Wheat
 Egg
 Soy
 Fish
 Peanut
 Dust mites
 Aspergillus fumigatus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:afm"">afm</a>]
 Alternaria alternata
 Ragweed pollen",,,,"ICD-11: DA24.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057765"">D057765</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22313241"">22313241</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Straumann A, Aceves SS, Blanchard C, Collins MH, Furuta GT, Hirano I, Schoepfer AM, Simon D, Simon HU
 タイトル      Pediatric and adult eosinophilic esophagitis: similarities and differences.
 雑誌        Allergy 67:477-90 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1398-9995.2012.02787.x"">10.1111/j.1398-9995.2012.02787.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21228772"">21228772</a>
 著者        Mulder DJ, Justinich CJ
 タイトル      Understanding eosinophilic esophagitis: the cellular and molecular mechanisms of an emerging disease.
 雑誌        Mucosal Immunol 4:139-47 (2011)
 DOI:<a href=""https://doi.org/10.1038/mi.2010.88"">10.1038/mi.2010.88</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17088129"">17088129</a>
 著者        Blanchard C, Wang N, Rothenberg ME
 タイトル      Eosinophilic esophagitis: pathogenesis, genetics, and therapy.
 雑誌        J Allergy Clin Immunol 118:1054-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2006.07.038"">10.1016/j.jaci.2006.07.038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24566295"">24566295</a>
 著者        Merves J, Muir A, Modayur Chandramouleeswaran P, Cianferoni A, Wang ML, Spergel JM
 タイトル      Eosinophilic esophagitis.
 雑誌        Ann Allergy Asthma Immunol 112:397-403 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.anai.2014.01.023"">10.1016/j.anai.2014.01.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23130328"">23130328</a> (env_factor)
 著者        Ridolo E, Montagni M, Olivieri E, Rogkakou A, De' Angelis GL, Canonica GW
 タイトル      Eosinophilic esophagitis: which role for food and inhalant allergens?
 雑誌        Asia Pac Allergy 2:237-41 (2012)
 DOI:<a href=""https://doi.org/10.5415/apallergy.2012.2.4.237"">10.5415/apallergy.2012.2.4.237</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21991511"">21991511</a> (env_factor)
 著者        Shahzad G, Mustacchia P, Frieri M
 タイトル      Role of mucosal inflammation in eosinophilic esophagitis: review of the literature.
 雑誌        ISRN Gastroenterol 2011:468073 (2011)
 DOI:<a href=""https://doi.org/10.5402/2011/468073"">10.5402/2011/468073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23001405"">23001405</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/description)"">description)</a>
 著者        Redd M, Schey R
 タイトル      Eosinophilic esophagitis: current treatment.
 雑誌        Dig Dis Sci 58:613-20 (2013)
 DOI:<a href=""https://doi.org/10.1007/s10620-012-2383-1"">10.1007/s10620-012-2383-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22034864"">22034864</a> (drug)
 著者        Abonia JP, Rothenberg ME
 タイトル      Eosinophilic esophagitis: rapidly advancing insights.
 雑誌        Annu Rev Med 63:421-34 (2012)
 DOI:<a href=""https://doi.org/10.1146/annurev-med-041610-134138"">10.1146/annurev-med-041610-134138</a>
 (drug)
 著者        Papadakis MA, McPhee SJ, Rabow MW (ed).
 タイトル      Current Medical Diagnosis & Treatment 2013, Fifty-Second Edition
 雑誌        The McGraw-Hill Companies, Inc. (2013)"
H01362,疱疹状皮膚炎,,,"Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA DR3, HLA DQw2, found in 80-90% of cases. Owing to the granular immunoglobulin (Ig) A deposition at the tips of the papillary dermis and to the subepidermal blister formation associated with neutrophilic accumulations underlying the basement membrane, DH is considered to be an autoimmune blistering disease.",免疫系疾患,,"HLA-DQA1 [HSA:3117] [KO:K06752]
 HLA-DQB1 [HSA:3119] [KO:K06752]
 HLA-DR3
 HLA-B8",,Gluten,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 ジフロラゾン酢酸エステル [DR:D01327]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 ジアフェニルスルホン [DR:D00592]",,"ICD-11: EB44
 ICD-10: L13.0","PMID:22811741 (gene, env_factor)
 著者        Nakajima K
 タイトル      Recent advances in dermatitis herpetiformis.
 雑誌        Clin Dev Immunol 2012:914162 (2012)
 DOI:10.1155/2012/914162
 PMID:24068131 (gene, description, env_factor)
 著者        Mendes FB, Hissa-Elian A, de Abreu MA, Goncalves VS
 タイトル      Review: dermatitis herpetiformis.
 雑誌        An Bras Dermatol 88:594-9 (2013)
 DOI:10.1590/abd1806-4841.20131775
 PMID:22137227 (gene, description, env_factor)
 著者        Karpati S
 タイトル      Dermatitis herpetiformis.
 雑誌        Clin Dermatol 30:56-9 (2012)
 DOI:10.1016/j.clindermatol.2011.03.010
 PMID:21571168 (gene, drug)
 著者        Bolotin D, Petronic-Rosic V
 タイトル      Dermatitis herpetiformis. Part II. Diagnosis, management, and prognosis.
 雑誌        J Am Acad Dermatol 64:1027-33; quiz 1033-4 (2011)
 DOI:10.1016/j.jaad.2010.09.776
 PMID:23674144 (drug)
 著者        Plotnikova N, Miller JL
 タイトル      Dermatitis herpetiformis.
 雑誌        Skin Therapy Lett 18:1-3 (2013)
 PMID:19470076 (drug)
 著者        Caproni M, Antiga E, Melani L, Fabbri P
 タイトル      Guidelines for the diagnosis and treatment of dermatitis herpetiformis.
 雑誌        J Eur Acad Dermatol Venereol 23:633-8 (2009)
 DOI:10.1111/j.1468-3083.2009.03188.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01362"">H01362</a>",疱疹状皮膚炎,"Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA DR3, HLA DQw2, found in 80-90% of cases. Owing to the granular immunoglobulin (Ig) A deposition at the tips of the papillary dermis and to the subepidermal blister formation associated with neutrophilic accumulations underlying the basement membrane, DH is considered to be an autoimmune blistering disease.",,"HLA-DQA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DR3
 HLA-B8",,Gluten,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 ジアフェニルスルホン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00592"">D00592</a>]",,"ICD-11: EB44
 ICD-10: L13.0","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22811741"">22811741</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Nakajima K
 タイトル      Recent advances in dermatitis herpetiformis.
 雑誌        Clin Dev Immunol 2012:914162 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/914162"">10.1155/2012/914162</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24068131"">24068131</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/description,"">description,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Mendes FB, Hissa-Elian A, de Abreu MA, Goncalves VS
 タイトル      Review: dermatitis herpetiformis.
 雑誌        An Bras Dermatol 88:594-9 (2013)
 DOI:<a href=""https://doi.org/10.1590/abd1806-4841.20131775"">10.1590/abd1806-4841.20131775</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22137227"">22137227</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/description,"">description,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Karpati S
 タイトル      Dermatitis herpetiformis.
 雑誌        Clin Dermatol 30:56-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2011.03.010"">10.1016/j.clindermatol.2011.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21571168"">21571168</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Bolotin D, Petronic-Rosic V
 タイトル      Dermatitis herpetiformis. Part II. Diagnosis, management, and prognosis.
 雑誌        J Am Acad Dermatol 64:1027-33; quiz 1033-4 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2010.09.776"">10.1016/j.jaad.2010.09.776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23674144"">23674144</a> (drug)
 著者        Plotnikova N, Miller JL
 タイトル      Dermatitis herpetiformis.
 雑誌        Skin Therapy Lett 18:1-3 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19470076"">19470076</a> (drug)
 著者        Caproni M, Antiga E, Melani L, Fabbri P
 タイトル      Guidelines for the diagnosis and treatment of dermatitis herpetiformis.
 雑誌        J Eur Acad Dermatol Venereol 23:633-8 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2009.03188.x"">10.1111/j.1468-3083.2009.03188.x</a>"
H01363,"NARP症候群
 上位グループ    ATP合成酵素欠損症 [DS:H01369]
 ミトコンドリア病 [DS:H01427]",,,"Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease.",先天性代謝異常症; ミトコンドリア病,,MT-ATP6 [HSA:4508] [KO:K02126],,,,,,"ICD-11: 8C73.1
 ICD-10: G31.8
 MeSH: C537396
 OMIM: 551500","PMID:20953793
 著者        Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ
 タイトル      Heterogeneous patterns of tissue injury in NARP syndrome.
 雑誌        J Neurol 258:440-8 (2011)
 DOI:10.1007/s00415-010-5775-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01363"">H01363</a>","NARP症候群
 上位グループ    ATP合成酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01369"">H01369</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease.",,"MT-ATP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4508"">4508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02126"">K02126</a>]",,,,,,"ICD-11: 8C73.1
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537396"">C537396</a>
 OMIM: <a href=""https://www.omim.org/entry/551500"">551500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20953793"">20953793</a>
 著者        Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ
 タイトル      Heterogeneous patterns of tissue injury in NARP syndrome.
 雑誌        J Neurol 258:440-8 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00415-010-5775-1"">10.1007/s00415-010-5775-1</a>"
H01364,"HADH欠損症;
 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorder that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.",先天性代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,HADH [HSA:3033] [KO:K00022],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C535310
 OMIM: 231530","PMID:16176262
 著者        Yang SY, He XY, Schulz H
 タイトル      3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
 雑誌        FEBS J 272:4874-83 (2005)
 DOI:10.1111/j.1742-4658.2005.04911.x
 PMID:21347589
 著者        Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L
 タイトル      Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
 雑誌        J Inherit Metab Dis 34:835-42 (2011)
 DOI:10.1007/s10545-011-9287-7
 PMID:22579592
 著者        Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ
 タイトル      Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
 雑誌        Mol Genet Metab 106:277-80 (2012)
 DOI:10.1016/j.ymgme.2012.04.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01364"">H01364</a>","HADH欠損症;
 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorder that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","HADH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3033"">3033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00022"">K00022</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535310"">C535310</a>
 OMIM: <a href=""https://www.omim.org/entry/231530"">231530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16176262"">16176262</a>
 著者        Yang SY, He XY, Schulz H
 タイトル      3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
 雑誌        FEBS J 272:4874-83 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1742-4658.2005.04911.x"">10.1111/j.1742-4658.2005.04911.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21347589"">21347589</a>
 著者        Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L
 タイトル      Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
 雑誌        J Inherit Metab Dis 34:835-42 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10545-011-9287-7"">10.1007/s10545-011-9287-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22579592"">22579592</a>
 著者        Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ
 タイトル      Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
 雑誌        Mol Genet Metab 106:277-80 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2012.04.005"">10.1016/j.ymgme.2012.04.005</a>"
H01365,"レーバー遺伝性視神経萎縮症 およびジストニア
 上位グループ    視神経萎縮症 [DS:H01020]
 ミトコンドリア病 [DS:H01427]",,,Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.,先天性代謝異常症,,"MT-ND6 [HSA:4541] [KO:K03884]
 MT-ND4 [HSA:4538] [KO:K03881]
 MT-ND1 [HSA:4535] [KO:K03878]
 MT-ND3 [HSA:4537] [KO:K03880]",,,,,,"ICD-11: 8C73.Y 9C40.B0
 ICD-10: H47.2
 MeSH: D029242
 OMIM: 500001","PMID:8016139
 著者        Jun AS, Brown MD, Wallace DC
 タイトル      A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
 雑誌        Proc Natl Acad Sci U S A 91:6206-10 (1994)
 DOI:10.1073/pnas.91.13.6206
 PMID:19458970
 著者        Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S
 タイトル      Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
 雑誌        Neurogenetics 10:337-45 (2009)
 DOI:10.1007/s10048-009-0194-0
 PMID:17562939
 著者        Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ
 タイトル      A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
 雑誌        Arch Neurol 64:890-3 (2007)
 DOI:10.1001/archneur.64.6.890","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01365"">H01365</a>","レーバー遺伝性視神経萎縮症 およびジストニア
 上位グループ    視神経萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01020"">H01020</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.,,"MT-ND6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4541"">4541</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03884"">K03884</a>]
 MT-ND4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4538"">4538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03881"">K03881</a>]
 MT-ND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4535"">4535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03878"">K03878</a>]
 MT-ND3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4537"">4537</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03880"">K03880</a>]",,,,,,"ICD-11: 8C73.Y 9C40.B0
 ICD-10: H47.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029242"">D029242</a>
 OMIM: <a href=""https://www.omim.org/entry/500001"">500001</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8016139"">8016139</a>
 著者        Jun AS, Brown MD, Wallace DC
 タイトル      A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
 雑誌        Proc Natl Acad Sci U S A 91:6206-10 (1994)
 DOI:<a href=""https://doi.org/10.1073/pnas.91.13.6206"">10.1073/pnas.91.13.6206</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19458970"">19458970</a>
 著者        Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S
 タイトル      Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
 雑誌        Neurogenetics 10:337-45 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10048-009-0194-0"">10.1007/s10048-009-0194-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17562939"">17562939</a>
 著者        Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ
 タイトル      A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
 雑誌        Arch Neurol 64:890-3 (2007)
 DOI:<a href=""https://doi.org/10.1001/archneur.64.6.890"">10.1001/archneur.64.6.890</a>"
H01366,細菌性結膜炎,,,"Bacterial conjunctivitis is an infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely to be caused by viral infection, but children are more likely to develop bacterial conjunctivitis than viral infection. The contact lens wearers are associated with an increased risk of conjunctivitis or keratitis.",感染症,,,"Haemophilus influenzae (nontypeable) [GN:hil]
 Streptococcus pneumoniae
 Moraxella catarrhalis",,,"クロラムフェニコール [DR:D00104]
 ゲンタマイシン硫酸塩 [DR:D01063]
 セフメノキシム塩酸塩 [DR:D01739]
 アジスロマイシン水和物 [DR:D02134]
 トブラマイシン [DR:D00063]
 ジベカシン硫酸塩 [DR:D01753]
 オフロキサシン [DR:D00453]
 ノルフロキサシン [DR:D00210]
 ロメフロキサシン塩酸塩 [DR:D00873]
 レボフロキサシン水和物 [DR:D00588]
 モキシフロキサシン塩酸塩 [DR:D00874]
 ガチフロキサシン水和物 [DR:D00589]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 エリスロマイシンラクトビオン酸塩・コリスチンメタンスルホン酸ナトリウム [DR:D04099]
 クロラムフェニコール・コリスチンメタンスルホン酸ナトリウム [DR:D04106]
 テトラサイクリン塩酸塩 [DR:D02122]
 ポリミキシンB硫酸塩 [DR:D01066]
 バンコマイシン塩酸塩 [DR:D00926]",,"ICD-11: 9A60
 ICD-10: H10.9
 MeSH: D003234","PMID:22348418
 著者        Epling J
 タイトル      Bacterial conjunctivitis.
 雑誌        BMJ Clin Evid 2012:0704 (2012)
 PMID:22377449 (pathogen)
 著者        Strouts FR, Power P, Croucher NJ, Corton N, van Tonder A, Quail MA, Langford PR, Hudson MJ, Parkhill J, Kroll JS, Bentley SD
 タイトル      Lineage-specific virulence determinants of Haemophilus influenzae biogroup aegyptius.
 雑誌        Emerg Infect Dis 18:449-57 (2012)
 DOI:10.3201/eid1803.110728","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01366"">H01366</a>",細菌性結膜炎,"Bacterial conjunctivitis is an infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely to be caused by viral infection, but children are more likely to develop bacterial conjunctivitis than viral infection. The contact lens wearers are associated with an increased risk of conjunctivitis or keratitis.",,,"Haemophilus influenzae (nontypeable) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hil"">hil</a>]
 Streptococcus pneumoniae
 Moraxella catarrhalis",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 ゲンタマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01063"">D01063</a>]
 セフメノキシム塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01739"">D01739</a>]
 アジスロマイシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02134"">D02134</a>]
 トブラマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00063"">D00063</a>]
 ジベカシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01753"">D01753</a>]
 オフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00453"">D00453</a>]
 ノルフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00210"">D00210</a>]
 ロメフロキサシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00873"">D00873</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 モキシフロキサシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00874"">D00874</a>]
 ガチフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00589"">D00589</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 エリスロマイシンラクトビオン酸塩・コリスチンメタンスルホン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04099"">D04099</a>]
 クロラムフェニコール・コリスチンメタンスルホン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04106"">D04106</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ポリミキシンB硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01066"">D01066</a>]
 バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]",,"ICD-11: 9A60
 ICD-10: H10.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003234"">D003234</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22348418"">22348418</a>
 著者        Epling J
 タイトル      Bacterial conjunctivitis.
 雑誌        BMJ Clin Evid 2012:0704 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22377449"">22377449</a> (pathogen)
 著者        Strouts FR, Power P, Croucher NJ, Corton N, van Tonder A, Quail MA, Langford PR, Hudson MJ, Parkhill J, Kroll JS, Bentley SD
 タイトル      Lineage-specific virulence determinants of Haemophilus influenzae biogroup aegyptius.
 雑誌        Emerg Infect Dis 18:449-57 (2012)
 DOI:<a href=""https://doi.org/10.3201/eid1803.110728"">10.3201/eid1803.110728</a>"
H01367,"小児肝不全
 下位グループ    小児肝不全症候群 (IFLS)
 一過性小児肝不全 (LFIT)
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with elevated liver transaminases, hypoglycemia, cholestasis, coagulopathy and hyperbilirubinemia. It has been reported that infantile liver failure syndrome is caused by mutations in aminoacyl-tRNA synthetase genes. A transient form of infantile liver failure is caused by mutation in the TRMU gene, which encodes a mitochondria specific tRNA-modifying enzyme.",先天性代謝異常症,,"(IFLS1) LARS [HSA:51520] [KO:K01869]
 (IFLS2) NBAS [HSA:51594] [KO:K20473]
 (IFLS3) RINT1 [HSA:60561] [KO:K20474]
 (LFIT) TRMU [HSA:55687] [KO:K21027]",,,,,,"ICD-11: 5C53.23 9A60.Y
 ICD-10: K72.0
 MeSH: D017093
 OMIM: 615438 616483 618641 613070","PMID:19732863
 著者        Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rotig A, Tarassov I, Elpeleg O
 タイトル      Acute infantile liver failure due to mutations in the TRMU gene.
 雑誌        Am J Hum Genet 85:401-7 (2009)
 DOI:10.1016/j.ajhg.2009.08.004
 PMID:22607940
 著者        Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S
 タイトル      Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
 雑誌        Mol Genet Metab 106:351-8 (2012)
 DOI:10.1016/j.ymgme.2012.04.017
 PMID:26073778
 著者        Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H
 タイトル      Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
 雑誌        Am J Hum Genet 97:163-9 (2015)
 DOI:10.1016/j.ajhg.2015.05.009
 PMID:31204009
 著者        Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW
 タイトル      RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
 雑誌        Am J Hum Genet 105:108-121 (2019)
 DOI:10.1016/j.ajhg.2019.05.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01367"">H01367</a>","小児肝不全
 下位グループ    小児肝不全症候群 (IFLS)
 一過性小児肝不全 (LFIT)
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with elevated liver transaminases, hypoglycemia, cholestasis, coagulopathy and hyperbilirubinemia. It has been reported that infantile liver failure syndrome is caused by mutations in aminoacyl-tRNA synthetase genes. A transient form of infantile liver failure is caused by mutation in the TRMU gene, which encodes a mitochondria specific tRNA-modifying enzyme.",,"(IFLS1) LARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51520"">51520</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01869"">K01869</a>]
 (IFLS2) NBAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51594"">51594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20473"">K20473</a>]
 (IFLS3) RINT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60561"">60561</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20474"">K20474</a>]
 (LFIT) TRMU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55687"">55687</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21027"">K21027</a>]",,,,,,"ICD-11: 5C53.23 9A60.Y
 ICD-10: K72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017093"">D017093</a>
 OMIM: <a href=""https://www.omim.org/entry/615438"">615438</a> <a href=""https://www.omim.org/entry/616483"">616483</a> <a href=""https://www.omim.org/entry/618641"">618641</a> <a href=""https://www.omim.org/entry/613070"">613070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19732863"">19732863</a>
 著者        Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rotig A, Tarassov I, Elpeleg O
 タイトル      Acute infantile liver failure due to mutations in the TRMU gene.
 雑誌        Am J Hum Genet 85:401-7 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.08.004"">10.1016/j.ajhg.2009.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22607940"">22607940</a>
 著者        Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S
 タイトル      Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
 雑誌        Mol Genet Metab 106:351-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2012.04.017"">10.1016/j.ymgme.2012.04.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26073778"">26073778</a>
 著者        Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H
 タイトル      Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
 雑誌        Am J Hum Genet 97:163-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.009"">10.1016/j.ajhg.2015.05.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31204009"">31204009</a>
 著者        Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW
 タイトル      RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
 雑誌        Am J Hum Genet 105:108-121 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.05.011"">10.1016/j.ajhg.2019.05.011</a>"
H01368,"チトクロムc酸化酵素欠損症;
 ミトコンドリア複合体 IV 欠損症 (MT-C4D)
 下位グループ    致死性乳児心臓脳筋症 (CEMCOX) [DS:H01200]
 リー症候群 フランス系カナダ人型 (LSFC)
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy.",先天代謝異常症; ミトコンドリア病,,"(MC4DN1) SURF1 [HSA:6834] [KO:K14998]
 (MC4DN2) SCO2 [HSA:9997] [KO:K23755]
 (MC4DN3) COX10 [HSA:1352] [KO:K02257]
 (MC4DN4) SCO1 [HSA:6341] [KO:K07152]
 (MC4DN5) LRPPRC [HSA:10128] [KO:K17964]
 (MC4DN6) COX15 [HSA:1355] [KO:K02259]
 (MC4DN7) COX6B1 [HSA:1340] [KO:K02267]
 (MC4DN8) TACO1 [HSA:51204] [KO:K18189]
 (MC4DN9) COA5 [HSA:493753] [KO:K18178]
 (MC4DN10) COX14 [HSA:84987] [KO:K18181]
 (MC4DN11) COX20 [HSA:116228] [KO:K18184]
 (MC4DN12) PET100 [HSA:100131801] [KO:K18186]
 (MC4DN13) COA6 [HSA:388753] [KO:K18179]
 (MC4DN14) COA3 [HSA:28958] [KO:K18175]
 (MC4DN15) COX8A [HSA:1351] [KO:K02273]
 (MC4DN16) COX4I1 [HSA:1327] [KO:K02263]
 (MC4DN17) COA8 [HSA:84334] [KO:K23506]
 (MC4DN18) COX6A2 [HSA:1339] [KO:K02266]
 (MC4DN19) PET117 [HSA:100303755] [KO:K18188]
 (MC4DN20) COX5A [HSA:9377] [KO:K02264]
 (MC4DN21) NDUFA4 [HSA:4697] [KO:K03948]
 (MC4DN22) COX16 [HSA:51241] [KO:K18182]
 (COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
 (MT-C4D) COX1 [HSA:4512] [KO:K02256]
 (MT-C4D) COX2 [HSA:4513] [KO:K02261]
 (MT-C4D) COX3 [HSA:4514] [KO:K02262]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: G71.3
 MeSH: D030401
 OMIM: 604377 619046 619048 220110 220111 615119 619051 619052 616500 619053 619054 619055 616501 619058 619059 619060 619061 619062 619063 619064 619065 618855 619355","PMID:11579424
 著者        Shoubridge EA
 タイトル      Cytochrome c oxidase deficiency.
 雑誌        Am J Med Genet 106:46-52 (2001)
 DOI:10.1002/ajmg.1378
 PMID:9843204 (SURF1)
 著者        Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA
 タイトル      SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
 雑誌        Nat Genet 20:337-43 (1998)
 DOI:10.1038/3804
 PMID:10545952 (SCO2)
 著者        Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA
 タイトル      Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
 雑誌        Nat Genet 23:333-7 (1999)
 DOI:10.1038/15513
 PMID:10767350 (COX10)
 著者        Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A
 タイトル      A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
 雑誌        Hum Mol Genet 9:1245-9 (2000)
 DOI:10.1093/hmg/9.8.1245
 PMID:11013136 (SCO1)
 著者        Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A
 タイトル      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
 雑誌        Am J Hum Genet 67:1104-9 (2000)
 DOI:10.1016/S0002-9297(07)62940-1
 PMID:12529507 (LRPPRC)
 著者        Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
 タイトル      Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
 雑誌        Proc Natl Acad Sci U S A 100:605-10 (2003)
 DOI:10.1073/pnas.242716699
 PMID:21412973 (COX15)
 著者        Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
 タイトル      Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
 雑誌        Am J Med Genet A 155A:840-4 (2011)
 DOI:10.1002/ajmg.a.33881
 PMID:18499082 (COX6B1)
 著者        Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M
 タイトル      Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
 雑誌        Am J Hum Genet 82:1281-9 (2008)
 DOI:10.1016/j.ajhg.2008.05.002
 PMID:19503089 (TACO1)
 著者        Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
 タイトル      Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
 雑誌        Nat Genet 41:833-7 (2009)
 DOI:10.1038/ng.390
 PMID:21457908 (COA5)
 著者        Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ
 タイトル      A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
 雑誌        Am J Hum Genet 88:488-93 (2011)
 DOI:10.1016/j.ajhg.2011.03.002
 PMID:22243966 (COX14)
 著者        Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Aure K, Rotig A, Lombes A, Shoubridge EA
 タイトル      Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
 雑誌        Am J Hum Genet 90:142-51 (2012)
 DOI:10.1016/j.ajhg.2011.11.027
 PMID:23125284 (COX20)
 著者        Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP
 タイトル      A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
 雑誌        Hum Mol Genet 22:656-67 (2013)
 DOI:10.1093/hmg/dds473
 PMID:24462369 (PET100)
 著者        Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR
 タイトル      A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
 雑誌        Am J Hum Genet 94:209-22 (2014)
 DOI:10.1016/j.ajhg.2013.12.015
 PMID:25339201 (COA6)
 著者        Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
 雑誌        Hum Mutat 36:34-8 (2015)
 DOI:10.1002/humu.22715
 PMID:25604084 (COA3)
 著者        Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J
 タイトル      Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
 雑誌        J Med Genet 52:203-7 (2015)
 DOI:10.1136/jmedgenet-2014-102914
 PMID:26685157 (COX8A)
 著者        Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS
 タイトル      Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
 雑誌        Brain 139:338-45 (2016)
 DOI:10.1093/brain/awv357
 PMID:28766551 (COX4I1)
 著者        Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A
 タイトル      Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
 雑誌        Eur J Hum Genet 25:1142-1146 (2017)
 DOI:10.1038/ejhg.2017.112
 PMID:25175347 (COA8)
 著者        Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M
 タイトル      Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
 雑誌        Am J Hum Genet 95:315-25 (2014)
 DOI:10.1016/j.ajhg.2014.08.003
 PMID:31155743 (COX6A2)
 著者        Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I
 タイトル      COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
 雑誌        Ann Neurol 86:193-202 (2019)
 DOI:10.1002/ana.25517
 PMID:28386624 (PET117)
 著者        Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT
 タイトル      Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
 雑誌        Hum Genet 136:759-769 (2017)
 DOI:10.1007/s00439-017-1794-7
 PMID:28247525 (COX5A)
 著者        Baertling F, Al-Murshedi F, Sanchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
 雑誌        Hum Mutat 38:692-703 (2017)
 DOI:10.1002/humu.23210
 PMID:23746447 (NDUFA4)
 著者        Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG
 タイトル      NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
 雑誌        Cell Rep 3:1795-805 (2013)
 DOI:10.1016/j.celrep.2013.05.005
 PMID:33169484 (COX16)
 著者        Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT
 タイトル      A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
 雑誌        Hum Mutat 42:135-141 (2021)
 DOI:10.1002/humu.24137
 PMID:18771761 (FASTKD2)
 著者        Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M
 タイトル      FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
 雑誌        Am J Hum Genet 83:415-23 (2008)
 DOI:10.1016/j.ajhg.2008.08.009
 PMID:10441567 (COX1)
 著者        Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G
 タイトル      A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
 雑誌        Am J Hum Genet 65:611-20 (1999)
 DOI:10.1086/302546
 PMID:10205264 (COX2)
 著者        Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM
 タイトル      An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
 雑誌        Am J Hum Genet 64:1330-9 (1999)
 DOI:10.1086/302361
 PMID:8630495 (COX3)
 著者        Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG
 タイトル      A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
 雑誌        Nat Genet 12:410-6 (1996)
 DOI:10.1038/ng0496-410","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01368"">H01368</a>","チトクロムc酸化酵素欠損症;
 ミトコンドリア複合体 IV 欠損症 (MT-C4D)
 下位グループ    致死性乳児心臓脳筋症 (CEMCOX) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01200"">H01200</a>]
 リー症候群 フランス系カナダ人型 (LSFC)
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy.",,"(MC4DN1) SURF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6834"">6834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14998"">K14998</a>]
 (MC4DN2) SCO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9997"">9997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23755"">K23755</a>]
 (MC4DN3) COX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1352"">1352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02257"">K02257</a>]
 (MC4DN4) SCO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6341"">6341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07152"">K07152</a>]
 (MC4DN5) LRPPRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10128"">10128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17964"">K17964</a>]
 (MC4DN6) COX15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1355"">1355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02259"">K02259</a>]
 (MC4DN7) COX6B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1340"">1340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02267"">K02267</a>]
 (MC4DN8) TACO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51204"">51204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18189"">K18189</a>]
 (MC4DN9) COA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:493753"">493753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18178"">K18178</a>]
 (MC4DN10) COX14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84987"">84987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18181"">K18181</a>]
 (MC4DN11) COX20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116228"">116228</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18184"">K18184</a>]
 (MC4DN12) PET100 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100131801"">100131801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18186"">K18186</a>]
 (MC4DN13) COA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388753"">388753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18179"">K18179</a>]
 (MC4DN14) COA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28958"">28958</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18175"">K18175</a>]
 (MC4DN15) COX8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1351"">1351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02273"">K02273</a>]
 (MC4DN16) COX4I1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1327"">1327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02263"">K02263</a>]
 (MC4DN17) COA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84334"">84334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23506"">K23506</a>]
 (MC4DN18) COX6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1339"">1339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02266"">K02266</a>]
 (MC4DN19) PET117 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100303755"">100303755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18188"">K18188</a>]
 (MC4DN20) COX5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9377"">9377</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02264"">K02264</a>]
 (MC4DN21) NDUFA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4697"">4697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03948"">K03948</a>]
 (MC4DN22) COX16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51241"">51241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18182"">K18182</a>]
 (COXPD44) FASTKD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22868"">22868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18190"">K18190</a>]
 (MT-C4D) COX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4512"">4512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02256"">K02256</a>]
 (MT-C4D) COX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4513"">4513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02261"">K02261</a>]
 (MT-C4D) COX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4514"">4514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02262"">K02262</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: G71.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D030401"">D030401</a>
 OMIM: <a href=""https://www.omim.org/entry/604377"">604377</a> <a href=""https://www.omim.org/entry/619046"">619046</a> <a href=""https://www.omim.org/entry/619048"">619048</a> <a href=""https://www.omim.org/entry/220110"">220110</a> <a href=""https://www.omim.org/entry/220111"">220111</a> <a href=""https://www.omim.org/entry/615119"">615119</a> <a href=""https://www.omim.org/entry/619051"">619051</a> <a href=""https://www.omim.org/entry/619052"">619052</a> <a href=""https://www.omim.org/entry/616500"">616500</a> <a href=""https://www.omim.org/entry/619053"">619053</a> <a href=""https://www.omim.org/entry/619054"">619054</a> <a href=""https://www.omim.org/entry/619055"">619055</a> <a href=""https://www.omim.org/entry/616501"">616501</a> <a href=""https://www.omim.org/entry/619058"">619058</a> <a href=""https://www.omim.org/entry/619059"">619059</a> <a href=""https://www.omim.org/entry/619060"">619060</a> <a href=""https://www.omim.org/entry/619061"">619061</a> <a href=""https://www.omim.org/entry/619062"">619062</a> <a href=""https://www.omim.org/entry/619063"">619063</a> <a href=""https://www.omim.org/entry/619064"">619064</a> <a href=""https://www.omim.org/entry/619065"">619065</a> <a href=""https://www.omim.org/entry/618855"">618855</a> <a href=""https://www.omim.org/entry/619355"">619355</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11579424"">11579424</a>
 著者        Shoubridge EA
 タイトル      Cytochrome c oxidase deficiency.
 雑誌        Am J Med Genet 106:46-52 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1378"">10.1002/ajmg.1378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9843204"">9843204</a> (SURF1)
 著者        Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA
 タイトル      SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
 雑誌        Nat Genet 20:337-43 (1998)
 DOI:<a href=""https://doi.org/10.1038/3804"">10.1038/3804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10545952"">10545952</a> (SCO2)
 著者        Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA
 タイトル      Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
 雑誌        Nat Genet 23:333-7 (1999)
 DOI:<a href=""https://doi.org/10.1038/15513"">10.1038/15513</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10767350"">10767350</a> (COX10)
 著者        Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A
 タイトル      A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
 雑誌        Hum Mol Genet 9:1245-9 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.8.1245"">10.1093/hmg/9.8.1245</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11013136"">11013136</a> (SCO1)
 著者        Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A
 タイトル      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
 雑誌        Am J Hum Genet 67:1104-9 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0002-9297(07)62940-1"">10.1016/S0002-9297(07)62940-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12529507"">12529507</a> (LRPPRC)
 著者        Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
 タイトル      Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
 雑誌        Proc Natl Acad Sci U S A 100:605-10 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.242716699"">10.1073/pnas.242716699</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412973"">21412973</a> (COX15)
 著者        Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
 タイトル      Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
 雑誌        Am J Med Genet A 155A:840-4 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33881"">10.1002/ajmg.a.33881</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18499082"">18499082</a> (COX6B1)
 著者        Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M
 タイトル      Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
 雑誌        Am J Hum Genet 82:1281-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.05.002"">10.1016/j.ajhg.2008.05.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19503089"">19503089</a> (TACO1)
 著者        Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA
 タイトル      Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
 雑誌        Nat Genet 41:833-7 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.390"">10.1038/ng.390</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21457908"">21457908</a> (COA5)
 著者        Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ
 タイトル      A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
 雑誌        Am J Hum Genet 88:488-93 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.002"">10.1016/j.ajhg.2011.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22243966"">22243966</a> (COX14)
 著者        Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Aure K, Rotig A, Lombes A, Shoubridge EA
 タイトル      Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
 雑誌        Am J Hum Genet 90:142-51 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.027"">10.1016/j.ajhg.2011.11.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23125284"">23125284</a> (COX20)
 著者        Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP
 タイトル      A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
 雑誌        Hum Mol Genet 22:656-67 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds473"">10.1093/hmg/dds473</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24462369"">24462369</a> (PET100)
 著者        Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR
 タイトル      A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
 雑誌        Am J Hum Genet 94:209-22 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.015"">10.1016/j.ajhg.2013.12.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25339201"">25339201</a> (COA6)
 著者        Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
 雑誌        Hum Mutat 36:34-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22715"">10.1002/humu.22715</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25604084"">25604084</a> (COA3)
 著者        Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J
 タイトル      Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
 雑誌        J Med Genet 52:203-7 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102914"">10.1136/jmedgenet-2014-102914</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26685157"">26685157</a> (COX8A)
 著者        Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS
 タイトル      Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
 雑誌        Brain 139:338-45 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/awv357"">10.1093/brain/awv357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28766551"">28766551</a> (COX4I1)
 著者        Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A
 タイトル      Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
 雑誌        Eur J Hum Genet 25:1142-1146 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.112"">10.1038/ejhg.2017.112</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25175347"">25175347</a> (COA8)
 著者        Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M
 タイトル      Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
 雑誌        Am J Hum Genet 95:315-25 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.08.003"">10.1016/j.ajhg.2014.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31155743"">31155743</a> (COX6A2)
 著者        Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I
 タイトル      COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
 雑誌        Ann Neurol 86:193-202 (2019)
 DOI:<a href=""https://doi.org/10.1002/ana.25517"">10.1002/ana.25517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28386624"">28386624</a> (PET117)
 著者        Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT
 タイトル      Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
 雑誌        Hum Genet 136:759-769 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-017-1794-7"">10.1007/s00439-017-1794-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28247525"">28247525</a> (COX5A)
 著者        Baertling F, Al-Murshedi F, Sanchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ
 タイトル      Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
 雑誌        Hum Mutat 38:692-703 (2017)
 DOI:<a href=""https://doi.org/10.1002/humu.23210"">10.1002/humu.23210</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23746447"">23746447</a> (NDUFA4)
 著者        Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG
 タイトル      NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
 雑誌        Cell Rep 3:1795-805 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.celrep.2013.05.005"">10.1016/j.celrep.2013.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33169484"">33169484</a> (COX16)
 著者        Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT
 タイトル      A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
 雑誌        Hum Mutat 42:135-141 (2021)
 DOI:<a href=""https://doi.org/10.1002/humu.24137"">10.1002/humu.24137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18771761"">18771761</a> (FASTKD2)
 著者        Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M
 タイトル      FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
 雑誌        Am J Hum Genet 83:415-23 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.08.009"">10.1016/j.ajhg.2008.08.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10441567"">10441567</a> (COX1)
 著者        Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G
 タイトル      A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
 雑誌        Am J Hum Genet 65:611-20 (1999)
 DOI:<a href=""https://doi.org/10.1086/302546"">10.1086/302546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10205264"">10205264</a> (COX2)
 著者        Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM
 タイトル      An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
 雑誌        Am J Hum Genet 64:1330-9 (1999)
 DOI:<a href=""https://doi.org/10.1086/302361"">10.1086/302361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8630495"">8630495</a> (COX3)
 著者        Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG
 タイトル      A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
 雑誌        Nat Genet 12:410-6 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0496-410"">10.1038/ng0496-410</a>"
H01369,"ATP合成酵素欠損症
 下位グループ    ミトコンドリア呼吸鎖複合体 V 欠損症 核型
 ミトコンドリア呼吸鎖複合体 V 欠損症 ミトコンドリア型
 NARP 症候群 [DS:H01363]
 ミトコンドリア小児両側線条体壊死
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations has been found in a nuclear encoded structural complex V subunit, ATP5E and ATP5A1.",先天性代謝異常症; ミトコンドリア病,,"(MC5DN1) ATPAF2 [HSA:91647] [KO:K07556]
 (MC5DN2) TMEM70 [HSA:54968] [KO:K17966]
 (MC5DN3) ATP5E [HSA:514] [KO:K02135]
 (MC5DN4) ATP5A1 [HSA:498] [KO:K02132]
 (MC5DN5) ATP5F1D [HSA:513] [KO:K02134]
 (MC5DN6) ATP5MD [HSA:84833] [KO:K18194]
 (MC5DM1/NARP/MIBSN) MT-ATP6 [HSA:4508] [KO:K02126]
 (MC5DM2) MT-ATP8 [HSA:4509] [KO:K02125]",,,,,,"ICD-11: 5C53.25
 ICD-10: G71.3
 MeSH: C567528
 OMIM: 604273 614052 514053 615228 618120 618683 551500 500003 516060 516070","PMID:20566710
 著者        Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J
 タイトル      Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
 雑誌        Hum Mol Genet 19:3430-9 (2010)
 DOI:10.1093/hmg/ddq254
 PMID:19188198
 著者        Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ
 タイトル      Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
 雑誌        J Med Genet 46:308-14 (2009)
 DOI:10.1136/jmg.2008.063149
 PMID:23599390
 著者        Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ
 タイトル      A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
 雑誌        Brain 136:1544-54 (2013)
 DOI:10.1093/brain/awt086
 PMID:7668837
 著者        Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S
 タイトル      A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
 雑誌        Ann Neurol 38:468-72 (1995)
 DOI:10.1002/ana.410380321
 PMID:18953340
 著者        Cizkova A, Stranecky V, Mayr JA, Tesarova M, Havlickova V, Paul J, Ivanek R, Kuss AW, Hansikova H, Kaplanova V, Vrbacky M, Hartmannova H, Noskova L, Honzik T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S
 タイトル      TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
 雑誌        Nat Genet 40:1288-90 (2008)
 DOI:10.1038/ng.246
 PMID:29478781
 著者        Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT
 タイトル      Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
 雑誌        Am J Hum Genet 102:494-504 (2018)
 DOI:10.1016/j.ajhg.2018.01.020
 PMID:29917077
 著者        Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ
 タイトル      USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
 雑誌        Hum Mol Genet 27:3305-3312 (2018)
 DOI:10.1093/hmg/ddy231","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01369"">H01369</a>","ATP合成酵素欠損症
 下位グループ    ミトコンドリア呼吸鎖複合体 V 欠損症 核型
 ミトコンドリア呼吸鎖複合体 V 欠損症 ミトコンドリア型
 NARP 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01363"">H01363</a>]
 ミトコンドリア小児両側線条体壊死
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations has been found in a nuclear encoded structural complex V subunit, ATP5E and ATP5A1.",,"(MC5DN1) ATPAF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91647"">91647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07556"">K07556</a>]
 (MC5DN2) TMEM70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54968"">54968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17966"">K17966</a>]
 (MC5DN3) ATP5E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:514"">514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02135"">K02135</a>]
 (MC5DN4) ATP5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:498"">498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02132"">K02132</a>]
 (MC5DN5) ATP5F1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:513"">513</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02134"">K02134</a>]
 (MC5DN6) ATP5MD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84833"">84833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18194"">K18194</a>]
 (MC5DM1/NARP/MIBSN) MT-ATP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4508"">4508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02126"">K02126</a>]
 (MC5DM2) MT-ATP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4509"">4509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02125"">K02125</a>]",,,,,,"ICD-11: 5C53.25
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567528"">C567528</a>
 OMIM: <a href=""https://www.omim.org/entry/604273"">604273</a> <a href=""https://www.omim.org/entry/614052"">614052</a> <a href=""https://www.omim.org/entry/514053"">514053</a> <a href=""https://www.omim.org/entry/615228"">615228</a> <a href=""https://www.omim.org/entry/618120"">618120</a> <a href=""https://www.omim.org/entry/618683"">618683</a> <a href=""https://www.omim.org/entry/551500"">551500</a> <a href=""https://www.omim.org/entry/500003"">500003</a> <a href=""https://www.omim.org/entry/516060"">516060</a> <a href=""https://www.omim.org/entry/516070"">516070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20566710"">20566710</a>
 著者        Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J
 タイトル      Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
 雑誌        Hum Mol Genet 19:3430-9 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq254"">10.1093/hmg/ddq254</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19188198"">19188198</a>
 著者        Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ
 タイトル      Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
 雑誌        J Med Genet 46:308-14 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.063149"">10.1136/jmg.2008.063149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23599390"">23599390</a>
 著者        Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ
 タイトル      A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
 雑誌        Brain 136:1544-54 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt086"">10.1093/brain/awt086</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7668837"">7668837</a>
 著者        Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S
 タイトル      A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
 雑誌        Ann Neurol 38:468-72 (1995)
 DOI:<a href=""https://doi.org/10.1002/ana.410380321"">10.1002/ana.410380321</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18953340"">18953340</a>
 著者        Cizkova A, Stranecky V, Mayr JA, Tesarova M, Havlickova V, Paul J, Ivanek R, Kuss AW, Hansikova H, Kaplanova V, Vrbacky M, Hartmannova H, Noskova L, Honzik T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S
 タイトル      TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
 雑誌        Nat Genet 40:1288-90 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.246"">10.1038/ng.246</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29478781"">29478781</a>
 著者        Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT
 タイトル      Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
 雑誌        Am J Hum Genet 102:494-504 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.01.020"">10.1016/j.ajhg.2018.01.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29917077"">29917077</a>
 著者        Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ
 タイトル      USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
 雑誌        Hum Mol Genet 27:3305-3312 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy231"">10.1093/hmg/ddy231</a>"
H01370,SHORT 症候群,,,"SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome.",先天奇形,,PIK3R1 [HSA:5295] [KO:K02649],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: C537327
 OMIM: 269880","PMID:23810379
 著者        Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR
 タイトル      SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
 雑誌        Am J Hum Genet 93:150-7 (2013)
 DOI:10.1016/j.ajhg.2013.05.023
 PMID:23810382
 著者        Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM
 タイトル      Mutations in PIK3R1 cause SHORT syndrome.
 雑誌        Am J Hum Genet 93:158-66 (2013)
 DOI:10.1016/j.ajhg.2013.06.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01370"">H01370</a>",SHORT 症候群,"SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome.",,"PIK3R1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5295"">5295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02649"">K02649</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537327"">C537327</a>
 OMIM: <a href=""https://www.omim.org/entry/269880"">269880</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23810379"">23810379</a>
 著者        Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR
 タイトル      SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
 雑誌        Am J Hum Genet 93:150-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.023"">10.1016/j.ajhg.2013.05.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23810382"">23810382</a>
 著者        Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM
 タイトル      Mutations in PIK3R1 cause SHORT syndrome.
 雑誌        Am J Hum Genet 93:158-66 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.005"">10.1016/j.ajhg.2013.06.005</a>"
H01371,特発性乳児高カルシウム血症,,,"Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia.",先天性代謝異常症,,"(HCINF1) CYP24A1 [HSA:1591] [KO:K07436]
 (HCINF2) SLC34A1 [HSA:6569] [KO:K14683]",,VitaminD [CPD:C05443],,,,"ICD-11: 5C64.5
 ICD-10: E83.5
 MeSH: C562581
 OMIM: 143880 616963","PMID:21675912 (CYP24A1)
 著者        Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M
 タイトル      Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
 雑誌        N Engl J Med 365:410-21 (2011)
 DOI:10.1056/NEJMoa1103864
 PMID:26047794 (SLC34A1)
 著者        Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M
 タイトル      Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
 雑誌        J Am Soc Nephrol 27:604-14 (2016)
 DOI:10.1681/ASN.2014101025","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01371"">H01371</a>",特発性乳児高カルシウム血症,"Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia.",,"(HCINF1) CYP24A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1591"">1591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07436"">K07436</a>]
 (HCINF2) SLC34A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6569"">6569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]",,"VitaminD [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C05443"">C05443</a>]",,,,"ICD-11: 5C64.5
 ICD-10: E83.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562581"">C562581</a>
 OMIM: <a href=""https://www.omim.org/entry/143880"">143880</a> <a href=""https://www.omim.org/entry/616963"">616963</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21675912"">21675912</a> (CYP24A1)
 著者        Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M
 タイトル      Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
 雑誌        N Engl J Med 365:410-21 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1103864"">10.1056/NEJMoa1103864</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26047794"">26047794</a> (SLC34A1)
 著者        Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M
 タイトル      Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
 雑誌        J Am Soc Nephrol 27:604-14 (2016)
 DOI:<a href=""https://doi.org/10.1681/ASN.2014101025"">10.1681/ASN.2014101025</a>"
H01372,"尋常性白斑
 下位グループ    多発性自己免疫疾患を伴う白斑 (VAMAS)",,,"Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1.",皮膚疾患,,"(VAMAS1) NLRP1 [HSA:22861] [KO:K12798]
 (VAMAS2) FOXD3 [HSA:27022] [KO:K09397]",,,,"フルオシノニド [DR:D00325]
 フルドロキシコルチド [DR:D00328]
 カルプロニウム塩化物 [DR:D01175]
 カルプロニウム塩化物水和物 [DR:D09752]
 メトキサレン [DR:D00139]",,"ICD-11: ED63.0
 ICD-10: L80
 MeSH: D014820
 OMIM: 606579 607836","PMID:17637824
 著者        Jin Y, Birlea SA, Fain PR, Spritz RA
 タイトル      Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population.
 雑誌        J Invest Dermatol 127:2558-62 (2007)
 DOI:10.1038/sj.jid.5700953
 PMID:22117610
 著者        D'Osualdo A, Reed JC
 タイトル      NLRP1, a regulator of innate immunity associated with vitiligo.
 雑誌        Pigment Cell Melanoma Res 25:5-8 (2012)
 DOI:10.1111/j.1755-148X.2011.00942.x
 PMID:22835073
 著者        Colucci R, Lotti T, Moretti S
 タイトル      Vitiligo: an update on current pharmacotherapy and future directions.
 雑誌        Expert Opin Pharmacother 13:1885-99 (2012)
 DOI:10.1517/14656566.2012.712113
 PMID:26267147
 著者        Schunter JA, Loffler D, Wiesner T, Kovacs P, Badenhoop K, Aust G, Tonjes A, Muller P, Baber R, Simon JC, Fuhrer D, Pfaffle RW, Thiery J, Stumvoll M, Kiess W, Kratzsch J, Korner A
 タイトル      A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies.
 雑誌        J Clin Endocrinol Metab 100:E1335-42 (2015)
 DOI:10.1210/jc.2015-2126","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01372"">H01372</a>","尋常性白斑
 下位グループ    多発性自己免疫疾患を伴う白斑 (VAMAS)","Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1.",,"(VAMAS1) NLRP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22861"">22861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12798"">K12798</a>]
 (VAMAS2) FOXD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27022"">27022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09397"">K09397</a>]",,,,"フルオシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00325"">D00325</a>]
 フルドロキシコルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00328"">D00328</a>]
 カルプロニウム塩化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01175"">D01175</a>]
 カルプロニウム塩化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09752"">D09752</a>]
 メトキサレン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00139"">D00139</a>]",,"ICD-11: ED63.0
 ICD-10: L80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014820"">D014820</a>
 OMIM: <a href=""https://www.omim.org/entry/606579"">606579</a> <a href=""https://www.omim.org/entry/607836"">607836</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17637824"">17637824</a>
 著者        Jin Y, Birlea SA, Fain PR, Spritz RA
 タイトル      Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population.
 雑誌        J Invest Dermatol 127:2558-62 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.jid.5700953"">10.1038/sj.jid.5700953</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22117610"">22117610</a>
 著者        D'Osualdo A, Reed JC
 タイトル      NLRP1, a regulator of innate immunity associated with vitiligo.
 雑誌        Pigment Cell Melanoma Res 25:5-8 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1755-148X.2011.00942.x"">10.1111/j.1755-148X.2011.00942.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22835073"">22835073</a>
 著者        Colucci R, Lotti T, Moretti S
 タイトル      Vitiligo: an update on current pharmacotherapy and future directions.
 雑誌        Expert Opin Pharmacother 13:1885-99 (2012)
 DOI:<a href=""https://doi.org/10.1517/14656566.2012.712113"">10.1517/14656566.2012.712113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26267147"">26267147</a>
 著者        Schunter JA, Loffler D, Wiesner T, Kovacs P, Badenhoop K, Aust G, Tonjes A, Muller P, Baber R, Simon JC, Fuhrer D, Pfaffle RW, Thiery J, Stumvoll M, Kiess W, Kratzsch J, Korner A
 タイトル      A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies.
 雑誌        J Clin Endocrinol Metab 100:E1335-42 (2015)
 DOI:<a href=""https://doi.org/10.1210/jc.2015-2126"">10.1210/jc.2015-2126</a>"
H01373,Achromobacter xylosoxidans 感染,,,"Achromobacter xylosoxidans, also known as Alcaligenes xylosoxidans, is an environmental opportunistic pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer, advanced HIV, diabetes mellitus or chronic renal failure. This bacterium can rarely cause keratitis in patients who had worn contact lenses.",感染症,,,Achromobacter xylosoxidans [GN:axo axn],,,,Please see H01081.,,"PMID:23894309
 著者        Jakobsen TH, Hansen MA, Jensen PO, Hansen L, Riber L, Cockburn A, Kolpen M, Ronne Hansen C, Ridderberg W, Eickhardt S, Hansen M, Kerpedjiev P, Alhede M, Qvortrup K, Burmolle M, Moser C, Kuhl M, Ciofu O, Givskov M, Sorensen SJ, Hoiby N, Bjarnsholt T
 タイトル      Complete genome sequence of the cystic fibrosis pathogen Achromobacter xylosoxidans NH44784-1996 complies with important pathogenic phenotypes.
 雑誌        PLoS One 8:e68484 (2013)
 DOI:10.1371/journal.pone.0068484","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01373"">H01373</a>",Achromobacter xylosoxidans 感染,"Achromobacter xylosoxidans, also known as Alcaligenes xylosoxidans, is an environmental opportunistic pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer, advanced HIV, diabetes mellitus or chronic renal failure. This bacterium can rarely cause keratitis in patients who had worn contact lenses.",,,"Achromobacter xylosoxidans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:axo"">axo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:axn"">axn</a>]",,,,"Please see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01081."">H01081.</a>",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23894309"">23894309</a>
 著者        Jakobsen TH, Hansen MA, Jensen PO, Hansen L, Riber L, Cockburn A, Kolpen M, Ronne Hansen C, Ridderberg W, Eickhardt S, Hansen M, Kerpedjiev P, Alhede M, Qvortrup K, Burmolle M, Moser C, Kuhl M, Ciofu O, Givskov M, Sorensen SJ, Hoiby N, Bjarnsholt T
 タイトル      Complete genome sequence of the cystic fibrosis pathogen Achromobacter xylosoxidans NH44784-1996 complies with important pathogenic phenotypes.
 雑誌        PLoS One 8:e68484 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0068484"">10.1371/journal.pone.0068484</a>"
H01374,Helicobacter cinaedi 感染,,,"Helicobacter cinaedi (previously called Campylobacter cinaedi) causes cellulitis, bacteremia and diarrhea frequently in immunocompromised patients and occasionally in immunocompetent individuals. In addition to these things, Nosocomial H. cinaedi infections have recently been reported.",感染症,,,Helicobacter cinaedi [GN:hcp hcb],,,,,MeSH: D016481,"PMID:22740670
 著者        Goto T, Ogura Y, Hirakawa H, Tomida J, Morita Y, Akaike T, Hayashi T, Kawamura Y
 タイトル      Complete genome sequence of Helicobacter cinaedi strain PAGU611, isolated in a case of human bacteremia.
 雑誌        J Bacteriol 194:3744-5 (2012)
 DOI:10.1128/JB.00645-12
 PMID:23012276
 著者        Miyoshi-Akiyama T, Takeshita N, Ohmagari N, Kirikae T
 タイトル      Complete genome sequence of Helicobacter cinaedi type strain ATCC BAA-847.
 雑誌        J Bacteriol 194:5692 (2012)
 DOI:10.1128/JB.01347-12","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01374"">H01374</a>",Helicobacter cinaedi 感染,"Helicobacter cinaedi (previously called Campylobacter cinaedi) causes cellulitis, bacteremia and diarrhea frequently in immunocompromised patients and occasionally in immunocompetent individuals. In addition to these things, Nosocomial H. cinaedi infections have recently been reported.",,,"Helicobacter cinaedi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hcp"">hcp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hcb"">hcb</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016481"">D016481</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22740670"">22740670</a>
 著者        Goto T, Ogura Y, Hirakawa H, Tomida J, Morita Y, Akaike T, Hayashi T, Kawamura Y
 タイトル      Complete genome sequence of Helicobacter cinaedi strain PAGU611, isolated in a case of human bacteremia.
 雑誌        J Bacteriol 194:3744-5 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.00645-12"">10.1128/JB.00645-12</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23012276"">23012276</a>
 著者        Miyoshi-Akiyama T, Takeshita N, Ohmagari N, Kirikae T
 タイトル      Complete genome sequence of Helicobacter cinaedi type strain ATCC BAA-847.
 雑誌        J Bacteriol 194:5692 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.01347-12"">10.1128/JB.01347-12</a>"
H01375,"グルコース-6-リン酸脱水素酵素欠損症
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]
 グルタチオン代謝障害による貧血 [DS:H00668]",,,"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans.",先天性代謝異常症,nt06026  Glutathione biosynthesis,G6PD [HSA:2539] [KO:K00036],,,,,,"ICD-11: 3A10.00
 ICD-10: D55.0
 MeSH: D005955
 OMIM: 300908","PMID:18177777 (Common mutations,
 Drugs and Chemicals Associated With Hemolysis in G6PD Deficiency)
 著者        Cappellini MD, Fiorelli G
 タイトル      Glucose-6-phosphate dehydrogenase deficiency.
 雑誌        Lancet 371:64-74 (2008)
 DOI:10.1016/S0140-6736(08)60073-2
 PMID:17365988
 著者        Ronquist G, Theodorsson E
 タイトル      Inherited, non-spherocytic haemolysis due to deficiency of glucose-6-phosphate dehydrogenase.
 雑誌        Scand J Clin Lab Invest 67:105-11 (2007)
 DOI:10.1080/00365510601047910
 PMID:19769422 (Drugs and Chemicals Associated With Hemolysis in G6PD Deficiency)
 著者        Elyassi AR, Rowshan HH
 タイトル      Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature.
 雑誌        Anesth Prog 56:86-91 (2009)
 DOI:10.2344/0003-3006-56.3.86","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01375"">H01375</a>","グルコース-6-リン酸脱水素酵素欠損症
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 グルタチオン代謝障害による貧血 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00668"">H00668</a>]","Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans.","<a href=""https://www.kegg.jp/network/nt06026"">nt06026</a>  Glutathione biosynthesis","G6PD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2539"">2539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00036"">K00036</a>]",,,,,,"ICD-11: 3A10.00
 ICD-10: D55.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005955"">D005955</a>
 OMIM: <a href=""https://www.omim.org/entry/300908"">300908</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18177777"">18177777</a> (Common <a href=""https://pubmed.ncbi.nlm.nih.gov/mutations,"">mutations,</a>
 Drugs and Chemicals Associated With Hemolysis in G6PD Deficiency)
 著者        Cappellini MD, Fiorelli G
 タイトル      Glucose-6-phosphate dehydrogenase deficiency.
 雑誌        Lancet 371:64-74 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60073-2"">10.1016/S0140-6736(08)60073-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17365988"">17365988</a>
 著者        Ronquist G, Theodorsson E
 タイトル      Inherited, non-spherocytic haemolysis due to deficiency of glucose-6-phosphate dehydrogenase.
 雑誌        Scand J Clin Lab Invest 67:105-11 (2007)
 DOI:<a href=""https://doi.org/10.1080/00365510601047910"">10.1080/00365510601047910</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19769422"">19769422</a> (Drugs <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Chemicals"">Chemicals</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Associated"">Associated</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/With"">With</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Hemolysis"">Hemolysis</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/in"">in</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/G6PD"">G6PD</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/Deficiency)"">Deficiency)</a>
 著者        Elyassi AR, Rowshan HH
 タイトル      Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature.
 雑誌        Anesth Prog 56:86-91 (2009)
 DOI:<a href=""https://doi.org/10.2344/0003-3006-56.3.86"">10.2344/0003-3006-56.3.86</a>"
H01376,"四肢顔面骨形成不全症
 下位グループ    ナジェ症候群
 Miller (Genee-Wiedemann) 症候群
 Weyers 四肢顔面骨形成不全症 [DS:H02158]
 Cincinnati 型四肢顔面骨形成不全症",,,"Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.",先天奇形,,"DHODH [HSA:1723] [KO:K00254]
 SF3B4 [HSA:10262] [KO:K12831]
 EVC2 [HSA:132884] [KO:K19608]
 POLR1A [HSA:25885] [KO:K02999]",,,,,,"ICD-11: LD25.2
 ICD-10: Q75.4
 MeSH: C537680 C538182 C538183 C538184 C538185
 OMIM: 154400 263750 193530 616462","PMID:8266994
 著者        Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
 タイトル      Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
 雑誌        Am J Med Genet 47:660-78 (1993)
 DOI:10.1002/ajmg.1320470517
 PMID:24123981
 著者        Trainor PA, Andrews BT
 タイトル      Facial dysostoses: Etiology, pathogenesis and management.
 雑誌        Am J Med Genet C Semin Med Genet 163:283-94 (2013)
 DOI:10.1002/ajmg.c.31375
 PMID:17674260
 著者        Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D
 タイトル      Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
 雑誌        J Matern Fetal Neonatal Med 20:487-90 (2007)
 DOI:10.1080/14767050701398447
 PMID:23565775
 著者        Wieczorek D
 タイトル      Human facial dysostoses.
 雑誌        Clin Genet 83:499-510 (2013)
 DOI:10.1111/cge.12123
 PMID:16404586
 著者        Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z
 タイトル      A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
 雑誌        Hum Genet 119:199-205 (2006)
 DOI:10.1007/s00439-005-0129-2
 PMID:25913037
 著者        Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM
 タイトル      Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
 雑誌        Am J Hum Genet 96:765-74 (2015)
 DOI:10.1016/j.ajhg.2015.03.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01376"">H01376</a>","四肢顔面骨形成不全症
 下位グループ    ナジェ症候群
 Miller (Genee-Wiedemann) 症候群
 Weyers 四肢顔面骨形成不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02158"">H02158</a>]
 Cincinnati 型四肢顔面骨形成不全症","Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.",,"DHODH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1723"">1723</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00254"">K00254</a>]
 SF3B4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10262"">10262</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12831"">K12831</a>]
 EVC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:132884"">132884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19608"">K19608</a>]
 POLR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25885"">25885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02999"">K02999</a>]",,,,,,"ICD-11: LD25.2
 ICD-10: Q75.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537680"">C537680</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538182"">C538182</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538183"">C538183</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538184"">C538184</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538185"">C538185</a>
 OMIM: <a href=""https://www.omim.org/entry/154400"">154400</a> <a href=""https://www.omim.org/entry/263750"">263750</a> <a href=""https://www.omim.org/entry/193530"">193530</a> <a href=""https://www.omim.org/entry/616462"">616462</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8266994"">8266994</a>
 著者        Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
 タイトル      Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
 雑誌        Am J Med Genet 47:660-78 (1993)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320470517"">10.1002/ajmg.1320470517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24123981"">24123981</a>
 著者        Trainor PA, Andrews BT
 タイトル      Facial dysostoses: Etiology, pathogenesis and management.
 雑誌        Am J Med Genet C Semin Med Genet 163:283-94 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31375"">10.1002/ajmg.c.31375</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17674260"">17674260</a>
 著者        Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D
 タイトル      Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
 雑誌        J Matern Fetal Neonatal Med 20:487-90 (2007)
 DOI:<a href=""https://doi.org/10.1080/14767050701398447"">10.1080/14767050701398447</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23565775"">23565775</a>
 著者        Wieczorek D
 タイトル      Human facial dysostoses.
 雑誌        Clin Genet 83:499-510 (2013)
 DOI:<a href=""https://doi.org/10.1111/cge.12123"">10.1111/cge.12123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16404586"">16404586</a>
 著者        Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z
 タイトル      A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
 雑誌        Hum Genet 119:199-205 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-0129-2"">10.1007/s00439-005-0129-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25913037"">25913037</a>
 著者        Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM
 タイトル      Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
 雑誌        Am J Hum Genet 96:765-74 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.03.011"">10.1016/j.ajhg.2015.03.011</a>"
H01377,Mitchell-Riley 症候群,,,Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.,,,RFX6 [HSA:222546] [KO:K19521],,,,,,"ICD-11: KB60.2Y
 MeSH: C567570
 OMIM: 615710","PMID:23914949
 著者        Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA
 タイトル      Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
 雑誌        Pediatr Diabetes 15:67-72 (2014)
 DOI:10.1111/pedi.12063
 PMID:21215266
 著者        Pearl EJ, Jarikji Z, Horb ME
 タイトル      Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
 雑誌        Dev Biol 351:135-45 (2011)
 DOI:10.1016/j.ydbio.2010.12.043","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01377"">H01377</a>",Mitchell-Riley 症候群,Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.,,"RFX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:222546"">222546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19521"">K19521</a>]",,,,,,"ICD-11: KB60.2Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567570"">C567570</a>
 OMIM: <a href=""https://www.omim.org/entry/615710"">615710</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23914949"">23914949</a>
 著者        Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA
 タイトル      Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
 雑誌        Pediatr Diabetes 15:67-72 (2014)
 DOI:<a href=""https://doi.org/10.1111/pedi.12063"">10.1111/pedi.12063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21215266"">21215266</a>
 著者        Pearl EJ, Jarikji Z, Horb ME
 タイトル      Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
 雑誌        Dev Biol 351:135-45 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ydbio.2010.12.043"">10.1016/j.ydbio.2010.12.043</a>"
H01378,Bosch-Boonstra 視神経萎縮症候群,,,Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated with this disease.,神経系疾患,,NR2F1 [HSA:7025] [KO:K08547],,,,,,"ICD-11: 9C40.B0
 ICD-10: H47.2
 OMIM: 615722","PMID:24462372
 著者        Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP
 タイトル      NR2F1 mutations cause optic atrophy with intellectual disability.
 雑誌        Am J Hum Genet 94:303-9 (2014)
 DOI:10.1016/j.ajhg.2014.01.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01378"">H01378</a>",Bosch-Boonstra 視神経萎縮症候群,Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated with this disease.,,"NR2F1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7025"">7025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08547"">K08547</a>]",,,,,,"ICD-11: 9C40.B0
 ICD-10: H47.2
 OMIM: <a href=""https://www.omim.org/entry/615722"">615722</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24462372"">24462372</a>
 著者        Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP
 タイトル      NR2F1 mutations cause optic atrophy with intellectual disability.
 雑誌        Am J Hum Genet 94:303-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.01.002"">10.1016/j.ajhg.2014.01.002</a>"
H01379,Arcobacter butzleri 感染,,,"Arcobacter butzleri is the best characterized of all Arcobacters and an emerging pathogen causes diarrhea, recurrent abdominal cramps and bacteremia. A. butzleri is isolated often from aqueous environments, multiple animals and food sources. In recent years, there is an increase in isolation from human diarrheal stool samples.",感染症,,,Arcobacter butzleri [GN:abu],,,,,,"PMID:18159241
 著者        Miller WG, Parker CT, Rubenfield M, Mendz GL, Wosten MM, Ussery DW, Stolz JF, Binnewies TT, Hallin PF, Wang G, Malek JA, Rogosin A, Stanker LH, Mandrell RE.
 タイトル      The complete genome sequence and analysis of the epsilonproteobacterium Arcobacter butzleri.
 雑誌        PLoS ONE 2:e1358 (2007)
 DOI:10.1371/journal.pone.0001358","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01379"">H01379</a>",Arcobacter butzleri 感染,"Arcobacter butzleri is the best characterized of all Arcobacters and an emerging pathogen causes diarrhea, recurrent abdominal cramps and bacteremia. A. butzleri is isolated often from aqueous environments, multiple animals and food sources. In recent years, there is an increase in isolation from human diarrheal stool samples.",,,"Arcobacter butzleri [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:abu"">abu</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18159241"">18159241</a>
 著者        Miller WG, Parker CT, Rubenfield M, Mendz GL, Wosten MM, Ussery DW, Stolz JF, Binnewies TT, Hallin PF, Wang G, Malek JA, Rogosin A, Stanker LH, Mandrell RE.
 タイトル      The complete genome sequence and analysis of the epsilonproteobacterium Arcobacter butzleri.
 雑誌        PLoS ONE 2:e1358 (2007)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0001358"">10.1371/journal.pone.0001358</a>"
H01380,細菌性膣炎,,,"Bacterial vaginosis (BV) flora is dominated by Gardnerella vaginalis and includes many anaerobic organisms as contrasted with normal lactobacillus-dominated vaginal flora. BV flora is thought to be related to vaginal discharge, poor pregnancy outcomes, pelvic inflammatory disease, postoperative wound infections, endometritis following elective abortions. Additionally, BV flora predisposes women to infection by HIV as well as other Sexually Transmitted Diseases (STDs).",感染症,,,Gardnerella vaginalis [GN:gvg],,,"クロラムフェニコール [DR:D00104]
 メトロニダゾール [DR:D00409]
 ミノサイクリン塩酸塩 [DR:D00850]",,"ICD-11: MF3A
 ICD-10: N76
 MeSH: D016585","PMID:20865041
 著者        Yeoman CJ, Yildirim S, Thomas SM, Durkin AS, Torralba M, Sutton G, Buhay CJ, Ding Y, Dugan-Rocha SP, Muzny DM, Qin X, Gibbs RA, Leigh SR, Stumpf R, White BA, Highlander SK, Nelson KE, Wilson BA
 タイトル      Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential.
 雑誌        PLoS One 5:e12411 (2010)
 DOI:10.1371/journal.pone.0012411
 PMID:22143133
 著者        Martin DH
 タイトル      The microbiota of the vagina and its influence on women's health and disease.
 雑誌        Am J Med Sci 343:2-9 (2012)
 DOI:10.1097/MAJ.0b013e31823ea228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01380"">H01380</a>",細菌性膣炎,"Bacterial vaginosis (BV) flora is dominated by Gardnerella vaginalis and includes many anaerobic organisms as contrasted with normal lactobacillus-dominated vaginal flora. BV flora is thought to be related to vaginal discharge, poor pregnancy outcomes, pelvic inflammatory disease, postoperative wound infections, endometritis following elective abortions. Additionally, BV flora predisposes women to infection by HIV as well as other Sexually Transmitted Diseases (STDs).",,,"Gardnerella vaginalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:gvg"">gvg</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 メトロニダゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00409"">D00409</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]",,"ICD-11: MF3A
 ICD-10: N76
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016585"">D016585</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20865041"">20865041</a>
 著者        Yeoman CJ, Yildirim S, Thomas SM, Durkin AS, Torralba M, Sutton G, Buhay CJ, Ding Y, Dugan-Rocha SP, Muzny DM, Qin X, Gibbs RA, Leigh SR, Stumpf R, White BA, Highlander SK, Nelson KE, Wilson BA
 タイトル      Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential.
 雑誌        PLoS One 5:e12411 (2010)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0012411"">10.1371/journal.pone.0012411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22143133"">22143133</a>
 著者        Martin DH
 タイトル      The microbiota of the vagina and its influence on women's health and disease.
 雑誌        Am J Med Sci 343:2-9 (2012)
 DOI:<a href=""https://doi.org/10.1097/MAJ.0b013e31823ea228"">10.1097/MAJ.0b013e31823ea228</a>"
H01381,"先天性アンチトロンビン欠損症
 上位グループ    遺伝性血栓形成傾向 [DS:H00223]",,,"Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin and factor Xa and the major inhibitor of blood coagulation. This disease is divided into type I deficiency, in which both the functional activity and antigenic levels AT are proportionately reduced, and type II deficiency, in which normal antigen levels are found in association with low AT activity due to a dysfunctional protein. Type II deficiencies can be further subclassified into three types, depending on the location of the mutations. Type IIa is caused by mutations that affect AT's reactive site. Type IIb is characterized by an abnormality of the heparin-binding domain. Type IIc variants are a pleiotropic group of mutations near the reactive loop site.",血液疾患,,SERPINC1 [HSA:462] [KO:K03911],,,,"アルガトロバン水和物 [DR:D00181]
 乾燥濃縮人アンチトロンビンIII [DR:D08795]
 アンチトロンビンガンマ [DR:D10684]",,"ICD-11: 3B61.0Y
 ICD-10: D68.5
 MeSH: D020152
 OMIM: 613118","PMID:19141163
 著者        Patnaik MM, Moll S
 タイトル      Inherited antithrombin deficiency: a review.
 雑誌        Haemophilia 14:1229-39 (2008)
 DOI:10.1111/j.1365-2516.2008.01830.x
 PMID:21401902
 著者        Cooper PC, Coath F, Daly ME, Makris M
 タイトル      The phenotypic and genetic assessment of antithrombin deficiency.
 雑誌        Int J Lab Hematol 33:227-37 (2011)
 DOI:10.1111/j.1751-553X.2011.01307.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01381"">H01381</a>","先天性アンチトロンビン欠損症
 上位グループ    遺伝性血栓形成傾向 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00223"">H00223</a>]","Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin and factor Xa and the major inhibitor of blood coagulation. This disease is divided into type I deficiency, in which both the functional activity and antigenic levels AT are proportionately reduced, and type II deficiency, in which normal antigen levels are found in association with low AT activity due to a dysfunctional protein. Type II deficiencies can be further subclassified into three types, depending on the location of the mutations. Type IIa is caused by mutations that affect AT's reactive site. Type IIb is characterized by an abnormality of the heparin-binding domain. Type IIc variants are a pleiotropic group of mutations near the reactive loop site.",,"SERPINC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:462"">462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03911"">K03911</a>]",,,,"アルガトロバン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00181"">D00181</a>]
 乾燥濃縮人アンチトロンビンIII [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08795"">D08795</a>]
 アンチトロンビンガンマ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10684"">D10684</a>]",,"ICD-11: 3B61.0Y
 ICD-10: D68.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020152"">D020152</a>
 OMIM: <a href=""https://www.omim.org/entry/613118"">613118</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19141163"">19141163</a>
 著者        Patnaik MM, Moll S
 タイトル      Inherited antithrombin deficiency: a review.
 雑誌        Haemophilia 14:1229-39 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2516.2008.01830.x"">10.1111/j.1365-2516.2008.01830.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21401902"">21401902</a>
 著者        Cooper PC, Coath F, Daly ME, Makris M
 タイトル      The phenotypic and genetic assessment of antithrombin deficiency.
 雑誌        Int J Lab Hematol 33:227-37 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1751-553X.2011.01307.x"">10.1111/j.1751-553X.2011.01307.x</a>"
H01382,結節性多発動脈炎,,,"Polyarteritis nodosa is a systemic necrotizing vasculitis that affects medium and small muscular arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. In most cases, onset of the disease occurred during childhood. Polyarteritis nodosa is most often primary. Recessive mutations in the adenosine deaminase 2 (ADA2)-encoding gene CECR1 have been found from patients of this disease.",脈管疾患,,CECR1 [HSA:51816] [KO:K19572],,Hepatitis B virus,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]",,"ICD-11: 4A44.4
 ICD-10: M30.0
 MeSH: D010488
 OMIM: 615688","PMID:24552285
 著者        Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E
 タイトル      Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
 雑誌        N Engl J Med 370:921-31 (2014)
 DOI:10.1056/NEJMoa1307362
 PMID:16148731
 著者        Guillevin L, Mahr A, Callard P, Godmer P, Pagnoux C, Leray E, Cohen P
 タイトル      Hepatitis B virus-associated polyarteritis nodosa: clinical characteristics, outcome, and impact of treatment in 115 patients.
 雑誌        Medicine (Baltimore) 84:313-22 (2005)
 DOI:10.1097/01.md.0000180792.80212.5e","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01382"">H01382</a>",結節性多発動脈炎,"Polyarteritis nodosa is a systemic necrotizing vasculitis that affects medium and small muscular arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. In most cases, onset of the disease occurred during childhood. Polyarteritis nodosa is most often primary. Recessive mutations in the adenosine deaminase 2 (ADA2)-encoding gene CECR1 have been found from patients of this disease.",,"CECR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51816"">51816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19572"">K19572</a>]",,Hepatitis B virus,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]",,"ICD-11: 4A44.4
 ICD-10: M30.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010488"">D010488</a>
 OMIM: <a href=""https://www.omim.org/entry/615688"">615688</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24552285"">24552285</a>
 著者        Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E
 タイトル      Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
 雑誌        N Engl J Med 370:921-31 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1307362"">10.1056/NEJMoa1307362</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16148731"">16148731</a>
 著者        Guillevin L, Mahr A, Callard P, Godmer P, Pagnoux C, Leray E, Cohen P
 タイトル      Hepatitis B virus-associated polyarteritis nodosa: clinical characteristics, outcome, and impact of treatment in 115 patients.
 雑誌        Medicine (Baltimore) 84:313-22 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.md.0000180792.80212.5e"">10.1097/01.md.0000180792.80212.5e</a>"
H01383,"高リポ蛋白血症 IIa 型;
 LDL レセプター欠損症
 上位グループ    脂質異常症 [DS:H01635]",,,"Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases.",先天性代謝異常症,,LDLR [HSA:3949] [KO:K12473],,,,,,"ICD-11: 5C80.00
 ICD-10: E78.0
 MeSH: D006938
 OMIM: 143890","PMID:21945105
 著者        Chan DC, Watts GF
 タイトル      Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box.
 雑誌        Metabolism 61:3-11 (2012)
 DOI:10.1016/j.metabol.2011.07.014
 PMID:24253857 (GENE)
 著者        Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I
 タイトル      Clinical utility gene card for: hyperlipoproteinemia, TYPE II.
 雑誌        Eur J Hum Genet 22:ejhg2013271 (2014)
 DOI:10.1038/ejhg.2013.271","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01383"">H01383</a>","高リポ蛋白血症 IIa 型;
 LDL レセプター欠損症
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases.",,"LDLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3949"">3949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12473"">K12473</a>]",,,,,,"ICD-11: 5C80.00
 ICD-10: E78.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006938"">D006938</a>
 OMIM: <a href=""https://www.omim.org/entry/143890"">143890</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21945105"">21945105</a>
 著者        Chan DC, Watts GF
 タイトル      Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box.
 雑誌        Metabolism 61:3-11 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.metabol.2011.07.014"">10.1016/j.metabol.2011.07.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24253857"">24253857</a> (GENE)
 著者        Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I
 タイトル      Clinical utility gene card for: hyperlipoproteinemia, TYPE II.
 雑誌        Eur J Hum Genet 22:ejhg2013271 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.271"">10.1038/ejhg.2013.271</a>"
H01384,"ミトコンドリア劣性運動失調症候群
 下位グループ    感覚性運動失調型ニューロパチー・構音障害・眼筋麻痺 (SANDO)
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) and Spinocerebellar ataxia with epilepsy (SCAE). MIRAS is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. Most cases of SANDO present with an initial stage of sensory neuropathy, a second stage of progressive external ophahlmoplegia and dysarthria, which is then followed by other symptoms, often with epilepsia or myoclonus.",先天代謝異常症; ミトコンドリア病,,POLG [HSA:5428] [KO:K02332],,,,,,"ICD-11: 5C53.21
 ICD-10: G71.3
 MeSH: C579922 C537583
 OMIM: 607459","PMID:12210792
 著者        Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M
 タイトル      Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
 雑誌        Ann Neurol 52:211-9 (2002)
 DOI:10.1002/ana.10278
 PMID:20513108
 著者        Weiss MD, Saneto RP
 タイトル      Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
 雑誌        Muscle Nerve 41:882-5 (2010)
 DOI:10.1002/mus.21636
 PMID:22616202
 著者        Gati I, Danielsson O, Jonasson J, Landtblom AM
 タイトル      Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
 雑誌        Acta Myol 30:188-90 (2011)
 PMID:16080118
 著者        Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A
 タイトル      Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
 雑誌        Am J Hum Genet 77:430-41 (2005)
 DOI:10.1086/444548","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01384"">H01384</a>","ミトコンドリア劣性運動失調症候群
 下位グループ    感覚性運動失調型ニューロパチー・構音障害・眼筋麻痺 (SANDO)
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) and Spinocerebellar ataxia with epilepsy (SCAE). MIRAS is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. Most cases of SANDO present with an initial stage of sensory neuropathy, a second stage of progressive external ophahlmoplegia and dysarthria, which is then followed by other symptoms, often with epilepsia or myoclonus.",,"POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]",,,,,,"ICD-11: 5C53.21
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579922"">C579922</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537583"">C537583</a>
 OMIM: <a href=""https://www.omim.org/entry/607459"">607459</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12210792"">12210792</a>
 著者        Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M
 タイトル      Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
 雑誌        Ann Neurol 52:211-9 (2002)
 DOI:<a href=""https://doi.org/10.1002/ana.10278"">10.1002/ana.10278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20513108"">20513108</a>
 著者        Weiss MD, Saneto RP
 タイトル      Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
 雑誌        Muscle Nerve 41:882-5 (2010)
 DOI:<a href=""https://doi.org/10.1002/mus.21636"">10.1002/mus.21636</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22616202"">22616202</a>
 著者        Gati I, Danielsson O, Jonasson J, Landtblom AM
 タイトル      Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
 雑誌        Acta Myol 30:188-90 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16080118"">16080118</a>
 著者        Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A
 タイトル      Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
 雑誌        Am J Hum Genet 77:430-41 (2005)
 DOI:<a href=""https://doi.org/10.1086/444548"">10.1086/444548</a>"
H01385,"Rienhoff 症候群
 上位グループ    Loeys-Dietz 症候群 [DS:H00800]",,,"Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.",先天奇形,,TGFB3 [HSA:7043] [KO:K13377],,,,,,"ICD-11: LD28.0Y
 ICD-10: Q87.4
 OMIM: 615582","PMID:23824657
 著者        Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M
 タイトル      A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 雑誌        Am J Med Genet A 161A:2040-6 (2013)
 DOI:10.1002/ajmg.a.36056","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01385"">H01385</a>","Rienhoff 症候群
 上位グループ    Loeys-Dietz 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00800"">H00800</a>]","Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.",,"TGFB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7043"">7043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13377"">K13377</a>]",,,,,,"ICD-11: LD28.0Y
 ICD-10: Q87.4
 OMIM: <a href=""https://www.omim.org/entry/615582"">615582</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23824657"">23824657</a>
 著者        Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M
 タイトル      A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 雑誌        Am J Med Genet A 161A:2040-6 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36056"">10.1002/ajmg.a.36056</a>"
H01386,アスパラギン合成酵素欠損症,,,"Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine and aspartate, are responsible for this syndrome.",先天性代謝異常症,,ASNS [HSA:440] [KO:K01953],,,,,,"ICD-11: 5C50.Y
 ICD-10: E72.0
 MeSH: D000592
 OMIM: 615574","PMID:24139043
 著者        Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Decarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB
 タイトル      Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
 雑誌        Neuron 80:429-41 (2013)
 DOI:10.1016/j.neuron.2013.08.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01386"">H01386</a>",アスパラギン合成酵素欠損症,"Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine and aspartate, are responsible for this syndrome.",,"ASNS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440"">440</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01953"">K01953</a>]",,,,,,"ICD-11: 5C50.Y
 ICD-10: E72.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000592"">D000592</a>
 OMIM: <a href=""https://www.omim.org/entry/615574"">615574</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24139043"">24139043</a>
 著者        Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Decarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB
 タイトル      Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
 雑誌        Neuron 80:429-41 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2013.08.013"">10.1016/j.neuron.2013.08.013</a>"
H01387,"活性化 PI3K-delta 症候群
 上位グループ    獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. A dominant gain-of-function mutation has been found in the p110-delta protein, the catalytic subunit of phosphoinositide 3-kinase delta (PI3K-delta), encoded by the PIK3CD gene.",免疫系疾患,,"(APDS/IMD14) PIK3CD [HSA:5293] [KO:K00922]
 (APDS2/IMD36) PIK3R1 [HSA:5295] [KO:K02649]",,,,,,"ICD-11: 4A01.1Y
 ICD-10: D81.8
 OMIM: 615513 616005","PMID:24136356
 著者        Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debre M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S
 タイトル      Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage.
 雑誌        Science 342:866-71 (2013)
 DOI:10.1126/science.1243292
 PMID:27221134
 著者        Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S
 タイトル      Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study.
 雑誌        J Allergy Clin Immunol 138:210-218.e9 (2016)
 DOI:10.1016/j.jaci.2016.03.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01387"">H01387</a>","活性化 PI3K-delta 症候群
 上位グループ    獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. A dominant gain-of-function mutation has been found in the p110-delta protein, the catalytic subunit of phosphoinositide 3-kinase delta (PI3K-delta), encoded by the PIK3CD gene.",,"(APDS/IMD14) PIK3CD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5293"">5293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]
 (APDS2/IMD36) PIK3R1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5295"">5295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02649"">K02649</a>]",,,,,,"ICD-11: 4A01.1Y
 ICD-10: D81.8
 OMIM: <a href=""https://www.omim.org/entry/615513"">615513</a> <a href=""https://www.omim.org/entry/616005"">616005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24136356"">24136356</a>
 著者        Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debre M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S
 タイトル      Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage.
 雑誌        Science 342:866-71 (2013)
 DOI:<a href=""https://doi.org/10.1126/science.1243292"">10.1126/science.1243292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27221134"">27221134</a>
 著者        Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S
 タイトル      Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study.
 雑誌        J Allergy Clin Immunol 138:210-218.e9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2016.03.022"">10.1016/j.jaci.2016.03.022</a>"
H01388,"高プロラクチン血症;
 下垂体性 PRL 分泌亢進症",,,"Hyperprolactinemia unrelated to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, which are usually identifiable by means of magnetic resonance imaging (MRI). Some cases are due to prolactinomas and lesions in the pituitary stalk. A human germline PRLR mutation has been found in familial isolated hyperprolactinemia.",内分泌疾患,nt06325  PRL signaling,PRLR [HSA:5618] [KO:K05081],,,,"ブロモクリプチンメシル酸塩 [DR:D00780]
 カベルゴリン [DR:D00987]",See also H01607.,"ICD-11: 5A60.1
 ICD-10: E22.1
 MeSH: D006966
 OMIM: 615555","PMID:24195502
 著者        Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV
 タイトル      Mutant prolactin receptor and familial hyperprolactinemia.
 雑誌        N Engl J Med 369:2012-20 (2013)
 DOI:10.1056/NEJMoa1307557","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01388"">H01388</a>","高プロラクチン血症;
 下垂体性 PRL 分泌亢進症","Hyperprolactinemia unrelated to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, which are usually identifiable by means of magnetic resonance imaging (MRI). Some cases are due to prolactinomas and lesions in the pituitary stalk. A human germline PRLR mutation has been found in familial isolated hyperprolactinemia.","<a href=""https://www.kegg.jp/network/nt06325"">nt06325</a>  PRL signaling","PRLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5618"">5618</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05081"">K05081</a>]",,,,"ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 カベルゴリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00987"">D00987</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01607."">H01607.</a>","ICD-11: 5A60.1
 ICD-10: E22.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006966"">D006966</a>
 OMIM: <a href=""https://www.omim.org/entry/615555"">615555</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24195502"">24195502</a>
 著者        Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV
 タイトル      Mutant prolactin receptor and familial hyperprolactinemia.
 雑誌        N Engl J Med 369:2012-20 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1307557"">10.1056/NEJMoa1307557</a>"
H01389,"アルパーズ症候群
 上位グループ    ミトコンドリア DNA 枯渇症候群 [DS:H00469]
 ミトコンドリア病 [DS:H01427]",,,"Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized by the clinical triad of refractory seizures, psychomotor regression, and characteristic liver disease. The tempo of disease progression and onset varies among patients. The majority of patients are healthy before disease onset, and seizures herald the disorder in most patients.",先天代謝異常症; ミトコンドリア病,,POLG [HSA:5428] [KO:K02332],,,,,"(The most common mutation) A467T
 (Juvenile-onset) W748S G848S E1143G E873X","ICD-11: 5C53.20
 ICD-10: G31.8
 MeSH: D002549
 OMIM: 203700","PMID:23419467
 著者        Saneto RP, Cohen BH, Copeland WC, Naviaux RK
 タイトル      Alpers-Huttenlocher syndrome.
 雑誌        Pediatr Neurol 48:167-78 (2013)
 DOI:10.1016/j.pediatrneurol.2012.09.014
 PMID:18294203
 著者        Uusimaa J, Hinttala R, Rantala H, Paivarinta M, Herva R, Roytta M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K
 タイトル      Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
 雑誌        Epilepsia 49:1038-45 (2008)
 DOI:10.1111/j.1528-1167.2008.01544.x
 PMID:16177225
 著者        Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK
 タイトル      POLG mutations in Alpers syndrome.
 雑誌        Neurology 65:1493-5 (2005)
 DOI:10.1212/01.wnl.0000182814.55361.70","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01389"">H01389</a>","アルパーズ症候群
 上位グループ    ミトコンドリア DNA 枯渇症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00469"">H00469</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized by the clinical triad of refractory seizures, psychomotor regression, and characteristic liver disease. The tempo of disease progression and onset varies among patients. The majority of patients are healthy before disease onset, and seizures herald the disorder in most patients.",,"POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]",,,,,"(The most common mutation) A467T
 (Juvenile-onset) W748S G848S E1143G E873X","ICD-11: 5C53.20
 ICD-10: G31.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002549"">D002549</a>
 OMIM: <a href=""https://www.omim.org/entry/203700"">203700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23419467"">23419467</a>
 著者        Saneto RP, Cohen BH, Copeland WC, Naviaux RK
 タイトル      Alpers-Huttenlocher syndrome.
 雑誌        Pediatr Neurol 48:167-78 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2012.09.014"">10.1016/j.pediatrneurol.2012.09.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18294203"">18294203</a>
 著者        Uusimaa J, Hinttala R, Rantala H, Paivarinta M, Herva R, Roytta M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K
 タイトル      Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
 雑誌        Epilepsia 49:1038-45 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2008.01544.x"">10.1111/j.1528-1167.2008.01544.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16177225"">16177225</a>
 著者        Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK
 タイトル      POLG mutations in Alpers syndrome.
 雑誌        Neurology 65:1493-5 (2005)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000182814.55361.70"">10.1212/01.wnl.0000182814.55361.70</a>"
H01390,"ミトコンドリア神経性胃腸管系脳筋症;
 MNGIE 症候群
 上位グループ    ミトコンドリア DNA 枯渇症候群 [DS:H00469]
 ミトコンドリア病 [DS:H01427]",,,"Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations. Rare cases of MNGIE-like phenotype have been linked to RRM2B and POLG mutations.",先天性代謝異常症; ミトコンドリア病,,"TYMP [HSA:1890] [KO:K00758]
 RRM2B [HSA:50484] [KO:K10808]
 POLG [HSA:5428] [KO:K02332]
 LIG3 [HSA:3980] [KO:K10776]",,,,,"(TYMP mutation)
 G1419A, G1443A, A3371C
 (RRM2B mutation)
 G329A, G362A
 (POLG mutation)
 C752T, C1760T, A2591T","ICD-11: 5C53.20
 ICD-10: G71.3
 MeSH: C537477
 OMIM: 613662 603041 612075 619780","PMID:11166160
 著者        Nishino I, Spinazzola A, Hirano M
 タイトル      MNGIE: from nuclear DNA to mitochondrial DNA.
 雑誌        Neuromuscul Disord 11:7-10 (2001)
 DOI:10.1016/S0960-8966(00)00159-0
 PMID:21993618
 著者        Tang S, Dimberg EL, Milone M, Wong LJ
 タイトル      Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
 雑誌        J Neurol 259:862-8 (2012)
 DOI:10.1007/s00415-011-6268-6
 PMID:19667227
 著者        Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M
 タイトル      Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
 雑誌        Arch Neurol 66:1028-32 (2009)
 DOI:10.1001/archneurol.2009.139
 PMID:9924029
 著者        Nishino I, Spinazzola A, Hirano M
 タイトル      Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
 雑誌        Science 283:689-92 (1999)
 DOI:10.1126/science.283.5402.689
 PMID:12825077 (POLG)
 著者        Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J
 タイトル      Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
 雑誌        Eur J Hum Genet 11:547-9 (2003)
 DOI:10.1038/sj.ejhg.5201002
 PMID:33855352 (LIG3)
 著者        Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
 タイトル      Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
 雑誌        Brain 144:1451-1466 (2021)
 DOI:10.1093/brain/awab056","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01390"">H01390</a>","ミトコンドリア神経性胃腸管系脳筋症;
 MNGIE 症候群
 上位グループ    ミトコンドリア DNA 枯渇症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00469"">H00469</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations. Rare cases of MNGIE-like phenotype have been linked to RRM2B and POLG mutations.",,"TYMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1890"">1890</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00758"">K00758</a>]
 RRM2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50484"">50484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10808"">K10808</a>]
 POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]
 LIG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3980"">3980</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10776"">K10776</a>]",,,,,"(TYMP mutation)
 G1419A, G1443A, A3371C
 (RRM2B mutation)
 G329A, G362A
 (POLG mutation)
 C752T, C1760T, A2591T","ICD-11: 5C53.20
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537477"">C537477</a>
 OMIM: <a href=""https://www.omim.org/entry/613662"">613662</a> <a href=""https://www.omim.org/entry/603041"">603041</a> <a href=""https://www.omim.org/entry/612075"">612075</a> <a href=""https://www.omim.org/entry/619780"">619780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11166160"">11166160</a>
 著者        Nishino I, Spinazzola A, Hirano M
 タイトル      MNGIE: from nuclear DNA to mitochondrial DNA.
 雑誌        Neuromuscul Disord 11:7-10 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(00)00159-0"">10.1016/S0960-8966(00)00159-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21993618"">21993618</a>
 著者        Tang S, Dimberg EL, Milone M, Wong LJ
 タイトル      Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
 雑誌        J Neurol 259:862-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00415-011-6268-6"">10.1007/s00415-011-6268-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19667227"">19667227</a>
 著者        Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M
 タイトル      Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
 雑誌        Arch Neurol 66:1028-32 (2009)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2009.139"">10.1001/archneurol.2009.139</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9924029"">9924029</a>
 著者        Nishino I, Spinazzola A, Hirano M
 タイトル      Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
 雑誌        Science 283:689-92 (1999)
 DOI:<a href=""https://doi.org/10.1126/science.283.5402.689"">10.1126/science.283.5402.689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12825077"">12825077</a> (POLG)
 著者        Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J
 タイトル      Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
 雑誌        Eur J Hum Genet 11:547-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201002"">10.1038/sj.ejhg.5201002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33855352"">33855352</a> (LIG3)
 著者        Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
 タイトル      Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
 雑誌        Brain 144:1451-1466 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awab056"">10.1093/brain/awab056</a>"
H01391,家族性エピソード性疼痛症候群,,,"Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1, SCN10A, and SCN11A can be causative of FEPS.",筋骨格疾患,,"(FEPS1) TRPA1 [HSA:8989] [KO:K04984]
 (FEPS2) SCN10A [HSA:6336] [KO:K04842]
 (FEPS3) SCN11A [HSA:11280] [KO:K04843]",,,,,,"ICD-11: 8E43.Y
 ICD-10: M79.6
 MeSH: C538101
 OMIM: 615040 615551 615552","PMID:20547126
 著者        Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramirez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A
 タイトル      A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
 雑誌        Neuron 66:671-80 (2010)
 DOI:10.1016/j.neuron.2010.04.030
 PMID:23115331
 著者        Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG
 タイトル      Gain-of-function Nav1.8 mutations in painful neuropathy.
 雑誌        Proc Natl Acad Sci U S A 109:19444-9 (2012)
 DOI:10.1073/pnas.1216080109
 PMID:24207120
 著者        Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY
 タイトル      Gain-of-function mutations in SCN11A cause familial episodic pain.
 雑誌        Am J Hum Genet 93:957-66 (2013)
 DOI:10.1016/j.ajhg.2013.09.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01391"">H01391</a>",家族性エピソード性疼痛症候群,"Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1, SCN10A, and SCN11A can be causative of FEPS.",,"(FEPS1) TRPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8989"">8989</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04984"">K04984</a>]
 (FEPS2) SCN10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6336"">6336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04842"">K04842</a>]
 (FEPS3) SCN11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11280"">11280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04843"">K04843</a>]",,,,,,"ICD-11: 8E43.Y
 ICD-10: M79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538101"">C538101</a>
 OMIM: <a href=""https://www.omim.org/entry/615040"">615040</a> <a href=""https://www.omim.org/entry/615551"">615551</a> <a href=""https://www.omim.org/entry/615552"">615552</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20547126"">20547126</a>
 著者        Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramirez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A
 タイトル      A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
 雑誌        Neuron 66:671-80 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2010.04.030"">10.1016/j.neuron.2010.04.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23115331"">23115331</a>
 著者        Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG
 タイトル      Gain-of-function Nav1.8 mutations in painful neuropathy.
 雑誌        Proc Natl Acad Sci U S A 109:19444-9 (2012)
 DOI:<a href=""https://doi.org/10.1073/pnas.1216080109"">10.1073/pnas.1216080109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24207120"">24207120</a>
 著者        Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY
 タイトル      Gain-of-function mutations in SCN11A cause familial episodic pain.
 雑誌        Am J Hum Genet 93:957-66 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.016"">10.1016/j.ajhg.2013.09.016</a>"
H01392,関節拘縮・精神遅滞・てんかん,,,"Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated with AMRS. The gene encodes a UDP-GlcNAc transporter, and the mutations abolish its activity.",先天奇形,,SLC35A3 [HSA:23443] [KO:K15272],,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 OMIM: 615553","PMID:24031089
 著者        Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O
 タイトル      Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
 雑誌        J Med Genet 50:733-9 (2013)
 DOI:10.1136/jmedgenet-2013-101753","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01392"">H01392</a>",関節拘縮・精神遅滞・てんかん,"Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated with AMRS. The gene encodes a UDP-GlcNAc transporter, and the mutations abolish its activity.",,"SLC35A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23443"">23443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15272"">K15272</a>]",,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 OMIM: <a href=""https://www.omim.org/entry/615553"">615553</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24031089"">24031089</a>
 著者        Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O
 タイトル      Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
 雑誌        J Med Genet 50:733-9 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101753"">10.1136/jmedgenet-2013-101753</a>"
H01393,Van Maldergem 症候群,,,"Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.",先天奇形,,"(VMLDS1) DCHS1 [HSA:8642] [KO:K16507]
 (VMLDS2) FAT4 [HSA:79633] [KO:K16669]",,,,,,"MeSH: C536530
 OMIM: 601390 615546","PMID:24056717
 著者        Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Gotz M, Robertson SP
 タイトル      Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
 雑誌        Nat Genet 45:1300-8 (2013)
 DOI:10.1038/ng.2765
 PMID:22469822
 著者        Neuhann TM, Muller D, Hackmann K, Holzinger S, Schrock E, Di Donato N
 タイトル      A further patient with van Maldergem syndrome.
 雑誌        Eur J Med Genet 55:423-8 (2012)
 DOI:10.1016/j.ejmg.2012.02.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01393"">H01393</a>",Van Maldergem 症候群,"Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.",,"(VMLDS1) DCHS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8642"">8642</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16507"">K16507</a>]
 (VMLDS2) FAT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79633"">79633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16669"">K16669</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536530"">C536530</a>
 OMIM: <a href=""https://www.omim.org/entry/601390"">601390</a> <a href=""https://www.omim.org/entry/615546"">615546</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24056717"">24056717</a>
 著者        Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Gotz M, Robertson SP
 タイトル      Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
 雑誌        Nat Genet 45:1300-8 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2765"">10.1038/ng.2765</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22469822"">22469822</a>
 著者        Neuhann TM, Muller D, Hackmann K, Holzinger S, Schrock E, Di Donato N
 タイトル      A further patient with van Maldergem syndrome.
 雑誌        Eur J Med Genet 55:423-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2012.02.012"">10.1016/j.ejmg.2012.02.012</a>"
H01394,Cole disease,,,"Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), are associated with Cole disease. ENPP1 catalyzes the hydrolysis of ATP to AMP and generates extracellular inorganic pyrophosphate.",,,ENPP1 [HSA:5167] [KO:K01513],,,,,,OMIM: 615522,"PMID:24075184
 著者        Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E
 タイトル      Cole Disease Results from Mutations in ENPP1.
 雑誌        Am J Hum Genet 93:752-7 (2013)
 DOI:10.1016/j.ajhg.2013.08.007
 PMID:19380683
 著者        Moore MM, Orlow SJ, Kamino H, Wang N, Schaffer JV
 タイトル      Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma.
 雑誌        Arch Dermatol 145:495-7 (2009)
 DOI:10.1001/archdermatol.2009.54","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01394"">H01394</a>",Cole disease,"Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), are associated with Cole disease. ENPP1 catalyzes the hydrolysis of ATP to AMP and generates extracellular inorganic pyrophosphate.",,"ENPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/615522"">615522</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24075184"">24075184</a>
 著者        Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E
 タイトル      Cole Disease Results from Mutations in ENPP1.
 雑誌        Am J Hum Genet 93:752-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.007"">10.1016/j.ajhg.2013.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19380683"">19380683</a>
 著者        Moore MM, Orlow SJ, Kamino H, Wang N, Schaffer JV
 タイトル      Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma.
 雑誌        Arch Dermatol 145:495-7 (2009)
 DOI:<a href=""https://doi.org/10.1001/archdermatol.2009.54"">10.1001/archdermatol.2009.54</a>"
H01395,"常染色体劣性遺伝性進行性外眼筋麻痺
 上位グループ    進行性外眼筋麻痺 [DS:H01118]
 ミトコンドリア病 [DS:H01427]",,,"Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified.",神経系疾患; 先天性代謝異常症,,"(PEOB1) POLG [HSA:5428] [KO:K02332]
 (PEOB2) RNASEH1 [HSA:246243] [KO:K03469]
 (PEOB3) TK2 [HSA:7084] [KO:K00857]
 (PEOB4) DGUOK [HSA:1716] [KO:K00904]
 (PEOB5) TOP3A [HSA:7156] [KO:K03165]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.4
 MeSH: C564926
 OMIM: 258450 616479 617069 617070 618098","PMID:20558295
 著者        Cohen BH, Naviaux RK
 タイトル      The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
 雑誌        Methods 51:364-73 (2010)
 DOI:10.1016/j.ymeth.2010.05.008
 PMID:11431686 (POLG)
 著者        Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C
 タイトル      Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
 雑誌        Nat Genet 28:211-2 (2001)
 DOI:10.1038/90034
 PMID:26094573 (RNASEH1)
 著者        Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M
 タイトル      RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
 雑誌        Am J Hum Genet 97:186-93 (2015)
 DOI:10.1016/j.ajhg.2015.05.013
 PMID:21937588 (TK2)
 著者        Tyynismaa H, Sun R, Ahola-Erkkila S, Almusa H, Poyhonen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A
 タイトル      Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
 雑誌        Hum Mol Genet 21:66-75 (2012)
 DOI:10.1093/hmg/ddr438
 PMID:23043144 (DGUOK)
 著者        Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M
 タイトル      Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
 雑誌        Brain 135:3404-15 (2012)
 DOI:10.1093/brain/aws258
 PMID:29290614 (TOP3A)
 著者        Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM
 タイトル      Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA.
 雑誌        Mol Cell 69:9-23.e6 (2018)
 DOI:10.1016/j.molcel.2017.11.033","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01395"">H01395</a>","常染色体劣性遺伝性進行性外眼筋麻痺
 上位グループ    進行性外眼筋麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01118"">H01118</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified.",,"(PEOB1) POLG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5428"">5428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02332"">K02332</a>]
 (PEOB2) RNASEH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:246243"">246243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03469"">K03469</a>]
 (PEOB3) TK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7084"">7084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00857"">K00857</a>]
 (PEOB4) DGUOK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1716"">1716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00904"">K00904</a>]
 (PEOB5) TOP3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7156"">7156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03165"">K03165</a>]",,,,,,"ICD-11: 9C82.0
 ICD-10: H49.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564926"">C564926</a>
 OMIM: <a href=""https://www.omim.org/entry/258450"">258450</a> <a href=""https://www.omim.org/entry/616479"">616479</a> <a href=""https://www.omim.org/entry/617069"">617069</a> <a href=""https://www.omim.org/entry/617070"">617070</a> <a href=""https://www.omim.org/entry/618098"">618098</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20558295"">20558295</a>
 著者        Cohen BH, Naviaux RK
 タイトル      The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
 雑誌        Methods 51:364-73 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ymeth.2010.05.008"">10.1016/j.ymeth.2010.05.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11431686"">11431686</a> (POLG)
 著者        Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C
 タイトル      Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
 雑誌        Nat Genet 28:211-2 (2001)
 DOI:<a href=""https://doi.org/10.1038/90034"">10.1038/90034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26094573"">26094573</a> (RNASEH1)
 著者        Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M
 タイトル      RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
 雑誌        Am J Hum Genet 97:186-93 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.013"">10.1016/j.ajhg.2015.05.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21937588"">21937588</a> (TK2)
 著者        Tyynismaa H, Sun R, Ahola-Erkkila S, Almusa H, Poyhonen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A
 タイトル      Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
 雑誌        Hum Mol Genet 21:66-75 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr438"">10.1093/hmg/ddr438</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23043144"">23043144</a> (DGUOK)
 著者        Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M
 タイトル      Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
 雑誌        Brain 135:3404-15 (2012)
 DOI:<a href=""https://doi.org/10.1093/brain/aws258"">10.1093/brain/aws258</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29290614"">29290614</a> (TOP3A)
 著者        Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM
 タイトル      Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA.
 雑誌        Mol Cell 69:9-23.e6 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.molcel.2017.11.033"">10.1016/j.molcel.2017.11.033</a>"
H01396,もやもや病,,,Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.,循環器疾患,,"RNF213 [HSA:57674] [KO:K22754]
 ACTA2 [HSA:59] [KO:K12313]
 GUCY1A3 [HSA:2982] [KO:K12318]",,,,,The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of Moyamoya Disease.,"ICD-11: 8B22.B
 ICD-10: I67.5
 MeSH: D009072
 OMIM: 252350 607151 614042 615750","PMID:20591301
 著者        Komiyama M
 タイトル      Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery.
 雑誌        Interv Neuroradiol 9:39-45 (2003)
 DOI:10.1177/159101990300900105
 PMID:21048783
 著者        Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
 タイトル      A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
 雑誌        J Hum Genet 56:34-40 (2011)
 DOI:10.1038/jhg.2010.132
 PMID:22377813
 著者        Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N
 タイトル      Homozygous c.14576G&gt;A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
 雑誌        Neurology 78:803-10 (2012)
 DOI:10.1212/WNL.0b013e318249f71f
 PMID:19409525
 著者        Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
 タイトル      Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
 雑誌        Am J Hum Genet 84:617-27 (2009)
 DOI:10.1016/j.ajhg.2009.04.007
 PMID:24581742
 著者        Herve D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E
 タイトル      Loss of alpha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
 雑誌        Am J Hum Genet 94:385-94 (2014)
 DOI:10.1016/j.ajhg.2014.01.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01396"">H01396</a>",もやもや病,Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.,,"RNF213 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57674"">57674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22754"">K22754</a>]
 ACTA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59"">59</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12313"">K12313</a>]
 GUCY1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2982"">2982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12318"">K12318</a>]",,,,,The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of Moyamoya Disease.,"ICD-11: 8B22.B
 ICD-10: I67.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009072"">D009072</a>
 OMIM: <a href=""https://www.omim.org/entry/252350"">252350</a> <a href=""https://www.omim.org/entry/607151"">607151</a> <a href=""https://www.omim.org/entry/614042"">614042</a> <a href=""https://www.omim.org/entry/615750"">615750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20591301"">20591301</a>
 著者        Komiyama M
 タイトル      Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery.
 雑誌        Interv Neuroradiol 9:39-45 (2003)
 DOI:<a href=""https://doi.org/10.1177/159101990300900105"">10.1177/159101990300900105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21048783"">21048783</a>
 著者        Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
 タイトル      A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
 雑誌        J Hum Genet 56:34-40 (2011)
 DOI:<a href=""https://doi.org/10.1038/jhg.2010.132"">10.1038/jhg.2010.132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22377813"">22377813</a>
 著者        Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N
 タイトル      Homozygous c.14576G&gt;A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
 雑誌        Neurology 78:803-10 (2012)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e318249f71f"">10.1212/WNL.0b013e318249f71f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19409525"">19409525</a>
 著者        Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
 タイトル      Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
 雑誌        Am J Hum Genet 84:617-27 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.007"">10.1016/j.ajhg.2009.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24581742"">24581742</a>
 著者        Herve D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E
 タイトル      Loss of alpha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
 雑誌        Am J Hum Genet 94:385-94 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.01.018"">10.1016/j.ajhg.2014.01.018</a>"
H01397,マダニ媒介性リンパ節炎,,,"Rickettsia species are arthropod-associated intracellular bacteria and cause diseases in human such as Tick-borne lymphadenopathy, Typhus fever and Spotted fever. Rickettsia slovaca has been isolated from Dermacentor ticks and is the main agent of tick-borne lymphadenopathy (TIBOLA), which is found only in Europe. Its symptoms are generally mild and can be characterized by inoculation eschar on the scalp and cervical lymphadenopathies after a tick bite. Moreover, most of the cases occur during European cool months related to the activity of Dermacentor ticks.",感染症,,,Rickettsia slovaca [GN:rsv],,,,Intermediate host: Dermacentor marginatus and Dermacentor reticulatus,"ICD-10: R59 L04 I88
 MeSH: D008199 D008206","PMID:22374949
 著者        Fournier PE, El Karkouri K, Robert C, Medigue C, Raoult D
 タイトル      Complete genome sequence of Rickettsia slovaca, the agent of tick-borne lymphadenitis.
 雑誌        J Bacteriol 194:1612 (2012)
 DOI:10.1128/JB.06625-11
 PMID:19547738
 著者        Dobler G, Wolfel R
 タイトル      Typhus and other rickettsioses: emerging infections in Germany.
 雑誌        Dtsch Arztebl Int 106:348-54 (2009)
 DOI:10.3238/arztebl.2009.0348","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01397"">H01397</a>",マダニ媒介性リンパ節炎,"Rickettsia species are arthropod-associated intracellular bacteria and cause diseases in human such as Tick-borne lymphadenopathy, Typhus fever and Spotted fever. Rickettsia slovaca has been isolated from Dermacentor ticks and is the main agent of tick-borne lymphadenopathy (TIBOLA), which is found only in Europe. Its symptoms are generally mild and can be characterized by inoculation eschar on the scalp and cervical lymphadenopathies after a tick bite. Moreover, most of the cases occur during European cool months related to the activity of Dermacentor ticks.",,,"Rickettsia slovaca [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rsv"">rsv</a>]",,,,Intermediate host: Dermacentor marginatus and Dermacentor reticulatus,"ICD-10: R59 L04 I88
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008199"">D008199</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008206"">D008206</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22374949"">22374949</a>
 著者        Fournier PE, El Karkouri K, Robert C, Medigue C, Raoult D
 タイトル      Complete genome sequence of Rickettsia slovaca, the agent of tick-borne lymphadenitis.
 雑誌        J Bacteriol 194:1612 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.06625-11"">10.1128/JB.06625-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19547738"">19547738</a>
 著者        Dobler G, Wolfel R
 タイトル      Typhus and other rickettsioses: emerging infections in Germany.
 雑誌        Dtsch Arztebl Int 106:348-54 (2009)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2009.0348"">10.3238/arztebl.2009.0348</a>"
H01398,"尿素サイクル異常症;
 原発性高アンモニア血症
 下位グループ    NAGS欠損症 [DS:H01032]
 カルバモイルリン酸合成酵素I欠損症 [DS:H00164]
 オルニチントランスカルバミラーゼ欠損症 [DS:H00187]
 シトルリン血症 [DS:H00185]
 アルギニノコハク酸尿症 [DS:H01028]
 高アルギニン血症 [DS:H00186]
 HHH症候群 [DS:H01268]",,,"Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. If the urea cycle is directly affected by a defect of any of the involved enzymes or transporters, this results in primary hyperammonemia.",先天性代謝異常症,nt06010  Urea cycle,"NAGS [HSA:162417] [KO:K11067]
 CPS1 [HSA:1373] [KO:K01948]
 OTC [HSA:5009] [KO:K00611]
 ASS1 [HSA:445] [KO:K01940]
 ASL [HSA:435] [KO:K01755]
 ARG1 [HSA:383] [KO:K01476]
 SLC25A15 [HSA:10166] [KO:K15101]
 SLC25A13 [HSA:10165] [KO:K15105]",,,,"フェニル酪酸ナトリウム [DR:D05868]
 L-アルギニン塩酸塩 [DR:D01126]
 L-アルギニン・L-アルギニン塩酸塩 [DR:D08754]",,"ICD-11: 5C50.A
 ICD-10: E72.2
 MeSH: D022124 D056806
 OMIM: 237310 237300 311250 215700 207900 207800 238970 603471 605814","PMID:23628343
 著者        Haberle J
 タイトル      Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.
 雑誌        Arch Biochem Biophys 536:101-8 (2013)
 DOI:10.1016/j.abb.2013.04.009
 PMID:20138956
 著者        Wilkinson DJ, Smeeton NJ, Watt PW
 タイトル      Ammonia metabolism, the brain and fatigue; revisiting the link.
 雑誌        Prog Neurobiol 91:200-19 (2010)
 DOI:10.1016/j.pneurobio.2010.01.012
 PMID:25042691 (drug)
 著者        Burrage LC, Jain M, Gandolfo L, Lee BH, Nagamani SC
 タイトル      Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
 雑誌        Mol Genet Metab 113:131-5 (2014)
 DOI:10.1016/j.ymgme.2014.06.005
 PMID:25908985 (drug)
 著者        Machado MC, Pinheiro da Silva F
 タイトル      Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting.
 雑誌        J Intensive Care 2:22 (2014)
 DOI:10.1186/2052-0492-2-22
 PMID:25895618 (drug)
 著者        Matoori S, Leroux JC
 タイトル      Recent advances in the treatment of hyperammonemia.
 雑誌        Adv Drug Deliv Rev 90:55-68 (2015)
 DOI:10.1016/j.addr.2015.04.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01398"">H01398</a>","尿素サイクル異常症;
 原発性高アンモニア血症
 下位グループ    NAGS欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01032"">H01032</a>]
 カルバモイルリン酸合成酵素I欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00164"">H00164</a>]
 オルニチントランスカルバミラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00187"">H00187</a>]
 シトルリン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00185"">H00185</a>]
 アルギニノコハク酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01028"">H01028</a>]
 高アルギニン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00186"">H00186</a>]
 HHH症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01268"">H01268</a>]","Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. If the urea cycle is directly affected by a defect of any of the involved enzymes or transporters, this results in primary hyperammonemia.","<a href=""https://www.kegg.jp/network/nt06010"">nt06010</a>  Urea cycle","NAGS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:162417"">162417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11067"">K11067</a>]
 CPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1373"">1373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01948"">K01948</a>]
 OTC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5009"">5009</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00611"">K00611</a>]
 ASS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:445"">445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01940"">K01940</a>]
 ASL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:435"">435</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01755"">K01755</a>]
 ARG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:383"">383</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01476"">K01476</a>]
 SLC25A15 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10166"">10166</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15101"">K15101</a>]
 SLC25A13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10165"">10165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15105"">K15105</a>]",,,,"フェニル酪酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05868"">D05868</a>]
 L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01126"">D01126</a>]
 L-アルギニン・L-アルギニン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08754"">D08754</a>]",,"ICD-11: 5C50.A
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D022124"">D022124</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056806"">D056806</a>
 OMIM: <a href=""https://www.omim.org/entry/237310"">237310</a> <a href=""https://www.omim.org/entry/237300"">237300</a> <a href=""https://www.omim.org/entry/311250"">311250</a> <a href=""https://www.omim.org/entry/215700"">215700</a> <a href=""https://www.omim.org/entry/207900"">207900</a> <a href=""https://www.omim.org/entry/207800"">207800</a> <a href=""https://www.omim.org/entry/238970"">238970</a> <a href=""https://www.omim.org/entry/603471"">603471</a> <a href=""https://www.omim.org/entry/605814"">605814</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23628343"">23628343</a>
 著者        Haberle J
 タイトル      Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.
 雑誌        Arch Biochem Biophys 536:101-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.abb.2013.04.009"">10.1016/j.abb.2013.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20138956"">20138956</a>
 著者        Wilkinson DJ, Smeeton NJ, Watt PW
 タイトル      Ammonia metabolism, the brain and fatigue; revisiting the link.
 雑誌        Prog Neurobiol 91:200-19 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.pneurobio.2010.01.012"">10.1016/j.pneurobio.2010.01.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25042691"">25042691</a> (drug)
 著者        Burrage LC, Jain M, Gandolfo L, Lee BH, Nagamani SC
 タイトル      Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
 雑誌        Mol Genet Metab 113:131-5 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2014.06.005"">10.1016/j.ymgme.2014.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25908985"">25908985</a> (drug)
 著者        Machado MC, Pinheiro da Silva F
 タイトル      Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting.
 雑誌        J Intensive Care 2:22 (2014)
 DOI:<a href=""https://doi.org/10.1186/2052-0492-2-22"">10.1186/2052-0492-2-22</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25895618"">25895618</a> (drug)
 著者        Matoori S, Leroux JC
 タイトル      Recent advances in the treatment of hyperammonemia.
 雑誌        Adv Drug Deliv Rev 90:55-68 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.addr.2015.04.009"">10.1016/j.addr.2015.04.009</a>"
H01399,Bacillus thuringiensis 感染,,,"Bacillus thuringiensis is a close taxonomic relative of Bacillus cereus and an insect pathogen that is widely used as a biopesticide. Additionally, this bacterium is known to induce myonecrosis in immunosuppressed mice after cutaneous infection. Human infection is unusual, and apart from gastrointestinal tract infections or those following laboratory contamination, there are only two clinical reports of B. thuringiensis infection. Both the cases were isolated from severe human tissue necrosis by burn wounds or severe war wounds.",感染症,,,Bacillus thuringiensis [GN:btk],,,,,,"PMID:9215586
 著者        Damgaard PH, Granum PE, Bresciani J, Torregrossa MV, Eilenberg J, Valentino L
 タイトル      Characterization of Bacillus thuringiensis isolated from infections in burn wounds.
 雑誌        FEMS Immunol Med Microbiol 18:47-53 (1997)
 DOI:10.1111/j.1574-695X.1997.tb01026.x
 PMID:10340711
 著者        Hernandez E, Ramisse F, Cruel T, le Vagueresse R, Cavallo JD
 タイトル      Bacillus thuringiensis serotype H34 isolated from human and insecticidal strains serotypes 3a3b and H14 can lead to death of immunocompetent mice after pulmonary infection.
 雑誌        FEMS Immunol Med Microbiol 24:43-7 (1999)
 DOI:10.1111/j.1574-695X.1999.tb01263.x
 PMID:9650985
 著者        Hernandez E, Ramisse F, Ducoureau JP, Cruel T, Cavallo JD
 タイトル      Bacillus thuringiensis subsp. konkukian (serotype H34) superinfection: case report and experimental evidence of pathogenicity in immunosuppressed mice.
 雑誌        J Clin Microbiol 36:2138-9 (1998)
 DOI:10.1128/JCM.36.7.2138-2139.1998","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01399"">H01399</a>",Bacillus thuringiensis 感染,"Bacillus thuringiensis is a close taxonomic relative of Bacillus cereus and an insect pathogen that is widely used as a biopesticide. Additionally, this bacterium is known to induce myonecrosis in immunosuppressed mice after cutaneous infection. Human infection is unusual, and apart from gastrointestinal tract infections or those following laboratory contamination, there are only two clinical reports of B. thuringiensis infection. Both the cases were isolated from severe human tissue necrosis by burn wounds or severe war wounds.",,,"Bacillus thuringiensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:btk"">btk</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9215586"">9215586</a>
 著者        Damgaard PH, Granum PE, Bresciani J, Torregrossa MV, Eilenberg J, Valentino L
 タイトル      Characterization of Bacillus thuringiensis isolated from infections in burn wounds.
 雑誌        FEMS Immunol Med Microbiol 18:47-53 (1997)
 DOI:<a href=""https://doi.org/10.1111/j.1574-695X.1997.tb01026.x"">10.1111/j.1574-695X.1997.tb01026.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10340711"">10340711</a>
 著者        Hernandez E, Ramisse F, Cruel T, le Vagueresse R, Cavallo JD
 タイトル      Bacillus thuringiensis serotype H34 isolated from human and insecticidal strains serotypes 3a3b and H14 can lead to death of immunocompetent mice after pulmonary infection.
 雑誌        FEMS Immunol Med Microbiol 24:43-7 (1999)
 DOI:<a href=""https://doi.org/10.1111/j.1574-695X.1999.tb01263.x"">10.1111/j.1574-695X.1999.tb01263.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9650985"">9650985</a>
 著者        Hernandez E, Ramisse F, Ducoureau JP, Cruel T, Cavallo JD
 タイトル      Bacillus thuringiensis subsp. konkukian (serotype H34) superinfection: case report and experimental evidence of pathogenicity in immunosuppressed mice.
 雑誌        J Clin Microbiol 36:2138-9 (1998)
 DOI:<a href=""https://doi.org/10.1128/JCM.36.7.2138-2139.1998"">10.1128/JCM.36.7.2138-2139.1998</a>"
H01400,"二次性高アンモニア血症
 下位グループ    メチルマロン酸尿症 [DS:H00174]
 プロピオン酸血症 [DS:H00175]
 イソ吉草酸血症 [DS:H00173]
 脂肪酸酸化障害 [DS:H00525]
 グルタル酸血症 [DS:H00178]
 リジン尿性蛋白不耐症 [DS:H00899]
 ピルビン酸カルボキシラーゼ欠損症 [DS:H00073]
 高オルニチン血症 [DS:H00189]
 高インスリン性低血糖症 [DS:H01267]
 グルタミン合成酵素欠損症 [DS:H00923]",,,"Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. The function of the urea cycle may be affected in a secondary way in a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this respect is that of organic acidemias. The urea cycle function may be impaired by substrate deficiencies assumed cause in various disorders including lysinuric protein intolerance, pyrroline-5-carboxylate synthetase deficiency, and fatty acid oxidation defects. In addition to the urea cycle, mammals require the function of glutamine synthetase to completely detoxify ammonia.",先天性代謝異常症,,"MUT [HSA:4594] [KO:K01847]
 PCCA [HSA:5095] [KO:K01965]
 PCCB [HSA:5096] [KO:K01966]
 IVD [HSA:3712] [KO:K00253]
 ACADM [HSA:34] [KO:K00249]
 ETFDH [HSA:2110] [KO:K00311]
 ETFA [HSA:2108] [KO:K03522]
 ETFB [HSA:2109] [KO:K03521]
 CPT2 [HSA:1376] [KO:K08766]
 SLC25A20 [HSA:788] [KO:K15109]
 SLC7A7 [HSA:9056] [KO:K13867]
 ALDH18A1 [HSA:5832] [KO:K12657]
 PC [HSA:5091] [KO:K01958]
 OAT [HSA:4942] [KO:K00819]
 CA5A [HSA:763] [KO:K01672]
 GLUD1 [HSA:2746] [KO:K00261]
 TMEM70 [HSA:54968] [KO:K17966]
 GLUL [HSA:2752] [KO:K01915]",,,,"アルギニングルタメート [DR:D02397]
 カルグルミン酸 [DR:D07130]",,"ICD-11: 5C50.A
 ICD-10: E72.2
 MeSH: D022124
 OMIM: 251000 606054 243500 201450 231680 608836 212138 222700 219150 266150 258870 615751 606762 614052 610015","PMID:23628343
 著者        Haberle J
 タイトル      Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.
 雑誌        Arch Biochem Biophys 536:101-8 (2013)
 DOI:10.1016/j.abb.2013.04.009
 PMID:19707277 (drug)
 著者        Al Sibae MR, McGuire BM
 タイトル      Current trends in the treatment of hepatic encephalopathy.
 雑誌        Ther Clin Risk Manag 5:617-26 (2009)
 DOI:10.2147/TCRM.S4443
 PMID:25895618 (drug)
 著者        Matoori S, Leroux JC
 タイトル      Recent advances in the treatment of hyperammonemia.
 雑誌        Adv Drug Deliv Rev 90:55-68 (2015)
 DOI:10.1016/j.addr.2015.04.009
 PMID:14085036 (drug)
 著者        SCHROEDER HA
 タイトル      AN AMMONIA DETOXICANT, ARGININE GLUTAMATE.
 雑誌        JAMA 187:359-60 (1964)
 DOI:10.1001/jama.1964.03060180045014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>","二次性高アンモニア血症
 下位グループ    メチルマロン酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00174"">H00174</a>]
 プロピオン酸血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00175"">H00175</a>]
 イソ吉草酸血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00173"">H00173</a>]
 脂肪酸酸化障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 グルタル酸血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00178"">H00178</a>]
 リジン尿性蛋白不耐症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00899"">H00899</a>]
 ピルビン酸カルボキシラーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00073"">H00073</a>]
 高オルニチン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00189"">H00189</a>]
 高インスリン性低血糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01267"">H01267</a>]
 グルタミン合成酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00923"">H00923</a>]","Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. The function of the urea cycle may be affected in a secondary way in a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this respect is that of organic acidemias. The urea cycle function may be impaired by substrate deficiencies assumed cause in various disorders including lysinuric protein intolerance, pyrroline-5-carboxylate synthetase deficiency, and fatty acid oxidation defects. In addition to the urea cycle, mammals require the function of glutamine synthetase to completely detoxify ammonia.",,"MUT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4594"">4594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01847"">K01847</a>]
 PCCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5095"">5095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01965"">K01965</a>]
 PCCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5096"">5096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01966"">K01966</a>]
 IVD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3712"">3712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00253"">K00253</a>]
 ACADM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:34"">34</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00249"">K00249</a>]
 ETFDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2110"">2110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00311"">K00311</a>]
 ETFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2108"">2108</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03522"">K03522</a>]
 ETFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2109"">2109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03521"">K03521</a>]
 CPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1376"">1376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08766"">K08766</a>]
 SLC25A20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:788"">788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15109"">K15109</a>]
 SLC7A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9056"">9056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13867"">K13867</a>]
 ALDH18A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5832"">5832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12657"">K12657</a>]
 PC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5091"">5091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01958"">K01958</a>]
 OAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4942"">4942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00819"">K00819</a>]
 CA5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:763"">763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01672"">K01672</a>]
 GLUD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2746"">2746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00261"">K00261</a>]
 TMEM70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54968"">54968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17966"">K17966</a>]
 GLUL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2752"">2752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01915"">K01915</a>]",,,,"アルギニングルタメート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02397"">D02397</a>]
 カルグルミン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07130"">D07130</a>]",,"ICD-11: 5C50.A
 ICD-10: E72.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D022124"">D022124</a>
 OMIM: <a href=""https://www.omim.org/entry/251000"">251000</a> <a href=""https://www.omim.org/entry/606054"">606054</a> <a href=""https://www.omim.org/entry/243500"">243500</a> <a href=""https://www.omim.org/entry/201450"">201450</a> <a href=""https://www.omim.org/entry/231680"">231680</a> <a href=""https://www.omim.org/entry/608836"">608836</a> <a href=""https://www.omim.org/entry/212138"">212138</a> <a href=""https://www.omim.org/entry/222700"">222700</a> <a href=""https://www.omim.org/entry/219150"">219150</a> <a href=""https://www.omim.org/entry/266150"">266150</a> <a href=""https://www.omim.org/entry/258870"">258870</a> <a href=""https://www.omim.org/entry/615751"">615751</a> <a href=""https://www.omim.org/entry/606762"">606762</a> <a href=""https://www.omim.org/entry/614052"">614052</a> <a href=""https://www.omim.org/entry/610015"">610015</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23628343"">23628343</a>
 著者        Haberle J
 タイトル      Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.
 雑誌        Arch Biochem Biophys 536:101-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.abb.2013.04.009"">10.1016/j.abb.2013.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19707277"">19707277</a> (drug)
 著者        Al Sibae MR, McGuire BM
 タイトル      Current trends in the treatment of hepatic encephalopathy.
 雑誌        Ther Clin Risk Manag 5:617-26 (2009)
 DOI:<a href=""https://doi.org/10.2147/TCRM.S4443"">10.2147/TCRM.S4443</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25895618"">25895618</a> (drug)
 著者        Matoori S, Leroux JC
 タイトル      Recent advances in the treatment of hyperammonemia.
 雑誌        Adv Drug Deliv Rev 90:55-68 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.addr.2015.04.009"">10.1016/j.addr.2015.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14085036"">14085036</a> (drug)
 著者        SCHROEDER HA
 タイトル      AN AMMONIA DETOXICANT, ARGININE GLUTAMATE.
 雑誌        JAMA 187:359-60 (1964)
 DOI:<a href=""https://doi.org/10.1001/jama.1964.03060180045014"">10.1001/jama.1964.03060180045014</a>"
H01401,メチシリン耐性表皮ブドウ球菌感染症,,,"The genus Staphylococcus known as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in the Staphylococcus genus, Staphylococcus aureus and Staphylococcus epidermis, colonize a sizable portion of the human population. S. epidermidis as the predominant species is quite widespread throughout the cutaneous ecosystem, whereas S. aureus colonizes primarily on mucosal surfaces. Staphylococcal infections are commonly caused by S. aureus. However, the infections due to S. epidermidis and other coagulase-negative staphylococci have been also increasing. S. epidermidis is primarily associated with infections of implanted medical devices, such as prosthetic heart valves and joint prostheses.",感染症,,,Staphylococcus epidermidis [GN:ser],,,バンコマイシン塩酸塩 [DR:D00926],,"ICD-11: MG51.Y
 ICD-10: B95","PMID:15774886
 著者        Gill SR, Fouts DE, Archer GL, Mongodin EF, Deboy RT, Ravel J, Paulsen IT, Kolonay JF, Brinkac L, Beanan M, Dodson RJ, Daugherty SC, Madupu R, Angiuoli SV, Durkin AS, Haft DH, Vamathevan J, Khouri H, Utterback T, Lee C, Dimitrov G, Jiang L, Qin H, Weidman J, Tran K, Kang K, Hance IR, Nelson KE, Fraser CM.
 タイトル      Insights on evolution of virulence and resistance from the complete genome analysis of an early methicillin-resistant Staphylococcus aureus strain and a biofilm-producing methicillin-resistant Staphylococcus epidermidis strain.
 雑誌        J Bacteriol 187:2426-38 (2005)
 DOI:10.1128/JB.187.7.2426-2438.2005
 PMID:20419353
 著者        Nomura K, Mizumachi E, Yamashita M, Ohshiro M, Komori T, Sugai M, Taniwaki M, Ishida Y
 タイトル      Drug susceptibility and clonality of methicillin-resistant Staphylococcus epidermidis in hospitalized patients with hematological malignancies.
 雑誌        Ir J Med Sci 179:351-6 (2010)
 DOI:10.1007/s11845-010-0481-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01401"">H01401</a>",メチシリン耐性表皮ブドウ球菌感染症,"The genus Staphylococcus known as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in the Staphylococcus genus, Staphylococcus aureus and Staphylococcus epidermis, colonize a sizable portion of the human population. S. epidermidis as the predominant species is quite widespread throughout the cutaneous ecosystem, whereas S. aureus colonizes primarily on mucosal surfaces. Staphylococcal infections are commonly caused by S. aureus. However, the infections due to S. epidermidis and other coagulase-negative staphylococci have been also increasing. S. epidermidis is primarily associated with infections of implanted medical devices, such as prosthetic heart valves and joint prostheses.",,,"Staphylococcus epidermidis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ser"">ser</a>]",,,"バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]",,"ICD-11: MG51.Y
 ICD-10: B95","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15774886"">15774886</a>
 著者        Gill SR, Fouts DE, Archer GL, Mongodin EF, Deboy RT, Ravel J, Paulsen IT, Kolonay JF, Brinkac L, Beanan M, Dodson RJ, Daugherty SC, Madupu R, Angiuoli SV, Durkin AS, Haft DH, Vamathevan J, Khouri H, Utterback T, Lee C, Dimitrov G, Jiang L, Qin H, Weidman J, Tran K, Kang K, Hance IR, Nelson KE, Fraser CM.
 タイトル      Insights on evolution of virulence and resistance from the complete genome analysis of an early methicillin-resistant Staphylococcus aureus strain and a biofilm-producing methicillin-resistant Staphylococcus epidermidis strain.
 雑誌        J Bacteriol 187:2426-38 (2005)
 DOI:<a href=""https://doi.org/10.1128/JB.187.7.2426-2438.2005"">10.1128/JB.187.7.2426-2438.2005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20419353"">20419353</a>
 著者        Nomura K, Mizumachi E, Yamashita M, Ohshiro M, Komori T, Sugai M, Taniwaki M, Ishida Y
 タイトル      Drug susceptibility and clonality of methicillin-resistant Staphylococcus epidermidis in hospitalized patients with hematological malignancies.
 雑誌        Ir J Med Sci 179:351-6 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11845-010-0481-7"">10.1007/s11845-010-0481-7</a>"
H01402,ニコライデス・ バライスター症候群,,,"Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease.",先天奇形,,SMARCA2 [HSA:6595] [KO:K11647],,,,,,"MeSH: C536116
 OMIM: 601358","PMID:22366787
 著者        Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR
 タイトル      Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
 雑誌        Nat Genet 44:445-9, S1 (2012)
 DOI:10.1038/ng.1105
 PMID:23010866
 著者        Santen GW, Kriek M, van Attikum H
 タイトル      SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
 雑誌        Epigenetics 7:1219-24 (2012)
 DOI:10.4161/epi.22299","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01402"">H01402</a>",ニコライデス・ バライスター症候群,"Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease.",,"SMARCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6595"">6595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11647"">K11647</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536116"">C536116</a>
 OMIM: <a href=""https://www.omim.org/entry/601358"">601358</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22366787"">22366787</a>
 著者        Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR
 タイトル      Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
 雑誌        Nat Genet 44:445-9, S1 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1105"">10.1038/ng.1105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23010866"">23010866</a>
 著者        Santen GW, Kriek M, van Attikum H
 タイトル      SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
 雑誌        Epigenetics 7:1219-24 (2012)
 DOI:<a href=""https://doi.org/10.4161/epi.22299"">10.4161/epi.22299</a>"
H01403,コフィン・シリス症候群,,,"Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease.",先天奇形,,"(CSS1) ARID1B [HSA:57492] [KO:K11653]
 (CSS2) ARID1A [HSA:8289] [KO:K11653]
 (CSS3) SMARCB1 [HSA:6598] [KO:K11648]
 (CSS4) SMARCA4 [HSA:6597] [KO:K11647]
 (CSS5) SMARCE1 [HSA:6605] [KO:K11651]
 (CSS6) ARID2 [HSA:196528] [KO:K11765]
 (CSS7) DPF2 [HSA:5977] [KO:K13196]
 (CSS8) SMARCC2 [HSA:6601] [KO:K11649]
 (CSS9) SOX11 [HSA:6664] [KO:K09268]
 (CSS10) SOX4 [HSA:6659] [KO:K23581]
 (CSS11) SMARCD1 [HSA:6602] [KO:K11650]
 (CSS12) BICRA [HSA:29998] [KO:K25612]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.1
 MeSH: C536436
 OMIM: 135900 614607 614608 614609 616938 617808 618027 618362 615866 618506 618779 619325","PMID:22426308
 著者        Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
 タイトル      Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:376-8 (2012)
 DOI:10.1038/ng.2219
 PMID:22426309
 著者        Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M
 タイトル      Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:379-80 (2012)
 DOI:10.1038/ng.2217
 PMID:23815551
 著者        Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N
 タイトル      Coffin-Siris syndrome is a SWI/SNF complex disorder.
 雑誌        Clin Genet 85:548-54 (2014)
 DOI:10.1111/cge.12225
 PMID:30661772
 著者        Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V
 タイトル      De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
 雑誌        Am J Hum Genet 104:246-259 (2019)
 DOI:10.1016/j.ajhg.2018.12.014
 PMID:30879640
 著者        Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Heron D, Depienne C, Titheradge H, Kramer JM, Campeau PM
 タイトル      A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
 雑誌        Am J Hum Genet 104:596-610 (2019)
 DOI:10.1016/j.ajhg.2019.02.001
 PMID:33232675
 著者        Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ
 タイトル      BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
 雑誌        Am J Hum Genet 107:1096-1112 (2020)
 DOI:10.1016/j.ajhg.2020.11.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01403"">H01403</a>",コフィン・シリス症候群,"Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease.",,"(CSS1) ARID1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57492"">57492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11653"">K11653</a>]
 (CSS2) ARID1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8289"">8289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11653"">K11653</a>]
 (CSS3) SMARCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6598"">6598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11648"">K11648</a>]
 (CSS4) SMARCA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6597"">6597</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11647"">K11647</a>]
 (CSS5) SMARCE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6605"">6605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11651"">K11651</a>]
 (CSS6) ARID2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:196528"">196528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11765"">K11765</a>]
 (CSS7) DPF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5977"">5977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13196"">K13196</a>]
 (CSS8) SMARCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6601"">6601</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11649"">K11649</a>]
 (CSS9) SOX11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6664"">6664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09268"">K09268</a>]
 (CSS10) SOX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6659"">6659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23581"">K23581</a>]
 (CSS11) SMARCD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6602"">6602</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11650"">K11650</a>]
 (CSS12) BICRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29998"">29998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25612"">K25612</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536436"">C536436</a>
 OMIM: <a href=""https://www.omim.org/entry/135900"">135900</a> <a href=""https://www.omim.org/entry/614607"">614607</a> <a href=""https://www.omim.org/entry/614608"">614608</a> <a href=""https://www.omim.org/entry/614609"">614609</a> <a href=""https://www.omim.org/entry/616938"">616938</a> <a href=""https://www.omim.org/entry/617808"">617808</a> <a href=""https://www.omim.org/entry/618027"">618027</a> <a href=""https://www.omim.org/entry/618362"">618362</a> <a href=""https://www.omim.org/entry/615866"">615866</a> <a href=""https://www.omim.org/entry/618506"">618506</a> <a href=""https://www.omim.org/entry/618779"">618779</a> <a href=""https://www.omim.org/entry/619325"">619325</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22426308"">22426308</a>
 著者        Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
 タイトル      Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:376-8 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2219"">10.1038/ng.2219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22426309"">22426309</a>
 著者        Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M
 タイトル      Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
 雑誌        Nat Genet 44:379-80 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2217"">10.1038/ng.2217</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23815551"">23815551</a>
 著者        Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N
 タイトル      Coffin-Siris syndrome is a SWI/SNF complex disorder.
 雑誌        Clin Genet 85:548-54 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12225"">10.1111/cge.12225</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30661772"">30661772</a>
 著者        Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V
 タイトル      De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
 雑誌        Am J Hum Genet 104:246-259 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.014"">10.1016/j.ajhg.2018.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30879640"">30879640</a>
 著者        Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Heron D, Depienne C, Titheradge H, Kramer JM, Campeau PM
 タイトル      A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
 雑誌        Am J Hum Genet 104:596-610 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.001"">10.1016/j.ajhg.2019.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33232675"">33232675</a>
 著者        Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ
 タイトル      BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
 雑誌        Am J Hum Genet 107:1096-1112 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.11.003"">10.1016/j.ajhg.2020.11.003</a>"
H01404,"点状掌蹠角化症
 下位グループ    Buschke-Fischer-Brauer 病
 点状掌蹠汗孔角化症
 尖端角化類弾力線維症
 上位グループ    掌蹠角化症 [DS:H01673]",,,"Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). PPKP has previously been mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1.",先天奇形,,"(PPKP1A) AAGAB [HSA:79719] [KO:K23878]
 (PPKP1B) COL14A1 [HSA:7373] [KO:K08133]",,,,,,"ICD-10: Q82.8
 MeSH: C536161 C535653
 OMIM: 148600 614936 175860 101850","PMID:23000146
 著者        Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM
 タイトル      Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
 雑誌        Am J Hum Genet 91:754-9 (2012)
 DOI:10.1016/j.ajhg.2012.08.024
 PMID:23064416
 著者        Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH
 タイトル      Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
 雑誌        Nat Genet 44:1272-6 (2012)
 DOI:10.1038/ng.2444
 PMID:22972947
 著者        Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ
 タイトル      Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
 雑誌        J Med Genet 49:563-8 (2012)
 DOI:10.1136/jmedgenet-2012-100868","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01404"">H01404</a>","点状掌蹠角化症
 下位グループ    Buschke-Fischer-Brauer 病
 点状掌蹠汗孔角化症
 尖端角化類弾力線維症
 上位グループ    掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). PPKP has previously been mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1.",,"(PPKP1A) AAGAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79719"">79719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23878"">K23878</a>]
 (PPKP1B) COL14A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7373"">7373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08133"">K08133</a>]",,,,,,"ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536161"">C536161</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535653"">C535653</a>
 OMIM: <a href=""https://www.omim.org/entry/148600"">148600</a> <a href=""https://www.omim.org/entry/614936"">614936</a> <a href=""https://www.omim.org/entry/175860"">175860</a> <a href=""https://www.omim.org/entry/101850"">101850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000146"">23000146</a>
 著者        Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM
 タイトル      Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
 雑誌        Am J Hum Genet 91:754-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.024"">10.1016/j.ajhg.2012.08.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23064416"">23064416</a>
 著者        Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH
 タイトル      Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
 雑誌        Nat Genet 44:1272-6 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2444"">10.1038/ng.2444</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22972947"">22972947</a>
 著者        Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ
 タイトル      Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
 雑誌        J Med Genet 49:563-8 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100868"">10.1136/jmedgenet-2012-100868</a>"
H01405,Lactococcus garvieae 感染,,,"Lactococcus garvieae, catalase-negative, facultative anaerobic cocci, is a major pathogen of fish and causes fatal hemorrhagic septicemia in fish such as yellowtail and trout, and it has also been isolated from buffaloes with mastitis, and clinical specimens of human blood, urine, and skin. However, it is an unusual human pathogen. Only a few infections have been described so far, including several cases of infective endocarditis on native or prosthetic valve, one case of osteomyelitis, and septicaemia with liver abscess.",感染症,,,Lactococcus garvieae [GN:lgv],,,,,,"PMID:21935642
 著者        Nadrah K, Cerar T, Papst L, Volkar-Meglic J, Maticic M, Karner P, Vidmar L, Premru MM, Beovic B
 タイトル      Lactococcus garvieae septicaemia in a patient with artificial heart valves.
 雑誌        Wien Klin Wochenschr 123:677-9 (2011)
 DOI:10.1007/s00508-011-0059-z
 PMID:21829716
 著者        Morita H, Toh H, Oshima K, Yoshizaki M, Kawanishi M, Nakaya K, Suzuki T, Miyauchi E, Ishii Y, Tanabe S, Murakami M, Hattori M
 タイトル      Complete genome sequence and comparative analysis of the fish pathogen Lactococcus garvieae.
 雑誌        PLoS One 6:e23184 (2011)
 DOI:10.1371/journal.pone.0023184","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01405"">H01405</a>",Lactococcus garvieae 感染,"Lactococcus garvieae, catalase-negative, facultative anaerobic cocci, is a major pathogen of fish and causes fatal hemorrhagic septicemia in fish such as yellowtail and trout, and it has also been isolated from buffaloes with mastitis, and clinical specimens of human blood, urine, and skin. However, it is an unusual human pathogen. Only a few infections have been described so far, including several cases of infective endocarditis on native or prosthetic valve, one case of osteomyelitis, and septicaemia with liver abscess.",,,"Lactococcus garvieae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:lgv"">lgv</a>]",,,,,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21935642"">21935642</a>
 著者        Nadrah K, Cerar T, Papst L, Volkar-Meglic J, Maticic M, Karner P, Vidmar L, Premru MM, Beovic B
 タイトル      Lactococcus garvieae septicaemia in a patient with artificial heart valves.
 雑誌        Wien Klin Wochenschr 123:677-9 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00508-011-0059-z"">10.1007/s00508-011-0059-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21829716"">21829716</a>
 著者        Morita H, Toh H, Oshima K, Yoshizaki M, Kawanishi M, Nakaya K, Suzuki T, Miyauchi E, Ishii Y, Tanabe S, Murakami M, Hattori M
 タイトル      Complete genome sequence and comparative analysis of the fish pathogen Lactococcus garvieae.
 雑誌        PLoS One 6:e23184 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0023184"">10.1371/journal.pone.0023184</a>"
H01406,Streptococcus suis 感染,,,"Streptococcus suis, a Gram positive coccus, is a zoonotic pathogen that infects pigs and can occasionally cause serious infections in humans. The first case in humans was reported in Denmark in 1968. Human infection with S. suis occurs sporadically in Europe and North-America and case reports suggest that it is almost exclusively related to occupational exposure to pigs or pork products. Incidences of human infection with S. suis are greater in S.E. Asia and China. Meningitis is the most common presentation in humans, but septicaemia and endocarditis are also seen.",感染症,,,Streptococcus suis [GN:ssb ssu ssv sss ssw],,,,,"ICD-11: 1B53
 ICD-10: G00.2
 MeSH: D008581","PMID:19603075
 著者        Holden MT, Hauser H, Sanders M, Ngo TH, Cherevach I, Cronin A, Goodhead I, Mungall K, Quail MA, Price C, Rabbinowitsch E, Sharp S, Croucher NJ, Chieu TB, Mai NT, Diep TS, Chinh NT, Kehoe M, Leigh JA, Ward PN, Dowson CG, Whatmore AM, Chanter N, Iversen P, Gottschalk M, Slater JD, Smith HE, Spratt BG, Xu J, Ye C, Bentley S, Barrell BG, Schultsz C, Maskell DJ, Parkhill J
 タイトル      Rapid evolution of virulence and drug resistance in the emerging zoonotic pathogen Streptococcus suis.
 雑誌        PLoS One 4:e6072 (2009)
 DOI:10.1371/journal.pone.0006072
 PMID:17375201
 著者        Chen C, Tang J, Dong W, Wang C, Feng Y, Wang J, Zheng F, Pan X, Liu D, Li M, Song Y, Zhu X, Sun H, Feng T, Guo Z, Ju A, Ge J, Dong Y, Sun W, Jiang Y, Wang J, Yan J, Yang H, Wang X, Gao GF, Yang R, Wang J, Yu J.
 タイトル      A glimpse of streptococcal toxic shock syndrome from comparative genomics of S. suis 2 Chinese isolates.
 雑誌        PLoS One 2:e315 (2007)
 DOI:10.1371/journal.pone.0000315","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01406"">H01406</a>",Streptococcus suis 感染,"Streptococcus suis, a Gram positive coccus, is a zoonotic pathogen that infects pigs and can occasionally cause serious infections in humans. The first case in humans was reported in Denmark in 1968. Human infection with S. suis occurs sporadically in Europe and North-America and case reports suggest that it is almost exclusively related to occupational exposure to pigs or pork products. Incidences of human infection with S. suis are greater in S.E. Asia and China. Meningitis is the most common presentation in humans, but septicaemia and endocarditis are also seen.",,,"Streptococcus suis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssb"">ssb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssu"">ssu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssv"">ssv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sss"">sss</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssw"">ssw</a>]",,,,,"ICD-11: 1B53
 ICD-10: G00.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008581"">D008581</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19603075"">19603075</a>
 著者        Holden MT, Hauser H, Sanders M, Ngo TH, Cherevach I, Cronin A, Goodhead I, Mungall K, Quail MA, Price C, Rabbinowitsch E, Sharp S, Croucher NJ, Chieu TB, Mai NT, Diep TS, Chinh NT, Kehoe M, Leigh JA, Ward PN, Dowson CG, Whatmore AM, Chanter N, Iversen P, Gottschalk M, Slater JD, Smith HE, Spratt BG, Xu J, Ye C, Bentley S, Barrell BG, Schultsz C, Maskell DJ, Parkhill J
 タイトル      Rapid evolution of virulence and drug resistance in the emerging zoonotic pathogen Streptococcus suis.
 雑誌        PLoS One 4:e6072 (2009)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0006072"">10.1371/journal.pone.0006072</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17375201"">17375201</a>
 著者        Chen C, Tang J, Dong W, Wang C, Feng Y, Wang J, Zheng F, Pan X, Liu D, Li M, Song Y, Zhu X, Sun H, Feng T, Guo Z, Ju A, Ge J, Dong Y, Sun W, Jiang Y, Wang J, Yan J, Yang H, Wang X, Gao GF, Yang R, Wang J, Yu J.
 タイトル      A glimpse of streptococcal toxic shock syndrome from comparative genomics of S. suis 2 Chinese isolates.
 雑誌        PLoS One 2:e315 (2007)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0000315"">10.1371/journal.pone.0000315</a>"
H01407,Capnocytophaga ochracea 感染,,,"Capnocytophaga ochracea is a Gram-negative bacterium, capnophilic (CO2-requiring) organism, originally isolated from a human oral cavity. C. ochracea is a normal inhabitant of the human mouth and other non-oral sites and associated with juvenile and adult periodontitis and may cause severe infections in immunocompromised as well as in immunocompetent patients.",感染症,,,Capnocytophaga ochracea [GN:coc],,,,,"ICD-11: DA0Z
 ICD-10: K05
 MeSH: D010518","PMID:21304645
 著者        Mavrommatis K, Gronow S, Saunders E, Land M, Lapidus A, Copeland A, Glavina Del Rio T, Nolan M, Lucas S, Chen F, Tice H, Cheng JF, Bruce D, Goodwin L, Pitluck S, Pati A, Ivanova N, Chen A, Palaniappan K, Chain P, Hauser L, Chang YJ, Jeffries CD, Brettin T, Detter JC, Han C, Bristow J, Goker M, Rohde M, Eisen JA, Markowitz V, Kyrpides NC, Klenk HP, Hugenholtz P
 タイトル      Complete genome sequence of Capnocytophaga ochracea type strain (VPI 2845).
 雑誌        Stand Genomic Sci 1:101-9 (2009)
 DOI:10.4056/sigs.15195","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01407"">H01407</a>",Capnocytophaga ochracea 感染,"Capnocytophaga ochracea is a Gram-negative bacterium, capnophilic (CO2-requiring) organism, originally isolated from a human oral cavity. C. ochracea is a normal inhabitant of the human mouth and other non-oral sites and associated with juvenile and adult periodontitis and may cause severe infections in immunocompromised as well as in immunocompetent patients.",,,"Capnocytophaga ochracea [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:coc"">coc</a>]",,,,,"ICD-11: DA0Z
 ICD-10: K05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010518"">D010518</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21304645"">21304645</a>
 著者        Mavrommatis K, Gronow S, Saunders E, Land M, Lapidus A, Copeland A, Glavina Del Rio T, Nolan M, Lucas S, Chen F, Tice H, Cheng JF, Bruce D, Goodwin L, Pitluck S, Pati A, Ivanova N, Chen A, Palaniappan K, Chain P, Hauser L, Chang YJ, Jeffries CD, Brettin T, Detter JC, Han C, Bristow J, Goker M, Rohde M, Eisen JA, Markowitz V, Kyrpides NC, Klenk HP, Hugenholtz P
 タイトル      Complete genome sequence of Capnocytophaga ochracea type strain (VPI 2845).
 雑誌        Stand Genomic Sci 1:101-9 (2009)
 DOI:<a href=""https://doi.org/10.4056/sigs.15195"">10.4056/sigs.15195</a>"
H01408,"歯周疾患;
 歯周病
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"During the early stages of the periodontal disease, saccharolytic, aerobic Streptococcus spp. and other bacteria adhere to and colonize the tooth enamel and root surface. This sets the stage for Fusobacterium nucleatum to coaggregate with these early colonizers and to permit late colonizers, including dental pathogens, to eventually form a biofilm. These complex interactions result in the release of factors that lead to tooth decay. Physical interaction is very specific among various genera in this complex microbial community. Due to the unusual length, adhesive nature, and other cell surface properties of F. nucleatum, periodontal disease-causing bacteria such as Porphyromonas gingivalis, Bacteroides forsythus, Aggregatibacter actinomycetemcomitans, Treponema denticola, and Streptococcus spp. aggregate and thrive; hence, F. nucleatum is thought of as a 'bridge bacterium'.",感染症,,,"Fusobacterium nucleatum [GN:fnu]
 Porphyromonas gingivalis [GN:pgi pgn pgt]
 Treponema denticola [GN:tde]
 Treponema putidum [GN:tpk]
 Treponema sp. OMZ 838 [GN:trm]
 Aggregatibacter actinomycetemcomitans [GN:aat aan]
 Olsenella uli [GN:ols]
 Cryptobacterium curtum [GN:ccu]",,,"クロラムフェニコール [DR:D00104]
 アジスロマイシン水和物 [DR:D02134]
 オフロキサシン [DR:D00453]
 レボフロキサシン水和物 [DR:D00588]
 トスフロキサシントシル酸塩水和物 [DR:D01996]
 ジフェンヒドラミンサリチル酸塩・ヒドロコルチゾン酢酸エステル・ベンザルコニウム塩化物・クロルヘキシジン塩酸塩 [DR:D04425]
 オキシテトラサイクリン塩酸塩・ヒドロコルチゾン [DR:D04776]
 ミノサイクリン塩酸塩 [DR:D00850]
 ヒドロコルチゾン酢酸エステル・ヒノキチオール・アミノ安息香酸エチル [DR:D04879]
 アモキシシリン水和物 [DR:D00229]
 バカンピシリン塩酸塩 [DR:D00927]
 セファレキシン [DR:D00263]
 セフジトレンピボキシル [DR:D01628]
 セフテラムピボキシル [DR:D01686]
 ロキシスロマイシン [DR:D01710]
 クラリスロマイシン [DR:D00276]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]",,"ICD-11: DA0C
 ICD-10: K05
 MeSH: D010510","PMID:11889109
 著者        Kapatral V, Anderson I, Ivanova N, Reznik G, Los T, Lykidis A, Bhattacharyya A, Bartman A, Gardner W, Grechkin G, Zhu L, Vasieva O, Chu L, Kogan Y, Chaga O, Goltsman E, Bernal A, Larsen N, D'Souza M, Walunas T, Pusch G, Haselkorn R, Fonstein M, Kyrpides N, Overbeek R.
 タイトル      Genome sequence and analysis of the oral bacterium Fusobacterium nucleatum strain ATCC 25586.
 雑誌        J Bacteriol 184:2005-18 (2002)
 DOI:10.1128/JB.184.7.2005-2018.2002
 PMID:12949112 (pathogen)
 著者        Nelson KE, Fleischmann RD, DeBoy RT, Paulsen IT, Fouts DE, Eisen JA, Daugherty SC, Dodson RJ, Durkin AS, Gwinn M, Haft DH, Kolonay JF, Nelson WC, Mason T, Tallon L, Gray J, Granger D, Tettelin H, Dong H, Galvin JL, Duncan MJ, Dewhirst FE, Fraser CM.
 タイトル      Complete genome sequence of the oral pathogenic Bacterium porphyromonas gingivalis strain W83.
 雑誌        J Bacteriol 185:5591-601 (2003)
 DOI:10.1128/JB.185.18.5591-5601.2003
 PMID:18524787 (pathogen)
 著者        Naito M, Hirakawa H, Yamashita A, Ohara N, Shoji M, Yukitake H, Nakayama K, Toh H, Yoshimura F, Kuhara S, Hattori M, Hayashi T, Nakayama K.
 タイトル      Determination of the genome sequence of Porphyromonas gingivalis strain ATCC 33277 and genomic comparison with strain W83 revealed extensive genome rearrangements in P. gingivalis.
 雑誌        DNA Res 15:215-25 (2008)
 DOI:10.1093/dnares/dsn013
 PMID:21705612 (pathogen)
 著者        Watanabe T, Maruyama F, Nozawa T, Aoki A, Okano S, Shibata Y, Oshima K, Kurokawa K, Hattori M, Nakagawa I, Abiko Y
 タイトル      Complete genome sequence of the bacterium Porphyromonas gingivalis TDC60, which causes periodontal disease.
 雑誌        J Bacteriol 193:4259-60 (2011)
 DOI:10.1128/JB.05269-11
 PMID:15064399 (pathogen)
 著者        Seshadri R, Myers GS, Tettelin H, Eisen JA, Heidelberg JF, Dodson RJ, Davidsen TM, DeBoy RT, Fouts DE, Haft DH, Selengut J, Ren Q, Brinkac LM, Madupu R, Kolonay J, Durkin SA, Daugherty SC, Shetty J, Shvartsbeyn A, Gebregeorgis E, Geer K, Tsegaye G, Malek J, Ayodeji B, Shatsman S, McLeod MP, Smajs D, Howell JK, Pal S, Amin A, Vashisth P, McNeill TZ, Xiang Q, Sodergren E, Baca E, Weinstock GM, Norris SJ, Fraser CM, Paulsen IT.
 タイトル      Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes.
 雑誌        Proc Natl Acad Sci U S A 101:5646-51 (2004)
 DOI:10.1073/pnas.0307639101
 PMID:17488447
 著者        Thiha K, Takeuchi Y, Umeda M, Huang Y, Ohnishi M, Ishikawa I
 タイトル      Identification of periodontopathic bacteria in gingival tissue of Japanese periodontitis patients.
 雑誌        Oral Microbiol Immunol 22:201-7 (2007)
 DOI:10.1111/j.1399-302X.2007.00354.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01408"">H01408</a>","歯周疾患;
 歯周病
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","During the early stages of the periodontal disease, saccharolytic, aerobic Streptococcus spp. and other bacteria adhere to and colonize the tooth enamel and root surface. This sets the stage for Fusobacterium nucleatum to coaggregate with these early colonizers and to permit late colonizers, including dental pathogens, to eventually form a biofilm. These complex interactions result in the release of factors that lead to tooth decay. Physical interaction is very specific among various genera in this complex microbial community. Due to the unusual length, adhesive nature, and other cell surface properties of F. nucleatum, periodontal disease-causing bacteria such as Porphyromonas gingivalis, Bacteroides forsythus, Aggregatibacter actinomycetemcomitans, Treponema denticola, and Streptococcus spp. aggregate and thrive; hence, F. nucleatum is thought of as a 'bridge bacterium'.",,,"Fusobacterium nucleatum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:fnu"">fnu</a>]
 Porphyromonas gingivalis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pgi"">pgi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pgn"">pgn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pgt"">pgt</a>]
 Treponema denticola [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tde"">tde</a>]
 Treponema putidum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tpk"">tpk</a>]
 Treponema sp. OMZ 838 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:trm"">trm</a>]
 Aggregatibacter actinomycetemcomitans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aat"">aat</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:aan"">aan</a>]
 Olsenella uli [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ols"">ols</a>]
 Cryptobacterium curtum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ccu"">ccu</a>]",,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 アジスロマイシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02134"">D02134</a>]
 オフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00453"">D00453</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 ジフェンヒドラミンサリチル酸塩・ヒドロコルチゾン酢酸エステル・ベンザルコニウム塩化物・クロルヘキシジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04425"">D04425</a>]
 オキシテトラサイクリン塩酸塩・ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04776"">D04776</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ヒドロコルチゾン酢酸エステル・ヒノキチオール・アミノ安息香酸エチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04879"">D04879</a>]
 アモキシシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00229"">D00229</a>]
 バカンピシリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00927"">D00927</a>]
 セファレキシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00263"">D00263</a>]
 セフジトレンピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01628"">D01628</a>]
 セフテラムピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01686"">D01686</a>]
 ロキシスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01710"">D01710</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]",,"ICD-11: DA0C
 ICD-10: K05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010510"">D010510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11889109"">11889109</a>
 著者        Kapatral V, Anderson I, Ivanova N, Reznik G, Los T, Lykidis A, Bhattacharyya A, Bartman A, Gardner W, Grechkin G, Zhu L, Vasieva O, Chu L, Kogan Y, Chaga O, Goltsman E, Bernal A, Larsen N, D'Souza M, Walunas T, Pusch G, Haselkorn R, Fonstein M, Kyrpides N, Overbeek R.
 タイトル      Genome sequence and analysis of the oral bacterium Fusobacterium nucleatum strain ATCC 25586.
 雑誌        J Bacteriol 184:2005-18 (2002)
 DOI:<a href=""https://doi.org/10.1128/JB.184.7.2005-2018.2002"">10.1128/JB.184.7.2005-2018.2002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12949112"">12949112</a> (pathogen)
 著者        Nelson KE, Fleischmann RD, DeBoy RT, Paulsen IT, Fouts DE, Eisen JA, Daugherty SC, Dodson RJ, Durkin AS, Gwinn M, Haft DH, Kolonay JF, Nelson WC, Mason T, Tallon L, Gray J, Granger D, Tettelin H, Dong H, Galvin JL, Duncan MJ, Dewhirst FE, Fraser CM.
 タイトル      Complete genome sequence of the oral pathogenic Bacterium porphyromonas gingivalis strain W83.
 雑誌        J Bacteriol 185:5591-601 (2003)
 DOI:<a href=""https://doi.org/10.1128/JB.185.18.5591-5601.2003"">10.1128/JB.185.18.5591-5601.2003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18524787"">18524787</a> (pathogen)
 著者        Naito M, Hirakawa H, Yamashita A, Ohara N, Shoji M, Yukitake H, Nakayama K, Toh H, Yoshimura F, Kuhara S, Hattori M, Hayashi T, Nakayama K.
 タイトル      Determination of the genome sequence of Porphyromonas gingivalis strain ATCC 33277 and genomic comparison with strain W83 revealed extensive genome rearrangements in P. gingivalis.
 雑誌        DNA Res 15:215-25 (2008)
 DOI:<a href=""https://doi.org/10.1093/dnares/dsn013"">10.1093/dnares/dsn013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21705612"">21705612</a> (pathogen)
 著者        Watanabe T, Maruyama F, Nozawa T, Aoki A, Okano S, Shibata Y, Oshima K, Kurokawa K, Hattori M, Nakagawa I, Abiko Y
 タイトル      Complete genome sequence of the bacterium Porphyromonas gingivalis TDC60, which causes periodontal disease.
 雑誌        J Bacteriol 193:4259-60 (2011)
 DOI:<a href=""https://doi.org/10.1128/JB.05269-11"">10.1128/JB.05269-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15064399"">15064399</a> (pathogen)
 著者        Seshadri R, Myers GS, Tettelin H, Eisen JA, Heidelberg JF, Dodson RJ, Davidsen TM, DeBoy RT, Fouts DE, Haft DH, Selengut J, Ren Q, Brinkac LM, Madupu R, Kolonay J, Durkin SA, Daugherty SC, Shetty J, Shvartsbeyn A, Gebregeorgis E, Geer K, Tsegaye G, Malek J, Ayodeji B, Shatsman S, McLeod MP, Smajs D, Howell JK, Pal S, Amin A, Vashisth P, McNeill TZ, Xiang Q, Sodergren E, Baca E, Weinstock GM, Norris SJ, Fraser CM, Paulsen IT.
 タイトル      Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes.
 雑誌        Proc Natl Acad Sci U S A 101:5646-51 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0307639101"">10.1073/pnas.0307639101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17488447"">17488447</a>
 著者        Thiha K, Takeuchi Y, Umeda M, Huang Y, Ohnishi M, Ishikawa I
 タイトル      Identification of periodontopathic bacteria in gingival tissue of Japanese periodontitis patients.
 雑誌        Oral Microbiol Immunol 22:201-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1399-302X.2007.00354.x"">10.1111/j.1399-302X.2007.00354.x</a>"
H01409,メチシリン感受性黄色ブドウ球菌感染症,,,"Staphylococcus aureus is a Gram-positive human commensal bacterium persistently colonizing the anterior nares of about 30% of the human population. Methicillin-resistant S. aureus (MRSA) is known to have evolved from methicillin-susceptible S. aureus (MSSA) after acquiring the staphylococcal cassette chromosome mec (SCCmec) element which includes the mecA gene coding for resistance to the antibiotic methicillin. A highly cytotoxic and clinically virulent methicillin-sensitive strain, S. aureus strain 6850 is a well-characterized prototype strain isolated from a patient with a skin abscess which had progressed to S. aureus bacteremia, osteomyelitis, septic arthritis, and multiple systemic abscesses.",感染症,,,Staphylococcus aureus [GN:sas suc sud saue],,,,,"ICD-10: B95
 MeSH: D013203","PMID:24072870
 著者        Fraunholz M, Bernhardt J, Schuldes J, Daniel R, Hecker M, Sinha B
 タイトル      Complete Genome Sequence of Staphylococcus aureus 6850, a Highly Cytotoxic and Clinically Virulent Methicillin-Sensitive Strain with Distant Relatedness to Prototype Strains.
 雑誌        Genome Announc 1:e00775-13 (2013)
 DOI:10.1128/genomeA.00775-13
 PMID:23183202
 著者        Lim KT, Yeo CC, Suhaili Z, Thong KL
 タイトル      Comparison of methicillin-resistant and methicillin-sensitive Staphylococcus aureus strains isolated from a tertiary hospital in Terengganu, Malaysia.
 雑誌        Jpn J Infect Dis 65:502-9 (2012)
 DOI:10.7883/yoken.65.502","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01409"">H01409</a>",メチシリン感受性黄色ブドウ球菌感染症,"Staphylococcus aureus is a Gram-positive human commensal bacterium persistently colonizing the anterior nares of about 30% of the human population. Methicillin-resistant S. aureus (MRSA) is known to have evolved from methicillin-susceptible S. aureus (MSSA) after acquiring the staphylococcal cassette chromosome mec (SCCmec) element which includes the mecA gene coding for resistance to the antibiotic methicillin. A highly cytotoxic and clinically virulent methicillin-sensitive strain, S. aureus strain 6850 is a well-characterized prototype strain isolated from a patient with a skin abscess which had progressed to S. aureus bacteremia, osteomyelitis, septic arthritis, and multiple systemic abscesses.",,,"Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sas"">sas</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:suc"">suc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sud"">sud</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saue"">saue</a>]",,,,,"ICD-10: B95
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013203"">D013203</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24072870"">24072870</a>
 著者        Fraunholz M, Bernhardt J, Schuldes J, Daniel R, Hecker M, Sinha B
 タイトル      Complete Genome Sequence of Staphylococcus aureus 6850, a Highly Cytotoxic and Clinically Virulent Methicillin-Sensitive Strain with Distant Relatedness to Prototype Strains.
 雑誌        Genome Announc 1:e00775-13 (2013)
 DOI:<a href=""https://doi.org/10.1128/genomeA.00775-13"">10.1128/genomeA.00775-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23183202"">23183202</a>
 著者        Lim KT, Yeo CC, Suhaili Z, Thong KL
 タイトル      Comparison of methicillin-resistant and methicillin-sensitive Staphylococcus aureus strains isolated from a tertiary hospital in Terengganu, Malaysia.
 雑誌        Jpn J Infect Dis 65:502-9 (2012)
 DOI:<a href=""https://doi.org/10.7883/yoken.65.502"">10.7883/yoken.65.502</a>"
H01410,"嫌気性菌感染症
 下位グループ    ウェルシュ菌食中毒 [DS:H00335]
 ガス壊疽 [DS:H00336]
 ボツリヌス中毒症 [DS:H00339]
 破傷風 [DS:H00337]
 偽膜性大腸炎 [DS:H00338]
 Propionibacterium acnes 感染 [DS:H01446]
 尋常性座瘡 [DS:H01445]
 歯周疾患 [DS:H01408]
 急性壊死性潰瘍性歯肉炎 [DS:H01440]
 Bacteroides 感染症 [DS:H02076]",,,"Anaerobic infections are common and some are serious with a high mortality rate. The clinically important anaerobes are several genera of Gram-negative rods (Bacteroides, Prevotella, Porphyromonas, Fusobacterium and Bilophila). Among the Gram-positive anaerobes, there are cocci (primarily Peptostreptococcus) and sporeforming (Clostridium) and non-sporeforming bacilli (especially Actinomyces and Propionibacterium). In terms of frequency, there are four major sites of anaerobic infection - pleuropulmonary, intra-abdominal, female genital tract, and skin and soft tissue infections (with or without involvement of underlying bone). Infectious diseases caused by these anaerobes include following symptoms, bacteremia, brain abscess, neck space infections and infections following head and neck surgery, chronic sinusitis and otitis media, dental and oral infections, pleuropulmonary infections, intra-abdominal infections, female genital tract infections, non-puerperal breast abscesses and diabetic foot ulcers.",感染症,,,,,,,"Infectious disease caused by Bacteroides spp., Prevotella spp., Porphyromonas spp., Porphyromonas spp., Fusobacterium spp., Peptostreptococcus spp., Clostridium spp., Bilophila spp. and Actinomyces spp..",ICD-10: A49 B96,"PMID:16887500
 著者        Finegold SM
 タイトル      Anaerobic infections in humans: an overview.
 雑誌        Anaerobe 1:3-9 (1995)
 DOI:10.1016/S1075-9964(95)80340-8
 PMID:18263572
 著者        Goto T, Yamashita A, Hirakawa H, Matsutani M, Todo K, Ohshima K, Toh H, Miyamoto K, Kuhara S, Hattori M, Shimizu T, Akimoto S.
 タイトル      Complete genome sequence of Finegoldia magna, an anaerobic opportunistic pathogen.
 雑誌        DNA Res 15:39-47 (2008)
 DOI:10.1093/dnares/dsm030","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>","嫌気性菌感染症
 下位グループ    ウェルシュ菌食中毒 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00335"">H00335</a>]
 ガス壊疽 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00336"">H00336</a>]
 ボツリヌス中毒症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00339"">H00339</a>]
 破傷風 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00337"">H00337</a>]
 偽膜性大腸炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00338"">H00338</a>]
 Propionibacterium acnes 感染 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01446"">H01446</a>]
 尋常性座瘡 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01445"">H01445</a>]
 歯周疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01408"">H01408</a>]
 急性壊死性潰瘍性歯肉炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01440"">H01440</a>]
 Bacteroides 感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02076"">H02076</a>]","Anaerobic infections are common and some are serious with a high mortality rate. The clinically important anaerobes are several genera of Gram-negative rods (Bacteroides, Prevotella, Porphyromonas, Fusobacterium and Bilophila). Among the Gram-positive anaerobes, there are cocci (primarily Peptostreptococcus) and sporeforming (Clostridium) and non-sporeforming bacilli (especially Actinomyces and Propionibacterium). In terms of frequency, there are four major sites of anaerobic infection - pleuropulmonary, intra-abdominal, female genital tract, and skin and soft tissue infections (with or without involvement of underlying bone). Infectious diseases caused by these anaerobes include following symptoms, bacteremia, brain abscess, neck space infections and infections following head and neck surgery, chronic sinusitis and otitis media, dental and oral infections, pleuropulmonary infections, intra-abdominal infections, female genital tract infections, non-puerperal breast abscesses and diabetic foot ulcers.",,,,,,,"Infectious disease caused by Bacteroides spp., Prevotella spp., Porphyromonas spp., Porphyromonas spp., Fusobacterium spp., Peptostreptococcus spp., Clostridium spp., Bilophila spp. and Actinomyces spp..",ICD-10: A49 B96,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16887500"">16887500</a>
 著者        Finegold SM
 タイトル      Anaerobic infections in humans: an overview.
 雑誌        Anaerobe 1:3-9 (1995)
 DOI:<a href=""https://doi.org/10.1016/S1075-9964(95)80340-8"">10.1016/S1075-9964(95)80340-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18263572"">18263572</a>
 著者        Goto T, Yamashita A, Hirakawa H, Matsutani M, Todo K, Ohshima K, Toh H, Miyamoto K, Kuhara S, Hattori M, Shimizu T, Akimoto S.
 タイトル      Complete genome sequence of Finegoldia magna, an anaerobic opportunistic pathogen.
 雑誌        DNA Res 15:39-47 (2008)
 DOI:<a href=""https://doi.org/10.1093/dnares/dsm030"">10.1093/dnares/dsm030</a>"
H01411,Saccharomonospora viridis 感染,,,"Saccharomonospora viridis is the type species of the genus Saccharomonospora which belongs to the family Pseudonocardiaceae. Members of the species are frequently found in hot compost and hay, and its spores can cause farmer's lung disease, bagassosis, and humidifier fever. Spores of S. viridis are readily dispersed in air, and the prolonged exposure to spores can apparently result in acute respiratory distress which may lead to irreversible lung damage.",感染症,,,Saccharomonospora viridis [GN:svi],,,,,"ICD-11: CA70
 ICD-10: J67","PMID:21304650
 著者        Pati A, Sikorski J, Nolan M, Lapidus A, Copeland A, Glavina Del Rio T, Lucas S, Chen F, Tice H, Pitluck S, Cheng JF, Chertkov O, Brettin T, Han C, Detter JC, Kuske C, Bruce D, Goodwin L, Chain P, D'haeseleer P, Chen A, Palaniappan K, Ivanova N, Mavromatis K, Mikhailova N, Rohde M, Tindall BJ, Goker M, Bristow J, Eisen JA, Markowitz V, Hugenholtz P, Kyrpides NC, Klenk HP
 タイトル      Complete genome sequence of Saccharomonospora viridis type strain (P101).
 雑誌        Stand Genomic Sci 1:141-9 (2009)
 DOI:10.4056/sigs.20263","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01411"">H01411</a>",Saccharomonospora viridis 感染,"Saccharomonospora viridis is the type species of the genus Saccharomonospora which belongs to the family Pseudonocardiaceae. Members of the species are frequently found in hot compost and hay, and its spores can cause farmer's lung disease, bagassosis, and humidifier fever. Spores of S. viridis are readily dispersed in air, and the prolonged exposure to spores can apparently result in acute respiratory distress which may lead to irreversible lung damage.",,,"Saccharomonospora viridis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:svi"">svi</a>]",,,,,"ICD-11: CA70
 ICD-10: J67","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21304650"">21304650</a>
 著者        Pati A, Sikorski J, Nolan M, Lapidus A, Copeland A, Glavina Del Rio T, Lucas S, Chen F, Tice H, Pitluck S, Cheng JF, Chertkov O, Brettin T, Han C, Detter JC, Kuske C, Bruce D, Goodwin L, Chain P, D'haeseleer P, Chen A, Palaniappan K, Ivanova N, Mavromatis K, Mikhailova N, Rohde M, Tindall BJ, Goker M, Bristow J, Eisen JA, Markowitz V, Hugenholtz P, Kyrpides NC, Klenk HP
 タイトル      Complete genome sequence of Saccharomonospora viridis type strain (P101).
 雑誌        Stand Genomic Sci 1:141-9 (2009)
 DOI:<a href=""https://doi.org/10.4056/sigs.20263"">10.4056/sigs.20263</a>"
H01412,パールマン症候群,,,"Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease.",先天奇形,,DIS3L2 [HSA:129563] [KO:K18758],,,,,Perlman syndrome is with phenotypic similarities to Beckwith-Wiedemann syndrome. [DS:H00713],"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C536399
 OMIM: 267000","PMID:22306653
 著者        Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Muller F, Pruijn GJ, Latif F, Maher ER
 タイトル      Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
 雑誌        Nat Genet 44:277-84 (2012)
 DOI:10.1038/ng.1071
 PMID:18780370
 著者        Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Riviere JP, Rossignol S
 タイトル      Perlman syndrome: report, prenatal findings and review.
 雑誌        Am J Med Genet A 146A:2532-7 (2008)
 DOI:10.1002/ajmg.a.32391","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01412"">H01412</a>",パールマン症候群,"Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease.",,"DIS3L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:129563"">129563</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18758"">K18758</a>]",,,,,"Perlman syndrome is with phenotypic similarities to Beckwith-Wiedemann syndrome. [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00713"">H00713</a>]","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536399"">C536399</a>
 OMIM: <a href=""https://www.omim.org/entry/267000"">267000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22306653"">22306653</a>
 著者        Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Muller F, Pruijn GJ, Latif F, Maher ER
 タイトル      Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
 雑誌        Nat Genet 44:277-84 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1071"">10.1038/ng.1071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18780370"">18780370</a>
 著者        Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Riviere JP, Rossignol S
 タイトル      Perlman syndrome: report, prenatal findings and review.
 雑誌        Am J Med Genet A 146A:2532-7 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32391"">10.1002/ajmg.a.32391</a>"
H01413,アダムズ・オリバー症候群,,,"Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal recessive AOS.",先天奇形,,"(AOS1) ARHGAP31 [HSA:57514] [KO:K20646]
 (AOS2) DOCK6 [HSA:57572] [KO:K21852]
 (AOS3) RBPJ [HSA:3516] [KO:K06053]
 (AOS4) EOGT [HSA:285203] [KO:K18134]
 (AOS5) NOTCH1 [HSA:4851] [KO:K02599]
 (AOS6) DLL4 [HSA:54567] [KO:K06051]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: C538225
 OMIM: 100300 614219 614814 615297 616028 616589","PMID:22307742
 著者        Silva G, Braga A, Leitao B, Mesquita A, Reis A, Duarte C, Barbot J, Silva ES
 タイトル      Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?
 雑誌        Am J Med Genet A 158A:648-51 (2012)
 DOI:10.1002/ajmg.a.34435
 PMID:21565291 (ARHGAP31)
 著者        Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC
 タイトル      Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
 雑誌        Am J Hum Genet 88:574-85 (2011)
 DOI:10.1016/j.ajhg.2011.04.013
 PMID:21820096 (DOCK6)
 著者        Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS
 タイトル      Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 89:328-33 (2011)
 DOI:10.1016/j.ajhg.2011.07.009
 PMID:22883147 (RBPJ)
 著者        Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM
 タイトル      RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 91:391-5 (2012)
 DOI:10.1016/j.ajhg.2012.07.005
 PMID:23522784 (EOGT)
 著者        Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-Gonzalez AM, Abdel-Salam G, Temtamy S, Alkuraya FS
 タイトル      Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 92:598-604 (2013)
 DOI:10.1016/j.ajhg.2013.02.012
 PMID:25132448 (NOTCH1)
 著者        Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS
 タイトル      Mutations in NOTCH1 cause Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 95:275-84 (2014)
 DOI:10.1016/j.ajhg.2014.07.011
 PMID:26299364 (DLL4)
 著者        Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W
 タイトル      Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
 雑誌        Am J Hum Genet 97:475-82 (2015)
 DOI:10.1016/j.ajhg.2015.07.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01413"">H01413</a>",アダムズ・オリバー症候群,"Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal recessive AOS.",,"(AOS1) ARHGAP31 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57514"">57514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20646"">K20646</a>]
 (AOS2) DOCK6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57572"">57572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21852"">K21852</a>]
 (AOS3) RBPJ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3516"">3516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06053"">K06053</a>]
 (AOS4) EOGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285203"">285203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18134"">K18134</a>]
 (AOS5) NOTCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4851"">4851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02599"">K02599</a>]
 (AOS6) DLL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54567"">54567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06051"">K06051</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538225"">C538225</a>
 OMIM: <a href=""https://www.omim.org/entry/100300"">100300</a> <a href=""https://www.omim.org/entry/614219"">614219</a> <a href=""https://www.omim.org/entry/614814"">614814</a> <a href=""https://www.omim.org/entry/615297"">615297</a> <a href=""https://www.omim.org/entry/616028"">616028</a> <a href=""https://www.omim.org/entry/616589"">616589</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22307742"">22307742</a>
 著者        Silva G, Braga A, Leitao B, Mesquita A, Reis A, Duarte C, Barbot J, Silva ES
 タイトル      Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?
 雑誌        Am J Med Genet A 158A:648-51 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34435"">10.1002/ajmg.a.34435</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21565291"">21565291</a> (ARHGAP31)
 著者        Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC
 タイトル      Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
 雑誌        Am J Hum Genet 88:574-85 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.013"">10.1016/j.ajhg.2011.04.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820096"">21820096</a> (DOCK6)
 著者        Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS
 タイトル      Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 89:328-33 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.009"">10.1016/j.ajhg.2011.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22883147"">22883147</a> (RBPJ)
 著者        Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM
 タイトル      RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 91:391-5 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.005"">10.1016/j.ajhg.2012.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23522784"">23522784</a> (EOGT)
 著者        Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-Gonzalez AM, Abdel-Salam G, Temtamy S, Alkuraya FS
 タイトル      Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 92:598-604 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.02.012"">10.1016/j.ajhg.2013.02.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25132448"">25132448</a> (NOTCH1)
 著者        Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS
 タイトル      Mutations in NOTCH1 cause Adams-Oliver syndrome.
 雑誌        Am J Hum Genet 95:275-84 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.011"">10.1016/j.ajhg.2014.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26299364"">26299364</a> (DLL4)
 著者        Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W
 タイトル      Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
 雑誌        Am J Hum Genet 97:475-82 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.015"">10.1016/j.ajhg.2015.07.015</a>"
H01414,Hafnia alvei 感染,,,"The genus Hafnia, a member of the family Enterobacteriaceae, is occasionally implicated in both intestinal and extraintestinal infections in humans. Hafnia alvei is a facultative anaerobic opportunistic pathogen that is also known to play a role in microbial food spoilage. This species has been isolated from a wide range of nosocomial infections, including septicaemia, as well as respiratory, enteric, and urinary tract infections.",感染症,,,Hafnia alvei [GN:hav],,,,,"ICD-10: A41
 MeSH: D018805 D004756","PMID:25075225
 著者        Tan JY, Yin WF, Chan KG
 タイトル      Gene clusters of Hafnia alvei strain FB1 important in survival and pathogenesis: a draft genome perspective.
 雑誌        Gut Pathog 6:29 (2014)
 DOI:10.1186/1757-4749-6-29
 PMID:16418520
 著者        Janda JM, Abbott SL
 タイトル      The genus Hafnia: from soup to nuts.
 雑誌        Clin Microbiol Rev 19:12-8 (2006)
 DOI:10.1128/CMR.19.1.12-28.2006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01414"">H01414</a>",Hafnia alvei 感染,"The genus Hafnia, a member of the family Enterobacteriaceae, is occasionally implicated in both intestinal and extraintestinal infections in humans. Hafnia alvei is a facultative anaerobic opportunistic pathogen that is also known to play a role in microbial food spoilage. This species has been isolated from a wide range of nosocomial infections, including septicaemia, as well as respiratory, enteric, and urinary tract infections.",,,"Hafnia alvei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hav"">hav</a>]",,,,,"ICD-10: A41
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018805"">D018805</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004756"">D004756</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25075225"">25075225</a>
 著者        Tan JY, Yin WF, Chan KG
 タイトル      Gene clusters of Hafnia alvei strain FB1 important in survival and pathogenesis: a draft genome perspective.
 雑誌        Gut Pathog 6:29 (2014)
 DOI:<a href=""https://doi.org/10.1186/1757-4749-6-29"">10.1186/1757-4749-6-29</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16418520"">16418520</a>
 著者        Janda JM, Abbott SL
 タイトル      The genus Hafnia: from soup to nuts.
 雑誌        Clin Microbiol Rev 19:12-8 (2006)
 DOI:<a href=""https://doi.org/10.1128/CMR.19.1.12-28.2006"">10.1128/CMR.19.1.12-28.2006</a>"
H01415,"ドノヴァン症;
 鼠径部肉芽腫",,,"Donovanosis (granuloma inguinale) is an acquired chronic, slowly progressive, mildly contagious disease caused by Klebsiella granulomatis that was called Calymmatobacterium granulomatis. This sexually transmitted disease is characterized by granulomatous ulceration of the genitalia and neighboring sites, with little or no tendency to spontaneous healing.",感染症,,,Klebsiella granulomatis,,,,,"ICD-11: 1A91
 ICD-10: A58
 MeSH: D006100
 MedlinePlus: 000636","PMID:12473810
 著者        O'Farrell N
 タイトル      Donovanosis.
 雑誌        Sex Transm Infect 78:452-7 (2002)
 DOI:10.1136/sti.78.6.392-a
 PMID:24958990
 著者        Pilani A, Vora R, Anjaneyan G
 タイトル      Granuloma inguinale mimicking as squamous cell carcinoma of penis.
 雑誌        Indian J Sex Transm Dis 35:56-8 (2014)
 DOI:10.4103/0253-7184.132433","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01415"">H01415</a>","ドノヴァン症;
 鼠径部肉芽腫","Donovanosis (granuloma inguinale) is an acquired chronic, slowly progressive, mildly contagious disease caused by Klebsiella granulomatis that was called Calymmatobacterium granulomatis. This sexually transmitted disease is characterized by granulomatous ulceration of the genitalia and neighboring sites, with little or no tendency to spontaneous healing.",,,Klebsiella granulomatis,,,,,"ICD-11: 1A91
 ICD-10: A58
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006100"">D006100</a>
 MedlinePlus: 000636","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12473810"">12473810</a>
 著者        O'Farrell N
 タイトル      Donovanosis.
 雑誌        Sex Transm Infect 78:452-7 (2002)
 DOI:<a href=""https://doi.org/10.1136/sti.78.6.392-a"">10.1136/sti.78.6.392-a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24958990"">24958990</a>
 著者        Pilani A, Vora R, Anjaneyan G
 タイトル      Granuloma inguinale mimicking as squamous cell carcinoma of penis.
 雑誌        Indian J Sex Transm Dis 35:56-8 (2014)
 DOI:<a href=""https://doi.org/10.4103/0253-7184.132433"">10.4103/0253-7184.132433</a>"
H01416,"重症熱性血小板減少症候群
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Severe fever with thrombocytopenia syndrome (SFTS) is a life-threatening infectious disease caused by SFTS virus (SFTSV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ticks. SFTSV was first isolated in 2009 in China.",感染症,,,SFTS virus HB29 [GN:T40096],,,,,"ICD-11: 1D4E
 ICD-10: A93.8","PMID:24837566
 著者        Liu Q, He B, Huang SY, Wei F, Zhu XQ
 タイトル      Severe fever with thrombocytopenia syndrome, an emerging tick-borne zoonosis.
 雑誌        Lancet Infect Dis 14:763-72 (2014)
 DOI:10.1016/S1473-3099(14)70718-2
 PMID:24310908
 著者        Liu S, Chai C, Wang C, Amer S, Lv H, He H, Sun J, Lin J
 タイトル      Systematic review of severe fever with thrombocytopenia syndrome: virology, epidemiology, and clinical characteristics.
 雑誌        Rev Med Virol 24:90-102 (2014)
 DOI:10.1002/rmv.1776","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01416"">H01416</a>","重症熱性血小板減少症候群
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Severe fever with thrombocytopenia syndrome (SFTS) is a life-threatening infectious disease caused by SFTS virus (SFTSV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ticks. SFTSV was first isolated in 2009 in China.",,,"SFTS virus HB29 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40096"">T40096</a>]",,,,,"ICD-11: 1D4E
 ICD-10: A93.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24837566"">24837566</a>
 著者        Liu Q, He B, Huang SY, Wei F, Zhu XQ
 タイトル      Severe fever with thrombocytopenia syndrome, an emerging tick-borne zoonosis.
 雑誌        Lancet Infect Dis 14:763-72 (2014)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(14)70718-2"">10.1016/S1473-3099(14)70718-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24310908"">24310908</a>
 著者        Liu S, Chai C, Wang C, Amer S, Lv H, He H, Sun J, Lin J
 タイトル      Systematic review of severe fever with thrombocytopenia syndrome: virology, epidemiology, and clinical characteristics.
 雑誌        Rev Med Virol 24:90-102 (2014)
 DOI:<a href=""https://doi.org/10.1002/rmv.1776"">10.1002/rmv.1776</a>"
H01417,急性脳炎,,,"Acute encephalitis is a serious form of neurological disease caused by inflammation of the brain parenchyma. It is generally characterized by the acute onset of fever, altered mental status, new onset of focal neurological symptoms, and generalized or focal seizures. It can develop with various etiologies, but viral infection and autoimmune disorders are the most common. Causes of acute viral encephalitis include herpes simplex virus, other herpes viruses, adenoviruses, influenza A.",感染症; 免疫系疾患,,,"Herpesvirus
 Mastadenovirus
 Influenza A virus
 Arboviruse",,,,,ICD-10: G04.9,"PMID:14978145 (description, pathogen)
 著者        Kennedy PG
 タイトル      Viral encephalitis: causes, differential diagnosis, and management.
 雑誌        J Neurol Neurosurg Psychiatry 75 Suppl 1:i10-5 (2004)
 DOI:10.1136/jnnp.2003.034280
 PMID:25540320
 著者        Singh TD, Fugate JE, Rabinstein AA
 タイトル      The spectrum of acute encephalitis: Causes, management, and predictors of outcome.
 雑誌        Neurology 84:359-66 (2015)
 DOI:10.1212/WNL.0000000000001190
 PMID:15804262 (drug)
 著者        Steiner I, Budka H, Chaudhuri A, Koskiniemi M, Sainio K, Salonen O, Kennedy PG
 タイトル      Viral encephalitis: a review of diagnostic methods and guidelines for management.
 雑誌        Eur J Neurol 12:331-43 (2005)
 DOI:10.1111/j.1468-1331.2005.01126.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01417"">H01417</a>",急性脳炎,"Acute encephalitis is a serious form of neurological disease caused by inflammation of the brain parenchyma. It is generally characterized by the acute onset of fever, altered mental status, new onset of focal neurological symptoms, and generalized or focal seizures. It can develop with various etiologies, but viral infection and autoimmune disorders are the most common. Causes of acute viral encephalitis include herpes simplex virus, other herpes viruses, adenoviruses, influenza A.",,,"Herpesvirus
 Mastadenovirus
 Influenza A virus
 Arboviruse",,,,,ICD-10: G04.9,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14978145"">14978145</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Kennedy PG
 タイトル      Viral encephalitis: causes, differential diagnosis, and management.
 雑誌        J Neurol Neurosurg Psychiatry 75 Suppl 1:i10-5 (2004)
 DOI:<a href=""https://doi.org/10.1136/jnnp.2003.034280"">10.1136/jnnp.2003.034280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25540320"">25540320</a>
 著者        Singh TD, Fugate JE, Rabinstein AA
 タイトル      The spectrum of acute encephalitis: Causes, management, and predictors of outcome.
 雑誌        Neurology 84:359-66 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001190"">10.1212/WNL.0000000000001190</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15804262"">15804262</a> (drug)
 著者        Steiner I, Budka H, Chaudhuri A, Koskiniemi M, Sainio K, Salonen O, Kennedy PG
 タイトル      Viral encephalitis: a review of diagnostic methods and guidelines for management.
 雑誌        Eur J Neurol 12:331-43 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1468-1331.2005.01126.x"">10.1111/j.1468-1331.2005.01126.x</a>"
H01418,尖圭コンジローム,,,"Condyloma acuminatum is a sexually transmitted infection (STI) caused by the human papillomavirus (HPV). It is characterized by fleshy papules on the mucosa and skin of the anorectum and genitalia, with genital disease being more prevalent than anorectal disease. Warts tend to be painless, but may be associated with some discomfort or itching.",感染症,,,"Human papillomavirus type 6b [GN:T40097]
 Human papillomavirus type 10 [GN:T40098]
 human papillomavirus type 11",,,"イミキモド [DR:D02500]
 組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:D10192]
 組換え沈降9価ヒトバピローマウイルス様粒子ワクチン [DR:D11863]",,"ICD-11: 1A95
 ICD-10: A63.0
 MeSH: D003218","PMID:24517695
 著者        Richards S
 タイトル      An overview of genital warts.
 雑誌        Nurs Stand 28:46-50 (2014)
 DOI:10.7748/ns2014.02.28.24.46.e8344
 PMID:19820442
 著者        McCutcheon T
 タイトル      Anal condyloma acuminatum.
 雑誌        Gastroenterol Nurs 32:342-9 (2009)
 DOI:10.1097/SGA.0b013e3181b85d4e","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01418"">H01418</a>",尖圭コンジローム,"Condyloma acuminatum is a sexually transmitted infection (STI) caused by the human papillomavirus (HPV). It is characterized by fleshy papules on the mucosa and skin of the anorectum and genitalia, with genital disease being more prevalent than anorectal disease. Warts tend to be painless, but may be associated with some discomfort or itching.",,,"Human papillomavirus type 6b [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40097"">T40097</a>]
 Human papillomavirus type 10 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40098"">T40098</a>]
 human papillomavirus type 11",,,"イミキモド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02500"">D02500</a>]
 組換え沈降4価ヒトパピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10192"">D10192</a>]
 組換え沈降9価ヒトバピローマウイルス様粒子ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11863"">D11863</a>]",,"ICD-11: 1A95
 ICD-10: A63.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003218"">D003218</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24517695"">24517695</a>
 著者        Richards S
 タイトル      An overview of genital warts.
 雑誌        Nurs Stand 28:46-50 (2014)
 DOI:<a href=""https://doi.org/10.7748/ns2014.02.28.24.46.e8344"">10.7748/ns2014.02.28.24.46.e8344</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19820442"">19820442</a>
 著者        McCutcheon T
 タイトル      Anal condyloma acuminatum.
 雑誌        Gastroenterol Nurs 32:342-9 (2009)
 DOI:<a href=""https://doi.org/10.1097/SGA.0b013e3181b85d4e"">10.1097/SGA.0b013e3181b85d4e</a>"
H01419,中東呼吸器症候群,,,"Middle East respiratory syndrome (MERS) is a severe viral illness caused by Middle East respiratory syndrome coronavirus (MERS-CoV), a novel coronavirus that emerged in the Middle East in 2012. Since then, MERS-CoV has caused an ongoing epidemic in the Arabian Peninsula with sporadic cases imported in Europe, North Africa, Southeast Asia, and the United States of America. MERS is often a lower respiratory tract disease associated with fever, cough, breathing difficulties, pneumonia that can progress to acute respiratory distress syndrome, multiorgan failure, and death.",感染症,,,Middle East respiratory syndrome coronavirus [GN:T40090],,,,,"ICD-11: 1D64
 ICD-10: J20.8
 MeSH: D018352","PMID:25457301
 著者        Pavli A, Tsiodras S, Maltezou HC
 タイトル      Middle East respiratory syndrome coronavirus (MERS-CoV): prevention in travelers.
 雑誌        Travel Med Infect Dis 12:602-8 (2014)
 DOI:10.1016/j.tmaid.2014.10.006
 PMID:25656066
 著者        Mackay IM, Arden KE
 タイトル      Middle East respiratory syndrome: An emerging coronavirus infection tracked by the crowd.
 雑誌        Virus Res 202:60-88 (2015)
 DOI:10.1016/j.virusres.2015.01.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01419"">H01419</a>",中東呼吸器症候群,"Middle East respiratory syndrome (MERS) is a severe viral illness caused by Middle East respiratory syndrome coronavirus (MERS-CoV), a novel coronavirus that emerged in the Middle East in 2012. Since then, MERS-CoV has caused an ongoing epidemic in the Arabian Peninsula with sporadic cases imported in Europe, North Africa, Southeast Asia, and the United States of America. MERS is often a lower respiratory tract disease associated with fever, cough, breathing difficulties, pneumonia that can progress to acute respiratory distress syndrome, multiorgan failure, and death.",,,"Middle East respiratory syndrome coronavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40090"">T40090</a>]",,,,,"ICD-11: 1D64
 ICD-10: J20.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018352"">D018352</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25457301"">25457301</a>
 著者        Pavli A, Tsiodras S, Maltezou HC
 タイトル      Middle East respiratory syndrome coronavirus (MERS-CoV): prevention in travelers.
 雑誌        Travel Med Infect Dis 12:602-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.tmaid.2014.10.006"">10.1016/j.tmaid.2014.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25656066"">25656066</a>
 著者        Mackay IM, Arden KE
 タイトル      Middle East respiratory syndrome: An emerging coronavirus infection tracked by the crowd.
 雑誌        Virus Res 202:60-88 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.virusres.2015.01.021"">10.1016/j.virusres.2015.01.021</a>"
H01420,咽頭結膜熱,,,"Pharyngoconjunctival fever (PCF) is a syndrome attributed to human adenovirus B, particularly serotype 3, which causes small outbreaks, mainly among children. The syndrome may occur sporadically and can cause outbreaks in families and other closed populations. The main sources of infection are contaminated waters of swimming pools and water reservoirs. Acute onset of PCF comprises fever, pharyngitis, rhinitis, cervical adenopathies and bulbar and palpebral conjunctivitis with moderate follicular reaction which can last for 3-5 days. PCF associated ocular inflammation begins unilateral and generally becomes bilateral in the course of the disease.",感染症,,,Human mastadenovirus B [GN:T40100],,,,,"ICD-11: 1D84.Y
 ICD-10: B30.2","PMID:24678403
 著者        Ghebremedhin B
 タイトル      Human adenovirus: Viral pathogen with increasing importance.
 雑誌        Eur J Microbiol Immunol (Bp) 4:26-33 (2014)
 DOI:10.1556/EuJMI.4.2014.1.2
 PMID:11280197
 著者        Harley D, Harrower B, Lyon M, Dick A
 タイトル      A primary school outbreak of pharyngoconjunctival fever caused by adenovirus type 3.
 雑誌        Commun Dis Intell 25:9-12 (2001)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01420"">H01420</a>",咽頭結膜熱,"Pharyngoconjunctival fever (PCF) is a syndrome attributed to human adenovirus B, particularly serotype 3, which causes small outbreaks, mainly among children. The syndrome may occur sporadically and can cause outbreaks in families and other closed populations. The main sources of infection are contaminated waters of swimming pools and water reservoirs. Acute onset of PCF comprises fever, pharyngitis, rhinitis, cervical adenopathies and bulbar and palpebral conjunctivitis with moderate follicular reaction which can last for 3-5 days. PCF associated ocular inflammation begins unilateral and generally becomes bilateral in the course of the disease.",,,"Human mastadenovirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40100"">T40100</a>]",,,,,"ICD-11: 1D84.Y
 ICD-10: B30.2","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24678403"">24678403</a>
 著者        Ghebremedhin B
 タイトル      Human adenovirus: Viral pathogen with increasing importance.
 雑誌        Eur J Microbiol Immunol (Bp) 4:26-33 (2014)
 DOI:<a href=""https://doi.org/10.1556/EuJMI.4.2014.1.2"">10.1556/EuJMI.4.2014.1.2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11280197"">11280197</a>
 著者        Harley D, Harrower B, Lyon M, Dick A
 タイトル      A primary school outbreak of pharyngoconjunctival fever caused by adenovirus type 3.
 雑誌        Commun Dis Intell 25:9-12 (2001)"
H01421,"急性出血性結膜炎
 上位グループ    エンテロウイルス感染症 [DS:H00393]",,,"Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses.",感染症,,,"Human enterovirus 70 [GN:T40334]
 Human coxsackievirus A24 [GN:T40332]",,,,,"ICD-11: 1D84.1
 ICD-10: B30.3
 MeSH: D003232","PMID:16287683
 著者        Palacios G, Oberste MS
 タイトル      Enteroviruses as agents of emerging infectious diseases.
 雑誌        J Neurovirol 11:424-33 (2005)
 DOI:10.1080/13550280591002531
 PMID:16704792
 著者        Tavares FN, Costa EV, Oliveira SS, Nicolai CC, Baran M, da Silva EE
 タイトル      Acute hemorrhagic conjunctivitis and coxsackievirus A24v, Rio de Janeiro, Brazil, 2004.
 雑誌        Emerg Infect Dis 12:495-7 (2006)
 DOI:10.3201/eid1205.051173
 PMID:12967504
 著者        Oh MD, Park S, Choi Y, Kim H, Lee K, Park W, Yoo Y, Kim EC, Choe K
 タイトル      Acute hemorrhagic conjunctivitis caused by coxsackievirus A24 variant, South Korea, 2002.
 雑誌        Emerg Infect Dis 9:1010-2 (2003)
 DOI:10.3201/eid0908.030190","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01421"">H01421</a>","急性出血性結膜炎
 上位グループ    エンテロウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>]","Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses.",,,"Human enterovirus 70 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40334"">T40334</a>]
 Human coxsackievirus A24 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40332"">T40332</a>]",,,,,"ICD-11: 1D84.1
 ICD-10: B30.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003232"">D003232</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16287683"">16287683</a>
 著者        Palacios G, Oberste MS
 タイトル      Enteroviruses as agents of emerging infectious diseases.
 雑誌        J Neurovirol 11:424-33 (2005)
 DOI:<a href=""https://doi.org/10.1080/13550280591002531"">10.1080/13550280591002531</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16704792"">16704792</a>
 著者        Tavares FN, Costa EV, Oliveira SS, Nicolai CC, Baran M, da Silva EE
 タイトル      Acute hemorrhagic conjunctivitis and coxsackievirus A24v, Rio de Janeiro, Brazil, 2004.
 雑誌        Emerg Infect Dis 12:495-7 (2006)
 DOI:<a href=""https://doi.org/10.3201/eid1205.051173"">10.3201/eid1205.051173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12967504"">12967504</a>
 著者        Oh MD, Park S, Choi Y, Kim H, Lee K, Park W, Yoo Y, Kim EC, Choe K
 タイトル      Acute hemorrhagic conjunctivitis caused by coxsackievirus A24 variant, South Korea, 2002.
 雑誌        Emerg Infect Dis 9:1010-2 (2003)
 DOI:<a href=""https://doi.org/10.3201/eid0908.030190"">10.3201/eid0908.030190</a>"
H01422,"カルバペネム耐性菌感染症
 下位グループ    カルバペネム耐性腸内細菌科細菌感染症
 カルバペネム耐性緑膿菌感染症
 カルバペネム耐性アシネトバクター感染症",,,"Carbapenems [DG:DG01458] are a class of beta-lactam antibiotics often used as the last resort treatment for severe bacterial infections. Thus, the appearance of carbapenem resistance caused by acquisition of carbapenem-hydrolyzing beta-lactamases (carbapenemases), especially among Enterobacteriaceae, Pseudomonas and Acinetobacter, is considered as a global health threat.",感染症,,,"Enterobacteriaceae
 Pseudomonas
 Acinetobacter
 モジュール     M00851  Carbapenem resistance",,,レレバクタム水和物・イミペネム水和物・シラスタチンナトリウム [DR:D11621],,"ICD-11: MG50.02 MG50.24 MG50.92 MG50.A0 MG50.C0
 ICD-10: U82.8","PMID:24360201
 著者        Nordmann P
 タイトル      Carbapenemase-producing Enterobacteriaceae: overview of a major public health challenge.
 雑誌        Med Mal Infect 44:51-6 (2014)
 DOI:10.1016/j.medmal.2013.11.007
 PMID:21859938
 著者        Papp-Wallace KM, Endimiani A, Taracila MA, Bonomo RA
 タイトル      Carbapenems: past, present, and future.
 雑誌        Antimicrob Agents Chemother 55:4943-60 (2011)
 DOI:10.1128/AAC.00296-11","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01422"">H01422</a>","カルバペネム耐性菌感染症
 下位グループ    カルバペネム耐性腸内細菌科細菌感染症
 カルバペネム耐性緑膿菌感染症
 カルバペネム耐性アシネトバクター感染症","Carbapenems [DG:DG01458] are a class of beta-lactam antibiotics often used as the last resort treatment for severe bacterial infections. Thus, the appearance of carbapenem resistance caused by acquisition of carbapenem-hydrolyzing beta-lactamases (carbapenemases), especially among Enterobacteriaceae, Pseudomonas and Acinetobacter, is considered as a global health threat.",,,"Enterobacteriaceae
 Pseudomonas
 Acinetobacter
 モジュール     M00851  Carbapenem resistance",,,"レレバクタム水和物・イミペネム水和物・シラスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11621"">D11621</a>]",,"ICD-11: MG50.02 MG50.24 MG50.92 MG50.A0 MG50.C0
 ICD-10: U82.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24360201"">24360201</a>
 著者        Nordmann P
 タイトル      Carbapenemase-producing Enterobacteriaceae: overview of a major public health challenge.
 雑誌        Med Mal Infect 44:51-6 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.medmal.2013.11.007"">10.1016/j.medmal.2013.11.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21859938"">21859938</a>
 著者        Papp-Wallace KM, Endimiani A, Taracila MA, Bonomo RA
 タイトル      Carbapenems: past, present, and future.
 雑誌        Antimicrob Agents Chemother 55:4943-60 (2011)
 DOI:<a href=""https://doi.org/10.1128/AAC.00296-11"">10.1128/AAC.00296-11</a>"
H01423,ペニシリン耐性肺炎球菌感染症,,,"Streptococcus pneumoniae is a common causative pathogen in community-acquired respiratory tract infections (RTIs), including acute otitis media, acute bacterial exacerbations of chronic bronchitis, acute bacterial sinusitis, and community-acquired pneumonia. It is also a major cause of bacteremia. Pneumococcal antibiotic resistance towards different families of antibiotics, in particular, penicillin and the macrocodes, continues to be a much-debated issue. The main mechanism of resistance in clinical isolates of S. pneumoniae involves the alteration of penicillin target proteins, the so-called penicillin binding protein (PBPs), which cause reduced affinities and/or binding capacities for the antibiotic molecule.",感染症,,,Streptococcus pneumoniae [GN:spw snd spnn sne],,,"トスフロキサシントシル酸塩水和物 [DR:D01996]
 バンコマイシン塩酸塩 [DR:D00926]
 テビペネムピボキシル [DR:D09598]","S. pneumoniae genes containing mutations:
 pbp1A [SPW:SPCG_0365] [KO:K05366]
 pbp2X [SPW:SPCG_0339] [KO:K12556]
 pbp2B [SPW:SPCG_1645] [KO:K00687]","ICD-11: MG51.10
 ICD-10: J13
 MeSH: D013290","PMID:18201146 (description, comment)
 著者        Aspa J, Rajas O, de Castro FR
 タイトル      Pneumococcal antimicrobial resistance: therapeutic strategy and management in community-acquired pneumonia.
 雑誌        Expert Opin Pharmacother 9:229-41 (2008)
 DOI:10.1517/14656566.9.2.229
 PMID:18190701
 著者        Jenkins SG, Brown SD, Farrell DJ
 タイトル      Trends in antibacterial resistance among Streptococcus pneumoniae isolated in the USA: update from PROTEKT US Years 1-4.
 雑誌        Ann Clin Microbiol Antimicrob 7:1 (2008)
 DOI:10.1186/1476-0711-7-1
 PMID:19366363 (pathogen, comment)
 著者        Reinert RR
 タイトル      The antimicrobial resistance profile of Streptococcus pneumoniae.
 雑誌        Clin Microbiol Infect 15 Suppl 3:7-11 (2009)
 DOI:10.1111/j.1469-0691.2009.02724.x
 PMID:19114491 (pathogen)
 著者        Croucher NJ, Walker D, Romero P, Lennard N, Paterson GK, Bason NC, Mitchell AM, Quail MA, Andrew PW, Parkhill J, Bentley SD, Mitchell TJ
 タイトル      Role of conjugative elements in the evolution of the multidrug-resistant pandemic clone Streptococcus pneumoniaeSpain23F ST81.
 雑誌        J Bacteriol 191:1480-9 (2009)
 DOI:10.1128/JB.01343-08
 PMID:22134942 (drug)
 著者        Rivera AM, Boucher HW
 タイトル      Current concepts in antimicrobial therapy against select gram-positive organisms: methicillin-resistant Staphylococcus aureus, penicillin-resistant pneumococci, and vancomycin-resistant enterococci.
 雑誌        Mayo Clin Proc 86:1230-43 (2011)
 DOI:10.4065/mcp.2011.0514
 PMID:21308542 (drug)
 著者        Hameed N, Tunkel AR
 タイトル      Treatment of Drug-resistant Pneumococcal Meningitis.
 雑誌        Curr Infect Dis Rep 12:274-81 (2010)
 DOI:10.1007/s11908-010-0110-7
 PMID:16524418 (drug)
 著者        Faella F, Pagliano P, Fusco U, Attanasio V, Conte M
 タイトル      Combined treatment with ceftriaxone and linezolid of pneumococcal meningitis: a case series including penicillin-resistant strains.
 雑誌        Clin Microbiol Infect 12:391-4 (2006)
 DOI:10.1111/j.1469-0691.2006.01352.x
 PMID:19233207 (comment)
 著者        Contreras-Martel C, Dahout-Gonzalez C, Martins Ados S, Kotnik M, Dessen A
 タイトル      PBP active site flexibility as the key mechanism for beta-lactam resistance in pneumococci.
 雑誌        J Mol Biol 387:899-909 (2009)
 DOI:10.1016/j.jmb.2009.02.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01423"">H01423</a>",ペニシリン耐性肺炎球菌感染症,"Streptococcus pneumoniae is a common causative pathogen in community-acquired respiratory tract infections (RTIs), including acute otitis media, acute bacterial exacerbations of chronic bronchitis, acute bacterial sinusitis, and community-acquired pneumonia. It is also a major cause of bacteremia. Pneumococcal antibiotic resistance towards different families of antibiotics, in particular, penicillin and the macrocodes, continues to be a much-debated issue. The main mechanism of resistance in clinical isolates of S. pneumoniae involves the alteration of penicillin target proteins, the so-called penicillin binding protein (PBPs), which cause reduced affinities and/or binding capacities for the antibiotic molecule.",,,"Streptococcus pneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spw"">spw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:snd"">snd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spnn"">spnn</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sne"">sne</a>]",,,"トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]
 テビペネムピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09598"">D09598</a>]","S. pneumoniae genes containing mutations:
 pbp1A [SPW:SPCG_0365] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05366"">K05366</a>]
 pbp2X [SPW:SPCG_0339] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12556"">K12556</a>]
 pbp2B [SPW:SPCG_1645] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00687"">K00687</a>]","ICD-11: MG51.10
 ICD-10: J13
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013290"">D013290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18201146"">18201146</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Aspa J, Rajas O, de Castro FR
 タイトル      Pneumococcal antimicrobial resistance: therapeutic strategy and management in community-acquired pneumonia.
 雑誌        Expert Opin Pharmacother 9:229-41 (2008)
 DOI:<a href=""https://doi.org/10.1517/14656566.9.2.229"">10.1517/14656566.9.2.229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18190701"">18190701</a>
 著者        Jenkins SG, Brown SD, Farrell DJ
 タイトル      Trends in antibacterial resistance among Streptococcus pneumoniae isolated in the USA: update from PROTEKT US Years 1-4.
 雑誌        Ann Clin Microbiol Antimicrob 7:1 (2008)
 DOI:<a href=""https://doi.org/10.1186/1476-0711-7-1"">10.1186/1476-0711-7-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19366363"">19366363</a> (pathogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/comment)"">comment)</a>
 著者        Reinert RR
 タイトル      The antimicrobial resistance profile of Streptococcus pneumoniae.
 雑誌        Clin Microbiol Infect 15 Suppl 3:7-11 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2009.02724.x"">10.1111/j.1469-0691.2009.02724.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19114491"">19114491</a> (pathogen)
 著者        Croucher NJ, Walker D, Romero P, Lennard N, Paterson GK, Bason NC, Mitchell AM, Quail MA, Andrew PW, Parkhill J, Bentley SD, Mitchell TJ
 タイトル      Role of conjugative elements in the evolution of the multidrug-resistant pandemic clone Streptococcus pneumoniaeSpain23F ST81.
 雑誌        J Bacteriol 191:1480-9 (2009)
 DOI:<a href=""https://doi.org/10.1128/JB.01343-08"">10.1128/JB.01343-08</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22134942"">22134942</a> (drug)
 著者        Rivera AM, Boucher HW
 タイトル      Current concepts in antimicrobial therapy against select gram-positive organisms: methicillin-resistant Staphylococcus aureus, penicillin-resistant pneumococci, and vancomycin-resistant enterococci.
 雑誌        Mayo Clin Proc 86:1230-43 (2011)
 DOI:<a href=""https://doi.org/10.4065/mcp.2011.0514"">10.4065/mcp.2011.0514</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21308542"">21308542</a> (drug)
 著者        Hameed N, Tunkel AR
 タイトル      Treatment of Drug-resistant Pneumococcal Meningitis.
 雑誌        Curr Infect Dis Rep 12:274-81 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11908-010-0110-7"">10.1007/s11908-010-0110-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16524418"">16524418</a> (drug)
 著者        Faella F, Pagliano P, Fusco U, Attanasio V, Conte M
 タイトル      Combined treatment with ceftriaxone and linezolid of pneumococcal meningitis: a case series including penicillin-resistant strains.
 雑誌        Clin Microbiol Infect 12:391-4 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2006.01352.x"">10.1111/j.1469-0691.2006.01352.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19233207"">19233207</a> (comment)
 著者        Contreras-Martel C, Dahout-Gonzalez C, Martins Ados S, Kotnik M, Dessen A
 タイトル      PBP active site flexibility as the key mechanism for beta-lactam resistance in pneumococci.
 雑誌        J Mol Biol 387:899-909 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jmb.2009.02.024"">10.1016/j.jmb.2009.02.024</a>"
H01424,"A群溶血性レンサ球菌咽頭炎
 上位グループ    レンサ球菌感染症 [DS:H00333]",,,"Group A streptococcal pharyngitis is an acute infection of the oropharynx and/or nasopharynx that is caused by group A streptococcus (Streptococcus pyogenes). Group A streptococcus is responsible for 5-15% of cases of pharyngitis in adults and 20-30% of cases in children, and is the most common cause of bacterial pharyngitis. The disorder is primarily a disease of children between 5 and 15 years of age, and, in temperate climates, it usually occurs in the winter and early spring. The onset of symptoms in patients is often abrupt. In addition to throat pain, symptoms may include fever, chills, malaise, headache, and particularly in younger children abdominal pain, nausea, and vomiting. Cough, coryza, and conjunctivitis are not typical symptoms of streptococcal pharyngitis, and, if present, they suggest an alternative cause such as a viral infection. In most persons, fever resolves within 3-5 days, and throat pain resolves within 1 week, even without specific treatment. Antibiotic treatment reduces the risk of subsequent development of acute rheumatic fever and suppurative complications.",感染症,,,Streptococcus pyogenes [GN:sph spi spj spa spb],,,,,"ICD-11: 1B51
 ICD-10: J02.0","PMID:12087516
 著者        Bisno AL, Gerber MA, Gwaltney JM Jr, Kaplan EL, Schwartz RH
 タイトル      Practice guidelines for the diagnosis and management of group A streptococcal pharyngitis. Infectious Diseases Society of America.
 雑誌        Clin Infect Dis 35:113-25 (2002)
 DOI:10.1086/340949
 PMID:21323542 (description, drug)
 著者        Wessels MR
 タイトル      Clinical practice. Streptococcal pharyngitis.
 雑誌        N Engl J Med 364:648-55 (2011)
 DOI:10.1056/NEJMcp1009126","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01424"">H01424</a>","A群溶血性レンサ球菌咽頭炎
 上位グループ    レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>]","Group A streptococcal pharyngitis is an acute infection of the oropharynx and/or nasopharynx that is caused by group A streptococcus (Streptococcus pyogenes). Group A streptococcus is responsible for 5-15% of cases of pharyngitis in adults and 20-30% of cases in children, and is the most common cause of bacterial pharyngitis. The disorder is primarily a disease of children between 5 and 15 years of age, and, in temperate climates, it usually occurs in the winter and early spring. The onset of symptoms in patients is often abrupt. In addition to throat pain, symptoms may include fever, chills, malaise, headache, and particularly in younger children abdominal pain, nausea, and vomiting. Cough, coryza, and conjunctivitis are not typical symptoms of streptococcal pharyngitis, and, if present, they suggest an alternative cause such as a viral infection. In most persons, fever resolves within 3-5 days, and throat pain resolves within 1 week, even without specific treatment. Antibiotic treatment reduces the risk of subsequent development of acute rheumatic fever and suppurative complications.",,,"Streptococcus pyogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sph"">sph</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spi"">spi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spj"">spj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spa"">spa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spb"">spb</a>]",,,,,"ICD-11: 1B51
 ICD-10: J02.0","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12087516"">12087516</a>
 著者        Bisno AL, Gerber MA, Gwaltney JM Jr, Kaplan EL, Schwartz RH
 タイトル      Practice guidelines for the diagnosis and management of group A streptococcal pharyngitis. Infectious Diseases Society of America.
 雑誌        Clin Infect Dis 35:113-25 (2002)
 DOI:<a href=""https://doi.org/10.1086/340949"">10.1086/340949</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21323542"">21323542</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Wessels MR
 タイトル      Clinical practice. Streptococcal pharyngitis.
 雑誌        N Engl J Med 364:648-55 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp1009126"">10.1056/NEJMcp1009126</a>"
H01425,"ライソゾーム病 (リソソーム蓄積症)
 下位グループ    ムコ多糖症 [DS:H00421]
 糖タンパク分解反応異常症 [DS:H00422]
 スフィンゴリピドーシス [DS:H00423]
 ポンペ病 [DS:H01940]
 プロサポシン欠損症 [DS:H01239]
 ウォールマン病 [DS:H00148]
 神経セロイドリポフスチン症 [DS:H00149]
 リソソーム-システインプロテアーゼ異常症 [DS:H00425]
 酸性ホスファターゼ欠損症 [DS:H01113]
 シスチン症 [DS:H00275]
 シアル酸尿症 [DS:H00147]
 ダノン病 [DS:H00150]
 リソソーム輸送障害 [DS:H02128]",,,"Lysosomal storage diseases (LSDs) are a group of inherited diseases that are characterised by the intracellular accumulation of incompletely degraded macromolecules. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Most of the patients with a LSD are born apparently healthy and the symptoms develop progressively. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective.
 LSDs are divided into the following 5 groups. For details, please refer to the each entry.
 1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses, Defects in the degradation of sulfatide, Defects in the degradation of ganglioside, Pompe disease, Prosaposin deficiency
 2. Defects in lipid degradation: Defects in the degradation of sphingomyelin, Wolman disease
 3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency
 4. Defects in lysosomal transporters: Cystinosis, Sialuria, Danon disease
 5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome",先天性代謝異常症,,,,,,,,"ICD-11: 5C56
 ICD-10: E70 E72 E74 E75 E76 E77 E83 Q82
 MeSH: D016464","PMID:18708002
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:10.1016/j.spen.2008.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>","ライソゾーム病 (リソソーム蓄積症)
 下位グループ    ムコ多糖症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00421"">H00421</a>]
 糖タンパク分解反応異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00422"">H00422</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ポンペ病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01940"">H01940</a>]
 プロサポシン欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01239"">H01239</a>]
 ウォールマン病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00148"">H00148</a>]
 神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 リソソーム-システインプロテアーゼ異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00425"">H00425</a>]
 酸性ホスファターゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01113"">H01113</a>]
 シスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00275"">H00275</a>]
 シアル酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00147"">H00147</a>]
 ダノン病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00150"">H00150</a>]
 リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]","Lysosomal storage diseases (LSDs) are a group of inherited diseases that are characterised by the intracellular accumulation of incompletely degraded macromolecules. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Most of the patients with a LSD are born apparently healthy and the symptoms develop progressively. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective.
 LSDs are divided into the following 5 groups. For details, please refer to the each entry.
 1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses, Defects in the degradation of sulfatide, Defects in the degradation of ganglioside, Pompe disease, Prosaposin deficiency
 2. Defects in lipid degradation: Defects in the degradation of sphingomyelin, Wolman disease
 3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency
 4. Defects in lysosomal transporters: Cystinosis, Sialuria, Danon disease
 5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome",,,,,,,,"ICD-11: 5C56
 ICD-10: E70 E72 E74 E75 E76 E77 E83 Q82
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016464"">D016464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708002"">18708002</a>
 著者        Heese BA
 タイトル      Current strategies in the management of lysosomal storage diseases.
 雑誌        Semin Pediatr Neurol 15:119-26 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.005"">10.1016/j.spen.2008.05.005</a>"
H01426,"劇症型溶血性レンサ球菌感染症
 上位グループ    レンサ球菌感染症 [DS:H00333]",,,"Invasive streptococcal disease is defined as an infection associated with group A Streptococcus pyogenes. Since the mid-1980s, there have been reports from around the world of an increase in the incidence, and associated morbidity and mortality. One of clinical presentations is group A streptococcal toxic shock syndrome, which is differentiated from other types of this disease by the occurrence of shock and multi-organ system failure early in the course of the infection. Another is necrotising fasciitis, characterized by extensive local necrosis of subcutaneous soft tissues and skin and the isolation of S. pyogenes from a normally sterile body site. The other is a group of infections characterized by the isolation of S. pyogenes from a normally sterile site in patients not meeting the criteria for streptococcal toxic shock syndrome or necrotising fasciitis. Recently, cases associated with group B, C and G Streptococcus have been reported but less frequent.",感染症,,,"Streptococcus pyogenes [GN:spy spz spym spg sps spa spb stg spyo]
 Streptococcus agalactiae [GN:sag san sak sagt sagn]
 Streptococcus equi [GN:sez]
 Streptococcus dysgalactiae [GN:sdg sda sdq]",,,,Streptococcal infection is described in H00333.,"ICD-10: A40 A49.1
 MeSH: D013290","PMID:16048718
 著者        Smith A, Lamagni TL, Oliver I, Efstratiou A, George RC, Stuart JM
 タイトル      Invasive group A streptococcal disease: should close contacts routinely receive antibiotic prophylaxis?
 雑誌        Lancet Infect Dis 5:494-500 (2005)
 DOI:10.1016/S1473-3099(05)70190-0
 PMID:20212993
 タイトル      Invasive group A streptococcal infections.
 雑誌        Paediatr Child Health 4:73-82 (1999)
 DOI:10.1093/pch/4.1.73
 PMID:20456456
 著者        Kittang BR, Bruun T, Langeland N, Mylvaganam H, Glambek M, Skrede S
 タイトル      Invasive group A, C and G streptococcal disease in western Norway: virulence gene profiles, clinical features and outcomes.
 雑誌        Clin Microbiol Infect 17:358-64 (2011)
 DOI:10.1111/j.1469-0691.2010.03253.x
 PMID:11345977 (drug)
 タイトル      American Academy of Pediatrics. Committee on Infectious Diseases. Severe invasive group A streptococcal infections: a subject review.
 雑誌        Pediatrics 101:136-40 (1998)
 DOI:10.1542/peds.101.1.136
 PMID:21422882 (drug)
 タイトル      ACOG Committee Opinion No. 485: Prevention of early-onset group B streptococcal disease in newborns.
 雑誌        Obstet Gynecol 117:1019-27 (2011)
 DOI:10.1097/AOG.0b013e318219229b","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01426"">H01426</a>","劇症型溶血性レンサ球菌感染症
 上位グループ    レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>]","Invasive streptococcal disease is defined as an infection associated with group A Streptococcus pyogenes. Since the mid-1980s, there have been reports from around the world of an increase in the incidence, and associated morbidity and mortality. One of clinical presentations is group A streptococcal toxic shock syndrome, which is differentiated from other types of this disease by the occurrence of shock and multi-organ system failure early in the course of the infection. Another is necrotising fasciitis, characterized by extensive local necrosis of subcutaneous soft tissues and skin and the isolation of S. pyogenes from a normally sterile body site. The other is a group of infections characterized by the isolation of S. pyogenes from a normally sterile site in patients not meeting the criteria for streptococcal toxic shock syndrome or necrotising fasciitis. Recently, cases associated with group B, C and G Streptococcus have been reported but less frequent.",,,"Streptococcus pyogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spy"">spy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spz"">spz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spym"">spym</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spg"">spg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sps"">sps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spa"">spa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spb"">spb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stg"">stg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spyo"">spyo</a>]
 Streptococcus agalactiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sag"">sag</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:san"">san</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sak"">sak</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sagt"">sagt</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sagn"">sagn</a>]
 Streptococcus equi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sez"">sez</a>]
 Streptococcus dysgalactiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sdg"">sdg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sda"">sda</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sdq"">sdq</a>]",,,,"Streptococcal infection is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00333."">H00333.</a>","ICD-10: A40 A49.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013290"">D013290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16048718"">16048718</a>
 著者        Smith A, Lamagni TL, Oliver I, Efstratiou A, George RC, Stuart JM
 タイトル      Invasive group A streptococcal disease: should close contacts routinely receive antibiotic prophylaxis?
 雑誌        Lancet Infect Dis 5:494-500 (2005)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(05)70190-0"">10.1016/S1473-3099(05)70190-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20212993"">20212993</a>
 タイトル      Invasive group A streptococcal infections.
 雑誌        Paediatr Child Health 4:73-82 (1999)
 DOI:<a href=""https://doi.org/10.1093/pch/4.1.73"">10.1093/pch/4.1.73</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20456456"">20456456</a>
 著者        Kittang BR, Bruun T, Langeland N, Mylvaganam H, Glambek M, Skrede S
 タイトル      Invasive group A, C and G streptococcal disease in western Norway: virulence gene profiles, clinical features and outcomes.
 雑誌        Clin Microbiol Infect 17:358-64 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1469-0691.2010.03253.x"">10.1111/j.1469-0691.2010.03253.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11345977"">11345977</a> (drug)
 タイトル      American Academy of Pediatrics. Committee on Infectious Diseases. Severe invasive group A streptococcal infections: a subject review.
 雑誌        Pediatrics 101:136-40 (1998)
 DOI:<a href=""https://doi.org/10.1542/peds.101.1.136"">10.1542/peds.101.1.136</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21422882"">21422882</a> (drug)
 タイトル      ACOG Committee Opinion No. 485: Prevention of early-onset group B streptococcal disease in newborns.
 雑誌        Obstet Gynecol 117:1019-27 (2011)
 DOI:<a href=""https://doi.org/10.1097/AOG.0b013e318219229b"">10.1097/AOG.0b013e318219229b</a>"
H01427,"ミトコンドリア病
 下位グループ    ミトコンドリア複合体 I 欠損症 [DS:H00473]
 ミトコンドリア複合体 II 欠損症 [DS:H02005]
 ミトコンドリア複合体 III 欠損症 [DS:H02086]
 チトクロムc 酸化酵素欠損症 [DS:H01368]
 複合型酸化的リン酸化異常 [DS:H00891]
 ATP合成酵素欠損症 [DS:H01369]
 ミトコンドリア DNA 枯渇症候群 [DS:H00469]
 MLASA [DS:H00898]
 MELAS syndrome [DS:H01347]
 Leigh syndrome [DS:H01354]
 カーンズ・セイアー症候群 [DS:H01355]
 レーバー遺伝性視神経症 [DS:H00068]
 LDYT [DS:H01365]
 ミトコンドリアリン酸輸送体欠損症 [DS:H01348]
 進行性外眼筋麻痺 [DS:H01118]
 MERRF 症候群 [DS:H01356]
 GRACILE 症候群 [DS:H02007]
 小児肝不全 [DS:H01367]
 MIRAS [DS:H01384]
 多発性ミトコンドリア機能障害症候群 [DS:H01894]
 TCA回路の異常 [DS:H01022]
 ミトコンドリア脂肪酸酸化異常症 [DS:H00525]
 Mohr-Tranebjaerg 症候群 [DS:H00989]
 Bjornstad 症候群 [DS:H00820]",,,"Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.",先天性代謝異常症,,,,,,,"For details, please refer to each entry. See also H00473 Mitochondrial respiratory chain deficiencies.","ICD-11: 5C53
 ICD-10: E88
 MeSH: D028361","PMID:20301403
 著者        Chinnery PF
 タイトル      Mitochondrial Disorders Overview
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>","ミトコンドリア病
 下位グループ    ミトコンドリア複合体 I 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00473"">H00473</a>]
 ミトコンドリア複合体 II 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02005"">H02005</a>]
 ミトコンドリア複合体 III 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02086"">H02086</a>]
 チトクロムc 酸化酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01368"">H01368</a>]
 複合型酸化的リン酸化異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00891"">H00891</a>]
 ATP合成酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01369"">H01369</a>]
 ミトコンドリア DNA 枯渇症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00469"">H00469</a>]
 MLASA [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00898"">H00898</a>]
 MELAS syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01347"">H01347</a>]
 Leigh syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01354"">H01354</a>]
 カーンズ・セイアー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01355"">H01355</a>]
 レーバー遺伝性視神経症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00068"">H00068</a>]
 LDYT [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01365"">H01365</a>]
 ミトコンドリアリン酸輸送体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01348"">H01348</a>]
 進行性外眼筋麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01118"">H01118</a>]
 MERRF 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01356"">H01356</a>]
 GRACILE 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02007"">H02007</a>]
 小児肝不全 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01367"">H01367</a>]
 MIRAS [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01384"">H01384</a>]
 多発性ミトコンドリア機能障害症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01894"">H01894</a>]
 TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 Mohr-Tranebjaerg 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00989"">H00989</a>]
 Bjornstad 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00820"">H00820</a>]","Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.",,,,,,,"For details, please refer to each entry. See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00473"">H00473</a> Mitochondrial respiratory chain deficiencies.","ICD-11: 5C53
 ICD-10: E88
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D028361"">D028361</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301403"">20301403</a>
 著者        Chinnery PF
 タイトル      Mitochondrial Disorders Overview
 雑誌        GeneReviews (1993)"
H01428,"色素性乾皮症
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:H00403]",,,"Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).",先天奇形,,"(XPA) XPA [HSA:7507] [KO:K10847]
 (XPB) ERCC3 [HSA:2071] [KO:K10843]
 (XPC) XPC [HSA:7508] [KO:K10838]
 (XPD) ERCC2 [HSA:2068] [KO:K10844]
 (XPE) DDB2 [HSA:1643] [KO:K10140]
 (XPF) ERCC4 [HSA:2072] [KO:K10848]
 (XPG) ERCC5 [HSA:2073] [KO:K10846]
 (XPV) POLH [HSA:5429] [KO:K03509]",,,,,Disorder of DNA repair system,"ICD-11: LD27.1
 ICD-10: Q82.1
 MeSH: D014983
 OMIM: 278700 610651 278720 278730 278740 278760 278780 278750","PMID:19809470
 著者        Cleaver JE, Lam ET, Revet I
 タイトル      Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
 雑誌        Nat Rev Genet 10:756-68 (2009)
 DOI:10.1038/nrg2663
 PMID:2234061 (XPA)
 著者        Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y
 タイトル      Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
 雑誌        Nature 348:73-6 (1990)
 DOI:10.1038/348073a0
 PMID:2167179 (ERCC3)
 著者        Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH
 タイトル      A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
 雑誌        Cell 62:777-91 (1990)
 DOI:10.1016/0092-8674(90)90122-u
 PMID:8298653 (XPC)
 著者        Li L, Bales ES, Peterson CA, Legerski RJ
 タイトル      Characterization of molecular defects in xeroderma pigmentosum group C.
 雑誌        Nat Genet 5:413-7 (1993)
 DOI:10.1038/ng1293-413
 PMID:7849702 (ERCC2)
 著者        Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC
 タイトル      Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
 雑誌        Hum Mol Genet 3:1783-8 (1994)
 DOI:10.1093/hmg/3.10.1783
 PMID:8798680 (DDB2)
 著者        Nichols AF, Ong P, Linn S
 タイトル      Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
 雑誌        J Biol Chem 271:24317-20 (1996)
 DOI:10.1074/jbc.271.40.24317
 PMID:8797827 (ERCC4)
 著者        Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD
 タイトル      Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
 雑誌        Cell 86:811-22 (1996)
 DOI:10.1016/s0092-8674(00)80155-5
 PMID:7951246 (ERCC5)
 著者        Nouspikel T, Clarkson SG
 タイトル      Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
 雑誌        Hum Mol Genet 3:963-7 (1994)
 DOI:10.1093/hmg/3.6.963
 PMID:10385124 (POLH)
 著者        Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F
 タイトル      The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
 雑誌        Nature 399:700-4 (1999)
 DOI:10.1038/21447","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01428"">H01428</a>","色素性乾皮症
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>]","Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).",,"(XPA) XPA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7507"">7507</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10847"">K10847</a>]
 (XPB) ERCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2071"">2071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10843"">K10843</a>]
 (XPC) XPC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7508"">7508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10838"">K10838</a>]
 (XPD) ERCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2068"">2068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10844"">K10844</a>]
 (XPE) DDB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1643"">1643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10140"">K10140</a>]
 (XPF) ERCC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2072"">2072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10848"">K10848</a>]
 (XPG) ERCC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2073"">2073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10846"">K10846</a>]
 (XPV) POLH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5429"">5429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03509"">K03509</a>]",,,,,Disorder of DNA repair system,"ICD-11: LD27.1
 ICD-10: Q82.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014983"">D014983</a>
 OMIM: <a href=""https://www.omim.org/entry/278700"">278700</a> <a href=""https://www.omim.org/entry/610651"">610651</a> <a href=""https://www.omim.org/entry/278720"">278720</a> <a href=""https://www.omim.org/entry/278730"">278730</a> <a href=""https://www.omim.org/entry/278740"">278740</a> <a href=""https://www.omim.org/entry/278760"">278760</a> <a href=""https://www.omim.org/entry/278780"">278780</a> <a href=""https://www.omim.org/entry/278750"">278750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19809470"">19809470</a>
 著者        Cleaver JE, Lam ET, Revet I
 タイトル      Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
 雑誌        Nat Rev Genet 10:756-68 (2009)
 DOI:<a href=""https://doi.org/10.1038/nrg2663"">10.1038/nrg2663</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2234061"">2234061</a> (XPA)
 著者        Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y
 タイトル      Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
 雑誌        Nature 348:73-6 (1990)
 DOI:<a href=""https://doi.org/10.1038/348073a0"">10.1038/348073a0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2167179"">2167179</a> (ERCC3)
 著者        Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH
 タイトル      A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
 雑誌        Cell 62:777-91 (1990)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(90)90122-u"">10.1016/0092-8674(90)90122-u</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8298653"">8298653</a> (XPC)
 著者        Li L, Bales ES, Peterson CA, Legerski RJ
 タイトル      Characterization of molecular defects in xeroderma pigmentosum group C.
 雑誌        Nat Genet 5:413-7 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng1293-413"">10.1038/ng1293-413</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7849702"">7849702</a> (ERCC2)
 著者        Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC
 タイトル      Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
 雑誌        Hum Mol Genet 3:1783-8 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.10.1783"">10.1093/hmg/3.10.1783</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8798680"">8798680</a> (DDB2)
 著者        Nichols AF, Ong P, Linn S
 タイトル      Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
 雑誌        J Biol Chem 271:24317-20 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.40.24317"">10.1074/jbc.271.40.24317</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8797827"">8797827</a> (ERCC4)
 著者        Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD
 タイトル      Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
 雑誌        Cell 86:811-22 (1996)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)80155-5"">10.1016/s0092-8674(00)80155-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7951246"">7951246</a> (ERCC5)
 著者        Nouspikel T, Clarkson SG
 タイトル      Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
 雑誌        Hum Mol Genet 3:963-7 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.6.963"">10.1093/hmg/3.6.963</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10385124"">10385124</a> (POLH)
 著者        Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F
 タイトル      The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
 雑誌        Nature 399:700-4 (1999)
 DOI:<a href=""https://doi.org/10.1038/21447"">10.1038/21447</a>"
H01429,"無菌性髄膜炎
 上位グループ    エンテロウイルス感染症 [DS:H00393]",,,"Aseptic meningitis is one of the most common inflammatory disorders of the meninges and includes all types of meningitis not due to pyogenic bacteria. It has a very broad etiology, including both viral and non-viral infections, drugs, malignancy, and systemic illness. Viral meningitis constitutes the most common cause of aseptic meningitis. Clinical manifestations include headache, fever, malaise, photophobia, and meningeal signs.",神経系疾患; 感染症,,,"Non-polio human enteroviruses including:
 Echovirus
 Coxsackievirus
 Herpes simplex viruses including:
 Human alphaherpesvirus 1 [GN:T40073]
 Human alphaherpesvirus 2 [GN:T40074]
 Lymphocytic choriomeningitis mammarenavirus [GN:T40091]
 Mumps virus [GN:T40034]",,,,,"ICD-11: 1D01.Y
 ICD-10: G03
 MeSH: D008582","PMID:30731305
 著者        Wright WF, Pinto CN, Palisoc K, Baghli S
 タイトル      Viral (aseptic) meningitis: A review.
 雑誌        J Neurol Sci 398:176-183 (2019)
 DOI:10.1016/j.jns.2019.01.050
 PMID:15684450
 著者        Kumar R
 タイトル      Aseptic meningitis: diagnosis and management.
 雑誌        Indian J Pediatr 72:57-63 (2005)
 DOI:10.1007/BF02760582
 PMID:17471037
 著者        Lee BE, Davies HD
 タイトル      Aseptic meningitis.
 雑誌        Curr Opin Infect Dis 20:272-7 (2007)
 DOI:10.1097/QCO.0b013e3280ad4672","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01429"">H01429</a>","無菌性髄膜炎
 上位グループ    エンテロウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>]","Aseptic meningitis is one of the most common inflammatory disorders of the meninges and includes all types of meningitis not due to pyogenic bacteria. It has a very broad etiology, including both viral and non-viral infections, drugs, malignancy, and systemic illness. Viral meningitis constitutes the most common cause of aseptic meningitis. Clinical manifestations include headache, fever, malaise, photophobia, and meningeal signs.",,,"Non-polio human enteroviruses including:
 Echovirus
 Coxsackievirus
 Herpes simplex viruses including:
 Human alphaherpesvirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40073"">T40073</a>]
 Human alphaherpesvirus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40074"">T40074</a>]
 Lymphocytic choriomeningitis mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40091"">T40091</a>]
 Mumps virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40034"">T40034</a>]",,,,,"ICD-11: 1D01.Y
 ICD-10: G03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008582"">D008582</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30731305"">30731305</a>
 著者        Wright WF, Pinto CN, Palisoc K, Baghli S
 タイトル      Viral (aseptic) meningitis: A review.
 雑誌        J Neurol Sci 398:176-183 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2019.01.050"">10.1016/j.jns.2019.01.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15684450"">15684450</a>
 著者        Kumar R
 タイトル      Aseptic meningitis: diagnosis and management.
 雑誌        Indian J Pediatr 72:57-63 (2005)
 DOI:<a href=""https://doi.org/10.1007/BF02760582"">10.1007/BF02760582</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17471037"">17471037</a>
 著者        Lee BE, Davies HD
 タイトル      Aseptic meningitis.
 雑誌        Curr Opin Infect Dis 20:272-7 (2007)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e3280ad4672"">10.1097/QCO.0b013e3280ad4672</a>"
H01430,感染性胃腸炎,,,"Viral gastroenteritis is an infection of the stomach and intestines caused by a variety of viruses. Rotavirus, enteric adenovirus, calicivirus, and astrovirus typically cause diarrhea in infants and young children, whereas the Norwalk group of viruses (and occasionally calicivirus and astrovirus) produces explosive epidemics of gastroenteritis associated with contaminated water and foods, in adults as well as school-age children. No effective treatments have been developed for viral gastroenteritis. Current efforts are targeted at the development of suitable vaccines and the implementation of infection control measures.",感染症,,,"Rotavirus A [GN:T40092]
 Human rotavirus B [GN:T40123]
 Rotavirus C [GN:T40094]
 Enteric adenovirus
 Norwalk virus [GN:T40107]
 Norwalk-like virus
 Calicivirus
 Astrovirus",,,,,"ICD-10: A08
 MeSH: D005759","PMID:15353966
 著者        Clark B, McKendrick M
 タイトル      A review of viral gastroenteritis.
 雑誌        Curr Opin Infect Dis 17:461-9 (2004)
 DOI:10.1097/00001432-200410000-00011
 PMID:1647494 (description, pathogen)
 著者        Blacklow NR, Greenberg HB
 タイトル      Viral gastroenteritis.
 雑誌        N Engl J Med 325:252-64 (1991)
 DOI:10.1056/NEJM199107253250406","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01430"">H01430</a>",感染性胃腸炎,"Viral gastroenteritis is an infection of the stomach and intestines caused by a variety of viruses. Rotavirus, enteric adenovirus, calicivirus, and astrovirus typically cause diarrhea in infants and young children, whereas the Norwalk group of viruses (and occasionally calicivirus and astrovirus) produces explosive epidemics of gastroenteritis associated with contaminated water and foods, in adults as well as school-age children. No effective treatments have been developed for viral gastroenteritis. Current efforts are targeted at the development of suitable vaccines and the implementation of infection control measures.",,,"Rotavirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40092"">T40092</a>]
 Human rotavirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40123"">T40123</a>]
 Rotavirus C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40094"">T40094</a>]
 Enteric adenovirus
 Norwalk virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40107"">T40107</a>]
 Norwalk-like virus
 Calicivirus
 Astrovirus",,,,,"ICD-10: A08
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005759"">D005759</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15353966"">15353966</a>
 著者        Clark B, McKendrick M
 タイトル      A review of viral gastroenteritis.
 雑誌        Curr Opin Infect Dis 17:461-9 (2004)
 DOI:<a href=""https://doi.org/10.1097/00001432-200410000-00011"">10.1097/00001432-200410000-00011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1647494"">1647494</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Blacklow NR, Greenberg HB
 タイトル      Viral gastroenteritis.
 雑誌        N Engl J Med 325:252-64 (1991)
 DOI:<a href=""https://doi.org/10.1056/NEJM199107253250406"">10.1056/NEJM199107253250406</a>"
H01431,"クッシング症候群
 下位グループ    下垂体腺腫 [DS:H01102]
 Non-pituitary tumor
 CRH-producing tumor
 Adrenocortical tumor
 McCane Albright
 両側大結節性副腎皮質過形成 [DS:H02049]
 原発性色素性副腎皮質結節性異形成 [DS:H00260]",,,"Cushing syndrome (CS) is a rare disorder resulting from prolonged exposure to excess glucocorticoids via exogenous and endogenous sources. The typical clinical features of CS are related to hypercortisolism and include accumulation of central fat, moon facies, neuromuscular weakness, osteoporosis or bone fractures, metabolic complications, and mood changes. Traditionally, endogenous CS is classified as adrenocorticotropic hormone (ACTH)-dependent (about 80%) or ACTH- independent (about 20%). Among ACTH-dependent forms, pituitary corticotroph adenoma (Cushing's disease) is most common. Most pituitary tumors are sporadic, resulting from monoclonal expansion of a single mutated cell. Recently recurrent activating somatic driver mutations in the ubiquitin-specific protease 8 gene (USP8) were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent protein kinase type I alpha regulatory subunit) and CDKN1B (encoding cyclin-dependent kinase inhibitor 1B; also known as p27 Kip1) have been identified in familial forms of pituitary adenomas. However, the frequency of familial pituitary adenomas is less than 5% in patients with pituitary adenomas. Among ACTH-independent CS, adrenal adenoma is most common. Rare adrenal causes of CS include primary bilateral macronodular adrenal hyperplasia (BMAH) or primary pigmented nodular adrenocortical disease (PPNAD).",内分泌代謝疾患,"nt06310  CRH-ACTH-cortisol signaling
 nt06360  Cushing syndrome","(MEN1) MEN1 [HSA:4221] [KO:K14970]
 (MEN4) CDKN1B [HSA:1027] [KO:K06624]
 (CNC1) PRKAR1A [HSA:5573] [KO:K04739]
 (PITA1) AIP [HSA:9049] [KO:K17767]
 (PITA2) GPR101 [HSA:83550] [KO:K08423]
 (PITA3) GNAS [HSA:2778] [KO:K04632]
 (PITA4) USP8 [HSA:9101] [KO:K11839]
 (PITA5) CDH23 [HSA:64072] [KO:K06813]
 (AIMAH2) ARMC5 [HSA:79798] [KO:K22499]
 (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
 (PPNAD2) PDE11A [HSA:50940] [KO:K13298]
 (PPNAD3) PDE8B [HSA:8622] [KO:K18437]
 (PPNAD4) PRKACA [HSA:5566] [KO:K04345]
 RASD1 [HSA:51655] [KO:K07843]",,,,"パシレオチドパモ酸塩 [DR:D10566]
 トリロスタン [DR:D01180]
 オシロドロスタットリン酸塩 [DR:D11062]
 ミトタン [DR:D00420]
 メチラポン [DR:D00410]",,"ICD-11: 5A70
 ICD-10: E24
 MeSH: D003480
 OMIM: 131100 610755 160980 102200 300943 617686 219090 617540 219080 615954 610489 610475 614190 615830","PMID:26004339
 著者        Lacroix A, Feelders RA, Stratakis CA, Nieman LK
 タイトル      Cushing's syndrome.
 雑誌        Lancet 386:913-27 (2015)
 DOI:10.1016/S0140-6736(14)61375-1
 PMID:25350067
 著者        Lecoq AL, Kamenicky P, Guiochon-Mantel A, Chanson P
 タイトル      Genetic mutations in sporadic pituitary adenomas--what to screen for?
 雑誌        Nat Rev Endocrinol 11:43-54 (2015)
 DOI:10.1038/nrendo.2014.181
 PMID:28850717
 著者        Albani A, Theodoropoulou M, Reincke M
 タイトル      Genetics of Cushing's disease.
 雑誌        Clin Endocrinol (Oxf) 88:3-12 (2018)
 DOI:10.1111/cen.13457
 PMID:12791038 (MEN1)
 著者        Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Park JH, Moon SD, Park JG
 タイトル      Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.
 雑誌        Clin Genet 64:48-53 (2003)
 DOI:10.1034/j.1399-0004.2003.00091.x
 PMID:17030811 (CDKN1B)
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:10.1073/pnas.0603877103
 PMID:12812976 (PRKAR1A)
 著者        Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA
 タイトル      Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.
 雑誌        Hum Mol Genet 12:1475-84 (2003)
 DOI:10.1093/hmg/ddg160
 PMID:16728643 (AIP)
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:10.1126/science.1126100
 PMID:25470569 (GPR101)
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:10.1056/NEJMoa1408028
 PMID:7737262 (GNAS)
 著者        Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE
 タイトル      G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
 雑誌        Eur J Clin Invest 25:128-31 (1995)
 DOI:10.1111/j.1365-2362.1995.tb01537.x
 PMID:25485838 (USP8)
 著者        Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
 タイトル      Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
 雑誌        Nat Genet 47:31-8 (2015)
 DOI:10.1038/ng.3166
 PMID:28413019 (CDH23)
 著者        Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, Shou X, Ma Z, Peng H, Jian X, He W, Ye Z, Li Z, Wang Y, Ye H, Zhang Z, Shen M, Tang F, Chen H, Shi Z, Chen C, Chen Z, Shen Y, Wang Y, Lu S, Zhang J, Li Y, Li S, Mao Y, Zhou L, Yan H, Shi Y, Huang C, Zhao Y
 タイトル      Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
 雑誌        Am J Hum Genet 100:817-823 (2017)
 DOI:10.1016/j.ajhg.2017.03.011
 PMID:24601692 (ARMC5)
 著者        Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libe R, Assie G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA
 タイトル      Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
 雑誌        J Clin Endocrinol Metab 99:E1113-9 (2014)
 DOI:10.1210/jc.2013-4280
 PMID:12213893 (PRKAR1A)
 著者        Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J
 タイトル      Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.
 雑誌        J Clin Endocrinol Metab 87:4324-9 (2002)
 DOI:10.1210/jc.2002-020592
 PMID:16767104 (PDE11A)
 著者        Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA
 タイトル      A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
 雑誌        Nat Genet 38:794-800 (2006)
 DOI:10.1038/ng1809
 PMID:18272904 (PDE8B)
 著者        Horvath A, Mericq V, Stratakis CA
 タイトル      Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.
 雑誌        N Engl J Med 358:750-2 (2008)
 DOI:10.1056/NEJMc0706182
 PMID:24571724 (PRKACA)
 著者        Beuschlein F, Fassnacht M, Assie G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B
 タイトル      Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
 雑誌        N Engl J Med 370:1019-28 (2014)
 DOI:10.1056/NEJMoa1310359
 PMID:28487882 (RASD1)
 著者        Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
 タイトル      Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001602 (2017)
 DOI:10.1101/mcs.a001602","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a>","クッシング症候群
 下位グループ    下垂体腺腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a>]
 Non-pituitary tumor
 CRH-producing tumor
 Adrenocortical tumor
 McCane Albright
 両側大結節性副腎皮質過形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02049"">H02049</a>]
 原発性色素性副腎皮質結節性異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00260"">H00260</a>]","Cushing syndrome (CS) is a rare disorder resulting from prolonged exposure to excess glucocorticoids via exogenous and endogenous sources. The typical clinical features of CS are related to hypercortisolism and include accumulation of central fat, moon facies, neuromuscular weakness, osteoporosis or bone fractures, metabolic complications, and mood changes. Traditionally, endogenous CS is classified as adrenocorticotropic hormone (ACTH)-dependent (about 80%) or ACTH- independent (about 20%). Among ACTH-dependent forms, pituitary corticotroph adenoma (Cushing's disease) is most common. Most pituitary tumors are sporadic, resulting from monoclonal expansion of a single mutated cell. Recently recurrent activating somatic driver mutations in the ubiquitin-specific protease 8 gene (USP8) were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent protein kinase type I alpha regulatory subunit) and CDKN1B (encoding cyclin-dependent kinase inhibitor 1B; also known as p27 Kip1) have been identified in familial forms of pituitary adenomas. However, the frequency of familial pituitary adenomas is less than 5% in patients with pituitary adenomas. Among ACTH-independent CS, adrenal adenoma is most common. Rare adrenal causes of CS include primary bilateral macronodular adrenal hyperplasia (BMAH) or primary pigmented nodular adrenocortical disease (PPNAD).","<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling
 <a href=""https://www.kegg.jp/network/nt06360"">nt06360</a>  Cushing syndrome","(MEN1) MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 (MEN4) CDKN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1027"">1027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06624"">K06624</a>]
 (CNC1) PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]
 (PITA1) AIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9049"">9049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17767"">K17767</a>]
 (PITA2) GPR101 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83550"">83550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08423"">K08423</a>]
 (PITA3) GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]
 (PITA4) USP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9101"">9101</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11839"">K11839</a>]
 (PITA5) CDH23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64072"">64072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06813"">K06813</a>]
 (AIMAH2) ARMC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79798"">79798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22499"">K22499</a>]
 (PPNAD1) PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]
 (PPNAD2) PDE11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50940"">50940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13298"">K13298</a>]
 (PPNAD3) PDE8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8622"">8622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18437"">K18437</a>]
 (PPNAD4) PRKACA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5566"">5566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]
 RASD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51655"">51655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07843"">K07843</a>]",,,,"パシレオチドパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10566"">D10566</a>]
 トリロスタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01180"">D01180</a>]
 オシロドロスタットリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11062"">D11062</a>]
 ミトタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00420"">D00420</a>]
 メチラポン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00410"">D00410</a>]",,"ICD-11: 5A70
 ICD-10: E24
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003480"">D003480</a>
 OMIM: <a href=""https://www.omim.org/entry/131100"">131100</a> <a href=""https://www.omim.org/entry/610755"">610755</a> <a href=""https://www.omim.org/entry/160980"">160980</a> <a href=""https://www.omim.org/entry/102200"">102200</a> <a href=""https://www.omim.org/entry/300943"">300943</a> <a href=""https://www.omim.org/entry/617686"">617686</a> <a href=""https://www.omim.org/entry/219090"">219090</a> <a href=""https://www.omim.org/entry/617540"">617540</a> <a href=""https://www.omim.org/entry/219080"">219080</a> <a href=""https://www.omim.org/entry/615954"">615954</a> <a href=""https://www.omim.org/entry/610489"">610489</a> <a href=""https://www.omim.org/entry/610475"">610475</a> <a href=""https://www.omim.org/entry/614190"">614190</a> <a href=""https://www.omim.org/entry/615830"">615830</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26004339"">26004339</a>
 著者        Lacroix A, Feelders RA, Stratakis CA, Nieman LK
 タイトル      Cushing's syndrome.
 雑誌        Lancet 386:913-27 (2015)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(14)61375-1"">10.1016/S0140-6736(14)61375-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25350067"">25350067</a>
 著者        Lecoq AL, Kamenicky P, Guiochon-Mantel A, Chanson P
 タイトル      Genetic mutations in sporadic pituitary adenomas--what to screen for?
 雑誌        Nat Rev Endocrinol 11:43-54 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2014.181"">10.1038/nrendo.2014.181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28850717"">28850717</a>
 著者        Albani A, Theodoropoulou M, Reincke M
 タイトル      Genetics of Cushing's disease.
 雑誌        Clin Endocrinol (Oxf) 88:3-12 (2018)
 DOI:<a href=""https://doi.org/10.1111/cen.13457"">10.1111/cen.13457</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12791038"">12791038</a> (MEN1)
 著者        Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Park JH, Moon SD, Park JG
 タイトル      Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.
 雑誌        Clin Genet 64:48-53 (2003)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2003.00091.x"">10.1034/j.1399-0004.2003.00091.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17030811"">17030811</a> (CDKN1B)
 著者        Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
 タイトル      Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
 雑誌        Proc Natl Acad Sci U S A 103:15558-63 (2006)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603877103"">10.1073/pnas.0603877103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12812976"">12812976</a> (PRKAR1A)
 著者        Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA
 タイトル      Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.
 雑誌        Hum Mol Genet 12:1475-84 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg160"">10.1093/hmg/ddg160</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16728643"">16728643</a> (AIP)
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1126100"">10.1126/science.1126100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25470569"">25470569</a> (GPR101)
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1408028"">10.1056/NEJMoa1408028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7737262"">7737262</a> (GNAS)
 著者        Williamson EA, Ince PG, Harrison D, Kendall-Taylor P, Harris PE
 タイトル      G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.
 雑誌        Eur J Clin Invest 25:128-31 (1995)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2362.1995.tb01537.x"">10.1111/j.1365-2362.1995.tb01537.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25485838"">25485838</a> (USP8)
 著者        Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
 タイトル      Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
 雑誌        Nat Genet 47:31-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3166"">10.1038/ng.3166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28413019"">28413019</a> (CDH23)
 著者        Zhang Q, Peng C, Song J, Zhang Y, Chen J, Song Z, Shou X, Ma Z, Peng H, Jian X, He W, Ye Z, Li Z, Wang Y, Ye H, Zhang Z, Shen M, Tang F, Chen H, Shi Z, Chen C, Chen Z, Shen Y, Wang Y, Lu S, Zhang J, Li Y, Li S, Mao Y, Zhou L, Yan H, Shi Y, Huang C, Zhao Y
 タイトル      Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
 雑誌        Am J Hum Genet 100:817-823 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.03.011"">10.1016/j.ajhg.2017.03.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24601692"">24601692</a> (ARMC5)
 著者        Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libe R, Assie G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA
 タイトル      Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
 雑誌        J Clin Endocrinol Metab 99:E1113-9 (2014)
 DOI:<a href=""https://doi.org/10.1210/jc.2013-4280"">10.1210/jc.2013-4280</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12213893"">12213893</a> (PRKAR1A)
 著者        Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J
 タイトル      Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.
 雑誌        J Clin Endocrinol Metab 87:4324-9 (2002)
 DOI:<a href=""https://doi.org/10.1210/jc.2002-020592"">10.1210/jc.2002-020592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16767104"">16767104</a> (PDE11A)
 著者        Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA
 タイトル      A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
 雑誌        Nat Genet 38:794-800 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1809"">10.1038/ng1809</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18272904"">18272904</a> (PDE8B)
 著者        Horvath A, Mericq V, Stratakis CA
 タイトル      Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.
 雑誌        N Engl J Med 358:750-2 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMc0706182"">10.1056/NEJMc0706182</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24571724"">24571724</a> (PRKACA)
 著者        Beuschlein F, Fassnacht M, Assie G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B
 タイトル      Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
 雑誌        N Engl J Med 370:1019-28 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1310359"">10.1056/NEJMoa1310359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28487882"">28487882</a> (RASD1)
 著者        Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
 タイトル      Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
 雑誌        Cold Spring Harb Mol Case Stud 3:a001602 (2017)
 DOI:<a href=""https://doi.org/10.1101/mcs.a001602"">10.1101/mcs.a001602</a>"
H01432,"有棘赤血球を伴う舞踏病
 上位グループ    中核群神経有棘赤血球症 [DS:H00832]",,,"Choreoacanthocytosis (CHAC) is a type of neuroacanthocytosis, a heterogeneous group of hereditary syndromes characterized by the association of neurologic abnormalities with acanthocytic red blood cells. This disease caused by a variety of mutations in the VPS13A gene. The inheritance is mainly autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. VPS13A gene encodes the chorein protein, which is thought to have a role in the change of cellular structures. CHAC is characterized by involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations. Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.",神経系疾患,,VPS13A [HSA:23230] [KO:K19525],,,,,See also H00832 Core neuroacanthocytosis syndromes.,"ICD-11: 3A10.Y 8A03.1Y
 ICD-10: G25
 MeSH: D054546
 OMIM: 200150","PMID:15824261
 著者        Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
 タイトル      Early clinical heterogeneity in choreoacanthocytosis.
 雑誌        Arch Neurol 62:611-4 (2005)
 DOI:10.1001/archneur.62.4.611
 PMID:17998451
 著者        Ruiz-Sandoval JL, Garcia-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martinez JJ, Barrera-Chairez E, Rodriguez-Figueroa EI, Perez-Garcia G
 タイトル      Choreoacanthocytosis in a Mexican family.
 雑誌        Arch Neurol 64:1661-4 (2007)
 DOI:10.1001/archneur.64.11.1661
 PMID:22258171
 著者        Sokolov E, Schneider SA, Bain PG
 タイトル      Chorea-acanthocytosis.
 雑誌        Pract Neurol 12:40-3 (2012)
 DOI:10.1136/practneurol-2011-000045","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01432"">H01432</a>","有棘赤血球を伴う舞踏病
 上位グループ    中核群神経有棘赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>]","Choreoacanthocytosis (CHAC) is a type of neuroacanthocytosis, a heterogeneous group of hereditary syndromes characterized by the association of neurologic abnormalities with acanthocytic red blood cells. This disease caused by a variety of mutations in the VPS13A gene. The inheritance is mainly autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. VPS13A gene encodes the chorein protein, which is thought to have a role in the change of cellular structures. CHAC is characterized by involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations. Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.",,"VPS13A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23230"">23230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19525"">K19525</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a> Core neuroacanthocytosis syndromes.","ICD-11: 3A10.Y 8A03.1Y
 ICD-10: G25
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054546"">D054546</a>
 OMIM: <a href=""https://www.omim.org/entry/200150"">200150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15824261"">15824261</a>
 著者        Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
 タイトル      Early clinical heterogeneity in choreoacanthocytosis.
 雑誌        Arch Neurol 62:611-4 (2005)
 DOI:<a href=""https://doi.org/10.1001/archneur.62.4.611"">10.1001/archneur.62.4.611</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17998451"">17998451</a>
 著者        Ruiz-Sandoval JL, Garcia-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martinez JJ, Barrera-Chairez E, Rodriguez-Figueroa EI, Perez-Garcia G
 タイトル      Choreoacanthocytosis in a Mexican family.
 雑誌        Arch Neurol 64:1661-4 (2007)
 DOI:<a href=""https://doi.org/10.1001/archneur.64.11.1661"">10.1001/archneur.64.11.1661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22258171"">22258171</a>
 著者        Sokolov E, Schneider SA, Bain PG
 タイトル      Chorea-acanthocytosis.
 雑誌        Pract Neurol 12:40-3 (2012)
 DOI:<a href=""https://doi.org/10.1136/practneurol-2011-000045"">10.1136/practneurol-2011-000045</a>"
H01433,バット・キアリ症候群,,,"Budd-Chiari syndrome is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal hypertension, and sometimes rapidly deteriorating liver function. Factors that confer a predisposition to the development of the Budd-Chiari syndrome, including hypercoagulable states, both hereditary and acquired, and a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome.",循環器疾患,,"F5 [HSA:2153] [KO:K03902]
 JAK2 [HSA:3717] [KO:K04447]",,,,,,"ICD-11: DB98.5
 ICD-10: I82.0
 MeSH: D006502
 OMIM: 600880","PMID:14762185
 著者        Menon KV, Shah V, Kamath PS
 タイトル      The Budd-Chiari syndrome.
 雑誌        N Engl J Med 350:578-85 (2004)
 DOI:10.1056/NEJMra020282
 PMID:16762626
 著者        Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gaken J, Wendon J, Heaton ND, Mufti GJ
 タイトル      Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
 雑誌        Gastroenterology 130:2031-8 (2006)
 DOI:10.1053/j.gastro.2006.04.008
 PMID:11001884
 著者        Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR
 タイトル      Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.
 雑誌        Blood 96:2364-8 (2000)
 PMID:22059108
 著者        Mancuso A
 タイトル      Budd-Chiari syndrome management: Lights and shadows.
 雑誌        World J Hepatol 3:262-4 (2011)
 DOI:10.4254/wjh.v3.i10.262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01433"">H01433</a>",バット・キアリ症候群,"Budd-Chiari syndrome is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal hypertension, and sometimes rapidly deteriorating liver function. Factors that confer a predisposition to the development of the Budd-Chiari syndrome, including hypercoagulable states, both hereditary and acquired, and a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome.",,"F5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2153"">2153</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03902"">K03902</a>]
 JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]",,,,,,"ICD-11: DB98.5
 ICD-10: I82.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006502"">D006502</a>
 OMIM: <a href=""https://www.omim.org/entry/600880"">600880</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14762185"">14762185</a>
 著者        Menon KV, Shah V, Kamath PS
 タイトル      The Budd-Chiari syndrome.
 雑誌        N Engl J Med 350:578-85 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJMra020282"">10.1056/NEJMra020282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16762626"">16762626</a>
 著者        Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gaken J, Wendon J, Heaton ND, Mufti GJ
 タイトル      Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
 雑誌        Gastroenterology 130:2031-8 (2006)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2006.04.008"">10.1053/j.gastro.2006.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11001884"">11001884</a>
 著者        Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR
 タイトル      Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.
 雑誌        Blood 96:2364-8 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22059108"">22059108</a>
 著者        Mancuso A
 タイトル      Budd-Chiari syndrome management: Lights and shadows.
 雑誌        World J Hepatol 3:262-4 (2011)
 DOI:<a href=""https://doi.org/10.4254/wjh.v3.i10.262"">10.4254/wjh.v3.i10.262</a>"
H01434,非典型溶血性尿毒症症候群,,,"The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.",血液疾患,,"(AHUS1) CFH [HSA:3075] [KO:K04004]
 (AHUS1) CFHR3 [HSA:10878] [KO:K23815]
 (AHUS1) CFHR1 [HSA:3078] [KO:K23815]
 (AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
 (AHUS3) CFI, IF [HSA:3426] [KO:K01333]
 (AHUS4) CFB [HSA:629] [KO:K01335]
 (AHUS5) C3 [HSA:718] [KO:K03990]
 (AHUS6) THBD [HSA:7056] [KO:K03907]",,,,"エクリズマブ [DR:D03940]
 ラブリズマブ [DR:D11054]",,"ICD-11: 3A10.Y
 ICD-10: D58.8
 MeSH: D065766
 OMIM: 235400 612922 612923 612924 612925 612926","PMID:16968692
 著者        Kavanagh D, Goodship TH, Richards A
 タイトル      Atypical haemolytic uraemic syndrome.
 雑誌        Br Med Bull 77-78:5-22 (2006)
 DOI:10.1093/bmb/ldl004
 PMID:17182750
 著者        Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S
 タイトル      Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
 雑誌        Proc Natl Acad Sci U S A 104:240-5 (2007)
 DOI:10.1073/pnas.0603420103
 PMID:18796626
 著者        Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP
 タイトル      Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
 雑誌        Blood 112:4948-52 (2008)
 DOI:10.1182/blood-2008-01-133702
 PMID:19625716
 著者        Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM
 タイトル      Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
 雑誌        N Engl J Med 361:345-57 (2009)
 DOI:10.1056/NEJMoa0810739","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01434"">H01434</a>",非典型溶血性尿毒症症候群,"The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.",,"(AHUS1) CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 (AHUS1) CFHR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10878"">10878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23815"">K23815</a>]
 (AHUS1) CFHR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3078"">3078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23815"">K23815</a>]
 (AHUS2) CD46, MCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4179"">4179</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04007"">K04007</a>]
 (AHUS3) CFI, IF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3426"">3426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01333"">K01333</a>]
 (AHUS4) CFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:629"">629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01335"">K01335</a>]
 (AHUS5) C3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:718"">718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03990"">K03990</a>]
 (AHUS6) THBD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7056"">7056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03907"">K03907</a>]",,,,"エクリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03940"">D03940</a>]
 ラブリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11054"">D11054</a>]",,"ICD-11: 3A10.Y
 ICD-10: D58.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065766"">D065766</a>
 OMIM: <a href=""https://www.omim.org/entry/235400"">235400</a> <a href=""https://www.omim.org/entry/612922"">612922</a> <a href=""https://www.omim.org/entry/612923"">612923</a> <a href=""https://www.omim.org/entry/612924"">612924</a> <a href=""https://www.omim.org/entry/612925"">612925</a> <a href=""https://www.omim.org/entry/612926"">612926</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16968692"">16968692</a>
 著者        Kavanagh D, Goodship TH, Richards A
 タイトル      Atypical haemolytic uraemic syndrome.
 雑誌        Br Med Bull 77-78:5-22 (2006)
 DOI:<a href=""https://doi.org/10.1093/bmb/ldl004"">10.1093/bmb/ldl004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17182750"">17182750</a>
 著者        Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S
 タイトル      Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
 雑誌        Proc Natl Acad Sci U S A 104:240-5 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0603420103"">10.1073/pnas.0603420103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18796626"">18796626</a>
 著者        Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP
 タイトル      Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
 雑誌        Blood 112:4948-52 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-01-133702"">10.1182/blood-2008-01-133702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19625716"">19625716</a>
 著者        Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM
 タイトル      Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
 雑誌        N Engl J Med 361:345-57 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0810739"">10.1056/NEJMoa0810739</a>"
H01435,"先天性無脾症
 下位グループ    先天性単独無脾症
 無脾症候群
 アイブマーク症候群",,,"Congenital asplenia is a rare developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects. Mutations in the gene RPSA, which encodes ribosomal protein, cause more than half of the cases of isolated congenital asplenia. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. Congenital asplenia often occurs in the context of a recognised malformation syndrome, called the Ivemark syndrome.",先天奇形,,"RPSA [HSA:3921] [KO:K02998]
 GDF1 [HSA:2657] [KO:K05495]",,,,,Please see also H00632 Heterotaxy.,"ICD-11: LB22.0
 ICD-10: Q89.0
 MeSH: C563028 D059446
 OMIM: 271400 208530","PMID:23579497
 著者        Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL
 タイトル      Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
 雑誌        Science 340:976-8 (2013)
 DOI:10.1126/science.1234864
 PMID:19618213
 著者        Ahmed SA, Zengeya S, Kini U, Pollard AJ
 タイトル      Familial isolated congenital asplenia: case report and literature review.
 雑誌        Eur J Pediatr 169:315-8 (2010)
 DOI:10.1007/s00431-009-1030-0
 PMID:20413652
 著者        Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R
 タイトル      Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
 雑誌        Hum Mol Genet 19:2747-53 (2010)
 DOI:10.1093/hmg/ddq164","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01435"">H01435</a>","先天性無脾症
 下位グループ    先天性単独無脾症
 無脾症候群
 アイブマーク症候群","Congenital asplenia is a rare developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects. Mutations in the gene RPSA, which encodes ribosomal protein, cause more than half of the cases of isolated congenital asplenia. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. Congenital asplenia often occurs in the context of a recognised malformation syndrome, called the Ivemark syndrome.",,"RPSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3921"">3921</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02998"">K02998</a>]
 GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]",,,,,"Please see also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00632"">H00632</a> Heterotaxy.","ICD-11: LB22.0
 ICD-10: Q89.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563028"">C563028</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D059446"">D059446</a>
 OMIM: <a href=""https://www.omim.org/entry/271400"">271400</a> <a href=""https://www.omim.org/entry/208530"">208530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23579497"">23579497</a>
 著者        Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL
 タイトル      Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
 雑誌        Science 340:976-8 (2013)
 DOI:<a href=""https://doi.org/10.1126/science.1234864"">10.1126/science.1234864</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19618213"">19618213</a>
 著者        Ahmed SA, Zengeya S, Kini U, Pollard AJ
 タイトル      Familial isolated congenital asplenia: case report and literature review.
 雑誌        Eur J Pediatr 169:315-8 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00431-009-1030-0"">10.1007/s00431-009-1030-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20413652"">20413652</a>
 著者        Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R
 タイトル      Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
 雑誌        Hum Mol Genet 19:2747-53 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq164"">10.1093/hmg/ddq164</a>"
H01436,ギランバレー症候群,,,"Guillain-Barre syndrome (GBS) is an acute polyneuropathy characterized by progressive motor weakness of limbs with areflexia. This disease is usually triggered by an infection, which provokes immune-mediated nerve dysfunction. GBS can be subdivided into the classic acute demyelinating type, acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN). Classic acute demyelinating type is designated acute inflammatory demyelinating polyneuropathy (AIDP), representing the great majority of cases in Europe and North America. A mutation in the PMP22 gene was identified in a family with AIDP. AMAN is the most prevalent form in China. The incidence of AMSAN is very low. The axonal forms of GBS are caused by certain autoimmune mechanisms, due to a molecular mimicry between antecedent bacterial infection (particularly Campylobacter jejuni) and human peripheral nerve gangliosides.",神経系疾患,,PMP22 [HSA:5376] [KO:K19289],,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥スルホ化人免疫グロブリン [DR:D08786]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]",,"ICD-11: 8C01.0
 ICD-10: G61.0
 MeSH: D020275
 OMIM: 139393","PMID:12439896
 著者        Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I
 タイトル      Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
 雑誌        Am J Med Genet 113:275-8 (2002)
 DOI:10.1002/ajmg.10725
 PMID:15958124 (drug)
 著者        van Doorn PA
 タイトル      Treatment of Guillain-Barre syndrome and CIDP.
 雑誌        J Peripher Nerv Syst 10:113-27 (2005)
 DOI:10.1111/j.1085-9489.2005.0010203.x
 PMID:25738052
 著者        Kumar M, Aroor S, Mundkur S, Kumar S
 タイトル      Guillain-barre syndrome: a clinical study of twenty children.
 雑誌        J Clin Diagn Res 9:SC09-12 (2015)
 DOI:10.7860/JCDR/2015/8344.5491
 PMID:16271648
 著者        Hughes RA, Cornblath DR
 タイトル      Guillain-Barre syndrome.
 雑誌        Lancet 366:1653-66 (2005)
 DOI:10.1016/S0140-6736(05)67665-9
 PMID:22850724
 著者        Yuki N
 タイトル      Guillain-Barre syndrome and anti-ganglioside antibodies: a clinician-scientist's journey.
 雑誌        Proc Jpn Acad Ser B Phys Biol Sci 88:299-326 (2012)
 DOI:10.2183/pjab.88.299","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01436"">H01436</a>",ギランバレー症候群,"Guillain-Barre syndrome (GBS) is an acute polyneuropathy characterized by progressive motor weakness of limbs with areflexia. This disease is usually triggered by an infection, which provokes immune-mediated nerve dysfunction. GBS can be subdivided into the classic acute demyelinating type, acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN). Classic acute demyelinating type is designated acute inflammatory demyelinating polyneuropathy (AIDP), representing the great majority of cases in Europe and North America. A mutation in the PMP22 gene was identified in a family with AIDP. AMAN is the most prevalent form in China. The incidence of AMSAN is very low. The axonal forms of GBS are caused by certain autoimmune mechanisms, due to a molecular mimicry between antecedent bacterial infection (particularly Campylobacter jejuni) and human peripheral nerve gangliosides.",,"PMP22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5376"">5376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19289"">K19289</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]",,"ICD-11: 8C01.0
 ICD-10: G61.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020275"">D020275</a>
 OMIM: <a href=""https://www.omim.org/entry/139393"">139393</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12439896"">12439896</a>
 著者        Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I
 タイトル      Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
 雑誌        Am J Med Genet 113:275-8 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10725"">10.1002/ajmg.10725</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15958124"">15958124</a> (drug)
 著者        van Doorn PA
 タイトル      Treatment of Guillain-Barre syndrome and CIDP.
 雑誌        J Peripher Nerv Syst 10:113-27 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1085-9489.2005.0010203.x"">10.1111/j.1085-9489.2005.0010203.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25738052"">25738052</a>
 著者        Kumar M, Aroor S, Mundkur S, Kumar S
 タイトル      Guillain-barre syndrome: a clinical study of twenty children.
 雑誌        J Clin Diagn Res 9:SC09-12 (2015)
 DOI:<a href=""https://doi.org/10.7860/JCDR/2015/8344.5491"">10.7860/JCDR/2015/8344.5491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16271648"">16271648</a>
 著者        Hughes RA, Cornblath DR
 タイトル      Guillain-Barre syndrome.
 雑誌        Lancet 366:1653-66 (2005)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(05)67665-9"">10.1016/S0140-6736(05)67665-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22850724"">22850724</a>
 著者        Yuki N
 タイトル      Guillain-Barre syndrome and anti-ganglioside antibodies: a clinician-scientist's journey.
 雑誌        Proc Jpn Acad Ser B Phys Biol Sci 88:299-326 (2012)
 DOI:<a href=""https://doi.org/10.2183/pjab.88.299"">10.2183/pjab.88.299</a>"
H01437,"神経線維腫症 I 型;
 レックリングハウゼン病
 下位グループ    家族性脊髄性神経線維腫症
 Watson 症候群 [DS:H02188]
 Legius 症候群 [DS:H01986]
 神経線維腫性ヌーナン症候群 [DS:H02189]",,,"Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disease caused by mutations of NF1 gene on chromosome 17. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births and there is no sex or racial predilection. NF1 is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.",先天奇形,,NF1 [HSA:4763] [KO:K08052],,,,,,"ICD-11: LD2D.10
 ICD-10: Q85.0
 MeSH: D009456
 OMIM: 162200 162210","PMID:19117870
 著者        Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL
 タイトル      Neurofibromatosis type 1 revisited.
 雑誌        Pediatrics 123:124-33 (2009)
 DOI:10.1542/peds.2007-3204
 PMID:23162593
 著者        Ghalayani P, Saberi Z, Sardari F
 タイトル      Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review.
 雑誌        Dent Res J (Isfahan) 9:483-8 (2012)
 PMID:20301288
 著者        Friedman JM
 タイトル      Neurofibromatosis 1
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01437"">H01437</a>","神経線維腫症 I 型;
 レックリングハウゼン病
 下位グループ    家族性脊髄性神経線維腫症
 Watson 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02188"">H02188</a>]
 Legius 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01986"">H01986</a>]
 神経線維腫性ヌーナン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02189"">H02189</a>]","Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disease caused by mutations of NF1 gene on chromosome 17. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births and there is no sex or racial predilection. NF1 is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.",,"NF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]",,,,,,"ICD-11: LD2D.10
 ICD-10: Q85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009456"">D009456</a>
 OMIM: <a href=""https://www.omim.org/entry/162200"">162200</a> <a href=""https://www.omim.org/entry/162210"">162210</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19117870"">19117870</a>
 著者        Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL
 タイトル      Neurofibromatosis type 1 revisited.
 雑誌        Pediatrics 123:124-33 (2009)
 DOI:<a href=""https://doi.org/10.1542/peds.2007-3204"">10.1542/peds.2007-3204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23162593"">23162593</a>
 著者        Ghalayani P, Saberi Z, Sardari F
 タイトル      Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review.
 雑誌        Dent Res J (Isfahan) 9:483-8 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301288"">20301288</a>
 著者        Friedman JM
 タイトル      Neurofibromatosis 1
 雑誌        GeneReviews (1993)"
H01438,神経線維腫症 II 型,,,"Neurofibromatosis 2 (NF2) is a rare autosomal dominant multiple neoplasia syndrome that is caused by inactivating mutations of the NF2 tumour suppressor gene. The course of the disease is usually progressive, though variable, causing significant morbidity associated with deafness, blindness, brain stem compression, gait instability, and paralysis. Onset typically occurs while a patient is in their 20s. Vestibular schwannomas, usually bilateral, occur in more than 90% of adult patients and intracranial meningiomas occur in about 50% of patients.",先天奇形,,NF2 [HSA:4771] [KO:K16684],,,,,,"ICD-11: LD2D.11
 ICD-10: Q85.0
 MeSH: D016518
 OMIM: 101000","PMID:19545378
 著者        Evans DG
 タイトル      Neurofibromatosis type 2 (NF2): a clinical and molecular review.
 雑誌        Orphanet J Rare Dis 4:16 (2009)
 DOI:10.1186/1750-1172-4-16
 PMID:15994874
 著者        Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG
 タイトル      The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
 雑誌        J Med Genet 42:540-6 (2005)
 DOI:10.1136/jmg.2004.029504
 PMID:24877986 (drug)
 著者        Lim SH, Ardern-Holmes S, McCowage G, de Souza P
 タイトル      Systemic therapy in neurofibromatosis type 2.
 雑誌        Cancer Treat Rev 40:857-61 (2014)
 DOI:10.1016/j.ctrv.2014.05.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01438"">H01438</a>",神経線維腫症 II 型,"Neurofibromatosis 2 (NF2) is a rare autosomal dominant multiple neoplasia syndrome that is caused by inactivating mutations of the NF2 tumour suppressor gene. The course of the disease is usually progressive, though variable, causing significant morbidity associated with deafness, blindness, brain stem compression, gait instability, and paralysis. Onset typically occurs while a patient is in their 20s. Vestibular schwannomas, usually bilateral, occur in more than 90% of adult patients and intracranial meningiomas occur in about 50% of patients.",,"NF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4771"">4771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16684"">K16684</a>]",,,,,,"ICD-11: LD2D.11
 ICD-10: Q85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016518"">D016518</a>
 OMIM: <a href=""https://www.omim.org/entry/101000"">101000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19545378"">19545378</a>
 著者        Evans DG
 タイトル      Neurofibromatosis type 2 (NF2): a clinical and molecular review.
 雑誌        Orphanet J Rare Dis 4:16 (2009)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-4-16"">10.1186/1750-1172-4-16</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15994874"">15994874</a>
 著者        Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG
 タイトル      The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
 雑誌        J Med Genet 42:540-6 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.029504"">10.1136/jmg.2004.029504</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24877986"">24877986</a> (drug)
 著者        Lim SH, Ardern-Holmes S, McCowage G, de Souza P
 タイトル      Systemic therapy in neurofibromatosis type 2.
 雑誌        Cancer Treat Rev 40:857-61 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ctrv.2014.05.004"">10.1016/j.ctrv.2014.05.004</a>"
H01439,ウィリアムズ症候群,,,"Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include congenital vascular and heart disease, characteristic facial features, premature aging, generally mild mental retardation, short stature, myopathy, hypercalcemia, and a unique cognitive profile. To date at least 28 genes have been identified within the deleted region.",染色体異常,,"ELN [HSA:2006] [KO:K14211]
 LIMK1 [HSA:3984] [KO:K05743]
 CLIP2 [HSA:7461] [KO:K10422]
 RFC2 [HSA:5982] [KO:K10755]
 BCL7B [HSA:9275] [KO:K25605]
 GTF2I [HSA:2969] [KO:K03121]
 GTF2IRD [HSA:9569] [KO:K03121]
 EIF4H [HSA:7458] [KO:K24086]
 TBL2 [HSA:26608] [KO:K23325]
 MLXIPL [HSA:51085] [KO:K09113]
 FKBP6 [HSA:8468] [KO:K09572]
 BAZ1B [HSA:9031] [KO:K11658]
 CLDN3 [HSA:1365] [KO:K06087]
 CLDN4 [HSA:1364] [KO:K06087]
 DNAJC30 [HSA:84277] [KO:K19374]
 LAT2 [HSA:7462]
 FZD9 [HSA:8326] [KO:K02842]
 STX1A [HSA:6804] [KO:K04560]
 SPDYE1 [HSA:285955] [KO:K08694]
 NSUN5 [HSA:55695] [KO:K15264]
 ABHD11 [HSA:83451] [KO:K13703]
 TRIM50 [HSA:135892] [KO:K12024]
 VPS37D [HSA:155382] [KO:K12185]
 WBSCR22 [HSA:114049] [KO:K19306]
 WBSCR16 [HSA:64409] [KO:K00710]
 WBSCR17 [HSA:81554] [KO:K23495]
 WBSCR27 [HSA:155368] [KO:K24419]
 WBSCR28 [HSA:135886]",,,,,,"ICD-11: LD44.70
 ICD-10: Q93.8
 MeSH: D018980
 OMIM: 194050","PMID:20089974
 著者        Pober BR
 タイトル      Williams-Beuren syndrome.
 雑誌        N Engl J Med 362:239-52 (2010)
 DOI:10.1056/NEJMra0903074
 PMID:23401415
 著者        Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M
 タイトル      Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
 雑誌        Am J Med Genet A 161A:527-33 (2013)
 DOI:10.1002/ajmg.a.35784
 PMID:21655442
 著者        Matsumoto N, Kitani R, Kalinec F
 タイトル      Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome.
 雑誌        Commun Integr Biol 4:208-10 (2011)
 DOI:10.4161/cib.4.2.14491
 PMID:22608712
 著者        Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF
 タイトル      The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
 雑誌        Am J Hum Genet 90:1071-8 (2012)
 DOI:10.1016/j.ajhg.2012.04.020
 PMID:23018576
 著者        Zhukova N, Naqvi A
 タイトル      Williams-Beuren Syndrome and Burkitt Leukemia.
 雑誌        J Pediatr Hematol Oncol 35:e30-2 (2013)
 DOI:10.1097/MPH.0b013e318270672f
 PMID:12073013
 著者        Merla G, Ucla C, Guipponi M, Reymond A
 タイトル      Identification of additional transcripts in the Williams-Beuren syndrome critical region.
 雑誌        Hum Genet 110:429-38 (2002)
 DOI:10.1007/s00439-002-0710-x
 PMID:11124535
 著者        Doyle JL, DeSilva U, Miller W, Green ED
 タイトル      Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.
 雑誌        Cytogenet Cell Genet 90:285-90 (2000)
 DOI:10.1159/000056790
 PMID:11978965
 著者        Doll A, Grzeschik KH
 タイトル      Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
 雑誌        Cytogenet Cell Genet 95:20-7 (2001)
 DOI:10.1159/000057012
 PMID:18398435
 著者        Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A
 タイトル      Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
 雑誌        Eur J Hum Genet 16:1038-49 (2008)
 DOI:10.1038/ejhg.2008.68","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01439"">H01439</a>",ウィリアムズ症候群,"Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include congenital vascular and heart disease, characteristic facial features, premature aging, generally mild mental retardation, short stature, myopathy, hypercalcemia, and a unique cognitive profile. To date at least 28 genes have been identified within the deleted region.",,"ELN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2006"">2006</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14211"">K14211</a>]
 LIMK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3984"">3984</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05743"">K05743</a>]
 CLIP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7461"">7461</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10422"">K10422</a>]
 RFC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5982"">5982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10755"">K10755</a>]
 BCL7B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9275"">9275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25605"">K25605</a>]
 GTF2I [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2969"">2969</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03121"">K03121</a>]
 GTF2IRD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9569"">9569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03121"">K03121</a>]
 EIF4H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7458"">7458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24086"">K24086</a>]
 TBL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26608"">26608</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23325"">K23325</a>]
 MLXIPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51085"">51085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09113"">K09113</a>]
 FKBP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8468"">8468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09572"">K09572</a>]
 BAZ1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9031"">9031</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11658"">K11658</a>]
 CLDN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1365"">1365</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 CLDN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1364"">1364</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]
 DNAJC30 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84277"">84277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19374"">K19374</a>]
 LAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7462"">7462</a>]
 FZD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8326"">8326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02842"">K02842</a>]
 STX1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6804"">6804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04560"">K04560</a>]
 SPDYE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285955"">285955</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08694"">K08694</a>]
 NSUN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55695"">55695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15264"">K15264</a>]
 ABHD11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83451"">83451</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13703"">K13703</a>]
 TRIM50 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:135892"">135892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12024"">K12024</a>]
 VPS37D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:155382"">155382</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12185"">K12185</a>]
 WBSCR22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114049"">114049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19306"">K19306</a>]
 WBSCR16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64409"">64409</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00710"">K00710</a>]
 WBSCR17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81554"">81554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23495"">K23495</a>]
 WBSCR27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:155368"">155368</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24419"">K24419</a>]
 WBSCR28 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:135886"">135886</a>]",,,,,,"ICD-11: LD44.70
 ICD-10: Q93.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018980"">D018980</a>
 OMIM: <a href=""https://www.omim.org/entry/194050"">194050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20089974"">20089974</a>
 著者        Pober BR
 タイトル      Williams-Beuren syndrome.
 雑誌        N Engl J Med 362:239-52 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0903074"">10.1056/NEJMra0903074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23401415"">23401415</a>
 著者        Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M
 タイトル      Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
 雑誌        Am J Med Genet A 161A:527-33 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35784"">10.1002/ajmg.a.35784</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21655442"">21655442</a>
 著者        Matsumoto N, Kitani R, Kalinec F
 タイトル      Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome.
 雑誌        Commun Integr Biol 4:208-10 (2011)
 DOI:<a href=""https://doi.org/10.4161/cib.4.2.14491"">10.4161/cib.4.2.14491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22608712"">22608712</a>
 著者        Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF
 タイトル      The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
 雑誌        Am J Hum Genet 90:1071-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.04.020"">10.1016/j.ajhg.2012.04.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23018576"">23018576</a>
 著者        Zhukova N, Naqvi A
 タイトル      Williams-Beuren Syndrome and Burkitt Leukemia.
 雑誌        J Pediatr Hematol Oncol 35:e30-2 (2013)
 DOI:<a href=""https://doi.org/10.1097/MPH.0b013e318270672f"">10.1097/MPH.0b013e318270672f</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12073013"">12073013</a>
 著者        Merla G, Ucla C, Guipponi M, Reymond A
 タイトル      Identification of additional transcripts in the Williams-Beuren syndrome critical region.
 雑誌        Hum Genet 110:429-38 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0710-x"">10.1007/s00439-002-0710-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11124535"">11124535</a>
 著者        Doyle JL, DeSilva U, Miller W, Green ED
 タイトル      Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.
 雑誌        Cytogenet Cell Genet 90:285-90 (2000)
 DOI:<a href=""https://doi.org/10.1159/000056790"">10.1159/000056790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11978965"">11978965</a>
 著者        Doll A, Grzeschik KH
 タイトル      Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
 雑誌        Cytogenet Cell Genet 95:20-7 (2001)
 DOI:<a href=""https://doi.org/10.1159/000057012"">10.1159/000057012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18398435"">18398435</a>
 著者        Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A
 タイトル      Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
 雑誌        Eur J Hum Genet 16:1038-49 (2008)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.68"">10.1038/ejhg.2008.68</a>"
H01440,"急性壊死性潰瘍性歯肉炎;
 ワンサン歯肉炎;
 ワンサン口峡炎;
 ざんごう口腔炎
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Acute necrotizing ulcerative gingivitis, also known as Trench mouth, Vincent angina and Vincent gingivitis is an acute bacterial infection of the gingiva caused by spirochetes, fusiform bacteria, or an overgrowth of normal oral flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting gingivitis, extreme stress, or lack of sleep. If the symptom progresses, the periodontium may be destroyed. Possible systemic manifestations include fever, anorexia, weakness, and fatigue.",感染症,,,"Fusobacterium nucleatum
 Fusobacterium fusiforme
 Fusobacterium periodonticurm
 Fusobacterium naviforme
 Fusobacterium alocis
 Fusobacterium sulci
 Leptotrichia buccalis
 Borrelia vincentii",,,,,"ICD-11: 1C1H
 ICD-10: A69.1 K05
 MeSH: D005892
 MedlinePlus: 001044","PMID:2196849 (description, pathogen)
 著者        Holbrook WP, Cawson RA
 タイトル      The problem of the taxonomy of the fusiform bacillus of acute necrotizing ulcerative gingivitis (Vincent's gingivitis).
 雑誌        Antonie Van Leeuwenhoek 57:55-8 (1990)
 DOI:10.1007/BF00400337
 PMID:21248581 (description, pathogen)
 著者        Carlson DS, Pfadt E
 タイトル      Vincent and Ludwig angina: two damaging oral infections.
 雑誌        Nursing 41:55-8 (2011)
 DOI:10.1097/01.NURSE.0000392916.76411.2f","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01440"">H01440</a>","急性壊死性潰瘍性歯肉炎;
 ワンサン歯肉炎;
 ワンサン口峡炎;
 ざんごう口腔炎
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Acute necrotizing ulcerative gingivitis, also known as Trench mouth, Vincent angina and Vincent gingivitis is an acute bacterial infection of the gingiva caused by spirochetes, fusiform bacteria, or an overgrowth of normal oral flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting gingivitis, extreme stress, or lack of sleep. If the symptom progresses, the periodontium may be destroyed. Possible systemic manifestations include fever, anorexia, weakness, and fatigue.",,,"Fusobacterium nucleatum
 Fusobacterium fusiforme
 Fusobacterium periodonticurm
 Fusobacterium naviforme
 Fusobacterium alocis
 Fusobacterium sulci
 Leptotrichia buccalis
 Borrelia vincentii",,,,,"ICD-11: 1C1H
 ICD-10: A69.1 K05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005892"">D005892</a>
 MedlinePlus: 001044","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2196849"">2196849</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Holbrook WP, Cawson RA
 タイトル      The problem of the taxonomy of the fusiform bacillus of acute necrotizing ulcerative gingivitis (Vincent's gingivitis).
 雑誌        Antonie Van Leeuwenhoek 57:55-8 (1990)
 DOI:<a href=""https://doi.org/10.1007/BF00400337"">10.1007/BF00400337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248581"">21248581</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Carlson DS, Pfadt E
 タイトル      Vincent and Ludwig angina: two damaging oral infections.
 雑誌        Nursing 41:55-8 (2011)
 DOI:<a href=""https://doi.org/10.1097/01.NURSE.0000392916.76411.2f"">10.1097/01.NURSE.0000392916.76411.2f</a>"
H01441,緑膿菌感染症,,,"Pseudomonas aeruginosa is a leading cause of nosocomial bloodstream infections, ranking third among gram-negative bacteria, after Escherichia coli and Klebsiella species. Intrinsic resistance has been traditionally attributed to the low permeability of cellular envelopes together with the presence of chromosomally-encoded detoxification systems such as multidrug efflux pumps or antibiotic inactivating enzymes. Some strains acquire increased resistance via the horizontal transfer of resistance determinants and mutations in chromosomal genes.",感染症,,,Pseudomonas aeruginosa [GN:pae pau pag pdk paep pael paes paec],,,,,"ICD-11: 1C41 CA40.05
 ICD-10: A49.8 J15.1
 MeSH: D011552","PMID:17876002
 著者        Henrichfreise B, Wiegand I, Pfister W, Wiedemann B
 タイトル      Resistance mechanisms of multiresistant Pseudomonas aeruginosa strains from Germany and correlation with hypermutation.
 雑誌        Antimicrob Agents Chemother 51:4062-70 (2007)
 DOI:10.1128/AAC.00148-07
 PMID:21304266
 著者        Alvarez-Ortega C, Wiegand I, Olivares J, Hancock RE, Martinez JL
 タイトル      The intrinsic resistome of Pseudomonas aeruginosa to beta-lactams.
 雑誌        Virulence 2:144-6 (2011)
 DOI:10.4161/viru.2.2.15014
 PMID:11692297
 著者        El Amari EB, Chamot E, Auckenthaler R, Pechere JC, Van Delden C
 タイトル      Influence of previous exposure to antibiotic therapy on the susceptibility pattern of Pseudomonas aeruginosa bacteremic isolates.
 雑誌        Clin Infect Dis 33:1859-64 (2001)
 DOI:10.1086/324346","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01441"">H01441</a>",緑膿菌感染症,"Pseudomonas aeruginosa is a leading cause of nosocomial bloodstream infections, ranking third among gram-negative bacteria, after Escherichia coli and Klebsiella species. Intrinsic resistance has been traditionally attributed to the low permeability of cellular envelopes together with the presence of chromosomally-encoded detoxification systems such as multidrug efflux pumps or antibiotic inactivating enzymes. Some strains acquire increased resistance via the horizontal transfer of resistance determinants and mutations in chromosomal genes.",,,"Pseudomonas aeruginosa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pae"">pae</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pau"">pau</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pag"">pag</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pdk"">pdk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:paep"">paep</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pael"">pael</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:paes"">paes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:paec"">paec</a>]",,,,,"ICD-11: 1C41 CA40.05
 ICD-10: A49.8 J15.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011552"">D011552</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17876002"">17876002</a>
 著者        Henrichfreise B, Wiegand I, Pfister W, Wiedemann B
 タイトル      Resistance mechanisms of multiresistant Pseudomonas aeruginosa strains from Germany and correlation with hypermutation.
 雑誌        Antimicrob Agents Chemother 51:4062-70 (2007)
 DOI:<a href=""https://doi.org/10.1128/AAC.00148-07"">10.1128/AAC.00148-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21304266"">21304266</a>
 著者        Alvarez-Ortega C, Wiegand I, Olivares J, Hancock RE, Martinez JL
 タイトル      The intrinsic resistome of Pseudomonas aeruginosa to beta-lactams.
 雑誌        Virulence 2:144-6 (2011)
 DOI:<a href=""https://doi.org/10.4161/viru.2.2.15014"">10.4161/viru.2.2.15014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11692297"">11692297</a>
 著者        El Amari EB, Chamot E, Auckenthaler R, Pechere JC, Van Delden C
 タイトル      Influence of previous exposure to antibiotic therapy on the susceptibility pattern of Pseudomonas aeruginosa bacteremic isolates.
 雑誌        Clin Infect Dis 33:1859-64 (2001)
 DOI:<a href=""https://doi.org/10.1086/324346"">10.1086/324346</a>"
H01442,"敗血症性関節炎;
 化膿性関節炎",,,"Septic arthritis is defined as a purulent infection in a joint cavity. The infection commonly reaches the joint in children by hematogenous spread or by direct extension of pathogenic bacteria. Staphylococcus aureus, Haemophilus influenzae type-b, and Group A Streptococcus, Streptococcus pneumoniae, Kingela kingae, Neisseria meningiditis and Salmonella spp. are the predominant anaerobic bacteria that cause arthritis in children. One of the most predominant aetiologic agent of septic arthritis in all age groups is Staphylococcus aureus. Also, Gonococcal arthritis can occur in sexually active adolescents.",感染症,,,"Staphylococcus aureus [GN:sam]
 Streptococcus pneumoniae
 Haemophilus influenza
 Kingela kingae
 Neisseria meningiditis
 Salmonella spp.
 Escherichia coli
 Pseudomonas aeruginosa
 Neisseria gonorrhea",,,,,"ICD-11: FA10
 ICD-10: M00.9
 MeSH: D001170
 MedlinePlus: 000430","PMID:12528083 (pathogen)
 著者        Bar-Natan M, Salai M, Sidi Y, Gur H
 タイトル      Sternoclavicular infectious arthritis in previously healthy adults.
 雑誌        Semin Arthritis Rheum 32:189-95 (2002)
 DOI:10.1053/sarh.2002.37284
 PMID:12396847
 著者        Brook I
 タイトル      Joint and bone infections due to anaerobic bacteria in children.
 雑誌        Pediatr Rehabil 5:11-9 (2002)
 DOI:10.1080/1363849021000007150","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01442"">H01442</a>","敗血症性関節炎;
 化膿性関節炎","Septic arthritis is defined as a purulent infection in a joint cavity. The infection commonly reaches the joint in children by hematogenous spread or by direct extension of pathogenic bacteria. Staphylococcus aureus, Haemophilus influenzae type-b, and Group A Streptococcus, Streptococcus pneumoniae, Kingela kingae, Neisseria meningiditis and Salmonella spp. are the predominant anaerobic bacteria that cause arthritis in children. One of the most predominant aetiologic agent of septic arthritis in all age groups is Staphylococcus aureus. Also, Gonococcal arthritis can occur in sexually active adolescents.",,,"Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sam"">sam</a>]
 Streptococcus pneumoniae
 Haemophilus influenza
 Kingela kingae
 Neisseria meningiditis
 Salmonella spp.
 Escherichia coli
 Pseudomonas aeruginosa
 Neisseria gonorrhea",,,,,"ICD-11: FA10
 ICD-10: M00.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001170"">D001170</a>
 MedlinePlus: 000430","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12528083"">12528083</a> (pathogen)
 著者        Bar-Natan M, Salai M, Sidi Y, Gur H
 タイトル      Sternoclavicular infectious arthritis in previously healthy adults.
 雑誌        Semin Arthritis Rheum 32:189-95 (2002)
 DOI:<a href=""https://doi.org/10.1053/sarh.2002.37284"">10.1053/sarh.2002.37284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12396847"">12396847</a>
 著者        Brook I
 タイトル      Joint and bone infections due to anaerobic bacteria in children.
 雑誌        Pediatr Rehabil 5:11-9 (2002)
 DOI:<a href=""https://doi.org/10.1080/1363849021000007150"">10.1080/1363849021000007150</a>"
H01443,"緑色レンサ球菌感染症;
 ビリダンス群レンサ球菌感染症",,,"The viridans group streptococci (VGS), a heterogenous group of streptococcal species, are the predominant species of the human oral flora and commonly inhabit other areas of the upper respiratory, gastrointestinal, and female genital tracts. VGS are usually organisms of low virulence. However, VGS are a major cause of sepsis and pneumonia in neutropenic individuals, and an important cause of sepsis and meningitis in neonates. These organisms are also occasional pathogens in healthy children and adults, causing infections such as subacute endocarditis. Although VGS resistance to penicillin and the macrolide-lincosamide-streptogramin B (MLS) drugs is an evolving problem, several drugs remain uniformly active against the VGS. Thus far, VGS resistance to vancomycin, linezolid, and daptomycin remains extremely rare.",感染症,,,"Streptococcus mitis
 Streptococcus pseudopneumoniae [GN:std]
 Streptococcus sanguinis [GN:ssa]
 Streptococcus parasanguinis [GN:scf]
 Streptococcus gordonii [GN:sgo]
 Streptococcus constellatus [GN:scg scon scos]
 Streptococcus ilei [GN:sig sip]
 Streptococcus intermedius [GN:sib siu]
 Streptococcus anginosus [GN:sang sanc sans]
 Streptococcus mutans [GN:smu smc smut smj]
 Streptococcus sobrinus
 Streptococcus salivarius [GN:ssr stf]
 Streptococcus vestibularis
 Streptococcus thermophilus
 Streptococcus equinus
 Streptococcus gallolyticus [GN:sga sgg sgt]
 Streptococcus infantarius",,,,,"ICD-10: A49.1 B95.4
 MeSH: D013290","PMID:20810781 (description, pathogen)
 著者        Doern CD, Burnham CA
 タイトル      It's not easy being green: the viridans group streptococci, with a focus on pediatric clinical manifestations.
 雑誌        J Clin Microbiol 48:3829-35 (2010)
 DOI:10.1128/JCM.01563-10
 PMID:10720803 (description, pathogen)
 著者        Shenep JL
 タイトル      Viridans-group streptococcal infections in immunocompromised hosts.
 雑誌        Int J Antimicrob Agents 14:129-35 (2000)
 DOI:10.1016/S0924-8579(99)00172-7
 PMID:17588233 (pathogen)
 著者        Reilly AF, Lange BJ
 タイトル      Infections with viridans group streptococci in children with cancer.
 雑誌        Pediatr Blood Cancer 49:774-80 (2007)
 DOI:10.1002/pbc.21250","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01443"">H01443</a>","緑色レンサ球菌感染症;
 ビリダンス群レンサ球菌感染症","The viridans group streptococci (VGS), a heterogenous group of streptococcal species, are the predominant species of the human oral flora and commonly inhabit other areas of the upper respiratory, gastrointestinal, and female genital tracts. VGS are usually organisms of low virulence. However, VGS are a major cause of sepsis and pneumonia in neutropenic individuals, and an important cause of sepsis and meningitis in neonates. These organisms are also occasional pathogens in healthy children and adults, causing infections such as subacute endocarditis. Although VGS resistance to penicillin and the macrolide-lincosamide-streptogramin B (MLS) drugs is an evolving problem, several drugs remain uniformly active against the VGS. Thus far, VGS resistance to vancomycin, linezolid, and daptomycin remains extremely rare.",,,"Streptococcus mitis
 Streptococcus pseudopneumoniae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:std"">std</a>]
 Streptococcus sanguinis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssa"">ssa</a>]
 Streptococcus parasanguinis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:scf"">scf</a>]
 Streptococcus gordonii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sgo"">sgo</a>]
 Streptococcus constellatus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:scg"">scg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:scon"">scon</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:scos"">scos</a>]
 Streptococcus ilei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sig"">sig</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sip"">sip</a>]
 Streptococcus intermedius [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sib"">sib</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:siu"">siu</a>]
 Streptococcus anginosus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sang"">sang</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sanc"">sanc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sans"">sans</a>]
 Streptococcus mutans [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smu"">smu</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smc"">smc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smut"">smut</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:smj"">smj</a>]
 Streptococcus sobrinus
 Streptococcus salivarius [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssr"">ssr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stf"">stf</a>]
 Streptococcus vestibularis
 Streptococcus thermophilus
 Streptococcus equinus
 Streptococcus gallolyticus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sga"">sga</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sgg"">sgg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sgt"">sgt</a>]
 Streptococcus infantarius",,,,,"ICD-10: A49.1 B95.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013290"">D013290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20810781"">20810781</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Doern CD, Burnham CA
 タイトル      It's not easy being green: the viridans group streptococci, with a focus on pediatric clinical manifestations.
 雑誌        J Clin Microbiol 48:3829-35 (2010)
 DOI:<a href=""https://doi.org/10.1128/JCM.01563-10"">10.1128/JCM.01563-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10720803"">10720803</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Shenep JL
 タイトル      Viridans-group streptococcal infections in immunocompromised hosts.
 雑誌        Int J Antimicrob Agents 14:129-35 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0924-8579(99)00172-7"">10.1016/S0924-8579(99)00172-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17588233"">17588233</a> (pathogen)
 著者        Reilly AF, Lange BJ
 タイトル      Infections with viridans group streptococci in children with cancer.
 雑誌        Pediatr Blood Cancer 49:774-80 (2007)
 DOI:<a href=""https://doi.org/10.1002/pbc.21250"">10.1002/pbc.21250</a>"
H01444,腸球菌感染症,,,"Enterococci are Gram-positive, catalase-negative, non-spore-forming, facultative anaerobic bacteria, which usually inhabit the alimentary tract of humans in addition to being isolated from environmental and animal sources. The species of the greatest clinical importance are Enterococcus faecalis and Enterococcus faecium. Enterococcal infections include urinary tract infections, hepatobiliary sepsis, endocarditis, surgical wound infection, bacteraemia and neonatal sepsis.",感染症,,,"Enterococcus faecalis
 Enterococcus faecium
 Enterococcus avium [GN:eav]",,,,,ICD-10: A41 I39 N39,"PMID:24585051
 著者        Yuen GJ, Ausubel FM
 タイトル      Enterococcus infection biology: lessons from invertebrate host models.
 雑誌        J Microbiol 52:200-10 (2014)
 DOI:10.1007/s12275-014-4011-6
 PMID:19383684
 著者        Fisher K, Phillips C
 タイトル      The ecology, epidemiology and virulence of Enterococcus.
 雑誌        Microbiology 155:1749-57 (2009)
 DOI:10.1099/mic.0.026385-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01444"">H01444</a>",腸球菌感染症,"Enterococci are Gram-positive, catalase-negative, non-spore-forming, facultative anaerobic bacteria, which usually inhabit the alimentary tract of humans in addition to being isolated from environmental and animal sources. The species of the greatest clinical importance are Enterococcus faecalis and Enterococcus faecium. Enterococcal infections include urinary tract infections, hepatobiliary sepsis, endocarditis, surgical wound infection, bacteraemia and neonatal sepsis.",,,"Enterococcus faecalis
 Enterococcus faecium
 Enterococcus avium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:eav"">eav</a>]",,,,,ICD-10: A41 I39 N39,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24585051"">24585051</a>
 著者        Yuen GJ, Ausubel FM
 タイトル      Enterococcus infection biology: lessons from invertebrate host models.
 雑誌        J Microbiol 52:200-10 (2014)
 DOI:<a href=""https://doi.org/10.1007/s12275-014-4011-6"">10.1007/s12275-014-4011-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19383684"">19383684</a>
 著者        Fisher K, Phillips C
 タイトル      The ecology, epidemiology and virulence of Enterococcus.
 雑誌        Microbiology 155:1749-57 (2009)
 DOI:<a href=""https://doi.org/10.1099/mic.0.026385-0"">10.1099/mic.0.026385-0</a>"
H01445,"尋常性座瘡;
 にきび
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"Acne is a chronic inflammatory disease of the pilosebaceous unit resulting from androgen-induced increased sebum production, altered keratinization, inflammation, and bacterial colonization of hair follicles on the face, neck, chest, and back by Propionibacterium acnes. P. acnes is a Gram-positive bacterium that forms part of the normal flora of the skin, oral cavity, large intestine, the conjunctiva and the external ear canal. Although P. acnes is primarily recognized for its role in acne, it's also famous as an opportunistic pathogen causing a range of postoperative and device-related infections.",感染症,,,Propionibacterium acnes [GN:pac pach],,,"トスフロキサシントシル酸塩水和物 [DR:D01996]
 フラビンアデニンジヌクレオチドナトリウム [DR:D02011]
 レゾルシン [DR:D00133]
 酸化亜鉛 [DR:D01170]
 クリンダマイシンリン酸エステル [DR:D01073]
 オゼノキサシン [DR:D09544]
 ナジフロキサシン [DR:D01147]
 イブプロフェンピコノール [DR:D01122]
 水酸化カルシウム [DR:D01083]
 イオウ [DR:D00024]
 イオウ・カンフル [DR:D04811]
 アダパレン [DR:D01112]
 アダパレン・過酸化ベンゾイル [DR:D10792]
 過酸化ベンゾイル [DR:D03093]
 クリンダマイシンリン酸エステル・過酸化ベンゾイル [DR:D10602]
 リボフラビンリン酸エステルナトリウム [DR:D01622]
 ピリドキサールリン酸エステル水和物 [DR:D00006]
 ビオチン [DR:D00029]
 L-システイン [DR:D00026]
 荊芥連翹湯 [DR:D06938]
 桂枝茯苓丸料加薏苡仁 [DR:D06950]
 十味敗毒湯 [DR:D06982]
 清上防風湯 [DR:D06996]
 大黄牡丹皮湯 [DR:D07002]
 当帰芍薬散エキス [DR:D07021]
 ロキシスロマイシン [DR:D01710]",,"ICD-11: ED80
 ICD-10: L70.0
 MeSH: D000152
 MedlinePlus: 000873","PMID:21880356
 著者        Williams HC, Dellavalle RP, Garner S
 タイトル      Acne vulgaris.
 雑誌        Lancet 379:361-72 (2012)
 DOI:10.1016/S0140-6736(11)60321-8
 PMID:22114965
 著者        Perry A, Lambert P
 タイトル      Propionibacterium acnes: infection beyond the skin.
 雑誌        Expert Rev Anti Infect Ther 9:1149-56 (2011)
 DOI:10.1586/eri.11.137","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01445"">H01445</a>","尋常性座瘡;
 にきび
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","Acne is a chronic inflammatory disease of the pilosebaceous unit resulting from androgen-induced increased sebum production, altered keratinization, inflammation, and bacterial colonization of hair follicles on the face, neck, chest, and back by Propionibacterium acnes. P. acnes is a Gram-positive bacterium that forms part of the normal flora of the skin, oral cavity, large intestine, the conjunctiva and the external ear canal. Although P. acnes is primarily recognized for its role in acne, it's also famous as an opportunistic pathogen causing a range of postoperative and device-related infections.",,,"Propionibacterium acnes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pac"">pac</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pach"">pach</a>]",,,"トスフロキサシントシル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01996"">D01996</a>]
 フラビンアデニンジヌクレオチドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02011"">D02011</a>]
 レゾルシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00133"">D00133</a>]
 酸化亜鉛 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01170"">D01170</a>]
 クリンダマイシンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01073"">D01073</a>]
 オゼノキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09544"">D09544</a>]
 ナジフロキサシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01147"">D01147</a>]
 イブプロフェンピコノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01122"">D01122</a>]
 水酸化カルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01083"">D01083</a>]
 イオウ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00024"">D00024</a>]
 イオウ・カンフル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04811"">D04811</a>]
 アダパレン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01112"">D01112</a>]
 アダパレン・過酸化ベンゾイル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10792"">D10792</a>]
 過酸化ベンゾイル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03093"">D03093</a>]
 クリンダマイシンリン酸エステル・過酸化ベンゾイル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10602"">D10602</a>]
 リボフラビンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01622"">D01622</a>]
 ピリドキサールリン酸エステル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00006"">D00006</a>]
 ビオチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00029"">D00029</a>]
 L-システイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00026"">D00026</a>]
 荊芥連翹湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06938"">D06938</a>]
 桂枝茯苓丸料加薏苡仁 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06950"">D06950</a>]
 十味敗毒湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06982"">D06982</a>]
 清上防風湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06996"">D06996</a>]
 大黄牡丹皮湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07002"">D07002</a>]
 当帰芍薬散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07021"">D07021</a>]
 ロキシスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01710"">D01710</a>]",,"ICD-11: ED80
 ICD-10: L70.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000152"">D000152</a>
 MedlinePlus: 000873","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21880356"">21880356</a>
 著者        Williams HC, Dellavalle RP, Garner S
 タイトル      Acne vulgaris.
 雑誌        Lancet 379:361-72 (2012)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(11)60321-8"">10.1016/S0140-6736(11)60321-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22114965"">22114965</a>
 著者        Perry A, Lambert P
 タイトル      Propionibacterium acnes: infection beyond the skin.
 雑誌        Expert Rev Anti Infect Ther 9:1149-56 (2011)
 DOI:<a href=""https://doi.org/10.1586/eri.11.137"">10.1586/eri.11.137</a>"
H01446,"Propionibacterium acnes 感染
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"The anaerobic Gram-positive bacterium Propionibacterium acnes which forms part of the normal resident human microbiota of the skin, oral cavity, and gastrointestinal and genitourinary tracts. The organism is an opportunistic pathogen most widely known for its association with acne vulgaris but it also causes bacterial keratitis and endophthalmitis after ophthalmic surgery, and is increasingly recognized as a significant cause of medical device-related infections.",感染症,,,Propionibacterium acnes [GN:pav pax paz paw pad],,,,See also H01445 Acne vulgaris.,,"PMID:15286373
 著者        Bruggemann H, Henne A, Hoster F, Liesegang H, Wiezer A, Strittmatter A, Hujer S, Durre P, Gottschalk G.
 タイトル      The complete genome sequence of Propionibacterium acnes, a commensal of human skin.
 雑誌        Science 305:671-3 (2004)
 DOI:10.1126/science.1100330
 PMID:21511767
 著者        McDowell A, Gao A, Barnard E, Fink C, Murray PI, Dowson CG, Nagy I, Lambert PA, Patrick S
 タイトル      A novel multilocus sequence typing scheme for the opportunistic pathogen Propionibacterium acnes and characterization of type I cell surface-associated antigens.
 雑誌        Microbiology 157:1990-2003 (2011)
 DOI:10.1099/mic.0.049676-0
 PMID:22374954
 著者        Voros A, Horvath B, Hunyadkurti J, McDowell A, Barnard E, Patrick S, Nagy I
 タイトル      Complete genome sequences of three Propionibacterium acnes isolates from the type IA(2) cluster.
 雑誌        J Bacteriol 194:1621-2 (2012)
 DOI:10.1128/JB.06758-11","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01446"">H01446</a>","Propionibacterium acnes 感染
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","The anaerobic Gram-positive bacterium Propionibacterium acnes which forms part of the normal resident human microbiota of the skin, oral cavity, and gastrointestinal and genitourinary tracts. The organism is an opportunistic pathogen most widely known for its association with acne vulgaris but it also causes bacterial keratitis and endophthalmitis after ophthalmic surgery, and is increasingly recognized as a significant cause of medical device-related infections.",,,"Propionibacterium acnes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pav"">pav</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pax"">pax</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:paz"">paz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:paw"">paw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:pad"">pad</a>]",,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01445"">H01445</a> Acne vulgaris.",,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15286373"">15286373</a>
 著者        Bruggemann H, Henne A, Hoster F, Liesegang H, Wiezer A, Strittmatter A, Hujer S, Durre P, Gottschalk G.
 タイトル      The complete genome sequence of Propionibacterium acnes, a commensal of human skin.
 雑誌        Science 305:671-3 (2004)
 DOI:<a href=""https://doi.org/10.1126/science.1100330"">10.1126/science.1100330</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21511767"">21511767</a>
 著者        McDowell A, Gao A, Barnard E, Fink C, Murray PI, Dowson CG, Nagy I, Lambert PA, Patrick S
 タイトル      A novel multilocus sequence typing scheme for the opportunistic pathogen Propionibacterium acnes and characterization of type I cell surface-associated antigens.
 雑誌        Microbiology 157:1990-2003 (2011)
 DOI:<a href=""https://doi.org/10.1099/mic.0.049676-0"">10.1099/mic.0.049676-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22374954"">22374954</a>
 著者        Voros A, Horvath B, Hunyadkurti J, McDowell A, Barnard E, Patrick S, Nagy I
 タイトル      Complete genome sequences of three Propionibacterium acnes isolates from the type IA(2) cluster.
 雑誌        J Bacteriol 194:1621-2 (2012)
 DOI:<a href=""https://doi.org/10.1128/JB.06758-11"">10.1128/JB.06758-11</a>"
H01447,身体醜形障害,,,"Body dysmorphic disorder (BDD) is a psychiatric disorder in which individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized by time-consuming behaviors such as mirror gazing, comparing one's appearance with the appearance of others, excessive camouflaging to hide the defect, and seeking reassurance. Patients experience significant distress, disability, and functional impairment, often accompanied by depression and suicidality. There is some clinical and pathologic overlap between obsessive-compulsive disorder (OCD) and BDD such as obsessive thoughts and the performance of ritual behavior. Patients with BDD respond to treatment with serotonergic agents such as clomipramine or selective serotonin reuptake inhibitors (SSRIs), which suggests a dysfunction of central serotonergic neurotransmission as a possible etiological factor. A recent study suggests that cognitive-behavior therapy (CBT) was more effective than treatment with medications.",精神及び行動の障害,,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B21
 ICD-10: F45.2
 MeSH: D057215","PMID:26345330
 著者        Frias A, Palma C, Farriols N, Gonzalez L
 タイトル      Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization.
 雑誌        Neuropsychiatr Dis Treat 11:2233-44 (2015)
 DOI:10.2147/NDT.S67636
 PMID:18224271
 著者        Pavan C, Simonato P, Marini M, Mazzoleni F, Pavan L, Vindigni V
 タイトル      Psychopathologic aspects of body dysmorphic disorder: a literature review.
 雑誌        Aesthetic Plast Surg 32:473-84 (2008)
 DOI:10.1007/s00266-008-9113-2
 PMID:25419211
 著者        Li W, Arienzo D, Feusner JD
 タイトル      Body Dysmorphic Disorder: Neurobiological Features and an Updated Model.
 雑誌        Z Klin Psychol Psychother (Gott) 42:184-191 (2013)
 DOI:10.1026/1616-3443/a000213
 PMID:11926939 (Drug)
 著者        Phillips KA, Albertini RS, Rasmussen SA
 タイトル      A randomized placebo-controlled trial of fluoxetine in body dysmorphic disorder.
 雑誌        Arch Gen Psychiatry 59:381-8 (2002)
 DOI:10.1001/archpsyc.59.4.381
 PMID:23459093
 著者        Hofmann SG, Asnaani A, Vonk IJ, Sawyer AT, Fang A
 タイトル      The Efficacy of Cognitive Behavioral Therapy: A Review of Meta-analyses.
 雑誌        Cognit Ther Res 36:427-440 (2012)
 DOI:10.1007/s10608-012-9476-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01447"">H01447</a>",身体醜形障害,"Body dysmorphic disorder (BDD) is a psychiatric disorder in which individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized by time-consuming behaviors such as mirror gazing, comparing one's appearance with the appearance of others, excessive camouflaging to hide the defect, and seeking reassurance. Patients experience significant distress, disability, and functional impairment, often accompanied by depression and suicidality. There is some clinical and pathologic overlap between obsessive-compulsive disorder (OCD) and BDD such as obsessive thoughts and the performance of ritual behavior. Patients with BDD respond to treatment with serotonergic agents such as clomipramine or selective serotonin reuptake inhibitors (SSRIs), which suggests a dysfunction of central serotonergic neurotransmission as a possible etiological factor. A recent study suggests that cognitive-behavior therapy (CBT) was more effective than treatment with medications.",,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B21
 ICD-10: F45.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057215"">D057215</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26345330"">26345330</a>
 著者        Frias A, Palma C, Farriols N, Gonzalez L
 タイトル      Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization.
 雑誌        Neuropsychiatr Dis Treat 11:2233-44 (2015)
 DOI:<a href=""https://doi.org/10.2147/NDT.S67636"">10.2147/NDT.S67636</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18224271"">18224271</a>
 著者        Pavan C, Simonato P, Marini M, Mazzoleni F, Pavan L, Vindigni V
 タイトル      Psychopathologic aspects of body dysmorphic disorder: a literature review.
 雑誌        Aesthetic Plast Surg 32:473-84 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00266-008-9113-2"">10.1007/s00266-008-9113-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25419211"">25419211</a>
 著者        Li W, Arienzo D, Feusner JD
 タイトル      Body Dysmorphic Disorder: Neurobiological Features and an Updated Model.
 雑誌        Z Klin Psychol Psychother (Gott) 42:184-191 (2013)
 DOI:<a href=""https://doi.org/10.1026/1616-3443/a000213"">10.1026/1616-3443/a000213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11926939"">11926939</a> (Drug)
 著者        Phillips KA, Albertini RS, Rasmussen SA
 タイトル      A randomized placebo-controlled trial of fluoxetine in body dysmorphic disorder.
 雑誌        Arch Gen Psychiatry 59:381-8 (2002)
 DOI:<a href=""https://doi.org/10.1001/archpsyc.59.4.381"">10.1001/archpsyc.59.4.381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23459093"">23459093</a>
 著者        Hofmann SG, Asnaani A, Vonk IJ, Sawyer AT, Fang A
 タイトル      The Efficacy of Cognitive Behavioral Therapy: A Review of Meta-analyses.
 雑誌        Cognit Ther Res 36:427-440 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10608-012-9476-1"">10.1007/s10608-012-9476-1</a>"
H01448,溜め込み障害,,,"Hoarding disorder is characterized by persistent difficulty discarding possessions, regardless of the value others may attribute to these possessions. They accumulate a large number of possessions that often fill up or clutter active living areas of the home or workplace to the extent that their intended use is no longer possible. Previously, hoarding has been treated as a typical obsessive-compulsive disorder (OCD) symptom, using first-line pharmacological and psychological treatments for OCD, however, the results have not been robust. Clinical trial evidence suggests that OCD patients with hoarding symptoms are less responsive to selective serotonin reuptake inhibitors (SSRIs) than those without hoarding symptoms. On the other hand, hoarding and non-hoarding OCD patients fared equally well in one open trial of paroxetine.",精神及び行動の障害,,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), hoarding disorder has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B24
 ICD-10: F42.8
 MeSH: D060845","PMID:8512538
 著者        Frost RO, Gross RC
 タイトル      The hoarding of possessions.
 雑誌        Behav Res Ther 31:367-81 (1993)
 DOI:10.1016/0005-7967(93)90094-B
 PMID:20336805
 著者        Mataix-Cols D, Frost RO, Pertusa A, Clark LA, Saxena S, Leckman JF, Stein DJ, Matsunaga H, Wilhelm S
 タイトル      Hoarding disorder: a new diagnosis for DSM-V?
 雑誌        Depress Anxiety 27:556-72 (2010)
 DOI:10.1002/da.20693
 PMID:24467873
 著者        Morein-Zamir S, Papmeyer M, Pertusa A, Chamberlain SR, Fineberg NA, Sahakian BJ, Mataix-Cols D, Robbins TW
 タイトル      The profile of executive function in OCD hoarders and hoarding disorder.
 雑誌        Psychiatry Res 215:659-67 (2014)
 DOI:10.1016/j.psychres.2013.12.026
 PMID:16824483
 著者        Samuels JF, Bienvenu OJ 3rd, Pinto A, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Greenberg BD, Knowles JA, Piacentini J, Cannistraro PA, Cullen B, Riddle MA, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G
 タイトル      Hoarding in obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study.
 雑誌        Behav Res Ther 45:673-86 (2007)
 DOI:10.1016/j.brat.2006.05.008
 PMID:16790250 (Drug)
 著者        Saxena S, Brody AL, Maidment KM, Baxter LR Jr
 タイトル      Paroxetine treatment of compulsive hoarding.
 雑誌        J Psychiatr Res 41:481-7 (2007)
 DOI:10.1016/j.jpsychires.2006.05.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01448"">H01448</a>",溜め込み障害,"Hoarding disorder is characterized by persistent difficulty discarding possessions, regardless of the value others may attribute to these possessions. They accumulate a large number of possessions that often fill up or clutter active living areas of the home or workplace to the extent that their intended use is no longer possible. Previously, hoarding has been treated as a typical obsessive-compulsive disorder (OCD) symptom, using first-line pharmacological and psychological treatments for OCD, however, the results have not been robust. Clinical trial evidence suggests that OCD patients with hoarding symptoms are less responsive to selective serotonin reuptake inhibitors (SSRIs) than those without hoarding symptoms. On the other hand, hoarding and non-hoarding OCD patients fared equally well in one open trial of paroxetine.",,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), hoarding disorder has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B24
 ICD-10: F42.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D060845"">D060845</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8512538"">8512538</a>
 著者        Frost RO, Gross RC
 タイトル      The hoarding of possessions.
 雑誌        Behav Res Ther 31:367-81 (1993)
 DOI:<a href=""https://doi.org/10.1016/0005-7967(93)90094-B"">10.1016/0005-7967(93)90094-B</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20336805"">20336805</a>
 著者        Mataix-Cols D, Frost RO, Pertusa A, Clark LA, Saxena S, Leckman JF, Stein DJ, Matsunaga H, Wilhelm S
 タイトル      Hoarding disorder: a new diagnosis for DSM-V?
 雑誌        Depress Anxiety 27:556-72 (2010)
 DOI:<a href=""https://doi.org/10.1002/da.20693"">10.1002/da.20693</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24467873"">24467873</a>
 著者        Morein-Zamir S, Papmeyer M, Pertusa A, Chamberlain SR, Fineberg NA, Sahakian BJ, Mataix-Cols D, Robbins TW
 タイトル      The profile of executive function in OCD hoarders and hoarding disorder.
 雑誌        Psychiatry Res 215:659-67 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.psychres.2013.12.026"">10.1016/j.psychres.2013.12.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16824483"">16824483</a>
 著者        Samuels JF, Bienvenu OJ 3rd, Pinto A, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Greenberg BD, Knowles JA, Piacentini J, Cannistraro PA, Cullen B, Riddle MA, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G
 タイトル      Hoarding in obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study.
 雑誌        Behav Res Ther 45:673-86 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.brat.2006.05.008"">10.1016/j.brat.2006.05.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16790250"">16790250</a> (Drug)
 著者        Saxena S, Brody AL, Maidment KM, Baxter LR Jr
 タイトル      Paroxetine treatment of compulsive hoarding.
 雑誌        J Psychiatr Res 41:481-7 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jpsychires.2006.05.001"">10.1016/j.jpsychires.2006.05.001</a>"
H01449,皮膚引っ掻き症,,,"Excoriation Disorder, also known as Skin Picking Disorder, is characterized by the repetitive and compulsive scratching or picking of skin, which causes tissue damage. Patients spend a significant amount of time each day picking their skin, that causes psychosocial impairment. Triggers to pick vary greatly. For example, stress, anxiety, boredom, and feeling tired or angry have all been reported as triggers. Co-occurring psychiatric conditions are common in this disease. The most commonly reported comorbid conditions are trichotillomania, substance dependence, major depressive disorder, anxiety disorders, obsessive compulsive disorder (OCD), and body dysmorphic disorder (BDD). So far, there is no clear neurobiological explanation for the etiology of this disease. Recent research showed bilateral abnormalities in the anterior cingulate cortex and abnormalities on the left temporoparietal junction. Another study has shown deficits in motor inhibition, which appears to be correlated with frontal cortex abnormalities. Furthermore, severity of excoriation disorder may be associated with higher levels of impulsivity. Treatment for this disease has largely focused on cognitive behavioral therapy and pharmacology. Early psychosocial treatment studies provided evidence for skin picking reduction with habit reversal or acceptance-enhanced behavior therapy (AEBT). The data for selective serotonin reuptake inhibitors (SSRIs) efficacy in this disease are not convincing, although some studies suggested that fluoxetine is effective. Tricyclic antidepressants, neuroleptics, and the dopamine-blocking opioid antagonist have also been found to be effective for skin-picking.",精神及び行動の障害,,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), excoriation disorder has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B25.1
 ICD-10: F48.9","PMID:25591046
 著者        Oliveira EC, Leppink EW, Derbyshire KL, Grant JE
 タイトル      Excoriation disorder: impulsivity and its clinical associations.
 雑誌        J Anxiety Disord 30:19-22 (2015)
 DOI:10.1016/j.janxdis.2014.12.010
 PMID:23128921
 著者        Grant JE, Odlaug BL, Chamberlain SR, Keuthen NJ, Lochner C, Stein DJ
 タイトル      Skin picking disorder.
 雑誌        Am J Psychiatry 169:1143-9 (2012)
 DOI:10.1176/appi.ajp.2012.12040508
 PMID:20575652
 著者        Odlaug BL, Grant JE
 タイトル      Pathologic skin picking.
 雑誌        Am J Drug Alcohol Abuse 36:296-303 (2010)
 DOI:10.3109/00952991003747543
 PMID:18334614 (treatment)
 著者        Flessner CA, Busch AM, Heideman PW, Woods DW
 タイトル      Acceptance-enhanced behavior therapy (AEBT) for trichotillomania and chronic skin picking: exploring the effects of component sequencing.
 雑誌        Behav Modif 32:579-94 (2008)
 DOI:10.1177/0145445507313800
 PMID:20694122 (Drug)
 著者        Jafferany M, Shireen F, Ibrahim A
 タイトル      An open-label trial of topiramate in the treatment of skin picking in pervasive developmental disorder not otherwise specified.
 雑誌        Prim Care Companion J Clin Psychiatry 12:PCC.09l00829 (2010)
 DOI:10.4088/PCC.09l00829yel","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01449"">H01449</a>",皮膚引っ掻き症,"Excoriation Disorder, also known as Skin Picking Disorder, is characterized by the repetitive and compulsive scratching or picking of skin, which causes tissue damage. Patients spend a significant amount of time each day picking their skin, that causes psychosocial impairment. Triggers to pick vary greatly. For example, stress, anxiety, boredom, and feeling tired or angry have all been reported as triggers. Co-occurring psychiatric conditions are common in this disease. The most commonly reported comorbid conditions are trichotillomania, substance dependence, major depressive disorder, anxiety disorders, obsessive compulsive disorder (OCD), and body dysmorphic disorder (BDD). So far, there is no clear neurobiological explanation for the etiology of this disease. Recent research showed bilateral abnormalities in the anterior cingulate cortex and abnormalities on the left temporoparietal junction. Another study has shown deficits in motor inhibition, which appears to be correlated with frontal cortex abnormalities. Furthermore, severity of excoriation disorder may be associated with higher levels of impulsivity. Treatment for this disease has largely focused on cognitive behavioral therapy and pharmacology. Early psychosocial treatment studies provided evidence for skin picking reduction with habit reversal or acceptance-enhanced behavior therapy (AEBT). The data for selective serotonin reuptake inhibitors (SSRIs) efficacy in this disease are not convincing, although some studies suggested that fluoxetine is effective. Tricyclic antidepressants, neuroleptics, and the dopamine-blocking opioid antagonist have also been found to be effective for skin-picking.",,,,,,,"In the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), excoriation disorder has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category.","ICD-11: 6B25.1
 ICD-10: F48.9","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25591046"">25591046</a>
 著者        Oliveira EC, Leppink EW, Derbyshire KL, Grant JE
 タイトル      Excoriation disorder: impulsivity and its clinical associations.
 雑誌        J Anxiety Disord 30:19-22 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.janxdis.2014.12.010"">10.1016/j.janxdis.2014.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23128921"">23128921</a>
 著者        Grant JE, Odlaug BL, Chamberlain SR, Keuthen NJ, Lochner C, Stein DJ
 タイトル      Skin picking disorder.
 雑誌        Am J Psychiatry 169:1143-9 (2012)
 DOI:<a href=""https://doi.org/10.1176/appi.ajp.2012.12040508"">10.1176/appi.ajp.2012.12040508</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20575652"">20575652</a>
 著者        Odlaug BL, Grant JE
 タイトル      Pathologic skin picking.
 雑誌        Am J Drug Alcohol Abuse 36:296-303 (2010)
 DOI:<a href=""https://doi.org/10.3109/00952991003747543"">10.3109/00952991003747543</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18334614"">18334614</a> (treatment)
 著者        Flessner CA, Busch AM, Heideman PW, Woods DW
 タイトル      Acceptance-enhanced behavior therapy (AEBT) for trichotillomania and chronic skin picking: exploring the effects of component sequencing.
 雑誌        Behav Modif 32:579-94 (2008)
 DOI:<a href=""https://doi.org/10.1177/0145445507313800"">10.1177/0145445507313800</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20694122"">20694122</a> (Drug)
 著者        Jafferany M, Shireen F, Ibrahim A
 タイトル      An open-label trial of topiramate in the treatment of skin picking in pervasive developmental disorder not otherwise specified.
 雑誌        Prim Care Companion J Clin Psychiatry 12:PCC.09l00829 (2010)
 DOI:<a href=""https://doi.org/10.4088/PCC.09l00829yel"">10.4088/PCC.09l00829yel</a>"
H01450,強迫性障害,,,"Obsessive-compulsive disorder (OCD) is a psychiatric disorder characterized by recurrent, intrusive and disturbing thoughts as well as by repetitive stereotypic behaviors. OCD is a complex disorder and its pathogenesis is most likely influenced by both genetic and environmental factors. Although more than 140 candidate gene studies have been conducted, the findings have been inconclusive due to small sample size and few study replications. Many studies suggest that abnormal serotonergic neurotransmission is one of the most consistent biological findings in OCD. Studies have also reported dopaminergic abnormalities in the basal ganglia and nucleus accumbens, as well as altered glutamate transmission. First line treatments for this disorder are cognitive behavioral therapy (exposure and response prevention) and selective serotonin reuptake inhibitors (SSRIs). In recent years, one of the promising novel treatment strategies developed to improve the efficacy of treatment for patients with OCD is acceptance and commitment therapy (ACT). Recent studies have suggested that age of onset is an important factor in subtyping OCD. Early-onset OCD has been proposed to be associated with greater symptom severity, a higher prevalence of tic-related disorders, a more familial form of the condition, and a greater prevalence of psychiatry disorders in first-degree relatives as compared to late-onset OCD.",精神及び行動の障害,,"BDNF (polymorphism) [HSA:627] [KO:K04355]
 HTR2A (promoter polymorphism) [HSA:3356] [KO:K04157]
 SLC6A4 (polymorphism) [HSA:6532] [KO:K05037]
 COMT (polymorphism) [HSA:1312] [KO:K00545]
 MAOA (polymorphism) [HSA:4128] [KO:K00274]
 SLC1A1 (polymorphism) [HSA:6505] [KO:K05612]
 DRD4 (polymorphism) [HSA:1815] [KO:K04147]",,,,"クロキサゾラム [DR:D01268]
 パロキセチン塩酸塩水和物 [DR:D02260]
 フルボキサミンマレイン酸塩 [DR:D00824]","For Tourette syndrome, see H00862.","ICD-11: 6B20
 ICD-10: F42
 MeSH: D009771
 OMIM: 164230","PMID:21820387
 著者        Taylor S
 タイトル      Early versus late onset obsessive-compulsive disorder: evidence for distinct subtypes.
 雑誌        Clin Psychol Rev 31:1083-100 (2011)
 DOI:10.1016/j.cpr.2011.06.007
 PMID:19432385
 著者        Leckman JF, Bloch MH, King RA
 タイトル      Symptom dimensions and subtypes of obsessive-compulsive disorder: a developmental perspective.
 雑誌        Dialogues Clin Neurosci 11:21-33 (2009)
 PMID:22911909
 著者        Tukel R, Gurvit H, Ozata B, Ozturk N, Ertekin BA, Ertekin E, Baran B, Kalem SA, Buyukgok D, Direskeneli GS
 タイトル      Brain-derived neurotrophic factor gene Val66Met polymorphism and cognitive function in obsessive-compulsive disorder.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 159B:850-8 (2012)
 DOI:10.1002/ajmg.b.32092
 PMID:12476319
 著者        Walitza S, Wewetzer C, Warnke A, Gerlach M, Geller F, Gerber G, Gorg T, Herpertz-Dahlmann B, Schulz E, Remschmidt H, Hebebrand J, Hinney A
 タイトル      5-HT2A promoter polymorphism -1438G/A in children and adolescents with obsessive-compulsive disorders.
 雑誌        Mol Psychiatry 7:1054-7 (2002)
 DOI:10.1038/sj.mp.4001105
 PMID:16642437
 著者        Hu XZ, Lipsky RH, Zhu G, Akhtar LA, Taubman J, Greenberg BD, Xu K, Arnold PD, Richter MA, Kennedy JL, Murphy DL, Goldman D
 タイトル      Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder.
 雑誌        Am J Hum Genet 78:815-26 (2006)
 DOI:10.1086/503850
 PMID:25793616
 著者        Sampaio AS, Hounie AG, Petribu K, Cappi C, Morais I, Vallada H, do Rosario MC, Stewart SE, Fargeness J, Mathews C, Arnold P, Hanna GL, Richter M, Kennedy J, Fontenelle L, de Braganca Pereira CA, Pauls DL, Miguel EC
 タイトル      COMT and MAO-A polymorphisms and obsessive-compulsive disorder: a family-based association study.
 雑誌        PLoS One 10:e0119592 (2015)
 DOI:10.1371/journal.pone.0119592
 PMID:16818867
 著者        Dickel DE, Veenstra-VanderWeele J, Cox NJ, Wu X, Fischer DJ, Van Etten-Lee M, Himle JA, Leventhal BL, Cook EH Jr, Hanna GL
 タイトル      Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder.
 雑誌        Arch Gen Psychiatry 63:778-85 (2006)
 DOI:10.1001/archpsyc.63.7.778
 PMID:12497615
 著者        Millet B, Chabane N, Delorme R, Leboyer M, Leroy S, Poirier MF, Bourdel MC, Mouren-Simeoni MC, Rouillon F, Loo H, Krebs MO
 タイトル      Association between the dopamine receptor D4 (DRD4) gene and obsessive-compulsive disorder.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 116B:55-9 (2003)
 DOI:10.1002/ajmg.b.10034
 PMID:26288647 (treatment)
 著者        Vakili Y, Gharaee B, Habibi M
 タイトル      Acceptance and Commitment Therapy, Selective Serotonin Reuptake Inhibitors and Their Combination in the Improvement of Obsessive-Compulsive Symptoms and Experiential Avoidance in Patients With Obsessive-Compulsive Disorder.
 雑誌        Iran J Psychiatry Behav Sci 9:e845 (2015)
 DOI:10.17795/ijpbs845
 PMID:16585942 (treatment)
 著者        Bloch MH, Landeros-Weisenberger A, Kelmendi B, Coric V, Bracken MB, Leckman JF
 タイトル      A systematic review: antipsychotic augmentation with treatment refractory obsessive-compulsive disorder.
 雑誌        Mol Psychiatry 11:622-32 (2006)
 DOI:10.1038/sj.mp.4001823","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01450"">H01450</a>",強迫性障害,"Obsessive-compulsive disorder (OCD) is a psychiatric disorder characterized by recurrent, intrusive and disturbing thoughts as well as by repetitive stereotypic behaviors. OCD is a complex disorder and its pathogenesis is most likely influenced by both genetic and environmental factors. Although more than 140 candidate gene studies have been conducted, the findings have been inconclusive due to small sample size and few study replications. Many studies suggest that abnormal serotonergic neurotransmission is one of the most consistent biological findings in OCD. Studies have also reported dopaminergic abnormalities in the basal ganglia and nucleus accumbens, as well as altered glutamate transmission. First line treatments for this disorder are cognitive behavioral therapy (exposure and response prevention) and selective serotonin reuptake inhibitors (SSRIs). In recent years, one of the promising novel treatment strategies developed to improve the efficacy of treatment for patients with OCD is acceptance and commitment therapy (ACT). Recent studies have suggested that age of onset is an important factor in subtyping OCD. Early-onset OCD has been proposed to be associated with greater symptom severity, a higher prevalence of tic-related disorders, a more familial form of the condition, and a greater prevalence of psychiatry disorders in first-degree relatives as compared to late-onset OCD.",,"BDNF (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:627"">627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04355"">K04355</a>]
 HTR2A (promoter polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3356"">3356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04157"">K04157</a>]
 SLC6A4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6532"">6532</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05037"">K05037</a>]
 COMT (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1312"">1312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00545"">K00545</a>]
 MAOA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4128"">4128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00274"">K00274</a>]
 SLC1A1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6505"">6505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05612"">K05612</a>]
 DRD4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1815"">1815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04147"">K04147</a>]",,,,"クロキサゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01268"">D01268</a>]
 パロキセチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02260"">D02260</a>]
 フルボキサミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00824"">D00824</a>]","For Tourette syndrome, see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00862."">H00862.</a>","ICD-11: 6B20
 ICD-10: F42
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009771"">D009771</a>
 OMIM: <a href=""https://www.omim.org/entry/164230"">164230</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820387"">21820387</a>
 著者        Taylor S
 タイトル      Early versus late onset obsessive-compulsive disorder: evidence for distinct subtypes.
 雑誌        Clin Psychol Rev 31:1083-100 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.cpr.2011.06.007"">10.1016/j.cpr.2011.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19432385"">19432385</a>
 著者        Leckman JF, Bloch MH, King RA
 タイトル      Symptom dimensions and subtypes of obsessive-compulsive disorder: a developmental perspective.
 雑誌        Dialogues Clin Neurosci 11:21-33 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22911909"">22911909</a>
 著者        Tukel R, Gurvit H, Ozata B, Ozturk N, Ertekin BA, Ertekin E, Baran B, Kalem SA, Buyukgok D, Direskeneli GS
 タイトル      Brain-derived neurotrophic factor gene Val66Met polymorphism and cognitive function in obsessive-compulsive disorder.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 159B:850-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.32092"">10.1002/ajmg.b.32092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12476319"">12476319</a>
 著者        Walitza S, Wewetzer C, Warnke A, Gerlach M, Geller F, Gerber G, Gorg T, Herpertz-Dahlmann B, Schulz E, Remschmidt H, Hebebrand J, Hinney A
 タイトル      5-HT2A promoter polymorphism -1438G/A in children and adolescents with obsessive-compulsive disorders.
 雑誌        Mol Psychiatry 7:1054-7 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001105"">10.1038/sj.mp.4001105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16642437"">16642437</a>
 著者        Hu XZ, Lipsky RH, Zhu G, Akhtar LA, Taubman J, Greenberg BD, Xu K, Arnold PD, Richter MA, Kennedy JL, Murphy DL, Goldman D
 タイトル      Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder.
 雑誌        Am J Hum Genet 78:815-26 (2006)
 DOI:<a href=""https://doi.org/10.1086/503850"">10.1086/503850</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25793616"">25793616</a>
 著者        Sampaio AS, Hounie AG, Petribu K, Cappi C, Morais I, Vallada H, do Rosario MC, Stewart SE, Fargeness J, Mathews C, Arnold P, Hanna GL, Richter M, Kennedy J, Fontenelle L, de Braganca Pereira CA, Pauls DL, Miguel EC
 タイトル      COMT and MAO-A polymorphisms and obsessive-compulsive disorder: a family-based association study.
 雑誌        PLoS One 10:e0119592 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0119592"">10.1371/journal.pone.0119592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16818867"">16818867</a>
 著者        Dickel DE, Veenstra-VanderWeele J, Cox NJ, Wu X, Fischer DJ, Van Etten-Lee M, Himle JA, Leventhal BL, Cook EH Jr, Hanna GL
 タイトル      Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder.
 雑誌        Arch Gen Psychiatry 63:778-85 (2006)
 DOI:<a href=""https://doi.org/10.1001/archpsyc.63.7.778"">10.1001/archpsyc.63.7.778</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12497615"">12497615</a>
 著者        Millet B, Chabane N, Delorme R, Leboyer M, Leroy S, Poirier MF, Bourdel MC, Mouren-Simeoni MC, Rouillon F, Loo H, Krebs MO
 タイトル      Association between the dopamine receptor D4 (DRD4) gene and obsessive-compulsive disorder.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 116B:55-9 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.10034"">10.1002/ajmg.b.10034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26288647"">26288647</a> (treatment)
 著者        Vakili Y, Gharaee B, Habibi M
 タイトル      Acceptance and Commitment Therapy, Selective Serotonin Reuptake Inhibitors and Their Combination in the Improvement of Obsessive-Compulsive Symptoms and Experiential Avoidance in Patients With Obsessive-Compulsive Disorder.
 雑誌        Iran J Psychiatry Behav Sci 9:e845 (2015)
 DOI:<a href=""https://doi.org/10.17795/ijpbs845"">10.17795/ijpbs845</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16585942"">16585942</a> (treatment)
 著者        Bloch MH, Landeros-Weisenberger A, Kelmendi B, Coric V, Bracken MB, Leckman JF
 タイトル      A systematic review: antipsychotic augmentation with treatment refractory obsessive-compulsive disorder.
 雑誌        Mol Psychiatry 11:622-32 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001823"">10.1038/sj.mp.4001823</a>"
H01451,放線菌腫,,,"Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma) or fungi (eumycetoma [DS:H02385] ). It is endemic in tropical and subtropical regions, predominating between latitudes 15 degrees south and 30 degrees north, called mycetoma belt. Actinomycetoma is most commonly found in Latin America. Although Nocardia brasiliensis, Actinomadura madurae, Actinomadura pelletieri and Streptomyces somaliensis are the common causative organisms of actinomycetoma, the distribution of them shows strong geographic variation. The primary niche of these microorganisms is suggested to be the soil. The infection is thought to start subcutaneously after traumatic inoculation of these microorganisms.",感染症,,,"Nocardia brasiliensis [GN:nbr]
 Nocardiopsis dassonvillei [GN:nda]
 Actinomadura madurae
 Actinomadura pelletieri
 Streptomyces somaliensis",,,,See also H02385 Eumycetoma and H00345 Nocardiosis.,"ICD-11: 1C43
 ICD-10: B47.1
 MeSH: D008271","PMID:11018454
 著者        Salinas-Carmona MC
 タイトル      Nocardia brasiliensis: from microbe to human and experimental infections.
 雑誌        Microbes Infect 2:1373-81 (2000)
 DOI:10.1016/S1286-4579(00)01291-0
 PMID:26738840
 著者        Zijlstra EE, van de Sande WWJ, Welsh O, Mahgoub ES, Goodfellow M, Fahal AH
 タイトル      Mycetoma: a unique neglected tropical disease.
 雑誌        Lancet Infect Dis 16:100-112 (2016)
 DOI:10.1016/S1473-3099(15)00359-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01451"">H01451</a>",放線菌腫,"Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma) or fungi (eumycetoma [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02385"">H02385</a>] ). It is endemic in tropical and subtropical regions, predominating between latitudes 15 degrees south and 30 degrees north, called mycetoma belt. Actinomycetoma is most commonly found in Latin America. Although Nocardia brasiliensis, Actinomadura madurae, Actinomadura pelletieri and Streptomyces somaliensis are the common causative organisms of actinomycetoma, the distribution of them shows strong geographic variation. The primary niche of these microorganisms is suggested to be the soil. The infection is thought to start subcutaneously after traumatic inoculation of these microorganisms.",,,"Nocardia brasiliensis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nbr"">nbr</a>]
 Nocardiopsis dassonvillei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:nda"">nda</a>]
 Actinomadura madurae
 Actinomadura pelletieri
 Streptomyces somaliensis",,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02385"">H02385</a> Eumycetoma and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00345"">H00345</a> Nocardiosis.","ICD-11: 1C43
 ICD-10: B47.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008271"">D008271</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11018454"">11018454</a>
 著者        Salinas-Carmona MC
 タイトル      Nocardia brasiliensis: from microbe to human and experimental infections.
 雑誌        Microbes Infect 2:1373-81 (2000)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(00)01291-0"">10.1016/S1286-4579(00)01291-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26738840"">26738840</a>
 著者        Zijlstra EE, van de Sande WWJ, Welsh O, Mahgoub ES, Goodfellow M, Fahal AH
 タイトル      Mycetoma: a unique neglected tropical disease.
 雑誌        Lancet Infect Dis 16:100-112 (2016)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(15)00359-X"">10.1016/S1473-3099(15)00359-X</a>"
H01452,レンサ球菌感染性小児自己免疫神経精神障害,,,"Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) is an autoimmune disorder presenting with obsessive compulsive disorder (OCD) and/or tics. PANDAS is believed to be caused by antibodies generated in response to a group A beta-hemolytic streptococcal (GAS) infection in genetically susceptible individuals. PANDAS is defined by five diagnostic criteria: (1) the presence of OCD and/or a tic disorder, (2) prepubertal symptom onset, (3) an abrupt onset of symptoms that are episodic in severity, (4) a temporal association between symptom exacerbations and GAS infections, and (5) the presence of neurological abnormalities (e.g., choreiform movements) during exacerbations. It has been reported that antibiotics and immunomodulatory therapies (plasma exchange and IVIG) were effective in lessening of symptom severity.",免疫系疾患,,,Group A beta-hemolytic streptococcus,,,,,"ICD-11: 8E4A.0
 ICD-10: B95.0
 MeSH: C537163","PMID:26196024
 著者        Helm CE, Blackwood RA
 タイトル      Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS): Experience at a Tertiary Referral Center.
 雑誌        Tremor Other Hyperkinet Mov (N Y) 5:270 (2015)
 DOI:10.7916/D8348JCX
 PMID:15241433
 著者        Snider LA, Swedo SE
 タイトル      PANDAS: current status and directions for research.
 雑誌        Mol Psychiatry 9:900-7 (2004)
 DOI:10.1038/sj.mp.4001542
 PMID:18495013
 著者        Moretti G, Pasquini M, Mandarelli G, Tarsitani L, Biondi M
 タイトル      What every psychiatrist should know about PANDAS: a review.
 雑誌        Clin Pract Epidemiol Ment Health 4:13 (2008)
 DOI:10.1186/1745-0179-4-13","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01452"">H01452</a>",レンサ球菌感染性小児自己免疫神経精神障害,"Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) is an autoimmune disorder presenting with obsessive compulsive disorder (OCD) and/or tics. PANDAS is believed to be caused by antibodies generated in response to a group A beta-hemolytic streptococcal (GAS) infection in genetically susceptible individuals. PANDAS is defined by five diagnostic criteria: (1) the presence of OCD and/or a tic disorder, (2) prepubertal symptom onset, (3) an abrupt onset of symptoms that are episodic in severity, (4) a temporal association between symptom exacerbations and GAS infections, and (5) the presence of neurological abnormalities (e.g., choreiform movements) during exacerbations. It has been reported that antibiotics and immunomodulatory therapies (plasma exchange and IVIG) were effective in lessening of symptom severity.",,,Group A beta-hemolytic streptococcus,,,,,"ICD-11: 8E4A.0
 ICD-10: B95.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537163"">C537163</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26196024"">26196024</a>
 著者        Helm CE, Blackwood RA
 タイトル      Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS): Experience at a Tertiary Referral Center.
 雑誌        Tremor Other Hyperkinet Mov (N Y) 5:270 (2015)
 DOI:<a href=""https://doi.org/10.7916/D8348JCX"">10.7916/D8348JCX</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15241433"">15241433</a>
 著者        Snider LA, Swedo SE
 タイトル      PANDAS: current status and directions for research.
 雑誌        Mol Psychiatry 9:900-7 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001542"">10.1038/sj.mp.4001542</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18495013"">18495013</a>
 著者        Moretti G, Pasquini M, Mandarelli G, Tarsitani L, Biondi M
 タイトル      What every psychiatrist should know about PANDAS: a review.
 雑誌        Clin Pract Epidemiol Ment Health 4:13 (2008)
 DOI:<a href=""https://doi.org/10.1186/1745-0179-4-13"">10.1186/1745-0179-4-13</a>"
H01453,強迫性障害および関連障害群,,,"Obsessive-Compulsive and Related Disorder (OCRD) is a group of disorders that is characterized by having preoccupations (obsessions) and/or repetitive behaviors (compulsions). Previously, Obsessive-compulsive disorder (OCD) was grouped with the anxiety disorders. However, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) moved OCD into a new category, because much of the evidence suggests OCD and OC-spectrum disorders are distinct from other anxiety disorders. Although OCD and anxiety disorders often share core clinical feature, significant differences also exist in effective first-line pharmacological interventions. Patients with anxiety disorders respond to a wide range of pharmacological interventions. In contrast, patients with OCD do not respond to nonserotonergic agents. OCRD includes OCD, Trichotillomania, Hoarding disorder, Excoriation disorder, and Body dysmorphic disorder.
 The usual treatments of OCRD are cognitive behavioural therapy (CBT) and selective serotonin reuptake inhibitors (SSRI).",精神及び行動の障害,,,,,,,"See also H01450 Obsessive-compulsive disorder (OCD), H00864 Trichotillomania, H01448 Hoarding disorder, H01449 Excoriation disorder, and H01447 Body Dysmorphic Disorder.","ICD-11: 6B2Z
 ICD-10: F42","PMID:24616177
 著者        Van Ameringen M, Patterson B, Simpson W
 タイトル      DSM-5 obsessive-compulsive and related disorders: clinical implications of new criteria.
 雑誌        Depress Anxiety 31:487-93 (2014)
 DOI:10.1002/da.22259
 PMID:20623919
 著者        Murphy DL, Timpano KR, Wheaton MG, Greenberg BD, Miguel EC
 タイトル      Obsessive-compulsive disorder and its related disorders: a reappraisal of obsessive-compulsive spectrum concepts.
 雑誌        Dialogues Clin Neurosci 12:131-48 (2010)
 PMID:19819022
 著者        Nicolini H, Arnold P, Nestadt G, Lanzagorta N, Kennedy JL
 タイトル      Overview of genetics and obsessive-compulsive disorder.
 雑誌        Psychiatry Res 170:7-14 (2009)
 DOI:10.1016/j.psychres.2008.10.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01453"">H01453</a>",強迫性障害および関連障害群,"Obsessive-Compulsive and Related Disorder (OCRD) is a group of disorders that is characterized by having preoccupations (obsessions) and/or repetitive behaviors (compulsions). Previously, Obsessive-compulsive disorder (OCD) was grouped with the anxiety disorders. However, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) moved OCD into a new category, because much of the evidence suggests OCD and OC-spectrum disorders are distinct from other anxiety disorders. Although OCD and anxiety disorders often share core clinical feature, significant differences also exist in effective first-line pharmacological interventions. Patients with anxiety disorders respond to a wide range of pharmacological interventions. In contrast, patients with OCD do not respond to nonserotonergic agents. OCRD includes OCD, Trichotillomania, Hoarding disorder, Excoriation disorder, and Body dysmorphic disorder.
 The usual treatments of OCRD are cognitive behavioural therapy (CBT) and selective serotonin reuptake inhibitors (SSRI).",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01450"">H01450</a> Obsessive-compulsive disorder (OCD), <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00864"">H00864</a> Trichotillomania, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01448"">H01448</a> Hoarding disorder, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01449"">H01449</a> Excoriation disorder, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01447"">H01447</a> Body Dysmorphic Disorder.","ICD-11: 6B2Z
 ICD-10: F42","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24616177"">24616177</a>
 著者        Van Ameringen M, Patterson B, Simpson W
 タイトル      DSM-5 obsessive-compulsive and related disorders: clinical implications of new criteria.
 雑誌        Depress Anxiety 31:487-93 (2014)
 DOI:<a href=""https://doi.org/10.1002/da.22259"">10.1002/da.22259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20623919"">20623919</a>
 著者        Murphy DL, Timpano KR, Wheaton MG, Greenberg BD, Miguel EC
 タイトル      Obsessive-compulsive disorder and its related disorders: a reappraisal of obsessive-compulsive spectrum concepts.
 雑誌        Dialogues Clin Neurosci 12:131-48 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19819022"">19819022</a>
 著者        Nicolini H, Arnold P, Nestadt G, Lanzagorta N, Kennedy JL
 タイトル      Overview of genetics and obsessive-compulsive disorder.
 雑誌        Psychiatry Res 170:7-14 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.psychres.2008.10.011"">10.1016/j.psychres.2008.10.011</a>"
H01454,結腸スピロヘータ症,,,"Colonic spirochetosis (CS) is a disease caused by the Brachyspira genus, Brachyspira aalborgi and Brachyspira pilosicoli. B. pilosicoli induces disease in both humans and animals, whereas B. aalborgi affects only humans and higher primates. CS is a polymicrobial disease characterized by persistent intimate mucosal epithelial cell attachment of spirochetes alone or together with certain enterohepatic Helicobacter species. Symptoms in humans include diarrhea, rectal bleeding, and abdominal cramps.",感染症,,,Brachyspira pilosicoli,,,,,"ICD-11: 1A0Y
 ICD-10: A04.9 A69.9","PMID:16013401
 著者        Smith JL
 タイトル      Colonic spirochetosis in animals and humans.
 雑誌        J Food Prot 68:1525-34 (2005)
 DOI:10.4315/0362-028X-68.7.1525
 PMID:23469345 (pathogen)
 著者        Lin C, den Bakker HC, Suzuki H, Lefebure T, Ponnala L, Sun Q, Stanhope MJ, Wiedmann M, Duhamel GE
 タイトル      Complete Genome Sequence of the Porcine Strain Brachyspira pilosicoli P43/6/78(T.).
 雑誌        Genome Announc 1:e00215-12 (2013)
 DOI:10.1128/genomeA.00215-12","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01454"">H01454</a>",結腸スピロヘータ症,"Colonic spirochetosis (CS) is a disease caused by the Brachyspira genus, Brachyspira aalborgi and Brachyspira pilosicoli. B. pilosicoli induces disease in both humans and animals, whereas B. aalborgi affects only humans and higher primates. CS is a polymicrobial disease characterized by persistent intimate mucosal epithelial cell attachment of spirochetes alone or together with certain enterohepatic Helicobacter species. Symptoms in humans include diarrhea, rectal bleeding, and abdominal cramps.",,,Brachyspira pilosicoli,,,,,"ICD-11: 1A0Y
 ICD-10: A04.9 A69.9","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16013401"">16013401</a>
 著者        Smith JL
 タイトル      Colonic spirochetosis in animals and humans.
 雑誌        J Food Prot 68:1525-34 (2005)
 DOI:<a href=""https://doi.org/10.4315/0362-028X-68.7.1525"">10.4315/0362-028X-68.7.1525</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23469345"">23469345</a> (pathogen)
 著者        Lin C, den Bakker HC, Suzuki H, Lefebure T, Ponnala L, Sun Q, Stanhope MJ, Wiedmann M, Duhamel GE
 タイトル      Complete Genome Sequence of the Porcine Strain Brachyspira pilosicoli P43/6/78(T.).
 雑誌        Genome Announc 1:e00215-12 (2013)
 DOI:<a href=""https://doi.org/10.1128/genomeA.00215-12"">10.1128/genomeA.00215-12</a>"
H01455,"壊死性筋膜炎
 上位グループ    レンサ球菌感染症 [DS:H00333]",,,"Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also affects the pediatric population. Many bacterial organisms can cause NF, but group A Streptococcus is the most common monomicrobial cause of disease. Other bacterial pathogens that have been implicated in NF include Staphylococcus aureus, Clostridium species, and mixed Gram-negative and anaerobic organisms.",感染症,,,"Streptococcus pyogenes [GN:spya sps stg stx]
 Staphylococcus aureus [GN:saun]
 Ochrobactrum anthropi
 Myroides sp.",,,,,"ICD-11: 1B71
 ICD-10: M72.6
 MeSH: D019115
 MedlinePlus: 001443","PMID:26548496
 著者        Arif N, Yousfi S, Vinnard C
 タイトル      Deaths from necrotizing fasciitis in the United States, 2003-2013.
 雑誌        Epidemiol Infect 1-7 (2015)
 DOI:10.1017/S0950268815002745
 PMID:22158285
 著者        Jamal N, Teach SJ
 タイトル      Necrotizing fasciitis.
 雑誌        Pediatr Emerg Care 27:1195-9; quiz 1200-2 (2011)
 DOI:10.1097/PEC.0b013e31823b583c
 PMID:25745004 (pathogen)
 著者        Burghartz M, Bunk B, Sproer C, Voget S, Daniel R, Overmann J, Jahn M
 タイトル      Complete Genome Sequence of the Urethral Catheter Isolate Myroides sp. A21.
 雑誌        Genome Announc 3:e00068-15 (2015)
 DOI:10.1128/genomeA.00068-15","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01455"">H01455</a>","壊死性筋膜炎
 上位グループ    レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>]","Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also affects the pediatric population. Many bacterial organisms can cause NF, but group A Streptococcus is the most common monomicrobial cause of disease. Other bacterial pathogens that have been implicated in NF include Staphylococcus aureus, Clostridium species, and mixed Gram-negative and anaerobic organisms.",,,"Streptococcus pyogenes [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:spya"">spya</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sps"">sps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stg"">stg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:stx"">stx</a>]
 Staphylococcus aureus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:saun"">saun</a>]
 Ochrobactrum anthropi
 Myroides sp.",,,,,"ICD-11: 1B71
 ICD-10: M72.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019115"">D019115</a>
 MedlinePlus: 001443","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26548496"">26548496</a>
 著者        Arif N, Yousfi S, Vinnard C
 タイトル      Deaths from necrotizing fasciitis in the United States, 2003-2013.
 雑誌        Epidemiol Infect 1-7 (2015)
 DOI:<a href=""https://doi.org/10.1017/S0950268815002745"">10.1017/S0950268815002745</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22158285"">22158285</a>
 著者        Jamal N, Teach SJ
 タイトル      Necrotizing fasciitis.
 雑誌        Pediatr Emerg Care 27:1195-9; quiz 1200-2 (2011)
 DOI:<a href=""https://doi.org/10.1097/PEC.0b013e31823b583c"">10.1097/PEC.0b013e31823b583c</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25745004"">25745004</a> (pathogen)
 著者        Burghartz M, Bunk B, Sproer C, Voget S, Daniel R, Overmann J, Jahn M
 タイトル      Complete Genome Sequence of the Urethral Catheter Isolate Myroides sp. A21.
 雑誌        Genome Announc 3:e00068-15 (2015)
 DOI:<a href=""https://doi.org/10.1128/genomeA.00068-15"">10.1128/genomeA.00068-15</a>"
H01456,"糖尿病性腎症
 上位グループ    糖尿病性細小血管合併症 [DS:H02559]",,,"Diabetic nephropathy (DN), also called diabetic kidney disease, is a microvascular complication of diabetes that induces dysfunction in various cell types of the kidney, ultimately leading to renal failure. A clinical syndrome of DN is characterized by decreased glomerular filtration rate (GFR), excessive deposition of extracellular matrix proteins, thickening of the peripheral glomerular basement membrane, glomerular hypertrophy, tubulointerstitial fibrosis, increased excretion of albumin, and decreased creatinine clearance. It has been reported that angiotensin-converting enzyme, vascular endothelial growth factor A, and superoxide dismutase 2 are associated with DN.",内分泌代謝疾患; 泌尿器系疾患,,"(Type 1 DN) VEGFA (polymorphism) [HSA:7422] [KO:K05448]
 (Type 1,2 DN) ACE (polymorphism) [HSA:1636] [KO:K01283]
 (Type 1,2 DN) SOD2 (polymorphism) [HSA:6648] [KO:K04564]",,,,"イミダプリル塩酸塩 [DR:D01549]
 ロサルタンカリウム [DR:D00357]
 フィネレノン [DR:D10633]
 カナグリフロジン水和物 [DR:D09592]",,"ICD-11: GB61.Z
 ICD-10: E14.2
 MeSH: D003928
 OMIM: 603933 612624 612634","PMID:25169573
 著者        Alkayyali S, Lyssenko V
 タイトル      Genetics of diabetes complications.
 雑誌        Mamm Genome 25:384-400 (2014)
 DOI:10.1007/s00335-014-9543-x
 PMID:21127830
 著者        Mooyaart AL, Valk EJ, van Es LA, Bruijn JA, de Heer E, Freedman BI, Dekkers OM, Baelde HJ
 タイトル      Genetic associations in diabetic nephropathy: a meta-analysis.
 雑誌        Diabetologia 54:544-53 (2011)
 DOI:10.1007/s00125-010-1996-1
 PMID:17192491
 著者        Mollsten A, Marklund SL, Wessman M, Svensson M, Forsblom C, Parkkonen M, Brismar K, Groop PH, Dahlquist G
 タイトル      A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy.
 雑誌        Diabetes 56:265-9 (2007)
 DOI:10.2337/db06-0698
 PMID:25512783
 著者        Rizvi S, Raza ST, Mahdi F
 タイトル      Association of genetic variants with diabetic nephropathy.
 雑誌        World J Diabetes 5:809-16 (2014)
 DOI:10.4239/wjd.v5.i6.809
 PMID:25342915
 著者        Lim AKh
 タイトル      Diabetic nephropathy - complications and treatment.
 雑誌        Int J Nephrol Renovasc Dis 7:361-81 (2014)
 DOI:10.2147/IJNRD.S40172","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01456"">H01456</a>","糖尿病性腎症
 上位グループ    糖尿病性細小血管合併症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02559"">H02559</a>]","Diabetic nephropathy (DN), also called diabetic kidney disease, is a microvascular complication of diabetes that induces dysfunction in various cell types of the kidney, ultimately leading to renal failure. A clinical syndrome of DN is characterized by decreased glomerular filtration rate (GFR), excessive deposition of extracellular matrix proteins, thickening of the peripheral glomerular basement membrane, glomerular hypertrophy, tubulointerstitial fibrosis, increased excretion of albumin, and decreased creatinine clearance. It has been reported that angiotensin-converting enzyme, vascular endothelial growth factor A, and superoxide dismutase 2 are associated with DN.",,"(Type 1 DN) VEGFA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]
 (Type 1,2 DN) ACE (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1636"">1636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01283"">K01283</a>]
 (Type 1,2 DN) SOD2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6648"">6648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04564"">K04564</a>]",,,,"イミダプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01549"">D01549</a>]
 ロサルタンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00357"">D00357</a>]
 フィネレノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10633"">D10633</a>]
 カナグリフロジン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09592"">D09592</a>]",,"ICD-11: GB61.Z
 ICD-10: E14.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003928"">D003928</a>
 OMIM: <a href=""https://www.omim.org/entry/603933"">603933</a> <a href=""https://www.omim.org/entry/612624"">612624</a> <a href=""https://www.omim.org/entry/612634"">612634</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25169573"">25169573</a>
 著者        Alkayyali S, Lyssenko V
 タイトル      Genetics of diabetes complications.
 雑誌        Mamm Genome 25:384-400 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00335-014-9543-x"">10.1007/s00335-014-9543-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21127830"">21127830</a>
 著者        Mooyaart AL, Valk EJ, van Es LA, Bruijn JA, de Heer E, Freedman BI, Dekkers OM, Baelde HJ
 タイトル      Genetic associations in diabetic nephropathy: a meta-analysis.
 雑誌        Diabetologia 54:544-53 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00125-010-1996-1"">10.1007/s00125-010-1996-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17192491"">17192491</a>
 著者        Mollsten A, Marklund SL, Wessman M, Svensson M, Forsblom C, Parkkonen M, Brismar K, Groop PH, Dahlquist G
 タイトル      A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy.
 雑誌        Diabetes 56:265-9 (2007)
 DOI:<a href=""https://doi.org/10.2337/db06-0698"">10.2337/db06-0698</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25512783"">25512783</a>
 著者        Rizvi S, Raza ST, Mahdi F
 タイトル      Association of genetic variants with diabetic nephropathy.
 雑誌        World J Diabetes 5:809-16 (2014)
 DOI:<a href=""https://doi.org/10.4239/wjd.v5.i6.809"">10.4239/wjd.v5.i6.809</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25342915"">25342915</a>
 著者        Lim AKh
 タイトル      Diabetic nephropathy - complications and treatment.
 雑誌        Int J Nephrol Renovasc Dis 7:361-81 (2014)
 DOI:<a href=""https://doi.org/10.2147/IJNRD.S40172"">10.2147/IJNRD.S40172</a>"
H01457,"糖尿病性網膜症
 上位グループ    糖尿病性細小血管合併症 [DS:H02559]",,,"Diabetic retinopathy (DR), one of the most common vascular complication of diabetes, is the leading cause of visual deficits and blindness around the world. The development of DR is divided into two stages: in the early stages, also called as nonproliferative stage, it is asymptomatic because the signs are not visible to the eye. however, some defects including microaneurysms, intraretinal hemorrhaging, narrowing or blocked retinal blood vessels can be seen by detection; in the second stage, known as proliferative diabetic retinopathy, where neovascularization appears at the back of the eye and extend into the vitreous of the eye, and these new blood vessels are fragile. If they leak blood, the bleeding causes shrinkage of the retina, leading to retinal detachment, and ultimately to blindness. It has been reported that vascular endothelial growth factor A, angiotensin-converting enzyme, paraoxonase, erythropoietin are associated with DR development and progression.",内分泌代謝疾患; 神経系疾患,,"VEGFA (polymorphism) [HSA:7422] [KO:K05448]
 EPO (polymophism) [HSA:2056] [KO:K05437]
 ACE (polymorphism) [HSA:1636] [KO:K01283]
 PON1 (polymorphism) [HSA:5444] [KO:K01045]",,,,トコフェロール酢酸エステル [DR:D01735],,"ICD-11: 9B71.0
 ICD-10: E14.3
 MeSH: D003930
 OMIM: 603933 612623 612624 612633","PMID:26648684
 著者        Hampton BM, Schwartz SG, Brantley MA Jr, Flynn HW Jr
 タイトル      Update on genetics and diabetic retinopathy.
 雑誌        Clin Ophthalmol 9:2175-93 (2015)
 DOI:10.2147/OPTH.S94508
 PMID:16120858
 著者        Watanabe D, Suzuma K, Matsui S, Kurimoto M, Kiryu J, Kita M, Suzuma I, Ohashi H, Ojima T, Murakami T, Kobayashi T, Masuda S, Nagao M, Yoshimura N, Takagi H
 タイトル      Erythropoietin as a retinal angiogenic factor in proliferative diabetic retinopathy.
 雑誌        N Engl J Med 353:782-92 (2005)
 DOI:10.1056/NEJMoa041773
 PMID:9661650
 著者        Kao YL, Donaghue K, Chan A, Knight J, Silink M
 タイトル      A variant of paraoxonase (PON1) gene is associated with diabetic retinopathy in IDDM.
 雑誌        J Clin Endocrinol Metab 83:2589-92 (1998)
 DOI:10.1210/jcem.83.7.5096
 PMID:25949073
 著者        Dedania VS, Bakri SJ
 タイトル      Novel pharmacotherapies in diabetic retinopathy.
 雑誌        Middle East Afr J Ophthalmol 22:164-73 (2015)
 DOI:10.4103/0974-9233.154389","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01457"">H01457</a>","糖尿病性網膜症
 上位グループ    糖尿病性細小血管合併症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02559"">H02559</a>]","Diabetic retinopathy (DR), one of the most common vascular complication of diabetes, is the leading cause of visual deficits and blindness around the world. The development of DR is divided into two stages: in the early stages, also called as nonproliferative stage, it is asymptomatic because the signs are not visible to the eye. however, some defects including microaneurysms, intraretinal hemorrhaging, narrowing or blocked retinal blood vessels can be seen by detection; in the second stage, known as proliferative diabetic retinopathy, where neovascularization appears at the back of the eye and extend into the vitreous of the eye, and these new blood vessels are fragile. If they leak blood, the bleeding causes shrinkage of the retina, leading to retinal detachment, and ultimately to blindness. It has been reported that vascular endothelial growth factor A, angiotensin-converting enzyme, paraoxonase, erythropoietin are associated with DR development and progression.",,"VEGFA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]
 EPO (polymophism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2056"">2056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05437"">K05437</a>]
 ACE (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1636"">1636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01283"">K01283</a>]
 PON1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5444"">5444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01045"">K01045</a>]",,,,"トコフェロール酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01735"">D01735</a>]",,"ICD-11: 9B71.0
 ICD-10: E14.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003930"">D003930</a>
 OMIM: <a href=""https://www.omim.org/entry/603933"">603933</a> <a href=""https://www.omim.org/entry/612623"">612623</a> <a href=""https://www.omim.org/entry/612624"">612624</a> <a href=""https://www.omim.org/entry/612633"">612633</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26648684"">26648684</a>
 著者        Hampton BM, Schwartz SG, Brantley MA Jr, Flynn HW Jr
 タイトル      Update on genetics and diabetic retinopathy.
 雑誌        Clin Ophthalmol 9:2175-93 (2015)
 DOI:<a href=""https://doi.org/10.2147/OPTH.S94508"">10.2147/OPTH.S94508</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16120858"">16120858</a>
 著者        Watanabe D, Suzuma K, Matsui S, Kurimoto M, Kiryu J, Kita M, Suzuma I, Ohashi H, Ojima T, Murakami T, Kobayashi T, Masuda S, Nagao M, Yoshimura N, Takagi H
 タイトル      Erythropoietin as a retinal angiogenic factor in proliferative diabetic retinopathy.
 雑誌        N Engl J Med 353:782-92 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa041773"">10.1056/NEJMoa041773</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9661650"">9661650</a>
 著者        Kao YL, Donaghue K, Chan A, Knight J, Silink M
 タイトル      A variant of paraoxonase (PON1) gene is associated with diabetic retinopathy in IDDM.
 雑誌        J Clin Endocrinol Metab 83:2589-92 (1998)
 DOI:<a href=""https://doi.org/10.1210/jcem.83.7.5096"">10.1210/jcem.83.7.5096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25949073"">25949073</a>
 著者        Dedania VS, Bakri SJ
 タイトル      Novel pharmacotherapies in diabetic retinopathy.
 雑誌        Middle East Afr J Ophthalmol 22:164-73 (2015)
 DOI:<a href=""https://doi.org/10.4103/0974-9233.154389"">10.4103/0974-9233.154389</a>"
H01458,"非結核性抗酸菌症;
 非定型抗酸菌症
 下位グループ    肺 MAC 症 [DS:H02029]
 Rapidly growing mycobacteria 感染症 [DS:H01462]
 ブルーリ潰瘍 [DS:H01042]",,,"Mycobacteria species other than the obligate pathogens Mycobacterium tuberculosis complex and Mycobacterium leprae are known as nontuberculous mycobacteria (NTM) or atypical mycobacteria. NTM are normal inhabitants of soil and treated water. Although generally of low pathogenicity to humans, NTM can cause a wide range of clinical diseases, for instance, pulmonary disease is most frequent, followed by lymphadenitis in children, skin disease and other extrapulmonary or disseminated infections in the severely immunocompromised.",感染症,,,"Mycobacterium avium
 Mycobacterium intracellulare [GN:mit mia mir]
 Mycobacterium chimaera [GN:mchi]
 Mycobacterium marinum [GN:mmi]
 Mycobacterium sp. MOTT36Y [GN:mmm]
 Mycobacterium haemophilum [GN:mhad]
 Mycobacterium shigaense [GN:mshg]
 Mycobacterium florentinum [GN:mfj]
 Mycobacterium stomatepiae [GN:msto]
 Mycobacterium noviomagense [GN:mnv]
 Mycobacterium seoulense [GN:mseo]
 Mycobacterium heckeshornense [GN:mhek]
 Mycobacterium gallinarum [GN:mgau]
 Mycobacterium doricum [GN:mdr]
 Mycobacterium abscessus [GN:mab mmv mabb mabl]
 Mycobacterium chelonae [GN:mche]
 Mycobacterium sp. JDM601 [GN:mjd]
 Mycolicibacterium aichiense [GN:maic]
 Mycolicibacterium insubricum [GN:mij]
 Mycolicibacterium alvei [GN:malv]
 Mycolicibacterium aubagnense [GN:maub]
 Mycolicibacterium phocaicum [GN:mphu]
 Mycolicibacterium celeriflavum [GN:mcee]",,,"フドステイン [DR:D01845]
 クラリスロマイシン [DR:D00276]
 ストレプトマイシン硫酸塩 [DR:D01350]
 リファンピシン [DR:D00211]
 リファブチン [DR:D00424]
 エタンブトール塩酸塩 [DR:D00878]",,"ICD-11: 1B21
 ICD-10: A31.9
 MeSH: D009165","PMID:23460010
 著者        van Ingen J
 タイトル      Diagnosis of nontuberculous mycobacterial infections.
 雑誌        Semin Respir Crit Care Med 34:103-9 (2013)
 DOI:10.1055/s-0033-1333569
 PMID:26143432
 著者        Gonzalez-Santiago TM, Drage LA
 タイトル      Nontuberculous Mycobacteria: Skin and Soft Tissue Infections.
 雑誌        Dermatol Clin 33:563-77 (2015)
 DOI:10.1016/j.det.2015.03.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01458"">H01458</a>","非結核性抗酸菌症;
 非定型抗酸菌症
 下位グループ    肺 MAC 症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02029"">H02029</a>]
 Rapidly growing mycobacteria 感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01462"">H01462</a>]
 ブルーリ潰瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01042"">H01042</a>]","Mycobacteria species other than the obligate pathogens Mycobacterium tuberculosis complex and Mycobacterium leprae are known as nontuberculous mycobacteria (NTM) or atypical mycobacteria. NTM are normal inhabitants of soil and treated water. Although generally of low pathogenicity to humans, NTM can cause a wide range of clinical diseases, for instance, pulmonary disease is most frequent, followed by lymphadenitis in children, skin disease and other extrapulmonary or disseminated infections in the severely immunocompromised.",,,"Mycobacterium avium
 Mycobacterium intracellulare [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mit"">mit</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mia"">mia</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mir"">mir</a>]
 Mycobacterium chimaera [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mchi"">mchi</a>]
 Mycobacterium marinum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mmi"">mmi</a>]
 Mycobacterium sp. MOTT36Y [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mmm"">mmm</a>]
 Mycobacterium haemophilum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mhad"">mhad</a>]
 Mycobacterium shigaense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mshg"">mshg</a>]
 Mycobacterium florentinum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mfj"">mfj</a>]
 Mycobacterium stomatepiae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:msto"">msto</a>]
 Mycobacterium noviomagense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mnv"">mnv</a>]
 Mycobacterium seoulense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mseo"">mseo</a>]
 Mycobacterium heckeshornense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mhek"">mhek</a>]
 Mycobacterium gallinarum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgau"">mgau</a>]
 Mycobacterium doricum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mdr"">mdr</a>]
 Mycobacterium abscessus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mab"">mab</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mmv"">mmv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mabb"">mabb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mabl"">mabl</a>]
 Mycobacterium chelonae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mche"">mche</a>]
 Mycobacterium sp. JDM601 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mjd"">mjd</a>]
 Mycolicibacterium aichiense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:maic"">maic</a>]
 Mycolicibacterium insubricum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mij"">mij</a>]
 Mycolicibacterium alvei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:malv"">malv</a>]
 Mycolicibacterium aubagnense [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:maub"">maub</a>]
 Mycolicibacterium phocaicum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mphu"">mphu</a>]
 Mycolicibacterium celeriflavum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mcee"">mcee</a>]",,,"フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]
 リファンピシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00211"">D00211</a>]
 リファブチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00424"">D00424</a>]
 エタンブトール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00878"">D00878</a>]",,"ICD-11: 1B21
 ICD-10: A31.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009165"">D009165</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23460010"">23460010</a>
 著者        van Ingen J
 タイトル      Diagnosis of nontuberculous mycobacterial infections.
 雑誌        Semin Respir Crit Care Med 34:103-9 (2013)
 DOI:<a href=""https://doi.org/10.1055/s-0033-1333569"">10.1055/s-0033-1333569</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26143432"">26143432</a>
 著者        Gonzalez-Santiago TM, Drage LA
 タイトル      Nontuberculous Mycobacteria: Skin and Soft Tissue Infections.
 雑誌        Dermatol Clin 33:563-77 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.det.2015.03.017"">10.1016/j.det.2015.03.017</a>"
H01459,"糖尿病性神経障害
 上位グループ    糖尿病性細小血管合併症 [DS:H02559]",,,"Diabetic neuropathies (DNs) are nerve-damaging disorders caused by diabetes. Diabetic neuropathy broadly comprises generalized symmetric polyneuropathies (acute sensory, chronic sensorimotor, autonomic) and asymmetric (focal and multifocal) neuropathies (cranial, truncal, focal-limb, proximal-motor, coexisting chronic inflammatory demyelinating), which affect all organs and systems. Of all types, diabetic sensorimotor polyneuropathy (DSPN), also called distal symmetric neuropathy, is the most typical form. Typical symptoms vary from person to person, but may include numbness, tingling, pain, or weakness that typically starts in the feet and progresses up the legs. This pattern of neuropathy shows a progressive distal axonopathy. It has been reported that vascular endothelial growth factor A is associated with DNs development and progression.",内分泌代謝疾患; 神経系疾患,,VEGFA (polymorphism) [HSA:7422] [KO:K05448],,,,"塩酸デュロキセチン [DR:D01179]
 メキシレチン塩酸塩 [DR:D00639]
 エパルレスタット [DR:D01688]",Pregabalin [DR:D02716] (US and EU approved),"ICD-11: 8C03.0
 ICD-10: E14.4
 MeSH: D003929
 OMIM: 603933","PMID:16932298
 著者        Vinik A, Ullal J, Parson HK, Casellini CM
 タイトル      Diabetic neuropathies: clinical manifestations and current treatment options.
 雑誌        Nat Clin Pract Endocrinol Metab 2:269-81 (2006)
 DOI:10.1038/ncpendmet0142
 PMID:25252500
 著者        Gupta A, Gupta Y
 タイトル      Diabetic neuropathy: Part 1.
 雑誌        J Pak Med Assoc 64:714-8 (2014)
 PMID:16461471
 著者        Bansal V, Kalita J, Misra UK
 タイトル      Diabetic neuropathy.
 雑誌        Postgrad Med J 82:95-100 (2006)
 DOI:10.1136/pgmj.2005.036137
 PMID:26074879
 著者        Witzel II, Jelinek HF, Khalaf K, Lee S, Khandoker AH, Alsafar H
 タイトル      Identifying Common Genetic Risk Factors of Diabetic Neuropathies.
 雑誌        Front Endocrinol (Lausanne) 6:88 (2015)
 DOI:10.3389/fendo.2015.00088","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01459"">H01459</a>","糖尿病性神経障害
 上位グループ    糖尿病性細小血管合併症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02559"">H02559</a>]","Diabetic neuropathies (DNs) are nerve-damaging disorders caused by diabetes. Diabetic neuropathy broadly comprises generalized symmetric polyneuropathies (acute sensory, chronic sensorimotor, autonomic) and asymmetric (focal and multifocal) neuropathies (cranial, truncal, focal-limb, proximal-motor, coexisting chronic inflammatory demyelinating), which affect all organs and systems. Of all types, diabetic sensorimotor polyneuropathy (DSPN), also called distal symmetric neuropathy, is the most typical form. Typical symptoms vary from person to person, but may include numbness, tingling, pain, or weakness that typically starts in the feet and progresses up the legs. This pattern of neuropathy shows a progressive distal axonopathy. It has been reported that vascular endothelial growth factor A is associated with DNs development and progression.",,"VEGFA (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]",,,,"塩酸デュロキセチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01179"">D01179</a>]
 メキシレチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00639"">D00639</a>]
 エパルレスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01688"">D01688</a>]","Pregabalin [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02716"">D02716</a>] (US and EU approved)","ICD-11: 8C03.0
 ICD-10: E14.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003929"">D003929</a>
 OMIM: <a href=""https://www.omim.org/entry/603933"">603933</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16932298"">16932298</a>
 著者        Vinik A, Ullal J, Parson HK, Casellini CM
 タイトル      Diabetic neuropathies: clinical manifestations and current treatment options.
 雑誌        Nat Clin Pract Endocrinol Metab 2:269-81 (2006)
 DOI:<a href=""https://doi.org/10.1038/ncpendmet0142"">10.1038/ncpendmet0142</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25252500"">25252500</a>
 著者        Gupta A, Gupta Y
 タイトル      Diabetic neuropathy: Part 1.
 雑誌        J Pak Med Assoc 64:714-8 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16461471"">16461471</a>
 著者        Bansal V, Kalita J, Misra UK
 タイトル      Diabetic neuropathy.
 雑誌        Postgrad Med J 82:95-100 (2006)
 DOI:<a href=""https://doi.org/10.1136/pgmj.2005.036137"">10.1136/pgmj.2005.036137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26074879"">26074879</a>
 著者        Witzel II, Jelinek HF, Khalaf K, Lee S, Khandoker AH, Alsafar H
 タイトル      Identifying Common Genetic Risk Factors of Diabetic Neuropathies.
 雑誌        Front Endocrinol (Lausanne) 6:88 (2015)
 DOI:<a href=""https://doi.org/10.3389/fendo.2015.00088"">10.3389/fendo.2015.00088</a>"
H01460,"ウエスト症候群;
 点頭てんかん
 上位グループ    早期乳児てんかん性脳症 [DS:H00606]
 症候性全般てんかん [DS:H00577]",,,"West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin.",神経系疾患,,ARX [HSA:170302] [KO:K09452],,,,"ニトラゼパム [DR:D00531]
 トリメタジオン [DR:D00392]
 プリミドン [DR:D00474]
 エトスクシミド [DR:D00539]
 クロナゼパム [DR:D00280]
 ビガバトリン [DR:D00535]
 テトラコサクチド酢酸塩 [DR:D02105]",,"ICD-11: 8A62.0
 ICD-10: G40.4
 MeSH: D013036
 OMIM: 308350","PMID:25968935
 著者        Galanopoulou AS, Moshe SL
 タイトル      Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
 雑誌        Neurobiol Dis 79:135-49 (2015)
 DOI:10.1016/j.nbd.2015.04.015
 PMID:23312951
 著者        Galanopoulou AS
 タイトル      Basic mechanisms of catastrophic epilepsy -- overview from animal models.
 雑誌        Brain Dev 35:748-56 (2013)
 DOI:10.1016/j.braindev.2012.12.005
 PMID:20618396
 著者        Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS
 タイトル      Modeling new therapies for infantile spasms.
 雑誌        Epilepsia 51 Suppl 3:27-33 (2010)
 DOI:10.1111/j.1528-1167.2010.02605.x
 PMID:20608959
 著者        Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW
 タイトル      Infantile spasms: a U.S. consensus report.
 雑誌        Epilepsia 51:2175-89 (2010)
 DOI:10.1111/j.1528-1167.2010.02657.x
 PMID:17668384
 著者        Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
 タイトル      A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
 雑誌        Am J Hum Genet 81:361-6 (2007)
 DOI:10.1086/518903","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01460"">H01460</a>","ウエスト症候群;
 点頭てんかん
 上位グループ    早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin.",,"ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]",,,,"ニトラゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00531"">D00531</a>]
 トリメタジオン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00392"">D00392</a>]
 プリミドン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00474"">D00474</a>]
 エトスクシミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00539"">D00539</a>]
 クロナゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00280"">D00280</a>]
 ビガバトリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00535"">D00535</a>]
 テトラコサクチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02105"">D02105</a>]",,"ICD-11: 8A62.0
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013036"">D013036</a>
 OMIM: <a href=""https://www.omim.org/entry/308350"">308350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25968935"">25968935</a>
 著者        Galanopoulou AS, Moshe SL
 タイトル      Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
 雑誌        Neurobiol Dis 79:135-49 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2015.04.015"">10.1016/j.nbd.2015.04.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23312951"">23312951</a>
 著者        Galanopoulou AS
 タイトル      Basic mechanisms of catastrophic epilepsy -- overview from animal models.
 雑誌        Brain Dev 35:748-56 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2012.12.005"">10.1016/j.braindev.2012.12.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20618396"">20618396</a>
 著者        Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS
 タイトル      Modeling new therapies for infantile spasms.
 雑誌        Epilepsia 51 Suppl 3:27-33 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2010.02605.x"">10.1111/j.1528-1167.2010.02605.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20608959"">20608959</a>
 著者        Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW
 タイトル      Infantile spasms: a U.S. consensus report.
 雑誌        Epilepsia 51:2175-89 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2010.02657.x"">10.1111/j.1528-1167.2010.02657.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17668384"">17668384</a>
 著者        Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
 タイトル      A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
 雑誌        Am J Hum Genet 81:361-6 (2007)
 DOI:<a href=""https://doi.org/10.1086/518903"">10.1086/518903</a>"
H01461,"クロウ・深瀬症候群;
 POEMS 症候群",,,"Crow-Fukase syndrome, also called POEMS syndrome, is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes as its salient features. Major diagnostic criteria include sclerotic bone lesions, elevated serum or plasma levels of vascular endothelial growth factor (VEGF), and Castleman disease. The misdiagnosis is very common due to its rarity and complicated clinical manifestations. Recognition of the complex of clinical complications is the first step in effectively managing the disease. The pathogenesis is not well understood. VEGF appears to play an important role in the disease and is especially useful for monitoring therapy, but it is not likely the sole factor driving the disease. The most commonly used therapies include alkylators and steroids, high-dose chemotherapy with peripheral blood stem cell transplantation, lenalidomide, and bortezomib.",その他の疾患,,,,,,サリドマイド [DR:D00754],,"ICD-11: 2A83.Y
 ICD-10: D47.7
 MeSH: D016878","PMID:24624542
 著者        Dispenzieri A, Buadi FK
 タイトル      A review of POEMS syndrome.
 雑誌        Oncology (Williston Park) 27:1242-50 (2013)
 PMID:24519469
 著者        Cui RT, Yu SY, Huang XS, Zhang JT, Tian CL, Dou LP, Pu CQ
 タイトル      Incidence and risk factors of pleural effusions in patients with POEMS syndrome.
 雑誌        Hematol Oncol 33:80-4 (2015)
 DOI:10.1002/hon.2135
 PMID:25288371
 著者        Raheja D, Specht C, Simmons Z
 タイトル      Paraproteinemic neuropathies.
 雑誌        Muscle Nerve 51:1-13 (2015)
 DOI:10.1002/mus.24471","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01461"">H01461</a>","クロウ・深瀬症候群;
 POEMS 症候群","Crow-Fukase syndrome, also called POEMS syndrome, is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes as its salient features. Major diagnostic criteria include sclerotic bone lesions, elevated serum or plasma levels of vascular endothelial growth factor (VEGF), and Castleman disease. The misdiagnosis is very common due to its rarity and complicated clinical manifestations. Recognition of the complex of clinical complications is the first step in effectively managing the disease. The pathogenesis is not well understood. VEGF appears to play an important role in the disease and is especially useful for monitoring therapy, but it is not likely the sole factor driving the disease. The most commonly used therapies include alkylators and steroids, high-dose chemotherapy with peripheral blood stem cell transplantation, lenalidomide, and bortezomib.",,,,,,"サリドマイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00754"">D00754</a>]",,"ICD-11: 2A83.Y
 ICD-10: D47.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016878"">D016878</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24624542"">24624542</a>
 著者        Dispenzieri A, Buadi FK
 タイトル      A review of POEMS syndrome.
 雑誌        Oncology (Williston Park) 27:1242-50 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24519469"">24519469</a>
 著者        Cui RT, Yu SY, Huang XS, Zhang JT, Tian CL, Dou LP, Pu CQ
 タイトル      Incidence and risk factors of pleural effusions in patients with POEMS syndrome.
 雑誌        Hematol Oncol 33:80-4 (2015)
 DOI:<a href=""https://doi.org/10.1002/hon.2135"">10.1002/hon.2135</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25288371"">25288371</a>
 著者        Raheja D, Specht C, Simmons Z
 タイトル      Paraproteinemic neuropathies.
 雑誌        Muscle Nerve 51:1-13 (2015)
 DOI:<a href=""https://doi.org/10.1002/mus.24471"">10.1002/mus.24471</a>"
H01462,"Rapidly growing mycobacteria 感染症
 上位グループ    非結核性抗酸菌症 [DS:H01458]",,,"Nontuberculous mycobacteria (NTM) are classified into 2 categories: slow-growing mycobacteria (SGM) and rapidly-growing mycobacteria (RGM), based on interval to colony formation by subculture on solid media. More than 50 species of RGM have been identified, more than a third of which are opportunistic human pathogens. The most frequently encountered RGM that cause human infections are Mycobacterium abscessus, Mycobacterium chelonae, Mycobacterium fortuitum (complex), Mycobacterium mucogenicum, and Mycobacterium neoaurum. RGM, generally of low virulence, are capable of causing a wide spectrum of infections. Many RGM species, well-known and recently described species, caused significant infections in patients with cancer, including catheter-related bacteremia, disseminated infection, bronchopulmonary infections, dermatitis, cellulitis, and others.",感染症,,,"Mycobacterium abscessus [GN:mab mmv mabb mabl]
 Mycobacterium chelonae [GN:mche]",,,,See also H01458 Nontuberculous mycobacterial infection.,"ICD-11: 1B21
 ICD-10: A31.9
 MeSH: D009165","PMID:23114094
 著者        Kim CJ, Kim NH, Song KH, Choe PG, Kim ES, Park SW, Kim HB, Kim NJ, Kim EC, Park WB, Oh MD
 タイトル      Differentiating rapid- and slow-growing mycobacteria by difference in time to growth detection in liquid media.
 雑誌        Diagn Microbiol Infect Dis 75:73-6 (2013)
 DOI:10.1016/j.diagmicrobio.2012.09.019
 PMID:25503461
 著者        Sekizuka T, Kai M, Nakanaga K, Nakata N, Kazumi Y, Maeda S, Makino M, Hoshino Y, Kuroda M
 タイトル      Complete genome sequence and comparative genomic analysis of Mycobacterium massiliense JCM 15300 in the Mycobacterium abscessus group reveal a conserved genomic island MmGI-1 related to putative lipid metabolism.
 雑誌        PLoS One 9:e114848 (2014)
 DOI:10.1371/journal.pone.0114848
 PMID:23347634
 著者        El Helou G, Viola GM, Hachem R, Han XY, Raad II
 タイトル      Rapidly growing mycobacterial bloodstream infections.
 雑誌        Lancet Infect Dis 13:166-74 (2013)
 DOI:10.1016/S1473-3099(12)70316-X
 PMID:17875513
 著者        Han XY, De I, Jacobson KL
 タイトル      Rapidly growing mycobacteria: clinical and microbiologic studies of 115 cases.
 雑誌        Am J Clin Pathol 128:612-21 (2007)
 DOI:10.1309/1KB2GKYT1BUEYLB5
 PMID:16705584
 著者        De Groote MA, Huitt G
 タイトル      Infections due to rapidly growing mycobacteria.
 雑誌        Clin Infect Dis 42:1756-63 (2006)
 DOI:10.1086/504381","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01462"">H01462</a>","Rapidly growing mycobacteria 感染症
 上位グループ    非結核性抗酸菌症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01458"">H01458</a>]","Nontuberculous mycobacteria (NTM) are classified into 2 categories: slow-growing mycobacteria (SGM) and rapidly-growing mycobacteria (RGM), based on interval to colony formation by subculture on solid media. More than 50 species of RGM have been identified, more than a third of which are opportunistic human pathogens. The most frequently encountered RGM that cause human infections are Mycobacterium abscessus, Mycobacterium chelonae, Mycobacterium fortuitum (complex), Mycobacterium mucogenicum, and Mycobacterium neoaurum. RGM, generally of low virulence, are capable of causing a wide spectrum of infections. Many RGM species, well-known and recently described species, caused significant infections in patients with cancer, including catheter-related bacteremia, disseminated infection, bronchopulmonary infections, dermatitis, cellulitis, and others.",,,"Mycobacterium abscessus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mab"">mab</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mmv"">mmv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mabb"">mabb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mabl"">mabl</a>]
 Mycobacterium chelonae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mche"">mche</a>]",,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01458"">H01458</a> Nontuberculous mycobacterial infection.","ICD-11: 1B21
 ICD-10: A31.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009165"">D009165</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23114094"">23114094</a>
 著者        Kim CJ, Kim NH, Song KH, Choe PG, Kim ES, Park SW, Kim HB, Kim NJ, Kim EC, Park WB, Oh MD
 タイトル      Differentiating rapid- and slow-growing mycobacteria by difference in time to growth detection in liquid media.
 雑誌        Diagn Microbiol Infect Dis 75:73-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.diagmicrobio.2012.09.019"">10.1016/j.diagmicrobio.2012.09.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25503461"">25503461</a>
 著者        Sekizuka T, Kai M, Nakanaga K, Nakata N, Kazumi Y, Maeda S, Makino M, Hoshino Y, Kuroda M
 タイトル      Complete genome sequence and comparative genomic analysis of Mycobacterium massiliense JCM 15300 in the Mycobacterium abscessus group reveal a conserved genomic island MmGI-1 related to putative lipid metabolism.
 雑誌        PLoS One 9:e114848 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0114848"">10.1371/journal.pone.0114848</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23347634"">23347634</a>
 著者        El Helou G, Viola GM, Hachem R, Han XY, Raad II
 タイトル      Rapidly growing mycobacterial bloodstream infections.
 雑誌        Lancet Infect Dis 13:166-74 (2013)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(12)70316-X"">10.1016/S1473-3099(12)70316-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17875513"">17875513</a>
 著者        Han XY, De I, Jacobson KL
 タイトル      Rapidly growing mycobacteria: clinical and microbiologic studies of 115 cases.
 雑誌        Am J Clin Pathol 128:612-21 (2007)
 DOI:<a href=""https://doi.org/10.1309/1KB2GKYT1BUEYLB5"">10.1309/1KB2GKYT1BUEYLB5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16705584"">16705584</a>
 著者        De Groote MA, Huitt G
 タイトル      Infections due to rapidly growing mycobacteria.
 雑誌        Clin Infect Dis 42:1756-63 (2006)
 DOI:<a href=""https://doi.org/10.1086/504381"">10.1086/504381</a>"
H01463,"菌状息肉腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with erythematous patches, plaques, and less frequently, tumours. Although the aetiologies of MF are unknown, important insights have been gained in the immunological and genetic perturbations that are associated with these diseases. Mutations in the p53, p15, p16, JunB, and PTEN genes generally occur in later-stage disease. Loss of normal apoptotic T-cell pathways has also been reported. Apoptosis is partly mediated by death receptors, notably Fas, which is part of the tumor necrosis factor family of receptors. Decreased and/or defective Fas expression by neoplastic T cells has been associated with advanced/aggressive disease and impaired Fas-mediated apoptosis.",がん,,"p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621]
 p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685]
 PTEN (mutation) [HSA:5728] [KO:K01110]
 p53 (mutation) [HSA:7157] [KO:K04451]
 JUNB (mutation) [HSA:3726] [KO:K09028]
 Fas (loss of expression) [HSA:355] [KO:K04390]
 Nav3 (deletion) [HSA:89795] [KO:K23919]
 c-MYC (amplification) [HSA:4609] [KO:K04377]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 フルドロキシコルチド [DR:D00328]
 ジフロラゾン酢酸エステル [DR:D01327]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 モガムリズマブ [DR:D09761]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ベキサロテン [DR:D03106]
 ボリノスタット [DR:D06320]
 L-アスパラギナーゼ [DR:D02997]
 デニロイキンジフチトクス [DR:D03682]
 ソブゾキサン [DR:D01404]
 インターフェロンガンマ-1a [DR:D03357]",,"ICD-11: 2B01
 ICD-10: C84
 MeSH: D009182","PMID:18342689
 著者        Hwang ST, Janik JE, Jaffe ES, Wilson WH
 タイトル      Mycosis fungoides and Sezary syndrome.
 雑誌        Lancet 371:945-57 (2008)
 DOI:10.1016/S0140-6736(08)60420-1
 PMID:21371258
 著者        Beyer M, Mobs M, Humme D, Sterry W
 タイトル      Pathogenesis of Mycosis fungoides.
 雑誌        J Dtsch Dermatol Ges 9:594-8 (2011)
 DOI:10.1111/j.1610-0387.2011.07635.x
 PMID:24438969
 著者        Jawed SI, Myskowski PL, Horwitz S, Moskowitz A, Querfeld C
 タイトル      Primary cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome): part I. Diagnosis: clinical and histopathologic features and new molecular and biologic markers.
 雑誌        J Am Acad Dermatol 70:205.e1-16; quiz 221-2 (2014)
 DOI:10.1016/j.jaad.2013.07.049
 PMID:20118908
 著者        Laharanne E, Chevret E, Idrissi Y, Gentil C, Longy M, Ferrer J, Dubus P, Jouary T, Vergier B, Beylot-Barry M, Merlio JP
 タイトル      CDKN2A-CDKN2B deletion defines an aggressive subset of cutaneous T-cell lymphoma.
 雑誌        Mod Pathol 23:547-58 (2010)
 DOI:10.1038/modpathol.2009.196
 PMID:18976417
 著者        Smoller BR
 タイトル      Mycosis fungoides: what do/do not we know?
 雑誌        J Cutan Pathol 35 Suppl 2:35-9 (2008)
 DOI:10.1111/j.1600-0560.2008.01120.x
 PMID:16166283
 著者        Karenko L, Hahtola S, Paivinen S, Karhu R, Syrja S, Kahkonen M, Nedoszytko B, Kytola S, Zhou Y, Blazevic V, Pesonen M, Nevala H, Nupponen N, Sihto H, Krebs I, Poustka A, Roszkiewicz J, Saksela K, Peterson P, Visakorpi T, Ranki A
 タイトル      Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue.
 雑誌        Cancer Res 65:8101-10 (2005)
 DOI:10.1158/0008-5472.CAN-04-0366
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:24841586 (drug)
 著者        Wu PA, Huang V, Bigby ME
 タイトル      Interventions for mycosis fungoides: critical commentary on a Cochrane Systematic Review.
 雑誌        Br J Dermatol 170:1015-20 (2014)
 DOI:10.1111/bjd.12954
 PMID:20568590 (drug)
 著者        Galper SL, Smith BD, Wilson LD
 タイトル      Diagnosis and management of mycosis fungoides.
 雑誌        Oncology (Williston Park) 24:491-501 (2010)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01463"">H01463</a>","菌状息肉腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with erythematous patches, plaques, and less frequently, tumours. Although the aetiologies of MF are unknown, important insights have been gained in the immunological and genetic perturbations that are associated with these diseases. Mutations in the p53, p15, p16, JunB, and PTEN genes generally occur in later-stage disease. Loss of normal apoptotic T-cell pathways has also been reported. Apoptosis is partly mediated by death receptors, notably Fas, which is part of the tumor necrosis factor family of receptors. Decreased and/or defective Fas expression by neoplastic T cells has been associated with advanced/aggressive disease and impaired Fas-mediated apoptosis.",,"p16/INK4a, ARF (mutation,deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 p15/INK4b (mutation, deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 PTEN (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 JUNB (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3726"">3726</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09028"">K09028</a>]
 Fas (loss of expression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:355"">355</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04390"">K04390</a>]
 Nav3 (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89795"">89795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23919"">K23919</a>]
 c-MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 フルドロキシコルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00328"">D00328</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 モガムリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09761"">D09761</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ベキサロテン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03106"">D03106</a>]
 ボリノスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06320"">D06320</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 デニロイキンジフチトクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03682"">D03682</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 インターフェロンガンマ-1a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03357"">D03357</a>]",,"ICD-11: 2B01
 ICD-10: C84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009182"">D009182</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18342689"">18342689</a>
 著者        Hwang ST, Janik JE, Jaffe ES, Wilson WH
 タイトル      Mycosis fungoides and Sezary syndrome.
 雑誌        Lancet 371:945-57 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60420-1"">10.1016/S0140-6736(08)60420-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21371258"">21371258</a>
 著者        Beyer M, Mobs M, Humme D, Sterry W
 タイトル      Pathogenesis of Mycosis fungoides.
 雑誌        J Dtsch Dermatol Ges 9:594-8 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1610-0387.2011.07635.x"">10.1111/j.1610-0387.2011.07635.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24438969"">24438969</a>
 著者        Jawed SI, Myskowski PL, Horwitz S, Moskowitz A, Querfeld C
 タイトル      Primary cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome): part I. Diagnosis: clinical and histopathologic features and new molecular and biologic markers.
 雑誌        J Am Acad Dermatol 70:205.e1-16; quiz 221-2 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2013.07.049"">10.1016/j.jaad.2013.07.049</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20118908"">20118908</a>
 著者        Laharanne E, Chevret E, Idrissi Y, Gentil C, Longy M, Ferrer J, Dubus P, Jouary T, Vergier B, Beylot-Barry M, Merlio JP
 タイトル      CDKN2A-CDKN2B deletion defines an aggressive subset of cutaneous T-cell lymphoma.
 雑誌        Mod Pathol 23:547-58 (2010)
 DOI:<a href=""https://doi.org/10.1038/modpathol.2009.196"">10.1038/modpathol.2009.196</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18976417"">18976417</a>
 著者        Smoller BR
 タイトル      Mycosis fungoides: what do/do not we know?
 雑誌        J Cutan Pathol 35 Suppl 2:35-9 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0560.2008.01120.x"">10.1111/j.1600-0560.2008.01120.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16166283"">16166283</a>
 著者        Karenko L, Hahtola S, Paivinen S, Karhu R, Syrja S, Kahkonen M, Nedoszytko B, Kytola S, Zhou Y, Blazevic V, Pesonen M, Nevala H, Nupponen N, Sihto H, Krebs I, Poustka A, Roszkiewicz J, Saksela K, Peterson P, Visakorpi T, Ranki A
 タイトル      Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue.
 雑誌        Cancer Res 65:8101-10 (2005)
 DOI:<a href=""https://doi.org/10.1158/0008-5472.CAN-04-0366"">10.1158/0008-5472.CAN-04-0366</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24841586"">24841586</a> (drug)
 著者        Wu PA, Huang V, Bigby ME
 タイトル      Interventions for mycosis fungoides: critical commentary on a Cochrane Systematic Review.
 雑誌        Br J Dermatol 170:1015-20 (2014)
 DOI:<a href=""https://doi.org/10.1111/bjd.12954"">10.1111/bjd.12954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20568590"">20568590</a> (drug)
 著者        Galper SL, Smith BD, Wilson LD
 タイトル      Diagnosis and management of mycosis fungoides.
 雑誌        Oncology (Williston Park) 24:491-501 (2010)"
H01464,"マントル細胞リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin lymphoma (NHL) and it accounts for about 6% of all NHL cases. Diagnosis is based on lymph node, bone marrow, or tissue morphology of centrocytic lymphocytes, small cell type, or blastoid variant cells. The molecular hallmark and putative initiating oncogenic event in MCL is the t(11;14)(q13;q32) translocation resulting in constitutional overexpression of cyclin D1 and cell cycle dysregulation in almost all cases. Clinically, MCL shows an aggressive clinical course with a continuous relapse pattern and a median survival of only 3-5 years. However, recently a subset of 15% long-term survivors has been identified with a rather indolent clinical course.",がん,,"Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
 p16/INK4a (deletion) [HSA:1029] [KO:K06621]
 p53 (mutation) [HSA:7157] [KO:K04451]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ベンダムスチン塩酸塩 [DR:D07085]
 ベンダムスチン塩酸塩水和物 [DR:D11661]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 クラドリビン [DR:D01370]
 ミトキサントロン塩酸塩 [DR:D02166]
 イブルチニブ [DR:D10223]
 リツキシマブ [DR:D02994] (CD20陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ボルテゾミブ [DR:D03150]
 L-アスパラギナーゼ [DR:D02997]
 イブリツモマブチウキセタン [DR:D04489] (CD20陽性)
 ソブゾキサン [DR:D01404]",,"ICD-11: 2A85.5
 ICD-10: C83
 MeSH: D020522","PMID:26103436 (description, gene, drug)
 著者        Vose JM
 タイトル      Mantle cell lymphoma: 2015 update on diagnosis, risk-stratification, and clinical management.
 雑誌        Am J Hematol 90:739-45 (2015)
 DOI:10.1002/ajh.24094
 PMID:24559208
 著者        Wang Y, Ma S
 タイトル      Risk factors for etiology and prognosis of mantle cell lymphoma.
 雑誌        Expert Rev Hematol 7:233-43 (2014)
 DOI:10.1586/17474086.2014.889561
 PMID:26755518 (description, gene, drug)
 著者        Cheah CY, Seymour JF, Wang ML
 タイトル      Mantle Cell Lymphoma.
 雑誌        J Clin Oncol 34:1256-69 (2016)
 DOI:10.1200/JCO.2015.63.5904
 PMID:24857076 (description, gene, drug)
 著者        Dreyling M
 タイトル      Mantle cell lymphoma: biology, clinical presentation, and therapeutic approaches.
 雑誌        Am Soc Clin Oncol Educ Book 191-8 (2014)
 DOI:10.14694/EdBook_AM.2014.34.191
 PMID:24974852 (drug)
 著者        Chen Y, Wang M, Romaguera J
 タイトル      Current regimens and novel agents for mantle cell lymphoma.
 雑誌        Br J Haematol 167:3-18 (2014)
 DOI:10.1111/bjh.13000
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01464"">H01464</a>","マントル細胞リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin lymphoma (NHL) and it accounts for about 6% of all NHL cases. Diagnosis is based on lymph node, bone marrow, or tissue morphology of centrocytic lymphocytes, small cell type, or blastoid variant cells. The molecular hallmark and putative initiating oncogenic event in MCL is the t(11;14)(q13;q32) translocation resulting in constitutional overexpression of cyclin D1 and cell cycle dysregulation in almost all cases. Clinically, MCL shows an aggressive clinical course with a continuous relapse pattern and a median survival of only 3-5 years. However, recently a subset of 15% long-term survivors has been identified with a rather indolent clinical course.",,"Cyclin D1 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:595"">595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04503"">K04503</a>]
 p16/INK4a (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 p53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ベンダムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07085"">D07085</a>]
 ベンダムスチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11661"">D11661</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 クラドリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01370"">D01370</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 イブルチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10223"">D10223</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ボルテゾミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03150"">D03150</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 イブリツモマブチウキセタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04489"">D04489</a>] (CD20陽性)
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]",,"ICD-11: 2A85.5
 ICD-10: C83
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020522"">D020522</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26103436"">26103436</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Vose JM
 タイトル      Mantle cell lymphoma: 2015 update on diagnosis, risk-stratification, and clinical management.
 雑誌        Am J Hematol 90:739-45 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajh.24094"">10.1002/ajh.24094</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24559208"">24559208</a>
 著者        Wang Y, Ma S
 タイトル      Risk factors for etiology and prognosis of mantle cell lymphoma.
 雑誌        Expert Rev Hematol 7:233-43 (2014)
 DOI:<a href=""https://doi.org/10.1586/17474086.2014.889561"">10.1586/17474086.2014.889561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26755518"">26755518</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Cheah CY, Seymour JF, Wang ML
 タイトル      Mantle Cell Lymphoma.
 雑誌        J Clin Oncol 34:1256-69 (2016)
 DOI:<a href=""https://doi.org/10.1200/JCO.2015.63.5904"">10.1200/JCO.2015.63.5904</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24857076"">24857076</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Dreyling M
 タイトル      Mantle cell lymphoma: biology, clinical presentation, and therapeutic approaches.
 雑誌        Am Soc Clin Oncol Educ Book 191-8 (2014)
 DOI:<a href=""https://doi.org/10.14694/EdBook_AM.2014.34.191"">10.14694/EdBook_AM.2014.34.191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24974852"">24974852</a> (drug)
 著者        Chen Y, Wang M, Romaguera J
 タイトル      Current regimens and novel agents for mantle cell lymphoma.
 雑誌        Br J Haematol 167:3-18 (2014)
 DOI:<a href=""https://doi.org/10.1111/bjh.13000"">10.1111/bjh.13000</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education"
H01465,"大型血管炎
 下位グループ    巨細胞性動脈炎 (GCA) [DS:H01698]
 高安動脈炎 (TAK)",,,"Large vessel vasculitis (LVV) covers a spectrum of primary vasculitides predominantly affecting the aorta and its major branches. Giant cell arteritis (GCA) and Takayasu arteritis (TAK) are the two main subtypes. GCA is the most common vasculitis affecting adults aged 50 years or more, while TAK is a rare vasculitis that affects younger individuals mainly under 40 years. Clinical presentations vary from asymptomatic to significant systemic symptoms such as fever, weight loss, and symptoms that result from aortitis and high inflammatory markers; C-reactive protein (CRP); and erythrocyte sedimentation rate (ESR) levels. Glucocorticoids are the mainstay of therapy of LVV. Patients may develop predictable adverse effects from long-term glucocorticoid use.",,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]
 トシリズマブ [DR:D02596]",,"ICD-11: 4A44.Y
 ICD-10: M31.4 M31.6
 MeSH: D013700 D013625","PMID:24893935
 著者        Chatterjee S, Flamm SD, Tan CD, Rodriguez ER
 タイトル      Clinical diagnosis and management of large vessel vasculitis: giant cell arteritis.
 雑誌        Curr Cardiol Rep 16:498 (2014)
 DOI:10.1007/s11886-014-0498-z
 PMID:23949338 (description, drug)
 著者        Al-Homood IA
 タイトル      Tocilizumab: a new therapy for large vessel vasculitis.
 雑誌        Clin Exp Med 14:355-60 (2014)
 DOI:10.1007/s10238-013-0254-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01465"">H01465</a>","大型血管炎
 下位グループ    巨細胞性動脈炎 (GCA) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01698"">H01698</a>]
 高安動脈炎 (TAK)","Large vessel vasculitis (LVV) covers a spectrum of primary vasculitides predominantly affecting the aorta and its major branches. Giant cell arteritis (GCA) and Takayasu arteritis (TAK) are the two main subtypes. GCA is the most common vasculitis affecting adults aged 50 years or more, while TAK is a rare vasculitis that affects younger individuals mainly under 40 years. Clinical presentations vary from asymptomatic to significant systemic symptoms such as fever, weight loss, and symptoms that result from aortitis and high inflammatory markers; C-reactive protein (CRP); and erythrocyte sedimentation rate (ESR) levels. Glucocorticoids are the mainstay of therapy of LVV. Patients may develop predictable adverse effects from long-term glucocorticoid use.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]",,"ICD-11: 4A44.Y
 ICD-10: M31.4 M31.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013700"">D013700</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013625"">D013625</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24893935"">24893935</a>
 著者        Chatterjee S, Flamm SD, Tan CD, Rodriguez ER
 タイトル      Clinical diagnosis and management of large vessel vasculitis: giant cell arteritis.
 雑誌        Curr Cardiol Rep 16:498 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11886-014-0498-z"">10.1007/s11886-014-0498-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23949338"">23949338</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Al-Homood IA
 タイトル      Tocilizumab: a new therapy for large vessel vasculitis.
 雑誌        Clin Exp Med 14:355-60 (2014)
 DOI:<a href=""https://doi.org/10.1007/s10238-013-0254-5"">10.1007/s10238-013-0254-5</a>"
H01466,"潰瘍性大腸炎
 上位グループ    炎症性腸疾患 (IBD) [DS:H01227]",,,"Ulcerative colitis (UC) is one subtype of inflammatory bowel disease (IBD) whose pathogenesis is multifactorial and includes influences from genes, the environment, and the gut microbiome. In UC the inflammatory is limited to the mucosa of the colon and rectum. Clinically, the most common manifestation of UC may include bloody diarrhea, abdominal pain. In most severe cases, patients may experience fever, weight loss, anemia, and the intestine can get distended, presenting deep ulceration and possibly intestinal perforation.The long-time duration of the disease increases a colorectal cancer risk. UC is associated with a Th2 immune response. Recent genetic analyses have linked genes including interleukin 23 receptor, interleukin 10 and macrophage stimulating 1.",免疫系疾患,,"IL23R [HSA:149233] [KO:K05065]
 IL10 [HSA:3586] [KO:K05443]
 IL37 [HSA:27178] [KO:K05485]
 MST1 [HSA:4485] [KO:K23441]",Fusobacterium varium [GN:fva],,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 タクロリムス水和物 [DR:D00107]
 ブデソニド [DR:D00246]
 メサラジン [DR:D00377]
 ベドリズマブ [DR:D08083]
 インフリキシマブ [DR:D02598]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンリン酸エステルナトリウム [DR:D00981]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 トファシチニブクエン酸塩 [DR:D09783]
 フィルゴチニブマレイン酸塩 [DR:D11106]
 アダリムマブ [DR:D02597]
 ゴリムマブ [DR:D04358]
 ウステキヌマブ [DR:D09214]
 アザチオプリン [DR:D00238]
 サラゾスルファピリジン [DR:D00448]",,"ICD-11: DD71
 ICD-10: K51
 MeSH: D003093
 OMIM: 612261 619398","PMID:26339135
 著者        de Mattos BR, Garcia MP, Nogueira JB, Paiatto LN, Albuquerque CG, Souza CL, Fernandes LG, Tamashiro WM, Simioni PU
 タイトル      Inflammatory Bowel Disease: An Overview of Immune Mechanisms and Biological Treatments.
 雑誌        Mediators Inflamm 2015:493012 (2015)
 DOI:10.1155/2015/493012
 PMID:19923578
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:10.1056/NEJMra0804647
 PMID:17068223 (IL23R)
 著者        Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
 タイトル      A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
 雑誌        Science 314:1461-3 (2006)
 DOI:10.1126/science.1135245
 PMID:18836448 (IL10)
 著者        Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, Mathew CG, Schreiber S
 タイトル      Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
 雑誌        Nat Genet 40:1319-23 (2008)
 DOI:10.1038/ng.221
 PMID:33674380 (IL37)
 著者        Zhang ZZ, Zhang Y, He T, Sweeney CL, Baris S, Karakoc-Aydiner E, Yao Y, Ertem D, Matthews HF, Gonzaga-Jauregui C, Malech HL, Su HC, Ozen A, Smith KGC, Lenardo MJ
 タイトル      Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
 雑誌        Proc Natl Acad Sci U S A 118:e2009217118 (2021)
 DOI:10.1073/pnas.2009217118
 PMID:22237417 (MST1)
 著者        Hauser F, Deyle C, Berard D, Neukirch C, Glowacki C, Bickmann JK, Wenzel JJ, Lackner KJ, Rossmann H
 タイトル      Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease.
 雑誌        Genes Immun 13:321-7 (2012)
 DOI:10.1038/gene.2011.88","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01466"">H01466</a>","潰瘍性大腸炎
 上位グループ    炎症性腸疾患 (IBD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01227"">H01227</a>]","Ulcerative colitis (UC) is one subtype of inflammatory bowel disease (IBD) whose pathogenesis is multifactorial and includes influences from genes, the environment, and the gut microbiome. In UC the inflammatory is limited to the mucosa of the colon and rectum. Clinically, the most common manifestation of UC may include bloody diarrhea, abdominal pain. In most severe cases, patients may experience fever, weight loss, anemia, and the intestine can get distended, presenting deep ulceration and possibly intestinal perforation.The long-time duration of the disease increases a colorectal cancer risk. UC is associated with a Th2 immune response. Recent genetic analyses have linked genes including interleukin 23 receptor, interleukin 10 and macrophage stimulating 1.",,"IL23R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149233"">149233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05065"">K05065</a>]
 IL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 IL37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27178"">27178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05485"">K05485</a>]
 MST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4485"">4485</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23441"">K23441</a>]","Fusobacterium varium [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:fva"">fva</a>]",,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 ブデソニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00246"">D00246</a>]
 メサラジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00377"">D00377</a>]
 ベドリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08083"">D08083</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00981"">D00981</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 トファシチニブクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09783"">D09783</a>]
 フィルゴチニブマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11106"">D11106</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 ゴリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04358"">D04358</a>]
 ウステキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09214"">D09214</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 サラゾスルファピリジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00448"">D00448</a>]",,"ICD-11: DD71
 ICD-10: K51
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003093"">D003093</a>
 OMIM: <a href=""https://www.omim.org/entry/612261"">612261</a> <a href=""https://www.omim.org/entry/619398"">619398</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26339135"">26339135</a>
 著者        de Mattos BR, Garcia MP, Nogueira JB, Paiatto LN, Albuquerque CG, Souza CL, Fernandes LG, Tamashiro WM, Simioni PU
 タイトル      Inflammatory Bowel Disease: An Overview of Immune Mechanisms and Biological Treatments.
 雑誌        Mediators Inflamm 2015:493012 (2015)
 DOI:<a href=""https://doi.org/10.1155/2015/493012"">10.1155/2015/493012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19923578"">19923578</a>
 著者        Abraham C, Cho JH
 タイトル      Inflammatory bowel disease.
 雑誌        N Engl J Med 361:2066-78 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMra0804647"">10.1056/NEJMra0804647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17068223"">17068223</a> (IL23R)
 著者        Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
 タイトル      A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
 雑誌        Science 314:1461-3 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1135245"">10.1126/science.1135245</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18836448"">18836448</a> (IL10)
 著者        Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, Mathew CG, Schreiber S
 タイトル      Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
 雑誌        Nat Genet 40:1319-23 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.221"">10.1038/ng.221</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33674380"">33674380</a> (IL37)
 著者        Zhang ZZ, Zhang Y, He T, Sweeney CL, Baris S, Karakoc-Aydiner E, Yao Y, Ertem D, Matthews HF, Gonzaga-Jauregui C, Malech HL, Su HC, Ozen A, Smith KGC, Lenardo MJ
 タイトル      Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
 雑誌        Proc Natl Acad Sci U S A 118:e2009217118 (2021)
 DOI:<a href=""https://doi.org/10.1073/pnas.2009217118"">10.1073/pnas.2009217118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22237417"">22237417</a> (MST1)
 著者        Hauser F, Deyle C, Berard D, Neukirch C, Glowacki C, Bickmann JK, Wenzel JJ, Lackner KJ, Rossmann H
 タイトル      Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease.
 雑誌        Genes Immun 13:321-7 (2012)
 DOI:<a href=""https://doi.org/10.1038/gene.2011.88"">10.1038/gene.2011.88</a>"
H01467,原発性胆汁性肝硬変,,,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease characterised by destruction of small intrahepatic bile ducts, eventually leading to fibrosis and potential cirrhosis. Patients are usually middle-aged women and presents in the fifth or sixth decade of life. The most common symptoms are pruritus. It is not clear what causes PBC. It may be relate to problems in the autoimmune mechanism. The increased risk of genetic predisposition and environmental factors (infectious or toxic agents) trigger the disease. Ursodeoxycholic acid is currently the only medicine approved for the treatment of the disease.",消化器系疾患,,,,"Chemical toxins
 Xenobiotics
 Smoking",,ウルソデオキシコール酸 [DR:D00734],,"ICD-11: DB96.1
 ICD-10: K74.3
 MeSH: D008105","PMID:26250073
 著者        Webb GJ, Siminovitch KA, Hirschfield GM
 タイトル      The immunogenetics of primary biliary cirrhosis: A comprehensive review.
 雑誌        J Autoimmun 64:42-52 (2015)
 DOI:10.1016/j.jaut.2015.07.004
 PMID:19458352
 著者        Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA
 タイトル      Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
 雑誌        N Engl J Med 360:2544-55 (2009)
 DOI:10.1056/NEJMoa0810440
 PMID:26364546 (description and drug)
 著者        Carey EJ, Ali AH, Lindor KD
 タイトル      Primary biliary cirrhosis.
 雑誌        Lancet 386:1565-75 (2015)
 DOI:10.1016/S0140-6736(15)00154-3
 PMID:25057950 (environmental factor)
 著者        Juran BD, Lazaridis KN
 タイトル      Environmental factors in primary biliary cirrhosis.
 雑誌        Semin Liver Dis 34:265-72 (2014)
 DOI:10.1055/s-0034-1383726
 PMID:21297251 (pathogen and environmental factor)
 著者        Dronamraju D, Odin J, Bach N
 タイトル      Primary biliary cirrhosis: environmental risk factors.
 雑誌        Dis Markers 29:323-8 (2010)
 DOI:10.3233/DMA-2010-0770","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01467"">H01467</a>",原発性胆汁性肝硬変,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease characterised by destruction of small intrahepatic bile ducts, eventually leading to fibrosis and potential cirrhosis. Patients are usually middle-aged women and presents in the fifth or sixth decade of life. The most common symptoms are pruritus. It is not clear what causes PBC. It may be relate to problems in the autoimmune mechanism. The increased risk of genetic predisposition and environmental factors (infectious or toxic agents) trigger the disease. Ursodeoxycholic acid is currently the only medicine approved for the treatment of the disease.",,,,"Chemical toxins
 Xenobiotics
 Smoking",,"ウルソデオキシコール酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00734"">D00734</a>]",,"ICD-11: DB96.1
 ICD-10: K74.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008105"">D008105</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26250073"">26250073</a>
 著者        Webb GJ, Siminovitch KA, Hirschfield GM
 タイトル      The immunogenetics of primary biliary cirrhosis: A comprehensive review.
 雑誌        J Autoimmun 64:42-52 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2015.07.004"">10.1016/j.jaut.2015.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19458352"">19458352</a>
 著者        Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA
 タイトル      Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
 雑誌        N Engl J Med 360:2544-55 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0810440"">10.1056/NEJMoa0810440</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26364546"">26364546</a> (description <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Carey EJ, Ali AH, Lindor KD
 タイトル      Primary biliary cirrhosis.
 雑誌        Lancet 386:1565-75 (2015)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(15)00154-3"">10.1016/S0140-6736(15)00154-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25057950"">25057950</a> (environmental <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Juran BD, Lazaridis KN
 タイトル      Environmental factors in primary biliary cirrhosis.
 雑誌        Semin Liver Dis 34:265-72 (2014)
 DOI:<a href=""https://doi.org/10.1055/s-0034-1383726"">10.1055/s-0034-1383726</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21297251"">21297251</a> (pathogen <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/environmental"">environmental</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/factor)"">factor)</a>
 著者        Dronamraju D, Odin J, Bach N
 タイトル      Primary biliary cirrhosis: environmental risk factors.
 雑誌        Dis Markers 29:323-8 (2010)
 DOI:<a href=""https://doi.org/10.3233/DMA-2010-0770"">10.3233/DMA-2010-0770</a>"
H01468,"好酸球性多発血管炎性肉芽腫症;
 チャーグストラウス症候群",,,"Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic vasculitic disorder of unknown etiology that affects small-to-medium-size blood vessels. This disease has been called Churg-Strauss syndrome (CSS) for many years, and renamed eosinophilic granulomatosis with polyangiitis (EGPA) in 2012. EGPA is characterized by asthma, hypereosinophilia, and extravascular eosinophilic granulomas. Clinically, three phases may be distinguished. The prodromal phase may persist for many years, consisting of asthma possibly associated with allergic rhinitis and often complicated by recurrent rhinosinusitis and nasal polyps. The second phase is characterized by peripheral blood eosinophilia or eosinophilic tissue infiltrates. The third phase is dominated by manifestations resulting from systemic vasculitis. Vasculitis commonly affects the skin, nerves, gastrointestinal tract, and heart. It can be serious and life-threatening. EGPA pathogenesis is not well known. The disease is probably the result of a complex interaction in which genetically and environmental factors lead to an inflammatory response whose principal players are eosinophils, T, and B lymphocytes. HLA-DRB1 and DRB4 alleles and IL10.2 haplotype of the IL-10 promoter gene are the most studied genetic determinants. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab or mepolizumab seems to be a promising therapeutic alternative.",心血管疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 HLA-DRB4 (polymorphism) [HSA:3126] [KO:K06752]
 IL10 (polymorphism) [HSA:3586] [KO:K05443]",,,,"メポリズマブ [DR:D04923]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]
 乾燥スルホ化人免疫グロブリン [DR:D08786]",,"ICD-11: 4A44.A2
 ICD-10: M30.1
 MeSH: D015267","PMID:25404930 (gene, marker)
 著者        Gioffredi A, Maritati F, Oliva E, Buzio C
 タイトル      Eosinophilic granulomatosis with polyangiitis: an overview.
 雑誌        Front Immunol 5:549 (2014)
 DOI:10.3389/fimmu.2014.00549
 PMID:25500434
 著者        Greco A, Rizzo MI, De Virgilio A, Gallo A, Fusconi M, Ruoppolo G, Altissimi G, De Vincentiis M
 タイトル      Churg-Strauss syndrome.
 雑誌        Autoimmun Rev 14:341-8 (2015)
 DOI:10.1016/j.autrev.2014.12.004
 PMID:24072416
 著者        Jennette JC
 タイトル      Overview of the 2012 revised International Chapel Hill Consensus Conference nomenclature of vasculitides.
 雑誌        Clin Exp Nephrol 17:603-6 (2013)
 DOI:10.1007/s10157-013-0869-6
 PMID:17989571
 著者        Bacciu A, Buzio C, Giordano D, Pasanisi E, Vincenti V, Mercante G, Grasselli C, Bacciu S
 タイトル      Nasal polyposis in Churg-Strauss syndrome.
 雑誌        Laryngoscope 118:325-9 (2008)
 DOI:10.1097/MLG.0b013e318159889d
 PMID:18512809
 著者        Wieczorek S, Hellmich B, Arning L, Moosig F, Lamprecht P, Gross WL, Epplen JT
 タイトル      Functionally relevant variations of the interleukin-10 gene associated with antineutrophil cytoplasmic antibody-negative Churg-Strauss syndrome, but not with Wegener's granulomatosis.
 雑誌        Arthritis Rheum 58:1839-48 (2008)
 DOI:10.1002/art.23496
 PMID:25709744 (drug)
 著者        Mukherjee M, Sehmi R, Nair P
 タイトル      Anti-IL5 therapy for asthma and beyond.
 雑誌        World Allergy Organ J 7:32 (2014)
 DOI:10.1186/1939-4551-7-32
 PMID:25467294 (drug)
 著者        Mohammad AJ, Hot A, Arndt F, Moosig F, Guerry MJ, Amudala N, Smith R, Sivasothy P, Guillevin L, Merkel PA, Jayne DR
 タイトル      Rituximab for the treatment of eosinophilic granulomatosis with polyangiitis (Churg-Strauss).
 雑誌        Ann Rheum Dis 75:396-401 (2016)
 DOI:10.1136/annrheumdis-2014-206095","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01468"">H01468</a>","好酸球性多発血管炎性肉芽腫症;
 チャーグストラウス症候群","Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic vasculitic disorder of unknown etiology that affects small-to-medium-size blood vessels. This disease has been called Churg-Strauss syndrome (CSS) for many years, and renamed eosinophilic granulomatosis with polyangiitis (EGPA) in 2012. EGPA is characterized by asthma, hypereosinophilia, and extravascular eosinophilic granulomas. Clinically, three phases may be distinguished. The prodromal phase may persist for many years, consisting of asthma possibly associated with allergic rhinitis and often complicated by recurrent rhinosinusitis and nasal polyps. The second phase is characterized by peripheral blood eosinophilia or eosinophilic tissue infiltrates. The third phase is dominated by manifestations resulting from systemic vasculitis. Vasculitis commonly affects the skin, nerves, gastrointestinal tract, and heart. It can be serious and life-threatening. EGPA pathogenesis is not well known. The disease is probably the result of a complex interaction in which genetically and environmental factors lead to an inflammatory response whose principal players are eosinophils, T, and B lymphocytes. HLA-DRB1 and DRB4 alleles and IL10.2 haplotype of the IL-10 promoter gene are the most studied genetic determinants. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab or mepolizumab seems to be a promising therapeutic alternative.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DRB4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3126"">3126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 IL10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]",,,,"メポリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04923"">D04923</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]",,"ICD-11: 4A44.A2
 ICD-10: M30.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015267"">D015267</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25404930"">25404930</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Gioffredi A, Maritati F, Oliva E, Buzio C
 タイトル      Eosinophilic granulomatosis with polyangiitis: an overview.
 雑誌        Front Immunol 5:549 (2014)
 DOI:<a href=""https://doi.org/10.3389/fimmu.2014.00549"">10.3389/fimmu.2014.00549</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25500434"">25500434</a>
 著者        Greco A, Rizzo MI, De Virgilio A, Gallo A, Fusconi M, Ruoppolo G, Altissimi G, De Vincentiis M
 タイトル      Churg-Strauss syndrome.
 雑誌        Autoimmun Rev 14:341-8 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.12.004"">10.1016/j.autrev.2014.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24072416"">24072416</a>
 著者        Jennette JC
 タイトル      Overview of the 2012 revised International Chapel Hill Consensus Conference nomenclature of vasculitides.
 雑誌        Clin Exp Nephrol 17:603-6 (2013)
 DOI:<a href=""https://doi.org/10.1007/s10157-013-0869-6"">10.1007/s10157-013-0869-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17989571"">17989571</a>
 著者        Bacciu A, Buzio C, Giordano D, Pasanisi E, Vincenti V, Mercante G, Grasselli C, Bacciu S
 タイトル      Nasal polyposis in Churg-Strauss syndrome.
 雑誌        Laryngoscope 118:325-9 (2008)
 DOI:<a href=""https://doi.org/10.1097/MLG.0b013e318159889d"">10.1097/MLG.0b013e318159889d</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18512809"">18512809</a>
 著者        Wieczorek S, Hellmich B, Arning L, Moosig F, Lamprecht P, Gross WL, Epplen JT
 タイトル      Functionally relevant variations of the interleukin-10 gene associated with antineutrophil cytoplasmic antibody-negative Churg-Strauss syndrome, but not with Wegener's granulomatosis.
 雑誌        Arthritis Rheum 58:1839-48 (2008)
 DOI:<a href=""https://doi.org/10.1002/art.23496"">10.1002/art.23496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25709744"">25709744</a> (drug)
 著者        Mukherjee M, Sehmi R, Nair P
 タイトル      Anti-IL5 therapy for asthma and beyond.
 雑誌        World Allergy Organ J 7:32 (2014)
 DOI:<a href=""https://doi.org/10.1186/1939-4551-7-32"">10.1186/1939-4551-7-32</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25467294"">25467294</a> (drug)
 著者        Mohammad AJ, Hot A, Arndt F, Moosig F, Guerry MJ, Amudala N, Smith R, Sivasothy P, Guillevin L, Merkel PA, Jayne DR
 タイトル      Rituximab for the treatment of eosinophilic granulomatosis with polyangiitis (Churg-Strauss).
 雑誌        Ann Rheum Dis 75:396-401 (2016)
 DOI:<a href=""https://doi.org/10.1136/annrheumdis-2014-206095"">10.1136/annrheumdis-2014-206095</a>"
H01469,"短腸症候群
 下位グループ    先天性短腸症候群 [DS:H01477]",,,"Short bowel syndrome (SBS), also called short gut syndrome or simply short gut, is a malabsorption disorder. It typically occurs in people who lost at least half of their small intestine due to surgical resection for various disorders, including Crohn's disease, volvulus, cancer, or significant damage (injury, trauma). In infants, necrotizing enterocolitis is the most common cause for surgical resection of the small intestines. Patients usually experience symptoms that include abdominal pain, diarrhea. The main treatment is nutritional support such as oral rehydration, parenteral nutrition, enteral nutrition, vitamin and mineral supplements, and special diet. Currently, a recombinant analog of human glucagon-like peptide-2 (GLP-2) teduglutide associated with the treatment for SBS has been reported to improve intestinal absorption.",消化器疾患,,,,,,テデュグルチド [DR:D06053],,"ICD-11: KB89.1
 ICD-10: K91.8
 MeSH: D012778","PMID:24486858
 著者        Jeppesen PB
 タイトル      Spectrum of short bowel syndrome in adults: intestinal insufficiency to intestinal failure.
 雑誌        JPEN J Parenter Enteral Nutr 38:8S-13S (2014)
 DOI:10.1177/0148607114520994
 PMID:23830324
 著者        Wall EA
 タイトル      An overview of short bowel syndrome management: adherence, adaptation, and practical recommendations.
 雑誌        J Acad Nutr Diet 113:1200-8 (2013)
 DOI:10.1016/j.jand.2013.05.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01469"">H01469</a>","短腸症候群
 下位グループ    先天性短腸症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01477"">H01477</a>]","Short bowel syndrome (SBS), also called short gut syndrome or simply short gut, is a malabsorption disorder. It typically occurs in people who lost at least half of their small intestine due to surgical resection for various disorders, including Crohn's disease, volvulus, cancer, or significant damage (injury, trauma). In infants, necrotizing enterocolitis is the most common cause for surgical resection of the small intestines. Patients usually experience symptoms that include abdominal pain, diarrhea. The main treatment is nutritional support such as oral rehydration, parenteral nutrition, enteral nutrition, vitamin and mineral supplements, and special diet. Currently, a recombinant analog of human glucagon-like peptide-2 (GLP-2) teduglutide associated with the treatment for SBS has been reported to improve intestinal absorption.",,,,,,"テデュグルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06053"">D06053</a>]",,"ICD-11: KB89.1
 ICD-10: K91.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012778"">D012778</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24486858"">24486858</a>
 著者        Jeppesen PB
 タイトル      Spectrum of short bowel syndrome in adults: intestinal insufficiency to intestinal failure.
 雑誌        JPEN J Parenter Enteral Nutr 38:8S-13S (2014)
 DOI:<a href=""https://doi.org/10.1177/0148607114520994"">10.1177/0148607114520994</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23830324"">23830324</a>
 著者        Wall EA
 タイトル      An overview of short bowel syndrome management: adherence, adaptation, and practical recommendations.
 雑誌        J Acad Nutr Diet 113:1200-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jand.2013.05.001"">10.1016/j.jand.2013.05.001</a>"
H01470,骨巨細胞腫,,,"Giant-cell tumor of bone (GCTB) is a rare osteolytic tumor of the bone. Although classified as a benign tumor, GCTB is characterized by local aggressiveness and risk of local recurrence. Its name is derived from the numerous multinucleated giant cells found within the tumor, which are principally responsible for the extensive bone resorption that is characteristic of GCTB. However, the neoplastic components of GCTB are the spindle-like stromal cells, which produce RANKL that recruits monocytic osteoclast precursors from blood to the tumor, and stimulates differentiation into multinucleated giant cells. Recently, denosumab (RANKL inhibitor) has become a new treatment option for locally advanced GCTB.",骨格疾患,,"RANKL (overexpression) [HSA:8600] [KO:K05473]
 H3F3A (mutation) [HSA:3020] [KO:K11253]
 TP53 (mutation) [HSA:7157] [KO:K04451]
 HRAS (mutation) [HSA:3265] [KO:K02833]",,,,デノスマブ [DR:D03684],,"ICD-11: 2B51
 ICD-10: D48.0
 MeSH: D018212","PMID:24718514 (description, gene, drug)
 著者        van der Heijden L, Dijkstra PD, van de Sande MA, Kroep JR, Nout RA, van Rijswijk CS, Bovee JV, Hogendoorn PC, Gelderblom H
 タイトル      The clinical approach toward giant cell tumor of bone.
 雑誌        Oncologist 19:550-61 (2014)
 DOI:10.1634/theoncologist.2013-0432
 PMID:24363925 (description, gene, drug)
 著者        Dufresne A, Derbel O, Cassier P, Vaz G, Decouvelaere AV, Blay JY
 タイトル      Giant-cell tumor of bone, anti-RANKL therapy.
 雑誌        Bonekey Rep 1:149 (2012)
 DOI:10.1038/bonekey.2012.149
 PMID:23063845 (description, gene, drug)
 著者        Cowan RW, Singh G
 タイトル      Giant cell tumor of bone: a basic science perspective.
 雑誌        Bone 52:238-46 (2013)
 DOI:10.1016/j.bone.2012.10.002
 PMID:24788576 (description, gene, drug)
 著者        Skubitz KM
 タイトル      Giant cell tumor of bone: current treatment options.
 雑誌        Curr Treat Options Oncol 15:507-18 (2014)
 DOI:10.1007/s11864-014-0289-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01470"">H01470</a>",骨巨細胞腫,"Giant-cell tumor of bone (GCTB) is a rare osteolytic tumor of the bone. Although classified as a benign tumor, GCTB is characterized by local aggressiveness and risk of local recurrence. Its name is derived from the numerous multinucleated giant cells found within the tumor, which are principally responsible for the extensive bone resorption that is characteristic of GCTB. However, the neoplastic components of GCTB are the spindle-like stromal cells, which produce RANKL that recruits monocytic osteoclast precursors from blood to the tumor, and stimulates differentiation into multinucleated giant cells. Recently, denosumab (RANKL inhibitor) has become a new treatment option for locally advanced GCTB.",,"RANKL (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8600"">8600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05473"">K05473</a>]
 H3F3A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3020"">3020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11253"">K11253</a>]
 TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 HRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]",,,,"デノスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03684"">D03684</a>]",,"ICD-11: 2B51
 ICD-10: D48.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018212"">D018212</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24718514"">24718514</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        van der Heijden L, Dijkstra PD, van de Sande MA, Kroep JR, Nout RA, van Rijswijk CS, Bovee JV, Hogendoorn PC, Gelderblom H
 タイトル      The clinical approach toward giant cell tumor of bone.
 雑誌        Oncologist 19:550-61 (2014)
 DOI:<a href=""https://doi.org/10.1634/theoncologist.2013-0432"">10.1634/theoncologist.2013-0432</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24363925"">24363925</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Dufresne A, Derbel O, Cassier P, Vaz G, Decouvelaere AV, Blay JY
 タイトル      Giant-cell tumor of bone, anti-RANKL therapy.
 雑誌        Bonekey Rep 1:149 (2012)
 DOI:<a href=""https://doi.org/10.1038/bonekey.2012.149"">10.1038/bonekey.2012.149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23063845"">23063845</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Cowan RW, Singh G
 タイトル      Giant cell tumor of bone: a basic science perspective.
 雑誌        Bone 52:238-46 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2012.10.002"">10.1016/j.bone.2012.10.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24788576"">24788576</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Skubitz KM
 タイトル      Giant cell tumor of bone: current treatment options.
 雑誌        Curr Treat Options Oncol 15:507-18 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11864-014-0289-1"">10.1007/s11864-014-0289-1</a>"
H01471,リンパ管腫,,,"Lymphangiomas are congenital malformations of the lymphatic system, which is located mostly on the head and neck region. The lesions consist of dilated endothelium-lined spaces that vary in size from microscopic channels (cavernous lymphangioma) to large cysts (cystic hygroma). Although histologically benign, these lesions may expand into surrounding tissues and/or infiltrate vital structures similar to malignancies, sometimes causing life-threatening complications. The etiology of lymphangioma is not certain. The presence of lymphatic endothelial cell (LEC)-specific markers on the endothelial lining of lymphangiomas (e.g. the transcription factor Prox1) indicates that the neoplasm may result from transformed LECs and/or stromal cells. This transformation is modulated by VEGF-C, a specific lymphatic endothelial growth factor, and its receptor VEGFR-3.",脈管疾患,,VEGFR-3 (overexpression) [HSA:2324] [KO:K05097],,,,"シロリムス [DR:D00753]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2E81.1
 ICD-10: D18.1
 MeSH: D008202","PMID:8801295
 著者        Ogita S, Tsuto T, Nakamura K, Deguchi E, Tokiwa K, Iwai N
 タイトル      OK-432 therapy for lymphangioma in children: why and how does it work?
 雑誌        J Pediatr Surg 31:477-80 (1996)
 DOI:10.1016/S0022-3468(96)90478-9
 PMID:8078021
 著者        Ogita S, Tsuto T, Nakamura K, Deguchi E, Iwai N
 タイトル      OK-432 therapy in 64 patients with lymphangioma.
 雑誌        J Pediatr Surg 29:784-5 (1994)
 DOI:10.1016/0022-3468(94)90370-0
 PMID:20382171
 著者        Ji RC, Eshita Y, Xing L, Miura M
 タイトル      Multiple expressions of lymphatic markers and morphological evolution of newly formed lymphatics in lymphangioma and lymph node lymphangiogenesis.
 雑誌        Microvasc Res 80:195-201 (2010)
 DOI:10.1016/j.mvr.2010.04.002
 PMID:17584927
 著者        Norgall S, Papoutsi M, Rossler J, Schweigerer L, Wilting J, Weich HA
 タイトル      Elevated expression of VEGFR-3 in lymphatic endothelial cells from lymphangiomas.
 雑誌        BMC Cancer 7:105 (2007)
 DOI:10.1186/1471-2407-7-105
 PMID:12107533 (drug)
 著者        Laranne J, Keski-Nisula L, Rautio R, Rautiainen M, Airaksinen M
 タイトル      OK-432 (Picibanil) therapy for lymphangiomas in children.
 雑誌        Eur Arch Otorhinolaryngol 259:274-8 (2002)
 DOI:10.1007/s00405-001-0438-6
 PMID:20170968 (drug)
 著者        Oosthuizen JC, Burns P, Russell JD
 タイトル      Lymphatic malformations: a proposed management algorithm.
 雑誌        Int J Pediatr Otorhinolaryngol 74:398-403 (2010)
 DOI:10.1016/j.ijporl.2010.01.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01471"">H01471</a>",リンパ管腫,"Lymphangiomas are congenital malformations of the lymphatic system, which is located mostly on the head and neck region. The lesions consist of dilated endothelium-lined spaces that vary in size from microscopic channels (cavernous lymphangioma) to large cysts (cystic hygroma). Although histologically benign, these lesions may expand into surrounding tissues and/or infiltrate vital structures similar to malignancies, sometimes causing life-threatening complications. The etiology of lymphangioma is not certain. The presence of lymphatic endothelial cell (LEC)-specific markers on the endothelial lining of lymphangiomas (e.g. the transcription factor Prox1) indicates that the neoplasm may result from transformed LECs and/or stromal cells. This transformation is modulated by VEGF-C, a specific lymphatic endothelial growth factor, and its receptor VEGFR-3.",,"VEGFR-3 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2324"">2324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05097"">K05097</a>]",,,,"シロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00753"">D00753</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2E81.1
 ICD-10: D18.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008202"">D008202</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8801295"">8801295</a>
 著者        Ogita S, Tsuto T, Nakamura K, Deguchi E, Tokiwa K, Iwai N
 タイトル      OK-432 therapy for lymphangioma in children: why and how does it work?
 雑誌        J Pediatr Surg 31:477-80 (1996)
 DOI:<a href=""https://doi.org/10.1016/S0022-3468(96)90478-9"">10.1016/S0022-3468(96)90478-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8078021"">8078021</a>
 著者        Ogita S, Tsuto T, Nakamura K, Deguchi E, Iwai N
 タイトル      OK-432 therapy in 64 patients with lymphangioma.
 雑誌        J Pediatr Surg 29:784-5 (1994)
 DOI:<a href=""https://doi.org/10.1016/0022-3468(94)90370-0"">10.1016/0022-3468(94)90370-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20382171"">20382171</a>
 著者        Ji RC, Eshita Y, Xing L, Miura M
 タイトル      Multiple expressions of lymphatic markers and morphological evolution of newly formed lymphatics in lymphangioma and lymph node lymphangiogenesis.
 雑誌        Microvasc Res 80:195-201 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.mvr.2010.04.002"">10.1016/j.mvr.2010.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17584927"">17584927</a>
 著者        Norgall S, Papoutsi M, Rossler J, Schweigerer L, Wilting J, Weich HA
 タイトル      Elevated expression of VEGFR-3 in lymphatic endothelial cells from lymphangiomas.
 雑誌        BMC Cancer 7:105 (2007)
 DOI:<a href=""https://doi.org/10.1186/1471-2407-7-105"">10.1186/1471-2407-7-105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12107533"">12107533</a> (drug)
 著者        Laranne J, Keski-Nisula L, Rautio R, Rautiainen M, Airaksinen M
 タイトル      OK-432 (Picibanil) therapy for lymphangiomas in children.
 雑誌        Eur Arch Otorhinolaryngol 259:274-8 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00405-001-0438-6"">10.1007/s00405-001-0438-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20170968"">20170968</a> (drug)
 著者        Oosthuizen JC, Burns P, Russell JD
 タイトル      Lymphatic malformations: a proposed management algorithm.
 雑誌        Int J Pediatr Otorhinolaryngol 74:398-403 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ijporl.2010.01.013"">10.1016/j.ijporl.2010.01.013</a>"
H01472,"多剤耐性結核
 上位グループ    結核 [DS:H00342]",,,"Multi-drug-resistant tuberculosis is generally defined as infection with M. tuberculosis strains that are resistant to isoniazid and rifampin, the first-line antibiotics for treating tuberculosis. Drug-resistant tuberculosis has reached new levels of concern because of the recent identification of strains that are resistant not only to rifampin and isoniazid but also to any fluoroquinolone and at least 1 of the second-line injectable agents (amikacin, kanamycin, and capreomycin); this type of drug-resistant tuberculosis has been designated extensively drug-resistant tuberculosis.",感染症,,,Mycobacterium tuberculosis [GN:mtl],,,"ベダキリンフマル酸塩 [DR:D09873]
 デラマニド [DR:D09785]",,"ICD-11: MG52.00
 ICD-10: U84.3 U84.7
 MeSH: D018088","PMID:25721508
 著者        Millard J, Ugarte-Gil C, Moore DA
 タイトル      Multidrug resistant tuberculosis.
 雑誌        BMJ 350:h882 (2015)
 DOI:10.1136/bmj.h882
 PMID:19191632
 著者        Chan ED, Strand MJ, Iseman MD
 タイトル      Multidrug-resistant tuberculosis (TB) resistant to fluoroquinolones and streptomycin but susceptible to second-line injection therapy has a better prognosis than extensively drug-resistant TB.
 雑誌        Clin Infect Dis 48:e50-2 (2009)
 DOI:10.1086/597010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01472"">H01472</a>","多剤耐性結核
 上位グループ    結核 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00342"">H00342</a>]","Multi-drug-resistant tuberculosis is generally defined as infection with M. tuberculosis strains that are resistant to isoniazid and rifampin, the first-line antibiotics for treating tuberculosis. Drug-resistant tuberculosis has reached new levels of concern because of the recent identification of strains that are resistant not only to rifampin and isoniazid but also to any fluoroquinolone and at least 1 of the second-line injectable agents (amikacin, kanamycin, and capreomycin); this type of drug-resistant tuberculosis has been designated extensively drug-resistant tuberculosis.",,,"Mycobacterium tuberculosis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mtl"">mtl</a>]",,,"ベダキリンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09873"">D09873</a>]
 デラマニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09785"">D09785</a>]",,"ICD-11: MG52.00
 ICD-10: U84.3 U84.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018088"">D018088</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25721508"">25721508</a>
 著者        Millard J, Ugarte-Gil C, Moore DA
 タイトル      Multidrug resistant tuberculosis.
 雑誌        BMJ 350:h882 (2015)
 DOI:<a href=""https://doi.org/10.1136/bmj.h882"">10.1136/bmj.h882</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19191632"">19191632</a>
 著者        Chan ED, Strand MJ, Iseman MD
 タイトル      Multidrug-resistant tuberculosis (TB) resistant to fluoroquinolones and streptomycin but susceptible to second-line injection therapy has a better prognosis than extensively drug-resistant TB.
 雑誌        Clin Infect Dis 48:e50-2 (2009)
 DOI:<a href=""https://doi.org/10.1086/597010"">10.1086/597010</a>"
H01473,らい性結節性紅斑,,,"Reactional states of leprosy are expressions of immunological disturbance and are generally divided into two variants: type 1 (Jopling's type I or reversal reaction) and type 2 (Jopling's type II reaction). Erythema Nodosum Leprosum (ENL), the main symptom of a type-2 reaction in leprosy, is caused by a humoral immune response to Mycobacterium leprae. Patients with ENL become acutely sick with fever, malaise, and crops of painful erythematous nodules. Inflammation often affects other systems causing iritis, neuritis, myositis, lymphadenitis, arthritis, dactylitis, and orchitis.",皮膚と軟部組織の疾患,,,Mycobacterium leprae [GN:mle mlb],,,"サリドマイド [DR:D00754]
 クロファジミン [DR:D00278]",See also H00344 Leprosy.,"ICD-11: 1B20.21
 ICD-10: A30.8 L52
 MeSH: D004893","PMID:16687695
 著者        Pocaterra L, Jain S, Reddy R, Muzaffarullah S, Torres O, Suneetha S, Lockwood DN
 タイトル      Clinical course of erythema nodosum leprosum: an 11-year cohort study in Hyderabad, India.
 雑誌        Am J Trop Med Hyg 74:868-79 (2006)
 DOI:10.4269/ajtmh.2006.74.868
 PMID:24098819
 著者        Voorend CG, Post EB
 タイトル      A systematic review on the epidemiological data of erythema nodosum leprosum, a type 2 leprosy reaction.
 雑誌        PLoS Negl Trop Dis 7:e2440 (2013)
 DOI:10.1371/journal.pntd.0002440
 PMID:23000940
 著者        Travassos AR, Antunes J, Pacheco D, Almeida LS, Filipe P, Marques MS
 タイトル      Erythema nodosum leprosum associated with minocycline.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 21:39-41 (2012)
 DOI:10.2478/v10162-012-0011-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01473"">H01473</a>",らい性結節性紅斑,"Reactional states of leprosy are expressions of immunological disturbance and are generally divided into two variants: type 1 (Jopling's type I or reversal reaction) and type 2 (Jopling's type II reaction). Erythema Nodosum Leprosum (ENL), the main symptom of a type-2 reaction in leprosy, is caused by a humoral immune response to Mycobacterium leprae. Patients with ENL become acutely sick with fever, malaise, and crops of painful erythematous nodules. Inflammation often affects other systems causing iritis, neuritis, myositis, lymphadenitis, arthritis, dactylitis, and orchitis.",,,"Mycobacterium leprae [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mle"">mle</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mlb"">mlb</a>]",,,"サリドマイド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00754"">D00754</a>]
 クロファジミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00278"">D00278</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00344"">H00344</a> Leprosy.","ICD-11: 1B20.21
 ICD-10: A30.8 L52
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004893"">D004893</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16687695"">16687695</a>
 著者        Pocaterra L, Jain S, Reddy R, Muzaffarullah S, Torres O, Suneetha S, Lockwood DN
 タイトル      Clinical course of erythema nodosum leprosum: an 11-year cohort study in Hyderabad, India.
 雑誌        Am J Trop Med Hyg 74:868-79 (2006)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2006.74.868"">10.4269/ajtmh.2006.74.868</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24098819"">24098819</a>
 著者        Voorend CG, Post EB
 タイトル      A systematic review on the epidemiological data of erythema nodosum leprosum, a type 2 leprosy reaction.
 雑誌        PLoS Negl Trop Dis 7:e2440 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0002440"">10.1371/journal.pntd.0002440</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000940"">23000940</a>
 著者        Travassos AR, Antunes J, Pacheco D, Almeida LS, Filipe P, Marques MS
 タイトル      Erythema nodosum leprosum associated with minocycline.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 21:39-41 (2012)
 DOI:<a href=""https://doi.org/10.2478/v10162-012-0011-6"">10.2478/v10162-012-0011-6</a>"
H01474,"後天性全身性脂肪萎縮症;
 Lawrence 症候群
 上位グループ    脂肪萎縮症 [DS:H01475]",,,"Acquired generalized lipodystrophy (AGL), also called the Lawrence syndrome, is one subtype of acquired lipodystrophy caused by autoimmune disease, panniculitis or idiopathic. The disorder appears during the childhood and adolescence. Clinically, loss of subcutaneous fat occurs highly variable, exclusively at the face and extremities including legs, palms and some soles. In rare cases, intraabdomianl fat and bone marrow fat may also be spared. Similarly to congential generalized lipodystrophy, people with the disorder usually appear severe hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Metreleptin, as a recombinant analog of human leptin, has been approved for the treatment for the disorder as well as diet.",先天性代謝異常症,,,,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: D008060","PMID:21865368
 著者        Garg A
 タイトル      Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
 雑誌        J Clin Endocrinol Metab 96:3313-25 (2011)
 DOI:10.1210/jc.2011-1159
 PMID:26063386 (drug)
 著者        Tchang BG, Shukla AP, Aronne LJ
 タイトル      Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
 雑誌        Expert Opin Biol Ther 15:1061-75 (2015)
 DOI:10.1517/14712598.2015.1052789","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01474"">H01474</a>","後天性全身性脂肪萎縮症;
 Lawrence 症候群
 上位グループ    脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01475"">H01475</a>]","Acquired generalized lipodystrophy (AGL), also called the Lawrence syndrome, is one subtype of acquired lipodystrophy caused by autoimmune disease, panniculitis or idiopathic. The disorder appears during the childhood and adolescence. Clinically, loss of subcutaneous fat occurs highly variable, exclusively at the face and extremities including legs, palms and some soles. In rare cases, intraabdomianl fat and bone marrow fat may also be spared. Similarly to congential generalized lipodystrophy, people with the disorder usually appear severe hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Metreleptin, as a recombinant analog of human leptin, has been approved for the treatment for the disorder as well as diet.",,,,,,,,"ICD-11: 5A44
 ICD-10: E88.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008060"">D008060</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21865368"">21865368</a>
 著者        Garg A
 タイトル      Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
 雑誌        J Clin Endocrinol Metab 96:3313-25 (2011)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-1159"">10.1210/jc.2011-1159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26063386"">26063386</a> (drug)
 著者        Tchang BG, Shukla AP, Aronne LJ
 タイトル      Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
 雑誌        Expert Opin Biol Ther 15:1061-75 (2015)
 DOI:<a href=""https://doi.org/10.1517/14712598.2015.1052789"">10.1517/14712598.2015.1052789</a>"
H01475,"脂肪萎縮症;
 リポジストロフィー;
 脂肪異栄養症
 下位グループ    先天性全身性リポジストロフィー [DS:H00419]
 家族性部分性脂肪萎縮症 [DS:H00420]
 下顎骨異形成 [DS:H00665]
 後天性全身性脂肪萎縮症 [DS:H01474]
 後天性部分性脂肪萎縮症
 HIV 関連脂肪萎縮症",,,"Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently appear severe metabolic abnormality including insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries, and acanthosis nigricans. Genetic predisposition to inherited lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms.",先天性代謝異常症,,,,,,メトレレプチン [DR:D05014],"Lipodystrophy can be classified to the following subtypes.
 Genetic forms: Congential generalized lipodystrophy (CGL), H00420 Familial partial lipodystrophy (FPL), H00665 Mandibuloacral dysplasia-associated lipodystrophy (MDAL)
 Acquired forms: H01474 Acquired generalized lipodystrophy (AGL), Acquired partial, HIV-associated lipodystrophy","ICD-11: EF01
 ICD-10: E88.1
 MeSH: D008060","PMID:21865368
 著者        Garg A
 タイトル      Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
 雑誌        J Clin Endocrinol Metab 96:3313-25 (2011)
 DOI:10.1210/jc.2011-1159
 PMID:25690482
 著者        Bindlish S, Presswala LS, Schwartz F
 タイトル      Lipodystrophy: Syndrome of severe insulin resistance.
 雑誌        Postgrad Med 127:511-6 (2015)
 DOI:10.1080/00325481.2015.1015927
 PMID:26063386 (drug)
 著者        Tchang BG, Shukla AP, Aronne LJ
 タイトル      Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
 雑誌        Expert Opin Biol Ther 15:1061-75 (2015)
 DOI:10.1517/14712598.2015.1052789","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01475"">H01475</a>","脂肪萎縮症;
 リポジストロフィー;
 脂肪異栄養症
 下位グループ    先天性全身性リポジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00419"">H00419</a>]
 家族性部分性脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00420"">H00420</a>]
 下顎骨異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00665"">H00665</a>]
 後天性全身性脂肪萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01474"">H01474</a>]
 後天性部分性脂肪萎縮症
 HIV 関連脂肪萎縮症","Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently appear severe metabolic abnormality including insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries, and acanthosis nigricans. Genetic predisposition to inherited lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms.",,,,,,"メトレレプチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05014"">D05014</a>]","Lipodystrophy can be classified to the following subtypes.
 Genetic forms: Congential generalized lipodystrophy (CGL), <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00420"">H00420</a> Familial partial lipodystrophy (FPL), <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00665"">H00665</a> Mandibuloacral dysplasia-associated lipodystrophy (MDAL)
 Acquired forms: <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01474"">H01474</a> Acquired generalized lipodystrophy (AGL), Acquired partial, HIV-associated lipodystrophy","ICD-11: EF01
 ICD-10: E88.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008060"">D008060</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21865368"">21865368</a>
 著者        Garg A
 タイトル      Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
 雑誌        J Clin Endocrinol Metab 96:3313-25 (2011)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-1159"">10.1210/jc.2011-1159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25690482"">25690482</a>
 著者        Bindlish S, Presswala LS, Schwartz F
 タイトル      Lipodystrophy: Syndrome of severe insulin resistance.
 雑誌        Postgrad Med 127:511-6 (2015)
 DOI:<a href=""https://doi.org/10.1080/00325481.2015.1015927"">10.1080/00325481.2015.1015927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26063386"">26063386</a> (drug)
 著者        Tchang BG, Shukla AP, Aronne LJ
 タイトル      Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
 雑誌        Expert Opin Biol Ther 15:1061-75 (2015)
 DOI:<a href=""https://doi.org/10.1517/14712598.2015.1052789"">10.1517/14712598.2015.1052789</a>"
H01476,ベーチェット病,,,"Behcet disease is a multisystemic inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs such as the gastrointestinal tract, pulmonary, musculoskeletal, cardiovascular and neurological systems. This disease is more common in countries along the ancient Silk Road, including Asia, Middle East, and Mediterranean. Although the etiology is still unknown, this disease is believed to be triggered by environmental factors such as microbial agents in individuals with a particular genetic background. The positive association of HLA-B51 was identified more than four decades ago, and has been confirmed in multiple populations. Recent genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet disease.",免疫系疾患; 皮膚疾患,,"HLA-B (polymorphism) [HSA:3106] [KO:K06751]
 IL10 (polymorphism) [HSA:3586] [KO:K05443]
 IL23R (polymorphism) [HSA:149233] [KO:K05065]
 IL12RB2 (polymorphism) [HSA:3595] [KO:K05064]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シクロスポリン [DR:D00184]
 インフリキシマブ [DR:D02598]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 アプレミラスト [DR:D08860]
 アダリムマブ [DR:D02597]",,"ICD-11: 4A62
 ICD-10: M35.2
 MeSH: D001528
 OMIM: 109650","PMID:16282155
 著者        Bonfioli AA, Orefice F
 タイトル      Behcet's disease.
 雑誌        Semin Ophthalmol 20:199-206 (2005)
 DOI:10.1080/08820530500231953
 PMID:25062414
 著者        Demirseren DD, Ceylan GG, Akoglu G, Emre S, Erten S, Arman A, Metin A
 タイトル      HLA-B51 subtypes in Turkish patients with Behcet's disease and their correlation with clinical manifestations.
 雑誌        Genet Mol Res 13:4788-96 (2014)
 DOI:10.4238/2014.July.2.8
 PMID:26347074
 著者        Takeuchi M, Kastner DL, Remmers EF
 タイトル      The immunogenetics of Behcet's disease: A comprehensive review.
 雑誌        J Autoimmun 64:137-48 (2015)
 DOI:10.1016/j.jaut.2015.08.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01476"">H01476</a>",ベーチェット病,"Behcet disease is a multisystemic inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs such as the gastrointestinal tract, pulmonary, musculoskeletal, cardiovascular and neurological systems. This disease is more common in countries along the ancient Silk Road, including Asia, Middle East, and Mediterranean. Although the etiology is still unknown, this disease is believed to be triggered by environmental factors such as microbial agents in individuals with a particular genetic background. The positive association of HLA-B51 was identified more than four decades ago, and has been confirmed in multiple populations. Recent genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet disease.",,"HLA-B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 IL10 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 IL23R (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149233"">149233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05065"">K05065</a>]
 IL12RB2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3595"">3595</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05064"">K05064</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 アプレミラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08860"">D08860</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]",,"ICD-11: 4A62
 ICD-10: M35.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001528"">D001528</a>
 OMIM: <a href=""https://www.omim.org/entry/109650"">109650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16282155"">16282155</a>
 著者        Bonfioli AA, Orefice F
 タイトル      Behcet's disease.
 雑誌        Semin Ophthalmol 20:199-206 (2005)
 DOI:<a href=""https://doi.org/10.1080/08820530500231953"">10.1080/08820530500231953</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25062414"">25062414</a>
 著者        Demirseren DD, Ceylan GG, Akoglu G, Emre S, Erten S, Arman A, Metin A
 タイトル      HLA-B51 subtypes in Turkish patients with Behcet's disease and their correlation with clinical manifestations.
 雑誌        Genet Mol Res 13:4788-96 (2014)
 DOI:<a href=""https://doi.org/10.4238/2014.July.2.8"">10.4238/2014.July.2.8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26347074"">26347074</a>
 著者        Takeuchi M, Kastner DL, Remmers EF
 タイトル      The immunogenetics of Behcet's disease: A comprehensive review.
 雑誌        J Autoimmun 64:137-48 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2015.08.013"">10.1016/j.jaut.2015.08.013</a>"
H01477,"先天性短腸症候群
 上位グループ    短腸症候群 [DS:H01469]",,,"Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal length rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.",先天奇形,,CLMP [HSA:79827] [KO:K06789],,,,,Acquired small bowel syndrome is described in H01469.,"ICD-11: KB89.1
 ICD-10: Q43.8
 MeSH: D007418
 OMIM: 615237","PMID:26282049
 著者        van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM
 タイトル      Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.
 雑誌        Biochim Biophys Acta 1852:2352-61 (2015)
 DOI:10.1016/j.bbadis.2015.08.007
 PMID:20123268
 著者        Wales PW, Christison-Lagay ER
 タイトル      Short bowel syndrome: epidemiology and etiology.
 雑誌        Semin Pediatr Surg 19:3-9 (2010)
 DOI:10.1053/j.sempedsurg.2009.11.001
 PMID:22155368
 著者        Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM
 タイトル      CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
 雑誌        Gastroenterology 142:453-462.e3 (2012)
 DOI:10.1053/j.gastro.2011.11.038","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01477"">H01477</a>","先天性短腸症候群
 上位グループ    短腸症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01469"">H01469</a>]","Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal length rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.",,"CLMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79827"">79827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06789"">K06789</a>]",,,,,"Acquired small bowel syndrome is described in <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01469."">H01469.</a>","ICD-11: KB89.1
 ICD-10: Q43.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007418"">D007418</a>
 OMIM: <a href=""https://www.omim.org/entry/615237"">615237</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26282049"">26282049</a>
 著者        van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM
 タイトル      Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.
 雑誌        Biochim Biophys Acta 1852:2352-61 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2015.08.007"">10.1016/j.bbadis.2015.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20123268"">20123268</a>
 著者        Wales PW, Christison-Lagay ER
 タイトル      Short bowel syndrome: epidemiology and etiology.
 雑誌        Semin Pediatr Surg 19:3-9 (2010)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2009.11.001"">10.1053/j.sempedsurg.2009.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22155368"">22155368</a>
 著者        Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM
 タイトル      CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
 雑誌        Gastroenterology 142:453-462.e3 (2012)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2011.11.038"">10.1053/j.gastro.2011.11.038</a>"
H01478,"マチャドジョセフ病
 上位グループ    脊髄小脳失調症 [DS:H00063]
 脊髄小脳変性症 [DS:H01616]",,,"Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative disorder, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Minor, but more specific, features such as external progressive ophthalmoplegia (EPO), dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as bulging eyes, may also be of major importance for the clinical diagnosis of MJD. The mean age at onset is around 40 years. MJD is associated with CAG repeat expansions in the ATXN3 gene. CAG repeat varies in size among affected persons. There is no effective treatment of ataxia. Case series and small controlled trials of several medications including antianxiolytics, antidepressants, and antiepileptics have shown limited efficacy.",神経変性疾患,,ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863],,,,,See also H00063 Spinocerebellar ataxia (SCA),"ICD-11: 8A03.16
 ICD-10: G11.8
 MeSH: D017827
 OMIM: 109150","PMID:21635785
 著者        Bettencourt C, Lima M
 タイトル      Machado-Joseph Disease: from first descriptions to new perspectives.
 雑誌        Orphanet J Rare Dis 6:35 (2011)
 DOI:10.1186/1750-1172-6-35
 PMID:21827905
 著者        Paulson H
 タイトル      Machado-Joseph disease/spinocerebellar ataxia type 3.
 雑誌        Handb Clin Neurol 103:437-49 (2012)
 DOI:10.1016/B978-0-444-51892-7.00027-9
 PMID:11461169 (drug)
 著者        Sakai T
 タイトル      Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'.
 雑誌        Med Hypotheses 57:180-2 (2001)
 DOI:10.1054/mehy.2001.1293
 PMID:15876340 (drug)
 著者        Liu CS, Hsu HM, Cheng WL, Hsieh M
 タイトル      Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy.
 雑誌        Acta Neurol Scand 111:385-90 (2005)
 DOI:10.1111/j.1600-0404.2005.00405.x
 PMID:19050414 (drug)
 著者        Zesiewicz TA, Sullivan KL
 タイトル      Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14).
 雑誌        Clin Neuropharmacol 31:363-5 (2008)
 DOI:10.1097/WNF.0b013e31818736a9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01478"">H01478</a>","マチャドジョセフ病
 上位グループ    脊髄小脳失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00063"">H00063</a>]
 脊髄小脳変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>]","Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative disorder, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Minor, but more specific, features such as external progressive ophthalmoplegia (EPO), dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as bulging eyes, may also be of major importance for the clinical diagnosis of MJD. The mean age at onset is around 40 years. MJD is associated with CAG repeat expansions in the ATXN3 gene. CAG repeat varies in size among affected persons. There is no effective treatment of ataxia. Case series and small controlled trials of several medications including antianxiolytics, antidepressants, and antiepileptics have shown limited efficacy.",,"ATXN3 (CAG repeat expansion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4287"">4287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11863"">K11863</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00063"">H00063</a> Spinocerebellar ataxia (SCA)","ICD-11: 8A03.16
 ICD-10: G11.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017827"">D017827</a>
 OMIM: <a href=""https://www.omim.org/entry/109150"">109150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21635785"">21635785</a>
 著者        Bettencourt C, Lima M
 タイトル      Machado-Joseph Disease: from first descriptions to new perspectives.
 雑誌        Orphanet J Rare Dis 6:35 (2011)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-6-35"">10.1186/1750-1172-6-35</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21827905"">21827905</a>
 著者        Paulson H
 タイトル      Machado-Joseph disease/spinocerebellar ataxia type 3.
 雑誌        Handb Clin Neurol 103:437-49 (2012)
 DOI:<a href=""https://doi.org/10.1016/B978-0-444-51892-7.00027-9"">10.1016/B978-0-444-51892-7.00027-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11461169"">11461169</a> (drug)
 著者        Sakai T
 タイトル      Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'.
 雑誌        Med Hypotheses 57:180-2 (2001)
 DOI:<a href=""https://doi.org/10.1054/mehy.2001.1293"">10.1054/mehy.2001.1293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15876340"">15876340</a> (drug)
 著者        Liu CS, Hsu HM, Cheng WL, Hsieh M
 タイトル      Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy.
 雑誌        Acta Neurol Scand 111:385-90 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2005.00405.x"">10.1111/j.1600-0404.2005.00405.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19050414"">19050414</a> (drug)
 著者        Zesiewicz TA, Sullivan KL
 タイトル      Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14).
 雑誌        Clin Neuropharmacol 31:363-5 (2008)
 DOI:<a href=""https://doi.org/10.1097/WNF.0b013e31818736a9"">10.1097/WNF.0b013e31818736a9</a>"
H01479,キャッスルマン病,,,"Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric Castleman disease can be associated with HIV and human herpesvirus-8 and is characterized by generalized lymphadenopathy and systemic symptoms, such as fever, fatigue, anorexia, anemia, and cachexia. Castleman disease is unique in that dysregulated secretion of interleukin-6 (IL-6) plays a central pathogenetic role, although the exact events precipitating the oversecretion of IL-6 are unknown. Recently, two antibody-based therapeutics targeting components of the IL-6/IL-6R complex have been approved for the treatment of Castleman disease. Tocilizumab is a monoclonal antibody directed against the IL-6 receptor, and siltuximab is a monoclonal antibody specific for IL-6.",免疫系疾患,,IL6 [HSA:3569] [KO:K05405],,,,"トシリズマブ [DR:D02596]
 シルツキシマブ [DR:D09669]",,"ICD-11: 4B2Y
 ICD-10: D36.0
 MeSH: D005871
 OMIM: 148000","PMID:25310208
 著者        Soumerai JD, Sohani AR, Abramson JS
 タイトル      Diagnosis and management of Castleman disease.
 雑誌        Cancer Control 21:266-78 (2014)
 DOI:10.1177/107327481402100403
 PMID:23375540
 著者        Puram SV, Hasserjian RP, Faquin WC, Lin HW, Rocco JW
 タイトル      Castleman disease presenting in the neck: report of a case and review of the literature.
 雑誌        Am J Otolaryngol 34:239-44 (2013)
 DOI:10.1016/j.amjoto.2012.11.007
 PMID:26555695
 著者        Ranganath S, Bhandari A, Avitahl-Curtis N, McMahon J, Wachtel D, Zhang J, Leitheiser C, Bernier SG, Liu G, Tran TT, Celino H, Tobin J, Jung J, Zhao H, Glen KE, Graul C, Griffin A, Schairer WC, Higgins C, Reza TL, Mowe E, Rivers S, Scott S, Monreal A, Shea C, Bourne G, Coons C, Smith A, Tang K, Mandyam RA, Masferrer J, Liu D, Patel DV, Fretzen A, Murphy CA, Milne GT, Smythe ML, Carlson KE
 タイトル      Discovery and Characterization of a Potent Interleukin-6 Binding Peptide with Neutralizing Activity In Vivo.
 雑誌        PLoS One 10:e0141330 (2015)
 DOI:10.1371/journal.pone.0141330
 PMID:26749192 (drug)
 著者        Gonzalez Garcia A, Moreno Cobo MA, Patier de la Pena JL
 タイトル      Current diagnosis and treatment of Castleman's disease.
 雑誌        Rev Clin Esp 216:146-56 (2016)
 DOI:10.1016/j.rce.2015.11.008
 PMID:20625121 (drug)
 著者        van Rhee F, Fayad L, Voorhees P, Furman R, Lonial S, Borghaei H, Sokol L, Crawford J, Cornfeld M, Qi M, Qin X, Herring J, Casper C, Kurzrock R
 タイトル      Siltuximab, a novel anti-interleukin-6 monoclonal antibody, for Castleman's disease.
 雑誌        J Clin Oncol 28:3701-8 (2010)
 DOI:10.1200/JCO.2009.27.2377","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01479"">H01479</a>",キャッスルマン病,"Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric Castleman disease can be associated with HIV and human herpesvirus-8 and is characterized by generalized lymphadenopathy and systemic symptoms, such as fever, fatigue, anorexia, anemia, and cachexia. Castleman disease is unique in that dysregulated secretion of interleukin-6 (IL-6) plays a central pathogenetic role, although the exact events precipitating the oversecretion of IL-6 are unknown. Recently, two antibody-based therapeutics targeting components of the IL-6/IL-6R complex have been approved for the treatment of Castleman disease. Tocilizumab is a monoclonal antibody directed against the IL-6 receptor, and siltuximab is a monoclonal antibody specific for IL-6.",,"IL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3569"">3569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05405"">K05405</a>]",,,,"トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]
 シルツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09669"">D09669</a>]",,"ICD-11: 4B2Y
 ICD-10: D36.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005871"">D005871</a>
 OMIM: <a href=""https://www.omim.org/entry/148000"">148000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25310208"">25310208</a>
 著者        Soumerai JD, Sohani AR, Abramson JS
 タイトル      Diagnosis and management of Castleman disease.
 雑誌        Cancer Control 21:266-78 (2014)
 DOI:<a href=""https://doi.org/10.1177/107327481402100403"">10.1177/107327481402100403</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23375540"">23375540</a>
 著者        Puram SV, Hasserjian RP, Faquin WC, Lin HW, Rocco JW
 タイトル      Castleman disease presenting in the neck: report of a case and review of the literature.
 雑誌        Am J Otolaryngol 34:239-44 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.amjoto.2012.11.007"">10.1016/j.amjoto.2012.11.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26555695"">26555695</a>
 著者        Ranganath S, Bhandari A, Avitahl-Curtis N, McMahon J, Wachtel D, Zhang J, Leitheiser C, Bernier SG, Liu G, Tran TT, Celino H, Tobin J, Jung J, Zhao H, Glen KE, Graul C, Griffin A, Schairer WC, Higgins C, Reza TL, Mowe E, Rivers S, Scott S, Monreal A, Shea C, Bourne G, Coons C, Smith A, Tang K, Mandyam RA, Masferrer J, Liu D, Patel DV, Fretzen A, Murphy CA, Milne GT, Smythe ML, Carlson KE
 タイトル      Discovery and Characterization of a Potent Interleukin-6 Binding Peptide with Neutralizing Activity In Vivo.
 雑誌        PLoS One 10:e0141330 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0141330"">10.1371/journal.pone.0141330</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26749192"">26749192</a> (drug)
 著者        Gonzalez Garcia A, Moreno Cobo MA, Patier de la Pena JL
 タイトル      Current diagnosis and treatment of Castleman's disease.
 雑誌        Rev Clin Esp 216:146-56 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.rce.2015.11.008"">10.1016/j.rce.2015.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20625121"">20625121</a> (drug)
 著者        van Rhee F, Fayad L, Voorhees P, Furman R, Lonial S, Borghaei H, Sokol L, Crawford J, Cornfeld M, Qi M, Qin X, Herring J, Casper C, Kurzrock R
 タイトル      Siltuximab, a novel anti-interleukin-6 monoclonal antibody, for Castleman's disease.
 雑誌        J Clin Oncol 28:3701-8 (2010)
 DOI:<a href=""https://doi.org/10.1200/JCO.2009.27.2377"">10.1200/JCO.2009.27.2377</a>"
H01480,特発性黄斑円孔,,,"Idiopathic macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are constantly being changed and refined, nearly all confirm the predominant role of the vitreous in their formation. Until 1991, it was considered an untreatable condition, but now interventions are carried out to close the hole and thereby improve the central visual defect. Initially, vitrectomy surgery with long-acting gas (SF6, C3F8) and postoperative face-down positioning for at least 1 week was the only option. However, nowadays, there are a number of possible treatment choices including ocriplasmin treatment.",神経系疾患,,,,,,,,"ICD-11: 9B75.1
 ICD-10: H35.3
 MeSH: D012167","PMID:26834454
 著者        Madi HA, Masri I, Steel DH
 タイトル      Optimal management of idiopathic macular holes.
 雑誌        Clin Ophthalmol 10:97-116 (2016)
 DOI:10.2147/OPTH.S96090
 PMID:21677885 (drug)
 著者        Xirou T, Xirou V, Mangouritsas G, Feretis E, Kabanarou SA
 タイトル      Full Thickness Macular Hole Closure after Exchanging Silicone-Oil Tamponade with C(3)F(8) without Posturing.
 雑誌        Case Rep Ophthalmol 2:166-9 (2011)
 DOI:10.1159/000327695
 PMID:22894573 (drug)
 著者        Stalmans P, Benz MS, Gandorfer A, Kampik A, Girach A, Pakola S, Haller JA
 タイトル      Enzymatic vitreolysis with ocriplasmin for vitreomacular traction and macular holes.
 雑誌        N Engl J Med 367:606-15 (2012)
 DOI:10.1056/NEJMoa1110823","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01480"">H01480</a>",特発性黄斑円孔,"Idiopathic macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are constantly being changed and refined, nearly all confirm the predominant role of the vitreous in their formation. Until 1991, it was considered an untreatable condition, but now interventions are carried out to close the hole and thereby improve the central visual defect. Initially, vitrectomy surgery with long-acting gas (SF6, C3F8) and postoperative face-down positioning for at least 1 week was the only option. However, nowadays, there are a number of possible treatment choices including ocriplasmin treatment.",,,,,,,,"ICD-11: 9B75.1
 ICD-10: H35.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012167"">D012167</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26834454"">26834454</a>
 著者        Madi HA, Masri I, Steel DH
 タイトル      Optimal management of idiopathic macular holes.
 雑誌        Clin Ophthalmol 10:97-116 (2016)
 DOI:<a href=""https://doi.org/10.2147/OPTH.S96090"">10.2147/OPTH.S96090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21677885"">21677885</a> (drug)
 著者        Xirou T, Xirou V, Mangouritsas G, Feretis E, Kabanarou SA
 タイトル      Full Thickness Macular Hole Closure after Exchanging Silicone-Oil Tamponade with C(3)F(8) without Posturing.
 雑誌        Case Rep Ophthalmol 2:166-9 (2011)
 DOI:<a href=""https://doi.org/10.1159/000327695"">10.1159/000327695</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22894573"">22894573</a> (drug)
 著者        Stalmans P, Benz MS, Gandorfer A, Kampik A, Girach A, Pakola S, Haller JA
 タイトル      Enzymatic vitreolysis with ocriplasmin for vitreomacular traction and macular holes.
 雑誌        N Engl J Med 367:606-15 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1110823"">10.1056/NEJMoa1110823</a>"
H01481,"骨髄異形成症候群
 下位グループ    5q- 症候群 [DS:H01484]",,,"Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to acute myeloid leukemia. Currently, there are a few FDA-approved drugs for treatment of MDS none of which are curative. Allogeneic stem cell transplantation (ASCT) is the only curative therapy. But many MDS patients have been ineligible for transplants, since the median age at diagnosis for MDS is 75 years. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling.",血液疾患,,"TET2 [HSA:54790] [KO:K24309]
 ASXL1 [HSA:171023] [KO:K11471]
 DNMT3A [HSA:1788] [KO:K17398]
 IDH1 [HSA:3417] [KO:K00031]
 IDH2 [HSA:3418] [KO:K00031]
 GATA2 [HSA:2624] [KO:K17894]
 SF3B1 [HSA:23451] [KO:K12828]
 SRSF2 [HSA:6427] [KO:K12891]
 U2AF1 [HSA:7307] [KO:K12836]
 ZRSR2 [HSA:8233] [KO:K24273]
 RUNX1 [HSA:861] [KO:K08367]
 TP53 [HSA:7157] [KO:K04451]
 NRAS [HSA:4893] [KO:K07828]
 JAK2 [HSA:3717] [KO:K04447]",,,,"ダルベポエチンアルファ [DR:D03651]
 シクロホスファミド水和物 [DR:D00287]
 シタラビンオクホスファート水和物 [DR:D03046]
 フルダラビンリン酸エステル [DR:D01907]
 アザシチジン [DR:D03021]",,"ICD-11: 2A36 2A37 2A3Z
 ICD-10: D46
 MeSH: D009190
 OMIM: 614286","PMID:26769228
 著者        Gangat N, Patnaik MM, Tefferi A
 タイトル      Myelodysplastic syndromes: Contemporary review and how we treat.
 雑誌        Am J Hematol 91:76-89 (2016)
 DOI:10.1002/ajh.24253
 PMID:26323997
 著者        Jang JH, Harada H, Shibayama H, Shimazaki R, Kim HJ, Sawada K, Mitani K
 タイトル      A randomized controlled trial comparing darbepoetin alfa doses in red blood cell transfusion-dependent patients with low- or intermediate-1 risk myelodysplastic syndromes.
 雑誌        Int J Hematol 102:401-12 (2015)
 DOI:10.1007/s12185-015-1862-5
 PMID:22389253
 著者        Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, Wlodarski MW, Kolking B, Wichmann M, Gorlich K, Gohring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M
 タイトル      Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
 雑誌        Blood 119:3578-84 (2012)
 DOI:10.1182/blood-2011-12-399337
 PMID:24136165
 著者        Cazzola M, Della Porta MG, Malcovati L
 タイトル      The genetic basis of myelodysplasia and its clinical relevance.
 雑誌        Blood 122:4021-34 (2013)
 DOI:10.1182/blood-2013-09-381665","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01481"">H01481</a>","骨髄異形成症候群
 下位グループ    5q- 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01484"">H01484</a>]","Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to acute myeloid leukemia. Currently, there are a few FDA-approved drugs for treatment of MDS none of which are curative. Allogeneic stem cell transplantation (ASCT) is the only curative therapy. But many MDS patients have been ineligible for transplants, since the median age at diagnosis for MDS is 75 years. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling.",,"TET2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54790"">54790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24309"">K24309</a>]
 ASXL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:171023"">171023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]
 DNMT3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]
 IDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3417"">3417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 IDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3418"">3418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 GATA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2624"">2624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17894"">K17894</a>]
 SF3B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23451"">23451</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12828"">K12828</a>]
 SRSF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6427"">6427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12891"">K12891</a>]
 U2AF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7307"">7307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12836"">K12836</a>]
 ZRSR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8233"">8233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24273"">K24273</a>]
 RUNX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]",,,,"ダルベポエチンアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03651"">D03651</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 シタラビンオクホスファート水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03046"">D03046</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 アザシチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03021"">D03021</a>]",,"ICD-11: 2A36 2A37 2A3Z
 ICD-10: D46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009190"">D009190</a>
 OMIM: <a href=""https://www.omim.org/entry/614286"">614286</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26769228"">26769228</a>
 著者        Gangat N, Patnaik MM, Tefferi A
 タイトル      Myelodysplastic syndromes: Contemporary review and how we treat.
 雑誌        Am J Hematol 91:76-89 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajh.24253"">10.1002/ajh.24253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26323997"">26323997</a>
 著者        Jang JH, Harada H, Shibayama H, Shimazaki R, Kim HJ, Sawada K, Mitani K
 タイトル      A randomized controlled trial comparing darbepoetin alfa doses in red blood cell transfusion-dependent patients with low- or intermediate-1 risk myelodysplastic syndromes.
 雑誌        Int J Hematol 102:401-12 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12185-015-1862-5"">10.1007/s12185-015-1862-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22389253"">22389253</a>
 著者        Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, Wlodarski MW, Kolking B, Wichmann M, Gorlich K, Gohring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M
 タイトル      Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
 雑誌        Blood 119:3578-84 (2012)
 DOI:<a href=""https://doi.org/10.1182/blood-2011-12-399337"">10.1182/blood-2011-12-399337</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24136165"">24136165</a>
 著者        Cazzola M, Della Porta MG, Malcovati L
 タイトル      The genetic basis of myelodysplasia and its clinical relevance.
 雑誌        Blood 122:4021-34 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-09-381665"">10.1182/blood-2013-09-381665</a>"
H01482,乳児血管腫,,,"Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the lesions are associated with complications such as ulceration, bleeding, infection, pain, cardiac failure, airway compromise or eye impairment. Pathogenesis of IH is still shrouded in mystery even though various theories have been postulated to explain its origin. Recent studies provide strong evidence for the conclusion that the VEGF receptor 2 (VEGFR2) and Tumor Endothelial Marker 8 (TEM8) mutations represent risk factor mutations for hemangioma formation. In the proliferating phase, constitutive VEGFR2 signaling in ECs from hemangioma lesions affects downstream processes, including EC proliferation and migration, providing a mechanistic explanation for the rapid endothelial proliferation seen in hemangioma.",脈管疾患,,"TEM8 [HSA:84168] [KO:K20909]
 VEGFR2 [HSA:3791] [KO:K05098]",,,,プロプラノロール塩酸塩 [DR:D00483],,"ICD-11: 2E81.2Y
 ICD-10: D18.00
 MeSH: D006391
 OMIM: 602089","PMID:19190505
 著者        Boye E, Jinnin M, Olsen BR
 タイトル      Infantile hemangioma: challenges, new insights, and therapeutic promise.
 雑誌        J Craniofac Surg 20 Suppl 1:678-84 (2009)
 DOI:10.1097/SCS.0b013e318193d6c1
 PMID:19367160
 著者        Boye E, Olsen BR
 タイトル      Signaling mechanisms in infantile hemangioma.
 雑誌        Curr Opin Hematol 16:202-8 (2009)
 DOI:10.1097/MOH.0b013e32832a07ff
 PMID:23668474
 著者        Greenberger S, Bischoff J
 タイトル      Pathogenesis of infantile haemangioma.
 雑誌        Br J Dermatol 169:12-9 (2013)
 DOI:10.1111/bjd.12435
 PMID:18931684
 著者        Jinnin M, Medici D, Park L, Limaye N, Liu Y, Boscolo E, Bischoff J, Vikkula M, Boye E, Olsen BR
 タイトル      Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
 雑誌        Nat Med 14:1236-46 (2008)
 DOI:10.1038/nm.1877
 PMID:17478771 (marker)
 著者        Drut R, Altamirano E
 タイトル      Endothelial cells of intramuscular (infantile) hemangioma express glut1.
 雑誌        Int J Surg Pathol 15:166-8 (2007)
 DOI:10.1177/1066896906299123
 PMID:21039783 (description, marker, drug)
 著者        Jinnin M, Ishihara T, Boye E, Olsen BR
 タイトル      Recent progress in studies of infantile hemangioma.
 雑誌        J Dermatol 37:939-55 (2010)
 DOI:10.1111/j.1346-8138.2010.00927.x
 PMID:20826985 (description, marker, drug)
 著者        Mendiratta V, Jabeen M
 タイトル      Infantile hemangioma: an update.
 雑誌        Indian J Dermatol Venereol Leprol 76:469-75 (2010)
 DOI:10.4103/0378-6323.69048
 PMID:23266916 (drug)
 著者        Chen TS, Eichenfield LF, Friedlander SF
 タイトル      Infantile hemangiomas: an update on pathogenesis and therapy.
 雑誌        Pediatrics 131:99-108 (2013)
 DOI:10.1542/peds.2012-1128
 PMID:24906291 (drug)
 著者        Laranjo S, Costa G, Parames F, Freitas I, Martins JD, Trigo C, Pinto FF
 タイトル      The role of propranolol in the treatment of infantile hemangioma.
 雑誌        Rev Port Cardiol 33:289-95 (2014)
 DOI:10.1016/j.repc.2013.10.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01482"">H01482</a>",乳児血管腫,"Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the lesions are associated with complications such as ulceration, bleeding, infection, pain, cardiac failure, airway compromise or eye impairment. Pathogenesis of IH is still shrouded in mystery even though various theories have been postulated to explain its origin. Recent studies provide strong evidence for the conclusion that the VEGF receptor 2 (VEGFR2) and Tumor Endothelial Marker 8 (TEM8) mutations represent risk factor mutations for hemangioma formation. In the proliferating phase, constitutive VEGFR2 signaling in ECs from hemangioma lesions affects downstream processes, including EC proliferation and migration, providing a mechanistic explanation for the rapid endothelial proliferation seen in hemangioma.",,"TEM8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84168"">84168</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20909"">K20909</a>]
 VEGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3791"">3791</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05098"">K05098</a>]",,,,"プロプラノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00483"">D00483</a>]",,"ICD-11: 2E81.2Y
 ICD-10: D18.00
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006391"">D006391</a>
 OMIM: <a href=""https://www.omim.org/entry/602089"">602089</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19190505"">19190505</a>
 著者        Boye E, Jinnin M, Olsen BR
 タイトル      Infantile hemangioma: challenges, new insights, and therapeutic promise.
 雑誌        J Craniofac Surg 20 Suppl 1:678-84 (2009)
 DOI:<a href=""https://doi.org/10.1097/SCS.0b013e318193d6c1"">10.1097/SCS.0b013e318193d6c1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19367160"">19367160</a>
 著者        Boye E, Olsen BR
 タイトル      Signaling mechanisms in infantile hemangioma.
 雑誌        Curr Opin Hematol 16:202-8 (2009)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e32832a07ff"">10.1097/MOH.0b013e32832a07ff</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23668474"">23668474</a>
 著者        Greenberger S, Bischoff J
 タイトル      Pathogenesis of infantile haemangioma.
 雑誌        Br J Dermatol 169:12-9 (2013)
 DOI:<a href=""https://doi.org/10.1111/bjd.12435"">10.1111/bjd.12435</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18931684"">18931684</a>
 著者        Jinnin M, Medici D, Park L, Limaye N, Liu Y, Boscolo E, Bischoff J, Vikkula M, Boye E, Olsen BR
 タイトル      Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
 雑誌        Nat Med 14:1236-46 (2008)
 DOI:<a href=""https://doi.org/10.1038/nm.1877"">10.1038/nm.1877</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17478771"">17478771</a> (marker)
 著者        Drut R, Altamirano E
 タイトル      Endothelial cells of intramuscular (infantile) hemangioma express glut1.
 雑誌        Int J Surg Pathol 15:166-8 (2007)
 DOI:<a href=""https://doi.org/10.1177/1066896906299123"">10.1177/1066896906299123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21039783"">21039783</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Jinnin M, Ishihara T, Boye E, Olsen BR
 タイトル      Recent progress in studies of infantile hemangioma.
 雑誌        J Dermatol 37:939-55 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2010.00927.x"">10.1111/j.1346-8138.2010.00927.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20826985"">20826985</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Mendiratta V, Jabeen M
 タイトル      Infantile hemangioma: an update.
 雑誌        Indian J Dermatol Venereol Leprol 76:469-75 (2010)
 DOI:<a href=""https://doi.org/10.4103/0378-6323.69048"">10.4103/0378-6323.69048</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23266916"">23266916</a> (drug)
 著者        Chen TS, Eichenfield LF, Friedlander SF
 タイトル      Infantile hemangiomas: an update on pathogenesis and therapy.
 雑誌        Pediatrics 131:99-108 (2013)
 DOI:<a href=""https://doi.org/10.1542/peds.2012-1128"">10.1542/peds.2012-1128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24906291"">24906291</a> (drug)
 著者        Laranjo S, Costa G, Parames F, Freitas I, Martins JD, Trigo C, Pinto FF
 タイトル      The role of propranolol in the treatment of infantile hemangioma.
 雑誌        Rev Port Cardiol 33:289-95 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.repc.2013.10.018"">10.1016/j.repc.2013.10.018</a>"
H01483,"先端巨大症
 上位グループ    下垂体性成長ホルモン分泌亢進症 [DS:H01864]",,,"Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most cases of ACM occur as a result of a sporadic GH-secreting pituitary adenoma (PA). However, ACM can occur in a familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting PA. Familial ACM can occur in the context of rare inherited syndromes such as familial isolated pituitary adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM.",内分泌代謝疾患,nt06324  GHRH-GH-IGF signaling,"AIP [HSA:9049] [KO:K17767]
 GNAS [HSA:2778] [KO:K04632]
 GPR101 [HSA:83550] [KO:K08423]",,,,"ブロモクリプチンメシル酸塩 [DR:D00780]
 ペグビソマント [DR:D05394]
 オクトレオチド酢酸塩 [DR:D02250]
 ランレオチド酢酸塩 [DR:D04666]
 パシレオチドパモ酸塩 [DR:D10566]",,"ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: D000172
 OMIM: 300943 102200","PMID:26136383 (description, gene, drug)
 著者        Capatina C, Wass JA
 タイトル      60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly.
 雑誌        J Endocrinol 226:T141-60 (2015)
 DOI:10.1530/JOE-15-0109
 PMID:26815903 (descroiption, gene)
 著者        Ferrau F, Romeo PD, Puglisi S, Ragonese M, Torre ML, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavo S
 タイトル      Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
 雑誌        Endocrine 54:762-767 (2016)
 DOI:10.1007/s12020-016-0862-4
 PMID:16118335
 著者        Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
 タイトル      The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly.
 雑誌        J Clin Endocrinol Metab 90:6290-5 (2005)
 DOI:10.1210/jc.2005-0998
 PMID:25470569
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:10.1056/NEJMoa1408028
 PMID:20720589 (marker)
 著者        Biermasz N
 タイトル      Pituitary gland: New consensus in acromegaly: criteria for cure and control.
 雑誌        Nat Rev Endocrinol 6:480-1 (2010)
 DOI:10.1038/nrendo.2010.129
 PMID:12670296 (marker)
 著者        Brabant G
 タイトル      Insulin-like growth factor-I: marker for diagnosis of acromegaly and monitoring the efficacy of treatment.
 雑誌        Eur J Endocrinol 148 Suppl 2:S15-20 (2003)
 DOI:10.1530/eje.0.148S015
 PMID:17077948 (drug)
 著者        Scacchi M, Cavagnini F
 タイトル      Acromegaly.
 雑誌        Pituitary 9:297-303 (2006)
 DOI:10.1007/s11102-006-0409-4
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01483"">H01483</a>","先端巨大症
 上位グループ    下垂体性成長ホルモン分泌亢進症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01864"">H01864</a>]","Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most cases of ACM occur as a result of a sporadic GH-secreting pituitary adenoma (PA). However, ACM can occur in a familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting PA. Familial ACM can occur in the context of rare inherited syndromes such as familial isolated pituitary adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM.","<a href=""https://www.kegg.jp/network/nt06324"">nt06324</a>  GHRH-GH-IGF signaling","AIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9049"">9049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17767"">K17767</a>]
 GNAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]
 GPR101 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83550"">83550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08423"">K08423</a>]",,,,"ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 ペグビソマント [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05394"">D05394</a>]
 オクトレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02250"">D02250</a>]
 ランレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04666"">D04666</a>]
 パシレオチドパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10566"">D10566</a>]",,"ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000172"">D000172</a>
 OMIM: <a href=""https://www.omim.org/entry/300943"">300943</a> <a href=""https://www.omim.org/entry/102200"">102200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26136383"">26136383</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Capatina C, Wass JA
 タイトル      60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly.
 雑誌        J Endocrinol 226:T141-60 (2015)
 DOI:<a href=""https://doi.org/10.1530/JOE-15-0109"">10.1530/JOE-15-0109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26815903"">26815903</a> (descroiption, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene)"">gene)</a>
 著者        Ferrau F, Romeo PD, Puglisi S, Ragonese M, Torre ML, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavo S
 タイトル      Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
 雑誌        Endocrine 54:762-767 (2016)
 DOI:<a href=""https://doi.org/10.1007/s12020-016-0862-4"">10.1007/s12020-016-0862-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16118335"">16118335</a>
 著者        Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
 タイトル      The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly.
 雑誌        J Clin Endocrinol Metab 90:6290-5 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-0998"">10.1210/jc.2005-0998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25470569"">25470569</a>
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1408028"">10.1056/NEJMoa1408028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20720589"">20720589</a> (marker)
 著者        Biermasz N
 タイトル      Pituitary gland: New consensus in acromegaly: criteria for cure and control.
 雑誌        Nat Rev Endocrinol 6:480-1 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2010.129"">10.1038/nrendo.2010.129</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12670296"">12670296</a> (marker)
 著者        Brabant G
 タイトル      Insulin-like growth factor-I: marker for diagnosis of acromegaly and monitoring the efficacy of treatment.
 雑誌        Eur J Endocrinol 148 Suppl 2:S15-20 (2003)
 DOI:<a href=""https://doi.org/10.1530/eje.0.148S015"">10.1530/eje.0.148S015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17077948"">17077948</a> (drug)
 著者        Scacchi M, Cavagnini F
 タイトル      Acromegaly.
 雑誌        Pituitary 9:297-303 (2006)
 DOI:<a href=""https://doi.org/10.1007/s11102-006-0409-4"">10.1007/s11102-006-0409-4</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education"
H01484,"5q- 症候群
 上位グループ    骨髄異形成症候群 [DS:H01481]",,,"5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 as the sole cytogenetic abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with the lenalidomide. It has been suggested that the 5q- syndrome is caused by haploinsufficiency of the ribosomal protein S14 (RPS14) gene which maps to the commonly deleted region.",血液疾患,,RPS14 [HSA:6208] [KO:K02955],,,,レナリドミド水和物 [DR:D09813],,"ICD-11: 2A36
 ICD-10: D46.7
 MeSH: C535323
 OMIM: 153550","PMID:24627193
 著者        Gaballa MR, Besa EC
 タイトル      Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide.
 雑誌        Ann Hematol 93:723-33 (2014)
 DOI:10.1007/s00277-014-2022-3
 PMID:18202658
 著者        Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR
 タイトル      Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
 雑誌        Nature 451:335-9 (2008)
 DOI:10.1038/nature06494
 PMID:16735711
 著者        Nimer SD
 タイトル      Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.
 雑誌        J Clin Oncol 24:2576-82 (2006)
 DOI:10.1200/JCO.2005.03.6715
 PMID:26131937
 著者        Kronke J, Fink EC, Hollenbach PW, MacBeth KJ, Hurst SN, Udeshi ND, Chamberlain PP, Mani DR, Man HW, Gandhi AK, Svinkina T, Schneider RK, McConkey M, Jaras M, Griffiths E, Wetzler M, Bullinger L, Cathers BE, Carr SA, Chopra R, Ebert BL
 タイトル      Lenalidomide induces ubiquitination and degradation of CK1alpha in del(5q) MDS.
 雑誌        Nature 523:183-8 (2015)
 DOI:10.1038/nature14610","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01484"">H01484</a>","5q- 症候群
 上位グループ    骨髄異形成症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01481"">H01481</a>]","5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 as the sole cytogenetic abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with the lenalidomide. It has been suggested that the 5q- syndrome is caused by haploinsufficiency of the ribosomal protein S14 (RPS14) gene which maps to the commonly deleted region.",,"RPS14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6208"">6208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02955"">K02955</a>]",,,,"レナリドミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09813"">D09813</a>]",,"ICD-11: 2A36
 ICD-10: D46.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535323"">C535323</a>
 OMIM: <a href=""https://www.omim.org/entry/153550"">153550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24627193"">24627193</a>
 著者        Gaballa MR, Besa EC
 タイトル      Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide.
 雑誌        Ann Hematol 93:723-33 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00277-014-2022-3"">10.1007/s00277-014-2022-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202658"">18202658</a>
 著者        Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR
 タイトル      Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
 雑誌        Nature 451:335-9 (2008)
 DOI:<a href=""https://doi.org/10.1038/nature06494"">10.1038/nature06494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16735711"">16735711</a>
 著者        Nimer SD
 タイトル      Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.
 雑誌        J Clin Oncol 24:2576-82 (2006)
 DOI:<a href=""https://doi.org/10.1200/JCO.2005.03.6715"">10.1200/JCO.2005.03.6715</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26131937"">26131937</a>
 著者        Kronke J, Fink EC, Hollenbach PW, MacBeth KJ, Hurst SN, Udeshi ND, Chamberlain PP, Mani DR, Man HW, Gandhi AK, Svinkina T, Schneider RK, McConkey M, Jaras M, Griffiths E, Wetzler M, Bullinger L, Cathers BE, Carr SA, Chopra R, Ebert BL
 タイトル      Lenalidomide induces ubiquitination and degradation of CK1alpha in del(5q) MDS.
 雑誌        Nature 523:183-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/nature14610"">10.1038/nature14610</a>"
H01485,"常染色体劣性精神遅滞 -42
 上位グループ    先天性 GPI 欠損症 [DS:H01489]",,,"Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy. Homozygous mutation in PGAP1 has been identified.",先天性代謝異常症,nt06018  GPI-anchor biosynthesis,PGAP1 [HSA:80055] [KO:K05294],,,,,,OMIM: 615802,"PMID:24784135
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:10.1371/journal.pgen.1004320","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01485"">H01485</a>","常染色体劣性精神遅滞 -42
 上位グループ    先天性 GPI 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>]","Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy. Homozygous mutation in PGAP1 has been identified.","<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","PGAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80055"">80055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05294"">K05294</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/615802"">615802</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24784135"">24784135</a>
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004320"">10.1371/journal.pgen.1004320</a>"
H01486,"多発先天奇形-筋緊張低下-けいれん症候群
 上位グループ    先天性 GPI 欠損症 [DS:H01489]",,,"The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive disorders whereas PIGA deficiency causes an X-linked lethal disorder. Clinical features are variable dependent on genotypes, often include (neonatal) hypotonia, seizures, various anomalies involving nervous system structural malformations, delayed or lack of psychomotor development, and various congenial organ anomalies.",先天性代謝異常症,nt06018  GPI-anchor biosynthesis,"(MCAHS1) PIGN [HSA:23556] [KO:K05285]
 (MCAHS2) PIGA [HSA:5277] [KO:K03857]
 (MCAHS3) PIGT [HSA:51604] [KO:K05292]
 (MCAHS4) PIGQ [HSA:9091] [KO:K03860]",,,,,,"ICD-11: 5C54
 ICD-10: Q87.8
 OMIM: 614080 300868 615398 618548","PMID:26879448
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:10.1016/j.ejpn.2016.01.007
 PMID:24259184
 著者        van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM
 タイトル      Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
 雑誌        Am J Med Genet A 164A:29-35 (2014)
 DOI:10.1002/ajmg.a.36184
 PMID:23636107
 著者        Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A
 タイトル      A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
 雑誌        J Med Genet 50:521-8 (2013)
 DOI:10.1136/jmedgenet-2013-101654
 PMID:31148362
 著者        Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT
 タイトル      PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
 雑誌        Am J Med Genet A 179:1270-1275 (2019)
 DOI:10.1002/ajmg.a.61185","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01486"">H01486</a>","多発先天奇形-筋緊張低下-けいれん症候群
 上位グループ    先天性 GPI 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>]","The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive disorders whereas PIGA deficiency causes an X-linked lethal disorder. Clinical features are variable dependent on genotypes, often include (neonatal) hypotonia, seizures, various anomalies involving nervous system structural malformations, delayed or lack of psychomotor development, and various congenial organ anomalies.","<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","(MCAHS1) PIGN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23556"">23556</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05285"">K05285</a>]
 (MCAHS2) PIGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5277"">5277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03857"">K03857</a>]
 (MCAHS3) PIGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51604"">51604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05292"">K05292</a>]
 (MCAHS4) PIGQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9091"">9091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03860"">K03860</a>]",,,,,,"ICD-11: 5C54
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/614080"">614080</a> <a href=""https://www.omim.org/entry/300868"">300868</a> <a href=""https://www.omim.org/entry/615398"">615398</a> <a href=""https://www.omim.org/entry/618548"">618548</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26879448"">26879448</a>
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2016.01.007"">10.1016/j.ejpn.2016.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24259184"">24259184</a>
 著者        van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM
 タイトル      Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
 雑誌        Am J Med Genet A 164A:29-35 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36184"">10.1002/ajmg.a.36184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23636107"">23636107</a>
 著者        Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A
 タイトル      A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
 雑誌        J Med Genet 50:521-8 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101654"">10.1136/jmedgenet-2013-101654</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31148362"">31148362</a>
 著者        Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT
 タイトル      PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
 雑誌        Am J Med Genet A 179:1270-1275 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61185"">10.1002/ajmg.a.61185</a>"
H01487,"CHIME 症候群;
 コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群;
 Zunich 神経外胚葉症候群
 上位グループ    先天性 GPI 欠損症 [DS:H01489]",,,"CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder.",先天性代謝異常症,nt06018  GPI-anchor biosynthesis,PIGL [HSA:9487] [KO:K03434],,,,,,"ICD-11: 5C54
 ICD-10: Q87.8
 OMIM: 280000","PMID:22444671
 著者        Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH
 タイトル      Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
 雑誌        Am J Hum Genet 90:685-8 (2012)
 DOI:10.1016/j.ajhg.2012.02.010
 PMID:8893234
 著者        Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H
 タイトル      Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.
 雑誌        Pediatr Dermatol 13:363-71 (1996)
 DOI:10.1111/j.1525-1470.1996.tb00702.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01487"">H01487</a>","CHIME 症候群;
 コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群;
 Zunich 神経外胚葉症候群
 上位グループ    先天性 GPI 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>]","CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder.","<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","PIGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9487"">9487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03434"">K03434</a>]",,,,,,"ICD-11: 5C54
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/280000"">280000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22444671"">22444671</a>
 著者        Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH
 タイトル      Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
 雑誌        Am J Hum Genet 90:685-8 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.010"">10.1016/j.ajhg.2012.02.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8893234"">8893234</a>
 著者        Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H
 タイトル      Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.
 雑誌        Pediatr Dermatol 13:363-71 (1996)
 DOI:<a href=""https://doi.org/10.1111/j.1525-1470.1996.tb00702.x"">10.1111/j.1525-1470.1996.tb00702.x</a>"
H01488,"高ホスファターゼ症-精神遅滞症候群;
 Marby 症候群
 上位グループ    先天性 GPI 欠損症 [DS:H01489]
 常染色体劣性精神遅滞症候群 [DS:H01911]",,,"Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.",先天性代謝異常症,nt06018  GPI-anchor biosynthesis,"(HPMRS1) PIGV [HSA:55650] [KO:K07542]
 (HPMRS2) PIGO [HSA:84720] [KO:K05288]
 (HPMRS3) PGAP2 [HSA:27315] [KO:K23552]
 (HPMRS4) PGAP3 [HSA:93210] [KO:K23553]
 (HPMRS5) PIGW [HSA:284098] [KO:K05283]
 (HPMRS6) PIGY [HSA:84992] [KO:K11001]",,,,,,OMIM: 239300 614749 614207 615716 616025 616809,"PMID:26879448
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:10.1016/j.ejpn.2016.01.007
 PMID:21739589
 著者        Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P
 タイトル      Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
 雑誌        Am J Med Genet A 155A:1917-22 (2011)
 DOI:10.1002/ajmg.a.34102
 PMID:22683086
 著者        Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
 タイトル      Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
 雑誌        Am J Hum Genet 91:146-51 (2012)
 DOI:10.1016/j.ajhg.2012.05.004
 PMID:23561847
 著者        Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
 タイトル      PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
 雑誌        Am J Hum Genet 92:584-9 (2013)
 DOI:10.1016/j.ajhg.2013.03.011
 PMID:24439110
 著者        Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
 タイトル      Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
 雑誌        Am J Hum Genet 94:278-87 (2014)
 DOI:10.1016/j.ajhg.2013.12.012
 PMID:24367057
 著者        Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y
 タイトル      Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
 雑誌        J Med Genet 51:203-7 (2014)
 DOI:10.1136/jmedgenet-2013-102156
 PMID:26293662
 著者        Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF
 タイトル      Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
 雑誌        Hum Mol Genet 24:6146-59 (2015)
 DOI:10.1093/hmg/ddv331","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01488"">H01488</a>","高ホスファターゼ症-精神遅滞症候群;
 Marby 症候群
 上位グループ    先天性 GPI 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>]
 常染色体劣性精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01911"">H01911</a>]","Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.","<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","(HPMRS1) PIGV [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55650"">55650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07542"">K07542</a>]
 (HPMRS2) PIGO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84720"">84720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05288"">K05288</a>]
 (HPMRS3) PGAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27315"">27315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23552"">K23552</a>]
 (HPMRS4) PGAP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93210"">93210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23553"">K23553</a>]
 (HPMRS5) PIGW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284098"">284098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05283"">K05283</a>]
 (HPMRS6) PIGY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84992"">84992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11001"">K11001</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/239300"">239300</a> <a href=""https://www.omim.org/entry/614749"">614749</a> <a href=""https://www.omim.org/entry/614207"">614207</a> <a href=""https://www.omim.org/entry/615716"">615716</a> <a href=""https://www.omim.org/entry/616025"">616025</a> <a href=""https://www.omim.org/entry/616809"">616809</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26879448"">26879448</a>
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2016.01.007"">10.1016/j.ejpn.2016.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21739589"">21739589</a>
 著者        Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P
 タイトル      Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
 雑誌        Am J Med Genet A 155A:1917-22 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34102"">10.1002/ajmg.a.34102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22683086"">22683086</a>
 著者        Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
 タイトル      Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
 雑誌        Am J Hum Genet 91:146-51 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.004"">10.1016/j.ajhg.2012.05.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23561847"">23561847</a>
 著者        Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
 タイトル      PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
 雑誌        Am J Hum Genet 92:584-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.011"">10.1016/j.ajhg.2013.03.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24439110"">24439110</a>
 著者        Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
 タイトル      Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
 雑誌        Am J Hum Genet 94:278-87 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.012"">10.1016/j.ajhg.2013.12.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24367057"">24367057</a>
 著者        Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y
 タイトル      Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
 雑誌        J Med Genet 51:203-7 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102156"">10.1136/jmedgenet-2013-102156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26293662"">26293662</a>
 著者        Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF
 タイトル      Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
 雑誌        Hum Mol Genet 24:6146-59 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv331"">10.1093/hmg/ddv331</a>"
H01489,"先天性 GPI 欠損症;
 GPI 生合成欠損症
 下位グループ    PIGM 先天性グリコシル化異常症 [DS:H01127]
 常染色体劣性精神遅滞 -42 [DS:H01485]
 多発先天奇形-筋緊張低下-けいれん症候群 [DS:H01486]
 CHIME症候群 [DS:H01487]
 高ホスファターゼ症-精神遅滞症候群 [DS:H01488]",,,"Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) are a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations in several genes have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, hyperphosphatasia, (neonatal) seizures, hypotonia, and neurological symptoms, growth abnormalities, and congenital abnormalities.",先天性代謝異常症,nt06018  GPI-anchor biosynthesis,"(GPIBD1) PIGM [HSA:93183] [KO:K05284]
 (GPIBD2) PIGV [HSA:55650] [KO:K07542]
 (GPIBD3) PIGN [HSA:23556] [KO:K05285]
 (GPIBD4) PIGA [HSA:5277] [KO:K03857]
 (GPIBD5) PIGL [HSA:9487] [KO:K03434]
 (GPIBD6) PIGO [HSA:84720] [KO:K05288]
 (GPIBD7) PIGT [HSA:51604] [KO:K05292]
 (GPIBD8) PGAP2 [HSA:27315] [KO:K23552]
 (GPIBD9) PGAP1 [HSA:80055] [KO:K05294]
 (GPIBD10) PGAP3 [HSA:93210] [KO:K23553]
 (GPIBD11) PIGW [HSA:284098] [KO:K05283]
 (GPIBD12) PIGY [HSA:84992] [KO:K11001]
 (GPIBD13) PIGG [HSA:54872] [KO:K05310]
 (GPIBD14) PIGP [HSA:51227] [KO:K03861]
 (GPIBD15) GPAA1 [HSA:8733] [KO:K05289]
 (GPIBD16) PIGC [HSA:5279] [KO:K03859]
 (GPIBD17) PIGH [HSA:5283] [KO:K03858]
 (GPIBD18) PIGS [HSA:94005] [KO:K05291]
 (GPIBD19) PIGQ [HSA:9091] [KO:K03860]
 (GPIBD20) PIGB [HSA:9488] [KO:K05286]
 (GPIBD21) PIGU [HSA:128869] [KO:K05293]
 (GPIBD22) PIGK [HSA:10026] [KO:K05290]",,,,,,"ICD-11: 5C54.Y
 OMIM: 610293 239300 614080 300868 280000 614749 615398 614207 615802 615716 616025 616809 616917 617599 617810 617816 618010 618143 618548 618580 618590 618879","PMID:26879448
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:10.1016/j.ejpn.2016.01.007
 PMID:24727937
 著者        Kinoshita T
 タイトル      Biosynthesis and deficiencies of glycosylphosphatidylinositol.
 雑誌        Proc Jpn Acad Ser B Phys Biol Sci 90:130-43 (2014)
 DOI:10.2183/pjab.90.130
 PMID:24784135
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:10.1371/journal.pgen.1004320
 PMID:28334793
 著者        Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM
 タイトル      Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
 雑誌        Hum Mol Genet 26:1706-1715 (2017)
 DOI:10.1093/hmg/ddx077
 PMID:29100095
 著者        Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM
 タイトル      Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
 雑誌        Am J Hum Genet 101:856-865 (2017)
 DOI:10.1016/j.ajhg.2017.09.020
 PMID:27694521
 著者        Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O
 タイトル      Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
 雑誌        J Med Genet 54:196-201 (2017)
 DOI:10.1136/jmedgenet-2016-104202
 PMID:29573052
 著者        Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, Kinoshita T, Kini U, Taylor JC
 タイトル      A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
 雑誌        Hum Mutat 39:822-826 (2018)
 DOI:10.1002/humu.23420
 PMID:30269814
 著者        Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 103:602-611 (2018)
 DOI:10.1016/j.ajhg.2018.08.014
 PMID:31256876
 著者        Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
 雑誌        Am J Hum Genet 105:384-394 (2019)
 DOI:10.1016/j.ajhg.2019.05.019
 PMID:31353022
 著者        Knaus A, Kortum F, Kleefstra T, Stray-Pedersen A, Dukic D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM
 タイトル      Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
 雑誌        Am J Hum Genet 105:395-402 (2019)
 DOI:10.1016/j.ajhg.2019.06.009
 PMID:32220290
 著者        Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM
 タイトル      Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
 雑誌        Am J Hum Genet 106:484-495 (2020)
 DOI:10.1016/j.ajhg.2020.03.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01489"">H01489</a>","先天性 GPI 欠損症;
 GPI 生合成欠損症
 下位グループ    PIGM 先天性グリコシル化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01127"">H01127</a>]
 常染色体劣性精神遅滞 -42 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01485"">H01485</a>]
 多発先天奇形-筋緊張低下-けいれん症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01486"">H01486</a>]
 CHIME症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01487"">H01487</a>]
 高ホスファターゼ症-精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01488"">H01488</a>]","Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) are a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations in several genes have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, hyperphosphatasia, (neonatal) seizures, hypotonia, and neurological symptoms, growth abnormalities, and congenital abnormalities.","<a href=""https://www.kegg.jp/network/nt06018"">nt06018</a>  GPI-anchor biosynthesis","(GPIBD1) PIGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93183"">93183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05284"">K05284</a>]
 (GPIBD2) PIGV [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55650"">55650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07542"">K07542</a>]
 (GPIBD3) PIGN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23556"">23556</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05285"">K05285</a>]
 (GPIBD4) PIGA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5277"">5277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03857"">K03857</a>]
 (GPIBD5) PIGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9487"">9487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03434"">K03434</a>]
 (GPIBD6) PIGO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84720"">84720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05288"">K05288</a>]
 (GPIBD7) PIGT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51604"">51604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05292"">K05292</a>]
 (GPIBD8) PGAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27315"">27315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23552"">K23552</a>]
 (GPIBD9) PGAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80055"">80055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05294"">K05294</a>]
 (GPIBD10) PGAP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93210"">93210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23553"">K23553</a>]
 (GPIBD11) PIGW [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284098"">284098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05283"">K05283</a>]
 (GPIBD12) PIGY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84992"">84992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11001"">K11001</a>]
 (GPIBD13) PIGG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54872"">54872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05310"">K05310</a>]
 (GPIBD14) PIGP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51227"">51227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03861"">K03861</a>]
 (GPIBD15) GPAA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8733"">8733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05289"">K05289</a>]
 (GPIBD16) PIGC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5279"">5279</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03859"">K03859</a>]
 (GPIBD17) PIGH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5283"">5283</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03858"">K03858</a>]
 (GPIBD18) PIGS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94005"">94005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05291"">K05291</a>]
 (GPIBD19) PIGQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9091"">9091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03860"">K03860</a>]
 (GPIBD20) PIGB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9488"">9488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05286"">K05286</a>]
 (GPIBD21) PIGU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128869"">128869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05293"">K05293</a>]
 (GPIBD22) PIGK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10026"">10026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05290"">K05290</a>]",,,,,,"ICD-11: 5C54.Y
 OMIM: <a href=""https://www.omim.org/entry/610293"">610293</a> <a href=""https://www.omim.org/entry/239300"">239300</a> <a href=""https://www.omim.org/entry/614080"">614080</a> <a href=""https://www.omim.org/entry/300868"">300868</a> <a href=""https://www.omim.org/entry/280000"">280000</a> <a href=""https://www.omim.org/entry/614749"">614749</a> <a href=""https://www.omim.org/entry/615398"">615398</a> <a href=""https://www.omim.org/entry/614207"">614207</a> <a href=""https://www.omim.org/entry/615802"">615802</a> <a href=""https://www.omim.org/entry/615716"">615716</a> <a href=""https://www.omim.org/entry/616025"">616025</a> <a href=""https://www.omim.org/entry/616809"">616809</a> <a href=""https://www.omim.org/entry/616917"">616917</a> <a href=""https://www.omim.org/entry/617599"">617599</a> <a href=""https://www.omim.org/entry/617810"">617810</a> <a href=""https://www.omim.org/entry/617816"">617816</a> <a href=""https://www.omim.org/entry/618010"">618010</a> <a href=""https://www.omim.org/entry/618143"">618143</a> <a href=""https://www.omim.org/entry/618548"">618548</a> <a href=""https://www.omim.org/entry/618580"">618580</a> <a href=""https://www.omim.org/entry/618590"">618590</a> <a href=""https://www.omim.org/entry/618879"">618879</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26879448"">26879448</a>
 著者        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
 タイトル      Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
 雑誌        Eur J Paediatr Neurol 20:462-73 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2016.01.007"">10.1016/j.ejpn.2016.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24727937"">24727937</a>
 著者        Kinoshita T
 タイトル      Biosynthesis and deficiencies of glycosylphosphatidylinositol.
 雑誌        Proc Jpn Acad Ser B Phys Biol Sci 90:130-43 (2014)
 DOI:<a href=""https://doi.org/10.2183/pjab.90.130"">10.2183/pjab.90.130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24784135"">24784135</a>
 著者        Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
 タイトル      Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
 雑誌        PLoS Genet 10:e1004320 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004320"">10.1371/journal.pgen.1004320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28334793"">28334793</a>
 著者        Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM
 タイトル      Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
 雑誌        Hum Mol Genet 26:1706-1715 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx077"">10.1093/hmg/ddx077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100095"">29100095</a>
 著者        Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM
 タイトル      Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
 雑誌        Am J Hum Genet 101:856-865 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.020"">10.1016/j.ajhg.2017.09.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27694521"">27694521</a>
 著者        Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O
 タイトル      Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
 雑誌        J Med Genet 54:196-201 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104202"">10.1136/jmedgenet-2016-104202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29573052"">29573052</a>
 著者        Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, Kinoshita T, Kini U, Taylor JC
 タイトル      A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
 雑誌        Hum Mutat 39:822-826 (2018)
 DOI:<a href=""https://doi.org/10.1002/humu.23420"">10.1002/humu.23420</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30269814"">30269814</a>
 著者        Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
 雑誌        Am J Hum Genet 103:602-611 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.08.014"">10.1016/j.ajhg.2018.08.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31256876"">31256876</a>
 著者        Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM
 タイトル      Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
 雑誌        Am J Hum Genet 105:384-394 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.05.019"">10.1016/j.ajhg.2019.05.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31353022"">31353022</a>
 著者        Knaus A, Kortum F, Kleefstra T, Stray-Pedersen A, Dukic D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM
 タイトル      Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
 雑誌        Am J Hum Genet 105:395-402 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.009"">10.1016/j.ajhg.2019.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32220290"">32220290</a>
 著者        Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM
 タイトル      Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
 雑誌        Am J Hum Genet 106:484-495 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.03.001"">10.1016/j.ajhg.2020.03.001</a>"
H01490,多発性硬化症,,,"Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women. There are four types of MS according to their relapsing or progressive pattern that include relapsing-remitting (RRMS), secondary progressive (SPMS), primary progressive (PPMS), and progressive relapsing (PRMS). In most patients, the disease has a relapsing-remitting course during the first years. Within 10 years, approximately 50% of patients progress to SPMS. The aetiology of MS is not well understood, but it is likely multifactorial, combining both genetic and environmental factors. Recently, the literature on the risk factors for MS has grown substantially. They indicate that a combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to adequately control disease activity in some patients. In that case, it has been recommended to switch these patients early to a therapy of higher efficacy. Currently, 13 different drugs with ten different active components are licensed in the European Union (EU) and the United States (US) for the treatment of MS.",神経系疾患,,"PDCD1 [HSA:5133] [KO:K06744]
 HLA-DRB1 [HSA:3123] [KO:K06752]
 HLA-DQB1 [HSA:3119] [KO:K06752]
 TNFRSF1A [HSA:7132] [KO:K03158]",Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079],,,"オファツムマブ [DR:D09314]
 ナタリズマブ [DR:D06886]
 フマル酸ジメチル [DR:D03846]
 ダントロレンナトリウム水和物 [DR:D02274]
 バクロフェン [DR:D00241]
 チザニジン塩酸塩 [DR:D00776]
 アフロクアロン [DR:D01638]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 グラチラマー酢酸塩 [DR:D04318]
 フィンゴリモド塩酸塩 [DR:D04187]
 シポニモドフマル酸 [DR:D11072]
 インターフェロンベータ-1a [DR:D04554]
 インターフェロンベータ-1b [DR:D00746]",,"ICD-11: 8A40
 ICD-10: G35
 MeSH: D009103
 OMIM: 126200 614810","PMID:24424194
 著者        Milo R, Miller A
 タイトル      Revised diagnostic criteria of multiple sclerosis.
 雑誌        Autoimmun Rev 13:518-24 (2014)
 DOI:10.1016/j.autrev.2014.01.012
 PMID:25802867
 著者        McKay KA, Kwan V, Duggan T, Tremlett H
 タイトル      Risk factors associated with the onset of relapsing-remitting and primary progressive multiple sclerosis: a systematic review.
 雑誌        Biomed Res Int 2015:817238 (2015)
 DOI:10.1155/2015/817238
 PMID:23730204
 著者        Goris A, Pauwels I, Dubois B
 タイトル      Progress in multiple sclerosis genetics.
 雑誌        Curr Genomics 13:646-63 (2012)
 DOI:10.2174/138920212803759695
 PMID:16945427 (marker)
 著者        Link H, Huang YM
 タイトル      Oligoclonal bands in multiple sclerosis cerebrospinal fluid: an update on methodology and clinical usefulness.
 雑誌        J Neuroimmunol 180:17-28 (2006)
 DOI:10.1016/j.jneuroim.2006.07.006
 PMID:26810535 (drug)
 著者        Rio J, Ruiz-Pena JL
 タイトル      Short-term suboptimal response criteria for predicting long-term non-response to first-line disease modifying therapies in multiple sclerosis: A systematic review and meta-analysis.
 雑誌        J Neurol Sci 361:158-67 (2016)
 DOI:10.1016/j.jns.2015.12.043
 PMID:25912246 (drug)
 著者        Dorr J, Paul F
 タイトル      The transition from first-line to second-line therapy in multiple sclerosis.
 雑誌        Curr Treat Options Neurol 17:354 (2015)
 DOI:10.1007/s11940-015-0354-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490"">H01490</a>",多発性硬化症,"Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women. There are four types of MS according to their relapsing or progressive pattern that include relapsing-remitting (RRMS), secondary progressive (SPMS), primary progressive (PPMS), and progressive relapsing (PRMS). In most patients, the disease has a relapsing-remitting course during the first years. Within 10 years, approximately 50% of patients progress to SPMS. The aetiology of MS is not well understood, but it is likely multifactorial, combining both genetic and environmental factors. Recently, the literature on the risk factors for MS has grown substantially. They indicate that a combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to adequately control disease activity in some patients. In that case, it has been recommended to switch these patients early to a therapy of higher efficacy. Currently, 13 different drugs with ten different active components are licensed in the European Union (EU) and the United States (US) for the treatment of MS.",,"PDCD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5133"">5133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06744"">K06744</a>]
 HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 TNFRSF1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7132"">7132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03158"">K03158</a>]","Human herpesvirus 4 (Epstein-Barr virus) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40079"">T40079</a>]",,,"オファツムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09314"">D09314</a>]
 ナタリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06886"">D06886</a>]
 フマル酸ジメチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03846"">D03846</a>]
 ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]
 バクロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00241"">D00241</a>]
 チザニジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00776"">D00776</a>]
 アフロクアロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01638"">D01638</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 グラチラマー酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04318"">D04318</a>]
 フィンゴリモド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04187"">D04187</a>]
 シポニモドフマル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11072"">D11072</a>]
 インターフェロンベータ-1a [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04554"">D04554</a>]
 インターフェロンベータ-1b [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00746"">D00746</a>]",,"ICD-11: 8A40
 ICD-10: G35
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009103"">D009103</a>
 OMIM: <a href=""https://www.omim.org/entry/126200"">126200</a> <a href=""https://www.omim.org/entry/614810"">614810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24424194"">24424194</a>
 著者        Milo R, Miller A
 タイトル      Revised diagnostic criteria of multiple sclerosis.
 雑誌        Autoimmun Rev 13:518-24 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.01.012"">10.1016/j.autrev.2014.01.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25802867"">25802867</a>
 著者        McKay KA, Kwan V, Duggan T, Tremlett H
 タイトル      Risk factors associated with the onset of relapsing-remitting and primary progressive multiple sclerosis: a systematic review.
 雑誌        Biomed Res Int 2015:817238 (2015)
 DOI:<a href=""https://doi.org/10.1155/2015/817238"">10.1155/2015/817238</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23730204"">23730204</a>
 著者        Goris A, Pauwels I, Dubois B
 タイトル      Progress in multiple sclerosis genetics.
 雑誌        Curr Genomics 13:646-63 (2012)
 DOI:<a href=""https://doi.org/10.2174/138920212803759695"">10.2174/138920212803759695</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16945427"">16945427</a> (marker)
 著者        Link H, Huang YM
 タイトル      Oligoclonal bands in multiple sclerosis cerebrospinal fluid: an update on methodology and clinical usefulness.
 雑誌        J Neuroimmunol 180:17-28 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jneuroim.2006.07.006"">10.1016/j.jneuroim.2006.07.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26810535"">26810535</a> (drug)
 著者        Rio J, Ruiz-Pena JL
 タイトル      Short-term suboptimal response criteria for predicting long-term non-response to first-line disease modifying therapies in multiple sclerosis: A systematic review and meta-analysis.
 雑誌        J Neurol Sci 361:158-67 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2015.12.043"">10.1016/j.jns.2015.12.043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25912246"">25912246</a> (drug)
 著者        Dorr J, Paul F
 タイトル      The transition from first-line to second-line therapy in multiple sclerosis.
 雑誌        Curr Treat Options Neurol 17:354 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11940-015-0354-5"">10.1007/s11940-015-0354-5</a>"
H01491,"視神経脊髄炎;
 デビック病",,,"Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed to be an autoimmune disorder triggered by an environmental factor, possibly an infection, in genetically susceptible individuals. The principal effector in NMO is the self-reactive, complement-activating anti-AQP4 antibody. AQP4 water channel is a component of the dystroglycan protein complex located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments differ. Corticosteroids and plasma exchange (PLEX) are the most commonly used therapeutic modalities in acute settings. Corticosteroids exert global immunosuppressive and anti-inflammatory effects, whereas PLEX removes antibodies, complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological disability in NMO.",免疫系疾患; 神経系疾患,,AQP4 [HSA:361] [KO:K09866],,,,"リツキシマブ [DR:D02994]
 エクリズマブ [DR:D03940]
 イネビリズマブ [DR:D11757]
 サトラリズマブ [DR:D11079]",See also H01490 Multiple sclerosis.,"ICD-11: 8A43
 ICD-10: G36.0
 MeSH: D009471","PMID:26950113
 著者        Jasiak-Zatonska M, Kalinowska-Lyszczarz A, Michalak S, Kozubski W
 タイトル      The Immunology of Neuromyelitis Optica-Current Knowledge, Clinical Implications, Controversies and Future Perspectives.
 雑誌        Int J Mol Sci 17:273 (2016)
 DOI:10.3390/ijms17030273
 PMID:20639914 (marker)
 著者        Jarius S, Wildemann B
 タイトル      AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance.
 雑誌        Nat Rev Neurol 6:383-92 (2010)
 DOI:10.1038/nrneurol.2010.72
 PMID:16087714 (marker)
 著者        Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR
 タイトル      IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel.
 雑誌        J Exp Med 202:473-7 (2005)
 DOI:10.1084/jem.20050304
 PMID:24455211 (drug)
 著者        Bienia B, Balabanov R
 タイトル      Immunotherapy of neuromyelitis optica.
 雑誌        Autoimmune Dis 2013:741490 (2013)
 DOI:10.1155/2013/741490
 PMID:23623397 (drug)
 著者        Pittock SJ, Lennon VA, McKeon A, Mandrekar J, Weinshenker BG, Lucchinetti CF, O'Toole O, Wingerchuk DM
 タイトル      Eculizumab in AQP4-IgG-positive relapsing neuromyelitis optica spectrum disorders: an open-label pilot study.
 雑誌        Lancet Neurol 12:554-62 (2013)
 DOI:10.1016/S1474-4422(13)70076-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01491"">H01491</a>","視神経脊髄炎;
 デビック病","Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed to be an autoimmune disorder triggered by an environmental factor, possibly an infection, in genetically susceptible individuals. The principal effector in NMO is the self-reactive, complement-activating anti-AQP4 antibody. AQP4 water channel is a component of the dystroglycan protein complex located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments differ. Corticosteroids and plasma exchange (PLEX) are the most commonly used therapeutic modalities in acute settings. Corticosteroids exert global immunosuppressive and anti-inflammatory effects, whereas PLEX removes antibodies, complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological disability in NMO.",,"AQP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:361"">361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09866"">K09866</a>]",,,,"リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]
 エクリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03940"">D03940</a>]
 イネビリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11757"">D11757</a>]
 サトラリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11079"">D11079</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490"">H01490</a> Multiple sclerosis.","ICD-11: 8A43
 ICD-10: G36.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009471"">D009471</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26950113"">26950113</a>
 著者        Jasiak-Zatonska M, Kalinowska-Lyszczarz A, Michalak S, Kozubski W
 タイトル      The Immunology of Neuromyelitis Optica-Current Knowledge, Clinical Implications, Controversies and Future Perspectives.
 雑誌        Int J Mol Sci 17:273 (2016)
 DOI:<a href=""https://doi.org/10.3390/ijms17030273"">10.3390/ijms17030273</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20639914"">20639914</a> (marker)
 著者        Jarius S, Wildemann B
 タイトル      AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance.
 雑誌        Nat Rev Neurol 6:383-92 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrneurol.2010.72"">10.1038/nrneurol.2010.72</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16087714"">16087714</a> (marker)
 著者        Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR
 タイトル      IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel.
 雑誌        J Exp Med 202:473-7 (2005)
 DOI:<a href=""https://doi.org/10.1084/jem.20050304"">10.1084/jem.20050304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24455211"">24455211</a> (drug)
 著者        Bienia B, Balabanov R
 タイトル      Immunotherapy of neuromyelitis optica.
 雑誌        Autoimmune Dis 2013:741490 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/741490"">10.1155/2013/741490</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23623397"">23623397</a> (drug)
 著者        Pittock SJ, Lennon VA, McKeon A, Mandrekar J, Weinshenker BG, Lucchinetti CF, O'Toole O, Wingerchuk DM
 タイトル      Eculizumab in AQP4-IgG-positive relapsing neuromyelitis optica spectrum disorders: an open-label pilot study.
 雑誌        Lancet Neurol 12:554-62 (2013)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(13)70076-0"">10.1016/S1474-4422(13)70076-0</a>"
H01492,全身性強皮症,,,"Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.",免疫系疾患; 皮膚疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
 HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
 HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
 HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
 STAT4 (polymorphism) [HSA:6775] [KO:K11222]
 IRF5 (polymorphism) [HSA:3663] [KO:K09446]
 CD247 (polymorphism) [HSA:919] [KO:K06453]
 PTPN22 (polymorphism) [HSA:26191] [KO:K18024]
 BANK1 (polymorphism) [HSA:55024]
 TNFAIP3 (polymorphism) [HSA:7128] [KO:K11859]
 TNIP1 (polymorphism) [HSA:10318] [KO:K23829]
 TNFSF4 (polymorphism) [HSA:7292] [KO:K05469]
 IL-1A (polymorphism) [HSA:3552] [KO:K04383]
 IL-1B (polymorphism) [HSA:3553] [KO:K04519]
 IL-1R1 (polymorphism) [HSA:3554] [KO:K04386]
 CCR6 (polymorphism) [HSA:1235] [KO:K04181]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ボセンタン水和物 [DR:D01227]
 ヒドロコルチゾン [DR:D00088]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]
 リツキシマブ [DR:D02994]",CREST syndrome is the limited cutaneous form of systemic sclerosis.,"ICD-11: 4A42
 ICD-10: M34
 MeSH: D012595
 OMIM: 181750","PMID:23541012
 著者        Shah AA, Wigley FM
 タイトル      My approach to the treatment of scleroderma.
 雑誌        Mayo Clin Proc 88:377-93 (2013)
 DOI:10.1016/j.mayocp.2013.01.018
 PMID:20175839 (marker)
 著者        Hamaguchi Y
 タイトル      Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis.
 雑誌        J Dermatol 37:42-53 (2010)
 DOI:10.1111/j.1346-8138.2009.00762.x
 PMID:25777745
 著者        Korman BD, Criswell LA
 タイトル      Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.
 雑誌        Curr Rheumatol Rep 17:21 (2015)
 DOI:10.1007/s11926-014-0484-x
 PMID:26826434
 著者        Murdaca G, Contatore M, Gulli R, Mandich P, Puppo F
 タイトル      Genetic factors and systemic sclerosis.
 雑誌        Autoimmun Rev 15:427-32 (2016)
 DOI:10.1016/j.autrev.2016.01.016
 PMID:19758208 (env_factor)
 著者        Arnson Y, Amital H, Guiducci S, Matucci-Cerinic M, Valentini G, Barzilai O, Maya R, Shoenfeld Y
 タイトル      The role of infections in the immunopathogensis of systemic sclerosis--evidence from serological studies.
 雑誌        Ann N Y Acad Sci 1173:627-32 (2009)
 DOI:10.1111/j.1749-6632.2009.04808.x
 PMID:21691743 (drug)
 著者        Poormoghim H, Moradi Lakeh M, Mohammadipour M, Sodagari F, Toofaninjed N
 タイトル      Cyclophosphamide for scleroderma lung disease: a systematic review and meta-analysis.
 雑誌        Rheumatol Int 32:2431-44 (2012)
 DOI:10.1007/s00296-011-1967-y
 PMID:25475597 (drug)
 著者        Carlson DA, Hinchcliff M, Pandolfino JE
 タイトル      Advances in the evaluation and management of esophageal disease of systemic sclerosis.
 雑誌        Curr Rheumatol Rep 17:475 (2015)
 DOI:10.1007/s11926-014-0475-y
 PMID:24387049 (drug)
 著者        Murdaca G, Spano F, Puppo F
 タイトル      Current therapies for the treatment of systemic sclerosis-related pulmonary arterial hypertension: efficacy and safety.
 雑誌        Expert Opin Drug Saf 13:295-305 (2014)
 DOI:10.1517/14740338.2014.872238
 PMID:21061100 (drug)
 著者        Bussone G, Berezne A, Pestre V, Guillevin L, Mouthon L
 タイトル      The scleroderma kidney: progress in risk factors, therapy, and prevention.
 雑誌        Curr Rheumatol Rep 13:37-43 (2011)
 DOI:10.1007/s11926-010-0145-7
 PMID:21184655 (drug)
 著者        Shetty N, Derk CT
 タイトル      Endothelin receptor antagonists as disease modifiers in systemic sclerosis.
 雑誌        Inflamm Allergy Drug Targets 10:19-26 (2011)
 DOI:10.2174/187152811794352088","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01492"">H01492</a>",全身性強皮症,"Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DPA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3113"">3113</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DPB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3115"">3115</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 STAT4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6775"">6775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11222"">K11222</a>]
 IRF5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3663"">3663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09446"">K09446</a>]
 CD247 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:919"">919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06453"">K06453</a>]
 PTPN22 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26191"">26191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18024"">K18024</a>]
 BANK1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55024"">55024</a>]
 TNFAIP3 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7128"">7128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11859"">K11859</a>]
 TNIP1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10318"">10318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23829"">K23829</a>]
 TNFSF4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7292"">7292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05469"">K05469</a>]
 IL-1A (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3552"">3552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04383"">K04383</a>]
 IL-1B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3553"">3553</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04519"">K04519</a>]
 IL-1R1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3554"">3554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04386"">K04386</a>]
 CCR6 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1235"">1235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04181"">K04181</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ボセンタン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01227"">D01227</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]",CREST syndrome is the limited cutaneous form of systemic sclerosis.,"ICD-11: 4A42
 ICD-10: M34
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012595"">D012595</a>
 OMIM: <a href=""https://www.omim.org/entry/181750"">181750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23541012"">23541012</a>
 著者        Shah AA, Wigley FM
 タイトル      My approach to the treatment of scleroderma.
 雑誌        Mayo Clin Proc 88:377-93 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.mayocp.2013.01.018"">10.1016/j.mayocp.2013.01.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20175839"">20175839</a> (marker)
 著者        Hamaguchi Y
 タイトル      Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis.
 雑誌        J Dermatol 37:42-53 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1346-8138.2009.00762.x"">10.1111/j.1346-8138.2009.00762.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25777745"">25777745</a>
 著者        Korman BD, Criswell LA
 タイトル      Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.
 雑誌        Curr Rheumatol Rep 17:21 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11926-014-0484-x"">10.1007/s11926-014-0484-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26826434"">26826434</a>
 著者        Murdaca G, Contatore M, Gulli R, Mandich P, Puppo F
 タイトル      Genetic factors and systemic sclerosis.
 雑誌        Autoimmun Rev 15:427-32 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2016.01.016"">10.1016/j.autrev.2016.01.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19758208"">19758208</a> (env_factor)
 著者        Arnson Y, Amital H, Guiducci S, Matucci-Cerinic M, Valentini G, Barzilai O, Maya R, Shoenfeld Y
 タイトル      The role of infections in the immunopathogensis of systemic sclerosis--evidence from serological studies.
 雑誌        Ann N Y Acad Sci 1173:627-32 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2009.04808.x"">10.1111/j.1749-6632.2009.04808.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21691743"">21691743</a> (drug)
 著者        Poormoghim H, Moradi Lakeh M, Mohammadipour M, Sodagari F, Toofaninjed N
 タイトル      Cyclophosphamide for scleroderma lung disease: a systematic review and meta-analysis.
 雑誌        Rheumatol Int 32:2431-44 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00296-011-1967-y"">10.1007/s00296-011-1967-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25475597"">25475597</a> (drug)
 著者        Carlson DA, Hinchcliff M, Pandolfino JE
 タイトル      Advances in the evaluation and management of esophageal disease of systemic sclerosis.
 雑誌        Curr Rheumatol Rep 17:475 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11926-014-0475-y"">10.1007/s11926-014-0475-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24387049"">24387049</a> (drug)
 著者        Murdaca G, Spano F, Puppo F
 タイトル      Current therapies for the treatment of systemic sclerosis-related pulmonary arterial hypertension: efficacy and safety.
 雑誌        Expert Opin Drug Saf 13:295-305 (2014)
 DOI:<a href=""https://doi.org/10.1517/14740338.2014.872238"">10.1517/14740338.2014.872238</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21061100"">21061100</a> (drug)
 著者        Bussone G, Berezne A, Pestre V, Guillevin L, Mouthon L
 タイトル      The scleroderma kidney: progress in risk factors, therapy, and prevention.
 雑誌        Curr Rheumatol Rep 13:37-43 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11926-010-0145-7"">10.1007/s11926-010-0145-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21184655"">21184655</a> (drug)
 著者        Shetty N, Derk CT
 タイトル      Endothelin receptor antagonists as disease modifiers in systemic sclerosis.
 雑誌        Inflamm Allergy Drug Targets 10:19-26 (2011)
 DOI:<a href=""https://doi.org/10.2174/187152811794352088"">10.2174/187152811794352088</a>"
H01493,"限局性強皮症;
 モルフィア",,,"Localized scleroderma, also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. It is generally differentiated from systemic scleroderma by the lack of Raynaud's phenomenon and visceral involvements. Localized scleroderma is classified into plaque morphea, generalized morphea, and linear scleroderma subtypes according to the clinical presentation and depth of tissue involvement. Localized scleroderma generally appears at any age, and onset at 20-50 years old is common, with the exception of the linear type, which often develops in childhood. Extracutaneous manifestations in morphea are not rare. The most common extracutaneous manifestations are arthralgia and myalgia. Neurologic manifestations and ocular complications are the most common in those children with head and neck involvement.",皮膚疾患,,,Borrelia burgdorferi [GN:bbu],,,"トリアムシノロンアセトニド [DR:D00983]
 メチルプレドニゾロン酢酸エステル [DR:D00979]",,"ICD-11: EB61
 ICD-10: L94.0
 MeSH: D012594","PMID:26321403
 著者        Gorkiewicz-Petkow A, Kalinska-Bienias A
 タイトル      Systemic involvement in localized scleroderma/morphea.
 雑誌        Clin Dermatol 33:556-62 (2015)
 DOI:10.1016/j.clindermatol.2015.05.009
 PMID:25582037
 著者        Toki S, Motegi S, Yamada K, Uchiyama A, Kanai S, Yamanaka M, Ishikawa O
 タイトル      Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.
 雑誌        J Dermatol 42:283-7 (2015)
 DOI:10.1111/1346-8138.12775","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01493"">H01493</a>","限局性強皮症;
 モルフィア","Localized scleroderma, also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. It is generally differentiated from systemic scleroderma by the lack of Raynaud's phenomenon and visceral involvements. Localized scleroderma is classified into plaque morphea, generalized morphea, and linear scleroderma subtypes according to the clinical presentation and depth of tissue involvement. Localized scleroderma generally appears at any age, and onset at 20-50 years old is common, with the exception of the linear type, which often develops in childhood. Extracutaneous manifestations in morphea are not rare. The most common extracutaneous manifestations are arthralgia and myalgia. Neurologic manifestations and ocular complications are the most common in those children with head and neck involvement.",,,"Borrelia burgdorferi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bbu"">bbu</a>]",,,"トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]",,"ICD-11: EB61
 ICD-10: L94.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012594"">D012594</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26321403"">26321403</a>
 著者        Gorkiewicz-Petkow A, Kalinska-Bienias A
 タイトル      Systemic involvement in localized scleroderma/morphea.
 雑誌        Clin Dermatol 33:556-62 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2015.05.009"">10.1016/j.clindermatol.2015.05.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25582037"">25582037</a>
 著者        Toki S, Motegi S, Yamada K, Uchiyama A, Kanai S, Yamanaka M, Ishikawa O
 タイトル      Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.
 雑誌        J Dermatol 42:283-7 (2015)
 DOI:<a href=""https://doi.org/10.1111/1346-8138.12775"">10.1111/1346-8138.12775</a>"
H01494,"脊椎骨端骨幹端異形成-関節弛緩
 下位グループ    Beighton 型脊椎骨端骨幹端異形成
 Leptodactylic 又は Hall 型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:H02187]",,,"Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic or Hall type). SEMDJL1 is caused by mutation in the B3GALT6 gene. The individuals with SEMDJL1 show the characteristic vertebral abnormalities, ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals with SEMDJL2 was identified mutations in KIF22 as the cause of this disease. Its characteristic manifestation includes short stature, midface hypoplasia, generalized ligamentous laxity causing mild kyphoscoliosis and progressive genu valgum.",先天奇形,,"(SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
 (SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
 (SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C562968
 OMIM: 271640 603546 618395","PMID:23664117
 著者        Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
 タイトル      Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
 雑誌        Am J Hum Genet 92:927-34 (2013)
 DOI:10.1016/j.ajhg.2013.04.003
 PMID:12567412
 著者        Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
 タイトル      Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
 雑誌        Am J Med Genet A 117A:147-53 (2003)
 DOI:10.1002/ajmg.a.10927
 PMID:22152677
 著者        Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ
 タイトル      Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
 雑誌        Am J Hum Genet 89:760-6 (2011)
 DOI:10.1016/j.ajhg.2011.10.015
 PMID:30284759
 著者        Campos-Xavier B, Rogers RC, Niel-Butschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A
 タイトル      Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
 雑誌        Am J Med Genet A 176:2934-2935 (2018)
 DOI:10.1002/ajmg.a.40631
 PMID:26669664
 著者        Girisha KM, Kortum F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K
 タイトル      A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
 雑誌        Eur J Hum Genet 24:1206-10 (2016)
 DOI:10.1038/ejhg.2015.261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01494"">H01494</a>","脊椎骨端骨幹端異形成-関節弛緩
 下位グループ    Beighton 型脊椎骨端骨幹端異形成
 Leptodactylic 又は Hall 型脊椎骨端骨幹端異形成
 上位グループ    脊椎骨端骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02187"">H02187</a>]","Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic or Hall type). SEMDJL1 is caused by mutation in the B3GALT6 gene. The individuals with SEMDJL1 show the characteristic vertebral abnormalities, ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals with SEMDJL2 was identified mutations in KIF22 as the cause of this disease. Its characteristic manifestation includes short stature, midface hypoplasia, generalized ligamentous laxity causing mild kyphoscoliosis and progressive genu valgum.",,"(SEMDJL1) B3GALT6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126792"">126792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00734"">K00734</a>]
 (SEMDJL2) KIF22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3835"">3835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10403"">K10403</a>]
 (SEMDJL3) EXOC6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23233"">23233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19985"">K19985</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562968"">C562968</a>
 OMIM: <a href=""https://www.omim.org/entry/271640"">271640</a> <a href=""https://www.omim.org/entry/603546"">603546</a> <a href=""https://www.omim.org/entry/618395"">618395</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23664117"">23664117</a>
 著者        Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
 タイトル      Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
 雑誌        Am J Hum Genet 92:927-34 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.003"">10.1016/j.ajhg.2013.04.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12567412"">12567412</a>
 著者        Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
 タイトル      Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
 雑誌        Am J Med Genet A 117A:147-53 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10927"">10.1002/ajmg.a.10927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22152677"">22152677</a>
 著者        Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ
 タイトル      Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
 雑誌        Am J Hum Genet 89:760-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.015"">10.1016/j.ajhg.2011.10.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30284759"">30284759</a>
 著者        Campos-Xavier B, Rogers RC, Niel-Butschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A
 タイトル      Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
 雑誌        Am J Med Genet A 176:2934-2935 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.40631"">10.1002/ajmg.a.40631</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26669664"">26669664</a>
 著者        Girisha KM, Kortum F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K
 タイトル      A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
 雑誌        Eur J Hum Genet 24:1206-10 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.261"">10.1038/ejhg.2015.261</a>"
H01495,メニエール病,,,"Meniere disease is an inner ear disorder characterized by episodic vertigo attacks, sensorineural hearing loss, tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus. Although the familial clustering and the geographical and racial differences in incidence suggest a certain role for genetic factors in the development of Meniere disease, no convincing evidence for an association with any gene exists, at present.",神経系疾患,,,,,,"ペルフェナジン [DR:D00503]
 ペルフェナジンマレイン酸塩 [DR:D02037]
 ペルフェナジンフェンジゾ酸塩 [DR:D04038]
 塩酸ペルフェナジン [DR:D04965]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ジメンヒドリナート [DR:D00520]
 ベタヒスチンメシル酸塩 [DR:D01592]
 ジフェンヒドラミン塩酸塩・ジプロフィリン [DR:D04259]
 ジフェンヒドラミンサリチル酸塩・ジプロフィリン [DR:D04261]
 アセタゾラミド [DR:D00218]
 アセタゾラミドナトリウム [DR:D01196]
 イソソルビド [DR:D00347]
 炭酸水素ナトリウム [DR:D01203]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 カリジノゲナーゼ [DR:D03330]
 ニコチン酸アミド [DR:D00036]
 ニコチン酸 [DR:D00049]
 アデノシン三リン酸二ナトリウム水和物 [DR:D02300]",,"ICD-11: AB31.0
 ICD-10: H81.0
 MeSH: D008575
 OMIM: 156000","PMID:25609993
 著者        Chiarella G, Petrolo C, Cassandro E
 タイトル      The genetics of Meniere's disease.
 雑誌        Appl Clin Genet 8:9-17 (2015)
 DOI:10.2147/TACG.S59024
 PMID:26932948 (drug)
 著者        Crowson MG, Patki A, Tucci DL
 タイトル      A Systematic Review of Diuretics in the Medical Management of Meniere's Disease.
 雑誌        Otolaryngol Head Neck Surg 154:824-34 (2016)
 DOI:10.1177/0194599816630733
 PMID:26810620 (drug)
 著者        Seyed Tootoonchi SJ, Ghiasi S, Shadara P, Samani SM, Fouladi DF
 タイトル      Hearing function after betahistine therapy in patients with Meniere's disease.
 雑誌        Braz J Otorhinolaryngol 82:500-6 (2016)
 DOI:10.1016/j.bjorl.2015.08.021
 PMID:15564826 (drug)
 著者        Cohen-Kerem R, Kisilevsky V, Einarson TR, Kozer E, Koren G, Rutka JA
 タイトル      Intratympanic gentamicin for Meniere's disease: a meta-analysis.
 雑誌        Laryngoscope 114:2085-91 (2004)
 DOI:10.1097/01.mlg.0000149439.43478.24
 PMID:16699291 (marker)
 著者        Kakigi A, Takeda T, Sawada S, Taguchi D
 タイトル      Antidiuretic hormone and osmolality in isosorbide therapy and glycerol test.
 雑誌        ORL J Otorhinolaryngol Relat Spec 68:279-82 (2006)
 DOI:10.1159/000093299
 PMID:2635549 (marker)
 著者        Kobayashi H, Ito M, Mizukoshi K, Watanabe Y, Ohashi N, Shojaku H
 タイトル      The furosemide VOR test for Meniere's disease. A preliminary report.
 雑誌        Acta Otolaryngol Suppl 468:81-5 (1989)
 DOI:10.3109/00016488909139026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01495"">H01495</a>",メニエール病,"Meniere disease is an inner ear disorder characterized by episodic vertigo attacks, sensorineural hearing loss, tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus. Although the familial clustering and the geographical and racial differences in incidence suggest a certain role for genetic factors in the development of Meniere disease, no convincing evidence for an association with any gene exists, at present.",,,,,,"ペルフェナジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00503"">D00503</a>]
 ペルフェナジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02037"">D02037</a>]
 ペルフェナジンフェンジゾ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04038"">D04038</a>]
 塩酸ペルフェナジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04965"">D04965</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ジメンヒドリナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00520"">D00520</a>]
 ベタヒスチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01592"">D01592</a>]
 ジフェンヒドラミン塩酸塩・ジプロフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04259"">D04259</a>]
 ジフェンヒドラミンサリチル酸塩・ジプロフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04261"">D04261</a>]
 アセタゾラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00218"">D00218</a>]
 アセタゾラミドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01196"">D01196</a>]
 イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00347"">D00347</a>]
 炭酸水素ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01203"">D01203</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 カリジノゲナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03330"">D03330</a>]
 ニコチン酸アミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00036"">D00036</a>]
 ニコチン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00049"">D00049</a>]
 アデノシン三リン酸二ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02300"">D02300</a>]",,"ICD-11: AB31.0
 ICD-10: H81.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008575"">D008575</a>
 OMIM: <a href=""https://www.omim.org/entry/156000"">156000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25609993"">25609993</a>
 著者        Chiarella G, Petrolo C, Cassandro E
 タイトル      The genetics of Meniere's disease.
 雑誌        Appl Clin Genet 8:9-17 (2015)
 DOI:<a href=""https://doi.org/10.2147/TACG.S59024"">10.2147/TACG.S59024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26932948"">26932948</a> (drug)
 著者        Crowson MG, Patki A, Tucci DL
 タイトル      A Systematic Review of Diuretics in the Medical Management of Meniere's Disease.
 雑誌        Otolaryngol Head Neck Surg 154:824-34 (2016)
 DOI:<a href=""https://doi.org/10.1177/0194599816630733"">10.1177/0194599816630733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26810620"">26810620</a> (drug)
 著者        Seyed Tootoonchi SJ, Ghiasi S, Shadara P, Samani SM, Fouladi DF
 タイトル      Hearing function after betahistine therapy in patients with Meniere's disease.
 雑誌        Braz J Otorhinolaryngol 82:500-6 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.bjorl.2015.08.021"">10.1016/j.bjorl.2015.08.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15564826"">15564826</a> (drug)
 著者        Cohen-Kerem R, Kisilevsky V, Einarson TR, Kozer E, Koren G, Rutka JA
 タイトル      Intratympanic gentamicin for Meniere's disease: a meta-analysis.
 雑誌        Laryngoscope 114:2085-91 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.mlg.0000149439.43478.24"">10.1097/01.mlg.0000149439.43478.24</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16699291"">16699291</a> (marker)
 著者        Kakigi A, Takeda T, Sawada S, Taguchi D
 タイトル      Antidiuretic hormone and osmolality in isosorbide therapy and glycerol test.
 雑誌        ORL J Otorhinolaryngol Relat Spec 68:279-82 (2006)
 DOI:<a href=""https://doi.org/10.1159/000093299"">10.1159/000093299</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2635549"">2635549</a> (marker)
 著者        Kobayashi H, Ito M, Mizukoshi K, Watanabe Y, Ohashi N, Shojaku H
 タイトル      The furosemide VOR test for Meniere's disease. A preliminary report.
 雑誌        Acta Otolaryngol Suppl 468:81-5 (1989)
 DOI:<a href=""https://doi.org/10.3109/00016488909139026"">10.3109/00016488909139026</a>"
H01496,椎体眼症候群,,,"Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly.",先天奇形,,XYLT2 [HSA:64132] [KO:K00771],,,,,,"ICD-11: LD24.KY
 ICD-10: Q87.5
 MeSH: C565285
 OMIM: 605822","PMID:12719077
 著者        Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H
 タイトル      Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
 雑誌        Am J Ophthalmol 135:681-7 (2003)
 DOI:10.1016/S0002-9394(02)02155-4
 PMID:26987875
 著者        Taylan F, Costantini A, Coles N, Pekkinen M, Heon E, Siklar Z, Berberoglu M, Kampe A, Kiykim E, Grigelioniene G, Tuysuz B, Makitie O
 タイトル      Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
 雑誌        J Bone Miner Res 31:1577-85 (2016)
 DOI:10.1002/jbmr.2834
 PMID:26027496
 著者        Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME
 タイトル      Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
 雑誌        Am J Hum Genet 96:971-8 (2015)
 DOI:10.1016/j.ajhg.2015.04.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01496"">H01496</a>",椎体眼症候群,"Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly.",,"XYLT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64132"">64132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00771"">K00771</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565285"">C565285</a>
 OMIM: <a href=""https://www.omim.org/entry/605822"">605822</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12719077"">12719077</a>
 著者        Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H
 タイトル      Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
 雑誌        Am J Ophthalmol 135:681-7 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0002-9394(02)02155-4"">10.1016/S0002-9394(02)02155-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26987875"">26987875</a>
 著者        Taylan F, Costantini A, Coles N, Pekkinen M, Heon E, Siklar Z, Berberoglu M, Kampe A, Kiykim E, Grigelioniene G, Tuysuz B, Makitie O
 タイトル      Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
 雑誌        J Bone Miner Res 31:1577-85 (2016)
 DOI:<a href=""https://doi.org/10.1002/jbmr.2834"">10.1002/jbmr.2834</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26027496"">26027496</a>
 著者        Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME
 タイトル      Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
 雑誌        Am J Hum Genet 96:971-8 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.04.017"">10.1016/j.ajhg.2015.04.017</a>"
H01497,軸前性短指症候群,,,"Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies.",先天性代謝異常症; 先天奇形,,CHSY1 [HSA:22856] [KO:K13499],,,,,,"ICD-11: LD26.6Y
 ICD-10: Q87.2
 MeSH: C536958
 OMIM: 605282","PMID:21129728
 著者        Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B
 タイトル      Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
 雑誌        Am J Hum Genet 87:757-67 (2010)
 DOI:10.1016/j.ajhg.2010.10.003
 PMID:24269551
 著者        Sher G, Naeem M
 タイトル      A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
 雑誌        Eur J Med Genet 57:21-4 (2014)
 DOI:10.1016/j.ejmg.2013.11.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01497"">H01497</a>",軸前性短指症候群,"Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies.",,"CHSY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22856"">22856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13499"">K13499</a>]",,,,,,"ICD-11: LD26.6Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536958"">C536958</a>
 OMIM: <a href=""https://www.omim.org/entry/605282"">605282</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21129728"">21129728</a>
 著者        Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B
 タイトル      Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
 雑誌        Am J Hum Genet 87:757-67 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.003"">10.1016/j.ajhg.2010.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24269551"">24269551</a>
 著者        Sher G, Naeem M
 タイトル      A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
 雑誌        Eur J Med Genet 57:21-4 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2013.11.001"">10.1016/j.ejmg.2013.11.001</a>"
H01498,"多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形;
 Larsen 様症候群
 上位グループ    ラーセン症候群 [DS:H02048]",,,"Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.",先天性代謝異常症,,B3GAT3 [HSA:26229] [KO:K10158],,,,,,"ICD-11: LD24.E
 ICD-10: Q74.8
 MeSH: C563914
 OMIM: 245600","PMID:21763480
 著者        Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K
 タイトル      Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
 雑誌        Am J Hum Genet 89:15-27 (2011)
 DOI:10.1016/j.ajhg.2011.05.021
 PMID:24668659
 著者        von Oettingen JE, Tan WH, Dauber A
 タイトル      Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
 雑誌        Am J Med Genet A 164A:1580-6 (2014)
 DOI:10.1002/ajmg.a.36487","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01498"">H01498</a>","多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形;
 Larsen 様症候群
 上位グループ    ラーセン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02048"">H02048</a>]","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.",,"B3GAT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26229"">26229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10158"">K10158</a>]",,,,,,"ICD-11: LD24.E
 ICD-10: Q74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563914"">C563914</a>
 OMIM: <a href=""https://www.omim.org/entry/245600"">245600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21763480"">21763480</a>
 著者        Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K
 タイトル      Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
 雑誌        Am J Hum Genet 89:15-27 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.021"">10.1016/j.ajhg.2011.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24668659"">24668659</a>
 著者        von Oettingen JE, Tan WH, Dauber A
 タイトル      Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
 雑誌        Am J Med Genet A 164A:1580-6 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36487"">10.1002/ajmg.a.36487</a>"
H01499,スポロトリコーシス,,,"Sporotrichosis is an endemic mycosis in tropical and subtropical areas caused by Sporothrix schenckii which is a common saprophyte of soil, decaying wood, hay and sphagnum moss. S. schenckii usually causes a mixed suppurative and granulomatous inflammatory reaction in the dermis and subcutaneous tissue, frequently accompanied by microabscess and fibrosis. The most common symptom is cutaneous disease, which is classified into fixed and lymphocutaneous forms. Osteoarticular, pulmonary, mucosal, disseminated and systemic infections are less common and usually occur in immunosuppressed individuals.",感染症,,,Sporothrix schenckii [GN:ssck],,,"テルビナフィン塩酸塩 [DR:D02219]
 イトラコナゾール [DR:D00350]",,"ICD-11: 1F2J
 ICD-10: B42
 MeSH: D013174
 MedlinePlus: 001338","PMID:25526781
 著者        Chakrabarti A, Bonifaz A, Gutierrez-Galhardo MC, Mochizuki T, Li S
 タイトル      Global epidemiology of sporotrichosis.
 雑誌        Med Mycol 53:3-14 (2015)
 DOI:10.1093/mmy/myu062
 PMID:25614735
 著者        Mahajan VK
 タイトル      Sporotrichosis: an overview and therapeutic options.
 雑誌        Dermatol Res Pract 2014:272376 (2014)
 DOI:10.1155/2014/272376
 PMID:22682194
 著者        Vasquez-del-Mercado E, Arenas R, Padilla-Desgarenes C
 タイトル      Sporotrichosis.
 雑誌        Clin Dermatol 30:437-43 (2012)
 DOI:10.1016/j.clindermatol.2011.09.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01499"">H01499</a>",スポロトリコーシス,"Sporotrichosis is an endemic mycosis in tropical and subtropical areas caused by Sporothrix schenckii which is a common saprophyte of soil, decaying wood, hay and sphagnum moss. S. schenckii usually causes a mixed suppurative and granulomatous inflammatory reaction in the dermis and subcutaneous tissue, frequently accompanied by microabscess and fibrosis. The most common symptom is cutaneous disease, which is classified into fixed and lymphocutaneous forms. Osteoarticular, pulmonary, mucosal, disseminated and systemic infections are less common and usually occur in immunosuppressed individuals.",,,"Sporothrix schenckii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ssck"">ssck</a>]",,,"テルビナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02219"">D02219</a>]
 イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F2J
 ICD-10: B42
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013174"">D013174</a>
 MedlinePlus: 001338","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25526781"">25526781</a>
 著者        Chakrabarti A, Bonifaz A, Gutierrez-Galhardo MC, Mochizuki T, Li S
 タイトル      Global epidemiology of sporotrichosis.
 雑誌        Med Mycol 53:3-14 (2015)
 DOI:<a href=""https://doi.org/10.1093/mmy/myu062"">10.1093/mmy/myu062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25614735"">25614735</a>
 著者        Mahajan VK
 タイトル      Sporotrichosis: an overview and therapeutic options.
 雑誌        Dermatol Res Pract 2014:272376 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/272376"">10.1155/2014/272376</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22682194"">22682194</a>
 著者        Vasquez-del-Mercado E, Arenas R, Padilla-Desgarenes C
 タイトル      Sporotrichosis.
 雑誌        Clin Dermatol 30:437-43 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2011.09.017"">10.1016/j.clindermatol.2011.09.017</a>"
H01500,ループス腎炎,,,"Lupus nephritis is a severe organ manifestation of systemic lupus erythematosus (SLE) that can affect up to 70% of the SLE population. In childhood SLE, nephritis is present in up to 90% of the cases. This disease is one of the most serious complications of SLE, with a high morbidity and mortality. Clinical manifestations of active lupus nephritis include proteinuria, active urinary sediments, and progressive renal dysfunction. It is initiated by the deposition of immunoglobulins and formation of immune complexes in the glomerular and tubulo-interstitial compartments of the kidney. There is emerging evidence that the interaction between anti-dsDNA antibodies and kidney cells, notably mesangial cells, proximal renal tubular epithelial cells, and glomerular endothelial cells plays a significant role in disease pathogenesis.",免疫系疾患; 泌尿器系疾患,,,,,,"タクロリムス水和物 [DR:D00107]
 ミコフェノール酸モフェチル [DR:D00752]
 ミゾリビン [DR:D01392]","See also H00080 Systemic lupus erythematosus.
 Lupus nephritis is staged according to the classification revised by the International Society of Nephrology (ISN) and the Renal Pathology Society (RPS) in 2003.","ICD-11: 4A40.0Y
 ICD-10: M32.1 N08.5
 MeSH: D008181
 OMIM: 607965 607966 607967","PMID:14747370
 著者        Weening JJ, D'Agati VD, Schwartz MM, Seshan SV, Alpers CE, Appel GB, Balow JE, Bruijn JA, Cook T, Ferrario F, Fogo AB, Ginzler EM, Hebert L, Hill G, Hill P, Jennette JC, Kong NC, Lesavre P, Lockshin M, Looi LM, Makino H, Moura LA, Nagata M
 タイトル      The classification of glomerulonephritis in systemic lupus erythematosus revisited.
 雑誌        J Am Soc Nephrol 15:241-50 (2004)
 DOI:10.1097/01.ASN.0000108969.21691.5D
 PMID:22761629 (marker)
 著者        Yung S, Chan TM
 タイトル      Autoantibodies and resident renal cells in the pathogenesis of lupus nephritis: getting to know the unknown.
 雑誌        Clin Dev Immunol 2012:139365 (2012)
 DOI:10.1155/2012/139365
 PMID:12215904
 著者        Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB
 タイトル      The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3).
 雑誌        Genes Immun 3 Suppl 1:S57-62 (2002)
 DOI:10.1038/sj.gene.6363901
 PMID:22570338 (drug)
 著者        Wang S, Li X, Qu L, Wang R, Chen Y, Li Q, He X, Zhang X, Wang H, Wu J, Xu Y, Chen J
 タイトル      Tacrolimus versus cyclophosphamide as treatment for diffuse proliferative or membranous lupus nephritis: a non-randomized prospective cohort study.
 雑誌        Lupus 21:1025-35 (2012)
 DOI:10.1177/0961203312448105
 PMID:19479701 (drug)
 著者        Pons-Estel GJ, Alarcon GS, McGwin G Jr, Danila MI, Zhang J, Bastian HM, Reveille JD, Vila LM
 タイトル      Protective effect of hydroxychloroquine on renal damage in patients with lupus nephritis: LXV, data from a multiethnic US cohort.
 雑誌        Arthritis Rheum 61:830-9 (2009)
 DOI:10.1002/art.24538","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01500"">H01500</a>",ループス腎炎,"Lupus nephritis is a severe organ manifestation of systemic lupus erythematosus (SLE) that can affect up to 70% of the SLE population. In childhood SLE, nephritis is present in up to 90% of the cases. This disease is one of the most serious complications of SLE, with a high morbidity and mortality. Clinical manifestations of active lupus nephritis include proteinuria, active urinary sediments, and progressive renal dysfunction. It is initiated by the deposition of immunoglobulins and formation of immune complexes in the glomerular and tubulo-interstitial compartments of the kidney. There is emerging evidence that the interaction between anti-dsDNA antibodies and kidney cells, notably mesangial cells, proximal renal tubular epithelial cells, and glomerular endothelial cells plays a significant role in disease pathogenesis.",,,,,,"タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 ミコフェノール酸モフェチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00752"">D00752</a>]
 ミゾリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01392"">D01392</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080"">H00080</a> Systemic lupus erythematosus.
 Lupus nephritis is staged according to the classification revised by the International Society of Nephrology (ISN) and the Renal Pathology Society (RPS) in 2003.","ICD-11: 4A40.0Y
 ICD-10: M32.1 N08.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008181"">D008181</a>
 OMIM: <a href=""https://www.omim.org/entry/607965"">607965</a> <a href=""https://www.omim.org/entry/607966"">607966</a> <a href=""https://www.omim.org/entry/607967"">607967</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14747370"">14747370</a>
 著者        Weening JJ, D'Agati VD, Schwartz MM, Seshan SV, Alpers CE, Appel GB, Balow JE, Bruijn JA, Cook T, Ferrario F, Fogo AB, Ginzler EM, Hebert L, Hill G, Hill P, Jennette JC, Kong NC, Lesavre P, Lockshin M, Looi LM, Makino H, Moura LA, Nagata M
 タイトル      The classification of glomerulonephritis in systemic lupus erythematosus revisited.
 雑誌        J Am Soc Nephrol 15:241-50 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.ASN.0000108969.21691.5D"">10.1097/01.ASN.0000108969.21691.5D</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22761629"">22761629</a> (marker)
 著者        Yung S, Chan TM
 タイトル      Autoantibodies and resident renal cells in the pathogenesis of lupus nephritis: getting to know the unknown.
 雑誌        Clin Dev Immunol 2012:139365 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/139365"">10.1155/2012/139365</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12215904"">12215904</a>
 著者        Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB
 タイトル      The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3).
 雑誌        Genes Immun 3 Suppl 1:S57-62 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.gene.6363901"">10.1038/sj.gene.6363901</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22570338"">22570338</a> (drug)
 著者        Wang S, Li X, Qu L, Wang R, Chen Y, Li Q, He X, Zhang X, Wang H, Wu J, Xu Y, Chen J
 タイトル      Tacrolimus versus cyclophosphamide as treatment for diffuse proliferative or membranous lupus nephritis: a non-randomized prospective cohort study.
 雑誌        Lupus 21:1025-35 (2012)
 DOI:<a href=""https://doi.org/10.1177/0961203312448105"">10.1177/0961203312448105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19479701"">19479701</a> (drug)
 著者        Pons-Estel GJ, Alarcon GS, McGwin G Jr, Danila MI, Zhang J, Bastian HM, Reveille JD, Vila LM
 タイトル      Protective effect of hydroxychloroquine on renal damage in patients with lupus nephritis: LXV, data from a multiethnic US cohort.
 雑誌        Arthritis Rheum 61:830-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/art.24538"">10.1002/art.24538</a>"
H01501,ブラストミセス症,,,"Blastomycosis is a fungal infection caused by the organism Blastomyces dermatitidis, is a dimorphic fungus that grows as a filamentous mold in the environment and as budding yeast in human tissue. Blastomycosis is primarily a pulmonary infection, but dissemination occurs frequently and leads to involvement of skin, bones and joints, the genitourinary tract, and other areas.",感染症,,,"Blastomyces dermatitidis
 Blastomyces gilchristii [GN:bgh]",,,イトラコナゾール [DR:D00350],,"ICD-11: 1F22
 ICD-10: B40
 MeSH: D001759
 MedlinePlus: 000102","PMID:26398538
 著者        Smith JA, Gauthier G
 タイトル      New Developments in Blastomycosis.
 雑誌        Semin Respir Crit Care Med 36:715-28 (2015)
 DOI:10.1055/s-0035-1562898
 PMID:15636375
 著者        Baumgardner DJ, Halsmer SE, Egan G
 タイトル      Symptoms of pulmonary blastomycosis: northern Wisconsin, United States.
 雑誌        Wilderness Environ Med 15:250-6 (2004)
 DOI:10.1580/1080-6032(2004)015[0250:SOPBNW]2.0.CO;2
 PMID:20463245
 著者        Smith JA, Kauffman CA
 タイトル      Blastomycosis.
 雑誌        Proc Am Thorac Soc 7:173-80 (2010)
 DOI:10.1513/pats.200906-040AL","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01501"">H01501</a>",ブラストミセス症,"Blastomycosis is a fungal infection caused by the organism Blastomyces dermatitidis, is a dimorphic fungus that grows as a filamentous mold in the environment and as budding yeast in human tissue. Blastomycosis is primarily a pulmonary infection, but dissemination occurs frequently and leads to involvement of skin, bones and joints, the genitourinary tract, and other areas.",,,"Blastomyces dermatitidis
 Blastomyces gilchristii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bgh"">bgh</a>]",,,"イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F22
 ICD-10: B40
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001759"">D001759</a>
 MedlinePlus: 000102","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26398538"">26398538</a>
 著者        Smith JA, Gauthier G
 タイトル      New Developments in Blastomycosis.
 雑誌        Semin Respir Crit Care Med 36:715-28 (2015)
 DOI:<a href=""https://doi.org/10.1055/s-0035-1562898"">10.1055/s-0035-1562898</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15636375"">15636375</a>
 著者        Baumgardner DJ, Halsmer SE, Egan G
 タイトル      Symptoms of pulmonary blastomycosis: northern Wisconsin, United States.
 雑誌        Wilderness Environ Med 15:250-6 (2004)
 DOI:<a href=""https://doi.org/10.1580/1080-6032(2004)015[0250:"">10.1580/1080-6032(2004)015[0250:</a><a href=""https://doi.org/SOPBNW]2.0.CO;2"">SOPBNW]2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20463245"">20463245</a>
 著者        Smith JA, Kauffman CA
 タイトル      Blastomycosis.
 雑誌        Proc Am Thorac Soc 7:173-80 (2010)
 DOI:<a href=""https://doi.org/10.1513/pats.200906-040AL"">10.1513/pats.200906-040AL</a>"
H01502,シェーグレン症候群,,,"Sjogren Syndrome (SS) is a chronic inflammatory systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands leading to sicca symptoms of the eyes and mouth. Several systemic and extraglandular manifestations can develop, including fatigue, arthritis, and involvement of organs such as the skin, lungs, and kidneys. SS may occur as a primary disorder or in association with other systemic autoimmune diseases, traditionally defined as secondary SS, such as rheumatoid arthritis, and systemic lupus erythematosus. Salivary secretions from these patients exhibit elevated levels of antibodies and cytokines. This is accompanied by a reduction in oral phosphate levels and xerostomia due to reduced salivary flow, which can lead to infections, progressive caries, dysphagia and oral pain. Current tests for SS include sialometry, salivary scintigraphy, sialography, serological tests or minor salivary gland biopsies. Recently, salivary biomarkers of SS has been investigated. The etiology of SS is still unclear. Since there is a familial aggregation of primary SS, however, genetic factors have been suspected for a long time. Initially, HLA haplotypes were shown to be associated with primary SS. Recently, polymorphisms in the genes IRF5 and STAT4 have been convincingly identified and replicated in several studies as susceptibility factors.",免疫系疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 IRF5 (polymorphism) [HSA:3663] [KO:K09446]
 STAT4 (polymorphism) [HSA:6775] [KO:K11222]",,,,"ピロカルピン塩酸塩 [DR:D02200]
 精製ヒアルロン酸ナトリウム [DR:D03354]
 セビメリン塩酸塩水和物 [DR:D00661]
 リン酸二カリウム・塩化カリウム・塩化カルシウム水和物・塩化ナトリウム・塩化マグネシウム [DR:D04424]",,"ICD-11: 4A43.2
 ICD-10: M35.0
 MeSH: D012859
 OMIM: 270150","PMID:11000325
 著者        Stiller M, Golder W, Doring E, Biedermann T
 タイトル      Primary and secondary Sjogren's syndrome in children--a comparative study.
 雑誌        Clin Oral Investig 4:176-82 (2000)
 DOI:10.1007/s007840000040176.784
 PMID:26809028
 著者        van Nimwegen JF, Moerman RV, Sillevis Smitt N, Brouwer E, Bootsma H, Vissink A
 タイトル      Safety of treatments for primary Sjogren's syndrome.
 雑誌        Expert Opin Drug Saf 15:513-24 (2016)
 DOI:10.1517/14740338.2016.1146676
 PMID:21635716
 著者        Low HZ, Witte T
 タイトル      Aspects of innate immunity in Sjogren's syndrome.
 雑誌        Arthritis Res Ther 13:218 (2011)
 DOI:10.1186/ar3318
 PMID:26937373 (marker)
 著者        Javaid MA, Ahmed AS, Durand R, Tran SD
 タイトル      Saliva as a diagnostic tool for oral and systemic diseases.
 雑誌        J Oral Biol Craniofac Res 6:66-75 (2016)
 DOI:10.1016/j.jobcr.2015.08.006
 PMID:22117835 (marker)
 著者        Baldini C, Giusti L, Ciregia F, Da Valle Y, Giacomelli C, Donadio E, Sernissi F, Bazzichi L, Giannaccini G, Bombardieri S, Lucacchini A
 タイトル      Proteomic analysis of saliva: a unique tool to distinguish primary Sjogren's syndrome from secondary Sjogren's syndrome and other sicca syndromes.
 雑誌        Arthritis Res Ther 13:R194 (2011)
 DOI:10.1186/ar3523
 PMID:12038948 (drug)
 著者        Fife RS, Chase WF, Dore RK, Wiesenhutter CW, Lockhart PB, Tindall E, Suen JY
 タイトル      Cevimeline for the treatment of xerostomia in patients with Sjogren syndrome: a randomized trial.
 雑誌        Arch Intern Med 162:1293-300 (2002)
 DOI:10.1001/archinte.162.11.1293
 PMID:22870445 (drug)
 著者        Vitali C, Palombi G, Cataleta P
 タイトル      Treating Sjogren's Syndrome: Insights for the Clinician.
 雑誌        Ther Adv Musculoskelet Dis 2:155-66 (2010)
 DOI:10.1177/1759720X10363246","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01502"">H01502</a>",シェーグレン症候群,"Sjogren Syndrome (SS) is a chronic inflammatory systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands leading to sicca symptoms of the eyes and mouth. Several systemic and extraglandular manifestations can develop, including fatigue, arthritis, and involvement of organs such as the skin, lungs, and kidneys. SS may occur as a primary disorder or in association with other systemic autoimmune diseases, traditionally defined as secondary SS, such as rheumatoid arthritis, and systemic lupus erythematosus. Salivary secretions from these patients exhibit elevated levels of antibodies and cytokines. This is accompanied by a reduction in oral phosphate levels and xerostomia due to reduced salivary flow, which can lead to infections, progressive caries, dysphagia and oral pain. Current tests for SS include sialometry, salivary scintigraphy, sialography, serological tests or minor salivary gland biopsies. Recently, salivary biomarkers of SS has been investigated. The etiology of SS is still unclear. Since there is a familial aggregation of primary SS, however, genetic factors have been suspected for a long time. Initially, HLA haplotypes were shown to be associated with primary SS. Recently, polymorphisms in the genes IRF5 and STAT4 have been convincingly identified and replicated in several studies as susceptibility factors.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 IRF5 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3663"">3663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09446"">K09446</a>]
 STAT4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6775"">6775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11222"">K11222</a>]",,,,"ピロカルピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02200"">D02200</a>]
 精製ヒアルロン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03354"">D03354</a>]
 セビメリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00661"">D00661</a>]
 リン酸二カリウム・塩化カリウム・塩化カルシウム水和物・塩化ナトリウム・塩化マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04424"">D04424</a>]",,"ICD-11: 4A43.2
 ICD-10: M35.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012859"">D012859</a>
 OMIM: <a href=""https://www.omim.org/entry/270150"">270150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11000325"">11000325</a>
 著者        Stiller M, Golder W, Doring E, Biedermann T
 タイトル      Primary and secondary Sjogren's syndrome in children--a comparative study.
 雑誌        Clin Oral Investig 4:176-82 (2000)
 DOI:<a href=""https://doi.org/10.1007/s007840000040176.784"">10.1007/s007840000040176.784</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26809028"">26809028</a>
 著者        van Nimwegen JF, Moerman RV, Sillevis Smitt N, Brouwer E, Bootsma H, Vissink A
 タイトル      Safety of treatments for primary Sjogren's syndrome.
 雑誌        Expert Opin Drug Saf 15:513-24 (2016)
 DOI:<a href=""https://doi.org/10.1517/14740338.2016.1146676"">10.1517/14740338.2016.1146676</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21635716"">21635716</a>
 著者        Low HZ, Witte T
 タイトル      Aspects of innate immunity in Sjogren's syndrome.
 雑誌        Arthritis Res Ther 13:218 (2011)
 DOI:<a href=""https://doi.org/10.1186/ar3318"">10.1186/ar3318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26937373"">26937373</a> (marker)
 著者        Javaid MA, Ahmed AS, Durand R, Tran SD
 タイトル      Saliva as a diagnostic tool for oral and systemic diseases.
 雑誌        J Oral Biol Craniofac Res 6:66-75 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jobcr.2015.08.006"">10.1016/j.jobcr.2015.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22117835"">22117835</a> (marker)
 著者        Baldini C, Giusti L, Ciregia F, Da Valle Y, Giacomelli C, Donadio E, Sernissi F, Bazzichi L, Giannaccini G, Bombardieri S, Lucacchini A
 タイトル      Proteomic analysis of saliva: a unique tool to distinguish primary Sjogren's syndrome from secondary Sjogren's syndrome and other sicca syndromes.
 雑誌        Arthritis Res Ther 13:R194 (2011)
 DOI:<a href=""https://doi.org/10.1186/ar3523"">10.1186/ar3523</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12038948"">12038948</a> (drug)
 著者        Fife RS, Chase WF, Dore RK, Wiesenhutter CW, Lockhart PB, Tindall E, Suen JY
 タイトル      Cevimeline for the treatment of xerostomia in patients with Sjogren syndrome: a randomized trial.
 雑誌        Arch Intern Med 162:1293-300 (2002)
 DOI:<a href=""https://doi.org/10.1001/archinte.162.11.1293"">10.1001/archinte.162.11.1293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22870445"">22870445</a> (drug)
 著者        Vitali C, Palombi G, Cataleta P
 タイトル      Treating Sjogren's Syndrome: Insights for the Clinician.
 雑誌        Ther Adv Musculoskelet Dis 2:155-66 (2010)
 DOI:<a href=""https://doi.org/10.1177/1759720X10363246"">10.1177/1759720X10363246</a>"
H01503,"接合菌症
 下位グループ    エントモフトラ症 [DS:H02032]
 ムコール症 [DS:H02033]",,,"The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Mucormycosis can present as rhinocerebral, pulmonary, disseminated, cutaneous and gastrointestinal involvement. Genera from the order Entomophthorales cause a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",感染症,,,"Mucor racemosus
 Mucor circinelloides
 Mucor ramosissimus
 Mucor indicus
 Mucor hiemalis
 Rhizopus arrhizus
 Rhizopus rhizopodiformis
 Rhizopus azygosporus
 Rhizopus stolonifer
 Rhizopus schipperae
 Rhizopus microsporus
 Rhizomucor pusillus
 Absidia corymbifera
 Apophysomyces elegans
 Cunninghamella bertholletiae
 Saksenaea vasiformis
 Cokeromyces recurvatus
 Basidiobolus ranarum
 Conidiobolus coronatus
 Conidiobolus incongruus",,,,,"ICD-11: 1F2C 1F21 1F26
 ICD-10: B46
 MeSH: D020096
 MedlinePlus: 000649","PMID:14748801 (description, pathogen)
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:10.1111/j.1470-9465.2004.00843.x
 PMID:19466966
 著者        Pagano L, Valentini CG, Caira M, Fianchi L
 タイトル      ZYGOMYCOSIS: current approaches to management of patients with haematological malignancies.
 雑誌        Br J Haematol 146:597-606 (2009)
 DOI:10.1111/j.1365-2141.2009.07738.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01503"">H01503</a>","接合菌症
 下位グループ    エントモフトラ症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02032"">H02032</a>]
 ムコール症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02033"">H02033</a>]","The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Mucormycosis can present as rhinocerebral, pulmonary, disseminated, cutaneous and gastrointestinal involvement. Genera from the order Entomophthorales cause a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",,,"Mucor racemosus
 Mucor circinelloides
 Mucor ramosissimus
 Mucor indicus
 Mucor hiemalis
 Rhizopus arrhizus
 Rhizopus rhizopodiformis
 Rhizopus azygosporus
 Rhizopus stolonifer
 Rhizopus schipperae
 Rhizopus microsporus
 Rhizomucor pusillus
 Absidia corymbifera
 Apophysomyces elegans
 Cunninghamella bertholletiae
 Saksenaea vasiformis
 Cokeromyces recurvatus
 Basidiobolus ranarum
 Conidiobolus coronatus
 Conidiobolus incongruus",,,,,"ICD-11: 1F2C 1F21 1F26
 ICD-10: B46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020096"">D020096</a>
 MedlinePlus: 000649","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14748801"">14748801</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1470-9465.2004.00843.x"">10.1111/j.1470-9465.2004.00843.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19466966"">19466966</a>
 著者        Pagano L, Valentini CG, Caira M, Fianchi L
 タイトル      ZYGOMYCOSIS: current approaches to management of patients with haematological malignancies.
 雑誌        Br J Haematol 146:597-606 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2009.07738.x"">10.1111/j.1365-2141.2009.07738.x</a>"
H01504,"フォークト・小柳・原田病;
 ぶどう膜髄膜脳炎症候群",,,"Vogt-Koyanagi-Harada syndrome (VKHS), initially described as an uveomeningoencephalitic syndrome, is a rare systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear, meninges, skin and hair. This disease is characterized by panuveitis, often associated with neurologic and cutaneous manifestations, including headache, hearing loss, vitiligo, and poliosis. VKHS is more common in individuals of pigmented skin, such as Asians, Middle Easterners, Hispanics and Native Americans. Although the exact etiology of VKHS remains unclear, it has also been postulated that such an autoimmune response might be triggered by an infectious agent in a genetically susceptible individual. Several studies have demonstrated that HLA-DR4 is strongly associated with VKHD.",免疫系疾患; 神経系疾患,,"HLA-DRB1 [HSA:3123] [KO:K06752]
 HLA-DRB4 [HSA:3126] [KO:K06752]",,,,,,"ICD-11: ED63.3
 ICD-10: H20.8 H30.8
 MeSH: D014607","PMID:27008848
 著者        Lavezzo MM, Sakata VM, Morita C, Rodriguez EE, Abdallah SF, da Silva FT, Hirata CE, Yamamoto JH
 タイトル      Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes.
 雑誌        Orphanet J Rare Dis 11:29 (2016)
 DOI:10.1186/s13023-016-0412-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01504"">H01504</a>","フォークト・小柳・原田病;
 ぶどう膜髄膜脳炎症候群","Vogt-Koyanagi-Harada syndrome (VKHS), initially described as an uveomeningoencephalitic syndrome, is a rare systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear, meninges, skin and hair. This disease is characterized by panuveitis, often associated with neurologic and cutaneous manifestations, including headache, hearing loss, vitiligo, and poliosis. VKHS is more common in individuals of pigmented skin, such as Asians, Middle Easterners, Hispanics and Native Americans. Although the exact etiology of VKHS remains unclear, it has also been postulated that such an autoimmune response might be triggered by an infectious agent in a genetically susceptible individual. Several studies have demonstrated that HLA-DR4 is strongly associated with VKHD.",,"HLA-DRB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 HLA-DRB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3126"">3126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]",,,,,,"ICD-11: ED63.3
 ICD-10: H20.8 H30.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014607"">D014607</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27008848"">27008848</a>
 著者        Lavezzo MM, Sakata VM, Morita C, Rodriguez EE, Abdallah SF, da Silva FT, Hirata CE, Yamamoto JH
 タイトル      Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes.
 雑誌        Orphanet J Rare Dis 11:29 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13023-016-0412-4"">10.1186/s13023-016-0412-4</a>"
H01505,封入体筋炎,,,"Inclusion body myositis (IBM) is the most frequent acquired myopathy after age 45. It is distinguished from other inflammatory myopathies by its selective pattern of muscle involvement and slowly progressive course, and by the combination of inflammatory and degenerative muscle pathology and multi-protein deposits in muscle tissue. It typically presents with chronic insidious proximal leg and/or distal arm asymmetric muscle weakness leading to recurrent falls and loss of dexterity. Creatine kinase (CK) is elevated in IBM and needle electromyography (EMG) mostly shows a chronic irritative myopathy. Muscle histopathology demonstrates endomysial inflammatory exudates surrounding and invading non-necrotic muscle fibers often times accompanied by rimmed vacuoles and protein deposits. IBM is refractory to all known immunosuppressive therapies. It has been shown in small short-term trials that individualised exercise programs can lead to improvement or maintenance of muscle strength and aerobic capacity.",神経系疾患; 筋骨格疾患,,,,,,,,"ICD-11: 4A41.20
 ICD-10: G72.4
 MeSH: D018979","PMID:25037082
 著者        Dimachkie MM, Barohn RJ
 タイトル      Inclusion body myositis.
 雑誌        Neurol Clin 32:629-46, vii (2014)
 DOI:10.1016/j.ncl.2014.04.001
 PMID:26778717
 著者        Needham M, Mastaglia FL
 タイトル      Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment.
 雑誌        Clin Neurophysiol 127:1764-73 (2016)
 DOI:10.1016/j.clinph.2015.12.011
 PMID:26335925
 著者        Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM
 タイトル      Genetic advances in sporadic inclusion body myositis.
 雑誌        Curr Opin Rheumatol 27:586-94 (2015)
 DOI:10.1097/BOR.0000000000000213","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01505"">H01505</a>",封入体筋炎,"Inclusion body myositis (IBM) is the most frequent acquired myopathy after age 45. It is distinguished from other inflammatory myopathies by its selective pattern of muscle involvement and slowly progressive course, and by the combination of inflammatory and degenerative muscle pathology and multi-protein deposits in muscle tissue. It typically presents with chronic insidious proximal leg and/or distal arm asymmetric muscle weakness leading to recurrent falls and loss of dexterity. Creatine kinase (CK) is elevated in IBM and needle electromyography (EMG) mostly shows a chronic irritative myopathy. Muscle histopathology demonstrates endomysial inflammatory exudates surrounding and invading non-necrotic muscle fibers often times accompanied by rimmed vacuoles and protein deposits. IBM is refractory to all known immunosuppressive therapies. It has been shown in small short-term trials that individualised exercise programs can lead to improvement or maintenance of muscle strength and aerobic capacity.",,,,,,,,"ICD-11: 4A41.20
 ICD-10: G72.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018979"">D018979</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25037082"">25037082</a>
 著者        Dimachkie MM, Barohn RJ
 タイトル      Inclusion body myositis.
 雑誌        Neurol Clin 32:629-46, vii (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ncl.2014.04.001"">10.1016/j.ncl.2014.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26778717"">26778717</a>
 著者        Needham M, Mastaglia FL
 タイトル      Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment.
 雑誌        Clin Neurophysiol 127:1764-73 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.clinph.2015.12.011"">10.1016/j.clinph.2015.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26335925"">26335925</a>
 著者        Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM
 タイトル      Genetic advances in sporadic inclusion body myositis.
 雑誌        Curr Opin Rheumatol 27:586-94 (2015)
 DOI:<a href=""https://doi.org/10.1097/BOR.0000000000000213"">10.1097/BOR.0000000000000213</a>"
H01506,"肝性脳症;
 肝性昏睡;
 門脈体循環性脳障害",,,"Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations that ranges from mild cognitive impairment to coma. Although its pathogenesis is not entirely understood, one of the main factors is thought to be ammonia. Apart from hyperammonemia, various other pathogenic mechanisms, such as the gamma-aminobutyric acid (GABA) theory, the benzodiazepine theory, the manganese theory, and the theory of oxidative/nitrosative stress, have been implicated in the development of HE. The pharmacological treatments that are currently used in clinical practice are directed toward reducing the production and absorption of gut-derived ammonia.",神経系疾患; 消化器系疾患,,,,,,リファキシミン [DR:D02554],"Lactulose, probiotics, and extracorporeal albumin dialysis, especially MARS, have been demonstrated to be beneficial in cirrhotic patients.","ICD-11: DB99.5
 ICD-10: K72
 MeSH: D006501","PMID:26557005 (definition, drug)
 著者        Luo M, Guo JY, Cao WK
 タイトル      Inflammation: A novel target of current therapies for hepatic encephalopathy in liver cirrhosis.
 雑誌        World J Gastroenterol 21:11815-24 (2015)
 DOI:10.3748/wjg.v21.i41.11815
 PMID:26719720
 著者        Grover VP, Tognarelli JM, Massie N, Crossey MM, Cook NA, Taylor-Robinson SD
 タイトル      The why and wherefore of hepatic encephalopathy.
 雑誌        Int J Gen Med 8:381-90 (2015)
 DOI:10.2147/IJGM.S86854
 PMID:21885692
 著者        Wakim-Fleming J
 タイトル      Hepatic encephalopathy: suspect it early in patients with cirrhosis.
 雑誌        Cleve Clin J Med 78:597-605 (2011)
 DOI:10.3949/ccjm.78a10117","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01506"">H01506</a>","肝性脳症;
 肝性昏睡;
 門脈体循環性脳障害","Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations that ranges from mild cognitive impairment to coma. Although its pathogenesis is not entirely understood, one of the main factors is thought to be ammonia. Apart from hyperammonemia, various other pathogenic mechanisms, such as the gamma-aminobutyric acid (GABA) theory, the benzodiazepine theory, the manganese theory, and the theory of oxidative/nitrosative stress, have been implicated in the development of HE. The pharmacological treatments that are currently used in clinical practice are directed toward reducing the production and absorption of gut-derived ammonia.",,,,,,"リファキシミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02554"">D02554</a>]","Lactulose, probiotics, and extracorporeal albumin dialysis, especially MARS, have been demonstrated to be beneficial in cirrhotic patients.","ICD-11: DB99.5
 ICD-10: K72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006501"">D006501</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26557005"">26557005</a> (definition, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Luo M, Guo JY, Cao WK
 タイトル      Inflammation: A novel target of current therapies for hepatic encephalopathy in liver cirrhosis.
 雑誌        World J Gastroenterol 21:11815-24 (2015)
 DOI:<a href=""https://doi.org/10.3748/wjg.v21.i41.11815"">10.3748/wjg.v21.i41.11815</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26719720"">26719720</a>
 著者        Grover VP, Tognarelli JM, Massie N, Crossey MM, Cook NA, Taylor-Robinson SD
 タイトル      The why and wherefore of hepatic encephalopathy.
 雑誌        Int J Gen Med 8:381-90 (2015)
 DOI:<a href=""https://doi.org/10.2147/IJGM.S86854"">10.2147/IJGM.S86854</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21885692"">21885692</a>
 著者        Wakim-Fleming J
 タイトル      Hepatic encephalopathy: suspect it early in patients with cirrhosis.
 雑誌        Cleve Clin J Med 78:597-605 (2011)
 DOI:<a href=""https://doi.org/10.3949/ccjm.78a10117"">10.3949/ccjm.78a10117</a>"
H01507,"血清反応陰性関節炎
 下位グループ    強直性脊椎炎
 未分化型脊椎関節炎
 反応性関節炎
 乾癬性関節炎
 腸疾患性関節炎",,,"Seronegative spondyloarthropathies (SpA) represent a group of chronic articular inflammatory diseases which differ from rheumatoid arthritis for the typical absence of rheumatoid factor in serum, and have in common several epidemiological, pathological, clinical, and radiological features. SpA include ankylosing spondylitis (AS), reactive arthritis (ReA), enteropathic (IBD) associated arthritis, psoriatic arthritis (PsA), as well as undifferentiated, and juvenile SpA. The main clinical manifestations include inflammatory back pain, peripheral arthritis, enthesitis, and extra-skeletal manifestations, such as uveitis. Although the cause of SpA is unknown, it is generally accepted that SpA is a multifactorial disease. Genetics (such as HLA-B27), inflammatory cytokines (such as TNF), and more recently the IL-23/IL-17 cytokine pathway have links to pathogenesis. Biologic agents, particularly TNF blockers, are primary treatment options and have been shown to reduce symptomatic inflammation.",筋骨格疾患,,HLA-B [HSA:3106] [KO:K06751],,,,,,"MeSH: D025241
 OMIM: 106300","PMID:24272481
 著者        Paparo F, Revelli M, Semprini A, Camellino D, Garlaschi A, Cimmino MA, Rollandi GA, Leone A
 タイトル      Seronegative spondyloarthropathies: what radiologists should know.
 雑誌        Radiol Med 119:156-63 (2014)
 DOI:10.1007/s11547-013-0316-5
 PMID:22428451
 著者        Wilson G, Folzenlogen DD
 タイトル      Spondyloarthropathies: new directions in etiopathogenesis, diagnosis and treatment.
 雑誌        Mo Med 109:69-74 (2012)
 PMID:19591637
 著者        Melis L, Elewaut D
 タイトル      Progress in spondylarthritis. Immunopathogenesis of spondyloarthritis: which cells drive disease?
 雑誌        Arthritis Res Ther 11:233 (2009)
 DOI:10.1186/ar2722","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01507"">H01507</a>","血清反応陰性関節炎
 下位グループ    強直性脊椎炎
 未分化型脊椎関節炎
 反応性関節炎
 乾癬性関節炎
 腸疾患性関節炎","Seronegative spondyloarthropathies (SpA) represent a group of chronic articular inflammatory diseases which differ from rheumatoid arthritis for the typical absence of rheumatoid factor in serum, and have in common several epidemiological, pathological, clinical, and radiological features. SpA include ankylosing spondylitis (AS), reactive arthritis (ReA), enteropathic (IBD) associated arthritis, psoriatic arthritis (PsA), as well as undifferentiated, and juvenile SpA. The main clinical manifestations include inflammatory back pain, peripheral arthritis, enthesitis, and extra-skeletal manifestations, such as uveitis. Although the cause of SpA is unknown, it is generally accepted that SpA is a multifactorial disease. Genetics (such as HLA-B27), inflammatory cytokines (such as TNF), and more recently the IL-23/IL-17 cytokine pathway have links to pathogenesis. Biologic agents, particularly TNF blockers, are primary treatment options and have been shown to reduce symptomatic inflammation.",,"HLA-B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]",,,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D025241"">D025241</a>
 OMIM: <a href=""https://www.omim.org/entry/106300"">106300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24272481"">24272481</a>
 著者        Paparo F, Revelli M, Semprini A, Camellino D, Garlaschi A, Cimmino MA, Rollandi GA, Leone A
 タイトル      Seronegative spondyloarthropathies: what radiologists should know.
 雑誌        Radiol Med 119:156-63 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11547-013-0316-5"">10.1007/s11547-013-0316-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22428451"">22428451</a>
 著者        Wilson G, Folzenlogen DD
 タイトル      Spondyloarthropathies: new directions in etiopathogenesis, diagnosis and treatment.
 雑誌        Mo Med 109:69-74 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19591637"">19591637</a>
 著者        Melis L, Elewaut D
 タイトル      Progress in spondylarthritis. Immunopathogenesis of spondyloarthritis: which cells drive disease?
 雑誌        Arthritis Res Ther 11:233 (2009)
 DOI:<a href=""https://doi.org/10.1186/ar2722"">10.1186/ar2722</a>"
H01508,"唾液腺癌
 上位グループ    頭頸部癌 [DS:H02420]
 固形腫瘍 [DS:H02421]",,,Salivary gland carcinomas are rare tumours representing about 0.5% of all malignancies and less than 5 % of all head and neck cancers. These are a heterogeneous group of tumors that include 24 histologically distinct tumor types. Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor in adults and children. The most common genetic alteration in MECs is a unique translocation t(11;19)(q21;p13) producing the MECT1-MAML2 fusion protein. This fusion transcript can activate transcription of targets in the Notch pathway. Epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (HER2) overexpression is present in a minority of MECs and is associated with higher rate of metastasis and worse overall survival. Recent studies have evaluated the epidermal growth factor receptor family including EGFR and HER2 as potential therapeutic targets.,がん,,"CRTC1-MAML2 (translocation) [HSA:23373 84441] [KO:K15309 K06061]
 MYB-NF1B (translocation) [HSA:4602] [KO:K09420]
 ETV6-NTRK3 (translocation) [HSA:4916] [KO:K05101]
 EGFR (overexpression) [HSA:1956] [KO:K04361]
 HER2 (overexpression) [HSA:2064] [KO:K05083]
 CDKN2A (deletion) [HSA:1029] [KO:K06621]",,,,トラスツズマブ [DR:D03257] (HER2陽性),,"ICD-11: 2B68
 ICD-10: C08.9
 MeSH: D012468","PMID:22842859 (description, gene, marker, drug, tumor type)
 著者        Ettl T, Schwarz-Furlan S, Gosau M, Reichert TE
 タイトル      Salivary gland carcinomas.
 雑誌        Oral Maxillofac Surg 16:267-83 (2012)
 DOI:10.1007/s10006-012-0350-9
 PMID:26928905 (description, gene, tumor type)
 著者        Yin LX, Ha PK
 タイトル      Genetic alterations in salivary gland cancers.
 雑誌        Cancer 122:1822-31 (2016)
 DOI:10.1002/cncr.29890
 PMID:23821214
 著者        Stenman G
 タイトル      Fusion oncogenes in salivary gland tumors: molecular and clinical consequences.
 雑誌        Head Neck Pathol 7 Suppl 1:S12-9 (2013)
 DOI:10.1007/s12105-013-0462-z
 PMID:26470903 (gene, marker, tumor type)
 著者        Goyal G, Mehdi SA, Ganti AK
 タイトル      Salivary Gland Cancers: Biology and Systemic Therapy.
 雑誌        Oncology (Williston Park) 29:773-80 (2015)
 PMID:22687949 (description, marker, drug, tumor type)
 著者        Adelstein DJ, Koyfman SA, El-Naggar AK, Hanna EY
 タイトル      Biology and management of salivary gland cancers.
 雑誌        Semin Radiat Oncol 22:245-53 (2012)
 DOI:10.1016/j.semradonc.2012.03.009
 PMID:19939701 (marker, drug, tumor type)
 著者        Guzzo M, Locati LD, Prott FJ, Gatta G, McGurk M, Licitra L
 タイトル      Major and minor salivary gland tumors.
 雑誌        Crit Rev Oncol Hematol 74:134-48 (2010)
 DOI:10.1016/j.critrevonc.2009.10.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01508"">H01508</a>","唾液腺癌
 上位グループ    頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]",Salivary gland carcinomas are rare tumours representing about 0.5% of all malignancies and less than 5 % of all head and neck cancers. These are a heterogeneous group of tumors that include 24 histologically distinct tumor types. Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor in adults and children. The most common genetic alteration in MECs is a unique translocation t(11;19)(q21;p13) producing the MECT1-MAML2 fusion protein. This fusion transcript can activate transcription of targets in the Notch pathway. Epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (HER2) overexpression is present in a minority of MECs and is associated with higher rate of metastasis and worse overall survival. Recent studies have evaluated the epidermal growth factor receptor family including EGFR and HER2 as potential therapeutic targets.,,"CRTC1-MAML2 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23373"">23373</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84441"">84441</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15309"">K15309</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06061"">K06061</a>]
 MYB-NF1B (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4602"">4602</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09420"">K09420</a>]
 ETV6-NTRK3 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4916"">4916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05101"">K05101</a>]
 EGFR (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]
 HER2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 CDKN2A (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]",,,,"トラスツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03257"">D03257</a>] (HER2陽性)",,"ICD-11: 2B68
 ICD-10: C08.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012468"">D012468</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22842859"">22842859</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Ettl T, Schwarz-Furlan S, Gosau M, Reichert TE
 タイトル      Salivary gland carcinomas.
 雑誌        Oral Maxillofac Surg 16:267-83 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10006-012-0350-9"">10.1007/s10006-012-0350-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26928905"">26928905</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Yin LX, Ha PK
 タイトル      Genetic alterations in salivary gland cancers.
 雑誌        Cancer 122:1822-31 (2016)
 DOI:<a href=""https://doi.org/10.1002/cncr.29890"">10.1002/cncr.29890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23821214"">23821214</a>
 著者        Stenman G
 タイトル      Fusion oncogenes in salivary gland tumors: molecular and clinical consequences.
 雑誌        Head Neck Pathol 7 Suppl 1:S12-9 (2013)
 DOI:<a href=""https://doi.org/10.1007/s12105-013-0462-z"">10.1007/s12105-013-0462-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26470903"">26470903</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Goyal G, Mehdi SA, Ganti AK
 タイトル      Salivary Gland Cancers: Biology and Systemic Therapy.
 雑誌        Oncology (Williston Park) 29:773-80 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22687949"">22687949</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Adelstein DJ, Koyfman SA, El-Naggar AK, Hanna EY
 タイトル      Biology and management of salivary gland cancers.
 雑誌        Semin Radiat Oncol 22:245-53 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.semradonc.2012.03.009"">10.1016/j.semradonc.2012.03.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19939701"">19939701</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Guzzo M, Locati LD, Prott FJ, Gatta G, McGurk M, Licitra L
 タイトル      Major and minor salivary gland tumors.
 雑誌        Crit Rev Oncol Hematol 74:134-48 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2009.10.004"">10.1016/j.critrevonc.2009.10.004</a>"
H01509,"扁桃癌
 上位グループ    頭頸部癌 [DS:H02420]
 固形腫瘍 [DS:H02421]",,,"Tonsillar cancer (TC) is the most common oropharyngeal cancer and tumours are mainly squamous cell carcinomas. Traditionally, risk factors for the development of TC include the use of alcohol and/or tobacco, however a significant proportion of new cases develop in young patients without these risk factors. Recent investigation suggests that human papilloma virus (HPV) may serve as an etiology in such cases and represent a unique risk factor in a sub-set of patients. Compared with HPV-negative TC, HPV-positive TC showed a strong association with p16 overexpression, and an inverse association with EGFR amplification. HPV-16 integration status was strongly associated with c-myc amplification and HIF-1a overexpression. HPV-16 integration could be directly related to tonsillar carcinogenesis initially in tonsillar crypts, followed by cell cycle aberration such as p16 overexpression related to the G1-S phase.",がん,,"CDKN2A (overexpression) [HSA:1029] [KO:K06621]
 MYC (amplification) [HSA:4609] [KO:K04377]
 HIF1A (overexpression) [HSA:3091] [KO:K08268]",,,"Alcohol
 Tobacco
 病原体         Human papillomavirus type 16 [GN:T40087]",,,"ICD-11: 2B69
 ICD-10: C09.9
 MeSH: D014067","PMID:12676252 (description, carcinogen, tumor type)
 著者        Genden EM, Ferlito A, Scully C, Shaha AR, Higgins K, Rinaldo A
 タイトル      Current management of tonsillar cancer.
 雑誌        Oral Oncol 39:337-42 (2003)
 DOI:10.1016/S1368-8375(02)00085-4
 PMID:25803099 (carcinogen, marker)
 著者        Ramqvist T, Grun N, Dalianis T
 タイトル      Human papillomavirus and tonsillar and base of tongue cancer.
 雑誌        Viruses 7:1332-43 (2015)
 DOI:10.3390/v7031332
 PMID:18505048 (carcinogen, tumor type)
 著者        Dahlstrand H, Nasman A, Romanitan M, Lindquist D, Ramqvist T, Dalianis T
 タイトル      Human papillomavirus accounts both for increased incidence and better prognosis in tonsillar cancer.
 雑誌        Anticancer Res 28:1133-8 (2008)
 PMID:17205528 (description, gene, carcinogen)
 著者        Kim SH, Koo BS, Kang S, Park K, Kim H, Lee KR, Lee MJ, Kim JM, Choi EC, Cho NH
 タイトル      HPV integration begins in the tonsillar crypt and leads to the alteration of p16, EGFR and c-myc during tumor formation.
 雑誌        Int J Cancer 120:1418-25 (2007)
 DOI:10.1002/ijc.22464
 PMID:15113849 (carcinogen, tumor type)
 著者        Syrjanen S
 タイトル      HPV infections and tonsillar carcinoma.
 雑誌        J Clin Pathol 57:449-55 (2004)
 DOI:10.1136/jcp.2003.008656
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01509"">H01509</a>","扁桃癌
 上位グループ    頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Tonsillar cancer (TC) is the most common oropharyngeal cancer and tumours are mainly squamous cell carcinomas. Traditionally, risk factors for the development of TC include the use of alcohol and/or tobacco, however a significant proportion of new cases develop in young patients without these risk factors. Recent investigation suggests that human papilloma virus (HPV) may serve as an etiology in such cases and represent a unique risk factor in a sub-set of patients. Compared with HPV-negative TC, HPV-positive TC showed a strong association with p16 overexpression, and an inverse association with EGFR amplification. HPV-16 integration status was strongly associated with c-myc amplification and HIF-1a overexpression. HPV-16 integration could be directly related to tonsillar carcinogenesis initially in tonsillar crypts, followed by cell cycle aberration such as p16 overexpression related to the G1-S phase.",,"CDKN2A (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 HIF1A (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3091"">3091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08268"">K08268</a>]",,,"Alcohol
 Tobacco
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]",,,"ICD-11: 2B69
 ICD-10: C09.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014067"">D014067</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12676252"">12676252</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Genden EM, Ferlito A, Scully C, Shaha AR, Higgins K, Rinaldo A
 タイトル      Current management of tonsillar cancer.
 雑誌        Oral Oncol 39:337-42 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1368-8375(02)00085-4"">10.1016/S1368-8375(02)00085-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25803099"">25803099</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Ramqvist T, Grun N, Dalianis T
 タイトル      Human papillomavirus and tonsillar and base of tongue cancer.
 雑誌        Viruses 7:1332-43 (2015)
 DOI:<a href=""https://doi.org/10.3390/v7031332"">10.3390/v7031332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18505048"">18505048</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Dahlstrand H, Nasman A, Romanitan M, Lindquist D, Ramqvist T, Dalianis T
 タイトル      Human papillomavirus accounts both for increased incidence and better prognosis in tonsillar cancer.
 雑誌        Anticancer Res 28:1133-8 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17205528"">17205528</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Kim SH, Koo BS, Kang S, Park K, Kim H, Lee KR, Lee MJ, Kim JM, Choi EC, Cho NH
 タイトル      HPV integration begins in the tonsillar crypt and leads to the alteration of p16, EGFR and c-myc during tumor formation.
 雑誌        Int J Cancer 120:1418-25 (2007)
 DOI:<a href=""https://doi.org/10.1002/ijc.22464"">10.1002/ijc.22464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15113849"">15113849</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Syrjanen S
 タイトル      HPV infections and tonsillar carcinoma.
 雑誌        J Clin Pathol 57:449-55 (2004)
 DOI:<a href=""https://doi.org/10.1136/jcp.2003.008656"">10.1136/jcp.2003.008656</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education"
H01510,"悪性傍神経節腫
 上位グループ    傍神経節腫 [DS:H02538]",,,"Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor spread in sites where chromaffin tissue is normally absent such as lymph nodes, liver, lungs, and bones. Malignant PGLs are extremely rare. The pathogenesis and progression of PGLs are very strongly influenced by genetics. A germline mutation in one of the susceptibility genes identified so far explains ~40% of all cases; the remaining 60% are thought to be sporadic cases. Sporadic as well as hereditary PGLs have been divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is associated to the activation of hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target of rapamycin) signaling pathways.",がん,,"SDHD (mutation) [HSA:6392] [KO:K00237]
 SDHB (mutation) [HSA:6390] [KO:K00235]
 SDHC (mutation) [HSA:6391] [KO:K00236]
 NF1 (mutation) [HSA:4763] [KO:K08052]
 RET (mutation) [HSA:5979] [KO:K05126]
 VHL (mutation) [HSA:7428] [KO:K03871]
 TMEM127 (mutation) [HSA:55654] [KO:K25206]
 MAX (mutation) [HSA:4149] [KO:K04453]
 EPAS1 (mutation) [HSA:2034] [KO:K09095]
 FH (mutation) [HSA:2271] [KO:K01679]",,,,,,"ICD-11: 2D12
 ICD-10: C75.5
 MeSH: D010235","PMID:25385035
 著者        Favier J, Amar L, Gimenez-Roqueplo AP
 タイトル      Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
 雑誌        Nat Rev Endocrinol 11:101-11 (2015)
 DOI:10.1038/nrendo.2014.188
 PMID:18978332
 著者        Baysal BE
 タイトル      Clinical and molecular progress in hereditary paraganglioma.
 雑誌        J Med Genet 45:689-94 (2008)
 DOI:10.1136/jmg.2008.058560
 PMID:17298303
 著者        Martin TP, Irving RM, Maher ER
 タイトル      The genetics of paragangliomas: a review.
 雑誌        Clin Otolaryngol 32:7-11 (2007)
 DOI:10.1111/j.1365-2273.2007.01378.x
 PMID:24891137 (drug)
 著者        Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, Arfi-Roufe J, Berdelou A, Moon B, Al Ghuzlan A, Patel S, Leboulleux S, Jimenez C
 タイトル      Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma.
 雑誌        Eur J Endocrinol 171:R111-22 (2014)
 DOI:10.1530/EJE-14-0113
 PMID:22851969 (description, gene, marker, drug, tumor type)
 著者        Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giache V, Mannelli M
 タイトル      Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma/paraganglioma.
 雑誌        J Oncol 2012:872713 (2012)
 DOI:10.1155/2012/872713
 PMID:17914089 (gene, marker, drug)
 著者        Chrisoulidou A, Kaltsas G, Ilias I, Grossman AB
 タイトル      The diagnosis and management of malignant phaeochromocytoma and paraganglioma.
 雑誌        Endocr Relat Cancer 14:569-85 (2007)
 DOI:10.1677/ERC-07-0074
 PMID:26839173
 著者        Pillai S, Gopalan V, Smith RA, Lam AK
 タイトル      Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
 雑誌        Crit Rev Oncol Hematol 100:190-208 (2016)
 DOI:10.1016/j.critrevonc.2016.01.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01510"">H01510</a>","悪性傍神経節腫
 上位グループ    傍神経節腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02538"">H02538</a>]","Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor spread in sites where chromaffin tissue is normally absent such as lymph nodes, liver, lungs, and bones. Malignant PGLs are extremely rare. The pathogenesis and progression of PGLs are very strongly influenced by genetics. A germline mutation in one of the susceptibility genes identified so far explains ~40% of all cases; the remaining 60% are thought to be sporadic cases. Sporadic as well as hereditary PGLs have been divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is associated to the activation of hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target of rapamycin) signaling pathways.",,"SDHD (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6392"">6392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00237"">K00237</a>]
 SDHB (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6390"">6390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00235"">K00235</a>]
 SDHC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6391"">6391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00236"">K00236</a>]
 NF1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]
 RET (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a>]
 VHL (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7428"">7428</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03871"">K03871</a>]
 TMEM127 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55654"">55654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25206"">K25206</a>]
 MAX (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4149"">4149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04453"">K04453</a>]
 EPAS1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2034"">2034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09095"">K09095</a>]
 FH (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]",,,,,,"ICD-11: 2D12
 ICD-10: C75.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010235"">D010235</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25385035"">25385035</a>
 著者        Favier J, Amar L, Gimenez-Roqueplo AP
 タイトル      Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
 雑誌        Nat Rev Endocrinol 11:101-11 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2014.188"">10.1038/nrendo.2014.188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18978332"">18978332</a>
 著者        Baysal BE
 タイトル      Clinical and molecular progress in hereditary paraganglioma.
 雑誌        J Med Genet 45:689-94 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.058560"">10.1136/jmg.2008.058560</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17298303"">17298303</a>
 著者        Martin TP, Irving RM, Maher ER
 タイトル      The genetics of paragangliomas: a review.
 雑誌        Clin Otolaryngol 32:7-11 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2273.2007.01378.x"">10.1111/j.1365-2273.2007.01378.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24891137"">24891137</a> (drug)
 著者        Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, Arfi-Roufe J, Berdelou A, Moon B, Al Ghuzlan A, Patel S, Leboulleux S, Jimenez C
 タイトル      Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma.
 雑誌        Eur J Endocrinol 171:R111-22 (2014)
 DOI:<a href=""https://doi.org/10.1530/EJE-14-0113"">10.1530/EJE-14-0113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22851969"">22851969</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giache V, Mannelli M
 タイトル      Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma/paraganglioma.
 雑誌        J Oncol 2012:872713 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/872713"">10.1155/2012/872713</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17914089"">17914089</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Chrisoulidou A, Kaltsas G, Ilias I, Grossman AB
 タイトル      The diagnosis and management of malignant phaeochromocytoma and paraganglioma.
 雑誌        Endocr Relat Cancer 14:569-85 (2007)
 DOI:<a href=""https://doi.org/10.1677/ERC-07-0074"">10.1677/ERC-07-0074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26839173"">26839173</a>
 著者        Pillai S, Gopalan V, Smith RA, Lam AK
 タイトル      Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
 雑誌        Crit Rev Oncol Hematol 100:190-208 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2016.01.022"">10.1016/j.critrevonc.2016.01.022</a>"
H01511,肥満細胞白血病,,,"Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis. Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of various neoplastic diseases including MCL. Downstream signaling pathways, including PI3 kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason why the prognosis of patients with MCL is mostly that MCs in these patients are largely resistant against conventional drugs and targeted drugs, including tyrosine kinase inhibitors (TKI) directed against KIT D816V such as PKC412 (midostaurin).",がん,,KIT (mutation) [HSA:3815] [KO:K05091],,,,,,"ICD-11: 2A21.00
 ICD-10: C94.3
 MeSH: D007946","PMID:23243287 (gene, drug)
 著者        Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
 タイトル      Mast cell leukemia.
 雑誌        Blood 121:1285-95 (2013)
 DOI:10.1182/blood-2012-07-442400
 PMID:24675021 (description, gene, marker)
 著者        Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hagglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP
 タイトル      Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal.
 雑誌        Ann Oncol 25:1691-700 (2014)
 DOI:10.1093/annonc/mdu047
 PMID:22997594 (gene, marker)
 著者        Joris M, Georgin-Lavialle S, Chandesris MO, Lhermitte L, Claisse JF, Canioni D, Hanssens K, Damaj G, Hermine O, Hamidou M
 タイトル      Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive.
 雑誌        Case Rep Hematol 2012:517546 (2012)
 DOI:10.1155/2012/517546
 PMID:25443885 (description, gene, marke)
 著者        Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny HP
 タイトル      Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.
 雑誌        Leuk Res 39:1-5 (2015)
 DOI:10.1016/j.leukres.2014.09.010
 PMID:17949810 (description, pathway, drug)
 著者        Kajiguchi T, Lee S, Lee MJ, Trepel JB, Neckers L
 タイトル      KIT regulates tyrosine phosphorylation and nuclear localization of beta-catenin in mast cell leukemia.
 雑誌        Leuk Res 32:761-70 (2008)
 DOI:10.1016/j.leukres.2007.08.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01511"">H01511</a>",肥満細胞白血病,"Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis. Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of various neoplastic diseases including MCL. Downstream signaling pathways, including PI3 kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason why the prognosis of patients with MCL is mostly that MCs in these patients are largely resistant against conventional drugs and targeted drugs, including tyrosine kinase inhibitors (TKI) directed against KIT D816V such as PKC412 (midostaurin).",,"KIT (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]",,,,,,"ICD-11: 2A21.00
 ICD-10: C94.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007946"">D007946</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23243287"">23243287</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
 タイトル      Mast cell leukemia.
 雑誌        Blood 121:1285-95 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2012-07-442400"">10.1182/blood-2012-07-442400</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24675021"">24675021</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hagglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP
 タイトル      Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal.
 雑誌        Ann Oncol 25:1691-700 (2014)
 DOI:<a href=""https://doi.org/10.1093/annonc/mdu047"">10.1093/annonc/mdu047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22997594"">22997594</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Joris M, Georgin-Lavialle S, Chandesris MO, Lhermitte L, Claisse JF, Canioni D, Hanssens K, Damaj G, Hermine O, Hamidou M
 タイトル      Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive.
 雑誌        Case Rep Hematol 2012:517546 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/517546"">10.1155/2012/517546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25443885"">25443885</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marke)"">marke)</a>
 著者        Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny HP
 タイトル      Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.
 雑誌        Leuk Res 39:1-5 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.leukres.2014.09.010"">10.1016/j.leukres.2014.09.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17949810"">17949810</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathway,"">pathway,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Kajiguchi T, Lee S, Lee MJ, Trepel JB, Neckers L
 タイトル      KIT regulates tyrosine phosphorylation and nuclear localization of beta-catenin in mast cell leukemia.
 雑誌        Leuk Res 32:761-70 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.leukres.2007.08.023"">10.1016/j.leukres.2007.08.023</a>"
H01512,ランゲルハンス細胞組織球症,,,"Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the skin and mucosa. Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal Langerhans cells. However, new evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well as MAP2K1. Genetic, molecular and functional data implicate activation of the MAPK (ERK) signalling pathway at critical stages in myeloid differentiation as an essential and universal driver of LCH pathology.",がん,,"BRAF (mutation) [HSA:673] [KO:K04365]
 MAP2K1 (mutation) [HSA:5604] [KO:K04368]",,,,ビンブラスチン硫酸塩 [DR:D01068],,"ICD-11: 2B31.2
 ICD-10: C96.0 C96.5 C96.6
 MeSH: D006646","PMID:26414464 (description, gene,marker, tumor type)
 著者        Harmon CM, Brown N
 タイトル      Langerhans Cell Histiocytosis: A Clinicopathologic Review and Molecular Pathogenetic Update.
 雑誌        Arch Pathol Lab Med 139:1211-4 (2015)
 DOI:10.5858/arpa.2015-0199-RA
 PMID:25430560 (description, pathway, gene, marker, drug)
 著者        Berres ML, Merad M, Allen CE
 タイトル      Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?
 雑誌        Br J Haematol 169:3-13 (2015)
 DOI:10.1111/bjh.13247
 PMID:26888790 (pathway, gene, marker)
 著者        Zinn DJ, Chakraborty R, Allen CE
 タイトル      Langerhans Cell Histiocytosis: Emerging Insights and Clinical Implications.
 雑誌        Oncology (Williston Park) 30:122-32, 139 (2016)
 PMID:25310214 (description, gene, marker, drug)
 著者        Grana N
 タイトル      Langerhans cell histiocytosis.
 雑誌        Cancer Control 21:328-34 (2014)
 DOI:10.1177/107327481402100409
 PMID:25827831 (pathway, gene, drug)
 著者        Allen CE, Ladisch S, McClain KL
 タイトル      How I treat Langerhans cell histiocytosis.
 雑誌        Blood 126:26-35 (2015)
 DOI:10.1182/blood-2014-12-569301
 PMID:22906202 (marker)
 著者        Badalian-Very G, Vergilio JA, Fleming M, Rollins BJ
 タイトル      Pathogenesis of Langerhans cell histiocytosis.
 雑誌        Annu Rev Pathol 8:1-20 (2013)
 DOI:10.1146/annurev-pathol-020712-163959","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01512"">H01512</a>",ランゲルハンス細胞組織球症,"Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the skin and mucosa. Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal Langerhans cells. However, new evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well as MAP2K1. Genetic, molecular and functional data implicate activation of the MAPK (ERK) signalling pathway at critical stages in myeloid differentiation as an essential and universal driver of LCH pathology.",,"BRAF (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 MAP2K1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5604"">5604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04368"">K04368</a>]",,,,"ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]",,"ICD-11: 2B31.2
 ICD-10: C96.0 C96.5 C96.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006646"">D006646</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26414464"">26414464</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,marker,"">gene,marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/tumor"">tumor</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/type)"">type)</a>
 著者        Harmon CM, Brown N
 タイトル      Langerhans Cell Histiocytosis: A Clinicopathologic Review and Molecular Pathogenetic Update.
 雑誌        Arch Pathol Lab Med 139:1211-4 (2015)
 DOI:<a href=""https://doi.org/10.5858/arpa.2015-0199-RA"">10.5858/arpa.2015-0199-RA</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25430560"">25430560</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathway,"">pathway,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Berres ML, Merad M, Allen CE
 タイトル      Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?
 雑誌        Br J Haematol 169:3-13 (2015)
 DOI:<a href=""https://doi.org/10.1111/bjh.13247"">10.1111/bjh.13247</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26888790"">26888790</a> (pathway, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Zinn DJ, Chakraborty R, Allen CE
 タイトル      Langerhans Cell Histiocytosis: Emerging Insights and Clinical Implications.
 雑誌        Oncology (Williston Park) 30:122-32, 139 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25310214"">25310214</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Grana N
 タイトル      Langerhans cell histiocytosis.
 雑誌        Cancer Control 21:328-34 (2014)
 DOI:<a href=""https://doi.org/10.1177/107327481402100409"">10.1177/107327481402100409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25827831"">25827831</a> (pathway, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Allen CE, Ladisch S, McClain KL
 タイトル      How I treat Langerhans cell histiocytosis.
 雑誌        Blood 126:26-35 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-12-569301"">10.1182/blood-2014-12-569301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22906202"">22906202</a> (marker)
 著者        Badalian-Very G, Vergilio JA, Fleming M, Rollins BJ
 タイトル      Pathogenesis of Langerhans cell histiocytosis.
 雑誌        Annu Rev Pathol 8:1-20 (2013)
 DOI:<a href=""https://doi.org/10.1146/annurev-pathol-020712-163959"">10.1146/annurev-pathol-020712-163959</a>"
H01513,"網膜芽細胞腫;
 網膜芽腫",,,"The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in both alleles of the retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating the E2F family of transcription factors leading to uncontrolled cell cycle progression.",がん,,"RB1 (mutation) [HSA:5925] [KO:K06618]
 MDM4 (amplification) [HSA:4194] [KO:K10127]
 MDM2 (amplification) [HSA:4193] [KO:K06643]
 KIF14 (amplification) [HSA:9928] [KO:K17915]
 CDH11 (loss) [HSA:1009] [KO:K06803]
 p16/INK (loss) [HSA:1029] [KO:K06621]",,,,"シクロホスファミド水和物 [DR:D00287]
 イホスファミド [DR:D00343]
 ドキソルビシン塩酸塩 [DR:D01275]
 エトポシド [DR:D00125]
 カルボプラチン [DR:D01363]",,"ICD-11: 2D02.2
 ICD-10: C69.2
 MeSH: D012175","PMID:26310174 (description, pathway, gene, drug)
 著者        Mendoza PR, Grossniklaus HE
 タイトル      The Biology of Retinoblastoma.
 雑誌        Prog Mol Biol Transl Sci 134:503-16 (2015)
 DOI:10.1016/bs.pmbts.2015.06.012
 PMID:25940424 (description, drug)
 著者        Jenkinson H
 タイトル      Retinoblastoma: diagnosis and management--the UK perspective.
 雑誌        Arch Dis Child 100:1070-5 (2015)
 DOI:10.1136/archdischild-2014-306208
 PMID:22414599 (pathway, gene, marker, drug)
 著者        Dimaras H, Kimani K, Dimba EA, Gronsdahl P, White A, Chan HS, Gallie BL
 タイトル      Retinoblastoma.
 雑誌        Lancet 379:1436-46 (2012)
 DOI:10.1016/S0140-6736(11)61137-9
 PMID:23154492
 著者        Eagle RC Jr
 タイトル      The pathology of ocular cancer.
 雑誌        Eye (Lond) 27:128-36 (2013)
 DOI:10.1038/eye.2012.237
 PMID:25621664
 著者        Benavente CA, Dyer MA
 タイトル      Genetics and epigenetics of human retinoblastoma.
 雑誌        Annu Rev Pathol 10:547-62 (2015)
 DOI:10.1146/annurev-pathol-012414-040259
 PMID:15306814
 著者        Hernando E, Nahle Z, Juan G, Diaz-Rodriguez E, Alaminos M, Hemann M, Michel L, Mittal V, Gerald W, Benezra R, Lowe SW, Cordon-Cardo C
 タイトル      Rb inactivation promotes genomic instability by uncoupling cell cycle progression from mitotic control.
 雑誌        Nature 430:797-802 (2004)
 DOI:10.1038/nature02820","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01513"">H01513</a>","網膜芽細胞腫;
 網膜芽腫","The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in both alleles of the retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating the E2F family of transcription factors leading to uncontrolled cell cycle progression.",,"RB1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5925"">5925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06618"">K06618</a>]
 MDM4 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4194"">4194</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10127"">K10127</a>]
 MDM2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]
 KIF14 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9928"">9928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17915"">K17915</a>]
 CDH11 (loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1009"">1009</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06803"">K06803</a>]
 p16/INK (loss) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]",,"ICD-11: 2D02.2
 ICD-10: C69.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012175"">D012175</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26310174"">26310174</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathway,"">pathway,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Mendoza PR, Grossniklaus HE
 タイトル      The Biology of Retinoblastoma.
 雑誌        Prog Mol Biol Transl Sci 134:503-16 (2015)
 DOI:<a href=""https://doi.org/10.1016/bs.pmbts.2015.06.012"">10.1016/bs.pmbts.2015.06.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25940424"">25940424</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Jenkinson H
 タイトル      Retinoblastoma: diagnosis and management--the UK perspective.
 雑誌        Arch Dis Child 100:1070-5 (2015)
 DOI:<a href=""https://doi.org/10.1136/archdischild-2014-306208"">10.1136/archdischild-2014-306208</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22414599"">22414599</a> (pathway, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Dimaras H, Kimani K, Dimba EA, Gronsdahl P, White A, Chan HS, Gallie BL
 タイトル      Retinoblastoma.
 雑誌        Lancet 379:1436-46 (2012)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(11)61137-9"">10.1016/S0140-6736(11)61137-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23154492"">23154492</a>
 著者        Eagle RC Jr
 タイトル      The pathology of ocular cancer.
 雑誌        Eye (Lond) 27:128-36 (2013)
 DOI:<a href=""https://doi.org/10.1038/eye.2012.237"">10.1038/eye.2012.237</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25621664"">25621664</a>
 著者        Benavente CA, Dyer MA
 タイトル      Genetics and epigenetics of human retinoblastoma.
 雑誌        Annu Rev Pathol 10:547-62 (2015)
 DOI:<a href=""https://doi.org/10.1146/annurev-pathol-012414-040259"">10.1146/annurev-pathol-012414-040259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15306814"">15306814</a>
 著者        Hernando E, Nahle Z, Juan G, Diaz-Rodriguez E, Alaminos M, Hemann M, Michel L, Mittal V, Gerald W, Benezra R, Lowe SW, Cordon-Cardo C
 タイトル      Rb inactivation promotes genomic instability by uncoupling cell cycle progression from mitotic control.
 雑誌        Nature 430:797-802 (2004)
 DOI:<a href=""https://doi.org/10.1038/nature02820"">10.1038/nature02820</a>"
H01514,"ランドウ・クレフナー症候群
 上位グループ    ローランドてんかん、精神遅滞および発語失行 [DS:H01827]",,,"Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible with the diagnosis of epilepsy, however, only 70% have clinical seizures. The main symptoms are acute or subacute aphasia with inability to recognise, process or interpret verbal and/or non-verbal sounds. Although the exact etiology of LKS remains unclear, families with mutations in the GRIN2A gene have been described, in which some members have LKS. Recent reports have implicated susceptibility genes (SRPX2, ELP4) to idiopathic focal epilepsies.",神経系疾患; 精神及び行動の障害,,GRIN2A [HSA:2903] [KO:K05209],,,,,,"ICD-11: 8A62.2
 ICD-10: F80.3
 MeSH: D018887
 OMIM: 245570","PMID:26627294
 著者        Tuft M, Arva M, Bjornvold M, Wilson JA, Nakken KO
 タイトル      Landau-Kleffner syndrome.
 雑誌        Tidsskr Nor Laegeforen 135:2061-4 (2015)
 DOI:10.4045/tidsskr.15.0162
 PMID:20637551
 著者        Deonna T, Roulet-Perez E
 タイトル      Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate.
 雑誌        Brain Dev 32:746-52 (2010)
 DOI:10.1016/j.braindev.2010.06.011
 PMID:24828792
 著者        Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD
 タイトル      Towards the identification of a genetic basis for Landau-Kleffner syndrome.
 雑誌        Epilepsia 55:858-65 (2014)
 DOI:10.1111/epi.12645
 PMID:19682046
 著者        Rudolf G, Valenti MP, Hirsch E, Szepetowski P
 タイトル      From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
 雑誌        Epilepsia 50 Suppl 7:25-8 (2009)
 DOI:10.1111/j.1528-1167.2009.02214.x
 PMID:21887181 (drug)
 著者        Bhardwaj P, Sharma VK, Sharma R, Gautam P
 タイトル      Acquired epileptic aphasia: Landau-Kleffner syndrome.
 雑誌        J Pediatr Neurosci 4:52-3 (2009)
 DOI:10.4103/1817-1745.49114
 PMID:9118856 (drug)
 著者        Fayad MN, Choueiri R, Mikati M
 タイトル      Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report.
 雑誌        Epilepsia 38:489-94 (1997)
 DOI:10.1111/j.1528-1157.1997.tb01740.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01514"">H01514</a>","ランドウ・クレフナー症候群
 上位グループ    ローランドてんかん、精神遅滞および発語失行 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01827"">H01827</a>]","Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible with the diagnosis of epilepsy, however, only 70% have clinical seizures. The main symptoms are acute or subacute aphasia with inability to recognise, process or interpret verbal and/or non-verbal sounds. Although the exact etiology of LKS remains unclear, families with mutations in the GRIN2A gene have been described, in which some members have LKS. Recent reports have implicated susceptibility genes (SRPX2, ELP4) to idiopathic focal epilepsies.",,"GRIN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2903"">2903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05209"">K05209</a>]",,,,,,"ICD-11: 8A62.2
 ICD-10: F80.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018887"">D018887</a>
 OMIM: <a href=""https://www.omim.org/entry/245570"">245570</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26627294"">26627294</a>
 著者        Tuft M, Arva M, Bjornvold M, Wilson JA, Nakken KO
 タイトル      Landau-Kleffner syndrome.
 雑誌        Tidsskr Nor Laegeforen 135:2061-4 (2015)
 DOI:<a href=""https://doi.org/10.4045/tidsskr.15.0162"">10.4045/tidsskr.15.0162</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20637551"">20637551</a>
 著者        Deonna T, Roulet-Perez E
 タイトル      Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate.
 雑誌        Brain Dev 32:746-52 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2010.06.011"">10.1016/j.braindev.2010.06.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24828792"">24828792</a>
 著者        Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD
 タイトル      Towards the identification of a genetic basis for Landau-Kleffner syndrome.
 雑誌        Epilepsia 55:858-65 (2014)
 DOI:<a href=""https://doi.org/10.1111/epi.12645"">10.1111/epi.12645</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19682046"">19682046</a>
 著者        Rudolf G, Valenti MP, Hirsch E, Szepetowski P
 タイトル      From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
 雑誌        Epilepsia 50 Suppl 7:25-8 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2009.02214.x"">10.1111/j.1528-1167.2009.02214.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21887181"">21887181</a> (drug)
 著者        Bhardwaj P, Sharma VK, Sharma R, Gautam P
 タイトル      Acquired epileptic aphasia: Landau-Kleffner syndrome.
 雑誌        J Pediatr Neurosci 4:52-3 (2009)
 DOI:<a href=""https://doi.org/10.4103/1817-1745.49114"">10.4103/1817-1745.49114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9118856"">9118856</a> (drug)
 著者        Fayad MN, Choueiri R, Mikati M
 タイトル      Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report.
 雑誌        Epilepsia 38:489-94 (1997)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1157.1997.tb01740.x"">10.1111/j.1528-1157.1997.tb01740.x</a>"
H01515,"猩紅熱
 上位グループ    レンサ球菌感染症 [DS:H00333]",,,"Scarlet fever, also called scarlatina, is caused by Streptococcus pyogenes (GroupA Streptococcus, GAS). The important diagnostic signs of scarlet fever include fever, sore throat, rash and bright red tongue with a ""strawberry"" appearance. Scarlet fever can affect people of all ages, but it is usually attacking children under 10.",感染症,,,Streptococcus pyogenes,,,"クロラムフェニコール [DR:D00104]
 テトラサイクリン塩酸塩 [DR:D02122]
 ミノサイクリン塩酸塩 [DR:D00850]
 ベンジルペニシリンベンザチン水和物 [DR:D02157]
 ベンジルペニシリンカリウム [DR:D01053]
 クリンダマイシン塩酸塩 [DR:D02132]
 リンコマイシン塩酸塩水和物 [DR:D02346]
 アンピシリン水和物 [DR:D01251]
 アンピシリンナトリウム [DR:D02119]
 アモキシシリン水和物 [DR:D00229]
 バカンピシリン塩酸塩 [DR:D00927]
 セファレキシン [DR:D00263]
 セフィキシム水和物 [DR:D07640]
 セフジトレンピボキシル [DR:D01628]
 セフテラムピボキシル [DR:D01686]
 エリスロマイシン [DR:D00140]
 エリスロマイシンエチルコハク酸エステル [DR:D01361]
 エリスロマイシンステアリン酸塩 [DR:D02184]
 スピラマイシン酢酸エステル [DR:D02420]
 クラリスロマイシン [DR:D00276]
 クロラムフェニコールコハク酸エステルナトリウム [DR:D02185]
 ドキシサイクリン塩酸塩水和物 [DR:D02129]
 デメチルクロルテトラサイクリン塩酸塩 [DR:D00290]",,"ICD-11: 1B50
 ICD-10: A38
 MeSH: D012541
 MedlinePlus: 000974","PMID:24331532
 著者        You YH, Song YY, Yan XM, Wang HB, Zhang MH, Tao XX, Li LL, Zhang YX, Jiang XH, Zhang BH, Zhou H, Xiao D, Jin LM, Feng ZJ, Luo FJ, Zhang JZ
 タイトル      Molecular epidemiological characteristics of Streptococcus pyogenes strains involved in an outbreak of scarlet fever in China, 2011.
 雑誌        Biomed Environ Sci 26:877-85 (2013)
 DOI:10.3967/bes2013.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01515"">H01515</a>","猩紅熱
 上位グループ    レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>]","Scarlet fever, also called scarlatina, is caused by Streptococcus pyogenes (GroupA Streptococcus, GAS). The important diagnostic signs of scarlet fever include fever, sore throat, rash and bright red tongue with a ""strawberry"" appearance. Scarlet fever can affect people of all ages, but it is usually attacking children under 10.",,,Streptococcus pyogenes,,,"クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ミノサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00850"">D00850</a>]
 ベンジルペニシリンベンザチン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02157"">D02157</a>]
 ベンジルペニシリンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01053"">D01053</a>]
 クリンダマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02132"">D02132</a>]
 リンコマイシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02346"">D02346</a>]
 アンピシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01251"">D01251</a>]
 アンピシリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02119"">D02119</a>]
 アモキシシリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00229"">D00229</a>]
 バカンピシリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00927"">D00927</a>]
 セファレキシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00263"">D00263</a>]
 セフィキシム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07640"">D07640</a>]
 セフジトレンピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01628"">D01628</a>]
 セフテラムピボキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01686"">D01686</a>]
 エリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00140"">D00140</a>]
 エリスロマイシンエチルコハク酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01361"">D01361</a>]
 エリスロマイシンステアリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02184"">D02184</a>]
 スピラマイシン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02420"">D02420</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 クロラムフェニコールコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02185"">D02185</a>]
 ドキシサイクリン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02129"">D02129</a>]
 デメチルクロルテトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00290"">D00290</a>]",,"ICD-11: 1B50
 ICD-10: A38
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012541"">D012541</a>
 MedlinePlus: 000974","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24331532"">24331532</a>
 著者        You YH, Song YY, Yan XM, Wang HB, Zhang MH, Tao XX, Li LL, Zhang YX, Jiang XH, Zhang BH, Zhou H, Xiao D, Jin LM, Feng ZJ, Luo FJ, Zhang JZ
 タイトル      Molecular epidemiological characteristics of Streptococcus pyogenes strains involved in an outbreak of scarlet fever in China, 2011.
 雑誌        Biomed Environ Sci 26:877-85 (2013)
 DOI:<a href=""https://doi.org/10.3967/bes2013.016"">10.3967/bes2013.016</a>"
H01516,"成人スチル病;
 成人スティル病",,,"Adult-onset Still disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly accompanied by systemic manifestations. Complications of AOSD include transient pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities include neutrophilic leukocytosis, abnormal liver function tests, and elevated acute-phase reactants (ESR, CRP, ferritin). The exact pathogenesis of AOSD is unknown. Several factors such as genetics, infectious (bacterial and viral) agents, and environmental factors have been thought to play a causative role. Although no familial trend has been reported in AOSD, some studies have reported an association between AOSD and gene polymorphism of HLA, IL-18, and MEFV. Recent advances have revealed a pivotal role of proinflammatory cytokines such as TNF-alpha, IL-1, IL-6, IL-8, and IL-18 in disease pathogenesis. Treatment consists of anti-inflammatory medications. Non-steroidal anti-inflammatory drugs have limited efficacy, and corticosteroid therapy and disease-modifying anti-rheumatic drugs are usually required.",免疫系疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 IL-18 (polymorphism) [HSA:3606] [KO:K05482]
 MEFV (polymorphism) [HSA:4210] [KO:K12803]",,,,トシリズマブ [DR:D02596],,"ICD-11: FA23
 ICD-10: M06.1
 MeSH: D016706","PMID:25613167
 著者        Kadavath S, Efthimiou P
 タイトル      Adult-onset Still's disease-pathogenesis, clinical manifestations, and new treatment options.
 雑誌        Ann Med 47:6-14 (2015)
 DOI:10.3109/07853890.2014.971052
 PMID:17611971
 著者        Woo JH, Seong SS, Yoo DH
 タイトル      Association of interleukin 18 polymorphisms with adult onset Still's disease in Korea.
 雑誌        J Rheumatol 34:1637-9 (2007)
 PMID:25286988
 著者        Nonaka F, Migita K, Jiuchi Y, Shimizu T, Umeda M, Iwamoto N, Fujikawa K, Izumi Y, Mizokami A, Nakashima M, Ueki Y, Yasunami M, Kawakami A, Eguchi K
 タイトル      Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.
 雑誌        Clin Exp Immunol 179:392-7 (2015)
 DOI:10.1111/cei.12463","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01516"">H01516</a>","成人スチル病;
 成人スティル病","Adult-onset Still disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly accompanied by systemic manifestations. Complications of AOSD include transient pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities include neutrophilic leukocytosis, abnormal liver function tests, and elevated acute-phase reactants (ESR, CRP, ferritin). The exact pathogenesis of AOSD is unknown. Several factors such as genetics, infectious (bacterial and viral) agents, and environmental factors have been thought to play a causative role. Although no familial trend has been reported in AOSD, some studies have reported an association between AOSD and gene polymorphism of HLA, IL-18, and MEFV. Recent advances have revealed a pivotal role of proinflammatory cytokines such as TNF-alpha, IL-1, IL-6, IL-8, and IL-18 in disease pathogenesis. Treatment consists of anti-inflammatory medications. Non-steroidal anti-inflammatory drugs have limited efficacy, and corticosteroid therapy and disease-modifying anti-rheumatic drugs are usually required.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 IL-18 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3606"">3606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05482"">K05482</a>]
 MEFV (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4210"">4210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12803"">K12803</a>]",,,,"トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]",,"ICD-11: FA23
 ICD-10: M06.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016706"">D016706</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25613167"">25613167</a>
 著者        Kadavath S, Efthimiou P
 タイトル      Adult-onset Still's disease-pathogenesis, clinical manifestations, and new treatment options.
 雑誌        Ann Med 47:6-14 (2015)
 DOI:<a href=""https://doi.org/10.3109/07853890.2014.971052"">10.3109/07853890.2014.971052</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17611971"">17611971</a>
 著者        Woo JH, Seong SS, Yoo DH
 タイトル      Association of interleukin 18 polymorphisms with adult onset Still's disease in Korea.
 雑誌        J Rheumatol 34:1637-9 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25286988"">25286988</a>
 著者        Nonaka F, Migita K, Jiuchi Y, Shimizu T, Umeda M, Iwamoto N, Fujikawa K, Izumi Y, Mizokami A, Nakashima M, Ueki Y, Yasunami M, Kawakami A, Eguchi K
 タイトル      Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.
 雑誌        Clin Exp Immunol 179:392-7 (2015)
 DOI:<a href=""https://doi.org/10.1111/cei.12463"">10.1111/cei.12463</a>"
H01517,"丹毒
 上位グループ    レンサ球菌感染症 [DS:H00333]",,,"Streptococcus pyogenes (group A Streptococcus) is the usual etiologic agent of erysipelas. Symptoms and signs of erysipelas are chills, fever, a well-demarcated, erythematous, indurated, rapidly spreading patch with a palpable advancing border on the face or extremities. This disease most frequently affects infants, small children and the elderly.",感染症,,,Streptococcus pyogenes,,,,,"ICD-11: 1B70.0
 ICD-10: A46
 MeSH: D004886
 MedlinePlus: 000618","PMID:17994173
 著者        Celestin R, Brown J, Kihiczak G, Schwartz RA
 タイトル      Erysipelas: a common potentially dangerous infection.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 16:123-7 (2007)
 PMID:26866211
 著者        Stevens DL, Bryant AE
 タイトル      Impetigo, Erysipelas and Cellulitis
 雑誌        Streptococcus pyogenes: Basic Biology to Clinical Manifestations (2016)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01517"">H01517</a>","丹毒
 上位グループ    レンサ球菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00333"">H00333</a>]","Streptococcus pyogenes (group A Streptococcus) is the usual etiologic agent of erysipelas. Symptoms and signs of erysipelas are chills, fever, a well-demarcated, erythematous, indurated, rapidly spreading patch with a palpable advancing border on the face or extremities. This disease most frequently affects infants, small children and the elderly.",,,Streptococcus pyogenes,,,,,"ICD-11: 1B70.0
 ICD-10: A46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004886"">D004886</a>
 MedlinePlus: 000618","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994173"">17994173</a>
 著者        Celestin R, Brown J, Kihiczak G, Schwartz RA
 タイトル      Erysipelas: a common potentially dangerous infection.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 16:123-7 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26866211"">26866211</a>
 著者        Stevens DL, Bryant AE
 タイトル      Impetigo, Erysipelas and Cellulitis
 雑誌        Streptococcus pyogenes: Basic Biology to Clinical Manifestations (2016)"
H01518,"ロボミコーシス;
 ロボ病;
 ラカジオージス",,,"Lobomycosis, also known as Lobo disease or lacaziosis, is a chronic, granulomatous and cutaneous-subcutaneous infection that primarily occurs in tropical climates of Latin America. It is a zoonotic disease in humans and some species of dolphins. Main etiological agent is Lacazia loboi, a uncultivable dimorphic onygenale fungi.",感染症,,,Lacazia loboi,,,,,"ICD-11: 1F2B
 ICD-10: B48
 MeSH: D060368","PMID:22429689
 著者        Paniz-Mondolfi A, Talhari C, Sander Hoffmann L, Connor DL, Talhari S, Bermudez-Villapol L, Hernandez-Perez M, Van Bressem MF
 タイトル      Lobomycosis: an emerging disease in humans and delphinidae.
 雑誌        Mycoses 55:298-309 (2012)
 DOI:10.1111/j.1439-0507.2012.02184.x
 PMID:23919604
 著者        Reif JS, Schaefer AM, Bossart GD
 タイトル      Lobomycosis: risk of zoonotic transmission from dolphins to humans.
 雑誌        Vector Borne Zoonotic Dis 13:689-93 (2013)
 DOI:10.1089/vbz.2012.1280","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01518"">H01518</a>","ロボミコーシス;
 ロボ病;
 ラカジオージス","Lobomycosis, also known as Lobo disease or lacaziosis, is a chronic, granulomatous and cutaneous-subcutaneous infection that primarily occurs in tropical climates of Latin America. It is a zoonotic disease in humans and some species of dolphins. Main etiological agent is Lacazia loboi, a uncultivable dimorphic onygenale fungi.",,,Lacazia loboi,,,,,"ICD-11: 1F2B
 ICD-10: B48
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D060368"">D060368</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22429689"">22429689</a>
 著者        Paniz-Mondolfi A, Talhari C, Sander Hoffmann L, Connor DL, Talhari S, Bermudez-Villapol L, Hernandez-Perez M, Van Bressem MF
 タイトル      Lobomycosis: an emerging disease in humans and delphinidae.
 雑誌        Mycoses 55:298-309 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1439-0507.2012.02184.x"">10.1111/j.1439-0507.2012.02184.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23919604"">23919604</a>
 著者        Reif JS, Schaefer AM, Bossart GD
 タイトル      Lobomycosis: risk of zoonotic transmission from dolphins to humans.
 雑誌        Vector Borne Zoonotic Dis 13:689-93 (2013)
 DOI:<a href=""https://doi.org/10.1089/vbz.2012.1280"">10.1089/vbz.2012.1280</a>"
H01519,疥癬,,,"Scabies is a disease caused by the ectoparasitic mite Sarcoptes scabiei. Scabies is a contagious cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin of their host, reproducing and laying eggs in the burrows. Transmission of the mite commonly occurs by skin-to-skin contact, but with crusted scabies it may also occur through fomites, such as infected clothing or bedding.",感染症,,,Sarcoptes scabiei,,,"イオウ [DR:D00024]
 イベルメクチン [DR:D00804]
 フェノトリン [DR:D08357]",,"ICD-11: 1G04
 ICD-10: B86
 MeSH: D012532
 MedlinePlus: 000830","PMID:22726646
 著者        Fischer K, Holt D, Currie B, Kemp D
 タイトル      Scabies: important clinical consequences explained by new molecular studies.
 雑誌        Adv Parasitol 79:339-73 (2012)
 DOI:10.1016/B978-0-12-398457-9.00005-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01519"">H01519</a>",疥癬,"Scabies is a disease caused by the ectoparasitic mite Sarcoptes scabiei. Scabies is a contagious cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin of their host, reproducing and laying eggs in the burrows. Transmission of the mite commonly occurs by skin-to-skin contact, but with crusted scabies it may also occur through fomites, such as infected clothing or bedding.",,,Sarcoptes scabiei,,,"イオウ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00024"">D00024</a>]
 イベルメクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00804"">D00804</a>]
 フェノトリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08357"">D08357</a>]",,"ICD-11: 1G04
 ICD-10: B86
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012532"">D012532</a>
 MedlinePlus: 000830","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22726646"">22726646</a>
 著者        Fischer K, Holt D, Currie B, Kemp D
 タイトル      Scabies: important clinical consequences explained by new molecular studies.
 雑誌        Adv Parasitol 79:339-73 (2012)
 DOI:<a href=""https://doi.org/10.1016/B978-0-12-398457-9.00005-6"">10.1016/B978-0-12-398457-9.00005-6</a>"
H01520,"クロモミコーシス;
 クロモブラストミコーシス",,,"Chromomycosis, also known as Chromoblastomycosis, is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous fungi usually found in tropical and subtropical areas. Main etiological agents belong to Fonsecaea and Cladophialophora genus and, while scattered cases have been reported in Phialophora, Rhinocladiella and Exophiala genus.",感染症,,,"Fonsecaea pedrosoi
 Fonsecaea compactum
 Cladosporium carrionii
 Phialophora verrucosa
 Rhinocladiella aquaspersa",,,"テルビナフィン塩酸塩 [DR:D02219]
 ポサコナゾール [DR:D02555]
 イトラコナゾール [DR:D00350]",,"ICD-11: 1F24
 ICD-10: B43
 MeSH: D002862","PMID:26465369
 著者        Queiroz-Telles F
 タイトル      CHROMOBLASTOMYCOSIS: A NEGLECTED TROPICAL DISEASE.
 雑誌        Rev Inst Med Trop Sao Paulo 57 Suppl 19:46-50 (2015)
 DOI:10.1590/S0036-46652015000700009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01520"">H01520</a>","クロモミコーシス;
 クロモブラストミコーシス","Chromomycosis, also known as Chromoblastomycosis, is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous fungi usually found in tropical and subtropical areas. Main etiological agents belong to Fonsecaea and Cladophialophora genus and, while scattered cases have been reported in Phialophora, Rhinocladiella and Exophiala genus.",,,"Fonsecaea pedrosoi
 Fonsecaea compactum
 Cladosporium carrionii
 Phialophora verrucosa
 Rhinocladiella aquaspersa",,,"テルビナフィン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02219"">D02219</a>]
 ポサコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02555"">D02555</a>]
 イトラコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00350"">D00350</a>]",,"ICD-11: 1F24
 ICD-10: B43
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002862"">D002862</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26465369"">26465369</a>
 著者        Queiroz-Telles F
 タイトル      CHROMOBLASTOMYCOSIS: A NEGLECTED TROPICAL DISEASE.
 雑誌        Rev Inst Med Trop Sao Paulo 57 Suppl 19:46-50 (2015)
 DOI:<a href=""https://doi.org/10.1590/S0036-46652015000700009"">10.1590/S0036-46652015000700009</a>"
H01521,"ニューモシスチス肺炎;
 カリニ肺炎",,,"Pneumocystis pneumonia (PCP) is an infectious disease caused by Pneumocystis jirovecii that belongs to the genus Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that reside in the lungs of many mammals. The 5 main species are have been identified. PCP is a potentially life-threatening disease that occurs in immunocompromised patients.",感染症,,,Pneumocystis jirovecii,,,"スルファメトキサゾール・トリメトプリム [DR:D00285]
 アトバコン [DR:D00236]
 ペンタミジンイセチオン酸塩 [DR:D00834]",,"ICD-11: CA40.20 1F2G
 ICD-10: B59
 MeSH: D011020
 MedlinePlus: 000671","PMID:26281787
 著者        Sokulska M, Kicia M, Wesolowska M, Hendrich AB
 タイトル      Pneumocystis jirovecii--from a commensal to pathogen: clinical and diagnostic review.
 雑誌        Parasitol Res 114:3577-85 (2015)
 DOI:10.1007/s00436-015-4678-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01521"">H01521</a>","ニューモシスチス肺炎;
 カリニ肺炎","Pneumocystis pneumonia (PCP) is an infectious disease caused by Pneumocystis jirovecii that belongs to the genus Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that reside in the lungs of many mammals. The 5 main species are have been identified. PCP is a potentially life-threatening disease that occurs in immunocompromised patients.",,,Pneumocystis jirovecii,,,"スルファメトキサゾール・トリメトプリム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00285"">D00285</a>]
 アトバコン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00236"">D00236</a>]
 ペンタミジンイセチオン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00834"">D00834</a>]",,"ICD-11: CA40.20 1F2G
 ICD-10: B59
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011020"">D011020</a>
 MedlinePlus: 000671","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26281787"">26281787</a>
 著者        Sokulska M, Kicia M, Wesolowska M, Hendrich AB
 タイトル      Pneumocystis jirovecii--from a commensal to pathogen: clinical and diagnostic review.
 雑誌        Parasitol Res 114:3577-85 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00436-015-4678-6"">10.1007/s00436-015-4678-6</a>"
H01522,ゾリンジャー・エリソン症候群,,,"Zollinger-Ellison syndrome (ZES) is a rare endocrinopathy caused by tumors of the pancreas and duodenum. These tumors, called gastrinomas, release gastrin to produce large amounts of acid that result in severe gastroesophageal peptic ulcer disease and diarrhea. Most ZES cases are sporadic, but about over 20 percent are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (see H00247). The clinical presentation is not specific for this disease and there is overlap of symptoms similar to those of a peptic ulcer. The most common symptoms include abdominal pain and diarrhea, sometimes accompanied by heartburn, nausea, and weight loss. Peptic ulceration complicated by bleeding is present in 25% of patients, and is more frequently in patients with sporadic ZES than in those with MEN1. In addition, the gastrinomas may be cancerous. The cancer can be spread to other parts of the body, most commonly to regional lymph nodes and the liver. The treatment of the ZES includes surgical removal and medical management of gastric acid hypersecretion for the prevention of malignant transformation and the genesis of complications.",内分泌代謝疾患,,MEN1 [HSA:4221] [KO:K14970],,,,"シメチジン [DR:D00295]
 ラニチジン塩酸塩 [DR:D00673]
 ファモチジン [DR:D00318]
 ロキサチジン酢酸エステル塩酸塩 [DR:D01467]
 オメプラゾール [DR:D00455]
 オメプラゾールナトリウム [DR:D05261]
 ラベプラゾールナトリウム [DR:D00724]
 エソメプラゾールマグネシウム水和物 [DR:D01984]
 オクトレオチド酢酸塩 [DR:D02250]",,"ICD-11: 5A43.1
 ICD-10: E16.4
 MeSH: D015043
 OMIM: 131100","PMID:23363383
 著者        Ito T, Igarashi H, Uehara H, Jensen RT
 タイトル      Pharmacotherapy of Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 14:307-21 (2013)
 DOI:10.1517/14656566.2013.767332
 PMID:14747767
 著者        Gibril F, Schumann M, Pace A, Jensen RT
 タイトル      Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature.
 雑誌        Medicine (Baltimore) 83:43-83 (2004)
 DOI:10.1097/01.md.0000112297.72510.32
 PMID:24319020 (description and diagnosis)
 著者        Epelboym I, Mazeh H
 タイトル      Zollinger-Ellison syndrome: classical considerations and current controversies.
 雑誌        Oncologist 19:44-50 (2014)
 DOI:10.1634/theoncologist.2013-0369
 PMID:19351273 (drug)
 著者        Wilcox CM, Hirschowitz BI
 タイトル      Treatment strategies for Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 10:1145-57 (2009)
 DOI:10.1517/14656560902887035
 PMID:16433582 (drug)
 著者        Nieto JM, Pisegna JR
 タイトル      The role of proton pump inhibitors in the treatment of Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 7:169-75 (2006)
 DOI:10.1517/14656566.7.2.169","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01522"">H01522</a>",ゾリンジャー・エリソン症候群,"Zollinger-Ellison syndrome (ZES) is a rare endocrinopathy caused by tumors of the pancreas and duodenum. These tumors, called gastrinomas, release gastrin to produce large amounts of acid that result in severe gastroesophageal peptic ulcer disease and diarrhea. Most ZES cases are sporadic, but about over 20 percent are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (see <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00247)."">H00247).</a> The clinical presentation is not specific for this disease and there is overlap of symptoms similar to those of a peptic ulcer. The most common symptoms include abdominal pain and diarrhea, sometimes accompanied by heartburn, nausea, and weight loss. Peptic ulceration complicated by bleeding is present in 25% of patients, and is more frequently in patients with sporadic ZES than in those with MEN1. In addition, the gastrinomas may be cancerous. The cancer can be spread to other parts of the body, most commonly to regional lymph nodes and the liver. The treatment of the ZES includes surgical removal and medical management of gastric acid hypersecretion for the prevention of malignant transformation and the genesis of complications.",,"MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]",,,,"シメチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00295"">D00295</a>]
 ラニチジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00673"">D00673</a>]
 ファモチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00318"">D00318</a>]
 ロキサチジン酢酸エステル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01467"">D01467</a>]
 オメプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00455"">D00455</a>]
 オメプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05261"">D05261</a>]
 ラベプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00724"">D00724</a>]
 エソメプラゾールマグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01984"">D01984</a>]
 オクトレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02250"">D02250</a>]",,"ICD-11: 5A43.1
 ICD-10: E16.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015043"">D015043</a>
 OMIM: <a href=""https://www.omim.org/entry/131100"">131100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23363383"">23363383</a>
 著者        Ito T, Igarashi H, Uehara H, Jensen RT
 タイトル      Pharmacotherapy of Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 14:307-21 (2013)
 DOI:<a href=""https://doi.org/10.1517/14656566.2013.767332"">10.1517/14656566.2013.767332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14747767"">14747767</a>
 著者        Gibril F, Schumann M, Pace A, Jensen RT
 タイトル      Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature.
 雑誌        Medicine (Baltimore) 83:43-83 (2004)
 DOI:<a href=""https://doi.org/10.1097/01.md.0000112297.72510.32"">10.1097/01.md.0000112297.72510.32</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24319020"">24319020</a> (description <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/diagnosis)"">diagnosis)</a>
 著者        Epelboym I, Mazeh H
 タイトル      Zollinger-Ellison syndrome: classical considerations and current controversies.
 雑誌        Oncologist 19:44-50 (2014)
 DOI:<a href=""https://doi.org/10.1634/theoncologist.2013-0369"">10.1634/theoncologist.2013-0369</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19351273"">19351273</a> (drug)
 著者        Wilcox CM, Hirschowitz BI
 タイトル      Treatment strategies for Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 10:1145-57 (2009)
 DOI:<a href=""https://doi.org/10.1517/14656560902887035"">10.1517/14656560902887035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16433582"">16433582</a> (drug)
 著者        Nieto JM, Pisegna JR
 タイトル      The role of proton pump inhibitors in the treatment of Zollinger-Ellison syndrome.
 雑誌        Expert Opin Pharmacother 7:169-75 (2006)
 DOI:<a href=""https://doi.org/10.1517/14656566.7.2.169"">10.1517/14656566.7.2.169</a>"
H01523,"ウィスコット・アルドリッチ症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Recent research suggested that the WIPF1-encoded protein WIP binds to the region of WASP which is frequently mutated in patients with this disease, and WIP mutations themselves lead to an immunological disorder resembling Wiskott-Aldrich syndrome.",免疫系疾患,,"(WAS1) WAS [HSA:7454] [KO:K05747]
 (WAS2) WIPF1 [HSA:7456] [KO:K19475]",,,,シクロホスファミド水和物 [DR:D00287],"X-linked thrombocytopenia (H00978) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia.
 See also H00107 Other well-defined immunodeficiency syndromes.","ICD-11: 3B62.0Y
 ICD-10: D82.0
 MeSH: D014923
 OMIM: 301000 614493","PMID:8069912 (WAS)
 著者        Derry JM, Ochs HD, Francke U
 タイトル      Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
 雑誌        Cell 78:635-44 (1994)
 DOI:10.1016/0092-8674(94)90528-2
 PMID:22231303 (WIPF1)
 著者        Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S
 タイトル      A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
 雑誌        J Exp Med 209:29-34 (2012)
 DOI:10.1084/jem.20110896","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01523"">H01523</a>","ウィスコット・アルドリッチ症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Recent research suggested that the WIPF1-encoded protein WIP binds to the region of WASP which is frequently mutated in patients with this disease, and WIP mutations themselves lead to an immunological disorder resembling Wiskott-Aldrich syndrome.",,"(WAS1) WAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7454"">7454</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05747"">K05747</a>]
 (WAS2) WIPF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7456"">7456</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19475"">K19475</a>]",,,,"シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]","X-linked thrombocytopenia (H00978) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a> Other well-defined immunodeficiency syndromes.","ICD-11: 3B62.0Y
 ICD-10: D82.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014923"">D014923</a>
 OMIM: <a href=""https://www.omim.org/entry/301000"">301000</a> <a href=""https://www.omim.org/entry/614493"">614493</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8069912"">8069912</a> (WAS)
 著者        Derry JM, Ochs HD, Francke U
 タイトル      Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
 雑誌        Cell 78:635-44 (1994)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(94)90528-2"">10.1016/0092-8674(94)90528-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22231303"">22231303</a> (WIPF1)
 著者        Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S
 タイトル      A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
 雑誌        J Exp Med 209:29-34 (2012)
 DOI:<a href=""https://doi.org/10.1084/jem.20110896"">10.1084/jem.20110896</a>"
H01524,"ディジョ−ジ症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]
 22q11.2 欠失症候群 [DS:H01525]",,,"DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. Most patients with this syndrome have a genomic deletion of chromosome 22q11, including the DiGeorge critical region (DGCR). A small number of cases of DGS have defects in other chromosomes, notably 10p13. Approximately 17% of patients with the phenotypic features of this syndrome have no detectable genomic deletion. Several mutations in TBX1 have been identified recently in non-deleted patients, including missense and frameshift mutations.",原発性免疫不全症候群,,TBX1 [HSA:6899] [KO:K10175],,,,,"DiGeorge syndrome is closely related to H01004 Velocardiofacial syndrome.
 See also H00107 Other well-defined immunodeficiency syndromes, and H01525 22q11.2 deletion syndrome.","ICD-11: LD44.N0
 ICD-10: D82.1
 MeSH: D004062
 OMIM: 188400","PMID:24198816
 著者        Davies EG
 タイトル      Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.
 雑誌        Front Immunol 4:322 (2013)
 DOI:10.3389/fimmu.2013.00322
 PMID:9781025
 著者        Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T
 タイトル      Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
 雑誌        Eur J Hum Genet 6:213-25 (1998)
 DOI:10.1038/sj.ejhg.5200183
 PMID:15703190
 著者        Stoller JZ, Epstein JA
 タイトル      Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
 雑誌        Hum Mol Genet 14:885-92 (2005)
 DOI:10.1093/hmg/ddi081
 PMID:11339371 (drug)
 著者        Weinzimer SA
 タイトル      Endocrine aspects of the 22q11.2 deletion syndrome.
 雑誌        Genet Med 3:19-22 (2001)
 DOI:10.1097/00125817-200101000-00005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01524"">H01524</a>","ディジョ−ジ症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 22q11.2 欠失症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a>]","DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. Most patients with this syndrome have a genomic deletion of chromosome 22q11, including the DiGeorge critical region (DGCR). A small number of cases of DGS have defects in other chromosomes, notably 10p13. Approximately 17% of patients with the phenotypic features of this syndrome have no detectable genomic deletion. Several mutations in TBX1 have been identified recently in non-deleted patients, including missense and frameshift mutations.",,"TBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6899"">6899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10175"">K10175</a>]",,,,,"DiGeorge syndrome is closely related to <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01004"">H01004</a> Velocardiofacial syndrome.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a> Other well-defined immunodeficiency syndromes, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a> 22q11.2 deletion syndrome.","ICD-11: LD44.N0
 ICD-10: D82.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004062"">D004062</a>
 OMIM: <a href=""https://www.omim.org/entry/188400"">188400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24198816"">24198816</a>
 著者        Davies EG
 タイトル      Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.
 雑誌        Front Immunol 4:322 (2013)
 DOI:<a href=""https://doi.org/10.3389/fimmu.2013.00322"">10.3389/fimmu.2013.00322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9781025"">9781025</a>
 著者        Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T
 タイトル      Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
 雑誌        Eur J Hum Genet 6:213-25 (1998)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200183"">10.1038/sj.ejhg.5200183</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15703190"">15703190</a>
 著者        Stoller JZ, Epstein JA
 タイトル      Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
 雑誌        Hum Mol Genet 14:885-92 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi081"">10.1093/hmg/ddi081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11339371"">11339371</a> (drug)
 著者        Weinzimer SA
 タイトル      Endocrine aspects of the 22q11.2 deletion syndrome.
 雑誌        Genet Med 3:19-22 (2001)
 DOI:<a href=""https://doi.org/10.1097/00125817-200101000-00005"">10.1097/00125817-200101000-00005</a>"
H01525,"22q11.2 欠失症候群;
 キャッチ 22
 下位グループ    ディジョ−ジ症候群 [DS:H01524]
 口蓋心臓顔面症候群 [DS:H01004]",,,"The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected. Various syndromes have been associated with 22q11.2 deletion including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), and isolated and familial forms of cardiovascular malformation. Microdeletions of 22q11.2 have been found in more than 90% of patients with DGS and over 85% of VCFS/ CTAF patients. In addition, several patients with Opitz-GBBB syndrome have been reported with microdeletions of 22q11. The variability in the clinical expression of this disease is extremely wide. Classical features include congenital heart disease, velopharyngeal insufficiency or cleft palate, facial anomalies, speech and learning disabilities, neonatal hypocalcemia, and T-cell immune deficit. Nevertheless, the spectrum of anomalies associated with 22q11.2 deletion is becoming wider and wider. Some cardiovascular abnormalities are relatively specific for the syndrome. An interruption of the aortic arch, type-B (IAA-B) is associated with deletion 22q11 in approximately 50% of cases. Other defects including tetralogy of Fallot [DS:H00549], double outflow right ventricle, ventricular septal defect and an aberrant origin of the right subclavian artery are frequently found.",染色体異常,,TBX1 [HSA:6899] [KO:K10175],,,,,,"ICD-11: LD44.N0
 ICD-10: Q93.8
 MeSH: D058165
 OMIM: 188400 611867","PMID:25123577
 著者        Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF
 タイトル      Neural tube defects and atypical deletion on 22q11.2.
 雑誌        Am J Med Genet A 164A:2701-6 (2014)
 DOI:10.1002/ajmg.a.36701
 PMID:22368650
 著者        Digilio M, Marino B, Capolino R, Dallapiccola B
 タイトル      Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).
 雑誌        Images Paediatr Cardiol 7:23-34 (2005)
 PMID:9268629
 著者        Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML
 タイトル      Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
 雑誌        Genomics 43:267-77 (1997)
 DOI:10.1006/geno.1997.4829
 PMID:20054531
 著者        Scambler PJ
 タイトル      22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
 雑誌        Pediatr Cardiol 31:378-90 (2010)
 DOI:10.1007/s00246-009-9613-0
 PMID:12644781
 著者        Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, Ando M, Joh-o K, Kuroe K, Ohtake A, Takao A, Momma K, Matsuoka R
 タイトル      Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.
 雑誌        Genet Med 5:113-9 (2003)
 DOI:10.1097/01.GIM.0000056828.03164.30","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a>","22q11.2 欠失症候群;
 キャッチ 22
 下位グループ    ディジョ−ジ症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01524"">H01524</a>]
 口蓋心臓顔面症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01004"">H01004</a>]","The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected. Various syndromes have been associated with 22q11.2 deletion including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), and isolated and familial forms of cardiovascular malformation. Microdeletions of 22q11.2 have been found in more than 90% of patients with DGS and over 85% of VCFS/ CTAF patients. In addition, several patients with Opitz-GBBB syndrome have been reported with microdeletions of 22q11. The variability in the clinical expression of this disease is extremely wide. Classical features include congenital heart disease, velopharyngeal insufficiency or cleft palate, facial anomalies, speech and learning disabilities, neonatal hypocalcemia, and T-cell immune deficit. Nevertheless, the spectrum of anomalies associated with 22q11.2 deletion is becoming wider and wider. Some cardiovascular abnormalities are relatively specific for the syndrome. An interruption of the aortic arch, type-B (IAA-B) is associated with deletion 22q11 in approximately 50% of cases. Other defects including tetralogy of Fallot [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00549],"">H00549],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:double"">double</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:outflow"">outflow</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:right"">right</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ventricle,"">ventricle,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ventricular"">ventricular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:septal"">septal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:defect"">defect</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:aberrant"">aberrant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:origin"">origin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:right"">right</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:subclavian"">subclavian</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:artery"">artery</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:frequently"">frequently</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found."">found.</a>",,"TBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6899"">6899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10175"">K10175</a>]",,,,,,"ICD-11: LD44.N0
 ICD-10: Q93.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058165"">D058165</a>
 OMIM: <a href=""https://www.omim.org/entry/188400"">188400</a> <a href=""https://www.omim.org/entry/611867"">611867</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25123577"">25123577</a>
 著者        Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF
 タイトル      Neural tube defects and atypical deletion on 22q11.2.
 雑誌        Am J Med Genet A 164A:2701-6 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36701"">10.1002/ajmg.a.36701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22368650"">22368650</a>
 著者        Digilio M, Marino B, Capolino R, Dallapiccola B
 タイトル      Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).
 雑誌        Images Paediatr Cardiol 7:23-34 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9268629"">9268629</a>
 著者        Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML
 タイトル      Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
 雑誌        Genomics 43:267-77 (1997)
 DOI:<a href=""https://doi.org/10.1006/geno.1997.4829"">10.1006/geno.1997.4829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20054531"">20054531</a>
 著者        Scambler PJ
 タイトル      22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
 雑誌        Pediatr Cardiol 31:378-90 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00246-009-9613-0"">10.1007/s00246-009-9613-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12644781"">12644781</a>
 著者        Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, Ando M, Joh-o K, Kuroe K, Ohtake A, Takao A, Momma K, Matsuoka R
 タイトル      Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.
 雑誌        Genet Med 5:113-9 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.GIM.0000056828.03164.30"">10.1097/01.GIM.0000056828.03164.30</a>"
H01526,"レッグ・カルベ・ペルテス病
 上位グループ    II 型コラーゲン異常症 [DS:H00520]
 大腿骨頭壊死症 [DS:H01529]",,,"Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease.",筋骨格疾患,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: FB82.1
 ICD-10: M91.1
 MeSH: D007873
 OMIM: 150600","PMID:26962263
 著者        Bansal T, Jaiswal R
 タイトル      Legg-Calve-Perthes disease: A must know entity for anaesthesiologists.
 雑誌        Indian J Anaesth 60:68-9 (2016)
 DOI:10.4103/0019-5049.174807
 PMID:22270467 (drug)
 著者        Young ML, Little DG, Kim HK
 タイトル      Evidence for using bisphosphonate to treat Legg-Calve-Perthes disease.
 雑誌        Clin Orthop Relat Res 470:2462-75 (2012)
 DOI:10.1007/s11999-011-2240-0
 PMID:17394019
 著者        Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S
 タイトル      A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
 雑誌        Hum Genet 121:625-9 (2007)
 DOI:10.1007/s00439-007-0354-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01526"">H01526</a>","レッグ・カルベ・ペルテス病
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]
 大腿骨頭壊死症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01529"">H01529</a>]","Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease.",,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: FB82.1
 ICD-10: M91.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007873"">D007873</a>
 OMIM: <a href=""https://www.omim.org/entry/150600"">150600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26962263"">26962263</a>
 著者        Bansal T, Jaiswal R
 タイトル      Legg-Calve-Perthes disease: A must know entity for anaesthesiologists.
 雑誌        Indian J Anaesth 60:68-9 (2016)
 DOI:<a href=""https://doi.org/10.4103/0019-5049.174807"">10.4103/0019-5049.174807</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22270467"">22270467</a> (drug)
 著者        Young ML, Little DG, Kim HK
 タイトル      Evidence for using bisphosphonate to treat Legg-Calve-Perthes disease.
 雑誌        Clin Orthop Relat Res 470:2462-75 (2012)
 DOI:<a href=""https://doi.org/10.1007/s11999-011-2240-0"">10.1007/s11999-011-2240-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17394019"">17394019</a>
 著者        Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S
 タイトル      A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
 雑誌        Hum Genet 121:625-9 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00439-007-0354-y"">10.1007/s00439-007-0354-y</a>"
H01527,"慢性炎症性脱髄性多発神経炎;
 多巣性運動ニューロパチー",,,"Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually becoming persistently disabled. The core clinical features are a chronic progressive or relapsing and remitting, symmetrical, and sensory and motor polyradiculoneuropathy causing weakness of proximal and distal muscles. The etiology is suspected to be of autoimmune origin, and the diagnosis is typically based on clinical history, neurologic examination, electrophysiologic studies, cerebrospinal fluid (CSF) studies, and pathologic examination. CIDP often responds to immune therapies including corticosteroids, plasma exchange, and high-dose intravenous immunoglobulin (IVIg).",免疫系疾患; 神経系疾患,,,,,,"pH4処理酸性人免疫グロブリン [DR:D08779]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥スルホ化人免疫グロブリン [DR:D08786]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]",,"ICD-11: 8C01.3
 ICD-10: G61.8
 MeSH: D020277","PMID:26437234 (description, drug)
 著者        Press R, Hiew FL, Rajabally YA
 タイトル      Steroids for chronic inflammatory demyelinating polyradiculoneuropathy: evidence base and clinical practice.
 雑誌        Acta Neurol Scand 133:228-38 (2016)
 DOI:10.1111/ane.12519
 PMID:26203970
 著者        Nobile-Orazio E, Gallia F
 タイトル      Update on the treatment of chronic inflammatory demyelinating polyradiculoneuropathy.
 雑誌        Curr Opin Neurol 28:480-5 (2015)
 DOI:10.1097/WCO.0000000000000232
 PMID:26008811
 著者        Kleyman I, Brannagan TH 3rd
 タイトル      Treatment of chronic inflammatory demyelinating polyneuropathy.
 雑誌        Curr Neurol Neurosci Rep 15:47 (2015)
 DOI:10.1007/s11910-015-0563-z
 PMID:16519780
 著者        Hughes RA, Allen D, Makowska A, Gregson NA
 タイトル      Pathogenesis of chronic inflammatory demyelinating polyradiculoneuropathy.
 雑誌        J Peripher Nerv Syst 11:30-46 (2006)
 DOI:10.1111/j.1085-9489.2006.00061.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01527"">H01527</a>","慢性炎症性脱髄性多発神経炎;
 多巣性運動ニューロパチー","Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually becoming persistently disabled. The core clinical features are a chronic progressive or relapsing and remitting, symmetrical, and sensory and motor polyradiculoneuropathy causing weakness of proximal and distal muscles. The etiology is suspected to be of autoimmune origin, and the diagnosis is typically based on clinical history, neurologic examination, electrophysiologic studies, cerebrospinal fluid (CSF) studies, and pathologic examination. CIDP often responds to immune therapies including corticosteroids, plasma exchange, and high-dose intravenous immunoglobulin (IVIg).",,,,,,"pH4処理酸性人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08779"">D08779</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]",,"ICD-11: 8C01.3
 ICD-10: G61.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020277"">D020277</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26437234"">26437234</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Press R, Hiew FL, Rajabally YA
 タイトル      Steroids for chronic inflammatory demyelinating polyradiculoneuropathy: evidence base and clinical practice.
 雑誌        Acta Neurol Scand 133:228-38 (2016)
 DOI:<a href=""https://doi.org/10.1111/ane.12519"">10.1111/ane.12519</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26203970"">26203970</a>
 著者        Nobile-Orazio E, Gallia F
 タイトル      Update on the treatment of chronic inflammatory demyelinating polyradiculoneuropathy.
 雑誌        Curr Opin Neurol 28:480-5 (2015)
 DOI:<a href=""https://doi.org/10.1097/WCO.0000000000000232"">10.1097/WCO.0000000000000232</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26008811"">26008811</a>
 著者        Kleyman I, Brannagan TH 3rd
 タイトル      Treatment of chronic inflammatory demyelinating polyneuropathy.
 雑誌        Curr Neurol Neurosci Rep 15:47 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11910-015-0563-z"">10.1007/s11910-015-0563-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16519780"">16519780</a>
 著者        Hughes RA, Allen D, Makowska A, Gregson NA
 タイトル      Pathogenesis of chronic inflammatory demyelinating polyradiculoneuropathy.
 雑誌        J Peripher Nerv Syst 11:30-46 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1085-9489.2006.00061.x"">10.1111/j.1085-9489.2006.00061.x</a>"
H01528,悪性症候群,,,"Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. NMS is classically associated with the use of high-potency antipsychotics (AP), such as butyrophenones and phenothiazines, but has also been described with newer agents, commonly described as atypical AP (risperidone, olanzapine, quetiapine), other D2-receptor antagonists (metoclopramide), and following withdrawal of anti dopaminergic agents. Although the precise pathophysiologic mechanism underlying NMS remains unknown, a reduction in dopaminergic activity in the brain probably by dopamine D2 receptor blockade in the striatum and hypothalamus is generally assumed as a potential cause. Laboratory findings include elevation of serum creatine phosphokinase (CK), liver enzymes, and leukocitosis. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological interventions in more severe cases.",神経系疾患,,,,Antipsychotics,,ダントロレンナトリウム水和物 [DR:D02274],,"ICD-11: 8A07.Y
 ICD-10: G21.0
 MeSH: D009459","PMID:26411967 (description, drug)
 著者        Tse L, Barr AM, Scarapicchia V, Vila-Rodriguez F
 タイトル      Neuroleptic Malignant Syndrome: A Review from a Clinically Oriented Perspective.
 雑誌        Curr Neuropharmacol 13:395-406 (2015)
 DOI:10.2174/1570159X13999150424113345
 PMID:22042175
 著者        Moscovich M, Novak FT, Fernandes AF, Bruch T, Tomelin T, Novak EM, Munhoz RP, Teive HA
 タイトル      Neuroleptic malignant syndrome.
 雑誌        Arq Neuropsiquiatr 69:751-5 (2011)
 DOI:10.1590/S0004-282X2011000600005
 PMID:23983836
 著者        Berman BD
 タイトル      Neuroleptic malignant syndrome: a review for neurohospitalists.
 雑誌        Neurohospitalist 1:41-7 (2011)
 DOI:10.1177/1941875210386491","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01528"">H01528</a>",悪性症候群,"Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. NMS is classically associated with the use of high-potency antipsychotics (AP), such as butyrophenones and phenothiazines, but has also been described with newer agents, commonly described as atypical AP (risperidone, olanzapine, quetiapine), other D2-receptor antagonists (metoclopramide), and following withdrawal of anti dopaminergic agents. Although the precise pathophysiologic mechanism underlying NMS remains unknown, a reduction in dopaminergic activity in the brain probably by dopamine D2 receptor blockade in the striatum and hypothalamus is generally assumed as a potential cause. Laboratory findings include elevation of serum creatine phosphokinase (CK), liver enzymes, and leukocitosis. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological interventions in more severe cases.",,,,Antipsychotics,,"ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]",,"ICD-11: 8A07.Y
 ICD-10: G21.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009459"">D009459</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26411967"">26411967</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tse L, Barr AM, Scarapicchia V, Vila-Rodriguez F
 タイトル      Neuroleptic Malignant Syndrome: A Review from a Clinically Oriented Perspective.
 雑誌        Curr Neuropharmacol 13:395-406 (2015)
 DOI:<a href=""https://doi.org/10.2174/1570159X13999150424113345"">10.2174/1570159X13999150424113345</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22042175"">22042175</a>
 著者        Moscovich M, Novak FT, Fernandes AF, Bruch T, Tomelin T, Novak EM, Munhoz RP, Teive HA
 タイトル      Neuroleptic malignant syndrome.
 雑誌        Arq Neuropsiquiatr 69:751-5 (2011)
 DOI:<a href=""https://doi.org/10.1590/S0004-282X2011000600005"">10.1590/S0004-282X2011000600005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23983836"">23983836</a>
 著者        Berman BD
 タイトル      Neuroleptic malignant syndrome: a review for neurohospitalists.
 雑誌        Neurohospitalist 1:41-7 (2011)
 DOI:<a href=""https://doi.org/10.1177/1941875210386491"">10.1177/1941875210386491</a>"
H01529,"大腿骨頭壊死症
 下位グループ    レッグ・カルベ・ペルテス病 [DS:H01526]",,,"Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:H01526] is a particular type of femoral head necrosis occurring in children. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.",筋骨格疾患,,"(ANFH1) COL2A1 [HSA:1280] [KO:K19719]
 (ANFH2) TRPV4 [HSA:59341] [KO:K04973]
 SERPINE1 [HSA:5054] [KO:K03982]
 VEGFA [HSA:7422] [KO:K05448]
 NOS3 [HSA:4846] [KO:K13242]
 ABCB1 [HSA:5243] [KO:K05658]",,,,,,"ICD-11: FB82.1
 ICD-10: M87.8
 MeSH: D005271
 OMIM: 608805 617383","PMID:15179599 (COL2A1)
 著者        Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF
 タイトル      Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
 雑誌        Am J Hum Genet 75:310-7 (2004)
 DOI:10.1086/422702
 PMID:27330106 (TRPV4)
 著者        Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Seguin C
 タイトル      Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
 雑誌        J Med Genet 53:705-9 (2016)
 DOI:10.1136/jmedgenet-2016-103829
 PMID:23856555 (SERPINE1)
 著者        Liang XN, Xie L, Cheng JW, Tan Z, Yao J, Liu Q, Su W, Qin X, Zhao JM
 タイトル      Association between PAI-1 4G/5G Polymorphisms and osteonecrosis of femoral head: a meta-analysis.
 雑誌        Thromb Res 132:158-63 (2013)
 DOI:10.1016/j.thromres.2013.06.023
 PMID:26535684 (VEGFA NOS3 ABCB1)
 著者        Zhou ZC, Gu SZ, Wu J, Liang QW
 タイトル      VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head.
 雑誌        Genet Mol Res 14:13688-98 (2015)
 DOI:10.4238/2015.October.28.31","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01529"">H01529</a>","大腿骨頭壊死症
 下位グループ    レッグ・カルベ・ペルテス病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01526"">H01526</a>]","Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01526"">H01526</a>] is a particular type of femoral head necrosis occurring in children. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.",,"(ANFH1) COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]
 (ANFH2) TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]
 SERPINE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5054"">5054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03982"">K03982</a>]
 VEGFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]
 NOS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4846"">4846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13242"">K13242</a>]
 ABCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5243"">5243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05658"">K05658</a>]",,,,,,"ICD-11: FB82.1
 ICD-10: M87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005271"">D005271</a>
 OMIM: <a href=""https://www.omim.org/entry/608805"">608805</a> <a href=""https://www.omim.org/entry/617383"">617383</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15179599"">15179599</a> (COL2A1)
 著者        Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF
 タイトル      Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
 雑誌        Am J Hum Genet 75:310-7 (2004)
 DOI:<a href=""https://doi.org/10.1086/422702"">10.1086/422702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27330106"">27330106</a> (TRPV4)
 著者        Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Seguin C
 タイトル      Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
 雑誌        J Med Genet 53:705-9 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-103829"">10.1136/jmedgenet-2016-103829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23856555"">23856555</a> (SERPINE1)
 著者        Liang XN, Xie L, Cheng JW, Tan Z, Yao J, Liu Q, Su W, Qin X, Zhao JM
 タイトル      Association between PAI-1 4G/5G Polymorphisms and osteonecrosis of femoral head: a meta-analysis.
 雑誌        Thromb Res 132:158-63 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.thromres.2013.06.023"">10.1016/j.thromres.2013.06.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26535684"">26535684</a> (VEGFA <a href=""https://pubmed.ncbi.nlm.nih.gov/NOS3"">NOS3</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ABCB1)"">ABCB1)</a>
 著者        Zhou ZC, Gu SZ, Wu J, Liang QW
 タイトル      VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head.
 雑誌        Genet Mol Res 14:13688-98 (2015)
 DOI:<a href=""https://doi.org/10.4238/2015.October.28.31"">10.4238/2015.October.28.31</a>"
H01530,"ピンタ;
 カラート",,,"Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Pinta, also known as mal del pinto or carate, is the most benign of the endemic treponematoses since it affects only the skin. This mild disease is characterized solely by alterations in skin color. Pinta is still prevalent in remote rural regions in tropical Central and South America.",感染症,,,Treponema carateum,,,,See also H01318 Yaws and H01531 Bejel.,"ICD-11: 1C1E
 ICD-10: A67
 MeSH: D010874","PMID:10330597
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:10.1016/S0738-081X(99)00007-3
 PMID:26304920
 著者        Stamm LV
 タイトル      Pinta: Latin America's Forgotten Disease?
 雑誌        Am J Trop Med Hyg 93:901-3 (2015)
 DOI:10.4269/ajtmh.15-0329
 PMID:11825779 (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:10.1016/S1286-4579(01)01513-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01530"">H01530</a>","ピンタ;
 カラート","Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Pinta, also known as mal del pinto or carate, is the most benign of the endemic treponematoses since it affects only the skin. This mild disease is characterized solely by alterations in skin color. Pinta is still prevalent in remote rural regions in tropical Central and South America.",,,Treponema carateum,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01318"">H01318</a> Yaws and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01531"">H01531</a> Bejel.","ICD-11: 1C1E
 ICD-10: A67
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010874"">D010874</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10330597"">10330597</a>
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0738-081X(99)00007-3"">10.1016/S0738-081X(99)00007-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26304920"">26304920</a>
 著者        Stamm LV
 タイトル      Pinta: Latin America's Forgotten Disease?
 雑誌        Am J Trop Med Hyg 93:901-3 (2015)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.15-0329"">10.4269/ajtmh.15-0329</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11825779"">11825779</a> (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(01)01513-1"">10.1016/S1286-4579(01)01513-1</a>"
H01531,"ベジェル;
 地方病性梅毒",,,"Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and bejel. Bejel, also known as endemic syphilis, is endemic in many parts of the world including Saudi Arabia. The disease usually occurs in patients living in primitive environments with low standard of hygiene. Clinical manifestations of bejel are divided into various stages. Patches on the mucous membranes, angular stomatitis, nonitchy skin eruptions, and generalized lymphadenopathy are the most important early manifestations. In the late stage, affection of skin, bones, and cartilage may lead to severe destruction, especially of the nose and palate.",感染症,,,Treponema pallidum subsp. endemicum,,,,See also H01318 Yaws and H01530 Pinta.,"ICD-11: 1C1F
 ICD-10: A65
 MeSH: D014211","PMID:10330597
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:10.1016/S0738-081X(99)00007-3
 PMID:2249914
 著者        Tabbara KF
 タイトル      Endemic syphilis (Bejel).
 雑誌        Int Ophthalmol 14:379-81 (1990)
 DOI:10.1007/BF00163561
 PMID:11825779 (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:10.1016/S1286-4579(01)01513-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01531"">H01531</a>","ベジェル;
 地方病性梅毒","Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and bejel. Bejel, also known as endemic syphilis, is endemic in many parts of the world including Saudi Arabia. The disease usually occurs in patients living in primitive environments with low standard of hygiene. Clinical manifestations of bejel are divided into various stages. Patches on the mucous membranes, angular stomatitis, nonitchy skin eruptions, and generalized lymphadenopathy are the most important early manifestations. In the late stage, affection of skin, bones, and cartilage may lead to severe destruction, especially of the nose and palate.",,,Treponema pallidum subsp. endemicum,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01318"">H01318</a> Yaws and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01530"">H01530</a> Pinta.","ICD-11: 1C1F
 ICD-10: A65
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014211"">D014211</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10330597"">10330597</a>
 著者        Engelkens HJ, Vuzevski VD, Stolz E
 タイトル      Nonvenereal treponematoses in tropical countries.
 雑誌        Clin Dermatol 17:143-52; discussion 105-6 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0738-081X(99)00007-3"">10.1016/S0738-081X(99)00007-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2249914"">2249914</a>
 著者        Tabbara KF
 タイトル      Endemic syphilis (Bejel).
 雑誌        Int Ophthalmol 14:379-81 (1990)
 DOI:<a href=""https://doi.org/10.1007/BF00163561"">10.1007/BF00163561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11825779"">11825779</a> (pathogen)
 著者        Antal GM, Lukehart SA, Meheus AZ
 タイトル      The endemic treponematoses.
 雑誌        Microbes Infect 4:83-94 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1286-4579(01)01513-1"">10.1016/S1286-4579(01)01513-1</a>"
H01532,"痛風
 下位グループ    血清尿酸値量的形質座位 (UAQTL)
 痛風を伴うD-乳酸尿症 (DLACD)",,,"Gout is a kind of arthritis associated with hyperuricemia. It is triggered due to precipitation and deposition of inflammatory monosodium urate crystals in synovial and other tissues, accompanied by severe pain. The most common symptoms include swelling, tenderness, warmth and redness. Mostly, the joint at the base of the big toe is affected, gout progresses with more frequent attacks that involve multiple joints. Joint pain that used to resolve in a week to 10 days could become a milder, but constant pain. Eventually, untreated gout can cause other comorbidities such as high blood pressure, diabetes, chronic kidney disease and cardiovascular disease. The incidence of the disease is more common in 40s men than women, but gout in women after menopause appears increased risk. Recently, the onset in 20s increases. The development of gout is not only associated with sex, age, race and genetics, but also diet and lifestyle are contributed to increasing prevalence of the disease. Epidemiology studies reported that the excessive intake of alcohol and purine rich food, which excessively produce uric acid, leads to accumulation of uric acid.",筋骨格疾患,,"(GOUT1) ABCG2 [HSA:9429] [KO:K05681]
 (GOUT2) SLC2A9 [HSA:56606] [KO:K08146]
 (GOUT4) SLC17A3 [HSA:10786] [KO:K12300]
 (GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102]",,"Alcohol, Purine rich food, Fructose/Sugar-sweetened beverages",,"アスピリン [DR:D00109]
 インドメタシン [DR:D00141]
 ナプロキセン [DR:D00118]
 ケトプロフェン [DR:D00132]
 オキサプロジン [DR:D00463]
 プラノプロフェン [DR:D01578]
 ブコローム [DR:D01661]
 コルヒチン [DR:D00570]
 プロベネシド [DR:D00475]
 アロプリノール [DR:D00224]
 フェブキソスタット [DR:D01206]
 ベンズブロマロン [DR:D01056]
 クエン酸カリウム・クエン酸ナトリウム [DR:D05624]
 トピロキソスタット [DR:D09786]
 ドチヌラド [DR:D11071]
 大防風湯 [DR:D07007]",,"ICD-11: FA25
 ICD-10: M10
 MeSH: D006073
 OMIM: 138900 612076 612671 245450","PMID:25151572
 著者        Dalbeth N, Lauterio TJ, Wolfe HR
 タイトル      Mechanism of action of colchicine in the treatment of gout.
 雑誌        Clin Ther 36:1465-79 (2014)
 DOI:10.1016/j.clinthera.2014.07.017
 PMID:21894471
 著者        Sunkureddi P
 タイトル      Gouty arthritis: understanding the disease state and management options in primary care.
 雑誌        Adv Ther 28:748-60 (2011)
 DOI:10.1007/s12325-011-0058-5
 PMID:26977282
 著者        Bernal JA, Quilis N, Andres M, Sivera F, Pascual E
 タイトル      Gout: optimizing treatment to achieve a disease cure.
 雑誌        Ther Adv Chronic Dis 7:135-44 (2016)
 DOI:10.1177/2040622315618393
 PMID:25437279
 著者        MacFarlane LA, Kim SC
 タイトル      Gout: a review of nonmodifiable and modifiable risk factors.
 雑誌        Rheum Dis Clin North Am 40:581-604 (2014)
 DOI:10.1016/j.rdc.2014.07.002
 PMID:18834626 (ABCG2 SLC2A9 SLC17A3)
 著者        Dehghan A, Kottgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS
 タイトル      Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
 雑誌        Lancet 372:1953-61 (2008)
 DOI:10.1016/S0140-6736(08)61343-4
 PMID:31638601 (LDHD)
 著者        Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS
 タイトル      Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
 雑誌        J Clin Invest 129:5163-5168 (2019)
 DOI:10.1172/JCI129057","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01532"">H01532</a>","痛風
 下位グループ    血清尿酸値量的形質座位 (UAQTL)
 痛風を伴うD-乳酸尿症 (DLACD)","Gout is a kind of arthritis associated with hyperuricemia. It is triggered due to precipitation and deposition of inflammatory monosodium urate crystals in synovial and other tissues, accompanied by severe pain. The most common symptoms include swelling, tenderness, warmth and redness. Mostly, the joint at the base of the big toe is affected, gout progresses with more frequent attacks that involve multiple joints. Joint pain that used to resolve in a week to 10 days could become a milder, but constant pain. Eventually, untreated gout can cause other comorbidities such as high blood pressure, diabetes, chronic kidney disease and cardiovascular disease. The incidence of the disease is more common in 40s men than women, but gout in women after menopause appears increased risk. Recently, the onset in 20s increases. The development of gout is not only associated with sex, age, race and genetics, but also diet and lifestyle are contributed to increasing prevalence of the disease. Epidemiology studies reported that the excessive intake of alcohol and purine rich food, which excessively produce uric acid, leads to accumulation of uric acid.",,"(GOUT1) ABCG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9429"">9429</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05681"">K05681</a>]
 (GOUT2) SLC2A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56606"">56606</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08146"">K08146</a>]
 (GOUT4) SLC17A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10786"">10786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12300"">K12300</a>]
 (GOUT5/DLACD) LDHD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197257"">197257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00102"">K00102</a>]",,"Alcohol, Purine rich food, Fructose/Sugar-sweetened beverages",,"アスピリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00109"">D00109</a>]
 インドメタシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00141"">D00141</a>]
 ナプロキセン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00118"">D00118</a>]
 ケトプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00132"">D00132</a>]
 オキサプロジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00463"">D00463</a>]
 プラノプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01578"">D01578</a>]
 ブコローム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01661"">D01661</a>]
 コルヒチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00570"">D00570</a>]
 プロベネシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00475"">D00475</a>]
 アロプリノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00224"">D00224</a>]
 フェブキソスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01206"">D01206</a>]
 ベンズブロマロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01056"">D01056</a>]
 クエン酸カリウム・クエン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05624"">D05624</a>]
 トピロキソスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09786"">D09786</a>]
 ドチヌラド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11071"">D11071</a>]
 大防風湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07007"">D07007</a>]",,"ICD-11: FA25
 ICD-10: M10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006073"">D006073</a>
 OMIM: <a href=""https://www.omim.org/entry/138900"">138900</a> <a href=""https://www.omim.org/entry/612076"">612076</a> <a href=""https://www.omim.org/entry/612671"">612671</a> <a href=""https://www.omim.org/entry/245450"">245450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25151572"">25151572</a>
 著者        Dalbeth N, Lauterio TJ, Wolfe HR
 タイトル      Mechanism of action of colchicine in the treatment of gout.
 雑誌        Clin Ther 36:1465-79 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.clinthera.2014.07.017"">10.1016/j.clinthera.2014.07.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21894471"">21894471</a>
 著者        Sunkureddi P
 タイトル      Gouty arthritis: understanding the disease state and management options in primary care.
 雑誌        Adv Ther 28:748-60 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12325-011-0058-5"">10.1007/s12325-011-0058-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26977282"">26977282</a>
 著者        Bernal JA, Quilis N, Andres M, Sivera F, Pascual E
 タイトル      Gout: optimizing treatment to achieve a disease cure.
 雑誌        Ther Adv Chronic Dis 7:135-44 (2016)
 DOI:<a href=""https://doi.org/10.1177/2040622315618393"">10.1177/2040622315618393</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25437279"">25437279</a>
 著者        MacFarlane LA, Kim SC
 タイトル      Gout: a review of nonmodifiable and modifiable risk factors.
 雑誌        Rheum Dis Clin North Am 40:581-604 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.rdc.2014.07.002"">10.1016/j.rdc.2014.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18834626"">18834626</a> (ABCG2 <a href=""https://pubmed.ncbi.nlm.nih.gov/SLC2A9"">SLC2A9</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/SLC17A3)"">SLC17A3)</a>
 著者        Dehghan A, Kottgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS
 タイトル      Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
 雑誌        Lancet 372:1953-61 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)61343-4"">10.1016/S0140-6736(08)61343-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31638601"">31638601</a> (LDHD)
 著者        Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS
 タイトル      Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
 雑誌        J Clin Invest 129:5163-5168 (2019)
 DOI:<a href=""https://doi.org/10.1172/JCI129057"">10.1172/JCI129057</a>"
H01533,"日本脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Japanese encephalitis is an infection of the central nervous system caused by Japanese encephalitis virus (JEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. JEV was first isolated in 1924 in Japan.",感染症,,,Japanese encephalitis virus [GN:T40052],,,日本脳炎ワクチン [DR:D05313],,"ICD-11: 1C85
 ICD-10: A83.0
 MeSH: D004672","PMID:19067628
 著者        van den Hurk AF, Ritchie SA, Mackenzie JS
 タイトル      Ecology and geographical expansion of Japanese encephalitis virus.
 雑誌        Annu Rev Entomol 54:17-35 (2009)
 DOI:10.1146/annurev.ento.54.110807.090510
 PMID:11930023
 著者        Tiroumourougane SV, Raghava P, Srinivasan S
 タイトル      Japanese viral encephalitis.
 雑誌        Postgrad Med J 78:205-15 (2002)
 DOI:10.1136/pmj.78.918.205
 PMID:22084515
 著者        Campbell GL, Hills SL, Fischer M, Jacobson JA, Hoke CH, Hombach JM, Marfin AA, Solomon T, Tsai TF, Tsu VD, Ginsburg AS
 タイトル      Estimated global incidence of Japanese encephalitis: a systematic review.
 雑誌        Bull World Health Organ 89:766-74, 774A-774E (2011)
 DOI:10.2471/BLT.10.085233","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01533"">H01533</a>","日本脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Japanese encephalitis is an infection of the central nervous system caused by Japanese encephalitis virus (JEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. JEV was first isolated in 1924 in Japan.",,,"Japanese encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40052"">T40052</a>]",,,"日本脳炎ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05313"">D05313</a>]",,"ICD-11: 1C85
 ICD-10: A83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004672"">D004672</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19067628"">19067628</a>
 著者        van den Hurk AF, Ritchie SA, Mackenzie JS
 タイトル      Ecology and geographical expansion of Japanese encephalitis virus.
 雑誌        Annu Rev Entomol 54:17-35 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.ento.54.110807.090510"">10.1146/annurev.ento.54.110807.090510</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11930023"">11930023</a>
 著者        Tiroumourougane SV, Raghava P, Srinivasan S
 タイトル      Japanese viral encephalitis.
 雑誌        Postgrad Med J 78:205-15 (2002)
 DOI:<a href=""https://doi.org/10.1136/pmj.78.918.205"">10.1136/pmj.78.918.205</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22084515"">22084515</a>
 著者        Campbell GL, Hills SL, Fischer M, Jacobson JA, Hoke CH, Hombach JM, Marfin AA, Solomon T, Tsai TF, Tsu VD, Ginsburg AS
 タイトル      Estimated global incidence of Japanese encephalitis: a systematic review.
 雑誌        Bull World Health Organ 89:766-74, 774A-774E (2011)
 DOI:<a href=""https://doi.org/10.2471/BLT.10.085233"">10.2471/BLT.10.085233</a>"
H01534,"西部ウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Western equine encephalitis is an infection of the central nervous system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WEEV was first isolated in 1930 in California, USA.",感染症,,,Western equine encephalitis virus [GN:T40053],,,,,"ICD-11: 1C83
 ICD-10: A83.1
 MeSH: D020241","PMID:20631130
 著者        Sherman MB, Weaver SC
 タイトル      Structure of the recombinant alphavirus Western equine encephalitis virus revealed by cryoelectron microscopy.
 雑誌        J Virol 84:9775-82 (2010)
 DOI:10.1128/JVI.00876-10
 PMID:24899192
 著者        Bergren NA, Auguste AJ, Forrester NL, Negi SS, Braun WA, Weaver SC
 タイトル      Western equine encephalitis virus: evolutionary analysis of a declining alphavirus based on complete genome sequences.
 雑誌        J Virol 88:9260-7 (2014)
 DOI:10.1128/JVI.01463-14","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01534"">H01534</a>","西部ウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Western equine encephalitis is an infection of the central nervous system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WEEV was first isolated in 1930 in California, USA.",,,"Western equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40053"">T40053</a>]",,,,,"ICD-11: 1C83
 ICD-10: A83.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020241"">D020241</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20631130"">20631130</a>
 著者        Sherman MB, Weaver SC
 タイトル      Structure of the recombinant alphavirus Western equine encephalitis virus revealed by cryoelectron microscopy.
 雑誌        J Virol 84:9775-82 (2010)
 DOI:<a href=""https://doi.org/10.1128/JVI.00876-10"">10.1128/JVI.00876-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24899192"">24899192</a>
 著者        Bergren NA, Auguste AJ, Forrester NL, Negi SS, Braun WA, Weaver SC
 タイトル      Western equine encephalitis virus: evolutionary analysis of a declining alphavirus based on complete genome sequences.
 雑誌        J Virol 88:9260-7 (2014)
 DOI:<a href=""https://doi.org/10.1128/JVI.01463-14"">10.1128/JVI.01463-14</a>"
H01535,"東部ウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Eastern equine encephalitis is an infection of the central nervous system caused by Eastern equine encephalitis virus (EEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. EEEV was first isolated in 1933 in Virginia, USA.",感染症,,,Eastern equine encephalitis virus [GN:T40054],,,,,"ICD-11: 1C84
 ICD-10: A83.2
 MeSH: D020242","PMID:19889755
 著者        Arrigo NC, Adams AP, Weaver SC
 タイトル      Evolutionary patterns of eastern equine encephalitis virus in North versus South America suggest ecological differences and taxonomic revision.
 雑誌        J Virol 84:1014-25 (2010)
 DOI:10.1128/JVI.01586-09
 PMID:26740855
 著者        Mukerji SS, Lam AD, Wilson MR
 タイトル      Eastern Equine Encephalitis Treated With Intravenous Immunoglobulins.
 雑誌        Neurohospitalist 6:29-31 (2016)
 DOI:10.1177/1941874415578533
 PMID:25070997
 著者        Bingham AM, Burkett-Cadena ND, Hassan HK, McClure CJ, Unnasch TR
 タイトル      Field investigations of winter transmission of eastern equine encephalitis virus in Florida.
 雑誌        Am J Trop Med Hyg 91:685-93 (2014)
 DOI:10.4269/ajtmh.14-0081","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01535"">H01535</a>","東部ウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Eastern equine encephalitis is an infection of the central nervous system caused by Eastern equine encephalitis virus (EEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. EEEV was first isolated in 1933 in Virginia, USA.",,,"Eastern equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40054"">T40054</a>]",,,,,"ICD-11: 1C84
 ICD-10: A83.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020242"">D020242</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19889755"">19889755</a>
 著者        Arrigo NC, Adams AP, Weaver SC
 タイトル      Evolutionary patterns of eastern equine encephalitis virus in North versus South America suggest ecological differences and taxonomic revision.
 雑誌        J Virol 84:1014-25 (2010)
 DOI:<a href=""https://doi.org/10.1128/JVI.01586-09"">10.1128/JVI.01586-09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26740855"">26740855</a>
 著者        Mukerji SS, Lam AD, Wilson MR
 タイトル      Eastern Equine Encephalitis Treated With Intravenous Immunoglobulins.
 雑誌        Neurohospitalist 6:29-31 (2016)
 DOI:<a href=""https://doi.org/10.1177/1941874415578533"">10.1177/1941874415578533</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25070997"">25070997</a>
 著者        Bingham AM, Burkett-Cadena ND, Hassan HK, McClure CJ, Unnasch TR
 タイトル      Field investigations of winter transmission of eastern equine encephalitis virus in Florida.
 雑誌        Am J Trop Med Hyg 91:685-93 (2014)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.14-0081"">10.4269/ajtmh.14-0081</a>"
H01536,"マレーバレー脳炎;
 オーストラリア脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Murray Valley encephalitis, previously known as Australian encephalitis, is an infection of the central nervous system caused by Murray Valley encephalitis virus (MVEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. MVEV was first isolated in 1951 in Australia.",感染症,,,Murray Valley encephalitis virus [GN:T40055],,,,,"ICD-11: 1C88
 ICD-10: A83.4","PMID:22432670
 著者        Knox J, Cowan RU, Doyle JS, Ligtermoet MK, Archer JS, Burrow JN, Tong SY, Currie BJ, Mackenzie JS, Smith DW, Catton M, Moran RJ, Aboltins CA, Richards JS
 タイトル      Murray Valley encephalitis: a review of clinical features, diagnosis and treatment.
 雑誌        Med J Aust 196:322-6 (2012)
 DOI:10.5694/mja11.11026
 PMID:27086158
 著者        Cella E, Gabrielli I, Zehender G, Giovanetti M, Lo Presti A, Lai A, Dicuonzo G, Angeletti S, Salemi M, Ciccozzi M
 タイトル      Phylogeny of Murray Valley encephalitis virus in Australia and Papua New Guinea.
 雑誌        Asian Pac J Trop Med 9:385-9 (2016)
 DOI:10.1016/j.apjtm.2016.03.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01536"">H01536</a>","マレーバレー脳炎;
 オーストラリア脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Murray Valley encephalitis, previously known as Australian encephalitis, is an infection of the central nervous system caused by Murray Valley encephalitis virus (MVEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. MVEV was first isolated in 1951 in Australia.",,,"Murray Valley encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40055"">T40055</a>]",,,,,"ICD-11: 1C88
 ICD-10: A83.4","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22432670"">22432670</a>
 著者        Knox J, Cowan RU, Doyle JS, Ligtermoet MK, Archer JS, Burrow JN, Tong SY, Currie BJ, Mackenzie JS, Smith DW, Catton M, Moran RJ, Aboltins CA, Richards JS
 タイトル      Murray Valley encephalitis: a review of clinical features, diagnosis and treatment.
 雑誌        Med J Aust 196:322-6 (2012)
 DOI:<a href=""https://doi.org/10.5694/mja11.11026"">10.5694/mja11.11026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27086158"">27086158</a>
 著者        Cella E, Gabrielli I, Zehender G, Giovanetti M, Lo Presti A, Lai A, Dicuonzo G, Angeletti S, Salemi M, Ciccozzi M
 タイトル      Phylogeny of Murray Valley encephalitis virus in Australia and Papua New Guinea.
 雑誌        Asian Pac J Trop Med 9:385-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.apjtm.2016.03.006"">10.1016/j.apjtm.2016.03.006</a>"
H01537,"ラクロス脳炎;
 カリフォルニア脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"La Crosse encephalitis is an infection of the central nervous system caused by La Crosse virus (LACV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes mosquitoes. LACV belongs to the serogroup of California encephalitis virus, which was first isolated in 1943 in California.",感染症,,,La Crosse virus [GN:T40056],,,,,"ICD-11: 1C8D
 ICD-10: A83.5
 MeSH: D004670","PMID:11384526
 著者        Eldridge BF, Glaser C, Pedrin RE, Chiles RE
 タイトル      The first reported case of California encephalitis in more than 50 years.
 雑誌        Emerg Infect Dis 7:451-2 (2001)
 DOI:10.3201/eid0703.010316
 PMID:3613
 著者        Balfour HH Jr, Edelman CK, Bauer H, Siem RA
 タイトル      California arbovirus (La Crosse) infections. III. Epidemiology of California encephalitis in Minnesota.
 雑誌        J Infect Dis 133:293-301 (1976)
 DOI:10.1093/infdis/133.3.293
 PMID:27086496
 著者        Teleron AL, Rose BK, Williams DM, Kemper SE, McJunkin JE
 タイトル      La Crosse Encephalitis: An Adult Case Series.
 雑誌        Am J Med 129:881-4 (2016)
 DOI:10.1016/j.amjmed.2016.03.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01537"">H01537</a>","ラクロス脳炎;
 カリフォルニア脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","La Crosse encephalitis is an infection of the central nervous system caused by La Crosse virus (LACV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes mosquitoes. LACV belongs to the serogroup of California encephalitis virus, which was first isolated in 1943 in California.",,,"La Crosse virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40056"">T40056</a>]",,,,,"ICD-11: 1C8D
 ICD-10: A83.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004670"">D004670</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11384526"">11384526</a>
 著者        Eldridge BF, Glaser C, Pedrin RE, Chiles RE
 タイトル      The first reported case of California encephalitis in more than 50 years.
 雑誌        Emerg Infect Dis 7:451-2 (2001)
 DOI:<a href=""https://doi.org/10.3201/eid0703.010316"">10.3201/eid0703.010316</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3613"">3613</a>
 著者        Balfour HH Jr, Edelman CK, Bauer H, Siem RA
 タイトル      California arbovirus (La Crosse) infections. III. Epidemiology of California encephalitis in Minnesota.
 雑誌        J Infect Dis 133:293-301 (1976)
 DOI:<a href=""https://doi.org/10.1093/infdis/133.3.293"">10.1093/infdis/133.3.293</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27086496"">27086496</a>
 著者        Teleron AL, Rose BK, Williams DM, Kemper SE, McJunkin JE
 タイトル      La Crosse Encephalitis: An Adult Case Series.
 雑誌        Am J Med 129:881-4 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.amjmed.2016.03.021"">10.1016/j.amjmed.2016.03.021</a>"
H01538,"ヘンドラウイルス感染症
 上位グループ    ヘニパウイルス感染症 [DS:H00391]",,,"Hendra virus (HeV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. HeV is a zoonotic virus that emerged in 1994 in the Brisbane suburb of Hendra, Queensland, Australia. HeV causes severe respiratory and neurological disease. The known natural reservoir hosts of HeV are several species of pteropid fruit bats.",感染症,,,Hendra virus [GN:T40046],,,,,"ICD-11: 1D63
 ICD-10: B33.8
 MeSH: D045464","PMID:27154393
 著者        Broder CC, Weir DL, Reid PA
 タイトル      Hendra virus and Nipah virus animal vaccines.
 雑誌        Vaccine 34:3525-34 (2016)
 DOI:10.1016/j.vaccine.2016.03.075
 PMID:25281398
 著者        Middleton D
 タイトル      Hendra virus.
 雑誌        Vet Clin North Am Equine Pract 30:579-89 (2014)
 DOI:10.1016/j.cveq.2014.08.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01538"">H01538</a>","ヘンドラウイルス感染症
 上位グループ    ヘニパウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00391"">H00391</a>]","Hendra virus (HeV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. HeV is a zoonotic virus that emerged in 1994 in the Brisbane suburb of Hendra, Queensland, Australia. HeV causes severe respiratory and neurological disease. The known natural reservoir hosts of HeV are several species of pteropid fruit bats.",,,"Hendra virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40046"">T40046</a>]",,,,,"ICD-11: 1D63
 ICD-10: B33.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045464"">D045464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27154393"">27154393</a>
 著者        Broder CC, Weir DL, Reid PA
 タイトル      Hendra virus and Nipah virus animal vaccines.
 雑誌        Vaccine 34:3525-34 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2016.03.075"">10.1016/j.vaccine.2016.03.075</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25281398"">25281398</a>
 著者        Middleton D
 タイトル      Hendra virus.
 雑誌        Vet Clin North Am Equine Pract 30:579-89 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.cveq.2014.08.004"">10.1016/j.cveq.2014.08.004</a>"
H01539,"ニパウイルス感染症
 上位グループ    ヘニパウイルス感染症 [DS:H00391]",,,"Nipah virus (NiV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. NiV is a zoonotic virus that emerged in Malaysia and Singapore in 1998-1999 causing a large outbreak of encephalitis with high mortality in people and also respiratory disease in pigs which served as amplifying hosts. The known natural reservoir hosts of NiV are several species of pteropid fruit bats.",感染症,,,Nipah virus [GN:T40047],,,,,"ICD-11: 1D63
 ICD-10: B33.8
 MeSH: D045464","PMID:27154393
 著者        Broder CC, Weir DL, Reid PA
 タイトル      Hendra virus and Nipah virus animal vaccines.
 雑誌        Vaccine 34:3525-34 (2016)
 DOI:10.1016/j.vaccine.2016.03.075","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01539"">H01539</a>","ニパウイルス感染症
 上位グループ    ヘニパウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00391"">H00391</a>]","Nipah virus (NiV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. NiV is a zoonotic virus that emerged in Malaysia and Singapore in 1998-1999 causing a large outbreak of encephalitis with high mortality in people and also respiratory disease in pigs which served as amplifying hosts. The known natural reservoir hosts of NiV are several species of pteropid fruit bats.",,,"Nipah virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40047"">T40047</a>]",,,,,"ICD-11: 1D63
 ICD-10: B33.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D045464"">D045464</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27154393"">27154393</a>
 著者        Broder CC, Weir DL, Reid PA
 タイトル      Hendra virus and Nipah virus animal vaccines.
 雑誌        Vaccine 34:3525-34 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.vaccine.2016.03.075"">10.1016/j.vaccine.2016.03.075</a>"
H01540,"チクングニア熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Chikungunya fever is an infectious disease caused by Chikungunya virus (CHIKV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. CHIKV was first recognized as a human pathogen during the 1950s in Africa, but it may have caused outbreaks from as early as the 1700s.",感染症,,,Chikungunya virus [GN:T40026],,,,,"ICD-11: 1D40
 ICD-10: A92.0
 MeSH: D065632","PMID:19663604
 著者        Staples JE, Breiman RF, Powers AM
 タイトル      Chikungunya fever: an epidemiological review of a re-emerging infectious disease.
 雑誌        Clin Infect Dis 49:942-8 (2009)
 DOI:10.1086/605496
 PMID:23811281
 著者        Thiberville SD, Moyen N, Dupuis-Maguiraga L, Nougairede A, Gould EA, Roques P, de Lamballerie X
 タイトル      Chikungunya fever: epidemiology, clinical syndrome, pathogenesis and therapy.
 雑誌        Antiviral Res 99:345-70 (2013)
 DOI:10.1016/j.antiviral.2013.06.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01540"">H01540</a>","チクングニア熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Chikungunya fever is an infectious disease caused by Chikungunya virus (CHIKV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. CHIKV was first recognized as a human pathogen during the 1950s in Africa, but it may have caused outbreaks from as early as the 1700s.",,,"Chikungunya virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40026"">T40026</a>]",,,,,"ICD-11: 1D40
 ICD-10: A92.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065632"">D065632</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19663604"">19663604</a>
 著者        Staples JE, Breiman RF, Powers AM
 タイトル      Chikungunya fever: an epidemiological review of a re-emerging infectious disease.
 雑誌        Clin Infect Dis 49:942-8 (2009)
 DOI:<a href=""https://doi.org/10.1086/605496"">10.1086/605496</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23811281"">23811281</a>
 著者        Thiberville SD, Moyen N, Dupuis-Maguiraga L, Nougairede A, Gould EA, Roques P, de Lamballerie X
 タイトル      Chikungunya fever: epidemiology, clinical syndrome, pathogenesis and therapy.
 雑誌        Antiviral Res 99:345-70 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2013.06.009"">10.1016/j.antiviral.2013.06.009</a>"
H01541,"アルゼンチン出血熱
 上位グループ    南米出血熱 [DS:H00385]
 アレナウイルス性出血熱 [DS:H02173]",,,"Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated in 1958 in Argentine.",感染症,,,Junin mammarenavirus [GN:T40005],,,,,"ICD-11: 1D61.0
 ICD-10: A96.0
 MeSH: D006478","PMID:18054395
 著者        Enria DA, Briggiler AM, Sanchez Z
 タイトル      Treatment of Argentine hemorrhagic fever.
 雑誌        Antiviral Res 78:132-9 (2008)
 DOI:10.1016/j.antiviral.2007.10.010
 PMID:21572983
 著者        Groseth A, Hoenen T, Weber M, Wolff S, Herwig A, Kaufmann A, Becker S
 タイトル      Tacaribe virus but not junin virus infection induces cytokine release from primary human monocytes and macrophages.
 雑誌        PLoS Negl Trop Dis 5:e1137 (2011)
 DOI:10.1371/journal.pntd.0001137","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01541"">H01541</a>","アルゼンチン出血熱
 上位グループ    南米出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>]
 アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated in 1958 in Argentine.",,,"Junin mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40005"">T40005</a>]",,,,,"ICD-11: 1D61.0
 ICD-10: A96.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006478"">D006478</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18054395"">18054395</a>
 著者        Enria DA, Briggiler AM, Sanchez Z
 タイトル      Treatment of Argentine hemorrhagic fever.
 雑誌        Antiviral Res 78:132-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.antiviral.2007.10.010"">10.1016/j.antiviral.2007.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21572983"">21572983</a>
 著者        Groseth A, Hoenen T, Weber M, Wolff S, Herwig A, Kaufmann A, Becker S
 タイトル      Tacaribe virus but not junin virus infection induces cytokine release from primary human monocytes and macrophages.
 雑誌        PLoS Negl Trop Dis 5:e1137 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pntd.0001137"">10.1371/journal.pntd.0001137</a>"
H01542,"ボリビア出血熱
 上位グループ    南米出血熱 [DS:H00385]
 アレナウイルス性出血熱 [DS:H02173]",,,"Bolivian hemorrhagic fever is an infectious disease caused by Machupo virus (MACV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. MACV was first isolated in 1963 in Bolivia.",感染症,,,Machupo mammarenavirus [GN:T40006],,,,,"ICD-11: 1D61.1
 ICD-10: A96.1
 MeSH: D006478","PMID:24636947
 著者        Patterson M, Grant A, Paessler S
 タイトル      Epidemiology and pathogenesis of Bolivian hemorrhagic fever.
 雑誌        Curr Opin Virol 5:82-90 (2014)
 DOI:10.1016/j.coviro.2014.02.007
 PMID:19788833
 著者        Aguilar PV, Camargo W, Vargas J, Guevara C, Roca Y, Felices V, Laguna-Torres VA, Tesh R, Ksiazek TG, Kochel TJ
 タイトル      Reemergence of Bolivian hemorrhagic fever, 2007-2008.
 雑誌        Emerg Infect Dis 15:1526-8 (2009)
 DOI:10.3201/eid1509.090017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01542"">H01542</a>","ボリビア出血熱
 上位グループ    南米出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>]
 アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Bolivian hemorrhagic fever is an infectious disease caused by Machupo virus (MACV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. MACV was first isolated in 1963 in Bolivia.",,,"Machupo mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40006"">T40006</a>]",,,,,"ICD-11: 1D61.1
 ICD-10: A96.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006478"">D006478</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24636947"">24636947</a>
 著者        Patterson M, Grant A, Paessler S
 タイトル      Epidemiology and pathogenesis of Bolivian hemorrhagic fever.
 雑誌        Curr Opin Virol 5:82-90 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.coviro.2014.02.007"">10.1016/j.coviro.2014.02.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19788833"">19788833</a>
 著者        Aguilar PV, Camargo W, Vargas J, Guevara C, Roca Y, Felices V, Laguna-Torres VA, Tesh R, Ksiazek TG, Kochel TJ
 タイトル      Reemergence of Bolivian hemorrhagic fever, 2007-2008.
 雑誌        Emerg Infect Dis 15:1526-8 (2009)
 DOI:<a href=""https://doi.org/10.3201/eid1509.090017"">10.3201/eid1509.090017</a>"
H01543,"ベネズエラ出血熱
 上位グループ    南米出血熱 [DS:H00385]
 アレナウイルス性出血熱 [DS:H02173]",,,"Venezuelan hemorrhagic fever is an infectious disease caused by Guanarito virus (GTOV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. GTOV was first isolated in 1989 in Venezuela.",感染症,,,Guanarito mammarenavirus [GN:T40007],,,,,"ICD-11: 1D61.3
 ICD-10: A96.8","PMID:7840443
 著者        Tesh RB
 タイトル      The emerging epidemiology of Venezuelan hemorrhagic fever and Oropouche fever in tropical South America.
 雑誌        Ann N Y Acad Sci 740:129-37 (1994)
 DOI:10.1111/j.1749-6632.1994.tb19863.x
 PMID:10479119
 著者        Fulhorst CF, Ksiazek TG, Peters CJ, Tesh RB
 タイトル      Experimental infection of the cane mouse Zygodontomys brevicauda (family Muridae) with guanarito virus (Arenaviridae), the etiologic agent of Venezuelan hemorrhagic fever.
 雑誌        J Infect Dis 180:966-9 (1999)
 DOI:10.1086/315029","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01543"">H01543</a>","ベネズエラ出血熱
 上位グループ    南米出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>]
 アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Venezuelan hemorrhagic fever is an infectious disease caused by Guanarito virus (GTOV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. GTOV was first isolated in 1989 in Venezuela.",,,"Guanarito mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40007"">T40007</a>]",,,,,"ICD-11: 1D61.3
 ICD-10: A96.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7840443"">7840443</a>
 著者        Tesh RB
 タイトル      The emerging epidemiology of Venezuelan hemorrhagic fever and Oropouche fever in tropical South America.
 雑誌        Ann N Y Acad Sci 740:129-37 (1994)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.1994.tb19863.x"">10.1111/j.1749-6632.1994.tb19863.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10479119"">10479119</a>
 著者        Fulhorst CF, Ksiazek TG, Peters CJ, Tesh RB
 タイトル      Experimental infection of the cane mouse Zygodontomys brevicauda (family Muridae) with guanarito virus (Arenaviridae), the etiologic agent of Venezuelan hemorrhagic fever.
 雑誌        J Infect Dis 180:966-9 (1999)
 DOI:<a href=""https://doi.org/10.1086/315029"">10.1086/315029</a>"
H01544,"ブラジル出血熱
 上位グループ    南米出血熱 [DS:H00385]
 アレナウイルス性出血熱 [DS:H02173]",,,"Brazilian hemorrhagic fever is an infectious disease caused by Sabia virus (SABV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. SABV was first isolated in 1993 in Brazil.",感染症,,,Sabia mammarenavirus [GN:T40008],,,,,"ICD-11: 1D61.Y
 ICD-10: A96.8","PMID:7596373
 著者        Barry M, Russi M, Armstrong L, Geller D, Tesh R, Dembry L, Gonzalez JP, Khan AS, Peters CJ
 タイトル      Brief report: treatment of a laboratory-acquired Sabia virus infection.
 雑誌        N Engl J Med 333:294-6 (1995)
 DOI:10.1056/NEJM199508033330505
 PMID:9018837
 著者        Gandsman EJ, Aaslestad HG, Ouimet TC, Rupp WD
 タイトル      Sabia virus incident at Yale University.
 雑誌        Am Ind Hyg Assoc J 58:51-3 (1997)
 DOI:10.1080/15428119791013080","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01544"">H01544</a>","ブラジル出血熱
 上位グループ    南米出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>]
 アレナウイルス性出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>]","Brazilian hemorrhagic fever is an infectious disease caused by Sabia virus (SABV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. SABV was first isolated in 1993 in Brazil.",,,"Sabia mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40008"">T40008</a>]",,,,,"ICD-11: 1D61.Y
 ICD-10: A96.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7596373"">7596373</a>
 著者        Barry M, Russi M, Armstrong L, Geller D, Tesh R, Dembry L, Gonzalez JP, Khan AS, Peters CJ
 タイトル      Brief report: treatment of a laboratory-acquired Sabia virus infection.
 雑誌        N Engl J Med 333:294-6 (1995)
 DOI:<a href=""https://doi.org/10.1056/NEJM199508033330505"">10.1056/NEJM199508033330505</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9018837"">9018837</a>
 著者        Gandsman EJ, Aaslestad HG, Ouimet TC, Rupp WD
 タイトル      Sabia virus incident at Yale University.
 雑誌        Am Ind Hyg Assoc J 58:51-3 (1997)
 DOI:<a href=""https://doi.org/10.1080/15428119791013080"">10.1080/15428119791013080</a>"
H01545,"オニオニオン熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"O'nyong-nyong fever is an infectious disease caused by O'nyong-nyong virus (ONNV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Anopheles mosquitoes. ONNV was first isolated in 1959 in Uganda.",感染症,,,O'nyong-nyong virus [GN:T40027],,,,,"ICD-11: 1D42
 ICD-10: A92.1
 MeSH: D018354","PMID:16607002
 著者        Vanlandingham DL, Tsetsarkin K, Klingler KA, Hong C, McElroy KL, Lehane MJ, Higgs S
 タイトル      Determinants of vector specificity of o'nyong nyong and chikungunya viruses in Anopheles and Aedes mosquitoes.
 雑誌        Am J Trop Med Hyg 74:663-9 (2006)
 DOI:10.4269/ajtmh.2006.74.663
 PMID:22565316
 著者        Suhrbier A, Jaffar-Bandjee MC, Gasque P
 タイトル      Arthritogenic alphaviruses--an overview.
 雑誌        Nat Rev Rheumatol 8:420-9 (2012)
 DOI:10.1038/nrrheum.2012.64","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01545"">H01545</a>","オニオニオン熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","O'nyong-nyong fever is an infectious disease caused by O'nyong-nyong virus (ONNV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Anopheles mosquitoes. ONNV was first isolated in 1959 in Uganda.",,,"O'nyong-nyong virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40027"">T40027</a>]",,,,,"ICD-11: 1D42
 ICD-10: A92.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018354"">D018354</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16607002"">16607002</a>
 著者        Vanlandingham DL, Tsetsarkin K, Klingler KA, Hong C, McElroy KL, Lehane MJ, Higgs S
 タイトル      Determinants of vector specificity of o'nyong nyong and chikungunya viruses in Anopheles and Aedes mosquitoes.
 雑誌        Am J Trop Med Hyg 74:663-9 (2006)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.2006.74.663"">10.4269/ajtmh.2006.74.663</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22565316"">22565316</a>
 著者        Suhrbier A, Jaffar-Bandjee MC, Gasque P
 タイトル      Arthritogenic alphaviruses--an overview.
 雑誌        Nat Rev Rheumatol 8:420-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/nrrheum.2012.64"">10.1038/nrrheum.2012.64</a>"
H01546,"マヤロ熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Mayaro fever is an infectious disease caused by Mayaro virus (MAYV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Haemagogus mosquitoes. MAYV was first isolated in 1954 in Trinidad.",感染症,,,Mayaro virus [GN:T40032],,,,,"ICD-11: 1D4Y
 ICD-10: A92.8
 MeSH: D018354","PMID:19891877
 著者        Azevedo RS, Silva EV, Carvalho VL, Rodrigues SG, Nunes-Neto JP, Monteiro H, Peixoto VS, Chiang JO, Nunes MR, Vasconcelos PF
 タイトル      Mayaro fever virus, Brazilian Amazon.
 雑誌        Emerg Infect Dis 15:1830-2 (2009)
 DOI:10.3201/eid1511.090461
 PMID:22565316
 著者        Suhrbier A, Jaffar-Bandjee MC, Gasque P
 タイトル      Arthritogenic alphaviruses--an overview.
 雑誌        Nat Rev Rheumatol 8:420-9 (2012)
 DOI:10.1038/nrrheum.2012.64
 PMID:25626645
 著者        Figueiredo ML, Figueiredo LT
 タイトル      Emerging alphaviruses in the Americas: Chikungunya and Mayaro.
 雑誌        Rev Soc Bras Med Trop 47:677-83 (2014)
 DOI:10.1590/0037-8682-0246-2014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01546"">H01546</a>","マヤロ熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Mayaro fever is an infectious disease caused by Mayaro virus (MAYV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Haemagogus mosquitoes. MAYV was first isolated in 1954 in Trinidad.",,,"Mayaro virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40032"">T40032</a>]",,,,,"ICD-11: 1D4Y
 ICD-10: A92.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018354"">D018354</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19891877"">19891877</a>
 著者        Azevedo RS, Silva EV, Carvalho VL, Rodrigues SG, Nunes-Neto JP, Monteiro H, Peixoto VS, Chiang JO, Nunes MR, Vasconcelos PF
 タイトル      Mayaro fever virus, Brazilian Amazon.
 雑誌        Emerg Infect Dis 15:1830-2 (2009)
 DOI:<a href=""https://doi.org/10.3201/eid1511.090461"">10.3201/eid1511.090461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22565316"">22565316</a>
 著者        Suhrbier A, Jaffar-Bandjee MC, Gasque P
 タイトル      Arthritogenic alphaviruses--an overview.
 雑誌        Nat Rev Rheumatol 8:420-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/nrrheum.2012.64"">10.1038/nrrheum.2012.64</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25626645"">25626645</a>
 著者        Figueiredo ML, Figueiredo LT
 タイトル      Emerging alphaviruses in the Americas: Chikungunya and Mayaro.
 雑誌        Rev Soc Bras Med Trop 47:677-83 (2014)
 DOI:<a href=""https://doi.org/10.1590/0037-8682-0246-2014"">10.1590/0037-8682-0246-2014</a>"
H01547,"ベネズエラウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Venezuelan equine encephalitis is an infection of the central nervous system caused by Venezuelan equine encephalitis virus (VEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Ochlerotatus mosquitoes. VEEV was first isolated in 1938 in Venezuela.",感染症,,,Venezuelan equine encephalitis virus [GN:T40028],,,,,"ICD-11: 1C8C
 ICD-10: A92.2
 MeSH: D004685","PMID:23968890
 著者        Taylor KG, Paessler S
 タイトル      Pathogenesis of Venezuelan equine encephalitis.
 雑誌        Vet Microbiol 167:145-50 (2013)
 DOI:10.1016/j.vetmic.2013.07.012
 PMID:14651460
 著者        Weaver SC, Ferro C, Barrera R, Boshell J, Navarro JC
 タイトル      Venezuelan equine encephalitis.
 雑誌        Annu Rev Entomol 49:141-74 (2004)
 DOI:10.1146/annurev.ento.49.061802.123422","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01547"">H01547</a>","ベネズエラウマ脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Venezuelan equine encephalitis is an infection of the central nervous system caused by Venezuelan equine encephalitis virus (VEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Ochlerotatus mosquitoes. VEEV was first isolated in 1938 in Venezuela.",,,"Venezuelan equine encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40028"">T40028</a>]",,,,,"ICD-11: 1C8C
 ICD-10: A92.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004685"">D004685</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23968890"">23968890</a>
 著者        Taylor KG, Paessler S
 タイトル      Pathogenesis of Venezuelan equine encephalitis.
 雑誌        Vet Microbiol 167:145-50 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2013.07.012"">10.1016/j.vetmic.2013.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14651460"">14651460</a>
 著者        Weaver SC, Ferro C, Barrera R, Boshell J, Navarro JC
 タイトル      Venezuelan equine encephalitis.
 雑誌        Annu Rev Entomol 49:141-74 (2004)
 DOI:<a href=""https://doi.org/10.1146/annurev.ento.49.061802.123422"">10.1146/annurev.ento.49.061802.123422</a>"
H01548,"ウエストナイル熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"West Nile fever is an infectious disease caused by West Nile virus (WNV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WNV was first isolated in 1937 in Uganda.",感染症,,CCR5 (susceptibility) [HSA:1234] [KO:K04180],West Nile virus [GN:T40029],,,,,"ICD-11: 1D46
 ICD-10: A92.3
 MeSH: D014901
 MedlinePlus: 007186
 OMIM: 610379","PMID:21994755
 著者        Lim SM, Koraka P, Osterhaus AD, Martina BE
 タイトル      West Nile virus: immunity and pathogenesis.
 雑誌        Viruses 3:811-28 (2011)
 DOI:10.3390/v3060811
 PMID:16418398
 著者        Glass WG, McDermott DH, Lim JK, Lekhong S, Yu SF, Frank WA, Pape J, Cheshier RC, Murphy PM
 タイトル      CCR5 deficiency increases risk of symptomatic West Nile virus infection.
 雑誌        J Exp Med 203:35-40 (2006)
 DOI:10.1084/jem.20051970","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01548"">H01548</a>","ウエストナイル熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","West Nile fever is an infectious disease caused by West Nile virus (WNV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WNV was first isolated in 1937 in Uganda.",,"CCR5 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1234"">1234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04180"">K04180</a>]","West Nile virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40029"">T40029</a>]",,,,,"ICD-11: 1D46
 ICD-10: A92.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014901"">D014901</a>
 MedlinePlus: 007186
 OMIM: <a href=""https://www.omim.org/entry/610379"">610379</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21994755"">21994755</a>
 著者        Lim SM, Koraka P, Osterhaus AD, Martina BE
 タイトル      West Nile virus: immunity and pathogenesis.
 雑誌        Viruses 3:811-28 (2011)
 DOI:<a href=""https://doi.org/10.3390/v3060811"">10.3390/v3060811</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16418398"">16418398</a>
 著者        Glass WG, McDermott DH, Lim JK, Lekhong S, Yu SF, Frank WA, Pape J, Cheshier RC, Murphy PM
 タイトル      CCR5 deficiency increases risk of symptomatic West Nile virus infection.
 雑誌        J Exp Med 203:35-40 (2006)
 DOI:<a href=""https://doi.org/10.1084/jem.20051970"">10.1084/jem.20051970</a>"
H01549,"リフトバレー熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Rift Valley fever is an infectious disease caused by Rift Valley fever virus (RVFV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RVFV was first isolated in 1931 in Kenya.",感染症,,,Rift Valley fever virus [GN:T40030],,,,,"ICD-11: 1D44
 ICD-10: A92.4
 MeSH: D012295","PMID:19335238
 著者        Bird BH, Ksiazek TG, Nichol ST, Maclachlan NJ
 タイトル      Rift Valley fever virus.
 雑誌        J Am Vet Med Assoc 234:883-93 (2009)
 DOI:10.2460/javma.234.7.883
 PMID:21450816
 著者        Boshra H, Lorenzo G, Busquets N, Brun A
 タイトル      Rift valley fever: recent insights into pathogenesis and prevention.
 雑誌        J Virol 85:6098-105 (2011)
 DOI:10.1128/JVI.02641-10","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01549"">H01549</a>","リフトバレー熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Rift Valley fever is an infectious disease caused by Rift Valley fever virus (RVFV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RVFV was first isolated in 1931 in Kenya.",,,"Rift Valley fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40030"">T40030</a>]",,,,,"ICD-11: 1D44
 ICD-10: A92.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012295"">D012295</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19335238"">19335238</a>
 著者        Bird BH, Ksiazek TG, Nichol ST, Maclachlan NJ
 タイトル      Rift Valley fever virus.
 雑誌        J Am Vet Med Assoc 234:883-93 (2009)
 DOI:<a href=""https://doi.org/10.2460/javma.234.7.883"">10.2460/javma.234.7.883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21450816"">21450816</a>
 著者        Boshra H, Lorenzo G, Busquets N, Brun A
 タイトル      Rift valley fever: recent insights into pathogenesis and prevention.
 雑誌        J Virol 85:6098-105 (2011)
 DOI:<a href=""https://doi.org/10.1128/JVI.02641-10"">10.1128/JVI.02641-10</a>"
H01550,"ブニヤムウェラ熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Bunyamwera fever is an infectious disease caused by Bunyamwera virus (BUNV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Anopheles mosquitoes. BUNV was first isolated in 1943 in Uganda.",感染症,,,Bunyamwera virus [GN:T40031],,,,,"ICD-11: 1D4Y
 ICD-10: A92.8
 MeSH: D002042","PMID:26118981
 著者        Odhiambo C, Venter M, Lwande O, Swanepoel R, Sang R
 タイトル      Phylogenetic analysis of Bunyamwera and Ngari viruses (family Bunyaviridae, genus Orthobunyavirus) isolated in Kenya.
 雑誌        Epidemiol Infect 144:389-95 (2016)
 DOI:10.1017/S0950268815001338","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01550"">H01550</a>","ブニヤムウェラ熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Bunyamwera fever is an infectious disease caused by Bunyamwera virus (BUNV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Anopheles mosquitoes. BUNV was first isolated in 1943 in Uganda.",,,"Bunyamwera virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40031"">T40031</a>]",,,,,"ICD-11: 1D4Y
 ICD-10: A92.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002042"">D002042</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26118981"">26118981</a>
 著者        Odhiambo C, Venter M, Lwande O, Swanepoel R, Sang R
 タイトル      Phylogenetic analysis of Bunyamwera and Ngari viruses (family Bunyaviridae, genus Orthobunyavirus) isolated in Kenya.
 雑誌        Epidemiol Infect 144:389-95 (2016)
 DOI:<a href=""https://doi.org/10.1017/S0950268815001338"">10.1017/S0950268815001338</a>"
H01551,"間質性膀胱炎;
 膀胱痛症候群",,,"Interstitial cystitis (IC), also referred to as bladder pain syndrome (BPS), is a chronic non-infectious inflammatory condition characterized by recurring discomfort, pain or pressure in the bladder and the surrounding pelvic region. IC/BPS most often affect females compared with males. The affected individuals experience urinary frequency and urgency. The duration of irritative symptoms associated with unpleasant sensation are longer than six weeks duration. At present, there are two major subtypes of IC/BPS: those with or without Hunner lesion, which are also known as ulcerative or non-ulcerative IC/BPS, respectively.",泌尿器系疾患,,,,,,ジメチルスルホキシド [DR:D01043] (ハンナ型),,"ICD-11: GC00.3
 ICD-10: N30.1
 MeSH: D018856","PMID:26535808 (description and drug)
 著者        Ogawa T, Ishizuka O, Ueda T, Tyagi P, Chancellor MB, Yoshimura N
 タイトル      Current and emerging drugs for interstitial cystitis/bladder pain syndrome (IC/BPS).
 雑誌        Expert Opin Emerg Drugs 20:555-70 (2015)
 DOI:10.1517/14728214.2015.1105216
 PMID:10799190 (drug)
 著者        Barbalias GA, Liatsikos EN, Athanasopoulos A, Nikiforidis G
 タイトル      Interstitial cystitis: bladder training with intravesical oxybutynin.
 雑誌        J Urol 163:1818-22 (2000)
 DOI:10.1016/S0022-5347(05)67551-9
 PMID:17853025 (description and drug)
 著者        Taneja R, Jawade KK
 タイトル      A rational combination of intravesical and systemic agents for the treatment of interstitial cystitis.
 雑誌        Scand J Urol Nephrol 41:511-5 (2007)
 DOI:10.1080/00365590701435918","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01551"">H01551</a>","間質性膀胱炎;
 膀胱痛症候群","Interstitial cystitis (IC), also referred to as bladder pain syndrome (BPS), is a chronic non-infectious inflammatory condition characterized by recurring discomfort, pain or pressure in the bladder and the surrounding pelvic region. IC/BPS most often affect females compared with males. The affected individuals experience urinary frequency and urgency. The duration of irritative symptoms associated with unpleasant sensation are longer than six weeks duration. At present, there are two major subtypes of IC/BPS: those with or without Hunner lesion, which are also known as ulcerative or non-ulcerative IC/BPS, respectively.",,,,,,"ジメチルスルホキシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01043"">D01043</a>] (ハンナ型)",,"ICD-11: GC00.3
 ICD-10: N30.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018856"">D018856</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26535808"">26535808</a> (description <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Ogawa T, Ishizuka O, Ueda T, Tyagi P, Chancellor MB, Yoshimura N
 タイトル      Current and emerging drugs for interstitial cystitis/bladder pain syndrome (IC/BPS).
 雑誌        Expert Opin Emerg Drugs 20:555-70 (2015)
 DOI:<a href=""https://doi.org/10.1517/14728214.2015.1105216"">10.1517/14728214.2015.1105216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10799190"">10799190</a> (drug)
 著者        Barbalias GA, Liatsikos EN, Athanasopoulos A, Nikiforidis G
 タイトル      Interstitial cystitis: bladder training with intravesical oxybutynin.
 雑誌        J Urol 163:1818-22 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0022-5347(05)67551-9"">10.1016/S0022-5347(05)67551-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17853025"">17853025</a> (description <a href=""https://pubmed.ncbi.nlm.nih.gov/and"">and</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Taneja R, Jawade KK
 タイトル      A rational combination of intravesical and systemic agents for the treatment of interstitial cystitis.
 雑誌        Scand J Urol Nephrol 41:511-5 (2007)
 DOI:<a href=""https://doi.org/10.1080/00365590701435918"">10.1080/00365590701435918</a>"
H01552,"ダウン症候群;
 21 トリソミー",,,"Down syndrome (DS), a genetic condition characterized by mental retardation and distinctive facial appearance, is caused by trisomy of chromosome 21 (HSA21). Down syndrome (DS) is the most common chromosomal malformation in newborns. Throughout the world, the overall prevalence of DS is 1 per 1,000 live births, although in recent years this figure has been increasing. Roughly 95% of cases of DS are due to the presence of an extra (third) copy of HSA21. Most often, the non-disjunction event leading to DS occurs in maternal meiosis I. In about 5% of patients, 1 copy is translocated to another acrocentric chromosome, most often chromosome 14 or 21. In 2 to 4% of cases with free trisomy 21 there is recognizable mosaicism for a trisomic and a normal cell line. DS occurs at a much higher incidence in older mothers. Nonetheless, the vast majority of DS births are to younger mothers. Clinical and experimental studies have shown that age independent DNA hypo-methylation is associated with chromosomal instability and abnormal segregation. Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are quite variable from person to person and include learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. This phenotypic variation is likely to be caused by a combination of environmental and genetic causes. Genetic polymorphisms in both Hsa21 and non-Hsa21 genes may account for much of this variation. Trisomy of Hsa21 has a significant impact on the development of many tissues, most notably the heart and the brain. A recent paper has suggested that RCAN1 and DYRK1A, localized in the Down syndrome critical region (DSCR) of HSA21, may have an impact on the development of multiple tissues.",染色体異常,,"RCAN1 [HSA:1827] [KO:K17901]
 DYRK1A [HSA:1859] [KO:K08825]
 MTHFR (maternal polymorphism) [HSA:4524] [KO:K25004]
 MTRR (maternal polymorphism) [HSA:4552] [KO:K00597]",,,,,,"ICD-11: LD40.0
 ICD-10: Q90
 MeSH: D004314
 OMIM: 190685","PMID:19297404
 著者        Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM
 タイトル      Down syndrome--recent progress and future prospects.
 雑誌        Hum Mol Genet 18:R75-83 (2009)
 DOI:10.1093/hmg/ddp010
 PMID:18660978
 著者        Sommer C, Henrique-Silva F
 タイトル      Trisomy 21 and Down syndrome: a short review.
 雑誌        Braz J Biol 68:447-52 (2008)
 DOI:10.1590/S1519-69842008000200031
 PMID:26062604 (gene, marker)
 著者        Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S
 タイトル      ""Down syndrome: an insight of the disease"".
 雑誌        J Biomed Sci 22:41 (2015)
 DOI:10.1186/s12929-015-0138-y
 PMID:22354166
 著者        Birger Y, Izraeli S
 タイトル      DYRK1A in Down syndrome: an oncogene or tumor suppressor?
 雑誌        J Clin Invest 122:807-10 (2012)
 DOI:10.1172/JCI62372
 PMID:12626825 (maternal polymorphism)
 著者        Sheth JJ, Sheth FJ
 タイトル      Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome.
 雑誌        Indian Pediatr 40:115-23 (2003)
 PMID:16390612 (marker)
 著者        Harrison G, Goldie D
 タイトル      Second-trimester Down's syndrome serum screening: double, triple or quadruple marker testing?
 雑誌        Ann Clin Biochem 43:67-72 (2006)
 DOI:10.1258/000456306775141876
 PMID:25598039 (marker)
 著者        Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
 タイトル      Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
 雑誌        Ultrasound Obstet Gynecol 45:530-8 (2015)
 DOI:10.1002/uog.14792","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01552"">H01552</a>","ダウン症候群;
 21 トリソミー","Down syndrome (DS), a genetic condition characterized by mental retardation and distinctive facial appearance, is caused by trisomy of chromosome 21 (HSA21). Down syndrome (DS) is the most common chromosomal malformation in newborns. Throughout the world, the overall prevalence of DS is 1 per 1,000 live births, although in recent years this figure has been increasing. Roughly 95% of cases of DS are due to the presence of an extra (third) copy of HSA21. Most often, the non-disjunction event leading to DS occurs in maternal meiosis I. In about 5% of patients, 1 copy is translocated to another acrocentric chromosome, most often chromosome 14 or 21. In 2 to 4% of cases with free trisomy 21 there is recognizable mosaicism for a trisomic and a normal cell line. DS occurs at a much higher incidence in older mothers. Nonetheless, the vast majority of DS births are to younger mothers. Clinical and experimental studies have shown that age independent DNA hypo-methylation is associated with chromosomal instability and abnormal segregation. Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are quite variable from person to person and include learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. This phenotypic variation is likely to be caused by a combination of environmental and genetic causes. Genetic polymorphisms in both Hsa21 and non-Hsa21 genes may account for much of this variation. Trisomy of Hsa21 has a significant impact on the development of many tissues, most notably the heart and the brain. A recent paper has suggested that RCAN1 and DYRK1A, localized in the Down syndrome critical region (DSCR) of HSA21, may have an impact on the development of multiple tissues.",,"RCAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1827"">1827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17901"">K17901</a>]
 DYRK1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1859"">1859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08825"">K08825</a>]
 MTHFR (maternal polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4524"">4524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25004"">K25004</a>]
 MTRR (maternal polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4552"">4552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00597"">K00597</a>]",,,,,,"ICD-11: LD40.0
 ICD-10: Q90
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004314"">D004314</a>
 OMIM: <a href=""https://www.omim.org/entry/190685"">190685</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19297404"">19297404</a>
 著者        Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM
 タイトル      Down syndrome--recent progress and future prospects.
 雑誌        Hum Mol Genet 18:R75-83 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp010"">10.1093/hmg/ddp010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18660978"">18660978</a>
 著者        Sommer C, Henrique-Silva F
 タイトル      Trisomy 21 and Down syndrome: a short review.
 雑誌        Braz J Biol 68:447-52 (2008)
 DOI:<a href=""https://doi.org/10.1590/S1519-69842008000200031"">10.1590/S1519-69842008000200031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26062604"">26062604</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S
 タイトル      ""Down syndrome: an insight of the disease"".
 雑誌        J Biomed Sci 22:41 (2015)
 DOI:<a href=""https://doi.org/10.1186/s12929-015-0138-y"">10.1186/s12929-015-0138-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22354166"">22354166</a>
 著者        Birger Y, Izraeli S
 タイトル      DYRK1A in Down syndrome: an oncogene or tumor suppressor?
 雑誌        J Clin Invest 122:807-10 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI62372"">10.1172/JCI62372</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12626825"">12626825</a> (maternal <a href=""https://pubmed.ncbi.nlm.nih.gov/polymorphism)"">polymorphism)</a>
 著者        Sheth JJ, Sheth FJ
 タイトル      Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome.
 雑誌        Indian Pediatr 40:115-23 (2003)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16390612"">16390612</a> (marker)
 著者        Harrison G, Goldie D
 タイトル      Second-trimester Down's syndrome serum screening: double, triple or quadruple marker testing?
 雑誌        Ann Clin Biochem 43:67-72 (2006)
 DOI:<a href=""https://doi.org/10.1258/000456306775141876"">10.1258/000456306775141876</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25598039"">25598039</a> (marker)
 著者        Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
 タイトル      Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
 雑誌        Ultrasound Obstet Gynecol 45:530-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/uog.14792"">10.1002/uog.14792</a>"
H01553,"ジカ熱;
 ジカウイルス感染症
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Zika fever is an infectious disease caused by Zika virus (ZIKV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. ZIKV was first isolated in 1947 in the Zika Forest of Uganda.",感染症,,,Zika virus [GN:T40049],,,,,"ICD-11: 1D48
 ICD-10: U06
 MeSH: D000071243","PMID:27236440
 著者        Maharajan MK, Ranjan A, Chu JF, Foo WL, Chai ZX, Lau EY, Ye HM, Theam XJ, Lok YL
 タイトル      Zika Virus Infection: Current Concerns and Perspectives.
 雑誌        Clin Rev Allergy Immunol 51:383-394 (2016)
 DOI:10.1007/s12016-016-8554-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01553"">H01553</a>","ジカ熱;
 ジカウイルス感染症
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Zika fever is an infectious disease caused by Zika virus (ZIKV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. ZIKV was first isolated in 1947 in the Zika Forest of Uganda.",,,"Zika virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40049"">T40049</a>]",,,,,"ICD-11: 1D48
 ICD-10: U06
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000071243"">D000071243</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27236440"">27236440</a>
 著者        Maharajan MK, Ranjan A, Chu JF, Foo WL, Chai ZX, Lau EY, Ye HM, Theam XJ, Lok YL
 タイトル      Zika Virus Infection: Current Concerns and Perspectives.
 雑誌        Clin Rev Allergy Immunol 51:383-394 (2016)
 DOI:<a href=""https://doi.org/10.1007/s12016-016-8554-7"">10.1007/s12016-016-8554-7</a>"
H01554,卵管癌,,,"Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely arises from distal fallopian tube epithelium, indicating that some ovarian cancers develop in the fallopian tube and are then spread to the ovary. Fallopian tube cancers are similar to ovarian cancer with respect to the proportion of tumors with abnormal expression of c-erbB-2 and p53. It has been proposed that the p53 signature is the earliest step in the pathogenesis of fallopian tube cancer. In this model, tubal epithelium on the fimbria experiences genotoxic damage and, as a result, the secretory cell exhibits over-accumulation of p53 protein (p53 signature). There is also some evidence that BRCA-1 and BRCA-2 mutations and c-myc have a major role in tumorgenesis.",がん,,"BRCA1 (mutation) [HSA:672] [KO:K10605]
 BRCA2 (mutation) [HSA:675] [KO:K08775]
 TP53 (overexpression) [HSA:7157] [KO:K04451]
 ERBB2 (overexpression) [HSA:2064] [KO:K05083]
 c-myc (overexpression) [HSA:4609] [KO:K04377]",,,,,,"ICD-11: 2C74
 ICD-10: C57.0
 MeSH: D005185","PMID:25286779 (marker)
 著者        Horng HC, Teng SW, Huang BS, Sun HD, Yen MS, Wang PH, Tsui KH, Wen KC, Chen YJ, Chuang CM, Chao HT, Chang WH
 タイトル      Primary fallopian tube cancer: domestic data and up-to-date review.
 雑誌        Taiwan J Obstet Gynecol 53:287-92 (2014)
 DOI:10.1016/j.tjog.2014.07.003
 PMID:23622731 (description, gene, marker, drug)
 著者        Kalampokas E, Kalampokas T, Tourountous I
 タイトル      Primary fallopian tube carcinoma.
 雑誌        Eur J Obstet Gynecol Reprod Biol 169:155-61 (2013)
 DOI:10.1016/j.ejogrb.2013.03.023
 PMID:23937438
 著者        Nik NN, Vang R, Shih IeM, Kurman RJ
 タイトル      Origin and pathogenesis of pelvic (ovarian, tubal, and primary peritoneal) serous carcinoma.
 雑誌        Annu Rev Pathol 9:27-45 (2014)
 DOI:10.1146/annurev-pathol-020712-163949
 PMID:21922146
 著者        Haruta S, Furukawa N, Yoshizawa Y, Tsunemi T, Nagai A, Kawaguchi R, Tanase Y, Yoshida S, Kobayashi H
 タイトル      Molecular genetics and epidemiology of epithelial ovarian cancer (Review).
 雑誌        Oncol Rep 26:1347-56 (2011)
 DOI:10.3892/or.2011.1456
 PMID:24511245 (gene, drug)
 著者        Sama AR, Schilder RJ
 タイトル      Refractory fallopian tube carcinoma - current perspectives in pathogenesis and management.
 雑誌        Int J Womens Health 6:149-57 (2014)
 DOI:10.2147/IJWH.S40889
 PMID:7773939
 著者        Lacy MQ, Hartmann LC, Keeney GL, Cha SC, Wieand HS, Podratz KC, Roche PC
 タイトル      c-erbB-2 and p53 expression in fallopian tube carcinoma.
 雑誌        Cancer 75:2891-6 (1995)
 DOI:10.1002/1097-0142(19950615)75:12<2891::AID-CNCR2820751216>3.0.CO;2-B
 PMID:23240669
 著者        Vang R, Shih IeM, Kurman RJ
 タイトル      Fallopian tube precursors of ovarian low- and high-grade serous neoplasms.
 雑誌        Histopathology 62:44-58 (2013)
 DOI:10.1111/his.12046
 PMID:25315029 (drug)
 著者        Keating GM
 タイトル      Bevacizumab: a review of its use in advanced cancer.
 雑誌        Drugs 74:1891-925 (2014)
 DOI:10.1007/s40265-014-0302-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01554"">H01554</a>",卵管癌,"Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely arises from distal fallopian tube epithelium, indicating that some ovarian cancers develop in the fallopian tube and are then spread to the ovary. Fallopian tube cancers are similar to ovarian cancer with respect to the proportion of tumors with abnormal expression of c-erbB-2 and p53. It has been proposed that the p53 signature is the earliest step in the pathogenesis of fallopian tube cancer. In this model, tubal epithelium on the fimbria experiences genotoxic damage and, as a result, the secretory cell exhibits over-accumulation of p53 protein (p53 signature). There is also some evidence that BRCA-1 and BRCA-2 mutations and c-myc have a major role in tumorgenesis.",,"BRCA1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 BRCA2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 TP53 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 ERBB2 (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2064"">2064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05083"">K05083</a>]
 c-myc (overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]",,,,,,"ICD-11: 2C74
 ICD-10: C57.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005185"">D005185</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25286779"">25286779</a> (marker)
 著者        Horng HC, Teng SW, Huang BS, Sun HD, Yen MS, Wang PH, Tsui KH, Wen KC, Chen YJ, Chuang CM, Chao HT, Chang WH
 タイトル      Primary fallopian tube cancer: domestic data and up-to-date review.
 雑誌        Taiwan J Obstet Gynecol 53:287-92 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.tjog.2014.07.003"">10.1016/j.tjog.2014.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23622731"">23622731</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Kalampokas E, Kalampokas T, Tourountous I
 タイトル      Primary fallopian tube carcinoma.
 雑誌        Eur J Obstet Gynecol Reprod Biol 169:155-61 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejogrb.2013.03.023"">10.1016/j.ejogrb.2013.03.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23937438"">23937438</a>
 著者        Nik NN, Vang R, Shih IeM, Kurman RJ
 タイトル      Origin and pathogenesis of pelvic (ovarian, tubal, and primary peritoneal) serous carcinoma.
 雑誌        Annu Rev Pathol 9:27-45 (2014)
 DOI:<a href=""https://doi.org/10.1146/annurev-pathol-020712-163949"">10.1146/annurev-pathol-020712-163949</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21922146"">21922146</a>
 著者        Haruta S, Furukawa N, Yoshizawa Y, Tsunemi T, Nagai A, Kawaguchi R, Tanase Y, Yoshida S, Kobayashi H
 タイトル      Molecular genetics and epidemiology of epithelial ovarian cancer (Review).
 雑誌        Oncol Rep 26:1347-56 (2011)
 DOI:<a href=""https://doi.org/10.3892/or.2011.1456"">10.3892/or.2011.1456</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24511245"">24511245</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Sama AR, Schilder RJ
 タイトル      Refractory fallopian tube carcinoma - current perspectives in pathogenesis and management.
 雑誌        Int J Womens Health 6:149-57 (2014)
 DOI:<a href=""https://doi.org/10.2147/IJWH.S40889"">10.2147/IJWH.S40889</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7773939"">7773939</a>
 著者        Lacy MQ, Hartmann LC, Keeney GL, Cha SC, Wieand HS, Podratz KC, Roche PC
 タイトル      c-erbB-2 and p53 expression in fallopian tube carcinoma.
 雑誌        Cancer 75:2891-6 (1995)
 DOI:<a href=""https://doi.org/10.1002/1097-0142(19950615)75:"">10.1002/1097-0142(19950615)75:</a><a href=""https://doi.org/12<2891:"">12<2891:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-CNCR2820751216>3.0.CO;2-B"">AID-CNCR2820751216>3.0.CO;2-B</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23240669"">23240669</a>
 著者        Vang R, Shih IeM, Kurman RJ
 タイトル      Fallopian tube precursors of ovarian low- and high-grade serous neoplasms.
 雑誌        Histopathology 62:44-58 (2013)
 DOI:<a href=""https://doi.org/10.1111/his.12046"">10.1111/his.12046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25315029"">25315029</a> (drug)
 著者        Keating GM
 タイトル      Bevacizumab: a review of its use in advanced cancer.
 雑誌        Drugs 74:1891-925 (2014)
 DOI:<a href=""https://doi.org/10.1007/s40265-014-0302-9"">10.1007/s40265-014-0302-9</a>"
H01555,メルケル細胞癌,,,"Merkel cell carcinoma (MCC) is a cutaneous neuroendocrine malignancy that exhibits clinically aggressive features and is associated with a poor prognosis. Ultraviolet (UV) radiation may be a cause, and corresponds with the sites of these tumours, often on sun-exposed skin, mostly (94%) in the White population. UV light may exert local immunomodulating action as it decreases amount of epidermal T cells and Langerhans cells, inducing hapten tolerance. Additionally, UV- specific mutations in TP53 and Harvey (Ha)-RAS genes are present in some MCC cell lines. Recently, the polyomavirus group has been linked with MCC. The MCC polyomavirus (MCPyV) has been isolated from MCC tissue and thought to be present in up to 80% of MCC. Tumorigenesis likely is caused by a number of sequential steps from viral integration into host DNA, mutagenic events, and specific immune responses.",がん,,"TP53 (mutation) [HSA:7157] [KO:K04451]
 Ha-RAS (mutation) [HSA:3265] [KO:K02833]",Merkel cell polyomavirus (MCPyV) [GN:T40051],,,アベルマブ [DR:D10817],,"ICD-11: 2C34
 ICD-10: C44.3
 MeSH: D015266","PMID:24811434 (description, gene, pathogen, marker)
 著者        Czapiewski P, Biernat W
 タイトル      Merkel cell carcinoma - recent advances in the biology, diagnostics and treatment.
 雑誌        Int J Biochem Cell Biol 53:536-46 (2014)
 DOI:10.1016/j.biocel.2014.04.023
 PMID:26009549 (description, pathogen)
 著者        Prewett SL, Ajithkumar T
 タイトル      Merkel Cell Carcinoma: Current Management and Controversies.
 雑誌        Clin Oncol (R Coll Radiol) 27:436-44 (2015)
 DOI:10.1016/j.clon.2015.04.007
 PMID:26716756 (description, pathogen, marker, drug)
 著者        Miles BA, Goldenberg D
 タイトル      Merkel cell carcinoma: Do you know your guidelines?
 雑誌        Head Neck 38:647-52 (2016)
 DOI:10.1002/hed.24359
 PMID:22234254 (drug)
 著者        Schrama D, Ugurel S, Becker JC
 タイトル      Merkel cell carcinoma: recent insights and new treatment options.
 雑誌        Curr Opin Oncol 24:141-9 (2012)
 DOI:10.1097/CCO.0b013e32834fc9fe
 PMID:23476782 (pathogen, drug)
 著者        Desch L, Kunstfeld R
 タイトル      Merkel cell carcinoma: chemotherapy and emerging new therapeutic options.
 雑誌        J Skin Cancer 2013:327150 (2013)
 DOI:10.1155/2013/327150
 PMID:27163912 (description, pathogen, marker)
 著者        Oram CW, Bartus CL, Purcell SM
 タイトル      Merkel cell carcinoma: a review.
 雑誌        Cutis 97:290-5 (2016)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01555"">H01555</a>",メルケル細胞癌,"Merkel cell carcinoma (MCC) is a cutaneous neuroendocrine malignancy that exhibits clinically aggressive features and is associated with a poor prognosis. Ultraviolet (UV) radiation may be a cause, and corresponds with the sites of these tumours, often on sun-exposed skin, mostly (94%) in the White population. UV light may exert local immunomodulating action as it decreases amount of epidermal T cells and Langerhans cells, inducing hapten tolerance. Additionally, UV- specific mutations in TP53 and Harvey (Ha)-RAS genes are present in some MCC cell lines. Recently, the polyomavirus group has been linked with MCC. The MCC polyomavirus (MCPyV) has been isolated from MCC tissue and thought to be present in up to 80% of MCC. Tumorigenesis likely is caused by a number of sequential steps from viral integration into host DNA, mutagenic events, and specific immune responses.",,"TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 Ha-RAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]","Merkel cell polyomavirus (MCPyV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40051"">T40051</a>]",,,"アベルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10817"">D10817</a>]",,"ICD-11: 2C34
 ICD-10: C44.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015266"">D015266</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24811434"">24811434</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Czapiewski P, Biernat W
 タイトル      Merkel cell carcinoma - recent advances in the biology, diagnostics and treatment.
 雑誌        Int J Biochem Cell Biol 53:536-46 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2014.04.023"">10.1016/j.biocel.2014.04.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26009549"">26009549</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Prewett SL, Ajithkumar T
 タイトル      Merkel Cell Carcinoma: Current Management and Controversies.
 雑誌        Clin Oncol (R Coll Radiol) 27:436-44 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.clon.2015.04.007"">10.1016/j.clon.2015.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26716756"">26716756</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Miles BA, Goldenberg D
 タイトル      Merkel cell carcinoma: Do you know your guidelines?
 雑誌        Head Neck 38:647-52 (2016)
 DOI:<a href=""https://doi.org/10.1002/hed.24359"">10.1002/hed.24359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22234254"">22234254</a> (drug)
 著者        Schrama D, Ugurel S, Becker JC
 タイトル      Merkel cell carcinoma: recent insights and new treatment options.
 雑誌        Curr Opin Oncol 24:141-9 (2012)
 DOI:<a href=""https://doi.org/10.1097/CCO.0b013e32834fc9fe"">10.1097/CCO.0b013e32834fc9fe</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23476782"">23476782</a> (pathogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Desch L, Kunstfeld R
 タイトル      Merkel cell carcinoma: chemotherapy and emerging new therapeutic options.
 雑誌        J Skin Cancer 2013:327150 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/327150"">10.1155/2013/327150</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27163912"">27163912</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Oram CW, Bartus CL, Purcell SM
 タイトル      Merkel cell carcinoma: a review.
 雑誌        Cutis 97:290-5 (2016)"
H01556,髄膜腫,,,"Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend to be benign, localized, and non-invasive. However, some meningiomas tend to be more aggressive with tendencies toward invasion of the surrounding brain, high propensity for recurrence, and in rare cases extracranial metastasis. Hereditary factors and ionizing radiation play an important role in the initiation of at least some meningiomas. Inactivation of the NF2 tumor suppressor gene is likely responsible for the initiation of more than half of all meningiomas and may cause a mesenchymal-like cytomorphology. Recently, novel mutations have been discovered in non-NF2 meningiomas. The somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of meningiomas.",がん,,"NF2 [HSA:4771] [KO:K16684]
 SMARCB1 [HSA:6598] [KO:K11648]
 SMARCE1 [HSA:6605] [KO:K11651]
 SUFU [HSA:51684] [KO:K06229]
 PTEN [HSA:5728] [KO:K01110]
 CDKN2A [HSA:1029] [KO:K06621]
 CDKN2B [HSA:1030] [KO:K04685]
 TRAF7 [HSA:84231] [KO:K10646]
 AKT1 [HSA:207] [KO:K04456]
 KLF4 [HSA:9314] [KO:K17846]
 SMO [HSA:6608] [KO:K06226]
 MN1 [HSA:4330] [KO:K22543]
 PDGFB [HSA:5155] [KO:K17386]",,,Ionising radiation,,,"ICD-11: 2A01.00
 ICD-10: D32.9
 MeSH: D008579
 OMIM: 607174","PMID:25857641 (GENE)
 著者        Smith MJ
 タイトル      Germline and somatic mutations in meningiomas.
 雑誌        Cancer Genet 208:107-14 (2015)
 DOI:10.1016/j.cancergen.2015.02.003
 PMID:25485306
 著者        Miller R Jr, DeCandio ML, Dixon-Mah Y, Giglio P, Vandergrift WA 3rd, Banik NL, Patel SJ, Varma AK, Das A
 タイトル      Molecular Targets and Treatment of Meningioma.
 雑誌        J Neurol Neurosurg 1:1000101 (2014)
 PMID:21529177
 著者        Choy W, Kim W, Nagasawa D, Stramotas S, Yew A, Gopen Q, Parsa AT, Yang I
 タイトル      The molecular genetics and tumor pathogenesis of meningiomas and the future directions of meningioma treatments.
 雑誌        Neurosurg Focus 30:E6 (2011)
 DOI:10.3171/2011.2.FOCUS1116
 PMID:25744347
 著者        Shibuya M
 タイトル      Pathology and molecular genetics of meningioma: recent advances.
 雑誌        Neurol Med Chir (Tokyo) 55:14-27 (2015)
 DOI:10.2176/nmc.ra.2014-0233
 PMID:17110285
 著者        Riemenschneider MJ, Perry A, Reifenberger G
 タイトル      Histological classification and molecular genetics of meningiomas.
 雑誌        Lancet Neurol 5:1045-54 (2006)
 DOI:10.1016/S1474-4422(06)70625-1
 PMID:17460514
 著者        Simon M, Bostrom JP, Hartmann C
 タイトル      Molecular genetics of meningiomas: from basic research to potential clinical applications.
 雑誌        Neurosurgery 60:787-98; discussion 787-98 (2007)
 DOI:10.1227/01.NEU.0000255421.78431.AE
 PMID:7731706 (MN1)
 著者        Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, Bootsma D, de Jong PJ, Menon AG, Kley NA, et al.
 タイトル      Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
 雑誌        Oncogene 10:1521-8 (1995)
 PMID:2212004 (PDGFB)
 著者        Smidt M, Kirsch I, Ratner L
 タイトル      Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.
 雑誌        J Clin Invest 86:1151-7 (1990)
 DOI:10.1172/JCI114820","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01556"">H01556</a>",髄膜腫,"Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend to be benign, localized, and non-invasive. However, some meningiomas tend to be more aggressive with tendencies toward invasion of the surrounding brain, high propensity for recurrence, and in rare cases extracranial metastasis. Hereditary factors and ionizing radiation play an important role in the initiation of at least some meningiomas. Inactivation of the NF2 tumor suppressor gene is likely responsible for the initiation of more than half of all meningiomas and may cause a mesenchymal-like cytomorphology. Recently, novel mutations have been discovered in non-NF2 meningiomas. The somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of meningiomas.",,"NF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4771"">4771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16684"">K16684</a>]
 SMARCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6598"">6598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11648"">K11648</a>]
 SMARCE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6605"">6605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11651"">K11651</a>]
 SUFU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51684"">51684</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06229"">K06229</a>]
 PTEN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 CDKN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 CDKN2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 TRAF7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84231"">84231</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10646"">K10646</a>]
 AKT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:207"">207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 KLF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9314"">9314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17846"">K17846</a>]
 SMO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6608"">6608</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06226"">K06226</a>]
 MN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4330"">4330</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22543"">K22543</a>]
 PDGFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5155"">5155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17386"">K17386</a>]",,,Ionising radiation,,,"ICD-11: 2A01.00
 ICD-10: D32.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008579"">D008579</a>
 OMIM: <a href=""https://www.omim.org/entry/607174"">607174</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25857641"">25857641</a> (GENE)
 著者        Smith MJ
 タイトル      Germline and somatic mutations in meningiomas.
 雑誌        Cancer Genet 208:107-14 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.cancergen.2015.02.003"">10.1016/j.cancergen.2015.02.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25485306"">25485306</a>
 著者        Miller R Jr, DeCandio ML, Dixon-Mah Y, Giglio P, Vandergrift WA 3rd, Banik NL, Patel SJ, Varma AK, Das A
 タイトル      Molecular Targets and Treatment of Meningioma.
 雑誌        J Neurol Neurosurg 1:1000101 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21529177"">21529177</a>
 著者        Choy W, Kim W, Nagasawa D, Stramotas S, Yew A, Gopen Q, Parsa AT, Yang I
 タイトル      The molecular genetics and tumor pathogenesis of meningiomas and the future directions of meningioma treatments.
 雑誌        Neurosurg Focus 30:E6 (2011)
 DOI:<a href=""https://doi.org/10.3171/2011.2.FOCUS1116"">10.3171/2011.2.FOCUS1116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25744347"">25744347</a>
 著者        Shibuya M
 タイトル      Pathology and molecular genetics of meningioma: recent advances.
 雑誌        Neurol Med Chir (Tokyo) 55:14-27 (2015)
 DOI:<a href=""https://doi.org/10.2176/nmc.ra.2014-0233"">10.2176/nmc.ra.2014-0233</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17110285"">17110285</a>
 著者        Riemenschneider MJ, Perry A, Reifenberger G
 タイトル      Histological classification and molecular genetics of meningiomas.
 雑誌        Lancet Neurol 5:1045-54 (2006)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(06)70625-1"">10.1016/S1474-4422(06)70625-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17460514"">17460514</a>
 著者        Simon M, Bostrom JP, Hartmann C
 タイトル      Molecular genetics of meningiomas: from basic research to potential clinical applications.
 雑誌        Neurosurgery 60:787-98; discussion 787-98 (2007)
 DOI:<a href=""https://doi.org/10.1227/01.NEU.0000255421.78431.AE"">10.1227/01.NEU.0000255421.78431.AE</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7731706"">7731706</a> (MN1)
 著者        Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, Bootsma D, de Jong PJ, Menon AG, Kley NA, et al.
 タイトル      Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
 雑誌        Oncogene 10:1521-8 (1995)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2212004"">2212004</a> (PDGFB)
 著者        Smidt M, Kirsch I, Ratner L
 タイトル      Deletion of Alu sequences in the fifth c-sis intron in individuals with meningiomas.
 雑誌        J Clin Invest 86:1151-7 (1990)
 DOI:<a href=""https://doi.org/10.1172/JCI114820"">10.1172/JCI114820</a>"
H01557,"肝血管肉腫
 上位グループ    固形腫瘍 [DS:H02421]",,,"Angiosarcoma represents 1 to 2% of soft tissue tumors. It originates from endothelial cells of small blood vessels and may affect a variety of organs, including the retroperitoneum, skeletal muscle, subcutis, liver, heart and breast. Primary hepatic angiosarcomas (HAS) are much rare tumors, with worse prognosis compared with other angiosarcomas. HAS has been found to be caused by occupational exposure to vinyl chloride (VC) monomer since 1970, and the number of VC-associated HAS cases reported up to the end of 1998 was 197 worldwide. Exposure of VC connects with a series of mechanistic events leading to carcinogenic outcome; mutations of K-ras and p53 are also detected.",がん,,"TP53 (mutation) [HSA:7157] [KO:K04451]
 KRAS-2 (mutation) [HSA:3845] [KO:K07827]",,,Vinyl chloride [CPD:C06793],,,"ICD-11: 2B56.3
 ICD-10: C22.3
 MeSH: D006394","PMID:26008857 (description, gene, carcinogen, marker, drug)
 著者        Chaudhary P, Bhadana U, Singh RA, Ahuja A
 タイトル      Primary hepatic angiosarcoma.
 雑誌        Eur J Surg Oncol 41:1137-43 (2015)
 DOI:10.1016/j.ejso.2015.04.022
 PMID:24372769 (description, gene, carcinogen, marker, drug)
 著者        Zheng YW, Zhang XW, Zhang JL, Hui ZZ, Du WJ, Li RM, Ren XB
 タイトル      Primary hepatic angiosarcoma and potential treatment options.
 雑誌        J Gastroenterol Hepatol 29:906-11 (2014)
 DOI:10.1111/jgh.12506
 PMID:20537949 (description, gene, carcinogen, marker, drug)
 著者        Young RJ, Brown NJ, Reed MW, Hughes D, Woll PJ
 タイトル      Angiosarcoma.
 雑誌        Lancet Oncol 11:983-91 (2010)
 DOI:10.1016/S1470-2045(10)70023-1
 PMID:19031953 (marker, drug)
 著者        Asmane I, Litique V, Heymann S, Marcellin L, Metivier AC, Duclos B, Bergerat JP, Kurtz JE
 タイトル      Adriamycin, cisplatin, ifosfamide and paclitaxel combination as front-line chemotherapy for locally advanced and metastatic angiosarcoma. Analysis of three case reports and review of the literature.
 雑誌        Anticancer Res 28:3041-5 (2008)
 PMID:24707153 (marker)
 著者        Wang ZB, Yuan J, Chen W, Wei LX
 タイトル      Transcription factor ERG is a specific and sensitive diagnostic marker for hepatic angiosarcoma.
 雑誌        World J Gastroenterol 20:3672-9 (2014)
 DOI:10.3748/wjg.v20.i13.3672","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01557"">H01557</a>","肝血管肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Angiosarcoma represents 1 to 2% of soft tissue tumors. It originates from endothelial cells of small blood vessels and may affect a variety of organs, including the retroperitoneum, skeletal muscle, subcutis, liver, heart and breast. Primary hepatic angiosarcomas (HAS) are much rare tumors, with worse prognosis compared with other angiosarcomas. HAS has been found to be caused by occupational exposure to vinyl chloride (VC) monomer since 1970, and the number of VC-associated HAS cases reported up to the end of 1998 was 197 worldwide. Exposure of VC connects with a series of mechanistic events leading to carcinogenic outcome; mutations of K-ras and p53 are also detected.",,"TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 KRAS-2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]",,,"Vinyl chloride [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06793"">C06793</a>]",,,"ICD-11: 2B56.3
 ICD-10: C22.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006394"">D006394</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26008857"">26008857</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Chaudhary P, Bhadana U, Singh RA, Ahuja A
 タイトル      Primary hepatic angiosarcoma.
 雑誌        Eur J Surg Oncol 41:1137-43 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ejso.2015.04.022"">10.1016/j.ejso.2015.04.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24372769"">24372769</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Zheng YW, Zhang XW, Zhang JL, Hui ZZ, Du WJ, Li RM, Ren XB
 タイトル      Primary hepatic angiosarcoma and potential treatment options.
 雑誌        J Gastroenterol Hepatol 29:906-11 (2014)
 DOI:<a href=""https://doi.org/10.1111/jgh.12506"">10.1111/jgh.12506</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20537949"">20537949</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Young RJ, Brown NJ, Reed MW, Hughes D, Woll PJ
 タイトル      Angiosarcoma.
 雑誌        Lancet Oncol 11:983-91 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(10)70023-1"">10.1016/S1470-2045(10)70023-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19031953"">19031953</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Asmane I, Litique V, Heymann S, Marcellin L, Metivier AC, Duclos B, Bergerat JP, Kurtz JE
 タイトル      Adriamycin, cisplatin, ifosfamide and paclitaxel combination as front-line chemotherapy for locally advanced and metastatic angiosarcoma. Analysis of three case reports and review of the literature.
 雑誌        Anticancer Res 28:3041-5 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24707153"">24707153</a> (marker)
 著者        Wang ZB, Yuan J, Chen W, Wei LX
 タイトル      Transcription factor ERG is a specific and sensitive diagnostic marker for hepatic angiosarcoma.
 雑誌        World J Gastroenterol 20:3672-9 (2014)
 DOI:<a href=""https://doi.org/10.3748/wjg.v20.i13.3672"">10.3748/wjg.v20.i13.3672</a>"
H01558,副甲状腺癌,,,"Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing <1-5% of all patients with primary hyperparathyroidism. PC is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin staining together with a CDC73 gene mutation increases the likelihood of malignancy and also predicts the clinical outcome, namely local invasion and/or metastases and mortality. An increased mortality is predicted by either of these abnormality combined with down regulation of the calcium-sensing receptor (CaSR) expression.",がん,,"CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175]
 CASR [HSA:846] [KO:K04612]",,,,シナカルセト塩酸塩 [DR:D03505],,"ICD-11: 2E6B
 ICD-10: D09.3
 MeSH: D010282","PMID:26177319 (description, gene, marker)
 著者        Duan K, Mete O
 タイトル      Parathyroid Carcinoma: Diagnosis and Clinical Implications.
 雑誌        Turk Patoloji Derg 31 Suppl 1:80-97 (2015)
 DOI:10.5146/tjpath.2015.01316
 PMID:26312219 (drug)
 著者        McClenaghan F, Qureshi YA
 タイトル      Parathyroid cancer.
 雑誌        Gland Surg 4:329-38 (2015)
 DOI:10.3978/j.issn.2227-684X.2015.05.09
 PMID:24035866
 著者        Costa-Guda J, Arnold A
 タイトル      Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.
 雑誌        Mol Cell Endocrinol 386:46-54 (2014)
 DOI:10.1016/j.mce.2013.09.005
 PMID:20510594
 著者        Givi B, Shah JP
 タイトル      Parathyroid carcinoma.
 雑誌        Clin Oncol (R Coll Radiol) 22:498-507 (2010)
 DOI:10.1016/j.clon.2010.04.007
 PMID:25002250 (marker)
 著者        Truran PP, Johnson SJ, Bliss RD, Lennard TW, Aspinall SR
 タイトル      Parafibromin, galectin-3, PGP9.5, Ki67, and cyclin D1: using an immunohistochemical panel to aid in the diagnosis of parathyroid cancer.
 雑誌        World J Surg 38:2845-54 (2014)
 DOI:10.1007/s00268-014-2700-2
 PMID:26675091 (marker)
 著者        Karaarslan S, Yurum FN, Kumbaraci BS, Pala EE, Sivrikoz ON, Akyildiz M, Bugdayci MH
 タイトル      The Role of Parafibromin, Galectin-3, HBME-1, and Ki-67 in the Differential Diagnosis of Parathyroid Tumors.
 雑誌        Oman Med J 30:421-7 (2015)
 DOI:10.5001/omj.2015.84
 PMID:27001435
 著者        Cetani F, Pardi E, Marcocci C
 タイトル      Update on parathyroid carcinoma.
 雑誌        J Endocrinol Invest 39:595-606 (2016)
 DOI:10.1007/s40618-016-0447-3
 PMID:21240254
 著者        Witteveen JE, Hamdy NA, Dekkers OM, Kievit J, van Wezel T, Teh BT, Romijn JA, Morreau H
 タイトル      Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma.
 雑誌        Mod Pathol 24:688-97 (2011)
 DOI:10.1038/modpathol.2010.236","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01558"">H01558</a>",副甲状腺癌,"Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing <1-5% of all patients with primary hyperparathyroidism. PC is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin staining together with a CDC73 gene mutation increases the likelihood of malignancy and also predicts the clinical outcome, namely local invasion and/or metastases and mortality. An increased mortality is predicted by either of these abnormality combined with down regulation of the calcium-sensing receptor (CaSR) expression.",,"CDC73/HRPT2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79577"">79577</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15175"">K15175</a>]
 CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]",,,,"シナカルセト塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03505"">D03505</a>]",,"ICD-11: 2E6B
 ICD-10: D09.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010282"">D010282</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26177319"">26177319</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Duan K, Mete O
 タイトル      Parathyroid Carcinoma: Diagnosis and Clinical Implications.
 雑誌        Turk Patoloji Derg 31 Suppl 1:80-97 (2015)
 DOI:<a href=""https://doi.org/10.5146/tjpath.2015.01316"">10.5146/tjpath.2015.01316</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26312219"">26312219</a> (drug)
 著者        McClenaghan F, Qureshi YA
 タイトル      Parathyroid cancer.
 雑誌        Gland Surg 4:329-38 (2015)
 DOI:<a href=""https://doi.org/10.3978/j.issn.2227-684X.2015.05.09"">10.3978/j.issn.2227-684X.2015.05.09</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24035866"">24035866</a>
 著者        Costa-Guda J, Arnold A
 タイトル      Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.
 雑誌        Mol Cell Endocrinol 386:46-54 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2013.09.005"">10.1016/j.mce.2013.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20510594"">20510594</a>
 著者        Givi B, Shah JP
 タイトル      Parathyroid carcinoma.
 雑誌        Clin Oncol (R Coll Radiol) 22:498-507 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.clon.2010.04.007"">10.1016/j.clon.2010.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25002250"">25002250</a> (marker)
 著者        Truran PP, Johnson SJ, Bliss RD, Lennard TW, Aspinall SR
 タイトル      Parafibromin, galectin-3, PGP9.5, Ki67, and cyclin D1: using an immunohistochemical panel to aid in the diagnosis of parathyroid cancer.
 雑誌        World J Surg 38:2845-54 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00268-014-2700-2"">10.1007/s00268-014-2700-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26675091"">26675091</a> (marker)
 著者        Karaarslan S, Yurum FN, Kumbaraci BS, Pala EE, Sivrikoz ON, Akyildiz M, Bugdayci MH
 タイトル      The Role of Parafibromin, Galectin-3, HBME-1, and Ki-67 in the Differential Diagnosis of Parathyroid Tumors.
 雑誌        Oman Med J 30:421-7 (2015)
 DOI:<a href=""https://doi.org/10.5001/omj.2015.84"">10.5001/omj.2015.84</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27001435"">27001435</a>
 著者        Cetani F, Pardi E, Marcocci C
 タイトル      Update on parathyroid carcinoma.
 雑誌        J Endocrinol Invest 39:595-606 (2016)
 DOI:<a href=""https://doi.org/10.1007/s40618-016-0447-3"">10.1007/s40618-016-0447-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21240254"">21240254</a>
 著者        Witteveen JE, Hamdy NA, Dekkers OM, Kievit J, van Wezel T, Teh BT, Romijn JA, Morreau H
 タイトル      Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma.
 雑誌        Mod Pathol 24:688-97 (2011)
 DOI:<a href=""https://doi.org/10.1038/modpathol.2010.236"">10.1038/modpathol.2010.236</a>"
H01559,"中咽頭癌
 上位グループ    頭頸部癌 [DS:H02420]
 固形腫瘍 [DS:H02421]",,,"Oropharyngeal cancer is a generic term that includes tumors arising within the anatomic confines of the posterior pharyngeal wall, soft palate, tonsillar region and posterior one-third (base) of the tongue. The vast majority of these tumors (>95%) includes squamous cell carcinomas of mucosal origin. Oropharyngeal squamous cell carcinomas (OPSCCs) are traditionally categorized as head and neck squamous cell carcinoma (HNSCC). High-risk human papillomavirus (HR-HPV) is now recognised as a causative agent in a subset of OPSCCs. HPV-driven OPSCC and tobacco- and alcohol-related OPSCC are biologically distinct entities. In the former, p53 and pRb are both inactivated at the protein level by, respectively, E6 and E7 viral oncoproteins. The majority of HPV-negative tumors, instead, harbor mutations in the TP53 gene, an increased epidermal growth factor receptor (EGFR) gene copy number and higher EGFR expression by immunohistochemistry (IHC).",がん,,"TP53 (mutation) [HSA:7157] [KO:K04451]
 EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]",,,"Tobacco
 Alcohol
 Areca nut
 病原体         Human papillomavirus type 16 [GN:T40087]","シクロホスファミド水和物 [DR:D00287]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]",,"ICD-11: 2B6A
 ICD-10: C10
 MeSH: D009959","PMID:26152442 (pathogen)
 著者        Moore KA 2nd, Mehta V
 タイトル      The Growing Epidemic of HPV-Positive Oropharyngeal Carcinoma: A Clinical Review for Primary Care Providers.
 雑誌        J Am Board Fam Med 28:498-503 (2015)
 DOI:10.3122/jabfm.2015.04.140301
 PMID:24578320 (description, gene, pathogen, drug)
 著者        Urban D, Corry J, Rischin D
 タイトル      What is the best treatment for patients with human papillomavirus-positive and -negative oropharyngeal cancer?
 雑誌        Cancer 120:1462-70 (2014)
 DOI:10.1002/cncr.28595
 PMID:26547133 (description, marker, gene, carcinogen, pathogen)
 著者        Boscolo-Rizzo P, Pawlita M, Holzinger D
 タイトル      From HPV-positive towards HPV-driven oropharyngeal squamous cell carcinomas.
 雑誌        Cancer Treat Rev 42:24-9 (2016)
 DOI:10.1016/j.ctrv.2015.10.009
 PMID:24424107 (description, gene, pathogen)
 著者        Mirghani H, Amen F, Moreau F, Guigay J, Hartl DM, Lacau St Guily J
 タイトル      Oropharyngeal cancers: relationship between epidermal growth factor receptor alterations and human papillomavirus status.
 雑誌        Eur J Cancer 50:1100-11 (2014)
 DOI:10.1016/j.ejca.2013.12.018
 PMID:11796235 (carcinogen, pathogen)
 著者        Licitra L, Bernier J, Grandi C, Merlano M, Bruzzi P, Lefebvre JL
 タイトル      Cancer of the oropharynx.
 雑誌        Crit Rev Oncol Hematol 41:107-22 (2002)
 DOI:10.1016/S1040-8428(01)00129-9
 PMID:19111679 (carcinogen, pathogen, drug, ICD-O-3)
 著者        Duvvuri U, Myers JN
 タイトル      Contemporary management of oropharyngeal cancer: anatomy and physiology of the oropharynx.
 雑誌        Curr Probl Surg 46:119-84 (2009)
 DOI:10.1067/j.cpsurg.2008.10.003
 PMID:20920878
 著者        van Monsjou HS, Balm AJ, van den Brekel MM, Wreesmann VB
 タイトル      Oropharyngeal squamous cell carcinoma: a unique disease on the rise?
 雑誌        Oral Oncol 46:780-5 (2010)
 DOI:10.1016/j.oraloncology.2010.08.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01559"">H01559</a>","中咽頭癌
 上位グループ    頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Oropharyngeal cancer is a generic term that includes tumors arising within the anatomic confines of the posterior pharyngeal wall, soft palate, tonsillar region and posterior one-third (base) of the tongue. The vast majority of these tumors (>95%) includes squamous cell carcinomas of mucosal origin. Oropharyngeal squamous cell carcinomas (OPSCCs) are traditionally categorized as head and neck squamous cell carcinoma (HNSCC). High-risk human papillomavirus (HR-HPV) is now recognised as a causative agent in a subset of OPSCCs. HPV-driven OPSCC and tobacco- and alcohol-related OPSCC are biologically distinct entities. In the former, p53 and pRb are both inactivated at the protein level by, respectively, E6 and E7 viral oncoproteins. The majority of HPV-negative tumors, instead, harbor mutations in the TP53 gene, an increased epidermal growth factor receptor (EGFR) gene copy number and higher EGFR expression by immunohistochemistry (IHC).",,"TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 EGFR (amplification, overexpression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]",,,"Tobacco
 Alcohol
 Areca nut
 病原体         Human papillomavirus type 16 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40087"">T40087</a>]","シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]",,"ICD-11: 2B6A
 ICD-10: C10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009959"">D009959</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26152442"">26152442</a> (pathogen)
 著者        Moore KA 2nd, Mehta V
 タイトル      The Growing Epidemic of HPV-Positive Oropharyngeal Carcinoma: A Clinical Review for Primary Care Providers.
 雑誌        J Am Board Fam Med 28:498-503 (2015)
 DOI:<a href=""https://doi.org/10.3122/jabfm.2015.04.140301"">10.3122/jabfm.2015.04.140301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24578320"">24578320</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Urban D, Corry J, Rischin D
 タイトル      What is the best treatment for patients with human papillomavirus-positive and -negative oropharyngeal cancer?
 雑誌        Cancer 120:1462-70 (2014)
 DOI:<a href=""https://doi.org/10.1002/cncr.28595"">10.1002/cncr.28595</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26547133"">26547133</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen,"">carcinogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Boscolo-Rizzo P, Pawlita M, Holzinger D
 タイトル      From HPV-positive towards HPV-driven oropharyngeal squamous cell carcinomas.
 雑誌        Cancer Treat Rev 42:24-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ctrv.2015.10.009"">10.1016/j.ctrv.2015.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24424107"">24424107</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Mirghani H, Amen F, Moreau F, Guigay J, Hartl DM, Lacau St Guily J
 タイトル      Oropharyngeal cancers: relationship between epidermal growth factor receptor alterations and human papillomavirus status.
 雑誌        Eur J Cancer 50:1100-11 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ejca.2013.12.018"">10.1016/j.ejca.2013.12.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11796235"">11796235</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen)"">pathogen)</a>
 著者        Licitra L, Bernier J, Grandi C, Merlano M, Bruzzi P, Lefebvre JL
 タイトル      Cancer of the oropharynx.
 雑誌        Crit Rev Oncol Hematol 41:107-22 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1040-8428(01)00129-9"">10.1016/S1040-8428(01)00129-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19111679"">19111679</a> (carcinogen, <a href=""https://pubmed.ncbi.nlm.nih.gov/pathogen,"">pathogen,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug,"">drug,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ICD-O-3)"">ICD-O-3)</a>
 著者        Duvvuri U, Myers JN
 タイトル      Contemporary management of oropharyngeal cancer: anatomy and physiology of the oropharynx.
 雑誌        Curr Probl Surg 46:119-84 (2009)
 DOI:<a href=""https://doi.org/10.1067/j.cpsurg.2008.10.003"">10.1067/j.cpsurg.2008.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920878"">20920878</a>
 著者        van Monsjou HS, Balm AJ, van den Brekel MM, Wreesmann VB
 タイトル      Oropharyngeal squamous cell carcinoma: a unique disease on the rise?
 雑誌        Oral Oncol 46:780-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.oraloncology.2010.08.011"">10.1016/j.oraloncology.2010.08.011</a>"
H01560,"アルハムラ出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Alkhumra hemorrhagic fever is a severe, often fatal, infectious disease caused by Alkhumra hemorrhagic fever virus (AHFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. AHFV was first isolated in 1994-1995 in the Al Khumra district, Jeddah, Saudi Arabia. Full genome sequencing has indicated that AHFV is a distinct variant of Kyasanur Forest disease virus.",感染症,,,Alkhumra hemorrhagic fever virus [GN:T40050],,,,,"ICD-11: 1D4C
 ICD-10: A98.8
 MeSH: D004669","PMID:25096447
 著者        Madani TA, Azhar EI, Abuelzein el-TM, Kao M, Al-Bar HM, Farraj SA, Masri BE, Al-Kaiedi NA, Shakil S, Sohrab SS, SantaLucia J Jr, Ksiazek TG
 タイトル      Complete genome sequencing and genetic characterization of Alkhumra hemorrhagic fever virus isolated from Najran, Saudi Arabia.
 雑誌        Intervirology 57:300-10 (2014)
 DOI:10.1159/000362334
 PMID:20920527 (marker)
 著者        Madani TA, Azhar EI, Abuelzein el-TM, Kao M, Al-Bar HM, Abu-Araki H, Niedrig M, Ksiazek TG
 タイトル      Alkhumra (Alkhurma) virus outbreak in Najran, Saudi Arabia: epidemiological, clinical, and laboratory characteristics.
 雑誌        J Infect 62:67-76 (2011)
 DOI:10.1016/j.jinf.2010.09.032
 PMID:21122217
 著者        Alzahrani AG, Al Shaiban HM, Al Mazroa MA, Al-Hayani O, Macneil A, Rollin PE, Memish ZA
 タイトル      Alkhurma hemorrhagic fever in humans, Najran, Saudi Arabia.
 雑誌        Emerg Infect Dis 16:1882-8 (2010)
 DOI:10.3201/eid1612.100417","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01560"">H01560</a>","アルハムラ出血熱
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Alkhumra hemorrhagic fever is a severe, often fatal, infectious disease caused by Alkhumra hemorrhagic fever virus (AHFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. AHFV was first isolated in 1994-1995 in the Al Khumra district, Jeddah, Saudi Arabia. Full genome sequencing has indicated that AHFV is a distinct variant of Kyasanur Forest disease virus.",,,"Alkhumra hemorrhagic fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40050"">T40050</a>]",,,,,"ICD-11: 1D4C
 ICD-10: A98.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004669"">D004669</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25096447"">25096447</a>
 著者        Madani TA, Azhar EI, Abuelzein el-TM, Kao M, Al-Bar HM, Farraj SA, Masri BE, Al-Kaiedi NA, Shakil S, Sohrab SS, SantaLucia J Jr, Ksiazek TG
 タイトル      Complete genome sequencing and genetic characterization of Alkhumra hemorrhagic fever virus isolated from Najran, Saudi Arabia.
 雑誌        Intervirology 57:300-10 (2014)
 DOI:<a href=""https://doi.org/10.1159/000362334"">10.1159/000362334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920527"">20920527</a> (marker)
 著者        Madani TA, Azhar EI, Abuelzein el-TM, Kao M, Al-Bar HM, Abu-Araki H, Niedrig M, Ksiazek TG
 タイトル      Alkhumra (Alkhurma) virus outbreak in Najran, Saudi Arabia: epidemiological, clinical, and laboratory characteristics.
 雑誌        J Infect 62:67-76 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.jinf.2010.09.032"">10.1016/j.jinf.2010.09.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21122217"">21122217</a>
 著者        Alzahrani AG, Al Shaiban HM, Al Mazroa MA, Al-Hayani O, Macneil A, Rollin PE, Memish ZA
 タイトル      Alkhurma hemorrhagic fever in humans, Najran, Saudi Arabia.
 雑誌        Emerg Infect Dis 16:1882-8 (2010)
 DOI:<a href=""https://doi.org/10.3201/eid1612.100417"">10.3201/eid1612.100417</a>"
H01561,"キアリ奇形;
 アーノルド・キアリ症候群",,,"Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal cord which may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformations are acquired after birth. Causes of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils. Chiari malformations were classified by Hans Chiari in 1891, into four groups. Chiari malformation type I (CM I), the most frequent of Chiari malformations, is characterized by the inferior displacement of cerebellar tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior vermis, pons, and medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial abnormalities seen with CM II malformation and a wide foramen magnum. It causes severe neurological defects. CM IV is characterized by marked cerebellar hypoplasia or aplasia.",先天奇形,,,,,,,,"ICD-11: LA03 LA07.4
 ICD-10: Q07.0
 MeSH: D001139
 OMIM: 118420 207950","PMID:22576785
 著者        Grazzi L, Andrasik F
 タイトル      Headaches and Arnold-Chiari syndrome: when to suspect and how to investigate.
 雑誌        Curr Pain Headache Rep 16:350-3 (2012)
 DOI:10.1007/s11916-012-0270-2
 PMID:20228456
 著者        Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B
 タイトル      Congenital Chiari malformations.
 雑誌        Neurol India 58:6-14 (2010)
 DOI:10.4103/0028-3886.60387
 PMID:25653995 (gene, drug)
 著者        Ganesh D, Sagayaraj BM, Barua RK, Sharma N, Ranga U
 タイトル      Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation.
 雑誌        J Clin Diagn Res 8:OD01-3 (2014)
 DOI:10.7860/JCDR/2014/11242.5335
 PMID:23468202
 著者        Welsch M, Antes S, Kiefer M, Meyer S, Eymann R
 タイトル      Association of Chiari malformation and vitamin B12 deficit in a family.
 雑誌        Childs Nerv Syst 29:1193-8 (2013)
 DOI:10.1007/s00381-013-2056-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01561"">H01561</a>","キアリ奇形;
 アーノルド・キアリ症候群","Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal cord which may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformations are acquired after birth. Causes of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils. Chiari malformations were classified by Hans Chiari in 1891, into four groups. Chiari malformation type I (CM I), the most frequent of Chiari malformations, is characterized by the inferior displacement of cerebellar tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior vermis, pons, and medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial abnormalities seen with CM II malformation and a wide foramen magnum. It causes severe neurological defects. CM IV is characterized by marked cerebellar hypoplasia or aplasia.",,,,,,,,"ICD-11: LA03 LA07.4
 ICD-10: Q07.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001139"">D001139</a>
 OMIM: <a href=""https://www.omim.org/entry/118420"">118420</a> <a href=""https://www.omim.org/entry/207950"">207950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22576785"">22576785</a>
 著者        Grazzi L, Andrasik F
 タイトル      Headaches and Arnold-Chiari syndrome: when to suspect and how to investigate.
 雑誌        Curr Pain Headache Rep 16:350-3 (2012)
 DOI:<a href=""https://doi.org/10.1007/s11916-012-0270-2"">10.1007/s11916-012-0270-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20228456"">20228456</a>
 著者        Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B
 タイトル      Congenital Chiari malformations.
 雑誌        Neurol India 58:6-14 (2010)
 DOI:<a href=""https://doi.org/10.4103/0028-3886.60387"">10.4103/0028-3886.60387</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25653995"">25653995</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Ganesh D, Sagayaraj BM, Barua RK, Sharma N, Ranga U
 タイトル      Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation.
 雑誌        J Clin Diagn Res 8:OD01-3 (2014)
 DOI:<a href=""https://doi.org/10.7860/JCDR/2014/11242.5335"">10.7860/JCDR/2014/11242.5335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23468202"">23468202</a>
 著者        Welsch M, Antes S, Kiefer M, Meyer S, Eymann R
 タイトル      Association of Chiari malformation and vitamin B12 deficit in a family.
 雑誌        Childs Nerv Syst 29:1193-8 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00381-013-2056-1"">10.1007/s00381-013-2056-1</a>"
H01562,"パトー症候群;
 13 トリソミー",,,"Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. It is one of the least common autosomal trisomies among live births with an estimated prevalence of 1:12000 - 1:29000 in newborns. The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia. Median survival time for patients with trisomy 13 is between 7 and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life. Survival beyond the first year has been associated with mosaicism.",染色体異常,,,,,,,,"ICD-11: LD40.1
 ICD-10: Q91
 MeSH: C536305","PMID:23220825
 著者        Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D
 タイトル      Longevity and Patau syndrome: what determines survival?
 雑誌        BMJ Case Rep 2012:bcr0620114381 (2012)
 DOI:10.1136/bcr-06-2011-4381
 PMID:23613355
 著者        Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF
 タイトル      Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
 雑誌        Am J Med Genet A 161A:1278-83 (2013)
 DOI:10.1002/ajmg.a.35863","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01562"">H01562</a>","パトー症候群;
 13 トリソミー","Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. It is one of the least common autosomal trisomies among live births with an estimated prevalence of 1:12000 - 1:29000 in newborns. The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia. Median survival time for patients with trisomy 13 is between 7 and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life. Survival beyond the first year has been associated with mosaicism.",,,,,,,,"ICD-11: LD40.1
 ICD-10: Q91
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536305"">C536305</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23220825"">23220825</a>
 著者        Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D
 タイトル      Longevity and Patau syndrome: what determines survival?
 雑誌        BMJ Case Rep 2012:bcr0620114381 (2012)
 DOI:<a href=""https://doi.org/10.1136/bcr-06-2011-4381"">10.1136/bcr-06-2011-4381</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23613355"">23613355</a>
 著者        Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF
 タイトル      Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
 雑誌        Am J Med Genet A 161A:1278-83 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35863"">10.1002/ajmg.a.35863</a>"
H01563,HIV感染症,,,"The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS). Two types of HIV has been characterized. HIV-1 is the most virulent and pathogenic strain. Worldwide, the predominant virus is HIV-1. The relatively uncommon HIV-2 type is concentrated in West Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed efforts to develop antiviral agents. The licenced anti-HIV drugs fall into some categories: reverse transcriptase inhibitors (NRTIs and NNRTIs), integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV infection was seminal in reducing the morbidity and mortality associated with HIV infection and progression to AIDS. Combination antiretroviral therapy dramatically suppresses HIV replication and reduces the plasma HIV-1 viral load, resulting in significant reconstitution of the immune system. Genetic susceptibility to HIV infection and AIDS progression is variable among individuals and populations, and in part genetically determined. Genetic variants of genes encoding HIV co-receptors and their chemokine ligands have been described, and some of these variants were associated with resistance to HIV infection and/or disease progression.",感染症,"nt06121  TLR signaling (viruses and bacteria)
 nt06123  TNF signaling (viruses and bacteria)
 nt06124  Chemokine signaling (viruses)
 nt06129  MHC presentation (viruses)
 nt06130  Cell cycle (viruses)
 nt06131  Apoptosis (viruses and bacteria)
 nt06134  CGAS-STING signaling (viruses and bacteria)
 nt06150  Cytokine-cytokine receptor interaction (viruses)
 nt06161  Human immunodeficiency virus type 1 (HIV-1)","CCR5 (resistance) [HSA:1234] [KO:K04180]
 CCR2 (resistance) [HSA:729230] [KO:K04177]
 TLR3 (resistance) [HSA:7098] [KO:K05401]
 CXCL12 (resistance) [HSA:6387] [KO:K10031]
 CCL2 (resistance) [HSA:6347] [KO:K14624]
 CCL3 (resistance) [HSA:6348] [KO:K05408]
 CCL11 (resistance) [HSA:6356] [KO:K16597]
 IL10 (susceptibility) [HSA:3586] [KO:K05443]
 CD209 (susceptibility) [HSA:30835] [KO:K06563]
 HLA-C (susceptibility) [HSA:3107] [KO:K06751]
 CCL3L1 (susceptibility) [HSA:6349] [KO:K05408]
 IFNG (rapid progression) [HSA:3458] [KO:K04687]
 CX3CR1 (rapid progression) [HSA:1524] [KO:K04192]
 CXCR1 (slow progression) [HSA:3577] [KO:K04175]
 IL4R (slow progression) [HSA:3566] [KO:K05071]
 CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499]
 KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980]","Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
 Human immunodeficiency virus 2 (HIV-2) [GN:T40002]",,,"リトナビル [DR:D00427]
 ホスアンプレナビルカルシウム水和物 [DR:D02867]
 アタザナビル硫酸塩 [DR:D01276]
 ダルナビルエタノール付加物 [DR:D06478]
 ジドブジン [DR:D00413]
 ラミブジン [DR:D00353]
 アバカビル硫酸塩 [DR:D00891]
 テノホビルジソプロキシルフマル酸塩 [DR:D01982]
 エムトリシタビン [DR:D01199]
 ネビラピン [DR:D00435]
 エファビレンツ [DR:D00896]
 エトラビリン [DR:D04112]
 リルピビリン [DR:D09720]
 リルピビリン塩酸塩 [DR:D09958]
 ドラビリン [DR:D10624]
 ラルテグラビルカリウム [DR:D07133]
 ドルテグラビルナトリウム [DR:D10113]
 カボテグラビル [DR:D10548]
 カボテグラビルナトリウム [DR:D10549]
 ジドブジン・ラミブジン [DR:D07507]
 アバカビル硫酸塩・ラミブジン [DR:D08775]
 エムトリシタビン・テノホビルジソプロキシルフマル酸塩 [DR:D02297]
 エルビテグラビル・コビシスタット・エムトリシタビン・テノホビルジソプロキシル [DR:D10756]
 ロピナビル・リトナビル [DR:D02498]
 ドルテグラビル・アバカビル・ラミブジン [DR:D10600]
 ダルナビルエタノール付加物・コビシスタット [DR:D10832]
 エムトリシタビン・テノホビルアラフェナミド [DR:D10835]
 エルビテグラビル・コビシスタット・エムトリシタビン・テノホビルアラフェナミド [DR:D10755]
 エムトリシタビン・リルピビリン・テノホビルアラフェナミド [DR:D10836]
 ビクテグラビル・エムトリシタビン・テノホビルアラフェナミド [DR:D11039]
 ドルテグラビルナトリウム・リルピビリン塩酸塩 [DR:D11282]
 ダルナビル・コビシスタット・エムトリシタビン・テノホビルアラフェナミド [DR:D11382]
 ドルテグラビル・ラミブジン [DR:D11522]
 マラビロク [DR:D06670] (CCR5指向性)
 エンフビルチド [DR:D02499]
 エルビテグラビル [DR:D06677]",See also H00406 Acquired immunodeficiency syndrome (AIDS).,"ICD-11: 1C62
 ICD-10: B24
 MeSH: D015658
 OMIM: 609423","PMID:21838892
 著者        Yousaf MZ, Zia S, Babar ME, Ashfaq UA
 タイトル      The epidemic of HIV/AIDS in developing countries; the current scenario in Pakistan.
 雑誌        Virol J 8:401 (2011)
 DOI:10.1186/1743-422X-8-401
 PMID:20149939 (CCR5)
 著者        An P, Winkler CA
 タイトル      Host genes associated with HIV/AIDS: advances in gene discovery.
 雑誌        Trends Genet 26:119-31 (2010)
 DOI:10.1016/j.tig.2010.01.002
 PMID:16978874 (CCR5, CCR2, CX3CR1, CCL3, CCL4, CCL5, CXCL12)
 著者        Arenzana-Seisdedos F, Parmentier M
 タイトル      Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands.
 雑誌        Semin Immunol 18:387-403 (2006)
 DOI:10.1016/j.smim.2006.07.007
 PMID:15167933 (CCR5, CCR2, CCL5, CXCL12, CXCR6, CCL2, CCL7. CCL11, IL10)
 著者        O'Brien SJ, Nelson GW
 タイトル      Human genes that limit AIDS.
 雑誌        Nat Genet 36:565-74 (2004)
 DOI:10.1038/ng1369
 PMID:22174453 (TLR3)
 著者        Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, Macias J, Pineda JA, Caruz A, Clerici M
 タイトル      A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.
 雑誌        J Immunol 188:818-23 (2012)
 DOI:10.4049/jimmunol.1102179
 PMID:11121048 (IL10)
 著者        Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW
 タイトル      Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.
 雑誌        Proc Natl Acad Sci U S A 97:14467-72 (2000)
 DOI:10.1073/pnas.97.26.14467
 PMID:15564514 (CD209)
 著者        Martin MP, Lederman MM, Hutcheson HB, Goedert JJ, Nelson GW, van Kooyk Y, Detels R, Buchbinder S, Hoots K, Vlahov D, O'Brien SJ, Carrington M
 タイトル      Association of DC-SIGN promoter polymorphism with increased risk for parenteral, but not mucosal, acquisition of human immunodeficiency virus type 1 infection.
 雑誌        J Virol 78:14053-6 (2004)
 DOI:10.1128/JVI.78.24.14053-14056.2004
 PMID:30128812 (HLA-C)
 著者        Bardeskar NS, Chavan V, Ahir-Bist S, Nanavati R, Samant-Mavani P, Mehta P, Mania-Pramanik J
 タイトル      Human leukocyte antigen (HLA)-C and its association with HIV-1 transmission in discordant couple and mother-to-child cohorts.
 雑誌        Immunogenetics 70:633-638 (2018)
 DOI:10.1007/s00251-018-1075-1
 PMID:19812560 (CCL3L1)
 著者        Urban TJ, Weintrob AC, Fellay J, Colombo S, Shianna KV, Gumbs C, Rotger M, Pelak K, Dang KK, Detels R, Martinson JJ, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Telenti A, Michael NL, Goldstein DB
 タイトル      CCL3L1 and HIV/AIDS susceptibility.
 雑誌        Nat Med 15:1110-2 (2009)
 DOI:10.1038/nm1009-1110
 PMID:12854077 (IFNG)
 著者        An P, Vlahov D, Margolick JB, Phair J, O'Brien TR, Lautenberger J, O'Brien SJ, Winkler CA
 タイトル      A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.
 雑誌        J Infect Dis 188:228-31 (2003)
 DOI:10.1086/376455
 PMID:10731151 (CX3CR1)
 著者        Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, Autran B, Delfraissy JF, McDermott DH, Murphy PM, Debre P, Theodorou I, Combadiere C
 タイトル      Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.
 雑誌        Science 287:2274-7 (2000)
 DOI:10.1126/science.287.5461.2274
 PMID:17360650 (CXCR1)
 著者        Vasilescu A, Terashima Y, Enomoto M, Heath S, Poonpiriya V, Gatanaga H, Do H, Diop G, Hirtzig T, Auewarakul P, Lauhakirti D, Sura T, Charneau P, Marullo S, Therwath A, Oka S, Kanegasaki S, Lathrop M, Matsushima K, Zagury JF, Matsuda F
 タイトル      A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients.
 雑誌        Proc Natl Acad Sci U S A 104:3354-9 (2007)
 DOI:10.1073/pnas.0611670104
 PMID:16189667 (IL4R)
 著者        Soriano A, Lozano F, Oliva H, Garcia F, Nomdedeu M, De Lazzari E, Rodriguez C, Barrasa A, Lorenzo JI, Del Romero J, Plana M, Miro JM, Gatell JM, Vives J, Gallart T
 タイトル      Polymorphisms in the interleukin-4 receptor alpha chain gene influence susceptibility to HIV-1 infection and its progression to AIDS.
 雑誌        Immunogenetics 57:644-54 (2005)
 DOI:10.1007/s00251-005-0041-x
 PMID:18976921 (KIR3DL1)
 著者        Carrington M, Martin MP, van Bergen J
 タイトル      KIR-HLA intercourse in HIV disease.
 雑誌        Trends Microbiol 16:620-7 (2008)
 DOI:10.1016/j.tim.2008.09.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01563"">H01563</a>",HIV感染症,"The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS). Two types of HIV has been characterized. HIV-1 is the most virulent and pathogenic strain. Worldwide, the predominant virus is HIV-1. The relatively uncommon HIV-2 type is concentrated in West Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed efforts to develop antiviral agents. The licenced anti-HIV drugs fall into some categories: reverse transcriptase inhibitors (NRTIs and NNRTIs), integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV infection was seminal in reducing the morbidity and mortality associated with HIV infection and progression to AIDS. Combination antiretroviral therapy dramatically suppresses HIV replication and reduces the plasma HIV-1 viral load, resulting in significant reconstitution of the immune system. Genetic susceptibility to HIV infection and AIDS progression is variable among individuals and populations, and in part genetically determined. Genetic variants of genes encoding HIV co-receptors and their chemokine ligands have been described, and some of these variants were associated with resistance to HIV infection and/or disease progression.","<a href=""https://www.kegg.jp/network/nt06121"">nt06121</a>  TLR signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06123"">nt06123</a>  TNF signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06124"">nt06124</a>  Chemokine signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06129"">nt06129</a>  MHC presentation (viruses)
 <a href=""https://www.kegg.jp/network/nt06130"">nt06130</a>  Cell cycle (viruses)
 <a href=""https://www.kegg.jp/network/nt06131"">nt06131</a>  Apoptosis (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06134"">nt06134</a>  CGAS-STING signaling (viruses and bacteria)
 <a href=""https://www.kegg.jp/network/nt06150"">nt06150</a>  Cytokine-cytokine receptor interaction (viruses)
 <a href=""https://www.kegg.jp/network/nt06161"">nt06161</a>  Human immunodeficiency virus type 1 (HIV-1)","CCR5 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1234"">1234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04180"">K04180</a>]
 CCR2 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729230"">729230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04177"">K04177</a>]
 TLR3 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7098"">7098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05401"">K05401</a>]
 CXCL12 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6387"">6387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10031"">K10031</a>]
 CCL2 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6347"">6347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14624"">K14624</a>]
 CCL3 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6348"">6348</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05408"">K05408</a>]
 CCL11 (resistance) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6356"">6356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16597"">K16597</a>]
 IL10 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3586"">3586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05443"">K05443</a>]
 CD209 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30835"">30835</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06563"">K06563</a>]
 HLA-C (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3107"">3107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 CCL3L1 (susceptibility) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6349"">6349</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05408"">K05408</a>]
 IFNG (rapid progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3458"">3458</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04687"">K04687</a>]
 CX3CR1 (rapid progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1524"">1524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04192"">K04192</a>]
 CXCR1 (slow progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3577"">3577</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04175"">K04175</a>]
 IL4R (slow progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3566"">3566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05071"">K05071</a>]
 CCL5 (delayed/rapid progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6352"">6352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12499"">K12499</a>]
 KIR3DL1 (delayed/rapid progression) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3811"">3811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07980"">K07980</a>]","Human immunodeficiency virus 1 (HIV-1) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40001"">T40001</a>]
 Human immunodeficiency virus 2 (HIV-2) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40002"">T40002</a>]",,,"リトナビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00427"">D00427</a>]
 ホスアンプレナビルカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02867"">D02867</a>]
 アタザナビル硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01276"">D01276</a>]
 ダルナビルエタノール付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06478"">D06478</a>]
 ジドブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00413"">D00413</a>]
 ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00353"">D00353</a>]
 アバカビル硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00891"">D00891</a>]
 テノホビルジソプロキシルフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01982"">D01982</a>]
 エムトリシタビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01199"">D01199</a>]
 ネビラピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00435"">D00435</a>]
 エファビレンツ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00896"">D00896</a>]
 エトラビリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04112"">D04112</a>]
 リルピビリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09720"">D09720</a>]
 リルピビリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09958"">D09958</a>]
 ドラビリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10624"">D10624</a>]
 ラルテグラビルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07133"">D07133</a>]
 ドルテグラビルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10113"">D10113</a>]
 カボテグラビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10548"">D10548</a>]
 カボテグラビルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10549"">D10549</a>]
 ジドブジン・ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07507"">D07507</a>]
 アバカビル硫酸塩・ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08775"">D08775</a>]
 エムトリシタビン・テノホビルジソプロキシルフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02297"">D02297</a>]
 エルビテグラビル・コビシスタット・エムトリシタビン・テノホビルジソプロキシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10756"">D10756</a>]
 ロピナビル・リトナビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02498"">D02498</a>]
 ドルテグラビル・アバカビル・ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10600"">D10600</a>]
 ダルナビルエタノール付加物・コビシスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10832"">D10832</a>]
 エムトリシタビン・テノホビルアラフェナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10835"">D10835</a>]
 エルビテグラビル・コビシスタット・エムトリシタビン・テノホビルアラフェナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10755"">D10755</a>]
 エムトリシタビン・リルピビリン・テノホビルアラフェナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10836"">D10836</a>]
 ビクテグラビル・エムトリシタビン・テノホビルアラフェナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11039"">D11039</a>]
 ドルテグラビルナトリウム・リルピビリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11282"">D11282</a>]
 ダルナビル・コビシスタット・エムトリシタビン・テノホビルアラフェナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11382"">D11382</a>]
 ドルテグラビル・ラミブジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11522"">D11522</a>]
 マラビロク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06670"">D06670</a>] (CCR5指向性)
 エンフビルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02499"">D02499</a>]
 エルビテグラビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06677"">D06677</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00406"">H00406</a> Acquired immunodeficiency syndrome (AIDS).","ICD-11: 1C62
 ICD-10: B24
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015658"">D015658</a>
 OMIM: <a href=""https://www.omim.org/entry/609423"">609423</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21838892"">21838892</a>
 著者        Yousaf MZ, Zia S, Babar ME, Ashfaq UA
 タイトル      The epidemic of HIV/AIDS in developing countries; the current scenario in Pakistan.
 雑誌        Virol J 8:401 (2011)
 DOI:<a href=""https://doi.org/10.1186/1743-422X-8-401"">10.1186/1743-422X-8-401</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20149939"">20149939</a> (CCR5)
 著者        An P, Winkler CA
 タイトル      Host genes associated with HIV/AIDS: advances in gene discovery.
 雑誌        Trends Genet 26:119-31 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.tig.2010.01.002"">10.1016/j.tig.2010.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16978874"">16978874</a> (CCR5, <a href=""https://pubmed.ncbi.nlm.nih.gov/CCR2,"">CCR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CX3CR1,"">CX3CR1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL3,"">CCL3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL4,"">CCL4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL5,"">CCL5,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CXCL12)"">CXCL12)</a>
 著者        Arenzana-Seisdedos F, Parmentier M
 タイトル      Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands.
 雑誌        Semin Immunol 18:387-403 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.smim.2006.07.007"">10.1016/j.smim.2006.07.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15167933"">15167933</a> (CCR5, <a href=""https://pubmed.ncbi.nlm.nih.gov/CCR2,"">CCR2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL5,"">CCL5,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CXCL12,"">CXCL12,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CXCR6,"">CXCR6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL2,"">CCL2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL7."">CCL7.</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CCL11,"">CCL11,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/IL10)"">IL10)</a>
 著者        O'Brien SJ, Nelson GW
 タイトル      Human genes that limit AIDS.
 雑誌        Nat Genet 36:565-74 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1369"">10.1038/ng1369</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22174453"">22174453</a> (TLR3)
 著者        Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, Macias J, Pineda JA, Caruz A, Clerici M
 タイトル      A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.
 雑誌        J Immunol 188:818-23 (2012)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.1102179"">10.4049/jimmunol.1102179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11121048"">11121048</a> (IL10)
 著者        Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW
 タイトル      Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.
 雑誌        Proc Natl Acad Sci U S A 97:14467-72 (2000)
 DOI:<a href=""https://doi.org/10.1073/pnas.97.26.14467"">10.1073/pnas.97.26.14467</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15564514"">15564514</a> (CD209)
 著者        Martin MP, Lederman MM, Hutcheson HB, Goedert JJ, Nelson GW, van Kooyk Y, Detels R, Buchbinder S, Hoots K, Vlahov D, O'Brien SJ, Carrington M
 タイトル      Association of DC-SIGN promoter polymorphism with increased risk for parenteral, but not mucosal, acquisition of human immunodeficiency virus type 1 infection.
 雑誌        J Virol 78:14053-6 (2004)
 DOI:<a href=""https://doi.org/10.1128/JVI.78.24.14053-14056.2004"">10.1128/JVI.78.24.14053-14056.2004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30128812"">30128812</a> (HLA-C)
 著者        Bardeskar NS, Chavan V, Ahir-Bist S, Nanavati R, Samant-Mavani P, Mehta P, Mania-Pramanik J
 タイトル      Human leukocyte antigen (HLA)-C and its association with HIV-1 transmission in discordant couple and mother-to-child cohorts.
 雑誌        Immunogenetics 70:633-638 (2018)
 DOI:<a href=""https://doi.org/10.1007/s00251-018-1075-1"">10.1007/s00251-018-1075-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19812560"">19812560</a> (CCL3L1)
 著者        Urban TJ, Weintrob AC, Fellay J, Colombo S, Shianna KV, Gumbs C, Rotger M, Pelak K, Dang KK, Detels R, Martinson JJ, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Telenti A, Michael NL, Goldstein DB
 タイトル      CCL3L1 and HIV/AIDS susceptibility.
 雑誌        Nat Med 15:1110-2 (2009)
 DOI:<a href=""https://doi.org/10.1038/nm1009-1110"">10.1038/nm1009-1110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12854077"">12854077</a> (IFNG)
 著者        An P, Vlahov D, Margolick JB, Phair J, O'Brien TR, Lautenberger J, O'Brien SJ, Winkler CA
 タイトル      A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.
 雑誌        J Infect Dis 188:228-31 (2003)
 DOI:<a href=""https://doi.org/10.1086/376455"">10.1086/376455</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10731151"">10731151</a> (CX3CR1)
 著者        Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, Autran B, Delfraissy JF, McDermott DH, Murphy PM, Debre P, Theodorou I, Combadiere C
 タイトル      Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.
 雑誌        Science 287:2274-7 (2000)
 DOI:<a href=""https://doi.org/10.1126/science.287.5461.2274"">10.1126/science.287.5461.2274</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17360650"">17360650</a> (CXCR1)
 著者        Vasilescu A, Terashima Y, Enomoto M, Heath S, Poonpiriya V, Gatanaga H, Do H, Diop G, Hirtzig T, Auewarakul P, Lauhakirti D, Sura T, Charneau P, Marullo S, Therwath A, Oka S, Kanegasaki S, Lathrop M, Matsushima K, Zagury JF, Matsuda F
 タイトル      A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients.
 雑誌        Proc Natl Acad Sci U S A 104:3354-9 (2007)
 DOI:<a href=""https://doi.org/10.1073/pnas.0611670104"">10.1073/pnas.0611670104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16189667"">16189667</a> (IL4R)
 著者        Soriano A, Lozano F, Oliva H, Garcia F, Nomdedeu M, De Lazzari E, Rodriguez C, Barrasa A, Lorenzo JI, Del Romero J, Plana M, Miro JM, Gatell JM, Vives J, Gallart T
 タイトル      Polymorphisms in the interleukin-4 receptor alpha chain gene influence susceptibility to HIV-1 infection and its progression to AIDS.
 雑誌        Immunogenetics 57:644-54 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00251-005-0041-x"">10.1007/s00251-005-0041-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18976921"">18976921</a> (KIR3DL1)
 著者        Carrington M, Martin MP, van Bergen J
 タイトル      KIR-HLA intercourse in HIV disease.
 雑誌        Trends Microbiol 16:620-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.tim.2008.09.002"">10.1016/j.tim.2008.09.002</a>"
H01564,"エドワ−ズ症候群;
 18 トリソミー",,,"Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age.",染色体異常,,,,,,,,"ICD-11: LD40.2
 ICD-10: Q91
 MeSH: C580500","PMID:26820816
 著者        Imataka G, Suzumura H, Arisaka O
 タイトル      Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.
 雑誌        Mol Med Rep 13:2457-66 (2016)
 DOI:10.3892/mmr.2016.4806
 PMID:23088440
 著者        Cereda A, Carey JC
 タイトル      The trisomy 18 syndrome.
 雑誌        Orphanet J Rare Dis 7:81 (2012)
 DOI:10.1186/1750-1172-7-81
 PMID:25598039
 著者        Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
 タイトル      Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
 雑誌        Ultrasound Obstet Gynecol 45:530-8 (2015)
 DOI:10.1002/uog.14792","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01564"">H01564</a>","エドワ−ズ症候群;
 18 トリソミー","Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age.",,,,,,,,"ICD-11: LD40.2
 ICD-10: Q91
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580500"">C580500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26820816"">26820816</a>
 著者        Imataka G, Suzumura H, Arisaka O
 タイトル      Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.
 雑誌        Mol Med Rep 13:2457-66 (2016)
 DOI:<a href=""https://doi.org/10.3892/mmr.2016.4806"">10.3892/mmr.2016.4806</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23088440"">23088440</a>
 著者        Cereda A, Carey JC
 タイトル      The trisomy 18 syndrome.
 雑誌        Orphanet J Rare Dis 7:81 (2012)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-7-81"">10.1186/1750-1172-7-81</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25598039"">25598039</a>
 著者        Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
 タイトル      Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
 雑誌        Ultrasound Obstet Gynecol 45:530-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/uog.14792"">10.1002/uog.14792</a>"
H01565,"ウェルニッケ脳症;
 ウェルニッケ・コルサコフ症候群",,,"Wernicke encephalopathy is a rare but serious neurological pathology due to a vitamin B1 deficiency. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hyperemesis gravidarum, starvation, and prolonged intravenous feeding. Most patients present with the triad of ophthalmoplegia, ataxia, and confusion. It can be associated with life-threatening complication like central pontine myelinolysis. When Wernicke encephalopathy is suspected, treatment with high-dose parenteral thiamine (vitamin B1) should be given. If it is not treated promptly or if treatment is inadequate it can lead to death or to the chronic memory disorder, Korsakoff syndrome. Recent studies have suggested that an association exists between Wernicke encephalopathy and genetic polymorphisms in the thiamine transporter (SLC19A2).",神経系疾患; 内分泌代謝疾患,,SLC19A2 [HSA:10560] [KO:K14610],,,,"チアミン塩化物塩酸塩 [DR:D02094]
 ベンフォチアミン [DR:D01255]
 オクトチアミン [DR:D01184]
 ビスベンチアミン [DR:D01284]
 プロスルチアミン [DR:D03286]
 セトチアミン塩酸塩水和物 [DR:D03292]
 チアミンジスルフィド [DR:D03299]
 フルスルチアミン [DR:D03319]
 フルスルチアミン塩酸塩 [DR:D03321]
 チアミンジスルフィド硝化物 [DR:D04890]",,"ICD-11: 5B5A.10
 ICD-10: E51.2
 MeSH: D014899
 OMIM: 277730","PMID:26004883
 著者        Yahia M, Najeh H, Zied H, Khalaf M, Salah AM, Sofienne BM, Laidi B, Hamed J, Hayenne M
 タイトル      Wernicke's encephalopathy: A rare complication of hyperemesis gravidarum.
 雑誌        Anaesth Crit Care Pain Med 34:173-7 (2015)
 DOI:10.1016/j.accpm.2014.09.005
 PMID:24701066
 著者        Kantor S, Prakash S, Chandwani J, Gokhale A, Sarma K, Albahrani MJ
 タイトル      Wernicke's encephalopathy following hyperemesis gravidarum.
 雑誌        Indian J Crit Care Med 18:164-6 (2014)
 DOI:10.4103/0972-5229.128706
 PMID:16015585
 著者        Guerrini I, Thomson AD, Cook CC, McQuillin A, Sharma V, Kopelman M, Reynolds G, Jauhar P, Harper C, Gurling HM
 タイトル      Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).
 雑誌        Am J Med Genet B Neuropsychiatr Genet 137B:17-9 (2005)
 DOI:10.1002/ajmg.b.30194
 PMID:19151162 (drug)
 著者        Kopelman MD, Thomson AD, Guerrini I, Marshall EJ
 タイトル      The Korsakoff syndrome: clinical aspects, psychology and treatment.
 雑誌        Alcohol Alcohol 44:148-54 (2009)
 DOI:10.1093/alcalc/agn118","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01565"">H01565</a>","ウェルニッケ脳症;
 ウェルニッケ・コルサコフ症候群","Wernicke encephalopathy is a rare but serious neurological pathology due to a vitamin B1 deficiency. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hyperemesis gravidarum, starvation, and prolonged intravenous feeding. Most patients present with the triad of ophthalmoplegia, ataxia, and confusion. It can be associated with life-threatening complication like central pontine myelinolysis. When Wernicke encephalopathy is suspected, treatment with high-dose parenteral thiamine (vitamin B1) should be given. If it is not treated promptly or if treatment is inadequate it can lead to death or to the chronic memory disorder, Korsakoff syndrome. Recent studies have suggested that an association exists between Wernicke encephalopathy and genetic polymorphisms in the thiamine transporter (SLC19A2).",,"SLC19A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10560"">10560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14610"">K14610</a>]",,,,"チアミン塩化物塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02094"">D02094</a>]
 ベンフォチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01255"">D01255</a>]
 オクトチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01184"">D01184</a>]
 ビスベンチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01284"">D01284</a>]
 プロスルチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03286"">D03286</a>]
 セトチアミン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03292"">D03292</a>]
 チアミンジスルフィド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03299"">D03299</a>]
 フルスルチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03319"">D03319</a>]
 フルスルチアミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03321"">D03321</a>]
 チアミンジスルフィド硝化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04890"">D04890</a>]",,"ICD-11: 5B5A.10
 ICD-10: E51.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014899"">D014899</a>
 OMIM: <a href=""https://www.omim.org/entry/277730"">277730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26004883"">26004883</a>
 著者        Yahia M, Najeh H, Zied H, Khalaf M, Salah AM, Sofienne BM, Laidi B, Hamed J, Hayenne M
 タイトル      Wernicke's encephalopathy: A rare complication of hyperemesis gravidarum.
 雑誌        Anaesth Crit Care Pain Med 34:173-7 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.accpm.2014.09.005"">10.1016/j.accpm.2014.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24701066"">24701066</a>
 著者        Kantor S, Prakash S, Chandwani J, Gokhale A, Sarma K, Albahrani MJ
 タイトル      Wernicke's encephalopathy following hyperemesis gravidarum.
 雑誌        Indian J Crit Care Med 18:164-6 (2014)
 DOI:<a href=""https://doi.org/10.4103/0972-5229.128706"">10.4103/0972-5229.128706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16015585"">16015585</a>
 著者        Guerrini I, Thomson AD, Cook CC, McQuillin A, Sharma V, Kopelman M, Reynolds G, Jauhar P, Harper C, Gurling HM
 タイトル      Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).
 雑誌        Am J Med Genet B Neuropsychiatr Genet 137B:17-9 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.30194"">10.1002/ajmg.b.30194</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19151162"">19151162</a> (drug)
 著者        Kopelman MD, Thomson AD, Guerrini I, Marshall EJ
 タイトル      The Korsakoff syndrome: clinical aspects, psychology and treatment.
 雑誌        Alcohol Alcohol 44:148-54 (2009)
 DOI:<a href=""https://doi.org/10.1093/alcalc/agn118"">10.1093/alcalc/agn118</a>"
H01566,脚気,,,"Beriberi is the classical syndrome caused by thiamine (vitamin B1) deficiency. Beriberi has two major clinical manifestations, dry beriberi characterized by neurologic manifestations that include peripheral neuropathy and acute encephalopathy, and wet beriberi with cardiovascular involvement including high cardiac output heart failure. Rarely, a fulminant or pernicious variant, termed Shoshin beriberi may occur, and is characterized by cardiovascular collapse. Appropriate management of this form is mandatory since thiamine supplementation leads to rapid recovery while untreated forms are fatal.",内分泌代謝疾患,,,,,,"チアミン塩化物塩酸塩 [DR:D02094]
 ベンフォチアミン [DR:D01255]
 オクトチアミン [DR:D01184]
 ビスベンチアミン [DR:D01284]
 プロスルチアミン [DR:D03286]
 セトチアミン塩酸塩水和物 [DR:D03292]
 チアミンジスルフィド [DR:D03299]
 フルスルチアミン [DR:D03319]
 フルスルチアミン塩酸塩 [DR:D03321]
 チアミンジスルフィド硝化物 [DR:D04890]
 越婢加朮湯 [DR:D06921]
 九味檳榔湯 [DR:D06937]
 五積散 [DR:D06956]
 呉茱萸湯エキス [DR:D06958]
 当帰芍薬散エキス [DR:D07021]
 八味地黄丸エキス [DR:D07031]",,"ICD-11: 5B5A.0
 ICD-10: E51.1
 MeSH: D001602","PMID:25982313
 著者        Dabar G, Harmouche C, Habr B, Riachi M, Jaber B
 タイトル      Shoshin Beriberi in Critically-Ill patients: case series.
 雑誌        Nutr J 14:51 (2015)
 DOI:10.1186/s12937-015-0039-7
 PMID:18660937
 著者        Coelho LS, Hueb JC, Minicucci MF, Azevedo PS, Paiva SA, Zornoff LA
 タイトル      Thiamin deficiency as a cause of reversible cor pulmonale.
 雑誌        Arq Bras Cardiol 91:e7-9 (2008)
 DOI:10.1590/S0066-782X2008001300013
 PMID:23910704 (marker, drug)
 著者        DiNicolantonio JJ, Niazi AK, Lavie CJ, O'Keefe JH, Ventura HO
 タイトル      Thiamine supplementation for the treatment of heart failure: a review of the literature.
 雑誌        Congest Heart Fail 19:214-22 (2013)
 DOI:10.1111/chf.12037","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01566"">H01566</a>",脚気,"Beriberi is the classical syndrome caused by thiamine (vitamin B1) deficiency. Beriberi has two major clinical manifestations, dry beriberi characterized by neurologic manifestations that include peripheral neuropathy and acute encephalopathy, and wet beriberi with cardiovascular involvement including high cardiac output heart failure. Rarely, a fulminant or pernicious variant, termed Shoshin beriberi may occur, and is characterized by cardiovascular collapse. Appropriate management of this form is mandatory since thiamine supplementation leads to rapid recovery while untreated forms are fatal.",,,,,,"チアミン塩化物塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02094"">D02094</a>]
 ベンフォチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01255"">D01255</a>]
 オクトチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01184"">D01184</a>]
 ビスベンチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01284"">D01284</a>]
 プロスルチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03286"">D03286</a>]
 セトチアミン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03292"">D03292</a>]
 チアミンジスルフィド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03299"">D03299</a>]
 フルスルチアミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03319"">D03319</a>]
 フルスルチアミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03321"">D03321</a>]
 チアミンジスルフィド硝化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04890"">D04890</a>]
 越婢加朮湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06921"">D06921</a>]
 九味檳榔湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06937"">D06937</a>]
 五積散 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06956"">D06956</a>]
 呉茱萸湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06958"">D06958</a>]
 当帰芍薬散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07021"">D07021</a>]
 八味地黄丸エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07031"">D07031</a>]",,"ICD-11: 5B5A.0
 ICD-10: E51.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001602"">D001602</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25982313"">25982313</a>
 著者        Dabar G, Harmouche C, Habr B, Riachi M, Jaber B
 タイトル      Shoshin Beriberi in Critically-Ill patients: case series.
 雑誌        Nutr J 14:51 (2015)
 DOI:<a href=""https://doi.org/10.1186/s12937-015-0039-7"">10.1186/s12937-015-0039-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18660937"">18660937</a>
 著者        Coelho LS, Hueb JC, Minicucci MF, Azevedo PS, Paiva SA, Zornoff LA
 タイトル      Thiamin deficiency as a cause of reversible cor pulmonale.
 雑誌        Arq Bras Cardiol 91:e7-9 (2008)
 DOI:<a href=""https://doi.org/10.1590/S0066-782X2008001300013"">10.1590/S0066-782X2008001300013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23910704"">23910704</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        DiNicolantonio JJ, Niazi AK, Lavie CJ, O'Keefe JH, Ventura HO
 タイトル      Thiamine supplementation for the treatment of heart failure: a review of the literature.
 雑誌        Congest Heart Fail 19:214-22 (2013)
 DOI:<a href=""https://doi.org/10.1111/chf.12037"">10.1111/chf.12037</a>"
H01567,"チアミンピロホスホキナーゼ欠損症;
 チアミン代謝異常症候群 5",,,Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that present as episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by mutations TPK1. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression.,先天性代謝疾患,,TPK1 [HSA:27010] [KO:K00949],,,,,"See also H01354 Leigh syndrome, H00990 Microcephaly, Amish type, H01231 Biotin-responsive basal ganglia disease, and H01183 Thiamine-responsive megaloblastic anemia.","ICD-11: 5C5Y
 ICD-10: E51.8
 OMIM: 614458","PMID:25458521
 著者        Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Matakovic L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA
 タイトル      Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
 雑誌        Mol Genet Metab 113:301-6 (2014)
 DOI:10.1016/j.ymgme.2014.09.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01567"">H01567</a>","チアミンピロホスホキナーゼ欠損症;
 チアミン代謝異常症候群 5",Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that present as episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by mutations TPK1. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression.,,"TPK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27010"">27010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00949"">K00949</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01354"">H01354</a> Leigh syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00990"">H00990</a> Microcephaly, Amish type, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01231"">H01231</a> Biotin-responsive basal ganglia disease, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01183"">H01183</a> Thiamine-responsive megaloblastic anemia.","ICD-11: 5C5Y
 ICD-10: E51.8
 OMIM: <a href=""https://www.omim.org/entry/614458"">614458</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25458521"">25458521</a>
 著者        Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Matakovic L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA
 タイトル      Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
 雑誌        Mol Genet Metab 113:301-6 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2014.09.010"">10.1016/j.ymgme.2014.09.010</a>"
H01568,3C 症候群,,,"The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis, and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia, and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, and micrognathia. The phenotypic manifestations can vary and cardiac and cerebellar manifestations are not always present. A recent study identified homozygous sequence variants affecting the KIAA0196 gene, which encodes the WASH (Wiskott-Aldrich Syndrome Protein and SCAR Homolog) complex protein strumpellin as causal to a form of 3C syndrome. Another study showed that a missense variant in CCDC22 is associated with a form of X-linked intellectual disability with features of 3C syndrome.",先天奇形,,"(RTSC1) WASHC5 [HSA:9897] [KO:K18464]
 (RTSC2) CCDC22 [HSA:28952] [KO:K23343]
 (RTSC3) VPS35L [HSA:57020] [KO:K25731]
 (RTSC4) DPYSL5 [HSA:56896] [KO:K07529]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535313
 OMIM: 220210 300963 619135 619435","PMID:11484200
 著者        Leonardi ML, Pai GS, Wilkes B, Lebel RR
 タイトル      Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
 雑誌        Am J Med Genet 102:237-42 (2001)
 DOI:10.1002/ajmg.1449
 PMID:24065355 (WASHC5)
 著者        Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T
 タイトル      A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
 雑誌        J Med Genet 50:819-22 (2013)
 DOI:10.1136/jmedgenet-2013-101715
 PMID:24916641 (CCDC22)
 著者        Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D
 タイトル      Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
 雑誌        Eur J Hum Genet 23:633-8 (2015)
 DOI:10.1038/ejhg.2014.109
 PMID:31712251 (VPS35L)
 著者        Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S
 タイトル      Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
 雑誌        J Med Genet 57:245-253 (2020)
 DOI:10.1136/jmedgenet-2019-106213
 PMID:33894126 (DPYSL5)
 著者        Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thepault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denomme-Pichon AS, Gilbert-Dussardier B, Isidor B, Kury S, Odent S, Redon R, Khanna R, Dobyns WB, Bezieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F
 タイトル      Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
 雑誌        Am J Hum Genet 108:951-961 (2021)
 DOI:10.1016/j.ajhg.2021.04.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01568"">H01568</a>",3C 症候群,"The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis, and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia, and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, and micrognathia. The phenotypic manifestations can vary and cardiac and cerebellar manifestations are not always present. A recent study identified homozygous sequence variants affecting the KIAA0196 gene, which encodes the WASH (Wiskott-Aldrich Syndrome Protein and SCAR Homolog) complex protein strumpellin as causal to a form of 3C syndrome. Another study showed that a missense variant in CCDC22 is associated with a form of X-linked intellectual disability with features of 3C syndrome.",,"(RTSC1) WASHC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9897"">9897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18464"">K18464</a>]
 (RTSC2) CCDC22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28952"">28952</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23343"">K23343</a>]
 (RTSC3) VPS35L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57020"">57020</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25731"">K25731</a>]
 (RTSC4) DPYSL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56896"">56896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07529"">K07529</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535313"">C535313</a>
 OMIM: <a href=""https://www.omim.org/entry/220210"">220210</a> <a href=""https://www.omim.org/entry/300963"">300963</a> <a href=""https://www.omim.org/entry/619135"">619135</a> <a href=""https://www.omim.org/entry/619435"">619435</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11484200"">11484200</a>
 著者        Leonardi ML, Pai GS, Wilkes B, Lebel RR
 タイトル      Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
 雑誌        Am J Med Genet 102:237-42 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1449"">10.1002/ajmg.1449</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24065355"">24065355</a> (WASHC5)
 著者        Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T
 タイトル      A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
 雑誌        J Med Genet 50:819-22 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101715"">10.1136/jmedgenet-2013-101715</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24916641"">24916641</a> (CCDC22)
 著者        Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D
 タイトル      Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
 雑誌        Eur J Hum Genet 23:633-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.109"">10.1038/ejhg.2014.109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31712251"">31712251</a> (VPS35L)
 著者        Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S
 タイトル      Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
 雑誌        J Med Genet 57:245-253 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106213"">10.1136/jmedgenet-2019-106213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33894126"">33894126</a> (DPYSL5)
 著者        Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thepault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denomme-Pichon AS, Gilbert-Dussardier B, Isidor B, Kury S, Odent S, Redon R, Khanna R, Dobyns WB, Bezieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F
 タイトル      Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
 雑誌        Am J Hum Genet 108:951-961 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.04.004"">10.1016/j.ajhg.2021.04.004</a>"
H01569,CHOPS 症候群,,,"CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome. While CHOPS syndrome and Cornelia de Lange syndrome are clinically recognizable distinct entities there is some phenotypic overlap between these two diagnoses.",先天奇形,,AFF4 [HSA:27125] [KO:K15185],,,,,See also H00631.,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616368","PMID:25730767
 著者        Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID
 タイトル      Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
 雑誌        Nat Genet 47:338-44 (2015)
 DOI:10.1038/ng.3229","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01569"">H01569</a>",CHOPS 症候群,"CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome. While CHOPS syndrome and Cornelia de Lange syndrome are clinically recognizable distinct entities there is some phenotypic overlap between these two diagnoses.",,"AFF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27125"">27125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15185"">K15185</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00631."">H00631.</a>","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616368"">616368</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25730767"">25730767</a>
 著者        Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID
 タイトル      Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
 雑誌        Nat Genet 47:338-44 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3229"">10.1038/ng.3229</a>"
H01570,常染色体優性線条体変性症,,,"Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier than the onset of symptoms. Causal gene mutations are discovered in the cyclic nucleotide phosphodiesterase (PDE) genes.",神経系疾患,,"PDE8B [HSA:8622] [KO:K18437]
 PDE10A [HSA:10846] [KO:K18438]",,,,,,"MeSH: C563783
 OMIM: 609161 616922","PMID:20085714
 著者        Appenzeller S, Schirmacher A, Halfter H, Baumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stogbauer F, Ludemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbaumer G
 タイトル      Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
 雑誌        Am J Hum Genet 86:83-7 (2010)
 DOI:10.1016/j.ajhg.2009.12.003
 PMID:15210883
 著者        Kuhlenbaumer G, Ludemann P, Schirmacher A, De Vriendt E, Hunermund G, Young P, Hund-Georgiadis M, Schuierer G, Moller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stogbauer F
 タイトル      Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
 雑誌        Neurology 62:2203-8 (2004)
 DOI:10.1212/01.WNL.0000130485.89814.10
 PMID:26475694
 著者        Barsottini OG, Martins Pde M, Chien HF, Raskin S, Nunes RH, da Rocha AJ, Pedroso JL
 タイトル      Familial striatal degeneration: New mutation and neuroimaging clues.
 雑誌        Neurology 85:1816-8 (2015)
 DOI:10.1212/WNL.0000000000002128
 PMID:26769607
 著者        Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
 タイトル      A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
 雑誌        Mov Disord 30:1964-7 (2015)
 DOI:10.1002/mds.26345
 PMID:27058447
 著者        Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP
 タイトル      De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
 雑誌        Am J Hum Genet 98:763-71 (2016)
 DOI:10.1016/j.ajhg.2016.02.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01570"">H01570</a>",常染色体優性線条体変性症,"Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier than the onset of symptoms. Causal gene mutations are discovered in the cyclic nucleotide phosphodiesterase (PDE) genes.",,"PDE8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8622"">8622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18437"">K18437</a>]
 PDE10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10846"">10846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18438"">K18438</a>]",,,,,,"MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563783"">C563783</a>
 OMIM: <a href=""https://www.omim.org/entry/609161"">609161</a> <a href=""https://www.omim.org/entry/616922"">616922</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20085714"">20085714</a>
 著者        Appenzeller S, Schirmacher A, Halfter H, Baumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stogbauer F, Ludemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbaumer G
 タイトル      Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
 雑誌        Am J Hum Genet 86:83-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.003"">10.1016/j.ajhg.2009.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15210883"">15210883</a>
 著者        Kuhlenbaumer G, Ludemann P, Schirmacher A, De Vriendt E, Hunermund G, Young P, Hund-Georgiadis M, Schuierer G, Moller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stogbauer F
 タイトル      Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
 雑誌        Neurology 62:2203-8 (2004)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000130485.89814.10"">10.1212/01.WNL.0000130485.89814.10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26475694"">26475694</a>
 著者        Barsottini OG, Martins Pde M, Chien HF, Raskin S, Nunes RH, da Rocha AJ, Pedroso JL
 タイトル      Familial striatal degeneration: New mutation and neuroimaging clues.
 雑誌        Neurology 85:1816-8 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000002128"">10.1212/WNL.0000000000002128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26769607"">26769607</a>
 著者        Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
 タイトル      A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
 雑誌        Mov Disord 30:1964-7 (2015)
 DOI:<a href=""https://doi.org/10.1002/mds.26345"">10.1002/mds.26345</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27058447"">27058447</a>
 著者        Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP
 タイトル      De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
 雑誌        Am J Hum Genet 98:763-71 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.02.015"">10.1016/j.ajhg.2016.02.015</a>"
H01571,Singleton-Merten 症候群,,,"Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein 5 (MDA5), causes SMS through dysregulation of the human innate immune response. DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.",先天奇形,,"IFIH1 [HSA:64135] [KO:K12647]
 DDX58 [HSA:23586] [KO:K12646]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.8
 MeSH: C537343
 OMIM: 182250 616298","PMID:23322711
 著者        Feigenbaum A, Muller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC
 タイトル      Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.
 雑誌        Am J Med Genet A 161A:360-70 (2013)
 DOI:10.1002/ajmg.a.35732
 PMID:25620204
 著者        Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nurnberg P, Hohne W, Crow YJ, Feigenbaum A, Hennekam RC
 タイトル      A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
 雑誌        Am J Hum Genet 96:275-82 (2015)
 DOI:10.1016/j.ajhg.2014.12.014
 PMID:25620203
 著者        Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
 タイトル      Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
 雑誌        Am J Hum Genet 96:266-74 (2015)
 DOI:10.1016/j.ajhg.2014.11.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01571"">H01571</a>",Singleton-Merten 症候群,"Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein 5 (MDA5), causes SMS through dysregulation of the human innate immune response. DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.",,"IFIH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64135"">64135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12647"">K12647</a>]
 DDX58 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23586"">23586</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12646"">K12646</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537343"">C537343</a>
 OMIM: <a href=""https://www.omim.org/entry/182250"">182250</a> <a href=""https://www.omim.org/entry/616298"">616298</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23322711"">23322711</a>
 著者        Feigenbaum A, Muller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC
 タイトル      Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.
 雑誌        Am J Med Genet A 161A:360-70 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35732"">10.1002/ajmg.a.35732</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25620204"">25620204</a>
 著者        Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nurnberg P, Hohne W, Crow YJ, Feigenbaum A, Hennekam RC
 タイトル      A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
 雑誌        Am J Hum Genet 96:275-82 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.014"">10.1016/j.ajhg.2014.12.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25620203"">25620203</a>
 著者        Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
 タイトル      Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
 雑誌        Am J Hum Genet 96:266-74 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.11.019"">10.1016/j.ajhg.2014.11.019</a>"
H01572,Cole-Carpenter 症候群,,,"Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was first described in 1987 as a newly recognized type of osteogenesis imperfecta (OI). Despite its apparent extreme rarity, CCS is commonly classified as a separate OI-like disorder. CCS is caused by a specific de novo mutation in P4HB, the gene that encodes protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity. Mutations in SEC24D, a gene encoding a component of the COPII complex machinery, have been reported to cause CCS as well.",先天奇形,,"P4HB [HSA:5034] [KO:K09580]
 SEC24D [HSA:9871] [KO:K14007]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.0
 MeSH: C535963
 OMIM: 112240 616294","PMID:25683117
 著者        Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bachinger HP, Moffatt P
 タイトル      Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
 雑誌        Am J Hum Genet 96:425-31 (2015)
 DOI:10.1016/j.ajhg.2014.12.027
 PMID:25683121
 著者        Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C
 タイトル      Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
 雑誌        Am J Hum Genet 96:432-9 (2015)
 DOI:10.1016/j.ajhg.2015.01.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01572"">H01572</a>",Cole-Carpenter 症候群,"Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was first described in 1987 as a newly recognized type of osteogenesis imperfecta (OI). Despite its apparent extreme rarity, CCS is commonly classified as a separate OI-like disorder. CCS is caused by a specific de novo mutation in P4HB, the gene that encodes protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity. Mutations in SEC24D, a gene encoding a component of the COPII complex machinery, have been reported to cause CCS as well.",,"P4HB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5034"">5034</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09580"">K09580</a>]
 SEC24D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9871"">9871</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14007"">K14007</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: Q78.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535963"">C535963</a>
 OMIM: <a href=""https://www.omim.org/entry/112240"">112240</a> <a href=""https://www.omim.org/entry/616294"">616294</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25683117"">25683117</a>
 著者        Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bachinger HP, Moffatt P
 タイトル      Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
 雑誌        Am J Hum Genet 96:425-31 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.027"">10.1016/j.ajhg.2014.12.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25683121"">25683121</a>
 著者        Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C
 タイトル      Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
 雑誌        Am J Hum Genet 96:432-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.002"">10.1016/j.ajhg.2015.01.002</a>"
H01573,Zimmermann-Laband 症候群,,,"Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis, joint hyperextensibility, hepato(spleno)megaly, and intellectual disability with or without epilepsy. Mutations in KCNH1 and ATP6V1B2 account for a proportion of ZLS.",先天奇形,,"(ZLS1) KCNH1 [HSA:3756] [KO:K04904]
 (ZLS2) ATP6V1B2 [HSA:526] [KO:K02147]
 (ZLS3) KCNN3 [HSA:3782] [KO:K04944]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536725
 OMIM: 135500 616455 618658","PMID:23994350
 著者        Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P
 タイトル      Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
 雑誌        Eur J Med Genet 56:570-6 (2013)
 DOI:10.1016/j.ejmg.2013.08.004
 PMID:25915598 (ZLS1_2)
 著者        Kortum F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K
 タイトル      Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
 雑誌        Nat Genet 47:661-7 (2015)
 DOI:10.1038/ng.3282
 PMID:31155282 (ZLS3)
 著者        Bauer CK, Schneeberger PE, Kortum F, Altmuller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K
 タイトル      Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome.
 雑誌        Am J Hum Genet 104:1139-1157 (2019)
 DOI:10.1016/j.ajhg.2019.04.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01573"">H01573</a>",Zimmermann-Laband 症候群,"Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis, joint hyperextensibility, hepato(spleno)megaly, and intellectual disability with or without epilepsy. Mutations in KCNH1 and ATP6V1B2 account for a proportion of ZLS.",,"(ZLS1) KCNH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3756"">3756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04904"">K04904</a>]
 (ZLS2) ATP6V1B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:526"">526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02147"">K02147</a>]
 (ZLS3) KCNN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3782"">3782</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04944"">K04944</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536725"">C536725</a>
 OMIM: <a href=""https://www.omim.org/entry/135500"">135500</a> <a href=""https://www.omim.org/entry/616455"">616455</a> <a href=""https://www.omim.org/entry/618658"">618658</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23994350"">23994350</a>
 著者        Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P
 タイトル      Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
 雑誌        Eur J Med Genet 56:570-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2013.08.004"">10.1016/j.ejmg.2013.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25915598"">25915598</a> (ZLS1_2)
 著者        Kortum F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K
 タイトル      Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
 雑誌        Nat Genet 47:661-7 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3282"">10.1038/ng.3282</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31155282"">31155282</a> (ZLS3)
 著者        Bauer CK, Schneeberger PE, Kortum F, Altmuller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K
 タイトル      Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome.
 雑誌        Am J Hum Genet 104:1139-1157 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.04.012"">10.1016/j.ajhg.2019.04.012</a>"
H01574,"家族性特発性基底核石灰化症;
 ファール病",,,"Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known metabolic causes such as calcium or phosphorus homeostasis disorders. Currently, autosomal dominant and recessive causative genes have been identified.",神経系疾患,,"(IBGC1) SLC20A2 [HSA:6575] [KO:K14640]
 (IBGC4) PDGFRB [HSA:5159] [KO:K05089]
 (IBGC5) PDGFB [HSA:5155] [KO:K17386]
 (IBGC6) XPR1 [HSA:9213] [KO:K24195]
 (IBGC7) MYORG [HSA:57462] [KO:K24727]
 (IBGC8) JAM2 [HSA:58494] [KO:K06735]",,,,,,"ICD-11: 8A00.1Y
 ICD-10: G23.8
 MeSH: C536275 C537657 C536276
 OMIM: 213600 615007 615483 616413 618317 618824","PMID:22327515 (SLC20A2)
 著者        Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY
 タイトル      Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
 雑誌        Nat Genet 44:254-6 (2012)
 DOI:10.1038/ng.1077
 PMID:23255827 (PDGFRB)
 著者        Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D
 タイトル      Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
 雑誌        Neurology 80:181-7 (2013)
 DOI:10.1212/WNL.0b013e31827ccf34
 PMID:23913003 (PDGFB)
 著者        Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR
 タイトル      Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
 雑誌        Nat Genet 45:1077-82 (2013)
 DOI:10.1038/ng.2723
 PMID:25938945 (XPR1)
 著者        Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G
 タイトル      Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
 雑誌        Nat Genet 47:579-81 (2015)
 DOI:10.1038/ng.3289
 PMID:30656188 (MYORG)
 著者        Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V
 タイトル      MYORG is associated with recessive primary familial brain calcification.
 雑誌        Ann Clin Transl Neurol 6:106-113 (2019)
 DOI:10.1002/acn3.684
 PMID:32142645 (JAM2)
 著者        Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G, Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H
 タイトル      Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
 雑誌        Am J Hum Genet 106:412-421 (2020)
 DOI:10.1016/j.ajhg.2020.02.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01574"">H01574</a>","家族性特発性基底核石灰化症;
 ファール病","Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known metabolic causes such as calcium or phosphorus homeostasis disorders. Currently, autosomal dominant and recessive causative genes have been identified.",,"(IBGC1) SLC20A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6575"">6575</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14640"">K14640</a>]
 (IBGC4) PDGFRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5159"">5159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05089"">K05089</a>]
 (IBGC5) PDGFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5155"">5155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17386"">K17386</a>]
 (IBGC6) XPR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9213"">9213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24195"">K24195</a>]
 (IBGC7) MYORG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57462"">57462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24727"">K24727</a>]
 (IBGC8) JAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58494"">58494</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06735"">K06735</a>]",,,,,,"ICD-11: 8A00.1Y
 ICD-10: G23.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536275"">C536275</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537657"">C537657</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536276"">C536276</a>
 OMIM: <a href=""https://www.omim.org/entry/213600"">213600</a> <a href=""https://www.omim.org/entry/615007"">615007</a> <a href=""https://www.omim.org/entry/615483"">615483</a> <a href=""https://www.omim.org/entry/616413"">616413</a> <a href=""https://www.omim.org/entry/618317"">618317</a> <a href=""https://www.omim.org/entry/618824"">618824</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22327515"">22327515</a> (SLC20A2)
 著者        Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY
 タイトル      Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
 雑誌        Nat Genet 44:254-6 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1077"">10.1038/ng.1077</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23255827"">23255827</a> (PDGFRB)
 著者        Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D
 タイトル      Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
 雑誌        Neurology 80:181-7 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e31827ccf34"">10.1212/WNL.0b013e31827ccf34</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23913003"">23913003</a> (PDGFB)
 著者        Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, Lemos RR, Ordonez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mae MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR
 タイトル      Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
 雑誌        Nat Genet 45:1077-82 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2723"">10.1038/ng.2723</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25938945"">25938945</a> (XPR1)
 著者        Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G
 タイトル      Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
 雑誌        Nat Genet 47:579-81 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3289"">10.1038/ng.3289</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30656188"">30656188</a> (MYORG)
 著者        Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V
 タイトル      MYORG is associated with recessive primary familial brain calcification.
 雑誌        Ann Clin Transl Neurol 6:106-113 (2019)
 DOI:<a href=""https://doi.org/10.1002/acn3.684"">10.1002/acn3.684</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32142645"">32142645</a> (JAM2)
 著者        Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G, Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H
 タイトル      Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
 雑誌        Am J Hum Genet 106:412-421 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.007"">10.1016/j.ajhg.2020.02.007</a>"
H01575,"Roifman 症候群
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,"Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, and characteristic facial dysmorphism. Recently, whole-genome sequencing of Roifman syndrome patients have demonstrated that Roifman syndrome is caused by compound heterozygous single-nucleotide variants (SNVs) in the minor spliceosomal small nuclear RNA (snRNA) gene RNU4ATAC, which was already implicated in a severe congenital disorder, microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) [DS:H00993]. Roifman syndrome is phenotypically distinct from MOPD1.",先天奇形,,RNU4ATAC [HSA:5190] [KO:K13339],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C535866
 OMIM: 616651","PMID:16901296
 著者        de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D
 タイトル      The cognitive and behavioural phenotype of Roifman syndrome.
 雑誌        J Intellect Disabil Res 50:690-6 (2006)
 DOI:10.1111/j.1365-2788.2006.00817.x
 PMID:26522830
 著者        Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW
 タイトル      Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
 雑誌        Nat Commun 6:8718 (2015)
 DOI:10.1038/ncomms9718","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01575"">H01575</a>","Roifman 症候群
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, and characteristic facial dysmorphism. Recently, whole-genome sequencing of Roifman syndrome patients have demonstrated that Roifman syndrome is caused by compound heterozygous single-nucleotide variants (SNVs) in the minor spliceosomal small nuclear RNA (snRNA) gene RNU4ATAC, which was already implicated in a severe congenital disorder, microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00993]."">H00993].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Roifman"">Roifman</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenotypically"">phenotypically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:distinct"">distinct</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MOPD1."">MOPD1.</a>",,"RNU4ATAC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5190"">5190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13339"">K13339</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535866"">C535866</a>
 OMIM: <a href=""https://www.omim.org/entry/616651"">616651</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16901296"">16901296</a>
 著者        de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D
 タイトル      The cognitive and behavioural phenotype of Roifman syndrome.
 雑誌        J Intellect Disabil Res 50:690-6 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2788.2006.00817.x"">10.1111/j.1365-2788.2006.00817.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26522830"">26522830</a>
 著者        Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW
 タイトル      Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
 雑誌        Nat Commun 6:8718 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms9718"">10.1038/ncomms9718</a>"
H01576,Spondyloenchondrodysplasia with immune dysregulation (SPENCDI),,,"Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs).",先天奇形,,ACP5 [HSA:54] [KO:K14379],,,,,,"ICD-11: LD24.3
 MeSH: C564307
 OMIM: 607944","PMID:26951490
 著者        Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Burgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
 タイトル      Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
 雑誌        J Clin Immunol 36:220-34 (2016)
 DOI:10.1007/s10875-016-0252-y
 PMID:21217752
 著者        Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A
 タイトル      Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
 雑誌        Nat Genet 43:132-7 (2011)
 DOI:10.1038/ng.749
 PMID:26346816
 著者        Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA
 タイトル      Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
 雑誌        Pediatr Rheumatol Online J 13:37 (2015)
 DOI:10.1186/s12969-015-0035-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01576"">H01576</a>",Spondyloenchondrodysplasia with immune dysregulation (SPENCDI),"Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs).",,"ACP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54"">54</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14379"">K14379</a>]",,,,,,"ICD-11: LD24.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564307"">C564307</a>
 OMIM: <a href=""https://www.omim.org/entry/607944"">607944</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26951490"">26951490</a>
 著者        Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Burgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
 タイトル      Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
 雑誌        J Clin Immunol 36:220-34 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10875-016-0252-y"">10.1007/s10875-016-0252-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21217752"">21217752</a>
 著者        Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A
 タイトル      Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
 雑誌        Nat Genet 43:132-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.749"">10.1038/ng.749</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26346816"">26346816</a>
 著者        Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA
 タイトル      Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
 雑誌        Pediatr Rheumatol Online J 13:37 (2015)
 DOI:<a href=""https://doi.org/10.1186/s12969-015-0035-7"">10.1186/s12969-015-0035-7</a>"
H01577,本態性振戦,,,"Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or more parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic, and senile, and most studies indicate that ET is a hereditary disorder in more than half of affected individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic, radiologic, or pathological markers.",神経系疾患,,"(ETM1) DRD3 [HSA:1814] [KO:K04146]
 (ETM4) FUS [HSA:2521] [KO:K13098]
 (ETM5) TENM4 [HSA:26011] [KO:K24473]
 (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466]",,,,アロチノロール塩酸塩 [DR:D01830],,"ICD-11: 8A04.1
 ICD-10: G25.0
 MeSH: D020329
 OMIM: 190300 614782 616736 618866","PMID:11565522
 著者        Louis ED
 タイトル      Clinical practice. Essential tremor.
 雑誌        N Engl J Med 345:887-91 (2001)
 DOI:10.1056/NEJMcp010928
 PMID:17353225
 著者        Deng H, Le W, Jankovic J
 タイトル      Genetics of essential tremor.
 雑誌        Brain 130:1456-64 (2007)
 DOI:10.1093/brain/awm018
 PMID:19092771
 著者        Lorenz D, Klebe S, Stevanin G, Thier S, Nebel A, Feingold J, Frederiksen H, Denis E, Christensen K, Schreiber S, Brice A, Deuschl G, Durr A
 タイトル      Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
 雑誌        Eur J Hum Genet 17:766-73 (2009)
 DOI:10.1038/ejhg.2008.243
 PMID:22863194
 著者        Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA
 タイトル      Exome sequencing identifies FUS mutations as a cause of essential tremor.
 雑誌        Am J Hum Genet 91:313-9 (2012)
 DOI:10.1016/j.ajhg.2012.07.002
 PMID:26188006
 著者        Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jimenez-Jimenez FJ, Gironell A, Clarimon J, Drechsel O, Agundez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleo A, Coria F, Garcia-Martin E, Alonso-Navarro H, Marti MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X
 タイトル      Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
 雑誌        Hum Mol Genet 24:5677-86 (2015)
 DOI:10.1093/hmg/ddv281
 PMID:32516806
 著者        Yau WY, O'Connor E, Chen Z, Vandrovcova J, Wood NW, Houlden H
 タイトル      GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
 雑誌        Brain 143:e57 (2020)
 DOI:10.1093/brain/awaa144","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01577"">H01577</a>",本態性振戦,"Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or more parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic, and senile, and most studies indicate that ET is a hereditary disorder in more than half of affected individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic, radiologic, or pathological markers.",,"(ETM1) DRD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1814"">1814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04146"">K04146</a>]
 (ETM4) FUS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2521"">2521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13098"">K13098</a>]
 (ETM5) TENM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26011"">26011</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24473"">K24473</a>]
 (ETM6) NOTCH2NLC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100996717"">100996717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24466"">K24466</a>]",,,,"アロチノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01830"">D01830</a>]",,"ICD-11: 8A04.1
 ICD-10: G25.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020329"">D020329</a>
 OMIM: <a href=""https://www.omim.org/entry/190300"">190300</a> <a href=""https://www.omim.org/entry/614782"">614782</a> <a href=""https://www.omim.org/entry/616736"">616736</a> <a href=""https://www.omim.org/entry/618866"">618866</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11565522"">11565522</a>
 著者        Louis ED
 タイトル      Clinical practice. Essential tremor.
 雑誌        N Engl J Med 345:887-91 (2001)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp010928"">10.1056/NEJMcp010928</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17353225"">17353225</a>
 著者        Deng H, Le W, Jankovic J
 タイトル      Genetics of essential tremor.
 雑誌        Brain 130:1456-64 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm018"">10.1093/brain/awm018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19092771"">19092771</a>
 著者        Lorenz D, Klebe S, Stevanin G, Thier S, Nebel A, Feingold J, Frederiksen H, Denis E, Christensen K, Schreiber S, Brice A, Deuschl G, Durr A
 タイトル      Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
 雑誌        Eur J Hum Genet 17:766-73 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.243"">10.1038/ejhg.2008.243</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22863194"">22863194</a>
 著者        Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA
 タイトル      Exome sequencing identifies FUS mutations as a cause of essential tremor.
 雑誌        Am J Hum Genet 91:313-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.002"">10.1016/j.ajhg.2012.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26188006"">26188006</a>
 著者        Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jimenez-Jimenez FJ, Gironell A, Clarimon J, Drechsel O, Agundez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleo A, Coria F, Garcia-Martin E, Alonso-Navarro H, Marti MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X
 タイトル      Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
 雑誌        Hum Mol Genet 24:5677-86 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv281"">10.1093/hmg/ddv281</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32516806"">32516806</a>
 著者        Yau WY, O'Connor E, Chen Z, Vandrovcova J, Wood NW, Houlden H
 タイトル      GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
 雑誌        Brain 143:e57 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa144"">10.1093/brain/awaa144</a>"
H01578,"スモン;
 亜急性脊髄視神経症",,,"Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset of sensory and motor disorders in the lower half of the body and visual impairment preceded by abdominal symptoms, such as abdominal pain and diarrhea. Despite clinical features mimicking infection or multiple sclerosis, the discovery of the green hairy tongue and the green urine in SMON patients aroused researchers' interest and thereby began solving the cause of SMON. The green color was derived from a chelate compound of clioquinol with ferric iron. A large number of SMON were observed throughout Japan, and the total number of cases reached nearly 10,000 by 1970. After the governmental ban on the use of clioquinol in September 1970, there was a dramatic disappearance of new case of SMON. However, in Japan, there are still more than 2500 SMON patients suffering from severe dysesthesia/paresthesia and ataxic paraplegia.",神経変性疾患,,,,Clioquinol,,"ノイロトロピン [DR:D07630]
 ダントロレンナトリウム水和物 [DR:D02274]
 エペリゾン塩酸塩 [DR:D01671]
 ニコチン酸 [DR:D00049]",,"ICD-11: 8D43.20
 ICD-10: G62.0
 MeSH: D011115","PMID:20548321
 著者        Kimura E, Hirano T, Yamashita S, Hirai T, Uchida Y, Maeda Y, Uchino M
 タイトル      Cervical MRI of subacute myelo-optico-neuropathy.
 雑誌        Spinal Cord 49:182-5 (2011)
 DOI:10.1038/sc.2010.68
 PMID:23222550
 著者        Igata A
 タイトル      Subacute myelooptic neuropathy, beriberi, and HTLVIassociated myelopathy: elucidation of some neurological diseases in Japan.
 雑誌        Pol Arch Med Wewn 122 Suppl 1:32-41 (2012)
 PMID:3210443
 著者        Hata T, Kita T, Itoh E, Oyama R, Kawabata A
 タイトル      Mechanism of the analgesic effect of neurotropin.
 雑誌        Jpn J Pharmacol 48:165-73 (1988)
 DOI:10.1254/jjp.48.165","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01578"">H01578</a>","スモン;
 亜急性脊髄視神経症","Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset of sensory and motor disorders in the lower half of the body and visual impairment preceded by abdominal symptoms, such as abdominal pain and diarrhea. Despite clinical features mimicking infection or multiple sclerosis, the discovery of the green hairy tongue and the green urine in SMON patients aroused researchers' interest and thereby began solving the cause of SMON. The green color was derived from a chelate compound of clioquinol with ferric iron. A large number of SMON were observed throughout Japan, and the total number of cases reached nearly 10,000 by 1970. After the governmental ban on the use of clioquinol in September 1970, there was a dramatic disappearance of new case of SMON. However, in Japan, there are still more than 2500 SMON patients suffering from severe dysesthesia/paresthesia and ataxic paraplegia.",,,,Clioquinol,,"ノイロトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07630"">D07630</a>]
 ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]
 エペリゾン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01671"">D01671</a>]
 ニコチン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00049"">D00049</a>]",,"ICD-11: 8D43.20
 ICD-10: G62.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011115"">D011115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20548321"">20548321</a>
 著者        Kimura E, Hirano T, Yamashita S, Hirai T, Uchida Y, Maeda Y, Uchino M
 タイトル      Cervical MRI of subacute myelo-optico-neuropathy.
 雑誌        Spinal Cord 49:182-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/sc.2010.68"">10.1038/sc.2010.68</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23222550"">23222550</a>
 著者        Igata A
 タイトル      Subacute myelooptic neuropathy, beriberi, and HTLVIassociated myelopathy: elucidation of some neurological diseases in Japan.
 雑誌        Pol Arch Med Wewn 122 Suppl 1:32-41 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3210443"">3210443</a>
 著者        Hata T, Kita T, Itoh E, Oyama R, Kawabata A
 タイトル      Mechanism of the analgesic effect of neurotropin.
 雑誌        Jpn J Pharmacol 48:165-73 (1988)
 DOI:<a href=""https://doi.org/10.1254/jjp.48.165"">10.1254/jjp.48.165</a>"
H01579,Michelin tire baby 症候群,,,"Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain.",先天奇形,,"TUBB [HSA:203068] [KO:K07375]
 MAPRE2 [HSA:10982] [KO:K10436]",,,,,,"ICD-10: Q82.8
 MeSH: C537575
 OMIM: 156610 616734","PMID:26637975
 著者        Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H
 タイトル      Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
 雑誌        Am J Hum Genet 97:790-800 (2015)
 DOI:10.1016/j.ajhg.2015.10.014
 PMID:21381593
 著者        Farooqi GA, Mulla SA, Ahmad M
 タイトル      Michelin tire baby syndrome--a case report and literature review.
 雑誌        J Pak Med Assoc 60:777-9 (2010)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01579"">H01579</a>",Michelin tire baby 症候群,"Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain.",,"TUBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203068"">203068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 MAPRE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10982"">10982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10436"">K10436</a>]",,,,,,"ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537575"">C537575</a>
 OMIM: <a href=""https://www.omim.org/entry/156610"">156610</a> <a href=""https://www.omim.org/entry/616734"">616734</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26637975"">26637975</a>
 著者        Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H
 タイトル      Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
 雑誌        Am J Hum Genet 97:790-800 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.10.014"">10.1016/j.ajhg.2015.10.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21381593"">21381593</a>
 著者        Farooqi GA, Mulla SA, Ahmad M
 タイトル      Michelin tire baby syndrome--a case report and literature review.
 雑誌        J Pak Med Assoc 60:777-9 (2010)"
H01580,"壊血病;
 ビタミン C 欠乏症",,,"Scurvy occurs because of reduced intake or absorption of vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions, fatigue, depression, and sudden death. It appears to result primarily from the decreased synthesis of collagen, a major protein in the body dependent on vitamin C for its biosynthesis. However, this role of vitamin C does not explain all of the manifestations associated with scurvy. At-risk groups include the poor (because of reduced access to groceries), food faddists, and individuals with purported allergies to multiple fruit and vegetable products. Other at-risk groups include persons with gastrointestinal disease (e.g. colitis), anatomical abnormalities, poor dentition, cancer patients on chemotherapy, patients on hemodialysis, and psychiatric disorders (e.g. depression, schizophrenia, or anorexia). Alcoholic persons represent one of the largest groups at risk for scurvy because they may have poorly balanced diets and because alcohol decreases the absorption of vitamin C. The diagnosis of scurvy is generally based on clinical features and dietary history, and there is rapid resolution of signs and symptoms after vitamin C supplementation.",血液疾患; 循環器疾患; 代謝疾患,,,,,,アスコルビン酸 [DR:D00018],,"ICD-11: 5B56
 ICD-10: E54
 MeSH: D012614","PMID:7946525
 著者        Sauberlich HE
 タイトル      Pharmacology of vitamin C.
 雑誌        Annu Rev Nutr 14:371-91 (1994)
 DOI:10.1146/annurev.nu.14.070194.002103
 PMID:16911372 (description, drug)
 著者        Olmedo JM, Yiannias JA, Windgassen EB, Gornet MK
 タイトル      Scurvy: a disease almost forgotten.
 雑誌        Int J Dermatol 45:909-13 (2006)
 DOI:10.1111/j.1365-4632.2006.02844.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01580"">H01580</a>","壊血病;
 ビタミン C 欠乏症","Scurvy occurs because of reduced intake or absorption of vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions, fatigue, depression, and sudden death. It appears to result primarily from the decreased synthesis of collagen, a major protein in the body dependent on vitamin C for its biosynthesis. However, this role of vitamin C does not explain all of the manifestations associated with scurvy. At-risk groups include the poor (because of reduced access to groceries), food faddists, and individuals with purported allergies to multiple fruit and vegetable products. Other at-risk groups include persons with gastrointestinal disease (e.g. colitis), anatomical abnormalities, poor dentition, cancer patients on chemotherapy, patients on hemodialysis, and psychiatric disorders (e.g. depression, schizophrenia, or anorexia). Alcoholic persons represent one of the largest groups at risk for scurvy because they may have poorly balanced diets and because alcohol decreases the absorption of vitamin C. The diagnosis of scurvy is generally based on clinical features and dietary history, and there is rapid resolution of signs and symptoms after vitamin C supplementation.",,,,,,"アスコルビン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00018"">D00018</a>]",,"ICD-11: 5B56
 ICD-10: E54
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012614"">D012614</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7946525"">7946525</a>
 著者        Sauberlich HE
 タイトル      Pharmacology of vitamin C.
 雑誌        Annu Rev Nutr 14:371-91 (1994)
 DOI:<a href=""https://doi.org/10.1146/annurev.nu.14.070194.002103"">10.1146/annurev.nu.14.070194.002103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16911372"">16911372</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Olmedo JM, Yiannias JA, Windgassen EB, Gornet MK
 タイトル      Scurvy: a disease almost forgotten.
 雑誌        Int J Dermatol 45:909-13 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2006.02844.x"">10.1111/j.1365-4632.2006.02844.x</a>"
H01581,IgA 腎症,,,"Primary IgA nephropathy is an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits accompanied by a variety of histopathologic lesions. It is known to be the most prevalent primary chronic glomerular disease worldwide. Because of the critical interaction between an intrinsic antigen (galactose-deficient IgA1) and circulating anti-glycan antibodies, IgA nephropathy can be considered an autoimmune disease. Since the features of IgA nephropathy identified by light microscopy are nonspecific, immunofluorescence or immunoperoxidase studies demonstrating a predominant deposition of IgA are essential to establish a definitive diagnosis of IgA nephropathy. Genetic factors undoubtedly influence the pathogenesis of IgA nephropathy. Genomewide association studies have identified common susceptibility loci in the absence of a priori mechanistic hypotheses.",免疫系疾患; 泌尿器系疾患,,,,,,ジラゼプ塩酸塩水和物 [DR:D02631],,"ICD-11: MF8Y
 ICD-10: N02.8
 MeSH: D005922","PMID:12213946
 著者        Donadio JV, Grande JP
 タイトル      IgA nephropathy.
 雑誌        N Engl J Med 347:738-48 (2002)
 DOI:10.1056/NEJMra020109
 PMID:23782179
 著者        Wyatt RJ, Julian BA
 タイトル      IgA nephropathy.
 雑誌        N Engl J Med 368:2402-14 (2013)
 DOI:10.1056/NEJMra1206793","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01581"">H01581</a>",IgA 腎症,"Primary IgA nephropathy is an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits accompanied by a variety of histopathologic lesions. It is known to be the most prevalent primary chronic glomerular disease worldwide. Because of the critical interaction between an intrinsic antigen (galactose-deficient IgA1) and circulating anti-glycan antibodies, IgA nephropathy can be considered an autoimmune disease. Since the features of IgA nephropathy identified by light microscopy are nonspecific, immunofluorescence or immunoperoxidase studies demonstrating a predominant deposition of IgA are essential to establish a definitive diagnosis of IgA nephropathy. Genetic factors undoubtedly influence the pathogenesis of IgA nephropathy. Genomewide association studies have identified common susceptibility loci in the absence of a priori mechanistic hypotheses.",,,,,,"ジラゼプ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02631"">D02631</a>]",,"ICD-11: MF8Y
 ICD-10: N02.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005922"">D005922</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12213946"">12213946</a>
 著者        Donadio JV, Grande JP
 タイトル      IgA nephropathy.
 雑誌        N Engl J Med 347:738-48 (2002)
 DOI:<a href=""https://doi.org/10.1056/NEJMra020109"">10.1056/NEJMra020109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23782179"">23782179</a>
 著者        Wyatt RJ, Julian BA
 タイトル      IgA nephropathy.
 雑誌        N Engl J Med 368:2402-14 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMra1206793"">10.1056/NEJMra1206793</a>"
H01582,ペラグラ,,,"Pellagra is a remarkable chronic wasting disorder, the late stage of a severe cellular deficiency of niacin (vitamin B3). The classical triad of pellagra is dermatitis, diarrhea and dementia. Early symptoms include lassitude, weakness, loss of appetite, mild digestive disturbances and psychiatric distress. The dermatitis caused by pellagra is a bilaterally symmetrical eruption at cutaneous sites of solar exposure. It tends to be painful to touch during the acute phase and can eventually become so clinically striking that the patient may become ostracized. Untreated pellagra results in death from multiorgan failure. Pellagra used to be a disease of epidemic proportions in the developed world. In the 18th century, it was linked with poverty and subsistence on nutritionally marginal corn-based diets. In the 1940s and 1950s, with expanded biochemical knowledge, pellagra was reformulated as a deficiency disease due to inadequate niacin and its amino acid precursor tryptophan. It is currently seen in association with other conditions of chronic nutritional deficiencies, like alcoholism.",内分泌代謝疾患,,,,,,"フラビンアデニンジヌクレオチドナトリウム [DR:D02011]
 リボフラビンリン酸エステルナトリウム [DR:D01622]
 ニコチン酸アミド [DR:D00036]
 ニコチン酸 [DR:D00049]",,"ICD-11: 5B5C.0
 ICD-10: E52
 MeSH: D010383","PMID:14693013
 著者        Hegyi J, Schwartz RA, Hegyi V
 タイトル      Pellagra: dermatitis, dementia, and diarrhea.
 雑誌        Int J Dermatol 43:1-5 (2004)
 DOI:10.1111/j.1365-4632.2004.01959.x
 PMID:24627570
 著者        Badawy AA
 タイトル      Pellagra and alcoholism: a biochemical perspective.
 雑誌        Alcohol Alcohol 49:238-50 (2014)
 DOI:10.1093/alcalc/agu010
 PMID:19892133 (drug)
 著者        Lanska DJ
 タイトル      Chapter 30: historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins.
 雑誌        Handb Clin Neurol 95:445-76 (2010)
 DOI:10.1016/S0072-9752(08)02130-1
 PMID:16745723 (drug)
 著者        Harris LJ
 タイトル      Flavin and the pellagra-preventing factor as separate constituents of a complex vitamin B(2).
 雑誌        Biochem J 29:776-81 (1935)
 DOI:10.1042/bj0290776","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01582"">H01582</a>",ペラグラ,"Pellagra is a remarkable chronic wasting disorder, the late stage of a severe cellular deficiency of niacin (vitamin B3). The classical triad of pellagra is dermatitis, diarrhea and dementia. Early symptoms include lassitude, weakness, loss of appetite, mild digestive disturbances and psychiatric distress. The dermatitis caused by pellagra is a bilaterally symmetrical eruption at cutaneous sites of solar exposure. It tends to be painful to touch during the acute phase and can eventually become so clinically striking that the patient may become ostracized. Untreated pellagra results in death from multiorgan failure. Pellagra used to be a disease of epidemic proportions in the developed world. In the 18th century, it was linked with poverty and subsistence on nutritionally marginal corn-based diets. In the 1940s and 1950s, with expanded biochemical knowledge, pellagra was reformulated as a deficiency disease due to inadequate niacin and its amino acid precursor tryptophan. It is currently seen in association with other conditions of chronic nutritional deficiencies, like alcoholism.",,,,,,"フラビンアデニンジヌクレオチドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02011"">D02011</a>]
 リボフラビンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01622"">D01622</a>]
 ニコチン酸アミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00036"">D00036</a>]
 ニコチン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00049"">D00049</a>]",,"ICD-11: 5B5C.0
 ICD-10: E52
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010383"">D010383</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14693013"">14693013</a>
 著者        Hegyi J, Schwartz RA, Hegyi V
 タイトル      Pellagra: dermatitis, dementia, and diarrhea.
 雑誌        Int J Dermatol 43:1-5 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2004.01959.x"">10.1111/j.1365-4632.2004.01959.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24627570"">24627570</a>
 著者        Badawy AA
 タイトル      Pellagra and alcoholism: a biochemical perspective.
 雑誌        Alcohol Alcohol 49:238-50 (2014)
 DOI:<a href=""https://doi.org/10.1093/alcalc/agu010"">10.1093/alcalc/agu010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19892133"">19892133</a> (drug)
 著者        Lanska DJ
 タイトル      Chapter 30: historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins.
 雑誌        Handb Clin Neurol 95:445-76 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0072-9752(08)02130-1"">10.1016/S0072-9752(08)02130-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16745723"">16745723</a> (drug)
 著者        Harris LJ
 タイトル      Flavin and the pellagra-preventing factor as separate constituents of a complex vitamin B(2).
 雑誌        Biochem J 29:776-81 (1935)
 DOI:<a href=""https://doi.org/10.1042/bj0290776"">10.1042/bj0290776</a>"
H01583,"ヒドロキシキヌレニン尿症;
 キサンツレン酸尿症;
 キヌレニナーゼ欠損症",,,"Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and kynurenine in urine. This disease is caused by homozygous mutation in the KYNU gene, which encodes kynureninase. Kynureninase is an enzyme in the catabolic pathway of tryptophan metabolism. Some of these deficiencies lead to pellagra or mild pellagra-like symptoms, while it was reported in some patients no symptom of niacin deficiency was observed. The different clinical outcomes could be explained by differences in the intake of niacin. The sufficient intake of niacin could prevent depletion in some patients despite their impaired niacin synthesis.",先天性代謝異常症,,KYNU [HSA:8942] [KO:K01556],,,,,See also H01582 Pellagra.,"ICD-11: 5C50.3
 ICD-10: E70.8
 MeSH: C536081
 OMIM: 236800","PMID:17334708
 著者        Christensen M, Duno M, Lund AM, Skovby F, Christensen E
 タイトル      Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
 雑誌        J Inherit Metab Dis 30:248-55 (2007)
 DOI:10.1007/s10545-007-0396-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01583"">H01583</a>","ヒドロキシキヌレニン尿症;
 キサンツレン酸尿症;
 キヌレニナーゼ欠損症","Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and kynurenine in urine. This disease is caused by homozygous mutation in the KYNU gene, which encodes kynureninase. Kynureninase is an enzyme in the catabolic pathway of tryptophan metabolism. Some of these deficiencies lead to pellagra or mild pellagra-like symptoms, while it was reported in some patients no symptom of niacin deficiency was observed. The different clinical outcomes could be explained by differences in the intake of niacin. The sufficient intake of niacin could prevent depletion in some patients despite their impaired niacin synthesis.",,"KYNU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8942"">8942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01556"">K01556</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01582"">H01582</a> Pellagra.","ICD-11: 5C50.3
 ICD-10: E70.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536081"">C536081</a>
 OMIM: <a href=""https://www.omim.org/entry/236800"">236800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17334708"">17334708</a>
 著者        Christensen M, Duno M, Lund AM, Skovby F, Christensen E
 タイトル      Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
 雑誌        J Inherit Metab Dis 30:248-55 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10545-007-0396-2"">10.1007/s10545-007-0396-2</a>"
H01584,"IgA 血管炎;
 ヘノッホ・シェーンライン紫斑病",,,"IgA vasculitis (IgAV), also known as Henoch-Schonlein purpura (HSP), is the most common systemic small vessel vasculitis in childhood with clinical characteristics of non-thrombocytopenic palpable purpura, arthritis, and involvement of internal organs such as gastrointestine (GI) and kidney. IgAV has been associated with a history of preceding infections, especially upper respiratory tract infection. In addition, other characteristics of IgAV include the deposition of IgA and C3 in small vessel walls, polymorphonuclear neutrophil infiltration around the vessel and in vessel walls, and increased serum levels of IgA and proinflammatory cytokines at the acute stage. Combined, IgAV is regarded as a specific immune-mediated entity induced by environmental factors, particularly infections. Clinically, since there are no disease-specific laboratory abnormalities, IgAV is currently diagnosed based on symptoms and signs and histopathological findings. Treatment is supportive because IgAV is usually self-limiting except for serious GI or renal involvement.",循環器疾患,,,,,,"デキサメタゾン [DR:D00292]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 乾燥濃縮人血液凝固第XIII因子 [DR:D08802]",,"ICD-11: 4A44.92
 ICD-10: D69.0
 MeSH: D011695","PMID:24424188
 著者        Yang YH, Yu HH, Chiang BL
 タイトル      The diagnosis and classification of Henoch-Schonlein purpura: an updated review.
 雑誌        Autoimmun Rev 13:355-8 (2014)
 DOI:10.1016/j.autrev.2014.01.031
 PMID:23325094
 著者        He X, Yu C, Zhao P, Ding Y, Liang X, Zhao Y, Yue X, Wu Y, Yin W
 タイトル      The genetics of Henoch-Schonlein purpura: a systematic review and meta-analysis.
 雑誌        Rheumatol Int 33:1387-95 (2013)
 DOI:10.1007/s00296-012-2661-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01584"">H01584</a>","IgA 血管炎;
 ヘノッホ・シェーンライン紫斑病","IgA vasculitis (IgAV), also known as Henoch-Schonlein purpura (HSP), is the most common systemic small vessel vasculitis in childhood with clinical characteristics of non-thrombocytopenic palpable purpura, arthritis, and involvement of internal organs such as gastrointestine (GI) and kidney. IgAV has been associated with a history of preceding infections, especially upper respiratory tract infection. In addition, other characteristics of IgAV include the deposition of IgA and C3 in small vessel walls, polymorphonuclear neutrophil infiltration around the vessel and in vessel walls, and increased serum levels of IgA and proinflammatory cytokines at the acute stage. Combined, IgAV is regarded as a specific immune-mediated entity induced by environmental factors, particularly infections. Clinically, since there are no disease-specific laboratory abnormalities, IgAV is currently diagnosed based on symptoms and signs and histopathological findings. Treatment is supportive because IgAV is usually self-limiting except for serious GI or renal involvement.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 乾燥濃縮人血液凝固第XIII因子 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08802"">D08802</a>]",,"ICD-11: 4A44.92
 ICD-10: D69.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011695"">D011695</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24424188"">24424188</a>
 著者        Yang YH, Yu HH, Chiang BL
 タイトル      The diagnosis and classification of Henoch-Schonlein purpura: an updated review.
 雑誌        Autoimmun Rev 13:355-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.01.031"">10.1016/j.autrev.2014.01.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23325094"">23325094</a>
 著者        He X, Yu C, Zhao P, Ding Y, Liang X, Zhao Y, Yue X, Wu Y, Yin W
 タイトル      The genetics of Henoch-Schonlein purpura: a systematic review and meta-analysis.
 雑誌        Rheumatol Int 33:1387-95 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00296-012-2661-4"">10.1007/s00296-012-2661-4</a>"
H01585,自己免疫性溶血性貧血,,,"Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. AIHAs can be distinguished on the basis of the autoantibody Ig class and thermal characteristics, i.e. the optimal temperature of reaction with autologous erythrocytes, in warm (wAIHA), cold (cold agglutinin disease; CAD), and mixed forms, although atypical cases of difficult diagnostic classification are reported with increasing frequency. Moreover, AIHAs are classified in primary (idiopathic), in which hemolysis dominates the clinical picture in the absence of any other coexisting disorder, and in secondary forms, accompanying and complicating an underlying disease. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia. The diagnosis is usually simple, based on the presence of hemolytic anemia and serological evidence of anti-erythrocyte antibodies, detectable by the direct antiglobulin test (DAT).",循環器疾患; 血液疾患; 免疫系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 スチムリマブ [DR:D11530]",,"ICD-11: 3A20
 ICD-10: D59.0 D59.1
 MeSH: D000744","PMID:26696796
 著者        Barcellini W
 タイトル      New Insights in the Pathogenesis of Autoimmune Hemolytic Anemia.
 雑誌        Transfus Med Hemother 42:287-93 (2015)
 DOI:10.1159/000439002
 PMID:25271314
 著者        Zanella A, Barcellini W
 タイトル      Treatment of autoimmune hemolytic anemias.
 雑誌        Haematologica 99:1547-54 (2014)
 DOI:10.3324/haematol.2014.114561","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01585"">H01585</a>",自己免疫性溶血性貧血,"Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. AIHAs can be distinguished on the basis of the autoantibody Ig class and thermal characteristics, i.e. the optimal temperature of reaction with autologous erythrocytes, in warm (wAIHA), cold (cold agglutinin disease; CAD), and mixed forms, although atypical cases of difficult diagnostic classification are reported with increasing frequency. Moreover, AIHAs are classified in primary (idiopathic), in which hemolysis dominates the clinical picture in the absence of any other coexisting disorder, and in secondary forms, accompanying and complicating an underlying disease. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia. The diagnosis is usually simple, based on the presence of hemolytic anemia and serological evidence of anti-erythrocyte antibodies, detectable by the direct antiglobulin test (DAT).",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 スチムリマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11530"">D11530</a>]",,"ICD-11: 3A20
 ICD-10: D59.0 D59.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000744"">D000744</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26696796"">26696796</a>
 著者        Barcellini W
 タイトル      New Insights in the Pathogenesis of Autoimmune Hemolytic Anemia.
 雑誌        Transfus Med Hemother 42:287-93 (2015)
 DOI:<a href=""https://doi.org/10.1159/000439002"">10.1159/000439002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25271314"">25271314</a>
 著者        Zanella A, Barcellini W
 タイトル      Treatment of autoimmune hemolytic anemias.
 雑誌        Haematologica 99:1547-54 (2014)
 DOI:<a href=""https://doi.org/10.3324/haematol.2014.114561"">10.3324/haematol.2014.114561</a>"
H01586,後天性赤芽球癆,,,"Pure red cell aplasia (PRCA) is a rare condition characterised by selective inhibition and the absence of red cell precursors in the bone marrow with consequent anaemia and reticulocytopenia in the presence of normal granulocytic and megakaryocytic lineages. RPCA can be classified into congenital and acquired. Congenital PRCA is also known as Diamond-Blackfan anemia [DS:H00237] and is a disease of infancy and early childhood. The aetiology of acquired PRCA can be subclassified into primary and secondary. Primary PRCA is defined when no aetiology can be identified using available investigations. The causes of secondary PRCA are again diverse and can be due to infections (viral, bacterial, etc.), drugs (erythropoietin, carbamazepine, etc.), collagen vascular disorders (rheumatoid arthritis, systemic lupus erythematosus, etc.), malignancies (e.g. thymoma), ABO-incompatible haematopoietic stem cell transplantation, and pregnancy. Depending on the cause, the course can be acute and self-limiting or chronic with rare spontaneous remissions. PRCA can be easily diagnosed when isolated anaemia, in the presence of normal white cell and platelet counts, is associated with a marrow of normal cellularity in which there is an almost complete absence of erythroblasts but normal myeloid cells and megakaryocytes. Primary, or secondary PRCA not responding to treatment of the underlying diseases, is treated as an immunologically-mediated disease. The therapeutic plan usually focuses on the sequential use of various immunosuppressive therapies until a remission is obtained.",血液疾患; 免疫系疾患,,,,,,シクロスポリン [DR:D00184],See also H00237.,"ICD-11: 3A61
 ICD-10: D60
 MeSH: D012010","PMID:18616874
 著者        Malhotra P, Muralikrishna GK, Varma N, Kumari S, Das R, Ahluwalia J, Jain S, Varma S
 タイトル      Spectrum of pure red cell aplasia in adult population of north-west India.
 雑誌        Hematology 13:88-91 (2008)
 DOI:10.1179/102453308X315979
 PMID:18510682
 著者        Sawada K, Fujishima N, Hirokawa M
 タイトル      Acquired pure red cell aplasia: updated review of treatment.
 雑誌        Br J Haematol 142:505-14 (2008)
 DOI:10.1111/j.1365-2141.2008.07216.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01586"">H01586</a>",後天性赤芽球癆,"Pure red cell aplasia (PRCA) is a rare condition characterised by selective inhibition and the absence of red cell precursors in the bone marrow with consequent anaemia and reticulocytopenia in the presence of normal granulocytic and megakaryocytic lineages. RPCA can be classified into congenital and acquired. Congenital PRCA is also known as Diamond-Blackfan anemia [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00237"">H00237</a>] and is a disease of infancy and early childhood. The aetiology of acquired PRCA can be subclassified into primary and secondary. Primary PRCA is defined when no aetiology can be identified using available investigations. The causes of secondary PRCA are again diverse and can be due to infections (viral, bacterial, etc.), drugs (erythropoietin, carbamazepine, etc.), collagen vascular disorders (rheumatoid arthritis, systemic lupus erythematosus, etc.), malignancies (e.g. thymoma), ABO-incompatible haematopoietic stem cell transplantation, and pregnancy. Depending on the cause, the course can be acute and self-limiting or chronic with rare spontaneous remissions. PRCA can be easily diagnosed when isolated anaemia, in the presence of normal white cell and platelet counts, is associated with a marrow of normal cellularity in which there is an almost complete absence of erythroblasts but normal myeloid cells and megakaryocytes. Primary, or secondary PRCA not responding to treatment of the underlying diseases, is treated as an immunologically-mediated disease. The therapeutic plan usually focuses on the sequential use of various immunosuppressive therapies until a remission is obtained.",,,,,,"シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00237."">H00237.</a>","ICD-11: 3A61
 ICD-10: D60
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012010"">D012010</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18616874"">18616874</a>
 著者        Malhotra P, Muralikrishna GK, Varma N, Kumari S, Das R, Ahluwalia J, Jain S, Varma S
 タイトル      Spectrum of pure red cell aplasia in adult population of north-west India.
 雑誌        Hematology 13:88-91 (2008)
 DOI:<a href=""https://doi.org/10.1179/102453308X315979"">10.1179/102453308X315979</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18510682"">18510682</a>
 著者        Sawada K, Fujishima N, Hirokawa M
 タイトル      Acquired pure red cell aplasia: updated review of treatment.
 雑誌        Br J Haematol 142:505-14 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2008.07216.x"">10.1111/j.1365-2141.2008.07216.x</a>"
H01587,"播種性血管内凝固症候群;
 汎発性血管内凝固症候群",,,"Disseminated intravascular coagulation (DIC) is an acquired syndrome characterised by the intravascular activation of coagulation with loss of localisation arising from different causes. It can originate from and cause damage to the microvasculature, which if sufficiently severe, can produce organ dysfunction. DIC is not a disease entity on itself but is always associated to an underlying disease. The clinical conditions that may be associated with DIC include sepsis, trauma, malignancy, liver disease, obstetric disorders, envenomation, vascular anomalies, and major transfusion reactions. A diagnosis of DIC should be made only in the presence of a clinical condition (causative factor) supported by repeated laboratory tests for coagulation profile and clotting factors. Treatment of DIC is aimed at combating the underlying disorder followed by supportive management.",血液疾患,,,,,,"ヘパリンナトリウム [DR:D02112]
 ダルテパリンナトリウム [DR:D03353]
 ダナパロイドナトリウム [DR:D03644]
 トロンボモデュリン アルファ [DR:D06410]
 ナファモスタットメシル酸塩 [DR:D01670]
 ガベキサートメシル酸塩 [DR:D01672]
 乾燥濃縮人アンチトロンビンIII [DR:D08795]
 アンチトロンビンガンマ [DR:D10684]",,"ICD-11: 3B20
 ICD-10: D65
 MeSH: D004211","PMID:12350365
 著者        Levi M, de Jonge E, Meijers J
 タイトル      The diagnosis of disseminated intravascular coagulation.
 雑誌        Blood Rev 16:217-23 (2002)
 DOI:10.1016/S0268-960X(02)00032-2
 PMID:23015284
 著者        Levi M, van der Poll T
 タイトル      Disseminated intravascular coagulation: a review for the internist.
 雑誌        Intern Emerg Med 8:23-32 (2013)
 DOI:10.1007/s11739-012-0859-9
 PMID:25535423
 著者        Venugopal A
 タイトル      Disseminated intravascular coagulation.
 雑誌        Indian J Anaesth 58:603-8 (2014)
 DOI:10.4103/0019-5049.144666","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01587"">H01587</a>","播種性血管内凝固症候群;
 汎発性血管内凝固症候群","Disseminated intravascular coagulation (DIC) is an acquired syndrome characterised by the intravascular activation of coagulation with loss of localisation arising from different causes. It can originate from and cause damage to the microvasculature, which if sufficiently severe, can produce organ dysfunction. DIC is not a disease entity on itself but is always associated to an underlying disease. The clinical conditions that may be associated with DIC include sepsis, trauma, malignancy, liver disease, obstetric disorders, envenomation, vascular anomalies, and major transfusion reactions. A diagnosis of DIC should be made only in the presence of a clinical condition (causative factor) supported by repeated laboratory tests for coagulation profile and clotting factors. Treatment of DIC is aimed at combating the underlying disorder followed by supportive management.",,,,,,"ヘパリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02112"">D02112</a>]
 ダルテパリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03353"">D03353</a>]
 ダナパロイドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03644"">D03644</a>]
 トロンボモデュリン アルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06410"">D06410</a>]
 ナファモスタットメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01670"">D01670</a>]
 ガベキサートメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01672"">D01672</a>]
 乾燥濃縮人アンチトロンビンIII [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08795"">D08795</a>]
 アンチトロンビンガンマ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10684"">D10684</a>]",,"ICD-11: 3B20
 ICD-10: D65
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004211"">D004211</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12350365"">12350365</a>
 著者        Levi M, de Jonge E, Meijers J
 タイトル      The diagnosis of disseminated intravascular coagulation.
 雑誌        Blood Rev 16:217-23 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0268-960X(02)00032-2"">10.1016/S0268-960X(02)00032-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23015284"">23015284</a>
 著者        Levi M, van der Poll T
 タイトル      Disseminated intravascular coagulation: a review for the internist.
 雑誌        Intern Emerg Med 8:23-32 (2013)
 DOI:<a href=""https://doi.org/10.1007/s11739-012-0859-9"">10.1007/s11739-012-0859-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25535423"">25535423</a>
 著者        Venugopal A
 タイトル      Disseminated intravascular coagulation.
 雑誌        Indian J Anaesth 58:603-8 (2014)
 DOI:<a href=""https://doi.org/10.4103/0019-5049.144666"">10.4103/0019-5049.144666</a>"
H01588,群発頭痛,,,"Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination of these sites, with duration of pain attacks of 15 to 180 min. The pain of CH is associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis and/or eyelid edema, and/or restlessness or agitation. Headaches often recur at the same time each day during the cluster period, which can last for weeks to months. CH occurs more commonly in male patients (2.5:1 to 4.3:1 male to female) with an average age of onset in the third or fourth decade. The pathophysiology of CH is not fully understood, but may include a genetic component. Treatment focuses on avoiding triggers and includes abortive therapies, prophylaxis during the cluster period, and long-term treatment in patients with chronic CH. Evidence supports the use of supplemental oxygen, sumatriptan, and zolmitriptan for acute treatment of episodic CH. Verapamil is used to treat chronic CH. More invasive treatments, including nerve stimulation and surgery, may be helpful in refractory cases.",神経系疾患,,,,,,スマトリプタンコハク酸塩 [DR:D00676],,"ICD-11: 8A82
 ICD-10: G44.0
 MeSH: D003027","PMID:26711274 (description, drug)
 著者        VanderPluym J
 タイトル      Cluster Headache: Special Considerations for Treatment of Female Patients of Reproductive Age and Pediatric Patients.
 雑誌        Curr Neurol Neurosci Rep 16:5 (2016)
 DOI:10.1007/s11910-015-0610-9
 PMID:26635477
 著者        Gooriah R, Buture A, Ahmed F
 タイトル      Evidence-based treatments for cluster headache.
 雑誌        Ther Clin Risk Manag 11:1687-96 (2015)
 DOI:10.2147/TCRM.S94193
 PMID:23939643
 著者        Weaver-Agostoni J
 タイトル      Cluster headache.
 雑誌        Am Fam Physician 88:122-8 (2013)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01588"">H01588</a>",群発頭痛,"Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination of these sites, with duration of pain attacks of 15 to 180 min. The pain of CH is associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis and/or eyelid edema, and/or restlessness or agitation. Headaches often recur at the same time each day during the cluster period, which can last for weeks to months. CH occurs more commonly in male patients (2.5:1 to 4.3:1 male to female) with an average age of onset in the third or fourth decade. The pathophysiology of CH is not fully understood, but may include a genetic component. Treatment focuses on avoiding triggers and includes abortive therapies, prophylaxis during the cluster period, and long-term treatment in patients with chronic CH. Evidence supports the use of supplemental oxygen, sumatriptan, and zolmitriptan for acute treatment of episodic CH. Verapamil is used to treat chronic CH. More invasive treatments, including nerve stimulation and surgery, may be helpful in refractory cases.",,,,,,"スマトリプタンコハク酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00676"">D00676</a>]",,"ICD-11: 8A82
 ICD-10: G44.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003027"">D003027</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26711274"">26711274</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        VanderPluym J
 タイトル      Cluster Headache: Special Considerations for Treatment of Female Patients of Reproductive Age and Pediatric Patients.
 雑誌        Curr Neurol Neurosci Rep 16:5 (2016)
 DOI:<a href=""https://doi.org/10.1007/s11910-015-0610-9"">10.1007/s11910-015-0610-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26635477"">26635477</a>
 著者        Gooriah R, Buture A, Ahmed F
 タイトル      Evidence-based treatments for cluster headache.
 雑誌        Ther Clin Risk Manag 11:1687-96 (2015)
 DOI:<a href=""https://doi.org/10.2147/TCRM.S94193"">10.2147/TCRM.S94193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23939643"">23939643</a>
 著者        Weaver-Agostoni J
 タイトル      Cluster headache.
 雑誌        Am Fam Physician 88:122-8 (2013)"
H01589,"全身性カルニチン欠乏症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential roles in the transportation of long-chain fatty acids into the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter 2 (OCTN2). The hallmark of systemic primary carnitine deficiency is low concentrations of carnitine in plasma, with accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated into a crisis with cardiac arrest or Reye-like syndrome that includes acute encephalopathy and fatty degenerative liver failure.",先天性代謝異常症,nt06020  beta-Oxidation in mitochondria,SLC22A5 [HSA:6584] [KO:K08202],,,,"レボカルニチン塩化物 [DR:D02030]
 レボカルニチン [DR:D02176]",See also H00525 Disorders of fatty-acid oxidation.,"ICD-11: 5C52.00
 ICD-10: E71.3
 MeSH: C536778
 OMIM: 212140","PMID:23379544 (gene, drug)
 著者        Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M
 タイトル      Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
 雑誌        Clin Genet 85:127-37 (2014)
 DOI:10.1111/cge.12112
 PMID:9634512 (gene, marker)
 著者        Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G
 タイトル      Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.
 雑誌        Am J Hum Genet 63:101-8 (1998)
 DOI:10.1086/301911
 PMID:16865412 (marker)
 著者        Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH
 タイトル      Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
 雑誌        J Inherit Metab Dis 29:627-30 (2006)
 DOI:10.1007/s10545-006-0376-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01589"">H01589</a>","全身性カルニチン欠乏症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential roles in the transportation of long-chain fatty acids into the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter 2 (OCTN2). The hallmark of systemic primary carnitine deficiency is low concentrations of carnitine in plasma, with accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated into a crisis with cardiac arrest or Reye-like syndrome that includes acute encephalopathy and fatty degenerative liver failure.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","SLC22A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6584"">6584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08202"">K08202</a>]",,,,"レボカルニチン塩化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02030"">D02030</a>]
 レボカルニチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02176"">D02176</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a> Disorders of fatty-acid oxidation.","ICD-11: 5C52.00
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536778"">C536778</a>
 OMIM: <a href=""https://www.omim.org/entry/212140"">212140</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23379544"">23379544</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M
 タイトル      Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
 雑誌        Clin Genet 85:127-37 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12112"">10.1111/cge.12112</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9634512"">9634512</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G
 タイトル      Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.
 雑誌        Am J Hum Genet 63:101-8 (1998)
 DOI:<a href=""https://doi.org/10.1086/301911"">10.1086/301911</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16865412"">16865412</a> (marker)
 著者        Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH
 タイトル      Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
 雑誌        J Inherit Metab Dis 29:627-30 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10545-006-0376-y"">10.1007/s10545-006-0376-y</a>"
H01590,慢性好酸球性白血病,,,"Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils in blood, bone marrow or peripheral tissues. In most patients with CEL (about 60%), eosinophils display PDGFRA-fusion genes and related cytogenetic defects. The most commonly detected oncoprotein is FIP1L1/PDGFRA. FIP1L1-PDGFRA is a constitutively activated tyrosine kinase, which is suggested to induce the proliferation of EoL-1 (The eosinophilic leukemia cell line) cells by inducing c-Myc expression at the mRNA level via ERK and JNK signaling pathways.",がん,,"FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363]
 BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363]",,,,イマチニブメシル酸塩 [DR:D01441] (FIP1L1-PDGFRα陽性),,"ICD-11: 2A20.3
 ICD-10: D47.5
 MeSH: C580364","PMID:15070659
 著者        Gotlib J, Cools J, Malone JM 3rd, Schrier SL, Gilliland DG, Coutre SE
 タイトル      The FIP1L1-PDGFRalpha fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management.
 雑誌        Blood 103:2879-91 (2004)
 DOI:10.1182/blood-2003-06-1824
 PMID:23100928
 著者        Kumar A, Sinha S, Tripathi AK
 タイトル      Chronic eosinophilic leukemia: a case report and review of literature.
 雑誌        Indian J Hematol Blood Transfus 23:112-5 (2007)
 DOI:10.1007/s12288-008-0010-2
 PMID:23662039
 著者        Yamada Y, Rothenberg ME, Cancelas JA
 タイトル      Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia.
 雑誌        Transl Oncogenomics 1:53-63 (2006)
 PMID:16781488 (gene, drug)
 著者        Gotlib J, Cross NC, Gilliland DG
 タイトル      Eosinophilic disorders: molecular pathogenesis, new classification, and modern therapy.
 雑誌        Best Pract Res Clin Haematol 19:535-69 (2006)
 DOI:10.1016/j.beha.2005.07.013
 PMID:19246139 (description, marker)
 著者        Valent P
 タイトル      Pathogenesis, classification, and therapy of eosinophilia and eosinophil disorders.
 雑誌        Blood Rev 23:157-65 (2009)
 DOI:10.1016/j.blre.2009.01.001
 PMID:18086564
 著者        Ishihara K, Kitamura H, Hiraizumi K, Kaneko M, Takahashi A, Zee O, Seyama T, Hong J, Ohuchi K, Hirasawa N
 タイトル      Mechanisms for the proliferation of eosinophilic leukemia cells by FIP1L1-PDGFRalpha.
 雑誌        Biochem Biophys Res Commun 366:1007-11 (2008)
 DOI:10.1016/j.bbrc.2007.12.063
 PMID:16341034
 著者        De Keersmaecker K, Cools J
 タイトル      Chronic myeloproliferative disorders: a tyrosine kinase tale.
 雑誌        Leukemia 20:200-5 (2006)
 DOI:10.1038/sj.leu.2404064","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01590"">H01590</a>",慢性好酸球性白血病,"Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils in blood, bone marrow or peripheral tissues. In most patients with CEL (about 60%), eosinophils display PDGFRA-fusion genes and related cytogenetic defects. The most commonly detected oncoprotein is FIP1L1/PDGFRA. FIP1L1-PDGFRA is a constitutively activated tyrosine kinase, which is suggested to induce the proliferation of EoL-1 (The eosinophilic leukemia cell line) cells by inducing c-Myc expression at the mRNA level via ERK and JNK signaling pathways.",,"FIP1L1-PDGFRA (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5156"">5156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04363"">K04363</a>]
 BCR-PDGFRA (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5156"">5156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04363"">K04363</a>]",,,,"イマチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01441"">D01441</a>] (FIP1L1-PDGFRα陽性)",,"ICD-11: 2A20.3
 ICD-10: D47.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580364"">C580364</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15070659"">15070659</a>
 著者        Gotlib J, Cools J, Malone JM 3rd, Schrier SL, Gilliland DG, Coutre SE
 タイトル      The FIP1L1-PDGFRalpha fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management.
 雑誌        Blood 103:2879-91 (2004)
 DOI:<a href=""https://doi.org/10.1182/blood-2003-06-1824"">10.1182/blood-2003-06-1824</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23100928"">23100928</a>
 著者        Kumar A, Sinha S, Tripathi AK
 タイトル      Chronic eosinophilic leukemia: a case report and review of literature.
 雑誌        Indian J Hematol Blood Transfus 23:112-5 (2007)
 DOI:<a href=""https://doi.org/10.1007/s12288-008-0010-2"">10.1007/s12288-008-0010-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23662039"">23662039</a>
 著者        Yamada Y, Rothenberg ME, Cancelas JA
 タイトル      Current concepts on the pathogenesis of the hypereosinophilic syndrome/chronic eosinophilic leukemia.
 雑誌        Transl Oncogenomics 1:53-63 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16781488"">16781488</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Gotlib J, Cross NC, Gilliland DG
 タイトル      Eosinophilic disorders: molecular pathogenesis, new classification, and modern therapy.
 雑誌        Best Pract Res Clin Haematol 19:535-69 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.beha.2005.07.013"">10.1016/j.beha.2005.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246139"">19246139</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Valent P
 タイトル      Pathogenesis, classification, and therapy of eosinophilia and eosinophil disorders.
 雑誌        Blood Rev 23:157-65 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2009.01.001"">10.1016/j.blre.2009.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18086564"">18086564</a>
 著者        Ishihara K, Kitamura H, Hiraizumi K, Kaneko M, Takahashi A, Zee O, Seyama T, Hong J, Ohuchi K, Hirasawa N
 タイトル      Mechanisms for the proliferation of eosinophilic leukemia cells by FIP1L1-PDGFRalpha.
 雑誌        Biochem Biophys Res Commun 366:1007-11 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.bbrc.2007.12.063"">10.1016/j.bbrc.2007.12.063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16341034"">16341034</a>
 著者        De Keersmaecker K, Cools J
 タイトル      Chronic myeloproliferative disorders: a tyrosine kinase tale.
 雑誌        Leukemia 20:200-5 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.leu.2404064"">10.1038/sj.leu.2404064</a>"
H01591,"消化管間質腫瘍
 下位グループ    GIST-plus 症候群 (GISTPS)
 上位グループ    固形腫瘍 [DS:H02421]",,,"Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% of gastrointestinal sarcomas, with a mean annual incidence of 10-15 per million. Nearly 50-70% of the clinically apparent tumors arise in the stomach, 20-30% arise in the small intestine, 5-15% in the large intestine, and less than 5% in other locations. The genetic basis of GIST growth is a mutation of the KIT or PDGFRA gene leading to constitutional activation of receptor tyrosine kinases, which is the driving force behind tumor development.",がん,,"(GIST) KIT [HSA:3815] [KO:K05091]
 (GIST) SDHB [HSA:6390] [KO:K00235]
 (GIST) SDHC [HSA:6391] [KO:K00236]
 (GISTPS) PDGFRA [HSA:5156] [KO:K04363]",,,,"イマチニブメシル酸塩 [DR:D01441] (KIT陽性)
 スニチニブリンゴ酸塩 [DR:D06402]
 レゴラフェニブ水和物 [DR:D10137]
 ピミテスピブ [DR:D11920]",,"ICD-11: 2B5B
 ICD-10: C26
 MeSH: D046152
 OMIM: 606764 175510","PMID:25414046 (gene, drug)
 著者        Yamamoto H, Oda Y
 タイトル      Gastrointestinal stromal tumor: recent advances in pathology and genetics.
 雑誌        Pathol Int 65:9-18 (2015)
 DOI:10.1111/pin.12230
 PMID:26098203 (description, gene, drug)
 著者        Alturkmani HJ, Pessetto ZY, Godwin AK
 タイトル      Beyond standard therapy: drugs under investigation for the treatment of gastrointestinal stromal tumor.
 雑誌        Expert Opin Investig Drugs 24:1045-58 (2015)
 DOI:10.1517/13543784.2015.1046594
 PMID:26276366 (gene, drug)
 著者        Nishida T, Blay JY, Hirota S, Kitagawa Y, Kang YK
 タイトル      The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.
 雑誌        Gastric Cancer 19:3-14 (2016)
 DOI:10.1007/s10120-015-0526-8
 PMID:24384849 (description, gene, drug)
 著者        Corless CL
 タイトル      Gastrointestinal stromal tumors: what do we know now?
 雑誌        Mod Pathol 27 Suppl 1:S1-16 (2014)
 DOI:10.1038/modpathol.2013.173
 PMID:22124674 (description, gene, drug)
 著者        Beham AW, Schaefer IM, Schuler P, Cameron S, Ghadimi BM
 タイトル      Gastrointestinal stromal tumors.
 雑誌        Int J Colorectal Dis 27:689-700 (2012)
 DOI:10.1007/s00384-011-1353-y
 PMID:21173220
 著者        Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA
 タイトル      Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
 雑誌        Proc Natl Acad Sci U S A 108:314-8 (2011)
 DOI:10.1073/pnas.1009199108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01591"">H01591</a>","消化管間質腫瘍
 下位グループ    GIST-plus 症候群 (GISTPS)
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% of gastrointestinal sarcomas, with a mean annual incidence of 10-15 per million. Nearly 50-70% of the clinically apparent tumors arise in the stomach, 20-30% arise in the small intestine, 5-15% in the large intestine, and less than 5% in other locations. The genetic basis of GIST growth is a mutation of the KIT or PDGFRA gene leading to constitutional activation of receptor tyrosine kinases, which is the driving force behind tumor development.",,"(GIST) KIT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3815"">3815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05091"">K05091</a>]
 (GIST) SDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6390"">6390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00235"">K00235</a>]
 (GIST) SDHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6391"">6391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00236"">K00236</a>]
 (GISTPS) PDGFRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5156"">5156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04363"">K04363</a>]",,,,"イマチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01441"">D01441</a>] (KIT陽性)
 スニチニブリンゴ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06402"">D06402</a>]
 レゴラフェニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10137"">D10137</a>]
 ピミテスピブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11920"">D11920</a>]",,"ICD-11: 2B5B
 ICD-10: C26
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D046152"">D046152</a>
 OMIM: <a href=""https://www.omim.org/entry/606764"">606764</a> <a href=""https://www.omim.org/entry/175510"">175510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25414046"">25414046</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Yamamoto H, Oda Y
 タイトル      Gastrointestinal stromal tumor: recent advances in pathology and genetics.
 雑誌        Pathol Int 65:9-18 (2015)
 DOI:<a href=""https://doi.org/10.1111/pin.12230"">10.1111/pin.12230</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26098203"">26098203</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Alturkmani HJ, Pessetto ZY, Godwin AK
 タイトル      Beyond standard therapy: drugs under investigation for the treatment of gastrointestinal stromal tumor.
 雑誌        Expert Opin Investig Drugs 24:1045-58 (2015)
 DOI:<a href=""https://doi.org/10.1517/13543784.2015.1046594"">10.1517/13543784.2015.1046594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26276366"">26276366</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Nishida T, Blay JY, Hirota S, Kitagawa Y, Kang YK
 タイトル      The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.
 雑誌        Gastric Cancer 19:3-14 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10120-015-0526-8"">10.1007/s10120-015-0526-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24384849"">24384849</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Corless CL
 タイトル      Gastrointestinal stromal tumors: what do we know now?
 雑誌        Mod Pathol 27 Suppl 1:S1-16 (2014)
 DOI:<a href=""https://doi.org/10.1038/modpathol.2013.173"">10.1038/modpathol.2013.173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22124674"">22124674</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Beham AW, Schaefer IM, Schuler P, Cameron S, Ghadimi BM
 タイトル      Gastrointestinal stromal tumors.
 雑誌        Int J Colorectal Dis 27:689-700 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00384-011-1353-y"">10.1007/s00384-011-1353-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21173220"">21173220</a>
 著者        Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA
 タイトル      Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
 雑誌        Proc Natl Acad Sci U S A 108:314-8 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1009199108"">10.1073/pnas.1009199108</a>"
H01592,甲状腺髄様癌,,,"Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead to substrate-independent dimerization of the receptor causing constitutive activation, unrestricted signaling, and ultimately, cancer.",がん,,"RET [HSA:5979] [KO:K05126]
 HRAS [HSA:3265] [KO:K02833]
 KRAS [HSA:3845] [KO:K07827]",,,,"バンデタニブ [DR:D06407]
 セルペルカチニブ [DR:D11713] (RET融合遺伝子陽性)",,"ICD-11: 2D10.4
 ICD-10: C73
 MeSH: C536914","PMID:25972318 (gene, drug)
 著者        Chernock RD, Hagemann IS
 タイトル      Molecular pathology of hereditary and sporadic medullary thyroid carcinomas.
 雑誌        Am J Clin Pathol 143:768-77 (2015)
 DOI:10.1309/AJCPHWACTTUYJ7DD
 PMID:24316908
 著者        Pusztaszeri MP, Bongiovanni M, Faquin WC
 タイトル      Update on the cytologic and molecular features of medullary thyroid carcinoma.
 雑誌        Adv Anat Pathol 21:26-35 (2014)
 DOI:10.1097/PAP.0000000000000004
 PMID:23955938
 著者        Trimboli P, Giovanella L, Crescenzi A, Romanelli F, Valabrega S, Spriano G, Cremonini N, Guglielmi R, Papini E
 タイトル      Medullary thyroid cancer diagnosis: an appraisal.
 雑誌        Head Neck 36:1216-23 (2014)
 DOI:10.1002/hed.23449
 PMID:26494384
 著者        Raue F, Frank-Raue K
 タイトル      Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.
 雑誌        Recent Results Cancer Res 204:61-90 (2015)
 DOI:10.1007/978-3-319-22542-5_3
 PMID:24942936 (gene, drug)
 著者        Maxwell JE, Sherman SK, O'Dorisio TM, Howe JR
 タイトル      Medical management of metastatic medullary thyroid cancer.
 雑誌        Cancer 120:3287-301 (2014)
 DOI:10.1002/cncr.28858","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01592"">H01592</a>",甲状腺髄様癌,"Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead to substrate-independent dimerization of the receptor causing constitutive activation, unrestricted signaling, and ultimately, cancer.",,"RET [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5979"">5979</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05126"">K05126</a>]
 HRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]",,,,"バンデタニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06407"">D06407</a>]
 セルペルカチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11713"">D11713</a>] (RET融合遺伝子陽性)",,"ICD-11: 2D10.4
 ICD-10: C73
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536914"">C536914</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25972318"">25972318</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Chernock RD, Hagemann IS
 タイトル      Molecular pathology of hereditary and sporadic medullary thyroid carcinomas.
 雑誌        Am J Clin Pathol 143:768-77 (2015)
 DOI:<a href=""https://doi.org/10.1309/AJCPHWACTTUYJ7DD"">10.1309/AJCPHWACTTUYJ7DD</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24316908"">24316908</a>
 著者        Pusztaszeri MP, Bongiovanni M, Faquin WC
 タイトル      Update on the cytologic and molecular features of medullary thyroid carcinoma.
 雑誌        Adv Anat Pathol 21:26-35 (2014)
 DOI:<a href=""https://doi.org/10.1097/PAP.0000000000000004"">10.1097/PAP.0000000000000004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23955938"">23955938</a>
 著者        Trimboli P, Giovanella L, Crescenzi A, Romanelli F, Valabrega S, Spriano G, Cremonini N, Guglielmi R, Papini E
 タイトル      Medullary thyroid cancer diagnosis: an appraisal.
 雑誌        Head Neck 36:1216-23 (2014)
 DOI:<a href=""https://doi.org/10.1002/hed.23449"">10.1002/hed.23449</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26494384"">26494384</a>
 著者        Raue F, Frank-Raue K
 タイトル      Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.
 雑誌        Recent Results Cancer Res 204:61-90 (2015)
 DOI:<a href=""https://doi.org/10.1007/978-3-319-22542-5_3"">10.1007/978-3-319-22542-5_3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24942936"">24942936</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Maxwell JE, Sherman SK, O'Dorisio TM, Howe JR
 タイトル      Medical management of metastatic medullary thyroid cancer.
 雑誌        Cancer 120:3287-301 (2014)
 DOI:<a href=""https://doi.org/10.1002/cncr.28858"">10.1002/cncr.28858</a>"
H01593,骨粗鬆症,,,"Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins and families indicate that genetic factors play an important role in the regulation of BMD and other determinants of osteoporotic fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor, oestrogen receptor and collagen gene. Bisphosphonates, and in some patients denosumab, are first-line drugs for osteoporosis.",筋骨格疾患,,"PDLIM4 [HSA:8572] [KO:K23353]
 CALCR [HSA:799] [KO:K04576]
 COL1A1 [HSA:1277] [KO:K06236]
 COL1A2 [HSA:1278] [KO:K06236]
 (BMND1) LRP5 [HSA:4041] [KO:K03068]
 (BMND12) UGT2B17 [HSA:7367] [KO:K00699]
 (BMND15) MIR2861 [HSA:100422910]
 (BMND16) WNT1 [HSA:7471] [KO:K03209]
 (BMND17) LGR4 [HSA:55366] [KO:K04309]
 (BMND18) PLS3 [HSA:5358] [KO:K17336]",,,,"テリパラチド酢酸塩 [DR:D03358]
 テリパラチド [DR:D06078]
 メテノロン酢酸エステル [DR:D01375]
 エストラジオール [DR:D00105]
 エストリオール [DR:D00185]
 テストステロンエナント酸エステル・吉草酸エストラジオール [DR:D04454]
 エストラジオール･レボノルゲストレル [DR:D09187]
 アルファカルシドール [DR:D01518]
 カルシトリオール [DR:D00129]
 エルデカルシトール [DR:D07578]
 メナテトレノン [DR:D00100]
 L-アスパラギン酸カルシウム水和物 [DR:D01598]
 リン酸水素カルシウム水和物 [DR:D00937]
 ラロキシフェン塩酸塩 [DR:D02217]
 ラロキシフェン塩酸塩水和物 [DR:D10606]
 バゼドキシフェン酢酸塩 [DR:D03062]
 エルカトニン [DR:D03287]
 エチドロン酸二ナトリウム [DR:D00314]
 アレンドロン酸ナトリウム水和物 [DR:D00939]
 イバンドロン酸ナトリウム水和物 [DR:D04486]
 リセドロン酸ナトリウム水和物 [DR:D03234]
 ゾレドロン酸水和物 [DR:D01968]
 イプリフラボン [DR:D01338]
 デノスマブ [DR:D03684]
 ロモソズマブ [DR:D10156]
 ミノドロン酸水和物 [DR:D09198]",,"ICD-11: FB83.1
 ICD-10: M80 M81 M82
 MeSH: D010024
 OMIM: 166710 601884 612560 613418 615221 615311 300910","PMID:10927613
 著者        Stewart TL, Ralston SH
 タイトル      Role of genetic factors in the pathogenesis of osteoporosis.
 雑誌        J Endocrinol 166:235-45 (2000)
 DOI:10.1677/joe.0.1660235
 PMID:26194148
 著者        Noordin S, Glowacki J
 タイトル      Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing.
 雑誌        Rheumatol Int 36:1-6 (2016)
 DOI:10.1007/s00296-015-3319-9
 PMID:19760059
 著者        Saito M, Marumo K
 タイトル      Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus.
 雑誌        Osteoporos Int 21:195-214 (2010)
 DOI:10.1007/s00198-009-1066-z
 PMID:12908099 (PDLIM4)
 著者        Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M
 タイトル      Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women.
 雑誌        J Hum Genet 48:342-5 (2003)
 DOI:10.1007/s10038-003-0035-1
 PMID:9675109 (CALCR)
 著者        Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML
 タイトル      Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women.
 雑誌        Biochem Biophys Res Commun 248:190-5 (1998)
 DOI:10.1006/bbrc.1998.8880
 PMID:8841196 (COL1A1)
 著者        Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH
 タイトル      Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.
 雑誌        Nat Genet 14:203-5 (1996)
 DOI:10.1038/ng1096-203
 PMID:2052622 (COL1A2)
 著者        Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ
 タイトル      Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
 雑誌        Proc Natl Acad Sci U S A 88:5423-7 (1991)
 DOI:10.1073/pnas.88.12.5423
 PMID:14727154 (LRP5)
 著者        Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K
 タイトル      LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
 雑誌        J Hum Genet 49:80-6 (2004)
 DOI:10.1007/s10038-003-0111-6
 PMID:18992858 (UGT2B17)
 著者        Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, Zhou Q, Pan F, Chen Y, Zhang ZX, Dong SS, Xu XH, Yan H, Liu X, Qiu C, Zhu XZ, Chen T, Li M, Zhang H, Zhang L, Drees BM, Hamilton JJ, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW
 タイトル      Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.
 雑誌        Am J Hum Genet 83:663-74 (2008)
 DOI:10.1016/j.ajhg.2008.10.006
 PMID:19920351 (MIR2861)
 著者        Li H, Xie H, Liu W, Hu R, Huang B, Tan YF, Xu K, Sheng ZF, Zhou HD, Wu XP, Luo XH
 タイトル      A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans.
 雑誌        J Clin Invest 119:3666-77 (2009)
 DOI:10.1172/JCI39832
 PMID:23499310 (WNT1)
 著者        Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH
 タイトル      WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 92:590-7 (2013)
 DOI:10.1016/j.ajhg.2013.02.009
 PMID:23644456 (LGR4)
 著者        Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K
 タイトル      Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
 雑誌        Nature 497:517-20 (2013)
 DOI:10.1038/nature12124
 PMID:24088043 (PLS3)
 著者        van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G
 タイトル      PLS3 mutations in X-linked osteoporosis with fractures.
 雑誌        N Engl J Med 369:1529-36 (2013)
 DOI:10.1056/NEJMoa1308223","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01593"">H01593</a>",骨粗鬆症,"Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins and families indicate that genetic factors play an important role in the regulation of BMD and other determinants of osteoporotic fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor, oestrogen receptor and collagen gene. Bisphosphonates, and in some patients denosumab, are first-line drugs for osteoporosis.",,"PDLIM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8572"">8572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23353"">K23353</a>]
 CALCR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:799"">799</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04576"">K04576</a>]
 COL1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1277"">1277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]
 COL1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1278"">1278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]
 (BMND1) LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 (BMND12) UGT2B17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7367"">7367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00699"">K00699</a>]
 (BMND15) MIR2861 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100422910"">100422910</a>]
 (BMND16) WNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7471"">7471</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03209"">K03209</a>]
 (BMND17) LGR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55366"">55366</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04309"">K04309</a>]
 (BMND18) PLS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5358"">5358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17336"">K17336</a>]",,,,"テリパラチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03358"">D03358</a>]
 テリパラチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06078"">D06078</a>]
 メテノロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01375"">D01375</a>]
 エストラジオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00105"">D00105</a>]
 エストリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00185"">D00185</a>]
 テストステロンエナント酸エステル・吉草酸エストラジオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04454"">D04454</a>]
 エストラジオール･レボノルゲストレル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09187"">D09187</a>]
 アルファカルシドール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01518"">D01518</a>]
 カルシトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00129"">D00129</a>]
 エルデカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07578"">D07578</a>]
 メナテトレノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00100"">D00100</a>]
 L-アスパラギン酸カルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01598"">D01598</a>]
 リン酸水素カルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00937"">D00937</a>]
 ラロキシフェン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02217"">D02217</a>]
 ラロキシフェン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10606"">D10606</a>]
 バゼドキシフェン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03062"">D03062</a>]
 エルカトニン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03287"">D03287</a>]
 エチドロン酸二ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00314"">D00314</a>]
 アレンドロン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00939"">D00939</a>]
 イバンドロン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04486"">D04486</a>]
 リセドロン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03234"">D03234</a>]
 ゾレドロン酸水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01968"">D01968</a>]
 イプリフラボン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01338"">D01338</a>]
 デノスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03684"">D03684</a>]
 ロモソズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10156"">D10156</a>]
 ミノドロン酸水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09198"">D09198</a>]",,"ICD-11: FB83.1
 ICD-10: M80 M81 M82
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010024"">D010024</a>
 OMIM: <a href=""https://www.omim.org/entry/166710"">166710</a> <a href=""https://www.omim.org/entry/601884"">601884</a> <a href=""https://www.omim.org/entry/612560"">612560</a> <a href=""https://www.omim.org/entry/613418"">613418</a> <a href=""https://www.omim.org/entry/615221"">615221</a> <a href=""https://www.omim.org/entry/615311"">615311</a> <a href=""https://www.omim.org/entry/300910"">300910</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10927613"">10927613</a>
 著者        Stewart TL, Ralston SH
 タイトル      Role of genetic factors in the pathogenesis of osteoporosis.
 雑誌        J Endocrinol 166:235-45 (2000)
 DOI:<a href=""https://doi.org/10.1677/joe.0.1660235"">10.1677/joe.0.1660235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26194148"">26194148</a>
 著者        Noordin S, Glowacki J
 タイトル      Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing.
 雑誌        Rheumatol Int 36:1-6 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00296-015-3319-9"">10.1007/s00296-015-3319-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19760059"">19760059</a>
 著者        Saito M, Marumo K
 タイトル      Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus.
 雑誌        Osteoporos Int 21:195-214 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00198-009-1066-z"">10.1007/s00198-009-1066-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12908099"">12908099</a> (PDLIM4)
 著者        Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M
 タイトル      Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women.
 雑誌        J Hum Genet 48:342-5 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0035-1"">10.1007/s10038-003-0035-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9675109"">9675109</a> (CALCR)
 著者        Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML
 タイトル      Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women.
 雑誌        Biochem Biophys Res Commun 248:190-5 (1998)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1998.8880"">10.1006/bbrc.1998.8880</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8841196"">8841196</a> (COL1A1)
 著者        Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH
 タイトル      Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.
 雑誌        Nat Genet 14:203-5 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1096-203"">10.1038/ng1096-203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2052622"">2052622</a> (COL1A2)
 著者        Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ
 タイトル      Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
 雑誌        Proc Natl Acad Sci U S A 88:5423-7 (1991)
 DOI:<a href=""https://doi.org/10.1073/pnas.88.12.5423"">10.1073/pnas.88.12.5423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14727154"">14727154</a> (LRP5)
 著者        Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K
 タイトル      LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
 雑誌        J Hum Genet 49:80-6 (2004)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0111-6"">10.1007/s10038-003-0111-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18992858"">18992858</a> (UGT2B17)
 著者        Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, Zhou Q, Pan F, Chen Y, Zhang ZX, Dong SS, Xu XH, Yan H, Liu X, Qiu C, Zhu XZ, Chen T, Li M, Zhang H, Zhang L, Drees BM, Hamilton JJ, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW
 タイトル      Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.
 雑誌        Am J Hum Genet 83:663-74 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.006"">10.1016/j.ajhg.2008.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19920351"">19920351</a> (MIR2861)
 著者        Li H, Xie H, Liu W, Hu R, Huang B, Tan YF, Xu K, Sheng ZF, Zhou HD, Wu XP, Luo XH
 タイトル      A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans.
 雑誌        J Clin Invest 119:3666-77 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI39832"">10.1172/JCI39832</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23499310"">23499310</a> (WNT1)
 著者        Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH
 タイトル      WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
 雑誌        Am J Hum Genet 92:590-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.02.009"">10.1016/j.ajhg.2013.02.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23644456"">23644456</a> (LGR4)
 著者        Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K
 タイトル      Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
 雑誌        Nature 497:517-20 (2013)
 DOI:<a href=""https://doi.org/10.1038/nature12124"">10.1038/nature12124</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24088043"">24088043</a> (PLS3)
 著者        van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G
 タイトル      PLS3 mutations in X-linked osteoporosis with fractures.
 雑誌        N Engl J Med 369:1529-36 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1308223"">10.1056/NEJMoa1308223</a>"
H01594,重症筋無力症,,,"Myasthenia gravis (MG) is an autoimmune disorder characterized by a defective transmission of nerve impulses to muscles leading to muscle weakness and fatigability. Some, but not all, muscles are affected and not necessarily symmetrically. Increased weakness with continued muscle activity represents a diagnostic clue for MG, but these clinical features can vary. MG is B-cell mediated, and is associated with antibodies directed against the acetylcholine receptor (AChR), muscle-specific kinase (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients should be classified into subgroups to help with therapeutic decisions and prognosis. Subgroups based on serum antibodies and clinical features include early-onset, late-onset, thymoma, MUSK, LRP4, antibody-negative, and ocular forms of myasthenia gravis. Agrin-associated MG might emerge as a new entity. The prognosis is good with optimum symptomatic, immunosuppressive, and supportive treatment. The evolution of MG is unpredictable, but it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years.",免疫系疾患; 神経系疾患,,,,,,"ジスチグミン臭化物 [DR:D01228]
 アンベノニウム塩化物 [DR:D01001]
 ネオスチグミン臭化物 [DR:D00995]
 ネオスチグミンメチル硫酸塩 [DR:D00998]
 ピリドスチグミン臭化物 [DR:D00487]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 タクロリムス水和物 [DR:D00107]
 シクロスポリン [DR:D00184]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 エクリズマブ [DR:D03940]
 エフガルチギモドアルファ [DR:D11876]","Autoantigen:
 CHRNA1 [HSA:1134] [KO:K04803]
 MUSK [HSA:4593] [KO:K05129]
 LRP4 [HSA:4038] [KO:K20051]","ICD-11: 8C60
 ICD-10: G70.0
 MeSH: D009157","PMID:24530233
 著者        Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B
 タイトル      Diagnostic and clinical classification of autoimmune myasthenia gravis.
 雑誌        J Autoimmun 48-49:143-8 (2014)
 DOI:10.1016/j.jaut.2014.01.003
 PMID:26376969
 著者        Gilhus NE, Verschuuren JJ
 タイトル      Myasthenia gravis: subgroup classification and therapeutic strategies.
 雑誌        Lancet Neurol 14:1023-36 (2015)
 DOI:10.1016/S1474-4422(15)00145-3
 PMID:26600875
 著者        Dalakas MC
 タイトル      Future perspectives in target-specific immunotherapies of myasthenia gravis.
 雑誌        Ther Adv Neurol Disord 8:316-27 (2015)
 DOI:10.1177/1756285615605700
 PMID:27103470
 著者        Gilhus NE, Skeie GO, Romi F, Lazaridis K, Zisimopoulou P, Tzartos S
 タイトル      Myasthenia gravis - autoantibody characteristics and their implications for therapy.
 雑誌        Nat Rev Neurol 12:259-68 (2016)
 DOI:10.1038/nrneurol.2016.44
 PMID:21180568 (drug)
 著者        Gold R, Hohlfeld R, Toyka KV
 タイトル      Progress in the treatment of myasthenia gravis.
 雑誌        Ther Adv Neurol Disord 1:36-51 (2008)
 DOI:10.1177/1756285608093888
 PMID:23252892 (autoantigen)
 著者        Lindstrom J, Luo J
 タイトル      Myasthenogenicity of the main immunogenic region.
 雑誌        Ann N Y Acad Sci 1274:9-13 (2012)
 DOI:10.1111/j.1749-6632.2012.06766.x
 PMID:11231638 (autoantigen)
 著者        Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A
 タイトル      Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies.
 雑誌        Nat Med 7:365-8 (2001)
 DOI:10.1038/85520
 PMID:21387385 (autoantigen)
 著者        Higuchi O, Hamuro J, Motomura M, Yamanashi Y
 タイトル      Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis.
 雑誌        Ann Neurol 69:418-22 (2011)
 DOI:10.1002/ana.22312","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01594"">H01594</a>",重症筋無力症,"Myasthenia gravis (MG) is an autoimmune disorder characterized by a defective transmission of nerve impulses to muscles leading to muscle weakness and fatigability. Some, but not all, muscles are affected and not necessarily symmetrically. Increased weakness with continued muscle activity represents a diagnostic clue for MG, but these clinical features can vary. MG is B-cell mediated, and is associated with antibodies directed against the acetylcholine receptor (AChR), muscle-specific kinase (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients should be classified into subgroups to help with therapeutic decisions and prognosis. Subgroups based on serum antibodies and clinical features include early-onset, late-onset, thymoma, MUSK, LRP4, antibody-negative, and ocular forms of myasthenia gravis. Agrin-associated MG might emerge as a new entity. The prognosis is good with optimum symptomatic, immunosuppressive, and supportive treatment. The evolution of MG is unpredictable, but it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years.",,,,,,"ジスチグミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01228"">D01228</a>]
 アンベノニウム塩化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01001"">D01001</a>]
 ネオスチグミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00995"">D00995</a>]
 ネオスチグミンメチル硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00998"">D00998</a>]
 ピリドスチグミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00487"">D00487</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 エクリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03940"">D03940</a>]
 エフガルチギモドアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11876"">D11876</a>]","Autoantigen:
 CHRNA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1134"">1134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04803"">K04803</a>]
 MUSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4593"">4593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05129"">K05129</a>]
 LRP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4038"">4038</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20051"">K20051</a>]","ICD-11: 8C60
 ICD-10: G70.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009157"">D009157</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24530233"">24530233</a>
 著者        Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B
 タイトル      Diagnostic and clinical classification of autoimmune myasthenia gravis.
 雑誌        J Autoimmun 48-49:143-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2014.01.003"">10.1016/j.jaut.2014.01.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26376969"">26376969</a>
 著者        Gilhus NE, Verschuuren JJ
 タイトル      Myasthenia gravis: subgroup classification and therapeutic strategies.
 雑誌        Lancet Neurol 14:1023-36 (2015)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(15)00145-3"">10.1016/S1474-4422(15)00145-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26600875"">26600875</a>
 著者        Dalakas MC
 タイトル      Future perspectives in target-specific immunotherapies of myasthenia gravis.
 雑誌        Ther Adv Neurol Disord 8:316-27 (2015)
 DOI:<a href=""https://doi.org/10.1177/1756285615605700"">10.1177/1756285615605700</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27103470"">27103470</a>
 著者        Gilhus NE, Skeie GO, Romi F, Lazaridis K, Zisimopoulou P, Tzartos S
 タイトル      Myasthenia gravis - autoantibody characteristics and their implications for therapy.
 雑誌        Nat Rev Neurol 12:259-68 (2016)
 DOI:<a href=""https://doi.org/10.1038/nrneurol.2016.44"">10.1038/nrneurol.2016.44</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21180568"">21180568</a> (drug)
 著者        Gold R, Hohlfeld R, Toyka KV
 タイトル      Progress in the treatment of myasthenia gravis.
 雑誌        Ther Adv Neurol Disord 1:36-51 (2008)
 DOI:<a href=""https://doi.org/10.1177/1756285608093888"">10.1177/1756285608093888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23252892"">23252892</a> (autoantigen)
 著者        Lindstrom J, Luo J
 タイトル      Myasthenogenicity of the main immunogenic region.
 雑誌        Ann N Y Acad Sci 1274:9-13 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2012.06766.x"">10.1111/j.1749-6632.2012.06766.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11231638"">11231638</a> (autoantigen)
 著者        Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A
 タイトル      Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies.
 雑誌        Nat Med 7:365-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/85520"">10.1038/85520</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21387385"">21387385</a> (autoantigen)
 著者        Higuchi O, Hamuro J, Motomura M, Yamanashi Y
 タイトル      Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis.
 雑誌        Ann Neurol 69:418-22 (2011)
 DOI:<a href=""https://doi.org/10.1002/ana.22312"">10.1002/ana.22312</a>"
H01595,"皮膚エリテマトーデス;
 紅斑性狼瘡",,,"Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with systemic lupus erythematosus (SLE) and can also exist as a single entity without associated systemic autoimmunity (LE-specific skin disease). Despite ongoing research into the cause of CLE, it remains unclear how CLE relates to SLE pathogenesis. LE-specific skin disease includes the subtypes of CLE such as acute cutaneous LE (ACLE), subacute cutaneous LE (SCLE), chronic cutaneous LE (CCLE), and intermittent CLE (ICLE). ACLE is characterized by malar rash or maculopapular eruption on sun exposed areas. SCLE characteristically presents as annular or psoriasiform plaques in a photo distribution. CCLE can be further divided into discoid lupus erythematosus (DLE), LE profundus (LEP), chilblain LE (CLE), and LE tumidus (LET). The pathogenesis of CLE is multifactorial and involves genetic predisposition, environmental triggers, and abnormalities in the immune response. It has been reported that many genetic risk factors for CLE involve HLA or interferon-related pathways. Corticosteroids and antimalarials were considered as the most suitable and effective systemic drugs for CLE patients.",免疫系疾患; 皮膚疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 デキサメタゾン吉草酸エステル [DR:D01948]
 酪酸プロピオン酸ヒドロコルチゾン [DR:D01886]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 アルクロメタゾンプロピオン酸エステル [DR:D01820]
 ジフルコルトロン吉草酸エステル [DR:D01764]
 フルドロキシコルチド [DR:D00328]
 ジフロラゾン酢酸エステル [DR:D01327]
 アムシノニド [DR:D01387]
 ジフルプレドナート [DR:D01266]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 デプロドンプロピオン酸エステル [DR:D01434]
 ヒドロキシクロロキン硫酸塩 [DR:D02114]","See also H00080 Systemic lupus erythematosus, and H00291 Familial chilblain lupus (FCL).","ICD-11: EB50 EB51
 ICD-10: L93
 MeSH: D008178","PMID:27270345
 著者        Stannard JN, Kahlenberg JM
 タイトル      Cutaneous lupus erythematosus: updates on pathogenesis and associations with systemic lupus.
 雑誌        Curr Opin Rheumatol 28:453-9 (2016)
 DOI:10.1097/BOR.0000000000000308
 PMID:18042093
 著者        Kuhn A, Sticherling M, Bonsmann G
 タイトル      Clinical manifestations of cutaneous lupus erythematosus.
 雑誌        J Dtsch Dermatol Ges 5:1124-37 (2007)
 DOI:10.1111/j.1610-0387.2007.06554.x
 PMID:26850655 (drug)
 著者        Chasset F, Arnaud L, Costedoat-Chalumeau N, Zahr N, Bessis D, Frances C
 タイトル      The effect of increasing the dose of hydroxychloroquine (HCQ) in patients with refractory cutaneous lupus erythematosus (CLE): An open-label prospective pilot study.
 雑誌        J Am Acad Dermatol 74:693-699.e3 (2016)
 DOI:10.1016/j.jaad.2015.09.064","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01595"">H01595</a>","皮膚エリテマトーデス;
 紅斑性狼瘡","Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with systemic lupus erythematosus (SLE) and can also exist as a single entity without associated systemic autoimmunity (LE-specific skin disease). Despite ongoing research into the cause of CLE, it remains unclear how CLE relates to SLE pathogenesis. LE-specific skin disease includes the subtypes of CLE such as acute cutaneous LE (ACLE), subacute cutaneous LE (SCLE), chronic cutaneous LE (CCLE), and intermittent CLE (ICLE). ACLE is characterized by malar rash or maculopapular eruption on sun exposed areas. SCLE characteristically presents as annular or psoriasiform plaques in a photo distribution. CCLE can be further divided into discoid lupus erythematosus (DLE), LE profundus (LEP), chilblain LE (CLE), and LE tumidus (LET). The pathogenesis of CLE is multifactorial and involves genetic predisposition, environmental triggers, and abnormalities in the immune response. It has been reported that many genetic risk factors for CLE involve HLA or interferon-related pathways. Corticosteroids and antimalarials were considered as the most suitable and effective systemic drugs for CLE patients.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 デキサメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01948"">D01948</a>]
 酪酸プロピオン酸ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01886"">D01886</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 アルクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01820"">D01820</a>]
 ジフルコルトロン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01764"">D01764</a>]
 フルドロキシコルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00328"">D00328</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 アムシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01387"">D01387</a>]
 ジフルプレドナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01266"">D01266</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 デプロドンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01434"">D01434</a>]
 ヒドロキシクロロキン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02114"">D02114</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080"">H00080</a> Systemic lupus erythematosus, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00291"">H00291</a> Familial chilblain lupus (FCL).","ICD-11: EB50 EB51
 ICD-10: L93
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008178"">D008178</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27270345"">27270345</a>
 著者        Stannard JN, Kahlenberg JM
 タイトル      Cutaneous lupus erythematosus: updates on pathogenesis and associations with systemic lupus.
 雑誌        Curr Opin Rheumatol 28:453-9 (2016)
 DOI:<a href=""https://doi.org/10.1097/BOR.0000000000000308"">10.1097/BOR.0000000000000308</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18042093"">18042093</a>
 著者        Kuhn A, Sticherling M, Bonsmann G
 タイトル      Clinical manifestations of cutaneous lupus erythematosus.
 雑誌        J Dtsch Dermatol Ges 5:1124-37 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1610-0387.2007.06554.x"">10.1111/j.1610-0387.2007.06554.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26850655"">26850655</a> (drug)
 著者        Chasset F, Arnaud L, Costedoat-Chalumeau N, Zahr N, Bessis D, Frances C
 タイトル      The effect of increasing the dose of hydroxychloroquine (HCQ) in patients with refractory cutaneous lupus erythematosus (CLE): An open-label prospective pilot study.
 雑誌        J Am Acad Dermatol 74:693-699.e3 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2015.09.064"">10.1016/j.jaad.2015.09.064</a>"
H01596,イートン・ランバート症候群,,,"The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic nerve terminal play a major role in decreasing quantal release of acetylcholine (ACh). Clinically, LEMS patients suffer from characteristic muscle weakness and autonomic symptoms. The underlying cause of LEMS in slightly more than half of all patients is small cell lung carcinoma (SCLC) [DS:H00013]. The nerve terminal and carcinoma cells apparently share a common antigen (VGCC), suggesting an immunological cross-reactivity that may lead to the neurological abnormality. Cancer therapy is the priority for these patients. As for the remaining cases, no antibodies to P/Q-type VGCCs have been found in 10-15% of patients with LEMS. The fact that these seronegative patients positively respond to immunotherapy leads to the presumption that antibodies to other proteins might play a role in LEMS. Diagnosis of LEMS is ascertained on the basis of clinical symptoms and is further supported by electrophysiological and serological tests. The clinical triad in LEMS consists of weakness predominantly affecting proximal muscle groups, autonomic dysfunctions, and areflexia. Besides oncological treatment in case of SCLC-LEMS, treatment is based on symptomatic and semi-specific immunosuppressive therapy.",神経系疾患; 免疫系疾患,,,,,,,"Autoantigen:
 CACNB2 [HSA:783] [KO:K04863]","ICD-11: 8C62
 ICD-10: G73.1
 MeSH: D015624","PMID:25195700 (description, drug)
 著者        Tarr TB, Wipf P, Meriney SD
 タイトル      Synaptic Pathophysiology and Treatment of Lambert-Eaton Myasthenic Syndrome.
 雑誌        Mol Neurobiol 52:456-63 (2015)
 DOI:10.1007/s12035-014-8887-2
 PMID:25065299
 著者        Hulsbrink R, Hashemolhosseini S
 タイトル      Lambert-Eaton myasthenic syndrome - diagnosis, pathogenesis and therapy.
 雑誌        Clin Neurophysiol 125:2328-36 (2014)
 DOI:10.1016/j.clinph.2014.06.031
 PMID:18653248 (description, autoantigen)
 著者        Takamori M
 タイトル      Lambert-Eaton myasthenic syndrome: search for alternative autoimmune targets and possible compensatory mechanisms based on presynaptic calcium homeostasis.
 雑誌        J Neuroimmunol 201-202:145-52 (2008)
 DOI:10.1016/j.jneuroim.2008.04.040","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01596"">H01596</a>",イートン・ランバート症候群,"The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic nerve terminal play a major role in decreasing quantal release of acetylcholine (ACh). Clinically, LEMS patients suffer from characteristic muscle weakness and autonomic symptoms. The underlying cause of LEMS in slightly more than half of all patients is small cell lung carcinoma (SCLC) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00013]."">H00013].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nerve"">nerve</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:terminal"">terminal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:carcinoma"">carcinoma</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cells"">cells</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:apparently"">apparently</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:share"">share</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:common"">common</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:antigen"">antigen</a> (VGCC), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:suggesting"">suggesting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:immunological"">immunological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cross-reactivity"">cross-reactivity</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lead"">lead</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neurological"">neurological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:abnormality."">abnormality.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Cancer"">Cancer</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:therapy"">therapy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:priority"">priority</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients."">patients.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:As"">As</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:remaining"">remaining</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cases,"">cases,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:no"">no</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:antibodies"">antibodies</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:P/Q-type"">P/Q-type</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:VGCCs"">VGCCs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:10-15%"">10-15%</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:LEMS."">LEMS.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fact"">fact</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:seronegative"">seronegative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:positively"">positively</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respond"">respond</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:immunotherapy"">immunotherapy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:leads"">leads</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:presumption"">presumption</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:antibodies"">antibodies</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:other"">other</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:proteins"">proteins</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:might"">might</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:play"">play</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:role"">role</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:LEMS."">LEMS.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Diagnosis"">Diagnosis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:LEMS"">LEMS</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ascertained"">ascertained</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:basis"">basis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical"">clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptoms"">symptoms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:further"">further</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:supported"">supported</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:electrophysiological"">electrophysiological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:serological"">serological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tests."">tests.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical"">clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:triad"">triad</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:LEMS"">LEMS</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:consists"">consists</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:weakness"">weakness</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:predominantly"">predominantly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:affecting"">affecting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:proximal"">proximal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:muscle"">muscle</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:groups,"">groups,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autonomic"">autonomic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dysfunctions,"">dysfunctions,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:areflexia."">areflexia.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Besides"">Besides</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:oncological"">oncological</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:treatment"">treatment</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:case"">case</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:SCLC-LEMS,"">SCLC-LEMS,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:treatment"">treatment</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:based"">based</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptomatic"">symptomatic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:semi-specific"">semi-specific</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:immunosuppressive"">immunosuppressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:therapy."">therapy.</a>",,,,,,,"Autoantigen:
 CACNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:783"">783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04863"">K04863</a>]","ICD-11: 8C62
 ICD-10: G73.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015624"">D015624</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25195700"">25195700</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Tarr TB, Wipf P, Meriney SD
 タイトル      Synaptic Pathophysiology and Treatment of Lambert-Eaton Myasthenic Syndrome.
 雑誌        Mol Neurobiol 52:456-63 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12035-014-8887-2"">10.1007/s12035-014-8887-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25065299"">25065299</a>
 著者        Hulsbrink R, Hashemolhosseini S
 タイトル      Lambert-Eaton myasthenic syndrome - diagnosis, pathogenesis and therapy.
 雑誌        Clin Neurophysiol 125:2328-36 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.clinph.2014.06.031"">10.1016/j.clinph.2014.06.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18653248"">18653248</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/autoantigen)"">autoantigen)</a>
 著者        Takamori M
 タイトル      Lambert-Eaton myasthenic syndrome: search for alternative autoimmune targets and possible compensatory mechanisms based on presynaptic calcium homeostasis.
 雑誌        J Neuroimmunol 201-202:145-52 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jneuroim.2008.04.040"">10.1016/j.jneuroim.2008.04.040</a>"
H01597,"レストレスレッグス症候群;
 むずむず脚症候群;
 下肢静止不能症候群",,,"The restless legs syndrome (RLS), also known as Willis Ekbom disease is a neurologic disorder characterized by unpleasant sensations in the legs accompanied by an urge to move them (akathisia). These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. The prevalence of RLS increases with age and appears to be higher among women than among men. RLS has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Standard medications for RLS are dopamine agonists and CACN alpha-2 delta blocker. A high prevalence of iron deficiency has been found among patients with RLS. It has been reported that treatment with oral iron supplements resulted in improvements in the severity of the symptoms in patients with a low serum ferritin level.",神経系疾患,,,,,,"プラミペキソール塩酸塩水和物 [DR:D00559]
 ロチゴチン [DR:D05768]
 ガバペンチンエナカルビル [DR:D09539]",,"ICD-11: 7A80
 ICD-10: G25.8
 MeSH: D012148
 OMIM: 102300","PMID:12761367
 著者        Earley CJ
 タイトル      Clinical practice. Restless legs syndrome.
 雑誌        N Engl J Med 348:2103-9 (2003)
 DOI:10.1056/NEJMcp021288
 PMID:23192925
 著者        Weissbach A, Siegesmund K, Bruggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K
 タイトル      Exome sequencing in a family with restless legs syndrome.
 雑誌        Mov Disord 27:1686-9 (2012)
 DOI:10.1002/mds.25191
 PMID:27224246 (drug)
 著者        Ferini-Strambi L, Marelli S, Galbiati A
 タイトル      Clinical pharmacology and efficacy of rotigotine (Neupro(R) patch) in the treatment of restless leg syndrome.
 雑誌        Expert Opin Drug Metab Toxicol 1-9 (2016)
 DOI:10.1080/17425255.2016.1194393","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01597"">H01597</a>","レストレスレッグス症候群;
 むずむず脚症候群;
 下肢静止不能症候群","The restless legs syndrome (RLS), also known as Willis Ekbom disease is a neurologic disorder characterized by unpleasant sensations in the legs accompanied by an urge to move them (akathisia). These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. The prevalence of RLS increases with age and appears to be higher among women than among men. RLS has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Standard medications for RLS are dopamine agonists and CACN alpha-2 delta blocker. A high prevalence of iron deficiency has been found among patients with RLS. It has been reported that treatment with oral iron supplements resulted in improvements in the severity of the symptoms in patients with a low serum ferritin level.",,,,,,"プラミペキソール塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00559"">D00559</a>]
 ロチゴチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05768"">D05768</a>]
 ガバペンチンエナカルビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09539"">D09539</a>]",,"ICD-11: 7A80
 ICD-10: G25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012148"">D012148</a>
 OMIM: <a href=""https://www.omim.org/entry/102300"">102300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12761367"">12761367</a>
 著者        Earley CJ
 タイトル      Clinical practice. Restless legs syndrome.
 雑誌        N Engl J Med 348:2103-9 (2003)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp021288"">10.1056/NEJMcp021288</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23192925"">23192925</a>
 著者        Weissbach A, Siegesmund K, Bruggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K
 タイトル      Exome sequencing in a family with restless legs syndrome.
 雑誌        Mov Disord 27:1686-9 (2012)
 DOI:<a href=""https://doi.org/10.1002/mds.25191"">10.1002/mds.25191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27224246"">27224246</a> (drug)
 著者        Ferini-Strambi L, Marelli S, Galbiati A
 タイトル      Clinical pharmacology and efficacy of rotigotine (Neupro(R) patch) in the treatment of restless leg syndrome.
 雑誌        Expert Opin Drug Metab Toxicol 1-9 (2016)
 DOI:<a href=""https://doi.org/10.1080/17425255.2016.1194393"">10.1080/17425255.2016.1194393</a>"
H01598,"アジソン病;
 原発性副腎機能不全;
 副腎機能低下症
 上位グループ    Xp21欠失症候群 [DS:H00552]",,,"Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adorenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids.",内分泌系疾患,,NR0B1 [HSA:190] [KO:K08562],,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 フルドロコルチゾン酢酸エステル [DR:D00986]",,"ICD-11: 5A74.0
 ICD-10: E27.1
 MeSH: D000224
 OMIM: 240200 300200","PMID:24755997
 著者        Napier C, Pearce SH
 タイトル      Current and emerging therapies for Addison's disease.
 雑誌        Curr Opin Endocrinol Diabetes Obes 21:147-53 (2014)
 DOI:10.1097/MED.0000000000000067
 PMID:24695602 (drug, marker)
 著者        Michels A, Michels N
 タイトル      Addison disease: early detection and treatment principles.
 雑誌        Am Fam Physician 89:563-8 (2014)
 PMID:9529340
 著者        Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER
 タイトル      DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
 雑誌        Am J Hum Genet 62:855-64 (1998)
 DOI:10.1086/301782","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01598"">H01598</a>","アジソン病;
 原発性副腎機能不全;
 副腎機能低下症
 上位グループ    Xp21欠失症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00552"">H00552</a>]","Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adorenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids.",,"NR0B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:190"">190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08562"">K08562</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 フルドロコルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00986"">D00986</a>]",,"ICD-11: 5A74.0
 ICD-10: E27.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000224"">D000224</a>
 OMIM: <a href=""https://www.omim.org/entry/240200"">240200</a> <a href=""https://www.omim.org/entry/300200"">300200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24755997"">24755997</a>
 著者        Napier C, Pearce SH
 タイトル      Current and emerging therapies for Addison's disease.
 雑誌        Curr Opin Endocrinol Diabetes Obes 21:147-53 (2014)
 DOI:<a href=""https://doi.org/10.1097/MED.0000000000000067"">10.1097/MED.0000000000000067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24695602"">24695602</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Michels A, Michels N
 タイトル      Addison disease: early detection and treatment principles.
 雑誌        Am Fam Physician 89:563-8 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9529340"">9529340</a>
 著者        Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER
 タイトル      DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
 雑誌        Am J Hum Genet 62:855-64 (1998)
 DOI:<a href=""https://doi.org/10.1086/301782"">10.1086/301782</a>"
H01599,好酸球増多症候群,,,"Hypereosinophilic syndrome (HES) is a heterogeneous group of rare disorders characterized by marked blood or tissue eosinophilia resulting in a wide variety of clinical manifestations. A number of HES subtypes, or variants, have recently been identified. The best characterized of the clonal molecular defects implicated in myeloproliferative variant HES is the 800-kb interstitial deletion on chromosome 4q12 resulting in the fusion of 2 distinct genes, Fip1-like 1 (FIP1L1) and platelet-derived growth factor receptor-a (PDGFRA), leading to the FIP1L1-PDGFRA fusion kinase. PDGFR is a membrane-bound tyrosine kinase receptor and the fusion PDGFRA kinase has constitutive/unregulated tyrosine kinase activity. The lymphocytic HES variant is associated with T-cell clones producing interleukin-5 (IL-5) and can evolve into lymphoma. While myeloproliferative and lymphocytic HES are well established and permit elimination of the term, idiopathic, to these varieties, most HES patients do not fall into these categories and are classified as complex.",がん,,FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363],"Parasitic (helminths, ectoparasites, Isospora, Sarcocystis)
 Fungal (coccidiomycosis)
 Viral (HIV, HTLV)
 Bacterial (Mycobacterium tuberculosis)",,,イマチニブメシル酸塩 [DR:D01441] (FIP1L1-PDGFRα陽性),,"ICD-11: 2A20.3
 ICD-10: D47.5
 MeSH: D017681
 OMIM: 607685","PMID:26475367 (gene, env_factor, drug)
 著者        Curtis C, Ogbogu P
 タイトル      Hypereosinophilic Syndrome.
 雑誌        Clin Rev Allergy Immunol 50:240-51 (2016)
 DOI:10.1007/s12016-015-8506-7
 PMID:24726650 (description, gene, drug)
 著者        Hsieh FH
 タイトル      Hypereosinophilic syndrome.
 雑誌        Ann Allergy Asthma Immunol 112:484-8 (2014)
 DOI:10.1016/j.anai.2014.03.004
 PMID:19630574 (description, drug)
 著者        Klion A
 タイトル      Hypereosinophilic syndrome: current approach to diagnosis and treatment.
 雑誌        Annu Rev Med 60:293-306 (2009)
 DOI:10.1146/annurev.med.60.062107.090340
 PMID:16184589 (drug)
 著者        Wilkins HJ, Crane MM, Copeland K, Williams WV
 タイトル      Hypereosinophilic syndrome: an update.
 雑誌        Am J Hematol 80:148-57 (2005)
 DOI:10.1002/ajh.20423
 PMID:19243381 (description, gene, drug)
 著者        Gleich GJ, Leiferman KM
 タイトル      The hypereosinophilic syndromes: current concepts and treatments.
 雑誌        Br J Haematol 145:271-85 (2009)
 DOI:10.1111/j.1365-2141.2009.07599.x
 PMID:20071982 (gene, marker, drug)
 著者        Gotlib J
 タイトル      Eosinophilic myeloid disorders: new classification and novel therapeutic strategies.
 雑誌        Curr Opin Hematol 17:117-24 (2010)
 DOI:10.1097/MOH.0b013e3283366c70","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01599"">H01599</a>",好酸球増多症候群,"Hypereosinophilic syndrome (HES) is a heterogeneous group of rare disorders characterized by marked blood or tissue eosinophilia resulting in a wide variety of clinical manifestations. A number of HES subtypes, or variants, have recently been identified. The best characterized of the clonal molecular defects implicated in myeloproliferative variant HES is the 800-kb interstitial deletion on chromosome 4q12 resulting in the fusion of 2 distinct genes, Fip1-like 1 (FIP1L1) and platelet-derived growth factor receptor-a (PDGFRA), leading to the FIP1L1-PDGFRA fusion kinase. PDGFR is a membrane-bound tyrosine kinase receptor and the fusion PDGFRA kinase has constitutive/unregulated tyrosine kinase activity. The lymphocytic HES variant is associated with T-cell clones producing interleukin-5 (IL-5) and can evolve into lymphoma. While myeloproliferative and lymphocytic HES are well established and permit elimination of the term, idiopathic, to these varieties, most HES patients do not fall into these categories and are classified as complex.",,"FIP1L1-PDGFRA (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5156"">5156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04363"">K04363</a>]","Parasitic (helminths, ectoparasites, Isospora, Sarcocystis)
 Fungal (coccidiomycosis)
 Viral (HIV, HTLV)
 Bacterial (Mycobacterium tuberculosis)",,,"イマチニブメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01441"">D01441</a>] (FIP1L1-PDGFRα陽性)",,"ICD-11: 2A20.3
 ICD-10: D47.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017681"">D017681</a>
 OMIM: <a href=""https://www.omim.org/entry/607685"">607685</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26475367"">26475367</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Curtis C, Ogbogu P
 タイトル      Hypereosinophilic Syndrome.
 雑誌        Clin Rev Allergy Immunol 50:240-51 (2016)
 DOI:<a href=""https://doi.org/10.1007/s12016-015-8506-7"">10.1007/s12016-015-8506-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24726650"">24726650</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Hsieh FH
 タイトル      Hypereosinophilic syndrome.
 雑誌        Ann Allergy Asthma Immunol 112:484-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.anai.2014.03.004"">10.1016/j.anai.2014.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19630574"">19630574</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Klion A
 タイトル      Hypereosinophilic syndrome: current approach to diagnosis and treatment.
 雑誌        Annu Rev Med 60:293-306 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.med.60.062107.090340"">10.1146/annurev.med.60.062107.090340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16184589"">16184589</a> (drug)
 著者        Wilkins HJ, Crane MM, Copeland K, Williams WV
 タイトル      Hypereosinophilic syndrome: an update.
 雑誌        Am J Hematol 80:148-57 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajh.20423"">10.1002/ajh.20423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19243381"">19243381</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Gleich GJ, Leiferman KM
 タイトル      The hypereosinophilic syndromes: current concepts and treatments.
 雑誌        Br J Haematol 145:271-85 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2009.07599.x"">10.1111/j.1365-2141.2009.07599.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20071982"">20071982</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Gotlib J
 タイトル      Eosinophilic myeloid disorders: new classification and novel therapeutic strategies.
 雑誌        Curr Opin Hematol 17:117-24 (2010)
 DOI:<a href=""https://doi.org/10.1097/MOH.0b013e3283366c70"">10.1097/MOH.0b013e3283366c70</a>"
H01600,パーキンソン症候群,,,"Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the neurologist. PS include idiopathic Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and vascular Parkinsonism (VaP), among other rarer causes of parkinsonism. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset.",神経変性疾患,,"SNCA [HSA:6622] [KO:K04528]
 LRRK2 [HSA:120892] [KO:K08844]
 Parkin [HSA:5071] [KO:K04556]
 PINK1 [HSA:65018] [KO:K05688]
 DJ-1 [HSA:11315] [KO:K05687]
 ATP13A2 [HSA:23400] [KO:K13526]
 SYNJ1 [HSA:8867] [KO:K20279]
 DNAJC13 [HSA:23317] [KO:K09533]
 VPS13C [HSA:54832] [KO:K19525]",,"MPTP [CPD:C04599]
 Rotenone [CPD:C07593]
 Maneb [CPD:C15231]
 Paraquat [CPD:C14701]",,"アマンタジン塩酸塩 [DR:D00777]
 ビペリデン塩酸塩 [DR:D02246]
 乳酸ビペリデン [DR:D02247]
 レボドパ [DR:D00059]
 プロメタジンメチレンジサリチル酸塩 [DR:D03290]
 ブロモクリプチンメシル酸塩 [DR:D00780]
 トリヘキシフェニジル塩酸塩 [DR:D00787]
 マザチコール塩酸塩水和物 [DR:D03264]
 レボドパ・カルビドパ水和物 [DR:D00253]
 レボドパ・ベンセラジド塩酸塩 [DR:D02135]
 ピロヘプチン塩酸塩 [DR:D01231]
 アトロピン硫酸塩水和物 [DR:D02069]
 スコポラミン臭化水素酸塩水和物 [DR:D02071]
 プロメタジン塩酸塩 [DR:D00480]
 プロメタジンヒベンズ酸塩 [DR:D08768]",,"ICD-11: 8A00
 ICD-10: G20 G21
 MeSH: D020734","PMID:24092286 (description, drug)
 著者        Williams DR, Litvan I
 タイトル      Parkinsonian syndromes.
 雑誌        Continuum (Minneap Minn) 19:1189-212 (2013)
 DOI:10.1212/01.CON.0000436152.24038.e0
 PMID:18267242
 著者        Bonifati V
 タイトル      Genetics of parkinsonism.
 雑誌        Parkinsonism Relat Disord 13 Suppl 3:S233-41 (2007)
 DOI:10.1016/S1353-8020(08)70008-7
 PMID:15033141
 著者        Pezzoli G, Canesi M, Galli C
 タイトル      An overview of parkinsonian syndromes: data from the literature and from an Italian data-base.
 雑誌        Sleep Med 5:181-7 (2004)
 DOI:10.1016/j.sleep.2003.10.009
 PMID:18787878
 著者        Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wullner U, Gasser T
 タイトル      Genes associated with Parkinson syndrome.
 雑誌        J Neurol 255 Suppl 5:8-17 (2008)
 DOI:10.1007/s00415-008-5005-2
 PMID:19729209 (env_factor)
 著者        Cicchetti F, Drouin-Ouellet J, Gross RE
 タイトル      Environmental toxins and Parkinson's disease: what have we learned from pesticide-induced animal models?
 雑誌        Trends Pharmacol Sci 30:475-83 (2009)
 DOI:10.1016/j.tips.2009.06.005
 PMID:23804577
 著者        Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V
 タイトル      Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
 雑誌        Hum Mutat 34:1208-15 (2013)
 DOI:10.1002/humu.22373
 PMID:25186792
 著者        Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, Dinelle K, McCormick SE, Vilarino-Guell C, Stoessl AJ, Dickson DW, Robinson CA, Farrer MJ, Rajput A
 タイトル      Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
 雑誌        Mov Disord 29:1684-7 (2014)
 DOI:10.1002/mds.26019
 PMID:26942284
 著者        Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A
 タイトル      Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
 雑誌        Am J Hum Genet 98:500-13 (2016)
 DOI:10.1016/j.ajhg.2016.01.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01600"">H01600</a>",パーキンソン症候群,"Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the neurologist. PS include idiopathic Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and vascular Parkinsonism (VaP), among other rarer causes of parkinsonism. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset.",,"SNCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6622"">6622</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04528"">K04528</a>]
 LRRK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:120892"">120892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08844"">K08844</a>]
 Parkin [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5071"">5071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04556"">K04556</a>]
 PINK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65018"">65018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05688"">K05688</a>]
 DJ-1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11315"">11315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05687"">K05687</a>]
 ATP13A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23400"">23400</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13526"">K13526</a>]
 SYNJ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8867"">8867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20279"">K20279</a>]
 DNAJC13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23317"">23317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09533"">K09533</a>]
 VPS13C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54832"">54832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19525"">K19525</a>]",,"MPTP [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C04599"">C04599</a>]
 Rotenone [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07593"">C07593</a>]
 Maneb [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C15231"">C15231</a>]
 Paraquat [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C14701"">C14701</a>]",,"アマンタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00777"">D00777</a>]
 ビペリデン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02246"">D02246</a>]
 乳酸ビペリデン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02247"">D02247</a>]
 レボドパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00059"">D00059</a>]
 プロメタジンメチレンジサリチル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03290"">D03290</a>]
 ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 トリヘキシフェニジル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00787"">D00787</a>]
 マザチコール塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03264"">D03264</a>]
 レボドパ・カルビドパ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00253"">D00253</a>]
 レボドパ・ベンセラジド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02135"">D02135</a>]
 ピロヘプチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01231"">D01231</a>]
 アトロピン硫酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02069"">D02069</a>]
 スコポラミン臭化水素酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02071"">D02071</a>]
 プロメタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00480"">D00480</a>]
 プロメタジンヒベンズ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08768"">D08768</a>]",,"ICD-11: 8A00
 ICD-10: G20 G21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020734"">D020734</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24092286"">24092286</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Williams DR, Litvan I
 タイトル      Parkinsonian syndromes.
 雑誌        Continuum (Minneap Minn) 19:1189-212 (2013)
 DOI:<a href=""https://doi.org/10.1212/01.CON.0000436152.24038.e0"">10.1212/01.CON.0000436152.24038.e0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18267242"">18267242</a>
 著者        Bonifati V
 タイトル      Genetics of parkinsonism.
 雑誌        Parkinsonism Relat Disord 13 Suppl 3:S233-41 (2007)
 DOI:<a href=""https://doi.org/10.1016/S1353-8020(08)70008-7"">10.1016/S1353-8020(08)70008-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15033141"">15033141</a>
 著者        Pezzoli G, Canesi M, Galli C
 タイトル      An overview of parkinsonian syndromes: data from the literature and from an Italian data-base.
 雑誌        Sleep Med 5:181-7 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.sleep.2003.10.009"">10.1016/j.sleep.2003.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18787878"">18787878</a>
 著者        Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wullner U, Gasser T
 タイトル      Genes associated with Parkinson syndrome.
 雑誌        J Neurol 255 Suppl 5:8-17 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00415-008-5005-2"">10.1007/s00415-008-5005-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19729209"">19729209</a> (env_factor)
 著者        Cicchetti F, Drouin-Ouellet J, Gross RE
 タイトル      Environmental toxins and Parkinson's disease: what have we learned from pesticide-induced animal models?
 雑誌        Trends Pharmacol Sci 30:475-83 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.tips.2009.06.005"">10.1016/j.tips.2009.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23804577"">23804577</a>
 著者        Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V
 タイトル      Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
 雑誌        Hum Mutat 34:1208-15 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22373"">10.1002/humu.22373</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25186792"">25186792</a>
 著者        Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, Dinelle K, McCormick SE, Vilarino-Guell C, Stoessl AJ, Dickson DW, Robinson CA, Farrer MJ, Rajput A
 タイトル      Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
 雑誌        Mov Disord 29:1684-7 (2014)
 DOI:<a href=""https://doi.org/10.1002/mds.26019"">10.1002/mds.26019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26942284"">26942284</a>
 著者        Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A
 タイトル      Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
 雑誌        Am J Hum Genet 98:500-13 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.01.014"">10.1016/j.ajhg.2016.01.014</a>"
H01601,"未分化大細胞リンパ腫
 上位グループ    末梢性T細胞リンパ腫 [DS:H01892]
 非ホジキンリンパ腫 [DS:H02418]
 非ホジキンリンパ腫 [DS:H02418]",,,"Anaplastic large cell lymphoma (ALCL) is a lymphoid neoplasm characterized by a proliferation of large lymphoid cells, referred to as hallmark cells, with strong expression of CD30. The World Health Organization recognizes 3 entities: primary cutaneous ALCL (pcALCL), anaplastic lymphoma kinase (ALK)-positive ALCL, and, provisionally, ALK-negative ALCL. pcALCL presents in the skin and, while it may involve locoregional lymph nodes, rarely disseminates. ALK-positive ALCL, by definition overexpresses an ALK-fusion gene, typically via t(2;5)(p23;35) which fuses the ALK gene on chromosome 2 with the nucleophosmin (NPM) gene on chromosome 5, resulting in a NPM-ALK chimeric protein with constitutive tyrosine kinase activity. ALK-negative ALCLs lack ALK rearrangements and their genetic and clinical features are more variable. A subset of ALK-negative ALCLs has rearrangements at 6p25.3 involving DUSP22, a gene encoding a dual-specificity phosphatase that inhibits T-cell receptor signaling. DUSP22 rearrangements also are seen in a subset of pcALCLs.",がん,,"NPM-ALK (translocation) [HSA:238] [KO:K05119]
 DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]",,,,アレクチニブ塩酸塩 [DR:D10450] (ALK融合遺伝子陽性),,"ICD-11: 2A90.A 2A90.B
 ICD-10: C84.6 C84.7
 MeSH: D017728","PMID:25869285 (gene, drug)
 著者        Hapgood G, Savage KJ
 タイトル      The biology and management of systemic anaplastic large cell lymphoma.
 雑誌        Blood 126:17-25 (2015)
 DOI:10.1182/blood-2014-10-567461
 PMID:23065407 (drug)
 著者        Vadakara J, Pro B
 タイトル      Targeting CD30 in anaplastic large cell lymphoma.
 雑誌        Curr Hematol Malig Rep 7:285-91 (2012)
 DOI:10.1007/s11899-012-0137-y
 PMID:25461779 (description, gene, ICD-O-3)
 著者        Xing X, Feldman AL
 タイトル      Anaplastic large cell lymphomas: ALK positive, ALK negative, and primary cutaneous.
 雑誌        Adv Anat Pathol 22:29-49 (2015)
 DOI:10.1097/PAP.0000000000000047
 PMID:24766435 (description, gene, ICD-O-3, drug)
 著者        Eyre TA, Khan D, Hall GW, Collins GP
 タイトル      Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma: current and future perspectives in adult and paediatric disease.
 雑誌        Eur J Haematol 93:455-68 (2014)
 DOI:10.1111/ejh.12360
 PMID:26769771
 著者        Gaulard P, de Leval L
 タイトル      ALK-negative anaplastic large-cell lymphoma.
 雑誌        Blood 127:175-7 (2016)
 DOI:10.1182/blood-2015-11-676916","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01601"">H01601</a>","未分化大細胞リンパ腫
 上位グループ    末梢性T細胞リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01892"">H01892</a>]
 非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]
 非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Anaplastic large cell lymphoma (ALCL) is a lymphoid neoplasm characterized by a proliferation of large lymphoid cells, referred to as hallmark cells, with strong expression of CD30. The World Health Organization recognizes 3 entities: primary cutaneous ALCL (pcALCL), anaplastic lymphoma kinase (ALK)-positive ALCL, and, provisionally, ALK-negative ALCL. pcALCL presents in the skin and, while it may involve locoregional lymph nodes, rarely disseminates. ALK-positive ALCL, by definition overexpresses an ALK-fusion gene, typically via t(2;5)(p23;35) which fuses the ALK gene on chromosome 2 with the nucleophosmin (NPM) gene on chromosome 5, resulting in a NPM-ALK chimeric protein with constitutive tyrosine kinase activity. ALK-negative ALCLs lack ALK rearrangements and their genetic and clinical features are more variable. A subset of ALK-negative ALCLs has rearrangements at 6p25.3 involving DUSP22, a gene encoding a dual-specificity phosphatase that inhibits T-cell receptor signaling. DUSP22 rearrangements also are seen in a subset of pcALCLs.",,"NPM-ALK (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:238"">238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05119"">K05119</a>]
 DUSP22-IRF4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56940"">56940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14165"">K14165</a>]",,,,"アレクチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10450"">D10450</a>] (ALK融合遺伝子陽性)",,"ICD-11: 2A90.A 2A90.B
 ICD-10: C84.6 C84.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017728"">D017728</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25869285"">25869285</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Hapgood G, Savage KJ
 タイトル      The biology and management of systemic anaplastic large cell lymphoma.
 雑誌        Blood 126:17-25 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-10-567461"">10.1182/blood-2014-10-567461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23065407"">23065407</a> (drug)
 著者        Vadakara J, Pro B
 タイトル      Targeting CD30 in anaplastic large cell lymphoma.
 雑誌        Curr Hematol Malig Rep 7:285-91 (2012)
 DOI:<a href=""https://doi.org/10.1007/s11899-012-0137-y"">10.1007/s11899-012-0137-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25461779"">25461779</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ICD-O-3)"">ICD-O-3)</a>
 著者        Xing X, Feldman AL
 タイトル      Anaplastic large cell lymphomas: ALK positive, ALK negative, and primary cutaneous.
 雑誌        Adv Anat Pathol 22:29-49 (2015)
 DOI:<a href=""https://doi.org/10.1097/PAP.0000000000000047"">10.1097/PAP.0000000000000047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24766435"">24766435</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/gene,"">gene,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ICD-O-3,"">ICD-O-3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Eyre TA, Khan D, Hall GW, Collins GP
 タイトル      Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma: current and future perspectives in adult and paediatric disease.
 雑誌        Eur J Haematol 93:455-68 (2014)
 DOI:<a href=""https://doi.org/10.1111/ejh.12360"">10.1111/ejh.12360</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26769771"">26769771</a>
 著者        Gaulard P, de Leval L
 タイトル      ALK-negative anaplastic large-cell lymphoma.
 雑誌        Blood 127:175-7 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-11-676916"">10.1182/blood-2015-11-676916</a>"
H01602,"胃食道逆流症
 下位グループ    非びらん性胃食道逆流症 (NERD)
 逆流性食道炎 (ERD)",,,"Gastroesophageal reflux disease (GERD) is a condition in which reflux of the stomach contents into the oesophagus results in symptoms or, occasionally, complications. GERD can be classified as non-erosive reflux disease (NERD) or erosive reflux disease (ERD) based on the presence or absence of esophageal mucosal damage seen on endoscopy. ERD can manifest in a wide range of symptoms which can be subdivided into typical, atypical, and extraesophageal symptoms. Typical symptoms include heartburn and acid regurgitation which have high specificity but low sensitivity for GERD. Atypical symptoms such as epigastric pain, dyspepsia, nausea, bloating, and belching may be suggestive of GERD but may overlap with other conditions in the differential diagnosis. Lastly, there are various extraesophageal symptoms including chronic cough, asthma, laryngitis, and dental erosions. In a small but important minority, complications of peptic esophagitis may occur including esophageal strictures, Barrett's oesophagus, and rarely esophageal adenocarcinoma. Hiatus hernia is statistically associated with GERD, the presence of which is relevant to surgical treatment. The diagnosis is typically made by a combination of clinical symptoms, response to acid suppression, as well as objective testing with upper endoscopy and esophageal pH monitoring. GERD is a chronic disease that typically requires long term management in the form of lifestyle modification, medical therapy and, for a subset of patients, surgical therapy. The mainstay of treatment is acid suppression which can be achieved with several classes of medications including antacids, histamine-receptor antagonists (H2RAs), or proton-pump inhibitors (PPIs).",消化器系疾患,,,,,,"シメチジン [DR:D00295]
 ラニチジン塩酸塩 [DR:D00673]
 ファモチジン [DR:D00318]
 ニザチジン [DR:D00440]
 ロキサチジン酢酸エステル塩酸塩 [DR:D01467]
 ラフチジン [DR:D01131]
 オメプラゾール [DR:D00455]
 ランソプラゾール [DR:D00355]
 ラベプラゾールナトリウム [DR:D00724]
 エソメプラゾールマグネシウム水和物 [DR:D01984]
 ボノプラザンフマル酸塩 [DR:D10466]
 アルギン酸ナトリウム [DR:D03336]
 カモスタットメシル酸塩 [DR:D01766]",,"ICD-11: DA22
 ICD-10: K21
 MeSH: D005764","PMID:21649454
 著者        Patrick L
 タイトル      Gastroesophageal reflux disease (GERD): a review of conventional and alternative treatments.
 雑誌        Altern Med Rev 16:116-33 (2011)
 PMID:25133039 (description, drug)
 著者        Badillo R, Francis D
 タイトル      Diagnosis and treatment of gastroesophageal reflux disease.
 雑誌        World J Gastrointest Pharmacol Ther 5:105-12 (2014)
 DOI:10.4292/wjgpt.v5.i3.105
 PMID:27041798
 著者        Keung C, Hebbard G
 タイトル      The management of gastro-oesophageal reflux disease.
 雑誌        Aust Prescr 39:6-10 (2016)
 DOI:10.18773/austprescr.2016.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01602"">H01602</a>","胃食道逆流症
 下位グループ    非びらん性胃食道逆流症 (NERD)
 逆流性食道炎 (ERD)","Gastroesophageal reflux disease (GERD) is a condition in which reflux of the stomach contents into the oesophagus results in symptoms or, occasionally, complications. GERD can be classified as non-erosive reflux disease (NERD) or erosive reflux disease (ERD) based on the presence or absence of esophageal mucosal damage seen on endoscopy. ERD can manifest in a wide range of symptoms which can be subdivided into typical, atypical, and extraesophageal symptoms. Typical symptoms include heartburn and acid regurgitation which have high specificity but low sensitivity for GERD. Atypical symptoms such as epigastric pain, dyspepsia, nausea, bloating, and belching may be suggestive of GERD but may overlap with other conditions in the differential diagnosis. Lastly, there are various extraesophageal symptoms including chronic cough, asthma, laryngitis, and dental erosions. In a small but important minority, complications of peptic esophagitis may occur including esophageal strictures, Barrett's oesophagus, and rarely esophageal adenocarcinoma. Hiatus hernia is statistically associated with GERD, the presence of which is relevant to surgical treatment. The diagnosis is typically made by a combination of clinical symptoms, response to acid suppression, as well as objective testing with upper endoscopy and esophageal pH monitoring. GERD is a chronic disease that typically requires long term management in the form of lifestyle modification, medical therapy and, for a subset of patients, surgical therapy. The mainstay of treatment is acid suppression which can be achieved with several classes of medications including antacids, histamine-receptor antagonists (H2RAs), or proton-pump inhibitors (PPIs).",,,,,,"シメチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00295"">D00295</a>]
 ラニチジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00673"">D00673</a>]
 ファモチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00318"">D00318</a>]
 ニザチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00440"">D00440</a>]
 ロキサチジン酢酸エステル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01467"">D01467</a>]
 ラフチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01131"">D01131</a>]
 オメプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00455"">D00455</a>]
 ランソプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00355"">D00355</a>]
 ラベプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00724"">D00724</a>]
 エソメプラゾールマグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01984"">D01984</a>]
 ボノプラザンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10466"">D10466</a>]
 アルギン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03336"">D03336</a>]
 カモスタットメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01766"">D01766</a>]",,"ICD-11: DA22
 ICD-10: K21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005764"">D005764</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21649454"">21649454</a>
 著者        Patrick L
 タイトル      Gastroesophageal reflux disease (GERD): a review of conventional and alternative treatments.
 雑誌        Altern Med Rev 16:116-33 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25133039"">25133039</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Badillo R, Francis D
 タイトル      Diagnosis and treatment of gastroesophageal reflux disease.
 雑誌        World J Gastrointest Pharmacol Ther 5:105-12 (2014)
 DOI:<a href=""https://doi.org/10.4292/wjgpt.v5.i3.105"">10.4292/wjgpt.v5.i3.105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27041798"">27041798</a>
 著者        Keung C, Hebbard G
 タイトル      The management of gastro-oesophageal reflux disease.
 雑誌        Aust Prescr 39:6-10 (2016)
 DOI:<a href=""https://doi.org/10.18773/austprescr.2016.003"">10.18773/austprescr.2016.003</a>"
H01603,"原発性アルドステロン症
 下位グループ    家族性高アルドステロン症 I 型 [DS:H00602]
 家族性高アルドステロン症 II 型
 家族性高アルドステロン症 III 型
 家族性高アルドステロン症 VI 型
 Primary aldosteronism with seizures and neurologic abnormalities (PASNA)",,,"Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between 5% and 13%, and it is now recognized to be the most common form of secondary hypertension. There are the seven subtypes of primary aldosteronism. Aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) are the most common subtypes of primary aldosteronism. Unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically and bilateral hyperplasia, medically.",内分泌代謝疾患,nt06316  Angiotensin-aldosterone signaling,"(HALD1) CYP11B1 [HSA:1584] [KO:K00497]
 (HALD3) KCNJ5 [HSA:3762] [KO:K04999]
 (HALD4) CACNA1H [HSA:8912] [KO:K04855]
 (PASNA) CACNA1D [HSA:776] [KO:K04851]
 ATP1A1 [HSA:476] [KO:K01539]
 ATP2B3 [HSA:492] [KO:K05850]",,,,"スピロノラクトン [DR:D00443]
 カンレノ酸カリウム [DR:D01943]
 トリロスタン [DR:D01180]",,"ICD-11: 5A72.0
 ICD-10: E26.0
 MeSH: D006929
 OMIM: 103900 613677 617027 615474","PMID:16932426
 著者        Mattsson C, Young WF Jr
 タイトル      Primary aldosteronism: diagnostic and treatment strategies.
 雑誌        Nat Clin Pract Nephrol 2:198-208; quiz, 1 p following 230 (2006)
 DOI:10.1038/ncpneph0151
 PMID:26445452
 著者        Korah HE, Scholl UI
 タイトル      An Update on Familial Hyperaldosteronism.
 雑誌        Horm Metab Res 47:941-6 (2015)
 DOI:10.1055/s-0035-1564166
 PMID:23913001
 著者        Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP
 タイトル      Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
 雑誌        Nat Genet 45:1050-4 (2013)
 DOI:10.1038/ng.2695
 PMID:24866132
 著者        Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M, Zennaro MC
 タイトル      Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
 雑誌        Hypertension 64:354-61 (2014)
 DOI:10.1161/HYPERTENSIONAHA.114.03419
 PMID:23229280
 著者        Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA
 タイトル      Role of KCNJ5 in familial and sporadic primary aldosteronism.
 雑誌        Nat Rev Endocrinol 9:104-12 (2013)
 DOI:10.1038/nrendo.2012.230
 PMID:25538205 (marker)
 著者        Piaditis G, Markou A, Papanastasiou L, Androulakis II, Kaltsas G
 タイトル      Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension.
 雑誌        Eur J Endocrinol 172:R191-203 (2015)
 DOI:10.1530/EJE-14-0537
 PMID:17018542 (drug)
 著者        Karagiannis A, Tziomalos K, Kakafika A, Florentin M, Athyros VG
 タイトル      Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism.
 雑誌        Nephrol Dial Transplant 22:293 (2007)
 DOI:10.1093/ndt/gfl500
 PMID:25907736
 著者        Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
 タイトル      Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
 雑誌        Elife 4:e06315 (2015)
 DOI:10.7554/eLife.06315","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01603"">H01603</a>","原発性アルドステロン症
 下位グループ    家族性高アルドステロン症 I 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00602"">H00602</a>]
 家族性高アルドステロン症 II 型
 家族性高アルドステロン症 III 型
 家族性高アルドステロン症 VI 型
 Primary aldosteronism with seizures and neurologic abnormalities (PASNA)","Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between 5% and 13%, and it is now recognized to be the most common form of secondary hypertension. There are the seven subtypes of primary aldosteronism. Aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) are the most common subtypes of primary aldosteronism. Unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically and bilateral hyperplasia, medically.","<a href=""https://www.kegg.jp/network/nt06316"">nt06316</a>  Angiotensin-aldosterone signaling","(HALD1) CYP11B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1584"">1584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00497"">K00497</a>]
 (HALD3) KCNJ5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3762"">3762</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04999"">K04999</a>]
 (HALD4) CACNA1H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8912"">8912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04855"">K04855</a>]
 (PASNA) CACNA1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:776"">776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04851"">K04851</a>]
 ATP1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:476"">476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]
 ATP2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:492"">492</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05850"">K05850</a>]",,,,"スピロノラクトン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00443"">D00443</a>]
 カンレノ酸カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01943"">D01943</a>]
 トリロスタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01180"">D01180</a>]",,"ICD-11: 5A72.0
 ICD-10: E26.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006929"">D006929</a>
 OMIM: <a href=""https://www.omim.org/entry/103900"">103900</a> <a href=""https://www.omim.org/entry/613677"">613677</a> <a href=""https://www.omim.org/entry/617027"">617027</a> <a href=""https://www.omim.org/entry/615474"">615474</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16932426"">16932426</a>
 著者        Mattsson C, Young WF Jr
 タイトル      Primary aldosteronism: diagnostic and treatment strategies.
 雑誌        Nat Clin Pract Nephrol 2:198-208; quiz, 1 p following 230 (2006)
 DOI:<a href=""https://doi.org/10.1038/ncpneph0151"">10.1038/ncpneph0151</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26445452"">26445452</a>
 著者        Korah HE, Scholl UI
 タイトル      An Update on Familial Hyperaldosteronism.
 雑誌        Horm Metab Res 47:941-6 (2015)
 DOI:<a href=""https://doi.org/10.1055/s-0035-1564166"">10.1055/s-0035-1564166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23913001"">23913001</a>
 著者        Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP
 タイトル      Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
 雑誌        Nat Genet 45:1050-4 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2695"">10.1038/ng.2695</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24866132"">24866132</a>
 著者        Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M, Zennaro MC
 タイトル      Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
 雑誌        Hypertension 64:354-61 (2014)
 DOI:<a href=""https://doi.org/10.1161/HYPERTENSIONAHA.114.03419"">10.1161/HYPERTENSIONAHA.114.03419</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23229280"">23229280</a>
 著者        Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA
 タイトル      Role of KCNJ5 in familial and sporadic primary aldosteronism.
 雑誌        Nat Rev Endocrinol 9:104-12 (2013)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2012.230"">10.1038/nrendo.2012.230</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25538205"">25538205</a> (marker)
 著者        Piaditis G, Markou A, Papanastasiou L, Androulakis II, Kaltsas G
 タイトル      Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension.
 雑誌        Eur J Endocrinol 172:R191-203 (2015)
 DOI:<a href=""https://doi.org/10.1530/EJE-14-0537"">10.1530/EJE-14-0537</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17018542"">17018542</a> (drug)
 著者        Karagiannis A, Tziomalos K, Kakafika A, Florentin M, Athyros VG
 タイトル      Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism.
 雑誌        Nephrol Dial Transplant 22:293 (2007)
 DOI:<a href=""https://doi.org/10.1093/ndt/gfl500"">10.1093/ndt/gfl500</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25907736"">25907736</a>
 著者        Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
 タイトル      Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
 雑誌        Elife 4:e06315 (2015)
 DOI:<a href=""https://doi.org/10.7554/eLife.06315"">10.7554/eLife.06315</a>"
H01604,皮膚筋炎/多発性筋炎,,,"Polymyositis (PM) and dermatomyositis (DM) are the two major forms of inflammatory muscle diseases. PM and DM, along with sporadic inclusion-body myositis (sIBM), belong to the heterogeneous group of the idiopathic inflammatory myopathies (IIMs), which are characterized by weakness and chronic inflammation of skeletal muscle. PM and DM differ in their clinical features, histopathology, response to treatment, and prognosis. Although their clinical pictures differ, they both present with symmetrical, proximal muscle weakness. PM is a term that was used traditionally to denote all IIMs that were not DM or sIBM, but it is now a controversial entity with questionable specificity. Traditionally, PM is described as presenting with weakness of the proximal muscles that evolves over weeks to months and affects adults, but rarely children. DM typically includes subacute progressive proximal muscle weakness and a skin rash. The disease mechanisms of PM and DM that cause muscle damage and dysfunction are not fully understood. However, because of the association with other autoimmune diseases, the presence of autoantibodies, and response to immunosuppressive medication, they are believed to be autoimmune in origin. Recent studies have highlighted the importance of the innate immune system and non-immune mechanisms and described novel adaptive immune-based pathways in the pathogenesis of PM and DM. Treatment of inflammatory myopathies is generally empirical. Corticosteroids still remain the agents of choice for the initial treatment, but their use is limited by the high frequency of side effects. In addition, as a substantial number of patients do not respond to glucocorticoids alone, additional agents such as immunosuppressants, immunomodulators, and more recently, biologics are commonly used in clinical practice.",筋骨格疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 タクロリムス水和物 [DR:D00107]
 ヒドロコルチゾン [DR:D00088]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]","Autoantigen:
 HARS [HSA:3035] [KO:K01892]
 TARS [HSA:6897] [KO:K01868]
 AARS [HSA:16] [KO:K01872]
 GARS [HSA:2617] [KO:K01880]
 IARS [HSA:3376] [KO:K01870]
 NARS [HSA:4677] [KO:K01893]
 FARSA [HSA:2193] [KO:K01889]
 FARSB [HSA:10056] [KO:K01890]
 IFIH1 [HSA:64135] [KO:K12647]
 TRIM33 [HSA:51592] [KO:K08883]
 MORC3 [HSA:23515]
 SAE1 [HSA:10055] [KO:K10684]
 SAE2 [HSA:10054] [KO:K10685]","ICD-11: 4A41.0 4A41.1
 ICD-10: M33
 MeSH: D017285 D003882","PMID:26299472
 著者        Vermaak E, Tansley SL, McHugh NJ
 タイトル      The evidence for immunotherapy in dermatomyositis and polymyositis: a systematic review.
 雑誌        Clin Rheumatol 34:2089-95 (2015)
 DOI:10.1007/s10067-015-3059-y
 PMID:26175404
 著者        Lahouti AH, Christopher-Stine L
 タイトル      Polymyositis and dermatomyositis: novel insights into the pathogenesis and potential therapeutic targets.
 雑誌        Discov Med 19:463-70 (2015)
 PMID:23758833 (autoantigen, description)
 著者        Rayavarapu S, Coley W, Kinder TB, Nagaraju K
 タイトル      Idiopathic inflammatory myopathies: pathogenic mechanisms of muscle weakness.
 雑誌        Skelet Muscle 3:13 (2013)
 DOI:10.1186/2044-5040-3-13
 PMID:25641317
 著者        Findlay AR, Goyal NA, Mozaffar T
 タイトル      An overview of polymyositis and dermatomyositis.
 雑誌        Muscle Nerve 51:638-56 (2015)
 DOI:10.1002/mus.24566","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01604"">H01604</a>",皮膚筋炎/多発性筋炎,"Polymyositis (PM) and dermatomyositis (DM) are the two major forms of inflammatory muscle diseases. PM and DM, along with sporadic inclusion-body myositis (sIBM), belong to the heterogeneous group of the idiopathic inflammatory myopathies (IIMs), which are characterized by weakness and chronic inflammation of skeletal muscle. PM and DM differ in their clinical features, histopathology, response to treatment, and prognosis. Although their clinical pictures differ, they both present with symmetrical, proximal muscle weakness. PM is a term that was used traditionally to denote all IIMs that were not DM or sIBM, but it is now a controversial entity with questionable specificity. Traditionally, PM is described as presenting with weakness of the proximal muscles that evolves over weeks to months and affects adults, but rarely children. DM typically includes subacute progressive proximal muscle weakness and a skin rash. The disease mechanisms of PM and DM that cause muscle damage and dysfunction are not fully understood. However, because of the association with other autoimmune diseases, the presence of autoantibodies, and response to immunosuppressive medication, they are believed to be autoimmune in origin. Recent studies have highlighted the importance of the innate immune system and non-immune mechanisms and described novel adaptive immune-based pathways in the pathogenesis of PM and DM. Treatment of inflammatory myopathies is generally empirical. Corticosteroids still remain the agents of choice for the initial treatment, but their use is limited by the high frequency of side effects. In addition, as a substantial number of patients do not respond to glucocorticoids alone, additional agents such as immunosuppressants, immunomodulators, and more recently, biologics are commonly used in clinical practice.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 タクロリムス水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00107"">D00107</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]","Autoantigen:
 HARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3035"">3035</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01892"">K01892</a>]
 TARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6897"">6897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01868"">K01868</a>]
 AARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:16"">16</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]
 GARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2617"">2617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01880"">K01880</a>]
 IARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3376"">3376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01870"">K01870</a>]
 NARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4677"">4677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01893"">K01893</a>]
 FARSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2193"">2193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01889"">K01889</a>]
 FARSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10056"">10056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01890"">K01890</a>]
 IFIH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64135"">64135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12647"">K12647</a>]
 TRIM33 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51592"">51592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08883"">K08883</a>]
 MORC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23515"">23515</a>]
 SAE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10055"">10055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10684"">K10684</a>]
 SAE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10054"">10054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10685"">K10685</a>]","ICD-11: 4A41.0 4A41.1
 ICD-10: M33
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017285"">D017285</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003882"">D003882</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26299472"">26299472</a>
 著者        Vermaak E, Tansley SL, McHugh NJ
 タイトル      The evidence for immunotherapy in dermatomyositis and polymyositis: a systematic review.
 雑誌        Clin Rheumatol 34:2089-95 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10067-015-3059-y"">10.1007/s10067-015-3059-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26175404"">26175404</a>
 著者        Lahouti AH, Christopher-Stine L
 タイトル      Polymyositis and dermatomyositis: novel insights into the pathogenesis and potential therapeutic targets.
 雑誌        Discov Med 19:463-70 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23758833"">23758833</a> (autoantigen, <a href=""https://pubmed.ncbi.nlm.nih.gov/description)"">description)</a>
 著者        Rayavarapu S, Coley W, Kinder TB, Nagaraju K
 タイトル      Idiopathic inflammatory myopathies: pathogenic mechanisms of muscle weakness.
 雑誌        Skelet Muscle 3:13 (2013)
 DOI:<a href=""https://doi.org/10.1186/2044-5040-3-13"">10.1186/2044-5040-3-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25641317"">25641317</a>
 著者        Findlay AR, Goyal NA, Mozaffar T
 タイトル      An overview of polymyositis and dermatomyositis.
 雑誌        Muscle Nerve 51:638-56 (2015)
 DOI:<a href=""https://doi.org/10.1002/mus.24566"">10.1002/mus.24566</a>"
H01605,骨髄線維症,,,"Myelofibrosis (MF), one of the three classic Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), is characterized by symptoms mainly derived from anemia and splenomegaly and constitutional symptoms and associated with a median survival around 6 years. Most MPN patients harbor an acquired mutation in the hemopoietic cells, the V617F mutation, located in the pseudokinase domain of the JAK2 gene. This mutation results in a gain of function, i.e., in the constitutive activation of the JAK-STAT pathway, which plays an important role in the proliferation, differentiation, and survival of the hemopoietic cells, as well as in the immune function. Besides, a minority of patients with MF (most of them negative for the JAK2 mutation) harbor other JAK-STAT-activating mutation, the MPL mutation, in the gene of the receptor of the thrombopoietin. Recently, mutations in the CALR gene have been described in 86% of cases with primary MF that are negative for JAK2 or MPL mutations. CALR mutation also showed cytokine independent growth of cells due to activation of STAT5 involved with the JAK-STAT pathway but its exact role in MPN remains to be clarified.",がん,,"MPL [HSA:4352] [KO:K05082]
 JAK2 [HSA:3717] [KO:K04447]
 CALR [HSA:811] [KO:K08057]
 SH2B3 [HSA:10019] [KO:K12459]",,,,"テストステロンエナント酸エステル [DR:D00958]
 ルキソリチニブリン酸塩 [DR:D09960]",ICD-0-3: 9961/3 Primary myelofibrosis,"ICD-11: 2A20.2
 ICD-10: D47.4
 MeSH: D055728
 OMIM: 254450","PMID:25635755
 著者        Hobbs GS, Rampal RK
 タイトル      Clinical and molecular genetic characterization of myelofibrosis.
 雑誌        Curr Opin Hematol 22:177-83 (2015)
 DOI:10.1097/MOH.0000000000000122
 PMID:23514013
 著者        Cervantes F, Martinez-Trillos A
 タイトル      Myelofibrosis: an update on current pharmacotherapy and future directions.
 雑誌        Expert Opin Pharmacother 14:873-84 (2013)
 DOI:10.1517/14656566.2013.783019
 PMID:26835366
 著者        Singh NR
 タイトル      Genomic diversity in myeloproliferative neoplasms: focus on myelofibrosis.
 雑誌        Transl Pediatr 4:107-15 (2015)
 DOI:10.3978/j.issn.2224-4336.2015.03.06
 PMID:17107350 (MPL, JAK2)
 著者        Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG, Tefferi A
 タイトル      Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time.
 雑誌        Br J Haematol 135:683-7 (2006)
 DOI:10.1111/j.1365-2141.2006.06348.x
 PMID:24325356 (CALR)
 著者        Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schonegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
 タイトル      Somatic mutations of calreticulin in myeloproliferative neoplasms.
 雑誌        N Engl J Med 369:2379-90 (2013)
 DOI:10.1056/NEJMoa1311347
 PMID:20404132 (SH2B3)
 著者        Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J
 タイトル      Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.
 雑誌        Blood 116:988-92 (2010)
 DOI:10.1182/blood-2010-02-270108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01605"">H01605</a>",骨髄線維症,"Myelofibrosis (MF), one of the three classic Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), is characterized by symptoms mainly derived from anemia and splenomegaly and constitutional symptoms and associated with a median survival around 6 years. Most MPN patients harbor an acquired mutation in the hemopoietic cells, the V617F mutation, located in the pseudokinase domain of the JAK2 gene. This mutation results in a gain of function, i.e., in the constitutive activation of the JAK-STAT pathway, which plays an important role in the proliferation, differentiation, and survival of the hemopoietic cells, as well as in the immune function. Besides, a minority of patients with MF (most of them negative for the JAK2 mutation) harbor other JAK-STAT-activating mutation, the MPL mutation, in the gene of the receptor of the thrombopoietin. Recently, mutations in the CALR gene have been described in 86% of cases with primary MF that are negative for JAK2 or MPL mutations. CALR mutation also showed cytokine independent growth of cells due to activation of STAT5 involved with the JAK-STAT pathway but its exact role in MPN remains to be clarified.",,"MPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4352"">4352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05082"">K05082</a>]
 JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 CALR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:811"">811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08057"">K08057</a>]
 SH2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10019"">10019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12459"">K12459</a>]",,,,"テストステロンエナント酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00958"">D00958</a>]
 ルキソリチニブリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09960"">D09960</a>]",ICD-0-3: 9961/3 Primary myelofibrosis,"ICD-11: 2A20.2
 ICD-10: D47.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055728"">D055728</a>
 OMIM: <a href=""https://www.omim.org/entry/254450"">254450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25635755"">25635755</a>
 著者        Hobbs GS, Rampal RK
 タイトル      Clinical and molecular genetic characterization of myelofibrosis.
 雑誌        Curr Opin Hematol 22:177-83 (2015)
 DOI:<a href=""https://doi.org/10.1097/MOH.0000000000000122"">10.1097/MOH.0000000000000122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23514013"">23514013</a>
 著者        Cervantes F, Martinez-Trillos A
 タイトル      Myelofibrosis: an update on current pharmacotherapy and future directions.
 雑誌        Expert Opin Pharmacother 14:873-84 (2013)
 DOI:<a href=""https://doi.org/10.1517/14656566.2013.783019"">10.1517/14656566.2013.783019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26835366"">26835366</a>
 著者        Singh NR
 タイトル      Genomic diversity in myeloproliferative neoplasms: focus on myelofibrosis.
 雑誌        Transl Pediatr 4:107-15 (2015)
 DOI:<a href=""https://doi.org/10.3978/j.issn.2224-4336.2015.03.06"">10.3978/j.issn.2224-4336.2015.03.06</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17107350"">17107350</a> (MPL, <a href=""https://pubmed.ncbi.nlm.nih.gov/JAK2)"">JAK2)</a>
 著者        Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG, Tefferi A
 タイトル      Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time.
 雑誌        Br J Haematol 135:683-7 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2006.06348.x"">10.1111/j.1365-2141.2006.06348.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24325356"">24325356</a> (CALR)
 著者        Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schonegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
 タイトル      Somatic mutations of calreticulin in myeloproliferative neoplasms.
 雑誌        N Engl J Med 369:2379-90 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1311347"">10.1056/NEJMoa1311347</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20404132"">20404132</a> (SH2B3)
 著者        Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J
 タイトル      Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.
 雑誌        Blood 116:988-92 (2010)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-02-270108"">10.1182/blood-2010-02-270108</a>"
H01606,リウマチ性多発筋痛症,,,"Polymyalgia rheumatica (PMR) is a relatively common inflammatory rheumatic disease in people older than 50 years of age. PMR is a clinical condition defined as the presence of inflammatory pain in the limb girdles. Range of motion is decreased at the shoulder and pelvic girdles, and the neck and hip girdle may also be involved. These symptoms often persist for at least 1 month and are combined with incapacitating morning stiffness, a decline in general health, and an elevated acute-phase response. Onset of PMR symptoms may be acute or gradual. It is known that PMR patients share many pathogenetic features with giant cell arteritis (GCA). Despite the similarities in age of onset and some of the clinical manifestations, the relationship between GCA and PMR is not yet clearly established. One-third of PMR patients have systemic manifestations such as low-grade fever, malaise, and anorexia, but these are often milder than systemic symptoms in GCA patients. PMR is a benign and highly steroid-sensitive disease that should resolve fully with low-dose glucocorticoid therapy for 12-24 months, although one or two relapses may occur. The diagnosis of PMR is made primarily on clinical grounds and is bolstered by laboratory evidence of an acute-phase reaction. There is no single diagnostic test for PMR, but sets of diagnostic and classification criteria have been suggested by several groups of investigators.",筋骨格疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]",,"ICD-11: FA22
 ICD-10: M35.3
 MeSH: D011111","PMID:24897986
 著者        Ameer F, McNeil J
 タイトル      Polymyalgia rheumatica: clinical update.
 雑誌        Aust Fam Physician 43:373-6 (2014)
 PMID:24462129
 著者        De Bandt M
 タイトル      Current diagnosis and treatment of polymyalgia rheumatica.
 雑誌        Joint Bone Spine 81:203-8 (2014)
 DOI:10.1016/j.jbspin.2013.12.010
 PMID:24461540
 著者        Nesher G
 タイトル      Polymyalgia rheumatica--diagnosis and classification.
 雑誌        J Autoimmun 48-49:76-8 (2014)
 DOI:10.1016/j.jaut.2014.01.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01606"">H01606</a>",リウマチ性多発筋痛症,"Polymyalgia rheumatica (PMR) is a relatively common inflammatory rheumatic disease in people older than 50 years of age. PMR is a clinical condition defined as the presence of inflammatory pain in the limb girdles. Range of motion is decreased at the shoulder and pelvic girdles, and the neck and hip girdle may also be involved. These symptoms often persist for at least 1 month and are combined with incapacitating morning stiffness, a decline in general health, and an elevated acute-phase response. Onset of PMR symptoms may be acute or gradual. It is known that PMR patients share many pathogenetic features with giant cell arteritis (GCA). Despite the similarities in age of onset and some of the clinical manifestations, the relationship between GCA and PMR is not yet clearly established. One-third of PMR patients have systemic manifestations such as low-grade fever, malaise, and anorexia, but these are often milder than systemic symptoms in GCA patients. PMR is a benign and highly steroid-sensitive disease that should resolve fully with low-dose glucocorticoid therapy for 12-24 months, although one or two relapses may occur. The diagnosis of PMR is made primarily on clinical grounds and is bolstered by laboratory evidence of an acute-phase reaction. There is no single diagnostic test for PMR, but sets of diagnostic and classification criteria have been suggested by several groups of investigators.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]",,"ICD-11: FA22
 ICD-10: M35.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011111"">D011111</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24897986"">24897986</a>
 著者        Ameer F, McNeil J
 タイトル      Polymyalgia rheumatica: clinical update.
 雑誌        Aust Fam Physician 43:373-6 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24462129"">24462129</a>
 著者        De Bandt M
 タイトル      Current diagnosis and treatment of polymyalgia rheumatica.
 雑誌        Joint Bone Spine 81:203-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2013.12.010"">10.1016/j.jbspin.2013.12.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24461540"">24461540</a>
 著者        Nesher G
 タイトル      Polymyalgia rheumatica--diagnosis and classification.
 雑誌        J Autoimmun 48-49:76-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2014.01.016"">10.1016/j.jaut.2014.01.016</a>"
H01607,乳汁漏出症,,,"Galactorrhea is a discharge of milk or a milk-like secretion from the breast in the absence of parturition or beyond six months' post-partum in a nonbreastfeeding woman. The condition is more common in women who are 20 to 35 years of age and in previously parous women. It is less common in children and nulligravid women. Galactorrhea also can occur in men. After infancy, galactorrhea usually is medication-induced. The most common pathologic cause of galactorrhea is a pituitary tumor. Other causes include hypothalamic and pituitary stalk lesions, neurogenic stimulation, thyroid disorders, and chronic renal failure. Tests for pregnancy, serum prolactin level and serum thyroid-stimulating hormone level, and magnetic resonance imaging are important diagnostic tools that should be employed when clinically indicated. The decision to treat patients with galactorrhea is based on the serum prolactin level, the severity of galactorrhea, and the patient's fertility desires. Dopamine agonists are the treatment of choice in most patients with hyperprolactinemic disorders. Medications causing hyperprolactinemia should be discontinued or replaced with a medication from a similar class with lower potential for causing hyperprolactinemia. For women who cannot breastfeed after childbirth for some reasons, various pharmacologic and nonpharmacologic interventions have been used to suppress lactation and relieve associated symptoms. Pharmacological options mainly involve dopamine agonist medications.",生殖系疾患,,,,,,"ブロモクリプチンメシル酸塩 [DR:D00780]
 カベルゴリン [DR:D00987]",See also H01388.,"ICD-11: JB46.6
 ICD-10: O92.5 O92.6 N64.3
 MeSH: D005687","PMID:22962879 (description, drug)
 著者        Huang W, Molitch ME
 タイトル      Evaluation and management of galactorrhea.
 雑誌        Am Fam Physician 85:1073-80 (2012)
 PMID:15317441
 著者        Leung AK, Pacaud D
 タイトル      Diagnosis and management of galactorrhea.
 雑誌        Am Fam Physician 70:543-50 (2004)
 PMID:11352287
 著者        Pena KS, Rosenfeld JA
 タイトル      Evaluation and treatment of galactorrhea.
 雑誌        Am Fam Physician 63:1763-70 (2001)
 PMID:27297803 (drug)
 著者        Snellen M, Power J, Blankley G, Galbally M
 タイトル      Pharmacological lactation suppression with D2 receptor agonists and risk of postpartum psychosis: A systematic review.
 雑誌        Aust N Z J Obstet Gynaecol 56:336-40 (2016)
 DOI:10.1111/ajo.12479","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01607"">H01607</a>",乳汁漏出症,"Galactorrhea is a discharge of milk or a milk-like secretion from the breast in the absence of parturition or beyond six months' post-partum in a nonbreastfeeding woman. The condition is more common in women who are 20 to 35 years of age and in previously parous women. It is less common in children and nulligravid women. Galactorrhea also can occur in men. After infancy, galactorrhea usually is medication-induced. The most common pathologic cause of galactorrhea is a pituitary tumor. Other causes include hypothalamic and pituitary stalk lesions, neurogenic stimulation, thyroid disorders, and chronic renal failure. Tests for pregnancy, serum prolactin level and serum thyroid-stimulating hormone level, and magnetic resonance imaging are important diagnostic tools that should be employed when clinically indicated. The decision to treat patients with galactorrhea is based on the serum prolactin level, the severity of galactorrhea, and the patient's fertility desires. Dopamine agonists are the treatment of choice in most patients with hyperprolactinemic disorders. Medications causing hyperprolactinemia should be discontinued or replaced with a medication from a similar class with lower potential for causing hyperprolactinemia. For women who cannot breastfeed after childbirth for some reasons, various pharmacologic and nonpharmacologic interventions have been used to suppress lactation and relieve associated symptoms. Pharmacological options mainly involve dopamine agonist medications.",,,,,,"ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 カベルゴリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00987"">D00987</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01388."">H01388.</a>","ICD-11: JB46.6
 ICD-10: O92.5 O92.6 N64.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005687"">D005687</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22962879"">22962879</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Huang W, Molitch ME
 タイトル      Evaluation and management of galactorrhea.
 雑誌        Am Fam Physician 85:1073-80 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15317441"">15317441</a>
 著者        Leung AK, Pacaud D
 タイトル      Diagnosis and management of galactorrhea.
 雑誌        Am Fam Physician 70:543-50 (2004)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11352287"">11352287</a>
 著者        Pena KS, Rosenfeld JA
 タイトル      Evaluation and treatment of galactorrhea.
 雑誌        Am Fam Physician 63:1763-70 (2001)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27297803"">27297803</a> (drug)
 著者        Snellen M, Power J, Blankley G, Galbally M
 タイトル      Pharmacological lactation suppression with D2 receptor agonists and risk of postpartum psychosis: A systematic review.
 雑誌        Aust N Z J Obstet Gynaecol 56:336-40 (2016)
 DOI:<a href=""https://doi.org/10.1111/ajo.12479"">10.1111/ajo.12479</a>"
H01608,痙性斜頸,,,"Cervical dystonia (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which frequently result in abnormal movements or postures. CD is considered a form of primary adult-onset focal dystonia. The majority of patients complain of pain, which is not a common feature of other focal dystonias. Head rotation is common, but head tilt, neck extension, and flexion may also occur, often in combination. The pathogenesis of primary CD is unclear. Patients with secondary CD may have an abnormal birth or developmental history, exposure to drugs known to cause dystonia (tardive dystonia), or neurological illness. Intramuscular injections of botulinum toxin (BoNT), have been shown to be efficacious and well tolerated when used to treat CD, and are therefore recommended as first-line therapy by current treatment guidelines.",神経系疾患,,,,,,"A型ボツリヌス毒素 [DR:D00783]
 B型ボツリヌス毒素 [DR:D02735]",,"ICD-11: 8A02.0Y
 ICD-10: G24.3
 MeSH: D014103","PMID:26914922 (description, drug)
 著者        Han Y, Stevens AL, Dashtipour K, Hauser RA, Mari Z
 タイトル      A mixed treatment comparison to compare the efficacy and safety of botulinum toxin treatments for cervical dystonia.
 雑誌        J Neurol 263:772-80 (2016)
 DOI:10.1007/s00415-016-8050-2
 PMID:24413637 (description, drug)
 著者        De Pauw J, Van der Velden K, Meirte J, Van Daele U, Truijen S, Cras P, Mercelis R, De Hertogh W
 タイトル      The effectiveness of physiotherapy for cervical dystonia: a systematic literature review.
 雑誌        J Neurol 261:1857-65 (2014)
 DOI:10.1007/s00415-013-7220-8
 PMID:17878433 (description, drug)
 著者        Crowner BE
 タイトル      Cervical dystonia: disease profile and clinical management.
 雑誌        Phys Ther 87:1511-26 (2007)
 DOI:10.2522/ptj.20060272","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01608"">H01608</a>",痙性斜頸,"Cervical dystonia (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which frequently result in abnormal movements or postures. CD is considered a form of primary adult-onset focal dystonia. The majority of patients complain of pain, which is not a common feature of other focal dystonias. Head rotation is common, but head tilt, neck extension, and flexion may also occur, often in combination. The pathogenesis of primary CD is unclear. Patients with secondary CD may have an abnormal birth or developmental history, exposure to drugs known to cause dystonia (tardive dystonia), or neurological illness. Intramuscular injections of botulinum toxin (BoNT), have been shown to be efficacious and well tolerated when used to treat CD, and are therefore recommended as first-line therapy by current treatment guidelines.",,,,,,"A型ボツリヌス毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00783"">D00783</a>]
 B型ボツリヌス毒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02735"">D02735</a>]",,"ICD-11: 8A02.0Y
 ICD-10: G24.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014103"">D014103</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26914922"">26914922</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Han Y, Stevens AL, Dashtipour K, Hauser RA, Mari Z
 タイトル      A mixed treatment comparison to compare the efficacy and safety of botulinum toxin treatments for cervical dystonia.
 雑誌        J Neurol 263:772-80 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00415-016-8050-2"">10.1007/s00415-016-8050-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24413637"">24413637</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        De Pauw J, Van der Velden K, Meirte J, Van Daele U, Truijen S, Cras P, Mercelis R, De Hertogh W
 タイトル      The effectiveness of physiotherapy for cervical dystonia: a systematic literature review.
 雑誌        J Neurol 261:1857-65 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00415-013-7220-8"">10.1007/s00415-013-7220-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17878433"">17878433</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Crowner BE
 タイトル      Cervical dystonia: disease profile and clinical management.
 雑誌        Phys Ther 87:1511-26 (2007)
 DOI:<a href=""https://doi.org/10.2522/ptj.20060272"">10.2522/ptj.20060272</a>"
H01609,不眠症,,,"Insomnia is a common disorder with a prevalence of about 10% in the general population. The most common complaints related to insomnia are difficulty initiating sleep (sleep-onset insomnia), difficulty maintaining sleep due to prolonged nocturnal awakenings (sleep-maintenance insomnia), early morning awakenings, and excessive daytime sleepiness resulting from lack of sleep. Furthermore, insomnia is associated with an increased risk of anxiety and depression, suicidality, and cardiovascular diseases. Currently, cognitive behavioral therapy for insomnia (CBT-I) is recommended as first-line therapy. While behavioral therapies are effective for chronic insomnia in some patients, pharmacotherapy is frequently used when immediate short-term symptom relief is needed. The most effective pharmacologic therapies for insomnia are benzodiazepines, benzodiazepine-receptor agonists, melatonin-receptor agonists, and antidepressants.",神経系障害,,,,,,"ブロモバレリル尿素 [DR:D01391]
 トリクロホスナトリウム [DR:D00388]
 フルラゼパム塩酸塩 [DR:D01408]
 ニトラゼパム [DR:D00531]
 フルニトラゼパム [DR:D01230]
 エスタゾラム [DR:D00311]
 トリアゾラム [DR:D00387]
 ロルメタゼパム [DR:D01657]
 ブロチゾラム [DR:D01744]
 クアゼパム [DR:D00457]
 ハロキサゾラム [DR:D01758]
 フェノバルビタール [DR:D00506]
 ペントバルビタールカルシウム [DR:D02253]
 アモバルビタール [DR:D00555]
 セコバルビタールナトリウム [DR:D01310]
 ゾピクロン [DR:D01372]
 ゾルピデム酒石酸塩 [DR:D00706]
 エスゾピクロン [DR:D02624]
 リルマザホン塩酸塩水和物 [DR:D01564]
 ラメルテオン [DR:D02689]
 スボレキサント [DR:D10082]
 レンボレキサント [DR:D11022]
 ブドウ酒 [DR:D04961]
 温経湯 [DR:D06919]
 黄連解毒湯エキス [DR:D06924]
 加味帰脾湯エキス [DR:D06929]
 甘麦大棗湯 [DR:D06931]
 帰脾湯 [DR:D06934]
 桂枝加竜骨牡蛎湯 [DR:D06945]
 柴胡加竜骨牡蛎湯 [DR:D06962]
 柴胡桂枝乾姜湯 [DR:D06963]
 三黄瀉心湯 [DR:D06967]
 酸棗仁湯 [DR:D06968]
 大柴胡湯エキス [DR:D07004]
 大柴胡湯去大黄 [DR:D07005]
 人参養栄湯 [DR:D07028]
 半夏厚朴湯エキス [DR:D07032]
 抑肝散エキス [DR:D07049]
 抑肝散加陳皮半夏 [DR:D07050]",,"ICD-11: 7A00 7A01
 ICD-10: F51.0 G47.0
 MeSH: D007319","PMID:26414893
 著者        Lancee J, van Straten A, Morina N, Kaldo V, Kamphuis JH
 タイトル      Guided Online or Face-to-Face Cognitive Behavioral Treatment for Insomnia: A Randomized Wait-List Controlled Trial.
 雑誌        Sleep 39:183-91 (2016)
 DOI:10.5665/sleep.5344
 PMID:27198954
 著者        Palagini L, Faraguna U, Mauri M, Gronchi A, Morin CM, Riemann D
 タイトル      Association between stress-related sleep reactivity and cognitive processes in insomnia disorder and insomnia subgroups: preliminary results.
 雑誌        Sleep Med 19:101-7 (2016)
 DOI:10.1016/j.sleep.2015.10.020
 PMID:16750462 (drug)
 著者        Najib J
 タイトル      Eszopiclone, a nonbenzodiazepine sedative-hypnotic agent for the treatment of transient and chronic insomnia.
 雑誌        Clin Ther 28:491-516 (2006)
 DOI:10.1016/j.clinthera.2006.04.014
 PMID:27253658 (drug)
 著者        Schoedel KA, Sun H, Sellers EM, Faulknor J, Levy-Cooperman N, Li X, Kennedy WP, Cha JH, Lewis NM, Liu W, Bondiskey P, McCrea JB, Panebianco DL, Troyer MD, Wagner JA
 タイトル      Assessment of the Abuse Potential of the Orexin Receptor Antagonist, Suvorexant, Compared With Zolpidem in a Randomized Crossover Study.
 雑誌        J Clin Psychopharmacol 36:314-23 (2016)
 DOI:10.1097/JCP.0000000000000516
 PMID:26438969 (drug)
 著者        Cardinali DP, Golombek DA, Rosenstein RE, Brusco LI, Vigo DE
 タイトル      Assessing the efficacy of melatonin to curtail benzodiazepine/Z drug abuse.
 雑誌        Pharmacol Res 109:12-23 (2016)
 DOI:10.1016/j.phrs.2015.08.016
 PMID:18463341 (drug)
 著者        Passarella S, Duong MT
 タイトル      Diagnosis and treatment of insomnia.
 雑誌        Am J Health Syst Pharm 65:927-34 (2008)
 DOI:10.2146/ajhp060640
 PMID:26940892 (drug)
 著者        Morin CM, Edinger JD, Krystal AD, Buysse DJ, Beaulieu-Bonneau S, Ivers H
 タイトル      Sequential psychological and pharmacological therapies for comorbid and primary insomnia: study protocol for a randomized controlled trial.
 雑誌        Trials 17:118 (2016)
 DOI:10.1186/s13063-016-1242-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01609"">H01609</a>",不眠症,"Insomnia is a common disorder with a prevalence of about 10% in the general population. The most common complaints related to insomnia are difficulty initiating sleep (sleep-onset insomnia), difficulty maintaining sleep due to prolonged nocturnal awakenings (sleep-maintenance insomnia), early morning awakenings, and excessive daytime sleepiness resulting from lack of sleep. Furthermore, insomnia is associated with an increased risk of anxiety and depression, suicidality, and cardiovascular diseases. Currently, cognitive behavioral therapy for insomnia (CBT-I) is recommended as first-line therapy. While behavioral therapies are effective for chronic insomnia in some patients, pharmacotherapy is frequently used when immediate short-term symptom relief is needed. The most effective pharmacologic therapies for insomnia are benzodiazepines, benzodiazepine-receptor agonists, melatonin-receptor agonists, and antidepressants.",,,,,,"ブロモバレリル尿素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01391"">D01391</a>]
 トリクロホスナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00388"">D00388</a>]
 フルラゼパム塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01408"">D01408</a>]
 ニトラゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00531"">D00531</a>]
 フルニトラゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01230"">D01230</a>]
 エスタゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00311"">D00311</a>]
 トリアゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00387"">D00387</a>]
 ロルメタゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01657"">D01657</a>]
 ブロチゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01744"">D01744</a>]
 クアゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00457"">D00457</a>]
 ハロキサゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01758"">D01758</a>]
 フェノバルビタール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00506"">D00506</a>]
 ペントバルビタールカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02253"">D02253</a>]
 アモバルビタール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00555"">D00555</a>]
 セコバルビタールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01310"">D01310</a>]
 ゾピクロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01372"">D01372</a>]
 ゾルピデム酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00706"">D00706</a>]
 エスゾピクロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02624"">D02624</a>]
 リルマザホン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01564"">D01564</a>]
 ラメルテオン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02689"">D02689</a>]
 スボレキサント [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10082"">D10082</a>]
 レンボレキサント [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11022"">D11022</a>]
 ブドウ酒 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04961"">D04961</a>]
 温経湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06919"">D06919</a>]
 黄連解毒湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06924"">D06924</a>]
 加味帰脾湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06929"">D06929</a>]
 甘麦大棗湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06931"">D06931</a>]
 帰脾湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06934"">D06934</a>]
 桂枝加竜骨牡蛎湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06945"">D06945</a>]
 柴胡加竜骨牡蛎湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06962"">D06962</a>]
 柴胡桂枝乾姜湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06963"">D06963</a>]
 三黄瀉心湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06967"">D06967</a>]
 酸棗仁湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06968"">D06968</a>]
 大柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07004"">D07004</a>]
 大柴胡湯去大黄 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07005"">D07005</a>]
 人参養栄湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07028"">D07028</a>]
 半夏厚朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07032"">D07032</a>]
 抑肝散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07049"">D07049</a>]
 抑肝散加陳皮半夏 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07050"">D07050</a>]",,"ICD-11: 7A00 7A01
 ICD-10: F51.0 G47.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007319"">D007319</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26414893"">26414893</a>
 著者        Lancee J, van Straten A, Morina N, Kaldo V, Kamphuis JH
 タイトル      Guided Online or Face-to-Face Cognitive Behavioral Treatment for Insomnia: A Randomized Wait-List Controlled Trial.
 雑誌        Sleep 39:183-91 (2016)
 DOI:<a href=""https://doi.org/10.5665/sleep.5344"">10.5665/sleep.5344</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27198954"">27198954</a>
 著者        Palagini L, Faraguna U, Mauri M, Gronchi A, Morin CM, Riemann D
 タイトル      Association between stress-related sleep reactivity and cognitive processes in insomnia disorder and insomnia subgroups: preliminary results.
 雑誌        Sleep Med 19:101-7 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.sleep.2015.10.020"">10.1016/j.sleep.2015.10.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16750462"">16750462</a> (drug)
 著者        Najib J
 タイトル      Eszopiclone, a nonbenzodiazepine sedative-hypnotic agent for the treatment of transient and chronic insomnia.
 雑誌        Clin Ther 28:491-516 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.clinthera.2006.04.014"">10.1016/j.clinthera.2006.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27253658"">27253658</a> (drug)
 著者        Schoedel KA, Sun H, Sellers EM, Faulknor J, Levy-Cooperman N, Li X, Kennedy WP, Cha JH, Lewis NM, Liu W, Bondiskey P, McCrea JB, Panebianco DL, Troyer MD, Wagner JA
 タイトル      Assessment of the Abuse Potential of the Orexin Receptor Antagonist, Suvorexant, Compared With Zolpidem in a Randomized Crossover Study.
 雑誌        J Clin Psychopharmacol 36:314-23 (2016)
 DOI:<a href=""https://doi.org/10.1097/JCP.0000000000000516"">10.1097/JCP.0000000000000516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26438969"">26438969</a> (drug)
 著者        Cardinali DP, Golombek DA, Rosenstein RE, Brusco LI, Vigo DE
 タイトル      Assessing the efficacy of melatonin to curtail benzodiazepine/Z drug abuse.
 雑誌        Pharmacol Res 109:12-23 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.phrs.2015.08.016"">10.1016/j.phrs.2015.08.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18463341"">18463341</a> (drug)
 著者        Passarella S, Duong MT
 タイトル      Diagnosis and treatment of insomnia.
 雑誌        Am J Health Syst Pharm 65:927-34 (2008)
 DOI:<a href=""https://doi.org/10.2146/ajhp060640"">10.2146/ajhp060640</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26940892"">26940892</a> (drug)
 著者        Morin CM, Edinger JD, Krystal AD, Buysse DJ, Beaulieu-Bonneau S, Ivers H
 タイトル      Sequential psychological and pharmacological therapies for comorbid and primary insomnia: study protocol for a randomized controlled trial.
 雑誌        Trials 17:118 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13063-016-1242-3"">10.1186/s13063-016-1242-3</a>"
H01610,"肝吸虫症
 上位グループ    食物媒介吸虫類感染症 [DS:H01617]",,,"Clonorchiasis is an infectious disease of the biliary passages caused by Clonorchis sinensis of the family Opisthorchiidae. Clonorchis sinensis, the most common human liver fluke, is endemic in East Asia. The human and animal reservoir hosts acquire the infection from the ingestion of raw fish (the second intermediate hosts) containing infectious metacercariae.",感染症,,,Clonorchis sinensis,,,プラジカンテル [DR:D00471],"The first intermediate hosts: freshwater snails (predominantly of the genus Parafossarulus and Bithynia)
 The second intermediate hosts: freshwater fish (predominantly of the family Cyprinidae)","ICD-11: 1F80
 ICD-10: B66.1
 MeSH: D003003","PMID:16153321
 著者        Rim HJ
 タイトル      Clonorchiasis: an update.
 雑誌        J Helminthol 79:269-81 (2005)
 DOI:10.1079/JOH2005300","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01610"">H01610</a>","肝吸虫症
 上位グループ    食物媒介吸虫類感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01617"">H01617</a>]","Clonorchiasis is an infectious disease of the biliary passages caused by Clonorchis sinensis of the family Opisthorchiidae. Clonorchis sinensis, the most common human liver fluke, is endemic in East Asia. The human and animal reservoir hosts acquire the infection from the ingestion of raw fish (the second intermediate hosts) containing infectious metacercariae.",,,Clonorchis sinensis,,,"プラジカンテル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00471"">D00471</a>]","The first intermediate hosts: freshwater snails (predominantly of the genus Parafossarulus and Bithynia)
 The second intermediate hosts: freshwater fish (predominantly of the family Cyprinidae)","ICD-11: 1F80
 ICD-10: B66.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003003"">D003003</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16153321"">16153321</a>
 著者        Rim HJ
 タイトル      Clonorchiasis: an update.
 雑誌        J Helminthol 79:269-81 (2005)
 DOI:<a href=""https://doi.org/10.1079/JOH2005300"">10.1079/JOH2005300</a>"
H01611,アルコール依存症,,,"Alcohol dependence (AD) is a chronic but often disease that includes problems in controlling one's drinking, being preoccupied with alcohol, continuing to use alcohol even when it causes problems, having to drink more to get the same effect (physical dependence), or having withdrawal symptoms when one rapidly decreases or stops drinking. The contribution of genetic factors to the development of AD is high. The best classical candidate genes for AD are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Both genes are involved in enzymatic degradation of alcohol. Recent genome-wide association studies (GWAS) have reported that the most robust associations for AD have been with such enzyme genes, especially ALDH2 in East Asian populations and ADH1B in European American and African American populations.",精神及び行動の障害,,"ALDH2 (polymorphism) [HSA:217] [KO:K00128]
 ADH1B (polymorphism) [HSA:125] [KO:K13951]
 ADH1C (polymorphism) [HSA:126] [KO:K13951]
 OPRM1 (polymorphism) [HSA:4988] [KO:K04215]
 DRD2 (polymorphism) [HSA:1813] [KO:K04145]
 HTR2A (polymorphism) [HSA:3356] [KO:K04157]
 GABRA2 (polymorphism) [HSA:2555] [KO:K05175]
 TAS2R16 (polymorphism) [HSA:50833] [KO:K08474]",,,,"アカンプロサートカルシウム [DR:D02780]
 ナルメフェン塩酸塩水和物 [DR:D10812]
 シアナミド [DR:D00123]
 ジスルフィラム [DR:D00131]",,"ICD-11: 6C40.2
 ICD-10: F10.2 F10.5
 MeSH: D000437
 OMIM: 103780","PMID:25985735 (gene, drug)
 著者        Thompson A, Owens L, Pushpakom SP, Faizal M, Pirmohamed M
 タイトル      Pharmacotherapy for alcohol dependence: A stratified approach.
 雑誌        Pharmacol Ther 153:10-24 (2015)
 DOI:10.1016/j.pharmthera.2015.05.010
 PMID:23810221 (drug)
 著者        Franck J, Jayaram-Lindstrom N
 タイトル      Pharmacotherapy for alcohol dependence: status of current treatments.
 雑誌        Curr Opin Neurobiol 23:692-9 (2013)
 DOI:10.1016/j.conb.2013.05.005
 PMID:25359488
 著者        Samochowiec J, Samochowiec A, Puls I, Bienkowski P, Schott BH
 タイトル      Genetics of alcohol dependence: a review of clinical studies.
 雑誌        Neuropsychobiology 70:77-94 (2014)
 DOI:10.1159/000364826
 PMID:26110981
 著者        Hart AB, Kranzler HR
 タイトル      Alcohol Dependence Genetics: Lessons Learned From Genome-Wide Association Studies (GWAS) and Post-GWAS Analyses.
 雑誌        Alcohol Clin Exp Res 39:1312-27 (2015)
 DOI:10.1111/acer.12792
 PMID:25278008
 著者        Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, Hong J, Zhong C, Wang F, Zhang XY, Vanderlinden LA, Tabakoff B, Luo X
 タイトル      Genome-wide association discoveries of alcohol dependence.
 雑誌        Am J Addict 23:526-39 (2014)
 DOI:10.1111/j.1521-0391.2014.12147.x
 PMID:24456374 (drug)
 著者        Muller CA, Geisel O, Banas R, Heinz A
 タイトル      Current pharmacological treatment approaches for alcohol dependence.
 雑誌        Expert Opin Pharmacother 15:471-81 (2014)
 DOI:10.1517/14656566.2014.876008
 PMID:23170934
 著者        Rietschel M, Treutlein J
 タイトル      The genetics of alcohol dependence.
 雑誌        Ann N Y Acad Sci 1282:39-70 (2013)
 DOI:10.1111/j.1749-6632.2012.06794.x
 PMID:25408904
 著者        Nieratschker V, Batra A, Fallgatter AJ
 タイトル      Genetics and epigenetics of alcohol dependence.
 雑誌        J Mol Psychiatry 1:11 (2013)
 DOI:10.1186/2049-9256-1-11
 PMID:16534506
 著者        Prescott CA, Sullivan PF, Kuo PH, Webb BT, Vittum J, Patterson DG, Thiselton DL, Myers JM, Devitt M, Halberstadt LJ, Robinson VP, Neale MC, van den Oord EJ, Walsh D, Riley BP, Kendler KS
 タイトル      Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4.
 雑誌        Mol Psychiatry 11:603-11 (2006)
 DOI:10.1038/sj.mp.4001811","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01611"">H01611</a>",アルコール依存症,"Alcohol dependence (AD) is a chronic but often disease that includes problems in controlling one's drinking, being preoccupied with alcohol, continuing to use alcohol even when it causes problems, having to drink more to get the same effect (physical dependence), or having withdrawal symptoms when one rapidly decreases or stops drinking. The contribution of genetic factors to the development of AD is high. The best classical candidate genes for AD are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Both genes are involved in enzymatic degradation of alcohol. Recent genome-wide association studies (GWAS) have reported that the most robust associations for AD have been with such enzyme genes, especially ALDH2 in East Asian populations and ADH1B in European American and African American populations.",,"ALDH2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:217"">217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00128"">K00128</a>]
 ADH1B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:125"">125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13951"">K13951</a>]
 ADH1C (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126"">126</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13951"">K13951</a>]
 OPRM1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4988"">4988</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04215"">K04215</a>]
 DRD2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1813"">1813</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04145"">K04145</a>]
 HTR2A (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3356"">3356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04157"">K04157</a>]
 GABRA2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2555"">2555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 TAS2R16 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50833"">50833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08474"">K08474</a>]",,,,"アカンプロサートカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02780"">D02780</a>]
 ナルメフェン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10812"">D10812</a>]
 シアナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00123"">D00123</a>]
 ジスルフィラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00131"">D00131</a>]",,"ICD-11: 6C40.2
 ICD-10: F10.2 F10.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000437"">D000437</a>
 OMIM: <a href=""https://www.omim.org/entry/103780"">103780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25985735"">25985735</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Thompson A, Owens L, Pushpakom SP, Faizal M, Pirmohamed M
 タイトル      Pharmacotherapy for alcohol dependence: A stratified approach.
 雑誌        Pharmacol Ther 153:10-24 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.pharmthera.2015.05.010"">10.1016/j.pharmthera.2015.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23810221"">23810221</a> (drug)
 著者        Franck J, Jayaram-Lindstrom N
 タイトル      Pharmacotherapy for alcohol dependence: status of current treatments.
 雑誌        Curr Opin Neurobiol 23:692-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.conb.2013.05.005"">10.1016/j.conb.2013.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25359488"">25359488</a>
 著者        Samochowiec J, Samochowiec A, Puls I, Bienkowski P, Schott BH
 タイトル      Genetics of alcohol dependence: a review of clinical studies.
 雑誌        Neuropsychobiology 70:77-94 (2014)
 DOI:<a href=""https://doi.org/10.1159/000364826"">10.1159/000364826</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26110981"">26110981</a>
 著者        Hart AB, Kranzler HR
 タイトル      Alcohol Dependence Genetics: Lessons Learned From Genome-Wide Association Studies (GWAS) and Post-GWAS Analyses.
 雑誌        Alcohol Clin Exp Res 39:1312-27 (2015)
 DOI:<a href=""https://doi.org/10.1111/acer.12792"">10.1111/acer.12792</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25278008"">25278008</a>
 著者        Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, Hong J, Zhong C, Wang F, Zhang XY, Vanderlinden LA, Tabakoff B, Luo X
 タイトル      Genome-wide association discoveries of alcohol dependence.
 雑誌        Am J Addict 23:526-39 (2014)
 DOI:<a href=""https://doi.org/10.1111/j.1521-0391.2014.12147.x"">10.1111/j.1521-0391.2014.12147.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24456374"">24456374</a> (drug)
 著者        Muller CA, Geisel O, Banas R, Heinz A
 タイトル      Current pharmacological treatment approaches for alcohol dependence.
 雑誌        Expert Opin Pharmacother 15:471-81 (2014)
 DOI:<a href=""https://doi.org/10.1517/14656566.2014.876008"">10.1517/14656566.2014.876008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23170934"">23170934</a>
 著者        Rietschel M, Treutlein J
 タイトル      The genetics of alcohol dependence.
 雑誌        Ann N Y Acad Sci 1282:39-70 (2013)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2012.06794.x"">10.1111/j.1749-6632.2012.06794.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25408904"">25408904</a>
 著者        Nieratschker V, Batra A, Fallgatter AJ
 タイトル      Genetics and epigenetics of alcohol dependence.
 雑誌        J Mol Psychiatry 1:11 (2013)
 DOI:<a href=""https://doi.org/10.1186/2049-9256-1-11"">10.1186/2049-9256-1-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16534506"">16534506</a>
 著者        Prescott CA, Sullivan PF, Kuo PH, Webb BT, Vittum J, Patterson DG, Thiselton DL, Myers JM, Devitt M, Halberstadt LJ, Robinson VP, Neale MC, van den Oord EJ, Walsh D, Riley BP, Kendler KS
 タイトル      Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4.
 雑誌        Mol Psychiatry 11:603-11 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001811"">10.1038/sj.mp.4001811</a>"
H01612,本態性血小板血症,,,"Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an isolated thrombocytosis and overlaps clinically with polycythemia vera [DS:H00012] and primary myelofibrosis (PMF) [DS:H01605]. The V617F mutation in the tyrosine pseudokinase region of the JAK2 gene is found in 50 - 60% of ET patients. This mutation produces an increased tyrosine kinase activity of JAK2, resulting in uncontrolled cellular growth in the hematopoietic compartment. Calreticulin (CALR) or myeloproliferative leukemia virus oncogene (MPL) mutations occur in approximately 25%, and 3% of ET patients, respectively.",がん,,"(THCYT1) THPO [HSA:7066] [KO:K06854]
 (THCYT1) SH2B3 [HSA:10019] [KO:K12459]
 (THCYT1) CALR [HSA:811] [KO:K08057]
 (THCYT2) MPL [HSA:4352] [KO:K05082]
 (THCYT3) JAK2 [HSA:3717] [KO:K04447]",,,,"ヒドロキシカルバミド [DR:D00341]
 アナグレリド塩酸塩水和物 [DR:D10255]",,"ICD-11: 3B63
 ICD-10: D47.3
 MeSH: D013920
 OMIM: 187950 601977 614521","PMID:25611051 (CALR, MPL, JAK2)
 著者        Tefferi A, Barbui T
 タイトル      Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management.
 雑誌        Am J Hematol 90:162-73 (2015)
 DOI:10.1002/ajh.23895
 PMID:23668666
 著者        Birgegard G
 タイトル      Pharmacological management of essential thrombocythemia.
 雑誌        Expert Opin Pharmacother 14:1295-306 (2013)
 DOI:10.1517/14656566.2013.797408
 PMID:22160037
 著者        Cervantes F
 タイトル      Management of essential thrombocythemia.
 雑誌        Hematology Am Soc Hematol Educ Program 2011:215-21 (2011)
 DOI:10.1182/asheducation-2011.1.215
 PMID:9425899 (THPO)
 著者        Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC
 タイトル      An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.
 雑誌        Nat Genet 18:49-52 (1998)
 DOI:10.1038/ng0198-49
 PMID:20404132 (SH2B3)
 著者        Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J
 タイトル      Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.
 雑誌        Blood 116:988-92 (2010)
 DOI:10.1182/blood-2010-02-270108","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01612"">H01612</a>",本態性血小板血症,"Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an isolated thrombocytosis and overlaps clinically with polycythemia vera [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00012"">H00012</a>] and primary myelofibrosis (PMF) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01605]."">H01605].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:V617F"">V617F</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutation"">mutation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tyrosine"">tyrosine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pseudokinase"">pseudokinase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:region"">region</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:JAK2"">JAK2</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:50"">50</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:-"">-</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:60%"">60%</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ET"">ET</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients."">patients.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:This"">This</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutation"">mutation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:produces"">produces</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:increased"">increased</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tyrosine"">tyrosine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:kinase"">kinase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:activity"">activity</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:JAK2,"">JAK2,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:resulting"">resulting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:uncontrolled"">uncontrolled</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cellular"">cellular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:growth"">growth</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hematopoietic"">hematopoietic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:compartment."">compartment.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Calreticulin"">Calreticulin</a> (CALR) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:myeloproliferative"">myeloproliferative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:leukemia"">leukemia</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:virus"">virus</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:oncogene"">oncogene</a> (MPL) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occur"">occur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:approximately"">approximately</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:25%,"">25%,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:3%"">3%</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ET"">ET</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients,"">patients,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respectively."">respectively.</a>",,"(THCYT1) THPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7066"">7066</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06854"">K06854</a>]
 (THCYT1) SH2B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10019"">10019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12459"">K12459</a>]
 (THCYT1) CALR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:811"">811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08057"">K08057</a>]
 (THCYT2) MPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4352"">4352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05082"">K05082</a>]
 (THCYT3) JAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]",,,,"ヒドロキシカルバミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00341"">D00341</a>]
 アナグレリド塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10255"">D10255</a>]",,"ICD-11: 3B63
 ICD-10: D47.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013920"">D013920</a>
 OMIM: <a href=""https://www.omim.org/entry/187950"">187950</a> <a href=""https://www.omim.org/entry/601977"">601977</a> <a href=""https://www.omim.org/entry/614521"">614521</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25611051"">25611051</a> (CALR, <a href=""https://pubmed.ncbi.nlm.nih.gov/MPL,"">MPL,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/JAK2)"">JAK2)</a>
 著者        Tefferi A, Barbui T
 タイトル      Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management.
 雑誌        Am J Hematol 90:162-73 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajh.23895"">10.1002/ajh.23895</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23668666"">23668666</a>
 著者        Birgegard G
 タイトル      Pharmacological management of essential thrombocythemia.
 雑誌        Expert Opin Pharmacother 14:1295-306 (2013)
 DOI:<a href=""https://doi.org/10.1517/14656566.2013.797408"">10.1517/14656566.2013.797408</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22160037"">22160037</a>
 著者        Cervantes F
 タイトル      Management of essential thrombocythemia.
 雑誌        Hematology Am Soc Hematol Educ Program 2011:215-21 (2011)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2011.1.215"">10.1182/asheducation-2011.1.215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9425899"">9425899</a> (THPO)
 著者        Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC
 タイトル      An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.
 雑誌        Nat Genet 18:49-52 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0198-49"">10.1038/ng0198-49</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20404132"">20404132</a> (SH2B3)
 著者        Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, Gibbs KD Jr, Merker JD, Zehnder JL, Nolan GP, Gotlib J
 タイトル      Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.
 雑誌        Blood 116:988-92 (2010)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-02-270108"">10.1182/blood-2010-02-270108</a>"
H01613,"濾胞性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Follicular lymphoma (FL) is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement, splenomegaly, and less commonly other extranodal sites of involvement. The genetic hallmark of FL, the translocation t(14;18)(q32;q21), results in the constitutive overexpression of the bcl 2 protein, which impairs the normal germinal centre apoptotic programme. Inactivating mutations of MLL2 are found in >80% of FL and interfere with the ability of MLL2 to activate gene transcription through H3K4 methylation. Mutations of other histone modifiers (CREBBP, EZH2, MEF2B, and EP300) are found in ;33%, 27%, 15%, and 9% of FL, respectively.",がん,,"IgH-BCL2 (translocation) [HSA:596] [KO:K02161]
 EZH2 (mutation) [HSA:2146] [KO:K11430]
 MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187]
 CREBBP (mutation) [HSA:1387] [KO:K04498]
 MEF2B (mutation) [HSA:4207] [KO:K09261]
 EP300 (mutation) [HSA:2033] [KO:K04498]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ベンダムスチン塩酸塩 [DR:D07085]
 ベンダムスチン塩酸塩水和物 [DR:D11661]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 クラドリビン [DR:D01370]
 ミトキサントロン塩酸塩 [DR:D02166]
 リツキシマブ [DR:D02994] (CD20陽性)
 オビヌツズマブ [DR:D09321] (CD20陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 L-アスパラギナーゼ [DR:D02997]
 タゼメトスタット臭化水素酸塩 [DR:D11485] (EZH2遺伝子変異陽性)
 レナリドミド水和物 [DR:D09813]
 イブリツモマブチウキセタン [DR:D04489] (CD20陽性)
 ソブゾキサン [DR:D01404]
 リソカブタゲンマラルユーセル [DR:D11990]",,"ICD-11: 2A80
 ICD-10: C82
 MeSH: D008224","PMID:24687887 (gene, drug)
 著者        Freedman A
 タイトル      Follicular lymphoma: 2014 update on diagnosis and management.
 雑誌        Am J Hematol 89:429-36 (2014)
 DOI:10.1002/ajh.23674
 PMID:24942941 (gene, ICD-O-3)
 著者        Takata K, Miyata-Takata T, Sato Y, Yoshino T
 タイトル      Pathology of follicular lymphoma.
 雑誌        J Clin Exp Hematop 54:3-9 (2014)
 DOI:10.3960/jslrt.54.3
 PMID:26989204 (gene, drug)
 著者        Kahl BS, Yang DT
 タイトル      Follicular lymphoma: evolving therapeutic strategies.
 雑誌        Blood 127:2055-63 (2016)
 DOI:10.1182/blood-2015-11-624288
 PMID:24577532
 著者        Hiddemann W, Cheson BD
 タイトル      How we manage follicular lymphoma.
 雑誌        Leukemia 28:1388-95 (2014)
 DOI:10.1038/leu.2014.91
 PMID:23023713 (gene, drug)
 著者        Kridel R, Sehn LH, Gascoyne RD
 タイトル      Pathogenesis of follicular lymphoma.
 雑誌        J Clin Invest 122:3424-31 (2012)
 DOI:10.1172/JCI63186
 PMID:25804839 (drug)
 著者        Herold M, Scholz CW, Rothmann F, Hirt C, Lakner V, Naumann R
 タイトル      Long-term follow-up of rituximab plus first-line mitoxantrone, chlorambucil, prednisolone and interferon-alpha as maintenance therapy in follicular lymphoma.
 雑誌        J Cancer Res Clin Oncol 141:1689-95 (2015)
 DOI:10.1007/s00432-015-1963-9
 PMID:20943608 (drug)
 著者        Ghielmini M
 タイトル      Follicular lymphoma.
 雑誌        Ann Oncol 21 Suppl 7:vii151-3 (2010)
 DOI:10.1093/annonc/mdq287
 PMID:15684317 (drug)
 著者        Rohatiner AZ, Gregory WM, Peterson B, Borden E, Solal-Celigny P, Hagenbeek A, Fisher RI, Unterhalt M, Arranz R, Chisesi T, Aviles A, Lister TA
 タイトル      Meta-analysis to evaluate the role of interferon in follicular lymphoma.
 雑誌        J Clin Oncol 23:2215-23 (2005)
 DOI:10.1200/JCO.2005.06.146","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01613"">H01613</a>","濾胞性リンパ腫
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Follicular lymphoma (FL) is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement, splenomegaly, and less commonly other extranodal sites of involvement. The genetic hallmark of FL, the translocation t(14;18)(q32;q21), results in the constitutive overexpression of the bcl 2 protein, which impairs the normal germinal centre apoptotic programme. Inactivating mutations of MLL2 are found in >80% of FL and interfere with the ability of MLL2 to activate gene transcription through H3K4 methylation. Mutations of other histone modifiers (CREBBP, EZH2, MEF2B, and EP300) are found in ;33%, 27%, 15%, and 9% of FL, respectively.",,"IgH-BCL2 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 EZH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]
 MLL2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9757"">9757</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8085"">8085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14959"">K14959</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09187"">K09187</a>]
 CREBBP (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1387"">1387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]
 MEF2B (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4207"">4207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09261"">K09261</a>]
 EP300 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2033"">2033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ベンダムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07085"">D07085</a>]
 ベンダムスチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11661"">D11661</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 クラドリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01370"">D01370</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>] (CD20陽性)
 オビヌツズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09321"">D09321</a>] (CD20陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 タゼメトスタット臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11485"">D11485</a>] (EZH2遺伝子変異陽性)
 レナリドミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09813"">D09813</a>]
 イブリツモマブチウキセタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04489"">D04489</a>] (CD20陽性)
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 リソカブタゲンマラルユーセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11990"">D11990</a>]",,"ICD-11: 2A80
 ICD-10: C82
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008224"">D008224</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24687887"">24687887</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Freedman A
 タイトル      Follicular lymphoma: 2014 update on diagnosis and management.
 雑誌        Am J Hematol 89:429-36 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajh.23674"">10.1002/ajh.23674</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24942941"">24942941</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/ICD-O-3)"">ICD-O-3)</a>
 著者        Takata K, Miyata-Takata T, Sato Y, Yoshino T
 タイトル      Pathology of follicular lymphoma.
 雑誌        J Clin Exp Hematop 54:3-9 (2014)
 DOI:<a href=""https://doi.org/10.3960/jslrt.54.3"">10.3960/jslrt.54.3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26989204"">26989204</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Kahl BS, Yang DT
 タイトル      Follicular lymphoma: evolving therapeutic strategies.
 雑誌        Blood 127:2055-63 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-11-624288"">10.1182/blood-2015-11-624288</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24577532"">24577532</a>
 著者        Hiddemann W, Cheson BD
 タイトル      How we manage follicular lymphoma.
 雑誌        Leukemia 28:1388-95 (2014)
 DOI:<a href=""https://doi.org/10.1038/leu.2014.91"">10.1038/leu.2014.91</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23023713"">23023713</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Kridel R, Sehn LH, Gascoyne RD
 タイトル      Pathogenesis of follicular lymphoma.
 雑誌        J Clin Invest 122:3424-31 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI63186"">10.1172/JCI63186</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25804839"">25804839</a> (drug)
 著者        Herold M, Scholz CW, Rothmann F, Hirt C, Lakner V, Naumann R
 タイトル      Long-term follow-up of rituximab plus first-line mitoxantrone, chlorambucil, prednisolone and interferon-alpha as maintenance therapy in follicular lymphoma.
 雑誌        J Cancer Res Clin Oncol 141:1689-95 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00432-015-1963-9"">10.1007/s00432-015-1963-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20943608"">20943608</a> (drug)
 著者        Ghielmini M
 タイトル      Follicular lymphoma.
 雑誌        Ann Oncol 21 Suppl 7:vii151-3 (2010)
 DOI:<a href=""https://doi.org/10.1093/annonc/mdq287"">10.1093/annonc/mdq287</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15684317"">15684317</a> (drug)
 著者        Rohatiner AZ, Gregory WM, Peterson B, Borden E, Solal-Celigny P, Hagenbeek A, Fisher RI, Unterhalt M, Arranz R, Chisesi T, Aviles A, Lister TA
 タイトル      Meta-analysis to evaluate the role of interferon in follicular lymphoma.
 雑誌        J Clin Oncol 23:2215-23 (2005)
 DOI:<a href=""https://doi.org/10.1200/JCO.2005.06.146"">10.1200/JCO.2005.06.146</a>"
H01614,"多系統萎縮症
 下位グループ    線条体黒質変性症
 オリーブ橋小脳委縮症
 シャイドレーガー症候群",,,"Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. MSA encompasses striatonigral degeneration, olivopontocerebellar atrophy, and Shy-Drager syndrome, which were originally described as independent clinicopathological entities. The coexistence was detected later, and these conditions were regarded as nosologically allied. The disease is characterized by the accumulation of alpha-synuclein fibrils in oligodendrocytes that form glial cytoplasmic inclusions (GCI), a neuropathological hallmark and central player in the pathogenesis of MSA. Although MSA is widely considered to be a nongenetic disorder, genetic mutations of the COQ2 gene have been linked to MSA as identified in Japanese families.",神経変性疾患,,COQ2 [HSA:27235] [KO:K06125],,,,ドロキシドパ [DR:D01277],See also H01600 Parkinsonian syndrome.,"ICD-11: 8D87.0
 ICD-10: G23
 MeSH: D019578 D020955 D009849 D012791
 OMIM: 146500","PMID:26785838
 著者        Stefanova N, Wenning GK
 タイトル      Review: Multiple system atrophy: emerging targets for interventional therapies.
 雑誌        Neuropathol Appl Neurobiol 42:20-32 (2016)
 DOI:10.1111/nan.12304
 PMID:18018485
 著者        Yoshida M
 タイトル      Multiple system atrophy: alpha-synuclein and neuronal degeneration.
 雑誌        Neuropathology 27:484-93 (2007)
 DOI:10.1111/j.1440-1789.2007.00841.x
 PMID:27123473
 著者        Sun Z, Ohta Y, Yamashita T, Sato K, Takemoto M, Hishikawa N, Abe K
 タイトル      New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy.
 雑誌        Neurol Genet 2:e54 (2016)
 DOI:10.1212/NXG.0000000000000054
 PMID:26092297 (drug)
 著者        Kaufmann H, Norcliffe-Kaufmann L, Palma JA
 タイトル      Droxidopa in neurogenic orthostatic hypotension.
 雑誌        Expert Rev Cardiovasc Ther 13:875-91 (2015)
 DOI:10.1586/14779072.2015.1057504","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01614"">H01614</a>","多系統萎縮症
 下位グループ    線条体黒質変性症
 オリーブ橋小脳委縮症
 シャイドレーガー症候群","Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. MSA encompasses striatonigral degeneration, olivopontocerebellar atrophy, and Shy-Drager syndrome, which were originally described as independent clinicopathological entities. The coexistence was detected later, and these conditions were regarded as nosologically allied. The disease is characterized by the accumulation of alpha-synuclein fibrils in oligodendrocytes that form glial cytoplasmic inclusions (GCI), a neuropathological hallmark and central player in the pathogenesis of MSA. Although MSA is widely considered to be a nongenetic disorder, genetic mutations of the COQ2 gene have been linked to MSA as identified in Japanese families.",,"COQ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27235"">27235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06125"">K06125</a>]",,,,"ドロキシドパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01277"">D01277</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01600"">H01600</a> Parkinsonian syndrome.","ICD-11: 8D87.0
 ICD-10: G23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019578"">D019578</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020955"">D020955</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009849"">D009849</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012791"">D012791</a>
 OMIM: <a href=""https://www.omim.org/entry/146500"">146500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26785838"">26785838</a>
 著者        Stefanova N, Wenning GK
 タイトル      Review: Multiple system atrophy: emerging targets for interventional therapies.
 雑誌        Neuropathol Appl Neurobiol 42:20-32 (2016)
 DOI:<a href=""https://doi.org/10.1111/nan.12304"">10.1111/nan.12304</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18018485"">18018485</a>
 著者        Yoshida M
 タイトル      Multiple system atrophy: alpha-synuclein and neuronal degeneration.
 雑誌        Neuropathology 27:484-93 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1789.2007.00841.x"">10.1111/j.1440-1789.2007.00841.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27123473"">27123473</a>
 著者        Sun Z, Ohta Y, Yamashita T, Sato K, Takemoto M, Hishikawa N, Abe K
 タイトル      New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy.
 雑誌        Neurol Genet 2:e54 (2016)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000054"">10.1212/NXG.0000000000000054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26092297"">26092297</a> (drug)
 著者        Kaufmann H, Norcliffe-Kaufmann L, Palma JA
 タイトル      Droxidopa in neurogenic orthostatic hypotension.
 雑誌        Expert Rev Cardiovasc Ther 13:875-91 (2015)
 DOI:<a href=""https://doi.org/10.1586/14779072.2015.1057504"">10.1586/14779072.2015.1057504</a>"
H01615,"過敏大腸症;
 イリタブルコロン",,,"Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. It is characterized by symptoms of abdominal pain, bloating, and abnormal bowel movements, such as diarrhea or constipation. In IBS, there appears to be no organic substance or biochemical abnormality that can explain the symptoms. IBS can be classified into categories: constipation predominant IBS (IBS-C), diarrhea predominant IBS (IBS-D), mixed IBS (IBS-M), and un-subtyped IBS. Anticholinergic drugs, 5-HT3 receptor antagonist, high molecular weight polymers (polycarbophil calcium), gastrointestinal motility regulators, probiotics preparations, and laxatives are used in the treatment of IBS. However, they are not uniformly effective. Several studies of patients with IBS suggest that this disorder aggregates in families, and thus, appears potentially heritable. It has been reported that familial GUCY2C diarrhoea syndrome shares clinical characteristics with IBS-D.",消化器系疾患,,GUCY2C [HSA:2984] [KO:K12320],,,,"オキセサゼイン [DR:D01152]
 プロパンテリン臭化物 [DR:D00481]
 メペンゾラート臭化物 [DR:D00720]
 チキジウム臭化物 [DR:D01875]
 メペンゾラート臭化物・フェノバルビタール [DR:D04059]
 ラモセトロン塩酸塩 [DR:D02016]
 トリメブチンマレイン酸塩 [DR:D01500]
 ポリカルボフィルカルシウム [DR:D03306]
 リナクロチド [DR:D09355]",,"ICD-11: DD91.0
 ICD-10: K58
 MeSH: D043183
 OMIM: 614616","PMID:21333900
 著者        Saito YA
 タイトル      The role of genetics in IBS.
 雑誌        Gastroenterol Clin North Am 40:45-67 (2011)
 DOI:10.1016/j.gtc.2010.12.011
 PMID:27372289
 著者        Shah SL, Lacy BE
 タイトル      Dietary Interventions and Irritable Bowel Syndrome: A Review of the Evidence.
 雑誌        Curr Gastroenterol Rep 18:41 (2016)
 DOI:10.1007/s11894-016-0517-x
 PMID:27338166
 著者        von Volkmann HL, Nylund K, Tronstad RR, Hovdenak N, Hausken T, Fiskerstrand T, Gilja OH
 タイトル      An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel.
 雑誌        Scand J Gastroenterol 1-8 (2016)
 DOI:10.1080/00365521.2016.1200139
 PMID:11488427 (drug)
 著者        Kobayashi S, Ikeda K, Suzuki M, Yamada T, Miyata K
 タイトル      Effects of YM905, a novel muscarinic M3-receptor antagonist, on experimental models of bowel dysfunction in vivo.
 雑誌        Jpn J Pharmacol 86:281-8 (2001)
 DOI:10.1254/jjp.86.281
 PMID:22837880 (drug)
 著者        Fukushima Y, Suzuki H, Matsuzaki J, Kiyosue A, Hibi T
 タイトル      Efficacy of Solifenacin on Irritable Bowel Syndrome With Diarrhea: Open-label Prospective Pilot Trial.
 雑誌        J Neurogastroenterol Motil 18:317-23 (2012)
 DOI:10.5056/jnm.2012.18.3.317","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01615"">H01615</a>","過敏大腸症;
 イリタブルコロン","Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. It is characterized by symptoms of abdominal pain, bloating, and abnormal bowel movements, such as diarrhea or constipation. In IBS, there appears to be no organic substance or biochemical abnormality that can explain the symptoms. IBS can be classified into categories: constipation predominant IBS (IBS-C), diarrhea predominant IBS (IBS-D), mixed IBS (IBS-M), and un-subtyped IBS. Anticholinergic drugs, 5-HT3 receptor antagonist, high molecular weight polymers (polycarbophil calcium), gastrointestinal motility regulators, probiotics preparations, and laxatives are used in the treatment of IBS. However, they are not uniformly effective. Several studies of patients with IBS suggest that this disorder aggregates in families, and thus, appears potentially heritable. It has been reported that familial GUCY2C diarrhoea syndrome shares clinical characteristics with IBS-D.",,"GUCY2C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2984"">2984</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12320"">K12320</a>]",,,,"オキセサゼイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01152"">D01152</a>]
 プロパンテリン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00481"">D00481</a>]
 メペンゾラート臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00720"">D00720</a>]
 チキジウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01875"">D01875</a>]
 メペンゾラート臭化物・フェノバルビタール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04059"">D04059</a>]
 ラモセトロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02016"">D02016</a>]
 トリメブチンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01500"">D01500</a>]
 ポリカルボフィルカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03306"">D03306</a>]
 リナクロチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09355"">D09355</a>]",,"ICD-11: DD91.0
 ICD-10: K58
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D043183"">D043183</a>
 OMIM: <a href=""https://www.omim.org/entry/614616"">614616</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21333900"">21333900</a>
 著者        Saito YA
 タイトル      The role of genetics in IBS.
 雑誌        Gastroenterol Clin North Am 40:45-67 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.gtc.2010.12.011"">10.1016/j.gtc.2010.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27372289"">27372289</a>
 著者        Shah SL, Lacy BE
 タイトル      Dietary Interventions and Irritable Bowel Syndrome: A Review of the Evidence.
 雑誌        Curr Gastroenterol Rep 18:41 (2016)
 DOI:<a href=""https://doi.org/10.1007/s11894-016-0517-x"">10.1007/s11894-016-0517-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27338166"">27338166</a>
 著者        von Volkmann HL, Nylund K, Tronstad RR, Hovdenak N, Hausken T, Fiskerstrand T, Gilja OH
 タイトル      An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel.
 雑誌        Scand J Gastroenterol 1-8 (2016)
 DOI:<a href=""https://doi.org/10.1080/00365521.2016.1200139"">10.1080/00365521.2016.1200139</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11488427"">11488427</a> (drug)
 著者        Kobayashi S, Ikeda K, Suzuki M, Yamada T, Miyata K
 タイトル      Effects of YM905, a novel muscarinic M3-receptor antagonist, on experimental models of bowel dysfunction in vivo.
 雑誌        Jpn J Pharmacol 86:281-8 (2001)
 DOI:<a href=""https://doi.org/10.1254/jjp.86.281"">10.1254/jjp.86.281</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22837880"">22837880</a> (drug)
 著者        Fukushima Y, Suzuki H, Matsuzaki J, Kiyosue A, Hibi T
 タイトル      Efficacy of Solifenacin on Irritable Bowel Syndrome With Diarrhea: Open-label Prospective Pilot Trial.
 雑誌        J Neurogastroenterol Motil 18:317-23 (2012)
 DOI:<a href=""https://doi.org/10.5056/jnm.2012.18.3.317"">10.5056/jnm.2012.18.3.317</a>"
H01616,"脊髄小脳変性症
 下位グループ    脊髄小脳失調症 [DS:H00063]
 歯状核赤核淡蒼球ルイ体萎縮症 [DS:H00060]
 フリードライヒ運動失調症 (FA) [DS:H00067]
 ビタミン E 欠乏による運動失調症 [DS:H00981]
 眼球運動失行を伴う失調症 [DS:H00848]
 常染色体劣性遺伝性痙性失調症 シャルルヴォア・サグエ型 [DS:H01170]",,,"Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria, dysphagia, extrapyramidal sign, pyramidal sign, and autonomic disorder. Spinocerebellar degeneration includes both sporadic and hereditary forms. Most cases of sporadic spinocerebellar degeneration are now considered to be multiple system atrophy (MSA). Hereditary spinocerebellar degeneration includes autosomal dominant types and autosomal recessive types.",神経変性疾患,,,,,,"プロチレリン酒石酸塩水和物 [DR:D02007]
 タルチレリン水和物 [DR:D01925]
 ダントロレンナトリウム水和物 [DR:D02274]
 バクロフェン [DR:D00241]
 チザニジン塩酸塩 [DR:D00776]
 エペリゾン塩酸塩 [DR:D01671]
 アフロクアロン [DR:D01638]","Autosomal dominant type: Spinocerebellar ataxia (SCA), Dentatorubropallidoluysian atrophy (DRPLA)
 Autosomal recessive type: Friedreich ataxia (FA), Ataxia with isolated vitamin E deficiency (AVED), Ataxia with ocular apraxia (AOA), Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","ICD-11: 8A03
 ICD-10: G11
 MeSH: D013132","PMID:19295212
 著者        Kawai Y, Suenaga M, Watanabe H, Sobue G
 タイトル      Cognitive impairment in spinocerebellar degeneration.
 雑誌        Eur Neurol 61:257-68 (2009)
 DOI:10.1159/000206850
 PMID:23538602
 著者        Jayadev S, Bird TD
 タイトル      Hereditary ataxias: overview.
 雑誌        Genet Med 15:673-83 (2013)
 DOI:10.1038/gim.2013.28","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01616"">H01616</a>","脊髄小脳変性症
 下位グループ    脊髄小脳失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00063"">H00063</a>]
 歯状核赤核淡蒼球ルイ体萎縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00060"">H00060</a>]
 フリードライヒ運動失調症 (FA) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00067"">H00067</a>]
 ビタミン E 欠乏による運動失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00981"">H00981</a>]
 眼球運動失行を伴う失調症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00848"">H00848</a>]
 常染色体劣性遺伝性痙性失調症 シャルルヴォア・サグエ型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01170"">H01170</a>]","Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria, dysphagia, extrapyramidal sign, pyramidal sign, and autonomic disorder. Spinocerebellar degeneration includes both sporadic and hereditary forms. Most cases of sporadic spinocerebellar degeneration are now considered to be multiple system atrophy (MSA). Hereditary spinocerebellar degeneration includes autosomal dominant types and autosomal recessive types.",,,,,,"プロチレリン酒石酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02007"">D02007</a>]
 タルチレリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01925"">D01925</a>]
 ダントロレンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02274"">D02274</a>]
 バクロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00241"">D00241</a>]
 チザニジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00776"">D00776</a>]
 エペリゾン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01671"">D01671</a>]
 アフロクアロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01638"">D01638</a>]","Autosomal dominant type: Spinocerebellar ataxia (SCA), Dentatorubropallidoluysian atrophy (DRPLA)
 Autosomal recessive type: Friedreich ataxia (FA), Ataxia with isolated vitamin E deficiency (AVED), Ataxia with ocular apraxia (AOA), Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","ICD-11: 8A03
 ICD-10: G11
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013132"">D013132</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19295212"">19295212</a>
 著者        Kawai Y, Suenaga M, Watanabe H, Sobue G
 タイトル      Cognitive impairment in spinocerebellar degeneration.
 雑誌        Eur Neurol 61:257-68 (2009)
 DOI:<a href=""https://doi.org/10.1159/000206850"">10.1159/000206850</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23538602"">23538602</a>
 著者        Jayadev S, Bird TD
 タイトル      Hereditary ataxias: overview.
 雑誌        Genet Med 15:673-83 (2013)
 DOI:<a href=""https://doi.org/10.1038/gim.2013.28"">10.1038/gim.2013.28</a>"
H01617,"食物媒介吸虫類感染症
 下位グループ    肝吸虫症 [DS:H01610]
 肝蛭症 [DS:H01048]
 オピストルキス症 [DS:H01628]
 肺吸虫症 [DS:H01093]",,,"Foodborne trematode infections, which are caused by four main genera: Clonorchis spp. that cause clonorchiasis, Opisthorchis spp. that cause opisthorchiasis, Fasciola spp. that cause fascioliasis and Paragonimus spp. that cause paragonimiasis. Foodborne trematode infections are accomplished through ingestion of metacercariae by eating raw or insufficiently cooked freshwater fish (C. sinensis, Opisthorchis spp., Echinostoma spp., heterophyids, Metagonimus spp.), freshwater crab or crayfish (Paragonimus spp.), aquatic plants (Fasciola spp., Fasciolopis buski), snails or tadpoles (Echinostoma spp.), or by drinking contaminated water (Fasciola spp.).",感染症,,,"Haplorchis spp.
 Heterophyes heterophyes
 Metagonimus yokogawai
 Metagonimus takahashii
 Clonorchis sinensis
 Opisthorchis felineus
 Opisthorchis viverrini [GN:ovi]
 Paragonimus westermani complex
 Paragonimus skrjabini complex
 Paragonimus miyazakii
 Paragonimus africanus
 Paragonimus heterotremus
 Paragonimus kellicotti
 Paragonimus mexicanus
 Paragonimus uterbilateralis
 Fasciolopsis buski
 Fasciola hepatica
 Fasciola gigantica
 Echinostoma hortense
 Echinostoma angustitestis
 Echinostoma cinetorchis
 Echinostoma echinatum
 Echinostoma ilocanum
 Echinostoma macrorchis
 Echinostoma malayanum
 Echinostoma revolutum",,,,,"ICD-11: 1F8Y
 ICD-10: B66
 MeSH: D014201","PMID:16318688
 著者        Keiser J, Utzinger J
 タイトル      Emerging foodborne trematodiasis.
 雑誌        Emerg Infect Dis 11:1507-14 (2005)
 DOI:10.3201/eid1110.050614
 PMID:20352454
 著者        Fried B, Abruzzi A
 タイトル      Food-borne trematode infections of humans in the United States of America.
 雑誌        Parasitol Res 106:1263-80 (2010)
 DOI:10.1007/s00436-010-1807-0
 PMID:19597009 (pathogen)
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:10.1128/CMR.00012-09","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01617"">H01617</a>","食物媒介吸虫類感染症
 下位グループ    肝吸虫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01610"">H01610</a>]
 肝蛭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01048"">H01048</a>]
 オピストルキス症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01628"">H01628</a>]
 肺吸虫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01093"">H01093</a>]","Foodborne trematode infections, which are caused by four main genera: Clonorchis spp. that cause clonorchiasis, Opisthorchis spp. that cause opisthorchiasis, Fasciola spp. that cause fascioliasis and Paragonimus spp. that cause paragonimiasis. Foodborne trematode infections are accomplished through ingestion of metacercariae by eating raw or insufficiently cooked freshwater fish (C. sinensis, Opisthorchis spp., Echinostoma spp., heterophyids, Metagonimus spp.), freshwater crab or crayfish (Paragonimus spp.), aquatic plants (Fasciola spp., Fasciolopis buski), snails or tadpoles (Echinostoma spp.), or by drinking contaminated water (Fasciola spp.).",,,"Haplorchis spp.
 Heterophyes heterophyes
 Metagonimus yokogawai
 Metagonimus takahashii
 Clonorchis sinensis
 Opisthorchis felineus
 Opisthorchis viverrini [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ovi"">ovi</a>]
 Paragonimus westermani complex
 Paragonimus skrjabini complex
 Paragonimus miyazakii
 Paragonimus africanus
 Paragonimus heterotremus
 Paragonimus kellicotti
 Paragonimus mexicanus
 Paragonimus uterbilateralis
 Fasciolopsis buski
 Fasciola hepatica
 Fasciola gigantica
 Echinostoma hortense
 Echinostoma angustitestis
 Echinostoma cinetorchis
 Echinostoma echinatum
 Echinostoma ilocanum
 Echinostoma macrorchis
 Echinostoma malayanum
 Echinostoma revolutum",,,,,"ICD-11: 1F8Y
 ICD-10: B66
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014201"">D014201</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16318688"">16318688</a>
 著者        Keiser J, Utzinger J
 タイトル      Emerging foodborne trematodiasis.
 雑誌        Emerg Infect Dis 11:1507-14 (2005)
 DOI:<a href=""https://doi.org/10.3201/eid1110.050614"">10.3201/eid1110.050614</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20352454"">20352454</a>
 著者        Fried B, Abruzzi A
 タイトル      Food-borne trematode infections of humans in the United States of America.
 雑誌        Parasitol Res 106:1263-80 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00436-010-1807-0"">10.1007/s00436-010-1807-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19597009"">19597009</a> (pathogen)
 著者        Keiser J, Utzinger J
 タイトル      Food-borne trematodiases.
 雑誌        Clin Microbiol Rev 22:466-83 (2009)
 DOI:<a href=""https://doi.org/10.1128/CMR.00012-09"">10.1128/CMR.00012-09</a>"
H01618,"下垂体性巨人症
 上位グループ    下垂体性成長ホルモン分泌亢進症 [DS:H01864]",,,"Pituitary gigantism is very rare conditions resulting from excessive secretion of growth hormone (GH). Most cases are due to benign pituitary adenomas. Nonadenomatous GH excess is exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for the treatment of pituitary gigantism include surgery, medication and radiation.",内分泌疾患,,GPR101 (duplication) [HSA:83550] [KO:K08423],,,,"ブロモクリプチンメシル酸塩 [DR:D00780]
 オクトレオチド酢酸塩 [DR:D02250]
 ランレオチド酢酸塩 [DR:D04666]
 パシレオチドパモ酸塩 [DR:D10566]","See also H00247 Multiple endocrine neoplasia syndrome (MEN), H01102 Pituitary adenomas, and H01483 Acromegaly.","ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: D005877
 OMIM: 300943","PMID:21976722
 著者        Glasker S, Vortmeyer AO, Lafferty AR, Hofman PL, Li J, Weil RJ, Zhuang Z, Oldfield EH
 タイトル      Hereditary pituitary hyperplasia with infantile gigantism.
 雑誌        J Clin Endocrinol Metab 96:E2078-87 (2011)
 DOI:10.1210/jc.2011-1401
 PMID:26845047 (marker)
 著者        Hannema SE, Savendahl L
 タイトル      The Evaluation and Management of Tall Stature.
 雑誌        Horm Res Paediatr 85:347-52 (2016)
 DOI:10.1159/000443685
 PMID:25470569
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:10.1056/NEJMoa1408028
 PMID:25905378 (drug)
 著者        Eugster E
 タイトル      Gigantism
 雑誌        Endotext (2000)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01618"">H01618</a>","下垂体性巨人症
 上位グループ    下垂体性成長ホルモン分泌亢進症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01864"">H01864</a>]","Pituitary gigantism is very rare conditions resulting from excessive secretion of growth hormone (GH). Most cases are due to benign pituitary adenomas. Nonadenomatous GH excess is exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for the treatment of pituitary gigantism include surgery, medication and radiation.",,"GPR101 (duplication) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83550"">83550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08423"">K08423</a>]",,,,"ブロモクリプチンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00780"">D00780</a>]
 オクトレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02250"">D02250</a>]
 ランレオチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04666"">D04666</a>]
 パシレオチドパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10566"">D10566</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00247"">H00247</a> Multiple endocrine neoplasia syndrome (MEN), <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a> Pituitary adenomas, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01483"">H01483</a> Acromegaly.","ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005877"">D005877</a>
 OMIM: <a href=""https://www.omim.org/entry/300943"">300943</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21976722"">21976722</a>
 著者        Glasker S, Vortmeyer AO, Lafferty AR, Hofman PL, Li J, Weil RJ, Zhuang Z, Oldfield EH
 タイトル      Hereditary pituitary hyperplasia with infantile gigantism.
 雑誌        J Clin Endocrinol Metab 96:E2078-87 (2011)
 DOI:<a href=""https://doi.org/10.1210/jc.2011-1401"">10.1210/jc.2011-1401</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26845047"">26845047</a> (marker)
 著者        Hannema SE, Savendahl L
 タイトル      The Evaluation and Management of Tall Stature.
 雑誌        Horm Res Paediatr 85:347-52 (2016)
 DOI:<a href=""https://doi.org/10.1159/000443685"">10.1159/000443685</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25470569"">25470569</a>
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1408028"">10.1056/NEJMoa1408028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25905378"">25905378</a> (drug)
 著者        Eugster E
 タイトル      Gigantism
 雑誌        Endotext (2000)"
H01619,原発性肺高血圧症,,,"Primary pulmonary hypertension (PPH) is a progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II bone morphogenetic protein (BMP) receptor (BMPR)-II are now considered to be the genetic basis for familial PPH and ~30% of cases of sporadic PPH. BMPs are members of the transforming growth factor beta superfamily and affect intracellular signalling via Smads and mitogen-activated protein kinases. It has been shown that missense mutations of cysteine residues in the extracellular or kinase domain of BMPR2 result in intracellular localisation of the mutated receptor and negligible Smad signalling.",循環器疾患,,"(PPH1) BMPR2 [HSA:659] [KO:K04671]
 (PPH2) SMAD9 [HSA:4093] [KO:K16791]
 (PPH3) CAV1 [HSA:857] [KO:K06278]
 (PPH4) KCNK3 [HSA:3777] [KO:K04914]",,,,ベラプロストナトリウム [DR:D01551],,"ICD-11: BB01
 ICD-10: I27.0
 MeSH: D065627
 OMIM: 178600 615342 615343 615344","PMID:9729004
 著者        Gaine SP, Rubin LJ
 タイトル      Primary pulmonary hypertension.
 雑誌        Lancet 352:719-25 (1998)
 DOI:10.1016/S0140-6736(98)02111-4
 PMID:12737878 (PPH1)
 著者        Runo JR, Loyd JE
 タイトル      Primary pulmonary hypertension.
 雑誌        Lancet 361:1533-44 (2003)
 DOI:10.1016/S0140-6736(03)13167-4
 PMID:15005857
 著者        Rudarakanchana N, Morrell NW
 タイトル      Primary pulmonary hypertension: molecular basis and potential for therapy.
 雑誌        Expert Rev Mol Med 6:1-15 (2004)
 DOI:10.1017/S1462399404007483
 PMID:12503718
 著者        Eddahibi S, Morrell N, d'Ortho MP, Naeije R, Adnot S
 タイトル      Pathobiology of pulmonary arterial hypertension.
 雑誌        Eur Respir J 20:1559-72 (2002)
 DOI:10.1183/09031936.02.00081302
 PMID:19211612 (PPH2)
 著者        Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R
 タイトル      A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.
 雑誌        J Med Genet 46:331-7 (2009)
 DOI:10.1136/jmg.2008.062703
 PMID:22474227 (PPH3)
 著者        Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK
 タイトル      Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
 雑誌        Circ Cardiovasc Genet 5:336-43 (2012)
 DOI:10.1161/CIRCGENETICS.111.961888
 PMID:23883380 (PPH4)
 著者        Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
 タイトル      A novel channelopathy in pulmonary arterial hypertension.
 雑誌        N Engl J Med 369:351-361 (2013)
 DOI:10.1056/NEJMoa1211097","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01619"">H01619</a>",原発性肺高血圧症,"Primary pulmonary hypertension (PPH) is a progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II bone morphogenetic protein (BMP) receptor (BMPR)-II are now considered to be the genetic basis for familial PPH and ~30% of cases of sporadic PPH. BMPs are members of the transforming growth factor beta superfamily and affect intracellular signalling via Smads and mitogen-activated protein kinases. It has been shown that missense mutations of cysteine residues in the extracellular or kinase domain of BMPR2 result in intracellular localisation of the mutated receptor and negligible Smad signalling.",,"(PPH1) BMPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:659"">659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04671"">K04671</a>]
 (PPH2) SMAD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4093"">4093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16791"">K16791</a>]
 (PPH3) CAV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:857"">857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06278"">K06278</a>]
 (PPH4) KCNK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3777"">3777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04914"">K04914</a>]",,,,"ベラプロストナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01551"">D01551</a>]",,"ICD-11: BB01
 ICD-10: I27.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065627"">D065627</a>
 OMIM: <a href=""https://www.omim.org/entry/178600"">178600</a> <a href=""https://www.omim.org/entry/615342"">615342</a> <a href=""https://www.omim.org/entry/615343"">615343</a> <a href=""https://www.omim.org/entry/615344"">615344</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9729004"">9729004</a>
 著者        Gaine SP, Rubin LJ
 タイトル      Primary pulmonary hypertension.
 雑誌        Lancet 352:719-25 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(98)02111-4"">10.1016/S0140-6736(98)02111-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12737878"">12737878</a> (PPH1)
 著者        Runo JR, Loyd JE
 タイトル      Primary pulmonary hypertension.
 雑誌        Lancet 361:1533-44 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)13167-4"">10.1016/S0140-6736(03)13167-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15005857"">15005857</a>
 著者        Rudarakanchana N, Morrell NW
 タイトル      Primary pulmonary hypertension: molecular basis and potential for therapy.
 雑誌        Expert Rev Mol Med 6:1-15 (2004)
 DOI:<a href=""https://doi.org/10.1017/S1462399404007483"">10.1017/S1462399404007483</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12503718"">12503718</a>
 著者        Eddahibi S, Morrell N, d'Ortho MP, Naeije R, Adnot S
 タイトル      Pathobiology of pulmonary arterial hypertension.
 雑誌        Eur Respir J 20:1559-72 (2002)
 DOI:<a href=""https://doi.org/10.1183/09031936.02.00081302"">10.1183/09031936.02.00081302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19211612"">19211612</a> (PPH2)
 著者        Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R
 タイトル      A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.
 雑誌        J Med Genet 46:331-7 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.062703"">10.1136/jmg.2008.062703</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22474227"">22474227</a> (PPH3)
 著者        Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK
 タイトル      Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
 雑誌        Circ Cardiovasc Genet 5:336-43 (2012)
 DOI:<a href=""https://doi.org/10.1161/CIRCGENETICS.111.961888"">10.1161/CIRCGENETICS.111.961888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23883380"">23883380</a> (PPH4)
 著者        Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
 タイトル      A novel channelopathy in pulmonary arterial hypertension.
 雑誌        N Engl J Med 369:351-361 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1211097"">10.1056/NEJMoa1211097</a>"
H01620,"レイノー症候群
 下位グループ    レイノー病
 レイノー現象",,,"Raynaud syndrome (RS) is characterized by episodic digital ischemia induced by cold or emotional stress. Pathophysiologic mechanisms include temporary vasospasm and fixed digital artery obstruction. Although the underlying pathophysiological mechanism is unclear, alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. RS can occur as an isolated entity, historically referred to as Raynaud disease or now primary RS, or in association with other conditions, most frequently the connective tissue diseases (eg, scleroderma [DS:H01492], systemic lupus erythematosus [DS:H00080], rheumatoid arthritis [DS:H00630], and Sjogren's syndrome [DS:H01502]), often referred to as Raynaud phenomenon or secondary RS. The diagnosis is mainly clinical, based on patient descriptions of skin changes. Therapy has been focused on the use of general vasodilation strategies.",循環器疾患,,,,,,"イソクスプリン塩酸塩 [DR:D01748]
 デキサメタゾン [DR:D00292]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ヘプロニカート [DR:D01882]
 ニセリトロール [DR:D01754]
 ニコモール [DR:D01291]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ニコチン酸アミド [DR:D00036]
 ニコチン酸 [DR:D00049]",,"ICD-11: BD42
 ICD-10: I73.0
 MeSH: D011928","PMID:23618525
 著者        Landry GJ
 タイトル      Current medical and surgical management of Raynaud's syndrome.
 雑誌        J Vasc Surg 57:1710-6 (2013)
 DOI:10.1016/j.jvs.2013.03.012
 PMID:25770637
 著者        Valdovinos ST, Landry GJ
 タイトル      Raynaud syndrome.
 雑誌        Tech Vasc Interv Radiol 17:241-6 (2014)
 DOI:10.1053/j.tvir.2014.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01620"">H01620</a>","レイノー症候群
 下位グループ    レイノー病
 レイノー現象","Raynaud syndrome (RS) is characterized by episodic digital ischemia induced by cold or emotional stress. Pathophysiologic mechanisms include temporary vasospasm and fixed digital artery obstruction. Although the underlying pathophysiological mechanism is unclear, alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. RS can occur as an isolated entity, historically referred to as Raynaud disease or now primary RS, or in association with other conditions, most frequently the connective tissue diseases (eg, scleroderma [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01492],"">H01492],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:systemic"">systemic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lupus"">lupus</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:erythematosus"">erythematosus</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00080],"">H00080],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rheumatoid"">rheumatoid</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:arthritis"">arthritis</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00630],"">H00630],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Sjogren's"">Sjogren's</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01502]),"">H01502]),</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:often"">often</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:referred"">referred</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Raynaud"">Raynaud</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenomenon"">phenomenon</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:secondary"">secondary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RS."">RS.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diagnosis"">diagnosis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mainly"">mainly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical,"">clinical,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:based"">based</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patient"">patient</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:descriptions"">descriptions</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:skin"">skin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:changes."">changes.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Therapy"">Therapy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:focused"">focused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:use"">use</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:general"">general</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:vasodilation"">vasodilation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:strategies."">strategies.</a>",,,,,,"イソクスプリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01748"">D01748</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ヘプロニカート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01882"">D01882</a>]
 ニセリトロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01754"">D01754</a>]
 ニコモール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01291"">D01291</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ニコチン酸アミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00036"">D00036</a>]
 ニコチン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00049"">D00049</a>]",,"ICD-11: BD42
 ICD-10: I73.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011928"">D011928</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23618525"">23618525</a>
 著者        Landry GJ
 タイトル      Current medical and surgical management of Raynaud's syndrome.
 雑誌        J Vasc Surg 57:1710-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jvs.2013.03.012"">10.1016/j.jvs.2013.03.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25770637"">25770637</a>
 著者        Valdovinos ST, Landry GJ
 タイトル      Raynaud syndrome.
 雑誌        Tech Vasc Interv Radiol 17:241-6 (2014)
 DOI:<a href=""https://doi.org/10.1053/j.tvir.2014.11.004"">10.1053/j.tvir.2014.11.004</a>"
H01621,肺動脈性肺高血圧症,,,"Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable (HPAH, formerly familial PAH), idiopathic (IPAH), and PAH associated with a variety of other systemic diseases or drug/toxin exposures. It has been discovered that altered BMPR2 signaling is the major heritable risk factor for development of PAH, via rare variants (mutations) in the BMPR2 gene (coding for a type II receptor member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family members in the development of PAH.",循環器疾患,,"BMPR2 [HSA:659] [KO:K04671]
 ACVRL1 [HSA:94] [KO:K13594]
 ENG [HSA:2022] [KO:K06526]
 CAV1 [HSA:857] [KO:K06278]
 KCNK3 [HSA:3777] [KO:K04914]
 SMAD9 [HSA:4093] [KO:K16791]
 EIF2AK4 [HSA:440275] [KO:K16196]",,,,"エポプロステノールナトリウム [DR:D01337]
 イロプロスト [DR:D02721]
 ベラプロストナトリウム [DR:D01551]
 トレプロスチニル [DR:D06213]
 セレキシパグ [DR:D09994]
 ボセンタン水和物 [DR:D01227]
 アンブリセンタン [DR:D07077]
 マシテンタン [DR:D10135]
 リオシグアト [DR:D09572]
 シルデナフィルクエン酸塩 [DR:D02229]
 タダラフィル [DR:D02008]
 一酸化窒素 [DR:D00074]",,"ICD-11: BB01.0
 ICD-10: I27
 MeSH: D065627","PMID:25082294 (drug)
 著者        Matsubara H, Ogawa A
 タイトル      Treatment of idiopathic/hereditary pulmonary arterial hypertension.
 雑誌        J Cardiol 64:243-9 (2014)
 DOI:10.1016/j.jjcc.2014.06.009
 PMID:24951762
 著者        Lai YC, Potoka KC, Champion HC, Mora AL, Gladwin MT
 タイトル      Pulmonary arterial hypertension: the clinical syndrome.
 雑誌        Circ Res 115:115-30 (2014)
 DOI:10.1161/CIRCRESAHA.115.301146
 PMID:24355637
 著者        Soubrier F, Chung WK, Machado R, Grunig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
 タイトル      Genetics and genomics of pulmonary arterial hypertension.
 雑誌        J Am Coll Cardiol 62:D13-21 (2013)
 DOI:10.1016/j.jacc.2013.10.035
 PMID:24951767
 著者        Austin ED, Loyd JE
 タイトル      The genetics of pulmonary arterial hypertension.
 雑誌        Circ Res 115:189-202 (2014)
 DOI:10.1161/CIRCRESAHA.115.303404
 PMID:24912571 (drug)
 著者        Kylhammar D, Persson L, Hesselstrand R, Radegran G
 タイトル      Prognosis and response to first-line single and combination therapy in pulmonary arterial hypertension.
 雑誌        Scand Cardiovasc J 48:223-33 (2014)
 DOI:10.3109/14017431.2014.931595","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621"">H01621</a>",肺動脈性肺高血圧症,"Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable (HPAH, formerly familial PAH), idiopathic (IPAH), and PAH associated with a variety of other systemic diseases or drug/toxin exposures. It has been discovered that altered BMPR2 signaling is the major heritable risk factor for development of PAH, via rare variants (mutations) in the BMPR2 gene (coding for a type II receptor member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family members in the development of PAH.",,"BMPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:659"">659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04671"">K04671</a>]
 ACVRL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:94"">94</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13594"">K13594</a>]
 ENG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2022"">2022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06526"">K06526</a>]
 CAV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:857"">857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06278"">K06278</a>]
 KCNK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3777"">3777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04914"">K04914</a>]
 SMAD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4093"">4093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16791"">K16791</a>]
 EIF2AK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440275"">440275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16196"">K16196</a>]",,,,"エポプロステノールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01337"">D01337</a>]
 イロプロスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02721"">D02721</a>]
 ベラプロストナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01551"">D01551</a>]
 トレプロスチニル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06213"">D06213</a>]
 セレキシパグ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09994"">D09994</a>]
 ボセンタン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01227"">D01227</a>]
 アンブリセンタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07077"">D07077</a>]
 マシテンタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10135"">D10135</a>]
 リオシグアト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09572"">D09572</a>]
 シルデナフィルクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02229"">D02229</a>]
 タダラフィル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02008"">D02008</a>]
 一酸化窒素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00074"">D00074</a>]",,"ICD-11: BB01.0
 ICD-10: I27
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065627"">D065627</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25082294"">25082294</a> (drug)
 著者        Matsubara H, Ogawa A
 タイトル      Treatment of idiopathic/hereditary pulmonary arterial hypertension.
 雑誌        J Cardiol 64:243-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jjcc.2014.06.009"">10.1016/j.jjcc.2014.06.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24951762"">24951762</a>
 著者        Lai YC, Potoka KC, Champion HC, Mora AL, Gladwin MT
 タイトル      Pulmonary arterial hypertension: the clinical syndrome.
 雑誌        Circ Res 115:115-30 (2014)
 DOI:<a href=""https://doi.org/10.1161/CIRCRESAHA.115.301146"">10.1161/CIRCRESAHA.115.301146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24355637"">24355637</a>
 著者        Soubrier F, Chung WK, Machado R, Grunig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
 タイトル      Genetics and genomics of pulmonary arterial hypertension.
 雑誌        J Am Coll Cardiol 62:D13-21 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jacc.2013.10.035"">10.1016/j.jacc.2013.10.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24951767"">24951767</a>
 著者        Austin ED, Loyd JE
 タイトル      The genetics of pulmonary arterial hypertension.
 雑誌        Circ Res 115:189-202 (2014)
 DOI:<a href=""https://doi.org/10.1161/CIRCRESAHA.115.303404"">10.1161/CIRCRESAHA.115.303404</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24912571"">24912571</a> (drug)
 著者        Kylhammar D, Persson L, Hesselstrand R, Radegran G
 タイトル      Prognosis and response to first-line single and combination therapy in pulmonary arterial hypertension.
 雑誌        Scand Cardiovasc J 48:223-33 (2014)
 DOI:<a href=""https://doi.org/10.3109/14017431.2014.931595"">10.3109/14017431.2014.931595</a>"
H01622,慢性血栓塞栓性肺高血圧症,,,"Chronic thromboembolic pulmonary hypertension (CTEPH) is classified as group 4 pulmonary hypertension (PH) by the World Health Organization. It is a rare, but underdiagnosed, complication of acute pulmonary embolism (PE) resulting from occlusion of large pulmonary arteries with a fibrothrombotic material and in many cases, the development of a distal vessel arteriopathy that closely mimics pulmonary arterial hypertension. While the pathogenesis of CTEPH is not entirely understood, the primary pathophysiology appears to be related to an initial thrombotic event followed by both inadequate thrombus resolution and secondary arteriopathy. Several risk factors for development of CTEPH have been found, including the size of the initial PE, splenectomy, chronic inflammatory conditions, and indwelling catheters and cardiac pacemaker leads. There is however an increased incidence of elevated factor VIII levels in CTEPH, and this finding persists after treatment. However, none of these findings explain the development of CTEPH in the majority of patients affected by this disease.",循環器疾患,,,,,,"セレキシパグ [DR:D09994]
 リオシグアト [DR:D09572]",,"ICD-11: BB01.3
 ICD-10: I27.2","PMID:26739298 (drug)
 著者        Poch DS, Auger WR
 タイトル      Chronic thromboembolic pulmonary hypertension: detection, medical and surgical treatment approach, and current outcomes.
 雑誌        Heart Fail Rev 21:309-22 (2016)
 DOI:10.1007/s10741-015-9518-3
 PMID:26585271 (description, drug)
 著者        O'Connell C, Montani D, Savale L, Sitbon O, Parent F, Seferian A, Bulifon S, Fadel E, Mercier O, Mussot S, Fabre D, Dartevelle P, Humbert M, Simonneau G, Jais X
 タイトル      Chronic thromboembolic pulmonary hypertension.
 雑誌        Presse Med 44:e409-16 (2015)
 DOI:10.1016/j.lpm.2015.10.010
 PMID:27345156 (description, drug)
 著者        Robbins IM, Pugh ME, Hemnes AR
 タイトル      Update on chronic thromboembolic pulmonary hypertension.
 雑誌        Trends Cardiovasc Med 27:29-37 (2017)
 DOI:10.1016/j.tcm.2016.05.010
 PMID:26099554 (description, drug)
 著者        Witkin AS, Channick RN
 タイトル      Chronic Thromboembolic Pulmonary Hypertension: the End Result of Pulmonary Embolism.
 雑誌        Curr Cardiol Rep 17:63 (2015)
 DOI:10.1007/s11886-015-0621-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01622"">H01622</a>",慢性血栓塞栓性肺高血圧症,"Chronic thromboembolic pulmonary hypertension (CTEPH) is classified as group 4 pulmonary hypertension (PH) by the World Health Organization. It is a rare, but underdiagnosed, complication of acute pulmonary embolism (PE) resulting from occlusion of large pulmonary arteries with a fibrothrombotic material and in many cases, the development of a distal vessel arteriopathy that closely mimics pulmonary arterial hypertension. While the pathogenesis of CTEPH is not entirely understood, the primary pathophysiology appears to be related to an initial thrombotic event followed by both inadequate thrombus resolution and secondary arteriopathy. Several risk factors for development of CTEPH have been found, including the size of the initial PE, splenectomy, chronic inflammatory conditions, and indwelling catheters and cardiac pacemaker leads. There is however an increased incidence of elevated factor VIII levels in CTEPH, and this finding persists after treatment. However, none of these findings explain the development of CTEPH in the majority of patients affected by this disease.",,,,,,"セレキシパグ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09994"">D09994</a>]
 リオシグアト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09572"">D09572</a>]",,"ICD-11: BB01.3
 ICD-10: I27.2","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26739298"">26739298</a> (drug)
 著者        Poch DS, Auger WR
 タイトル      Chronic thromboembolic pulmonary hypertension: detection, medical and surgical treatment approach, and current outcomes.
 雑誌        Heart Fail Rev 21:309-22 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10741-015-9518-3"">10.1007/s10741-015-9518-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26585271"">26585271</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        O'Connell C, Montani D, Savale L, Sitbon O, Parent F, Seferian A, Bulifon S, Fadel E, Mercier O, Mussot S, Fabre D, Dartevelle P, Humbert M, Simonneau G, Jais X
 タイトル      Chronic thromboembolic pulmonary hypertension.
 雑誌        Presse Med 44:e409-16 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.lpm.2015.10.010"">10.1016/j.lpm.2015.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27345156"">27345156</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Robbins IM, Pugh ME, Hemnes AR
 タイトル      Update on chronic thromboembolic pulmonary hypertension.
 雑誌        Trends Cardiovasc Med 27:29-37 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.tcm.2016.05.010"">10.1016/j.tcm.2016.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26099554"">26099554</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Witkin AS, Channick RN
 タイトル      Chronic Thromboembolic Pulmonary Hypertension: the End Result of Pulmonary Embolism.
 雑誌        Curr Cardiol Rep 17:63 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11886-015-0621-9"">10.1007/s11886-015-0621-9</a>"
H01623,"MDPL 症候群;
 下顎低形成、難聴、早老症および脂肪萎縮症候群",,,"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause this disease.",先天奇形,,POLD1 [HSA:5424] [KO:K02327],,,,,,"ICD-11: LD2Y
 ICD-10: E34.8
 OMIM: 615381","PMID:23770608
 著者        Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT
 タイトル      An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
 雑誌        Nat Genet 45:947-50 (2013)
 DOI:10.1038/ng.2670
 PMID:26350127
 著者        Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, Angius A, Cucca F, Cottoni F, Crisponi L
 タイトル      Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
 雑誌        Metabolism 64:1530-40 (2015)
 DOI:10.1016/j.metabol.2015.07.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01623"">H01623</a>","MDPL 症候群;
 下顎低形成、難聴、早老症および脂肪萎縮症候群","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause this disease.",,"POLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5424"">5424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02327"">K02327</a>]",,,,,,"ICD-11: LD2Y
 ICD-10: E34.8
 OMIM: <a href=""https://www.omim.org/entry/615381"">615381</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23770608"">23770608</a>
 著者        Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT
 タイトル      An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
 雑誌        Nat Genet 45:947-50 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2670"">10.1038/ng.2670</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26350127"">26350127</a>
 著者        Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, Angius A, Cucca F, Cottoni F, Crisponi L
 タイトル      Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
 雑誌        Metabolism 64:1530-40 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.metabol.2015.07.022"">10.1016/j.metabol.2015.07.022</a>"
H01624,帯状疱疹後神経痛,,,"Herpes zoster (HZ) presents as a rash of 2-3 weeks duration in immunocompetent patients that is accompanied by moderate or severe pain. In some patients, pain does not resolve when the rash heals but continues for weeks and, sometimes, for months or years; this phenomenon is known as postherpetic neuralgia (PHN). PHN is the most troublesome side effect associated with HZ.",感染症,,,Human herpesvirus 3 [GN:T40078],,,ノイロトロピン [DR:D07630],See also H00366 Herpes zoster.,"ICD-11: 1E91.5
 ICD-10: B02.2 G53.0
 MeSH: D051474","PMID:26175877
 著者        Jeon YH
 タイトル      Herpes Zoster and Postherpetic Neuralgia: Practical Consideration for Prevention and Treatment.
 雑誌        Korean J Pain 28:177-84 (2015)
 DOI:10.3344/kjp.2015.28.3.177
 PMID:12652389
 著者        Dworkin RH, Schmader KE
 タイトル      Treatment and prevention of postherpetic neuralgia.
 雑誌        Clin Infect Dis 36:877-82 (2003)
 DOI:10.1086/368196","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01624"">H01624</a>",帯状疱疹後神経痛,"Herpes zoster (HZ) presents as a rash of 2-3 weeks duration in immunocompetent patients that is accompanied by moderate or severe pain. In some patients, pain does not resolve when the rash heals but continues for weeks and, sometimes, for months or years; this phenomenon is known as postherpetic neuralgia (PHN). PHN is the most troublesome side effect associated with HZ.",,,"Human herpesvirus 3 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40078"">T40078</a>]",,,"ノイロトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07630"">D07630</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00366"">H00366</a> Herpes zoster.","ICD-11: 1E91.5
 ICD-10: B02.2 G53.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D051474"">D051474</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26175877"">26175877</a>
 著者        Jeon YH
 タイトル      Herpes Zoster and Postherpetic Neuralgia: Practical Consideration for Prevention and Treatment.
 雑誌        Korean J Pain 28:177-84 (2015)
 DOI:<a href=""https://doi.org/10.3344/kjp.2015.28.3.177"">10.3344/kjp.2015.28.3.177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12652389"">12652389</a>
 著者        Dworkin RH, Schmader KE
 タイトル      Treatment and prevention of postherpetic neuralgia.
 雑誌        Clin Infect Dis 36:877-82 (2003)
 DOI:<a href=""https://doi.org/10.1086/368196"">10.1086/368196</a>"
H01625,"バージャー病;
 ビュルガー病;
 閉塞性血栓血管炎
 上位グループ    慢性動脈閉塞症 [DS:H01629]",,,"Buerger disease, also known as thromboangiitis obliterans, is a nonatherosclerotic, inflammatory disease that most commonly affects the small and medium-sized arteries and veins in the upper and lower extremities. Cigarette smoking has been implicated as the main etiology of the disease. Although Buerger's disease has a worldwide distribution, it is more prevalent in the Middle East and Far East and classically develops in male smokers younger than 45 years. There may be a predisposition to development of Buerger's disease, although no gene has been identified to date. The most common symptom is pain at rest and claudication in the affected hands or feet. Other symptoms include cold insensitivity, diminished peripheral pulses, cyanosis, skin atrophy, and reduced hair growth. As the disease progresses, patients will develop ischemic ulcerations and eventually gangrene. Abstinence from smoking is the definitive treatment to prevent disease progression. Medical line of treatment with vasodilators, pentoxyfylline, and cilostazol may help improve pain-free walking distance but cannot prevent disease progression. Surgical treatment in form of revascularization and sympathectomy increases peripheral blood flow and decreases the rate of amputations. Newer therapy with prostaglandins, bosentan, and stem cell therapy has shown promising results.",脈管疾患,,,,Cigarette smoking,,"イソクスプリン塩酸塩 [DR:D01748]
 ヘプロニカート [DR:D01882]
 ニセリトロール [DR:D01754]
 アルガトロバン水和物 [DR:D00181]
 アルプロスタジル [DR:D00180]
 アルプロスタジル アルファデクス [DR:D02705]
 リマプロストアルファデクス [DR:D02860]
 幼牛血液抽出物 [DR:D04372]
 カリジノゲナーゼ [DR:D03330]
 バトロキソビン [DR:D03352]
 ベペルミノゲンペルプラスミド [DR:D09839]",,"ICD-11: 4A44.8
 ICD-10: I73.1
 MeSH: D013919
 OMIM: 211480","PMID:27144003
 著者        Rivera-Chavarria IJ, Brenes-Gutierrez JD
 タイトル      Thromboangiitis obliterans (Buerger's disease).
 雑誌        Ann Med Surg (Lond) 7:79-82 (2016)
 DOI:10.1016/j.amsu.2016.03.028
 PMID:25987945
 著者        Sinclair NR, Laub DR
 タイトル      Thromboangiitis Obliterans (Buerger's Disease).
 雑誌        Eplasty 15:ic22 (2015)
 PMID:24102033 (drug)
 著者        Vijayakumar A, Tiwari R, Kumar Prabhuswamy V
 タイトル      Thromboangiitis Obliterans (Buerger's Disease)-Current Practices.
 雑誌        Int J Inflam 2013:156905 (2013)
 DOI:10.1155/2013/156905","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01625"">H01625</a>","バージャー病;
 ビュルガー病;
 閉塞性血栓血管炎
 上位グループ    慢性動脈閉塞症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01629"">H01629</a>]","Buerger disease, also known as thromboangiitis obliterans, is a nonatherosclerotic, inflammatory disease that most commonly affects the small and medium-sized arteries and veins in the upper and lower extremities. Cigarette smoking has been implicated as the main etiology of the disease. Although Buerger's disease has a worldwide distribution, it is more prevalent in the Middle East and Far East and classically develops in male smokers younger than 45 years. There may be a predisposition to development of Buerger's disease, although no gene has been identified to date. The most common symptom is pain at rest and claudication in the affected hands or feet. Other symptoms include cold insensitivity, diminished peripheral pulses, cyanosis, skin atrophy, and reduced hair growth. As the disease progresses, patients will develop ischemic ulcerations and eventually gangrene. Abstinence from smoking is the definitive treatment to prevent disease progression. Medical line of treatment with vasodilators, pentoxyfylline, and cilostazol may help improve pain-free walking distance but cannot prevent disease progression. Surgical treatment in form of revascularization and sympathectomy increases peripheral blood flow and decreases the rate of amputations. Newer therapy with prostaglandins, bosentan, and stem cell therapy has shown promising results.",,,,Cigarette smoking,,"イソクスプリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01748"">D01748</a>]
 ヘプロニカート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01882"">D01882</a>]
 ニセリトロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01754"">D01754</a>]
 アルガトロバン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00181"">D00181</a>]
 アルプロスタジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00180"">D00180</a>]
 アルプロスタジル アルファデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02705"">D02705</a>]
 リマプロストアルファデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02860"">D02860</a>]
 幼牛血液抽出物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04372"">D04372</a>]
 カリジノゲナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03330"">D03330</a>]
 バトロキソビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03352"">D03352</a>]
 ベペルミノゲンペルプラスミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09839"">D09839</a>]",,"ICD-11: 4A44.8
 ICD-10: I73.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013919"">D013919</a>
 OMIM: <a href=""https://www.omim.org/entry/211480"">211480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27144003"">27144003</a>
 著者        Rivera-Chavarria IJ, Brenes-Gutierrez JD
 タイトル      Thromboangiitis obliterans (Buerger's disease).
 雑誌        Ann Med Surg (Lond) 7:79-82 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.amsu.2016.03.028"">10.1016/j.amsu.2016.03.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25987945"">25987945</a>
 著者        Sinclair NR, Laub DR
 タイトル      Thromboangiitis Obliterans (Buerger's Disease).
 雑誌        Eplasty 15:ic22 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24102033"">24102033</a> (drug)
 著者        Vijayakumar A, Tiwari R, Kumar Prabhuswamy V
 タイトル      Thromboangiitis Obliterans (Buerger's Disease)-Current Practices.
 雑誌        Int J Inflam 2013:156905 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/156905"">10.1155/2013/156905</a>"
H01626,"閉塞性動脈硬化症
 上位グループ    慢性動脈閉塞症 [DS:H01629]",,,"Arteriosclerosis obliterans (ASO) is one of the most common peripheral vascular diseases that causes ischemic symptoms of the lower limbs. Symptoms include discomfort, numbness, intermittent claudication, or even gangrene and ulceration. The risk factors of ASO include age, male gender, smoking, hypertension, hyperlipidemia, diabetes mellitus, chronic renal failure, and hyperhomocysteinemia. There are no definitive treatments for ASO. The efficacy of surgical treatment is not satisfactory, and medication is required to maintain the postoperative vascular patency. In order to relieve symptoms such as cold sensation and intermittent claudication, drug therapy such as antiplatelet therapy and vasodilatory drugs are useful in the treatment of some patients with ASO. Adsorption of low-density lipoprotein (LDL) has also been applied for the treatment of ASO. At present, the diagnosis of ASO depends on several clinical tests, such as angiography, estimations of ankle/brachial index (ABI), and pulse-wave velocity (PWV), as well as the measurement of circulating hs-CRP levels. However, these examinations can only be detectable when ASO already developed, and there was no predictable markers for ASO in its earlier stages. Recent studies have reported that some micro RNAs could be serum markers for early-stage ASO.",脈管疾患,,,,Cigarette smoking,,"イソクスプリン塩酸塩 [DR:D01748]
 ヘプロニカート [DR:D01882]
 ニセリトロール [DR:D01754]
 ニコモール [DR:D01291]
 イコサペント酸エチル [DR:D01892]
 トコフェロールニコチン酸エステル [DR:D01530]
 アルガトロバン水和物 [DR:D00181]
 アルプロスタジル [DR:D00180]
 アルプロスタジル アルファデクス [DR:D02705]
 バトロキソビン [DR:D03352]
 ベペルミノゲンペルプラスミド [DR:D09839]",,"ICD-11: BD40
 ICD-10: I70
 MeSH: D001162","PMID:26632166
 著者        Horie T, Kimura T, Ono K
 タイトル      Emerging Novel Biomarkers for Arteriosclerosis Obliterans.
 雑誌        J Atheroscler Thromb 23:171-2 (2016)
 DOI:10.5551/jat.ED028
 PMID:23364237
 著者        Ren S, Qian S, Wang W, Liu J, Liu P
 タイトル      Prospective study of sarpogrelate hydrochloride on patients with arteriosclerosis obliterans.
 雑誌        Ann Thorac Cardiovasc Surg 19:30-4 (2013)
 DOI:10.5761/atcs.oa.12.02061
 PMID:26370316
 著者        He XM, Zheng YQ, Liu SZ, Liu Y, He YZ, Zhou XY
 タイトル      Altered Plasma MicroRNAs as Novel Biomarkers for Arteriosclerosis Obliterans.
 雑誌        J Atheroscler Thromb 23:196-206 (2016)
 DOI:10.5551/jat.30775
 PMID:26272221 (drug)
 著者        Mathur P, Ding Z, Saldeen T, Mehta JL
 タイトル      Tocopherols in the Prevention and Treatment of Atherosclerosis and Related Cardiovascular Disease.
 雑誌        Clin Cardiol 38:570-6 (2015)
 DOI:10.1002/clc.22422
 PMID:23749750 (drug)
 著者        Arai T
 タイトル      Long-term effects of beraprost sodium on arteriosclerosis obliterans: a single-center retrospective study of Japanese patients.
 雑誌        Adv Ther 30:528-40 (2013)
 DOI:10.1007/s12325-013-0030-7
 PMID:22142554 (drug)
 著者        Squires H, Simpson E, Meng Y, Harnan S, Stevens J, Wong R, Thomas S, Michaels J, Stansby G
 タイトル      A systematic review and economic evaluation of cilostazol, naftidrofuryl oxalate, pentoxifylline and inositol nicotinate for the treatment of intermittent claudication in people with peripheral arterial disease.
 雑誌        Health Technol Assess 15:1-210 (2011)
 DOI:10.3310/hta15400
 PMID:12886046
 著者        Nakamura T, Kawagoe Y, Matsuda T, Takahashi Y, Sekizuka K, Ebihara I, Koide H
 タイトル      Effects of LDL apheresis and vitamin E-modified membrane on carotid atherosclerosis in hemodialyzed patients with arteriosclerosis obliterans.
 雑誌        Kidney Blood Press Res 26:185-91 (2003)
 DOI:10.1159/000071884","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01626"">H01626</a>","閉塞性動脈硬化症
 上位グループ    慢性動脈閉塞症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01629"">H01629</a>]","Arteriosclerosis obliterans (ASO) is one of the most common peripheral vascular diseases that causes ischemic symptoms of the lower limbs. Symptoms include discomfort, numbness, intermittent claudication, or even gangrene and ulceration. The risk factors of ASO include age, male gender, smoking, hypertension, hyperlipidemia, diabetes mellitus, chronic renal failure, and hyperhomocysteinemia. There are no definitive treatments for ASO. The efficacy of surgical treatment is not satisfactory, and medication is required to maintain the postoperative vascular patency. In order to relieve symptoms such as cold sensation and intermittent claudication, drug therapy such as antiplatelet therapy and vasodilatory drugs are useful in the treatment of some patients with ASO. Adsorption of low-density lipoprotein (LDL) has also been applied for the treatment of ASO. At present, the diagnosis of ASO depends on several clinical tests, such as angiography, estimations of ankle/brachial index (ABI), and pulse-wave velocity (PWV), as well as the measurement of circulating hs-CRP levels. However, these examinations can only be detectable when ASO already developed, and there was no predictable markers for ASO in its earlier stages. Recent studies have reported that some micro RNAs could be serum markers for early-stage ASO.",,,,Cigarette smoking,,"イソクスプリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01748"">D01748</a>]
 ヘプロニカート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01882"">D01882</a>]
 ニセリトロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01754"">D01754</a>]
 ニコモール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01291"">D01291</a>]
 イコサペント酸エチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01892"">D01892</a>]
 トコフェロールニコチン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01530"">D01530</a>]
 アルガトロバン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00181"">D00181</a>]
 アルプロスタジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00180"">D00180</a>]
 アルプロスタジル アルファデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02705"">D02705</a>]
 バトロキソビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03352"">D03352</a>]
 ベペルミノゲンペルプラスミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09839"">D09839</a>]",,"ICD-11: BD40
 ICD-10: I70
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001162"">D001162</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26632166"">26632166</a>
 著者        Horie T, Kimura T, Ono K
 タイトル      Emerging Novel Biomarkers for Arteriosclerosis Obliterans.
 雑誌        J Atheroscler Thromb 23:171-2 (2016)
 DOI:<a href=""https://doi.org/10.5551/jat.ED028"">10.5551/jat.ED028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23364237"">23364237</a>
 著者        Ren S, Qian S, Wang W, Liu J, Liu P
 タイトル      Prospective study of sarpogrelate hydrochloride on patients with arteriosclerosis obliterans.
 雑誌        Ann Thorac Cardiovasc Surg 19:30-4 (2013)
 DOI:<a href=""https://doi.org/10.5761/atcs.oa.12.02061"">10.5761/atcs.oa.12.02061</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26370316"">26370316</a>
 著者        He XM, Zheng YQ, Liu SZ, Liu Y, He YZ, Zhou XY
 タイトル      Altered Plasma MicroRNAs as Novel Biomarkers for Arteriosclerosis Obliterans.
 雑誌        J Atheroscler Thromb 23:196-206 (2016)
 DOI:<a href=""https://doi.org/10.5551/jat.30775"">10.5551/jat.30775</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26272221"">26272221</a> (drug)
 著者        Mathur P, Ding Z, Saldeen T, Mehta JL
 タイトル      Tocopherols in the Prevention and Treatment of Atherosclerosis and Related Cardiovascular Disease.
 雑誌        Clin Cardiol 38:570-6 (2015)
 DOI:<a href=""https://doi.org/10.1002/clc.22422"">10.1002/clc.22422</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23749750"">23749750</a> (drug)
 著者        Arai T
 タイトル      Long-term effects of beraprost sodium on arteriosclerosis obliterans: a single-center retrospective study of Japanese patients.
 雑誌        Adv Ther 30:528-40 (2013)
 DOI:<a href=""https://doi.org/10.1007/s12325-013-0030-7"">10.1007/s12325-013-0030-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22142554"">22142554</a> (drug)
 著者        Squires H, Simpson E, Meng Y, Harnan S, Stevens J, Wong R, Thomas S, Michaels J, Stansby G
 タイトル      A systematic review and economic evaluation of cilostazol, naftidrofuryl oxalate, pentoxifylline and inositol nicotinate for the treatment of intermittent claudication in people with peripheral arterial disease.
 雑誌        Health Technol Assess 15:1-210 (2011)
 DOI:<a href=""https://doi.org/10.3310/hta15400"">10.3310/hta15400</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12886046"">12886046</a>
 著者        Nakamura T, Kawagoe Y, Matsuda T, Takahashi Y, Sekizuka K, Ebihara I, Koide H
 タイトル      Effects of LDL apheresis and vitamin E-modified membrane on carotid atherosclerosis in hemodialyzed patients with arteriosclerosis obliterans.
 雑誌        Kidney Blood Press Res 26:185-91 (2003)
 DOI:<a href=""https://doi.org/10.1159/000071884"">10.1159/000071884</a>"
H01628,"オピストルキス症
 上位グループ    食物媒介吸虫類感染症 [DS:H01617]",,,"Opisthorchiasis comprises diverse clinical symptoms caused by infections with Opisthorchis felineus or Opisthorchis viverrini liver flukes, which are transmitted by eating infected raw or undercooked fish and other aquatic products.",感染症,,,"Opisthorchis viverrini [GN:ovi]
 Opisthorchis felineus",,,,"The first intermediate hosts: prosobranch gastropod genus Bithynia
 The second intermediate hosts: freshwater fish, mostly cyprinoids","ICD-11: 1F84
 ICD-10: B66.0
 MeSH: D009889","PMID:24520562
 著者        Wunderink HF, Rozemeijer W, Wever PC, Verweij JJ, van Lieshout L
 タイトル      Foodborne trematodiasis and Opisthorchis felineus acquired in Italy.
 雑誌        Emerg Infect Dis 20:154-5 (2014)
 DOI:10.3201/eid2001.130476
 PMID:20655862
 著者        Sripa B, Bethony JM, Sithithaworn P, Kaewkes S, Mairiang E, Loukas A, Mulvenna J, Laha T, Hotez PJ, Brindley PJ
 タイトル      Opisthorchiasis and Opisthorchis-associated cholangiocarcinoma in Thailand and Laos.
 雑誌        Acta Trop 120 Suppl 1:S158-68 (2011)
 DOI:10.1016/j.actatropica.2010.07.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01628"">H01628</a>","オピストルキス症
 上位グループ    食物媒介吸虫類感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01617"">H01617</a>]","Opisthorchiasis comprises diverse clinical symptoms caused by infections with Opisthorchis felineus or Opisthorchis viverrini liver flukes, which are transmitted by eating infected raw or undercooked fish and other aquatic products.",,,"Opisthorchis viverrini [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:ovi"">ovi</a>]
 Opisthorchis felineus",,,,"The first intermediate hosts: prosobranch gastropod genus Bithynia
 The second intermediate hosts: freshwater fish, mostly cyprinoids","ICD-11: 1F84
 ICD-10: B66.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009889"">D009889</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24520562"">24520562</a>
 著者        Wunderink HF, Rozemeijer W, Wever PC, Verweij JJ, van Lieshout L
 タイトル      Foodborne trematodiasis and Opisthorchis felineus acquired in Italy.
 雑誌        Emerg Infect Dis 20:154-5 (2014)
 DOI:<a href=""https://doi.org/10.3201/eid2001.130476"">10.3201/eid2001.130476</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20655862"">20655862</a>
 著者        Sripa B, Bethony JM, Sithithaworn P, Kaewkes S, Mairiang E, Loukas A, Mulvenna J, Laha T, Hotez PJ, Brindley PJ
 タイトル      Opisthorchiasis and Opisthorchis-associated cholangiocarcinoma in Thailand and Laos.
 雑誌        Acta Trop 120 Suppl 1:S158-68 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2010.07.006"">10.1016/j.actatropica.2010.07.006</a>"
H01629,"慢性動脈閉塞症
 下位グループ    閉塞性動脈硬化症 [DS:H01626]
 バージャー病 [DS:H01625]",,,"Chronic arterial occlusive disease is a highly prevalent peripheral vascular disorder. This disease is caused by arteriosclerosis obliterans (ASO), thromboangiitis obliterans (Buerger's disease), primary arterial thrombosis, embolism and so on. Of these, ASO is the most frequently encountered. Although differing clinically and pathologically, these diseases are similar in that they cause ischemia of tissues. The symptoms of chronic occlusive arterial disease result from impairment of blood flow to the extremities. Intermittent claudication is the commonest and usually the earliest symptom.",脈管疾患,,,,,,"ベラプロストナトリウム [DR:D01551]
 アルガトロバン水和物 [DR:D00181]
 アルプロスタジル [DR:D00180]
 アルプロスタジル アルファデクス [DR:D02705]
 チクロピジン塩酸塩 [DR:D01028]
 シロスタゾール [DR:D01896]
 サルポグレラート塩酸塩 [DR:D01624]
 バトロキソビン [DR:D03352]
 ベペルミノゲンペルプラスミド [DR:D09839]",See also H01625 Buerger's disease and H01626 Arteriosclerosis obliterans.,"ICD-11: BD40 BD41 BD42
 ICD-10: I74
 MeSH: D001157","PMID:14042045
 著者        JUERGENS JL
 タイトル      Chronic occlusive arterial disease of the extremities.
 雑誌        Circulation 27:964-9 (1963)
 DOI:10.1161/01.CIR.27.5.964
 PMID:21115876
 著者        Idei N, Nishioka K, Soga J, Hidaka T, Hata T, Fujii Y, Fujimura N, Maruhashi T, Mikami S, Teragawa H, Kihara Y, Noma K, Chayama K, Higashi Y
 タイトル      Vascular function and circulating progenitor cells in thromboangitis obliterans (Buerger's disease) and atherosclerosis obliterans.
 雑誌        Hypertension 57:70-8 (2011)
 DOI:10.1161/HYPERTENSIONAHA.110.163683
 PMID:10908215 (drug)
 著者        Lievre M, Morand S, Besse B, Fiessinger JN, Boissel JP
 タイトル      Oral Beraprost sodium, a prostaglandin I(2) analogue, for intermittent claudication: a double-blind, randomized, multicenter controlled trial. Beraprost et Claudication Intermittente (BERCI) Research Group.
 雑誌        Circulation 102:426-31 (2000)
 DOI:10.1161/01.CIR.102.4.426","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01629"">H01629</a>","慢性動脈閉塞症
 下位グループ    閉塞性動脈硬化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01626"">H01626</a>]
 バージャー病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01625"">H01625</a>]","Chronic arterial occlusive disease is a highly prevalent peripheral vascular disorder. This disease is caused by arteriosclerosis obliterans (ASO), thromboangiitis obliterans (Buerger's disease), primary arterial thrombosis, embolism and so on. Of these, ASO is the most frequently encountered. Although differing clinically and pathologically, these diseases are similar in that they cause ischemia of tissues. The symptoms of chronic occlusive arterial disease result from impairment of blood flow to the extremities. Intermittent claudication is the commonest and usually the earliest symptom.",,,,,,"ベラプロストナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01551"">D01551</a>]
 アルガトロバン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00181"">D00181</a>]
 アルプロスタジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00180"">D00180</a>]
 アルプロスタジル アルファデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02705"">D02705</a>]
 チクロピジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01028"">D01028</a>]
 シロスタゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01896"">D01896</a>]
 サルポグレラート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01624"">D01624</a>]
 バトロキソビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03352"">D03352</a>]
 ベペルミノゲンペルプラスミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09839"">D09839</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01625"">H01625</a> Buerger's disease and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01626"">H01626</a> Arteriosclerosis obliterans.","ICD-11: BD40 BD41 BD42
 ICD-10: I74
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001157"">D001157</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14042045"">14042045</a>
 著者        JUERGENS JL
 タイトル      Chronic occlusive arterial disease of the extremities.
 雑誌        Circulation 27:964-9 (1963)
 DOI:<a href=""https://doi.org/10.1161/01.CIR.27.5.964"">10.1161/01.CIR.27.5.964</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21115876"">21115876</a>
 著者        Idei N, Nishioka K, Soga J, Hidaka T, Hata T, Fujii Y, Fujimura N, Maruhashi T, Mikami S, Teragawa H, Kihara Y, Noma K, Chayama K, Higashi Y
 タイトル      Vascular function and circulating progenitor cells in thromboangitis obliterans (Buerger's disease) and atherosclerosis obliterans.
 雑誌        Hypertension 57:70-8 (2011)
 DOI:<a href=""https://doi.org/10.1161/HYPERTENSIONAHA.110.163683"">10.1161/HYPERTENSIONAHA.110.163683</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10908215"">10908215</a> (drug)
 著者        Lievre M, Morand S, Besse B, Fiessinger JN, Boissel JP
 タイトル      Oral Beraprost sodium, a prostaglandin I(2) analogue, for intermittent claudication: a double-blind, randomized, multicenter controlled trial. Beraprost et Claudication Intermittente (BERCI) Research Group.
 雑誌        Circulation 102:426-31 (2000)
 DOI:<a href=""https://doi.org/10.1161/01.CIR.102.4.426"">10.1161/01.CIR.102.4.426</a>"
H01630,動脈管開存症,,,"Patent ductus arteriosus (PDA) is a common congenital heart defect with both inherited and acquired causes. The ductus arteriosus (DA) is a fetal specific vascular connection between the main pulmonary artery and the aorta. After birth, the DA normally closes within the first several days of life. If present after the age of 3 month, this condition is known as PDA. PDA can cause significant problems, especially in premature infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize the risk of these complications. Prostaglandin inhibition using indomethacin or ibuprofen is the standard strategy to close the DA. Surgical closure of the DA is an alternative option. Autosomal dominant forms of PDA caused by mutation in the TFAP2B and PRDM6 gene have been reported.",先天奇形,,"(PDA2) TFAP2B [HSA:7021] [KO:K09176]
 (PDA3) PRDM6 [HSA:93166] [KO:K20795]",,,,"インドメタシンナトリウム水和物 [DR:D02110]
 イブプロフェンL-リシン [DR:D06606]",,"ICD-11: LA8B.4
 ICD-10: Q25.0
 MeSH: D004374
 OMIM: 607411 617035 617039","PMID:23316351
 著者        Olsson KW, Jonzon A, Sindelar R
 タイトル      A high ductal flow velocity is associated with successful pharmacological closure of patent ductus arteriosus in infants 22-27 weeks gestational age.
 雑誌        Crit Care Res Pract 2012:715265 (2012)
 DOI:10.1155/2012/715265
 PMID:27181681
 著者        Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A
 タイトル      Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
 雑誌        Am J Hum Genet 98:1082-91 (2016)
 DOI:10.1016/j.ajhg.2016.03.022
 PMID:24507797
 著者        Ji W, Benson MA, Bhattacharya S, Chen Y, Hu J, Li F
 タイトル      Characterization of transcription factor AP-2 beta mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
 雑誌        J Surg Res 188:466-72 (2014)
 DOI:10.1016/j.jss.2014.01.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01630"">H01630</a>",動脈管開存症,"Patent ductus arteriosus (PDA) is a common congenital heart defect with both inherited and acquired causes. The ductus arteriosus (DA) is a fetal specific vascular connection between the main pulmonary artery and the aorta. After birth, the DA normally closes within the first several days of life. If present after the age of 3 month, this condition is known as PDA. PDA can cause significant problems, especially in premature infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize the risk of these complications. Prostaglandin inhibition using indomethacin or ibuprofen is the standard strategy to close the DA. Surgical closure of the DA is an alternative option. Autosomal dominant forms of PDA caused by mutation in the TFAP2B and PRDM6 gene have been reported.",,"(PDA2) TFAP2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7021"">7021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09176"">K09176</a>]
 (PDA3) PRDM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93166"">93166</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20795"">K20795</a>]",,,,"インドメタシンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02110"">D02110</a>]
 イブプロフェンL-リシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06606"">D06606</a>]",,"ICD-11: LA8B.4
 ICD-10: Q25.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004374"">D004374</a>
 OMIM: <a href=""https://www.omim.org/entry/607411"">607411</a> <a href=""https://www.omim.org/entry/617035"">617035</a> <a href=""https://www.omim.org/entry/617039"">617039</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23316351"">23316351</a>
 著者        Olsson KW, Jonzon A, Sindelar R
 タイトル      A high ductal flow velocity is associated with successful pharmacological closure of patent ductus arteriosus in infants 22-27 weeks gestational age.
 雑誌        Crit Care Res Pract 2012:715265 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/715265"">10.1155/2012/715265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27181681"">27181681</a>
 著者        Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A
 タイトル      Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
 雑誌        Am J Hum Genet 98:1082-91 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.022"">10.1016/j.ajhg.2016.03.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24507797"">24507797</a>
 著者        Ji W, Benson MA, Bhattacharya S, Chen Y, Hu J, Li F
 タイトル      Characterization of transcription factor AP-2 beta mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
 雑誌        J Surg Res 188:466-72 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jss.2014.01.015"">10.1016/j.jss.2014.01.015</a>"
H01631,急性心不全,,,"Acute heart failure (AHF) can be defined as a heterogeneous syndrome of signs and symptoms of new-onset or gradual/rapidly worsening heart failure (HF), requiring urgent therapy. Intrinsic cardiac abnormalities and comorbid conditions, including lung and renal disease, and sleep-disordered breathing, can contribute to the development of AHF. Factors triggering AHF may include ischemia, hypertension, arrhythmias, noncardiac comorbidities, and administered drugs, etc. Because of the poor clinical outcome and the relevant associated morbidity and mortality, it remains a major public health issue with a substantial socioeconomic burden.",循環器疾患,,,,,,"ミルリノン [DR:D00417]
 ピモベンダン [DR:D01133]
 コルホルシンダロパート塩酸塩 [DR:D01697]
 オルプリノン塩酸塩水和物 [DR:D02042]
 ニトログリセリン [DR:D00515]
 ニトロプルシドナトリウム水和物 [DR:D00614]
 ニカルジピン塩酸塩 [DR:D00617]
 硝酸イソソルビド [DR:D00516]
 ニコランジル [DR:D01810]
 カルペリチド [DR:D03328]",,"ICD-11: BD1Y
 ICD-10: I11 I13 I43 I50 I51 P29
 MeSH: D006333","PMID:26370473
 著者        Mentz RJ, O'Connor CM
 タイトル      Pathophysiology and clinical evaluation of acute heart failure.
 雑誌        Nat Rev Cardiol 13:28-35 (2016)
 DOI:10.1038/nrcardio.2015.134
 PMID:25743769
 著者        Ponikowski P, Jankowska EA
 タイトル      Pathogenesis and clinical presentation of acute heart failure.
 雑誌        Rev Esp Cardiol (Engl Ed) 68:331-7 (2015)
 DOI:10.1016/j.rec.2015.02.001
 PMID:23644993 (marker)
 著者        Chowdhury P, Kehl D, Choudhary R, Maisel A
 タイトル      The use of biomarkers in the patient with heart failure.
 雑誌        Curr Cardiol Rep 15:372 (2013)
 DOI:10.1007/s11886-013-0372-4
 PMID:26088867 (drug)
 著者        Di Somma S, Magrini L
 タイトル      Drug Therapy for Acute Heart Failure.
 雑誌        Rev Esp Cardiol (Engl Ed) 68:706-13 (2015)
 DOI:10.1016/j.rec.2015.02.019
 PMID:23863875 (drug)
 著者        Poss J, Link A, Bohm M
 タイトル      Pharmacological treatment of acute heart failure: current treatment and new targets.
 雑誌        Clin Pharmacol Ther 94:499-508 (2013)
 DOI:10.1038/clpt.2013.136","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01631"">H01631</a>",急性心不全,"Acute heart failure (AHF) can be defined as a heterogeneous syndrome of signs and symptoms of new-onset or gradual/rapidly worsening heart failure (HF), requiring urgent therapy. Intrinsic cardiac abnormalities and comorbid conditions, including lung and renal disease, and sleep-disordered breathing, can contribute to the development of AHF. Factors triggering AHF may include ischemia, hypertension, arrhythmias, noncardiac comorbidities, and administered drugs, etc. Because of the poor clinical outcome and the relevant associated morbidity and mortality, it remains a major public health issue with a substantial socioeconomic burden.",,,,,,"ミルリノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00417"">D00417</a>]
 ピモベンダン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01133"">D01133</a>]
 コルホルシンダロパート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01697"">D01697</a>]
 オルプリノン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02042"">D02042</a>]
 ニトログリセリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00515"">D00515</a>]
 ニトロプルシドナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00614"">D00614</a>]
 ニカルジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00617"">D00617</a>]
 硝酸イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00516"">D00516</a>]
 ニコランジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01810"">D01810</a>]
 カルペリチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03328"">D03328</a>]",,"ICD-11: BD1Y
 ICD-10: I11 I13 I43 I50 I51 P29
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006333"">D006333</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26370473"">26370473</a>
 著者        Mentz RJ, O'Connor CM
 タイトル      Pathophysiology and clinical evaluation of acute heart failure.
 雑誌        Nat Rev Cardiol 13:28-35 (2016)
 DOI:<a href=""https://doi.org/10.1038/nrcardio.2015.134"">10.1038/nrcardio.2015.134</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25743769"">25743769</a>
 著者        Ponikowski P, Jankowska EA
 タイトル      Pathogenesis and clinical presentation of acute heart failure.
 雑誌        Rev Esp Cardiol (Engl Ed) 68:331-7 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.rec.2015.02.001"">10.1016/j.rec.2015.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23644993"">23644993</a> (marker)
 著者        Chowdhury P, Kehl D, Choudhary R, Maisel A
 タイトル      The use of biomarkers in the patient with heart failure.
 雑誌        Curr Cardiol Rep 15:372 (2013)
 DOI:<a href=""https://doi.org/10.1007/s11886-013-0372-4"">10.1007/s11886-013-0372-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26088867"">26088867</a> (drug)
 著者        Di Somma S, Magrini L
 タイトル      Drug Therapy for Acute Heart Failure.
 雑誌        Rev Esp Cardiol (Engl Ed) 68:706-13 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.rec.2015.02.019"">10.1016/j.rec.2015.02.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23863875"">23863875</a> (drug)
 著者        Poss J, Link A, Bohm M
 タイトル      Pharmacological treatment of acute heart failure: current treatment and new targets.
 雑誌        Clin Pharmacol Ther 94:499-508 (2013)
 DOI:<a href=""https://doi.org/10.1038/clpt.2013.136"">10.1038/clpt.2013.136</a>"
H01632,狭心症,,,"Angina pectoris is defined as cardiac-induced pain arising from a lack of myocardial oxygen. ""Angina"" is used to describe clinical symptoms such as discomfort in the chest, jaw, shoulder, back, or arms that are induced by physical exertion or emotional stress and subside with rest or treatment with nitroglycerin. Angina is clinically classified into stable angina (SA) and unstable angina (UA). SA is a chronic medical condition while UA is an acute coronary syndrome. Among the causes of angina pectoris, the most common is coronary artery disease (CAD). At the cellular level, angina pectoris is a result of increased myocardial oxygen demand or decreased myocardial oxygen supply.",循環器疾患,,,,,,"カルテオロール塩酸塩 [DR:D00599]
 ベタキソロール塩酸塩 [DR:D00598]
 ニプラジロール [DR:D01691]
 アミノフィリン水和物 [DR:D05429]
 ピンドロール [DR:D00513]
 プロプラノロール塩酸塩 [DR:D00483]
 ナドロール [DR:D00432]
 メトプロロール酒石酸塩 [DR:D00601]
 アテノロール [DR:D00235]
 アセブトロール塩酸塩 [DR:D00597]
 ビソプロロールフマル酸塩 [DR:D00634]
 アロチノロール塩酸塩 [DR:D01830]
 ベラパミル塩酸塩 [DR:D00619]
 ベプリジル塩酸塩水和物 [DR:D00631]
 ニトログリセリン [DR:D00515]
 セリプロロール塩酸塩 [DR:D01741]
 カルベジロール [DR:D00255]
 エホニジピン塩酸塩エタノール付加物 [DR:D01604]
 硝酸イソソルビド [DR:D00516]
 一硝酸イソソルビド [DR:D00630]
 ジラゼプ塩酸塩水和物 [DR:D02631]
 トラピジル [DR:D01220]
 ニコランジル [DR:D01810]
 ジルチアゼム塩酸塩 [DR:D00616]
 アムロジピンベシル酸塩 [DR:D00615]
 ニフェジピン [DR:D00437]
 ニトレンジピン [DR:D00629]
 ベニジピン塩酸塩 [DR:D02045]
 亜硝酸アミル [DR:D00517]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:D08488]
 プラスグレル塩酸塩 [DR:D05597]
 クロピドグレル硫酸塩・アスピリン [DR:D10513]
 アスピリン・ランソプラゾール [DR:D10527]",,"ICD-11: BA40
 ICD-10: I20
 MeSH: D000787","PMID:20693568
 著者        Tobin KJ
 タイトル      Stable angina pectoris: what does the current clinical evidence tell us?
 雑誌        J Am Osteopath Assoc 110:364-70 (2010)
 著者        Albrecht S.
 タイトル      The pathophysiology and treatment of stable angina pectoris.
 雑誌        US Pharm 38:43-60 (2013)
 PMID:10631280 (drug, marker)
 著者        Yeghiazarians Y, Braunstein JB, Askari A, Stone PH
 タイトル      Unstable angina pectoris.
 雑誌        N Engl J Med 342:101-14 (2000)
 DOI:10.1056/NEJM200001133420207
 PMID:20384546 (drug)
 著者        Fernandez SF, Tandar A, Boden WE
 タイトル      Emerging medical treatment for angina pectoris.
 雑誌        Expert Opin Emerg Drugs 15:283-98 (2010)
 DOI:10.1517/14728210903544482
 PMID:14570861 (drug)
 著者        Aronow WS
 タイトル      Treatment of unstable angina pectoris/non-ST-segment elevation myocardial infarction in elderly patients.
 雑誌        J Gerontol A Biol Sci Med Sci 58:M927-33 (2003)
 DOI:10.1093/gerona/58.10.m927
 PMID:24416066
 著者        Mao C, Chung VC, Yuan JQ, Yu YY, Yang ZY, Wu XY, Tang JL
 タイトル      Evaluation of the add-on effect of chinese patent medicine for patients with stable or unstable angina: a systematic review and meta-analysis.
 雑誌        Evid Based Complement Alternat Med 2013:673193 (2013)
 DOI:10.1155/2013/673193
 PMID:25039022
 著者        Andrikopoulos G, Parissis J, Filippatos G, Nikolaou M, Pantos K, Voudris V, Karvounis H, Alexopoulos D, Goudevenos J
 タイトル      Medical management of stable angina.
 雑誌        Hellenic J Cardiol 55:272-80 (2014)
 PMID:15771924 (marker)
 著者        Jordanova N, Gyongyosi M, Khorsand A, Falkensammer C, Zorn G, Wojta J, Anvari A, Huber K
 タイトル      New cut-off values of cardiac markers for risk stratification of angina pectoris.
 雑誌        Int J Cardiol 99:429-35 (2005)
 DOI:10.1016/j.ijcard.2004.03.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01632"">H01632</a>",狭心症,"Angina pectoris is defined as cardiac-induced pain arising from a lack of myocardial oxygen. ""Angina"" is used to describe clinical symptoms such as discomfort in the chest, jaw, shoulder, back, or arms that are induced by physical exertion or emotional stress and subside with rest or treatment with nitroglycerin. Angina is clinically classified into stable angina (SA) and unstable angina (UA). SA is a chronic medical condition while UA is an acute coronary syndrome. Among the causes of angina pectoris, the most common is coronary artery disease (CAD). At the cellular level, angina pectoris is a result of increased myocardial oxygen demand or decreased myocardial oxygen supply.",,,,,,"カルテオロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00599"">D00599</a>]
 ベタキソロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00598"">D00598</a>]
 ニプラジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01691"">D01691</a>]
 アミノフィリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05429"">D05429</a>]
 ピンドロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00513"">D00513</a>]
 プロプラノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00483"">D00483</a>]
 ナドロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00432"">D00432</a>]
 メトプロロール酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00601"">D00601</a>]
 アテノロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00235"">D00235</a>]
 アセブトロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00597"">D00597</a>]
 ビソプロロールフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00634"">D00634</a>]
 アロチノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01830"">D01830</a>]
 ベラパミル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00619"">D00619</a>]
 ベプリジル塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00631"">D00631</a>]
 ニトログリセリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00515"">D00515</a>]
 セリプロロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01741"">D01741</a>]
 カルベジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00255"">D00255</a>]
 エホニジピン塩酸塩エタノール付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01604"">D01604</a>]
 硝酸イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00516"">D00516</a>]
 一硝酸イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00630"">D00630</a>]
 ジラゼプ塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02631"">D02631</a>]
 トラピジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01220"">D01220</a>]
 ニコランジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01810"">D01810</a>]
 ジルチアゼム塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00616"">D00616</a>]
 アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00615"">D00615</a>]
 ニフェジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00437"">D00437</a>]
 ニトレンジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00629"">D00629</a>]
 ベニジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02045"">D02045</a>]
 亜硝酸アミル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00517"">D00517</a>]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08488"">D08488</a>]
 プラスグレル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05597"">D05597</a>]
 クロピドグレル硫酸塩・アスピリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10513"">D10513</a>]
 アスピリン・ランソプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10527"">D10527</a>]",,"ICD-11: BA40
 ICD-10: I20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000787"">D000787</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20693568"">20693568</a>
 著者        Tobin KJ
 タイトル      Stable angina pectoris: what does the current clinical evidence tell us?
 雑誌        J Am Osteopath Assoc 110:364-70 (2010)
 著者        Albrecht S.
 タイトル      The pathophysiology and treatment of stable angina pectoris.
 雑誌        US Pharm 38:43-60 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10631280"">10631280</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Yeghiazarians Y, Braunstein JB, Askari A, Stone PH
 タイトル      Unstable angina pectoris.
 雑誌        N Engl J Med 342:101-14 (2000)
 DOI:<a href=""https://doi.org/10.1056/NEJM200001133420207"">10.1056/NEJM200001133420207</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20384546"">20384546</a> (drug)
 著者        Fernandez SF, Tandar A, Boden WE
 タイトル      Emerging medical treatment for angina pectoris.
 雑誌        Expert Opin Emerg Drugs 15:283-98 (2010)
 DOI:<a href=""https://doi.org/10.1517/14728210903544482"">10.1517/14728210903544482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14570861"">14570861</a> (drug)
 著者        Aronow WS
 タイトル      Treatment of unstable angina pectoris/non-ST-segment elevation myocardial infarction in elderly patients.
 雑誌        J Gerontol A Biol Sci Med Sci 58:M927-33 (2003)
 DOI:<a href=""https://doi.org/10.1093/gerona/58.10.m927"">10.1093/gerona/58.10.m927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24416066"">24416066</a>
 著者        Mao C, Chung VC, Yuan JQ, Yu YY, Yang ZY, Wu XY, Tang JL
 タイトル      Evaluation of the add-on effect of chinese patent medicine for patients with stable or unstable angina: a systematic review and meta-analysis.
 雑誌        Evid Based Complement Alternat Med 2013:673193 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/673193"">10.1155/2013/673193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25039022"">25039022</a>
 著者        Andrikopoulos G, Parissis J, Filippatos G, Nikolaou M, Pantos K, Voudris V, Karvounis H, Alexopoulos D, Goudevenos J
 タイトル      Medical management of stable angina.
 雑誌        Hellenic J Cardiol 55:272-80 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15771924"">15771924</a> (marker)
 著者        Jordanova N, Gyongyosi M, Khorsand A, Falkensammer C, Zorn G, Wojta J, Anvari A, Huber K
 タイトル      New cut-off values of cardiac markers for risk stratification of angina pectoris.
 雑誌        Int J Cardiol 99:429-35 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ijcard.2004.03.003"">10.1016/j.ijcard.2004.03.003</a>"
H01633,高血圧症,,,"High blood pressure (hypertension) is the most frequent classic cardiovascular risk factor and accounts for a large proportion of cardiovascular mortality, the main cause of death worldwide. Hypertension is generally classified as primary (essential) or secondary. Essential hypertension (EH) is the most common diagnosis in this disease, suggesting that a monocausal etiology has not been identified. However, a number of risk factors associated with EH have also been identified such as age, sex, demographic, environmental, genetic, and vascular factors. Secondary hypertension generally has an earlier age at onset, no family history, and a clear cause such as a renal or endocrine disorder, or an iatrogenic trigger, such as use of oral contraceptives. Blood pressure is a heritable trait; an estimated 30% of variance in blood pressure relates to genetic factors. Understanding of the genetic architecture of traits has progressed in rare mendelian hypertensive phenotypes, such as Gordon's syndrome.",循環器疾患,,"CYP11B2 [HSA:1585] [KO:K07433]
 CYP11B1 [HSA:1584] [KO:K00497]
 HSD11B2 [HSA:3291] [KO:K00071]
 NR3C2 [HSA:4306] [KO:K08555]
 SCNN1B [HSA:6338] [KO:K04825]
 SCNN1G [HSA:6340] [KO:K04827]",,"Excess consumption of sodium [CPD:C01330]
 Excess consumption of coffee
 Excess consumption of alcohol",,"カルテオロール塩酸塩 [DR:D00599]
 ベタキソロール塩酸塩 [DR:D00598]
 ニプラジロール [DR:D01691]
 ブナゾシン塩酸塩 [DR:D01887]
 ピンドロール [DR:D00513]
 プロプラノロール塩酸塩 [DR:D00483]
 ナドロール [DR:D00432]
 メトプロロール酒石酸塩 [DR:D00601]
 アテノロール [DR:D00235]
 アセブトロール塩酸塩 [DR:D00597]
 ビソプロロールフマル酸塩 [DR:D00634]
 アロチノロール塩酸塩 [DR:D01830]
 ヒドロクロロチアジド [DR:D00340]
 トリクロルメチアジド [DR:D00658]
 ベンチルヒドロクロロチアジド [DR:D01246]
 スピロノラクトン [DR:D00443]
 トリアムテレン [DR:D00386]
 メフルシド [DR:D01877]
 フロセミド [DR:D00331]
 ヒドララジン塩酸塩 [DR:D01302]
 カプトプリル [DR:D00251]
 エナラプリルマレイン酸塩 [DR:D00621]
 リシノプリル水和物 [DR:D00362]
 ペリンドプリルエルブミン [DR:D00624]
 キナプリル塩酸塩 [DR:D00459]
 ベナゼプリル塩酸塩 [DR:D00620]
 シラザプリル水和物 [DR:D01069]
 トランドラプリル [DR:D00383]
 デラプリル塩酸塩 [DR:D01667]
 テモカプリル塩酸塩 [DR:D01119]
 イミダプリル塩酸塩 [DR:D01549]
 アラセプリル [DR:D01900]
 メチルドパ水和物 [DR:D00405]
 クロニジン塩酸塩 [DR:D00604]
 プラゾシン塩酸塩 [DR:D00609]
 ドキサゾシンメシル酸塩 [DR:D00608]
 ウラピジル [DR:D01333]
 インダパミド [DR:D00345]
 エプレレノン [DR:D01115]
 ベバントロール塩酸塩 [DR:D01369]
 ビソプロロール [DR:D02342]
 セリプロロール塩酸塩 [DR:D01741]
 ラベタロール塩酸塩 [DR:D00600]
 カルベジロール [DR:D00255]
 フェロジピン [DR:D00319]
 ニカルジピン塩酸塩 [DR:D00617]
 ニルバジピン [DR:D01908]
 マニジピン塩酸塩 [DR:D01553]
 バルニジピン塩酸塩 [DR:D01104]
 シルニジピン [DR:D01173]
 ロサルタンカリウム [DR:D00357]
 バルサルタン [DR:D00400]
 イルベサルタン [DR:D00523]
 カンデサルタンシレキセチル [DR:D00626]
 テルミサルタン [DR:D00627]
 オルメサルタンメドキソミル [DR:D01204]
 ロサルタンカリウム・ヒドロクロロチアジド [DR:D07895]
 バルサルタン･ヒドロクロロチアジド [DR:D09197]
 イルベサルタン・トリクロルメチアジド [DR:D10480]
 カンデサルタンシレキセチル･ヒドロクロロチアジド [DR:D09196]
 テルミサルタン･ヒドロクロロチアジド [DR:D09219]
 バルサルタン･アムロジピンベシル酸塩 [DR:D09745]
 テルミサルタン･アムロジピンベシル酸塩 [DR:D09743]
 イルベサルタン・アムロジピンベシル酸塩 [DR:D10243]
 カンデサルタンシレキセチル・アムロジピンベシル酸塩 [DR:D07569]
 サクビトリルバルサルタンナトリウム水和物 [DR:D10226]
 アリスキレンフマル酸塩 [DR:D06412]
 テラゾシン塩酸塩水和物 [DR:D00610]
 グアナベンズ酢酸塩 [DR:D00605]
 アゼルニジピン [DR:D01145]
 アモスラロール塩酸塩 [DR:D01469]
 アラニジピン [DR:D01562]
 エホニジピン塩酸塩エタノール付加物 [DR:D01604]
 トリパミド [DR:D01895]
 アジルサルタン [DR:D08864]
 オルメサルタンメドキソミル・アゼルニジピン [DR:D09594]
 アジルサルタン・アムロジピンベシル酸塩 [DR:D10524]
 バルサルタン・シルニジピン [DR:D10525]
 テルミサルタン・アムロジピン・ヒドロクロロチアジド [DR:D10805]
 エサキセレノン [DR:D10892]
 ジルチアゼム塩酸塩 [DR:D00616]
 アムロジピンベシル酸塩 [DR:D00615]
 ニフェジピン [DR:D00437]
 ニトレンジピン [DR:D00629]
 ベニジピン塩酸塩 [DR:D02045]
 トコフェロールニコチン酸エステル [DR:D01530]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:D08488]
 カリジノゲナーゼ [DR:D03330]
 黄連解毒湯エキス [DR:D06924]
 九味檳榔湯 [DR:D06937]
 柴胡加竜骨牡蛎湯 [DR:D06962]
 三黄瀉心湯 [DR:D06967]
 四物湯 [DR:D06977]
 真武湯エキス [DR:D06995]
 大柴胡湯エキス [DR:D07004]
 大柴胡湯去大黄 [DR:D07005]
 大承気湯 [DR:D07006]
 八味地黄丸エキス [DR:D07031]
 防風通聖散エキス [DR:D07041]",,"ICD-11: BA00
 ICD-10: I10
 MeSH: D006973","(drug)
 著者        Foex P, Sear JW.
 タイトル      Hypertension: pathophysiology and treatment.
 雑誌        Continuing Education in Anaesthesia, Critical Care & Pain 4:71-75 (2004)
 DOI:10.1093/bjaceaccp/mkh020
 PMID:25832858
 著者        Poulter NR, Prabhakaran D, Caulfield M
 タイトル      Hypertension.
 雑誌        Lancet 386:801-12 (2015)
 DOI:10.1016/S0140-6736(14)61468-9
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:27028574 (gene, env_factor)
 著者        Singh M, Singh AK, Pandey P, Chandra S, Singh KA, Gambhir IS
 タイトル      Molecular genetics of essential hypertension.
 雑誌        Clin Exp Hypertens 38:268-77 (2016)
 DOI:10.3109/10641963.2015.1116543
 PMID:23303660
 著者        Ehret GB, Caulfield MJ
 タイトル      Genes for blood pressure: an opportunity to understand hypertension.
 雑誌        Eur Heart J 34:951-61 (2013)
 DOI:10.1093/eurheartj/ehs455","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01633"">H01633</a>",高血圧症,"High blood pressure (hypertension) is the most frequent classic cardiovascular risk factor and accounts for a large proportion of cardiovascular mortality, the main cause of death worldwide. Hypertension is generally classified as primary (essential) or secondary. Essential hypertension (EH) is the most common diagnosis in this disease, suggesting that a monocausal etiology has not been identified. However, a number of risk factors associated with EH have also been identified such as age, sex, demographic, environmental, genetic, and vascular factors. Secondary hypertension generally has an earlier age at onset, no family history, and a clear cause such as a renal or endocrine disorder, or an iatrogenic trigger, such as use of oral contraceptives. Blood pressure is a heritable trait; an estimated 30% of variance in blood pressure relates to genetic factors. Understanding of the genetic architecture of traits has progressed in rare mendelian hypertensive phenotypes, such as Gordon's syndrome.",,"CYP11B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1585"">1585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07433"">K07433</a>]
 CYP11B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1584"">1584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00497"">K00497</a>]
 HSD11B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3291"">3291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00071"">K00071</a>]
 NR3C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4306"">4306</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08555"">K08555</a>]
 SCNN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6338"">6338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04825"">K04825</a>]
 SCNN1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6340"">6340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04827"">K04827</a>]",,"Excess consumption of sodium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C01330"">C01330</a>]
 Excess consumption of coffee
 Excess consumption of alcohol",,"カルテオロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00599"">D00599</a>]
 ベタキソロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00598"">D00598</a>]
 ニプラジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01691"">D01691</a>]
 ブナゾシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01887"">D01887</a>]
 ピンドロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00513"">D00513</a>]
 プロプラノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00483"">D00483</a>]
 ナドロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00432"">D00432</a>]
 メトプロロール酒石酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00601"">D00601</a>]
 アテノロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00235"">D00235</a>]
 アセブトロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00597"">D00597</a>]
 ビソプロロールフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00634"">D00634</a>]
 アロチノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01830"">D01830</a>]
 ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00340"">D00340</a>]
 トリクロルメチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00658"">D00658</a>]
 ベンチルヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01246"">D01246</a>]
 スピロノラクトン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00443"">D00443</a>]
 トリアムテレン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00386"">D00386</a>]
 メフルシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01877"">D01877</a>]
 フロセミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00331"">D00331</a>]
 ヒドララジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01302"">D01302</a>]
 カプトプリル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00251"">D00251</a>]
 エナラプリルマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00621"">D00621</a>]
 リシノプリル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00362"">D00362</a>]
 ペリンドプリルエルブミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00624"">D00624</a>]
 キナプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00459"">D00459</a>]
 ベナゼプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00620"">D00620</a>]
 シラザプリル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01069"">D01069</a>]
 トランドラプリル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00383"">D00383</a>]
 デラプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01667"">D01667</a>]
 テモカプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01119"">D01119</a>]
 イミダプリル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01549"">D01549</a>]
 アラセプリル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01900"">D01900</a>]
 メチルドパ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00405"">D00405</a>]
 クロニジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00604"">D00604</a>]
 プラゾシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00609"">D00609</a>]
 ドキサゾシンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00608"">D00608</a>]
 ウラピジル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01333"">D01333</a>]
 インダパミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00345"">D00345</a>]
 エプレレノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01115"">D01115</a>]
 ベバントロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01369"">D01369</a>]
 ビソプロロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02342"">D02342</a>]
 セリプロロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01741"">D01741</a>]
 ラベタロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00600"">D00600</a>]
 カルベジロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00255"">D00255</a>]
 フェロジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00319"">D00319</a>]
 ニカルジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00617"">D00617</a>]
 ニルバジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01908"">D01908</a>]
 マニジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01553"">D01553</a>]
 バルニジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01104"">D01104</a>]
 シルニジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01173"">D01173</a>]
 ロサルタンカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00357"">D00357</a>]
 バルサルタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00400"">D00400</a>]
 イルベサルタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00523"">D00523</a>]
 カンデサルタンシレキセチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00626"">D00626</a>]
 テルミサルタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00627"">D00627</a>]
 オルメサルタンメドキソミル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01204"">D01204</a>]
 ロサルタンカリウム・ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07895"">D07895</a>]
 バルサルタン･ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09197"">D09197</a>]
 イルベサルタン・トリクロルメチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10480"">D10480</a>]
 カンデサルタンシレキセチル･ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09196"">D09196</a>]
 テルミサルタン･ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09219"">D09219</a>]
 バルサルタン･アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09745"">D09745</a>]
 テルミサルタン･アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09743"">D09743</a>]
 イルベサルタン・アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10243"">D10243</a>]
 カンデサルタンシレキセチル・アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07569"">D07569</a>]
 サクビトリルバルサルタンナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10226"">D10226</a>]
 アリスキレンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06412"">D06412</a>]
 テラゾシン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00610"">D00610</a>]
 グアナベンズ酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00605"">D00605</a>]
 アゼルニジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01145"">D01145</a>]
 アモスラロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01469"">D01469</a>]
 アラニジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01562"">D01562</a>]
 エホニジピン塩酸塩エタノール付加物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01604"">D01604</a>]
 トリパミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01895"">D01895</a>]
 アジルサルタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08864"">D08864</a>]
 オルメサルタンメドキソミル・アゼルニジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09594"">D09594</a>]
 アジルサルタン・アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10524"">D10524</a>]
 バルサルタン・シルニジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10525"">D10525</a>]
 テルミサルタン・アムロジピン・ヒドロクロロチアジド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10805"">D10805</a>]
 エサキセレノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10892"">D10892</a>]
 ジルチアゼム塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00616"">D00616</a>]
 アムロジピンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00615"">D00615</a>]
 ニフェジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00437"">D00437</a>]
 ニトレンジピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00629"">D00629</a>]
 ベニジピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02045"">D02045</a>]
 トコフェロールニコチン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01530"">D01530</a>]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08488"">D08488</a>]
 カリジノゲナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03330"">D03330</a>]
 黄連解毒湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06924"">D06924</a>]
 九味檳榔湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06937"">D06937</a>]
 柴胡加竜骨牡蛎湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06962"">D06962</a>]
 三黄瀉心湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06967"">D06967</a>]
 四物湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06977"">D06977</a>]
 真武湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06995"">D06995</a>]
 大柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07004"">D07004</a>]
 大柴胡湯去大黄 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07005"">D07005</a>]
 大承気湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07006"">D07006</a>]
 八味地黄丸エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07031"">D07031</a>]
 防風通聖散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07041"">D07041</a>]",,"ICD-11: BA00
 ICD-10: I10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006973"">D006973</a>","(drug)
 著者        Foex P, Sear JW.
 タイトル      Hypertension: pathophysiology and treatment.
 雑誌        Continuing Education in Anaesthesia, Critical Care & Pain 4:71-75 (2004)
 DOI:<a href=""https://doi.org/10.1093/bjaceaccp/mkh020"">10.1093/bjaceaccp/mkh020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25832858"">25832858</a>
 著者        Poulter NR, Prabhakaran D, Caulfield M
 タイトル      Hypertension.
 雑誌        Lancet 386:801-12 (2015)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(14)61468-9"">10.1016/S0140-6736(14)61468-9</a>
 (drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27028574"">27028574</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Singh M, Singh AK, Pandey P, Chandra S, Singh KA, Gambhir IS
 タイトル      Molecular genetics of essential hypertension.
 雑誌        Clin Exp Hypertens 38:268-77 (2016)
 DOI:<a href=""https://doi.org/10.3109/10641963.2015.1116543"">10.3109/10641963.2015.1116543</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23303660"">23303660</a>
 著者        Ehret GB, Caulfield MJ
 タイトル      Genes for blood pressure: an opportunity to understand hypertension.
 雑誌        Eur Heart J 34:951-61 (2013)
 DOI:<a href=""https://doi.org/10.1093/eurheartj/ehs455"">10.1093/eurheartj/ehs455</a>"
H01634,消化性潰瘍,,,"Peptic ulcer is a common disorder of gastrointestinal system characterized by mucosal damage secondary to pepsin and gastric acid secretion. It usually occurs in the stomach and proximal duodenum. Typical symptoms include episodic burning epigastric pain, loss of appetite, and weight loss. Pain usually occurs two to five hours after meals or on an empty stomach. The most common causes of peptic ulcer are Helicobacter pylori infection and use of nonsteroidal anti-inflammatory drugs (NSAIDs). Smoking increases the risk of ulcer recurrence and slows healing. Most patients are treated successfully with eradication of H. pylori and/or avoidance of NSAIDs, along with the appropriate use of antisecretory therapy. About 25 percent of patients with peptic ulcer have a serious complication such as hemorrhage, perforation, or gastric outlet obstruction. Administration of proton pump inhibitors (PPIs) and endoscopic therapy control most bleeds.",消化器系疾患,,,,"Nonsteroidal anti-inflammatory drugs (NSAIDs)
 Smoking
 病原体         Helicobacter pylori [GN:hpy hpj hpa hps hpg hpp hpb hpl hpi hpq hpw hef hpf heq hex hpv hey hpyb hpyc hpyd hpye hpyf hpyg hpyh hpyj heb hez]",,"スルピリド [DR:D01226]
 オキセサゼイン [DR:D01152]
 プロパンテリン臭化物 [DR:D00481]
 チキジウム臭化物 [DR:D01875]
 アトロピン硫酸塩水和物 [DR:D02069]
 ブチルスコポラミン臭化物 [DR:D01451]
 N-メチルスコポラミンメチル硫酸塩 [DR:D01976]
 ブトロピウム臭化物 [DR:D01491]
 ロートエキス [DR:D04062]
 ピペリドレート塩酸塩 [DR:D01165]
 チメピジウム臭化物水和物 [DR:D02535]
 レバミピド [DR:D01121]
 アズレンスルホン酸ナトリウム水和物 [DR:D02706]
 沈降炭酸カルシウム [DR:D00932]
 メチルメチオニンスルホニウムクロライド [DR:D00177]
 L-グルタミン [DR:D00015]
 シメチジン [DR:D00295]
 ラニチジン塩酸塩 [DR:D00673]
 ファモチジン [DR:D00318]
 ニザチジン [DR:D00440]
 ロキサチジン酢酸エステル塩酸塩 [DR:D01467]
 ラフチジン [DR:D01131]
 ミソプロストール [DR:D00419]
 オメプラゾール [DR:D00455]
 オメプラゾールナトリウム [DR:D05261]
 ランソプラゾール [DR:D00355]
 ラベプラゾールナトリウム [DR:D00724]
 エソメプラゾールマグネシウム水和物 [DR:D01984]
 ボノプラザンフマル酸塩 [DR:D10466]
 スクラルファート水和物 [DR:D00446]
 ピレンゼピン塩酸塩水和物 [DR:D05276]
 トロキシピド [DR:D01306]
 アルギン酸ナトリウム [DR:D03336]
 ポラプレジンク [DR:D01611]
 イルソグラジンマレイン酸塩 [DR:D01658]
 テプレノン [DR:D01827]
 ソファルコン [DR:D01956]
 エカベトナトリウム水和物 [DR:D01991]
 アルジオキサ [DR:D02033]
 セトラキサート塩酸塩 [DR:D02266]
 ベネキサート塩酸塩 ベータデクス [DR:D02452]
 アズレンスルホン酸ナトリウム・L-グルタミン [DR:D04363]
 ジサイクロミン塩酸塩・乾燥水酸化アルミニウムゲル・酸化マグネシウム [DR:D04364]
 幼牛血液抽出物 [DR:D04372]
 メタケイ酸アルミン酸マグネシウム・メチルメチオニンスルホニウムクロリド・炭酸マグネシウム・沈降炭酸カルシウム [DR:D08704]
 乾燥水酸化アルミニウムゲル [DR:D02416]
 合成ケイ酸アルミニウム [DR:D03236]
 炭酸マグネシウム [DR:D01446]
 酸化マグネシウム [DR:D01167]
 水酸化マグネシウム [DR:D00731]
 炭酸水素ナトリウム [DR:D01203]
 乾燥水酸化アルミニウムゲル・水酸化マグネシウム [DR:D04393]
 メトクロプラミド [DR:D00726]
 塩酸メトクロプラミド [DR:D02213]
 安中散 [DR:D06915]
 柴胡桂枝湯エキス [DR:D06964]
 四逆散 [DR:D06973]
 半夏瀉心湯エキス [DR:D07033]",See also H00320 Helicobacter pylori infection.,"ICD-11: DA60 DA61 DA62 DA63
 ICD-10: K25 K26 K27 K28
 MeSH: D010437","PMID:17956071
 著者        Ramakrishnan K, Salinas RC
 タイトル      Peptic ulcer disease.
 雑誌        Am Fam Physician 76:1005-12 (2007)
 PMID:25955624
 著者        Fashner J, Gitu AC
 タイトル      Diagnosis and Treatment of Peptic Ulcer Disease and H. pylori Infection.
 雑誌        Am Fam Physician 91:236-42 (2015)
 PMID:2892567 (drug)
 著者        Weir DG
 タイトル      Peptic ulceration.
 雑誌        Br Med J (Clin Res Ed) 296:195-200 (1988)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01634"">H01634</a>",消化性潰瘍,"Peptic ulcer is a common disorder of gastrointestinal system characterized by mucosal damage secondary to pepsin and gastric acid secretion. It usually occurs in the stomach and proximal duodenum. Typical symptoms include episodic burning epigastric pain, loss of appetite, and weight loss. Pain usually occurs two to five hours after meals or on an empty stomach. The most common causes of peptic ulcer are Helicobacter pylori infection and use of nonsteroidal anti-inflammatory drugs (NSAIDs). Smoking increases the risk of ulcer recurrence and slows healing. Most patients are treated successfully with eradication of H. pylori and/or avoidance of NSAIDs, along with the appropriate use of antisecretory therapy. About 25 percent of patients with peptic ulcer have a serious complication such as hemorrhage, perforation, or gastric outlet obstruction. Administration of proton pump inhibitors (PPIs) and endoscopic therapy control most bleeds.",,,,"Nonsteroidal anti-inflammatory drugs (NSAIDs)
 Smoking
 病原体         Helicobacter pylori [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpy"">hpy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpj"">hpj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpa"">hpa</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hps"">hps</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpg"">hpg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpp"">hpp</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpb"">hpb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpl"">hpl</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpi"">hpi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpq"">hpq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpw"">hpw</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hef"">hef</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpf"">hpf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:heq"">heq</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hex"">hex</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpv"">hpv</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hey"">hey</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyb"">hpyb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyc"">hpyc</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyd"">hpyd</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpye"">hpye</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyf"">hpyf</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyg"">hpyg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyh"">hpyh</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hpyj"">hpyj</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:heb"">heb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:hez"">hez</a>]",,"スルピリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01226"">D01226</a>]
 オキセサゼイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01152"">D01152</a>]
 プロパンテリン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00481"">D00481</a>]
 チキジウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01875"">D01875</a>]
 アトロピン硫酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02069"">D02069</a>]
 ブチルスコポラミン臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01451"">D01451</a>]
 N-メチルスコポラミンメチル硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01976"">D01976</a>]
 ブトロピウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01491"">D01491</a>]
 ロートエキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04062"">D04062</a>]
 ピペリドレート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01165"">D01165</a>]
 チメピジウム臭化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02535"">D02535</a>]
 レバミピド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01121"">D01121</a>]
 アズレンスルホン酸ナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02706"">D02706</a>]
 沈降炭酸カルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00932"">D00932</a>]
 メチルメチオニンスルホニウムクロライド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00177"">D00177</a>]
 L-グルタミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00015"">D00015</a>]
 シメチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00295"">D00295</a>]
 ラニチジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00673"">D00673</a>]
 ファモチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00318"">D00318</a>]
 ニザチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00440"">D00440</a>]
 ロキサチジン酢酸エステル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01467"">D01467</a>]
 ラフチジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01131"">D01131</a>]
 ミソプロストール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00419"">D00419</a>]
 オメプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00455"">D00455</a>]
 オメプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05261"">D05261</a>]
 ランソプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00355"">D00355</a>]
 ラベプラゾールナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00724"">D00724</a>]
 エソメプラゾールマグネシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01984"">D01984</a>]
 ボノプラザンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10466"">D10466</a>]
 スクラルファート水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00446"">D00446</a>]
 ピレンゼピン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05276"">D05276</a>]
 トロキシピド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01306"">D01306</a>]
 アルギン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03336"">D03336</a>]
 ポラプレジンク [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01611"">D01611</a>]
 イルソグラジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01658"">D01658</a>]
 テプレノン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01827"">D01827</a>]
 ソファルコン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01956"">D01956</a>]
 エカベトナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01991"">D01991</a>]
 アルジオキサ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02033"">D02033</a>]
 セトラキサート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02266"">D02266</a>]
 ベネキサート塩酸塩 ベータデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02452"">D02452</a>]
 アズレンスルホン酸ナトリウム・L-グルタミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04363"">D04363</a>]
 ジサイクロミン塩酸塩・乾燥水酸化アルミニウムゲル・酸化マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04364"">D04364</a>]
 幼牛血液抽出物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04372"">D04372</a>]
 メタケイ酸アルミン酸マグネシウム・メチルメチオニンスルホニウムクロリド・炭酸マグネシウム・沈降炭酸カルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08704"">D08704</a>]
 乾燥水酸化アルミニウムゲル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02416"">D02416</a>]
 合成ケイ酸アルミニウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03236"">D03236</a>]
 炭酸マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01446"">D01446</a>]
 酸化マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01167"">D01167</a>]
 水酸化マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00731"">D00731</a>]
 炭酸水素ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01203"">D01203</a>]
 乾燥水酸化アルミニウムゲル・水酸化マグネシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04393"">D04393</a>]
 メトクロプラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00726"">D00726</a>]
 塩酸メトクロプラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02213"">D02213</a>]
 安中散 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06915"">D06915</a>]
 柴胡桂枝湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06964"">D06964</a>]
 四逆散 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06973"">D06973</a>]
 半夏瀉心湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07033"">D07033</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00320"">H00320</a> Helicobacter pylori infection.","ICD-11: DA60 DA61 DA62 DA63
 ICD-10: K25 K26 K27 K28
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010437"">D010437</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17956071"">17956071</a>
 著者        Ramakrishnan K, Salinas RC
 タイトル      Peptic ulcer disease.
 雑誌        Am Fam Physician 76:1005-12 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25955624"">25955624</a>
 著者        Fashner J, Gitu AC
 タイトル      Diagnosis and Treatment of Peptic Ulcer Disease and H. pylori Infection.
 雑誌        Am Fam Physician 91:236-42 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2892567"">2892567</a> (drug)
 著者        Weir DG
 タイトル      Peptic ulceration.
 雑誌        Br Med J (Clin Res Ed) 296:195-200 (1988)"
H01635,"脂質異常症;
 高脂血症
 下位グループ    家族性高コレステロール血症 [DS:H00155]
 家族性複合型高脂血症 [DS:H00153]
 高リポ蛋白血症 IIa 型 [DS:H01383]
 高リポ蛋白血症 III 型 [DS:H00156]
 原発性高カイロミクロン血症 [DS:H01784]
 高トリグリセリド血症 [DS:H01637]
 常染色体劣性遺伝性高コレステロール血症 [DS:H01918]",,,"Dyslipidemia is a condition characterized by either an increase or decrease in concentration of lipids in the blood. Hyperlipidemia, which refers to an increase in cholesterol, triglyceride (TG), or both, is the most common form of dyslipidemia. Hyperlipidemias can be classified as familial (also called primary) caused by an inherited gene mutation, or acquired (also called secondary) when resulting from underlying disorders that lead to alterations in plasma lipid and lipoprotein metabolism. The causes of acquired hyperlipidemia include dietary, alcohol intake, oral contraceptives, diabetes mellitus, and pharmacological agents (e.g., retinoic acid derivatives, steroids, and beta-blockers). Familial hyperlipidemias are classified according to the Fredrickson classification (hyperlipoproteinemia types I to V) which is based on lipoprotein analyses by electrophoresis or ultracentrifugation. It was later adopted by the World Health Organization (WHO). Hyperlipidemias are also classified according to which types of lipids are elevated. Hypercholesterolemia, hypertriglyceridemia, and combined hyperlipidemia refer to elevations involving the major cholesterol-rich lipoproteins (LDL), triglyceride-rich lipoproteins (VLDL), and both, respectively.",代謝疾患,nt06320  APOB-LDLR signaling,"(Hyperlipoproteinemia type 1) APOC2 [HSA:344] [KO:K22287]
 (Hyperlipoproteinemia type 1,2) LPL [HSA:4023] [KO:K01059]
 (Hyperlipoproteinemia type 2) LDLR [HSA:3949] [KO:K12473]
 (Hyperlipoproteinemia type 5) APOA5 [HSA:116519] [KO:K09025]",,,,"ガンマ-オリザノール [DR:D01221]
 クロフィブラート [DR:D00279]
 ベザフィブラート [DR:D01366]
 フェノフィブラート [DR:D00565]
 ペマフィブラート [DR:D10711]
 シンバスタチン [DR:D00434]
 プラバスタチンナトリウム [DR:D00893]
 フルバスタチンナトリウム [DR:D00892]
 アトルバスタチンカルシウム水和物 [DR:D02258]
 ロスバスタチンカルシウム [DR:D01915]
 ピタバスタチンカルシウム [DR:D01862]
 ピタバスタチンカルシウム水和物 [DR:D10568]
 コレスチラミン [DR:D02690]
 ニセリトロール [DR:D01754]
 プロブコール [DR:D00476]
 オメガ-3脂肪酸エチルエステル [DR:D05255]
 エゼチミブ [DR:D01966]
 エボロクマブ [DR:D10557]
 アリロクマブ [DR:D10335]
 エゼチミブ・アトルバスタチン [DR:D10385]
 コレスチミド [DR:D01934]
 ニコモール [DR:D01291]
 イコサペント酸エチル [DR:D01892]
 ポリエンホスファチジルコリン [DR:D04267]
 エラスターゼES [DR:D04268]
 エゼチミブ・ロスバスタチン [DR:D11520]
 トコフェロールニコチン酸エステル [DR:D01530]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:D08488]
 リボフラビン酪酸エステル [DR:D01913]
 パンテチン [DR:D01234]",,"ICD-11: 5C80
 ICD-10: E78
 MeSH: D006949
 OMIM: 238600 207750 143890 144250 144650","PMID:19306526
 著者        Alwaili K, Alrasadi K, Awan Z, Genest J
 タイトル      Approach to the diagnosis and management of lipoprotein disorders.
 雑誌        Curr Opin Endocrinol Diabetes Obes 16:132-40 (2009)
 DOI:10.1097/MED.0b013e328329135a
 PMID:4930042
 著者        Beaumont JL, Carlson LA, Cooper GR, Fejfar Z, Fredrickson DS, Strasser T
 タイトル      Classification of hyperlipidaemias and hyperlipoproteinaemias.
 雑誌        Bull World Health Organ 43:891-915 (1970)
 PMID:193431
 著者        Havel RJ
 タイトル      Classifications of the hyperlipidemias.
 雑誌        Annu Rev Med 28:195-209 (1977)
 DOI:10.1146/annurev.me.28.020177.001211","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>","脂質異常症;
 高脂血症
 下位グループ    家族性高コレステロール血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00155"">H00155</a>]
 家族性複合型高脂血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00153"">H00153</a>]
 高リポ蛋白血症 IIa 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01383"">H01383</a>]
 高リポ蛋白血症 III 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00156"">H00156</a>]
 原発性高カイロミクロン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01784"">H01784</a>]
 高トリグリセリド血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01637"">H01637</a>]
 常染色体劣性遺伝性高コレステロール血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01918"">H01918</a>]","Dyslipidemia is a condition characterized by either an increase or decrease in concentration of lipids in the blood. Hyperlipidemia, which refers to an increase in cholesterol, triglyceride (TG), or both, is the most common form of dyslipidemia. Hyperlipidemias can be classified as familial (also called primary) caused by an inherited gene mutation, or acquired (also called secondary) when resulting from underlying disorders that lead to alterations in plasma lipid and lipoprotein metabolism. The causes of acquired hyperlipidemia include dietary, alcohol intake, oral contraceptives, diabetes mellitus, and pharmacological agents (e.g., retinoic acid derivatives, steroids, and beta-blockers). Familial hyperlipidemias are classified according to the Fredrickson classification (hyperlipoproteinemia types I to V) which is based on lipoprotein analyses by electrophoresis or ultracentrifugation. It was later adopted by the World Health Organization (WHO). Hyperlipidemias are also classified according to which types of lipids are elevated. Hypercholesterolemia, hypertriglyceridemia, and combined hyperlipidemia refer to elevations involving the major cholesterol-rich lipoproteins (LDL), triglyceride-rich lipoproteins (VLDL), and both, respectively.","<a href=""https://www.kegg.jp/network/nt06320"">nt06320</a>  APOB-LDLR signaling","(Hyperlipoproteinemia type 1) APOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:344"">344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22287"">K22287</a>]
 (Hyperlipoproteinemia type 1,2) LPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4023"">4023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01059"">K01059</a>]
 (Hyperlipoproteinemia type 2) LDLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3949"">3949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12473"">K12473</a>]
 (Hyperlipoproteinemia type 5) APOA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116519"">116519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09025"">K09025</a>]",,,,"ガンマ-オリザノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01221"">D01221</a>]
 クロフィブラート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00279"">D00279</a>]
 ベザフィブラート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01366"">D01366</a>]
 フェノフィブラート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00565"">D00565</a>]
 ペマフィブラート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10711"">D10711</a>]
 シンバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00434"">D00434</a>]
 プラバスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00893"">D00893</a>]
 フルバスタチンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00892"">D00892</a>]
 アトルバスタチンカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02258"">D02258</a>]
 ロスバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01915"">D01915</a>]
 ピタバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01862"">D01862</a>]
 ピタバスタチンカルシウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10568"">D10568</a>]
 コレスチラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02690"">D02690</a>]
 ニセリトロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01754"">D01754</a>]
 プロブコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00476"">D00476</a>]
 オメガ-3脂肪酸エチルエステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05255"">D05255</a>]
 エゼチミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01966"">D01966</a>]
 エボロクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10557"">D10557</a>]
 アリロクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10335"">D10335</a>]
 エゼチミブ・アトルバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10385"">D10385</a>]
 コレスチミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01934"">D01934</a>]
 ニコモール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01291"">D01291</a>]
 イコサペント酸エチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01892"">D01892</a>]
 ポリエンホスファチジルコリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04267"">D04267</a>]
 エラスターゼES [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04268"">D04268</a>]
 エゼチミブ・ロスバスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11520"">D11520</a>]
 トコフェロールニコチン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01530"">D01530</a>]
 アムロジピンベシル酸塩･アトルバスタチンカルシウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08488"">D08488</a>]
 リボフラビン酪酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01913"">D01913</a>]
 パンテチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01234"">D01234</a>]",,"ICD-11: 5C80
 ICD-10: E78
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006949"">D006949</a>
 OMIM: <a href=""https://www.omim.org/entry/238600"">238600</a> <a href=""https://www.omim.org/entry/207750"">207750</a> <a href=""https://www.omim.org/entry/143890"">143890</a> <a href=""https://www.omim.org/entry/144250"">144250</a> <a href=""https://www.omim.org/entry/144650"">144650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19306526"">19306526</a>
 著者        Alwaili K, Alrasadi K, Awan Z, Genest J
 タイトル      Approach to the diagnosis and management of lipoprotein disorders.
 雑誌        Curr Opin Endocrinol Diabetes Obes 16:132-40 (2009)
 DOI:<a href=""https://doi.org/10.1097/MED.0b013e328329135a"">10.1097/MED.0b013e328329135a</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4930042"">4930042</a>
 著者        Beaumont JL, Carlson LA, Cooper GR, Fejfar Z, Fredrickson DS, Strasser T
 タイトル      Classification of hyperlipidaemias and hyperlipoproteinaemias.
 雑誌        Bull World Health Organ 43:891-915 (1970)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/193431"">193431</a>
 著者        Havel RJ
 タイトル      Classifications of the hyperlipidemias.
 雑誌        Annu Rev Med 28:195-209 (1977)
 DOI:<a href=""https://doi.org/10.1146/annurev.me.28.020177.001211"">10.1146/annurev.me.28.020177.001211</a>"
H01636,"線維筋痛症;
 線維筋痛症候群",,,"Fibromyalgia is a common and chronic pain disorder that predominantly affects women. It belongs to the group of rheumatic disorders of the soft tissues, and is characterised by widespread chronic pain, cognitive and affective disturbances and fatigue. The etiology and pathogenesis of fibromyalgia is uncertain. Genetic studies suggest an association with polymorphisms in serotonergic, dopaminergic, and catecholaminergic pathways involved in pain transmission and modulation. The disease is likely expressed in the presence of environmental trigger, which lead to expression of multiple genes that amplify pain perception in the pain processing pathway. Although there is no ultimate cure for fibromyalgia, some medications can alleviate symptoms of the disease.",筋骨格疾患,,,,,,"塩酸デュロキセチン [DR:D01179]
 プレガバリン [DR:D02716]",,"ICD-11: MG30.01
 ICD-10: M79.7
 MeSH: D005356","PMID:26488355
 著者        Binkiewicz-Glinska A, Bakula S, Tomczak H, Landowski J, Ruckemann-Dziurdzinska K, Zaborowska-Sapeta K, Kowalski I, Kiebzak W
 タイトル      Fibromyalgia Syndrome - a multidisciplinary approach.
 雑誌        Psychiatr Pol 49:801-10 (2015)
 DOI:10.12740/psychiatriapolska.pl/online-first/4
 PMID:26937205 (drug)
 著者        Bhusal S, Diomampo S, Magrey MN
 タイトル      Clinical utility, safety, and efficacy of pregabalin in the treatment of fibromyalgia.
 雑誌        Drug Healthc Patient Saf 8:13-23 (2016)
 DOI:10.2147/DHPS.S95535","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01636"">H01636</a>","線維筋痛症;
 線維筋痛症候群","Fibromyalgia is a common and chronic pain disorder that predominantly affects women. It belongs to the group of rheumatic disorders of the soft tissues, and is characterised by widespread chronic pain, cognitive and affective disturbances and fatigue. The etiology and pathogenesis of fibromyalgia is uncertain. Genetic studies suggest an association with polymorphisms in serotonergic, dopaminergic, and catecholaminergic pathways involved in pain transmission and modulation. The disease is likely expressed in the presence of environmental trigger, which lead to expression of multiple genes that amplify pain perception in the pain processing pathway. Although there is no ultimate cure for fibromyalgia, some medications can alleviate symptoms of the disease.",,,,,,"塩酸デュロキセチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01179"">D01179</a>]
 プレガバリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02716"">D02716</a>]",,"ICD-11: MG30.01
 ICD-10: M79.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005356"">D005356</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26488355"">26488355</a>
 著者        Binkiewicz-Glinska A, Bakula S, Tomczak H, Landowski J, Ruckemann-Dziurdzinska K, Zaborowska-Sapeta K, Kowalski I, Kiebzak W
 タイトル      Fibromyalgia Syndrome - a multidisciplinary approach.
 雑誌        Psychiatr Pol 49:801-10 (2015)
 DOI:<a href=""https://doi.org/10.12740/psychiatriapolska.pl/online-first/4"">10.12740/psychiatriapolska.pl/online-first/4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26937205"">26937205</a> (drug)
 著者        Bhusal S, Diomampo S, Magrey MN
 タイトル      Clinical utility, safety, and efficacy of pregabalin in the treatment of fibromyalgia.
 雑誌        Drug Healthc Patient Saf 8:13-23 (2016)
 DOI:<a href=""https://doi.org/10.2147/DHPS.S95535"">10.2147/DHPS.S95535</a>"
H01637,"高トリグリセリド血症
 上位グループ    脂質異常症 [DS:H01635]",,,"Hypertriglyceridemia (HTG) is a condition with fasting triglyceride (TG) levels in blood continuing to rise. HTG generally refers to an increase of plasma triglyceride (TG) concentrations above the 95th percentile for age and gender of a reference population. HTG has generally been classified as primary when a definite familial or inherited basis is suspected, whereas secondary HTG refers to cases where there coexist one or more identifiable secondary conditions such as metabolic syndrome, type 2 diabetes (T2D), alcohol consumption, various medications, renal insufficiency, pregnancy, etc. Genetic conditions with HTG include familial HTG (FHTG), familial combined hyperlipidemia (FCHL) [DS:H00153], and familial dysbetalipoproteinemia (Type III hyperlipidemia) [DS:H00156]. Three drug classes are clinically available for treatment of HTG, fibrates, niacin and n-3 fatty acids. Each of these classes has limitations. There is inconsistency in the evidence base for cardiovascular risk reduction using fibrates, the use of niacin is associated with significant side effects, and there are limited data on the use of n-3 fatty acids to reduce cardiovascular risk.",代謝疾患,,"(HYTG1) APOA5 [HSA:116519] [KO:K09025]
 (HYTG2) CREB3L3 [HSA:84699] [KO:K09048]",,,,デキストラン硫酸エステルナトリウムイオウ5 [DR:D03343],,"ICD-11: 5C80.1
 ICD-10: E78.1 E78.2 E78.4
 MeSH: D015228
 OMIM: 145750 619324","PMID:25554923
 著者        Lewis GF, Xiao C, Hegele RA
 タイトル      Hypertriglyceridemia in the genomic era: a new paradigm.
 雑誌        Endocr Rev 36:131-47 (2015)
 DOI:10.1210/er.2014-1062
 PMID:12915450
 著者        Kao JT, Wen HC, Chien KL, Hsu HC, Lin SW
 タイトル      A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.
 雑誌        Hum Mol Genet 12:2533-9 (2003)
 DOI:10.1093/hmg/ddg255
 PMID:21666694
 著者        Lee JH, Giannikopoulos P, Duncan SA, Wang J, Johansen CT, Brown JD, Plutzky J, Hegele RA, Glimcher LH, Lee AH
 タイトル      The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism.
 雑誌        Nat Med 17:812-5 (2011)
 DOI:10.1038/nm.2347","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01637"">H01637</a>","高トリグリセリド血症
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Hypertriglyceridemia (HTG) is a condition with fasting triglyceride (TG) levels in blood continuing to rise. HTG generally refers to an increase of plasma triglyceride (TG) concentrations above the 95th percentile for age and gender of a reference population. HTG has generally been classified as primary when a definite familial or inherited basis is suspected, whereas secondary HTG refers to cases where there coexist one or more identifiable secondary conditions such as metabolic syndrome, type 2 diabetes (T2D), alcohol consumption, various medications, renal insufficiency, pregnancy, etc. Genetic conditions with HTG include familial HTG (FHTG), familial combined hyperlipidemia (FCHL) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00153],"">H00153],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:familial"">familial</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dysbetalipoproteinemia"">dysbetalipoproteinemia</a> (Type <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:III"">III</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hyperlipidemia)"">hyperlipidemia)</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00156]."">H00156].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Three"">Three</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:drug"">drug</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:classes"">classes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinically"">clinically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:available"">available</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:treatment"">treatment</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HTG,"">HTG,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fibrates,"">fibrates,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:niacin"">niacin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:n-3"">n-3</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fatty"">fatty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acids."">acids.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Each"">Each</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:classes"">classes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:limitations."">limitations.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:There"">There</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inconsistency"">inconsistency</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:evidence"">evidence</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:base"">base</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cardiovascular"">cardiovascular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:risk"">risk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reduction"">reduction</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:using"">using</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fibrates,"">fibrates,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:use"">use</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:niacin"">niacin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:associated"">associated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:significant"">significant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:side"">side</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:effects,"">effects,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:there"">there</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:limited"">limited</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:data"">data</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:use"">use</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:n-3"">n-3</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fatty"">fatty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acids"">acids</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reduce"">reduce</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cardiovascular"">cardiovascular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:risk."">risk.</a>",,"(HYTG1) APOA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116519"">116519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09025"">K09025</a>]
 (HYTG2) CREB3L3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84699"">84699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09048"">K09048</a>]",,,,"デキストラン硫酸エステルナトリウムイオウ5 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03343"">D03343</a>]",,"ICD-11: 5C80.1
 ICD-10: E78.1 E78.2 E78.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015228"">D015228</a>
 OMIM: <a href=""https://www.omim.org/entry/145750"">145750</a> <a href=""https://www.omim.org/entry/619324"">619324</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25554923"">25554923</a>
 著者        Lewis GF, Xiao C, Hegele RA
 タイトル      Hypertriglyceridemia in the genomic era: a new paradigm.
 雑誌        Endocr Rev 36:131-47 (2015)
 DOI:<a href=""https://doi.org/10.1210/er.2014-1062"">10.1210/er.2014-1062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12915450"">12915450</a>
 著者        Kao JT, Wen HC, Chien KL, Hsu HC, Lin SW
 タイトル      A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.
 雑誌        Hum Mol Genet 12:2533-9 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg255"">10.1093/hmg/ddg255</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21666694"">21666694</a>
 著者        Lee JH, Giannikopoulos P, Duncan SA, Wang J, Johansen CT, Brown JD, Plutzky J, Hegele RA, Glimcher LH, Lee AH
 タイトル      The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism.
 雑誌        Nat Med 17:812-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/nm.2347"">10.1038/nm.2347</a>"
H01638,神経障害性疼痛,,,"Neuropathic pain is defined as pain caused by a lesion or disease affecting the somatosensory nervous system, and may be generated by either the peripheral or central nervous system, or both. It is especially problematic because of its severity, chronicity and resistance to simple analgesics. It may result from various causes including cervical or lumbar radiculopathy, diabetic neuropathy, cancer-related neuropathic pain, postherpetic neuralgia, HIV-related neuropathy, spinal cord injury, trigeminal neuralgia and complex regional pain syndrome type II, among others. Treatments are generally palliative and include conservative nonpharmacologic therapies, drugs and interventional therapies such as spinal cord stimulation. Analgesic agents recommended for first-line treatments are gabapentinoids, tricyclic antidepressants (TCAs) and serotonin noradrenaline reuptake inhibitors (SNRIs).",神経系疾患,,,,,,"カルバマゼピン [DR:D00252]
 アミトリプチリン塩酸塩 [DR:D00809]
 ミロガバリンベシル酸塩 [DR:D10790]
 プレガバリン [DR:D02716]",See also H01459 Diabetic neuropathy and H01624 Postherpetic neuralgia.,"ICD-11: 8E43.0
 ICD-10: M79.2
 MeSH: D009437","PMID:16880448
 著者        Gilron I, Watson CP, Cahill CM, Moulin DE
 タイトル      Neuropathic pain: a practical guide for the clinician.
 雑誌        CMAJ 175:265-75 (2006)
 DOI:10.1503/cmaj.060146
 PMID:25479151 (drug)
 著者        Moulin D, Boulanger A, Clark AJ, Clarke H, Dao T, Finley GA, Furlan A, Gilron I, Gordon A, Morley-Forster PK, Sessle BJ, Squire P, Stinson J, Taenzer P, Velly A, Ware MA, Weinberg EL, Williamson OD
 タイトル      Pharmacological management of chronic neuropathic pain: revised consensus statement from the Canadian Pain Society.
 雑誌        Pain Res Manag 19:328-35 (2014)
 DOI:10.1155/2014/754693","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01638"">H01638</a>",神経障害性疼痛,"Neuropathic pain is defined as pain caused by a lesion or disease affecting the somatosensory nervous system, and may be generated by either the peripheral or central nervous system, or both. It is especially problematic because of its severity, chronicity and resistance to simple analgesics. It may result from various causes including cervical or lumbar radiculopathy, diabetic neuropathy, cancer-related neuropathic pain, postherpetic neuralgia, HIV-related neuropathy, spinal cord injury, trigeminal neuralgia and complex regional pain syndrome type II, among others. Treatments are generally palliative and include conservative nonpharmacologic therapies, drugs and interventional therapies such as spinal cord stimulation. Analgesic agents recommended for first-line treatments are gabapentinoids, tricyclic antidepressants (TCAs) and serotonin noradrenaline reuptake inhibitors (SNRIs).",,,,,,"カルバマゼピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00252"">D00252</a>]
 アミトリプチリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00809"">D00809</a>]
 ミロガバリンベシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10790"">D10790</a>]
 プレガバリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02716"">D02716</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01459"">H01459</a> Diabetic neuropathy and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01624"">H01624</a> Postherpetic neuralgia.","ICD-11: 8E43.0
 ICD-10: M79.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009437"">D009437</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16880448"">16880448</a>
 著者        Gilron I, Watson CP, Cahill CM, Moulin DE
 タイトル      Neuropathic pain: a practical guide for the clinician.
 雑誌        CMAJ 175:265-75 (2006)
 DOI:<a href=""https://doi.org/10.1503/cmaj.060146"">10.1503/cmaj.060146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25479151"">25479151</a> (drug)
 著者        Moulin D, Boulanger A, Clark AJ, Clarke H, Dao T, Finley GA, Furlan A, Gilron I, Gordon A, Morley-Forster PK, Sessle BJ, Squire P, Stinson J, Taenzer P, Velly A, Ware MA, Weinberg EL, Williamson OD
 タイトル      Pharmacological management of chronic neuropathic pain: revised consensus statement from the Canadian Pain Society.
 雑誌        Pain Res Manag 19:328-35 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/754693"">10.1155/2014/754693</a>"
H01639,子宮内膜症,,,"Endometriosis is defined as the growth of the endometrial glands and stroma at extra-uterine sites, which are most commonly implanted over and under visceral and peritoneal surfaces within the female pelvis but which can also be found in the connective tissue in the pelvis areas and, more rarely, in any anatomic district. It is a major cause of infertility, dysmenorrhea, dyspareunia, and chronic pelvic pain, mediated by marked pelvic inflammation. While retrograde menstruation is the most widely accepted cause, its pathogenesis and natural course are not fully understood. Endometriosis is known to be an estrogen-dependent disease, manifests during reproductive years.",生殖系疾患,,,,"2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) [CPD:C07557]
 Polyhalogenated aromatic hydrocarbon chemicals (PHAHs)
 Polychlorinated biphenyls (PCBs)",,"ジドロゲステロン [DR:D01217]
 ノルゲストレル・エチニルエストラジオール [DR:D04463]
 ジエノゲスト [DR:D03799]
 ダナゾール [DR:D00289]
 ナファレリン酢酸塩水和物 [DR:D00990]
 ブセレリン酢酸塩 [DR:D01831]
 リュープロレリン酢酸塩 [DR:D00989]
 ゴセレリン酢酸塩 [DR:D00573]
 レルゴリクス [DR:D10888]
 桂枝茯苓丸エキス [DR:D06949]",,"ICD-11: GA10
 ICD-10: N80
 MeSH: D004715","PMID:24927773
 著者        Aznaurova YB, Zhumataev MB, Roberts TK, Aliper AM, Zhavoronkov AA
 タイトル      Molecular aspects of development and regulation of endometriosis.
 雑誌        Reprod Biol Endocrinol 12:50 (2014)
 DOI:10.1186/1477-7827-12-50
 PMID:24366116
 著者        Vercellini P, Vigano P, Somigliana E, Fedele L
 タイトル      Endometriosis: pathogenesis and treatment.
 雑誌        Nat Rev Endocrinol 10:261-75 (2014)
 DOI:10.1038/nrendo.2013.255
 PMID:26125255
 著者        Soave I, Caserta D, Wenger JM, Dessole S, Perino A, Marci R
 タイトル      Environment and Endometriosis: a toxic relationship.
 雑誌        Eur Rev Med Pharmacol Sci 19:1964-72 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01639"">H01639</a>",子宮内膜症,"Endometriosis is defined as the growth of the endometrial glands and stroma at extra-uterine sites, which are most commonly implanted over and under visceral and peritoneal surfaces within the female pelvis but which can also be found in the connective tissue in the pelvis areas and, more rarely, in any anatomic district. It is a major cause of infertility, dysmenorrhea, dyspareunia, and chronic pelvic pain, mediated by marked pelvic inflammation. While retrograde menstruation is the most widely accepted cause, its pathogenesis and natural course are not fully understood. Endometriosis is known to be an estrogen-dependent disease, manifests during reproductive years.",,,,"2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07557"">C07557</a>]
 Polyhalogenated aromatic hydrocarbon chemicals (PHAHs)
 Polychlorinated biphenyls (PCBs)",,"ジドロゲステロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01217"">D01217</a>]
 ノルゲストレル・エチニルエストラジオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04463"">D04463</a>]
 ジエノゲスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03799"">D03799</a>]
 ダナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00289"">D00289</a>]
 ナファレリン酢酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00990"">D00990</a>]
 ブセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01831"">D01831</a>]
 リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]
 ゴセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00573"">D00573</a>]
 レルゴリクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10888"">D10888</a>]
 桂枝茯苓丸エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06949"">D06949</a>]",,"ICD-11: GA10
 ICD-10: N80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004715"">D004715</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24927773"">24927773</a>
 著者        Aznaurova YB, Zhumataev MB, Roberts TK, Aliper AM, Zhavoronkov AA
 タイトル      Molecular aspects of development and regulation of endometriosis.
 雑誌        Reprod Biol Endocrinol 12:50 (2014)
 DOI:<a href=""https://doi.org/10.1186/1477-7827-12-50"">10.1186/1477-7827-12-50</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24366116"">24366116</a>
 著者        Vercellini P, Vigano P, Somigliana E, Fedele L
 タイトル      Endometriosis: pathogenesis and treatment.
 雑誌        Nat Rev Endocrinol 10:261-75 (2014)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2013.255"">10.1038/nrendo.2013.255</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26125255"">26125255</a>
 著者        Soave I, Caserta D, Wenger JM, Dessole S, Perino A, Marci R
 タイトル      Environment and Endometriosis: a toxic relationship.
 雑誌        Eur Rev Med Pharmacol Sci 19:1964-72 (2015)"
H01640,子宮筋腫,,,"Uterine leiomyoma, also known as fibroid, is the most common benign neoplasm of the female genital tract. It is a discrete, round, firm, often multiple uterine tumor composed of smooth muscle and connective tissue. The findings derived from high-throughput sequencing combined with previous knowledge have led to an emerging molecular classification of leiomyomas, suggesting that there are several distinct pathogenic pathways involved in leiomyoma formation. The evidence points to at least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. While it is thought that the initial events that trigger leiomyoma tumorigenesis involves somatic mutations, it is evident that the development and growth of leiomyoma are highly dependent on ovarian steroid hormones, in particular, progesterone.",生殖系疾患,,"HMGA2 (rearrangement) [HSA:8091] [KO:K09283]
 MED12 (mutation) [HSA:9968] [KO:K15162]
 COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237]
 Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679]",,,,"ナファレリン酢酸塩水和物 [DR:D00990]
 ブセレリン酢酸塩 [DR:D01831]
 リュープロレリン酢酸塩 [DR:D00989]
 レルゴリクス [DR:D10888]",,"ICD-11: 2E86.0
 ICD-10: D25
 MeSH: D007889
 OMIM: 150699","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:21672608
 著者        Kim JJ, Sefton EC
 タイトル      The role of progesterone signaling in the pathogenesis of uterine leiomyoma.
 雑誌        Mol Cell Endocrinol 358:223-31 (2012)
 DOI:10.1016/j.mce.2011.05.044
 PMID:25106763
 著者        Mehine M, Makinen N, Heinonen HR, Aaltonen LA, Vahteristo P
 タイトル      Genomics of uterine leiomyomas: insights from high-throughput sequencing.
 雑誌        Fertil Steril 102:621-9 (2014)
 DOI:10.1016/j.fertnstert.2014.06.050
 PMID:17613550
 著者        Hodge JC, Morton CC
 タイトル      Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
 雑誌        Hum Mol Genet 16 Spec No 1:R7-13 (2007)
 DOI:10.1093/hmg/ddm043
 PMID:25205766 (drug)
 著者        Moravek MB, Yin P, Ono M, Coon JS 5th, Dyson MT, Navarro A, Marsh EE, Chakravarti D, Kim JJ, Wei JJ, Bulun SE
 タイトル      Ovarian steroids, stem cells and uterine leiomyoma: therapeutic implications.
 雑誌        Hum Reprod Update 21:1-12 (2015)
 DOI:10.1093/humupd/dmu048
 PMID:26236472
 著者        Taylor DK, Holthouser K, Segars JH, Leppert PC
 タイトル      Recent scientific advances in leiomyoma (uterine fibroids) research facilitates better understanding and management.
 雑誌        F1000Res 4:183 (2015)
 DOI:10.12688/f1000research.6189.1
 PMID:24819877
 著者        Doherty L, Mutlu L, Sinclair D, Taylor H
 タイトル      Uterine fibroids: clinical manifestations and contemporary management.
 雑誌        Reprod Sci 21:1067-92 (2014)
 DOI:10.1177/1933719114533728","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01640"">H01640</a>",子宮筋腫,"Uterine leiomyoma, also known as fibroid, is the most common benign neoplasm of the female genital tract. It is a discrete, round, firm, often multiple uterine tumor composed of smooth muscle and connective tissue. The findings derived from high-throughput sequencing combined with previous knowledge have led to an emerging molecular classification of leiomyomas, suggesting that there are several distinct pathogenic pathways involved in leiomyoma formation. The evidence points to at least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. While it is thought that the initial events that trigger leiomyoma tumorigenesis involves somatic mutations, it is evident that the development and growth of leiomyoma are highly dependent on ovarian steroid hormones, in particular, progesterone.",,"HMGA2 (rearrangement) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8091"">8091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09283"">K09283</a>]
 MED12 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9968"">9968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15162"">K15162</a>]
 COL4A6-COL4A5 (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1288"">1288</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1287"">1287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 Fumarate hydratase (FH) (inactivation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]",,,,"ナファレリン酢酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00990"">D00990</a>]
 ブセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01831"">D01831</a>]
 リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]
 レルゴリクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10888"">D10888</a>]",,"ICD-11: 2E86.0
 ICD-10: D25
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007889"">D007889</a>
 OMIM: <a href=""https://www.omim.org/entry/150699"">150699</a>","(drug)
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21672608"">21672608</a>
 著者        Kim JJ, Sefton EC
 タイトル      The role of progesterone signaling in the pathogenesis of uterine leiomyoma.
 雑誌        Mol Cell Endocrinol 358:223-31 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2011.05.044"">10.1016/j.mce.2011.05.044</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25106763"">25106763</a>
 著者        Mehine M, Makinen N, Heinonen HR, Aaltonen LA, Vahteristo P
 タイトル      Genomics of uterine leiomyomas: insights from high-throughput sequencing.
 雑誌        Fertil Steril 102:621-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.fertnstert.2014.06.050"">10.1016/j.fertnstert.2014.06.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17613550"">17613550</a>
 著者        Hodge JC, Morton CC
 タイトル      Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
 雑誌        Hum Mol Genet 16 Spec No 1:R7-13 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm043"">10.1093/hmg/ddm043</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25205766"">25205766</a> (drug)
 著者        Moravek MB, Yin P, Ono M, Coon JS 5th, Dyson MT, Navarro A, Marsh EE, Chakravarti D, Kim JJ, Wei JJ, Bulun SE
 タイトル      Ovarian steroids, stem cells and uterine leiomyoma: therapeutic implications.
 雑誌        Hum Reprod Update 21:1-12 (2015)
 DOI:<a href=""https://doi.org/10.1093/humupd/dmu048"">10.1093/humupd/dmu048</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26236472"">26236472</a>
 著者        Taylor DK, Holthouser K, Segars JH, Leppert PC
 タイトル      Recent scientific advances in leiomyoma (uterine fibroids) research facilitates better understanding and management.
 雑誌        F1000Res 4:183 (2015)
 DOI:<a href=""https://doi.org/10.12688/f1000research.6189.1"">10.12688/f1000research.6189.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24819877"">24819877</a>
 著者        Doherty L, Mutlu L, Sinclair D, Taylor H
 タイトル      Uterine fibroids: clinical manifestations and contemporary management.
 雑誌        Reprod Sci 21:1067-92 (2014)
 DOI:<a href=""https://doi.org/10.1177/1933719114533728"">10.1177/1933719114533728</a>"
H01641,ドライアイ,,,"Dry eye disease (also called keratoconjunctivitis sicca) is multifactorial disease of the tears, lids, and ocular surface which can result in symptoms of discomfort and/or visual disturbance and/or tear film instability with the potential for damage to the ocular surface. It is accompanied by increased osmolarity of the tear film and subacute inflammation of the ocular surface. Dry eye disease is subdivided into two forms, aqueous insufficiency (tear deficiency) and hyperevaporative (increased evaporation). However, mixed forms are common. Aqueous insufficiency is divided into two main groups: Sjogren's syndrome-related dry eye and non-Sjogren's syndrome-related dry eye (which includes the use of systemic medication). Dry eye in Sjogren's syndrome (an autoimmune disease) [DS:H01502] is often severe and requires more aggressive treatment. Evapourative dry eye is most commonly a result of meibomian gland dysfunction. Tests used to diagnose dry eye disease and to assess efficacy of treatments in clinical trials include the following: measurement of tear film break-up time (the interval between the individual's last complete blink and the break up of the tear film) using fluorescein (shortened in dry eye disease), evaluation of tear quantity with Schirmer's test (using a strip of filter paper placed under the lower eyelid), assessment of corneal and conjunctival epithelium integrity using stains and dyes, and evaluation of meibomian glands. Artificial tears of various kinds are recommended if the symptoms are mild. Lid hygiene is helpful in the treatment of hyperevaporative dry eye, while collagen or silicon plugs can be used for partial occlusion of the efferent lacrimal ducts to treat severe hyposecretory dry eye. The benefit of long-term topical anti-inflammatory treatment of moderate or severe dry eye disease with corticosteroids or cyclosporine A eye drops has been documented in clinical trials on a high evidence level. Orally administered tetraycycline derivatives and omega-3 or omega-6 fatty acids are also used.",神経系疾患,,,,,,"レバミピド [DR:D01121]
 精製ヒアルロン酸ナトリウム [DR:D03354]
 ホウ酸・無機塩類 [DR:D04113]
 ジクアホソルナトリウム [DR:D03864]",,"ICD-11: 9A79
 ICD-10: H04.1
 MeSH: D015352","PMID:25686388 (description, drug)
 著者        Messmer EM
 タイトル      The pathophysiology, diagnosis, and treatment of dry eye disease.
 雑誌        Dtsch Arztebl Int 112:71-81; quiz 82 (2015)
 DOI:10.3238/arztebl.2015.0071
 PMID:27146709
 タイトル      The management of dry eye.
 雑誌        BMJ 353:i2333 (2016)
 DOI:10.1136/bmj.i2333","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01641"">H01641</a>",ドライアイ,"Dry eye disease (also called keratoconjunctivitis sicca) is multifactorial disease of the tears, lids, and ocular surface which can result in symptoms of discomfort and/or visual disturbance and/or tear film instability with the potential for damage to the ocular surface. It is accompanied by increased osmolarity of the tear film and subacute inflammation of the ocular surface. Dry eye disease is subdivided into two forms, aqueous insufficiency (tear deficiency) and hyperevaporative (increased evaporation). However, mixed forms are common. Aqueous insufficiency is divided into two main groups: Sjogren's syndrome-related dry eye and non-Sjogren's syndrome-related dry eye (which includes the use of systemic medication). Dry eye in Sjogren's syndrome (an autoimmune disease) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01502"">H01502</a>] is often severe and requires more aggressive treatment. Evapourative dry eye is most commonly a result of meibomian gland dysfunction. Tests used to diagnose dry eye disease and to assess efficacy of treatments in clinical trials include the following: measurement of tear film break-up time (the interval between the individual's last complete blink and the break up of the tear film) using fluorescein (shortened in dry eye disease), evaluation of tear quantity with Schirmer's test (using a strip of filter paper placed under the lower eyelid), assessment of corneal and conjunctival epithelium integrity using stains and dyes, and evaluation of meibomian glands. Artificial tears of various kinds are recommended if the symptoms are mild. Lid hygiene is helpful in the treatment of hyperevaporative dry eye, while collagen or silicon plugs can be used for partial occlusion of the efferent lacrimal ducts to treat severe hyposecretory dry eye. The benefit of long-term topical anti-inflammatory treatment of moderate or severe dry eye disease with corticosteroids or cyclosporine A eye drops has been documented in clinical trials on a high evidence level. Orally administered tetraycycline derivatives and omega-3 or omega-6 fatty acids are also used.",,,,,,"レバミピド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01121"">D01121</a>]
 精製ヒアルロン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03354"">D03354</a>]
 ホウ酸・無機塩類 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04113"">D04113</a>]
 ジクアホソルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03864"">D03864</a>]",,"ICD-11: 9A79
 ICD-10: H04.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015352"">D015352</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25686388"">25686388</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Messmer EM
 タイトル      The pathophysiology, diagnosis, and treatment of dry eye disease.
 雑誌        Dtsch Arztebl Int 112:71-81; quiz 82 (2015)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2015.0071"">10.3238/arztebl.2015.0071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27146709"">27146709</a>
 タイトル      The management of dry eye.
 雑誌        BMJ 353:i2333 (2016)
 DOI:<a href=""https://doi.org/10.1136/bmj.i2333"">10.1136/bmj.i2333</a>"
H01642,腎性貧血,,,"Renal anemia is one of the most frequent complications of chronic kidney disease. Anemia leads to a decrease in oxygen delivery to vital organs, which is initially compensated for by tachycardia and cardiac hypertrophy, but eventually leads to the development of cardiovascular disease. Renal anemia is caused by the deficiency of endogenous erythropoietin (EPO) due to renal dysfunction. EPO is a glycoprotein hormone that has the role of the primary regulator of erythropoiesis. Formerly, treatment options were essentially limited to blood transfusions and androgen therapy, with its risks. However, since the late 1980s, the availability of recombinant human erythropoietin has revolutionized the management of renal anemia, and erythropoiesis-stimulating agents (ESAs) are now the mostly widely used drugs.",泌尿器系疾患,,,,,,"テストステロンエナント酸エステル [DR:D00958]
 メピチオスタン [DR:D01602]
 エポエチンアルファ [DR:D03231]
 エポエチンベータ [DR:D03232]
 ダルベポエチンアルファ [DR:D03651]
 エポエチンベータペゴル [DR:D09998]
 ロキサデュスタット [DR:D10593]
 ダプロデュスタット [DR:D10874]
 バダデュスタット [DR:D11078]
 モリデュスタットナトリウム [DR:D11273]
 エナロデュスタット [DR:D11523]",,"ICD-11: 3A71.2
 ICD-10: N19
 MeSH: D007676","PMID:26381503
 著者        Mimura I, Tanaka T, Nangaku M
 タイトル      How the Target Hemoglobin of Renal Anemia Should Be.
 雑誌        Nephron 131:202-9 (2015)
 DOI:10.1159/000440849
 PMID:16281953
 著者        Eckardt KU, Kurtz A
 タイトル      Regulation of erythropoietin production.
 雑誌        Eur J Clin Invest 35 Suppl 3:13-9 (2005)
 DOI:10.1111/j.1365-2362.2005.01525.x
 PMID:26456375 (drug)
 著者        Kawahara K, Minakuchi J, Yokota N, Suekane H, Tsuchida K, Kawashima S
 タイトル      Treatment of renal anaemia with erythropoiesis-stimulating agents in predialysis chronic kidney disease patients: Haemoglobin profile during the 6 months before initiation of dialysis.
 雑誌        Nephrology (Carlton) 20 Suppl 4:29-32 (2015)
 DOI:10.1111/nep.12647
 PMID:21930831 (drug)
 著者        Locatelli F, Del Vecchio L
 タイトル      Erythropoiesis-stimulating agents in renal medicine.
 雑誌        Oncologist 16 Suppl 3:19-24 (2011)
 DOI:10.1634/theoncologist.2011-S3-19","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01642"">H01642</a>",腎性貧血,"Renal anemia is one of the most frequent complications of chronic kidney disease. Anemia leads to a decrease in oxygen delivery to vital organs, which is initially compensated for by tachycardia and cardiac hypertrophy, but eventually leads to the development of cardiovascular disease. Renal anemia is caused by the deficiency of endogenous erythropoietin (EPO) due to renal dysfunction. EPO is a glycoprotein hormone that has the role of the primary regulator of erythropoiesis. Formerly, treatment options were essentially limited to blood transfusions and androgen therapy, with its risks. However, since the late 1980s, the availability of recombinant human erythropoietin has revolutionized the management of renal anemia, and erythropoiesis-stimulating agents (ESAs) are now the mostly widely used drugs.",,,,,,"テストステロンエナント酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00958"">D00958</a>]
 メピチオスタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01602"">D01602</a>]
 エポエチンアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03231"">D03231</a>]
 エポエチンベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03232"">D03232</a>]
 ダルベポエチンアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03651"">D03651</a>]
 エポエチンベータペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09998"">D09998</a>]
 ロキサデュスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10593"">D10593</a>]
 ダプロデュスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10874"">D10874</a>]
 バダデュスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11078"">D11078</a>]
 モリデュスタットナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11273"">D11273</a>]
 エナロデュスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11523"">D11523</a>]",,"ICD-11: 3A71.2
 ICD-10: N19
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007676"">D007676</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26381503"">26381503</a>
 著者        Mimura I, Tanaka T, Nangaku M
 タイトル      How the Target Hemoglobin of Renal Anemia Should Be.
 雑誌        Nephron 131:202-9 (2015)
 DOI:<a href=""https://doi.org/10.1159/000440849"">10.1159/000440849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16281953"">16281953</a>
 著者        Eckardt KU, Kurtz A
 タイトル      Regulation of erythropoietin production.
 雑誌        Eur J Clin Invest 35 Suppl 3:13-9 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2362.2005.01525.x"">10.1111/j.1365-2362.2005.01525.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26456375"">26456375</a> (drug)
 著者        Kawahara K, Minakuchi J, Yokota N, Suekane H, Tsuchida K, Kawashima S
 タイトル      Treatment of renal anaemia with erythropoiesis-stimulating agents in predialysis chronic kidney disease patients: Haemoglobin profile during the 6 months before initiation of dialysis.
 雑誌        Nephrology (Carlton) 20 Suppl 4:29-32 (2015)
 DOI:<a href=""https://doi.org/10.1111/nep.12647"">10.1111/nep.12647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21930831"">21930831</a> (drug)
 著者        Locatelli F, Del Vecchio L
 タイトル      Erythropoiesis-stimulating agents in renal medicine.
 雑誌        Oncologist 16 Suppl 3:19-24 (2011)
 DOI:<a href=""https://doi.org/10.1634/theoncologist.2011-S3-19"">10.1634/theoncologist.2011-S3-19</a>"
H01643,凍瘡,,,"Chilblains, or pernio, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. It is characterized by persistent purple or purple-red nodules on acral skin, most commonly the feet. Chilblains occurs most commonly among young women between the ages of 15 and 30 years but may occur among older individuals or children. Treatment of chilblains is focused on keeping the affected area warm, and occasionally using vasodilator agents.",皮膚と軟部組織の疾患,,,,,,"イソクスプリン塩酸塩 [DR:D01748]
 トリアムシノロンアセトニド [DR:D00983]
 ヘプロニカート [DR:D01882]
 ニコモール [DR:D01291]
 幼牛血液抽出物 [DR:D04372]
 dl-カンフル [DR:D00098]
 dl-カンフル・エタノール [DR:D06620]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ヘパリン類似物質 [DR:D04799]
 トコフェロール・ビタミンA [DR:D04805]
 トウガラシチンキ [DR:D06455]
 ニコチン酸アミド [DR:D00036]
 ニコチン酸 [DR:D00049]
 トコフェロール酢酸エステル [DR:D01735]
 桂枝茯苓丸エキス [DR:D06949]
 当帰四逆加呉茱萸生姜湯 [DR:D07020]",,"ICD-11: NF03.0
 ICD-10: T69.1
 MeSH: D002647","PMID:16140694
 著者        Simon TD, Soep JB, Hollister JR
 タイトル      Pernio in pediatrics.
 雑誌        Pediatrics 116:e472-5 (2005)
 DOI:10.1542/peds.2004-2681
 PMID:26991468
 著者        Al-Sudany NK
 タイトル      Treatment of primary perniosis with oral pentoxifylline (a double-blind placebo-controlled randomized therapeutic trial).
 雑誌        Dermatol Ther 29:263-8 (2016)
 DOI:10.1111/dth.12350","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01643"">H01643</a>",凍瘡,"Chilblains, or pernio, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. It is characterized by persistent purple or purple-red nodules on acral skin, most commonly the feet. Chilblains occurs most commonly among young women between the ages of 15 and 30 years but may occur among older individuals or children. Treatment of chilblains is focused on keeping the affected area warm, and occasionally using vasodilator agents.",,,,,,"イソクスプリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01748"">D01748</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヘプロニカート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01882"">D01882</a>]
 ニコモール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01291"">D01291</a>]
 幼牛血液抽出物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04372"">D04372</a>]
 dl-カンフル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00098"">D00098</a>]
 dl-カンフル・エタノール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06620"">D06620</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ヘパリン類似物質 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04799"">D04799</a>]
 トコフェロール・ビタミンA [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04805"">D04805</a>]
 トウガラシチンキ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06455"">D06455</a>]
 ニコチン酸アミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00036"">D00036</a>]
 ニコチン酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00049"">D00049</a>]
 トコフェロール酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01735"">D01735</a>]
 桂枝茯苓丸エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06949"">D06949</a>]
 当帰四逆加呉茱萸生姜湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07020"">D07020</a>]",,"ICD-11: NF03.0
 ICD-10: T69.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002647"">D002647</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16140694"">16140694</a>
 著者        Simon TD, Soep JB, Hollister JR
 タイトル      Pernio in pediatrics.
 雑誌        Pediatrics 116:e472-5 (2005)
 DOI:<a href=""https://doi.org/10.1542/peds.2004-2681"">10.1542/peds.2004-2681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26991468"">26991468</a>
 著者        Al-Sudany NK
 タイトル      Treatment of primary perniosis with oral pentoxifylline (a double-blind placebo-controlled randomized therapeutic trial).
 雑誌        Dermatol Ther 29:263-8 (2016)
 DOI:<a href=""https://doi.org/10.1111/dth.12350"">10.1111/dth.12350</a>"
H01644,眼瞼炎,,,"Blepharitis is a chronic inflammatory condition of the eyelids associated with itchiness, redness, flaking, and crusting. It is among the most common ocular conditions affecting both children and adults. The etiology is complex and not fully understood, but the general consensus is that bacteria and inflammation contribute to the pathology. Blepharitis can be classified into anterior blepharitis and posterior blepharitis. Anterior blepharitis describes inflammation of the eyelid skin and eyelash follicles and may be accompanied by squamous debris or collarettes. Anterior blepharitis has classically been associated with Staphylococcus infection and seborrheic dermatitis. Posterior blepharitis describes inflammation of the meibomian glands and their orifices and may be a result of or cause of meibomian gland dysfunction (MGD). MGD is one cause of posterior blepharitis but others include infectious or allergic conjunctivitis, and rosacea. The diagnosis of blepharitis is almost always based on the history and clinical examination. Long-term management of symptoms may include daily eyelid cleansing routines and the use of therapeutic agents that reduce infection and inflammation. Recent clinical trials have shown that antibiotics and topical corticosteroids can produce significant improvement in signs and symptoms of blepharitis.",神経系疾患,,,,,,"プラノプロフェン [DR:D01578]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 フルオロメトロン [DR:D01367]
 クロラムフェニコール [DR:D00104]
 ゲンタマイシン硫酸塩 [DR:D01063]
 セフメノキシム塩酸塩 [DR:D01739]
 アジスロマイシン水和物 [DR:D02134]
 トブラマイシン [DR:D00063]
 ジベカシン硫酸塩 [DR:D01753]
 トリアムシノロンアセトニド [DR:D00983]
 ロメフロキサシン塩酸塩 [DR:D00873]
 レボフロキサシン水和物 [DR:D00588]
 モキシフロキサシン塩酸塩 [DR:D00874]
 ガチフロキサシン水和物 [DR:D00589]
 エリスロマイシンラクトビオン酸塩・コリスチンメタンスルホン酸ナトリウム [DR:D04099]
 クロラムフェニコール・コリスチンメタンスルホン酸ナトリウム [DR:D04106]
 テトラサイクリン塩酸塩 [DR:D02122]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 バンコマイシン塩酸塩 [DR:D00926]",,"ICD-11: 9A01.3 9A02.1
 ICD-10: H01.0 H01.1
 MeSH: D001762","PMID:26058027
 著者        Duncan K, Jeng BH
 タイトル      Medical management of blepharitis.
 雑誌        Curr Opin Ophthalmol 26:289-94 (2015)
 DOI:10.1097/ICU.0000000000000164
 PMID:25284773 (description, drug)
 著者        Pflugfelder SC, Karpecki PM, Perez VL
 タイトル      Treatment of blepharitis: recent clinical trials.
 雑誌        Ocul Surf 12:273-84 (2014)
 DOI:10.1016/j.jtos.2014.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01644"">H01644</a>",眼瞼炎,"Blepharitis is a chronic inflammatory condition of the eyelids associated with itchiness, redness, flaking, and crusting. It is among the most common ocular conditions affecting both children and adults. The etiology is complex and not fully understood, but the general consensus is that bacteria and inflammation contribute to the pathology. Blepharitis can be classified into anterior blepharitis and posterior blepharitis. Anterior blepharitis describes inflammation of the eyelid skin and eyelash follicles and may be accompanied by squamous debris or collarettes. Anterior blepharitis has classically been associated with Staphylococcus infection and seborrheic dermatitis. Posterior blepharitis describes inflammation of the meibomian glands and their orifices and may be a result of or cause of meibomian gland dysfunction (MGD). MGD is one cause of posterior blepharitis but others include infectious or allergic conjunctivitis, and rosacea. The diagnosis of blepharitis is almost always based on the history and clinical examination. Long-term management of symptoms may include daily eyelid cleansing routines and the use of therapeutic agents that reduce infection and inflammation. Recent clinical trials have shown that antibiotics and topical corticosteroids can produce significant improvement in signs and symptoms of blepharitis.",,,,,,"プラノプロフェン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01578"">D01578</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 フルオロメトロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01367"">D01367</a>]
 クロラムフェニコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00104"">D00104</a>]
 ゲンタマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01063"">D01063</a>]
 セフメノキシム塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01739"">D01739</a>]
 アジスロマイシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02134"">D02134</a>]
 トブラマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00063"">D00063</a>]
 ジベカシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01753"">D01753</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ロメフロキサシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00873"">D00873</a>]
 レボフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00588"">D00588</a>]
 モキシフロキサシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00874"">D00874</a>]
 ガチフロキサシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00589"">D00589</a>]
 エリスロマイシンラクトビオン酸塩・コリスチンメタンスルホン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04099"">D04099</a>]
 クロラムフェニコール・コリスチンメタンスルホン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04106"">D04106</a>]
 テトラサイクリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02122"">D02122</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 バンコマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00926"">D00926</a>]",,"ICD-11: 9A01.3 9A02.1
 ICD-10: H01.0 H01.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001762"">D001762</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26058027"">26058027</a>
 著者        Duncan K, Jeng BH
 タイトル      Medical management of blepharitis.
 雑誌        Curr Opin Ophthalmol 26:289-94 (2015)
 DOI:<a href=""https://doi.org/10.1097/ICU.0000000000000164"">10.1097/ICU.0000000000000164</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25284773"">25284773</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Pflugfelder SC, Karpecki PM, Perez VL
 タイトル      Treatment of blepharitis: recent clinical trials.
 雑誌        Ocul Surf 12:273-84 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jtos.2014.05.005"">10.1016/j.jtos.2014.05.005</a>"
H01645,"甲状腺機能亢進症;
 甲状腺中毒症",,,"Hyperthyroidism is a pathological disorder characterised by increased thyroid hormone synthesis and secretion from the thyroid gland. The term thyrotoxicosis is not synonymous with hyperthyroidism. Thyrotoxicosis is defined as the clinical syndrome of hypermetabolism resulting from increased thyroid hormone levels, irrespective of the source. The causes of hyperthyroidism include Graves' disease, toxic multinodular goiter, and solitary toxic adenoma. Less common causes of hyperthyroidism include thyrotropin-induced thyrotoxicosis and trophoblastic tumours. The causes of thyrotoxicosis without hyperthyroidism are less common and generally transient. In patients with silent thyroiditis, post-partum thyroiditis, or subacute painful thyroiditis, the destruction of thyrocytes leads to release of preformed hormones into the circulation. Drug-induced thyrotoxicosis has the same pathogenic mechanism as thyroiditis. Exogenous thyrotoxicosis develops after ingestion of excessive amounts of thyroid hormone, and is associated with low serum thyroglobulin concentrations. Patients of hyperthyroidism/thyrotoxicosis usually have fatigue, nervousness or anxiety, weight loss, palpitations, and heat sensitivity. Clinical findings almost always include tachycardia, warm moist skin, the presence of an enlarged thyroid, and a slight tremor. The three options for treating patients with hyperthyroidism are antithyroid drugs (ATDs), radioactive iodine ablation, and surgery. All three therapeutic options would be effective in the treatment of patients with Graves' disease, whereas patients with toxic adenoma or toxic multinodular goiter should have either radioactive iodine therapy or surgery, since these patients rarely go into remission. In patients with toxic nodular goiter, ATDs are generally used to restore euthyroidism before definitive treatment with surgery or radioactive iodine, and infrequently used as long-term treatment when the other two therapies are contraindicated or the patient has a short life expectancy.",内分泌疾患,,,,"Lithium [CPD:C07964]
 Interferon alfa
 Amiodarone [CPD:C06823]",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シアノコバラミン [DR:D00166]
 プロピルチオウラシル [DR:D00562]
 チアマゾール [DR:D00401]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 パンテチン [DR:D01234]
 ヒドロキソコバラミン酢酸塩 [DR:D02707]
 コバマミド [DR:D00042]
 ヨウ化ナトリウム (131I) [DR:D02259]",,"ICD-11: 5A02
 ICD-10: E05
 MeSH: D006980 D013971","PMID:27038492 (description, env_factor, drug)
 著者        De Leo S, Lee SY, Braverman LE
 タイトル      Hyperthyroidism.
 雑誌        Lancet 388:906-918 (2016)
 DOI:10.1016/S0140-6736(16)00278-6
 PMID:12927435
 著者        Cooper DS
 タイトル      Hyperthyroidism.
 雑誌        Lancet 362:459-68 (2003)
 DOI:10.1016/S0140-6736(03)14073-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645"">H01645</a>","甲状腺機能亢進症;
 甲状腺中毒症","Hyperthyroidism is a pathological disorder characterised by increased thyroid hormone synthesis and secretion from the thyroid gland. The term thyrotoxicosis is not synonymous with hyperthyroidism. Thyrotoxicosis is defined as the clinical syndrome of hypermetabolism resulting from increased thyroid hormone levels, irrespective of the source. The causes of hyperthyroidism include Graves' disease, toxic multinodular goiter, and solitary toxic adenoma. Less common causes of hyperthyroidism include thyrotropin-induced thyrotoxicosis and trophoblastic tumours. The causes of thyrotoxicosis without hyperthyroidism are less common and generally transient. In patients with silent thyroiditis, post-partum thyroiditis, or subacute painful thyroiditis, the destruction of thyrocytes leads to release of preformed hormones into the circulation. Drug-induced thyrotoxicosis has the same pathogenic mechanism as thyroiditis. Exogenous thyrotoxicosis develops after ingestion of excessive amounts of thyroid hormone, and is associated with low serum thyroglobulin concentrations. Patients of hyperthyroidism/thyrotoxicosis usually have fatigue, nervousness or anxiety, weight loss, palpitations, and heat sensitivity. Clinical findings almost always include tachycardia, warm moist skin, the presence of an enlarged thyroid, and a slight tremor. The three options for treating patients with hyperthyroidism are antithyroid drugs (ATDs), radioactive iodine ablation, and surgery. All three therapeutic options would be effective in the treatment of patients with Graves' disease, whereas patients with toxic adenoma or toxic multinodular goiter should have either radioactive iodine therapy or surgery, since these patients rarely go into remission. In patients with toxic nodular goiter, ATDs are generally used to restore euthyroidism before definitive treatment with surgery or radioactive iodine, and infrequently used as long-term treatment when the other two therapies are contraindicated or the patient has a short life expectancy.",,,,"Lithium [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07964"">C07964</a>]
 Interferon alfa
 Amiodarone [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06823"">C06823</a>]",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シアノコバラミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00166"">D00166</a>]
 プロピルチオウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00562"">D00562</a>]
 チアマゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00401"">D00401</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 パンテチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01234"">D01234</a>]
 ヒドロキソコバラミン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02707"">D02707</a>]
 コバマミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00042"">D00042</a>]
 ヨウ化ナトリウム (131I) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02259"">D02259</a>]",,"ICD-11: 5A02
 ICD-10: E05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006980"">D006980</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013971"">D013971</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27038492"">27038492</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        De Leo S, Lee SY, Braverman LE
 タイトル      Hyperthyroidism.
 雑誌        Lancet 388:906-918 (2016)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(16)00278-6"">10.1016/S0140-6736(16)00278-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12927435"">12927435</a>
 著者        Cooper DS
 タイトル      Hyperthyroidism.
 雑誌        Lancet 362:459-68 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(03)14073-1"">10.1016/S0140-6736(03)14073-1</a>"
H01646,うつ病,,,"Major depressive disorder (MDD) is the most common psychiatric disorder mainly characterized by depressed mood, loss of interest, feelings of worthlessness, and a high risk of suicide. Accumulated evidence suggests that both environmental and genetic factors are involved in the etiology of MDD although the pathogenesis of MDD remains unknown. Mutations in genes involved in brain serotonin synthesis, have been identified in patients. Brain serotonin deficiency has been hypothesized to play a role in a wide range of psychiatric diseases, including MDD. Several efficacious treatments for MDD are available, including different forms of psychotherapy and antidepressant medication. Recently, selective reuptake inhibitors (SSRIs, SNRIs,) have become the first-line antidepressant drug treatment of depression and replaced tricyclic antidepressants (TCA) and monoamine oxidase inhibitors (MAOI) due to fewer side-effects and ease of use.",精神及び行動の障害,,"TPH2 [HSA:121278] [KO:K00502]
 HTR2A [HSA:3356] [KO:K04157]
 FKBP5 [HSA:2289] [KO:K09571]",,,,"ジアゼパム [DR:D00293]
 クロルジアゼポキシド [DR:D00267]
 ブロマゼパム [DR:D01245]
 メタンフェタミン塩酸塩 [DR:D02242]
 レボメプロマジン塩酸塩 [DR:D01520]
 レボメプロマジンマレイン酸塩 [DR:D02248]
 イミプラミン塩酸塩 [DR:D00815]
 クロミプラミン塩酸塩 [DR:D00811]
 トリミプラミンマレイン酸塩 [DR:D02408]
 ロフェプラミン塩酸塩 [DR:D01285]
 スルピリド [DR:D01226]
 アリピプラゾール [DR:D01164]
 エチゾラム [DR:D01514]
 アミトリプチリン塩酸塩 [DR:D00809]
 ノルトリプチリン塩酸塩 [DR:D00816]
 ドスレピン塩酸塩 [DR:D01546]
 アモキサピン [DR:D00228]
 マプロチリン塩酸塩 [DR:D00818]
 パロキセチン塩酸塩水和物 [DR:D02260]
 セルトラリン塩酸塩 [DR:D00825]
 フルボキサミンマレイン酸塩 [DR:D00824]
 エスシタロプラムシュウ酸塩 [DR:D02567]
 トラゾドン塩酸塩 [DR:D00820]
 ベンラファキシン塩酸塩 [DR:D00821]
 塩酸デュロキセチン [DR:D01179]
 ボルチオキセチン臭化水素酸塩 [DR:D10185]
 ペモリン [DR:D00744]
 セチプチリンマレイン酸塩 [DR:D02034]",,"ICD-11: 6A70 6A71
 ICD-10: F32 F33
 MeSH: D003863
 OMIM: 608516","PMID:27497214
 著者        Hou Z, Song X, Jiang W, Yue Y, Yin Y, Zhang Y, Liu Y, Yuan Y
 タイトル      Prognostic value of imbalanced interhemispheric functional coordination in early therapeutic efficacy in major depressive disorder.
 雑誌        Psychiatry Res 255:1-8 (2016)
 DOI:10.1016/j.pscychresns.2016.07.011
 PMID:25602134
 著者        Sachs BD, Rodriguiz RM, Tran HL, Iyer A, Wetsel WC, Caron MG
 タイトル      Serotonin deficiency alters susceptibility to the long-term consequences of adverse early life experience.
 雑誌        Psychoneuroendocrinology 53:69-81 (2015)
 DOI:10.1016/j.psyneuen.2014.12.019
 PMID:26885016
 著者        Lin CX, Hu Z, Yan ZM, Li W, Chen YS, Zhao JH, Zhang LQ, Zhao B, Zhong WT, Feng D
 タイトル      Association between HTR2A T102C polymorphism and major depressive disorder: a meta-analysis in the Chinese population.
 雑誌        Int J Clin Exp Med 8:20897-903 (2015)
 PMID:24856550
 著者        Szczepankiewicz A, Leszczynska-Rodziewicz A, Pawlak J, Narozna B, Rajewska-Rager A, Wilkosc M, Zaremba D, Maciukiewicz M, Twarowska-Hauser J
 タイトル      FKBP5 polymorphism is associated with major depression but not with bipolar disorder.
 雑誌        J Affect Disord 164:33-7 (2014)
 DOI:10.1016/j.jad.2014.04.002
 PMID:25159460 (drug)
 著者        Zhang Y, Becker T, Ma Y, Koesters M
 タイトル      A systematic review of Chinese randomized clinical trials of SSRI treatment of depression.
 雑誌        BMC Psychiatry 14:245 (2014)
 DOI:10.1186/s12888-014-0245-4
 PMID:23737423 (drug)
 著者        Cuijpers P, Sijbrandij M, Koole SL, Andersson G, Beekman AT, Reynolds CF 3rd
 タイトル      The efficacy of psychotherapy and pharmacotherapy in treating depressive and anxiety disorders: a meta-analysis of direct comparisons.
 雑誌        World Psychiatry 12:137-48 (2013)
 DOI:10.1002/wps.20038
 PMID:26572745 (drug)
 著者        Bruno A, Morabito P, Spina E, Muscatello MR
 タイトル      The Role of Levomilnacipran in the Management of Major Depressive Disorder: A Comprehensive Review.
 雑誌        Curr Neuropharmacol 14:191-9 (2016)
 DOI:10.2174/1570159X14666151117122458","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01646"">H01646</a>",うつ病,"Major depressive disorder (MDD) is the most common psychiatric disorder mainly characterized by depressed mood, loss of interest, feelings of worthlessness, and a high risk of suicide. Accumulated evidence suggests that both environmental and genetic factors are involved in the etiology of MDD although the pathogenesis of MDD remains unknown. Mutations in genes involved in brain serotonin synthesis, have been identified in patients. Brain serotonin deficiency has been hypothesized to play a role in a wide range of psychiatric diseases, including MDD. Several efficacious treatments for MDD are available, including different forms of psychotherapy and antidepressant medication. Recently, selective reuptake inhibitors (SSRIs, SNRIs,) have become the first-line antidepressant drug treatment of depression and replaced tricyclic antidepressants (TCA) and monoamine oxidase inhibitors (MAOI) due to fewer side-effects and ease of use.",,"TPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121278"">121278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00502"">K00502</a>]
 HTR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3356"">3356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04157"">K04157</a>]
 FKBP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2289"">2289</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09571"">K09571</a>]",,,,"ジアゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00293"">D00293</a>]
 クロルジアゼポキシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00267"">D00267</a>]
 ブロマゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01245"">D01245</a>]
 メタンフェタミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02242"">D02242</a>]
 レボメプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01520"">D01520</a>]
 レボメプロマジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02248"">D02248</a>]
 イミプラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00815"">D00815</a>]
 クロミプラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00811"">D00811</a>]
 トリミプラミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02408"">D02408</a>]
 ロフェプラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01285"">D01285</a>]
 スルピリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01226"">D01226</a>]
 アリピプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01164"">D01164</a>]
 エチゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01514"">D01514</a>]
 アミトリプチリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00809"">D00809</a>]
 ノルトリプチリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00816"">D00816</a>]
 ドスレピン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01546"">D01546</a>]
 アモキサピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00228"">D00228</a>]
 マプロチリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00818"">D00818</a>]
 パロキセチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02260"">D02260</a>]
 セルトラリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00825"">D00825</a>]
 フルボキサミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00824"">D00824</a>]
 エスシタロプラムシュウ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02567"">D02567</a>]
 トラゾドン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00820"">D00820</a>]
 ベンラファキシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00821"">D00821</a>]
 塩酸デュロキセチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01179"">D01179</a>]
 ボルチオキセチン臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10185"">D10185</a>]
 ペモリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00744"">D00744</a>]
 セチプチリンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02034"">D02034</a>]",,"ICD-11: 6A70 6A71
 ICD-10: F32 F33
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003863"">D003863</a>
 OMIM: <a href=""https://www.omim.org/entry/608516"">608516</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27497214"">27497214</a>
 著者        Hou Z, Song X, Jiang W, Yue Y, Yin Y, Zhang Y, Liu Y, Yuan Y
 タイトル      Prognostic value of imbalanced interhemispheric functional coordination in early therapeutic efficacy in major depressive disorder.
 雑誌        Psychiatry Res 255:1-8 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.pscychresns.2016.07.011"">10.1016/j.pscychresns.2016.07.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25602134"">25602134</a>
 著者        Sachs BD, Rodriguiz RM, Tran HL, Iyer A, Wetsel WC, Caron MG
 タイトル      Serotonin deficiency alters susceptibility to the long-term consequences of adverse early life experience.
 雑誌        Psychoneuroendocrinology 53:69-81 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.psyneuen.2014.12.019"">10.1016/j.psyneuen.2014.12.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26885016"">26885016</a>
 著者        Lin CX, Hu Z, Yan ZM, Li W, Chen YS, Zhao JH, Zhang LQ, Zhao B, Zhong WT, Feng D
 タイトル      Association between HTR2A T102C polymorphism and major depressive disorder: a meta-analysis in the Chinese population.
 雑誌        Int J Clin Exp Med 8:20897-903 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24856550"">24856550</a>
 著者        Szczepankiewicz A, Leszczynska-Rodziewicz A, Pawlak J, Narozna B, Rajewska-Rager A, Wilkosc M, Zaremba D, Maciukiewicz M, Twarowska-Hauser J
 タイトル      FKBP5 polymorphism is associated with major depression but not with bipolar disorder.
 雑誌        J Affect Disord 164:33-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jad.2014.04.002"">10.1016/j.jad.2014.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25159460"">25159460</a> (drug)
 著者        Zhang Y, Becker T, Ma Y, Koesters M
 タイトル      A systematic review of Chinese randomized clinical trials of SSRI treatment of depression.
 雑誌        BMC Psychiatry 14:245 (2014)
 DOI:<a href=""https://doi.org/10.1186/s12888-014-0245-4"">10.1186/s12888-014-0245-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23737423"">23737423</a> (drug)
 著者        Cuijpers P, Sijbrandij M, Koole SL, Andersson G, Beekman AT, Reynolds CF 3rd
 タイトル      The efficacy of psychotherapy and pharmacotherapy in treating depressive and anxiety disorders: a meta-analysis of direct comparisons.
 雑誌        World Psychiatry 12:137-48 (2013)
 DOI:<a href=""https://doi.org/10.1002/wps.20038"">10.1002/wps.20038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26572745"">26572745</a> (drug)
 著者        Bruno A, Morabito P, Spina E, Muscatello MR
 タイトル      The Role of Levomilnacipran in the Management of Major Depressive Disorder: A Comprehensive Review.
 雑誌        Curr Neuropharmacol 14:191-9 (2016)
 DOI:<a href=""https://doi.org/10.2174/1570159X14666151117122458"">10.2174/1570159X14666151117122458</a>"
H01647,亜急性甲状腺炎,,,"Subacute thyroiditis (SAT), also called subacute granulomatous or de Quervain thyroiditis, is a spontaneously remitting, painful, inflammatory disease of the thyroid gland, which is considered the most common cause of painful thyroiditis. It is an uncommon but important cause of fever of unknown origin (FUO). SAT is often preceded by an upper respiratory tract infection and occurs concurrently with outbreaks of viral diseases (mumps, measles, influenza). However, the exact etiology is unknown. Clinically, it presents with acute onset of pain in the thyroid region. The pain may be exacerbated by turning the head or swallowing, and may radiate to the jaw, ear or chest. Common initial clinical features include low-grade fever, fatigue, and mild thyrotoxic manifestations. The physical examination, an elevated erythrocyte sedimentation rate, an elevated thyroglobulin level, and a depressed radioactive iodine uptake confirm the diagnosis. Therapy with antithyroid drugs is not indicated in patients with SAT because this disorder is caused by the release of preformed thyroid hormone rather than synthesis of new T3 and T4. Therapy with beta blockers may be indicated for the symptomatic treatment of thyrotoxicosis. Nonsteroidal anti-inflammatory drugs are generally effective in reducing thyroid pain in patients with mild cases. Patients with more severe disease require a tapering dosage of prednisone given over two to four weeks.",内分泌疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]",See also H01645.,"ICD-11: 5A03.1
 ICD-10: E06.1
 MeSH: D013968","PMID:10706157
 著者        Slatosky J, Shipton B, Wahba H
 タイトル      Thyroiditis: differential diagnosis and management.
 雑誌        Am Fam Physician 61:1047-52, 1054 (2000)
 PMID:24803929
 著者        Alfadda AA, Sallam RM, Elawad GE, Aldhukair H, Alyahya MM
 タイトル      Subacute thyroiditis: clinical presentation and long term outcome.
 雑誌        Int J Endocrinol 2014:794943 (2014)
 DOI:10.1155/2014/794943
 PMID:17956558
 著者        Karachalios GN, Amantos K, Kanakis KV, Deliousis A, Karachaliou IG, Zacharof AK
 タイトル      Subacute thyroiditis presenting as fever of unknown origin.
 雑誌        Int J Clin Pract 64:97-8 (2010)
 DOI:10.1111/j.1742-1241.2006.00927.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01647"">H01647</a>",亜急性甲状腺炎,"Subacute thyroiditis (SAT), also called subacute granulomatous or de Quervain thyroiditis, is a spontaneously remitting, painful, inflammatory disease of the thyroid gland, which is considered the most common cause of painful thyroiditis. It is an uncommon but important cause of fever of unknown origin (FUO). SAT is often preceded by an upper respiratory tract infection and occurs concurrently with outbreaks of viral diseases (mumps, measles, influenza). However, the exact etiology is unknown. Clinically, it presents with acute onset of pain in the thyroid region. The pain may be exacerbated by turning the head or swallowing, and may radiate to the jaw, ear or chest. Common initial clinical features include low-grade fever, fatigue, and mild thyrotoxic manifestations. The physical examination, an elevated erythrocyte sedimentation rate, an elevated thyroglobulin level, and a depressed radioactive iodine uptake confirm the diagnosis. Therapy with antithyroid drugs is not indicated in patients with SAT because this disorder is caused by the release of preformed thyroid hormone rather than synthesis of new T3 and T4. Therapy with beta blockers may be indicated for the symptomatic treatment of thyrotoxicosis. Nonsteroidal anti-inflammatory drugs are generally effective in reducing thyroid pain in patients with mild cases. Patients with more severe disease require a tapering dosage of prednisone given over two to four weeks.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645."">H01645.</a>","ICD-11: 5A03.1
 ICD-10: E06.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013968"">D013968</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10706157"">10706157</a>
 著者        Slatosky J, Shipton B, Wahba H
 タイトル      Thyroiditis: differential diagnosis and management.
 雑誌        Am Fam Physician 61:1047-52, 1054 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24803929"">24803929</a>
 著者        Alfadda AA, Sallam RM, Elawad GE, Aldhukair H, Alyahya MM
 タイトル      Subacute thyroiditis: clinical presentation and long term outcome.
 雑誌        Int J Endocrinol 2014:794943 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/794943"">10.1155/2014/794943</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17956558"">17956558</a>
 著者        Karachalios GN, Amantos K, Kanakis KV, Deliousis A, Karachaliou IG, Zacharof AK
 タイトル      Subacute thyroiditis presenting as fever of unknown origin.
 雑誌        Int J Clin Pract 64:97-8 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1742-1241.2006.00927.x"">10.1111/j.1742-1241.2006.00927.x</a>"
H01648,天疱瘡,,,"Pemphigus is an autoimmune blistering disease of the skin and mucous membranes characterized by circulating autoantibodies that target desmosomal components as well as other epithelial antigens and impair keratinocytes adhesion with subsequent acantholysis. Although the precise pathomechanisms of pemphigus have not yet been fully elucidated, recent studies have shown that desmosome disassembling involves not only the direct inhibition of desmosome formation caused by IgGs, but also desmosome remodeling. Pemphigus can be divided into non-inflammatory types, which are the major and common types, and inflammatory types, which are much less common and include necrolytic (apoptotic) type. Non-inflammatory pemphigus includes two types: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). The former is caused by autoantibodies to desmoglein (Dsg) 3 only or to both Dsg1 and Dsg3 and generates clinically multiple flaccid blisters and erosions due to acantholysis at the lower, typically along the suprabasal, layers in the epidermis and mucous membranes. The latter is caused by autoantibodies to Dsg1 and clinically characterized by very fragile superficial blisters and large leafy scales due to acantholysis at the granular cell layer in the epidermis, but not observed in the mucous membranes. Inflammatory types of pemphigus include pemphigus herpetiformis (PH), pemphigus vegetans (PVeg) and the so-called paraneoplastic pemphigus (PP). Because pemphigus is an autoimmune disease, the most common treatment is the administration of oral steroids to inhibit antibody production, combined with the use of topical agents to prevent infection, protect the eroded areas and promote epithelialization. Other concomitant therapy can include the use of immunosuppressants, plasma exchange, and the administration of high-dose intravenous immunoglobulin (IVIG).",皮膚および結合組織疾患; 免疫系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 ジフロラゾン酢酸エステル [DR:D01327]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 ジアフェニルスルホン [DR:D00592]
 リツキシマブ [DR:D02994]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]","Autoantigen:
 DSG1 [HSA:1828] [KO:K07596]
 DSG3 [HSA:1830] [KO:K07598]","ICD-11: EB40
 ICD-10: L10
 MeSH: D010392","PMID:25078507
 著者        Kitajima Y
 タイトル      150(th) anniversary series: Desmosomes and autoimmune disease, perspective of dynamic desmosome remodeling and its impairments in pemphigus.
 雑誌        Cell Commun Adhes 21:269-80 (2014)
 DOI:10.3109/15419061.2014.943397
 PMID:24909210
 著者        Amagai M, Tanikawa A, Shimizu T, Hashimoto T, Ikeda S, Kurosawa M, Niizeki H, Aoyama Y, Iwatsuki K, Kitajima Y
 タイトル      Japanese guidelines for the management of pemphigus.
 雑誌        J Dermatol 41:471-86 (2014)
 DOI:10.1111/1346-8138.12486
 PMID:27329525
 著者        Celentano A, Cirillo N
 タイトル      Desmosomes in disease: a guide for clinicians.
 雑誌        Oral Dis 23:157-167 (2017)
 DOI:10.1111/odi.12527
 PMID:25405675 (drug)
 著者        Hooten J, Hall R 3rd, Cardones A
 タイトル      Updates on the management of autoimmune blistering diseases.
 雑誌        Skin Therapy Lett 19:1-6 (2014)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01648"">H01648</a>",天疱瘡,"Pemphigus is an autoimmune blistering disease of the skin and mucous membranes characterized by circulating autoantibodies that target desmosomal components as well as other epithelial antigens and impair keratinocytes adhesion with subsequent acantholysis. Although the precise pathomechanisms of pemphigus have not yet been fully elucidated, recent studies have shown that desmosome disassembling involves not only the direct inhibition of desmosome formation caused by IgGs, but also desmosome remodeling. Pemphigus can be divided into non-inflammatory types, which are the major and common types, and inflammatory types, which are much less common and include necrolytic (apoptotic) type. Non-inflammatory pemphigus includes two types: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). The former is caused by autoantibodies to desmoglein (Dsg) 3 only or to both Dsg1 and Dsg3 and generates clinically multiple flaccid blisters and erosions due to acantholysis at the lower, typically along the suprabasal, layers in the epidermis and mucous membranes. The latter is caused by autoantibodies to Dsg1 and clinically characterized by very fragile superficial blisters and large leafy scales due to acantholysis at the granular cell layer in the epidermis, but not observed in the mucous membranes. Inflammatory types of pemphigus include pemphigus herpetiformis (PH), pemphigus vegetans (PVeg) and the so-called paraneoplastic pemphigus (PP). Because pemphigus is an autoimmune disease, the most common treatment is the administration of oral steroids to inhibit antibody production, combined with the use of topical agents to prevent infection, protect the eroded areas and promote epithelialization. Other concomitant therapy can include the use of immunosuppressants, plasma exchange, and the administration of high-dose intravenous immunoglobulin (IVIG).",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 ジアフェニルスルホン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00592"">D00592</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]","Autoantigen:
 DSG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1828"">1828</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07596"">K07596</a>]
 DSG3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1830"">1830</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07598"">K07598</a>]","ICD-11: EB40
 ICD-10: L10
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010392"">D010392</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25078507"">25078507</a>
 著者        Kitajima Y
 タイトル      150(th) anniversary series: Desmosomes and autoimmune disease, perspective of dynamic desmosome remodeling and its impairments in pemphigus.
 雑誌        Cell Commun Adhes 21:269-80 (2014)
 DOI:<a href=""https://doi.org/10.3109/15419061.2014.943397"">10.3109/15419061.2014.943397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24909210"">24909210</a>
 著者        Amagai M, Tanikawa A, Shimizu T, Hashimoto T, Ikeda S, Kurosawa M, Niizeki H, Aoyama Y, Iwatsuki K, Kitajima Y
 タイトル      Japanese guidelines for the management of pemphigus.
 雑誌        J Dermatol 41:471-86 (2014)
 DOI:<a href=""https://doi.org/10.1111/1346-8138.12486"">10.1111/1346-8138.12486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27329525"">27329525</a>
 著者        Celentano A, Cirillo N
 タイトル      Desmosomes in disease: a guide for clinicians.
 雑誌        Oral Dis 23:157-167 (2017)
 DOI:<a href=""https://doi.org/10.1111/odi.12527"">10.1111/odi.12527</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25405675"">25405675</a> (drug)
 著者        Hooten J, Hall R 3rd, Cardones A
 タイトル      Updates on the management of autoimmune blistering diseases.
 雑誌        Skin Therapy Lett 19:1-6 (2014)"
H01649,統合失調症,,,"Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive symptoms), social withdrawal, alogia, and flat affect (negative symptoms), and cognitive disabilities. While treatments exist for the psychotic symptoms of schizophrenia, there is no effective therapy to prevent the cognitive impairments. The disorder is substantially heritable, but expression of the clinical phenotype is likely to involve the interplay of multiple susceptibility variants, epigenetic factors, and environmental influences. Although it has been suggested that many of the promising candidate genes are involved in the development and maintenance of synaptic function, the most of them remains to be identified. The pathogenic mechanisms underlying schizophrenia are unknown, but observers have repeatedly noted pathological features involving excessive loss of gray matter and reduced numbers of synaptic structures on neurons. Recently, it has been found that alleles of the C4 genes are associated with schizophrenia in proportion to their tendency to promote greater expression of C4A in the brain.",精神及び行動の障害,,"(SCZD4) PRODH [HSA:5625] [KO:K00318]
 (SCZD6) NRG1 [HSA:3084] [KO:K05455]
 (SCZD9) DISC1 [HSA:27185] [KO:K16534]
 (SCZD15) SHANK3 [HSA:85358] [KO:K15009]
 (SZCD17) NRXN1 [HSA:9378] [KO:K07377]
 (SCZD18) SLC1A1 [HSA:6505] [KO:K05612]
 (SCZD19) RBM12 [HSA:10137] [KO:K24526]
 MTHFR [HSA:4524] [KO:K25004]
 CHI3L1 [HSA:1116] [KO:K17523]
 SYN2 [HSA:6854] [KO:K19941]
 DRD3 [HSA:1814] [KO:K04146]
 RTN4R [HSA:65078] [KO:K16659]
 DAOA [HSA:267012] [KO:K24397]
 HTR2A [HSA:3356] [KO:K04157]
 AKT1 [HSA:207] [KO:K04456]
 C4A [HSA:720] [KO:K03989]
 APOL2 [HSA:23780] [KO:K14480]
 APOL4 [HSA:80832] [KO:K14480]",,,,"カルバマゼピン [DR:D00252]
 クロルプロマジン塩酸塩 [DR:D00789]
 クロルプロマジンフェノールフタリン酸塩 [DR:D04034]
 レボメプロマジン塩酸塩 [DR:D01520]
 レボメプロマジンマレイン酸塩 [DR:D02248]
 フルフェナジンデカン酸エステル [DR:D00793]
 フルフェナジンマレイン酸塩 [DR:D02163]
 ペルフェナジン [DR:D00503]
 ペルフェナジンマレイン酸塩 [DR:D02037]
 ペルフェナジンフェンジゾ酸塩 [DR:D04038]
 塩酸ペルフェナジン [DR:D04965]
 プロクロルペラジンマレイン酸塩 [DR:D00479]
 プロペリシアジン [DR:D01485]
 ハロペリドール [DR:D00136]
 ハロペリドールデカン酸エステル [DR:D01898]
 ピパンペロン塩酸塩 [DR:D01482]
 オキシペルチン [DR:D01219]
 ルラシドン塩酸塩 [DR:D04820]
 クロザピン [DR:D00283]
 オランザピン [DR:D00454]
 クエチアピンフマル酸塩 [DR:D00458]
 アセナピンマレイン酸塩 [DR:D02995]
 スルピリド [DR:D01226]
 スルトプリド塩酸塩 [DR:D02208]
 リスペリドン [DR:D00426]
 モサプラミン塩酸塩 [DR:D01548]
 ゾテピン [DR:D01321]
 アリピプラゾール [DR:D01164]
 アリピプラゾール水和物 [DR:D10516]
 パリペリドン [DR:D05339]
 パリペリドンパルミチン酸エステル [DR:D05340]
 ブレクスピプラゾール [DR:D10309]
 エチゾラム [DR:D01514]
 スピペロン [DR:D01051]
 ブロナンセリン [DR:D01176]
 ネモナプリド [DR:D01468]
 チミペロン [DR:D02035]",,"ICD-11: 6A20
 ICD-10: F20
 MeSH: D012559
 OMIM: 181500 600850 604906 603013 613950 614332 615232 617629","PMID:16195940
 著者        Austin J
 タイトル      Schizophrenia: an update and review.
 雑誌        J Genet Couns 14:329-40 (2005)
 DOI:10.1007/s10897-005-1622-4
 PMID:20718829
 著者        Cacabelos R, Martinez-Bouza R
 タイトル      Genomics and pharmacogenomics of schizophrenia.
 雑誌        CNS Neurosci Ther 17:541-65 (2011)
 DOI:10.1111/j.1755-5949.2010.00187.x
 PMID:15274030 (PRODH)
 著者        Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA
 タイトル      Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 129B:13-5 (2004)
 DOI:10.1002/ajmg.b.30049
 PMID:15197397 (NRG1)
 著者        Thiselton DL, Webb BT, Neale BM, Ribble RC, O'Neill FA, Walsh D, Riley BP, Kendler KS
 タイトル      No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF).
 雑誌        Mol Psychiatry 9:777-83; image 729 (2004)
 DOI:10.1038/sj.mp.4001530
 PMID:10814723 (DISC1)
 著者        Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, Devon RS, St Clair DM, Muir WJ, Blackwood DH, Porteous DJ
 タイトル      Disruption of two novel genes by a translocation co-segregating with schizophrenia.
 雑誌        Hum Mol Genet 9:1415-23 (2000)
 DOI:10.1093/hmg/9.9.1415
 PMID:20385823 (SHANK3)
 著者        Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Cote M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Neri C, Dube MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA
 タイトル      De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
 雑誌        Proc Natl Acad Sci U S A 107:7863-8 (2010)
 DOI:10.1073/pnas.0906232107
 PMID:18945720 (NRXN1)
 著者        Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Moller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nothen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA
 タイトル      Disruption of the neurexin 1 gene is associated with schizophrenia.
 雑誌        Hum Mol Genet 18:988-96 (2009)
 DOI:10.1093/hmg/ddn351
 PMID:23341099 (SLC1A1)
 著者        Myles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA
 タイトル      Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 162B:87-95 (2013)
 DOI:10.1002/ajmg.b.32125
 PMID:28628109 (RBM12)
 著者        Steinberg S, Gudmundsdottir S, Sveinbjornsson G, Suvisaari J, Paunio T, Torniainen-Holm M, Frigge ML, Jonsdottir GA, Huttenlocher J, Arnarsdottir S, Ingimarsson O, Haraldsson M, Tyrfingsson T, Thorgeirsson TE, Kong A, Norddahl GL, Gudbjartsson DF, Sigurdsson E, Stefansson H, Stefansson K
 タイトル      Truncating mutations in RBM12 are associated with psychosis.
 雑誌        Nat Genet 49:1251-1254 (2017)
 DOI:10.1038/ng.3894
 PMID:10679944 (MTHFR)
 著者        Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R
 タイトル      Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
 雑誌        Hum Mutat 15:280-7 (2000)
 DOI:10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
 PMID:17160890 (CHI3L1)
 著者        Zhao X, Tang R, Gao B, Shi Y, Zhou J, Guo S, Zhang J, Wang Y, Tang W, Meng J, Li S, Wang H, Ma G, Lin C, Xiao Y, Feng G, Lin Z, Zhu S, Xing Y, Sang H, St Clair D, He L
 タイトル      Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.
 雑誌        Am J Hum Genet 80:12-8 (2007)
 DOI:10.1086/510438
 PMID:15449241 (SYN2)
 著者        Chen Q, He G, Qin W, Chen QY, Zhao XZ, Duan SW, Liu XM, Feng GY, Xu YF, St Clair D, Li M, Wang JH, Xing YL, Shi JG, He L
 タイトル      Family-based association study of synapsin II and schizophrenia.
 雑誌        Am J Hum Genet 75:873-7 (2004)
 DOI:10.1086/425588
 PMID:1362221 (DRD3)
 著者        Crocq MA, Mant R, Asherson P, Williams J, Hode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz JC, et al.
 タイトル      Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
 雑誌        J Med Genet 29:858-60 (1992)
 DOI:10.1136/jmg.29.12.858
 PMID:15532024 (RTN4R)
 著者        Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B
 タイトル      Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
 雑誌        Hum Mutat 24:534-5 (2004)
 DOI:10.1002/humu.9292
 PMID:12364586 (DAOA)
 著者        Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D
 タイトル      Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
 雑誌        Proc Natl Acad Sci U S A 99:13675-80 (2002)
 DOI:10.1073/pnas.182412499
 PMID:12692777 (HTR2A)
 著者        Czerski PM, Leszczynska-Rodziewicz A, Dmitrzak-Weglarz M, Kapelski P, Godlewski S, Rybakowski J, Hauser J
 タイトル      Association analysis of serotonin 2A receptor gene T102c polymorphism and schizophrenia.
 雑誌        World J Biol Psychiatry 4:69-73 (2003)
 DOI:10.3109/15622970309167954
 PMID:14745448 (AKT1)
 著者        Emamian ES, Hall D, Birnbaum MJ, Karayiorgou M, Gogos JA
 タイトル      Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia.
 雑誌        Nat Genet 36:131-7 (2004)
 DOI:10.1038/ng1296
 PMID:26814963 (C4A)
 著者        Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, Carroll MC, Stevens B, McCarroll SA
 タイトル      Schizophrenia risk from complex variation of complement component 4.
 雑誌        Nature 530:177-83 (2016)
 DOI:10.1038/nature16549
 PMID:11930015 (APOL2 APOL4)
 著者        Mimmack ML, Ryan M, Baba H, Navarro-Ruiz J, Iritani S, Faull RL, McKenna PJ, Jones PB, Arai H, Starkey M, Emson PC, Bahn S
 タイトル      Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22.
 雑誌        Proc Natl Acad Sci U S A 99:4680-5 (2002)
 DOI:10.1073/pnas.032069099","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01649"">H01649</a>",統合失調症,"Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive symptoms), social withdrawal, alogia, and flat affect (negative symptoms), and cognitive disabilities. While treatments exist for the psychotic symptoms of schizophrenia, there is no effective therapy to prevent the cognitive impairments. The disorder is substantially heritable, but expression of the clinical phenotype is likely to involve the interplay of multiple susceptibility variants, epigenetic factors, and environmental influences. Although it has been suggested that many of the promising candidate genes are involved in the development and maintenance of synaptic function, the most of them remains to be identified. The pathogenic mechanisms underlying schizophrenia are unknown, but observers have repeatedly noted pathological features involving excessive loss of gray matter and reduced numbers of synaptic structures on neurons. Recently, it has been found that alleles of the C4 genes are associated with schizophrenia in proportion to their tendency to promote greater expression of C4A in the brain.",,"(SCZD4) PRODH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5625"">5625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00318"">K00318</a>]
 (SCZD6) NRG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3084"">3084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05455"">K05455</a>]
 (SCZD9) DISC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27185"">27185</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16534"">K16534</a>]
 (SCZD15) SHANK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85358"">85358</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15009"">K15009</a>]
 (SZCD17) NRXN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9378"">9378</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07377"">K07377</a>]
 (SCZD18) SLC1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6505"">6505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05612"">K05612</a>]
 (SCZD19) RBM12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10137"">10137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24526"">K24526</a>]
 MTHFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4524"">4524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25004"">K25004</a>]
 CHI3L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1116"">1116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17523"">K17523</a>]
 SYN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6854"">6854</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19941"">K19941</a>]
 DRD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1814"">1814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04146"">K04146</a>]
 RTN4R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65078"">65078</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16659"">K16659</a>]
 DAOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:267012"">267012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24397"">K24397</a>]
 HTR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3356"">3356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04157"">K04157</a>]
 AKT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:207"">207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 C4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:720"">720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03989"">K03989</a>]
 APOL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23780"">23780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14480"">K14480</a>]
 APOL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80832"">80832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14480"">K14480</a>]",,,,"カルバマゼピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00252"">D00252</a>]
 クロルプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00789"">D00789</a>]
 クロルプロマジンフェノールフタリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04034"">D04034</a>]
 レボメプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01520"">D01520</a>]
 レボメプロマジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02248"">D02248</a>]
 フルフェナジンデカン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00793"">D00793</a>]
 フルフェナジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02163"">D02163</a>]
 ペルフェナジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00503"">D00503</a>]
 ペルフェナジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02037"">D02037</a>]
 ペルフェナジンフェンジゾ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04038"">D04038</a>]
 塩酸ペルフェナジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04965"">D04965</a>]
 プロクロルペラジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00479"">D00479</a>]
 プロペリシアジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01485"">D01485</a>]
 ハロペリドール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00136"">D00136</a>]
 ハロペリドールデカン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01898"">D01898</a>]
 ピパンペロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01482"">D01482</a>]
 オキシペルチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01219"">D01219</a>]
 ルラシドン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04820"">D04820</a>]
 クロザピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00283"">D00283</a>]
 オランザピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00454"">D00454</a>]
 クエチアピンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00458"">D00458</a>]
 アセナピンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02995"">D02995</a>]
 スルピリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01226"">D01226</a>]
 スルトプリド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02208"">D02208</a>]
 リスペリドン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00426"">D00426</a>]
 モサプラミン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01548"">D01548</a>]
 ゾテピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01321"">D01321</a>]
 アリピプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01164"">D01164</a>]
 アリピプラゾール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10516"">D10516</a>]
 パリペリドン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05339"">D05339</a>]
 パリペリドンパルミチン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05340"">D05340</a>]
 ブレクスピプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10309"">D10309</a>]
 エチゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01514"">D01514</a>]
 スピペロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01051"">D01051</a>]
 ブロナンセリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01176"">D01176</a>]
 ネモナプリド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01468"">D01468</a>]
 チミペロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02035"">D02035</a>]",,"ICD-11: 6A20
 ICD-10: F20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012559"">D012559</a>
 OMIM: <a href=""https://www.omim.org/entry/181500"">181500</a> <a href=""https://www.omim.org/entry/600850"">600850</a> <a href=""https://www.omim.org/entry/604906"">604906</a> <a href=""https://www.omim.org/entry/603013"">603013</a> <a href=""https://www.omim.org/entry/613950"">613950</a> <a href=""https://www.omim.org/entry/614332"">614332</a> <a href=""https://www.omim.org/entry/615232"">615232</a> <a href=""https://www.omim.org/entry/617629"">617629</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16195940"">16195940</a>
 著者        Austin J
 タイトル      Schizophrenia: an update and review.
 雑誌        J Genet Couns 14:329-40 (2005)
 DOI:<a href=""https://doi.org/10.1007/s10897-005-1622-4"">10.1007/s10897-005-1622-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20718829"">20718829</a>
 著者        Cacabelos R, Martinez-Bouza R
 タイトル      Genomics and pharmacogenomics of schizophrenia.
 雑誌        CNS Neurosci Ther 17:541-65 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1755-5949.2010.00187.x"">10.1111/j.1755-5949.2010.00187.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15274030"">15274030</a> (PRODH)
 著者        Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA
 タイトル      Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 129B:13-5 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.30049"">10.1002/ajmg.b.30049</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15197397"">15197397</a> (NRG1)
 著者        Thiselton DL, Webb BT, Neale BM, Ribble RC, O'Neill FA, Walsh D, Riley BP, Kendler KS
 タイトル      No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF).
 雑誌        Mol Psychiatry 9:777-83; image 729 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001530"">10.1038/sj.mp.4001530</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10814723"">10814723</a> (DISC1)
 著者        Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, Devon RS, St Clair DM, Muir WJ, Blackwood DH, Porteous DJ
 タイトル      Disruption of two novel genes by a translocation co-segregating with schizophrenia.
 雑誌        Hum Mol Genet 9:1415-23 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.9.1415"">10.1093/hmg/9.9.1415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20385823"">20385823</a> (SHANK3)
 著者        Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Cote M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Neri C, Dube MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA
 タイトル      De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
 雑誌        Proc Natl Acad Sci U S A 107:7863-8 (2010)
 DOI:<a href=""https://doi.org/10.1073/pnas.0906232107"">10.1073/pnas.0906232107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18945720"">18945720</a> (NRXN1)
 著者        Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Moller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nothen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA
 タイトル      Disruption of the neurexin 1 gene is associated with schizophrenia.
 雑誌        Hum Mol Genet 18:988-96 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddn351"">10.1093/hmg/ddn351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23341099"">23341099</a> (SLC1A1)
 著者        Myles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA
 タイトル      Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 162B:87-95 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.32125"">10.1002/ajmg.b.32125</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28628109"">28628109</a> (RBM12)
 著者        Steinberg S, Gudmundsdottir S, Sveinbjornsson G, Suvisaari J, Paunio T, Torniainen-Holm M, Frigge ML, Jonsdottir GA, Huttenlocher J, Arnarsdottir S, Ingimarsson O, Haraldsson M, Tyrfingsson T, Thorgeirsson TE, Kong A, Norddahl GL, Gudbjartsson DF, Sigurdsson E, Stefansson H, Stefansson K
 タイトル      Truncating mutations in RBM12 are associated with psychosis.
 雑誌        Nat Genet 49:1251-1254 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3894"">10.1038/ng.3894</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10679944"">10679944</a> (MTHFR)
 著者        Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R
 タイトル      Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
 雑誌        Hum Mutat 15:280-7 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200003)15:"">10.1002/(SICI)1098-1004(200003)15:</a><a href=""https://doi.org/3<280:"">3<280:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU9>3.0.CO;2-I"">AID-HUMU9>3.0.CO;2-I</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17160890"">17160890</a> (CHI3L1)
 著者        Zhao X, Tang R, Gao B, Shi Y, Zhou J, Guo S, Zhang J, Wang Y, Tang W, Meng J, Li S, Wang H, Ma G, Lin C, Xiao Y, Feng G, Lin Z, Zhu S, Xing Y, Sang H, St Clair D, He L
 タイトル      Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.
 雑誌        Am J Hum Genet 80:12-8 (2007)
 DOI:<a href=""https://doi.org/10.1086/510438"">10.1086/510438</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15449241"">15449241</a> (SYN2)
 著者        Chen Q, He G, Qin W, Chen QY, Zhao XZ, Duan SW, Liu XM, Feng GY, Xu YF, St Clair D, Li M, Wang JH, Xing YL, Shi JG, He L
 タイトル      Family-based association study of synapsin II and schizophrenia.
 雑誌        Am J Hum Genet 75:873-7 (2004)
 DOI:<a href=""https://doi.org/10.1086/425588"">10.1086/425588</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1362221"">1362221</a> (DRD3)
 著者        Crocq MA, Mant R, Asherson P, Williams J, Hode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz JC, et al.
 タイトル      Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
 雑誌        J Med Genet 29:858-60 (1992)
 DOI:<a href=""https://doi.org/10.1136/jmg.29.12.858"">10.1136/jmg.29.12.858</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15532024"">15532024</a> (RTN4R)
 著者        Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B
 タイトル      Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
 雑誌        Hum Mutat 24:534-5 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.9292"">10.1002/humu.9292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12364586"">12364586</a> (DAOA)
 著者        Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D
 タイトル      Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
 雑誌        Proc Natl Acad Sci U S A 99:13675-80 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.182412499"">10.1073/pnas.182412499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12692777"">12692777</a> (HTR2A)
 著者        Czerski PM, Leszczynska-Rodziewicz A, Dmitrzak-Weglarz M, Kapelski P, Godlewski S, Rybakowski J, Hauser J
 タイトル      Association analysis of serotonin 2A receptor gene T102c polymorphism and schizophrenia.
 雑誌        World J Biol Psychiatry 4:69-73 (2003)
 DOI:<a href=""https://doi.org/10.3109/15622970309167954"">10.3109/15622970309167954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14745448"">14745448</a> (AKT1)
 著者        Emamian ES, Hall D, Birnbaum MJ, Karayiorgou M, Gogos JA
 タイトル      Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia.
 雑誌        Nat Genet 36:131-7 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1296"">10.1038/ng1296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26814963"">26814963</a> (C4A)
 著者        Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, Carroll MC, Stevens B, McCarroll SA
 タイトル      Schizophrenia risk from complex variation of complement component 4.
 雑誌        Nature 530:177-83 (2016)
 DOI:<a href=""https://doi.org/10.1038/nature16549"">10.1038/nature16549</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11930015"">11930015</a> (APOL2 <a href=""https://pubmed.ncbi.nlm.nih.gov/APOL4)"">APOL4)</a>
 著者        Mimmack ML, Ryan M, Baba H, Navarro-Ruiz J, Iritani S, Faull RL, McKenna PJ, Jones PB, Arai H, Starkey M, Emson PC, Bahn S
 タイトル      Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22.
 雑誌        Proc Natl Acad Sci U S A 99:4680-5 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.032069099"">10.1073/pnas.032069099</a>"
H01650,類天疱瘡,,,"Pemphigoid diseases are group of autoimmune blistering disorders of the skin and mucous membranes characterized by autoantibodies directed against structural proteins of the dermal-epidermal junction that clinically can manifest with urticarial lesions, tense blisters, and erosions which may involve the mucous membranes. Diseases in this group include bullous pemphigoid (BP), dermatitis herpetiformis, mucous membrane pemphigoid, linear IgA bullous dermatosis, herpes gestationis, and epidermolysis bullosa acquisita. BP is the most common acquired bullous autoimmune dermatosis disease. It is primarily a disease of the elderly with an equal incidence in men and women. The clinical characteristics are the formation of tense blisters and pruritic urticarial erythema. Histopathologically, subepidermal blister formation associated with eosinophil infiltration is commonly observed in BP. The main autoantigens targeted by BP autoantibodies are hemidesmosomal transmembrane collagen XVII (COL17, also known as BP180/BPAG2) and the intracytoplasmic plakin family protein BP230. Most of these antibodies belong to the immunoglobulin G class. Diagnosis of BP relies on the clinical and histological aspects, but the most reliable clues are given by direct and indirect immunofluorescence. Three types of drugs, with distinct mechanisms of action, are used to treat BP: anti-inflammatory drugs, drugs designed to reduce the production of pathogenic antibodies, and treatments that increase the elimination of pathogenic antibodies from the serum of patients, such as high-dose intravenous immunoglobulin (IVIG) therapy and therapeutic plasma exchange.",皮膚および結合組織疾患; 免疫系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 ジフロラゾン酢酸エステル [DR:D01327]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 ジアフェニルスルホン [DR:D00592]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]","Autoantigen:
 BP180 [HSA:1308] [KO:K07603]
 BP230 [HSA:667] [KO:K10382]
 LAMA3 [HSA:3909] [KO:K06240]
 LAMB3 [HSA:3914] [KO:K06244]
 ITGA6 [HSA:3655] [KO:K06485]
 ITGB4 [HSA:3691] [KO:K06525]
 COL7A1 [HSA:1294] [KO:K16628]
 TGM3 [HSA:7053] [KO:K05620]","ICD-11: EB41
 ICD-10: L12
 MeSH: D010391","PMID:25797172
 著者        Ujiie H
 タイトル      IgE autoantibodies in bullous pemphigoid: supporting role, or leading player?
 雑誌        J Dermatol Sci 78:5-10 (2015)
 DOI:10.1016/j.jdermsci.2015.03.002
 PMID:23540594
 著者        Fuertes de Vega I, Iranzo-Fernandez P, Mascaro-Galy JM
 タイトル      Bullous pemphigoid: clinical practice guidelines.
 雑誌        Actas Dermosifiliogr 105:328-46 (2014)
 DOI:10.1016/j.ad.2012.10.022
 PMID:26173987
 著者        Danescu S, Chiorean R, Macovei V, Sitaru C, Baican A
 タイトル      Role of physical factors in the pathogenesis of bullous pemphigoid: Case report series and a comprehensive review of the published work.
 雑誌        J Dermatol 43:134-40 (2016)
 DOI:10.1111/1346-8138.13031
 PMID:24434358 (description, autoantigen)
 著者        Baum S, Sakka N, Artsi O, Trau H, Barzilai A
 タイトル      Diagnosis and classification of autoimmune blistering diseases.
 雑誌        Autoimmun Rev 13:482-9 (2014)
 DOI:10.1016/j.autrev.2014.01.047","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01650"">H01650</a>",類天疱瘡,"Pemphigoid diseases are group of autoimmune blistering disorders of the skin and mucous membranes characterized by autoantibodies directed against structural proteins of the dermal-epidermal junction that clinically can manifest with urticarial lesions, tense blisters, and erosions which may involve the mucous membranes. Diseases in this group include bullous pemphigoid (BP), dermatitis herpetiformis, mucous membrane pemphigoid, linear IgA bullous dermatosis, herpes gestationis, and epidermolysis bullosa acquisita. BP is the most common acquired bullous autoimmune dermatosis disease. It is primarily a disease of the elderly with an equal incidence in men and women. The clinical characteristics are the formation of tense blisters and pruritic urticarial erythema. Histopathologically, subepidermal blister formation associated with eosinophil infiltration is commonly observed in BP. The main autoantigens targeted by BP autoantibodies are hemidesmosomal transmembrane collagen XVII (COL17, also known as BP180/BPAG2) and the intracytoplasmic plakin family protein BP230. Most of these antibodies belong to the immunoglobulin G class. Diagnosis of BP relies on the clinical and histological aspects, but the most reliable clues are given by direct and indirect immunofluorescence. Three types of drugs, with distinct mechanisms of action, are used to treat BP: anti-inflammatory drugs, drugs designed to reduce the production of pathogenic antibodies, and treatments that increase the elimination of pathogenic antibodies from the serum of patients, such as high-dose intravenous immunoglobulin (IVIG) therapy and therapeutic plasma exchange.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 ジアフェニルスルホン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00592"">D00592</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]","Autoantigen:
 BP180 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1308"">1308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07603"">K07603</a>]
 BP230 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:667"">667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10382"">K10382</a>]
 LAMA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3909"">3909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06240"">K06240</a>]
 LAMB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3914"">3914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06244"">K06244</a>]
 ITGA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3655"">3655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06485"">K06485</a>]
 ITGB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3691"">3691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06525"">K06525</a>]
 COL7A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1294"">1294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16628"">K16628</a>]
 TGM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7053"">7053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05620"">K05620</a>]","ICD-11: EB41
 ICD-10: L12
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010391"">D010391</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25797172"">25797172</a>
 著者        Ujiie H
 タイトル      IgE autoantibodies in bullous pemphigoid: supporting role, or leading player?
 雑誌        J Dermatol Sci 78:5-10 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jdermsci.2015.03.002"">10.1016/j.jdermsci.2015.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23540594"">23540594</a>
 著者        Fuertes de Vega I, Iranzo-Fernandez P, Mascaro-Galy JM
 タイトル      Bullous pemphigoid: clinical practice guidelines.
 雑誌        Actas Dermosifiliogr 105:328-46 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ad.2012.10.022"">10.1016/j.ad.2012.10.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26173987"">26173987</a>
 著者        Danescu S, Chiorean R, Macovei V, Sitaru C, Baican A
 タイトル      Role of physical factors in the pathogenesis of bullous pemphigoid: Case report series and a comprehensive review of the published work.
 雑誌        J Dermatol 43:134-40 (2016)
 DOI:<a href=""https://doi.org/10.1111/1346-8138.13031"">10.1111/1346-8138.13031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24434358"">24434358</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/autoantigen)"">autoantigen)</a>
 著者        Baum S, Sakka N, Artsi O, Trau H, Barzilai A
 タイトル      Diagnosis and classification of autoimmune blistering diseases.
 雑誌        Autoimmun Rev 13:482-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.01.047"">10.1016/j.autrev.2014.01.047</a>"
H01651,黄斑浮腫,,,"Macular edema is a common feature of many diseases of the retina, such as intraocular inflammation (uveitis), central or branch retinal vein occlusion, diabetic retinopathy and following cataract extraction. It is characterized by a retinal thickening in the macular area due to the breakdown of the blood-retinal barrier. Extracellular fluid accumulates in the intraretinal area or collects in the subretinal space. In more severe cases, it occurs as cystoid edema with the typical petaloid appearance, and is the leading cause of visual loss. New treatments for macular edema have emerged over the past decade, the most recent and efficacious of which have involved blockage of vascular endothelial growth factor (VEGF) by frequent intravitreal injection of pharmacologic agents.",神経系疾患,,,,,,"トリアムシノロンアセトニド [DR:D00983]
 アフリベルセプト [DR:D09574]
 ラニビズマブ [DR:D05697]
 ブロルシズマブ [DR:D11083]
 ファリシマブ [DR:D11516]",,"ICD-11: 9B75.Y
 ICD-10: H35.8
 MeSH: D008269
 OMIM: 153880","PMID:19668445
 著者        Rotsos TG, Moschos MM
 タイトル      Cystoid macular edema.
 雑誌        Clin Ophthalmol 2:919-30 (2008)
 DOI:10.2147/opth.s4033
 PMID:21860693
 著者        Romero-Aroca P
 タイトル      Managing diabetic macular edema: The leading cause of diabetes blindness.
 雑誌        World J Diabetes 2:98-104 (2011)
 DOI:10.4239/wjd.v2.i6.98
 PMID:27256304
 著者        Fardeau C, Champion E, Massamba N, LeHoang P
 タイトル      Uveitic macular edema.
 雑誌        Eye (Lond) 30:1277-1292 (2016)
 DOI:10.1038/eye.2016.115
 PMID:27330464 (drug)
 著者        Andreoli MT, Pinnolis M, Kieser T, Sun J, Andreoli CM
 タイトル      Feasibility and efficacy of a mass switch from ranibizumab (Lucentis) to bevacizumab (Avastin) for treatment of neovascular age-related macular degeneration.
 雑誌        Digit J Ophthalmol 21:1-17 (2015)
 DOI:10.5693/djo.01.2015.04.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01651"">H01651</a>",黄斑浮腫,"Macular edema is a common feature of many diseases of the retina, such as intraocular inflammation (uveitis), central or branch retinal vein occlusion, diabetic retinopathy and following cataract extraction. It is characterized by a retinal thickening in the macular area due to the breakdown of the blood-retinal barrier. Extracellular fluid accumulates in the intraretinal area or collects in the subretinal space. In more severe cases, it occurs as cystoid edema with the typical petaloid appearance, and is the leading cause of visual loss. New treatments for macular edema have emerged over the past decade, the most recent and efficacious of which have involved blockage of vascular endothelial growth factor (VEGF) by frequent intravitreal injection of pharmacologic agents.",,,,,,"トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 アフリベルセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09574"">D09574</a>]
 ラニビズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05697"">D05697</a>]
 ブロルシズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11083"">D11083</a>]
 ファリシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11516"">D11516</a>]",,"ICD-11: 9B75.Y
 ICD-10: H35.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008269"">D008269</a>
 OMIM: <a href=""https://www.omim.org/entry/153880"">153880</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19668445"">19668445</a>
 著者        Rotsos TG, Moschos MM
 タイトル      Cystoid macular edema.
 雑誌        Clin Ophthalmol 2:919-30 (2008)
 DOI:<a href=""https://doi.org/10.2147/opth.s4033"">10.2147/opth.s4033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21860693"">21860693</a>
 著者        Romero-Aroca P
 タイトル      Managing diabetic macular edema: The leading cause of diabetes blindness.
 雑誌        World J Diabetes 2:98-104 (2011)
 DOI:<a href=""https://doi.org/10.4239/wjd.v2.i6.98"">10.4239/wjd.v2.i6.98</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27256304"">27256304</a>
 著者        Fardeau C, Champion E, Massamba N, LeHoang P
 タイトル      Uveitic macular edema.
 雑誌        Eye (Lond) 30:1277-1292 (2016)
 DOI:<a href=""https://doi.org/10.1038/eye.2016.115"">10.1038/eye.2016.115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27330464"">27330464</a> (drug)
 著者        Andreoli MT, Pinnolis M, Kieser T, Sun J, Andreoli CM
 タイトル      Feasibility and efficacy of a mass switch from ranibizumab (Lucentis) to bevacizumab (Avastin) for treatment of neovascular age-related macular degeneration.
 雑誌        Digit J Ophthalmol 21:1-17 (2015)
 DOI:<a href=""https://doi.org/10.5693/djo.01.2015.04.002"">10.5693/djo.01.2015.04.002</a>"
H01652,脂漏性皮膚炎,,,"Seborrheic dermatitis (SD) is a common inflammatory dermatological disorder. The characteristic symptoms include scaling, erythema, and itching, which occur most often on the scalp, face, chest, back, axilla, and groin. Its incidence peaks during three age periods: in the first three months of life, during puberty, and in adulthood with an apex at 40 to 60 years of age. The cause of SD is unknown and the disease seems to be multifactorial. Malassezia yeasts are considered to play an important role. They cause an inflammatory reaction that seems to be mediated by free fatty acids, released from sebaceous triglycerides by fungal enzymes such as lipases. The lipid layer of Malassezia can also modulate pro-inflammatory cytokine production by keratinocytes. Although it can be associated with human immunodeficiency virus infection and neurologic disease (e.g., cerebrovascular event, Parkinson disease), SD typically occurs in healthy persons. Its prevalence is 1% to 3% in the general population and 34% to 83% in immunocompromised persons. Topical antifungal agents are the first-line therapy for acute and long-term treatment of SD of the face and body. Treatment includes over-the-counter shampoos and topical antifungals, calcineurin inhibitors, and corticosteroids.",皮膚および結合組織疾患,,,"Malassezia globosa [GN:mgl]
 Malassezia restricta [GN:mrt]",,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 レゾルシン [DR:D00133]
 ヒドロコルチゾン酪酸エステル [DR:D01619]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 ジフロラゾン酢酸エステル [DR:D01327]
 ジフルプレドナート [DR:D01266]
 デプロドンプロピオン酸エステル [DR:D01434]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:D04773]
 ウフェナマート [DR:D01823]
 ケトコナゾール [DR:D00351]
 イオウ [DR:D00024]
 カルプロニウム塩化物 [DR:D01175]
 ピリドキシン塩酸塩 [DR:D02179]
 ビオチン [DR:D00029]",,"ICD-11: EA81
 ICD-10: L21
 MeSH: D012628","PMID:27148560
 著者        Borda LJ, Wikramanayake TC
 タイトル      Seborrheic Dermatitis and Dandruff: A Comprehensive Review.
 雑誌        J Clin Investig Dermatol 3 (2015)
 DOI:10.13188/2373-1044.1000019
 PMID:26016669
 著者        Naldi L, Diphoorn J
 タイトル      Seborrhoeic dermatitis of the scalp.
 雑誌        BMJ Clin Evid 2015:1713 (2015)
 PMID:25822272
 著者        Clark GW, Pope SM, Jaboori KA
 タイトル      Diagnosis and treatment of seborrheic dermatitis.
 雑誌        Am Fam Physician 91:185-90 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01652"">H01652</a>",脂漏性皮膚炎,"Seborrheic dermatitis (SD) is a common inflammatory dermatological disorder. The characteristic symptoms include scaling, erythema, and itching, which occur most often on the scalp, face, chest, back, axilla, and groin. Its incidence peaks during three age periods: in the first three months of life, during puberty, and in adulthood with an apex at 40 to 60 years of age. The cause of SD is unknown and the disease seems to be multifactorial. Malassezia yeasts are considered to play an important role. They cause an inflammatory reaction that seems to be mediated by free fatty acids, released from sebaceous triglycerides by fungal enzymes such as lipases. The lipid layer of Malassezia can also modulate pro-inflammatory cytokine production by keratinocytes. Although it can be associated with human immunodeficiency virus infection and neurologic disease (e.g., cerebrovascular event, Parkinson disease), SD typically occurs in healthy persons. Its prevalence is 1% to 3% in the general population and 34% to 83% in immunocompromised persons. Topical antifungal agents are the first-line therapy for acute and long-term treatment of SD of the face and body. Treatment includes over-the-counter shampoos and topical antifungals, calcineurin inhibitors, and corticosteroids.",,,"Malassezia globosa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mgl"">mgl</a>]
 Malassezia restricta [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mrt"">mrt</a>]",,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 レゾルシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00133"">D00133</a>]
 ヒドロコルチゾン酪酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01619"">D01619</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 ジフルプレドナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01266"">D01266</a>]
 デプロドンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01434"">D01434</a>]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04773"">D04773</a>]
 ウフェナマート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01823"">D01823</a>]
 ケトコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00351"">D00351</a>]
 イオウ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00024"">D00024</a>]
 カルプロニウム塩化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01175"">D01175</a>]
 ピリドキシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02179"">D02179</a>]
 ビオチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00029"">D00029</a>]",,"ICD-11: EA81
 ICD-10: L21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012628"">D012628</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27148560"">27148560</a>
 著者        Borda LJ, Wikramanayake TC
 タイトル      Seborrheic Dermatitis and Dandruff: A Comprehensive Review.
 雑誌        J Clin Investig Dermatol 3 (2015)
 DOI:<a href=""https://doi.org/10.13188/2373-1044.1000019"">10.13188/2373-1044.1000019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26016669"">26016669</a>
 著者        Naldi L, Diphoorn J
 タイトル      Seborrhoeic dermatitis of the scalp.
 雑誌        BMJ Clin Evid 2015:1713 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25822272"">25822272</a>
 著者        Clark GW, Pope SM, Jaboori KA
 タイトル      Diagnosis and treatment of seborrheic dermatitis.
 雑誌        Am Fam Physician 91:185-90 (2015)"
H01653,"双極性障害;
 躁うつ病
 下位グループ    大感情障害 (MAFD)",,,"Bipolar disorder, previously known as manic depressive illness, is a severe chronic mood disorder, characterized by the recurrence of mania (hypomania), depression, or mixed episodes. It is one of the main causes of disability among young people, leading to cognitive and functional impairment and raised mortality, particularly death by suicide. Mania is the most characteristic phase of bipolar disorder. While mood elevation and euphoria are commonly described phenotypic descriptors of mania, irritability and anger may dominate. At the present time, there is solid evidence supporting the use of lithium, the anticonvulsants valproate and carbamazepine, and some antipsychotics in mania. Manic or hypomanic episodes differ in severity and length. In a hypomanic episode, a disturbance in functioning can be seen by others but does not typically cause severe impairment or require admission to hospital. At onset, most patients with bipolar disorder present with a depressive episode that differs subtly from unipolar depression. The first step in the management of bipolar disorder is to confirm the diagnosis of mania or hypomania and define the patient's mood state, because the therapeutic approach differs considerably for hypomania, mania, depression, and euthymia. While effective pharmacological treatments exist for bipolar disorder, the pathophysiology of the condition essentially remains unknown. Although bipolar disorder is one of the most heritable psychiatric disorders, a multifactorial model in which gene and environment interact is currently thought to best fit this disorder. Many risk alleles of small effect which are described in genome-wide association studies, contribute to the polygenic risk of bipolar disorder. It is suggested that the dopaminergic system may play a central role in bipolar disorder, although no singular dysfunction of neurotransmitter systems has been identified.",精神及び行動の障害,,(MAFD7) XBP1 [HSA:7494] [KO:K09027],,,,"カルバマゼピン [DR:D00252]
 バルプロ酸ナトリウム [DR:D00710]
 ラモトリギン [DR:D00354]
 クロルプロマジン塩酸塩 [DR:D00789]
 クロルプロマジンフェノールフタリン酸塩 [DR:D04034]
 レボメプロマジン塩酸塩 [DR:D01520]
 レボメプロマジンマレイン酸塩 [DR:D02248]
 ハロペリドール [DR:D00136]
 ルラシドン塩酸塩 [DR:D04820]
 オランザピン [DR:D00454]
 クエチアピンフマル酸塩 [DR:D00458]
 スルトプリド塩酸塩 [DR:D02208]
 炭酸リチウム [DR:D00801]
 アリピプラゾール [DR:D01164]
 チミペロン [DR:D02035]","Bipolar I disorder: At least one manic episode must be presented, although major depressive episodes are typical but not needed for diagnosis.
 Bipolar II disorder: At least one hypomanic episode and one major depressive episode are needed for diagnosis.
 See also H01646 Major depressive disorder.","ICD-11: 6A60 6A61
 ICD-10: F31
 MeSH: D001714
 OMIM: 125480 309200 612371","PMID:26388529
 著者        Grande I, Berk M, Birmaher B, Vieta E
 タイトル      Bipolar disorder.
 雑誌        Lancet 387:1561-72 (2016)
 DOI:10.1016/S0140-6736(15)00241-X
 PMID:25497471
 著者        Graham RK, Parker GB, Breakspear M, Mitchell PB
 タイトル      Clinical characteristics and temperament influences on 'happy' euphoric and 'snappy' irritable bipolar hypo/manic mood states.
 雑誌        J Affect Disord 174:144-9 (2015)
 DOI:10.1016/j.jad.2014.11.042
 PMID:19922550
 著者        Cousins DA, Butts K, Young AH
 タイトル      The role of dopamine in bipolar disorder.
 雑誌        Bipolar Disord 11:787-806 (2009)
 DOI:10.1111/j.1399-5618.2009.00760.x
 PMID:23361832 (drug)
 著者        Citrome L
 タイトル      Cariprazine in bipolar disorder: clinical efficacy, tolerability, and place in therapy.
 雑誌        Adv Ther 30:102-13 (2013)
 DOI:10.1007/s12325-013-0004-9
 PMID:18689287 (drug)
 著者        Vieta E, Sanchez-Moreno J
 タイトル      Acute and long-term treatment of mania.
 雑誌        Dialogues Clin Neurosci 10:165-79 (2008)
 PMID:12949534
 著者        Kakiuchi C, Iwamoto K, Ishiwata M, Bundo M, Kasahara T, Kusumi I, Tsujita T, Okazaki Y, Nanko S, Kunugi H, Sasaki T, Kato T
 タイトル      Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder.
 雑誌        Nat Genet 35:171-5 (2003)
 DOI:10.1038/ng1235","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01653"">H01653</a>","双極性障害;
 躁うつ病
 下位グループ    大感情障害 (MAFD)","Bipolar disorder, previously known as manic depressive illness, is a severe chronic mood disorder, characterized by the recurrence of mania (hypomania), depression, or mixed episodes. It is one of the main causes of disability among young people, leading to cognitive and functional impairment and raised mortality, particularly death by suicide. Mania is the most characteristic phase of bipolar disorder. While mood elevation and euphoria are commonly described phenotypic descriptors of mania, irritability and anger may dominate. At the present time, there is solid evidence supporting the use of lithium, the anticonvulsants valproate and carbamazepine, and some antipsychotics in mania. Manic or hypomanic episodes differ in severity and length. In a hypomanic episode, a disturbance in functioning can be seen by others but does not typically cause severe impairment or require admission to hospital. At onset, most patients with bipolar disorder present with a depressive episode that differs subtly from unipolar depression. The first step in the management of bipolar disorder is to confirm the diagnosis of mania or hypomania and define the patient's mood state, because the therapeutic approach differs considerably for hypomania, mania, depression, and euthymia. While effective pharmacological treatments exist for bipolar disorder, the pathophysiology of the condition essentially remains unknown. Although bipolar disorder is one of the most heritable psychiatric disorders, a multifactorial model in which gene and environment interact is currently thought to best fit this disorder. Many risk alleles of small effect which are described in genome-wide association studies, contribute to the polygenic risk of bipolar disorder. It is suggested that the dopaminergic system may play a central role in bipolar disorder, although no singular dysfunction of neurotransmitter systems has been identified.",,"(MAFD7) XBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7494"">7494</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09027"">K09027</a>]",,,,"カルバマゼピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00252"">D00252</a>]
 バルプロ酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00710"">D00710</a>]
 ラモトリギン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00354"">D00354</a>]
 クロルプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00789"">D00789</a>]
 クロルプロマジンフェノールフタリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04034"">D04034</a>]
 レボメプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01520"">D01520</a>]
 レボメプロマジンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02248"">D02248</a>]
 ハロペリドール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00136"">D00136</a>]
 ルラシドン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04820"">D04820</a>]
 オランザピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00454"">D00454</a>]
 クエチアピンフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00458"">D00458</a>]
 スルトプリド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02208"">D02208</a>]
 炭酸リチウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00801"">D00801</a>]
 アリピプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01164"">D01164</a>]
 チミペロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02035"">D02035</a>]","Bipolar I disorder: At least one manic episode must be presented, although major depressive episodes are typical but not needed for diagnosis.
 Bipolar II disorder: At least one hypomanic episode and one major depressive episode are needed for diagnosis.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01646"">H01646</a> Major depressive disorder.","ICD-11: 6A60 6A61
 ICD-10: F31
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001714"">D001714</a>
 OMIM: <a href=""https://www.omim.org/entry/125480"">125480</a> <a href=""https://www.omim.org/entry/309200"">309200</a> <a href=""https://www.omim.org/entry/612371"">612371</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26388529"">26388529</a>
 著者        Grande I, Berk M, Birmaher B, Vieta E
 タイトル      Bipolar disorder.
 雑誌        Lancet 387:1561-72 (2016)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(15)00241-X"">10.1016/S0140-6736(15)00241-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25497471"">25497471</a>
 著者        Graham RK, Parker GB, Breakspear M, Mitchell PB
 タイトル      Clinical characteristics and temperament influences on 'happy' euphoric and 'snappy' irritable bipolar hypo/manic mood states.
 雑誌        J Affect Disord 174:144-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jad.2014.11.042"">10.1016/j.jad.2014.11.042</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19922550"">19922550</a>
 著者        Cousins DA, Butts K, Young AH
 タイトル      The role of dopamine in bipolar disorder.
 雑誌        Bipolar Disord 11:787-806 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1399-5618.2009.00760.x"">10.1111/j.1399-5618.2009.00760.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23361832"">23361832</a> (drug)
 著者        Citrome L
 タイトル      Cariprazine in bipolar disorder: clinical efficacy, tolerability, and place in therapy.
 雑誌        Adv Ther 30:102-13 (2013)
 DOI:<a href=""https://doi.org/10.1007/s12325-013-0004-9"">10.1007/s12325-013-0004-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18689287"">18689287</a> (drug)
 著者        Vieta E, Sanchez-Moreno J
 タイトル      Acute and long-term treatment of mania.
 雑誌        Dialogues Clin Neurosci 10:165-79 (2008)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12949534"">12949534</a>
 著者        Kakiuchi C, Iwamoto K, Ishiwata M, Bundo M, Kasahara T, Kusumi I, Tsujita T, Okazaki Y, Nanko S, Kunugi H, Sasaki T, Kato T
 タイトル      Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder.
 雑誌        Nat Genet 35:171-5 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1235"">10.1038/ng1235</a>"
H01654,扁平苔癬,,,"Lichen planus (LP) is a chronic inflammatory and immune mediated skin disease with characteristic clinical and histopathologic features. The skin and oral mucosa are the most frequently involved areas. Other mucous membranes (including the genitalia, esophagus, and conjunctiva) and skin appendages (e.g., scalp hair and nails) can also be affected. The etiology and pathogenesis of LP remain unclear. An autoimmune reaction in which CD8+-T lymphocytes attack basal keratinocytes leading to apoptosis of the cells has been favored. Various potential triggers, e.g. viral or bacterial antigens, metal ions, drugs or physical factors, could initiate the autoimmune process. Nonetheless, the role of the individual trigger factors is controversial. There is a significant association between lichen planus and infection with hepatitis C virus (HCV). The diagnosis of LP is based on the clinical presentation and should be confirmed by biopsy, if suspected. Histopathology is often conclusive, but in vesiculobullous cutaneous LP or erosive oral LP, direct immunofluorescence (DIF) studies can be an integral step in differentiating between LP and other diseases. With few exceptions, all forms of LP are treated with the same measures. Depending on the severity of the findings, topical and systemic treatment options are available.",皮膚および結合組織疾患; 免疫系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 トリアムシノロンアセトニド [DR:D00983]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾン吉草酸エステル [DR:D01948]
 ベタメタゾン吉草酸エステル [DR:D01357]
 アルクロメタゾンプロピオン酸エステル [DR:D01820]
 アムシノニド [DR:D01387]
 エトレチナート [DR:D00316]",,"ICD-11: EA91
 ICD-10: L43
 MeSH: D008010","PMID:22356325
 著者        Le Cleach L, Chosidow O
 タイトル      Clinical practice. Lichen planus.
 雑誌        N Engl J Med 366:723-32 (2012)
 DOI:10.1056/NEJMcp1103641
 PMID:24672362
 著者        Gorouhi F, Davari P, Fazel N
 タイトル      Cutaneous and mucosal lichen planus: a comprehensive review of clinical subtypes, risk factors, diagnosis, and prognosis.
 雑誌        ScientificWorldJournal 2014:742826 (2014)
 DOI:10.1155/2014/742826
 PMID:23320493
 著者        Wagner G, Rose C, Sachse MM
 タイトル      Clinical variants of lichen planus.
 雑誌        J Dtsch Dermatol Ges 11:309-19 (2013)
 DOI:10.1111/ddg.12031","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01654"">H01654</a>",扁平苔癬,"Lichen planus (LP) is a chronic inflammatory and immune mediated skin disease with characteristic clinical and histopathologic features. The skin and oral mucosa are the most frequently involved areas. Other mucous membranes (including the genitalia, esophagus, and conjunctiva) and skin appendages (e.g., scalp hair and nails) can also be affected. The etiology and pathogenesis of LP remain unclear. An autoimmune reaction in which CD8+-T lymphocytes attack basal keratinocytes leading to apoptosis of the cells has been favored. Various potential triggers, e.g. viral or bacterial antigens, metal ions, drugs or physical factors, could initiate the autoimmune process. Nonetheless, the role of the individual trigger factors is controversial. There is a significant association between lichen planus and infection with hepatitis C virus (HCV). The diagnosis of LP is based on the clinical presentation and should be confirmed by biopsy, if suspected. Histopathology is often conclusive, but in vesiculobullous cutaneous LP or erosive oral LP, direct immunofluorescence (DIF) studies can be an integral step in differentiating between LP and other diseases. With few exceptions, all forms of LP are treated with the same measures. Depending on the severity of the findings, topical and systemic treatment options are available.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01948"">D01948</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 アルクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01820"">D01820</a>]
 アムシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01387"">D01387</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]",,"ICD-11: EA91
 ICD-10: L43
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008010"">D008010</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22356325"">22356325</a>
 著者        Le Cleach L, Chosidow O
 タイトル      Clinical practice. Lichen planus.
 雑誌        N Engl J Med 366:723-32 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp1103641"">10.1056/NEJMcp1103641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24672362"">24672362</a>
 著者        Gorouhi F, Davari P, Fazel N
 タイトル      Cutaneous and mucosal lichen planus: a comprehensive review of clinical subtypes, risk factors, diagnosis, and prognosis.
 雑誌        ScientificWorldJournal 2014:742826 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/742826"">10.1155/2014/742826</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23320493"">23320493</a>
 著者        Wagner G, Rose C, Sachse MM
 タイトル      Clinical variants of lichen planus.
 雑誌        J Dtsch Dermatol Ges 11:309-19 (2013)
 DOI:<a href=""https://doi.org/10.1111/ddg.12031"">10.1111/ddg.12031</a>"
H01655,"多発血管炎性肉芽腫症;
 ウェゲナー肉芽腫症",,,"Granulomatosis with polyangitis (GPA) is an idiopathic, systemic inflammatory disease characterized by necrotizing granulomatous inflammation and pauci-immune small- vessel vasculitis of upper and lower respiratory tract and kidneys. The discovery of anti-neutrophil cytoplasmic antibodies (ANCAs) as a marker associated with GPA focused attention on the potential pathogenic role of these antibodies. Although it has been described that ANCAs recognise a variety of myeloid antigens, only antibodies that react with proteinase 3 (Pr3) and myeloperoxidase (MPO) have consistently been linked to vasculitis syndromes. Pr3-ANCA is the predominant autoantibody found in patients with GPA. The discovery of ANCA has made the diagnosis of this disease even more possible but there is almost always a need to confirm the diagnosis via histological examination of the lesional tissue.",皮膚および結合組織疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 アザチオプリン [DR:D00238]
 アバコパン [DR:D11093]
 シクロホスファミド水和物 [DR:D00287]
 リツキシマブ [DR:D02994]",,"ICD-11: 4A44.A1
 ICD-10: M31.3
 MeSH: D014890","PMID:23301777
 著者        Almouhawis HA, Leao JC, Fedele S, Porter SR
 タイトル      Wegener's granulomatosis: a review of clinical features and an update in diagnosis and treatment.
 雑誌        J Oral Pathol Med 42:507-16 (2013)
 DOI:10.1111/jop.12030
 PMID:15890083
 著者        Sarraf P, Sneller MC
 タイトル      Pathogenesis of Wegener's granulomatosis: current concepts.
 雑誌        Expert Rev Mol Med 7:1-19 (2005)
 DOI:10.1017/S146239940500921X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01655"">H01655</a>","多発血管炎性肉芽腫症;
 ウェゲナー肉芽腫症","Granulomatosis with polyangitis (GPA) is an idiopathic, systemic inflammatory disease characterized by necrotizing granulomatous inflammation and pauci-immune small- vessel vasculitis of upper and lower respiratory tract and kidneys. The discovery of anti-neutrophil cytoplasmic antibodies (ANCAs) as a marker associated with GPA focused attention on the potential pathogenic role of these antibodies. Although it has been described that ANCAs recognise a variety of myeloid antigens, only antibodies that react with proteinase 3 (Pr3) and myeloperoxidase (MPO) have consistently been linked to vasculitis syndromes. Pr3-ANCA is the predominant autoantibody found in patients with GPA. The discovery of ANCA has made the diagnosis of this disease even more possible but there is almost always a need to confirm the diagnosis via histological examination of the lesional tissue.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 アバコパン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11093"">D11093</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]",,"ICD-11: 4A44.A1
 ICD-10: M31.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014890"">D014890</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23301777"">23301777</a>
 著者        Almouhawis HA, Leao JC, Fedele S, Porter SR
 タイトル      Wegener's granulomatosis: a review of clinical features and an update in diagnosis and treatment.
 雑誌        J Oral Pathol Med 42:507-16 (2013)
 DOI:<a href=""https://doi.org/10.1111/jop.12030"">10.1111/jop.12030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15890083"">15890083</a>
 著者        Sarraf P, Sneller MC
 タイトル      Pathogenesis of Wegener's granulomatosis: current concepts.
 雑誌        Expert Rev Mol Med 7:1-19 (2005)
 DOI:<a href=""https://doi.org/10.1017/S146239940500921X"">10.1017/S146239940500921X</a>"
H01656,"乾癬;
 尋常性乾癬;
 関節症性乾癬",,,"Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are itchy, scaly, and flaky skin, swelling, pain, and disfiguring skin lesions. Plaque psoriasis is the most common form. Other forms include flexural, guttate, nail, inverse psoriasis, erythroderma, and psoriatic arthritis. Nail psoriasis can accompany any form of psoriasis or occur of its own accord. It can occur in any age group, but psoriatic arthritis usually develops between the ages of 30-50 years. Various factors such as bacterial infection, genetic and environmental factors, and immune disorders play an important role in causing psoriasis. Psoriasis is associated with several comorbidities, including cardiovascular disease, lymphoma, and depression. Psoriasis is an immune-mediated disease with genetic predisposition, but no distinct immunogen has been identified. The presence of cytokines, dendritic cells, and T lymphocytes in psoriatic lesions has prompted the development of biologic therapies. The diagnosis is usually clinical, based on the presence of typical erythematous scaly patches, papules, and plaques that are often pruritic and sometimes painful. Biopsy is rarely needed to confirm the diagnosis. First-line therapies for most patients are topical treatments such as topical corticosteroids and vitamin D analogs. For those with more severe or treatment-resistant disease, second- or third-line therapies include phototherapy, systemic therapies such as methotrexate, and more recently biologic therapies such as tumour necrosis factor (TNF) inhibitors.",皮膚疾患,,"(PSORS1) HLA-C [HSA:3107] [KO:K06751]
 (PSORS2) CARD14 [HSA:79092] [KO:K20913]
 (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124]
 (PSORS14) IL36RN [HSA:26525] [KO:K05483]
 (PSORS15) AP1S3 [HSA:130340] [KO:K12395]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シクロスポリン [DR:D00184]
 オロパタジン塩酸塩 [DR:D01192]
 エピナスチン塩酸塩 [DR:D01713]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 インフリキシマブ [DR:D02598]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 レゾルシン [DR:D00133]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 デキサメタゾン吉草酸エステル [DR:D01948]
 ヒドロコルチゾン酪酸エステル [DR:D01619]
 酪酸プロピオン酸ヒドロコルチゾン [DR:D01886]
 プレドニゾロン吉草酸エステル酢酸エステル [DR:D03301]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 フルオシノロンアセトニド [DR:D01825]
 フルオシノニド [DR:D00325]
 アルクロメタゾンプロピオン酸エステル [DR:D01820]
 ジフルコルトロン吉草酸エステル [DR:D01764]
 フルドロキシコルチド [DR:D00328]
 ジフロラゾン酢酸エステル [DR:D01327]
 アムシノニド [DR:D01387]
 ジフルプレドナート [DR:D01266]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 デプロドンプロピオン酸エステル [DR:D01434]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:D04773]
 フラジオマイシン硫酸塩・フルオシノロンアセトニド [DR:D04795]
 フラジオマイシン硫酸塩・ベタメタゾン吉草酸エステル [DR:D04796]
 ベンダザック [DR:D01594]
 クロタミトン・ヒドロコルチゾン [DR:D04801]
 デキサメタゾン・脱脂大豆乾留タール [DR:D08733]
 脱脂大豆乾留タール [DR:D08734]
 サリチル酸 [DR:D00097]
 イオウ [DR:D00024]
 カルシポトリオール [DR:D01125]
 タカルシトール水和物 [DR:D01472]
 マキサカルシトール [DR:D01098]
 カルシポトリオール・ベタメタゾンジプロピオン酸エステル [DR:D10534]
 マキサカルシトール・ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D10788]
 エトレチナート [DR:D00316]
 メトトレキサート [DR:D00142]
 アプレミラスト [DR:D08860]
 ウパダシチニブ水和物 [DR:D11048]
 アダリムマブ [DR:D02597]
 セルトリズマブペゴル [DR:D03441]
 ウステキヌマブ [DR:D09214]
 セクキヌマブ [DR:D09967]
 ブロダルマブ [DR:D10061]
 イキセキズマブ [DR:D10071]
 グセルクマブ [DR:D10438]
 チルドラキズマブ [DR:D10400]
 リサンキズマブ [DR:D11052]
 ビメキズマブ [DR:D11550]",,"ICD-11: EA90
 ICD-10: L40
 MeSH: D011565
 OMIM: 177900 602723 614070 614204 616106","PMID:25919064
 著者        Garg T, Rath G, Goyal AK
 タイトル      Nanotechnological approaches for the effective management of psoriasis.
 雑誌        Artif Cells Nanomed Biotechnol 44:1374-82 (2016)
 DOI:10.3109/21691401.2015.1037885
 PMID:23668525
 著者        Weigle N, McBane S
 タイトル      Psoriasis.
 雑誌        Am Fam Physician 87:626-33 (2013)
 PMID:24350319 (description, drug)
 著者        Burfield L, Burden AD
 タイトル      Psoriasis.
 雑誌        J R Coll Physicians Edinb 43:334-8; quiz 339 (2013)
 DOI:10.4997/JRCPE.2013.414
 PMID:15708945 (drug)
 著者        Lebwohl M, Ting PT, Koo JY
 タイトル      Psoriasis treatment: traditional therapy.
 雑誌        Ann Rheum Dis 64 Suppl 2:ii83-6 (2005)
 DOI:10.1136/ard.2004.030791
 PMID:25679142
 著者        Limaye K
 タイトル      Psoriasis: an overview and update.
 雑誌        Nurse Pract 40:23-6 (2015)
 DOI:10.1097/01.NPR.0000453651.30695.43
 PMID:10888604
 著者        Asumalahti K, Laitinen T, Itkonen-Vatjus R, Lokki ML, Suomela S, Snellman E, Saarialho-Kere U, Kere J
 タイトル      A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.
 雑誌        Hum Mol Genet 9:1533-42 (2000)
 DOI:10.1093/hmg/9.10.1533
 PMID:22521418
 著者        Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM
 タイトル      PSORS2 is due to mutations in CARD14.
 雑誌        Am J Hum Genet 90:784-95 (2012)
 DOI:10.1016/j.ajhg.2012.03.012
 PMID:20953186
 著者        Huffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Bohm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A
 タイトル      Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
 雑誌        Nat Genet 42:996-9 (2010)
 DOI:10.1038/ng.688
 PMID:22903787
 著者        Farooq M, Nakai H, Fujimoto A, Fujikawa H, Matsuyama A, Kariya N, Aizawa A, Fujiwara H, Ito M, Shimomura Y
 タイトル      Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.
 雑誌        Hum Mutat 34:176-83 (2013)
 DOI:10.1002/humu.22203
 PMID:24791904
 著者        Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F
 タイトル      AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
 雑誌        Am J Hum Genet 94:790-7 (2014)
 DOI:10.1016/j.ajhg.2014.04.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01656"">H01656</a>","乾癬;
 尋常性乾癬;
 関節症性乾癬","Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are itchy, scaly, and flaky skin, swelling, pain, and disfiguring skin lesions. Plaque psoriasis is the most common form. Other forms include flexural, guttate, nail, inverse psoriasis, erythroderma, and psoriatic arthritis. Nail psoriasis can accompany any form of psoriasis or occur of its own accord. It can occur in any age group, but psoriatic arthritis usually develops between the ages of 30-50 years. Various factors such as bacterial infection, genetic and environmental factors, and immune disorders play an important role in causing psoriasis. Psoriasis is associated with several comorbidities, including cardiovascular disease, lymphoma, and depression. Psoriasis is an immune-mediated disease with genetic predisposition, but no distinct immunogen has been identified. The presence of cytokines, dendritic cells, and T lymphocytes in psoriatic lesions has prompted the development of biologic therapies. The diagnosis is usually clinical, based on the presence of typical erythematous scaly patches, papules, and plaques that are often pruritic and sometimes painful. Biopsy is rarely needed to confirm the diagnosis. First-line therapies for most patients are topical treatments such as topical corticosteroids and vitamin D analogs. For those with more severe or treatment-resistant disease, second- or third-line therapies include phototherapy, systemic therapies such as methotrexate, and more recently biologic therapies such as tumour necrosis factor (TNF) inhibitors.",,"(PSORS1) HLA-C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3107"">3107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 (PSORS2) CARD14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79092"">79092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20913"">K20913</a>]
 (PSORS13) TRAF3IP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10758"">10758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21124"">K21124</a>]
 (PSORS14) IL36RN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26525"">26525</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05483"">K05483</a>]
 (PSORS15) AP1S3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:130340"">130340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12395"">K12395</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 オロパタジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01192"">D01192</a>]
 エピナスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01713"">D01713</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 レゾルシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00133"">D00133</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 デキサメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01948"">D01948</a>]
 ヒドロコルチゾン酪酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01619"">D01619</a>]
 酪酸プロピオン酸ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01886"">D01886</a>]
 プレドニゾロン吉草酸エステル酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03301"">D03301</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 フルオシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01825"">D01825</a>]
 フルオシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00325"">D00325</a>]
 アルクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01820"">D01820</a>]
 ジフルコルトロン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01764"">D01764</a>]
 フルドロキシコルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00328"">D00328</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 アムシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01387"">D01387</a>]
 ジフルプレドナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01266"">D01266</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 デプロドンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01434"">D01434</a>]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04773"">D04773</a>]
 フラジオマイシン硫酸塩・フルオシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04795"">D04795</a>]
 フラジオマイシン硫酸塩・ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04796"">D04796</a>]
 ベンダザック [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01594"">D01594</a>]
 クロタミトン・ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04801"">D04801</a>]
 デキサメタゾン・脱脂大豆乾留タール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08733"">D08733</a>]
 脱脂大豆乾留タール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08734"">D08734</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 イオウ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00024"">D00024</a>]
 カルシポトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01125"">D01125</a>]
 タカルシトール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01472"">D01472</a>]
 マキサカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01098"">D01098</a>]
 カルシポトリオール・ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10534"">D10534</a>]
 マキサカルシトール・ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10788"">D10788</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 アプレミラスト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08860"">D08860</a>]
 ウパダシチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11048"">D11048</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 セルトリズマブペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03441"">D03441</a>]
 ウステキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09214"">D09214</a>]
 セクキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09967"">D09967</a>]
 ブロダルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10061"">D10061</a>]
 イキセキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10071"">D10071</a>]
 グセルクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10438"">D10438</a>]
 チルドラキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10400"">D10400</a>]
 リサンキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11052"">D11052</a>]
 ビメキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11550"">D11550</a>]",,"ICD-11: EA90
 ICD-10: L40
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011565"">D011565</a>
 OMIM: <a href=""https://www.omim.org/entry/177900"">177900</a> <a href=""https://www.omim.org/entry/602723"">602723</a> <a href=""https://www.omim.org/entry/614070"">614070</a> <a href=""https://www.omim.org/entry/614204"">614204</a> <a href=""https://www.omim.org/entry/616106"">616106</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25919064"">25919064</a>
 著者        Garg T, Rath G, Goyal AK
 タイトル      Nanotechnological approaches for the effective management of psoriasis.
 雑誌        Artif Cells Nanomed Biotechnol 44:1374-82 (2016)
 DOI:<a href=""https://doi.org/10.3109/21691401.2015.1037885"">10.3109/21691401.2015.1037885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23668525"">23668525</a>
 著者        Weigle N, McBane S
 タイトル      Psoriasis.
 雑誌        Am Fam Physician 87:626-33 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24350319"">24350319</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Burfield L, Burden AD
 タイトル      Psoriasis.
 雑誌        J R Coll Physicians Edinb 43:334-8; quiz 339 (2013)
 DOI:<a href=""https://doi.org/10.4997/JRCPE.2013.414"">10.4997/JRCPE.2013.414</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15708945"">15708945</a> (drug)
 著者        Lebwohl M, Ting PT, Koo JY
 タイトル      Psoriasis treatment: traditional therapy.
 雑誌        Ann Rheum Dis 64 Suppl 2:ii83-6 (2005)
 DOI:<a href=""https://doi.org/10.1136/ard.2004.030791"">10.1136/ard.2004.030791</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25679142"">25679142</a>
 著者        Limaye K
 タイトル      Psoriasis: an overview and update.
 雑誌        Nurse Pract 40:23-6 (2015)
 DOI:<a href=""https://doi.org/10.1097/01.NPR.0000453651.30695.43"">10.1097/01.NPR.0000453651.30695.43</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10888604"">10888604</a>
 著者        Asumalahti K, Laitinen T, Itkonen-Vatjus R, Lokki ML, Suomela S, Snellman E, Saarialho-Kere U, Kere J
 タイトル      A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.
 雑誌        Hum Mol Genet 9:1533-42 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.10.1533"">10.1093/hmg/9.10.1533</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22521418"">22521418</a>
 著者        Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM
 タイトル      PSORS2 is due to mutations in CARD14.
 雑誌        Am J Hum Genet 90:784-95 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.012"">10.1016/j.ajhg.2012.03.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20953186"">20953186</a>
 著者        Huffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Bohm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A
 タイトル      Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
 雑誌        Nat Genet 42:996-9 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.688"">10.1038/ng.688</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22903787"">22903787</a>
 著者        Farooq M, Nakai H, Fujimoto A, Fujikawa H, Matsuyama A, Kariya N, Aizawa A, Fujiwara H, Ito M, Shimomura Y
 タイトル      Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.
 雑誌        Hum Mutat 34:176-83 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22203"">10.1002/humu.22203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24791904"">24791904</a>
 著者        Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F
 タイトル      AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
 雑誌        Am J Hum Genet 94:790-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.005"">10.1016/j.ajhg.2014.04.005</a>"
H01657,ネフローゼ症候群,,,"Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.",泌尿器系疾患,,"(NPHS1) NPHS1 [HSA:4868] [KO:K24496]
 (NPHS2) NPHS2 [HSA:7827] [KO:K18268]
 (NPHS3) PLCE1 [HSA:51196] [KO:K05860]
 (NPHS4) WT1 [HSA:7490] [KO:K09234]
 (NPHS5) LAMB2 [HSA:3913] [KO:K06243]
 (NPHS6) PTPRO [HSA:5800] [KO:K18035]
 (NPHS7) DGKE [HSA:8526] [KO:K00901]
 (NPHS8) ARHGDIA [HSA:396] [KO:K12462]
 (NPHS9) COQ8B [HSA:79934] [KO:K08869]
 (NPHS10) EMP2 [HSA:2013]
 (NPHS11) NUP107 [HSA:57122] [KO:K14301]
 (NPHS12) NUP93 [HSA:9688] [KO:K14309]
 (NPHS13) NUP205 [HSA:23165] [KO:K14310]
 (NPHS14) SGPL1 [HSA:8879] [KO:K01634]
 (NPHS15) MAGI2 [HSA:9863] [KO:K05629]
 (NPHS16) KANK2 [HSA:25959] [KO:K22808]
 (NPHS17) NUP85 [HSA:79902] [KO:K14304]
 (NPHS18) NUP133 [HSA:55746] [KO:K14300]
 (NPHS19) NUP160 [HSA:23279] [KO:K14303]
 (NPHS20) TBC1D8B [HSA:54885] [KO:K19951]
 (NPHS21) AVIL [HSA:10677] [KO:K08017]
 (NPHS22) NOS1AP [HSA:9722] [KO:K16513]
 (NPHS23) KIRREL1 [HSA:55243] [KO:K25874]
 (NPHS24) DAAM2 [HSA:23500] [KO:K04512]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シクロスポリン [DR:D00184]
 テトラコサクチド酢酸塩 [DR:D02105]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ミゾリビン [DR:D01392]
 シクロホスファミド水和物 [DR:D00287]
 リツキシマブ [DR:D02994]
 茵蔯蒿湯 [DR:D06917]
 越婢加朮湯 [DR:D06921]
 五苓散エキス [DR:D06960]
 真武湯エキス [DR:D06995]
 猪苓湯 [DR:D07014]
 当帰芍薬散エキス [DR:D07021]
 防已黄耆湯エキス [DR:D07040]
 木防已湯 [DR:D07047]",,"ICD-11: GB41
 ICD-10: N04
 MeSH: D009404
 OMIM: 256300 600995 610725 256370 614199 614196 615008 615244 615573 615861 616730 616892 616893 617575 617609 617783 618176 618177 618178 301028 618594 619155 619201 619263","PMID:21691316
 著者        Gubler MC
 タイトル      Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
 雑誌        Nat Rev Nephrol 7:430-1 (2011)
 DOI:10.1038/nrneph.2011.75
 PMID:20969579
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:10.1111/j.1749-6632.2010.05817.x
 PMID:28117080 (NPHS1-13)
 著者        Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
 タイトル      Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
 雑誌        Kidney Int 91:937-947 (2017)
 DOI:10.1016/j.kint.2016.10.013
 PMID:28181337 (NPHS14)
 著者        Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Muller T
 タイトル      Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
 雑誌        Hum Mutat 38:365-372 (2017)
 DOI:10.1002/humu.23192
 PMID:27932480 (NPHS15)
 著者        Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA
 タイトル      MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
 雑誌        J Am Soc Nephrol 28:1614-1621 (2017)
 DOI:10.1681/ASN.2016040387
 PMID:25961457 (NPHS16)
 著者        Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F
 タイトル      KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
 雑誌        J Clin Invest 125:2375-84 (2015)
 DOI:10.1172/JCI79504
 PMID:30179222 (NPHS12_13_17_18_19)
 著者        Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
 タイトル      Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
 雑誌        J Clin Invest 128:4313-4328 (2018)
 DOI:10.1172/JCI98688
 PMID:29058690 (NPHS21)
 著者        Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Feher K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F
 タイトル      Advillin acts upstream of phospholipase C 1 in steroid-resistant nephrotic syndrome.
 雑誌        J Clin Invest 127:4257-4269 (2017)
 DOI:10.1172/JCI94138
 PMID:33523862 (NPHS22)
 著者        Majmundar AJ, Buerger F, Forbes TA, Klambt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F
 タイトル      Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
 雑誌        Sci Adv 7:eabe1386 (2021)
 DOI:10.1126/sciadv.abe1386
 PMID:31472902 (NPHS23)
 著者        Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
 タイトル      Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
 雑誌        Kidney Int 96:883-889 (2019)
 DOI:10.1016/j.kint.2019.06.016
 PMID:33232676 (NPHS24)
 著者        Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klambt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F
 タイトル      DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
 雑誌        Am J Hum Genet 107:1113-1128 (2020)
 DOI:10.1016/j.ajhg.2020.11.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01657"">H01657</a>",ネフローゼ症候群,"Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.",,"(NPHS1) NPHS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4868"">4868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24496"">K24496</a>]
 (NPHS2) NPHS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7827"">7827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18268"">K18268</a>]
 (NPHS3) PLCE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51196"">51196</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05860"">K05860</a>]
 (NPHS4) WT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7490"">7490</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09234"">K09234</a>]
 (NPHS5) LAMB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3913"">3913</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06243"">K06243</a>]
 (NPHS6) PTPRO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5800"">5800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18035"">K18035</a>]
 (NPHS7) DGKE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8526"">8526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00901"">K00901</a>]
 (NPHS8) ARHGDIA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:396"">396</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12462"">K12462</a>]
 (NPHS9) COQ8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79934"">79934</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08869"">K08869</a>]
 (NPHS10) EMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2013"">2013</a>]
 (NPHS11) NUP107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57122"">57122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14301"">K14301</a>]
 (NPHS12) NUP93 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9688"">9688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14309"">K14309</a>]
 (NPHS13) NUP205 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23165"">23165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14310"">K14310</a>]
 (NPHS14) SGPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8879"">8879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01634"">K01634</a>]
 (NPHS15) MAGI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9863"">9863</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05629"">K05629</a>]
 (NPHS16) KANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25959"">25959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22808"">K22808</a>]
 (NPHS17) NUP85 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79902"">79902</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14304"">K14304</a>]
 (NPHS18) NUP133 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55746"">55746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14300"">K14300</a>]
 (NPHS19) NUP160 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23279"">23279</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14303"">K14303</a>]
 (NPHS20) TBC1D8B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54885"">54885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19951"">K19951</a>]
 (NPHS21) AVIL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10677"">10677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08017"">K08017</a>]
 (NPHS22) NOS1AP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9722"">9722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16513"">K16513</a>]
 (NPHS23) KIRREL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55243"">55243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25874"">K25874</a>]
 (NPHS24) DAAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23500"">23500</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04512"">K04512</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 テトラコサクチド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02105"">D02105</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ミゾリビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01392"">D01392</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]
 茵蔯蒿湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06917"">D06917</a>]
 越婢加朮湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06921"">D06921</a>]
 五苓散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06960"">D06960</a>]
 真武湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06995"">D06995</a>]
 猪苓湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07014"">D07014</a>]
 当帰芍薬散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07021"">D07021</a>]
 防已黄耆湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07040"">D07040</a>]
 木防已湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07047"">D07047</a>]",,"ICD-11: GB41
 ICD-10: N04
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009404"">D009404</a>
 OMIM: <a href=""https://www.omim.org/entry/256300"">256300</a> <a href=""https://www.omim.org/entry/600995"">600995</a> <a href=""https://www.omim.org/entry/610725"">610725</a> <a href=""https://www.omim.org/entry/256370"">256370</a> <a href=""https://www.omim.org/entry/614199"">614199</a> <a href=""https://www.omim.org/entry/614196"">614196</a> <a href=""https://www.omim.org/entry/615008"">615008</a> <a href=""https://www.omim.org/entry/615244"">615244</a> <a href=""https://www.omim.org/entry/615573"">615573</a> <a href=""https://www.omim.org/entry/615861"">615861</a> <a href=""https://www.omim.org/entry/616730"">616730</a> <a href=""https://www.omim.org/entry/616892"">616892</a> <a href=""https://www.omim.org/entry/616893"">616893</a> <a href=""https://www.omim.org/entry/617575"">617575</a> <a href=""https://www.omim.org/entry/617609"">617609</a> <a href=""https://www.omim.org/entry/617783"">617783</a> <a href=""https://www.omim.org/entry/618176"">618176</a> <a href=""https://www.omim.org/entry/618177"">618177</a> <a href=""https://www.omim.org/entry/618178"">618178</a> <a href=""https://www.omim.org/entry/301028"">301028</a> <a href=""https://www.omim.org/entry/618594"">618594</a> <a href=""https://www.omim.org/entry/619155"">619155</a> <a href=""https://www.omim.org/entry/619201"">619201</a> <a href=""https://www.omim.org/entry/619263"">619263</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21691316"">21691316</a>
 著者        Gubler MC
 タイトル      Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
 雑誌        Nat Rev Nephrol 7:430-1 (2011)
 DOI:<a href=""https://doi.org/10.1038/nrneph.2011.75"">10.1038/nrneph.2011.75</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20969579"">20969579</a>
 著者        Benoit G, Machuca E, Heidet L, Antignac C
 タイトル      Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
 雑誌        Ann N Y Acad Sci 1214:83-98 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05817.x"">10.1111/j.1749-6632.2010.05817.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28117080"">28117080</a> (NPHS1-13)
 著者        Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
 タイトル      Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
 雑誌        Kidney Int 91:937-947 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.kint.2016.10.013"">10.1016/j.kint.2016.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28181337"">28181337</a> (NPHS14)
 著者        Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Muller T
 タイトル      Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
 雑誌        Hum Mutat 38:365-372 (2017)
 DOI:<a href=""https://doi.org/10.1002/humu.23192"">10.1002/humu.23192</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27932480"">27932480</a> (NPHS15)
 著者        Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA
 タイトル      MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
 雑誌        J Am Soc Nephrol 28:1614-1621 (2017)
 DOI:<a href=""https://doi.org/10.1681/ASN.2016040387"">10.1681/ASN.2016040387</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25961457"">25961457</a> (NPHS16)
 著者        Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F
 タイトル      KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
 雑誌        J Clin Invest 125:2375-84 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI79504"">10.1172/JCI79504</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30179222"">30179222</a> (NPHS12_13_17_18_19)
 著者        Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
 タイトル      Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
 雑誌        J Clin Invest 128:4313-4328 (2018)
 DOI:<a href=""https://doi.org/10.1172/JCI98688"">10.1172/JCI98688</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29058690"">29058690</a> (NPHS21)
 著者        Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Feher K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F
 タイトル      Advillin acts upstream of phospholipase C 1 in steroid-resistant nephrotic syndrome.
 雑誌        J Clin Invest 127:4257-4269 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI94138"">10.1172/JCI94138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33523862"">33523862</a> (NPHS22)
 著者        Majmundar AJ, Buerger F, Forbes TA, Klambt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F
 タイトル      Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
 雑誌        Sci Adv 7:eabe1386 (2021)
 DOI:<a href=""https://doi.org/10.1126/sciadv.abe1386"">10.1126/sciadv.abe1386</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31472902"">31472902</a> (NPHS23)
 著者        Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
 タイトル      Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
 雑誌        Kidney Int 96:883-889 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.kint.2019.06.016"">10.1016/j.kint.2019.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33232676"">33232676</a> (NPHS24)
 著者        Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klambt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F
 タイトル      DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
 雑誌        Am J Hum Genet 107:1113-1128 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.11.008"">10.1016/j.ajhg.2020.11.008</a>"
H01658,顕微鏡的多発血管炎,,,"Microscopic polyangiitis (MPA) is an idiopathic autoimmune disease characterized by systemic vasculitis. MPA predominantly affects small-calibre blood vessels and is associated with the presence of antineutrophil cytoplasmic autoantibodies (ANCA). The association with ANCAs originally defined the group of ANCA-associated vasculitides, comprising granulomatosis with polyangitis (GPA, formerly known as Wegener granulomatosis) [DS:H01655], microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA, formerly known as Churg-Strauss syndrome) [DS:H01468], which have different frequencies of ANCA-positivity. ANCA in MPA are predominantly directed against myeloperoxidase (MPO-ANCA) but may, in a minority of patients, be directed against proteinase 3 (PR3-ANCA). Not all patients, however, have ANCA. MPA is clinically characterized by small-vessel vasculitis primarily affecting the kidneys and the lungs but other organs may be involved as well. Renal involvement, which can be the only manifestation, is clinically apparent as rapidly progressive glomerulonephritis and histopathologically as pauci-immune necrotizing and crescentic glomerulonephritis. Diagnosis is mainly established by clinical manifestations, computed tomography (TC), ANCA antibody detection, and renal and pulmonary biopsy. The introduction of aggressive immunosuppressive treatment has substantially improved the prognosis. The standardized therapeutic regimen is based on cyclophosphamide and corticosteroids. Using this regimen, remission can be achieved in most of the patients. Rituximab may represent an important alternative to cyclophosphamide for patients who may not respond adequately to antimetabolite therapies.",皮膚および結合組織疾患; 免疫系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 アザチオプリン [DR:D00238]
 アバコパン [DR:D11093]
 シクロホスファミド水和物 [DR:D00287]
 リツキシマブ [DR:D02994]",,"ICD-11: 4A44.A0
 ICD-10: M31.7
 MeSH: D055953","PMID:25992801 (description, drug)
 著者        Greco A, De Virgilio A, Rizzo MI, Gallo A, Magliulo G, Fusconi M, Ruoppolo G, Tombolini M, Turchetta R, de Vincentiis M
 タイトル      Microscopic polyangiitis: Advances in diagnostic and therapeutic approaches.
 雑誌        Autoimmun Rev 14:837-44 (2015)
 DOI:10.1016/j.autrev.2015.05.005
 PMID:24461388
 著者        Kallenberg CG
 タイトル      The diagnosis and classification of microscopic polyangiitis.
 雑誌        J Autoimmun 48-49:90-3 (2014)
 DOI:10.1016/j.jaut.2014.01.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01658"">H01658</a>",顕微鏡的多発血管炎,"Microscopic polyangiitis (MPA) is an idiopathic autoimmune disease characterized by systemic vasculitis. MPA predominantly affects small-calibre blood vessels and is associated with the presence of antineutrophil cytoplasmic autoantibodies (ANCA). The association with ANCAs originally defined the group of ANCA-associated vasculitides, comprising granulomatosis with polyangitis (GPA, formerly known as Wegener granulomatosis) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01655],"">H01655],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:microscopic"">microscopic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:polyangiitis"">polyangiitis</a> (MPA), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:eosinophilic"">eosinophilic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:granulomatosis"">granulomatosis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:polyangiitis"">polyangiitis</a> (EGPA, <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:formerly"">formerly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:known"">known</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Churg-Strauss"">Churg-Strauss</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome)"">syndrome)</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01468],"">H01468],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:different"">different</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:frequencies"">frequencies</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ANCA-positivity."">ANCA-positivity.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ANCA"">ANCA</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MPA"">MPA</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:predominantly"">predominantly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:directed"">directed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:against"">against</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:myeloperoxidase"">myeloperoxidase</a> (MPO-ANCA) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may,"">may,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:minority"">minority</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients,"">patients,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:directed"">directed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:against"">against</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:proteinase"">proteinase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:3"">3</a> (PR3-ANCA). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Not"">Not</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:all"">all</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients,"">patients,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:however,"">however,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ANCA."">ANCA.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MPA"">MPA</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinically"">clinically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:characterized"">characterized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:small-vessel"">small-vessel</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:vasculitis"">vasculitis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:primarily"">primarily</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:affecting"">affecting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:kidneys"">kidneys</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lungs"">lungs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:other"">other</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:organs"">organs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:involved"">involved</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:well."">well.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Renal"">Renal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:involvement,"">involvement,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:only"">only</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:manifestation,"">manifestation,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinically"">clinically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:apparent"">apparent</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rapidly"">rapidly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:progressive"">progressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glomerulonephritis"">glomerulonephritis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:histopathologically"">histopathologically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pauci-immune"">pauci-immune</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:necrotizing"">necrotizing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:crescentic"">crescentic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glomerulonephritis."">glomerulonephritis.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Diagnosis"">Diagnosis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mainly"">mainly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:established"">established</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clinical"">clinical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:manifestations,"">manifestations,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:computed"">computed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tomography"">tomography</a> (TC), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ANCA"">ANCA</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:antibody"">antibody</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:detection,"">detection,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:renal"">renal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pulmonary"">pulmonary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:biopsy."">biopsy.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:introduction"">introduction</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:aggressive"">aggressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:immunosuppressive"">immunosuppressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:treatment"">treatment</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:substantially"">substantially</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:improved"">improved</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:prognosis."">prognosis.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:standardized"">standardized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:therapeutic"">therapeutic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:regimen"">regimen</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:based"">based</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cyclophosphamide"">cyclophosphamide</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:corticosteroids."">corticosteroids.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Using"">Using</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:this"">this</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:regimen,"">regimen,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:remission"">remission</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:achieved"">achieved</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients."">patients.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Rituximab"">Rituximab</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:represent"">represent</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:important"">important</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:alternative"">alternative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cyclophosphamide"">cyclophosphamide</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:who"">who</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:not"">not</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respond"">respond</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adequately"">adequately</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:antimetabolite"">antimetabolite</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:therapies."">therapies.</a>",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 アバコパン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11093"">D11093</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 リツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02994"">D02994</a>]",,"ICD-11: 4A44.A0
 ICD-10: M31.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055953"">D055953</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25992801"">25992801</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Greco A, De Virgilio A, Rizzo MI, Gallo A, Magliulo G, Fusconi M, Ruoppolo G, Tombolini M, Turchetta R, de Vincentiis M
 タイトル      Microscopic polyangiitis: Advances in diagnostic and therapeutic approaches.
 雑誌        Autoimmun Rev 14:837-44 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2015.05.005"">10.1016/j.autrev.2015.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24461388"">24461388</a>
 著者        Kallenberg CG
 タイトル      The diagnosis and classification of microscopic polyangiitis.
 雑誌        J Autoimmun 48-49:90-3 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2014.01.023"">10.1016/j.jaut.2014.01.023</a>"
H01659,毛孔性紅色粃糠疹,,,"Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic papules on an erythematous base that can eventually coalesce to large red plaques. Its classification into five subgroups is based on age at onset, clinical course, morphologic features, and prognosis. More than 50% of patients are best classified as type I with adult-onset PRP. It is comprised of widespread, follicular papules and plaques and tends to clear spontaneously in 80% of patients in one to three years. Type II, which is the atypical adult subtype, tends to be more chronic and presents with areas of alopecia, eczematous patches, and a palmoplantar keratoderma. The classic juvenile type III is observed in only 10% of patients. It is similar clinically to type I but occurs in children and tends to remit in one year. Type IV, which is the circumscribed, juvenile subtype, presents with sharply-demarcated areas of follicular hyperkeratosis and erythema of the elbows and knees. An estimated 5% of children with PRP develop an atypical form classified as juvenile type V. Most familial cases that are published belong to this group. Recently, the designation of a new category of PRP (type VI) has been proposed that is characterized by the presence of HIV infection with different clinical features and a poorer prognosis. Treatment of PRP can be difficult, and no standardized approach has been established, although systemic retinoids are considered first-line therapy. Cyclosporin, methotrexate, and azathioprine are alternatives.",皮膚および結合組織疾患,,CARD14 [HSA:79092] [KO:K20913],,,,"ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ジフロラゾン酢酸エステル [DR:D01327]
 タカルシトール水和物 [DR:D01472]
 エトレチナート [DR:D00316]",,"ICD-11: EA94
 ICD-10: L44.0
 MeSH: D010916
 OMIM: 173200","PMID:23286804
 著者        Leger M, Newlove T, Robinson M, Patel R, Meehan S, Ramachandran S
 タイトル      Pityriasis rubra pilaris.
 雑誌        Dermatol Online J 18:14 (2012)
 PMID:22508269
 著者        Ivanova K, Itin P, Haeusermann P
 タイトル      Pityriasis rubra pilaris: treatment with biologics - a new promising therapy?
 雑誌        Dermatology 224:120-5 (2012)
 DOI:10.1159/000337546
 PMID:20184391
 著者        Klein A, Landthaler M, Karrer S
 タイトル      Pityriasis rubra pilaris: a review of diagnosis and treatment.
 雑誌        Am J Clin Dermatol 11:157-70 (2010)
 DOI:10.2165/11530070-000000000-00000
 PMID:22703878
 著者        Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E
 タイトル      Familial pityriasis rubra pilaris is caused by mutations in CARD14.
 雑誌        Am J Hum Genet 91:163-70 (2012)
 DOI:10.1016/j.ajhg.2012.05.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01659"">H01659</a>",毛孔性紅色粃糠疹,"Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic papules on an erythematous base that can eventually coalesce to large red plaques. Its classification into five subgroups is based on age at onset, clinical course, morphologic features, and prognosis. More than 50% of patients are best classified as type I with adult-onset PRP. It is comprised of widespread, follicular papules and plaques and tends to clear spontaneously in 80% of patients in one to three years. Type II, which is the atypical adult subtype, tends to be more chronic and presents with areas of alopecia, eczematous patches, and a palmoplantar keratoderma. The classic juvenile type III is observed in only 10% of patients. It is similar clinically to type I but occurs in children and tends to remit in one year. Type IV, which is the circumscribed, juvenile subtype, presents with sharply-demarcated areas of follicular hyperkeratosis and erythema of the elbows and knees. An estimated 5% of children with PRP develop an atypical form classified as juvenile type V. Most familial cases that are published belong to this group. Recently, the designation of a new category of PRP (type VI) has been proposed that is characterized by the presence of HIV infection with different clinical features and a poorer prognosis. Treatment of PRP can be difficult, and no standardized approach has been established, although systemic retinoids are considered first-line therapy. Cyclosporin, methotrexate, and azathioprine are alternatives.",,"CARD14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79092"">79092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20913"">K20913</a>]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 タカルシトール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01472"">D01472</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]",,"ICD-11: EA94
 ICD-10: L44.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010916"">D010916</a>
 OMIM: <a href=""https://www.omim.org/entry/173200"">173200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23286804"">23286804</a>
 著者        Leger M, Newlove T, Robinson M, Patel R, Meehan S, Ramachandran S
 タイトル      Pityriasis rubra pilaris.
 雑誌        Dermatol Online J 18:14 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22508269"">22508269</a>
 著者        Ivanova K, Itin P, Haeusermann P
 タイトル      Pityriasis rubra pilaris: treatment with biologics - a new promising therapy?
 雑誌        Dermatology 224:120-5 (2012)
 DOI:<a href=""https://doi.org/10.1159/000337546"">10.1159/000337546</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20184391"">20184391</a>
 著者        Klein A, Landthaler M, Karrer S
 タイトル      Pityriasis rubra pilaris: a review of diagnosis and treatment.
 雑誌        Am J Clin Dermatol 11:157-70 (2010)
 DOI:<a href=""https://doi.org/10.2165/11530070-000000000-00000"">10.2165/11530070-000000000-00000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22703878"">22703878</a>
 著者        Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E
 タイトル      Familial pityriasis rubra pilaris is caused by mutations in CARD14.
 雑誌        Am J Hum Genet 91:163-70 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.010"">10.1016/j.ajhg.2012.05.010</a>"
H01660,"ジベルばら色粃糠疹;
 バラ色粃糠疹",,,"Pityriasis rosea (PR) is an acute exanthem, which prevalently affects children and young adults. The cause of PR is uncertain but epidemiological (seasonal variation and clustering in communities) and clinical features suggest an infective agent. Light and electron microscopy findings suggest infection with human herpesviruses 6 and 7 (HHV-6/7). HHV-6 and HHV-7 may also interact with each other, explaining recurrences and atypical presentations. PR is self limiting and resolves within one to three months. It typically starts with the development of a large erythematous scaly plaque also called the herald patch or mother patch on trunk or neck, which is followed by an eruption of multiple secondary small erythematous scaly lesions located predominantly on the trunk and following the lines of cleavage on the back (Christmas tree or inverted fir tree appearance). Collarette scaling is seen typically. The eruption is usually preceded by a prodrome of sore throat, gastrointestinal disturbance, fever, and arthralgia. A case of PR is diagnosed mainly on clinical grounds. A biopsy is needed in atypical cases, and it mainly helps in excluding other differentials rather than diagnosing PR as the histopathological examination in a case of PR is relatively nonspecific and resembles a subacute or chronic dermatitis. As PR is a self-limiting disorder, most patients just need to be counseled regarding the natural course of the disease instead of putting them on an aggressive treatment protocol. Most patients would just need emollients, antihistaminics, and sometimes topical steroids to control pruritus.",皮膚および結合組織疾患,,,"Human herpesvirus 6
 Human herpesvirus 7",,,"モメタゾンフランカルボン酸エステル [DR:D00690]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 アルクロメタゾンプロピオン酸エステル [DR:D01820]
 ジフルプレドナート [DR:D01266]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 デプロドンプロピオン酸エステル [DR:D01434]",,"ICD-11: EA10
 ICD-10: L42
 MeSH: D017515","PMID:25200809
 著者        Guarneri F, Cannavo SP, Minciullo PL, Gangemi S
 タイトル      Pityriasis rosea of Gibert: immunological aspects.
 雑誌        J Eur Acad Dermatol Venereol 29:21-5 (2015)
 DOI:10.1111/jdv.12701
 PMID:27512182
 著者        Mahajan K, Relhan V, Relhan AK, Garg VK
 タイトル      Pityriasis Rosea: An Update on Etiopathogenesis and Management of Difficult Aspects.
 雑誌        Indian J Dermatol 61:375-84 (2016)
 DOI:10.4103/0019-5154.185699
 PMID:26514823
 著者        Eisman S, Sinclair R
 タイトル      Pityriasis rosea.
 雑誌        BMJ 351:h5233 (2015)
 DOI:10.1136/bmj.h5233
 PMID:11720179 (pathogen)
 著者        Chuh AA, Chiu SS, Peiris JS
 タイトル      Human herpesvirus 6 and 7 DNA in peripheral blood leucocytes and plasma in patients with pityriasis rosea by polymerase chain reaction: a prospective case control study.
 雑誌        Acta Derm Venereol 81:289-90 (2001)
 DOI:10.1080/00015550152572958","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01660"">H01660</a>","ジベルばら色粃糠疹;
 バラ色粃糠疹","Pityriasis rosea (PR) is an acute exanthem, which prevalently affects children and young adults. The cause of PR is uncertain but epidemiological (seasonal variation and clustering in communities) and clinical features suggest an infective agent. Light and electron microscopy findings suggest infection with human herpesviruses 6 and 7 (HHV-6/7). HHV-6 and HHV-7 may also interact with each other, explaining recurrences and atypical presentations. PR is self limiting and resolves within one to three months. It typically starts with the development of a large erythematous scaly plaque also called the herald patch or mother patch on trunk or neck, which is followed by an eruption of multiple secondary small erythematous scaly lesions located predominantly on the trunk and following the lines of cleavage on the back (Christmas tree or inverted fir tree appearance). Collarette scaling is seen typically. The eruption is usually preceded by a prodrome of sore throat, gastrointestinal disturbance, fever, and arthralgia. A case of PR is diagnosed mainly on clinical grounds. A biopsy is needed in atypical cases, and it mainly helps in excluding other differentials rather than diagnosing PR as the histopathological examination in a case of PR is relatively nonspecific and resembles a subacute or chronic dermatitis. As PR is a self-limiting disorder, most patients just need to be counseled regarding the natural course of the disease instead of putting them on an aggressive treatment protocol. Most patients would just need emollients, antihistaminics, and sometimes topical steroids to control pruritus.",,,"Human herpesvirus 6
 Human herpesvirus 7",,,"モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 アルクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01820"">D01820</a>]
 ジフルプレドナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01266"">D01266</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 デプロドンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01434"">D01434</a>]",,"ICD-11: EA10
 ICD-10: L42
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017515"">D017515</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25200809"">25200809</a>
 著者        Guarneri F, Cannavo SP, Minciullo PL, Gangemi S
 タイトル      Pityriasis rosea of Gibert: immunological aspects.
 雑誌        J Eur Acad Dermatol Venereol 29:21-5 (2015)
 DOI:<a href=""https://doi.org/10.1111/jdv.12701"">10.1111/jdv.12701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27512182"">27512182</a>
 著者        Mahajan K, Relhan V, Relhan AK, Garg VK
 タイトル      Pityriasis Rosea: An Update on Etiopathogenesis and Management of Difficult Aspects.
 雑誌        Indian J Dermatol 61:375-84 (2016)
 DOI:<a href=""https://doi.org/10.4103/0019-5154.185699"">10.4103/0019-5154.185699</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26514823"">26514823</a>
 著者        Eisman S, Sinclair R
 タイトル      Pityriasis rosea.
 雑誌        BMJ 351:h5233 (2015)
 DOI:<a href=""https://doi.org/10.1136/bmj.h5233"">10.1136/bmj.h5233</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11720179"">11720179</a> (pathogen)
 著者        Chuh AA, Chiu SS, Peiris JS
 タイトル      Human herpesvirus 6 and 7 DNA in peripheral blood leucocytes and plasma in patients with pityriasis rosea by polymerase chain reaction: a prospective case control study.
 雑誌        Acta Derm Venereol 81:289-90 (2001)
 DOI:<a href=""https://doi.org/10.1080/00015550152572958"">10.1080/00015550152572958</a>"
H01661,"黄色腫
 下位グループ    脳腱黄色腫症 [DS:H00151]",,,"Xanthomas are benign and usually yellow plaques, papules, or nodules that develop in the cutis and subcutaneous tissue. They evolve as clusters of foam cells and favor the neck, upper trunk, flexural folds and periorbital region. The foam cells are formed from macrophages as a consequence of gradual intracellular accumulation of lipids taken up by specific receptors or by the mechanism of phagocytosis. They are seen in several lipidoses and are usually indicative of a derangement in lipoprotein metabolism, in particular familial hypercholesterolemia. Prevention of xanthomas goes hand in hand with the management of the underlying disorders of lipid metabolism. Normolipemic xanthomatosis may be seen in several rare conditions.",皮膚疾患; 先天性代謝異常症,,,,,,プロブコール [DR:D00476],,"ICD-11: EB90.2
 ICD-10: E75.5 E78
 MeSH: D014973
 OMIM: 602247","PMID:24781043
 著者        Zak A, Zeman M, Slaby A, Vecka M
 タイトル      Xanthomas: clinical and pathophysiological relations.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 158:181-8 (2014)
 DOI:10.5507/bp.2014.016
 PMID:23112520
 著者        Babu R, Venkataram A, Santhosh S, Shivaswamy S
 タイトル      Giant Tuberous Xanthomas in a Case of Type IIA Hypercholesterolemia.
 雑誌        J Cutan Aesthet Surg 5:204-6 (2012)
 DOI:10.4103/0974-2077.101384
 PMID:23741215 (drug)
 著者        Miyagawa F, Fukumoto T, Kobayashi N, Asada H
 タイトル      Successful treatment of diffuse normolipemic plane xanthoma with probucol.
 雑誌        Case Rep Dermatol 5:148-51 (2013)
 DOI:10.1159/000351682
 PMID:20043058
 著者        Pietroleonardo L, Ruzicka T
 タイトル      Skin manifestations in familial heterozygous hypercholesterolemia.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 18:183-7 (2009)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01661"">H01661</a>","黄色腫
 下位グループ    脳腱黄色腫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00151"">H00151</a>]","Xanthomas are benign and usually yellow plaques, papules, or nodules that develop in the cutis and subcutaneous tissue. They evolve as clusters of foam cells and favor the neck, upper trunk, flexural folds and periorbital region. The foam cells are formed from macrophages as a consequence of gradual intracellular accumulation of lipids taken up by specific receptors or by the mechanism of phagocytosis. They are seen in several lipidoses and are usually indicative of a derangement in lipoprotein metabolism, in particular familial hypercholesterolemia. Prevention of xanthomas goes hand in hand with the management of the underlying disorders of lipid metabolism. Normolipemic xanthomatosis may be seen in several rare conditions.",,,,,,"プロブコール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00476"">D00476</a>]",,"ICD-11: EB90.2
 ICD-10: E75.5 E78
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014973"">D014973</a>
 OMIM: <a href=""https://www.omim.org/entry/602247"">602247</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24781043"">24781043</a>
 著者        Zak A, Zeman M, Slaby A, Vecka M
 タイトル      Xanthomas: clinical and pathophysiological relations.
 雑誌        Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 158:181-8 (2014)
 DOI:<a href=""https://doi.org/10.5507/bp.2014.016"">10.5507/bp.2014.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23112520"">23112520</a>
 著者        Babu R, Venkataram A, Santhosh S, Shivaswamy S
 タイトル      Giant Tuberous Xanthomas in a Case of Type IIA Hypercholesterolemia.
 雑誌        J Cutan Aesthet Surg 5:204-6 (2012)
 DOI:<a href=""https://doi.org/10.4103/0974-2077.101384"">10.4103/0974-2077.101384</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23741215"">23741215</a> (drug)
 著者        Miyagawa F, Fukumoto T, Kobayashi N, Asada H
 タイトル      Successful treatment of diffuse normolipemic plane xanthoma with probucol.
 雑誌        Case Rep Dermatol 5:148-51 (2013)
 DOI:<a href=""https://doi.org/10.1159/000351682"">10.1159/000351682</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20043058"">20043058</a>
 著者        Pietroleonardo L, Ruzicka T
 タイトル      Skin manifestations in familial heterozygous hypercholesterolemia.
 雑誌        Acta Dermatovenerol Alp Pannonica Adriat 18:183-7 (2009)"
H01662,"全般性不安障害;
 不安神経症",,,"Generalized anxiety disorder is a persistent and common mental disorder. This disorder is twice as common in women than it is in men. The symptoms include generalised and persistent excessive anxiety and a combination of various psychological and somatic complaints, such as threat, restlessness, irritability, sleep disturbance, tension, palpitations, dry mouth, and sweating. The symptoms overlap greatly with those of other mental disorders and we could regard the disorder as part of a spectrum of mood and related disorders rather than an independent disorder. Generalized anxiety disorder has a relapsing course, and intervention rarely results in complete resolution of symptoms. But in the short term and medium term, effective treatments include psychological therapies, such as cognitive behavioural therapy, and pharmacological treatments, mainly selective serotonin reuptake inhibitors (SSRIs).",精神及び行動の障害,,,,,,"ジアゼパム [DR:D00293]
 クロルジアゼポキシド [DR:D00267]
 メダゼパム [DR:D01292]
 クロラゼプ酸二カリウム [DR:D00694]
 ロラゼパム [DR:D00365]
 ブロマゼパム [DR:D01245]
 ロフラゼプ酸エチル [DR:D01293]
 クロキサゾラム [DR:D01268]
 メキサゾラム [DR:D01316]
 オキサゾラム [DR:D01278]
 フルトプラゼパム [DR:D01279]
 クロルプロマジン塩酸塩 [DR:D00789]
 クロルプロマジンフェノールフタリン酸塩 [DR:D04034]
 エチゾラム [DR:D01514]
 ヒドロキシジン塩酸塩 [DR:D00672]
 ヒドロキシジンパモ酸塩 [DR:D01096]
 柴朴湯エキス [DR:D06966]
 半夏厚朴湯エキス [DR:D07032]
 茯苓飲合半夏厚朴湯 [DR:D07037]",,"ICD-11: 6B00
 ICD-10: F41.1
 MeSH: D001008","PMID:17174708
 著者        Tyrer P, Baldwin D
 タイトル      Generalised anxiety disorder.
 雑誌        Lancet 368:2156-66 (2006)
 DOI:10.1016/S0140-6736(06)69865-6
 PMID:24326166 (drug)
 著者        Chollet J, Saragoussi D, Clay E, Francois C
 タイトル      A clinical research practice datalink analysis of antidepressant treatment patterns and health care costs in generalized anxiety disorder.
 雑誌        Value Health 16:1133-9 (2013)
 DOI:10.1016/j.jval.2013.09.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01662"">H01662</a>","全般性不安障害;
 不安神経症","Generalized anxiety disorder is a persistent and common mental disorder. This disorder is twice as common in women than it is in men. The symptoms include generalised and persistent excessive anxiety and a combination of various psychological and somatic complaints, such as threat, restlessness, irritability, sleep disturbance, tension, palpitations, dry mouth, and sweating. The symptoms overlap greatly with those of other mental disorders and we could regard the disorder as part of a spectrum of mood and related disorders rather than an independent disorder. Generalized anxiety disorder has a relapsing course, and intervention rarely results in complete resolution of symptoms. But in the short term and medium term, effective treatments include psychological therapies, such as cognitive behavioural therapy, and pharmacological treatments, mainly selective serotonin reuptake inhibitors (SSRIs).",,,,,,"ジアゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00293"">D00293</a>]
 クロルジアゼポキシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00267"">D00267</a>]
 メダゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01292"">D01292</a>]
 クロラゼプ酸二カリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00694"">D00694</a>]
 ロラゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00365"">D00365</a>]
 ブロマゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01245"">D01245</a>]
 ロフラゼプ酸エチル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01293"">D01293</a>]
 クロキサゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01268"">D01268</a>]
 メキサゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01316"">D01316</a>]
 オキサゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01278"">D01278</a>]
 フルトプラゼパム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01279"">D01279</a>]
 クロルプロマジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00789"">D00789</a>]
 クロルプロマジンフェノールフタリン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04034"">D04034</a>]
 エチゾラム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01514"">D01514</a>]
 ヒドロキシジン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00672"">D00672</a>]
 ヒドロキシジンパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01096"">D01096</a>]
 柴朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06966"">D06966</a>]
 半夏厚朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07032"">D07032</a>]
 茯苓飲合半夏厚朴湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07037"">D07037</a>]",,"ICD-11: 6B00
 ICD-10: F41.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001008"">D001008</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17174708"">17174708</a>
 著者        Tyrer P, Baldwin D
 タイトル      Generalised anxiety disorder.
 雑誌        Lancet 368:2156-66 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(06)69865-6"">10.1016/S0140-6736(06)69865-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24326166"">24326166</a> (drug)
 著者        Chollet J, Saragoussi D, Clay E, Francois C
 タイトル      A clinical research practice datalink analysis of antidepressant treatment patterns and health care costs in generalized anxiety disorder.
 雑誌        Value Health 16:1133-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jval.2013.09.001"">10.1016/j.jval.2013.09.001</a>"
H01663,"膿疱性乾癬
 下位グループ    汎発性膿疱性乾癬
 アロポー稽留性肢端皮膚炎
 掌蹠膿疱症",,,"Pustular psoriasis is a form of psoriasis [DS:H01656] characterized by multiple tender sterile pustules with an underlying, blotchy, erythematous base. It has been classified into localized and generalized forms. Generalized pustular psoriasis (GPP) is the development of extensive sterile pustules with widespread erythema. The von Zumbusch type often starts abruptly and can be associated with painful skin, fever, and chills. The disease course varies from a benign, chronic process to an acute life-threatening episode, and as such optimal treatment depends on severity. Diseases considered within the spectrum of GPP include: impetigo herpetiformis and childhood GPP. Acrodermatitis continua of Hallopeau and palmoplantar pustulosis are two distinct forms of localized pustular psoriasis. Treatment should be governed by the extent of involvement and severity of disease. Acitretin, cyclosporine, methotrexate, and infliximab are considered to be first-line therapies for those with GPP. Adalimumab, etanercept, and psoralen plus ultraviolet A are second-line modalities in this setting. Pustular psoriasis in children, in pregnant women, and in localized forms alter which agents are first-line modalities as concerns such as teratogenicity need to be factored into the decisionmaking for the individual patient.",皮膚および結合組織疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 シクロスポリン [DR:D00184]
 ベクロメタゾンプロピオン酸エステル [DR:D00689]
 モメタゾンフランカルボン酸エステル [DR:D00690]
 インフリキシマブ [DR:D02598]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 デキサメタゾンプロピオン酸エステル [DR:D01632]
 デキサメタゾン吉草酸エステル [DR:D01948]
 ヒドロコルチゾン酪酸エステル [DR:D01619]
 酪酸プロピオン酸ヒドロコルチゾン [DR:D01886]
 プレドニゾロン吉草酸エステル酢酸エステル [DR:D03301]
 ベタメタゾン吉草酸エステル [DR:D01357]
 ベタメタゾンジプロピオン酸エステル [DR:D01637]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:D02032]
 フルオシノロンアセトニド [DR:D01825]
 フルオシノニド [DR:D00325]
 アルクロメタゾンプロピオン酸エステル [DR:D01820]
 ジフルコルトロン吉草酸エステル [DR:D01764]
 フルドロキシコルチド [DR:D00328]
 ジフロラゾン酢酸エステル [DR:D01327]
 アムシノニド [DR:D01387]
 ジフルプレドナート [DR:D01266]
 クロベタゾールプロピオン酸エステル [DR:D01272]
 デプロドンプロピオン酸エステル [DR:D01434]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:D04773]
 フラジオマイシン硫酸塩・フルオシノロンアセトニド [DR:D04795]
 ヒドロコルチゾン酢酸エステル・ジフェンヒドラミン塩酸塩・フラジオマイシン硫酸塩 [DR:D04806]
 脱脂大豆乾留タール [DR:D08734]
 サリチル酸 [DR:D00097]
 タカルシトール水和物 [DR:D01472]
 マキサカルシトール [DR:D01098]
 エトレチナート [DR:D00316]
 メトトレキサート [DR:D00142]
 アダリムマブ [DR:D02597]
 セルトリズマブペゴル [DR:D03441]
 セクキヌマブ [DR:D09967]
 ブロダルマブ [DR:D10061]
 イキセキズマブ [DR:D10071]
 グセルクマブ [DR:D10438]
 リサンキズマブ [DR:D11052]
 ビメキズマブ [DR:D11550]",,"ICD-11: EA90.4
 ICD-10: L40.1 L40.3
 MeSH: D011565","PMID:22609220 (description, drug)
 著者        Robinson A, Van Voorhees AS, Hsu S, Korman NJ, Lebwohl MG, Bebo BF Jr, Kalb RE
 タイトル      Treatment of pustular psoriasis: from the Medical Board of the National Psoriasis Foundation.
 雑誌        J Am Acad Dermatol 67:279-88 (2012)
 DOI:10.1016/j.jaad.2011.01.032
 PMID:24434359
 著者        Raychaudhuri SK, Maverakis E, Raychaudhuri SP
 タイトル      Diagnosis and classification of psoriasis.
 雑誌        Autoimmun Rev 13:490-5 (2014)
 DOI:10.1016/j.autrev.2014.01.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01663"">H01663</a>","膿疱性乾癬
 下位グループ    汎発性膿疱性乾癬
 アロポー稽留性肢端皮膚炎
 掌蹠膿疱症","Pustular psoriasis is a form of psoriasis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01656"">H01656</a>] characterized by multiple tender sterile pustules with an underlying, blotchy, erythematous base. It has been classified into localized and generalized forms. Generalized pustular psoriasis (GPP) is the development of extensive sterile pustules with widespread erythema. The von Zumbusch type often starts abruptly and can be associated with painful skin, fever, and chills. The disease course varies from a benign, chronic process to an acute life-threatening episode, and as such optimal treatment depends on severity. Diseases considered within the spectrum of GPP include: impetigo herpetiformis and childhood GPP. Acrodermatitis continua of Hallopeau and palmoplantar pustulosis are two distinct forms of localized pustular psoriasis. Treatment should be governed by the extent of involvement and severity of disease. Acitretin, cyclosporine, methotrexate, and infliximab are considered to be first-line therapies for those with GPP. Adalimumab, etanercept, and psoralen plus ultraviolet A are second-line modalities in this setting. Pustular psoriasis in children, in pregnant women, and in localized forms alter which agents are first-line modalities as concerns such as teratogenicity need to be factored into the decisionmaking for the individual patient.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 ベクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00689"">D00689</a>]
 モメタゾンフランカルボン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00690"">D00690</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 デキサメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01632"">D01632</a>]
 デキサメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01948"">D01948</a>]
 ヒドロコルチゾン酪酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01619"">D01619</a>]
 酪酸プロピオン酸ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01886"">D01886</a>]
 プレドニゾロン吉草酸エステル酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03301"">D03301</a>]
 ベタメタゾン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01357"">D01357</a>]
 ベタメタゾンジプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01637"">D01637</a>]
 ベタメタゾン酪酸エステルプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02032"">D02032</a>]
 フルオシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01825"">D01825</a>]
 フルオシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00325"">D00325</a>]
 アルクロメタゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01820"">D01820</a>]
 ジフルコルトロン吉草酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01764"">D01764</a>]
 フルドロキシコルチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00328"">D00328</a>]
 ジフロラゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01327"">D01327</a>]
 アムシノニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01387"">D01387</a>]
 ジフルプレドナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01266"">D01266</a>]
 クロベタゾールプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01272"">D01272</a>]
 デプロドンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01434"">D01434</a>]
 ベタメタゾン吉草酸エステル・ゲンタマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04773"">D04773</a>]
 フラジオマイシン硫酸塩・フルオシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04795"">D04795</a>]
 ヒドロコルチゾン酢酸エステル・ジフェンヒドラミン塩酸塩・フラジオマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04806"">D04806</a>]
 脱脂大豆乾留タール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08734"">D08734</a>]
 サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 タカルシトール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01472"">D01472</a>]
 マキサカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01098"">D01098</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 セルトリズマブペゴル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03441"">D03441</a>]
 セクキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09967"">D09967</a>]
 ブロダルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10061"">D10061</a>]
 イキセキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10071"">D10071</a>]
 グセルクマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10438"">D10438</a>]
 リサンキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11052"">D11052</a>]
 ビメキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11550"">D11550</a>]",,"ICD-11: EA90.4
 ICD-10: L40.1 L40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011565"">D011565</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22609220"">22609220</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Robinson A, Van Voorhees AS, Hsu S, Korman NJ, Lebwohl MG, Bebo BF Jr, Kalb RE
 タイトル      Treatment of pustular psoriasis: from the Medical Board of the National Psoriasis Foundation.
 雑誌        J Am Acad Dermatol 67:279-88 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2011.01.032"">10.1016/j.jaad.2011.01.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24434359"">24434359</a>
 著者        Raychaudhuri SK, Maverakis E, Raychaudhuri SP
 タイトル      Diagnosis and classification of psoriasis.
 雑誌        Autoimmun Rev 13:490-5 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.01.008"">10.1016/j.autrev.2014.01.008</a>"
H01664,パニック障害,,,"Panic disorder (PD) is a common type of anxiety disorder, characterized by unexpected and repeated panic attacks or fear of future panic attacks. It has a rapid onset and includes symptoms such as palpitations, chest pain, sweating and shaking. Some physical illnesses (e.g. asthma) commonly occur with panic disorder, and certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear. In recent years, an association was found between panic symptoms and increased activity in the right frontal region of the brain. Genetic susceptibility factors also exist, but their exact nature and pathophysiological mechanisms remain unknown. Cognitive behavioural therapy (CBT) and several medications, including selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), tricyclic antidepressants (TCAs) and benzodiazepines are effective for PD. Among these, SSRIs and SNRIs are considered to be first-line treatment agents because of their efficacy and favorable side effect profile.",精神及び行動の障害,,,,"Nicotine [CPD:C00745]
 Caffeine [CPD:C07481]",,"パロキセチン塩酸塩水和物 [DR:D02260]
 セルトラリン塩酸塩 [DR:D00825]",,"ICD-11: 6B01
 ICD-10: F41.0
 MeSH: D016584
 OMIM: 167870","PMID:16980119
 著者        Roy-Byrne PP, Craske MG, Stein MB
 タイトル      Panic disorder.
 雑誌        Lancet 368:1023-32 (2006)
 DOI:10.1016/S0140-6736(06)69418-X
 PMID:25230088
 著者        Li H, Wang J, Li C, Xiao Z
 タイトル      Repetitive transcranial magnetic stimulation (rTMS) for panic disorder in adults.
 雑誌        Cochrane Database Syst Rev CD009083 (2014)
 DOI:10.1002/14651858.CD009083.pub2
 PMID:27089322 (drug)
 著者        Giampaolo P, Alessandra A, Raffaele B, Elisa M, Giuseppina D, Paolo C, Maria N, Daniela C
 タイトル      Is There Room for Second-Generation Antipsychotics in the Pharmacotherapy of Panic Disorder? A Systematic Review Based on PRISMA Guidelines.
 雑誌        Int J Mol Sci 17:551 (2016)
 DOI:10.3390/ijms17040551","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01664"">H01664</a>",パニック障害,"Panic disorder (PD) is a common type of anxiety disorder, characterized by unexpected and repeated panic attacks or fear of future panic attacks. It has a rapid onset and includes symptoms such as palpitations, chest pain, sweating and shaking. Some physical illnesses (e.g. asthma) commonly occur with panic disorder, and certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear. In recent years, an association was found between panic symptoms and increased activity in the right frontal region of the brain. Genetic susceptibility factors also exist, but their exact nature and pathophysiological mechanisms remain unknown. Cognitive behavioural therapy (CBT) and several medications, including selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), tricyclic antidepressants (TCAs) and benzodiazepines are effective for PD. Among these, SSRIs and SNRIs are considered to be first-line treatment agents because of their efficacy and favorable side effect profile.",,,,"Nicotine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00745"">C00745</a>]
 Caffeine [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07481"">C07481</a>]",,"パロキセチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02260"">D02260</a>]
 セルトラリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00825"">D00825</a>]",,"ICD-11: 6B01
 ICD-10: F41.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016584"">D016584</a>
 OMIM: <a href=""https://www.omim.org/entry/167870"">167870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16980119"">16980119</a>
 著者        Roy-Byrne PP, Craske MG, Stein MB
 タイトル      Panic disorder.
 雑誌        Lancet 368:1023-32 (2006)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(06)69418-X"">10.1016/S0140-6736(06)69418-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25230088"">25230088</a>
 著者        Li H, Wang J, Li C, Xiao Z
 タイトル      Repetitive transcranial magnetic stimulation (rTMS) for panic disorder in adults.
 雑誌        Cochrane Database Syst Rev CD009083 (2014)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD009083.pub2"">10.1002/14651858.CD009083.pub2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27089322"">27089322</a> (drug)
 著者        Giampaolo P, Alessandra A, Raffaele B, Elisa M, Giuseppina D, Paolo C, Maria N, Daniela C
 タイトル      Is There Room for Second-Generation Antipsychotics in the Pharmacotherapy of Panic Disorder? A Systematic Review Based on PRISMA Guidelines.
 雑誌        Int J Mol Sci 17:551 (2016)
 DOI:<a href=""https://doi.org/10.3390/ijms17040551"">10.3390/ijms17040551</a>"
H01665,原発性腹膜癌,,,"Female primary peritoneal carcinoma (PPC) has the characteristic of diffuse involvement of the peritoneum by papillary carcinoma in the absence of an obvious primary site and grossly normal ovaries, or minimal involvement. It is histologically indistinguishable from primary epithelial ovarian carcinoma (EOC) and is diagnosed in the absence of another identifiable primary. Most reported PPC cases are primary peritoneal serous papillary carcinoma (PPSPC), while peritoneal mixed epithelial carcinoma (MEC) and malignant mixed Mullerian tumor (MMMT) are rarely reported. Germline BRCA1 mutations in 26% of PPSPC patients was detected. BRCA1 mutation carriers had a higher overall incidence of p53 mutations than wildtype BRCA1 case subjects. It is suggested that p53 has a unique role in the development and progression of BRCA1-related PPSPC.",がん,,BRCA1 (mutation) [HSA:672] [KO:K10605],,,,,,"ICD-11: 2C51
 ICD-10: C48.1
 MeSH: D010534","PMID:11014956
 著者        Cormio G, Di Vagno G, Di Gesu G, Mastroianni M, Melilli GA, Vimercati A, Putignano G, Loverro G, Selvaggi L
 タイトル      Primary peritoneal carcinoma: a report of twelve cases and a review of the literature.
 雑誌        Gynecol Obstet Invest 50:203-6 (2000)
 DOI:10.1159/000010311
 PMID:19897383
 著者        Pentheroudakis G, Pavlidis N
 タイトル      Serous papillary peritoneal carcinoma: unknown primary tumour, ovarian cancer counterpart or a distinct entity? A systematic review.
 雑誌        Crit Rev Oncol Hematol 75:27-42 (2010)
 DOI:10.1016/j.critrevonc.2009.10.003
 PMID:10728699
 著者        Schorge JO, Muto MG, Lee SJ, Huang LW, Welch WR, Bell DA, Keung EZ, Berkowitz RS, Mok SC
 タイトル      BRCA1-related papillary serous carcinoma of the peritoneum has a unique molecular pathogenesis.
 雑誌        Cancer Res 60:1361-4 (2000)
 PMID:21352070 (drug)
 著者        Slomovitz BM, Worley MJ, Markman M, Coleman RL
 タイトル      Emerging therapeutics for primary peritoneal cancer.
 雑誌        Expert Opin Emerg Drugs 16:71-84 (2011)
 DOI:10.1517/14728214.2011.526600
 PMID:18543395 (drug, ICD-O-3)
 著者        Zhang C, Li XP, Cui H, Shen DH, Wei LH
 タイトル      Advanced primary peritoneal carcinoma: clinicopathological and prognostic factor analyses.
 雑誌        J Zhejiang Univ Sci B 9:435-40 (2008)
 DOI:10.1631/jzus.B0820051
 PMID:25315029 (drug)
 著者        Keating GM
 タイトル      Bevacizumab: a review of its use in advanced cancer.
 雑誌        Drugs 74:1891-925 (2014)
 DOI:10.1007/s40265-014-0302-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01665"">H01665</a>",原発性腹膜癌,"Female primary peritoneal carcinoma (PPC) has the characteristic of diffuse involvement of the peritoneum by papillary carcinoma in the absence of an obvious primary site and grossly normal ovaries, or minimal involvement. It is histologically indistinguishable from primary epithelial ovarian carcinoma (EOC) and is diagnosed in the absence of another identifiable primary. Most reported PPC cases are primary peritoneal serous papillary carcinoma (PPSPC), while peritoneal mixed epithelial carcinoma (MEC) and malignant mixed Mullerian tumor (MMMT) are rarely reported. Germline BRCA1 mutations in 26% of PPSPC patients was detected. BRCA1 mutation carriers had a higher overall incidence of p53 mutations than wildtype BRCA1 case subjects. It is suggested that p53 has a unique role in the development and progression of BRCA1-related PPSPC.",,"BRCA1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]",,,,,,"ICD-11: 2C51
 ICD-10: C48.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010534"">D010534</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11014956"">11014956</a>
 著者        Cormio G, Di Vagno G, Di Gesu G, Mastroianni M, Melilli GA, Vimercati A, Putignano G, Loverro G, Selvaggi L
 タイトル      Primary peritoneal carcinoma: a report of twelve cases and a review of the literature.
 雑誌        Gynecol Obstet Invest 50:203-6 (2000)
 DOI:<a href=""https://doi.org/10.1159/000010311"">10.1159/000010311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19897383"">19897383</a>
 著者        Pentheroudakis G, Pavlidis N
 タイトル      Serous papillary peritoneal carcinoma: unknown primary tumour, ovarian cancer counterpart or a distinct entity? A systematic review.
 雑誌        Crit Rev Oncol Hematol 75:27-42 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2009.10.003"">10.1016/j.critrevonc.2009.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10728699"">10728699</a>
 著者        Schorge JO, Muto MG, Lee SJ, Huang LW, Welch WR, Bell DA, Keung EZ, Berkowitz RS, Mok SC
 タイトル      BRCA1-related papillary serous carcinoma of the peritoneum has a unique molecular pathogenesis.
 雑誌        Cancer Res 60:1361-4 (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21352070"">21352070</a> (drug)
 著者        Slomovitz BM, Worley MJ, Markman M, Coleman RL
 タイトル      Emerging therapeutics for primary peritoneal cancer.
 雑誌        Expert Opin Emerg Drugs 16:71-84 (2011)
 DOI:<a href=""https://doi.org/10.1517/14728214.2011.526600"">10.1517/14728214.2011.526600</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18543395"">18543395</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/ICD-O-3)"">ICD-O-3)</a>
 著者        Zhang C, Li XP, Cui H, Shen DH, Wei LH
 タイトル      Advanced primary peritoneal carcinoma: clinicopathological and prognostic factor analyses.
 雑誌        J Zhejiang Univ Sci B 9:435-40 (2008)
 DOI:<a href=""https://doi.org/10.1631/jzus.B0820051"">10.1631/jzus.B0820051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25315029"">25315029</a> (drug)
 著者        Keating GM
 タイトル      Bevacizumab: a review of its use in advanced cancer.
 雑誌        Drugs 74:1891-925 (2014)
 DOI:<a href=""https://doi.org/10.1007/s40265-014-0302-9"">10.1007/s40265-014-0302-9</a>"
H01666,"血管肉腫
 上位グループ    固形腫瘍 [DS:H02421]
 軟部肉腫 [DS:H02427]",,,"Angiosarcomas are rare, generally aggressive, malignant mesenchymal tumours of vascular origin and constitute less than 1% of all sarcomas. Their most frequent site of origin is the head and neck, especially the scalp, of elderly men. Angiosarcomas are likely derived from vascular endothelial cells, possibly resulting from aberrant angiogenesis. Studies have shown relatively increased expression of vascular endothelial growth factor (VEGF) and its receptors (VEGFr1-3) in human angiosarcoma. The most common gene mutation in angiosarcomas is KRAS as well as other RAS mutations. Activation of the RAS pathway is often tumorigenic. Although immortalised murine endothelial cells form benign haemangiomas in vivo, the addition of activated HRAS produces rapidly growing, poorly differentiated angiosarcomas.",がん,,"KRAS (mutation) [HSA:3845] [KO:K07827]
 HRAS (mutation) [HSA:3265] [KO:K02833]
 NRAS (mutation) [HSA:4893] [KO:K07828]",,,"Vinyl chloride [CPD:C06793]
 Thorium dioxide
 Arsenic [CPD:C06269]
 Anabolic steroids","ビンクリスチン硫酸塩 [DR:D02197]
 パクリタキセル [DR:D00491]
 テセロイキン [DR:D02749]",,"ICD-11: 2B56
 ICD-10: C44.9 C22.3
 MeSH: D006394","PMID:11251578 (drug)
 著者        Tanioka M, Ikoma A, Morita K, Fujii H, Toda KI, Takahashi K, Tanaka T, Nishigori C, Jin G, Higashi S, Toyokuni S, Miyachi Y
 タイトル      Angiosarcoma of the scalp: absence of vascular endothelial cadherin in primary and metastatic lesions.
 雑誌        Br J Dermatol 144:380-3 (2001)
 DOI:10.1046/j.1365-2133.2001.04032.x
 PMID:24685486 (drug)
 著者        Letsa I, Benson C, Al-Muderis O, Judson I
 タイトル      Angiosarcoma of the face and scalp: effective systemic treatment in the older patient.
 雑誌        J Geriatr Oncol 5:276-80 (2014)
 DOI:10.1016/j.jgo.2014.02.004
 PMID:25634014 (carcinogen)
 著者        Patel SH, Hayden RE, Hinni ML, Wong WW, Foote RL, Milani S, Wu Q, Ko SJ, Halyard MY
 タイトル      Angiosarcoma of the scalp and face: the Mayo Clinic experience.
 雑誌        JAMA Otolaryngol Head Neck Surg 141:335-40 (2015)
 DOI:10.1001/jamaoto.2014.3584
 PMID:20537949 (gene, marker, carcinogen)
 著者        Young RJ, Brown NJ, Reed MW, Hughes D, Woll PJ
 タイトル      Angiosarcoma.
 雑誌        Lancet Oncol 11:983-91 (2010)
 DOI:10.1016/S1470-2045(10)70023-1
 PMID:26031299
 著者        Huntington JT, Jones C, Liebner DA, Chen JL, Pollock RE
 タイトル      Angiosarcoma: A rare malignancy with protean clinical presentations.
 雑誌        J Surg Oncol 111:941-50 (2015)
 DOI:10.1002/jso.23918
 PMID:24384851 (marker)
 著者        Antonescu C
 タイトル      Malignant vascular tumors--an update.
 雑誌        Mod Pathol 27 Suppl 1:S30-8 (2014)
 DOI:10.1038/modpathol.2013.176
 PMID:25352641 (marker)
 著者        Sullivan HC, Edgar MA, Cohen C, Kovach CK, HooKim K, Reid MD
 タイトル      The utility of ERG, CD31 and CD34 in the cytological diagnosis of angiosarcoma: an analysis of 25 cases.
 雑誌        J Clin Pathol 68:44-50 (2015)
 DOI:10.1136/jclinpath-2014-202629
 PMID:15817349 (drug)
 著者        Ohguri T, Imada H, Nomoto S, Yahara K, Hisaoka M, Hashimoto H, Tokura Y, Nakamura K, Shioyama Y, Honda H, Terashima H, Moroi Y, Furue M, Korogi Y
 タイトル      Angiosarcoma of the scalp treated with curative radiotherapy plus recombinant interleukin-2 immunotherapy.
 雑誌        Int J Radiat Oncol Biol Phys 61:1446-53 (2005)
 DOI:10.1016/j.ijrobp.2004.08.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01666"">H01666</a>","血管肉腫
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>]","Angiosarcomas are rare, generally aggressive, malignant mesenchymal tumours of vascular origin and constitute less than 1% of all sarcomas. Their most frequent site of origin is the head and neck, especially the scalp, of elderly men. Angiosarcomas are likely derived from vascular endothelial cells, possibly resulting from aberrant angiogenesis. Studies have shown relatively increased expression of vascular endothelial growth factor (VEGF) and its receptors (VEGFr1-3) in human angiosarcoma. The most common gene mutation in angiosarcomas is KRAS as well as other RAS mutations. Activation of the RAS pathway is often tumorigenic. Although immortalised murine endothelial cells form benign haemangiomas in vivo, the addition of activated HRAS produces rapidly growing, poorly differentiated angiosarcomas.",,"KRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 HRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]
 NRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]",,,"Vinyl chloride [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06793"">C06793</a>]
 Thorium dioxide
 Arsenic [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06269"">C06269</a>]
 Anabolic steroids","ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 テセロイキン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02749"">D02749</a>]",,"ICD-11: 2B56
 ICD-10: C44.9 C22.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006394"">D006394</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11251578"">11251578</a> (drug)
 著者        Tanioka M, Ikoma A, Morita K, Fujii H, Toda KI, Takahashi K, Tanaka T, Nishigori C, Jin G, Higashi S, Toyokuni S, Miyachi Y
 タイトル      Angiosarcoma of the scalp: absence of vascular endothelial cadherin in primary and metastatic lesions.
 雑誌        Br J Dermatol 144:380-3 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2133.2001.04032.x"">10.1046/j.1365-2133.2001.04032.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24685486"">24685486</a> (drug)
 著者        Letsa I, Benson C, Al-Muderis O, Judson I
 タイトル      Angiosarcoma of the face and scalp: effective systemic treatment in the older patient.
 雑誌        J Geriatr Oncol 5:276-80 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jgo.2014.02.004"">10.1016/j.jgo.2014.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25634014"">25634014</a> (carcinogen)
 著者        Patel SH, Hayden RE, Hinni ML, Wong WW, Foote RL, Milani S, Wu Q, Ko SJ, Halyard MY
 タイトル      Angiosarcoma of the scalp and face: the Mayo Clinic experience.
 雑誌        JAMA Otolaryngol Head Neck Surg 141:335-40 (2015)
 DOI:<a href=""https://doi.org/10.1001/jamaoto.2014.3584"">10.1001/jamaoto.2014.3584</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20537949"">20537949</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker,"">marker,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/carcinogen)"">carcinogen)</a>
 著者        Young RJ, Brown NJ, Reed MW, Hughes D, Woll PJ
 タイトル      Angiosarcoma.
 雑誌        Lancet Oncol 11:983-91 (2010)
 DOI:<a href=""https://doi.org/10.1016/S1470-2045(10)70023-1"">10.1016/S1470-2045(10)70023-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26031299"">26031299</a>
 著者        Huntington JT, Jones C, Liebner DA, Chen JL, Pollock RE
 タイトル      Angiosarcoma: A rare malignancy with protean clinical presentations.
 雑誌        J Surg Oncol 111:941-50 (2015)
 DOI:<a href=""https://doi.org/10.1002/jso.23918"">10.1002/jso.23918</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24384851"">24384851</a> (marker)
 著者        Antonescu C
 タイトル      Malignant vascular tumors--an update.
 雑誌        Mod Pathol 27 Suppl 1:S30-8 (2014)
 DOI:<a href=""https://doi.org/10.1038/modpathol.2013.176"">10.1038/modpathol.2013.176</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25352641"">25352641</a> (marker)
 著者        Sullivan HC, Edgar MA, Cohen C, Kovach CK, HooKim K, Reid MD
 タイトル      The utility of ERG, CD31 and CD34 in the cytological diagnosis of angiosarcoma: an analysis of 25 cases.
 雑誌        J Clin Pathol 68:44-50 (2015)
 DOI:<a href=""https://doi.org/10.1136/jclinpath-2014-202629"">10.1136/jclinpath-2014-202629</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15817349"">15817349</a> (drug)
 著者        Ohguri T, Imada H, Nomoto S, Yahara K, Hisaoka M, Hashimoto H, Tokura Y, Nakamura K, Shioyama Y, Honda H, Terashima H, Moroi Y, Furue M, Korogi Y
 タイトル      Angiosarcoma of the scalp treated with curative radiotherapy plus recombinant interleukin-2 immunotherapy.
 雑誌        Int J Radiat Oncol Biol Phys 61:1446-53 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ijrobp.2004.08.008"">10.1016/j.ijrobp.2004.08.008</a>"
H01667,髄芽腫,,,"Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.",がん,,"PTCH1 [HSA:5727] [KO:K06225]
 PTCH2 [HSA:8643] [KO:K11101]
 ELP1 [HSA:8518] [KO:K11373]
 SUFU [HSA:51684] [KO:K06229]
 SMO [HSA:6608] [KO:K06226]
 AXIN1 [HSA:8312] [KO:K02157]
 AXIN2 [HSA:8313] [KO:K04385]
 APC [HSA:324 10297] [KO:K02085]
 CTNNB1 [HSA:1499] [KO:K02105]
 TP53 [HSA:7157] [KO:K04451]
 NF2 [HSA:4771] [KO:K16684]
 MEN1 [HSA:4221] [KO:K14970]
 KDM6A [HSA:7403] [KO:K11447]
 MYC (amplification) [HSA:4609] [KO:K04377]
 OTX2 (amplification) [HSA:5015] [KO:K18490]
 TERT (amplification) [HSA:7015] [KO:K11126]
 MDM2 (amplification) [HSA:4193] [KO:K06643]",,,,"シスプラチン [DR:D00275]
 インターフェロンベータ [DR:D03304]",,"ICD-11: 2A00.10
 ICD-10: C71.6
 MeSH: D008527
 OMIM: 155255","PMID:18676356 (GENE)
 著者        de Bont JM, Packer RJ, Michiels EM, den Boer ML, Pieters R
 タイトル      Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective.
 雑誌        Neuro Oncol 10:1040-60 (2008)
 DOI:10.1215/15228517-2008-059
 PMID:26350064
 著者        Skowron P, Ramaswamy V, Taylor MD
 タイトル      Genetic and molecular alterations across medulloblastoma subgroups.
 雑誌        J Mol Med (Berl) 93:1075-84 (2015)
 DOI:10.1007/s00109-015-1333-8
 PMID:25768332
 著者        Gopalakrishnan V, Tao RH, Dobson T, Brugmann W, Khatua S
 タイトル      Medulloblastoma development: tumor biology informs treatment decisions.
 雑誌        CNS Oncol 4:79-89 (2015)
 DOI:10.2217/cns.14.58
 PMID:25348790
 著者        Gajjar AJ, Robinson GW
 タイトル      Medulloblastoma-translating discoveries from the bench to the bedside.
 雑誌        Nat Rev Clin Oncol 11:714-22 (2014)
 DOI:10.1038/nrclinonc.2014.181
 PMID:32296180 (ELP1)
 著者        Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jager N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schuz J, Johansen C, Andersen TV, Roosli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM
 タイトル      Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
 雑誌        Nature 580:396-401 (2020)
 DOI:10.1038/s41586-020-2164-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01667"">H01667</a>",髄芽腫,"Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.",,"PTCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5727"">5727</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06225"">K06225</a>]
 PTCH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8643"">8643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11101"">K11101</a>]
 ELP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8518"">8518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11373"">K11373</a>]
 SUFU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51684"">51684</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06229"">K06229</a>]
 SMO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6608"">6608</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06226"">K06226</a>]
 AXIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8312"">8312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02157"">K02157</a>]
 AXIN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8313"">8313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04385"">K04385</a>]
 APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10297"">10297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 NF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4771"">4771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16684"">K16684</a>]
 MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 KDM6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7403"">7403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11447"">K11447</a>]
 MYC (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 OTX2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5015"">5015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18490"">K18490</a>]
 TERT (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 MDM2 (amplification) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4193"">4193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06643"">K06643</a>]",,,,"シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 インターフェロンベータ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03304"">D03304</a>]",,"ICD-11: 2A00.10
 ICD-10: C71.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008527"">D008527</a>
 OMIM: <a href=""https://www.omim.org/entry/155255"">155255</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18676356"">18676356</a> (GENE)
 著者        de Bont JM, Packer RJ, Michiels EM, den Boer ML, Pieters R
 タイトル      Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective.
 雑誌        Neuro Oncol 10:1040-60 (2008)
 DOI:<a href=""https://doi.org/10.1215/15228517-2008-059"">10.1215/15228517-2008-059</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26350064"">26350064</a>
 著者        Skowron P, Ramaswamy V, Taylor MD
 タイトル      Genetic and molecular alterations across medulloblastoma subgroups.
 雑誌        J Mol Med (Berl) 93:1075-84 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00109-015-1333-8"">10.1007/s00109-015-1333-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25768332"">25768332</a>
 著者        Gopalakrishnan V, Tao RH, Dobson T, Brugmann W, Khatua S
 タイトル      Medulloblastoma development: tumor biology informs treatment decisions.
 雑誌        CNS Oncol 4:79-89 (2015)
 DOI:<a href=""https://doi.org/10.2217/cns.14.58"">10.2217/cns.14.58</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25348790"">25348790</a>
 著者        Gajjar AJ, Robinson GW
 タイトル      Medulloblastoma-translating discoveries from the bench to the bedside.
 雑誌        Nat Rev Clin Oncol 11:714-22 (2014)
 DOI:<a href=""https://doi.org/10.1038/nrclinonc.2014.181"">10.1038/nrclinonc.2014.181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32296180"">32296180</a> (ELP1)
 著者        Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jager N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schuz J, Johansen C, Andersen TV, Roosli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM
 タイトル      Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
 雑誌        Nature 580:396-401 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41586-020-2164-5"">10.1038/s41586-020-2164-5</a>"
H01668,腫瘍性髄膜炎,,,"Neoplastic meningitis (NM) is a diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological malignancies (leukaemic or lymphomatous meningitis), or primary brain tumours. Malignant cells reach the CSF and meninges by direct invasion from tumors located near or within the central nervous system (CNS), or via the bloodstream or other pathways that contact the CNS. The molecular changes responsible for the development of NM are not well delineated, but it is likely that they involve changes in molecules responsible for tumor cell adhesion, migration, and proliferation.",神経系疾患,,,,,,,,"ICD-11: 8E40.0
 ICD-10: G03
 MeSH: D008581","PMID:18776058 (marker, drug)
 著者        Chamberlain MC
 タイトル      Neoplastic meningitis.
 雑誌        Oncologist 13:967-77 (2008)
 DOI:10.1634/theoncologist.2008-0138
 PMID:25031995 (drug)
 著者        Fields MM
 タイトル      How to recognize and treat neoplastic meningitis.
 雑誌        J Adv Pract Oncol 4:155-60 (2013)
 DOI:10.6004/jadpro.2013.4.3.3
 PMID:20645702
 著者        Strik H, Prommel P
 タイトル      Diagnosis and individualized therapy of neoplastic meningitis.
 雑誌        Expert Rev Anticancer Ther 10:1137-48 (2010)
 DOI:10.1586/era.10.86
 PMID:16632315 (marker, drug)
 著者        Gleissner B, Chamberlain MC
 タイトル      Neoplastic meningitis.
 雑誌        Lancet Neurol 5:443-52 (2006)
 DOI:10.1016/S1474-4422(06)70443-4
 PMID:20425607
 著者        Mammoser AG, Groves MD
 タイトル      Biology and therapy of neoplastic meningitis.
 雑誌        Curr Oncol Rep 12:41-9 (2010)
 DOI:10.1007/s11912-009-0079-2
 PMID:12493146
 著者        Groves MD
 タイトル      The pathogenesis of neoplastic meningitis.
 雑誌        Curr Oncol Rep 5:15-23 (2003)
 DOI:10.1007/s11912-003-0082-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01668"">H01668</a>",腫瘍性髄膜炎,"Neoplastic meningitis (NM) is a diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological malignancies (leukaemic or lymphomatous meningitis), or primary brain tumours. Malignant cells reach the CSF and meninges by direct invasion from tumors located near or within the central nervous system (CNS), or via the bloodstream or other pathways that contact the CNS. The molecular changes responsible for the development of NM are not well delineated, but it is likely that they involve changes in molecules responsible for tumor cell adhesion, migration, and proliferation.",,,,,,,,"ICD-11: 8E40.0
 ICD-10: G03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008581"">D008581</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18776058"">18776058</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Chamberlain MC
 タイトル      Neoplastic meningitis.
 雑誌        Oncologist 13:967-77 (2008)
 DOI:<a href=""https://doi.org/10.1634/theoncologist.2008-0138"">10.1634/theoncologist.2008-0138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25031995"">25031995</a> (drug)
 著者        Fields MM
 タイトル      How to recognize and treat neoplastic meningitis.
 雑誌        J Adv Pract Oncol 4:155-60 (2013)
 DOI:<a href=""https://doi.org/10.6004/jadpro.2013.4.3.3"">10.6004/jadpro.2013.4.3.3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20645702"">20645702</a>
 著者        Strik H, Prommel P
 タイトル      Diagnosis and individualized therapy of neoplastic meningitis.
 雑誌        Expert Rev Anticancer Ther 10:1137-48 (2010)
 DOI:<a href=""https://doi.org/10.1586/era.10.86"">10.1586/era.10.86</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16632315"">16632315</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Gleissner B, Chamberlain MC
 タイトル      Neoplastic meningitis.
 雑誌        Lancet Neurol 5:443-52 (2006)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(06)70443-4"">10.1016/S1474-4422(06)70443-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425607"">20425607</a>
 著者        Mammoser AG, Groves MD
 タイトル      Biology and therapy of neoplastic meningitis.
 雑誌        Curr Oncol Rep 12:41-9 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11912-009-0079-2"">10.1007/s11912-009-0079-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12493146"">12493146</a>
 著者        Groves MD
 タイトル      The pathogenesis of neoplastic meningitis.
 雑誌        Curr Oncol Rep 5:15-23 (2003)
 DOI:<a href=""https://doi.org/10.1007/s11912-003-0082-y"">10.1007/s11912-003-0082-y</a>"
H01669,"二次性副甲状腺機能亢進症;
 続発性副甲状腺機能亢進症",,,"Secondary hyperparathyroidism (SHPT) is a chronic and progressive disorder characterized by elevated serum parathyroid hormone (PTH), parathyroid gland hyperplasia, and disturbances in mineral metabolism, mainly calcium and phosphorus. SHPT is generally caused by diffuse parathyroid hyperplasia in response to prolonged reduced levels of extracellular calcium from various secondary aetiologies. Although it is initially and adaptive response to a variety of stimuli resulting mainly in extracellular hypocalcaemia (vitamin D deficiency, chronic kidney disease, idiopathic hypercalciuria, calcium malabsorption), long-standing SHPT may eventually develop into autonomous HPT (ie, tertiary HPT). Because SHPT is a compensatory mechanism of the parathyroid glands, it commonly resolves with normalization of calcium and phosphorus homeostasis. After excluding reversible secondary aetiologies, first-line treatment of irreversible SHPT (often related to chronic kidney disease) mainly involves medical therapies.",内分泌系疾患,,,,,,"マキサカルシトール [DR:D01098]
 カルシトリオール [DR:D00129]
 ファレカルシトリオール [DR:D01662]
 シナカルセト塩酸塩 [DR:D03505]
 エテルカルセチド塩酸塩 [DR:D10677]
 エボカルセト [DR:D11063]
 ウパシカルセトナトリウム水和物 [DR:D11564]",,"ICD-11: 5A51.1
 ICD-10: E21.1
 MeSH: D006962","PMID:25702624
 著者        Cozzolino M, Tomlinson J, Walsh L, Bellasi A
 タイトル      Emerging drugs for secondary hyperparathyroidism.
 雑誌        Expert Opin Emerg Drugs 20:197-208 (2015)
 DOI:10.1517/14728214.2015.1018177
 PMID:26163537
 著者        Duan K, Gomez Hernandez K, Mete O
 タイトル      Clinicopathological correlates of hyperparathyroidism.
 雑誌        J Clin Pathol 68:771-87 (2015)
 DOI:10.1136/jclinpath-2015-203186
 PMID:27479950 (description, drug)
 著者        Yuen NK, Ananthakrishnan S, Campbell MJ
 タイトル      Hyperparathyroidism of Renal Disease.
 雑誌        Perm J 20:78-83 (2016)
 DOI:10.7812/TPP/15-127
 PMID:28277829 (drug)
 著者        Hamano N, Komaba H, Fukagawa M
 タイトル      Etelcalcetide for the treatment of secondary hyperparathyroidism.
 雑誌        Expert Opin Pharmacother 18:529-534 (2017)
 DOI:10.1080/14656566.2017.1303482
 PMID:9708607 (drug)
 著者        Akiba T, Marumo F, Owada A, Kurihara S, Inoue A, Chida Y, Ando R, Shinoda T, Ishida Y, Ohashi Y
 タイトル      Controlled trial of falecalcitriol versus alfacalcidol in suppression of parathyroid hormone in hemodialysis patients with secondary hyperparathyroidism.
 雑誌        Am J Kidney Dis 32:238-46 (1998)
 DOI:10.1053/ajkd.1998.v32.pm9708607","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01669"">H01669</a>","二次性副甲状腺機能亢進症;
 続発性副甲状腺機能亢進症","Secondary hyperparathyroidism (SHPT) is a chronic and progressive disorder characterized by elevated serum parathyroid hormone (PTH), parathyroid gland hyperplasia, and disturbances in mineral metabolism, mainly calcium and phosphorus. SHPT is generally caused by diffuse parathyroid hyperplasia in response to prolonged reduced levels of extracellular calcium from various secondary aetiologies. Although it is initially and adaptive response to a variety of stimuli resulting mainly in extracellular hypocalcaemia (vitamin D deficiency, chronic kidney disease, idiopathic hypercalciuria, calcium malabsorption), long-standing SHPT may eventually develop into autonomous HPT (ie, tertiary HPT). Because SHPT is a compensatory mechanism of the parathyroid glands, it commonly resolves with normalization of calcium and phosphorus homeostasis. After excluding reversible secondary aetiologies, first-line treatment of irreversible SHPT (often related to chronic kidney disease) mainly involves medical therapies.",,,,,,"マキサカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01098"">D01098</a>]
 カルシトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00129"">D00129</a>]
 ファレカルシトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01662"">D01662</a>]
 シナカルセト塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03505"">D03505</a>]
 エテルカルセチド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10677"">D10677</a>]
 エボカルセト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11063"">D11063</a>]
 ウパシカルセトナトリウム水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11564"">D11564</a>]",,"ICD-11: 5A51.1
 ICD-10: E21.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006962"">D006962</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25702624"">25702624</a>
 著者        Cozzolino M, Tomlinson J, Walsh L, Bellasi A
 タイトル      Emerging drugs for secondary hyperparathyroidism.
 雑誌        Expert Opin Emerg Drugs 20:197-208 (2015)
 DOI:<a href=""https://doi.org/10.1517/14728214.2015.1018177"">10.1517/14728214.2015.1018177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26163537"">26163537</a>
 著者        Duan K, Gomez Hernandez K, Mete O
 タイトル      Clinicopathological correlates of hyperparathyroidism.
 雑誌        J Clin Pathol 68:771-87 (2015)
 DOI:<a href=""https://doi.org/10.1136/jclinpath-2015-203186"">10.1136/jclinpath-2015-203186</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27479950"">27479950</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Yuen NK, Ananthakrishnan S, Campbell MJ
 タイトル      Hyperparathyroidism of Renal Disease.
 雑誌        Perm J 20:78-83 (2016)
 DOI:<a href=""https://doi.org/10.7812/TPP/15-127"">10.7812/TPP/15-127</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28277829"">28277829</a> (drug)
 著者        Hamano N, Komaba H, Fukagawa M
 タイトル      Etelcalcetide for the treatment of secondary hyperparathyroidism.
 雑誌        Expert Opin Pharmacother 18:529-534 (2017)
 DOI:<a href=""https://doi.org/10.1080/14656566.2017.1303482"">10.1080/14656566.2017.1303482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9708607"">9708607</a> (drug)
 著者        Akiba T, Marumo F, Owada A, Kurihara S, Inoue A, Chida Y, Ando R, Shinoda T, Ishida Y, Ohashi Y
 タイトル      Controlled trial of falecalcitriol versus alfacalcidol in suppression of parathyroid hormone in hemodialysis patients with secondary hyperparathyroidism.
 雑誌        Am J Kidney Dis 32:238-46 (1998)
 DOI:<a href=""https://doi.org/10.1053/ajkd.1998.v32.pm9708607"">10.1053/ajkd.1998.v32.pm9708607</a>"
H01670,社会不安障害,,,"Social anxiety disorder (SAD) is the most common anxiety disorder. SAD is generally considered a chronic disorder and has its onset during early adolescence. It is a risk factor for subsequent depressive illness and substance abuse. Patients with SAD have an extreme fear of being negatively evaluated in social situations and, as a result, avoid social events or endure them with excessive fear or anxiety. Although the etiology of SAD is not yet fully established, twin and family studies suggest that SAD is heritable. Functional neuroimaging studies point to increased activity in amygdala and insula in patients with social anxiety disorder. In addition, there is evidence from various studies, that the serotonin, and dopamine neurotransmitter systems mediate the symptoms of SAD. A range of effective cognitive behavioural and pharmacological treatments now exists. However, they don't work for the 30-40% of patients.",精神及び行動の障害,,,,,,"パロキセチン塩酸塩水和物 [DR:D02260]
 フルボキサミンマレイン酸塩 [DR:D00824]
 エスシタロプラムシュウ酸塩 [DR:D02567]",,"ICD-11: 6B04
 ICD-10: F40.1 F93.2
 MeSH: D010698","PMID:18374843 (description, drug)
 著者        Stein MB, Stein DJ
 タイトル      Social anxiety disorder.
 雑誌        Lancet 371:1115-25 (2008)
 DOI:10.1016/S0140-6736(08)60488-2
 PMID:27593443
 著者        Bas-Hoogendam JM, Blackford JU, Bruhl AB, Blair KS, van der Wee NJA, Westenberg PM
 タイトル      Neurobiological candidate endophenotypes of social anxiety disorder.
 雑誌        Neurosci Biobehav Rev 71:362-378 (2016)
 DOI:10.1016/j.neubiorev.2016.08.040
 PMID:16899354
 著者        Lochner C, Hemmings S, Seedat S, Kinnear C, Schoeman R, Annerbrink K, Olsson M, Eriksson E, Moolman-Smook J, Allgulander C, Stein DJ
 タイトル      Genetics and personality traits in patients with social anxiety disorder: a case-control study in South Africa.
 雑誌        Eur Neuropsychopharmacol 17:321-7 (2007)
 DOI:10.1016/j.euroneuro.2006.06.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01670"">H01670</a>",社会不安障害,"Social anxiety disorder (SAD) is the most common anxiety disorder. SAD is generally considered a chronic disorder and has its onset during early adolescence. It is a risk factor for subsequent depressive illness and substance abuse. Patients with SAD have an extreme fear of being negatively evaluated in social situations and, as a result, avoid social events or endure them with excessive fear or anxiety. Although the etiology of SAD is not yet fully established, twin and family studies suggest that SAD is heritable. Functional neuroimaging studies point to increased activity in amygdala and insula in patients with social anxiety disorder. In addition, there is evidence from various studies, that the serotonin, and dopamine neurotransmitter systems mediate the symptoms of SAD. A range of effective cognitive behavioural and pharmacological treatments now exists. However, they don't work for the 30-40% of patients.",,,,,,"パロキセチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02260"">D02260</a>]
 フルボキサミンマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00824"">D00824</a>]
 エスシタロプラムシュウ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02567"">D02567</a>]",,"ICD-11: 6B04
 ICD-10: F40.1 F93.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010698"">D010698</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18374843"">18374843</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Stein MB, Stein DJ
 タイトル      Social anxiety disorder.
 雑誌        Lancet 371:1115-25 (2008)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(08)60488-2"">10.1016/S0140-6736(08)60488-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27593443"">27593443</a>
 著者        Bas-Hoogendam JM, Blackford JU, Bruhl AB, Blair KS, van der Wee NJA, Westenberg PM
 タイトル      Neurobiological candidate endophenotypes of social anxiety disorder.
 雑誌        Neurosci Biobehav Rev 71:362-378 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.neubiorev.2016.08.040"">10.1016/j.neubiorev.2016.08.040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16899354"">16899354</a>
 著者        Lochner C, Hemmings S, Seedat S, Kinnear C, Schoeman R, Annerbrink K, Olsson M, Eriksson E, Moolman-Smook J, Allgulander C, Stein DJ
 タイトル      Genetics and personality traits in patients with social anxiety disorder: a case-control study in South Africa.
 雑誌        Eur Neuropsychopharmacol 17:321-7 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.euroneuro.2006.06.010"">10.1016/j.euroneuro.2006.06.010</a>"
H01671,"神経症;
 ノイローゼ",,,"Neurosis is a class of functional mental disorders involving distress but neither delusions nor hallucinations, whereby behavior is not outside socially acceptable norms. The state of research on neurosis has moved towards looking at biological and genetic substrates or mechanisms underlying neurosis. The recent literature shows acceptance of common mental disorders such as Generalized anxiety disorder (GAD), Panic disorder (PD), and Obsessive-compulsive disorder (OCD), across cultures replacing neurotic disorder. Usage of the diagnosis of neurosis has been decreased, and replaced by newer categories in the current popular classificatory systems. In the International Classification of Diseases (ICD-10), all disorders regarded as neurosis remained together but under the division of rubric 'neurotic, stress-related and somatoform disorders'. In the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), neurosis has been eliminated as a category.",精神及び行動の障害,,DRD4 (polymorphism) [HSA:1815] [KO:K04147],,,,"温経湯 [DR:D06919]
 温清飲エキス [DR:D06920]
 黄連解毒湯エキス [DR:D06924]
 加味帰脾湯エキス [DR:D06929]
 甘麦大棗湯 [DR:D06931]
 芎帰調血飲 [DR:D06936]
 柴胡加竜骨牡蛎湯 [DR:D06962]
 柴胡桂枝乾姜湯 [DR:D06963]
 柴胡清肝湯 [DR:D06965]
 大柴胡湯エキス [DR:D07004]
 大承気湯 [DR:D07006]
 女神散 [DR:D07026]
 半夏厚朴湯エキス [DR:D07032]
 半夏瀉心湯エキス [DR:D07033]
 抑肝散エキス [DR:D07049]
 抑肝散加陳皮半夏 [DR:D07050]","See also H01662 Generalized anxiety disorder, H01664 Panic disorder, H01670 Social anxiety disorder, and H01453 Obsessive-Compulsive and Related Disorder (OCRD).","ICD-10: F48
 MeSH: D009497","PMID:17143082
 著者        Chaturvedi SK, Bhugra D
 タイトル      The concept of neurosis in a cross-cultural perspective.
 雑誌        Curr Opin Psychiatry 20:47-51 (2007)
 DOI:10.1097/YCO.0b013e328010ca65
 PMID:16472910
 著者        Tochigi M, Hibino H, Otowa T, Kato C, Marui T, Ohtani T, Umekage T, Kato N, Sasaki T
 タイトル      Association between dopamine D4 receptor (DRD4) exon III polymorphism and Neuroticism in the Japanese population.
 雑誌        Neurosci Lett 398:333-6 (2006)
 DOI:10.1016/j.neulet.2006.01.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01671"">H01671</a>","神経症;
 ノイローゼ","Neurosis is a class of functional mental disorders involving distress but neither delusions nor hallucinations, whereby behavior is not outside socially acceptable norms. The state of research on neurosis has moved towards looking at biological and genetic substrates or mechanisms underlying neurosis. The recent literature shows acceptance of common mental disorders such as Generalized anxiety disorder (GAD), Panic disorder (PD), and Obsessive-compulsive disorder (OCD), across cultures replacing neurotic disorder. Usage of the diagnosis of neurosis has been decreased, and replaced by newer categories in the current popular classificatory systems. In the International Classification of Diseases (ICD-10), all disorders regarded as neurosis remained together but under the division of rubric 'neurotic, stress-related and somatoform disorders'. In the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), neurosis has been eliminated as a category.",,"DRD4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1815"">1815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04147"">K04147</a>]",,,,"温経湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06919"">D06919</a>]
 温清飲エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06920"">D06920</a>]
 黄連解毒湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06924"">D06924</a>]
 加味帰脾湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06929"">D06929</a>]
 甘麦大棗湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06931"">D06931</a>]
 芎帰調血飲 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06936"">D06936</a>]
 柴胡加竜骨牡蛎湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06962"">D06962</a>]
 柴胡桂枝乾姜湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06963"">D06963</a>]
 柴胡清肝湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06965"">D06965</a>]
 大柴胡湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07004"">D07004</a>]
 大承気湯 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07006"">D07006</a>]
 女神散 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07026"">D07026</a>]
 半夏厚朴湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07032"">D07032</a>]
 半夏瀉心湯エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07033"">D07033</a>]
 抑肝散エキス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07049"">D07049</a>]
 抑肝散加陳皮半夏 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07050"">D07050</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01662"">H01662</a> Generalized anxiety disorder, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01664"">H01664</a> Panic disorder, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01670"">H01670</a> Social anxiety disorder, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01453"">H01453</a> Obsessive-Compulsive and Related Disorder (OCRD).","ICD-10: F48
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009497"">D009497</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17143082"">17143082</a>
 著者        Chaturvedi SK, Bhugra D
 タイトル      The concept of neurosis in a cross-cultural perspective.
 雑誌        Curr Opin Psychiatry 20:47-51 (2007)
 DOI:<a href=""https://doi.org/10.1097/YCO.0b013e328010ca65"">10.1097/YCO.0b013e328010ca65</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16472910"">16472910</a>
 著者        Tochigi M, Hibino H, Otowa T, Kato C, Marui T, Ohtani T, Umekage T, Kato N, Sasaki T
 タイトル      Association between dopamine D4 receptor (DRD4) exon III polymorphism and Neuroticism in the Japanese population.
 雑誌        Neurosci Lett 398:333-6 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.neulet.2006.01.020"">10.1016/j.neulet.2006.01.020</a>"
H01672,"若年性特発性関節炎
 下位グループ    若年性関節リウマチ
 スチル病
 若年性関節炎 (JUVAR)
 上位グループ    関節リウマチ [DS:H00630]",,,"Juvenile idiopathic arthritis (JIA) is one of the most common childhood rheumatic diseases. Clinically, it is defined as arthritis of unknown origin that starts before the age of 16, and persists for at least 6 weeks. Next to a certain genetic predisposition, environmental factors play a role leading to a chronic inflammatory response. JIA is not a single disorder but consists of a heterogeneous group of auto-immune inflammatory diseases. It has variable rates in course and activity of disease. Based on 6 months of clinical symptoms and global prognostic factors, the following clinical subtypes of JIA are recognized: systemic JIA, oligoarthritis, RF-negative polyarthritis, RF-positive polyarthritis, psoriatic JIA, enthesitis- related arthritis, and undifferentiated arthritis. Systemic JIA, also known as Still's disease, is a subtype with strong systemic clinical symptoms. Patients with systemic JIA have, in addition to arthritis, prominent symptoms of systemic inflammation such as spiking fever, rash, pericarditis, peritonitis, lymphadenopathy and organomegaly. A severe and often life-threatening complication occurring in 10-30% of patients with systemic JIA is macrophage activation syndrome. Polymorphisms in the IL6 and in the MIF gene have been found to be associated with susceptibility to the disorder. Based on the known relevance of IL6 in JIA pathophysiology, tocilizumab has been investigated and approved for use in the treatment of systemic and polyarticular JIA.",免疫系疾患,,"IL6 [HSA:3569] [KO:K05405]
 MIF [HSA:4282] [KO:K07253]
 (JUVAR) LACC1 [HSA:144811] [KO:K05810]",,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 メトトレキサート [DR:D00142]
 アバタセプト [DR:D03203]
 エタネルセプト [DR:D00742]
 アダリムマブ [DR:D02597]
 カナキヌマブ [DR:D09315]
 トシリズマブ [DR:D02596]",See also H01516 Adult onset Still's disease.,"ICD-11: FA24
 ICD-10: M08
 MeSH: D001171
 OMIM: 604302 618795","PMID:27461267
 著者        Swart JF, de Roock S, Prakken BJ
 タイトル      Understanding inflammation in juvenile idiopathic arthritis: How immune biomarkers guide clinical strategies in the systemic onset subtype.
 雑誌        Eur J Immunol 46:2068-77 (2016)
 DOI:10.1002/eji.201546092
 PMID:9769329 (IL6)
 著者        Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, Woo P
 タイトル      The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis.
 雑誌        J Clin Invest 102:1369-76 (1998)
 DOI:10.1172/JCI2629
 PMID:11508429 (MIF)
 著者        Donn RP, Shelley E, Ollier WE, Thomson W
 タイトル      A novel 5'-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis.
 雑誌        Arthritis Rheum 44:1782-5 (2001)
 DOI:10.1002/1529-0131(200108)44:8<1782::AID-ART314>3.0.CO;2-#
 PMID:27881174 (LACC1)
 著者        Kallinich T, Thorwarth A, von Stuckrad SL, Rosen-Wolff A, Luksch H, Hundsdoerfer P, Minden K, Krawitz P
 タイトル      Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
 雑誌        Pediatr Rheumatol Online J 14:63 (2016)
 DOI:10.1186/s12969-016-0124-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01672"">H01672</a>","若年性特発性関節炎
 下位グループ    若年性関節リウマチ
 スチル病
 若年性関節炎 (JUVAR)
 上位グループ    関節リウマチ [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00630"">H00630</a>]","Juvenile idiopathic arthritis (JIA) is one of the most common childhood rheumatic diseases. Clinically, it is defined as arthritis of unknown origin that starts before the age of 16, and persists for at least 6 weeks. Next to a certain genetic predisposition, environmental factors play a role leading to a chronic inflammatory response. JIA is not a single disorder but consists of a heterogeneous group of auto-immune inflammatory diseases. It has variable rates in course and activity of disease. Based on 6 months of clinical symptoms and global prognostic factors, the following clinical subtypes of JIA are recognized: systemic JIA, oligoarthritis, RF-negative polyarthritis, RF-positive polyarthritis, psoriatic JIA, enthesitis- related arthritis, and undifferentiated arthritis. Systemic JIA, also known as Still's disease, is a subtype with strong systemic clinical symptoms. Patients with systemic JIA have, in addition to arthritis, prominent symptoms of systemic inflammation such as spiking fever, rash, pericarditis, peritonitis, lymphadenopathy and organomegaly. A severe and often life-threatening complication occurring in 10-30% of patients with systemic JIA is macrophage activation syndrome. Polymorphisms in the IL6 and in the MIF gene have been found to be associated with susceptibility to the disorder. Based on the known relevance of IL6 in JIA pathophysiology, tocilizumab has been investigated and approved for use in the treatment of systemic and polyarticular JIA.",,"IL6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3569"">3569</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05405"">K05405</a>]
 MIF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4282"">4282</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07253"">K07253</a>]
 (JUVAR) LACC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:144811"">144811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05810"">K05810</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 メトトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00142"">D00142</a>]
 アバタセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03203"">D03203</a>]
 エタネルセプト [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00742"">D00742</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]
 トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01516"">H01516</a> Adult onset Still's disease.","ICD-11: FA24
 ICD-10: M08
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001171"">D001171</a>
 OMIM: <a href=""https://www.omim.org/entry/604302"">604302</a> <a href=""https://www.omim.org/entry/618795"">618795</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27461267"">27461267</a>
 著者        Swart JF, de Roock S, Prakken BJ
 タイトル      Understanding inflammation in juvenile idiopathic arthritis: How immune biomarkers guide clinical strategies in the systemic onset subtype.
 雑誌        Eur J Immunol 46:2068-77 (2016)
 DOI:<a href=""https://doi.org/10.1002/eji.201546092"">10.1002/eji.201546092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9769329"">9769329</a> (IL6)
 著者        Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, Woo P
 タイトル      The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis.
 雑誌        J Clin Invest 102:1369-76 (1998)
 DOI:<a href=""https://doi.org/10.1172/JCI2629"">10.1172/JCI2629</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11508429"">11508429</a> (MIF)
 著者        Donn RP, Shelley E, Ollier WE, Thomson W
 タイトル      A novel 5'-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis.
 雑誌        Arthritis Rheum 44:1782-5 (2001)
 DOI:<a href=""https://doi.org/10.1002/1529-0131(200108)44:"">10.1002/1529-0131(200108)44:</a><a href=""https://doi.org/8<1782:"">8<1782:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-ART314>3.0.CO;2-#"">AID-ART314>3.0.CO;2-#</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27881174"">27881174</a> (LACC1)
 著者        Kallinich T, Thorwarth A, von Stuckrad SL, Rosen-Wolff A, Luksch H, Hundsdoerfer P, Minden K, Krawitz P
 タイトル      Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
 雑誌        Pediatr Rheumatol Online J 14:63 (2016)
 DOI:<a href=""https://doi.org/10.1186/s12969-016-0124-2"">10.1186/s12969-016-0124-2</a>"
H01673,"掌蹠角化症
 下位グループ    表皮剥離性掌蹠角化症 [DS:H00722]
 非表皮融解性掌蹠角化症 [DS:H00723]
 線状掌蹠角化症 [DS:H00717]
 点状掌蹠角化症 [DS:H01404]
 難聴を伴う掌蹠角化症 [DS:H00716]",,,"Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist. The causes of acquired PPK vary, and include exposure to certain chemicals, side effects of certain drugs, and metabolic disorders. There is as yet no cure for hereditary PPK. In patients with acquired PPK, the cause should be treated or eliminated, if possible. In both instances, optimized treatment can lead to a significant improvement in symptoms. Topical therapy with urea-based ointments improves the skin's absorption of moisture and has keratolytic effects. Topical vitamin D therapy is another option.",皮膚と軟部組織の疾患,,,,,,"トコフェロール・ビタミンA [DR:D04805]
 尿素 [DR:D00023]
 タカルシトール水和物 [DR:D01472]
 マキサカルシトール [DR:D01098]
 エトレチナート [DR:D00316]","Hereditary PPK are divided morphologically into four types; diffuse, focal, striate and punctate. PPK can be further subdivided histologically into epidermolytic and nonepidermolytic PPK.","ICD-11: ED55
 ICD-10: L85.1
 MeSH: D007645
 OMIM: 144200","PMID:25176457
 著者        Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S
 タイトル      Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.
 雑誌        J Dtsch Dermatol Ges 12:781-8 (2014)
 DOI:10.1111/ddg.12418
 PMID:26945534
 著者        Sakiyama T, Kubo A
 タイトル      Hereditary palmoplantar keratoderma ""clinical and genetic differential diagnosis"".
 雑誌        J Dermatol 43:264-74 (2016)
 DOI:10.1111/1346-8138.13219
 PMID:8595410
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:10.1093/hmg/4.10.1875","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>","掌蹠角化症
 下位グループ    表皮剥離性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00722"">H00722</a>]
 非表皮融解性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>]
 線状掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00717"">H00717</a>]
 点状掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01404"">H01404</a>]
 難聴を伴う掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00716"">H00716</a>]","Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist. The causes of acquired PPK vary, and include exposure to certain chemicals, side effects of certain drugs, and metabolic disorders. There is as yet no cure for hereditary PPK. In patients with acquired PPK, the cause should be treated or eliminated, if possible. In both instances, optimized treatment can lead to a significant improvement in symptoms. Topical therapy with urea-based ointments improves the skin's absorption of moisture and has keratolytic effects. Topical vitamin D therapy is another option.",,,,,,"トコフェロール・ビタミンA [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04805"">D04805</a>]
 尿素 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00023"">D00023</a>]
 タカルシトール水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01472"">D01472</a>]
 マキサカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01098"">D01098</a>]
 エトレチナート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00316"">D00316</a>]","Hereditary PPK are divided morphologically into four types; diffuse, focal, striate and punctate. PPK can be further subdivided histologically into epidermolytic and nonepidermolytic PPK.","ICD-11: ED55
 ICD-10: L85.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007645"">D007645</a>
 OMIM: <a href=""https://www.omim.org/entry/144200"">144200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25176457"">25176457</a>
 著者        Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S
 タイトル      Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.
 雑誌        J Dtsch Dermatol Ges 12:781-8 (2014)
 DOI:<a href=""https://doi.org/10.1111/ddg.12418"">10.1111/ddg.12418</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26945534"">26945534</a>
 著者        Sakiyama T, Kubo A
 タイトル      Hereditary palmoplantar keratoderma ""clinical and genetic differential diagnosis"".
 雑誌        J Dermatol 43:264-74 (2016)
 DOI:<a href=""https://doi.org/10.1111/1346-8138.13219"">10.1111/1346-8138.13219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8595410"">8595410</a>
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:<a href=""https://doi.org/10.1093/hmg/4.10.1875"">10.1093/hmg/4.10.1875</a>"
H01674,"強直性脊椎炎;
 ベヒテレフ病",,,"Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of a group of inflammatory diseases, called spondyloarthritides, which share features. This disease is characterized by erosion, sclerosis, and ossification, which may result in complete fusion and rigidity of the spine. Regarding extra-articular manifestations, the most frequent is anterior uveitis. The major functional losses occur during the first 10 years of disease. It usually begins in the second or third decade of life, preferentially in HLA-B27-positive Caucasian males. Its etiology and pathogenesis are not completely understood, but the most prevalent hypothesis involves immune mediation as its major mechanism, including several cytokines. To date, more than 40 genetic variants have been identified that influence the risk of developing AS, including HLA alleles such as HLA-B27.",免疫系疾患; 筋骨格疾患,,HLA-B [HSA:3106] [KO:K06751],,,,"アスピリン [DR:D00109]
 ナプロキセン [DR:D00118]
 デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 インフリキシマブ [DR:D02598]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 ウパダシチニブ水和物 [DR:D11048]
 アダリムマブ [DR:D02597]
 セクキヌマブ [DR:D09967]
 ブロダルマブ [DR:D10061]
 イキセキズマブ [DR:D10071]",See also H00630 Rheumatoid arthritis and H01656 Psoriasis.,"ICD-11: FA92
 ICD-10: M45
 MeSH: D013167
 OMIM: 106300","PMID:23090374
 著者        Gouveia EB, Elmann D, Morales MS
 タイトル      Ankylosing spondylitis and uveitis: overview.
 雑誌        Rev Bras Reumatol 52:742-56 (2012)
 DOI:10.1590/S0482-50042012000500009
 PMID:27445458 (drug)
 著者        Koenders MI, van den Berg WB
 タイトル      Secukinumab for rheumatology: development and its potential place in therapy.
 雑誌        Drug Des Devel Ther 10:2069-80 (2016)
 DOI:10.2147/DDDT.S105263
 PMID:26439405
 著者        Brown MA, Kenna T, Wordsworth BP
 タイトル      Genetics of ankylosing spondylitis--insights into pathogenesis.
 雑誌        Nat Rev Rheumatol 12:81-91 (2016)
 DOI:10.1038/nrrheum.2015.133","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01674"">H01674</a>","強直性脊椎炎;
 ベヒテレフ病","Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of a group of inflammatory diseases, called spondyloarthritides, which share features. This disease is characterized by erosion, sclerosis, and ossification, which may result in complete fusion and rigidity of the spine. Regarding extra-articular manifestations, the most frequent is anterior uveitis. The major functional losses occur during the first 10 years of disease. It usually begins in the second or third decade of life, preferentially in HLA-B27-positive Caucasian males. Its etiology and pathogenesis are not completely understood, but the most prevalent hypothesis involves immune mediation as its major mechanism, including several cytokines. To date, more than 40 genetic variants have been identified that influence the risk of developing AS, including HLA alleles such as HLA-B27.",,"HLA-B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]",,,,"アスピリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00109"">D00109</a>]
 ナプロキセン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00118"">D00118</a>]
 デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 ウパダシチニブ水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11048"">D11048</a>]
 アダリムマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02597"">D02597</a>]
 セクキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09967"">D09967</a>]
 ブロダルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10061"">D10061</a>]
 イキセキズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10071"">D10071</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00630"">H00630</a> Rheumatoid arthritis and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01656"">H01656</a> Psoriasis.","ICD-11: FA92
 ICD-10: M45
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013167"">D013167</a>
 OMIM: <a href=""https://www.omim.org/entry/106300"">106300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23090374"">23090374</a>
 著者        Gouveia EB, Elmann D, Morales MS
 タイトル      Ankylosing spondylitis and uveitis: overview.
 雑誌        Rev Bras Reumatol 52:742-56 (2012)
 DOI:<a href=""https://doi.org/10.1590/S0482-50042012000500009"">10.1590/S0482-50042012000500009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27445458"">27445458</a> (drug)
 著者        Koenders MI, van den Berg WB
 タイトル      Secukinumab for rheumatology: development and its potential place in therapy.
 雑誌        Drug Des Devel Ther 10:2069-80 (2016)
 DOI:<a href=""https://doi.org/10.2147/DDDT.S105263"">10.2147/DDDT.S105263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26439405"">26439405</a>
 著者        Brown MA, Kenna T, Wordsworth BP
 タイトル      Genetics of ankylosing spondylitis--insights into pathogenesis.
 雑誌        Nat Rev Rheumatol 12:81-91 (2016)
 DOI:<a href=""https://doi.org/10.1038/nrrheum.2015.133"">10.1038/nrrheum.2015.133</a>"
H01675,脊髄空洞症,,,"Syringomyelia is a spinal disorder characterized by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia. If fluid continues to enlarge the cyst, the syrinx has the potential to compress or destroy the affected portions of the spinal cord. Surgical intervention is typically recommended to treat this condition, although a successful procedure often is limited to providing minimal neurological improvement or simply halting the deterioration. The term syringomyelia describes many pathogenetically different disorders. A popular broad grouping is a classification based on the assumed pathogenesis and association with other disorders. It has been proposed to divide the disorder into three subgroups. (1) Syringomyelia as a result of changed cerebrospinal fluid (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker syndrome, arachnoiditis or osseous abnormalities. (2) Syringomyelia as a result of intramedullary tissue damage caused by haemorrhage or infarction. (3) Syringomyelia as a result of intramedullary tumour with secretory capabilities. Other proposed classifications are based on syrinx fluid composition, central canal communication between syrinx and the fourth ventricle, or the microanatomical localisation of the syrinx.",先天奇形,,,,,,,"See also H01561 Chiari malformation, and H01675 Dandy-Walker syndrome.","ICD-11: 8D66 LA07.3
 ICD-10: G95.0 Q06.4
 MeSH: D013595
 OMIM: 186700","PMID:25236931
 著者        Blegvad C, Grotenhuis JA, Juhler M
 タイトル      Syringomyelia: a practical, clinical concept for classification.
 雑誌        Acta Neurochir (Wien) 156:2127-38 (2014)
 DOI:10.1007/s00701-014-2229-z
 PMID:19119392
 著者        Rene Hudson B, Cook C, Goode A
 タイトル      Identifying myelopathy caused by thoracic syringomyelia: a case report.
 雑誌        J Man Manip Ther 16:82-8 (2008)
 DOI:10.1179/106698108790818512","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01675"">H01675</a>",脊髄空洞症,"Syringomyelia is a spinal disorder characterized by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia. If fluid continues to enlarge the cyst, the syrinx has the potential to compress or destroy the affected portions of the spinal cord. Surgical intervention is typically recommended to treat this condition, although a successful procedure often is limited to providing minimal neurological improvement or simply halting the deterioration. The term syringomyelia describes many pathogenetically different disorders. A popular broad grouping is a classification based on the assumed pathogenesis and association with other disorders. It has been proposed to divide the disorder into three subgroups. (1) Syringomyelia as a result of changed cerebrospinal fluid (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker syndrome, arachnoiditis or osseous abnormalities. (2) Syringomyelia as a result of intramedullary tissue damage caused by haemorrhage or infarction. (3) Syringomyelia as a result of intramedullary tumour with secretory capabilities. Other proposed classifications are based on syrinx fluid composition, central canal communication between syrinx and the fourth ventricle, or the microanatomical localisation of the syrinx.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01561"">H01561</a> Chiari malformation, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01675"">H01675</a> Dandy-Walker syndrome.","ICD-11: 8D66 LA07.3
 ICD-10: G95.0 Q06.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013595"">D013595</a>
 OMIM: <a href=""https://www.omim.org/entry/186700"">186700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25236931"">25236931</a>
 著者        Blegvad C, Grotenhuis JA, Juhler M
 タイトル      Syringomyelia: a practical, clinical concept for classification.
 雑誌        Acta Neurochir (Wien) 156:2127-38 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00701-014-2229-z"">10.1007/s00701-014-2229-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19119392"">19119392</a>
 著者        Rene Hudson B, Cook C, Goode A
 タイトル      Identifying myelopathy caused by thoracic syringomyelia: a case report.
 雑誌        J Man Manip Ther 16:82-8 (2008)
 DOI:<a href=""https://doi.org/10.1179/106698108790818512"">10.1179/106698108790818512</a>"
H01676,正常圧水頭症,,,"Normal pressure hydrocephalus (NPH) is a progressive brain disease characterized by gait impairment, urinary incontinence, and dementia, and by ventricular enlargement in the absence of elevated intracranial pressure. NPH can be secondary to disease processes that cause inflammation of the arachnoid, such as subarachnoid hemorrhage, traumatic brain injury, or meningitis. As many as half of patients with NPH have no identifiable risk factor, and it is called idiopathic normal pressure hydrocephalus (INPH). Although INPH is usually considered an acquired form of hydrocephalus because the onset of symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus. Symptoms can be alleviated with a cerebrospinal fluid (CSF) shunt.",神経系疾患,,,,,,,,"ICD-11: 8D64.04
 ICD-10: G91.2
 MeSH: D006850
 OMIM: 236690 611808","PMID:25061869
 著者        Golz L, Ruppert FH, Meier U, Lemcke J
 タイトル      Outcome of modern shunt therapy in patients with idiopathic normal pressure hydrocephalus 6 years postoperatively.
 雑誌        J Neurosurg 121:771-5 (2014)
 DOI:10.3171/2014.6.JNS131211
 PMID:17202229
 著者        Wilson RK, Williams MA
 タイトル      Evidence that congenital hydrocephalus is a precursor to idiopathic normal pressure hydrocephalus in only a subset of patients.
 雑誌        J Neurol Neurosurg Psychiatry 78:508-11 (2007)
 DOI:10.1136/jnnp.2006.108761
 PMID:16239882 (treatment)
 著者        McGirt MJ, Woodworth G, Coon AL, Thomas G, Williams MA, Rigamonti D
 タイトル      Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus.
 雑誌        Neurosurgery 57:699-705; discussion 699-705 (2005)
 DOI:10.1227/01.NEU.0000175724.00147.10
 PMID:18203159
 著者        Zhang J, Williams MA, Rigamonti D
 タイトル      Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH).
 雑誌        Am J Med Genet A 146A:433-9 (2008)
 DOI:10.1002/ajmg.a.31958","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01676"">H01676</a>",正常圧水頭症,"Normal pressure hydrocephalus (NPH) is a progressive brain disease characterized by gait impairment, urinary incontinence, and dementia, and by ventricular enlargement in the absence of elevated intracranial pressure. NPH can be secondary to disease processes that cause inflammation of the arachnoid, such as subarachnoid hemorrhage, traumatic brain injury, or meningitis. As many as half of patients with NPH have no identifiable risk factor, and it is called idiopathic normal pressure hydrocephalus (INPH). Although INPH is usually considered an acquired form of hydrocephalus because the onset of symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus. Symptoms can be alleviated with a cerebrospinal fluid (CSF) shunt.",,,,,,,,"ICD-11: 8D64.04
 ICD-10: G91.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006850"">D006850</a>
 OMIM: <a href=""https://www.omim.org/entry/236690"">236690</a> <a href=""https://www.omim.org/entry/611808"">611808</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25061869"">25061869</a>
 著者        Golz L, Ruppert FH, Meier U, Lemcke J
 タイトル      Outcome of modern shunt therapy in patients with idiopathic normal pressure hydrocephalus 6 years postoperatively.
 雑誌        J Neurosurg 121:771-5 (2014)
 DOI:<a href=""https://doi.org/10.3171/2014.6.JNS131211"">10.3171/2014.6.JNS131211</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17202229"">17202229</a>
 著者        Wilson RK, Williams MA
 タイトル      Evidence that congenital hydrocephalus is a precursor to idiopathic normal pressure hydrocephalus in only a subset of patients.
 雑誌        J Neurol Neurosurg Psychiatry 78:508-11 (2007)
 DOI:<a href=""https://doi.org/10.1136/jnnp.2006.108761"">10.1136/jnnp.2006.108761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16239882"">16239882</a> (treatment)
 著者        McGirt MJ, Woodworth G, Coon AL, Thomas G, Williams MA, Rigamonti D
 タイトル      Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus.
 雑誌        Neurosurgery 57:699-705; discussion 699-705 (2005)
 DOI:<a href=""https://doi.org/10.1227/01.NEU.0000175724.00147.10"">10.1227/01.NEU.0000175724.00147.10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203159"">18203159</a>
 著者        Zhang J, Williams MA, Rigamonti D
 タイトル      Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH).
 雑誌        Am J Med Genet A 146A:433-9 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31958"">10.1002/ajmg.a.31958</a>"
H01677,"先天性水頭症
 下位グループ    X 連鎖性水頭症 [DS:H02458]
 先天性交通性水頭症 (HYDCC)
 正常圧水頭症 (HYDNP)",,,"Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder, hydrocephalus is a collection of a heterogeneous complex and multifactorial disorders. It may occur alone (non-syndromic) or as part of a syndrome with other anomalies. Almost 50% of all cases of hydrocephalus are congenital and these are usually associated with adverse neurological outcome. It is probably the consequence of abnormal brain development. Genetic factors are involved in the pathogenesis of this disease. Molecular genetic studies have revealed that the responsible gene for X-linked human congenital hydrocephalus is encoding for L1CAM. Although the recurrence risk for congenital hydrocephalus excluding X-linked hydrocephalus is low, recently, a few genes for autosomal recessive congenital hydrocephalus have been identified. Besides genetic factors, many other factors influence the development of congenital hydrocephalus, such as congenital malformations, intracerebral hemorrhage, maternal alcohol use, infection, and X-ray radiation during pregnancy.",先天奇形,,"(HYC1) CCDC88C [HSA:440193] [KO:K25811]
 (HYC2) MPDZ [HSA:8777] [KO:K06095]
 (HYC3) WDR81 [HSA:124997] [KO:K17601]
 (HYDCC1) TRIM71 [HSA:131405] [KO:K12035]
 (HYDNP1) CFAP43 [HSA:80217] [KO:K24223]",,,,,,"ICD-11: LA04
 ICD-10: Q03
 MeSH: D006849
 OMIM: 236600 615219 617967 307000 618667 236690","PMID:16773266
 著者        Zhang J, Williams MA, Rigamonti D
 タイトル      Genetics of human hydrocephalus.
 雑誌        J Neurol 253:1255-66 (2006)
 DOI:10.1007/s00415-006-0245-5
 PMID:23042809 (HYC1)
 著者        Drielsma A, Jalas C, Simonis N, Desir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S
 タイトル      Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
 雑誌        J Med Genet 49:708-12 (2012)
 DOI:10.1136/jmedgenet-2012-101190
 PMID:23240096 (HYC2)
 著者        Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS
 タイトル      Mutation in MPDZ causes severe congenital hydrocephalus.
 雑誌        J Med Genet 50:54-8 (2013)
 DOI:10.1136/jmedgenet-2012-101294
 PMID:33724704 (HYC3)
 著者        Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z
 タイトル      Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
 雑誌        Mol Genet Genomic Med 9:e1624 (2021)
 DOI:10.1002/mgg3.1624
 PMID:26057209 (HYDCC1)
 著者        Mitschka S, Ulas T, Goller T, Schneider K, Egert A, Mertens J, Brustle O, Schorle H, Beyer M, Klee K, Xue J, Gunther P, Bassler K, Schultze JL, Kolanus W
 タイトル      Co-existence of intact stemness and priming of neural differentiation programs in mES cells lacking Trim71.
 雑誌        Sci Rep 5:11126 (2015)
 DOI:10.1038/srep11126
 PMID:31004071 (HYDNP1)
 著者        Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S
 タイトル      Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
 雑誌        Neurology 92:e2364-e2374 (2019)
 DOI:10.1212/WNL.0000000000007505","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01677"">H01677</a>","先天性水頭症
 下位グループ    X 連鎖性水頭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02458"">H02458</a>]
 先天性交通性水頭症 (HYDCC)
 正常圧水頭症 (HYDNP)","Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder, hydrocephalus is a collection of a heterogeneous complex and multifactorial disorders. It may occur alone (non-syndromic) or as part of a syndrome with other anomalies. Almost 50% of all cases of hydrocephalus are congenital and these are usually associated with adverse neurological outcome. It is probably the consequence of abnormal brain development. Genetic factors are involved in the pathogenesis of this disease. Molecular genetic studies have revealed that the responsible gene for X-linked human congenital hydrocephalus is encoding for L1CAM. Although the recurrence risk for congenital hydrocephalus excluding X-linked hydrocephalus is low, recently, a few genes for autosomal recessive congenital hydrocephalus have been identified. Besides genetic factors, many other factors influence the development of congenital hydrocephalus, such as congenital malformations, intracerebral hemorrhage, maternal alcohol use, infection, and X-ray radiation during pregnancy.",,"(HYC1) CCDC88C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440193"">440193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25811"">K25811</a>]
 (HYC2) MPDZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8777"">8777</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06095"">K06095</a>]
 (HYC3) WDR81 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:124997"">124997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17601"">K17601</a>]
 (HYDCC1) TRIM71 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:131405"">131405</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12035"">K12035</a>]
 (HYDNP1) CFAP43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80217"">80217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24223"">K24223</a>]",,,,,,"ICD-11: LA04
 ICD-10: Q03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006849"">D006849</a>
 OMIM: <a href=""https://www.omim.org/entry/236600"">236600</a> <a href=""https://www.omim.org/entry/615219"">615219</a> <a href=""https://www.omim.org/entry/617967"">617967</a> <a href=""https://www.omim.org/entry/307000"">307000</a> <a href=""https://www.omim.org/entry/618667"">618667</a> <a href=""https://www.omim.org/entry/236690"">236690</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16773266"">16773266</a>
 著者        Zhang J, Williams MA, Rigamonti D
 タイトル      Genetics of human hydrocephalus.
 雑誌        J Neurol 253:1255-66 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00415-006-0245-5"">10.1007/s00415-006-0245-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23042809"">23042809</a> (HYC1)
 著者        Drielsma A, Jalas C, Simonis N, Desir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S
 タイトル      Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
 雑誌        J Med Genet 49:708-12 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101190"">10.1136/jmedgenet-2012-101190</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23240096"">23240096</a> (HYC2)
 著者        Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS
 タイトル      Mutation in MPDZ causes severe congenital hydrocephalus.
 雑誌        J Med Genet 50:54-8 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101294"">10.1136/jmedgenet-2012-101294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33724704"">33724704</a> (HYC3)
 著者        Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z
 タイトル      Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
 雑誌        Mol Genet Genomic Med 9:e1624 (2021)
 DOI:<a href=""https://doi.org/10.1002/mgg3.1624"">10.1002/mgg3.1624</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26057209"">26057209</a> (HYDCC1)
 著者        Mitschka S, Ulas T, Goller T, Schneider K, Egert A, Mertens J, Brustle O, Schorle H, Beyer M, Klee K, Xue J, Gunther P, Bassler K, Schultze JL, Kolanus W
 タイトル      Co-existence of intact stemness and priming of neural differentiation programs in mES cells lacking Trim71.
 雑誌        Sci Rep 5:11126 (2015)
 DOI:<a href=""https://doi.org/10.1038/srep11126"">10.1038/srep11126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31004071"">31004071</a> (HYDNP1)
 著者        Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S
 タイトル      Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
 雑誌        Neurology 92:e2364-e2374 (2019)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000007505"">10.1212/WNL.0000000000007505</a>"
H01678,ダンディ・ウォーカー症候群,,,"Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced tentorium. Patients often have motor deficits such as delayed motor development, hypotonia and ataxia. About half have mental retardation, and some have hydrocephalus. It has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal (CP) shunt insertion are the most common choices in the treatment of DWS.",先天奇形,,"ZIC1 [HSA:7545] [KO:K09224]
 ZIC4 [HSA:84107] [KO:K09225]",,,,,,"ICD-11: LA06.0
 ICD-10: Q03.1
 MeSH: D003616
 OMIM: 220200","PMID:15338008
 著者        Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ
 タイトル      Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
 雑誌        Nat Genet 36:1053-5 (2004)
 DOI:10.1038/ng1420
 PMID:26770421 (treatment)
 著者        Lin J, Liang G, Liang Y, Kou Y
 タイトル      Long-term follow-up of successful treatment for dandy-walker syndrome (DWS).
 雑誌        Int J Clin Exp Med 8:18203-7 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01678"">H01678</a>",ダンディ・ウォーカー症候群,"Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced tentorium. Patients often have motor deficits such as delayed motor development, hypotonia and ataxia. About half have mental retardation, and some have hydrocephalus. It has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal (CP) shunt insertion are the most common choices in the treatment of DWS.",,"ZIC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7545"">7545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09224"">K09224</a>]
 ZIC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84107"">84107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09225"">K09225</a>]",,,,,,"ICD-11: LA06.0
 ICD-10: Q03.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003616"">D003616</a>
 OMIM: <a href=""https://www.omim.org/entry/220200"">220200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15338008"">15338008</a>
 著者        Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ
 タイトル      Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
 雑誌        Nat Genet 36:1053-5 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1420"">10.1038/ng1420</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26770421"">26770421</a> (treatment)
 著者        Lin J, Liang G, Liang Y, Kou Y
 タイトル      Long-term follow-up of successful treatment for dandy-walker syndrome (DWS).
 雑誌        Int J Clin Exp Med 8:18203-7 (2015)"
H01679,肝内結石症,,,"Intrahepatic lithiasis is very common disease in East Asia, characterized by the recurrent pyogenic cholangitis. The main clinical symptoms are abdominal pain, fever and jaundice. Pathologically, the intrahepatic ducts are dilated and contain soft, pigmented stones, mainly calcium bilirubinate stones. It is likely to lead to biliary cirrhosis and increase the risk of cholangiocarcinoma. Hence, the treatment of this disease is difficult but vital. Currently, various treatment options have been available, including liver resection, percutaneous approach, endoscopic approach and laser lithotripsy.",肝疾患,,,,,,,,"ICD-11: DC11.7
 ICD-10: K80
 MeSH: D020347","PMID:23558070
 著者        Jiang ZJ, Chen Y, Wang WL, Shen Y, Zhang M, Xie HY, Zhou L, Zheng SS
 タイトル      Management hepatolithiasis with operative choledochoscopic FREDDY laser lithotripsy combined with or without hepatectomy.
 雑誌        Hepatobiliary Pancreat Dis Int 12:160-4 (2013)
 DOI:10.1016/S1499-3872(13)60026-0
 PMID:2048504
 著者        Lim JH
 タイトル      Oriental cholangiohepatitis: pathologic, clinical, and radiologic features.
 雑誌        AJR Am J Roentgenol 157:1-8 (1991)
 DOI:10.2214/ajr.157.1.2048504","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01679"">H01679</a>",肝内結石症,"Intrahepatic lithiasis is very common disease in East Asia, characterized by the recurrent pyogenic cholangitis. The main clinical symptoms are abdominal pain, fever and jaundice. Pathologically, the intrahepatic ducts are dilated and contain soft, pigmented stones, mainly calcium bilirubinate stones. It is likely to lead to biliary cirrhosis and increase the risk of cholangiocarcinoma. Hence, the treatment of this disease is difficult but vital. Currently, various treatment options have been available, including liver resection, percutaneous approach, endoscopic approach and laser lithotripsy.",,,,,,,,"ICD-11: DC11.7
 ICD-10: K80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020347"">D020347</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23558070"">23558070</a>
 著者        Jiang ZJ, Chen Y, Wang WL, Shen Y, Zhang M, Xie HY, Zhou L, Zheng SS
 タイトル      Management hepatolithiasis with operative choledochoscopic FREDDY laser lithotripsy combined with or without hepatectomy.
 雑誌        Hepatobiliary Pancreat Dis Int 12:160-4 (2013)
 DOI:<a href=""https://doi.org/10.1016/S1499-3872(13)60026-0"">10.1016/S1499-3872(13)60026-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2048504"">2048504</a>
 著者        Lim JH
 タイトル      Oriental cholangiohepatitis: pathologic, clinical, and radiologic features.
 雑誌        AJR Am J Roentgenol 157:1-8 (1991)
 DOI:<a href=""https://doi.org/10.2214/ajr.157.1.2048504"">10.2214/ajr.157.1.2048504</a>"
H01680,慢性膵炎,,,"Chronic pancreatitis is a progressive inflammatory disease of the pancreas that will finally result in both exocrine and endocrine insufficiency. Chronic pancreatitis develops gradually and worsens over time, resulting in permanent organ damage. It is usually caused by recurrent episodes of pancreatic necro-inflammation, leading to pancreatic atrophy and dysfunction. It manifests clinically as maldigestion, weight loss, abdominal pain and eventually diabetes. Six major etiologies for chronic pancreatitis have been identified, namely toxic-metabolic (to include alcohol), idiopathic, genetic, autoimmune, recurrent and severe acute pancreatitis, and obstruction. Oral protease inhibitors are currently used as a medical treatment for chronic pancreatitis.",膵疾患,,,,Alcohol and smoking.,,"トレピブトン [DR:D01365]
 カモスタットメシル酸塩 [DR:D01766]
 ナファモスタットメシル酸塩 [DR:D01670]
 ガベキサートメシル酸塩 [DR:D01672]",See also H00933 Hereditary pancreatitis.,"ICD-11: DC32
 ICD-10: K86.1
 MeSH: D050500
 OMIM: 167800","PMID:20567557
 著者        Banks PA, Conwell DL, Toskes PP
 タイトル      The management of acute and chronic pancreatitis.
 雑誌        Gastroenterol Hepatol (N Y) 6:1-16 (2010)
 PMID:18442214
 著者        Frossard JL, Dumonceau JM, Pastor C, Spahr L, Hadengue A
 タイトル      Concomitant autoimmune and genetic pancreatitis leads to severe inflammatory conditions.
 雑誌        World J Gastroenterol 14:2596-8 (2008)
 DOI:10.3748/wjg.14.2596
 PMID:25228979 (marker)
 著者        Hirano K, Saito T, Mizuno S, Tada M, Sasahira N, Isayama H, Matsukawa M, Umefune G, Akiyama D, Saito K, Kawahata S, Takahara N, Uchino R, Hamada T, Miyabayashi K, Mohri D, Sasaki T, Kogure H, Yamamoto N, Nakai Y, Koike K
 タイトル      Total cholesterol level for assessing pancreatic insufficiency due to chronic pancreatitis.
 雑誌        Gut Liver 8:563-8 (2014)
 DOI:10.5009/gnl13366
 PMID:17625311 (drug)
 著者        Motoo Y
 タイトル      Antiproteases in the treatment of chronic pancreatitis.
 雑誌        JOP 8:533-7 (2007)
 PMID:17625312 (drug)
 著者        Kitagawa M, Hayakawa T
 タイトル      Antiproteases and the pancreas: basic and clinical update. Conclusion remarks.
 雑誌        JOP 8:538-44 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01680"">H01680</a>",慢性膵炎,"Chronic pancreatitis is a progressive inflammatory disease of the pancreas that will finally result in both exocrine and endocrine insufficiency. Chronic pancreatitis develops gradually and worsens over time, resulting in permanent organ damage. It is usually caused by recurrent episodes of pancreatic necro-inflammation, leading to pancreatic atrophy and dysfunction. It manifests clinically as maldigestion, weight loss, abdominal pain and eventually diabetes. Six major etiologies for chronic pancreatitis have been identified, namely toxic-metabolic (to include alcohol), idiopathic, genetic, autoimmune, recurrent and severe acute pancreatitis, and obstruction. Oral protease inhibitors are currently used as a medical treatment for chronic pancreatitis.",,,,Alcohol and smoking.,,"トレピブトン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01365"">D01365</a>]
 カモスタットメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01766"">D01766</a>]
 ナファモスタットメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01670"">D01670</a>]
 ガベキサートメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01672"">D01672</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00933"">H00933</a> Hereditary pancreatitis.","ICD-11: DC32
 ICD-10: K86.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050500"">D050500</a>
 OMIM: <a href=""https://www.omim.org/entry/167800"">167800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20567557"">20567557</a>
 著者        Banks PA, Conwell DL, Toskes PP
 タイトル      The management of acute and chronic pancreatitis.
 雑誌        Gastroenterol Hepatol (N Y) 6:1-16 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18442214"">18442214</a>
 著者        Frossard JL, Dumonceau JM, Pastor C, Spahr L, Hadengue A
 タイトル      Concomitant autoimmune and genetic pancreatitis leads to severe inflammatory conditions.
 雑誌        World J Gastroenterol 14:2596-8 (2008)
 DOI:<a href=""https://doi.org/10.3748/wjg.14.2596"">10.3748/wjg.14.2596</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25228979"">25228979</a> (marker)
 著者        Hirano K, Saito T, Mizuno S, Tada M, Sasahira N, Isayama H, Matsukawa M, Umefune G, Akiyama D, Saito K, Kawahata S, Takahara N, Uchino R, Hamada T, Miyabayashi K, Mohri D, Sasaki T, Kogure H, Yamamoto N, Nakai Y, Koike K
 タイトル      Total cholesterol level for assessing pancreatic insufficiency due to chronic pancreatitis.
 雑誌        Gut Liver 8:563-8 (2014)
 DOI:<a href=""https://doi.org/10.5009/gnl13366"">10.5009/gnl13366</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17625311"">17625311</a> (drug)
 著者        Motoo Y
 タイトル      Antiproteases in the treatment of chronic pancreatitis.
 雑誌        JOP 8:533-7 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17625312"">17625312</a> (drug)
 著者        Kitagawa M, Hayakawa T
 タイトル      Antiproteases and the pancreas: basic and clinical update. Conclusion remarks.
 雑誌        JOP 8:538-44 (2007)"
H01681,急性膵炎,,,"Acute pancreatitis ranges from a mild, self- limiting disease to a life-threatening condition with multiple organ failure. Abdominal pain is the predominant symptom. Nausea and vomiting may accompany the pain. Patients frequently have a low-grade fever, tachycardia, and hypotension. The most common causes of acute pancreatitis are alcohol abuse and gallstones. The currently accepted pathogenic mechanism includes autodigestion and acute inflammation of the pancreas by the activation of proteases of the pancreas and acute inflammatory cells. Severe acute pancreatitis is defined by the presence of organ failure persisting beyond 48 hour. Organ failure that develops during the early phase is set in motion by the activation of cytokine cascades resulting in systemic inflammatory response syndrome (SIRS). Although effective therapies for acute pancreatitis are still limited, protease inhibitors have been considered to be a potential treatment to inhibit the pancreatic inflammation.",膵疾患,,,,,,"ウリナスタチン [DR:D05183]
 ナファモスタットメシル酸塩 [DR:D01670]
 ガベキサートメシル酸塩 [DR:D01672]",,"ICD-11: DC31
 ICD-10: K85
 MeSH: D019283","PMID:23100216
 著者        Banks PA, Bollen TL, Dervenis C, Gooszen HG, Johnson CD, Sarr MG, Tsiotos GG, Vege SS
 タイトル      Classification of acute pancreatitis--2012: revision of the Atlanta classification and definitions by international consensus.
 雑誌        Gut 62:102-11 (2013)
 DOI:10.1136/gutjnl-2012-302779
 PMID:16374372
 著者        Granger J, Remick D
 タイトル      Acute pancreatitis: models, markers, and mediators.
 雑誌        Shock 24 Suppl 1:45-51 (2005)
 DOI:10.1097/01.shk.0000191413.94461.b0
 PMID:17625305
 著者        Chen CC, Wang SS, Lee FY
 タイトル      Action of antiproteases on the inflammatory response in acute pancreatitis.
 雑誌        JOP 8:488-94 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01681"">H01681</a>",急性膵炎,"Acute pancreatitis ranges from a mild, self- limiting disease to a life-threatening condition with multiple organ failure. Abdominal pain is the predominant symptom. Nausea and vomiting may accompany the pain. Patients frequently have a low-grade fever, tachycardia, and hypotension. The most common causes of acute pancreatitis are alcohol abuse and gallstones. The currently accepted pathogenic mechanism includes autodigestion and acute inflammation of the pancreas by the activation of proteases of the pancreas and acute inflammatory cells. Severe acute pancreatitis is defined by the presence of organ failure persisting beyond 48 hour. Organ failure that develops during the early phase is set in motion by the activation of cytokine cascades resulting in systemic inflammatory response syndrome (SIRS). Although effective therapies for acute pancreatitis are still limited, protease inhibitors have been considered to be a potential treatment to inhibit the pancreatic inflammation.",,,,,,"ウリナスタチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05183"">D05183</a>]
 ナファモスタットメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01670"">D01670</a>]
 ガベキサートメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01672"">D01672</a>]",,"ICD-11: DC31
 ICD-10: K85
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019283"">D019283</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23100216"">23100216</a>
 著者        Banks PA, Bollen TL, Dervenis C, Gooszen HG, Johnson CD, Sarr MG, Tsiotos GG, Vege SS
 タイトル      Classification of acute pancreatitis--2012: revision of the Atlanta classification and definitions by international consensus.
 雑誌        Gut 62:102-11 (2013)
 DOI:<a href=""https://doi.org/10.1136/gutjnl-2012-302779"">10.1136/gutjnl-2012-302779</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16374372"">16374372</a>
 著者        Granger J, Remick D
 タイトル      Acute pancreatitis: models, markers, and mediators.
 雑誌        Shock 24 Suppl 1:45-51 (2005)
 DOI:<a href=""https://doi.org/10.1097/01.shk.0000191413.94461.b0"">10.1097/01.shk.0000191413.94461.b0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17625305"">17625305</a>
 著者        Chen CC, Wang SS, Lee FY
 タイトル      Action of antiproteases on the inflammatory response in acute pancreatitis.
 雑誌        JOP 8:488-94 (2007)"
H01682,"抗利尿ホルモン不適合分泌症候群 (SIADH)
 下位グループ    抗利尿不適合性腎症候群 [DS:H01294]
 上位グループ    ADH 分泌異常症 [DS:H01683]",,,"The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an endocrine disease, characterized by inappropriately concentrated urine, dilutional hyponatremia, and subsequent manifestations of various central nervous system (CNS) symptoms. Though usually transient, SIADH may be chronic. It is often associated with drug use or a lesion in the central nervous system or lung. SIADH is divided into two categories. One is the ectopic ADH syndrome induced by abnormally secreted arginine vasopressin (ADH/AVP) from cancer cells. Another is the morbidity caused by inappropriately secreted ADH from the pituitary gland. In both situations of SIADH, ADH binds to vasopressin V2 receptors (V2Rs) in renal tubules and thereby increasing water reabsorption. SIADH is difficult to distinguish from cerebral salt wasting syndrome (CSWS), another cause of hyponatremia characterized by renal loss of sodium and decreases in extracellular fluid volume during intracranial disorders. SIADH occurs in the setting of euvolemia, without evidence of renal disease or thyroxine or cortisol deficiency. Treatment options for SIADH include fluid restriction, demeclocycline, urea, frusemide and saline infusion, all of which have their limitations. The introduction of the vasopressin-2 receptor antagonists has allowed clinicians to specifically target the underlying pathophysiology of SIADH.",内分泌系疾患,,AVPR2 [HSA:554] [KO:K04228],,,,"トルバプタン [DR:D01213]
 モザバプタン塩酸塩 [DR:D01855]","Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP.
 See also H01294 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD).","ICD-11: 5A60.2
 ICD-10: E22.2
 MeSH: D007177
 OMIM: 300539","PMID:20164215 (marker, drug)
 著者        Sherlock M, Thompson CJ
 タイトル      The syndrome of inappropriate antidiuretic hormone: current and future management options.
 雑誌        Eur J Endocrinol 162 Suppl 1:S13-8 (2010)
 DOI:10.1530/EJE-09-1057
 PMID:21087977 (drug)
 著者        Yamaguchi K, Shijubo N, Kodama T, Mori K, Sugiura T, Kuriyama T, Kawahara M, Shinkai T, Iguchi H, Sakurai M
 タイトル      Clinical implication of the antidiuretic hormone (ADH) receptor antagonist mozavaptan hydrochloride in patients with ectopic ADH syndrome.
 雑誌        Jpn J Clin Oncol 41:148-52 (2011)
 DOI:10.1093/jjco/hyq170
 PMID:15872203
 著者        Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE
 タイトル      Nephrogenic syndrome of inappropriate antidiuresis.
 雑誌        N Engl J Med 352:1884-90 (2005)
 DOI:10.1056/NEJMoa042743","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01682"">H01682</a>","抗利尿ホルモン不適合分泌症候群 (SIADH)
 下位グループ    抗利尿不適合性腎症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01294"">H01294</a>]
 上位グループ    ADH 分泌異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01683"">H01683</a>]","The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an endocrine disease, characterized by inappropriately concentrated urine, dilutional hyponatremia, and subsequent manifestations of various central nervous system (CNS) symptoms. Though usually transient, SIADH may be chronic. It is often associated with drug use or a lesion in the central nervous system or lung. SIADH is divided into two categories. One is the ectopic ADH syndrome induced by abnormally secreted arginine vasopressin (ADH/AVP) from cancer cells. Another is the morbidity caused by inappropriately secreted ADH from the pituitary gland. In both situations of SIADH, ADH binds to vasopressin V2 receptors (V2Rs) in renal tubules and thereby increasing water reabsorption. SIADH is difficult to distinguish from cerebral salt wasting syndrome (CSWS), another cause of hyponatremia characterized by renal loss of sodium and decreases in extracellular fluid volume during intracranial disorders. SIADH occurs in the setting of euvolemia, without evidence of renal disease or thyroxine or cortisol deficiency. Treatment options for SIADH include fluid restriction, demeclocycline, urea, frusemide and saline infusion, all of which have their limitations. The introduction of the vasopressin-2 receptor antagonists has allowed clinicians to specifically target the underlying pathophysiology of SIADH.",,"AVPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:554"">554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04228"">K04228</a>]",,,,"トルバプタン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01213"">D01213</a>]
 モザバプタン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01855"">D01855</a>]","Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01294"">H01294</a> Nephrogenic syndrome of inappropriate antidiuresis (NSIAD).","ICD-11: 5A60.2
 ICD-10: E22.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007177"">D007177</a>
 OMIM: <a href=""https://www.omim.org/entry/300539"">300539</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20164215"">20164215</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Sherlock M, Thompson CJ
 タイトル      The syndrome of inappropriate antidiuretic hormone: current and future management options.
 雑誌        Eur J Endocrinol 162 Suppl 1:S13-8 (2010)
 DOI:<a href=""https://doi.org/10.1530/EJE-09-1057"">10.1530/EJE-09-1057</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21087977"">21087977</a> (drug)
 著者        Yamaguchi K, Shijubo N, Kodama T, Mori K, Sugiura T, Kuriyama T, Kawahara M, Shinkai T, Iguchi H, Sakurai M
 タイトル      Clinical implication of the antidiuretic hormone (ADH) receptor antagonist mozavaptan hydrochloride in patients with ectopic ADH syndrome.
 雑誌        Jpn J Clin Oncol 41:148-52 (2011)
 DOI:<a href=""https://doi.org/10.1093/jjco/hyq170"">10.1093/jjco/hyq170</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15872203"">15872203</a>
 著者        Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE
 タイトル      Nephrogenic syndrome of inappropriate antidiuresis.
 雑誌        N Engl J Med 352:1884-90 (2005)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa042743"">10.1056/NEJMoa042743</a>"
H01683,"ADH 分泌異常症
 下位グループ    神経下垂体性尿崩症 [DS:H00253]
 抗利尿ホルモン不適合分泌症候群 (SIADH) [DS:H01682]",,,"Water imbalance is common among the critically ill. The excessive increases or decreases in body water can be lethal. There are numerous pathologic and iatrogenic causes for water imbalance, the most troublesome being disorders of antidiuretic hormone (ADH) secretion. ADH is also known as arginine vasopressin (AVP). The prime determinant of free water excretion is the regulation of urinary flow by circulating levels of arginine vasopressin (AVP) in plasma. Disorders of water metabolism can be divided into hyperosmolar disorders, in which there is a deficiency of body water relative to body solute, and hypo-osmolar disorders, in which there is an excess of body water relative to body solute. The classical hyperosmolar disorder is diabetes insipidus (DI), and the classical hypo-osmolar disorder is the syndrome of inappropriate antidiuretic hormone secretion (SIADH). DI can result from either inadequate AVP secretion (central or neurogenic DI) or inadequate renal response to AVP (nephrogenic DI). On the other hand, the dilutional hyponatraemia of SIADH develops due to persistent detectable or elevated plasma AVP concentrations.",内分泌代謝疾患,,AVPR2 [HSA:554] [KO:K04228],,,,,,"ICD-11: 5A60 5A61
 ICD-10: E22 E23
 MeSH: D003919 D007177
 OMIM: 125700 300539","PMID:14687585
 著者        Verbalis JG
 タイトル      Disorders of body water homeostasis.
 雑誌        Best Pract Res Clin Endocrinol Metab 17:471-503 (2003)
 DOI:10.1016/S1521-690X(03)00049-6
 PMID:1576035
 著者        Batcheller J
 タイトル      Disorders of antidiuretic hormone secretion.
 雑誌        AACN Clin Issues Crit Care Nurs 3:370-8 (1992)
 DOI:10.4037/15597768-1992-2009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01683"">H01683</a>","ADH 分泌異常症
 下位グループ    神経下垂体性尿崩症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00253"">H00253</a>]
 抗利尿ホルモン不適合分泌症候群 (SIADH) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01682"">H01682</a>]","Water imbalance is common among the critically ill. The excessive increases or decreases in body water can be lethal. There are numerous pathologic and iatrogenic causes for water imbalance, the most troublesome being disorders of antidiuretic hormone (ADH) secretion. ADH is also known as arginine vasopressin (AVP). The prime determinant of free water excretion is the regulation of urinary flow by circulating levels of arginine vasopressin (AVP) in plasma. Disorders of water metabolism can be divided into hyperosmolar disorders, in which there is a deficiency of body water relative to body solute, and hypo-osmolar disorders, in which there is an excess of body water relative to body solute. The classical hyperosmolar disorder is diabetes insipidus (DI), and the classical hypo-osmolar disorder is the syndrome of inappropriate antidiuretic hormone secretion (SIADH). DI can result from either inadequate AVP secretion (central or neurogenic DI) or inadequate renal response to AVP (nephrogenic DI). On the other hand, the dilutional hyponatraemia of SIADH develops due to persistent detectable or elevated plasma AVP concentrations.",,"AVPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:554"">554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04228"">K04228</a>]",,,,,,"ICD-11: 5A60 5A61
 ICD-10: E22 E23
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003919"">D003919</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007177"">D007177</a>
 OMIM: <a href=""https://www.omim.org/entry/125700"">125700</a> <a href=""https://www.omim.org/entry/300539"">300539</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14687585"">14687585</a>
 著者        Verbalis JG
 タイトル      Disorders of body water homeostasis.
 雑誌        Best Pract Res Clin Endocrinol Metab 17:471-503 (2003)
 DOI:<a href=""https://doi.org/10.1016/S1521-690X(03)00049-6"">10.1016/S1521-690X(03)00049-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1576035"">1576035</a>
 著者        Batcheller J
 タイトル      Disorders of antidiuretic hormone secretion.
 雑誌        AACN Clin Issues Crit Care Nurs 3:370-8 (1992)
 DOI:<a href=""https://doi.org/10.4037/15597768-1992-2009"">10.4037/15597768-1992-2009</a>"
H01684,原発性硬化性胆管炎,,,"Primary sclerosing cholangitis (PSC) is a rare progressive disease of the liver characterized by cholestasis and bile duct fibrosis, leading to decreased quality of life, cirrhosis, and the need for liver transplantation within an average of 12 years. The disease occurs in children and adults, and is closely linked with inflammatory bowel disease (IBD), most often ulcerative colitis (UC). The clinical presentation is variable. Typical symptoms include right upper quadrant abdominal discomfort, fatigue, pruritus, and weight loss. The most frequent abnormal physical exam findings are jaundice, hepatomegaly, and splenomegaly. The pathogenesis of PSC remains unclear but hypotheses include genetic factors lymphocyte recruitment and activation, portal bacteraemia, and bile salt toxicity. Ursodeoxycholic acid (UDCA) is widely used for PSC patients and UDCA can lead to improvements in serum hepatobiliary enzymes. UDCA has been tested alone and in combination with corticosteroids or other immunosuppressant agents. However, there is no medical treatment for PSC with enough evidence to show a delay in disease progression, and new therapy is needed.",消化器系疾患,,,,,,,See also H01227 Inflammatory bowel disease (IBD) and H01466 ulcerative colitis (UC).,"ICD-11: DB96.2
 ICD-10: K83.0
 MeSH: D015209
 OMIM: 613806","PMID:26357617 (marker)
 著者        Saadi M, Yu C, Othman MO
 タイトル      A Review of the Challenges Associated with the Diagnosis and Therapy of Primary Sclerosing Cholangitis.
 雑誌        J Clin Transl Hepatol 2:45-52 (2014)
 DOI:10.14218/JCTH.2013.00021
 PMID:26925200 (drug)
 著者        Nayagam JS, Pereira SP, Devlin J, Harrison PM, Joshi D
 タイトル      Controversies in the management of primary sclerosing cholangitis.
 雑誌        World J Hepatol 8:265-72 (2016)
 DOI:10.4254/wjh.v8.i5.265
 PMID:20127368 (drug)
 著者        Mizuno S, Hirano K, Tada M, Yamamoto K, Yashima Y, Yagioka H, Kawakubo K, Ito Y, Kogure H, Sasaki T, Arizumi T, Togawa O, Matsubara S, Nakai Y, Sasahira N, Tsujino T, Isayama H, Kawabe T, Omata M, Koike K
 タイトル      Bezafibrate for the treatment of primary sclerosing cholangitis.
 雑誌        J Gastroenterol 45:758-62 (2010)
 DOI:10.1007/s00535-010-0204-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01684"">H01684</a>",原発性硬化性胆管炎,"Primary sclerosing cholangitis (PSC) is a rare progressive disease of the liver characterized by cholestasis and bile duct fibrosis, leading to decreased quality of life, cirrhosis, and the need for liver transplantation within an average of 12 years. The disease occurs in children and adults, and is closely linked with inflammatory bowel disease (IBD), most often ulcerative colitis (UC). The clinical presentation is variable. Typical symptoms include right upper quadrant abdominal discomfort, fatigue, pruritus, and weight loss. The most frequent abnormal physical exam findings are jaundice, hepatomegaly, and splenomegaly. The pathogenesis of PSC remains unclear but hypotheses include genetic factors lymphocyte recruitment and activation, portal bacteraemia, and bile salt toxicity. Ursodeoxycholic acid (UDCA) is widely used for PSC patients and UDCA can lead to improvements in serum hepatobiliary enzymes. UDCA has been tested alone and in combination with corticosteroids or other immunosuppressant agents. However, there is no medical treatment for PSC with enough evidence to show a delay in disease progression, and new therapy is needed.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01227"">H01227</a> Inflammatory bowel disease (IBD) and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01466"">H01466</a> ulcerative colitis (UC).","ICD-11: DB96.2
 ICD-10: K83.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015209"">D015209</a>
 OMIM: <a href=""https://www.omim.org/entry/613806"">613806</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26357617"">26357617</a> (marker)
 著者        Saadi M, Yu C, Othman MO
 タイトル      A Review of the Challenges Associated with the Diagnosis and Therapy of Primary Sclerosing Cholangitis.
 雑誌        J Clin Transl Hepatol 2:45-52 (2014)
 DOI:<a href=""https://doi.org/10.14218/JCTH.2013.00021"">10.14218/JCTH.2013.00021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26925200"">26925200</a> (drug)
 著者        Nayagam JS, Pereira SP, Devlin J, Harrison PM, Joshi D
 タイトル      Controversies in the management of primary sclerosing cholangitis.
 雑誌        World J Hepatol 8:265-72 (2016)
 DOI:<a href=""https://doi.org/10.4254/wjh.v8.i5.265"">10.4254/wjh.v8.i5.265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20127368"">20127368</a> (drug)
 著者        Mizuno S, Hirano K, Tada M, Yamamoto K, Yashima Y, Yagioka H, Kawakubo K, Ito Y, Kogure H, Sasaki T, Arizumi T, Togawa O, Matsubara S, Nakai Y, Sasahira N, Tsujino T, Isayama H, Kawabe T, Omata M, Koike K
 タイトル      Bezafibrate for the treatment of primary sclerosing cholangitis.
 雑誌        J Gastroenterol 45:758-62 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00535-010-0204-x"">10.1007/s00535-010-0204-x</a>"
H01685,自己免疫性肝炎,,,"Autoimmune hepatitis (AIH) is a chronic inflammatory liver disorder with an etiology that remains unclear. The pathogenesis may be a result of alterations in immune tolerance, a genetic predisposition and environmental conditions, which in collaboration induce a T-cell-mediated attack on liver antigens, leading to necro-inflammation and liver damage. AIH has marked female predilection. AIH can present at all ages, but the two peak ages of incidence are in childhood or adolescence and at around 40 years of age. Trademark biochemical/serological characteristics of AIH are elevated aminotransferase levels, positivity for autoantibodies and increased IgG. A histological picture of interface hepatitis is typical of AIH. The value of immunosuppressive therapy with glucocorticoids, alone or in combination with azathioprine, was well documented in numerous studies of AIH.",免疫系疾患; 消化器系疾患,,,,,,アザチオプリン [DR:D00238],Patients seropositive for ANA and/or anti-smooth muscle autoantibodies (SMA) have AIH type-1 whereas those presenting with positivity for anti-liver kidney type-1 autoantibody (anti-LKM-1) or anti-liver cytosol type-1 (anti-LC-1) have AIH type-2.,"ICD-11: DB96.0
 ICD-10: K75.4
 MeSH: D019693","PMID:27729952 (marker)
 著者        Liberal R, Grant CR
 タイトル      Cirrhosis and autoimmune liver disease: Current understanding.
 雑誌        World J Hepatol 8:1157-1168 (2016)
 DOI:10.4254/wjh.v8.i28.1157
 PMID:15954109 (drug)
 著者        Feld JJ, Dinh H, Arenovich T, Marcus VA, Wanless IR, Heathcote EJ
 タイトル      Autoimmune hepatitis: effect of symptoms and cirrhosis on natural history and outcome.
 雑誌        Hepatology 42:53-62 (2005)
 DOI:10.1002/hep.20732","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01685"">H01685</a>",自己免疫性肝炎,"Autoimmune hepatitis (AIH) is a chronic inflammatory liver disorder with an etiology that remains unclear. The pathogenesis may be a result of alterations in immune tolerance, a genetic predisposition and environmental conditions, which in collaboration induce a T-cell-mediated attack on liver antigens, leading to necro-inflammation and liver damage. AIH has marked female predilection. AIH can present at all ages, but the two peak ages of incidence are in childhood or adolescence and at around 40 years of age. Trademark biochemical/serological characteristics of AIH are elevated aminotransferase levels, positivity for autoantibodies and increased IgG. A histological picture of interface hepatitis is typical of AIH. The value of immunosuppressive therapy with glucocorticoids, alone or in combination with azathioprine, was well documented in numerous studies of AIH.",,,,,,"アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]",Patients seropositive for ANA and/or anti-smooth muscle autoantibodies (SMA) have AIH type-1 whereas those presenting with positivity for anti-liver kidney type-1 autoantibody (anti-LKM-1) or anti-liver cytosol type-1 (anti-LC-1) have AIH type-2.,"ICD-11: DB96.0
 ICD-10: K75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019693"">D019693</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27729952"">27729952</a> (marker)
 著者        Liberal R, Grant CR
 タイトル      Cirrhosis and autoimmune liver disease: Current understanding.
 雑誌        World J Hepatol 8:1157-1168 (2016)
 DOI:<a href=""https://doi.org/10.4254/wjh.v8.i28.1157"">10.4254/wjh.v8.i28.1157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15954109"">15954109</a> (drug)
 著者        Feld JJ, Dinh H, Arenovich T, Marcus VA, Wanless IR, Heathcote EJ
 タイトル      Autoimmune hepatitis: effect of symptoms and cirrhosis on natural history and outcome.
 雑誌        Hepatology 42:53-62 (2005)
 DOI:<a href=""https://doi.org/10.1002/hep.20732"">10.1002/hep.20732</a>"
H01686,"特発性門脈圧亢進症;
 非硬変症性門脈線維症;
 バンチ症候群",,,"Idiopathic portal hypertension (IPH) is a disorder generally classified as a noncirrhotic portal hypertension of unknown etiology, and is clinically characterized by portal hypertension, splenomegaly, and pancytopenia. The principal pathologic changes of IPH are devastation of the intrahepatic terminal portal radicles with considerable portal fibrosis and secondary atrophy of the liver parenchyma that follows portal thrombosis. The incidence varies considerably with the country. In contrast to its high prevalence in India, IPH is comparatively a rare disorder in Western countries. Middle-aged women are more prone to IPH in Japan. IPH usually suggests a benign prognosis, but sometimes is complicated with severe hemorrhage due to ruptured esophageal varices, or massive splenomegaly. It is mainly managed by supportive treatment such as endoscopic, radiological and/or surgical management for esophageal varices and/or splenomegaly. The definite etiology of IPH is still uncertain, but there are several theories on the potential pathogenesis of IPH. These theories include immunological disorders, infections, and genetic variants.",肝疾患,,,,,,,"Japanese study groups usually use the term of ""IPH"", whereas Indian researchers prefer to use the term non-cirrhotic portal fibrosis for the name of this disorder. Groups in Western countries have proposed terms such as nodular regenerative hyperplasia (NRH), hepatoportal sclerosis, or Idiopathic noncirrhotic portal hypertension.","ICD-11: DB98.70
 ICD-10: K76.6
 MeSH: C537903","PMID:25343110 (marker)
 著者        Tanaka T, Sugawara Y, Kokudo N
 タイトル      The current clinical aspects of idiopathic portal hypertension.
 雑誌        Intractable Rare Dis Res 2:94-7 (2013)
 DOI:10.5582/irdr.2013.v2.3.94
 PMID:11928079
 著者        Okudaira M, Ohbu M, Okuda K
 タイトル      Idiopathic portal hypertension and its pathology.
 雑誌        Semin Liver Dis 22:59-72 (2002)
 DOI:10.1055/s-2002-23207","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01686"">H01686</a>","特発性門脈圧亢進症;
 非硬変症性門脈線維症;
 バンチ症候群","Idiopathic portal hypertension (IPH) is a disorder generally classified as a noncirrhotic portal hypertension of unknown etiology, and is clinically characterized by portal hypertension, splenomegaly, and pancytopenia. The principal pathologic changes of IPH are devastation of the intrahepatic terminal portal radicles with considerable portal fibrosis and secondary atrophy of the liver parenchyma that follows portal thrombosis. The incidence varies considerably with the country. In contrast to its high prevalence in India, IPH is comparatively a rare disorder in Western countries. Middle-aged women are more prone to IPH in Japan. IPH usually suggests a benign prognosis, but sometimes is complicated with severe hemorrhage due to ruptured esophageal varices, or massive splenomegaly. It is mainly managed by supportive treatment such as endoscopic, radiological and/or surgical management for esophageal varices and/or splenomegaly. The definite etiology of IPH is still uncertain, but there are several theories on the potential pathogenesis of IPH. These theories include immunological disorders, infections, and genetic variants.",,,,,,,"Japanese study groups usually use the term of ""IPH"", whereas Indian researchers prefer to use the term non-cirrhotic portal fibrosis for the name of this disorder. Groups in Western countries have proposed terms such as nodular regenerative hyperplasia (NRH), hepatoportal sclerosis, or Idiopathic noncirrhotic portal hypertension.","ICD-11: DB98.70
 ICD-10: K76.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537903"">C537903</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25343110"">25343110</a> (marker)
 著者        Tanaka T, Sugawara Y, Kokudo N
 タイトル      The current clinical aspects of idiopathic portal hypertension.
 雑誌        Intractable Rare Dis Res 2:94-7 (2013)
 DOI:<a href=""https://doi.org/10.5582/irdr.2013.v2.3.94"">10.5582/irdr.2013.v2.3.94</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11928079"">11928079</a>
 著者        Okudaira M, Ohbu M, Okuda K
 タイトル      Idiopathic portal hypertension and its pathology.
 雑誌        Semin Liver Dis 22:59-72 (2002)
 DOI:<a href=""https://doi.org/10.1055/s-2002-23207"">10.1055/s-2002-23207</a>"
H01687,肝外門脈閉塞症,,,"Extrahepatic portal vein obstruction (EHPVO) is a vascular disorder of liver characterized by obstruction and cavernomatous transformation of portal vein with or without the involvement of intrahepatic portal vein, splenic vein, or superior mesenteric vein. The most characteristic imaging manifestation is the formation of porto-portal collaterals that allow hepatopetal flow. Gradually there is organization and temporal evolution of thrombus with formation of portal collaterals termed ""cavernoma"" aiming to bypass the obstructed portal vein. Patients generally present in childhood with multiple episodes of variceal bleed and EHPVO is the predominant cause of paediatric portal hypertension (PHT) in developing countries.",循環器系疾患; 消化器系疾患,,,,,,,See also H01686 Idiopathic portal hypertension,"ICD-11: DB98.3
 ICD-10: I81","PMID:27358683
 著者        Pargewar SS, Desai SN, Rajesh S, Singh VP, Arora A, Mukund A
 タイトル      Imaging and radiological interventions in extra-hepatic portal vein obstruction.
 雑誌        World J Radiol 8:556-70 (2016)
 DOI:10.4329/wjr.v8.i6.556
 PMID:26111208
 著者        Arora A, Sarin SK
 タイトル      Multimodality imaging of primary extrahepatic portal vein obstruction (EHPVO): what every radiologist should know.
 雑誌        Br J Radiol 88:20150008 (2015)
 DOI:10.1259/bjr.20150008
 PMID:26021771
 著者        Wani ZA, Bhat RA, Bhadoria AS, Maiwall R
 タイトル      Extrahepatic portal vein obstruction and portal vein thrombosis in special situations: Need for a new classification.
 雑誌        Saudi J Gastroenterol 21:129-38 (2015)
 DOI:10.4103/1319-3767.157550","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01687"">H01687</a>",肝外門脈閉塞症,"Extrahepatic portal vein obstruction (EHPVO) is a vascular disorder of liver characterized by obstruction and cavernomatous transformation of portal vein with or without the involvement of intrahepatic portal vein, splenic vein, or superior mesenteric vein. The most characteristic imaging manifestation is the formation of porto-portal collaterals that allow hepatopetal flow. Gradually there is organization and temporal evolution of thrombus with formation of portal collaterals termed ""cavernoma"" aiming to bypass the obstructed portal vein. Patients generally present in childhood with multiple episodes of variceal bleed and EHPVO is the predominant cause of paediatric portal hypertension (PHT) in developing countries.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01686"">H01686</a> Idiopathic portal hypertension","ICD-11: DB98.3
 ICD-10: I81","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27358683"">27358683</a>
 著者        Pargewar SS, Desai SN, Rajesh S, Singh VP, Arora A, Mukund A
 タイトル      Imaging and radiological interventions in extra-hepatic portal vein obstruction.
 雑誌        World J Radiol 8:556-70 (2016)
 DOI:<a href=""https://doi.org/10.4329/wjr.v8.i6.556"">10.4329/wjr.v8.i6.556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26111208"">26111208</a>
 著者        Arora A, Sarin SK
 タイトル      Multimodality imaging of primary extrahepatic portal vein obstruction (EHPVO): what every radiologist should know.
 雑誌        Br J Radiol 88:20150008 (2015)
 DOI:<a href=""https://doi.org/10.1259/bjr.20150008"">10.1259/bjr.20150008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26021771"">26021771</a>
 著者        Wani ZA, Bhat RA, Bhadoria AS, Maiwall R
 タイトル      Extrahepatic portal vein obstruction and portal vein thrombosis in special situations: Need for a new classification.
 雑誌        Saudi J Gastroenterol 21:129-38 (2015)
 DOI:<a href=""https://doi.org/10.4103/1319-3767.157550"">10.4103/1319-3767.157550</a>"
H01688,急速進行性糸球体腎炎,,,"Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and infiltration of inflammatory cells lead to glomerular crescent formation and disruption of the specialized microvascular network in the glomerulus. This causes hematuria, albuminuria and loss of renal function. From an immunopathologic standpoint, primary RPGN is divided into pauci-immune GN (PICG), anti-glomerular basement membrane antibody (anti-GBM) GN, and immune complex GN. PIGN, the most common etiology of primary RPGN, refers to a necrotizing glomerulonephritis with few or no immune deposits by immunofluorescence or electron microscopy. Approximately 90% of patients with PICG have circulating ANCA antibodies, leading to the systemic small vessel vasculitis such as granulomatosis with polyangiitis (GPA). Corticosteroids and cyclophosphamide are the first-line treatment, but infection is the most common cause of death of RPGN patients. Several new treatment strategies, such as leukocytaphereis (LCAP) and intravenous immunoglobulin (IVIg), have become available and these treatments have made it possible to treat high-risk RPGN patients without inducing serious immunosuppressive states.",泌尿器系疾患,,,,,,,See also H01655 Wegener's granulomatosis,"ICD-11: GB40
 ICD-10: N01.9
 MeSH: C538458","PMID:26798468
 著者        Cheungpasitporn W, Zacharek CC, Fervenza FC, Cornell LD, Sethi S, Herrera Hernandez LP, Nasr SH, Alexander MP
 タイトル      Rapidly progressive glomerulonephritis due to coexistent anti-glomerular basement membrane disease and fibrillary glomerulonephritis.
 雑誌        Clin Kidney J 9:97-101 (2016)
 DOI:10.1093/ckj/sfv126
 PMID:21946538
 著者        Bollee G, Flamant M, Schordan S, Fligny C, Rumpel E, Milon M, Schordan E, Sabaa N, Vandermeersch S, Galaup A, Rodenas A, Casal I, Sunnarborg SW, Salant DJ, Kopp JB, Threadgill DW, Quaggin SE, Dussaule JC, Germain S, Mesnard L, Endlich K, Boucheix C, Belenfant X, Callard P, Endlich N, Tharaux PL
 タイトル      Epidermal growth factor receptor promotes glomerular injury and renal failure in rapidly progressive crescentic glomerulonephritis.
 雑誌        Nat Med 17:1242-50 (2011)
 DOI:10.1038/nm.2491","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01688"">H01688</a>",急速進行性糸球体腎炎,"Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and infiltration of inflammatory cells lead to glomerular crescent formation and disruption of the specialized microvascular network in the glomerulus. This causes hematuria, albuminuria and loss of renal function. From an immunopathologic standpoint, primary RPGN is divided into pauci-immune GN (PICG), anti-glomerular basement membrane antibody (anti-GBM) GN, and immune complex GN. PIGN, the most common etiology of primary RPGN, refers to a necrotizing glomerulonephritis with few or no immune deposits by immunofluorescence or electron microscopy. Approximately 90% of patients with PICG have circulating ANCA antibodies, leading to the systemic small vessel vasculitis such as granulomatosis with polyangiitis (GPA). Corticosteroids and cyclophosphamide are the first-line treatment, but infection is the most common cause of death of RPGN patients. Several new treatment strategies, such as leukocytaphereis (LCAP) and intravenous immunoglobulin (IVIg), have become available and these treatments have made it possible to treat high-risk RPGN patients without inducing serious immunosuppressive states.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01655"">H01655</a> Wegener's granulomatosis","ICD-11: GB40
 ICD-10: N01.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538458"">C538458</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26798468"">26798468</a>
 著者        Cheungpasitporn W, Zacharek CC, Fervenza FC, Cornell LD, Sethi S, Herrera Hernandez LP, Nasr SH, Alexander MP
 タイトル      Rapidly progressive glomerulonephritis due to coexistent anti-glomerular basement membrane disease and fibrillary glomerulonephritis.
 雑誌        Clin Kidney J 9:97-101 (2016)
 DOI:<a href=""https://doi.org/10.1093/ckj/sfv126"">10.1093/ckj/sfv126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21946538"">21946538</a>
 著者        Bollee G, Flamant M, Schordan S, Fligny C, Rumpel E, Milon M, Schordan E, Sabaa N, Vandermeersch S, Galaup A, Rodenas A, Casal I, Sunnarborg SW, Salant DJ, Kopp JB, Threadgill DW, Quaggin SE, Dussaule JC, Germain S, Mesnard L, Endlich K, Boucheix C, Belenfant X, Callard P, Endlich N, Tharaux PL
 タイトル      Epidermal growth factor receptor promotes glomerular injury and renal failure in rapidly progressive crescentic glomerulonephritis.
 雑誌        Nat Med 17:1242-50 (2011)
 DOI:<a href=""https://doi.org/10.1038/nm.2491"">10.1038/nm.2491</a>"
H01689,フィッシャー症候群,,,"Fisher syndrome is a variant of the Guillain- Barre syndrome (GBS) and its classical clinical triad consists of ophthalmoplegia, ataxia, and areflexia. It is a relatively rare neurological disorder, accounting for approximately 5% of acute inflammatory polyneuropathies. This disease is an immune-mediated condition and specific anti-ganglioside antibodies, especially IgG anti-GQ1b antibodies, are found in over 80% of the patients. Campylobacter and Haemophilus influenzae have been reported as infectious agents prior to the onset of Fisher syndrome. It has been reported that the median period required for the disappearance of ataxia was about 1 month, without therapy.",免疫系疾患; 神経系疾患,,,,"Influenza bacilli
 Campylobacter jejuni",,,See also H01436 Guillain-Barre syndrome,"ICD-11: 8C01.0
 ICD-10: G61.0
 MeSH: D019846","PMID:27239355
 著者        Dagklis IE, Papagiannopoulos S, Theodoridou V, Kazis D, Argyropoulou O, Bostantjopoulou S
 タイトル      Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?
 雑誌        Case Rep Neurol Med 2016:3431849 (2016)
 DOI:10.1155/2016/3431849
 PMID:21104459 (env_factor)
 著者        Mori M, Kuwabara S
 タイトル      Fisher syndrome.
 雑誌        Curr Treat Options Neurol 13:71-8 (2011)
 DOI:10.1007/s11940-010-0103-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01689"">H01689</a>",フィッシャー症候群,"Fisher syndrome is a variant of the Guillain- Barre syndrome (GBS) and its classical clinical triad consists of ophthalmoplegia, ataxia, and areflexia. It is a relatively rare neurological disorder, accounting for approximately 5% of acute inflammatory polyneuropathies. This disease is an immune-mediated condition and specific anti-ganglioside antibodies, especially IgG anti-GQ1b antibodies, are found in over 80% of the patients. Campylobacter and Haemophilus influenzae have been reported as infectious agents prior to the onset of Fisher syndrome. It has been reported that the median period required for the disappearance of ataxia was about 1 month, without therapy.",,,,"Influenza bacilli
 Campylobacter jejuni",,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01436"">H01436</a> Guillain-Barre syndrome","ICD-11: 8C01.0
 ICD-10: G61.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019846"">D019846</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27239355"">27239355</a>
 著者        Dagklis IE, Papagiannopoulos S, Theodoridou V, Kazis D, Argyropoulou O, Bostantjopoulou S
 タイトル      Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?
 雑誌        Case Rep Neurol Med 2016:3431849 (2016)
 DOI:<a href=""https://doi.org/10.1155/2016/3431849"">10.1155/2016/3431849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21104459"">21104459</a> (env_factor)
 著者        Mori M, Kuwabara S
 タイトル      Fisher syndrome.
 雑誌        Curr Treat Options Neurol 13:71-8 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11940-010-0103-8"">10.1007/s11940-010-0103-8</a>"
H01690,硬化性萎縮性苔癬,,,"Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatitis affecting primarily vulvar, perianal and perineal skin. Extragenital lichen sclerosus is most common on the neck, shoulders, and upper portion of the trunk. It is generally asymptomatic or is occasionally pruritic and presents as flat, white, polygonal papules and atrophic white plaques. It is primarily seen in postmenopausal women, but also men and children can be affected. The aetiology is not clearly established, although there is a strong association with autoimmune diseases. Morphea may coexist with LSA. Standard treatment includes topical corticosteroid and calcineurin inhibitors, such as tacrolimus. The association between LSA and squamous cell carcinoma (SCC) is confirmed and has been described chiefly in females. The risk of SCC of the vulva has been estimated to about 5% in women with LSA.",皮膚と軟部組織の疾患,,,,,,,See also H01493 Localized Scleroderma.,"ICD-11: EB60
 ICD-10: L90.0
 MeSH: D008011
 OMIM: 151590","PMID:26500867
 著者        Diwan NG, Nair PA
 タイトル      Extragenital lichen sclerosus et atrophicus along the lines of Blaschko.
 雑誌        Indian Dermatol Online J 6:342-4 (2015)
 DOI:10.4103/2229-5178.164486
 PMID:24470666
 著者        Kar BR, Dash K
 タイトル      Co-existence of Lichen Sclerosus et Atrophicus and Morphoea Along Lines of Blaschko.
 雑誌        Indian J Dermatol 59:77-9 (2014)
 DOI:10.4103/0019-5154.123507
 PMID:24549239
 著者        Kantere D, Lowhagen GB, Alvengren G, Maneskold A, Gillstedt M, Tunback P
 タイトル      The clinical spectrum of lichen sclerosus in male patients - a retrospective study.
 雑誌        Acta Derm Venereol 94:542-6 (2014)
 DOI:10.2340/00015555-1797","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01690"">H01690</a>",硬化性萎縮性苔癬,"Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatitis affecting primarily vulvar, perianal and perineal skin. Extragenital lichen sclerosus is most common on the neck, shoulders, and upper portion of the trunk. It is generally asymptomatic or is occasionally pruritic and presents as flat, white, polygonal papules and atrophic white plaques. It is primarily seen in postmenopausal women, but also men and children can be affected. The aetiology is not clearly established, although there is a strong association with autoimmune diseases. Morphea may coexist with LSA. Standard treatment includes topical corticosteroid and calcineurin inhibitors, such as tacrolimus. The association between LSA and squamous cell carcinoma (SCC) is confirmed and has been described chiefly in females. The risk of SCC of the vulva has been estimated to about 5% in women with LSA.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01493"">H01493</a> Localized Scleroderma.","ICD-11: EB60
 ICD-10: L90.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008011"">D008011</a>
 OMIM: <a href=""https://www.omim.org/entry/151590"">151590</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26500867"">26500867</a>
 著者        Diwan NG, Nair PA
 タイトル      Extragenital lichen sclerosus et atrophicus along the lines of Blaschko.
 雑誌        Indian Dermatol Online J 6:342-4 (2015)
 DOI:<a href=""https://doi.org/10.4103/2229-5178.164486"">10.4103/2229-5178.164486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24470666"">24470666</a>
 著者        Kar BR, Dash K
 タイトル      Co-existence of Lichen Sclerosus et Atrophicus and Morphoea Along Lines of Blaschko.
 雑誌        Indian J Dermatol 59:77-9 (2014)
 DOI:<a href=""https://doi.org/10.4103/0019-5154.123507"">10.4103/0019-5154.123507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24549239"">24549239</a>
 著者        Kantere D, Lowhagen GB, Alvengren G, Maneskold A, Gillstedt M, Tunback P
 タイトル      The clinical spectrum of lichen sclerosus in male patients - a retrospective study.
 雑誌        Acta Derm Venereol 94:542-6 (2014)
 DOI:<a href=""https://doi.org/10.2340/00015555-1797"">10.2340/00015555-1797</a>"
H01691,腎血管筋脂肪腫,,,"Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins tuberin and hamartin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1.",泌尿器系疾患,,"TSC1 (mutation) [HSA:7248] [KO:K07206]
 TSC2 (mutation) [HSA:7249] [KO:K07207]",,,,エベロリムス [DR:D02714],See also H00915 Tuberous sclerosis complex (TSC),"ICD-11: 2F35
 ICD-10: D30.0
 MeSH: D018207","PMID:26612197 (gene, drug)
 著者        Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB
 タイトル      Update on the Diagnosis and Management of Renal Angiomyolipoma.
 雑誌        J Urol 195:834-46 (2016)
 DOI:10.1016/j.juro.2015.07.126
 PMID:23194120
 著者        Lienert AR, Nicol D
 タイトル      Renal angiomyolipoma.
 雑誌        BJU Int 110 Suppl 4:25-7 (2012)
 DOI:10.1111/j.1464-410X.2012.11618.x
 PMID:26873836
 著者        Bhatt JR, Richard PO, Kim NS, Finelli A, Manickavachagam K, Legere L, Evans A, Pei Y, Sykes J, Jhaveri K, Jewett MA
 タイトル      Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs &gt;4cm Can Be Offered Active Surveillance as an Initial Management Strategy.
 雑誌        Eur Urol 70:85-90 (2016)
 DOI:10.1016/j.eururo.2016.01.048
 PMID:24170533 (drug)
 著者        Coombs EJ
 タイトル      Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas.
 雑誌        J Am Assoc Nurse Pract 25:588-96 (2013)
 DOI:10.1002/2327-6924.12081
 PMID:21949787
 著者        Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ
 タイトル      Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
 雑誌        PLoS One 6:e24919 (2011)
 DOI:10.1371/journal.pone.0024919","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01691"">H01691</a>",腎血管筋脂肪腫,"Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins tuberin and hamartin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1.",,"TSC1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7248"">7248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07206"">K07206</a>]
 TSC2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7249"">7249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07207"">K07207</a>]",,,,"エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915"">H00915</a> Tuberous sclerosis complex (TSC)","ICD-11: 2F35
 ICD-10: D30.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018207"">D018207</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26612197"">26612197</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB
 タイトル      Update on the Diagnosis and Management of Renal Angiomyolipoma.
 雑誌        J Urol 195:834-46 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.juro.2015.07.126"">10.1016/j.juro.2015.07.126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23194120"">23194120</a>
 著者        Lienert AR, Nicol D
 タイトル      Renal angiomyolipoma.
 雑誌        BJU Int 110 Suppl 4:25-7 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1464-410X.2012.11618.x"">10.1111/j.1464-410X.2012.11618.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26873836"">26873836</a>
 著者        Bhatt JR, Richard PO, Kim NS, Finelli A, Manickavachagam K, Legere L, Evans A, Pei Y, Sykes J, Jhaveri K, Jewett MA
 タイトル      Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs &gt;4cm Can Be Offered Active Surveillance as an Initial Management Strategy.
 雑誌        Eur Urol 70:85-90 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.eururo.2016.01.048"">10.1016/j.eururo.2016.01.048</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24170533"">24170533</a> (drug)
 著者        Coombs EJ
 タイトル      Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas.
 雑誌        J Am Assoc Nurse Pract 25:588-96 (2013)
 DOI:<a href=""https://doi.org/10.1002/2327-6924.12081"">10.1002/2327-6924.12081</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21949787"">21949787</a>
 著者        Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ
 タイトル      Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
 雑誌        PLoS One 6:e24919 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0024919"">10.1371/journal.pone.0024919</a>"
H01692,上衣下巨細胞性星細胞腫,,,"Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have demonstrated that mTOR inhibitors can induce regression of SEGA in patients with TSC, providing a viable alternative to surgical removal.",神経系疾患,,"TSC1 (mutation) [HSA:7248] [KO:K07206]
 TSC2 (mutation) [HSA:7249] [KO:K07207]",,,,エベロリムス [DR:D02714],See also H00915 Tuberous sclerosis complex (TSC),"ICD-11: 2A00.0Y
 ICD-10: D43.2
 MeSH: D001254","PMID:22562196 (gene, drug)
 著者        Beaumont TL, Limbrick DD, Smyth MD
 タイトル      Advances in the management of subependymal giant cell astrocytoma.
 雑誌        Childs Nerv Syst 28:963-8 (2012)
 DOI:10.1007/s00381-012-1785-x
 PMID:21047224 (gene, drug)
 著者        Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN
 タイトル      Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.
 雑誌        N Engl J Med 363:1801-11 (2010)
 DOI:10.1056/NEJMoa1001671
 PMID:24143074 (gene, drug)
 著者        Franz DN
 タイトル      Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
 雑誌        Biologics 7:211-21 (2013)
 DOI:10.2147/BTT.S25095
 PMID:23391693 (gene, drug)
 著者        Jozwiak S, Nabbout R, Curatolo P
 タイトル      Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.
 雑誌        Eur J Paediatr Neurol 17:348-52 (2013)
 DOI:10.1016/j.ejpn.2012.12.008
 PMID:25557360 (gene, drug)
 著者        Trelinska J, Dachowska I, Kotulska K, Baranska D, Fendler W, Jozwiak S, Mlynarski W
 タイトル      Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.
 雑誌        Pediatr Blood Cancer 62:616-21 (2015)
 DOI:10.1002/pbc.25368","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01692"">H01692</a>",上衣下巨細胞性星細胞腫,"Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have demonstrated that mTOR inhibitors can induce regression of SEGA in patients with TSC, providing a viable alternative to surgical removal.",,"TSC1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7248"">7248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07206"">K07206</a>]
 TSC2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7249"">7249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07207"">K07207</a>]",,,,"エベロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02714"">D02714</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915"">H00915</a> Tuberous sclerosis complex (TSC)","ICD-11: 2A00.0Y
 ICD-10: D43.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001254"">D001254</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22562196"">22562196</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Beaumont TL, Limbrick DD, Smyth MD
 タイトル      Advances in the management of subependymal giant cell astrocytoma.
 雑誌        Childs Nerv Syst 28:963-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00381-012-1785-x"">10.1007/s00381-012-1785-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21047224"">21047224</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN
 タイトル      Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.
 雑誌        N Engl J Med 363:1801-11 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1001671"">10.1056/NEJMoa1001671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24143074"">24143074</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Franz DN
 タイトル      Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
 雑誌        Biologics 7:211-21 (2013)
 DOI:<a href=""https://doi.org/10.2147/BTT.S25095"">10.2147/BTT.S25095</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23391693"">23391693</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Jozwiak S, Nabbout R, Curatolo P
 タイトル      Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.
 雑誌        Eur J Paediatr Neurol 17:348-52 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2012.12.008"">10.1016/j.ejpn.2012.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25557360"">25557360</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Trelinska J, Dachowska I, Kotulska K, Baranska D, Fendler W, Jozwiak S, Mlynarski W
 タイトル      Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.
 雑誌        Pediatr Blood Cancer 62:616-21 (2015)
 DOI:<a href=""https://doi.org/10.1002/pbc.25368"">10.1002/pbc.25368</a>"
H01693,"好酸球性筋膜炎;
 びまん性筋膜炎",,,"Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied by peripheral blood eosinophilia. The disease is present almost equally in both sexes. The etiology of EF remains uncertain. Hematological, infectious, and autoimmune diseases, as well as intense physical exertion, chemical compounds, drugs, solid neoplasms, and physical factors have been proposed as possible triggers and associated factors. Some researchers have proposed an aberrant immune response as the main pathogenetic mechanism. Some EF patients improve spontaneously without treatment, but in those who do not, glucocorticoids are the mainstay therapy. Methotrexate at low doses is probably the most favored second-line treatment, especially in patients with morphea-like skin lesions.",筋骨格疾患,,,,,,,See also H01493 Localized Scleroderma.,"ICD-11: 4A43.4
 ICD-10: M35.4
 MeSH: C562487
 OMIM: 226350","PMID:24424187
 著者        Pinal-Fernandez I, Selva-O' Callaghan A, Grau JM
 タイトル      Diagnosis and classification of eosinophilic fasciitis.
 雑誌        Autoimmun Rev 13:379-82 (2014)
 DOI:10.1016/j.autrev.2014.01.019
 PMID:27407276
 著者        Oliveira M, Patinha F, Marinho A
 タイトル      Eosinophilic fasciitis after parasite infection.
 雑誌        Reumatologia 54:38-41 (2016)
 DOI:10.5114/reum.2016.58761","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01693"">H01693</a>","好酸球性筋膜炎;
 びまん性筋膜炎","Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied by peripheral blood eosinophilia. The disease is present almost equally in both sexes. The etiology of EF remains uncertain. Hematological, infectious, and autoimmune diseases, as well as intense physical exertion, chemical compounds, drugs, solid neoplasms, and physical factors have been proposed as possible triggers and associated factors. Some researchers have proposed an aberrant immune response as the main pathogenetic mechanism. Some EF patients improve spontaneously without treatment, but in those who do not, glucocorticoids are the mainstay therapy. Methotrexate at low doses is probably the most favored second-line treatment, especially in patients with morphea-like skin lesions.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01493"">H01493</a> Localized Scleroderma.","ICD-11: 4A43.4
 ICD-10: M35.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562487"">C562487</a>
 OMIM: <a href=""https://www.omim.org/entry/226350"">226350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24424187"">24424187</a>
 著者        Pinal-Fernandez I, Selva-O' Callaghan A, Grau JM
 タイトル      Diagnosis and classification of eosinophilic fasciitis.
 雑誌        Autoimmun Rev 13:379-82 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.01.019"">10.1016/j.autrev.2014.01.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27407276"">27407276</a>
 著者        Oliveira M, Patinha F, Marinho A
 タイトル      Eosinophilic fasciitis after parasite infection.
 雑誌        Reumatologia 54:38-41 (2016)
 DOI:<a href=""https://doi.org/10.5114/reum.2016.58761"">10.5114/reum.2016.58761</a>"
H01694,"スティーブンス・ジョンソン症候群;
 中毒性表皮壊死症;
 ライエル症候群;
 重症多形滲出性紅斑",,,"Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then epidermal separation occurs and vesicles and bullae are formed. Inflammatory changes including purulent conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe complications or sequelae secondary to SJS and TEN are higher in patients with mucosal and ophthalmic involvement. The SJS and TEN are considered the same disease process, and the distinction is made based on body surface area involvement. The SJS is characterized by less than 10% of the body surface area of epidermal detachment, and TEN by more than 30%. Various etiologic factors have been implicated as causes of SJS-TEN. These include infection, vaccination, drugs, systemic diseases, physical agents, and food. Drugs are the most commonly blamed. It has been reported that SJS-TEN is strongly associated with the specific variants of the human leukocyte antigen HLA-A and HLA-B genes. There is still no consensus on a definite treatment method for SJS-TEN. Systemic steroids and IVIG are used most frequently in medical treatment and treatment options including cyclosporine, plasmapheresis and hemodialysis are required more rarely.",皮膚および結合組織疾患,,"HLA-A (polymorphism) [HSA:3105] [KO:K06751]
 HLA-B (polymorphism) [HSA:3106] [KO:K06751]",,"Carbamazepine, Aminopenicillins, Cephalosporins, Macrolides, Tetracyclines, Quinolones",,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 精製ヒアルロン酸ナトリウム [DR:D03354]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]","Two genetic risk variants, HLA-B1502 and HLA-A3101, for Carbamazepine-induced hypersensitivity reactions have been identified.","ICD-11: EB13
 ICD-10: L51.1 L51.2
 MeSH: D013262
 OMIM: 608579","PMID:27738400
 著者        Cekic S, Canitez Y, Sapan N
 タイトル      Evaluation of the patients diagnosed with Stevens Johnson syndrome and toxic epidermal necrolysis: a single center experience.
 雑誌        Turk Pediatri Ars 51:152-158 (2016)
 DOI:10.5152/TurkPediatriArs.2016.3836
 PMID:24597466
 著者        Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC
 タイトル      Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.
 雑誌        Epilepsia 55:496-506 (2014)
 DOI:10.1111/epi.12564","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01694"">H01694</a>","スティーブンス・ジョンソン症候群;
 中毒性表皮壊死症;
 ライエル症候群;
 重症多形滲出性紅斑","Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then epidermal separation occurs and vesicles and bullae are formed. Inflammatory changes including purulent conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe complications or sequelae secondary to SJS and TEN are higher in patients with mucosal and ophthalmic involvement. The SJS and TEN are considered the same disease process, and the distinction is made based on body surface area involvement. The SJS is characterized by less than 10% of the body surface area of epidermal detachment, and TEN by more than 30%. Various etiologic factors have been implicated as causes of SJS-TEN. These include infection, vaccination, drugs, systemic diseases, physical agents, and food. Drugs are the most commonly blamed. It has been reported that SJS-TEN is strongly associated with the specific variants of the human leukocyte antigen HLA-A and HLA-B genes. There is still no consensus on a definite treatment method for SJS-TEN. Systemic steroids and IVIG are used most frequently in medical treatment and treatment options including cyclosporine, plasmapheresis and hemodialysis are required more rarely.",,"HLA-A (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3105"">3105</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 HLA-B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]",,"Carbamazepine, Aminopenicillins, Cephalosporins, Macrolides, Tetracyclines, Quinolones",,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 精製ヒアルロン酸ナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03354"">D03354</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]","Two genetic risk variants, HLA-B1502 and HLA-A3101, for Carbamazepine-induced hypersensitivity reactions have been identified.","ICD-11: EB13
 ICD-10: L51.1 L51.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013262"">D013262</a>
 OMIM: <a href=""https://www.omim.org/entry/608579"">608579</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27738400"">27738400</a>
 著者        Cekic S, Canitez Y, Sapan N
 タイトル      Evaluation of the patients diagnosed with Stevens Johnson syndrome and toxic epidermal necrolysis: a single center experience.
 雑誌        Turk Pediatri Ars 51:152-158 (2016)
 DOI:<a href=""https://doi.org/10.5152/TurkPediatriArs.2016.3836"">10.5152/TurkPediatriArs.2016.3836</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24597466"">24597466</a>
 著者        Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC
 タイトル      Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.
 雑誌        Epilepsia 55:496-506 (2014)
 DOI:<a href=""https://doi.org/10.1111/epi.12564"">10.1111/epi.12564</a>"
H01695,多型紅斑,,,"Erythema multiforme (EM) is an immune-mediated, mucocutaneous condition characterized by ""target"" lesions. Classically, EM has been separated into 2 subgroups, EM minor and EM major. In EM minor, lesions often present as papules, which might enlarge and eventually form the typical target lesion with erythema surrounding an area of central clearing. The rash in EM minor preferentially affects the limbs, specifically the extensor surfaces, however, it can also be seen throughout the body, excluding mucous membranes. EM major has mucous membrane involvement. The oral mucosa is most commonly affected, initially with edema that progresses to superficial erosions. Other surfaces that might be involved include the anogenital, ocular, and nasal mucosa. Although previously thought to be on a similar continuum of EM, and histologically appearing the same, Stevens-Johnson syndrome (SJS) is increasingly being considered a separate disease process. It is currently believed that EM is a result of an immune reaction to an inciting infectious or pharmacologic antigen. The most common infectious organisms in EM are herpes simplex virus types 1 and 2, as well as Mycoplasma pneumonia. The first line of treatment for EM is removal of the inciting factor when possible. Systemic steroids have been suggested as adjuvant therapy based on their immunosuppressant effects. To date, their use has been limited to EM major, as EM minor is self-limited.",皮膚および結合組織疾患,,,,,,,"See also H01694 Stevens-Johnson syndrome and Toxic epidermal necrolysis, H00365 Herpes simplex infection, and H00341 Mycoplasma pneumonia.","ICD-11: EB12
 ICD-10: L51.9
 MeSH: D004892","PMID:23766045
 著者        Chan M, Goldman RD
 タイトル      Erythema multiforme in children: the steroid debate.
 雑誌        Can Fam Physician 59:635-6 (2013)
 DOI:10.1111/j.1600-0714.2010.00912.x
 PMID:26627523 (drug)
 著者        AlFar MY, AlRousan M, Almajali Z, Batarseh E, Alsaddi R
 タイトル      The use of corticosteroids in management of Herpes associated Erythema Multiforme.
 雑誌        J Pak Med Assoc 65:1351-3 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01695"">H01695</a>",多型紅斑,"Erythema multiforme (EM) is an immune-mediated, mucocutaneous condition characterized by ""target"" lesions. Classically, EM has been separated into 2 subgroups, EM minor and EM major. In EM minor, lesions often present as papules, which might enlarge and eventually form the typical target lesion with erythema surrounding an area of central clearing. The rash in EM minor preferentially affects the limbs, specifically the extensor surfaces, however, it can also be seen throughout the body, excluding mucous membranes. EM major has mucous membrane involvement. The oral mucosa is most commonly affected, initially with edema that progresses to superficial erosions. Other surfaces that might be involved include the anogenital, ocular, and nasal mucosa. Although previously thought to be on a similar continuum of EM, and histologically appearing the same, Stevens-Johnson syndrome (SJS) is increasingly being considered a separate disease process. It is currently believed that EM is a result of an immune reaction to an inciting infectious or pharmacologic antigen. The most common infectious organisms in EM are herpes simplex virus types 1 and 2, as well as Mycoplasma pneumonia. The first line of treatment for EM is removal of the inciting factor when possible. Systemic steroids have been suggested as adjuvant therapy based on their immunosuppressant effects. To date, their use has been limited to EM major, as EM minor is self-limited.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01694"">H01694</a> Stevens-Johnson syndrome and Toxic epidermal necrolysis, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00365"">H00365</a> Herpes simplex infection, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00341"">H00341</a> Mycoplasma pneumonia.","ICD-11: EB12
 ICD-10: L51.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004892"">D004892</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23766045"">23766045</a>
 著者        Chan M, Goldman RD
 タイトル      Erythema multiforme in children: the steroid debate.
 雑誌        Can Fam Physician 59:635-6 (2013)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0714.2010.00912.x"">10.1111/j.1600-0714.2010.00912.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26627523"">26627523</a> (drug)
 著者        AlFar MY, AlRousan M, Almajali Z, Batarseh E, Alsaddi R
 タイトル      The use of corticosteroids in management of Herpes associated Erythema Multiforme.
 雑誌        J Pak Med Assoc 65:1351-3 (2015)"
H01696,亜急性硬化性全脳炎,,,"Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal neurologic disorder of childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus. Signs attributable to subacute sclerosing panencephalitis usually develop 4-8 years after the onset of measles infection. It is not precisely known how the measles virus remains dormant for so many years and why it becomes active again. More recent data indicate that it can follow acute measles infection in 1:10,000 cases. The incidence of SSPE is inversely related to measles vaccination coverage. In the developed world, the prevalence of SSPE has steadily declined since the introduction of the measles virus vaccine. The characteristic clinical manifestations of SSPE include behavioral abnormalities, cognitive decline, myoclonic jerks, seizures and abnormalities in vision. Clinical manifestations of SSPE usually start with subtle intellectual deterioration of the affected child causing deterioration in school performance. One of the most characteristic manifestations of SSPE is periodic myoclonic jerks that often leads to difficulty in walking and repeated falls. In the terminal stages of the disease, decerebrate and decorticate rigidity appear. Ultimately the patient becomes vegetative. Management of the disease includes seizure control and avoidance of secondary complications associated with the progressive disability. Treatment with interferon, ribavirin, and isoprinosine have reported beneficial results. However, there is no definitively effective treatment for SSPE.",感染症; 神経変性疾患,,,Measles virus [GN:T40033],,,"イノシンプラノベクス [DR:D01995]
 インターフェロンアルファ (NAMALWA) [DR:D03305]",See also H00394 Measles.,"ICD-11: 8A45.01
 ICD-10: A81.1
 MeSH: D013344
 OMIM: 260470","PMID:18846316
 著者        Garg RK
 タイトル      Subacute sclerosing panencephalitis.
 雑誌        J Neurol 255:1861-71 (2008)
 DOI:10.1007/s00415-008-0032-6
 PMID:18279759
 著者        Sharma V, Gupta VB, Eisenhut M
 タイトル      Familial subacute sclerosing panencephalitis associated with short latency.
 雑誌        Pediatr Neurol 38:215-7 (2008)
 DOI:10.1016/j.pediatrneurol.2007.10.013
 PMID:16752349
 著者        Teksam M, Cakir B, Agildere AM
 タイトル      Proton MR spectroscopy in the diagnosis of early-stage subacute sclerosing panencephalitis.
 雑誌        Diagn Interv Radiol 12:61-3 (2006)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01696"">H01696</a>",亜急性硬化性全脳炎,"Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal neurologic disorder of childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus. Signs attributable to subacute sclerosing panencephalitis usually develop 4-8 years after the onset of measles infection. It is not precisely known how the measles virus remains dormant for so many years and why it becomes active again. More recent data indicate that it can follow acute measles infection in 1:10,000 cases. The incidence of SSPE is inversely related to measles vaccination coverage. In the developed world, the prevalence of SSPE has steadily declined since the introduction of the measles virus vaccine. The characteristic clinical manifestations of SSPE include behavioral abnormalities, cognitive decline, myoclonic jerks, seizures and abnormalities in vision. Clinical manifestations of SSPE usually start with subtle intellectual deterioration of the affected child causing deterioration in school performance. One of the most characteristic manifestations of SSPE is periodic myoclonic jerks that often leads to difficulty in walking and repeated falls. In the terminal stages of the disease, decerebrate and decorticate rigidity appear. Ultimately the patient becomes vegetative. Management of the disease includes seizure control and avoidance of secondary complications associated with the progressive disability. Treatment with interferon, ribavirin, and isoprinosine have reported beneficial results. However, there is no definitively effective treatment for SSPE.",,,"Measles virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40033"">T40033</a>]",,,"イノシンプラノベクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01995"">D01995</a>]
 インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00394"">H00394</a> Measles.","ICD-11: 8A45.01
 ICD-10: A81.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013344"">D013344</a>
 OMIM: <a href=""https://www.omim.org/entry/260470"">260470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18846316"">18846316</a>
 著者        Garg RK
 タイトル      Subacute sclerosing panencephalitis.
 雑誌        J Neurol 255:1861-71 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00415-008-0032-6"">10.1007/s00415-008-0032-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18279759"">18279759</a>
 著者        Sharma V, Gupta VB, Eisenhut M
 タイトル      Familial subacute sclerosing panencephalitis associated with short latency.
 雑誌        Pediatr Neurol 38:215-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2007.10.013"">10.1016/j.pediatrneurol.2007.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16752349"">16752349</a>
 著者        Teksam M, Cakir B, Agildere AM
 タイトル      Proton MR spectroscopy in the diagnosis of early-stage subacute sclerosing panencephalitis.
 雑誌        Diagn Interv Radiol 12:61-3 (2006)"
H01697,抗リン脂質抗体症候群,,,"Antiphospholipid syndrome (APS) is characterized by a variety of clinical and immunological manifestations. The clinical hallmarks of this syndrome are thrombosisand poor obstetric outcomes in the presence of antiphospholipid antibodies. APS can occur within the context of several diseases, mainly autoimmune disorders, and is then called secondary APS. About 40% of patients with systemic lupus erythematosus (SLE) have antiphospholipid antibodies, but less than 40% of them will eventually have thrombotic events. On the other hand, it may be also be present without any recognizable disease, or so-called primary APS. Pregnancy complications in APS, such as recurrent unexplained abortions, fetal loss, preeclampsia, and premature birth, have been attributed to placental thrombosis and infarcts, and management of these patients is based on attenuating the procoagulant state. Treatment with low-dose aspirin (LDA) and heparinoids has become a conventional option for pregnant women with APS. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs.",血液疾患,,,,,,,See also H00080 Systemic lupus erythematosus,"ICD-11: 4A45
 ICD-10: D68.8
 MeSH: D016736
 OMIM: 107320","PMID:20822807
 著者        Ruiz-Irastorza G, Crowther M, Branch W, Khamashta MA
 タイトル      Antiphospholipid syndrome.
 雑誌        Lancet 376:1498-509 (2010)
 DOI:10.1016/S0140-6736(10)60709-X
 PMID:26835148 (marker)
 著者        Yelnik CM, Laskin CA, Porter TF, Branch DW, Buyon JP, Guerra MM, Lockshin MD, Petri M, Merrill JT, Sammaritano LR, Kim MY, Salmon JE
 タイトル      Lupus anticoagulant is the main predictor of adverse pregnancy outcomes in aPL-positive patients: validation of PROMISSE study results.
 雑誌        Lupus Sci Med 3:e000131 (2016)
 DOI:10.1136/lupus-2015-000131
 PMID:27454295 (drug)
 著者        Lefkou E, Mamopoulos A, Dagklis T, Vosnakis C, Rousso D, Girardi G
 タイトル      Pravastatin improves pregnancy outcomes in obstetric antiphospholipid syndrome refractory to antithrombotic therapy.
 雑誌        J Clin Invest 126:2933-40 (2016)
 DOI:10.1172/JCI86957
 PMID:14679358
 著者        Gezer S
 タイトル      Antiphospholipid syndrome.
 雑誌        Dis Mon 49:696-741 (2003)
 DOI:10.1016/j.disamonth.2003.10.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01697"">H01697</a>",抗リン脂質抗体症候群,"Antiphospholipid syndrome (APS) is characterized by a variety of clinical and immunological manifestations. The clinical hallmarks of this syndrome are thrombosisand poor obstetric outcomes in the presence of antiphospholipid antibodies. APS can occur within the context of several diseases, mainly autoimmune disorders, and is then called secondary APS. About 40% of patients with systemic lupus erythematosus (SLE) have antiphospholipid antibodies, but less than 40% of them will eventually have thrombotic events. On the other hand, it may be also be present without any recognizable disease, or so-called primary APS. Pregnancy complications in APS, such as recurrent unexplained abortions, fetal loss, preeclampsia, and premature birth, have been attributed to placental thrombosis and infarcts, and management of these patients is based on attenuating the procoagulant state. Treatment with low-dose aspirin (LDA) and heparinoids has become a conventional option for pregnant women with APS. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080"">H00080</a> Systemic lupus erythematosus","ICD-11: 4A45
 ICD-10: D68.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016736"">D016736</a>
 OMIM: <a href=""https://www.omim.org/entry/107320"">107320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20822807"">20822807</a>
 著者        Ruiz-Irastorza G, Crowther M, Branch W, Khamashta MA
 タイトル      Antiphospholipid syndrome.
 雑誌        Lancet 376:1498-509 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)60709-X"">10.1016/S0140-6736(10)60709-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26835148"">26835148</a> (marker)
 著者        Yelnik CM, Laskin CA, Porter TF, Branch DW, Buyon JP, Guerra MM, Lockshin MD, Petri M, Merrill JT, Sammaritano LR, Kim MY, Salmon JE
 タイトル      Lupus anticoagulant is the main predictor of adverse pregnancy outcomes in aPL-positive patients: validation of PROMISSE study results.
 雑誌        Lupus Sci Med 3:e000131 (2016)
 DOI:<a href=""https://doi.org/10.1136/lupus-2015-000131"">10.1136/lupus-2015-000131</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27454295"">27454295</a> (drug)
 著者        Lefkou E, Mamopoulos A, Dagklis T, Vosnakis C, Rousso D, Girardi G
 タイトル      Pravastatin improves pregnancy outcomes in obstetric antiphospholipid syndrome refractory to antithrombotic therapy.
 雑誌        J Clin Invest 126:2933-40 (2016)
 DOI:<a href=""https://doi.org/10.1172/JCI86957"">10.1172/JCI86957</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14679358"">14679358</a>
 著者        Gezer S
 タイトル      Antiphospholipid syndrome.
 雑誌        Dis Mon 49:696-741 (2003)
 DOI:<a href=""https://doi.org/10.1016/j.disamonth.2003.10.001"">10.1016/j.disamonth.2003.10.001</a>"
H01698,"巨細胞性動脈炎;
 側頭動脈炎
 上位グループ    大型血管炎 [DS:H01465]",,,"Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age of 50 in Western countries. It is characterized by inflammatory damage of the aorta and/or aortic branches, particularly the temporal artery, which can lead to severe complications such as blindness or cerebrovascular disorders. GCA is twice as common in women. It is frequently associated with polymyalgia rheumatica. Laboratory tests usually reveal high erythrocyte sedimentation rate (ESR), elevated levels of C-reactive protein (CRP) and other acute phase proteins, anemia of chronic disease, and thrombocytosis. Genetic association studies have described several genes that are associated with predisposition to GCA, including genes of immune-inflammatory pathways and genes of the HLA class I and II regions. The HLA-DRB1*04 alleles seem to be the most consistently associated genetic risk factors for GCA. Outside the HLA region, the most significant loci included PTPN22. Glucocorticoids are currently the mainstay of treatment for GCA but are associated with frequent adverse events. Tocilizumab, a humanised antihuman IL-6 receptor antibody, has been used successfully in several reports as a treatment of GCA.",免疫系疾患; 循環器系疾患,,"HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
 PTPN22 (polymorphism) [HSA:26191] [KO:K18024]",,,,トシリズマブ [DR:D02596],See also H01465 Large-vessel vasculitis (LVV).,"ICD-11: 4A44.2
 ICD-10: M31.6
 MeSH: D013700
 OMIM: 187360","PMID:27708947 (marker)
 著者        Gracanin AG, Curic J, Loncarevic J, Morovic-Vergles J
 タイトル      Magnetic resonance imaging in the diagnosis and follow-up of giant cell arteritis: case report and review of literature.
 雑誌        Eur J Rheumatol 2:125-128 (2015)
 DOI:10.5152/eurjrheum.2015.0080
 PMID:25817017
 著者        Carmona FD, Mackie SL, Martin JE, Taylor JC, Vaglio A, Eyre S, Bossini-Castillo L, Castaneda S, Cid MC, Hernandez-Rodriguez J, Prieto-Gonzalez S, Solans R, Ramentol-Sintas M, Gonzalez-Escribano MF, Ortiz-Fernandez L, Morado IC, Narvaez J, Miranda-Filloy JA, Beretta L, Lunardi C, Cimmino MA, Gianfreda D, Santilli D, Ramirez GA, Soriano A, Muratore F, Pazzola G, Addimanda O, Wijmenga C, Witte T, Schirmer JH, Moosig F, Schonau V, Franke A, Palm O, Molberg O, Diamantopoulos AP, Carette S, Cuthbertson D, Forbess LJ, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Pagnoux C, Seo P, Spiera R, Sreih AG, Warrington KJ, Ytterberg SR, Gregersen PK, Pease CT, Gough A, Green M, Hordon L, Jarrett S, Watts R, Levy S, Patel Y, Kamath S, Dasgupta B, Worthington J, Koeleman BP, de Bakker PI, Barrett JH, Salvarani C, Merkel PA, Gonzalez-Gay MA, Morgan AW, Martin J
 タイトル      A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.
 雑誌        Am J Hum Genet 96:565-80 (2015)
 DOI:10.1016/j.ajhg.2015.02.009
 PMID:26819753 (drug)
 著者        Evans J, Steel L, Borg F, Dasgupta B
 タイトル      Long-term efficacy and safety of tocilizumab in giant cell arteritis and large vessel vasculitis.
 雑誌        RMD Open 2:e000137 (2016)
 DOI:10.1136/rmdopen-2015-000137","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01698"">H01698</a>","巨細胞性動脈炎;
 側頭動脈炎
 上位グループ    大型血管炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01465"">H01465</a>]","Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age of 50 in Western countries. It is characterized by inflammatory damage of the aorta and/or aortic branches, particularly the temporal artery, which can lead to severe complications such as blindness or cerebrovascular disorders. GCA is twice as common in women. It is frequently associated with polymyalgia rheumatica. Laboratory tests usually reveal high erythrocyte sedimentation rate (ESR), elevated levels of C-reactive protein (CRP) and other acute phase proteins, anemia of chronic disease, and thrombocytosis. Genetic association studies have described several genes that are associated with predisposition to GCA, including genes of immune-inflammatory pathways and genes of the HLA class I and II regions. The HLA-DRB1*04 alleles seem to be the most consistently associated genetic risk factors for GCA. Outside the HLA region, the most significant loci included PTPN22. Glucocorticoids are currently the mainstay of treatment for GCA but are associated with frequent adverse events. Tocilizumab, a humanised antihuman IL-6 receptor antibody, has been used successfully in several reports as a treatment of GCA.",,"HLA-DRB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3123"">3123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 PTPN22 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26191"">26191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18024"">K18024</a>]",,,,"トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01465"">H01465</a> Large-vessel vasculitis (LVV).","ICD-11: 4A44.2
 ICD-10: M31.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013700"">D013700</a>
 OMIM: <a href=""https://www.omim.org/entry/187360"">187360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27708947"">27708947</a> (marker)
 著者        Gracanin AG, Curic J, Loncarevic J, Morovic-Vergles J
 タイトル      Magnetic resonance imaging in the diagnosis and follow-up of giant cell arteritis: case report and review of literature.
 雑誌        Eur J Rheumatol 2:125-128 (2015)
 DOI:<a href=""https://doi.org/10.5152/eurjrheum.2015.0080"">10.5152/eurjrheum.2015.0080</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25817017"">25817017</a>
 著者        Carmona FD, Mackie SL, Martin JE, Taylor JC, Vaglio A, Eyre S, Bossini-Castillo L, Castaneda S, Cid MC, Hernandez-Rodriguez J, Prieto-Gonzalez S, Solans R, Ramentol-Sintas M, Gonzalez-Escribano MF, Ortiz-Fernandez L, Morado IC, Narvaez J, Miranda-Filloy JA, Beretta L, Lunardi C, Cimmino MA, Gianfreda D, Santilli D, Ramirez GA, Soriano A, Muratore F, Pazzola G, Addimanda O, Wijmenga C, Witte T, Schirmer JH, Moosig F, Schonau V, Franke A, Palm O, Molberg O, Diamantopoulos AP, Carette S, Cuthbertson D, Forbess LJ, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Pagnoux C, Seo P, Spiera R, Sreih AG, Warrington KJ, Ytterberg SR, Gregersen PK, Pease CT, Gough A, Green M, Hordon L, Jarrett S, Watts R, Levy S, Patel Y, Kamath S, Dasgupta B, Worthington J, Koeleman BP, de Bakker PI, Barrett JH, Salvarani C, Merkel PA, Gonzalez-Gay MA, Morgan AW, Martin J
 タイトル      A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.
 雑誌        Am J Hum Genet 96:565-80 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.009"">10.1016/j.ajhg.2015.02.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26819753"">26819753</a> (drug)
 著者        Evans J, Steel L, Borg F, Dasgupta B
 タイトル      Long-term efficacy and safety of tocilizumab in giant cell arteritis and large vessel vasculitis.
 雑誌        RMD Open 2:e000137 (2016)
 DOI:<a href=""https://doi.org/10.1136/rmdopen-2015-000137"">10.1136/rmdopen-2015-000137</a>"
H01699,"TSH 単独欠損症
 上位グループ    下垂体前葉機能低下症 [DS:H01700]",,,"Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant corticotropin deficiency should be excluded prior to starting therapy in order to avoid an adrenal crisis.",内分泌系疾患,,TSHB [HSA:7252] [KO:K05251],,,,,See also H00250 Congenital nongoitrous hypothyroidism (CHNG).,"ICD-11: 5A61.4
 ICD-10: E23.0
 MeSH: C536917
 OMIM: 275100","PMID:15292359
 著者        Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J
 タイトル      Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
 雑誌        J Clin Endocrinol Metab 89:4136-41 (2004)
 DOI:10.1210/jc.2004-0494
 PMID:1971148
 著者        Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC
 タイトル      Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
 雑誌        Am J Hum Genet 46:988-93 (1990)
 PMID:17077946 (drug, marker)
 著者        Ascoli P, Cavagnini F
 タイトル      Hypopituitarism.
 雑誌        Pituitary 9:335-42 (2006)
 DOI:10.1007/s11102-006-0416-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01699"">H01699</a>","TSH 単独欠損症
 上位グループ    下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant corticotropin deficiency should be excluded prior to starting therapy in order to avoid an adrenal crisis.",,"TSHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7252"">7252</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05251"">K05251</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00250"">H00250</a> Congenital nongoitrous hypothyroidism (CHNG).","ICD-11: 5A61.4
 ICD-10: E23.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536917"">C536917</a>
 OMIM: <a href=""https://www.omim.org/entry/275100"">275100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15292359"">15292359</a>
 著者        Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J
 タイトル      Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
 雑誌        J Clin Endocrinol Metab 89:4136-41 (2004)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-0494"">10.1210/jc.2004-0494</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1971148"">1971148</a>
 著者        Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC
 タイトル      Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
 雑誌        Am J Hum Genet 46:988-93 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17077946"">17077946</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Ascoli P, Cavagnini F
 タイトル      Hypopituitarism.
 雑誌        Pituitary 9:335-42 (2006)
 DOI:<a href=""https://doi.org/10.1007/s11102-006-0416-5"">10.1007/s11102-006-0416-5</a>"
H01700,"下垂体前葉機能低下症
 下位グループ    成長ホルモン分泌不全症 [DS:H00254]
 低ゴナドトロピン性性腺機能低下症 [DS:H00255]
 ACTH単独欠損症 [DS:H01011]
 卵胞刺激ホルモン単独欠損症 [DS:H01253]
 TSH 単独欠損症 [DS:H01699]",,,"Hypopituitarism is a chronic endocrine illness, and is the partial or complete insufficiency of anterior pituitary hormone secretion. Anterior pituitary is composed of five cell types that secrete growth hormone (GH), prolactin (PRL), follicle-stimulating hormone (FSH) and luteinizing hormone (LH), thyroid stimulating hormone (TSH) and corticotropin hormone (ACTH). Clinical manifestations of hypopituitarism are variable, often insidious in onset and dependent on the degree and severity of hormone deficiency. However, it is associated with increased mortality and morbidity. A variety of diseases may cause hypopituitarism and, accordingly, this disorder can be divided into two types depending on its cause. Primary hypopituitarism is caused by disorders of the pituitary gland itself and may be due to the loss, damage, or dysfunction of pituitary hormone-secreting cells. On the other hand, secondary hypopituitarism is the result of diseases of the hypothalamus or pituitary stalk interrupting the nerve or vascular connections to the pituitary gland, thereby reducing the secretion of the pituitary hormones. Hypopituitarism can be easily diagnosed by measuring basal pituitary and target hormone levels. MR imaging of the hypothalamo-pituitary region may provide essential information. The most common causes of primary hypopituitarism are pituitary adenoma and complications from surgery or radiation therapy for the treatment of pituitary adenoma. In rare cases, hypopituitarism has been observed when the infection occurs. Sheehan's syndrome is hypopituitarism caused by the postpartum hemorrhage of the pituitary gland. In still rarer cases, solitary or complicated pituitary hormone deficiency syndromes may occur due to genetic causes and typically affect children. The treatment of hypopituitarism typically involves a replacement of the deficient hormone but care must be taken because several studies have reported an increased incidence of cardiovascular disorders and number of deaths among these patients.",内分泌系疾患,,"GHRH [HSA:2691] [KO:K05260]
 TRH receptor [HSA:7201] [KO:K04282]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: D007018","PMID:17077946
 著者        Ascoli P, Cavagnini F
 タイトル      Hypopituitarism.
 雑誌        Pituitary 9:335-42 (2006)
 DOI:10.1007/s11102-006-0416-5
 PMID:15519252
 著者        Reynaud R, Saveanu A, Barlier A, Enjalbert A, Brue T
 タイトル      Pituitary hormone deficiencies due to transcription factor gene alterations.
 雑誌        Growth Horm IGF Res 14:442-8 (2004)
 DOI:10.1016/j.ghir.2004.07.001
 PMID:18174732
 著者        Kelberman D, Dattani MT
 タイトル      Hypopituitarism oddities: congenital causes.
 雑誌        Horm Res 68 Suppl 5:138-44 (2007)
 DOI:10.1159/000110610","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>","下垂体前葉機能低下症
 下位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 低ゴナドトロピン性性腺機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a>]
 ACTH単独欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01011"">H01011</a>]
 卵胞刺激ホルモン単独欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01253"">H01253</a>]
 TSH 単独欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01699"">H01699</a>]","Hypopituitarism is a chronic endocrine illness, and is the partial or complete insufficiency of anterior pituitary hormone secretion. Anterior pituitary is composed of five cell types that secrete growth hormone (GH), prolactin (PRL), follicle-stimulating hormone (FSH) and luteinizing hormone (LH), thyroid stimulating hormone (TSH) and corticotropin hormone (ACTH). Clinical manifestations of hypopituitarism are variable, often insidious in onset and dependent on the degree and severity of hormone deficiency. However, it is associated with increased mortality and morbidity. A variety of diseases may cause hypopituitarism and, accordingly, this disorder can be divided into two types depending on its cause. Primary hypopituitarism is caused by disorders of the pituitary gland itself and may be due to the loss, damage, or dysfunction of pituitary hormone-secreting cells. On the other hand, secondary hypopituitarism is the result of diseases of the hypothalamus or pituitary stalk interrupting the nerve or vascular connections to the pituitary gland, thereby reducing the secretion of the pituitary hormones. Hypopituitarism can be easily diagnosed by measuring basal pituitary and target hormone levels. MR imaging of the hypothalamo-pituitary region may provide essential information. The most common causes of primary hypopituitarism are pituitary adenoma and complications from surgery or radiation therapy for the treatment of pituitary adenoma. In rare cases, hypopituitarism has been observed when the infection occurs. Sheehan's syndrome is hypopituitarism caused by the postpartum hemorrhage of the pituitary gland. In still rarer cases, solitary or complicated pituitary hormone deficiency syndromes may occur due to genetic causes and typically affect children. The treatment of hypopituitarism typically involves a replacement of the deficient hormone but care must be taken because several studies have reported an increased incidence of cardiovascular disorders and number of deaths among these patients.",,"GHRH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2691"">2691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05260"">K05260</a>]
 TRH receptor [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7201"">7201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04282"">K04282</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007018"">D007018</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17077946"">17077946</a>
 著者        Ascoli P, Cavagnini F
 タイトル      Hypopituitarism.
 雑誌        Pituitary 9:335-42 (2006)
 DOI:<a href=""https://doi.org/10.1007/s11102-006-0416-5"">10.1007/s11102-006-0416-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15519252"">15519252</a>
 著者        Reynaud R, Saveanu A, Barlier A, Enjalbert A, Brue T
 タイトル      Pituitary hormone deficiencies due to transcription factor gene alterations.
 雑誌        Growth Horm IGF Res 14:442-8 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ghir.2004.07.001"">10.1016/j.ghir.2004.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18174732"">18174732</a>
 著者        Kelberman D, Dattani MT
 タイトル      Hypopituitarism oddities: congenital causes.
 雑誌        Horm Res 68 Suppl 5:138-44 (2007)
 DOI:<a href=""https://doi.org/10.1159/000110610"">10.1159/000110610</a>"
H01701,"下垂体性 TSH 分泌亢進症;
 TSH不適切分泌症候群 (SITSH)",,,"Pituitary TSH hypersecretion is disease of the anterior portion of the pituitary resulting in hypersecretion of thyroid stimulating hormone (TSH). It includes two forms of central hyperthyroidism, i.e. TSH-secreting pituitary adenoma (TSHoma) and resistance to thyroid hormone action (RTH). The incidence of hyperthyroidism due to a TSHoma is extremely low, 1-2% of all cases of hyperthyroidism. Most of the tumors are macroadenomas usually presenting with symptoms such as headache and/or visual field impairment while the symptoms of hyperthyroidism seem to be milder compared with those caused by primary hyperthyroidism. First-line treatment of TSHoma is pituitary adenomectomy followed by irradiation in the case of surgical failure. However, medical treatment with somatostatin analogs, such as octreotide and lanreotide, are effective in reducing TSH secretion.",内分泌系疾患,,,,,,,"See also H00249 Thyroid hormone resistance syndrome, H01102 Pituitary adenomas, and H01645 Hyperthyroidism.","ICD-11: 5A60.Y
 ICD-10: E22.9
 MeSH: D006964","PMID:25905212
 著者        Beck-Peccoz P, Persani L, Lania A
 タイトル      Thyrotropin-Secreting Pituitary Adenomas
 雑誌        Endotext (2000)
 PMID:23402621
 著者        Tong A, Xia W, Qi F, Jin Z, Yang D, Zhang Z, Li F, Xing X, Lian X
 タイトル      Hyperthyroidism caused by an ectopic thyrotropin-secreting tumor of the nasopharynx: a case report and review of the literature.
 雑誌        Thyroid 23:1172-7 (2013)
 DOI:10.1089/thy.2012.0574
 PMID:26765410 (drug)
 著者        Mousiolis AC, Rapti E, Grammatiki M, Yavropoulou M, Efstathiou M, Foroglou N, Daniilidis M, Kotsa K
 タイトル      Somatostatin Analogue Treatment of a TSH-Secreting Adenoma Presenting With Accelerated Bone Metabolism and a Pericardial Effusion: A Case Report.
 雑誌        Medicine (Baltimore) 95:e2358 (2016)
 DOI:10.1097/MD.0000000000002358
 PMID:24783044 (drug, marker)
 著者        Beck-Peccoz P, Lania A, Beckers A, Chatterjee K, Wemeau JL
 タイトル      2013 European thyroid association guidelines for the diagnosis and treatment of thyrotropin-secreting pituitary tumors.
 雑誌        Eur Thyroid J 2:76-82 (2013)
 DOI:10.1159/000351007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01701"">H01701</a>","下垂体性 TSH 分泌亢進症;
 TSH不適切分泌症候群 (SITSH)","Pituitary TSH hypersecretion is disease of the anterior portion of the pituitary resulting in hypersecretion of thyroid stimulating hormone (TSH). It includes two forms of central hyperthyroidism, i.e. TSH-secreting pituitary adenoma (TSHoma) and resistance to thyroid hormone action (RTH). The incidence of hyperthyroidism due to a TSHoma is extremely low, 1-2% of all cases of hyperthyroidism. Most of the tumors are macroadenomas usually presenting with symptoms such as headache and/or visual field impairment while the symptoms of hyperthyroidism seem to be milder compared with those caused by primary hyperthyroidism. First-line treatment of TSHoma is pituitary adenomectomy followed by irradiation in the case of surgical failure. However, medical treatment with somatostatin analogs, such as octreotide and lanreotide, are effective in reducing TSH secretion.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00249"">H00249</a> Thyroid hormone resistance syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a> Pituitary adenomas, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01645"">H01645</a> Hyperthyroidism.","ICD-11: 5A60.Y
 ICD-10: E22.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006964"">D006964</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25905212"">25905212</a>
 著者        Beck-Peccoz P, Persani L, Lania A
 タイトル      Thyrotropin-Secreting Pituitary Adenomas
 雑誌        Endotext (2000)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23402621"">23402621</a>
 著者        Tong A, Xia W, Qi F, Jin Z, Yang D, Zhang Z, Li F, Xing X, Lian X
 タイトル      Hyperthyroidism caused by an ectopic thyrotropin-secreting tumor of the nasopharynx: a case report and review of the literature.
 雑誌        Thyroid 23:1172-7 (2013)
 DOI:<a href=""https://doi.org/10.1089/thy.2012.0574"">10.1089/thy.2012.0574</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26765410"">26765410</a> (drug)
 著者        Mousiolis AC, Rapti E, Grammatiki M, Yavropoulou M, Efstathiou M, Foroglou N, Daniilidis M, Kotsa K
 タイトル      Somatostatin Analogue Treatment of a TSH-Secreting Adenoma Presenting With Accelerated Bone Metabolism and a Pericardial Effusion: A Case Report.
 雑誌        Medicine (Baltimore) 95:e2358 (2016)
 DOI:<a href=""https://doi.org/10.1097/MD.0000000000002358"">10.1097/MD.0000000000002358</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24783044"">24783044</a> (drug, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Beck-Peccoz P, Lania A, Beckers A, Chatterjee K, Wemeau JL
 タイトル      2013 European thyroid association guidelines for the diagnosis and treatment of thyrotropin-secreting pituitary tumors.
 雑誌        Eur Thyroid J 2:76-82 (2013)
 DOI:<a href=""https://doi.org/10.1159/000351007"">10.1159/000351007</a>"
H01702,グルココルチコイド抵抗症候群,,,"Glucocorticoid resistance is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence of the clinical stigmata of Cushing's syndrome. The clinical symptom of glucocorticoid resistance is variable. Phenotypes commonly include hypoglycemia, hypertension, and metabolic alkalosis. Mutations in the the glucocorticoid receptor (GR) gene NR3C1 have been reported.",内分泌系疾患,nt06310  CRH-ACTH-cortisol signaling,NR3C1 [HSA:2908] [KO:K05771],,,,,"This syndrome is distinct from ""glucocorticoid resistance to the treatment"".
 See also H01431 Cushing's syndrome.","ICD-11: 5A71.00
 ICD-10: E25.8
 MeSH: C564221
 OMIM: 615962","PMID:15265781
 著者        Charmandari E, Kino T, Chrousos GP
 タイトル      Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.
 雑誌        Ann N Y Acad Sci 1024:168-81 (2004)
 DOI:10.1196/annals.1321.014
 PMID:12754700
 著者        Bray PJ, Cotton RG
 タイトル      Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.
 雑誌        Hum Mutat 21:557-68 (2003)
 DOI:10.1002/humu.10213
 PMID:23076843
 著者        Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K
 タイトル      Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.
 雑誌        Eur J Endocrinol 168:K9-K18 (2013)
 DOI:10.1530/EJE-12-0532","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01702"">H01702</a>",グルココルチコイド抵抗症候群,"Glucocorticoid resistance is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence of the clinical stigmata of Cushing's syndrome. The clinical symptom of glucocorticoid resistance is variable. Phenotypes commonly include hypoglycemia, hypertension, and metabolic alkalosis. Mutations in the the glucocorticoid receptor (GR) gene NR3C1 have been reported.","<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","NR3C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2908"">2908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05771"">K05771</a>]",,,,,"This syndrome is distinct from ""glucocorticoid resistance to the treatment"".
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a> Cushing's syndrome.","ICD-11: 5A71.00
 ICD-10: E25.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564221"">C564221</a>
 OMIM: <a href=""https://www.omim.org/entry/615962"">615962</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15265781"">15265781</a>
 著者        Charmandari E, Kino T, Chrousos GP
 タイトル      Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.
 雑誌        Ann N Y Acad Sci 1024:168-81 (2004)
 DOI:<a href=""https://doi.org/10.1196/annals.1321.014"">10.1196/annals.1321.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12754700"">12754700</a>
 著者        Bray PJ, Cotton RG
 タイトル      Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.
 雑誌        Hum Mutat 21:557-68 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10213"">10.1002/humu.10213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23076843"">23076843</a>
 著者        Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K
 タイトル      Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.
 雑誌        Eur J Endocrinol 168:K9-K18 (2013)
 DOI:<a href=""https://doi.org/10.1530/EJE-12-0532"">10.1530/EJE-12-0532</a>"
H01703,"中枢性摂食異常症 (摂食障害)
 下位グループ    神経性食欲不振症（拒食症)
 神経性過食症（過食嘔吐症)
 過食症",,,"Eating disorders, which include anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED), are disorders defined by disturbances in eating behavior. Anorexia nervosa (AN) is the oldest recognized eating disorder. The salient features of this eating disorder are a relentless pursuit of thinness, accompanied by a fear of becoming fat despite being markedly underweight. In women, anorexia nervosa is associated with global endocrine dysregulation, including hypothalamic-pituitary axis dysfunction and alterations in adipokine and appetite regulating hormone levels. Bulimia nervosa (BN) is defined by eating behaviors that include episodes of binge eating which are followed by recurrent self-induced vomiting performed in an attempt to avoid weight gain from the caloric overload. Binge eating disorder (BED) is currently characterized by recurrent episodes of binge eating occurring at least twice a week for 6 months or longer. In contrast to bulimia nervosa, there are no inappropriate compensatory behaviors such as vomiting. Eating disorders frequently develop during adolescence or early adulthood, but some studies have reported their onset during childhood or later in adulthood. There is growing evidence supporting a multifactorial etiology that includes genetic, neurochemical, and physiological components for eating disorders above and beyond the more conventional theories based on psychological and sociocultural factors. Brain-derived neurotrophic factor (BDNF) plays a critical role in regulating nerves in the brain. Recent studies have provided evidence that BDNF also plays a role in regulating eating behaviors. In addition, an association between the BDNF gene polymorphism and eating disorders has been demonstrated. Other genetic risk factors for eating disorders have also been reported.",精神及び行動の障害,,"BDNF [HSA:627] [KO:K04355]
 AGRP [HSA:181] [KO:K05231]
 GHRL [HSA:51738] [KO:K05254]
 OPRD1 [HSA:4985] [KO:K04213]
 HTR1D [HSA:3352] [KO:K04153]",,,,,,"ICD-11: 6B8Y
 ICD-10: F50
 MeSH: D001068
 OMIM: 606788 610269","PMID:23348361
 著者        Heaner MK, Walsh BT
 タイトル      A history of the identification of the characteristic eating disturbances of Bulimia Nervosa, Binge Eating Disorder and Anorexia Nervosa.
 雑誌        Appetite 65:185-8 (2013)
 DOI:10.1016/j.appet.2013.01.005
 PMID:12888803
 著者        Ribases M, Gratacos M, Armengol L, de Cid R, Badia A, Jimenez L, Solano R, Vallejo J, Fernandez F, Estivill X
 タイトル      Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.
 雑誌        Mol Psychiatry 8:745-51 (2003)
 DOI:10.1038/sj.mp.4001281
 PMID:22960103
 著者        Atalayer D, Gibson C, Konopacka A, Geliebter A
 タイトル      Ghrelin and eating disorders.
 雑誌        Prog Neuropsychopharmacol Biol Psychiatry 40:70-82 (2013)
 DOI:10.1016/j.pnpbp.2012.08.011
 PMID:24831852
 著者        Yilmaz Z, Kaplan AS, Tiwari AK, Levitan RD, Piran S, Bergen AW, Kaye WH, Hakonarson H, Wang K, Berrettini WH, Brandt HA, Bulik CM, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson CL, Keel PK, Klump KL, Magistretti P, Mitchell JE, Strober M, Thornton LM, Treasure J, Woodside DB, Knight J, Kennedy JL
 タイトル      The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa.
 雑誌        J Psychiatr Res 55:77-86 (2014)
 DOI:10.1016/j.jpsychires.2014.04.005
 PMID:15389773
 著者        Koronyo-Hamaoui M, Gak E, Stein D, Frisch A, Danziger Y, Leor S, Michaelovsky E, Laufer N, Carel C, Fennig S, Mimouni M, Apter A, Goldman B, Barkai G, Weizman A
 タイトル      CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 131B:76-80 (2004)
 DOI:10.1002/ajmg.b.20154
 PMID:12740597
 著者        Bergen AW, van den Bree MB, Yeager M, Welch R, Ganjei JK, Haque K, Bacanu S, Berrettini WH, Grice DE, Goldman D, Bulik CM, Klump K, Fichter M, Halmi K, Kaplan A, Strober M, Treasure J, Woodside B, Kaye WH
 タイトル      Candidate genes for anorexia nervosa in the 1p33-36 linkage region: serotonin 1D and delta opioid receptor loci exhibit significant association to anorexia nervosa.
 雑誌        Mol Psychiatry 8:397-406 (2003)
 DOI:10.1038/sj.mp.4001318","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01703"">H01703</a>","中枢性摂食異常症 (摂食障害)
 下位グループ    神経性食欲不振症（拒食症)
 神経性過食症（過食嘔吐症)
 過食症","Eating disorders, which include anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED), are disorders defined by disturbances in eating behavior. Anorexia nervosa (AN) is the oldest recognized eating disorder. The salient features of this eating disorder are a relentless pursuit of thinness, accompanied by a fear of becoming fat despite being markedly underweight. In women, anorexia nervosa is associated with global endocrine dysregulation, including hypothalamic-pituitary axis dysfunction and alterations in adipokine and appetite regulating hormone levels. Bulimia nervosa (BN) is defined by eating behaviors that include episodes of binge eating which are followed by recurrent self-induced vomiting performed in an attempt to avoid weight gain from the caloric overload. Binge eating disorder (BED) is currently characterized by recurrent episodes of binge eating occurring at least twice a week for 6 months or longer. In contrast to bulimia nervosa, there are no inappropriate compensatory behaviors such as vomiting. Eating disorders frequently develop during adolescence or early adulthood, but some studies have reported their onset during childhood or later in adulthood. There is growing evidence supporting a multifactorial etiology that includes genetic, neurochemical, and physiological components for eating disorders above and beyond the more conventional theories based on psychological and sociocultural factors. Brain-derived neurotrophic factor (BDNF) plays a critical role in regulating nerves in the brain. Recent studies have provided evidence that BDNF also plays a role in regulating eating behaviors. In addition, an association between the BDNF gene polymorphism and eating disorders has been demonstrated. Other genetic risk factors for eating disorders have also been reported.",,"BDNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:627"">627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04355"">K04355</a>]
 AGRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:181"">181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05231"">K05231</a>]
 GHRL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51738"">51738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05254"">K05254</a>]
 OPRD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4985"">4985</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04213"">K04213</a>]
 HTR1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3352"">3352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04153"">K04153</a>]",,,,,,"ICD-11: 6B8Y
 ICD-10: F50
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001068"">D001068</a>
 OMIM: <a href=""https://www.omim.org/entry/606788"">606788</a> <a href=""https://www.omim.org/entry/610269"">610269</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23348361"">23348361</a>
 著者        Heaner MK, Walsh BT
 タイトル      A history of the identification of the characteristic eating disturbances of Bulimia Nervosa, Binge Eating Disorder and Anorexia Nervosa.
 雑誌        Appetite 65:185-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.appet.2013.01.005"">10.1016/j.appet.2013.01.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12888803"">12888803</a>
 著者        Ribases M, Gratacos M, Armengol L, de Cid R, Badia A, Jimenez L, Solano R, Vallejo J, Fernandez F, Estivill X
 タイトル      Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.
 雑誌        Mol Psychiatry 8:745-51 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001281"">10.1038/sj.mp.4001281</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22960103"">22960103</a>
 著者        Atalayer D, Gibson C, Konopacka A, Geliebter A
 タイトル      Ghrelin and eating disorders.
 雑誌        Prog Neuropsychopharmacol Biol Psychiatry 40:70-82 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.pnpbp.2012.08.011"">10.1016/j.pnpbp.2012.08.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24831852"">24831852</a>
 著者        Yilmaz Z, Kaplan AS, Tiwari AK, Levitan RD, Piran S, Bergen AW, Kaye WH, Hakonarson H, Wang K, Berrettini WH, Brandt HA, Bulik CM, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson CL, Keel PK, Klump KL, Magistretti P, Mitchell JE, Strober M, Thornton LM, Treasure J, Woodside DB, Knight J, Kennedy JL
 タイトル      The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa.
 雑誌        J Psychiatr Res 55:77-86 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jpsychires.2014.04.005"">10.1016/j.jpsychires.2014.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15389773"">15389773</a>
 著者        Koronyo-Hamaoui M, Gak E, Stein D, Frisch A, Danziger Y, Leor S, Michaelovsky E, Laufer N, Carel C, Fennig S, Mimouni M, Apter A, Goldman B, Barkai G, Weizman A
 タイトル      CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.
 雑誌        Am J Med Genet B Neuropsychiatr Genet 131B:76-80 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.b.20154"">10.1002/ajmg.b.20154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12740597"">12740597</a>
 著者        Bergen AW, van den Bree MB, Yeager M, Welch R, Ganjei JK, Haque K, Bacanu S, Berrettini WH, Grice DE, Goldman D, Bulik CM, Klump K, Fichter M, Halmi K, Kaplan A, Strober M, Treasure J, Woodside B, Kaye WH
 タイトル      Candidate genes for anorexia nervosa in the 1p33-36 linkage region: serotonin 1D and delta opioid receptor loci exhibit significant association to anorexia nervosa.
 雑誌        Mol Psychiatry 8:397-406 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001318"">10.1038/sj.mp.4001318</a>"
H01704,突発性難聴,,,"Sudden sensorineural hearing loss (SNHL) is commonly defined as hearing loss of more than 30 dB, affecting three or more frequencies, arising over less than 3 days. The predominant form of sudden SNHL is unilateral in location, and the main aetiology is idiopathic. As the majority of patients (30-65 %) with unilateral sudden SNHL report spontaneous recovery within 2 weeks, unilateral disease is mostly regarded as a benign condition. Prognosis for recovery is dependent on a number of factors, including patient age, presence of vertigo at onset, degree of hearing loss, and time between onset of hearing loss and treatment. The pathology of sudden SNHL remains unclear. However, a series of factors, including viral infections, microcirculatory disorders, autoimmune disorders, and labyrinthine hemorrhage, have been proposed as causative factors. Different treatment regimens like antioxidants, corticosteroids, vasodilatators, hyperbaric oxygen (HBO), or carbogen therapy have been described. Among these approaches, steroid treatment is the most common.",神経系疾患,,,,,,バトロキソビン [DR:D03352],,"ICD-11: AB51.1
 ICD-10: H91.2
 MeSH: D003639","PMID:27460341
 著者        Ergun Tasdoven G, Derin AT, Yaprak N, Ozcaglar HU
 タイトル      The place of hyperbaric oxygen therapy and ozone therapy in sudden hearing loss.
 雑誌        Braz J Otorhinolaryngol 83:457-463 (2017)
 DOI:10.1016/j.bjorl.2016.06.002
 PMID:27014454 (drug)
 著者        Lamm H, Muller-Kortkamp C, Warnecke A, Pohl F, Paasche G, Lenarz T, Stolle SR
 タイトル      Concurrent hyperbaric oxygen therapy and intratympanic steroid application as salvage therapy after severe sudden sensorineural hearing loss.
 雑誌        Clin Case Rep 4:287-93 (2016)
 DOI:10.1002/ccr3.510
 PMID:26568939
 著者        Arjun D, Neha G, Surinder K S, Ravi K
 タイトル      Sudden Sensorineural Hearing Loss; Prognostic Factors.
 雑誌        Iran J Otorhinolaryngol 27:355-9 (2015)
 DOI:10.22038/IJORL.2015.4782
 PMID:27064040
 著者        Li FJ, Wang DY, Wang HY, Wang L, Yang FB, Lan L, Guan J, Yin ZF, Rosenhall U, Yu L, Hellstrom S, Xue XJ, Duan ML, Wang QJ
 タイトル      Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss.
 雑誌        Chin Med J (Engl) 129:946-52 (2016)
 DOI:10.4103/0366-6999.179791","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01704"">H01704</a>",突発性難聴,"Sudden sensorineural hearing loss (SNHL) is commonly defined as hearing loss of more than 30 dB, affecting three or more frequencies, arising over less than 3 days. The predominant form of sudden SNHL is unilateral in location, and the main aetiology is idiopathic. As the majority of patients (30-65 %) with unilateral sudden SNHL report spontaneous recovery within 2 weeks, unilateral disease is mostly regarded as a benign condition. Prognosis for recovery is dependent on a number of factors, including patient age, presence of vertigo at onset, degree of hearing loss, and time between onset of hearing loss and treatment. The pathology of sudden SNHL remains unclear. However, a series of factors, including viral infections, microcirculatory disorders, autoimmune disorders, and labyrinthine hemorrhage, have been proposed as causative factors. Different treatment regimens like antioxidants, corticosteroids, vasodilatators, hyperbaric oxygen (HBO), or carbogen therapy have been described. Among these approaches, steroid treatment is the most common.",,,,,,"バトロキソビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03352"">D03352</a>]",,"ICD-11: AB51.1
 ICD-10: H91.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003639"">D003639</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27460341"">27460341</a>
 著者        Ergun Tasdoven G, Derin AT, Yaprak N, Ozcaglar HU
 タイトル      The place of hyperbaric oxygen therapy and ozone therapy in sudden hearing loss.
 雑誌        Braz J Otorhinolaryngol 83:457-463 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.bjorl.2016.06.002"">10.1016/j.bjorl.2016.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27014454"">27014454</a> (drug)
 著者        Lamm H, Muller-Kortkamp C, Warnecke A, Pohl F, Paasche G, Lenarz T, Stolle SR
 タイトル      Concurrent hyperbaric oxygen therapy and intratympanic steroid application as salvage therapy after severe sudden sensorineural hearing loss.
 雑誌        Clin Case Rep 4:287-93 (2016)
 DOI:<a href=""https://doi.org/10.1002/ccr3.510"">10.1002/ccr3.510</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26568939"">26568939</a>
 著者        Arjun D, Neha G, Surinder K S, Ravi K
 タイトル      Sudden Sensorineural Hearing Loss; Prognostic Factors.
 雑誌        Iran J Otorhinolaryngol 27:355-9 (2015)
 DOI:<a href=""https://doi.org/10.22038/IJORL.2015.4782"">10.22038/IJORL.2015.4782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27064040"">27064040</a>
 著者        Li FJ, Wang DY, Wang HY, Wang L, Yang FB, Lan L, Guan J, Yin ZF, Rosenhall U, Yu L, Hellstrom S, Xue XJ, Duan ML, Wang QJ
 タイトル      Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss.
 雑誌        Chin Med J (Engl) 129:946-52 (2016)
 DOI:<a href=""https://doi.org/10.4103/0366-6999.179791"">10.4103/0366-6999.179791</a>"
H01705,"若年発症型両側性感音難聴;
 突発性両側性感音難聴",,,"Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be mostly related to serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer prognosis following treatment, and more significant impairment in morbidity and overall quality of life.",神経系疾患,,"ACTG1 [HSA:71] [KO:K05692]
 CDH23 [HSA:64072] [KO:K06813]
 COCH [HSA:1690] [KO:K23574]
 KCNQ4 [HSA:9132] [KO:K04929]
 TECTA [HSA:7007] [KO:K18273]
 TMPRSS3 [HSA:64699] [KO:K09634]
 WFS1 [HSA:7466] [KO:K14020]",,,,,"See also H01704 Sudden sensorineural hearing loss, H00604 Deafness, autosomal dominant, and H00605 Deafness, autosomal recessive.","ICD-11: AB51.1
 ICD-10: H90.3 H91.2
 MeSH: D006312
 OMIM: 604717 601386 601369 600101 601543 603629 601072 600965","PMID:24331736
 著者        Sara SA, Teh BM, Friedland P
 タイトル      Bilateral sudden sensorineural hearing loss: review.
 雑誌        J Laryngol Otol 128 Suppl 1:S8-15 (2014)
 DOI:10.1017/S002221511300306X
 PMID:26944135
 著者        Chen YH, Young YH
 タイトル      Bilateral simultaneous sudden sensorineural hearing loss.
 雑誌        J Neurol Sci 362:139-43 (2016)
 DOI:10.1016/j.jns.2016.01.029
 PMID:20301607
 著者        Smith RJH, Shearer AE, Hildebrand MS, Van Camp G
 タイトル      Deafness and Hereditary Hearing Loss Overview
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01705"">H01705</a>","若年発症型両側性感音難聴;
 突発性両側性感音難聴","Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be mostly related to serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer prognosis following treatment, and more significant impairment in morbidity and overall quality of life.",,"ACTG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:71"">71</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]
 CDH23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64072"">64072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06813"">K06813</a>]
 COCH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1690"">1690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23574"">K23574</a>]
 KCNQ4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9132"">9132</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04929"">K04929</a>]
 TECTA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7007"">7007</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18273"">K18273</a>]
 TMPRSS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64699"">64699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09634"">K09634</a>]
 WFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7466"">7466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14020"">K14020</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01704"">H01704</a> Sudden sensorineural hearing loss, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00604"">H00604</a> Deafness, autosomal dominant, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00605"">H00605</a> Deafness, autosomal recessive.","ICD-11: AB51.1
 ICD-10: H90.3 H91.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006312"">D006312</a>
 OMIM: <a href=""https://www.omim.org/entry/604717"">604717</a> <a href=""https://www.omim.org/entry/601386"">601386</a> <a href=""https://www.omim.org/entry/601369"">601369</a> <a href=""https://www.omim.org/entry/600101"">600101</a> <a href=""https://www.omim.org/entry/601543"">601543</a> <a href=""https://www.omim.org/entry/603629"">603629</a> <a href=""https://www.omim.org/entry/601072"">601072</a> <a href=""https://www.omim.org/entry/600965"">600965</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24331736"">24331736</a>
 著者        Sara SA, Teh BM, Friedland P
 タイトル      Bilateral sudden sensorineural hearing loss: review.
 雑誌        J Laryngol Otol 128 Suppl 1:S8-15 (2014)
 DOI:<a href=""https://doi.org/10.1017/S002221511300306X"">10.1017/S002221511300306X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26944135"">26944135</a>
 著者        Chen YH, Young YH
 タイトル      Bilateral simultaneous sudden sensorineural hearing loss.
 雑誌        J Neurol Sci 362:139-43 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2016.01.029"">10.1016/j.jns.2016.01.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301607"">20301607</a>
 著者        Smith RJH, Shearer AE, Hildebrand MS, Van Camp G
 タイトル      Deafness and Hereditary Hearing Loss Overview
 雑誌        GeneReviews (1993)"
H01706,遅発性内リンパ水腫,,,"Delayed endolymphatic hydrops (DEH) is a disorder, characterized by episodic vertigo that develops some time after the onset of a profound, typically unilateral sensorineural hearing loss. DEH can be differentiated from Meniere's disease. The age of onset of symptoms is typically in later childhood and adolescence or between 40 and 60 years of age. DEH probably is caused by atrophy or fibrous obliteration of the endolymphatic resorptive system of the membranous labyrinth. It has been reported that genetic factors may sometimes be the cause of this disease. Two types of DEH exist: the ipsilateral type, in which the ear with profound hearing loss suffers progressive endolymphatic hydrops, and the contralateral type, in which the formation of progressive endolymphatic hydrops takes place in the ear opposite to the previously deafened ear. DEH requires conservative treatment, such as that typically used for Meniere's disease, including the appropriate concomitant use of diuretics, such as isosorbide or steroids for at least 3-6 months. When recurrent episodic vertigo cannot be remedied through conservative treatment, labyrinthectomy and vestibular neurectomy on the deaf ear are curative for ipsilateral DEH. However, no such surgical treatment is available for the contralateral type.",神経系疾患,,,,,,,See also H01495 Meniere disease.,"ICD-11: AB31.0
 ICD-10: H81.0
 MeSH: D018159
 OMIM: 612097","PMID:17497713
 著者        Dodson KM, Kamei T, Sismanis A, Nance WE
 タイトル      Familial unilateral deafness and delayed endolymphatic hydrops.
 雑誌        Am J Med Genet A 143A:1661-5 (2007)
 DOI:10.1002/ajmg.a.31741
 PMID:15732511 (drug)
 著者        Kamei T
 タイトル      Delayed endolymphatic hydrops as a clinical entity.
 雑誌        Int Tinnitus J 10:137-43 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01706"">H01706</a>",遅発性内リンパ水腫,"Delayed endolymphatic hydrops (DEH) is a disorder, characterized by episodic vertigo that develops some time after the onset of a profound, typically unilateral sensorineural hearing loss. DEH can be differentiated from Meniere's disease. The age of onset of symptoms is typically in later childhood and adolescence or between 40 and 60 years of age. DEH probably is caused by atrophy or fibrous obliteration of the endolymphatic resorptive system of the membranous labyrinth. It has been reported that genetic factors may sometimes be the cause of this disease. Two types of DEH exist: the ipsilateral type, in which the ear with profound hearing loss suffers progressive endolymphatic hydrops, and the contralateral type, in which the formation of progressive endolymphatic hydrops takes place in the ear opposite to the previously deafened ear. DEH requires conservative treatment, such as that typically used for Meniere's disease, including the appropriate concomitant use of diuretics, such as isosorbide or steroids for at least 3-6 months. When recurrent episodic vertigo cannot be remedied through conservative treatment, labyrinthectomy and vestibular neurectomy on the deaf ear are curative for ipsilateral DEH. However, no such surgical treatment is available for the contralateral type.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01495"">H01495</a> Meniere disease.","ICD-11: AB31.0
 ICD-10: H81.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018159"">D018159</a>
 OMIM: <a href=""https://www.omim.org/entry/612097"">612097</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17497713"">17497713</a>
 著者        Dodson KM, Kamei T, Sismanis A, Nance WE
 タイトル      Familial unilateral deafness and delayed endolymphatic hydrops.
 雑誌        Am J Med Genet A 143A:1661-5 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31741"">10.1002/ajmg.a.31741</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15732511"">15732511</a> (drug)
 著者        Kamei T
 タイトル      Delayed endolymphatic hydrops as a clinical entity.
 雑誌        Int Tinnitus J 10:137-43 (2004)"
H01707,黄色靭帯骨化症,,,"Ossified ligamentum flavum (OLF) is a condition of heterotopic lamellar bone formation within the yellow ligament. OLF is a widely described pathology in eastern Asia and rare in other parts of the world. The disease process first causes hypertrophy of the ligamentum flavum and subsequent ossification, which narrows the spinal canal and leads to myeloradiculopathy. The lower thoracic spine is most commonly affected. Previous hyperkyphosis and mechanical stress are thought to be predisposing conditions. It is tempting to think that OLF is genetically or pathologically inherited based on abnormalities of calcium or phosphate metabolism, on endocrinologic abnormalities, or on the presence of autoimmune disease. Such relationships, however, have not been documented. Treatment of cervical stenosis related to OLF is based on the standard principle of managing neural spinal abnormalities. Acute episodes of pain and onset of or increase in neurological deficits are treated with rest, external spinal immobilization with a collar or brace, and analgesics, anti-inflammatory, and/or antispasmodic medicines. Surgery is indicated for patients with acute or chronic progression of neurological deficits or persistent neurological deficits.",筋骨格疾患,,,,,,,See also H00431 Ossification of the posterior longitudinal ligament of spine.,"ICD-11: FA83
 ICD-10: M48.8
 MeSH: D017887","PMID:21600492
 著者        Sonntag VK
 タイトル      Ossification of the ligamentum flavum (OLF): an increasing cause of cervical myelopathy.
 雑誌        World Neurosurg 75:445-6 (2011)
 DOI:10.1016/j.wneu.2010.12.022
 PMID:26885431
 著者        Burke SM, Hwang SW, Safain MG, Riesenburger RI
 タイトル      Iatrogenic Spinal Cord Injury during Removal of the Inferior Articular Process in the Presence of Ossification of the Ligamentum Flavum.
 雑誌        Case Rep Surg 2016:2318759 (2016)
 DOI:10.1155/2016/2318759
 PMID:24083054
 著者        Toledo JA, Isseldyk FV, Re M, Garrote M
 タイトル      Ossification of the ligamentum flavum as cause of thoracic cord compression: Case report of a Latin American man and review of the literature.
 雑誌        Surg Neurol Int 4:119 (2013)
 DOI:10.4103/2152-7806.118489","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01707"">H01707</a>",黄色靭帯骨化症,"Ossified ligamentum flavum (OLF) is a condition of heterotopic lamellar bone formation within the yellow ligament. OLF is a widely described pathology in eastern Asia and rare in other parts of the world. The disease process first causes hypertrophy of the ligamentum flavum and subsequent ossification, which narrows the spinal canal and leads to myeloradiculopathy. The lower thoracic spine is most commonly affected. Previous hyperkyphosis and mechanical stress are thought to be predisposing conditions. It is tempting to think that OLF is genetically or pathologically inherited based on abnormalities of calcium or phosphate metabolism, on endocrinologic abnormalities, or on the presence of autoimmune disease. Such relationships, however, have not been documented. Treatment of cervical stenosis related to OLF is based on the standard principle of managing neural spinal abnormalities. Acute episodes of pain and onset of or increase in neurological deficits are treated with rest, external spinal immobilization with a collar or brace, and analgesics, anti-inflammatory, and/or antispasmodic medicines. Surgery is indicated for patients with acute or chronic progression of neurological deficits or persistent neurological deficits.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00431"">H00431</a> Ossification of the posterior longitudinal ligament of spine.","ICD-11: FA83
 ICD-10: M48.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017887"">D017887</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21600492"">21600492</a>
 著者        Sonntag VK
 タイトル      Ossification of the ligamentum flavum (OLF): an increasing cause of cervical myelopathy.
 雑誌        World Neurosurg 75:445-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.wneu.2010.12.022"">10.1016/j.wneu.2010.12.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26885431"">26885431</a>
 著者        Burke SM, Hwang SW, Safain MG, Riesenburger RI
 タイトル      Iatrogenic Spinal Cord Injury during Removal of the Inferior Articular Process in the Presence of Ossification of the Ligamentum Flavum.
 雑誌        Case Rep Surg 2016:2318759 (2016)
 DOI:<a href=""https://doi.org/10.1155/2016/2318759"">10.1155/2016/2318759</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24083054"">24083054</a>
 著者        Toledo JA, Isseldyk FV, Re M, Garrote M
 タイトル      Ossification of the ligamentum flavum as cause of thoracic cord compression: Case report of a Latin American man and review of the literature.
 雑誌        Surg Neurol Int 4:119 (2013)
 DOI:<a href=""https://doi.org/10.4103/2152-7806.118489"">10.4103/2152-7806.118489</a>"
H01708,"広汎性特発性骨増殖症;
 フォレスティエ病;
 強直性脊椎骨増殖症;
 前縦靭帯骨化症",,,"Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and involves the ossification of the anterior longitudinal ligament (OALL). Although it is asymptomatic in some occasions, the disease may produce dysphagia, dysphonia, and exceptionally breathing difficulties due to airway compromise. In these cases, early surgery is recommended to alleviate airway obstruction. Although the hallmark of the DISH is considered to be the anterolateral aspect of the thoracic spine, various signs and symptoms are not limited to the spine and have often been reported to involve multiple peripheral locations as well. While the cause of DISH remains unclear, mechanical factors, genetic factors, environmental factors, drugs, and metabolic conditions have been hypothesized to be relevant. Most of the current theories focus on the pathologic OALL. There's no cure for DISH. Therapy for DISH is based on symptomatic and empiric treatment. In general, physical therapy, analgesics, antiinflammatory drugs, and muscle relaxants have been successful in managing the majority of patients with DISH.",筋骨格疾患,,,,Vitamin A derivatives,,,"OPLL, OALL, and DISH may coexist.
 See also H00431 Ossification of the posterior longitudinal ligament of spine (OPLL).","ICD-11: FA72.0
 ICD-10: M48.1
 MeSH: D004057
 OMIM: 106400","PMID:24843807
 著者        Nascimento FA, Gatto LA, Lages RO, Neto HM, Demartini Z, Koppe GL
 タイトル      Diffuse idiopathic skeletal hyperostosis: A review.
 雑誌        Surg Neurol Int 5:S122-5 (2014)
 DOI:10.4103/2152-7806.130675
 PMID:19091295
 著者        Caminos CB, Cenoz IZ, Louis CJ, Otano TB, Esain BF, Perez de Ciriza MT
 タイトル      Forestier disease: an unusual cause of upper airway obstruction.
 雑誌        Am J Emerg Med 26:1072.e1-3 (2008)
 DOI:10.1016/j.ajem.2008.03.048","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01708"">H01708</a>","広汎性特発性骨増殖症;
 フォレスティエ病;
 強直性脊椎骨増殖症;
 前縦靭帯骨化症","Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and involves the ossification of the anterior longitudinal ligament (OALL). Although it is asymptomatic in some occasions, the disease may produce dysphagia, dysphonia, and exceptionally breathing difficulties due to airway compromise. In these cases, early surgery is recommended to alleviate airway obstruction. Although the hallmark of the DISH is considered to be the anterolateral aspect of the thoracic spine, various signs and symptoms are not limited to the spine and have often been reported to involve multiple peripheral locations as well. While the cause of DISH remains unclear, mechanical factors, genetic factors, environmental factors, drugs, and metabolic conditions have been hypothesized to be relevant. Most of the current theories focus on the pathologic OALL. There's no cure for DISH. Therapy for DISH is based on symptomatic and empiric treatment. In general, physical therapy, analgesics, antiinflammatory drugs, and muscle relaxants have been successful in managing the majority of patients with DISH.",,,,Vitamin A derivatives,,,"OPLL, OALL, and DISH may coexist.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00431"">H00431</a> Ossification of the posterior longitudinal ligament of spine (OPLL).","ICD-11: FA72.0
 ICD-10: M48.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004057"">D004057</a>
 OMIM: <a href=""https://www.omim.org/entry/106400"">106400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24843807"">24843807</a>
 著者        Nascimento FA, Gatto LA, Lages RO, Neto HM, Demartini Z, Koppe GL
 タイトル      Diffuse idiopathic skeletal hyperostosis: A review.
 雑誌        Surg Neurol Int 5:S122-5 (2014)
 DOI:<a href=""https://doi.org/10.4103/2152-7806.130675"">10.4103/2152-7806.130675</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19091295"">19091295</a>
 著者        Caminos CB, Cenoz IZ, Louis CJ, Otano TB, Esain BF, Perez de Ciriza MT
 タイトル      Forestier disease: an unusual cause of upper airway obstruction.
 雑誌        Am J Emerg Med 26:1072.e1-3 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajem.2008.03.048"">10.1016/j.ajem.2008.03.048</a>"
H01709,特発性ステロイド性骨壊死症,,,"Glucocorticoid-induced osteonecrosis is a common and severe adverse event. Glucocorticoid use is one of the most important causes of osteonecrosis. In patients receiving long-term therapy, glucocorticoids induce fractures in 30 to 50% and osteonecrosis in 9 to 40%. The pathogenesis of glucocorticoid-induced osteonecrosis is not fully understood but postulated mechanisms include hyperlipidemia, fat emboli and intravascular coagulation that reduce the supply of blood to the bones. Since not all patients who are treated with steroids develop osteonecrosis, the presence of additional risk factors or individual variation of glucocorticoids sensitivity has been suggested. The risks of this disease include advancing age, prolonged duration of treatment, increased daily dosage and cumulative dose, low body mass index, underlying disease, and polymorphisms in the glucocorticoid receptor. Bisphosphonates are first-line options for glucocorticoid-induced osteoporosis and may also be useful in glucocorticoid-induced osteonecrosis. It has been indicated that bisphosphonates may rapidly reduce pain, and delay joint collapse in patients with osteonecrosis.",筋骨格疾患,,"HSD11B2 (polymorphism) [HSA:3291] [KO:K00071]
 VEGF (polymorphism) [HSA:7422] [KO:K05448]
 COL2A1 (polymorphism) [HSA:1280] [KO:K19719]
 NR3C1 (polymorphism) [HSA:2908] [KO:K05771]
 SERPINE1 (polymorphism) [HSA:5054] [KO:K03982]
 ABCB1 (polymorphism) [HSA:5243] [KO:K05658]",,Glucocorticoid,,,See also H01529 Avascular necrosis of femoral head.,"ICD-11: FB81.2
 ICD-10: M87.1
 MeSH: D005271","PMID:21732837
 著者        Weinstein RS
 タイトル      Clinical practice. Glucocorticoid-induced bone disease.
 雑誌        N Engl J Med 365:62-70 (2011)
 DOI:10.1056/NEJMcp1012926
 PMID:22169965
 著者        Weinstein RS
 タイトル      Glucocorticoid-induced osteonecrosis.
 雑誌        Endocrine 41:183-90 (2012)
 DOI:10.1007/s12020-011-9580-0
 PMID:23357434
 著者        Gong LL, Fang LH, Wang HY, Peng JH, Si K, Zhu J, Han FF, Wang YH, Du GH, Pei LX, Liu LH
 タイトル      Genetic risk factors for glucocorticoid-induced osteonecrosis: a meta-analysis.
 雑誌        Steroids 78:401-8 (2013)
 DOI:10.1016/j.steroids.2013.01.004
 PMID:22877431 (drug)
 著者        Weinstein RS
 タイトル      Glucocorticoid-induced osteoporosis and osteonecrosis.
 雑誌        Endocrinol Metab Clin North Am 41:595-611 (2012)
 DOI:10.1016/j.ecl.2012.04.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01709"">H01709</a>",特発性ステロイド性骨壊死症,"Glucocorticoid-induced osteonecrosis is a common and severe adverse event. Glucocorticoid use is one of the most important causes of osteonecrosis. In patients receiving long-term therapy, glucocorticoids induce fractures in 30 to 50% and osteonecrosis in 9 to 40%. The pathogenesis of glucocorticoid-induced osteonecrosis is not fully understood but postulated mechanisms include hyperlipidemia, fat emboli and intravascular coagulation that reduce the supply of blood to the bones. Since not all patients who are treated with steroids develop osteonecrosis, the presence of additional risk factors or individual variation of glucocorticoids sensitivity has been suggested. The risks of this disease include advancing age, prolonged duration of treatment, increased daily dosage and cumulative dose, low body mass index, underlying disease, and polymorphisms in the glucocorticoid receptor. Bisphosphonates are first-line options for glucocorticoid-induced osteoporosis and may also be useful in glucocorticoid-induced osteonecrosis. It has been indicated that bisphosphonates may rapidly reduce pain, and delay joint collapse in patients with osteonecrosis.",,"HSD11B2 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3291"">3291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00071"">K00071</a>]
 VEGF (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]
 COL2A1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]
 NR3C1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2908"">2908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05771"">K05771</a>]
 SERPINE1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5054"">5054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03982"">K03982</a>]
 ABCB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5243"">5243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05658"">K05658</a>]",,Glucocorticoid,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01529"">H01529</a> Avascular necrosis of femoral head.","ICD-11: FB81.2
 ICD-10: M87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005271"">D005271</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21732837"">21732837</a>
 著者        Weinstein RS
 タイトル      Clinical practice. Glucocorticoid-induced bone disease.
 雑誌        N Engl J Med 365:62-70 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMcp1012926"">10.1056/NEJMcp1012926</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22169965"">22169965</a>
 著者        Weinstein RS
 タイトル      Glucocorticoid-induced osteonecrosis.
 雑誌        Endocrine 41:183-90 (2012)
 DOI:<a href=""https://doi.org/10.1007/s12020-011-9580-0"">10.1007/s12020-011-9580-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23357434"">23357434</a>
 著者        Gong LL, Fang LH, Wang HY, Peng JH, Si K, Zhu J, Han FF, Wang YH, Du GH, Pei LX, Liu LH
 タイトル      Genetic risk factors for glucocorticoid-induced osteonecrosis: a meta-analysis.
 雑誌        Steroids 78:401-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.steroids.2013.01.004"">10.1016/j.steroids.2013.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22877431"">22877431</a> (drug)
 著者        Weinstein RS
 タイトル      Glucocorticoid-induced osteoporosis and osteonecrosis.
 雑誌        Endocrinol Metab Clin North Am 41:595-611 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ecl.2012.04.004"">10.1016/j.ecl.2012.04.004</a>"
H01710,混合性結合組織病,,,"Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated antibodies to U1 small nuclear ribonucleoprotein (U1-RNP). The most common clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal, and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Therapy should be individualised for each patient to address the specific organs involved and the severity of underlying disease activity. Inflammatory manifestations usually respond to steroid treatment, whereas clinical sclerodermatous manifestations such as sclerodactyly, and pulmonary interstitial disease more often require cytotoxic immunosuppressive treatment.",免疫系疾患,,,,,,"メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 アザチオプリン [DR:D00238]
 シクロホスファミド水和物 [DR:D00287]","See also H00080 Systemic lupus erythematosus, H01492 Systemic sclerosis, and H01604 Polymyositis and dermatomyositis.","ICD-11: 4A43.3
 ICD-10: M35.1
 MeSH: D008947","PMID:27421219
 著者        Gunnarsson R, Hetlevik SO, Lilleby V, Molberg O
 タイトル      Mixed connective tissue disease.
 雑誌        Best Pract Res Clin Rheumatol 30:95-111 (2016)
 DOI:10.1016/j.berh.2016.03.002
 PMID:27238624 (drug)
 著者        Sato S, Yashiro M, Matsuoka N, Uematsu M, Asano T, Kobayashi H, Watanabe H, Ohira H
 タイトル      Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis.
 雑誌        Tohoku J Exp Med 239:111-6 (2016)
 DOI:10.1620/tjem.239.111
 PMID:22424193 (drug)
 著者        Ortega-Hernandez OD, Shoenfeld Y
 タイトル      Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment.
 雑誌        Best Pract Res Clin Rheumatol 26:61-72 (2012)
 DOI:10.1016/j.berh.2012.01.009
 PMID:25558707 (drug)
 著者        Zold E, Bodolay E, Dezso B, Soos G, Nakken B, Szodoray P
 タイトル      Mixed connective tissue disease associated with autoimmune hepatitis and pulmonary fibrosis.
 雑誌        Isr Med Assoc J 16:733-4 (2014)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01710"">H01710</a>",混合性結合組織病,"Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated antibodies to U1 small nuclear ribonucleoprotein (U1-RNP). The most common clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal, and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Therapy should be individualised for each patient to address the specific organs involved and the severity of underlying disease activity. Inflammatory manifestations usually respond to steroid treatment, whereas clinical sclerodermatous manifestations such as sclerodactyly, and pulmonary interstitial disease more often require cytotoxic immunosuppressive treatment.",,,,,,"メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 アザチオプリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00238"">D00238</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00080"">H00080</a> Systemic lupus erythematosus, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01492"">H01492</a> Systemic sclerosis, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01604"">H01604</a> Polymyositis and dermatomyositis.","ICD-11: 4A43.3
 ICD-10: M35.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008947"">D008947</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27421219"">27421219</a>
 著者        Gunnarsson R, Hetlevik SO, Lilleby V, Molberg O
 タイトル      Mixed connective tissue disease.
 雑誌        Best Pract Res Clin Rheumatol 30:95-111 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2016.03.002"">10.1016/j.berh.2016.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27238624"">27238624</a> (drug)
 著者        Sato S, Yashiro M, Matsuoka N, Uematsu M, Asano T, Kobayashi H, Watanabe H, Ohira H
 タイトル      Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis.
 雑誌        Tohoku J Exp Med 239:111-6 (2016)
 DOI:<a href=""https://doi.org/10.1620/tjem.239.111"">10.1620/tjem.239.111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22424193"">22424193</a> (drug)
 著者        Ortega-Hernandez OD, Shoenfeld Y
 タイトル      Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment.
 雑誌        Best Pract Res Clin Rheumatol 26:61-72 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2012.01.009"">10.1016/j.berh.2012.01.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25558707"">25558707</a> (drug)
 著者        Zold E, Bodolay E, Dezso B, Soos G, Nakken B, Szodoray P
 タイトル      Mixed connective tissue disease associated with autoimmune hepatitis and pulmonary fibrosis.
 雑誌        Isr Med Assoc J 16:733-4 (2014)"
H01711,脊柱管狭窄,,,"Spinal stenosis is an abnormal narrowing of the spinal canal that mainly occurs in the cervical and lumbar regions. Cervical stenosis presents with axial neck pain, radiculopathy, myelopathy, or a combination of these presentations. Axial pain refers to pain that occurs along the spinal column, while radiculopathy refers to complaints in a dermatomal or myotomal distribution often occurring in the arms. Patients may complain of numbness, pain or loss of function. Myelopathy refers to a cluster of complaints and findings due to intrinsic damage to the spinal cord itself. Patients might report numbness, coordination and gait issues, grip weakness and bowel and bladder complaint. Lumbar spinal stenosis is a major cause of pain and functional disability for the elderly. Neurogenic claudication symptoms are a hallmark of lumbar spinal stenosis, where patients develop low back or leg pain when walking or standing that is relieved by sitting or lumbar flexion. The treatment of lumbar spinal stenosis generally begins with conservative management such as physical therapy, home exercise programs, and oral analgesics. Once these therapies fail, patients commonly move forward with interventional pain treatment options such as epidural steroid injections (ESIs), nerve block, or surgery as the next step. Coexisting lumbar and cervical stenosis (tandem spinal stenosis) is an infrequent presentation with mixed presentation of upper motor neuron and lower motor neuron signs. But very few reports of tandem spinal stenosis are available.",筋骨格疾患,,,,,,リマプロストアルファデクス [DR:D02860],,"ICD-11: FA82
 ICD-10: M48.0
 MeSH: D013130
 OMIM: 152550","PMID:22021015
 著者        Todd AG
 タイトル      Cervical spine: degenerative conditions.
 雑誌        Curr Rev Musculoskelet Med 4:168-74 (2011)
 DOI:10.1007/s12178-011-9099-2
 PMID:27228511
 著者        Benyamin RM, Staats PS, MiDAS Encore I
 タイトル      MILD(R) Is an Effective Treatment for Lumbar Spinal Stenosis with Neurogenic Claudication: MiDAS ENCORE Randomized Controlled Trial.
 雑誌        Pain Physician 19:229-42 (2016)
 PMID:23793607
 著者        Krishnan A, Dave BR, Kambar AK, Ram H
 タイトル      Coexisting lumbar and cervical stenosis (tandem spinal stenosis): an infrequent presentation. Retrospective analysis of single-stage surgery (53 cases).
 雑誌        Eur Spine J 23:64-73 (2014)
 DOI:10.1007/s00586-013-2868-4
 PMID:20428988 (drug)
 著者        Tran DQ, Duong S, Finlayson RJ
 タイトル      Lumbar spinal stenosis: a brief review of the nonsurgical management.
 雑誌        Can J Anaesth 57:694-703 (2010)
 DOI:10.1007/s12630-010-9315-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01711"">H01711</a>",脊柱管狭窄,"Spinal stenosis is an abnormal narrowing of the spinal canal that mainly occurs in the cervical and lumbar regions. Cervical stenosis presents with axial neck pain, radiculopathy, myelopathy, or a combination of these presentations. Axial pain refers to pain that occurs along the spinal column, while radiculopathy refers to complaints in a dermatomal or myotomal distribution often occurring in the arms. Patients may complain of numbness, pain or loss of function. Myelopathy refers to a cluster of complaints and findings due to intrinsic damage to the spinal cord itself. Patients might report numbness, coordination and gait issues, grip weakness and bowel and bladder complaint. Lumbar spinal stenosis is a major cause of pain and functional disability for the elderly. Neurogenic claudication symptoms are a hallmark of lumbar spinal stenosis, where patients develop low back or leg pain when walking or standing that is relieved by sitting or lumbar flexion. The treatment of lumbar spinal stenosis generally begins with conservative management such as physical therapy, home exercise programs, and oral analgesics. Once these therapies fail, patients commonly move forward with interventional pain treatment options such as epidural steroid injections (ESIs), nerve block, or surgery as the next step. Coexisting lumbar and cervical stenosis (tandem spinal stenosis) is an infrequent presentation with mixed presentation of upper motor neuron and lower motor neuron signs. But very few reports of tandem spinal stenosis are available.",,,,,,"リマプロストアルファデクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02860"">D02860</a>]",,"ICD-11: FA82
 ICD-10: M48.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013130"">D013130</a>
 OMIM: <a href=""https://www.omim.org/entry/152550"">152550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22021015"">22021015</a>
 著者        Todd AG
 タイトル      Cervical spine: degenerative conditions.
 雑誌        Curr Rev Musculoskelet Med 4:168-74 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12178-011-9099-2"">10.1007/s12178-011-9099-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27228511"">27228511</a>
 著者        Benyamin RM, Staats PS, MiDAS Encore I
 タイトル      MILD(R) Is an Effective Treatment for Lumbar Spinal Stenosis with Neurogenic Claudication: MiDAS ENCORE Randomized Controlled Trial.
 雑誌        Pain Physician 19:229-42 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23793607"">23793607</a>
 著者        Krishnan A, Dave BR, Kambar AK, Ram H
 タイトル      Coexisting lumbar and cervical stenosis (tandem spinal stenosis): an infrequent presentation. Retrospective analysis of single-stage surgery (53 cases).
 雑誌        Eur Spine J 23:64-73 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00586-013-2868-4"">10.1007/s00586-013-2868-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20428988"">20428988</a> (drug)
 著者        Tran DQ, Duong S, Finlayson RJ
 タイトル      Lumbar spinal stenosis: a brief review of the nonsurgical management.
 雑誌        Can J Anaesth 57:694-703 (2010)
 DOI:<a href=""https://doi.org/10.1007/s12630-010-9315-3"">10.1007/s12630-010-9315-3</a>"
H01712,"劇症肝炎
 下位グループ    ウイルス性肝炎 [DS:H02162]",,,"Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of hepatic encephalopathy within 8 weeks of the appearance of the first symptoms like jaundice, fever, nausea, and vomiting. The prothrombin time is prolonged by 4-6 seconds or more. While the etiologies of FHF are multiple and varied, viral hepatitis is the most frequent cause. Around 40-60% of patients with FHF are thought to be due to some viral infection. The prognosis is dependent on several factors, including the underlying cause of liver failure. For instance, it is well known that the spontaneous recovery rates from FHF from such etiologies as hepatitis A and acetaminophen toxicity are high, whereas those same rates for other types of viral hepatitis and idiosyncratic drug reactions are quite low. Identification of the cause of FHF is important because some causes have specific treatment interventions or antidotes. Specific therapies include N-acetylcysteine for acetaminophen overdose, and acyclovir for herpesvirus infection. Different therapeutic options such as complete exchange blood transfusion, corticosteroids, and plasma pheresis, have been tried. However, the overall prognosis for patients with FHF is quite poor, with survival rates usually reported between 10% and 30% without liver transplantation.",肝疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]",,"ICD-11: DB91.1
 ICD-10: K72
 MeSH: D017114","PMID:26430449
 著者        Younis BB, Arshad R, Khurhsid S, Masood J, Nazir F, Tahira M
 タイトル      Fulminant hepatic failure (FHF) due to acute hepatitis C.
 雑誌        Pak J Med Sci 31:1009-11 (2015)
 DOI:10.12669/pjms.314.7618
 PMID:12724633
 著者        Farmer DG, Anselmo DM, Ghobrial RM, Yersiz H, McDiarmid SV, Cao C, Weaver M, Figueroa J, Khan K, Vargas J, Saab S, Han S, Durazo F, Goldstein L, Holt C, Busuttil RW
 タイトル      Liver transplantation for fulminant hepatic failure: experience with more than 200 patients over a 17-year period.
 雑誌        Ann Surg 237:666-75; discussion 675-6 (2003)
 DOI:10.1097/01.SLA.0000064365.54197.9E","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>","劇症肝炎
 下位グループ    ウイルス性肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>]","Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of hepatic encephalopathy within 8 weeks of the appearance of the first symptoms like jaundice, fever, nausea, and vomiting. The prothrombin time is prolonged by 4-6 seconds or more. While the etiologies of FHF are multiple and varied, viral hepatitis is the most frequent cause. Around 40-60% of patients with FHF are thought to be due to some viral infection. The prognosis is dependent on several factors, including the underlying cause of liver failure. For instance, it is well known that the spontaneous recovery rates from FHF from such etiologies as hepatitis A and acetaminophen toxicity are high, whereas those same rates for other types of viral hepatitis and idiosyncratic drug reactions are quite low. Identification of the cause of FHF is important because some causes have specific treatment interventions or antidotes. Specific therapies include N-acetylcysteine for acetaminophen overdose, and acyclovir for herpesvirus infection. Different therapeutic options such as complete exchange blood transfusion, corticosteroids, and plasma pheresis, have been tried. However, the overall prognosis for patients with FHF is quite poor, with survival rates usually reported between 10% and 30% without liver transplantation.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]",,"ICD-11: DB91.1
 ICD-10: K72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017114"">D017114</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26430449"">26430449</a>
 著者        Younis BB, Arshad R, Khurhsid S, Masood J, Nazir F, Tahira M
 タイトル      Fulminant hepatic failure (FHF) due to acute hepatitis C.
 雑誌        Pak J Med Sci 31:1009-11 (2015)
 DOI:<a href=""https://doi.org/10.12669/pjms.314.7618"">10.12669/pjms.314.7618</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12724633"">12724633</a>
 著者        Farmer DG, Anselmo DM, Ghobrial RM, Yersiz H, McDiarmid SV, Cao C, Weaver M, Figueroa J, Khan K, Vargas J, Saab S, Han S, Durazo F, Goldstein L, Holt C, Busuttil RW
 タイトル      Liver transplantation for fulminant hepatic failure: experience with more than 200 patients over a 17-year period.
 雑誌        Ann Surg 237:666-75; discussion 675-6 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.SLA.0000064365.54197.9E"">10.1097/01.SLA.0000064365.54197.9E</a>"
H01713,びまん性汎細気管支炎,,,"Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and sinobronchial infection. While DPB is frequently compared with cystic fibrosis, a common genetic disease encountered in Caucasians, neither pancreatic insufficiency nor any obvious abnormalities of the sweat electrolytes are seen in DPB, and the two are considered to be entirely different diseases. Immunogenetic studies revealed a strong association with human HLA-B54 in Japanese, whereas an association with HLA-A11 was reported in Koreans. These findings imply that a major susceptibility gene may be located between the HLA-A and HLA-B loci on the short arm of human chromosome 6. Recently, novel mucin-like genes has been cloned in this candidate region. And it was found that their polymorphisms were associated with DPB. Over the past two decades, DPB has shifted from being a near-fatal to a treatable disease. A significant improvement in the prognosis of this disease has been attributed to the long-term use of macrolides. The five-year survival rate increased to about 90% after treatment with erythromycin became widely used.",呼吸器疾患,,"HLA-A(polymorphism) [HSA:3105] [KO:K06751]
 HLA-B(polymorphism) [HSA:3106] [KO:K06751]
 MUC22(polymorphism) [HSA:100507679] [KO:K24296]
 HCG22(polymorphism) [HSA:285834] [KO:K24295]",,,,フドステイン [DR:D01845],See also H00218 Cystic fibrosis.,"ICD-11: CA26.1
 ICD-10: J44.8
 MeSH: C536174
 OMIM: 604809","PMID:26888742
 著者        Sugimoto S, Miyoshi K, Yamane M, Oto T
 タイトル      Lung transplantation for diffuse panbronchiolitis: 5 cases from a single centre.
 雑誌        Interact Cardiovasc Thorac Surg 22:679-81 (2016)
 DOI:10.1093/icvts/ivw008
 PMID:21303426
 著者        Keicho N, Hijikata M
 タイトル      Genetic predisposition to diffuse panbronchiolitis.
 雑誌        Respirology 16:581-8 (2011)
 DOI:10.1111/j.1440-1843.2011.01946.x
 PMID:20981447
 著者        Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S, Keicho N
 タイトル      Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis.
 雑誌        Hum Genet 129:117-28 (2011)
 DOI:10.1007/s00439-010-0906-4
 PMID:25618845 (drug)
 著者        Lin X, Lu J, Yang M, Dong BR, Wu HM
 タイトル      Macrolides for diffuse panbronchiolitis.
 雑誌        Cochrane Database Syst Rev 1:CD007716 (2015)
 DOI:10.1002/14651858.CD007716.pub4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01713"">H01713</a>",びまん性汎細気管支炎,"Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and sinobronchial infection. While DPB is frequently compared with cystic fibrosis, a common genetic disease encountered in Caucasians, neither pancreatic insufficiency nor any obvious abnormalities of the sweat electrolytes are seen in DPB, and the two are considered to be entirely different diseases. Immunogenetic studies revealed a strong association with human HLA-B54 in Japanese, whereas an association with HLA-A11 was reported in Koreans. These findings imply that a major susceptibility gene may be located between the HLA-A and HLA-B loci on the short arm of human chromosome 6. Recently, novel mucin-like genes has been cloned in this candidate region. And it was found that their polymorphisms were associated with DPB. Over the past two decades, DPB has shifted from being a near-fatal to a treatable disease. A significant improvement in the prognosis of this disease has been attributed to the long-term use of macrolides. The five-year survival rate increased to about 90% after treatment with erythromycin became widely used.",,"HLA-A(polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3105"">3105</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 HLA-B(polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3106"">3106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06751"">K06751</a>]
 MUC22(polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100507679"">100507679</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24296"">K24296</a>]
 HCG22(polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285834"">285834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24295"">K24295</a>]",,,,"フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00218"">H00218</a> Cystic fibrosis.","ICD-11: CA26.1
 ICD-10: J44.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536174"">C536174</a>
 OMIM: <a href=""https://www.omim.org/entry/604809"">604809</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26888742"">26888742</a>
 著者        Sugimoto S, Miyoshi K, Yamane M, Oto T
 タイトル      Lung transplantation for diffuse panbronchiolitis: 5 cases from a single centre.
 雑誌        Interact Cardiovasc Thorac Surg 22:679-81 (2016)
 DOI:<a href=""https://doi.org/10.1093/icvts/ivw008"">10.1093/icvts/ivw008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21303426"">21303426</a>
 著者        Keicho N, Hijikata M
 タイトル      Genetic predisposition to diffuse panbronchiolitis.
 雑誌        Respirology 16:581-8 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1440-1843.2011.01946.x"">10.1111/j.1440-1843.2011.01946.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20981447"">20981447</a>
 著者        Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S, Keicho N
 タイトル      Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis.
 雑誌        Hum Genet 129:117-28 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0906-4"">10.1007/s00439-010-0906-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25618845"">25618845</a> (drug)
 著者        Lin X, Lu J, Yang M, Dong BR, Wu HM
 タイトル      Macrolides for diffuse panbronchiolitis.
 雑誌        Cochrane Database Syst Rev 1:CD007716 (2015)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD007716.pub4"">10.1002/14651858.CD007716.pub4</a>"
H01714,慢性閉塞性肺疾患 (COPD),,,"Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation and progressive airflow obstruction, most commonly caused by cigarette smoking. The major symptoms of which patients complain are cough, breathlessness, and sputum production. COPD is associated with underlying inflammation in response to chronic exposure to noxious particulates and gases and with a number of comorbid conditions. The onset of COPD generally occurs in the 6th to 8th decades of life. Early onset COPD is defined as disease onset before the age of 50 years, irrespective of smoking history. The presence of persons with early onset, severely reduced pulmonary function suggests that individuals may vary in their genetic susceptibility to the effects of smoking. Alpha-1-antitrypsin deficiency is the only proven genetic risk factor for COPD. Bronchodilators are the mainstay of treatment since they improve lung function and reduce acute exacerbations. Long-acting inhaled bronchodilators are recommended as first line treatment for patients with persistent symptoms.",肺疾患,,"SERPINA1 [HSA:5265] [KO:K03984]
 HMOX1 [HSA:3162] [KO:K00510]
 MMP1 [HSA:4312] [KO:K01388]",,,,"dl-イソプレナリン塩酸塩 [DR:D01390]
 アミノフィリン水和物 [DR:D05429]
 アセタゾラミド [DR:D00218]
 アセタゾラミドナトリウム [DR:D01196]
 アセチルシステイン [DR:D00221]
 フドステイン [DR:D01845]
 テオフィリン [DR:D00371]
 フェノテロール臭化水素酸塩 [DR:D01428]
 テルブタリン硫酸塩 [DR:D00688]
 サルブタモール硫酸塩 [DR:D00683]
 グリコピロニウム臭化物 [DR:D00540]
 イプラトロピウム臭化物水和物 [DR:D02212]
 ツロブテロール塩酸塩 [DR:D01362]
 ツロブテロール [DR:D02151]
 サルメテロールキシナホ酸塩 [DR:D00687]
 ホルモテロールフマル酸塩水和物 [DR:D05277]
 クレンブテロール塩酸塩 [DR:D01360]
 プロカテロール塩酸塩水和物 [DR:D05366]
 インダカテロールマレイン酸塩 [DR:D09319]
 ウメクリジニウム臭化物・ビランテロール [DR:D10533]
 グリコピロニウム臭化物・インダカテロールマレイン酸塩 [DR:D10505]
 チオトロピウム・オロダテロール [DR:D10744]
 グリコピロニウム臭化物・ホルモテロール [DR:D11036]
 チオトロピウム臭化物水和物 [DR:D01929]
 アクリジニウム臭化物 [DR:D08837]
 ウメクリジニウム臭化物 [DR:D10181]
 サルメテロールキシナホ酸塩・フルチカゾンプロピオン酸エステル [DR:D08699]
 ブデソニド・ホルモテロールフマル酸塩水和物 [DR:D09595]
 フルチカゾンフランカルボン酸エステル・ビランテロールトリフェニル酢酸塩 [DR:D10501]
 フルチカゾンフランカルボン酸エステル・ウメクリジニウム臭化物・ビランテロール [DR:D11035]
 ブデソニド・グリコピロニウム臭化物・ホルモテロールフマル酸塩 [DR:D11584]",See also H01103 Alpha-1-antitrypsin (A1AT) deficiency,"ICD-11: CA22
 ICD-10: J43 J44
 MeSH: D029424
 OMIM: 606963","PMID:18046867
 著者        Smith J, Woodcock A
 タイトル      Cough and its importance in COPD.
 雑誌        Int J Chron Obstruct Pulmon Dis 1:305-14 (2006)
 DOI:10.2147/copd.2006.1.3.305
 PMID:23257530
 著者        Tsuchida T, Matsuse H, Nishino T, Kawano T, Fukushima C, Hayashi T, Kohno S
 タイトル      Pathologically confirmed, early-onset, severe chronic obstructive pulmonary disease.
 雑誌        Intern Med 51:3411-4 (2012)
 DOI:10.2169/internalmedicine.51.8331
 PMID:9620904
 著者        Silverman EK, Chapman HA, Drazen JM, Weiss ST, Rosner B, Campbell EJ, O'DONNELL WJ, Reilly JJ, Ginns L, Mentzer S, Wain J, Speizer FE
 タイトル      Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.
 雑誌        Am J Respir Crit Care Med 157:1770-8 (1998)
 DOI:10.1164/ajrccm.157.6.9706014
 PMID:10631150
 著者        Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, Sasaki H
 タイトル      Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema.
 雑誌        Am J Hum Genet 66:187-95 (2000)
 DOI:10.1086/302729
 PMID:11875051
 著者        Joos L, He JQ, Shepherdson MB, Connett JE, Anthonisen NR, Pare PD, Sandford AJ
 タイトル      The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.
 雑誌        Hum Mol Genet 11:569-76 (2002)
 DOI:10.1093/hmg/11.5.569","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01714"">H01714</a>",慢性閉塞性肺疾患 (COPD),"Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation and progressive airflow obstruction, most commonly caused by cigarette smoking. The major symptoms of which patients complain are cough, breathlessness, and sputum production. COPD is associated with underlying inflammation in response to chronic exposure to noxious particulates and gases and with a number of comorbid conditions. The onset of COPD generally occurs in the 6th to 8th decades of life. Early onset COPD is defined as disease onset before the age of 50 years, irrespective of smoking history. The presence of persons with early onset, severely reduced pulmonary function suggests that individuals may vary in their genetic susceptibility to the effects of smoking. Alpha-1-antitrypsin deficiency is the only proven genetic risk factor for COPD. Bronchodilators are the mainstay of treatment since they improve lung function and reduce acute exacerbations. Long-acting inhaled bronchodilators are recommended as first line treatment for patients with persistent symptoms.",,"SERPINA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5265"">5265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03984"">K03984</a>]
 HMOX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3162"">3162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00510"">K00510</a>]
 MMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4312"">4312</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01388"">K01388</a>]",,,,"dl-イソプレナリン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01390"">D01390</a>]
 アミノフィリン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05429"">D05429</a>]
 アセタゾラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00218"">D00218</a>]
 アセタゾラミドナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01196"">D01196</a>]
 アセチルシステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00221"">D00221</a>]
 フドステイン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01845"">D01845</a>]
 テオフィリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00371"">D00371</a>]
 フェノテロール臭化水素酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01428"">D01428</a>]
 テルブタリン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00688"">D00688</a>]
 サルブタモール硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00683"">D00683</a>]
 グリコピロニウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00540"">D00540</a>]
 イプラトロピウム臭化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02212"">D02212</a>]
 ツロブテロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01362"">D01362</a>]
 ツロブテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02151"">D02151</a>]
 サルメテロールキシナホ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00687"">D00687</a>]
 ホルモテロールフマル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05277"">D05277</a>]
 クレンブテロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01360"">D01360</a>]
 プロカテロール塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05366"">D05366</a>]
 インダカテロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09319"">D09319</a>]
 ウメクリジニウム臭化物・ビランテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10533"">D10533</a>]
 グリコピロニウム臭化物・インダカテロールマレイン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10505"">D10505</a>]
 チオトロピウム・オロダテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10744"">D10744</a>]
 グリコピロニウム臭化物・ホルモテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11036"">D11036</a>]
 チオトロピウム臭化物水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01929"">D01929</a>]
 アクリジニウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08837"">D08837</a>]
 ウメクリジニウム臭化物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10181"">D10181</a>]
 サルメテロールキシナホ酸塩・フルチカゾンプロピオン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08699"">D08699</a>]
 ブデソニド・ホルモテロールフマル酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09595"">D09595</a>]
 フルチカゾンフランカルボン酸エステル・ビランテロールトリフェニル酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10501"">D10501</a>]
 フルチカゾンフランカルボン酸エステル・ウメクリジニウム臭化物・ビランテロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11035"">D11035</a>]
 ブデソニド・グリコピロニウム臭化物・ホルモテロールフマル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11584"">D11584</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01103"">H01103</a> Alpha-1-antitrypsin (A1AT) deficiency","ICD-11: CA22
 ICD-10: J43 J44
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029424"">D029424</a>
 OMIM: <a href=""https://www.omim.org/entry/606963"">606963</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18046867"">18046867</a>
 著者        Smith J, Woodcock A
 タイトル      Cough and its importance in COPD.
 雑誌        Int J Chron Obstruct Pulmon Dis 1:305-14 (2006)
 DOI:<a href=""https://doi.org/10.2147/copd.2006.1.3.305"">10.2147/copd.2006.1.3.305</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23257530"">23257530</a>
 著者        Tsuchida T, Matsuse H, Nishino T, Kawano T, Fukushima C, Hayashi T, Kohno S
 タイトル      Pathologically confirmed, early-onset, severe chronic obstructive pulmonary disease.
 雑誌        Intern Med 51:3411-4 (2012)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.51.8331"">10.2169/internalmedicine.51.8331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9620904"">9620904</a>
 著者        Silverman EK, Chapman HA, Drazen JM, Weiss ST, Rosner B, Campbell EJ, O'DONNELL WJ, Reilly JJ, Ginns L, Mentzer S, Wain J, Speizer FE
 タイトル      Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.
 雑誌        Am J Respir Crit Care Med 157:1770-8 (1998)
 DOI:<a href=""https://doi.org/10.1164/ajrccm.157.6.9706014"">10.1164/ajrccm.157.6.9706014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10631150"">10631150</a>
 著者        Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, Sasaki H
 タイトル      Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema.
 雑誌        Am J Hum Genet 66:187-95 (2000)
 DOI:<a href=""https://doi.org/10.1086/302729"">10.1086/302729</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11875051"">11875051</a>
 著者        Joos L, He JQ, Shepherdson MB, Connett JE, Anthonisen NR, Pare PD, Sandford AJ
 タイトル      The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.
 雑誌        Hum Mol Genet 11:569-76 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.5.569"">10.1093/hmg/11.5.569</a>"
H01715,肥満低換気症候群,,,"Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity (BMI of 30 or higher), daytime hypoventilation, and sleep-disordered breathing in the absence of any other cause of hypoventilation. The features include marked obesity, somnolence, twitching, cyanosis, periodic respiration, polycythemia, and right ventricular hypertrophy and failure. Patients with untreated OHS have a significant risk of death. While continuous positive airway pressure (CPAP) treatments may temporize cardiopulmonary disease progression, simultaneous pursuit of weight reduction is central to long-term management of this condition.",呼吸器疾患,,,,,,,,"ICD-11: 7A42.0
 ICD-10: E66.2
 MeSH: D010845
 OMIM: 257500","PMID:20875161
 著者        Mokhlesi B
 タイトル      Obesity hypoventilation syndrome: a state-of-the-art review.
 雑誌        Respir Care 55:1347-62; discussion 1363-5 (2010)
 PMID:23094151 (marker)
 著者        Chanda A, Kwon JS, Wolff AJ, Manthous CA
 タイトル      Positive pressure for obesity hypoventilation syndrome.
 雑誌        Pulm Med 2012:568690 (2012)
 DOI:10.1155/2012/568690","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01715"">H01715</a>",肥満低換気症候群,"Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity (BMI of 30 or higher), daytime hypoventilation, and sleep-disordered breathing in the absence of any other cause of hypoventilation. The features include marked obesity, somnolence, twitching, cyanosis, periodic respiration, polycythemia, and right ventricular hypertrophy and failure. Patients with untreated OHS have a significant risk of death. While continuous positive airway pressure (CPAP) treatments may temporize cardiopulmonary disease progression, simultaneous pursuit of weight reduction is central to long-term management of this condition.",,,,,,,,"ICD-11: 7A42.0
 ICD-10: E66.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010845"">D010845</a>
 OMIM: <a href=""https://www.omim.org/entry/257500"">257500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20875161"">20875161</a>
 著者        Mokhlesi B
 タイトル      Obesity hypoventilation syndrome: a state-of-the-art review.
 雑誌        Respir Care 55:1347-62; discussion 1363-5 (2010)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23094151"">23094151</a> (marker)
 著者        Chanda A, Kwon JS, Wolff AJ, Manthous CA
 タイトル      Positive pressure for obesity hypoventilation syndrome.
 雑誌        Pulm Med 2012:568690 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/568690"">10.1155/2012/568690</a>"
H01716,特発性間質性肺炎,,,"Idiopathic interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature is distortion of lung interstitium by highly variable combinations of inflammation and fibrosis. Patients experience common symptoms related to their chronic lung disease. Dyspnoea, cough, fatigue and depression contribute substantially to morbidity and are often difficult to manage. It has been reported that pulmonary rehabilitation plays a central role in symptom management and has beneficial effects. According to the current American thoracic society/European respiratory society (ATS/ERS), IIPs are categorised as major IIPs, rare IIPs and unclassifiable IIPs. There are six major IIPs, namely, idiopathic pulmonary fibrosis (IPF), nonspecific interstitial pneumonia (NSIP), respiratory bronchiolitis-interstitial lung disease (RB-ILD), desquamative interstitial pneumonia (DIP), cryptogenic organizing pneumonia (COP), and acute interstitial pneumonia (AIP). And they are divided into three major groups; chronic fibrosing IIP (IPF, NSIP), smoking-related IIP (RB-ILD, DIP), and acute/ subacute IIP (COP, AIP). The rare IIPs include idiopathic lymphoid interstitial pneumonia (LIP) and idiopathic pleuroparenchymal fibroelastosis. IPF accounts for the majority of IIP. It is considered to be lethal because prognosis is very poor and far worse than other types of IIP. An early and accurate diagnosis of IPF is critical.",肺疾患,,,,,,ニンテダニブエタンスルホン酸塩 [DR:D10396],See also H01299 Idiopathic pulmonary fibrosis.,"ICD-11: CB03
 ICD-10: J84
 MeSH: D054988","PMID:24032382
 著者        Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D
 タイトル      An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.
 雑誌        Am J Respir Crit Care Med 188:733-48 (2013)
 DOI:10.1164/rccm.201308-1483ST
 PMID:24591661
 著者        Antoniou KM, Margaritopoulos GA, Tomassetti S, Bonella F, Costabel U, Poletti V
 タイトル      Interstitial lung disease.
 雑誌        Eur Respir Rev 23:40-54 (2014)
 DOI:10.1183/09059180.00009113
 PMID:26011188
 著者        Neurohr C, Behr J
 タイトル      Changes in the current classification of IIP: A critical review.
 雑誌        Respirology 20:699-704 (2015)
 DOI:10.1111/resp.12553
 PMID:26949346
 著者        Hashisako M, Fukuoka J
 タイトル      Pathology of Idiopathic Interstitial Pneumonias.
 雑誌        Clin Med Insights Circ Respir Pulm Med 9:123-33 (2015)
 DOI:10.4137/CCRPM.S23320
 PMID:26450007 (drug)
 著者        Garibaldi BT, Danoff SK
 タイトル      Symptom-based management of the idiopathic interstitial pneumonia.
 雑誌        Respirology 21:1357-1365 (2016)
 DOI:10.1111/resp.12649","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01716"">H01716</a>",特発性間質性肺炎,"Idiopathic interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature is distortion of lung interstitium by highly variable combinations of inflammation and fibrosis. Patients experience common symptoms related to their chronic lung disease. Dyspnoea, cough, fatigue and depression contribute substantially to morbidity and are often difficult to manage. It has been reported that pulmonary rehabilitation plays a central role in symptom management and has beneficial effects. According to the current American thoracic society/European respiratory society (ATS/ERS), IIPs are categorised as major IIPs, rare IIPs and unclassifiable IIPs. There are six major IIPs, namely, idiopathic pulmonary fibrosis (IPF), nonspecific interstitial pneumonia (NSIP), respiratory bronchiolitis-interstitial lung disease (RB-ILD), desquamative interstitial pneumonia (DIP), cryptogenic organizing pneumonia (COP), and acute interstitial pneumonia (AIP). And they are divided into three major groups; chronic fibrosing IIP (IPF, NSIP), smoking-related IIP (RB-ILD, DIP), and acute/ subacute IIP (COP, AIP). The rare IIPs include idiopathic lymphoid interstitial pneumonia (LIP) and idiopathic pleuroparenchymal fibroelastosis. IPF accounts for the majority of IIP. It is considered to be lethal because prognosis is very poor and far worse than other types of IIP. An early and accurate diagnosis of IPF is critical.",,,,,,"ニンテダニブエタンスルホン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10396"">D10396</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01299"">H01299</a> Idiopathic pulmonary fibrosis.","ICD-11: CB03
 ICD-10: J84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054988"">D054988</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24032382"">24032382</a>
 著者        Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D
 タイトル      An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias.
 雑誌        Am J Respir Crit Care Med 188:733-48 (2013)
 DOI:<a href=""https://doi.org/10.1164/rccm.201308-1483ST"">10.1164/rccm.201308-1483ST</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24591661"">24591661</a>
 著者        Antoniou KM, Margaritopoulos GA, Tomassetti S, Bonella F, Costabel U, Poletti V
 タイトル      Interstitial lung disease.
 雑誌        Eur Respir Rev 23:40-54 (2014)
 DOI:<a href=""https://doi.org/10.1183/09059180.00009113"">10.1183/09059180.00009113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26011188"">26011188</a>
 著者        Neurohr C, Behr J
 タイトル      Changes in the current classification of IIP: A critical review.
 雑誌        Respirology 20:699-704 (2015)
 DOI:<a href=""https://doi.org/10.1111/resp.12553"">10.1111/resp.12553</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26949346"">26949346</a>
 著者        Hashisako M, Fukuoka J
 タイトル      Pathology of Idiopathic Interstitial Pneumonias.
 雑誌        Clin Med Insights Circ Respir Pulm Med 9:123-33 (2015)
 DOI:<a href=""https://doi.org/10.4137/CCRPM.S23320"">10.4137/CCRPM.S23320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26450007"">26450007</a> (drug)
 著者        Garibaldi BT, Danoff SK
 タイトル      Symptom-based management of the idiopathic interstitial pneumonia.
 雑誌        Respirology 21:1357-1365 (2016)
 DOI:<a href=""https://doi.org/10.1111/resp.12649"">10.1111/resp.12649</a>"
H01717,視神経炎,,,"Optic neuritis is a demyelinating inflammatory disease of the optic nerve that presents with an abrupt loss of vision. The majority of patients are between the ages of 20 and 50 years, with a mean age ranging from 30 to 35 years. It occurs more commonly in women than in men. The onset is usually with pain on eye movement in one eye and subacute visual loss. One-third of patients have a mildly edematous optic disc. The visual disturbance resolves in 95% of cases. Many cases of optic neuritis are associated with multiple sclerosis or neuromyelitis optica or can occur in isolation. Occasionally, optic neuritis can result from infectious processes involving the paranasal sinuses or occur in the course of a systemic viral infection. High-dosed intravenous methylprednisolone therapy speeds recovery but does not improve the final outcome. For patients judged to be at high risk of developing multiple sclerosis, immune prophylaxis with beta-interferon or glatiramer acetate is recommended.",神経系疾患,,,,,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 コルチゾン酢酸エステル [DR:D00973]
 ベタメタゾン [DR:D00244]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 メチルプレドニゾロン酢酸エステル [DR:D00979]
 乾燥スルホ化人免疫グロブリン [DR:D08786]",See also H01490 Multiple sclerosis and H01491 Neuromyelitis optica.,"ICD-11: 9C40.1
 ICD-10: H46
 MeSH: D009902","PMID:22960967
 著者        Pedro-Egbe CN, Fiebai B, Ejimadu CS
 タイトル      Visual outcome following optic neuritis: a 5-year review.
 雑誌        Niger J Clin Pract 15:311-4 (2012)
 DOI:10.4103/1119-3077.100628
 PMID:26273799
 著者        Gal RL, Vedula SS, Beck R
 タイトル      Corticosteroids for treating optic neuritis.
 雑誌        Cochrane Database Syst Rev CD001430 (2015)
 DOI:10.1002/14651858.CD001430.pub4
 PMID:26396053 (drug)
 著者        Wilhelm H, Schabet M
 タイトル      The Diagnosis and Treatment of Optic Neuritis.
 雑誌        Dtsch Arztebl Int 112:616-25; quiz 626 (2015)
 DOI:10.3238/arztebl.2015.0616","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01717"">H01717</a>",視神経炎,"Optic neuritis is a demyelinating inflammatory disease of the optic nerve that presents with an abrupt loss of vision. The majority of patients are between the ages of 20 and 50 years, with a mean age ranging from 30 to 35 years. It occurs more commonly in women than in men. The onset is usually with pain on eye movement in one eye and subacute visual loss. One-third of patients have a mildly edematous optic disc. The visual disturbance resolves in 95% of cases. Many cases of optic neuritis are associated with multiple sclerosis or neuromyelitis optica or can occur in isolation. Occasionally, optic neuritis can result from infectious processes involving the paranasal sinuses or occur in the course of a systemic viral infection. High-dosed intravenous methylprednisolone therapy speeds recovery but does not improve the final outcome. For patients judged to be at high risk of developing multiple sclerosis, immune prophylaxis with beta-interferon or glatiramer acetate is recommended.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490"">H01490</a> Multiple sclerosis and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01491"">H01491</a> Neuromyelitis optica.","ICD-11: 9C40.1
 ICD-10: H46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009902"">D009902</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22960967"">22960967</a>
 著者        Pedro-Egbe CN, Fiebai B, Ejimadu CS
 タイトル      Visual outcome following optic neuritis: a 5-year review.
 雑誌        Niger J Clin Pract 15:311-4 (2012)
 DOI:<a href=""https://doi.org/10.4103/1119-3077.100628"">10.4103/1119-3077.100628</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26273799"">26273799</a>
 著者        Gal RL, Vedula SS, Beck R
 タイトル      Corticosteroids for treating optic neuritis.
 雑誌        Cochrane Database Syst Rev CD001430 (2015)
 DOI:<a href=""https://doi.org/10.1002/14651858.CD001430.pub4"">10.1002/14651858.CD001430.pub4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26396053"">26396053</a> (drug)
 著者        Wilhelm H, Schabet M
 タイトル      The Diagnosis and Treatment of Optic Neuritis.
 雑誌        Dtsch Arztebl Int 112:616-25; quiz 626 (2015)
 DOI:<a href=""https://doi.org/10.3238/arztebl.2015.0616"">10.3238/arztebl.2015.0616</a>"
H01718,川崎病,,,"Kawasaki disease (KD) is an acute systemic vasculitis of childhood that does not have a known cause or aetiology. KD is a self-limited illness that is not associated with the production of autoantibodies or the deposition of immune complexes, and it rarely recurs. The disease is believed to result from an aberrant inflammatory response to an infectious trigger in a genetically predisposed individual. Classic (typical) Kawasaki disease is diagnosed based on the presence of a fever lasting five or more days, accompanied by four out of five findings: bilateral conjunctival injection, oral changes such as cracked and erythematous lips and strawberry tongue, cervical lymphadenopathy, extremity changes such as erythema or palm and sole desquamation, and polymorphous rash. Incomplete (atypical) Kawasaki disease occurs in persons with fever lasting five or more days and with two or three of these findings. The standard treatment of acute KD is intravenous immunoglobulin (IVIG) infusion and aspirin. However, 10-20% of patients show resistance to IVIG therapy and present higher risk of coronary vasculitis. If there is no response to treatment, patients are given a second dose of IVIG with or without corticosteroids or other adjunctive treatment.",循環器疾患; 血液疾患; 皮膚および結合組織疾患,,,,,,"アスピリン [DR:D00109]
 シクロスポリン [DR:D00184]
 インフリキシマブ [DR:D02598]
 プレドニゾロン [DR:D00472]
 プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
 pH4処理酸性人免疫グロブリン [DR:D08779]
 ポリエチレングリコール処理人免疫グロブリン [DR:D08783]
 乾燥スルホ化人免疫グロブリン [DR:D08786]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:D08788]",,"ICD-11: 4A44.5
 ICD-10: M30.3
 MeSH: D009080","PMID:27342882
 著者        Hara T, Nakashima Y, Sakai Y, Nishio H, Motomura Y, Yamasaki S
 タイトル      Kawasaki disease: a matter of innate immunity.
 雑誌        Clin Exp Immunol 186:134-143 (2016)
 DOI:10.1111/cei.12832
 PMID:27506874
 著者        Galeotti C, Kaveri SV, Cimaz R, Kone-Paut I, Bayry J
 タイトル      Predisposing factors, pathogenesis and therapeutic intervention of Kawasaki disease.
 雑誌        Drug Discov Today 21:1850-1857 (2016)
 DOI:10.1016/j.drudis.2016.08.004
 PMID:25822554 (description, drug)
 著者        Saguil A, Fargo M, Grogan S
 タイトル      Diagnosis and management of kawasaki disease.
 雑誌        Am Fam Physician 91:365-71 (2015)
 PMID:24701096 (drug)
 著者        Rodriguez-Gonzalez M, Matamala-Morillo MA, Segado-Arenas A
 タイトル      Infliximab as rescue therapy in refractory Kawasaki disease.
 雑誌        Ann Pediatr Cardiol 7:74-5 (2014)
 DOI:10.4103/0974-2069.126578","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01718"">H01718</a>",川崎病,"Kawasaki disease (KD) is an acute systemic vasculitis of childhood that does not have a known cause or aetiology. KD is a self-limited illness that is not associated with the production of autoantibodies or the deposition of immune complexes, and it rarely recurs. The disease is believed to result from an aberrant inflammatory response to an infectious trigger in a genetically predisposed individual. Classic (typical) Kawasaki disease is diagnosed based on the presence of a fever lasting five or more days, accompanied by four out of five findings: bilateral conjunctival injection, oral changes such as cracked and erythematous lips and strawberry tongue, cervical lymphadenopathy, extremity changes such as erythema or palm and sole desquamation, and polymorphous rash. Incomplete (atypical) Kawasaki disease occurs in persons with fever lasting five or more days and with two or three of these findings. The standard treatment of acute KD is intravenous immunoglobulin (IVIG) infusion and aspirin. However, 10-20% of patients show resistance to IVIG therapy and present higher risk of coronary vasculitis. If there is no response to treatment, patients are given a second dose of IVIG with or without corticosteroids or other adjunctive treatment.",,,,,,"アスピリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00109"">D00109</a>]
 シクロスポリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00184"">D00184</a>]
 インフリキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02598"">D02598</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 プレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01239"">D01239</a>]
 pH4処理酸性人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08779"">D08779</a>]
 ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08783"">D08783</a>]
 乾燥スルホ化人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08786"">D08786</a>]
 乾燥ポリエチレングリコール処理人免疫グロブリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08788"">D08788</a>]",,"ICD-11: 4A44.5
 ICD-10: M30.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009080"">D009080</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27342882"">27342882</a>
 著者        Hara T, Nakashima Y, Sakai Y, Nishio H, Motomura Y, Yamasaki S
 タイトル      Kawasaki disease: a matter of innate immunity.
 雑誌        Clin Exp Immunol 186:134-143 (2016)
 DOI:<a href=""https://doi.org/10.1111/cei.12832"">10.1111/cei.12832</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27506874"">27506874</a>
 著者        Galeotti C, Kaveri SV, Cimaz R, Kone-Paut I, Bayry J
 タイトル      Predisposing factors, pathogenesis and therapeutic intervention of Kawasaki disease.
 雑誌        Drug Discov Today 21:1850-1857 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.drudis.2016.08.004"">10.1016/j.drudis.2016.08.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25822554"">25822554</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Saguil A, Fargo M, Grogan S
 タイトル      Diagnosis and management of kawasaki disease.
 雑誌        Am Fam Physician 91:365-71 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24701096"">24701096</a> (drug)
 著者        Rodriguez-Gonzalez M, Matamala-Morillo MA, Segado-Arenas A
 タイトル      Infliximab as rescue therapy in refractory Kawasaki disease.
 雑誌        Ann Pediatr Cardiol 7:74-5 (2014)
 DOI:<a href=""https://doi.org/10.4103/0974-2069.126578"">10.4103/0974-2069.126578</a>"
H01719,視神経症,,,"Optic neuropathy is damage to the optic nerve that causes vision loss frequently. The optic nerve is susceptible to a number of pathologic processes. Causes of the disease include demyelinating, inflammatory, toxic, nutritional, compressive, infiltrative, hereditary, traumatic, and neoplastic. The classic clinical signs of optic neuropathy are visual field defect, dyschromatopsia, and abnormal papillary response. A rapid onset is typical of demyelinating, inflammatory, ischemic, and traumatic causes.",神経系疾患,,,,"Ethambutol
 Methanol [CPD:C00132]
 Linezolid [CPD:C08146]
 Amiodarone",,,"See also H00068 Leber optic atrophy, H01490 Multiple sclerosis, H01491 Neuromyelitis optica, and H01717 Optic neuritis.","ICD-11: 9C40
 ICD-10: H46
 MeSH: D009901 D018917","PMID:19668477
 著者        Behbehani R
 タイトル      Clinical approach to optic neuropathies.
 雑誌        Clin Ophthalmol 1:233-46 (2007)
 PMID:25099099
 著者        Van Stavern GP
 タイトル      Metabolic, hereditary, traumatic, and neoplastic optic neuropathies.
 雑誌        Continuum (Minneap Minn) 20:877-906 (2014)
 DOI:10.1212/01.CON.0000453313.37143.9b","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01719"">H01719</a>",視神経症,"Optic neuropathy is damage to the optic nerve that causes vision loss frequently. The optic nerve is susceptible to a number of pathologic processes. Causes of the disease include demyelinating, inflammatory, toxic, nutritional, compressive, infiltrative, hereditary, traumatic, and neoplastic. The classic clinical signs of optic neuropathy are visual field defect, dyschromatopsia, and abnormal papillary response. A rapid onset is typical of demyelinating, inflammatory, ischemic, and traumatic causes.",,,,"Ethambutol
 Methanol [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00132"">C00132</a>]
 Linezolid [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C08146"">C08146</a>]
 Amiodarone",,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00068"">H00068</a> Leber optic atrophy, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01490"">H01490</a> Multiple sclerosis, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01491"">H01491</a> Neuromyelitis optica, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01717"">H01717</a> Optic neuritis.","ICD-11: 9C40
 ICD-10: H46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009901"">D009901</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018917"">D018917</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19668477"">19668477</a>
 著者        Behbehani R
 タイトル      Clinical approach to optic neuropathies.
 雑誌        Clin Ophthalmol 1:233-46 (2007)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25099099"">25099099</a>
 著者        Van Stavern GP
 タイトル      Metabolic, hereditary, traumatic, and neoplastic optic neuropathies.
 雑誌        Continuum (Minneap Minn) 20:877-906 (2014)
 DOI:<a href=""https://doi.org/10.1212/01.CON.0000453313.37143.9b"">10.1212/01.CON.0000453313.37143.9b</a>"
H01720,東南アジア楕円赤血球症,,,"Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes (ovalocytes).",血液疾患,,SLC4A1 [HSA:6521] [KO:K06573],,,,,See also H00361 Malaria.,"ICD-11: 3A10.Y
 ICD-10: D58.1
 OMIM: 166900","PMID:27756835
 著者        Andolfo I, Russo R, Gambale A, Iolascon A
 タイトル      New insights on hereditary erythrocyte membrane defects.
 雑誌        Haematologica 101:1284-1294 (2016)
 DOI:10.3324/haematol.2016.142463
 PMID:12081559
 著者        Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ
 タイトル      Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
 雑誌        Kidney Int 62:10-9 (2002)
 DOI:10.1046/j.1523-1755.2002.00417.x
 PMID:26047685
 著者        Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, Thompson MK, Yusoff NM, Wilder JA
 タイトル      The evolutionary origins of Southeast Asian Ovalocytosis.
 雑誌        Infect Genet Evol 34:153-9 (2015)
 DOI:10.1016/j.meegid.2015.06.002
 PMID:1722314
 著者        Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC
 タイトル      Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
 雑誌        Proc Natl Acad Sci U S A 88:11022-6 (1991)
 DOI:10.1073/pnas.88.24.11022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01720"">H01720</a>",東南アジア楕円赤血球症,"Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes (ovalocytes).",,"SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00361"">H00361</a> Malaria.","ICD-11: 3A10.Y
 ICD-10: D58.1
 OMIM: <a href=""https://www.omim.org/entry/166900"">166900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27756835"">27756835</a>
 著者        Andolfo I, Russo R, Gambale A, Iolascon A
 タイトル      New insights on hereditary erythrocyte membrane defects.
 雑誌        Haematologica 101:1284-1294 (2016)
 DOI:<a href=""https://doi.org/10.3324/haematol.2016.142463"">10.3324/haematol.2016.142463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12081559"">12081559</a>
 著者        Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ
 タイトル      Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
 雑誌        Kidney Int 62:10-9 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.2002.00417.x"">10.1046/j.1523-1755.2002.00417.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26047685"">26047685</a>
 著者        Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, Thompson MK, Yusoff NM, Wilder JA
 タイトル      The evolutionary origins of Southeast Asian Ovalocytosis.
 雑誌        Infect Genet Evol 34:153-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.meegid.2015.06.002"">10.1016/j.meegid.2015.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1722314"">1722314</a>
 著者        Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC
 タイトル      Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
 雑誌        Proc Natl Acad Sci U S A 88:11022-6 (1991)
 DOI:<a href=""https://doi.org/10.1073/pnas.88.24.11022"">10.1073/pnas.88.24.11022</a>"
H01721,"抗糸球体基底膜腎炎;
 グッドパスチャー症候群",,,"Goodpasture syndrome (GS), or anti-glomerular basement membrane (anti-GBM) disease, is a rare and organ-specific autoimmune disease defined by anti-GBM antibody-mediated damage (mainly immunoglobulin G-1) resulting in progressive crescentic glomerulonephritis and, frequently, diffuse pulmonary alveolar hemorrhage. Clinically, GS is characterized by pulmonary hemorrhage and renal failure, although the clinical spectrum may range from only mild symptoms to a relentless and finally lethal outcome. This disease accounts for 10-20% of the patients with acute renal failure following a rapidly progressive glomerulonephritis. The disease is caused by an autoimmune response against the non-collagenase domain of the alpha 3 chain of type IV collagen [alpha3(IV)NC1], found in the glomerular and alveolar basement membranes. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Early and intensive treatment with plasmapheresis and immunosuppression with systemic corticosteroids pending results of diagnostic testing, and later cyclophosphamide, is often beneficial, with 90% of patients surviving the acute presentation of GS.",免疫系疾患,,,,,,,"Autoantigen:
 COL4A3 [HSA:1285] [KO:K06237]
 See also H01688 Rapidly progressive glomerulonephritis (RPGN).","ICD-11: MF85
 ICD-10: M31.0 N08.5
 MeSH: D019867","PMID:18502098 (description, autoantigen)
 著者        Ooi JD, Holdsworth SR, Kitching AR
 タイトル      Advances in the pathogenesis of Goodpasture's disease: from epitopes to autoantibodies to effector T cells.
 雑誌        J Autoimmun 31:295-300 (2008)
 DOI:10.1016/j.jaut.2008.04.005
 PMID:21207195
 著者        Chan AL, Louie S, Leslie KO, Juarez MM, Albertson TE
 タイトル      Cutting edge issues in Goodpasture's disease.
 雑誌        Clin Rev Allergy Immunol 41:151-62 (2011)
 DOI:10.1007/s12016-010-8222-2
 PMID:23806563
 著者        Dammacco F, Battaglia S, Gesualdo L, Racanelli V
 タイトル      Goodpasture's disease: a report of ten cases and a review of the literature.
 雑誌        Autoimmun Rev 12:1101-8 (2013)
 DOI:10.1016/j.autrev.2013.06.014
 PMID:25462583 (description, drug)
 著者        Greco A, Rizzo MI, De Virgilio A, Gallo A, Fusconi M, Pagliuca G, Martellucci S, Turchetta R, Longo L, De Vincentiis M
 タイトル      Goodpasture's syndrome: a clinical update.
 雑誌        Autoimmun Rev 14:246-53 (2015)
 DOI:10.1016/j.autrev.2014.11.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01721"">H01721</a>","抗糸球体基底膜腎炎;
 グッドパスチャー症候群","Goodpasture syndrome (GS), or anti-glomerular basement membrane (anti-GBM) disease, is a rare and organ-specific autoimmune disease defined by anti-GBM antibody-mediated damage (mainly immunoglobulin G-1) resulting in progressive crescentic glomerulonephritis and, frequently, diffuse pulmonary alveolar hemorrhage. Clinically, GS is characterized by pulmonary hemorrhage and renal failure, although the clinical spectrum may range from only mild symptoms to a relentless and finally lethal outcome. This disease accounts for 10-20% of the patients with acute renal failure following a rapidly progressive glomerulonephritis. The disease is caused by an autoimmune response against the non-collagenase domain of the alpha 3 chain of type IV collagen [alpha3(IV)NC1], found in the glomerular and alveolar basement membranes. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Early and intensive treatment with plasmapheresis and immunosuppression with systemic corticosteroids pending results of diagnostic testing, and later cyclophosphamide, is often beneficial, with 90% of patients surviving the acute presentation of GS.",,,,,,,"Autoantigen:
 COL4A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1285"">1285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06237"">K06237</a>]
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01688"">H01688</a> Rapidly progressive glomerulonephritis (RPGN).","ICD-11: MF85
 ICD-10: M31.0 N08.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019867"">D019867</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18502098"">18502098</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/autoantigen)"">autoantigen)</a>
 著者        Ooi JD, Holdsworth SR, Kitching AR
 タイトル      Advances in the pathogenesis of Goodpasture's disease: from epitopes to autoantibodies to effector T cells.
 雑誌        J Autoimmun 31:295-300 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2008.04.005"">10.1016/j.jaut.2008.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21207195"">21207195</a>
 著者        Chan AL, Louie S, Leslie KO, Juarez MM, Albertson TE
 タイトル      Cutting edge issues in Goodpasture's disease.
 雑誌        Clin Rev Allergy Immunol 41:151-62 (2011)
 DOI:<a href=""https://doi.org/10.1007/s12016-010-8222-2"">10.1007/s12016-010-8222-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23806563"">23806563</a>
 著者        Dammacco F, Battaglia S, Gesualdo L, Racanelli V
 タイトル      Goodpasture's disease: a report of ten cases and a review of the literature.
 雑誌        Autoimmun Rev 12:1101-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2013.06.014"">10.1016/j.autrev.2013.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25462583"">25462583</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Greco A, Rizzo MI, De Virgilio A, Gallo A, Fusconi M, Pagliuca G, Martellucci S, Turchetta R, Longo L, De Vincentiis M
 タイトル      Goodpasture's syndrome: a clinical update.
 雑誌        Autoimmun Rev 14:246-53 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2014.11.006"">10.1016/j.autrev.2014.11.006</a>"
H01722,ギャロウェイ・モワト症候群,,,"Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies on small series describing the clinical and histopathological features of GAMOS have revealed the clinical heterogeneity of this condition. The consistent morphological hallmark is microcephaly, which is often present at birth (primary microcephaly) but might also develop postnatally (secondary microcephaly). Major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria. These structural brain abnormalities are associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and rapid deterioration of renal function. Death usually occurs within few years from the onset. Very recently, several genes have been identified as the cause of GAMOS.",先天奇形,,"(GAMOS1) WDR73 [HSA:84942] [KO:K24754]
 (GAMOS2) LAGE3 [HSA:8270] [KO:K15902]
 (GAMOS3) OSGEP [HSA:55644] [KO:K01409]
 (GAMOS4) TP53RK [HSA:112858] [KO:K08851]
 (GAMOS5) TPRKB [HSA:51002] [KO:K15901]
 (GAMOS6) WDR4 [HSA:10785] [KO:K15443]
 (GAMOS7) NUP107 [HSA:57122] [KO:K14301]
 (GAMOS8) NUP133 [HSA:55746] [KO:K14300]
 (GAMOS9) GON7 [HSA:84520] [KO:K15903]
 (GAMOS10) YRDC [HSA:79693] [KO:K07566]",,,,,,"ICD-11: GB41
 ICD-10: Q04.3
 MeSH: C537548
 OMIM: 251300 301006 617729 617730 617731 618347 618348 618349 619603 619609","PMID:20083416
 著者        Pezzella M, Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, Striano P, Minetti C
 タイトル      Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
 雑誌        Seizure 19:132-5 (2010)
 DOI:10.1016/j.seizure.2009.12.002
 PMID:18276083
 著者        Sartelet H, Pietrement C, Noel LH, Sabouraud P, Birembaut P, Oligny LL, Roussel B, Doco-Fenzy M
 タイトル      Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
 雑誌        Pathol Res Pract 204:401-6 (2008)
 DOI:10.1016/j.prp.2007.12.007
 PMID:25466283 (GAMOS1)
 著者        Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferre M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C
 タイトル      Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
 雑誌        Am J Hum Genet 95:637-48 (2014)
 DOI:10.1016/j.ajhg.2014.10.011
 PMID:28805828 (GAMOS2_3_4_5)
 著者        Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
 タイトル      Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
 雑誌        Nat Genet 49:1529-1538 (2017)
 DOI:10.1038/ng.3933
 PMID:30079490 (GAMOS6)
 著者        Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F
 タイトル      Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
 雑誌        Am J Med Genet A 176:2460-2465 (2018)
 DOI:10.1002/ajmg.a.40489
 PMID:28280135 (GAMOS7)
 著者        Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG
 タイトル      Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
 雑誌        J Med Genet 54:399-403 (2017)
 DOI:10.1136/jmedgenet-2016-104237
 PMID:30427554 (GAMOS8)
 著者        Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N
 タイトル      Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
 雑誌        Ann Neurol 84:814-828 (2018)
 DOI:10.1002/ana.25370
 PMID:31481669 (GAMOS9_10)
 著者        Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G
 タイトル      Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
 雑誌        Nat Commun 10:3967 (2019)
 DOI:10.1038/s41467-019-11951-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01722"">H01722</a>",ギャロウェイ・モワト症候群,"Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies on small series describing the clinical and histopathological features of GAMOS have revealed the clinical heterogeneity of this condition. The consistent morphological hallmark is microcephaly, which is often present at birth (primary microcephaly) but might also develop postnatally (secondary microcephaly). Major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria. These structural brain abnormalities are associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and rapid deterioration of renal function. Death usually occurs within few years from the onset. Very recently, several genes have been identified as the cause of GAMOS.",,"(GAMOS1) WDR73 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84942"">84942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24754"">K24754</a>]
 (GAMOS2) LAGE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8270"">8270</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15902"">K15902</a>]
 (GAMOS3) OSGEP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55644"">55644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01409"">K01409</a>]
 (GAMOS4) TP53RK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112858"">112858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08851"">K08851</a>]
 (GAMOS5) TPRKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51002"">51002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15901"">K15901</a>]
 (GAMOS6) WDR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10785"">10785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15443"">K15443</a>]
 (GAMOS7) NUP107 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57122"">57122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14301"">K14301</a>]
 (GAMOS8) NUP133 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55746"">55746</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14300"">K14300</a>]
 (GAMOS9) GON7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84520"">84520</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15903"">K15903</a>]
 (GAMOS10) YRDC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79693"">79693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07566"">K07566</a>]",,,,,,"ICD-11: GB41
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537548"">C537548</a>
 OMIM: <a href=""https://www.omim.org/entry/251300"">251300</a> <a href=""https://www.omim.org/entry/301006"">301006</a> <a href=""https://www.omim.org/entry/617729"">617729</a> <a href=""https://www.omim.org/entry/617730"">617730</a> <a href=""https://www.omim.org/entry/617731"">617731</a> <a href=""https://www.omim.org/entry/618347"">618347</a> <a href=""https://www.omim.org/entry/618348"">618348</a> <a href=""https://www.omim.org/entry/618349"">618349</a> <a href=""https://www.omim.org/entry/619603"">619603</a> <a href=""https://www.omim.org/entry/619609"">619609</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20083416"">20083416</a>
 著者        Pezzella M, Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, Striano P, Minetti C
 タイトル      Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
 雑誌        Seizure 19:132-5 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.seizure.2009.12.002"">10.1016/j.seizure.2009.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18276083"">18276083</a>
 著者        Sartelet H, Pietrement C, Noel LH, Sabouraud P, Birembaut P, Oligny LL, Roussel B, Doco-Fenzy M
 タイトル      Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
 雑誌        Pathol Res Pract 204:401-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.prp.2007.12.007"">10.1016/j.prp.2007.12.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25466283"">25466283</a> (GAMOS1)
 著者        Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferre M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C
 タイトル      Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
 雑誌        Am J Hum Genet 95:637-48 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.011"">10.1016/j.ajhg.2014.10.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28805828"">28805828</a> (GAMOS2_3_4_5)
 著者        Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
 タイトル      Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
 雑誌        Nat Genet 49:1529-1538 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3933"">10.1038/ng.3933</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30079490"">30079490</a> (GAMOS6)
 著者        Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F
 タイトル      Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
 雑誌        Am J Med Genet A 176:2460-2465 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.40489"">10.1002/ajmg.a.40489</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28280135"">28280135</a> (GAMOS7)
 著者        Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG
 タイトル      Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
 雑誌        J Med Genet 54:399-403 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104237"">10.1136/jmedgenet-2016-104237</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30427554"">30427554</a> (GAMOS8)
 著者        Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N
 タイトル      Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
 雑誌        Ann Neurol 84:814-828 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25370"">10.1002/ana.25370</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31481669"">31481669</a> (GAMOS9_10)
 著者        Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G
 タイトル      Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
 雑誌        Nat Commun 10:3967 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-11951-x"">10.1038/s41467-019-11951-x</a>"
H01723,深部静脈血栓症,,,"Deep vein thrombosis (DVT) is the formation of blood clots (thrombi) in the deep veins. It can lead to complications such as postphlebitic syndrome, pulmonary embolism and death. DVT has genetic and acquired risk factors. The genetic risk factors can be subdivided into those that are strong, moderate and weak. Strong risk factors are deficiencies of antithrombin, protein C and protein S. Moderately strong are factor V Leiden, prothrombin 20210A, non-O blood group and fibrinogen 10034T. There are many weak genetic risk factors, including fibrinogen, factor XIII and factor XI variants. Acquired risk factors include surgery, oral contraceptives, trauma, obesity, cancer, and so on. In some patients, venous thrombosis occurs in the presence of such risk factors for DVT. These patients are classified as having secondary DVT. In the other patients, no predisposing factors are found, and thus, are considered as having an idiopathic DVT.",血液疾患,,"Antithrombin (deficiency) [HSA:462] [KO:K03911]
 Protein C (deficiency) [HSA:5624] [KO:K01344]
 Protein S (deficiency) [HSA:5627] [KO:K03908]",,,,,,"ICD-11: BD71
 ICD-10: I80.2
 MeSH: D020246","PMID:8568483
 著者        Bastounis EA, Karayiannakis AJ, Makri GG, Alexiou D, Papalambros EL
 タイトル      The incidence of occult cancer in patients with deep venous thrombosis: a prospective study.
 雑誌        J Intern Med 239:153-6 (1996)
 DOI:10.1046/j.1365-2796.1996.426000.x
 PMID:17060659
 著者        Scarvelis D, Wells PS
 タイトル      Diagnosis and treatment of deep-vein thrombosis.
 雑誌        CMAJ 175:1087-92 (2006)
 DOI:10.1503/cmaj.060366
 PMID:19630821
 著者        Rosendaal FR, Reitsma PH
 タイトル      Genetics of venous thrombosis.
 雑誌        J Thromb Haemost 7 Suppl 1:301-4 (2009)
 DOI:10.1111/j.1538-7836.2009.03394.x
 PMID:19784750 (drug)
 著者        Spiezia L, Simioni P
 タイトル      Upper extremity deep vein thrombosis.
 雑誌        Intern Emerg Med 5:103-9 (2010)
 DOI:10.1007/s11739-009-0320-x
 PMID:22287864
 著者        Kesieme E, Kesieme C, Jebbin N, Irekpita E, Dongo A
 タイトル      Deep vein thrombosis: a clinical review.
 雑誌        J Blood Med 2:59-69 (2011)
 DOI:10.2147/JBM.S19009
 PMID:27766050
 著者        Rosendaal FR
 タイトル      Causes of venous thrombosis.
 雑誌        Thromb J 14:24 (2016)
 DOI:10.1186/s12959-016-0108-y
 PMID:27572888 (drug)
 著者        Cote LP, Greenberg S, Caprini JA, Tafur A, Choi C, Munoz FJ, Skride A, Valero B, Porras JA, Ciammaichella M, Hernandez-Blasco LM, Monreal M
 タイトル      Comparisons Between Upper and Lower Extremity Deep Vein Thrombosis: A Review of the RIETE Registry.
 雑誌        Clin Appl Thromb Hemost 23:748-754 (2017)
 DOI:10.1177/1076029616663847","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01723"">H01723</a>",深部静脈血栓症,"Deep vein thrombosis (DVT) is the formation of blood clots (thrombi) in the deep veins. It can lead to complications such as postphlebitic syndrome, pulmonary embolism and death. DVT has genetic and acquired risk factors. The genetic risk factors can be subdivided into those that are strong, moderate and weak. Strong risk factors are deficiencies of antithrombin, protein C and protein S. Moderately strong are factor V Leiden, prothrombin 20210A, non-O blood group and fibrinogen 10034T. There are many weak genetic risk factors, including fibrinogen, factor XIII and factor XI variants. Acquired risk factors include surgery, oral contraceptives, trauma, obesity, cancer, and so on. In some patients, venous thrombosis occurs in the presence of such risk factors for DVT. These patients are classified as having secondary DVT. In the other patients, no predisposing factors are found, and thus, are considered as having an idiopathic DVT.",,"Antithrombin (deficiency) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:462"">462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03911"">K03911</a>]
 Protein C (deficiency) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5624"">5624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01344"">K01344</a>]
 Protein S (deficiency) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5627"">5627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03908"">K03908</a>]",,,,,,"ICD-11: BD71
 ICD-10: I80.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020246"">D020246</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8568483"">8568483</a>
 著者        Bastounis EA, Karayiannakis AJ, Makri GG, Alexiou D, Papalambros EL
 タイトル      The incidence of occult cancer in patients with deep venous thrombosis: a prospective study.
 雑誌        J Intern Med 239:153-6 (1996)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2796.1996.426000.x"">10.1046/j.1365-2796.1996.426000.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17060659"">17060659</a>
 著者        Scarvelis D, Wells PS
 タイトル      Diagnosis and treatment of deep-vein thrombosis.
 雑誌        CMAJ 175:1087-92 (2006)
 DOI:<a href=""https://doi.org/10.1503/cmaj.060366"">10.1503/cmaj.060366</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19630821"">19630821</a>
 著者        Rosendaal FR, Reitsma PH
 タイトル      Genetics of venous thrombosis.
 雑誌        J Thromb Haemost 7 Suppl 1:301-4 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1538-7836.2009.03394.x"">10.1111/j.1538-7836.2009.03394.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19784750"">19784750</a> (drug)
 著者        Spiezia L, Simioni P
 タイトル      Upper extremity deep vein thrombosis.
 雑誌        Intern Emerg Med 5:103-9 (2010)
 DOI:<a href=""https://doi.org/10.1007/s11739-009-0320-x"">10.1007/s11739-009-0320-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22287864"">22287864</a>
 著者        Kesieme E, Kesieme C, Jebbin N, Irekpita E, Dongo A
 タイトル      Deep vein thrombosis: a clinical review.
 雑誌        J Blood Med 2:59-69 (2011)
 DOI:<a href=""https://doi.org/10.2147/JBM.S19009"">10.2147/JBM.S19009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27766050"">27766050</a>
 著者        Rosendaal FR
 タイトル      Causes of venous thrombosis.
 雑誌        Thromb J 14:24 (2016)
 DOI:<a href=""https://doi.org/10.1186/s12959-016-0108-y"">10.1186/s12959-016-0108-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27572888"">27572888</a> (drug)
 著者        Cote LP, Greenberg S, Caprini JA, Tafur A, Choi C, Munoz FJ, Skride A, Valero B, Porras JA, Ciammaichella M, Hernandez-Blasco LM, Monreal M
 タイトル      Comparisons Between Upper and Lower Extremity Deep Vein Thrombosis: A Review of the RIETE Registry.
 雑誌        Clin Appl Thromb Hemost 23:748-754 (2017)
 DOI:<a href=""https://doi.org/10.1177/1076029616663847"">10.1177/1076029616663847</a>"
H01724,"HTLV-1 関連脊髄症;
 熱帯性痙性不全対麻痺症",,,"Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric disturbances. HTLV-1 is the etiologic agent of HAM/TSP. Although the majority of HTLV-1-infected individuals remain asymptomatic during their lifetime, approximately one percent of this population develops a myelopathy consisting of a chronic inflammation of the white and gray matter of the spinal cord. Early in the disease process the leptomeninges, blood vessels and parenchyma are infiltrated with CD4+, CD8+, B lymphocytes and foamy macrophages, whereas later in the disease CD8+ lymphocytes predominate with subsequent progression to a relatively acellular, atrophic pattern with axonal and myelin degeneration.",免疫系疾患; 神経系疾患,,,human T-lymphotropic virus type 1 [GN:T40003],,,インターフェロンアルファ (NAMALWA) [DR:D03305],,"ICD-11: 8A45.00
 ICD-10: G04.1
 MeSH: D015493","PMID:23217623 (pathogen)
 著者        Cook LB, Elemans M, Rowan AG, Asquith B
 タイトル      HTLV-1: persistence and pathogenesis.
 雑誌        Virology 435:131-40 (2013)
 DOI:10.1016/j.virol.2012.09.028
 PMID:22300227 (drug)
 著者        Pillat MM, Bauer ME, de Oliveira AC, Ulrich H, Casseb J
 タイトル      HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP): still an obscure disease.
 雑誌        Cent Nerv Syst Agents Med Chem 11:239-45 (2011)
 DOI:10.2174/1871524911106040239
 PMID:21994794
 著者        Araya N, Sato T, Yagishita N, Ando H, Utsunomiya A, Jacobson S, Yamano Y
 タイトル      Human T-lymphotropic virus type 1 (HTLV-1) and regulatory T cells in HTLV-1-associated neuroinflammatory disease.
 雑誌        Viruses 3:1532-48 (2011)
 DOI:10.3390/v3091532
 PMID:19618340
 著者        Nakamura T
 タイトル      HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP): the role of HTLV-I-infected Th1 cells in the pathogenesis, and therapeutic strategy.
 雑誌        Folia Neuropathol 47:182-94 (2009)
 PMID:18691139 (pathogen)
 著者        Goncalves DU, Proietti FA, Barbosa-Stancioli EF, Martins ML, Ribas JG, Martins-Filho OA, Teixeira-Carvalho A, Peruhype-Magalhaes V, Carneiro-Proietti AB
 タイトル      HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) inflammatory network.
 雑誌        Inflamm Allergy Drug Targets 7:98-107 (2008)
 DOI:10.2174/187152808785107642","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01724"">H01724</a>","HTLV-1 関連脊髄症;
 熱帯性痙性不全対麻痺症","Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric disturbances. HTLV-1 is the etiologic agent of HAM/TSP. Although the majority of HTLV-1-infected individuals remain asymptomatic during their lifetime, approximately one percent of this population develops a myelopathy consisting of a chronic inflammation of the white and gray matter of the spinal cord. Early in the disease process the leptomeninges, blood vessels and parenchyma are infiltrated with CD4+, CD8+, B lymphocytes and foamy macrophages, whereas later in the disease CD8+ lymphocytes predominate with subsequent progression to a relatively acellular, atrophic pattern with axonal and myelin degeneration.",,,"human T-lymphotropic virus type 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40003"">T40003</a>]",,,"インターフェロンアルファ (NAMALWA) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03305"">D03305</a>]",,"ICD-11: 8A45.00
 ICD-10: G04.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015493"">D015493</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23217623"">23217623</a> (pathogen)
 著者        Cook LB, Elemans M, Rowan AG, Asquith B
 タイトル      HTLV-1: persistence and pathogenesis.
 雑誌        Virology 435:131-40 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.virol.2012.09.028"">10.1016/j.virol.2012.09.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22300227"">22300227</a> (drug)
 著者        Pillat MM, Bauer ME, de Oliveira AC, Ulrich H, Casseb J
 タイトル      HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP): still an obscure disease.
 雑誌        Cent Nerv Syst Agents Med Chem 11:239-45 (2011)
 DOI:<a href=""https://doi.org/10.2174/1871524911106040239"">10.2174/1871524911106040239</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21994794"">21994794</a>
 著者        Araya N, Sato T, Yagishita N, Ando H, Utsunomiya A, Jacobson S, Yamano Y
 タイトル      Human T-lymphotropic virus type 1 (HTLV-1) and regulatory T cells in HTLV-1-associated neuroinflammatory disease.
 雑誌        Viruses 3:1532-48 (2011)
 DOI:<a href=""https://doi.org/10.3390/v3091532"">10.3390/v3091532</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19618340"">19618340</a>
 著者        Nakamura T
 タイトル      HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP): the role of HTLV-I-infected Th1 cells in the pathogenesis, and therapeutic strategy.
 雑誌        Folia Neuropathol 47:182-94 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18691139"">18691139</a> (pathogen)
 著者        Goncalves DU, Proietti FA, Barbosa-Stancioli EF, Martins ML, Ribas JG, Martins-Filho OA, Teixeira-Carvalho A, Peruhype-Magalhaes V, Carneiro-Proietti AB
 タイトル      HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) inflammatory network.
 雑誌        Inflamm Allergy Drug Targets 7:98-107 (2008)
 DOI:<a href=""https://doi.org/10.2174/187152808785107642"">10.2174/187152808785107642</a>"
H01725,"原発性免疫不全症
 下位グループ    自然免疫の障害 [DS:H02525]
 獲得免疫の障害 [DS:H02526]
 他のよく定義された免疫不全症候群 [DS:H00107]",,,"Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.",免疫系疾患,,,,,,,,"ICD-11: 4A00 4A01
 ICD-10: D69 D70 D71 D76 D80 D81 D82 D84
 MeSH: D000361 D053306 D017074 D053632 D001260 D049932 D564694 D0001816 D006105 D056735 D016553 D014923 D004062","PMID:22165913
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:10.1186/1710-1492-7-S1-S11
 PMID:23942400
 著者        Madkaikar M, Mishra A, Ghosh K
 タイトル      Diagnostic approach to primary immunodeficiency disorders.
 雑誌        Indian Pediatr 50:579-86 (2013)
 DOI:10.1007/s13312-013-0171-4
 PMID:20075404
 著者        Turvey SE, Bonilla FA, Junker AK
 タイトル      Primary immunodeficiency diseases: a practical guide for clinicians.
 雑誌        Postgrad Med J 85:660-6 (2009)
 DOI:10.1136/pgmj.2009.080630
 PMID:26482257
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:10.1007/s10875-015-0201-1
 PMID:18093537
 著者        Fischer A.
 タイトル      Human primary immunodeficiency diseases.
 雑誌        Immunity 27:835-45 (2007)
 DOI:10.1016/j.immuni.2007.11.012
 PMID:12592303
 著者        Bonilla FA, Geha RS
 タイトル      12. Primary immunodeficiency diseases.
 雑誌        J Allergy Clin Immunol 111:S571-81 (2003)
 DOI:10.1067/mai.2003.86","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>","原発性免疫不全症
 下位グループ    自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]","Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.",,,,,,,,"ICD-11: 4A00 4A01
 ICD-10: D69 D70 D71 D76 D80 D81 D82 D84
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000361"">D000361</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053306"">D053306</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017074"">D017074</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053632"">D053632</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001260"">D001260</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049932"">D049932</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D564694"">D564694</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D0001816"">D0001816</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006105"">D006105</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056735"">D056735</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016553"">D016553</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014923"">D014923</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004062"">D004062</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22165913"">22165913</a>
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:<a href=""https://doi.org/10.1186/1710-1492-7-S1-S11"">10.1186/1710-1492-7-S1-S11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23942400"">23942400</a>
 著者        Madkaikar M, Mishra A, Ghosh K
 タイトル      Diagnostic approach to primary immunodeficiency disorders.
 雑誌        Indian Pediatr 50:579-86 (2013)
 DOI:<a href=""https://doi.org/10.1007/s13312-013-0171-4"">10.1007/s13312-013-0171-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20075404"">20075404</a>
 著者        Turvey SE, Bonilla FA, Junker AK
 タイトル      Primary immunodeficiency diseases: a practical guide for clinicians.
 雑誌        Postgrad Med J 85:660-6 (2009)
 DOI:<a href=""https://doi.org/10.1136/pgmj.2009.080630"">10.1136/pgmj.2009.080630</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26482257"">26482257</a>
 著者        Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
 タイトル      Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 雑誌        J Clin Immunol 35:696-726 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10875-015-0201-1"">10.1007/s10875-015-0201-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18093537"">18093537</a>
 著者        Fischer A.
 タイトル      Human primary immunodeficiency diseases.
 雑誌        Immunity 27:835-45 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.immuni.2007.11.012"">10.1016/j.immuni.2007.11.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12592303"">12592303</a>
 著者        Bonilla FA, Geha RS
 タイトル      12. Primary immunodeficiency diseases.
 雑誌        J Allergy Clin Immunol 111:S571-81 (2003)
 DOI:<a href=""https://doi.org/10.1067/mai.2003.86"">10.1067/mai.2003.86</a>"
H01726,"膜性増殖性糸球体腎炎
 下位グループ    Dense deposit disease (DDD)
 C3 腎症 (C3G) [DS:H02579]
 免疫グロブリン介在膜性増殖性糸球体腎炎",,,"Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours. Classification of MPGN has been updated in the 2010s and is now categorized according to the immunofluorescence microscopy findings. MPGN is now recognized as follows: Immunocomplexes-associated MPGN with complement over activation; MPGN with intramembranous dense deposits; and C3 glomerulopathy.",免疫系疾患; 泌尿器系疾患,,"CFH [HSA:3075] [KO:K04004]
 CFHR5 [HSA:81494] [KO:K23817]
 DGKE [HSA:8526] [KO:K00901]",,,,,,"ICD-11: MF8Y
 ICD-10: N03
 MeSH: D015432
 OMIM: 609814 614809 615008","PMID:27356907
 著者        Lionaki S, Gakiopoulou H, Boletis JN
 タイトル      Understanding the complement-mediated glomerular diseases: focus on membranoproliferative glomerulonephritis and C3 glomerulopathies.
 雑誌        APMIS 124:725-35 (2016)
 DOI:10.1111/apm.12566
 PMID:27458560
 著者        Salvadori M, Rosso G
 タイトル      Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN.
 雑誌        World J Nephrol 5:308-20 (2016)
 DOI:10.5527/wjn.v5.i4.308
 PMID:26921911
 著者        Floege J, Amann K
 タイトル      Primary glomerulonephritides.
 雑誌        Lancet 387:2036-48 (2016)
 DOI:10.1016/S0140-6736(16)00272-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01726"">H01726</a>","膜性増殖性糸球体腎炎
 下位グループ    Dense deposit disease (DDD)
 C3 腎症 (C3G) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02579"">H02579</a>]
 免疫グロブリン介在膜性増殖性糸球体腎炎","Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours. Classification of MPGN has been updated in the 2010s and is now categorized according to the immunofluorescence microscopy findings. MPGN is now recognized as follows: Immunocomplexes-associated MPGN with complement over activation; MPGN with intramembranous dense deposits; and C3 glomerulopathy.",,"CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 CFHR5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81494"">81494</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23817"">K23817</a>]
 DGKE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8526"">8526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00901"">K00901</a>]",,,,,,"ICD-11: MF8Y
 ICD-10: N03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015432"">D015432</a>
 OMIM: <a href=""https://www.omim.org/entry/609814"">609814</a> <a href=""https://www.omim.org/entry/614809"">614809</a> <a href=""https://www.omim.org/entry/615008"">615008</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27356907"">27356907</a>
 著者        Lionaki S, Gakiopoulou H, Boletis JN
 タイトル      Understanding the complement-mediated glomerular diseases: focus on membranoproliferative glomerulonephritis and C3 glomerulopathies.
 雑誌        APMIS 124:725-35 (2016)
 DOI:<a href=""https://doi.org/10.1111/apm.12566"">10.1111/apm.12566</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27458560"">27458560</a>
 著者        Salvadori M, Rosso G
 タイトル      Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:C3GN."">C3GN.</a>
 雑誌        World J Nephrol 5:308-20 (2016)
 DOI:<a href=""https://doi.org/10.5527/wjn.v5.i4.308"">10.5527/wjn.v5.i4.308</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26921911"">26921911</a>
 著者        Floege J, Amann K
 タイトル      Primary glomerulonephritides.
 雑誌        Lancet 387:2036-48 (2016)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(16)00272-5"">10.1016/S0140-6736(16)00272-5</a>"
H01727,原発性肺胞低換気症候群,,,"Primary alveolar hypoventilation syndrome (PAHS) is a rare disorder which shows hypoxemia and hypercapnia without apparent associated pulmonary, neuromuscular, and central nervous diseases. PAHS is characterized by exacerbation of hypoxemia during sleep. Disorders of both automatic and chemical control of ventilation are considered as causes of this syndrome. PAHS occurring during infancy is called congenital central alveolar hypoventilation syndrome (CCHS). Although the relationship between CCHS and adult onset PAHS is unclear, the familial occurrence of PAHS may suggest an underlying genetic mechanism. It has been represented that some adult onset PAHS may be a mild type of CCHS. Recently, noninvasive positive pressure ventilation (NIPPV) has become available for PAHS.",呼吸器疾患,,,,,,,See also H00916 Congenital central hypoventilation syndrome (CCHS).,"ICD-11: 7A42
 ICD-10: R06.8
 MeSH: D020182","PMID:11446680
 著者        Funada Y, Nishimura Y, Kamemura K, Nakajima T, Tsuchiya T, Nishiuma T, Kotani Y, Yamanaka Y, Ohnishi Y, Yokoyama M
 タイトル      Familial adult onset primary alveolar hypoventilation syndrome.
 雑誌        Intern Med 40:526-31 (2001)
 DOI:10.2169/internalmedicine.40.526
 PMID:16258218
 著者        Hara J, Fujimura M, Myou S, Oribe Y, Furusho S, Yamazaki M, Nakao S
 タイトル      Primary alveolar hypoventilation syndrome complicated with antiphospholipid syndrome.
 雑誌        Intern Med 44:987-9 (2005)
 DOI:10.2169/internalmedicine.44.987","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01727"">H01727</a>",原発性肺胞低換気症候群,"Primary alveolar hypoventilation syndrome (PAHS) is a rare disorder which shows hypoxemia and hypercapnia without apparent associated pulmonary, neuromuscular, and central nervous diseases. PAHS is characterized by exacerbation of hypoxemia during sleep. Disorders of both automatic and chemical control of ventilation are considered as causes of this syndrome. PAHS occurring during infancy is called congenital central alveolar hypoventilation syndrome (CCHS). Although the relationship between CCHS and adult onset PAHS is unclear, the familial occurrence of PAHS may suggest an underlying genetic mechanism. It has been represented that some adult onset PAHS may be a mild type of CCHS. Recently, noninvasive positive pressure ventilation (NIPPV) has become available for PAHS.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00916"">H00916</a> Congenital central hypoventilation syndrome (CCHS).","ICD-11: 7A42
 ICD-10: R06.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020182"">D020182</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11446680"">11446680</a>
 著者        Funada Y, Nishimura Y, Kamemura K, Nakajima T, Tsuchiya T, Nishiuma T, Kotani Y, Yamanaka Y, Ohnishi Y, Yokoyama M
 タイトル      Familial adult onset primary alveolar hypoventilation syndrome.
 雑誌        Intern Med 40:526-31 (2001)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.40.526"">10.2169/internalmedicine.40.526</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16258218"">16258218</a>
 著者        Hara J, Fujimura M, Myou S, Oribe Y, Furusho S, Yamazaki M, Nakao S
 タイトル      Primary alveolar hypoventilation syndrome complicated with antiphospholipid syndrome.
 雑誌        Intern Med 44:987-9 (2005)
 DOI:<a href=""https://doi.org/10.2169/internalmedicine.44.987"">10.2169/internalmedicine.44.987</a>"
H01728,ポッター症候群,,,"Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during middle gestational weeks. Renal failure is the main defect in Potter syndrome. Other characteristic features include premature birth, breech presentation, atypical facial appearance, and limb malformations. Severe respiratory insufficiency leads to a fatal outcome in most infants. Potter syndrome has been divided into 4 distinct subgroups. Potter syndrome type I is referred to as autosomal recessive polycystic kidney disease (ARPKD), type II as renal dysplasia, type III as autosomal dominant polycystic kidney disease (ADPKD), and type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. Particularly types II-IV can be part of many syndromes.",先天奇形,,"(ARPKD) PKHD1 [HSA:5314] [KO:K19865]
 (ADPKD) PKD1 [HSA:5310] [KO:K04985]
 (ADPKD) PKD2 [HSA:5311] [KO:K04986]
 (ADPKD) GANAB [HSA:23193] [KO:K05546]
 (RA) ITGA8 [HSA:8516] [KO:K06584]
 (RA) FGF20 [HSA:26281] [KO:K04358]",,,,,See also H00542 Polycystic kidney disease.,"ICD-11: LB30.00
 ICD-10: Q60.6
 MeSH: C536482
 OMIM: 606702 173900 613095 600666 191830 615721","PMID:14120686
 著者        OSATHANONDH V, POTTER EL
 タイトル      PATHOGENESIS OF POLYCYSTIC KIDNEYS. SURVEY OF RESULTS OF MICRODISSECTION.
 雑誌        Arch Pathol 77:510-2 (1964)
 PMID:25673607
 著者        Sarkar S, DasGupta S, Barua M, Ghosh R, Mondal K, Chatterjee U, Datta C
 タイトル      Potter's sequence: a story of the rare, rarer and the rarest.
 雑誌        Indian J Pathol Microbiol 58:102-4 (2015)
 DOI:10.4103/0377-4929.151202
 PMID:24584572
 著者        Bergmann C
 タイトル      ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
 雑誌        Pediatr Nephrol 30:15-30 (2015)
 DOI:10.1007/s00467-013-2706-2
 PMID:24027716
 著者        Shastry SM, Kolte SS, Sanagapati PR
 タイトル      Potter's Sequence.
 雑誌        J Clin Neonatol 1:157-9 (2012)
 DOI:10.4103/2249-4847.101705
 PMID:18947299
 著者        Harris PC, Torres VE
 タイトル      Polycystic kidney disease.
 雑誌        Annu Rev Med 60:321-37 (2009)
 DOI:10.1146/annurev.med.60.101707.125712
 PMID:27259053
 著者        Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
 タイトル      Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
 雑誌        Am J Hum Genet 98:1193-207 (2016)
 DOI:10.1016/j.ajhg.2016.05.004
 PMID:24439109
 著者        Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
 タイトル      Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
 雑誌        Am J Hum Genet 94:288-94 (2014)
 DOI:10.1016/j.ajhg.2013.12.017
 PMID:22698282
 著者        Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
 タイトル      FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
 雑誌        Dev Cell 22:1191-207 (2012)
 DOI:10.1016/j.devcel.2012.04.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01728"">H01728</a>",ポッター症候群,"Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during middle gestational weeks. Renal failure is the main defect in Potter syndrome. Other characteristic features include premature birth, breech presentation, atypical facial appearance, and limb malformations. Severe respiratory insufficiency leads to a fatal outcome in most infants. Potter syndrome has been divided into 4 distinct subgroups. Potter syndrome type I is referred to as autosomal recessive polycystic kidney disease (ARPKD), type II as renal dysplasia, type III as autosomal dominant polycystic kidney disease (ADPKD), and type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. Particularly types II-IV can be part of many syndromes.",,"(ARPKD) PKHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5314"">5314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19865"">K19865</a>]
 (ADPKD) PKD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5310"">5310</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04985"">K04985</a>]
 (ADPKD) PKD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5311"">5311</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04986"">K04986</a>]
 (ADPKD) GANAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23193"">23193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05546"">K05546</a>]
 (RA) ITGA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8516"">8516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06584"">K06584</a>]
 (RA) FGF20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26281"">26281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00542"">H00542</a> Polycystic kidney disease.","ICD-11: LB30.00
 ICD-10: Q60.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536482"">C536482</a>
 OMIM: <a href=""https://www.omim.org/entry/606702"">606702</a> <a href=""https://www.omim.org/entry/173900"">173900</a> <a href=""https://www.omim.org/entry/613095"">613095</a> <a href=""https://www.omim.org/entry/600666"">600666</a> <a href=""https://www.omim.org/entry/191830"">191830</a> <a href=""https://www.omim.org/entry/615721"">615721</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14120686"">14120686</a>
 著者        OSATHANONDH V, POTTER EL
 タイトル      PATHOGENESIS OF POLYCYSTIC KIDNEYS. SURVEY OF RESULTS OF MICRODISSECTION.
 雑誌        Arch Pathol 77:510-2 (1964)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25673607"">25673607</a>
 著者        Sarkar S, DasGupta S, Barua M, Ghosh R, Mondal K, Chatterjee U, Datta C
 タイトル      Potter's sequence: a story of the rare, rarer and the rarest.
 雑誌        Indian J Pathol Microbiol 58:102-4 (2015)
 DOI:<a href=""https://doi.org/10.4103/0377-4929.151202"">10.4103/0377-4929.151202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24584572"">24584572</a>
 著者        Bergmann C
 タイトル      ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
 雑誌        Pediatr Nephrol 30:15-30 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00467-013-2706-2"">10.1007/s00467-013-2706-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24027716"">24027716</a>
 著者        Shastry SM, Kolte SS, Sanagapati PR
 タイトル      Potter's Sequence.
 雑誌        J Clin Neonatol 1:157-9 (2012)
 DOI:<a href=""https://doi.org/10.4103/2249-4847.101705"">10.4103/2249-4847.101705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18947299"">18947299</a>
 著者        Harris PC, Torres VE
 タイトル      Polycystic kidney disease.
 雑誌        Annu Rev Med 60:321-37 (2009)
 DOI:<a href=""https://doi.org/10.1146/annurev.med.60.101707.125712"">10.1146/annurev.med.60.101707.125712</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259053"">27259053</a>
 著者        Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC
 タイトル      Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
 雑誌        Am J Hum Genet 98:1193-207 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.004"">10.1016/j.ajhg.2016.05.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24439109"">24439109</a>
 著者        Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
 タイトル      Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
 雑誌        Am J Hum Genet 94:288-94 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.12.017"">10.1016/j.ajhg.2013.12.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22698282"">22698282</a>
 著者        Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
 タイトル      FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
 雑誌        Dev Cell 22:1191-207 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.devcel.2012.04.018"">10.1016/j.devcel.2012.04.018</a>"
H01729,心室期外収縮,,,"Premature ventricular complex (PVC) is characterized by the premature occurrence of a QRS complex that is bizarre in shape and lasts longer than 120 msec. The T wave is large and usually of opposite polarity to the QRS complex. A PVC is usually followed by a full compensatory pause. PVCs are commonly encountered in apparently healthy individuals with a reported incidence of approximately 1% on standard 12-lead electrocardiograms (ECG) and 40% to 75% on routine 24 hour to 48 hour Holter monitoring. The clinical presentation may range from asymptomatic to left ventricular (LV) dysfunction with congestive heart failure. In many patients, ectopic ventricular events manifest as asymptomatic, isolated PVCs that have a benign prognosis in those without structural heart disease. In others, PVCs may be frequent and highly symptomatic, presenting as palpitations, chest discomfort, or presyncope. Clinical evidence suggests that frequent PVCs (variably defined in the literature) are more strongly associated with concomitant cardiac disease. The decision to suppress PVCs is largely based on the presence of symptoms, interference with other therapy (e.g., cardiac resynchronization therapy), or suspicion of PVC-mediated cardiomyopathy. When necessary, treatment for PVCs involves beta-blockers, calcium channel blockers, or other antiarrhythmic drugs and catheter ablation in selected cases. Catheter ablation of frequent PVCs has been demonstrated to be effective at PVC suppression and is associated with improvement or normalization of ventricular function.",循環器疾患,,,,"Stimulants: caffeine, cocaine, alcohol
 Metabolic abnormalities: acidosis, hypoxemia, hyperkalemia, hypokalemia, hypomagnesemia
 Drugs: Digoxin [CPD:C06956], Theophylline [CPD:C07130], Antipsychotics, Tricyclic antidepressants",,"プロカインアミド塩酸塩 [DR:D00477]
 キニジン硫酸塩水和物 [DR:D02272]
 プロプラノロール塩酸塩 [DR:D00483]
 アテノロール [DR:D00235]
 アセブトロール塩酸塩 [DR:D00597]
 ジソピラミド [DR:D00303]
 フレカイニド酢酸塩 [DR:D00638]
 ピルシカイニド塩酸塩水和物 [DR:D01554]",,"ICD-11: 7A42
 ICD-10: I49.1 I49.2 I49.3 I49.4
 MeSH: D018879","PMID:25741605
 著者        Eugenio PL
 タイトル      Frequent Premature Ventricular Contractions: An Electrical Link to Cardiomyopathy.
 雑誌        Cardiol Rev 23:168-72 (2015)
 DOI:10.1097/CRD.0000000000000063
 PMID:25678299
 著者        Saurav A, Smer A, Abuzaid A, Bansal O, Abuissa H
 タイトル      Premature ventricular contraction-induced cardiomyopathy.
 雑誌        Clin Cardiol 38:251-8 (2015)
 DOI:10.1002/clc.22371
 PMID:23733905 (description, drug)
 著者        Cantillon DJ
 タイトル      Evaluation and management of premature ventricular complexes.
 雑誌        Cleve Clin J Med 80:377-87 (2013)
 DOI:10.3949/ccjm.80a.12168
 PMID:22875587
 著者        Adams JC, Srivathsan K, Shen WK
 タイトル      Advances in management of premature ventricular contractions.
 雑誌        J Interv Card Electrophysiol 35:137-49 (2012)
 DOI:10.1007/s10840-012-9698-x
 PMID:12086238 (description, env_factor, drug)
 著者        Hebbar AK, Hueston WJ
 タイトル      Management of common arrhythmias: Part II. Ventricular arrhythmias and arrhythmias in special populations.
 雑誌        Am Fam Physician 65:2491-6 (2002)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01729"">H01729</a>",心室期外収縮,"Premature ventricular complex (PVC) is characterized by the premature occurrence of a QRS complex that is bizarre in shape and lasts longer than 120 msec. The T wave is large and usually of opposite polarity to the QRS complex. A PVC is usually followed by a full compensatory pause. PVCs are commonly encountered in apparently healthy individuals with a reported incidence of approximately 1% on standard 12-lead electrocardiograms (ECG) and 40% to 75% on routine 24 hour to 48 hour Holter monitoring. The clinical presentation may range from asymptomatic to left ventricular (LV) dysfunction with congestive heart failure. In many patients, ectopic ventricular events manifest as asymptomatic, isolated PVCs that have a benign prognosis in those without structural heart disease. In others, PVCs may be frequent and highly symptomatic, presenting as palpitations, chest discomfort, or presyncope. Clinical evidence suggests that frequent PVCs (variably defined in the literature) are more strongly associated with concomitant cardiac disease. The decision to suppress PVCs is largely based on the presence of symptoms, interference with other therapy (e.g., cardiac resynchronization therapy), or suspicion of PVC-mediated cardiomyopathy. When necessary, treatment for PVCs involves beta-blockers, calcium channel blockers, or other antiarrhythmic drugs and catheter ablation in selected cases. Catheter ablation of frequent PVCs has been demonstrated to be effective at PVC suppression and is associated with improvement or normalization of ventricular function.",,,,"Stimulants: caffeine, cocaine, alcohol
 Metabolic abnormalities: acidosis, hypoxemia, hyperkalemia, hypokalemia, hypomagnesemia
 Drugs: Digoxin [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C06956],"">C06956],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:Theophylline"">Theophylline</a> [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07130],"">C07130],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:Antipsychotics,"">Antipsychotics,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:Tricyclic"">Tricyclic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:antidepressants"">antidepressants</a>",,"プロカインアミド塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00477"">D00477</a>]
 キニジン硫酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02272"">D02272</a>]
 プロプラノロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00483"">D00483</a>]
 アテノロール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00235"">D00235</a>]
 アセブトロール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00597"">D00597</a>]
 ジソピラミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00303"">D00303</a>]
 フレカイニド酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00638"">D00638</a>]
 ピルシカイニド塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01554"">D01554</a>]",,"ICD-11: 7A42
 ICD-10: I49.1 I49.2 I49.3 I49.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018879"">D018879</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25741605"">25741605</a>
 著者        Eugenio PL
 タイトル      Frequent Premature Ventricular Contractions: An Electrical Link to Cardiomyopathy.
 雑誌        Cardiol Rev 23:168-72 (2015)
 DOI:<a href=""https://doi.org/10.1097/CRD.0000000000000063"">10.1097/CRD.0000000000000063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25678299"">25678299</a>
 著者        Saurav A, Smer A, Abuzaid A, Bansal O, Abuissa H
 タイトル      Premature ventricular contraction-induced cardiomyopathy.
 雑誌        Clin Cardiol 38:251-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/clc.22371"">10.1002/clc.22371</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23733905"">23733905</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Cantillon DJ
 タイトル      Evaluation and management of premature ventricular complexes.
 雑誌        Cleve Clin J Med 80:377-87 (2013)
 DOI:<a href=""https://doi.org/10.3949/ccjm.80a.12168"">10.3949/ccjm.80a.12168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22875587"">22875587</a>
 著者        Adams JC, Srivathsan K, Shen WK
 タイトル      Advances in management of premature ventricular contractions.
 雑誌        J Interv Card Electrophysiol 35:137-49 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10840-012-9698-x"">10.1007/s10840-012-9698-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12086238"">12086238</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor,"">env_factor,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Hebbar AK, Hueston WJ
 タイトル      Management of common arrhythmias: Part II. Ventricular arrhythmias and arrhythmias in special populations.
 雑誌        Am Fam Physician 65:2491-6 (2002)"
H01730,心筋梗塞,,,"Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood flow to the heart and injuring heart muscles because of lack of oxygen supply. The symptoms of MI include chest pain, which travels from left arm to neck, shortness of breath, nausea, epigastric discomfort, syncope, diaphoresis, and other factors. The diagnosis of MI is dependent on the sensitivity and specificity of the clinical criteria, electrocardiographic (ECG) findings, imaging studies and biomarkers used to detect death of cardiomyocytes. The treatment of MI includes, aspirin tablets, and to dissolve arterial blockage injection of thrombolytic or clot dissolving drugs such as tissue plasminogen activator, streptokinase or urokinase in blood within 3 h of the onset of a heart attack. Nitroglycerin and antihypertensive drugs such as beta-blockers and ACE inhibitors may also be used to lower blood pressure and to improve the oxygen demand of heart.",循環器疾患,,"ESR1 [HSA:2099] [KO:K08550]
 F13A1 [HSA:2162] [KO:K03917]
 F7 [HSA:2155] [KO:K01320]
 GCLC [HSA:2729] [KO:K11204]
 GCLM [HSA:2730] [KO:K11205]
 ITGB3 [HSA:3690] [KO:K06493]
 LRP8 [HSA:7804] [KO:K20052]
 LTA [HSA:4049] [KO:K05468]
 OLR1 [HSA:4973] [KO:K08763]
 PSMA6 [HSA:5687] [KO:K02730]
 TNFSF4 [HSA:7292] [KO:K05469]",,,,"ベラパミル塩酸塩 [DR:D00619]
 ニトログリセリン [DR:D00515]
 硝酸イソソルビド [DR:D00516]
 ノルアドレナリン [DR:D00076]
 ヘパリンナトリウム [DR:D02112]
 プラスグレル塩酸塩 [DR:D05597]
 アスピリン・ランソプラゾール [DR:D10527]",,"ICD-11: BA41
 ICD-10: I21
 MeSH: D009203
 OMIM: 608446","PMID:25638347
 著者        Lu L, Liu M, Sun R, Zheng Y, Zhang P
 タイトル      Myocardial Infarction: Symptoms and Treatments.
 雑誌        Cell Biochem Biophys 72:865-7 (2015)
 DOI:10.1007/s12013-015-0553-4
 PMID:22922597
 著者        Thygesen K, Alpert JS, Jaffe AS, Simoons ML, Chaitman BR, White HD
 タイトル      Third universal definition of myocardial infarction.
 雑誌        Nat Rev Cardiol 9:620-33 (2012)
 DOI:10.1038/nrcardio.2012.122
 PMID:26426469
 著者        Frangogiannis NG
 タイトル      Pathophysiology of Myocardial Infarction.
 雑誌        Compr Physiol 5:1841-75 (2015)
 DOI:10.1002/cphy.c150006
 PMID:22061094 (ESR1)
 著者        Puzianowska-Kuznicka M
 タイトル      ESR1 in myocardial infarction.
 雑誌        Clin Chim Acta 413:81-7 (2012)
 DOI:10.1016/j.cca.2011.10.028
 PMID:30972713 (F13A1)
 著者        Ambroziak M, Kurylowicz A, Budaj A
 タイトル      Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients.
 雑誌        J Thromb Thrombolysis 48:519-527 (2019)
 DOI:10.1007/s11239-019-01856-3
 PMID:10984565 (F7)
 著者        Girelli D, Russo C, Ferraresi P, Olivieri O, Pinotti M, Friso S, Manzato F, Mazzucco A, Bernardi F, Corrocher R
 タイトル      Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.
 雑誌        N Engl J Med 343:774-80 (2000)
 DOI:10.1056/NEJM200009143431104
 PMID:12598062 (GCLC)
 著者        Koide S, Kugiyama K, Sugiyama S, Nakamura S, Fukushima H, Honda O, Yoshimura M, Ogawa H
 タイトル      Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction.
 雑誌        J Am Coll Cardiol 41:539-45 (2003)
 DOI:10.1016/s0735-1097(02)02866-8
 PMID:12081989 (GCLM)
 著者        Nakamura S, Kugiyama K, Sugiyama S, Miyamoto S, Koide S, Fukushima H, Honda O, Yoshimura M, Ogawa H
 タイトル      Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.
 雑誌        Circulation 105:2968-73 (2002)
 DOI:10.1161/01.cir.0000019739.66514.1e
 PMID:31457051 (ITGB3)
 著者        Sheikhvatan M, Boroumand MA, Behmanesh M, Ziaee S, Cheraghee S
 タイトル      Integrin Beta-3 Gene Polymorphism and Risk for Myocardial Infarction in Premature Coronary Disease.
 雑誌        Iran J Biotechnol 17:e1921 (2019)
 DOI:10.21859/ijb.1921
 PMID:34122585 (LRP8)
 著者        Ghorbani MJ, Razmi N, Tabei SMB, Zibaeenezhad MJ, Goodarzi HR
 タイトル      A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.
 雑誌        ARYA Atheroscler 16:301-305 (2020)
 DOI:10.22122/arya.v16i6.1797
 PMID:12426569 (LTA)
 著者        Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H, Sato H, Hori M, Nakamura Y, Tanaka T
 タイトル      Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.
 雑誌        Nat Genet 32:650-4 (2002)
 DOI:10.1038/ng1047
 PMID:12646194 (OLR1)
 著者        Tatsuguchi M, Furutani M, Hinagata J, Tanaka T, Furutani Y, Imamura S, Kawana M, Masaki T, Kasanuki H, Sawamura T, Matsuoka R
 タイトル      Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.
 雑誌        Biochem Biophys Res Commun 303:247-50 (2003)
 DOI:10.1016/s0006-291x(03)00326-7
 PMID:16845397 (PSMA6)
 著者        Ozaki K, Sato H, Iida A, Mizuno H, Nakamura T, Miyamoto Y, Takahashi A, Tsunoda T, Ikegawa S, Kamatani N, Hori M, Nakamura Y, Tanaka T
 タイトル      A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population.
 雑誌        Nat Genet 38:921-5 (2006)
 DOI:10.1038/ng1846
 PMID:15750594 (TNFSF4)
 著者        Wang X, Ria M, Kelmenson PM, Eriksson P, Higgins DC, Samnegard A, Petros C, Rollins J, Bennet AM, Wiman B, de Faire U, Wennberg C, Olsson PG, Ishii N, Sugamura K, Hamsten A, Forsman-Semb K, Lagercrantz J, Paigen B
 タイトル      Positional identification of TNFSF4, encoding OX40 ligand, as a gene that influences atherosclerosis susceptibility.
 雑誌        Nat Genet 37:365-72 (2005)
 DOI:10.1038/ng1524","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01730"">H01730</a>",心筋梗塞,"Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood flow to the heart and injuring heart muscles because of lack of oxygen supply. The symptoms of MI include chest pain, which travels from left arm to neck, shortness of breath, nausea, epigastric discomfort, syncope, diaphoresis, and other factors. The diagnosis of MI is dependent on the sensitivity and specificity of the clinical criteria, electrocardiographic (ECG) findings, imaging studies and biomarkers used to detect death of cardiomyocytes. The treatment of MI includes, aspirin tablets, and to dissolve arterial blockage injection of thrombolytic or clot dissolving drugs such as tissue plasminogen activator, streptokinase or urokinase in blood within 3 h of the onset of a heart attack. Nitroglycerin and antihypertensive drugs such as beta-blockers and ACE inhibitors may also be used to lower blood pressure and to improve the oxygen demand of heart.",,"ESR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2099"">2099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08550"">K08550</a>]
 F13A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2162"">2162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03917"">K03917</a>]
 F7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2155"">2155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01320"">K01320</a>]
 GCLC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2729"">2729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11204"">K11204</a>]
 GCLM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2730"">2730</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11205"">K11205</a>]
 ITGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3690"">3690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06493"">K06493</a>]
 LRP8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7804"">7804</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20052"">K20052</a>]
 LTA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4049"">4049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05468"">K05468</a>]
 OLR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4973"">4973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08763"">K08763</a>]
 PSMA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5687"">5687</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02730"">K02730</a>]
 TNFSF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7292"">7292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05469"">K05469</a>]",,,,"ベラパミル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00619"">D00619</a>]
 ニトログリセリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00515"">D00515</a>]
 硝酸イソソルビド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00516"">D00516</a>]
 ノルアドレナリン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00076"">D00076</a>]
 ヘパリンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02112"">D02112</a>]
 プラスグレル塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05597"">D05597</a>]
 アスピリン・ランソプラゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10527"">D10527</a>]",,"ICD-11: BA41
 ICD-10: I21
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009203"">D009203</a>
 OMIM: <a href=""https://www.omim.org/entry/608446"">608446</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25638347"">25638347</a>
 著者        Lu L, Liu M, Sun R, Zheng Y, Zhang P
 タイトル      Myocardial Infarction: Symptoms and Treatments.
 雑誌        Cell Biochem Biophys 72:865-7 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12013-015-0553-4"">10.1007/s12013-015-0553-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22922597"">22922597</a>
 著者        Thygesen K, Alpert JS, Jaffe AS, Simoons ML, Chaitman BR, White HD
 タイトル      Third universal definition of myocardial infarction.
 雑誌        Nat Rev Cardiol 9:620-33 (2012)
 DOI:<a href=""https://doi.org/10.1038/nrcardio.2012.122"">10.1038/nrcardio.2012.122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26426469"">26426469</a>
 著者        Frangogiannis NG
 タイトル      Pathophysiology of Myocardial Infarction.
 雑誌        Compr Physiol 5:1841-75 (2015)
 DOI:<a href=""https://doi.org/10.1002/cphy.c150006"">10.1002/cphy.c150006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22061094"">22061094</a> (ESR1)
 著者        Puzianowska-Kuznicka M
 タイトル      ESR1 in myocardial infarction.
 雑誌        Clin Chim Acta 413:81-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2011.10.028"">10.1016/j.cca.2011.10.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30972713"">30972713</a> (F13A1)
 著者        Ambroziak M, Kurylowicz A, Budaj A
 タイトル      Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients.
 雑誌        J Thromb Thrombolysis 48:519-527 (2019)
 DOI:<a href=""https://doi.org/10.1007/s11239-019-01856-3"">10.1007/s11239-019-01856-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10984565"">10984565</a> (F7)
 著者        Girelli D, Russo C, Ferraresi P, Olivieri O, Pinotti M, Friso S, Manzato F, Mazzucco A, Bernardi F, Corrocher R
 タイトル      Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.
 雑誌        N Engl J Med 343:774-80 (2000)
 DOI:<a href=""https://doi.org/10.1056/NEJM200009143431104"">10.1056/NEJM200009143431104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12598062"">12598062</a> (GCLC)
 著者        Koide S, Kugiyama K, Sugiyama S, Nakamura S, Fukushima H, Honda O, Yoshimura M, Ogawa H
 タイトル      Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction.
 雑誌        J Am Coll Cardiol 41:539-45 (2003)
 DOI:<a href=""https://doi.org/10.1016/s0735-1097(02)02866-8"">10.1016/s0735-1097(02)02866-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12081989"">12081989</a> (GCLM)
 著者        Nakamura S, Kugiyama K, Sugiyama S, Miyamoto S, Koide S, Fukushima H, Honda O, Yoshimura M, Ogawa H
 タイトル      Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.
 雑誌        Circulation 105:2968-73 (2002)
 DOI:<a href=""https://doi.org/10.1161/01.cir.0000019739.66514.1e"">10.1161/01.cir.0000019739.66514.1e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31457051"">31457051</a> (ITGB3)
 著者        Sheikhvatan M, Boroumand MA, Behmanesh M, Ziaee S, Cheraghee S
 タイトル      Integrin Beta-3 Gene Polymorphism and Risk for Myocardial Infarction in Premature Coronary Disease.
 雑誌        Iran J Biotechnol 17:e1921 (2019)
 DOI:<a href=""https://doi.org/10.21859/ijb.1921"">10.21859/ijb.1921</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34122585"">34122585</a> (LRP8)
 著者        Ghorbani MJ, Razmi N, Tabei SMB, Zibaeenezhad MJ, Goodarzi HR
 タイトル      A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.
 雑誌        ARYA Atheroscler 16:301-305 (2020)
 DOI:<a href=""https://doi.org/10.22122/arya.v16i6.1797"">10.22122/arya.v16i6.1797</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12426569"">12426569</a> (LTA)
 著者        Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H, Sato H, Hori M, Nakamura Y, Tanaka T
 タイトル      Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.
 雑誌        Nat Genet 32:650-4 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng1047"">10.1038/ng1047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12646194"">12646194</a> (OLR1)
 著者        Tatsuguchi M, Furutani M, Hinagata J, Tanaka T, Furutani Y, Imamura S, Kawana M, Masaki T, Kasanuki H, Sawamura T, Matsuoka R
 タイトル      Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.
 雑誌        Biochem Biophys Res Commun 303:247-50 (2003)
 DOI:<a href=""https://doi.org/10.1016/s0006-291x(03)00326-7"">10.1016/s0006-291x(03)00326-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16845397"">16845397</a> (PSMA6)
 著者        Ozaki K, Sato H, Iida A, Mizuno H, Nakamura T, Miyamoto Y, Takahashi A, Tsunoda T, Ikegawa S, Kamatani N, Hori M, Nakamura Y, Tanaka T
 タイトル      A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population.
 雑誌        Nat Genet 38:921-5 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1846"">10.1038/ng1846</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15750594"">15750594</a> (TNFSF4)
 著者        Wang X, Ria M, Kelmenson PM, Eriksson P, Higgins DC, Samnegard A, Petros C, Rollins J, Bennet AM, Wiman B, de Faire U, Wennberg C, Olsson PG, Ishii N, Sugamura K, Hamsten A, Forsman-Semb K, Lagercrantz J, Paigen B
 タイトル      Positional identification of TNFSF4, encoding OX40 ligand, as a gene that influences atherosclerosis susceptibility.
 雑誌        Nat Genet 37:365-72 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1524"">10.1038/ng1524</a>"
H01731,"脆弱Ｘ症候群関連疾患;
 脆弱X随伴振戦／失調症候群",,,"Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common manifestations of FXTAS are progressive intention tremor, cerebellar gait ataxia, parkinsonism, working memory impairment, and frontal executive dysfunction. FXTAS occurs predominantly in men over age 50 years.",染色体異常,,FMR1 [HSA:2332] [KO:K15516],,,,,"See also H00465 Fragile X syndrome (FXS).
 (FXR) Full mutation expansions (>200 CGG repeats)
 (FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)","ICD-11: LD55
 ICD-10: Q99.2
 MeSH: C564105
 OMIM: 300623","PMID:18057320
 著者        Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ
 タイトル      FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
 雑誌        Neurology 70:1397-402 (2008)
 DOI:10.1212/01.wnl.0000281692.98200.f5
 PMID:24491663
 著者        Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L
 タイトル      Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.
 雑誌        Parkinsonism Relat Disord 20:456-9 (2014)
 DOI:10.1016/j.parkreldis.2014.01.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01731"">H01731</a>","脆弱Ｘ症候群関連疾患;
 脆弱X随伴振戦／失調症候群","Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common manifestations of FXTAS are progressive intention tremor, cerebellar gait ataxia, parkinsonism, working memory impairment, and frontal executive dysfunction. FXTAS occurs predominantly in men over age 50 years.",,"FMR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2332"">2332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15516"">K15516</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00465"">H00465</a> Fragile X syndrome (FXS).
 (FXR) Full mutation expansions (>200 CGG repeats)
 (FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)","ICD-11: LD55
 ICD-10: Q99.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564105"">C564105</a>
 OMIM: <a href=""https://www.omim.org/entry/300623"">300623</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18057320"">18057320</a>
 著者        Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ
 タイトル      FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
 雑誌        Neurology 70:1397-402 (2008)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000281692.98200.f5"">10.1212/01.wnl.0000281692.98200.f5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24491663"">24491663</a>
 著者        Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L
 タイトル      Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.
 雑誌        Parkinsonism Relat Disord 20:456-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.parkreldis.2014.01.006"">10.1016/j.parkreldis.2014.01.006</a>"
H01732,アンジェルマン症候群,,,"Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.",染色体異常,,UBE3A [HSA:7337] [KO:K10587],,,,,See also H00478 Prader-Willi syndrome (PWS).,"ICD-11: LD90.0
 ICD-10: Q93.5
 MeSH: D017204
 OMIM: 105830","PMID:11180221
 著者        Cassidy SB, Dykens E, Williams CA
 タイトル      Prader-Willi and Angelman syndromes: sister imprinted disorders.
 雑誌        Am J Med Genet 97:136-46 (2000)
 DOI:10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
 PMID:21592595
 著者        Mabb AM, Judson MC, Zylka MJ, Philpot BD
 タイトル      Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
 雑誌        Trends Neurosci 34:293-303 (2011)
 DOI:10.1016/j.tins.2011.04.001
 PMID:18627066
 著者        Horsthemke B, Wagstaff J
 タイトル      Mechanisms of imprinting of the Prader-Willi/Angelman region.
 雑誌        Am J Med Genet A 146A:2041-52 (2008)
 DOI:10.1002/ajmg.a.32364
 PMID:20211139
 著者        Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME
 タイトル      The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
 雑誌        Cell 140:704-16 (2010)
 DOI:10.1016/j.cell.2010.01.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732"">H01732</a>",アンジェルマン症候群,"Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.",,"UBE3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7337"">7337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10587"">K10587</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00478"">H00478</a> Prader-Willi syndrome (PWS).","ICD-11: LD90.0
 ICD-10: Q93.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017204"">D017204</a>
 OMIM: <a href=""https://www.omim.org/entry/105830"">105830</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11180221"">11180221</a>
 著者        Cassidy SB, Dykens E, Williams CA
 タイトル      Prader-Willi and Angelman syndromes: sister imprinted disorders.
 雑誌        Am J Med Genet 97:136-46 (2000)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(200022)97:"">10.1002/1096-8628(200022)97:</a><a href=""https://doi.org/2<136:"">2<136:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-V"">AID-AJMG5>3.0.CO;2-V</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21592595"">21592595</a>
 著者        Mabb AM, Judson MC, Zylka MJ, Philpot BD
 タイトル      Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
 雑誌        Trends Neurosci 34:293-303 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.tins.2011.04.001"">10.1016/j.tins.2011.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18627066"">18627066</a>
 著者        Horsthemke B, Wagstaff J
 タイトル      Mechanisms of imprinting of the Prader-Willi/Angelman region.
 雑誌        Am J Med Genet A 146A:2041-52 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32364"">10.1002/ajmg.a.32364</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20211139"">20211139</a>
 著者        Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME
 タイトル      The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
 雑誌        Cell 140:704-16 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2010.01.026"">10.1016/j.cell.2010.01.026</a>"
H01733,"ウェルナー症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:H00296]",,,"Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. WS patients also experience an increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutations of WRN gene, that play a major role in genome stability, particularly during DNA replication and telomere metabolism.",内分泌代謝疾患,,WRN [HSA:7486] [KO:K10900],,,,,Disorder of DNA repair system,"ICD-11: LD2B
 ICD-10: E34.8
 MeSH: D014898
 OMIM: 277700","PMID:12200042
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:10.1016/S1357-2725(02)00039-0
 PMID:17314245
 著者        Multani AS, Chang S
 タイトル      WRN at telomeres: implications for aging and cancer.
 雑誌        J Cell Sci 120:713-21 (2007)
 DOI:10.1242/jcs.03397","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01733"">H01733</a>","ウェルナー症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00296"">H00296</a>]","Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. WS patients also experience an increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutations of WRN gene, that play a major role in genome stability, particularly during DNA replication and telomere metabolism.",,"WRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7486"">7486</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10900"">K10900</a>]",,,,,Disorder of DNA repair system,"ICD-11: LD2B
 ICD-10: E34.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014898"">D014898</a>
 OMIM: <a href=""https://www.omim.org/entry/277700"">277700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12200042"">12200042</a>
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1357-2725(02)00039-0"">10.1016/S1357-2725(02)00039-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17314245"">17314245</a>
 著者        Multani AS, Chang S
 タイトル      WRN at telomeres: implications for aging and cancer.
 雑誌        J Cell Sci 120:713-21 (2007)
 DOI:<a href=""https://doi.org/10.1242/jcs.03397"">10.1242/jcs.03397</a>"
H01734,"ロスムンド・トムソン症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:H00296]",,,"Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance.",先天奇形,,"(RTS1) ANAPC1 [HSA:64682] [KO:K03348]
 (RTS2) RECQL4 [HSA:9401] [KO:K10730]",,,,,,"ICD-11: LD2B
 ICD-10: Q82.8
 MeSH: D011038
 OMIM: 618625 268400","PMID:12200042
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:10.1016/S1357-2725(02)00039-0
 PMID:24960165
 著者        Smeets MF, DeLuca E, Wall M, Quach JM, Chalk AM, Deans AJ, Heierhorst J, Purton LE, Izon DJ, Walkley CR
 タイトル      The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
 雑誌        J Clin Invest 124:3551-65 (2014)
 DOI:10.1172/JCI75334
 PMID:23683351
 著者        Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL, Bohr VA
 タイトル      The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
 雑誌        DNA Repair (Amst) 12:518-28 (2013)
 DOI:10.1016/j.dnarep.2013.04.005
 PMID:31303264
 著者        Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM
 タイトル      Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
 雑誌        Am J Hum Genet 105:625-630 (2019)
 DOI:10.1016/j.ajhg.2019.06.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01734"">H01734</a>","ロスムンド・トムソン症候群
 上位グループ    RecQヘリカーゼ欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00296"">H00296</a>]","Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance.",,"(RTS1) ANAPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64682"">64682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03348"">K03348</a>]
 (RTS2) RECQL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9401"">9401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10730"">K10730</a>]",,,,,,"ICD-11: LD2B
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011038"">D011038</a>
 OMIM: <a href=""https://www.omim.org/entry/618625"">618625</a> <a href=""https://www.omim.org/entry/268400"">268400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12200042"">12200042</a>
 著者        Mohaghegh P, Hickson ID
 タイトル      Premature aging in RecQ helicase-deficient human syndromes.
 雑誌        Int J Biochem Cell Biol 34:1496-501 (2002)
 DOI:<a href=""https://doi.org/10.1016/S1357-2725(02)00039-0"">10.1016/S1357-2725(02)00039-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24960165"">24960165</a>
 著者        Smeets MF, DeLuca E, Wall M, Quach JM, Chalk AM, Deans AJ, Heierhorst J, Purton LE, Izon DJ, Walkley CR
 タイトル      The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
 雑誌        J Clin Invest 124:3551-65 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI75334"">10.1172/JCI75334</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23683351"">23683351</a>
 著者        Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL, Bohr VA
 タイトル      The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
 雑誌        DNA Repair (Amst) 12:518-28 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.dnarep.2013.04.005"">10.1016/j.dnarep.2013.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31303264"">31303264</a>
 著者        Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM
 タイトル      Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
 雑誌        Am J Hum Genet 105:625-630 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.011"">10.1016/j.ajhg.2019.06.011</a>"
H01735,リンパ管腫症,,,"Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. The lymphangiomatosis spectrum encompasses a remarkable heterogeneity in its potential presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue presentations known as Gorham disease. The disease can be considered a failure of normal lymphatic development, but the etiology remains poorly understood. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy.",脈管疾患,,,,,,シロリムス [DR:D00753],See also H01471 Lymphangioma.,"ICD-11: 2E81.1
 ICD-10: M89.5
 MeSH: D010015","PMID:18667106
 著者        Naguib MB, Al-Jazan N, Hashem T
 タイトル      Lymphangiomatosis: a differential diagnosis of lytic lesions of the temporal bone.
 雑誌        J Laryngol Otol 122:e23 (2008)
 DOI:10.1017/S0022215108003265
 PMID:25173588
 著者        Rockson SG
 タイトル      Laboratory models for the investigation of lymphangiomatosis.
 雑誌        Microvasc Res 96:64-7 (2014)
 DOI:10.1016/j.mvr.2014.08.007
 PMID:22196284
 著者        Satria MN, Pacheco-Rodriguez G, Moss J
 タイトル      Pulmonary lymphangiomatosis.
 雑誌        Lymphat Res Biol 9:191-3 (2011)
 DOI:10.1089/lrb.2011.0023
 PMID:21518582
 著者        DU MH, Ye RJ, Sun KK, Li JF, Shen DH, Wang J, Gao ZC
 タイトル      Diffuse pulmonary lymphangiomatosis: a case report with literature review.
 雑誌        Chin Med J (Engl) 124:797-800 (2011)
 DOI:10.3760/cma.j.issn.0366-6999.2011.05.033
 PMID:27059187
 著者        Libby LJ, Narula N, Fernandes H, Gruden JF, Wolf DJ, Libby DM
 タイトル      Imatinib Treatment of Lymphangiomatosis (Generalized Lymphatic Anomaly).
 雑誌        J Natl Compr Canc Netw 14:383-6 (2016)
 DOI:10.6004/jnccn.2016.0045
 PMID:19322127
 著者        Barbagallo M, Incorpora G, Magro G, D'Amico S, Pavone V
 タイトル      Splenic lymphangiomatosis associated with skeletal involvement (Gorham's disease): a new case and review of literature.
 雑誌        Minerva Pediatr 61:231-6 (2009)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01735"">H01735</a>",リンパ管腫症,"Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. The lymphangiomatosis spectrum encompasses a remarkable heterogeneity in its potential presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue presentations known as Gorham disease. The disease can be considered a failure of normal lymphatic development, but the etiology remains poorly understood. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy.",,,,,,"シロリムス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00753"">D00753</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01471"">H01471</a> Lymphangioma.","ICD-11: 2E81.1
 ICD-10: M89.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010015"">D010015</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18667106"">18667106</a>
 著者        Naguib MB, Al-Jazan N, Hashem T
 タイトル      Lymphangiomatosis: a differential diagnosis of lytic lesions of the temporal bone.
 雑誌        J Laryngol Otol 122:e23 (2008)
 DOI:<a href=""https://doi.org/10.1017/S0022215108003265"">10.1017/S0022215108003265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25173588"">25173588</a>
 著者        Rockson SG
 タイトル      Laboratory models for the investigation of lymphangiomatosis.
 雑誌        Microvasc Res 96:64-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.mvr.2014.08.007"">10.1016/j.mvr.2014.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22196284"">22196284</a>
 著者        Satria MN, Pacheco-Rodriguez G, Moss J
 タイトル      Pulmonary lymphangiomatosis.
 雑誌        Lymphat Res Biol 9:191-3 (2011)
 DOI:<a href=""https://doi.org/10.1089/lrb.2011.0023"">10.1089/lrb.2011.0023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21518582"">21518582</a>
 著者        DU MH, Ye RJ, Sun KK, Li JF, Shen DH, Wang J, Gao ZC
 タイトル      Diffuse pulmonary lymphangiomatosis: a case report with literature review.
 雑誌        Chin Med J (Engl) 124:797-800 (2011)
 DOI:<a href=""https://doi.org/10.3760/cma.j.issn.0366-6999.2011.05.033"">10.3760/cma.j.issn.0366-6999.2011.05.033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27059187"">27059187</a>
 著者        Libby LJ, Narula N, Fernandes H, Gruden JF, Wolf DJ, Libby DM
 タイトル      Imatinib Treatment of Lymphangiomatosis (Generalized Lymphatic Anomaly).
 雑誌        J Natl Compr Canc Netw 14:383-6 (2016)
 DOI:<a href=""https://doi.org/10.6004/jnccn.2016.0045"">10.6004/jnccn.2016.0045</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19322127"">19322127</a>
 著者        Barbagallo M, Incorpora G, Magro G, D'Amico S, Pavone V
 タイトル      Splenic lymphangiomatosis associated with skeletal involvement (Gorham's disease): a new case and review of literature.
 雑誌        Minerva Pediatr 61:231-6 (2009)"
H01736,総動脈幹遺残症,,,"Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of outflow tract defect, and survival into adulthood is dismal without surgery. It is often associated with an unfavorable prognosis because complete surgical repair is not always possible. Mutations in the NKX2-6 gene and GATA6 gene have been found in patients with PTA. The association between truncus arteriosus and chromosome 22q11 deletion is well recognized.",循環器疾患,,"NKX2-6 [HSA:137814] [KO:K09346]
 GATA6 [HSA:2627] [KO:K17897]",,,,,See also H01525 22q11.2 deletion syndrome.,"ICD-11: LA85.4
 ICD-10: Q20.0
 MeSH: D014339
 OMIM: 217095","PMID:15649947
 著者        Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P
 タイトル      Common arterial trunk associated with a homeodomain mutation of NKX2.6.
 雑誌        Hum Mol Genet 14:585-93 (2005)
 DOI:10.1093/hmg/ddi055
 PMID:19666519
 著者        Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H
 タイトル      GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.
 雑誌        Proc Natl Acad Sci U S A 106:13933-8 (2009)
 DOI:10.1073/pnas.0904744106
 PMID:12947506
 著者        McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E
 タイトル      Chromosome 22q11 deletion in patients with truncus arteriosus.
 雑誌        Pediatr Cardiol 24:569-73 (2003)
 DOI:10.1007/s00246-003-0441-3
 PMID:27025216
 著者        Ruan W, Loh YJ, Guo KW, Tan JL
 タイトル      Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band.
 雑誌        J Cardiothorac Surg 11:39 (2016)
 DOI:10.1186/s13019-016-0435-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01736"">H01736</a>",総動脈幹遺残症,"Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of outflow tract defect, and survival into adulthood is dismal without surgery. It is often associated with an unfavorable prognosis because complete surgical repair is not always possible. Mutations in the NKX2-6 gene and GATA6 gene have been found in patients with PTA. The association between truncus arteriosus and chromosome 22q11 deletion is well recognized.",,"NKX2-6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137814"">137814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09346"">K09346</a>]
 GATA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2627"">2627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17897"">K17897</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a> 22q11.2 deletion syndrome.","ICD-11: LA85.4
 ICD-10: Q20.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014339"">D014339</a>
 OMIM: <a href=""https://www.omim.org/entry/217095"">217095</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15649947"">15649947</a>
 著者        Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P
 タイトル      Common arterial trunk associated with a homeodomain mutation of NKX2.6.
 雑誌        Hum Mol Genet 14:585-93 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi055"">10.1093/hmg/ddi055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19666519"">19666519</a>
 著者        Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H
 タイトル      GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.
 雑誌        Proc Natl Acad Sci U S A 106:13933-8 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0904744106"">10.1073/pnas.0904744106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12947506"">12947506</a>
 著者        McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E
 タイトル      Chromosome 22q11 deletion in patients with truncus arteriosus.
 雑誌        Pediatr Cardiol 24:569-73 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00246-003-0441-3"">10.1007/s00246-003-0441-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27025216"">27025216</a>
 著者        Ruan W, Loh YJ, Guo KW, Tan JL
 タイトル      Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band.
 雑誌        J Cardiothorac Surg 11:39 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13019-016-0435-x"">10.1186/s13019-016-0435-x</a>"
H01737,"表皮水疱症
 下位グループ    単純型表皮水疱症 [DS:H00584]
 接合部型表皮水疱症 [DS:H00586]
 栄養障害型表皮水疱症 [DS:H00587]
 キンドラー症候群 [DS:H00588]
 致死性棘融解性表皮水疱症 (EBLA)",,,"Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.",先天奇形,,(EBLA) DSP [HSA:1832] [KO:K10381],,,,"デキサメタゾン [DR:D00292]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]",,"ICD-11: EC3Z
 ICD-10: Q81
 MeSH: D004820
 OMIM: 609638","PMID:20536471
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:10.1111/j.1749-6632.2010.05463.x
 PMID:24007552
 著者        Tampoia M, Bonamonte D, Filoni A, Garofalo L, Morgese MG, Brunetti L, Di Giorgio C, Annicchiarico G
 タイトル      Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
 雑誌        Orphanet J Rare Dis 8:132 (2013)
 DOI:10.1186/1750-1172-8-132
 PMID:20302578 (DSP)
 著者        Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL
 タイトル      Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
 雑誌        Br J Dermatol 162:1388-94 (2010)
 DOI:10.1111/j.1365-2133.2010.09668.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01737"">H01737</a>","表皮水疱症
 下位グループ    単純型表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00584"">H00584</a>]
 接合部型表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00586"">H00586</a>]
 栄養障害型表皮水疱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00587"">H00587</a>]
 キンドラー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00588"">H00588</a>]
 致死性棘融解性表皮水疱症 (EBLA)","Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.",,"(EBLA) DSP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1832"">1832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10381"">K10381</a>]",,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]",,"ICD-11: EC3Z
 ICD-10: Q81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004820"">D004820</a>
 OMIM: <a href=""https://www.omim.org/entry/609638"">609638</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20536471"">20536471</a>
 著者        Fine JD
 タイトル      Inherited epidermolysis bullosa: past, present, and future.
 雑誌        Ann N Y Acad Sci 1194:213-22 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2010.05463.x"">10.1111/j.1749-6632.2010.05463.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24007552"">24007552</a>
 著者        Tampoia M, Bonamonte D, Filoni A, Garofalo L, Morgese MG, Brunetti L, Di Giorgio C, Annicchiarico G
 タイトル      Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
 雑誌        Orphanet J Rare Dis 8:132 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-132"">10.1186/1750-1172-8-132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20302578"">20302578</a> (DSP)
 著者        Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL
 タイトル      Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
 雑誌        Br J Dermatol 162:1388-94 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2010.09668.x"">10.1111/j.1365-2133.2010.09668.x</a>"
H01738,"ヌーナン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]
 ヌーナン症候群類縁疾患 [DS:H00523]",,,"Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive delay. In addition, individuals with NS have an increased risk of developing cancer. NS is caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. Heterozygous, pathogenic variants in 9 known genes account for approximately 80% of cases. The most common gene associated with NS is PTPN11, which accounts for approximately 50% of all cases.",先天奇形,,"(NS1) PTPN11 [HSA:5781] [KO:K07293]
 (NS3) KRAS [HSA:3845] [KO:K07827]
 (NS4) SOS1 [HSA:6654] [KO:K03099]
 (NS5) RAF1 [HSA:5894] [KO:K04366]
 (NS6) NRAS [HSA:4893] [KO:K07828]
 (NS7) BRAF [HSA:673] [KO:K04365]
 (NS8) RIT1 [HSA:6016] [KO:K07832]
 (NS9) SOS2 [HSA:6655] [KO:K03099]
 (NS10) LZTR1 [HSA:8216] [KO:K23330]
 (NS11) MRAS [HSA:22808] [KO:K07831]
 (NS12) RRAS2 [HSA:22800] [KO:K07830]
 (NS13) MAPK1 [HSA:5594] [KO:K04371]
 (NS14) SPRED2 [HSA:200734] [KO:K04703]",,,,ソマトロピン [DR:D02691],,"ICD-11: LD2F.15
 ICD-10: Q87.1
 MeSH: D009634
 OMIM: 163950 609942 610733 611553 613224 613706 615355 616559 616564 618499 618624 619087 619745","PMID:21396583
 著者        Tartaglia M, Gelb BD, Zenker M
 タイトル      Noonan syndrome and clinically related disorders.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
 DOI:10.1016/j.beem.2010.09.002
 PMID:11704759 (PTPN11)
 著者        Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD
 タイトル      Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
 雑誌        Nat Genet 29:465-8 (2001)
 DOI:10.1038/ng772
 PMID:16474405 (KRAS)
 著者        Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP
 タイトル      Germline KRAS mutations cause Noonan syndrome.
 雑誌        Nat Genet 38:331-6 (2006)
 DOI:10.1038/ng1748
 PMID:17143285 (SOS1)
 著者        Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS
 タイトル      Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
 雑誌        Nat Genet 39:70-4 (2007)
 DOI:10.1038/ng1926
 PMID:17603483 (RAF1)
 著者        Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD
 タイトル      Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 39:1007-12 (2007)
 DOI:10.1038/ng2073
 PMID:19966803 (NRAS)
 著者        Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M
 タイトル      A restricted spectrum of NRAS mutations causes Noonan syndrome.
 雑誌        Nat Genet 42:27-9 (2010)
 DOI:10.1038/ng.497
 PMID:19206169 (BRAF)
 著者        Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M
 タイトル      Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
 雑誌        Hum Mutat 30:695-702 (2009)
 DOI:10.1002/humu.20955
 PMID:23791108 (RIT1)
 著者        Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
 タイトル      Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
 雑誌        Am J Hum Genet 93:173-80 (2013)
 DOI:10.1016/j.ajhg.2013.05.021
 PMID:25795793 (SOS2 LZTR1)
 著者        Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR
 タイトル      Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
 雑誌        J Med Genet 52:413-21 (2015)
 DOI:10.1136/jmedgenet-2015-103018
 PMID:28289718 (MRAS)
 著者        Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ
 タイトル      Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
 雑誌        JCI Insight 2:e91225 (2017)
 DOI:10.1172/jci.insight.91225
 PMID:31130282 (RRAS2)
 著者        Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lissewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cave H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M
 タイトル      Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
 雑誌        Am J Hum Genet 104:1223-1232 (2019)
 DOI:10.1016/j.ajhg.2019.04.013
 PMID:32721402 (MAPK1)
 著者        Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernandez-Jaen A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lissewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Alvarez S, Martinez-Garcia M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M
 タイトル      Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
 雑誌        Am J Hum Genet 107:499-513 (2020)
 DOI:10.1016/j.ajhg.2020.06.018
 PMID:34626534 (SPRED2)
 著者        Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cave H, Zenker M, Tartaglia M
 タイトル      SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
 雑誌        Am J Hum Genet 108:2112-2129 (2021)
 DOI:10.1016/j.ajhg.2021.09.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01738"">H01738</a>","ヌーナン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]
 ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive delay. In addition, individuals with NS have an increased risk of developing cancer. NS is caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. Heterozygous, pathogenic variants in 9 known genes account for approximately 80% of cases. The most common gene associated with NS is PTPN11, which accounts for approximately 50% of all cases.",,"(NS1) PTPN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]
 (NS3) KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 (NS4) SOS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6654"">6654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03099"">K03099</a>]
 (NS5) RAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5894"">5894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04366"">K04366</a>]
 (NS6) NRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 (NS7) BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 (NS8) RIT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6016"">6016</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07832"">K07832</a>]
 (NS9) SOS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6655"">6655</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03099"">K03099</a>]
 (NS10) LZTR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8216"">8216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23330"">K23330</a>]
 (NS11) MRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22808"">22808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07831"">K07831</a>]
 (NS12) RRAS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22800"">22800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07830"">K07830</a>]
 (NS13) MAPK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5594"">5594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04371"">K04371</a>]
 (NS14) SPRED2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200734"">200734</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04703"">K04703</a>]",,,,"ソマトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02691"">D02691</a>]",,"ICD-11: LD2F.15
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009634"">D009634</a>
 OMIM: <a href=""https://www.omim.org/entry/163950"">163950</a> <a href=""https://www.omim.org/entry/609942"">609942</a> <a href=""https://www.omim.org/entry/610733"">610733</a> <a href=""https://www.omim.org/entry/611553"">611553</a> <a href=""https://www.omim.org/entry/613224"">613224</a> <a href=""https://www.omim.org/entry/613706"">613706</a> <a href=""https://www.omim.org/entry/615355"">615355</a> <a href=""https://www.omim.org/entry/616559"">616559</a> <a href=""https://www.omim.org/entry/616564"">616564</a> <a href=""https://www.omim.org/entry/618499"">618499</a> <a href=""https://www.omim.org/entry/618624"">618624</a> <a href=""https://www.omim.org/entry/619087"">619087</a> <a href=""https://www.omim.org/entry/619745"">619745</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21396583"">21396583</a>
 著者        Tartaglia M, Gelb BD, Zenker M
 タイトル      Noonan syndrome and clinically related disorders.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2010.09.002"">10.1016/j.beem.2010.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11704759"">11704759</a> (PTPN11)
 著者        Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD
 タイトル      Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
 雑誌        Nat Genet 29:465-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng772"">10.1038/ng772</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16474405"">16474405</a> (KRAS)
 著者        Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP
 タイトル      Germline KRAS mutations cause Noonan syndrome.
 雑誌        Nat Genet 38:331-6 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1748"">10.1038/ng1748</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17143285"">17143285</a> (SOS1)
 著者        Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS
 タイトル      Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
 雑誌        Nat Genet 39:70-4 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1926"">10.1038/ng1926</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17603483"">17603483</a> (RAF1)
 著者        Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD
 タイトル      Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 39:1007-12 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2073"">10.1038/ng2073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19966803"">19966803</a> (NRAS)
 著者        Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M
 タイトル      A restricted spectrum of NRAS mutations causes Noonan syndrome.
 雑誌        Nat Genet 42:27-9 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.497"">10.1038/ng.497</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19206169"">19206169</a> (BRAF)
 著者        Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M
 タイトル      Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
 雑誌        Hum Mutat 30:695-702 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20955"">10.1002/humu.20955</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23791108"">23791108</a> (RIT1)
 著者        Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
 タイトル      Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
 雑誌        Am J Hum Genet 93:173-80 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.05.021"">10.1016/j.ajhg.2013.05.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25795793"">25795793</a> (SOS2 <a href=""https://pubmed.ncbi.nlm.nih.gov/LZTR1)"">LZTR1)</a>
 著者        Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR
 タイトル      Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
 雑誌        J Med Genet 52:413-21 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103018"">10.1136/jmedgenet-2015-103018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28289718"">28289718</a> (MRAS)
 著者        Higgins EM, Bos JM, Mason-Suares H, Tester DJ, Ackerman JP, MacRae CA, Sol-Church K, Gripp KW, Urrutia R, Ackerman MJ
 タイトル      Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
 雑誌        JCI Insight 2:e91225 (2017)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.91225"">10.1172/jci.insight.91225</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31130282"">31130282</a> (RRAS2)
 著者        Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lissewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cave H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M
 タイトル      Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
 雑誌        Am J Hum Genet 104:1223-1232 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.04.013"">10.1016/j.ajhg.2019.04.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32721402"">32721402</a> (MAPK1)
 著者        Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernandez-Jaen A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lissewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Alvarez S, Martinez-Garcia M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M
 タイトル      Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
 雑誌        Am J Hum Genet 107:499-513 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.018"">10.1016/j.ajhg.2020.06.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34626534"">34626534</a> (SPRED2)
 著者        Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cave H, Zenker M, Tartaglia M
 タイトル      SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
 雑誌        Am J Hum Genet 108:2112-2129 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.09.007"">10.1016/j.ajhg.2021.09.007</a>"
H01739,多嚢胞性卵巣症候群,,,"Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by elevated androgen levels, menstrual irregularities, and/or small cysts on one or both ovaries. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Clinical signs of PCOS include elevated luteinizing hormone (LH) and gonadotropin-releasing hormone (GnRH) levels, whereas follicle-stimulating hormone (FSH) levels are muted or unchanged. As a result of the increase in GnRH, stimulation of the ovarian theca cells, in turn, produces more androgens. Risk factors for PCOS in adults includes insulin resistance (IR), type 2 diabetes, obesity, and cardiovascular disease. PCOS can be described as an oligogenic disorder in which the interaction of a number of genetic and environmental factors determine the heterogeneous, clinical, and biochemical phenotype. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology.",内分泌系疾患; 生殖系疾患,,,,,,"精製下垂体性性腺刺激ホルモン [DR:D06459]
 ホリトロピンアルファ [DR:D04429]",,"ICD-11: 5A80.1
 ICD-10: E28.2
 MeSH: D011085","PMID:24379699
 著者        Sirmans SM, Pate KA
 タイトル      Epidemiology, diagnosis, and management of polycystic ovary syndrome.
 雑誌        Clin Epidemiol 6:1-13 (2013)
 DOI:10.2147/CLEP.S37559
 PMID:23946629 (description, drug)
 著者        Ndefo UA, Eaton A, Green MR
 タイトル      Polycystic ovary syndrome: a review of treatment options with a focus on pharmacological approaches.
 雑誌        P T 38:336-55 (2013)
 PMID:24389146
 著者        Barthelmess EK, Naz RK
 タイトル      Polycystic ovary syndrome: current status and future perspective.
 雑誌        Front Biosci (Elite Ed) 6:104-19 (2014)
 DOI:10.2741/e695","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01739"">H01739</a>",多嚢胞性卵巣症候群,"Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by elevated androgen levels, menstrual irregularities, and/or small cysts on one or both ovaries. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Clinical signs of PCOS include elevated luteinizing hormone (LH) and gonadotropin-releasing hormone (GnRH) levels, whereas follicle-stimulating hormone (FSH) levels are muted or unchanged. As a result of the increase in GnRH, stimulation of the ovarian theca cells, in turn, produces more androgens. Risk factors for PCOS in adults includes insulin resistance (IR), type 2 diabetes, obesity, and cardiovascular disease. PCOS can be described as an oligogenic disorder in which the interaction of a number of genetic and environmental factors determine the heterogeneous, clinical, and biochemical phenotype. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology.",,,,,,"精製下垂体性性腺刺激ホルモン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06459"">D06459</a>]
 ホリトロピンアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04429"">D04429</a>]",,"ICD-11: 5A80.1
 ICD-10: E28.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011085"">D011085</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24379699"">24379699</a>
 著者        Sirmans SM, Pate KA
 タイトル      Epidemiology, diagnosis, and management of polycystic ovary syndrome.
 雑誌        Clin Epidemiol 6:1-13 (2013)
 DOI:<a href=""https://doi.org/10.2147/CLEP.S37559"">10.2147/CLEP.S37559</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23946629"">23946629</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Ndefo UA, Eaton A, Green MR
 タイトル      Polycystic ovary syndrome: a review of treatment options with a focus on pharmacological approaches.
 雑誌        P T 38:336-55 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24389146"">24389146</a>
 著者        Barthelmess EK, Naz RK
 タイトル      Polycystic ovary syndrome: current status and future perspective.
 雑誌        Front Biosci (Elite Ed) 6:104-19 (2014)
 DOI:<a href=""https://doi.org/10.2741/e695"">10.2741/e695</a>"
H01740,"巨大血小板性血小板減少症
 下位グループ    MYH9 異常症 (MATINS) [DS:H00233]
 ベルナール・スーリエ症候群 (BSSA)[DS:H00224]
 血小板型出血性疾患 (BDPLT) [DS:H01235]
 シトステロール血症 (STSL) [DS:H00152]",,,"Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported in several genes, involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier syndrome.",血液疾患,,"(MATINS) MYH9 [HSA:4627] [KO:K10352]
 (BSS) GP1BA [HSA:2811] [KO:K06261]
 (BSS) GP1BB [HSA:2812] [KO:K06262]
 (BSS) GP9 [HSA:2815] [KO:K06263]
 (BDPLT15) ACTN1 [HSA:87] [KO:K05699]
 (BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
 (BDPLT17) GFI1B [HSA:8328] [KO:K09223]
 (BDPLT19) PRKACG [HSA:5568] [KO:K04345]
 (BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
 (STSL1) ABCG8 [HSA:64241] [KO:K05684]
 (STSL2) ABCG5 [HSA:64240] [KO:K05683]
 FLNA [HSA:2316] [KO:K04437]
 GATA1 [HSA:2623] [KO:K09182]
 VWF [HSA:7450] [KO:K03900]
 DIAPH1 [HSA:1729] [KO:K05740]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.6
 MeSH: D013921
 OMIM: 155100 231200 153670 615193 187800 187900 616176 619271 210250 618666 300367 613554 124900","PMID:25944497 (MYH9, BSS)
 著者        Favier R, Raslova H
 タイトル      Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
 雑誌        Br J Haematol 170:626-39 (2015)
 DOI:10.1111/bjh.13478
 PMID:23434115 (BDPLT15)
 著者        Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
 タイトル      ACTN1 mutations cause congenital macrothrombocytopenia.
 雑誌        Am J Hum Genet 92:431-8 (2013)
 DOI:10.1016/j.ajhg.2013.01.015
 PMID:22102273 (BDPLT16_24)
 著者        Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P
 タイトル      Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the alphaIIbbeta3 integrin.
 雑誌        Semin Thromb Hemost 37:698-706 (2011)
 DOI:10.1055/s-0031-1291380
 PMID:25323684 (BDPLT19)
 著者        Landolt-Marticorena C, Kahr WH
 タイトル      Inherited macrothrombocytopenias on the rise.
 雑誌        Blood 124:2473-5 (2014)
 DOI:10.1182/blood-2014-08-592329
 PMID:24166850 (STSL1_2)
 著者        Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C
 タイトル      Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
 雑誌        Am J Hematol 89:320-4 (2014)
 DOI:10.1002/ajh.23619
 PMID:31471375 (FLNA)
 著者        Rosa JP, Raslova H, Bryckaert M
 タイトル      Filamin A: key actor in platelet biology.
 雑誌        Blood 134:1279-1288 (2019)
 DOI:10.1182/blood.2019000014
 PMID:11809723 (GATA1)
 著者        Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J, Van Geet C
 タイトル      Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.
 雑誌        Hum Mol Genet 11:147-52 (2002)
 DOI:10.1093/hmg/11.2.147
 PMID:19060241 (VWF)
 著者        Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon MC
 タイトル      The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.
 雑誌        Blood 113:3348-51 (2009)
 DOI:10.1182/blood-2008-06-165233
 PMID:26912466 (DIAPH1)
 著者        Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
 タイトル      A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
 雑誌        Blood 127:2903-14 (2016)
 DOI:10.1182/blood-2015-10-675629","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>","巨大血小板性血小板減少症
 下位グループ    MYH9 異常症 (MATINS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>]
 ベルナール・スーリエ症候群 (BSSA)[DS:<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00224]"">H00224]</a>
 血小板型出血性疾患 (BDPLT) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01235"">H01235</a>]
 シトステロール血症 (STSL) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00152"">H00152</a>]","Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported in several genes, involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier syndrome.",,"(MATINS) MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]
 (BSS) GP1BA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2811"">2811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06261"">K06261</a>]
 (BSS) GP1BB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2812"">2812</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06262"">K06262</a>]
 (BSS) GP9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2815"">2815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06263"">K06263</a>]
 (BDPLT15) ACTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:87"">87</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05699"">K05699</a>]
 (BDPLT16) ITGA2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3674"">3674</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06476"">K06476</a>]
 (BDPLT17) GFI1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8328"">8328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09223"">K09223</a>]
 (BDPLT19) PRKACG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5568"">5568</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]
 (BDPLT24) ITGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3690"">3690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06493"">K06493</a>]
 (STSL1) ABCG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64241"">64241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05684"">K05684</a>]
 (STSL2) ABCG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64240"">64240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05683"">K05683</a>]
 FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 GATA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2623"">2623</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09182"">K09182</a>]
 VWF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7450"">7450</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03900"">K03900</a>]
 DIAPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1729"">1729</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05740"">K05740</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013921"">D013921</a>
 OMIM: <a href=""https://www.omim.org/entry/155100"">155100</a> <a href=""https://www.omim.org/entry/231200"">231200</a> <a href=""https://www.omim.org/entry/153670"">153670</a> <a href=""https://www.omim.org/entry/615193"">615193</a> <a href=""https://www.omim.org/entry/187800"">187800</a> <a href=""https://www.omim.org/entry/187900"">187900</a> <a href=""https://www.omim.org/entry/616176"">616176</a> <a href=""https://www.omim.org/entry/619271"">619271</a> <a href=""https://www.omim.org/entry/210250"">210250</a> <a href=""https://www.omim.org/entry/618666"">618666</a> <a href=""https://www.omim.org/entry/300367"">300367</a> <a href=""https://www.omim.org/entry/613554"">613554</a> <a href=""https://www.omim.org/entry/124900"">124900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25944497"">25944497</a> (MYH9, <a href=""https://pubmed.ncbi.nlm.nih.gov/BSS)"">BSS)</a>
 著者        Favier R, Raslova H
 タイトル      Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
 雑誌        Br J Haematol 170:626-39 (2015)
 DOI:<a href=""https://doi.org/10.1111/bjh.13478"">10.1111/bjh.13478</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23434115"">23434115</a> (BDPLT15)
 著者        Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
 タイトル      ACTN1 mutations cause congenital macrothrombocytopenia.
 雑誌        Am J Hum Genet 92:431-8 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.015"">10.1016/j.ajhg.2013.01.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22102273"">22102273</a> (BDPLT16_24)
 著者        Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P
 タイトル      Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the alphaIIbbeta3 integrin.
 雑誌        Semin Thromb Hemost 37:698-706 (2011)
 DOI:<a href=""https://doi.org/10.1055/s-0031-1291380"">10.1055/s-0031-1291380</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25323684"">25323684</a> (BDPLT19)
 著者        Landolt-Marticorena C, Kahr WH
 タイトル      Inherited macrothrombocytopenias on the rise.
 雑誌        Blood 124:2473-5 (2014)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-08-592329"">10.1182/blood-2014-08-592329</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24166850"">24166850</a> (STSL1_2)
 著者        Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C
 タイトル      Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
 雑誌        Am J Hematol 89:320-4 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajh.23619"">10.1002/ajh.23619</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31471375"">31471375</a> (FLNA)
 著者        Rosa JP, Raslova H, Bryckaert M
 タイトル      Filamin A: key actor in platelet biology.
 雑誌        Blood 134:1279-1288 (2019)
 DOI:<a href=""https://doi.org/10.1182/blood.2019000014"">10.1182/blood.2019000014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11809723"">11809723</a> (GATA1)
 著者        Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J, Van Geet C
 タイトル      Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.
 雑誌        Hum Mol Genet 11:147-52 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.2.147"">10.1093/hmg/11.2.147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19060241"">19060241</a> (VWF)
 著者        Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon MC
 タイトル      The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.
 雑誌        Blood 113:3348-51 (2009)
 DOI:<a href=""https://doi.org/10.1182/blood-2008-06-165233"">10.1182/blood-2008-06-165233</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26912466"">26912466</a> (DIAPH1)
 著者        Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
 タイトル      A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
 雑誌        Blood 127:2903-14 (2016)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-10-675629"">10.1182/blood-2015-10-675629</a>"
H01741,"中條-西村症候群
 上位グループ    プロテアソーム関連自己炎症性症候群 [DS:H02532]",,,"Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory manifestations. In 2011, several studies showed that a number of disorders referred to as joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture, auricular and nasal chondritis, and calcification of the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination with anti IL-1, anti IL-6 or anti-TNF treatments.",免疫系疾患,,PSMB8 [HSA:5696] [KO:K02740],,,,,,"ICD-11: LD27.6
 ICD-10: D89.8
 OMIM: 256040","PMID:23711932
 著者        Almeida de Jesus A, Goldbach-Mansky R
 タイトル      Monogenic autoinflammatory diseases: concept and clinical manifestations.
 雑誌        Clin Immunol 147:155-74 (2013)
 DOI:10.1016/j.clim.2013.03.016
 PMID:24131530
 著者        Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I
 タイトル      The expanding spectrum of rare monogenic autoinflammatory diseases.
 雑誌        Orphanet J Rare Dis 8:162 (2013)
 DOI:10.1186/1750-1172-8-162
 PMID:25017460
 著者        Davila-Seijo P, Hernandez-Martin A, Torrelo A
 タイトル      Autoinflammatory syndromes for the dermatologist.
 雑誌        Clin Dermatol 32:488-501 (2014)
 DOI:10.1016/j.clindermatol.2014.02.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01741"">H01741</a>","中條-西村症候群
 上位グループ    プロテアソーム関連自己炎症性症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02532"">H02532</a>]","Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory manifestations. In 2011, several studies showed that a number of disorders referred to as joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture, auricular and nasal chondritis, and calcification of the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination with anti IL-1, anti IL-6 or anti-TNF treatments.",,"PSMB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5696"">5696</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02740"">K02740</a>]",,,,,,"ICD-11: LD27.6
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/256040"">256040</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23711932"">23711932</a>
 著者        Almeida de Jesus A, Goldbach-Mansky R
 タイトル      Monogenic autoinflammatory diseases: concept and clinical manifestations.
 雑誌        Clin Immunol 147:155-74 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2013.03.016"">10.1016/j.clim.2013.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24131530"">24131530</a>
 著者        Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I
 タイトル      The expanding spectrum of rare monogenic autoinflammatory diseases.
 雑誌        Orphanet J Rare Dis 8:162 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-162"">10.1186/1750-1172-8-162</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25017460"">25017460</a>
 著者        Davila-Seijo P, Hernandez-Martin A, Torrelo A
 タイトル      Autoinflammatory syndromes for the dermatologist.
 雑誌        Clin Dermatol 32:488-501 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2014.02.004"">10.1016/j.clindermatol.2014.02.004</a>"
H01742,冠動脈疾患,,,"Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the vessel wall. A variety of environmental and genetic risk factors are associated with CAD, including hypercholesterolemia, hypertension, obesity, diabetes, and a family history of early CAD. It has been reported that an autosomal dominant form of CAD is caused by the mutation in transcription factor MEF2A. A missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, has also been identified.",脈管疾患,,"(ADCAD1) MEF2A [HSA:4205] [KO:K09260]
 (ADCAD2) LRP6 [HSA:4040] [KO:K03068]
 (CHDS1) CX3CR1 [HSA:1524] [KO:K04192]
 (CHDS5) KALRN [HSA:8997] [KO:K15048]
 (CHDS6) MMP3 [HSA:4314] [KO:K01394]
 (CHDS7) CD36 [HSA:948] [KO:K06259]",,,,,,"ICD-11: BA80
 ICD-10: I25.1
 MeSH: D003324
 OMIM: 608320 610947 607339 608901 614466 610938","PMID:14657507
 著者        Olson EN
 タイトル      Coronary artery disease and the MEF2A transcription factor.
 雑誌        Sci Aging Knowledge Environ 2003:pe33 (2003)
 DOI:10.1126/sageke.2003.48.pe33
 PMID:26044129
 著者        Grover MP, Ballouz S, Mohanasundaram KA, George RA, Goscinski A, Crowley TM, Sherman CD, Wouters MA
 タイトル      Novel therapeutics for coronary artery disease from genome-wide association study data.
 雑誌        BMC Med Genomics 8 Suppl 2:S1 (2015)
 DOI:10.1186/1755-8794-8-S2-S1
 PMID:14645853 (MEF2A)
 著者        Wang L, Fan C, Topol SE, Topol EJ, Wang Q
 タイトル      Mutation of MEF2A in an inherited disorder with features of coronary artery disease.
 雑誌        Science 302:1578-81 (2003)
 DOI:10.1126/science.1088477
 PMID:17332414 (LRP6)
 著者        Mani A, Radhakrishnan J, Wang H, Mani A, Mani MA, Nelson-Williams C, Carew KS, Mane S, Najmabadi H, Wu D, Lifton RP
 タイトル      LRP6 mutation in a family with early coronary disease and metabolic risk factors.
 雑誌        Science 315:1278-82 (2007)
 DOI:10.1126/science.1136370
 PMID:11264153 (CX3CR1)
 著者        Moatti D, Faure S, Fumeron F, Amara Mel-W, Seknadji P, McDermott DH, Debre P, Aumont MC, Murphy PM, de Prost D, Combadiere C
 タイトル      Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease.
 雑誌        Blood 97:1925-8 (2001)
 DOI:10.1182/blood.v97.7.1925
 PMID:17357071 (KALRN)
 著者        Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM
 タイトル      Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
 雑誌        Am J Hum Genet 80:650-63 (2007)
 DOI:10.1086/512981
 PMID:8662692 (MMP3)
 著者        Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM
 タイトル      Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression.
 雑誌        J Biol Chem 271:13055-60 (1996)
 DOI:10.1074/jbc.271.22.13055
 PMID:15282206 (CD36)
 著者        Ma X, Bacci S, Mlynarski W, Gottardo L, Soccio T, Menzaghi C, Iori E, Lager RA, Shroff AR, Gervino EV, Nesto RW, Johnstone MT, Abumrad NA, Avogaro A, Trischitta V, Doria A
 タイトル      A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.
 雑誌        Hum Mol Genet 13:2197-205 (2004)
 DOI:10.1093/hmg/ddh233","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01742"">H01742</a>",冠動脈疾患,"Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the vessel wall. A variety of environmental and genetic risk factors are associated with CAD, including hypercholesterolemia, hypertension, obesity, diabetes, and a family history of early CAD. It has been reported that an autosomal dominant form of CAD is caused by the mutation in transcription factor MEF2A. A missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, has also been identified.",,"(ADCAD1) MEF2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4205"">4205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09260"">K09260</a>]
 (ADCAD2) LRP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4040"">4040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]
 (CHDS1) CX3CR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1524"">1524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04192"">K04192</a>]
 (CHDS5) KALRN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8997"">8997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15048"">K15048</a>]
 (CHDS6) MMP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4314"">4314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01394"">K01394</a>]
 (CHDS7) CD36 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:948"">948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06259"">K06259</a>]",,,,,,"ICD-11: BA80
 ICD-10: I25.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003324"">D003324</a>
 OMIM: <a href=""https://www.omim.org/entry/608320"">608320</a> <a href=""https://www.omim.org/entry/610947"">610947</a> <a href=""https://www.omim.org/entry/607339"">607339</a> <a href=""https://www.omim.org/entry/608901"">608901</a> <a href=""https://www.omim.org/entry/614466"">614466</a> <a href=""https://www.omim.org/entry/610938"">610938</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14657507"">14657507</a>
 著者        Olson EN
 タイトル      Coronary artery disease and the MEF2A transcription factor.
 雑誌        Sci Aging Knowledge Environ 2003:pe33 (2003)
 DOI:<a href=""https://doi.org/10.1126/sageke.2003.48.pe33"">10.1126/sageke.2003.48.pe33</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26044129"">26044129</a>
 著者        Grover MP, Ballouz S, Mohanasundaram KA, George RA, Goscinski A, Crowley TM, Sherman CD, Wouters MA
 タイトル      Novel therapeutics for coronary artery disease from genome-wide association study data.
 雑誌        BMC Med Genomics 8 Suppl 2:S1 (2015)
 DOI:<a href=""https://doi.org/10.1186/1755-8794-8-S2-S1"">10.1186/1755-8794-8-S2-S1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14645853"">14645853</a> (MEF2A)
 著者        Wang L, Fan C, Topol SE, Topol EJ, Wang Q
 タイトル      Mutation of MEF2A in an inherited disorder with features of coronary artery disease.
 雑誌        Science 302:1578-81 (2003)
 DOI:<a href=""https://doi.org/10.1126/science.1088477"">10.1126/science.1088477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17332414"">17332414</a> (LRP6)
 著者        Mani A, Radhakrishnan J, Wang H, Mani A, Mani MA, Nelson-Williams C, Carew KS, Mane S, Najmabadi H, Wu D, Lifton RP
 タイトル      LRP6 mutation in a family with early coronary disease and metabolic risk factors.
 雑誌        Science 315:1278-82 (2007)
 DOI:<a href=""https://doi.org/10.1126/science.1136370"">10.1126/science.1136370</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11264153"">11264153</a> (CX3CR1)
 著者        Moatti D, Faure S, Fumeron F, Amara Mel-W, Seknadji P, McDermott DH, Debre P, Aumont MC, Murphy PM, de Prost D, Combadiere C
 タイトル      Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease.
 雑誌        Blood 97:1925-8 (2001)
 DOI:<a href=""https://doi.org/10.1182/blood.v97.7.1925"">10.1182/blood.v97.7.1925</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17357071"">17357071</a> (KALRN)
 著者        Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM
 タイトル      Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
 雑誌        Am J Hum Genet 80:650-63 (2007)
 DOI:<a href=""https://doi.org/10.1086/512981"">10.1086/512981</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8662692"">8662692</a> (MMP3)
 著者        Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM
 タイトル      Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression.
 雑誌        J Biol Chem 271:13055-60 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.22.13055"">10.1074/jbc.271.22.13055</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15282206"">15282206</a> (CD36)
 著者        Ma X, Bacci S, Mlynarski W, Gottardo L, Soccio T, Menzaghi C, Iori E, Lager RA, Shroff AR, Gervino EV, Nesto RW, Johnstone MT, Abumrad NA, Avogaro A, Trischitta V, Doria A
 タイトル      A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.
 雑誌        Hum Mol Genet 13:2197-205 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh233"">10.1093/hmg/ddh233</a>"
H01743,自己炎症合併フォスフォリパーゼＣγ2 関連抗体欠損・免疫異常症,,,"Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.",免疫系疾患,,PLCG2 [HSA:5336] [KO:K05859],,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: 614878","PMID:23711932
 著者        Almeida de Jesus A, Goldbach-Mansky R
 タイトル      Monogenic autoinflammatory diseases: concept and clinical manifestations.
 雑誌        Clin Immunol 147:155-74 (2013)
 DOI:10.1016/j.clim.2013.03.016
 PMID:26206677
 著者        Milner JD
 タイトル      PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.
 雑誌        J Clin Immunol 35:527-30 (2015)
 DOI:10.1007/s10875-015-0177-x
 PMID:23887241
 著者        Milner JD, Holland SM
 タイトル      The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.
 雑誌        Nat Rev Immunol 13:635-48 (2013)
 DOI:10.1038/nri3493
 PMID:23000145
 著者        Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I
 タイトル      A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
 雑誌        Am J Hum Genet 91:713-20 (2012)
 DOI:10.1016/j.ajhg.2012.08.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01743"">H01743</a>",自己炎症合併フォスフォリパーゼＣγ2 関連抗体欠損・免疫異常症,"Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.",,"PLCG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5336"">5336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05859"">K05859</a>]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/614878"">614878</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23711932"">23711932</a>
 著者        Almeida de Jesus A, Goldbach-Mansky R
 タイトル      Monogenic autoinflammatory diseases: concept and clinical manifestations.
 雑誌        Clin Immunol 147:155-74 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.clim.2013.03.016"">10.1016/j.clim.2013.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26206677"">26206677</a>
 著者        Milner JD
 タイトル      PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.
 雑誌        J Clin Immunol 35:527-30 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10875-015-0177-x"">10.1007/s10875-015-0177-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23887241"">23887241</a>
 著者        Milner JD, Holland SM
 タイトル      The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.
 雑誌        Nat Rev Immunol 13:635-48 (2013)
 DOI:<a href=""https://doi.org/10.1038/nri3493"">10.1038/nri3493</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000145"">23000145</a>
 著者        Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I
 タイトル      A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
 雑誌        Am J Hum Genet 91:713-20 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.006"">10.1016/j.ajhg.2012.08.006</a>"
H01744,"ポリグルコサン小体ミオパチー
 下位グループ    HOIL-1 欠損症",,,"Polyglucosan body myopathy (PGBM) is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.",免疫系疾患,,"(PGBM1) RBCK1 [HSA:10616] [KO:K10630]
 (PGBM2) GYG1 [HSA:2992] [KO:K00750]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: 615895 616199","PMID:23104095
 著者        Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israel L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debre M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israel A, Casanova JL, Picard C
 タイトル      Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
 雑誌        Nat Immunol 13:1178-86 (2012)
 DOI:10.1038/ni.2457
 PMID:23798481 (PGBM1)
 著者        Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Davila Lopez M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A
 タイトル      Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
 雑誌        Ann Neurol 74:914-9 (2013)
 DOI:10.1002/ana.23963
 PMID:23160206 (PGBM1)
 著者        Ombrello MJ, Kastner DL, Milner JD
 タイトル      HOIL and water: the two faces of HOIL-1 deficiency.
 雑誌        Nat Immunol 13:1133-5 (2012)
 DOI:10.1038/ni.2471
 PMID:25272951 (PGBM2)
 著者        Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A
 タイトル      A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
 雑誌        Ann Neurol 76:891-8 (2014)
 DOI:10.1002/ana.24284","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01744"">H01744</a>","ポリグルコサン小体ミオパチー
 下位グループ    HOIL-1 欠損症","Polyglucosan body myopathy (PGBM) is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.",,"(PGBM1) RBCK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10616"">10616</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10630"">K10630</a>]
 (PGBM2) GYG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2992"">2992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00750"">K00750</a>]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/615895"">615895</a> <a href=""https://www.omim.org/entry/616199"">616199</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23104095"">23104095</a>
 著者        Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israel L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debre M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israel A, Casanova JL, Picard C
 タイトル      Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
 雑誌        Nat Immunol 13:1178-86 (2012)
 DOI:<a href=""https://doi.org/10.1038/ni.2457"">10.1038/ni.2457</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23798481"">23798481</a> (PGBM1)
 著者        Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Davila Lopez M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A
 タイトル      Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
 雑誌        Ann Neurol 74:914-9 (2013)
 DOI:<a href=""https://doi.org/10.1002/ana.23963"">10.1002/ana.23963</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23160206"">23160206</a> (PGBM1)
 著者        Ombrello MJ, Kastner DL, Milner JD
 タイトル      HOIL and water: the two faces of HOIL-1 deficiency.
 雑誌        Nat Immunol 13:1133-5 (2012)
 DOI:<a href=""https://doi.org/10.1038/ni.2471"">10.1038/ni.2471</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25272951"">25272951</a> (PGBM2)
 著者        Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A
 タイトル      A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
 雑誌        Ann Neurol 76:891-8 (2014)
 DOI:<a href=""https://doi.org/10.1002/ana.24284"">10.1002/ana.24284</a>"
H01745,"CFC 症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]",,,"Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead, down-slanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears. CFC can be caused by mutations in BRAF, KRAS, MEK1, and MEK2, encoding components of the RAS-MAPK pathway.",先天奇形,,"(CFC1) BRAF [HSA:673] [KO:K04365]
 (CFC2) KRAS [HSA:3845] [KO:K07827]
 (CFC3) MAP2K1 [HSA:5604] [KO:K04368]
 (CFC4) MAP2K2 [HSA:5605] [KO:K04369]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535579
 OMIM: 115150 615278 615279 615280","PMID:16474404
 著者        Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y
 タイトル      Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
 雑誌        Nat Genet 38:294-6 (2006)
 DOI:10.1038/ng1749
 PMID:18042262
 著者        Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
 タイトル      Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
 雑誌        Clin Genet 73:62-70 (2008)
 DOI:10.1111/j.1399-0004.2007.00931.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01745"">H01745</a>","CFC 症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead, down-slanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears. CFC can be caused by mutations in BRAF, KRAS, MEK1, and MEK2, encoding components of the RAS-MAPK pathway.",,"(CFC1) BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 (CFC2) KRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 (CFC3) MAP2K1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5604"">5604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04368"">K04368</a>]
 (CFC4) MAP2K2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5605"">5605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04369"">K04369</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535579"">C535579</a>
 OMIM: <a href=""https://www.omim.org/entry/115150"">115150</a> <a href=""https://www.omim.org/entry/615278"">615278</a> <a href=""https://www.omim.org/entry/615279"">615279</a> <a href=""https://www.omim.org/entry/615280"">615280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16474404"">16474404</a>
 著者        Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y
 タイトル      Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
 雑誌        Nat Genet 38:294-6 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1749"">10.1038/ng1749</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18042262"">18042262</a>
 著者        Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
 タイトル      Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
 雑誌        Clin Genet 73:62-70 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00931.x"">10.1111/j.1399-0004.2007.00931.x</a>"
H01746,乳児発症性 STING 関連血管炎,,,"STING (stimulator of interferon genes)-associated basculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene confer constitutive activation of STING and hypersensitivity to ligand stimulation, resulting in chronic activation of the STING-interferon pathway. Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.",免疫系疾患,,TMEM173 [HSA:340061] [KO:K12654],,,,,,"ICD-10: M35.8
 OMIM: 615934","PMID:27983684
 著者        Tarantino G, Esposito S, Andreozzi L, Bracci B, D'Errico F, Rigante D
 タイトル      Lung Involvement in Children with Hereditary Autoinflammatory Disorders.
 雑誌        Int J Mol Sci 17:E2111 (2016)
 DOI:10.3390/ijms17122111
 PMID:25029335
 著者        Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R
 タイトル      Activated STING in a vascular and pulmonary syndrome.
 雑誌        N Engl J Med 371:507-18 (2014)
 DOI:10.1056/NEJMoa1312625
 PMID:25401470
 著者        Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, Goudin N, Fremond ML, Nitschke P, Molina TJ, Blanche S, Picard C, Rice GI, Crow YJ, Manel N, Fischer A, Bader-Meunier B, Rieux-Laucat F
 タイトル      Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
 雑誌        J Clin Invest 124:5516-20 (2014)
 DOI:10.1172/JCI79100","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01746"">H01746</a>",乳児発症性 STING 関連血管炎,"STING (stimulator of interferon genes)-associated basculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene confer constitutive activation of STING and hypersensitivity to ligand stimulation, resulting in chronic activation of the STING-interferon pathway. Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.",,"TMEM173 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340061"">340061</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12654"">K12654</a>]",,,,,,"ICD-10: M35.8
 OMIM: <a href=""https://www.omim.org/entry/615934"">615934</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27983684"">27983684</a>
 著者        Tarantino G, Esposito S, Andreozzi L, Bracci B, D'Errico F, Rigante D
 タイトル      Lung Involvement in Children with Hereditary Autoinflammatory Disorders.
 雑誌        Int J Mol Sci 17:E2111 (2016)
 DOI:<a href=""https://doi.org/10.3390/ijms17122111"">10.3390/ijms17122111</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25029335"">25029335</a>
 著者        Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R
 タイトル      Activated STING in a vascular and pulmonary syndrome.
 雑誌        N Engl J Med 371:507-18 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1312625"">10.1056/NEJMoa1312625</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25401470"">25401470</a>
 著者        Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, Goudin N, Fremond ML, Nitschke P, Molina TJ, Blanche S, Picard C, Rice GI, Crow YJ, Manel N, Fischer A, Bader-Meunier B, Rieux-Laucat F
 タイトル      Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
 雑誌        J Clin Invest 124:5516-20 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI79100"">10.1172/JCI79100</a>"
H01747,"コステロ症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]",,,"Costello syndrome (CS) is a rare multiple congenital abnormality syndrome. Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive, congenital heart defect, and mild to severe mental retardation. Hyperpigmentation and papillomas can also be present. They have an increased risk of malignancy. The majority of patients show a mutation in HRAS.",先天奇形,,HRAS [HSA:3265] [KO:K02833],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: D056685
 OMIM: 218040","PMID:18042262
 著者        Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
 タイトル      Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
 雑誌        Clin Genet 73:62-70 (2008)
 DOI:10.1111/j.1399-0004.2007.00931.x
 PMID:16443854
 著者        Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G
 タイトル      Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
 雑誌        J Med Genet 43:401-5 (2006)
 DOI:10.1136/jmg.2005.040352","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01747"">H01747</a>","コステロ症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","Costello syndrome (CS) is a rare multiple congenital abnormality syndrome. Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive, congenital heart defect, and mild to severe mental retardation. Hyperpigmentation and papillomas can also be present. They have an increased risk of malignancy. The majority of patients show a mutation in HRAS.",,"HRAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3265"">3265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02833"">K02833</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056685"">D056685</a>
 OMIM: <a href=""https://www.omim.org/entry/218040"">218040</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18042262"">18042262</a>
 著者        Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
 タイトル      Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
 雑誌        Clin Genet 73:62-70 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00931.x"">10.1111/j.1399-0004.2007.00931.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16443854"">16443854</a>
 著者        Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G
 タイトル      Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
 雑誌        J Med Genet 43:401-5 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.040352"">10.1136/jmg.2005.040352</a>"
H01748,Autoinflammation with infantile enterocolitis,,,"Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.",免疫系疾患,,NLRC4 [HSA:58484] [KO:K12805],,,,,,"ICD-11: 4A6Y
 ICD-10: D89.8
 OMIM: 616050","PMID:25217959
 著者        Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R
 タイトル      An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
 雑誌        Nat Genet 46:1140-6 (2014)
 DOI:10.1038/ng.3089
 PMID:25217960
 著者        Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP
 タイトル      Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
 雑誌        Nat Genet 46:1135-9 (2014)
 DOI:10.1038/ng.3066","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01748"">H01748</a>",Autoinflammation with infantile enterocolitis,"Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.",,"NLRC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58484"">58484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12805"">K12805</a>]",,,,,,"ICD-11: 4A6Y
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/616050"">616050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25217959"">25217959</a>
 著者        Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R
 タイトル      An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
 雑誌        Nat Genet 46:1140-6 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3089"">10.1038/ng.3089</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25217960"">25217960</a>
 著者        Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP
 タイトル      Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
 雑誌        Nat Genet 46:1135-9 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3066"">10.1038/ng.3066</a>"
H01749,"軟骨無形成症
 上位グループ    FGFR3関連骨異形成症 [DS:H00505]",,,"Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features. Newborn infants with achondroplasia typically present with disproportionate shortening of the limbs, a long and narrow trunk, a large head with frontal bossing and midface retrusion. This disease is caused by mutations of the transmembrane receptor FGFR3, an important regulator of bone growth. It is inherited in an autosomal dominant manner, but in the majority of cases it results from de novo mutations. The most common complications of achondroplasia are medullary and radicular compressions due to spinal stenosis and deformities of the lower limbs. Most individuals with achondroplasia have normal intelligence.",先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,"ソマトロピン [DR:D02691]
 ボソリチド [DR:D11190]",,"ICD-11: LD24.00
 ICD-10: Q77.4
 MeSH: D000130
 OMIM: 100800","PMID:22559284
 著者        Laederich MB, Horton WA
 タイトル      FGFR3 targeting strategies for achondroplasia.
 雑誌        Expert Rev Mol Med 14:e11 (2012)
 DOI:10.1017/erm.2012.4
 PMID:17950653
 著者        Richette P, Bardin T, Stheneur C
 タイトル      Achondroplasia: from genotype to phenotype.
 雑誌        Joint Bone Spine 75:125-30 (2008)
 DOI:10.1016/j.jbspin.2007.06.007
 PMID:23200862
 著者        Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L
 タイトル      Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
 雑誌        Am J Hum Genet 91:1108-14 (2012)
 DOI:10.1016/j.ajhg.2012.10.014
 PMID:25231866
 著者        Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, Okada M, Fujita K, Sawai H, Ikegawa S, Tsumaki N
 タイトル      Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
 雑誌        Nature 513:507-11 (2014)
 DOI:10.1038/nature13775","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01749"">H01749</a>","軟骨無形成症
 上位グループ    FGFR3関連骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>]","Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features. Newborn infants with achondroplasia typically present with disproportionate shortening of the limbs, a long and narrow trunk, a large head with frontal bossing and midface retrusion. This disease is caused by mutations of the transmembrane receptor FGFR3, an important regulator of bone growth. It is inherited in an autosomal dominant manner, but in the majority of cases it results from de novo mutations. The most common complications of achondroplasia are medullary and radicular compressions due to spinal stenosis and deformities of the lower limbs. Most individuals with achondroplasia have normal intelligence.",,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,"ソマトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02691"">D02691</a>]
 ボソリチド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11190"">D11190</a>]",,"ICD-11: LD24.00
 ICD-10: Q77.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000130"">D000130</a>
 OMIM: <a href=""https://www.omim.org/entry/100800"">100800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22559284"">22559284</a>
 著者        Laederich MB, Horton WA
 タイトル      FGFR3 targeting strategies for achondroplasia.
 雑誌        Expert Rev Mol Med 14:e11 (2012)
 DOI:<a href=""https://doi.org/10.1017/erm.2012.4"">10.1017/erm.2012.4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17950653"">17950653</a>
 著者        Richette P, Bardin T, Stheneur C
 タイトル      Achondroplasia: from genotype to phenotype.
 雑誌        Joint Bone Spine 75:125-30 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jbspin.2007.06.007"">10.1016/j.jbspin.2007.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23200862"">23200862</a>
 著者        Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L
 タイトル      Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
 雑誌        Am J Hum Genet 91:1108-14 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.014"">10.1016/j.ajhg.2012.10.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25231866"">25231866</a>
 著者        Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, Okada M, Fujita K, Sawai H, Ikegawa S, Tsumaki N
 タイトル      Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
 雑誌        Nature 513:507-11 (2014)
 DOI:<a href=""https://doi.org/10.1038/nature13775"">10.1038/nature13775</a>"
H01750,"タナトフォリック骨異形成症
 上位グループ    FGFR3関連骨異形成症 [DS:H00505]",,,"Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia syndromes. Two types of TD have been described. Type I TD (TDI) is associated with curved and short femurs. The shortness of the bones in type II TD (TDII) is not as significant as in TDI. TDII is characterized by straight femurs and cloverleaf skull deformity. Other features common to type I and type II include short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Both TDI and TDII are caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Its incidence is 1 in 20 000 to 50 000 births and it is an autosomal dominant condition. The mutation in most TD cases is de novo.",先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,,"TDI is known to arise because of five different mutations, all involving the substitution of an amino acid with a cysteine in FGFR3: Arg248Cys, Ser249Cys, Gly370Cys, Ser371Cys, and Tyr373Cys.
 See also H00505 FGFR3-related short limb skeletal dysplasias.","ICD-11: LD24.02
 ICD-10: Q77.1
 MeSH: D013796
 OMIM: 187600 187601","PMID:20301540
 著者        Karczeski B, Cutting GR
 タイトル      Thanatophoric Dysplasia
 雑誌        GeneReviews (1993)
 PMID:19449430
 著者        Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L
 タイトル      Thanatophoric dysplasia caused by double missense FGFR3 mutations.
 雑誌        Am J Med Genet A 149A:1296-301 (2009)
 DOI:10.1002/ajmg.a.32880
 PMID:25606676
 著者        Del Piccolo N, Placone J, Hristova K
 タイトル      Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
 雑誌        Biophys J 108:272-8 (2015)
 DOI:10.1016/j.bpj.2014.11.3460
 PMID:25800480
 著者        Gulasi S, Atici A, Celik Y
 タイトル      A case of thanatophoric dysplasia type 2: a novel mutation.
 雑誌        J Clin Res Pediatr Endocrinol 7:73-6 (2015)
 DOI:10.4274/jcrpe.1703","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01750"">H01750</a>","タナトフォリック骨異形成症
 上位グループ    FGFR3関連骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>]","Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia syndromes. Two types of TD have been described. Type I TD (TDI) is associated with curved and short femurs. The shortness of the bones in type II TD (TDII) is not as significant as in TDI. TDII is characterized by straight femurs and cloverleaf skull deformity. Other features common to type I and type II include short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Both TDI and TDII are caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Its incidence is 1 in 20 000 to 50 000 births and it is an autosomal dominant condition. The mutation in most TD cases is de novo.",,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,"TDI is known to arise because of five different mutations, all involving the substitution of an amino acid with a cysteine in FGFR3: Arg248Cys, Ser249Cys, Gly370Cys, Ser371Cys, and Tyr373Cys.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a> FGFR3-related short limb skeletal dysplasias.","ICD-11: LD24.02
 ICD-10: Q77.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013796"">D013796</a>
 OMIM: <a href=""https://www.omim.org/entry/187600"">187600</a> <a href=""https://www.omim.org/entry/187601"">187601</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301540"">20301540</a>
 著者        Karczeski B, Cutting GR
 タイトル      Thanatophoric Dysplasia
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19449430"">19449430</a>
 著者        Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L
 タイトル      Thanatophoric dysplasia caused by double missense FGFR3 mutations.
 雑誌        Am J Med Genet A 149A:1296-301 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32880"">10.1002/ajmg.a.32880</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25606676"">25606676</a>
 著者        Del Piccolo N, Placone J, Hristova K
 タイトル      Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
 雑誌        Biophys J 108:272-8 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.bpj.2014.11.3460"">10.1016/j.bpj.2014.11.3460</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25800480"">25800480</a>
 著者        Gulasi S, Atici A, Celik Y
 タイトル      A case of thanatophoric dysplasia type 2: a novel mutation.
 雑誌        J Clin Res Pediatr Endocrinol 7:73-6 (2015)
 DOI:<a href=""https://doi.org/10.4274/jcrpe.1703"">10.4274/jcrpe.1703</a>"
H01751,ウィーバー症候群,,,"Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.",先天奇形,,EZH2 [HSA:2146] [KO:K11430],,,,,See also H00718 Sotos syndrome.,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C536687
 OMIM: 277590","PMID:24214728
 著者        Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N
 タイトル      Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
 雑誌        Am J Med Genet A 161A:2972-80 (2013)
 DOI:10.1002/ajmg.a.36229
 PMID:23865096
 著者        Tatton-Brown K, Rahman N
 タイトル      EZH2-Related Overgrowth
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01751"">H01751</a>",ウィーバー症候群,"Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.",,"EZH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00718"">H00718</a> Sotos syndrome.","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536687"">C536687</a>
 OMIM: <a href=""https://www.omim.org/entry/277590"">277590</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24214728"">24214728</a>
 著者        Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N
 タイトル      Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
 雑誌        Am J Med Genet A 161A:2972-80 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36229"">10.1002/ajmg.a.36229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23865096"">23865096</a>
 著者        Tatton-Brown K, Rahman N
 タイトル      EZH2-Related Overgrowth
 雑誌        GeneReviews (1993)"
H01752,"ATR-X 症候群;
 X連鎖アルファサラセミア精神遅滞症候群
 上位グループ    サラセミア [DS:H00228]",,,"X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic facial appearance, alpha thalassaemia, genital anomalies, skeletal abnormalities, and characteristic posture and/or behavior. ATR-X syndrome is caused by a mutation in the ATRX gene, a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres.",先天奇形,,ATRX [HSA:546] [KO:K10779],,,,,"The X-linked mental retardation-hypotonic facies syndrome (MRXHF1) is also caused by mutation in the ATRX gene. MRXHF1 comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. See also H00228 Thalassemia and H00577 Syndromic X-linked mental retardation.","ICD-11: LD90.Y
 ICD-10: Q87.0
 MeSH: C538258
 OMIM: 301040","PMID:16100724
 著者        Wada T, Sugie H, Fukushima Y, Saitoh S
 タイトル      Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
 雑誌        Am J Med Genet A 138:18-20 (2005)
 DOI:10.1002/ajmg.a.30901
 PMID:17579672
 著者        Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K
 タイトル      Partial duplications of the ATRX gene cause the ATR-X syndrome.
 雑誌        Eur J Hum Genet 15:1094-7 (2007)
 DOI:10.1038/sj.ejhg.5201878
 PMID:21653732
 著者        De La Fuente R, Baumann C, Viveiros MM
 タイトル      Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
 雑誌        Reproduction 142:221-34 (2011)
 DOI:10.1530/REP-10-0380","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01752"">H01752</a>","ATR-X 症候群;
 X連鎖アルファサラセミア精神遅滞症候群
 上位グループ    サラセミア [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00228"">H00228</a>]","X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic facial appearance, alpha thalassaemia, genital anomalies, skeletal abnormalities, and characteristic posture and/or behavior. ATR-X syndrome is caused by a mutation in the ATRX gene, a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres.",,"ATRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:546"">546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10779"">K10779</a>]",,,,,"The X-linked mental retardation-hypotonic facies syndrome (MRXHF1) is also caused by mutation in the ATRX gene. MRXHF1 comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00228"">H00228</a> Thalassemia and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a> Syndromic X-linked mental retardation.","ICD-11: LD90.Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538258"">C538258</a>
 OMIM: <a href=""https://www.omim.org/entry/301040"">301040</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16100724"">16100724</a>
 著者        Wada T, Sugie H, Fukushima Y, Saitoh S
 タイトル      Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
 雑誌        Am J Med Genet A 138:18-20 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30901"">10.1002/ajmg.a.30901</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17579672"">17579672</a>
 著者        Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K
 タイトル      Partial duplications of the ATRX gene cause the ATR-X syndrome.
 雑誌        Eur J Hum Genet 15:1094-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201878"">10.1038/sj.ejhg.5201878</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21653732"">21653732</a>
 著者        De La Fuente R, Baumann C, Viveiros MM
 タイトル      Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
 雑誌        Reproduction 142:221-34 (2011)
 DOI:<a href=""https://doi.org/10.1530/REP-10-0380"">10.1530/REP-10-0380</a>"
H01753,"アントレー・ビクスラー症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Two genetically distinctive forms have been observed. Type 1 ABS involves mutations in the FGFR2 gene without impairment of steroidogenesis. Type 1 ABS patients are with the most severe skeletal abnormalities but normal genitalia. Type 2 ABS involves mutations in the gene encoding cytochrome P450 oxidoreductase (POR), an enzyme which plays a direct role in steroidogenesis. Type 2 ABS is an autosomal recessive disorder, and it is associated with abnormal genitalia in both sexes due to impaired steroidogenesis. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.",先天奇形,,"FGFR2 [HSA:2263] [KO:K05093]
 POR [HSA:5447] [KO:K00327]",,Fluconazole [CPD:C07002],,,"High doses of fluconazole taken during the first trimester of pregnancy may be associated with Antley-Bixler syndrome.
 See also H00458 Craniosynostosis.","ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: D054882
 OMIM: 201750 207410","PMID:24027687
 著者        Lahiri S, Ghoshal B, Nandi D
 タイトル      A case of antley-bixler syndrome.
 雑誌        J Clin Neonatol 1:46-8 (2012)
 DOI:10.4103/2249-4847.92232
 PMID:24334858
 著者        Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL
 タイトル      Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
 雑誌        Med Princ Pract 23:384-6 (2014)
 DOI:10.1159/000356857
 PMID:18455494
 著者        Kranendonk M, Marohnic CC, Panda SP, Duarte MP, Oliveira JS, Masters BS, Rueff J
 タイトル      Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.
 雑誌        Arch Biochem Biophys 475:93-9 (2008)
 DOI:10.1016/j.abb.2008.04.014
 PMID:10633130 (Env_factor)
 著者        Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Ades L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM
 タイトル      Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
 雑誌        J Med Genet 37:26-32 (2000)
 DOI:10.1136/jmg.37.1.26","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01753"">H01753</a>","アントレー・ビクスラー症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Two genetically distinctive forms have been observed. Type 1 ABS involves mutations in the FGFR2 gene without impairment of steroidogenesis. Type 1 ABS patients are with the most severe skeletal abnormalities but normal genitalia. Type 2 ABS involves mutations in the gene encoding cytochrome P450 oxidoreductase (POR), an enzyme which plays a direct role in steroidogenesis. Type 2 ABS is an autosomal recessive disorder, and it is associated with abnormal genitalia in both sexes due to impaired steroidogenesis. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.",,"FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]
 POR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5447"">5447</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00327"">K00327</a>]",,"Fluconazole [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07002"">C07002</a>]",,,"High doses of fluconazole taken during the first trimester of pregnancy may be associated with Antley-Bixler syndrome.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a> Craniosynostosis.","ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054882"">D054882</a>
 OMIM: <a href=""https://www.omim.org/entry/201750"">201750</a> <a href=""https://www.omim.org/entry/207410"">207410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24027687"">24027687</a>
 著者        Lahiri S, Ghoshal B, Nandi D
 タイトル      A case of antley-bixler syndrome.
 雑誌        J Clin Neonatol 1:46-8 (2012)
 DOI:<a href=""https://doi.org/10.4103/2249-4847.92232"">10.4103/2249-4847.92232</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334858"">24334858</a>
 著者        Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL
 タイトル      Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
 雑誌        Med Princ Pract 23:384-6 (2014)
 DOI:<a href=""https://doi.org/10.1159/000356857"">10.1159/000356857</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18455494"">18455494</a>
 著者        Kranendonk M, Marohnic CC, Panda SP, Duarte MP, Oliveira JS, Masters BS, Rueff J
 タイトル      Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.
 雑誌        Arch Biochem Biophys 475:93-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.abb.2008.04.014"">10.1016/j.abb.2008.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10633130"">10633130</a> (Env_factor)
 著者        Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Ades L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM
 タイトル      Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
 雑誌        J Med Genet 37:26-32 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.1.26"">10.1136/jmg.37.1.26</a>"
H01754,"クルーゾン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans.",先天奇形,,"FGFR2 [HSA:2263] [KO:K05093]
 FGFR3 [HSA:2261] [KO:K05094]",,,,,See also H00458 Craniosynostosis.,"ICD-11: LD24.G1
 ICD-10: Q75.1
 MeSH: D003394
 OMIM: 123500 612247","PMID:21248745
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:10.1038/ejhg.2010.235
 PMID:24346169
 著者        Weiss AH, Phillips J, Kelly JP
 タイトル      Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus.
 雑誌        Invest Ophthalmol Vis Sci 55:310-7 (2014)
 DOI:10.1167/iovs.13-13069
 PMID:26362256
 著者        Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR
 タイトル      FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
 雑誌        Hum Mol Genet 24:6699-710 (2015)
 DOI:10.1093/hmg/ddv374
 PMID:17935505
 著者        Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P
 タイトル      Crouzon with acanthosis nigricans. Further delineation of the syndrome.
 雑誌        Clin Genet 72:405-10 (2007)
 DOI:10.1111/j.1399-0004.2007.00884.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01754"">H01754</a>","クルーゾン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans.",,"FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]
 FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a> Craniosynostosis.","ICD-11: LD24.G1
 ICD-10: Q75.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003394"">D003394</a>
 OMIM: <a href=""https://www.omim.org/entry/123500"">123500</a> <a href=""https://www.omim.org/entry/612247"">612247</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248745"">21248745</a>
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.235"">10.1038/ejhg.2010.235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24346169"">24346169</a>
 著者        Weiss AH, Phillips J, Kelly JP
 タイトル      Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus.
 雑誌        Invest Ophthalmol Vis Sci 55:310-7 (2014)
 DOI:<a href=""https://doi.org/10.1167/iovs.13-13069"">10.1167/iovs.13-13069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26362256"">26362256</a>
 著者        Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR
 タイトル      FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
 雑誌        Hum Mol Genet 24:6699-710 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv374"">10.1093/hmg/ddv374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17935505"">17935505</a>
 著者        Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P
 タイトル      Crouzon with acanthosis nigricans. Further delineation of the syndrome.
 雑誌        Clin Genet 72:405-10 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00884.x"">10.1111/j.1399-0004.2007.00884.x</a>"
H01755,"アペール症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp or Pro253Arg.",先天奇形,,FGFR2 [HSA:2263] [KO:K05093],,,,,See also H00458 Craniosynostosis.,"ICD-11: LD24.G2
 ICD-10: Q87.0
 MeSH: D000168
 OMIM: 101200","PMID:21248745
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:10.1038/ejhg.2010.235
 PMID:28058401
 著者        Koca TT
 タイトル      Apert syndrome: A case report and review of the literature.
 雑誌        North Clin Istanb 3:135-139 (2016)
 DOI:10.14744/nci.2015.30602
 PMID:23546041
 著者        Mundhofir FE, Sistermans EA, Faradz SM, Hamel BC
 タイトル      p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
 雑誌        Singapore Med J 54:e72-5 (2013)
 DOI:10.11622/smedj.2013055","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01755"">H01755</a>","アペール症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp or Pro253Arg.",,"FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a> Craniosynostosis.","ICD-11: LD24.G2
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000168"">D000168</a>
 OMIM: <a href=""https://www.omim.org/entry/101200"">101200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248745"">21248745</a>
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.235"">10.1038/ejhg.2010.235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28058401"">28058401</a>
 著者        Koca TT
 タイトル      Apert syndrome: A case report and review of the literature.
 雑誌        North Clin Istanb 3:135-139 (2016)
 DOI:<a href=""https://doi.org/10.14744/nci.2015.30602"">10.14744/nci.2015.30602</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23546041"">23546041</a>
 著者        Mundhofir FE, Sistermans EA, Faradz SM, Hamel BC
 タイトル      p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
 雑誌        Singapore Med J 54:e72-5 (2013)
 DOI:<a href=""https://doi.org/10.11622/smedj.2013055"">10.11622/smedj.2013055</a>"
H01756,"ファイファー症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.",先天奇形,,"FGFR1 [HSA:2260] [KO:K04362]
 FGFR2 [HSA:2263] [KO:K05093]",,,,,See also H00458 Craniosynostosis.,"ICD-11: LD24.G0
 ICD-10: Q87.0
 MeSH: D000168
 OMIM: 101600","PMID:21248745
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:10.1038/ejhg.2010.235
 PMID:16740155
 著者        Vogels A, Fryns JP
 タイトル      Pfeiffer syndrome.
 雑誌        Orphanet J Rare Dis 1:19 (2006)
 DOI:10.1186/1750-1172-1-19
 PMID:21189955
 著者        Lee MY, Jeon GW, Jung JM, Sin JB
 タイトル      A case of Pfeiffer syndrome with c833_834GC&gt;TG (Cys278Leu) mutation in the FGFR2 gene.
 雑誌        Korean J Pediatr 53:774-7 (2010)
 DOI:10.3345/kjp.2010.53.7.774","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01756"">H01756</a>","ファイファー症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.",,"FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a> Craniosynostosis.","ICD-11: LD24.G0
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000168"">D000168</a>
 OMIM: <a href=""https://www.omim.org/entry/101600"">101600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248745"">21248745</a>
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.235"">10.1038/ejhg.2010.235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16740155"">16740155</a>
 著者        Vogels A, Fryns JP
 タイトル      Pfeiffer syndrome.
 雑誌        Orphanet J Rare Dis 1:19 (2006)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-1-19"">10.1186/1750-1172-1-19</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21189955"">21189955</a>
 著者        Lee MY, Jeon GW, Jung JM, Sin JB
 タイトル      A case of Pfeiffer syndrome with c833_834GC&gt;TG (Cys278Leu) mutation in the FGFR2 gene.
 雑誌        Korean J Pediatr 53:774-7 (2010)
 DOI:<a href=""https://doi.org/10.3345/kjp.2010.53.7.774"">10.3345/kjp.2010.53.7.774</a>"
H01757,禿頭と変形性脊椎症を伴う常染色体劣性白質脳症,,,"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1.",先天奇形,,HTRA1 [HSA:5654] [KO:K08784],,,,,,"ICD-11: 8B22.C1
 ICD-10: F01.1
 MeSH: C563990
 OMIM: 600142","PMID:25712943
 著者        Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C
 タイトル      Shifting the CARASIL paradigm: report of a non-Asian family and literature review.
 雑誌        Stroke 46:1110-2 (2015)
 DOI:10.1161/STROKEAHA.114.006735
 PMID:22900900
 著者        Wang XL, Li CF, Guo HW, Cao BZ
 タイトル      A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.
 雑誌        CNS Neurosci Ther 18:867-9 (2012)
 DOI:10.1111/j.1755-5949.2012.00373.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01757"">H01757</a>",禿頭と変形性脊椎症を伴う常染色体劣性白質脳症,"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1.",,"HTRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5654"">5654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08784"">K08784</a>]",,,,,,"ICD-11: 8B22.C1
 ICD-10: F01.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563990"">C563990</a>
 OMIM: <a href=""https://www.omim.org/entry/600142"">600142</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712943"">25712943</a>
 著者        Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C
 タイトル      Shifting the CARASIL paradigm: report of a non-Asian family and literature review.
 雑誌        Stroke 46:1110-2 (2015)
 DOI:<a href=""https://doi.org/10.1161/STROKEAHA.114.006735"">10.1161/STROKEAHA.114.006735</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22900900"">22900900</a>
 著者        Wang XL, Li CF, Guo HW, Cao BZ
 タイトル      A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.
 雑誌        CNS Neurosci Ther 18:867-9 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1755-5949.2012.00373.x"">10.1111/j.1755-5949.2012.00373.x</a>"
H01758,再発性多発軟骨炎,,,"Relapsing polychondritis (RP) is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart, and skin, with high risk of misdiagnosis. The clinical spectrum may vary from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. The diagnosis of RP is largely based on the clinical features and the role of laboratory investigations is purely supportive and to rule out other related or associated systemic diseases. Treatment in RP is largely symptomatic and a standard management protocol is yet to be established due to its rarity.",筋骨格疾患,,,,,,,,"ICD-11: FB82.3
 ICD-10: M94.1
 MeSH: D011081","PMID:23887438
 著者        Sharma A, Gnanapandithan K, Sharma K, Sharma S
 タイトル      Relapsing polychondritis: a review.
 雑誌        Clin Rheumatol 32:1575-83 (2013)
 DOI:10.1007/s10067-013-2328-x
 PMID:24461536
 著者        Cantarini L, Vitale A, Brizi MG, Caso F, Frediani B, Punzi L, Galeazzi M, Rigante D
 タイトル      Diagnosis and classification of relapsing polychondritis.
 雑誌        J Autoimmun 48-49:53-9 (2014)
 DOI:10.1016/j.jaut.2014.01.026
 PMID:26711694
 著者        Vitale A, Sota J, Rigante D, Lopalco G, Molinaro F, Messina M, Iannone F, Cantarini L
 タイトル      Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives.
 雑誌        Curr Rheumatol Rep 18:3 (2016)
 DOI:10.1007/s11926-015-0549-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01758"">H01758</a>",再発性多発軟骨炎,"Relapsing polychondritis (RP) is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart, and skin, with high risk of misdiagnosis. The clinical spectrum may vary from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. The diagnosis of RP is largely based on the clinical features and the role of laboratory investigations is purely supportive and to rule out other related or associated systemic diseases. Treatment in RP is largely symptomatic and a standard management protocol is yet to be established due to its rarity.",,,,,,,,"ICD-11: FB82.3
 ICD-10: M94.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011081"">D011081</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23887438"">23887438</a>
 著者        Sharma A, Gnanapandithan K, Sharma K, Sharma S
 タイトル      Relapsing polychondritis: a review.
 雑誌        Clin Rheumatol 32:1575-83 (2013)
 DOI:<a href=""https://doi.org/10.1007/s10067-013-2328-x"">10.1007/s10067-013-2328-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24461536"">24461536</a>
 著者        Cantarini L, Vitale A, Brizi MG, Caso F, Frediani B, Punzi L, Galeazzi M, Rigante D
 タイトル      Diagnosis and classification of relapsing polychondritis.
 雑誌        J Autoimmun 48-49:53-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2014.01.026"">10.1016/j.jaut.2014.01.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26711694"">26711694</a>
 著者        Vitale A, Sota J, Rigante D, Lopalco G, Molinaro F, Messina M, Iannone F, Cantarini L
 タイトル      Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives.
 雑誌        Curr Rheumatol Rep 18:3 (2016)
 DOI:<a href=""https://doi.org/10.1007/s11926-015-0549-5"">10.1007/s11926-015-0549-5</a>"
H01759,自己免疫性出血病 XIII,,,"Autoimmune acquired factor XIII (F13) deficiency or autoimmune hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast, non-autoimmune hemorrhagic acquired F13 deficiency (HAF13D) is a less severe bleeding disease secondary to various disease conditions. AHFXIII must be distinguished from HAF13D since AHFXIII requires immunosuppressive therapy to eradicate autoantibodies in addition to F13 replacement therapy to arrest bleeding. Patients with acquired F13 deficiency, in particular those with AHFXIII, are on the increase, at least in Japan.",血液疾患,,,,,,,,ICD-10: D68.4,"PMID:27542511
 著者        Ichinose A
 タイトル      Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients.
 雑誌        Blood Rev 31:37-45 (2017)
 DOI:10.1016/j.blre.2016.08.002
 PMID:24476525
 著者        Tahlan A, Ahluwalia J
 タイトル      Factor XIII: congenital deficiency factor XIII, acquired deficiency, factor XIII A-subunit, and factor XIII B-subunit.
 雑誌        Arch Pathol Lab Med 138:278-81 (2014)
 DOI:10.5858/arpa.2012-0639-RS
 PMID:22477542
 著者        Ichinose A
 タイトル      Factor XIII is a key molecule at the intersection of coagulation and fibrinolysis as well as inflammation and infection control.
 雑誌        Int J Hematol 95:362-70 (2012)
 DOI:10.1007/s12185-012-1064-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01759"">H01759</a>",自己免疫性出血病 XIII,"Autoimmune acquired factor XIII (F13) deficiency or autoimmune hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast, non-autoimmune hemorrhagic acquired F13 deficiency (HAF13D) is a less severe bleeding disease secondary to various disease conditions. AHFXIII must be distinguished from HAF13D since AHFXIII requires immunosuppressive therapy to eradicate autoantibodies in addition to F13 replacement therapy to arrest bleeding. Patients with acquired F13 deficiency, in particular those with AHFXIII, are on the increase, at least in Japan.",,,,,,,,ICD-10: D68.4,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27542511"">27542511</a>
 著者        Ichinose A
 タイトル      Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients.
 雑誌        Blood Rev 31:37-45 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2016.08.002"">10.1016/j.blre.2016.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24476525"">24476525</a>
 著者        Tahlan A, Ahluwalia J
 タイトル      Factor XIII: congenital deficiency factor XIII, acquired deficiency, factor XIII A-subunit, and factor XIII B-subunit.
 雑誌        Arch Pathol Lab Med 138:278-81 (2014)
 DOI:<a href=""https://doi.org/10.5858/arpa.2012-0639-RS"">10.5858/arpa.2012-0639-RS</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22477542"">22477542</a>
 著者        Ichinose A
 タイトル      Factor XIII is a key molecule at the intersection of coagulation and fibrinolysis as well as inflammation and infection control.
 雑誌        Int J Hematol 95:362-70 (2012)
 DOI:<a href=""https://doi.org/10.1007/s12185-012-1064-3"">10.1007/s12185-012-1064-3</a>"
H01760,"肝型糖原病
 下位グループ    フォン・ギールケ病 (糖原病 I 型) [DS:H01939]
 コーリ病 フォーブズ病 (糖原病 III 型) [DS:H01941]
 アンダーセン病 (糖原病 IV 型) [DS:H01942]
 ハース病 (糖原病 VI 型) [DS:H01944]
 ホスホリラーゼキナーゼ欠損症 (糖原病 IX 型) [DS:H01948]
 糖原病 0a 型 [DS:H01950]",,,"Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The hepatic GSDs lead to hepatomegaly and hypoglycemia due to the lack of distribution of glucose to the organism. 80% of hepatic GSD is formed by types I, III, and IX. GSD I involves the liver, kidney and intestine, and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. GSD IIIa patients display symptoms and signs due to the enzyme deficiency in liver, skeletal muscle and heart, whereas the remaining patients with GSD IIIb have only liver-related phenotypes. GSD IV usually presents in the first year of life, with hepatomegaly and growth retardation. GSD VI and IX are caused by a deficiency of the liver phosphorylase and phosphorylase kinase system, and with usually moderate symptoms which manifest mainly in childhood.",先天性代謝異常症,,"(GSB Ia) G6PC [HSA:2538] [KO:K01084]
 (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171]
 (GSB IIIa/b) AGL [HSA:178] [KO:K01196]
 (GSB IV) GBE1 [HSA:2632] [KO:K00700]
 (GSB VI) PYGL [HSA:5836] [KO:K00688]
 (GSB IX) PHKA2 [HSA:5256] [KO:K07190]
 (GSB IXb) PHKB [HSA:5257] [KO:K07190]
 (GSB IXc) PHKG2 [HSA:5261] [KO:K00871]
 (GSB 0a) GYS2 [HSA:2998] [KO:K00693]",,,,,See also H00069 Glycogen storage diseases (GSD).,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006008
 OMIM: 232200 232220 232240 232400 232500 232700 306000 261750 613027 240600","PMID:17552001
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:10.3748/wjg.v13.i18.2541
 PMID:21646031
 著者        Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C
 タイトル      Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
 雑誌        Mol Genet Metab 104:137-43 (2011)
 DOI:10.1016/j.ymgme.2011.05.010
 PMID:25633903
 著者        Derks TG, van Rijn M
 タイトル      Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.
 雑誌        J Inherit Metab Dis 38:537-43 (2015)
 DOI:10.1007/s10545-015-9811-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>","肝型糖原病
 下位グループ    フォン・ギールケ病 (糖原病 I 型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01939"">H01939</a>]
 コーリ病 フォーブズ病 (糖原病 III 型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01941"">H01941</a>]
 アンダーセン病 (糖原病 IV 型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01942"">H01942</a>]
 ハース病 (糖原病 VI 型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01944"">H01944</a>]
 ホスホリラーゼキナーゼ欠損症 (糖原病 IX 型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01948"">H01948</a>]
 糖原病 0a 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01950"">H01950</a>]","Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The hepatic GSDs lead to hepatomegaly and hypoglycemia due to the lack of distribution of glucose to the organism. 80% of hepatic GSD is formed by types I, III, and IX. GSD I involves the liver, kidney and intestine, and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. GSD IIIa patients display symptoms and signs due to the enzyme deficiency in liver, skeletal muscle and heart, whereas the remaining patients with GSD IIIb have only liver-related phenotypes. GSD IV usually presents in the first year of life, with hepatomegaly and growth retardation. GSD VI and IX are caused by a deficiency of the liver phosphorylase and phosphorylase kinase system, and with usually moderate symptoms which manifest mainly in childhood.",,"(GSB Ia) G6PC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2538"">2538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01084"">K01084</a>]
 (GSB Ib) SLC37A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2542"">2542</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08171"">K08171</a>]
 (GSB IIIa/b) AGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:178"">178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01196"">K01196</a>]
 (GSB IV) GBE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2632"">2632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00700"">K00700</a>]
 (GSB VI) PYGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5836"">5836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]
 (GSB IX) PHKA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5256"">5256</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSB IXb) PHKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5257"">5257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSB IXc) PHKG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5261"">5261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00871"">K00871</a>]
 (GSB 0a) GYS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2998"">2998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a> Glycogen storage diseases (GSD).","ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006008"">D006008</a>
 OMIM: <a href=""https://www.omim.org/entry/232200"">232200</a> <a href=""https://www.omim.org/entry/232220"">232220</a> <a href=""https://www.omim.org/entry/232240"">232240</a> <a href=""https://www.omim.org/entry/232400"">232400</a> <a href=""https://www.omim.org/entry/232500"">232500</a> <a href=""https://www.omim.org/entry/232700"">232700</a> <a href=""https://www.omim.org/entry/306000"">306000</a> <a href=""https://www.omim.org/entry/261750"">261750</a> <a href=""https://www.omim.org/entry/613027"">613027</a> <a href=""https://www.omim.org/entry/240600"">240600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17552001"">17552001</a>
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:<a href=""https://doi.org/10.3748/wjg.v13.i18.2541"">10.3748/wjg.v13.i18.2541</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21646031"">21646031</a>
 著者        Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C
 タイトル      Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
 雑誌        Mol Genet Metab 104:137-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.05.010"">10.1016/j.ymgme.2011.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25633903"">25633903</a>
 著者        Derks TG, van Rijn M
 タイトル      Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.
 雑誌        J Inherit Metab Dis 38:537-43 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10545-015-9811-2"">10.1007/s10545-015-9811-2</a>"
H01761,"IgG4 関連疾患;
 IgG4 関連多臓器リンパ増殖症候群",,,"Immunoglobulin G4-related disease is a distinct clinical entity characterised by hyper-IgG4 gammaglobulinemia and IgG4 positive plasma cell infiltration in the tissue. Other characteristic features of this syndrome include mass-forming lesion with fibrosis and prompt and good response to corticosteroids. This disease includes Mikulicz's disease (MD), autoimmune pancreatitis, sclerosing cholangitis, Kuttner's tumour, inflammatory pseudotumor of the lung, liver, and breast, retroperitoneal and mediastinal fibrosis, interstitial nephritis, autoimmune hypophysitis, and many other inflammatory conditions in multiple organs. Glucocorticoids are the mainstay of treatment; recently, rituximab, a select B-cell depleting agent, has been shown to provide an excellent clinical response in select patients.",免疫系疾患,,,,,,,,"ICD-11: 4A43.0
 ICD-10: M35.9 K11.8","PMID:20457280
 著者        Takahashi H, Yamamoto M, Suzuki C, Naishiro Y, Shinomura Y, Imai K
 タイトル      The birthday of a new syndrome: IgG4-related diseases constitute a clinical entity.
 雑誌        Autoimmun Rev 9:591-4 (2010)
 DOI:10.1016/j.autrev.2010.05.003
 PMID:18701557
 著者        Masaki Y, Dong L, Kurose N, Kitagawa K, Morikawa Y, Yamamoto M, Takahashi H, Shinomura Y, Imai K, Saeki T, Azumi A, Nakada S, Sugiyama E, Matsui S, Origuchi T, Nishiyama S, Nishimori I, Nojima T, Yamada K, Kawano M, Zen Y, Kaneko M, Miyazaki K, Tsubota K, Eguchi K, Tomoda K, Sawaki T, Kawanami T, Tanaka M, Fukushima T, Sugai S, Umehara H
 タイトル      Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders.
 雑誌        Ann Rheum Dis 68:1310-5 (2009)
 DOI:10.1136/ard.2008.089169
 PMID:27153787 (description, drug)
 著者        Katabathina VS, Khalil S, Shin S, Lath N, Menias CO, Prasad SR
 タイトル      Immunoglobulin G4-Related Disease: Recent Advances in Pathogenesis and Imaging Findings.
 雑誌        Radiol Clin North Am 54:535-51 (2016)
 DOI:10.1016/j.rcl.2015.12.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01761"">H01761</a>","IgG4 関連疾患;
 IgG4 関連多臓器リンパ増殖症候群","Immunoglobulin G4-related disease is a distinct clinical entity characterised by hyper-IgG4 gammaglobulinemia and IgG4 positive plasma cell infiltration in the tissue. Other characteristic features of this syndrome include mass-forming lesion with fibrosis and prompt and good response to corticosteroids. This disease includes Mikulicz's disease (MD), autoimmune pancreatitis, sclerosing cholangitis, Kuttner's tumour, inflammatory pseudotumor of the lung, liver, and breast, retroperitoneal and mediastinal fibrosis, interstitial nephritis, autoimmune hypophysitis, and many other inflammatory conditions in multiple organs. Glucocorticoids are the mainstay of treatment; recently, rituximab, a select B-cell depleting agent, has been shown to provide an excellent clinical response in select patients.",,,,,,,,"ICD-11: 4A43.0
 ICD-10: M35.9 K11.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20457280"">20457280</a>
 著者        Takahashi H, Yamamoto M, Suzuki C, Naishiro Y, Shinomura Y, Imai K
 タイトル      The birthday of a new syndrome: IgG4-related diseases constitute a clinical entity.
 雑誌        Autoimmun Rev 9:591-4 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.autrev.2010.05.003"">10.1016/j.autrev.2010.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18701557"">18701557</a>
 著者        Masaki Y, Dong L, Kurose N, Kitagawa K, Morikawa Y, Yamamoto M, Takahashi H, Shinomura Y, Imai K, Saeki T, Azumi A, Nakada S, Sugiyama E, Matsui S, Origuchi T, Nishiyama S, Nishimori I, Nojima T, Yamada K, Kawano M, Zen Y, Kaneko M, Miyazaki K, Tsubota K, Eguchi K, Tomoda K, Sawaki T, Kawanami T, Tanaka M, Fukushima T, Sugai S, Umehara H
 タイトル      Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders.
 雑誌        Ann Rheum Dis 68:1310-5 (2009)
 DOI:<a href=""https://doi.org/10.1136/ard.2008.089169"">10.1136/ard.2008.089169</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27153787"">27153787</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Katabathina VS, Khalil S, Shin S, Lath N, Menias CO, Prasad SR
 タイトル      Immunoglobulin G4-Related Disease: Recent Advances in Pathogenesis and Imaging Findings.
 雑誌        Radiol Clin North Am 54:535-51 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.rcl.2015.12.010"">10.1016/j.rcl.2015.12.010</a>"
H01762,"筋型糖原病
 下位グループ    ポンペ病 (糖原病 II型) [DS:H01940]
 コーリ病 フォーブズ病 (糖原病 III型) [DS:H01941]
 アンダーセン病 (糖原病 IV型) [DS:H01942]
 マッカードル病 (糖原病 V型) [DS:H01943]
 垂井病 (糖原病 VII型) [DS:H01945]
 ホスホリラーゼキナーゼ欠損症 (糖原病 IXd型) [DS:H01948]
 糖原病 X 型[DS:H01951]
 糖原病 XI 型[DS:H01946]
 糖原病 XII 型 [DS:H01952]
 糖原病 XIII 型 [DS:H01953]
 糖原病 XIV 型 [DS:H01954]
 糖原病 XV 型 [DS:H01955]
 糖原病 0b 型 [DS:H01949]",,,"Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. GSD has been known to mainly be a liver disease with the exception of Pompe (GSD II), McArdle (GSD V), or Tarui (GSD VII) diseases. Recently, however, various muscular disorders involving different types of muscles have been described to be caused by defective glycogen metabolism. In the Muscle GSDs, the consequence of a block in skeletal muscle glycogenolysis, or in the glycolysis, is an impairment of muscular performance, owing to an increase in glycogen storage that disrupts contractile function and/or a reduced substrate turnover, which inhibits skeletal muscle ATP production.",先天性代謝異常症,,"(GSD II) GAA [HSA:2548] [KO:K12316]
 (GSD III) AGL [HSA:178] [KO:K01196]
 (GSD IV) GBE1 [HSA:2632] [KO:K00700]
 (GSD V) PYGM [HSA:5837] [KO:K00688]
 (GSD VII) PFKM [HSA:5213] [KO:K00850]
 (GSD IXd) PHKA1 [HSA:5255] [KO:K07190]
 (GSD X) PGAM2 [HSA:5224] [KO:K01834]
 (GSD XI) LDHA [HSA:3939] [KO:K00016]
 (GSD XII) ALDOA [HSA:226] [KO:K01623]
 (GSD XIII) ENO3 [HSA:2027] [KO:K01689]
 (GSD XIV) PGM1 [HSA:5236] [KO:K01835]
 (GSD XV) GYG1 [HSA:2992] [KO:K00750]
 (GSB 0) GYS1 [HSA:2997] [KO:K00693]",,,,,See also H00069 Glycogen storage diseases (GSD).,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006008
 OMIM: 232300 232400 232500 232600 232800 300559 261670 612933 611881 612932 614921 613507 611556","PMID:17552001
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:10.3748/wjg.v13.i18.2541
 PMID:17027861
 著者        Shin YS
 タイトル      Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
 雑誌        Semin Pediatr Neurol 13:115-20 (2006)
 DOI:10.1016/j.spen.2006.06.007
 PMID:25326273
 著者        Preisler N, Haller RG, Vissing J
 タイトル      Exercise in muscle glycogen storage diseases.
 雑誌        J Inherit Metab Dis 38:551-63 (2015)
 DOI:10.1007/s10545-014-9771-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>","筋型糖原病
 下位グループ    ポンペ病 (糖原病 II型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01940"">H01940</a>]
 コーリ病 フォーブズ病 (糖原病 III型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01941"">H01941</a>]
 アンダーセン病 (糖原病 IV型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01942"">H01942</a>]
 マッカードル病 (糖原病 V型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01943"">H01943</a>]
 垂井病 (糖原病 VII型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01945"">H01945</a>]
 ホスホリラーゼキナーゼ欠損症 (糖原病 IXd型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01948"">H01948</a>]
 糖原病 X 型[DS:<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01951]"">H01951]</a>
 糖原病 XI 型[DS:<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01946]"">H01946]</a>
 糖原病 XII 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01952"">H01952</a>]
 糖原病 XIII 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01953"">H01953</a>]
 糖原病 XIV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01954"">H01954</a>]
 糖原病 XV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01955"">H01955</a>]
 糖原病 0b 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01949"">H01949</a>]","Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. GSD has been known to mainly be a liver disease with the exception of Pompe (GSD II), McArdle (GSD V), or Tarui (GSD VII) diseases. Recently, however, various muscular disorders involving different types of muscles have been described to be caused by defective glycogen metabolism. In the Muscle GSDs, the consequence of a block in skeletal muscle glycogenolysis, or in the glycolysis, is an impairment of muscular performance, owing to an increase in glycogen storage that disrupts contractile function and/or a reduced substrate turnover, which inhibits skeletal muscle ATP production.",,"(GSD II) GAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2548"">2548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12316"">K12316</a>]
 (GSD III) AGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:178"">178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01196"">K01196</a>]
 (GSD IV) GBE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2632"">2632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00700"">K00700</a>]
 (GSD V) PYGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5837"">5837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]
 (GSD VII) PFKM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5213"">5213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00850"">K00850</a>]
 (GSD IXd) PHKA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5255"">5255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD X) PGAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5224"">5224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01834"">K01834</a>]
 (GSD XI) LDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3939"">3939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00016"">K00016</a>]
 (GSD XII) ALDOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:226"">226</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01623"">K01623</a>]
 (GSD XIII) ENO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2027"">2027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01689"">K01689</a>]
 (GSD XIV) PGM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5236"">5236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01835"">K01835</a>]
 (GSD XV) GYG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2992"">2992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00750"">K00750</a>]
 (GSB 0) GYS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2997"">2997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a> Glycogen storage diseases (GSD).","ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006008"">D006008</a>
 OMIM: <a href=""https://www.omim.org/entry/232300"">232300</a> <a href=""https://www.omim.org/entry/232400"">232400</a> <a href=""https://www.omim.org/entry/232500"">232500</a> <a href=""https://www.omim.org/entry/232600"">232600</a> <a href=""https://www.omim.org/entry/232800"">232800</a> <a href=""https://www.omim.org/entry/300559"">300559</a> <a href=""https://www.omim.org/entry/261670"">261670</a> <a href=""https://www.omim.org/entry/612933"">612933</a> <a href=""https://www.omim.org/entry/611881"">611881</a> <a href=""https://www.omim.org/entry/612932"">612932</a> <a href=""https://www.omim.org/entry/614921"">614921</a> <a href=""https://www.omim.org/entry/613507"">613507</a> <a href=""https://www.omim.org/entry/611556"">611556</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17552001"">17552001</a>
 著者        Ozen H
 タイトル      Glycogen storage diseases: new perspectives.
 雑誌        World J Gastroenterol 13:2541-53 (2007)
 DOI:<a href=""https://doi.org/10.3748/wjg.v13.i18.2541"">10.3748/wjg.v13.i18.2541</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17027861"">17027861</a>
 著者        Shin YS
 タイトル      Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
 雑誌        Semin Pediatr Neurol 13:115-20 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2006.06.007"">10.1016/j.spen.2006.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25326273"">25326273</a>
 著者        Preisler N, Haller RG, Vissing J
 タイトル      Exercise in muscle glycogen storage diseases.
 雑誌        J Inherit Metab Dis 38:551-63 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10545-014-9771-y"">10.1007/s10545-014-9771-y</a>"
H01763,"ポルフィリン症
 下位グループ    骨髄性ポルフィリン症 [DS:H00201]
 肝性ポルフィリン症 [DS:H00202]",,,"Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.",先天性代謝異常症,nt06011  Heme biosynthesis,"(EPP1) FECH [HSA:2235] [KO:K01772]
 (EPP2) CLPX [HSA:10845] [KO:K03544]
 (CEP) UROS [HSA:7390] [KO:K01719]
 (HEP, PCT) UROD [HSA:7389] [KO:K01599]
 (ADP) ALAD [HSA:210] [KO:K01698]
 (AIP) HMBS [HSA:3145] [KO:K01749]
 (HCP) CPOX [HSA:1371] [KO:K00228]
 (VP) PPOX [HSA:5498] [KO:K00231]
 (XLDPP) ALAS2 [HSA:212] [KO:K00643]",,,,ヘミン [DR:D10003],,"ICD-11: 5C58.1
 ICD-10: E80
 MeSH: D017092 D017094
 OMIM: 177000 618015 263700 176000 176100 176200 121300 125270 300752","PMID:18537592
 著者        Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
 タイトル      Erythropoietic porphyrias: animal models and update in gene-based therapies.
 雑誌        Curr Gene Ther 8:176-86 (2008)
 DOI:10.2174/156652308784746477
 PMID:12367763
 著者        Nordmann Y, Puy H
 タイトル      Human hereditary hepatic porphyrias.
 雑誌        Clin Chim Acta 325:17-37 (2002)
 DOI:10.1016/S0009-8981(02)00276-0
 PMID:1755842 (FECH)
 著者        Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC
 タイトル      Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
 雑誌        Biochem Biophys Res Commun 181:594-9 (1991)
 DOI:10.1016/0006-291x(91)91231-z
 PMID:28874591 (CLPX)
 著者        Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH
 タイトル      Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
 雑誌        Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
 DOI:10.1073/pnas.1700632114
 PMID:8829650 (UROS)
 著者        Xu W, Astrin KH, Desnick RJ
 タイトル      Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
 雑誌        Hum Mutat 7:187-92 (1996)
 DOI:10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8
 PMID:2920211 (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:10.1182/blood.V73.4.892.892
 PMID:2063868 (ALAD)
 著者        Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
 タイトル      delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
 雑誌        Am J Hum Genet 49:167-74 (1991)
 PMID:2563167 (HMBS)
 著者        Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Romeo PH, Goossens M, Nordmann Y
 タイトル      Tissue-specific splicing mutation in acute intermittent porphyria.
 雑誌        Proc Natl Acad Sci U S A 86:661-4 (1989)
 DOI:10.1073/pnas.86.2.661
 PMID:8012360 (CPOX)
 著者        Martasek P, Nordmann Y, Grandchamp B
 タイトル      Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
 雑誌        Hum Mol Genet 3:477-80 (1994)
 DOI:10.1093/hmg/3.3.477
 PMID:8852667 (PPOX)
 著者        Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
 タイトル      Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
 雑誌        Hum Mol Genet 5:407-10 (1996)
 DOI:10.1093/hmg/5.3.407
 PMID:21653323 (ALAS2)
 著者        To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
 タイトル      ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
 雑誌        Blood 118:1443-51 (2011)
 DOI:10.1182/blood-2011-03-342873","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01763"">H01763</a>","ポルフィリン症
 下位グループ    骨髄性ポルフィリン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00201"">H00201</a>]
 肝性ポルフィリン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00202"">H00202</a>]","Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.","<a href=""https://www.kegg.jp/network/nt06011"">nt06011</a>  Heme biosynthesis","(EPP1) FECH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2235"">2235</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01772"">K01772</a>]
 (EPP2) CLPX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10845"">10845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03544"">K03544</a>]
 (CEP) UROS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7390"">7390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01719"">K01719</a>]
 (HEP, PCT) UROD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7389"">7389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01599"">K01599</a>]
 (ADP) ALAD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:210"">210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01698"">K01698</a>]
 (AIP) HMBS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3145"">3145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01749"">K01749</a>]
 (HCP) CPOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1371"">1371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00228"">K00228</a>]
 (VP) PPOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5498"">5498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00231"">K00231</a>]
 (XLDPP) ALAS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:212"">212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00643"">K00643</a>]",,,,"ヘミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10003"">D10003</a>]",,"ICD-11: 5C58.1
 ICD-10: E80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017092"">D017092</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017094"">D017094</a>
 OMIM: <a href=""https://www.omim.org/entry/177000"">177000</a> <a href=""https://www.omim.org/entry/618015"">618015</a> <a href=""https://www.omim.org/entry/263700"">263700</a> <a href=""https://www.omim.org/entry/176000"">176000</a> <a href=""https://www.omim.org/entry/176100"">176100</a> <a href=""https://www.omim.org/entry/176200"">176200</a> <a href=""https://www.omim.org/entry/121300"">121300</a> <a href=""https://www.omim.org/entry/125270"">125270</a> <a href=""https://www.omim.org/entry/300752"">300752</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18537592"">18537592</a>
 著者        Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
 タイトル      Erythropoietic porphyrias: animal models and update in gene-based therapies.
 雑誌        Curr Gene Ther 8:176-86 (2008)
 DOI:<a href=""https://doi.org/10.2174/156652308784746477"">10.2174/156652308784746477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12367763"">12367763</a>
 著者        Nordmann Y, Puy H
 タイトル      Human hereditary hepatic porphyrias.
 雑誌        Clin Chim Acta 325:17-37 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0009-8981(02)00276-0"">10.1016/S0009-8981(02)00276-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1755842"">1755842</a> (FECH)
 著者        Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC
 タイトル      Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
 雑誌        Biochem Biophys Res Commun 181:594-9 (1991)
 DOI:<a href=""https://doi.org/10.1016/0006-291x(91)91231-z"">10.1016/0006-291x(91)91231-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28874591"">28874591</a> (CLPX)
 著者        Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH
 タイトル      Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
 雑誌        Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
 DOI:<a href=""https://doi.org/10.1073/pnas.1700632114"">10.1073/pnas.1700632114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8829650"">8829650</a> (UROS)
 著者        Xu W, Astrin KH, Desnick RJ
 タイトル      Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
 雑誌        Hum Mutat 7:187-92 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1996)7:"">10.1002/(SICI)1098-1004(1996)7:</a><a href=""https://doi.org/3<187:"">3<187:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-8"">AID-HUMU1>3.0.CO;2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2920211"">2920211</a> (UROD)
 著者        Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
 タイトル      A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
 雑誌        Blood 73:892-5 (1989)
 DOI:<a href=""https://doi.org/10.1182/blood.V73.4.892.892"">10.1182/blood.V73.4.892.892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2063868"">2063868</a> (ALAD)
 著者        Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
 タイトル      delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
 雑誌        Am J Hum Genet 49:167-74 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2563167"">2563167</a> (HMBS)
 著者        Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Romeo PH, Goossens M, Nordmann Y
 タイトル      Tissue-specific splicing mutation in acute intermittent porphyria.
 雑誌        Proc Natl Acad Sci U S A 86:661-4 (1989)
 DOI:<a href=""https://doi.org/10.1073/pnas.86.2.661"">10.1073/pnas.86.2.661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8012360"">8012360</a> (CPOX)
 著者        Martasek P, Nordmann Y, Grandchamp B
 タイトル      Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
 雑誌        Hum Mol Genet 3:477-80 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.3.477"">10.1093/hmg/3.3.477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8852667"">8852667</a> (PPOX)
 著者        Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
 タイトル      Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
 雑誌        Hum Mol Genet 5:407-10 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.3.407"">10.1093/hmg/5.3.407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21653323"">21653323</a> (ALAS2)
 著者        To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
 タイトル      ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
 雑誌        Blood 118:1443-51 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2011-03-342873"">10.1182/blood-2011-03-342873</a>"
H01764,多脾症候群,,,"Polysplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome with multiple spleens. It has been reported that most patients die before 5 years of age because the disease is often associated with congenital anomalies, such as cardiovascular anomalies. Some patients have a normal heart or only minor cardiac defects, are often diagnosed incidentally in patients being treated for other disease. The patient has bilateral bilobed lungs with hyparterial bronchi, abnormal location of abdominal solid organs and malrotation of bowels with multiple spleens. The etiology of PSS is not known yet. The causative factors of PSS are thought to be association of embryonic, genetic and teratogenic components.",先天奇形,,,,,,,See also H00632 Heterotaxy and H01435 Congenital asplenia.,"ICD-11: LA84
 ICD-10: Q89.0
 MeSH: D059446
 OMIM: 208530","PMID:19009663
 著者        Seo HI, Jeon TY, Sim MS, Kim S
 タイトル      Polysplenia syndrome with preduodenal portal vein detected in adults.
 雑誌        World J Gastroenterol 14:6418-20 (2008)
 DOI:10.3748/wjg.14.6418
 PMID:25237401
 著者        Yilmaz G, Akpinar SH, Alicioglu B
 タイトル      Polysplenia syndrome detected after chest symptoms in two adult patients: case report and review of literature.
 雑誌        Pol J Radiol 79:311-4 (2014)
 DOI:10.12659/PJR.890643","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01764"">H01764</a>",多脾症候群,"Polysplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome with multiple spleens. It has been reported that most patients die before 5 years of age because the disease is often associated with congenital anomalies, such as cardiovascular anomalies. Some patients have a normal heart or only minor cardiac defects, are often diagnosed incidentally in patients being treated for other disease. The patient has bilateral bilobed lungs with hyparterial bronchi, abnormal location of abdominal solid organs and malrotation of bowels with multiple spleens. The etiology of PSS is not known yet. The causative factors of PSS are thought to be association of embryonic, genetic and teratogenic components.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00632"">H00632</a> Heterotaxy and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01435"">H01435</a> Congenital asplenia.","ICD-11: LA84
 ICD-10: Q89.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D059446"">D059446</a>
 OMIM: <a href=""https://www.omim.org/entry/208530"">208530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19009663"">19009663</a>
 著者        Seo HI, Jeon TY, Sim MS, Kim S
 タイトル      Polysplenia syndrome with preduodenal portal vein detected in adults.
 雑誌        World J Gastroenterol 14:6418-20 (2008)
 DOI:<a href=""https://doi.org/10.3748/wjg.14.6418"">10.3748/wjg.14.6418</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25237401"">25237401</a>
 著者        Yilmaz G, Akpinar SH, Alicioglu B
 タイトル      Polysplenia syndrome detected after chest symptoms in two adult patients: case report and review of literature.
 雑誌        Pol J Radiol 79:311-4 (2014)
 DOI:<a href=""https://doi.org/10.12659/PJR.890643"">10.12659/PJR.890643</a>"
H01765,好酸球性副鼻腔炎,,,"Eosinophilic chronic rhinosinusitis (ECRS) is an inflammatory pathological condition of the nose and paranasal sinuses. Chronic rhinosinusitis (CRS) is a common disease worldwide, and CRS may be divided into ECRS and non-ECRS subtypes based on the presence of tissue eosinophilic infiltration or not. There are significant geographic and ethnic differences in the tissue eosinophilic infiltration, which is predominant in Western white patients and less common in East Asians, despite an increasing tendency for its prevalence in East Asia countries. ECRS commonly demonstrates more severe symptoms, polyp diseases with a higher incidence of bilateral polyps and sinonasal diseases on computed tomography, and the increase in blood eosinophils. Patients with ECRS exhibit clinical characteristics that include long term nasal congestion, mucus production, olfactory disturbances, bilateral nasal polyposis, and intermittent acute exacerbation of secondary bacterial infections. Since there is no approved medication to treat patients with ECRS with nasal polyps completely, surgery is often needed to clear the sinonasal passage, and repeated endoscopic sinus surgery (ESS) is often required. The effectiveness of low-dose, long-term erythromycin treatment (macrolide therapy) was reported for the treatment of CRS in Japan.",免疫系疾患,,,,,,,,"ICD-11: CA0A
 ICD-10: J32.8","PMID:25516863
 著者        Wang ET, Zheng Y, Liu PF, Guo LJ
 タイトル      Eosinophilic chronic rhinosinusitis in East Asians.
 雑誌        World J Clin Cases 2:873-82 (2014)
 DOI:10.12998/wjcc.v2.i12.873
 PMID:27053925 (description, drug)
 著者        Shah SA, Ishinaga H, Takeuchi K
 タイトル      Pathogenesis of eosinophilic chronic rhinosinusitis.
 雑誌        J Inflamm (Lond) 13:11 (2016)
 DOI:10.1186/s12950-016-0121-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01765"">H01765</a>",好酸球性副鼻腔炎,"Eosinophilic chronic rhinosinusitis (ECRS) is an inflammatory pathological condition of the nose and paranasal sinuses. Chronic rhinosinusitis (CRS) is a common disease worldwide, and CRS may be divided into ECRS and non-ECRS subtypes based on the presence of tissue eosinophilic infiltration or not. There are significant geographic and ethnic differences in the tissue eosinophilic infiltration, which is predominant in Western white patients and less common in East Asians, despite an increasing tendency for its prevalence in East Asia countries. ECRS commonly demonstrates more severe symptoms, polyp diseases with a higher incidence of bilateral polyps and sinonasal diseases on computed tomography, and the increase in blood eosinophils. Patients with ECRS exhibit clinical characteristics that include long term nasal congestion, mucus production, olfactory disturbances, bilateral nasal polyposis, and intermittent acute exacerbation of secondary bacterial infections. Since there is no approved medication to treat patients with ECRS with nasal polyps completely, surgery is often needed to clear the sinonasal passage, and repeated endoscopic sinus surgery (ESS) is often required. The effectiveness of low-dose, long-term erythromycin treatment (macrolide therapy) was reported for the treatment of CRS in Japan.",,,,,,,,"ICD-11: CA0A
 ICD-10: J32.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25516863"">25516863</a>
 著者        Wang ET, Zheng Y, Liu PF, Guo LJ
 タイトル      Eosinophilic chronic rhinosinusitis in East Asians.
 雑誌        World J Clin Cases 2:873-82 (2014)
 DOI:<a href=""https://doi.org/10.12998/wjcc.v2.i12.873"">10.12998/wjcc.v2.i12.873</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27053925"">27053925</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Shah SA, Ishinaga H, Takeuchi K
 タイトル      Pathogenesis of eosinophilic chronic rhinosinusitis.
 雑誌        J Inflamm (Lond) 13:11 (2016)
 DOI:<a href=""https://doi.org/10.1186/s12950-016-0121-8"">10.1186/s12950-016-0121-8</a>"
H01766,"若年網膜分離症
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers.",先天奇形,,,,,,,,"ICD-11: 9B73.11
 ICD-10: Q14.1
 MeSH: D041441
 OMIM: 312700","PMID:17172462
 著者        Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D
 タイトル      X-linked retinoschisis: an update.
 雑誌        J Med Genet 44:225-32 (2007)
 DOI:10.1136/jmg.2006.047340
 PMID:17525175
 著者        Dyka FM, Molday RS
 タイトル      Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
 雑誌        Invest Ophthalmol Vis Sci 48:2491-7 (2007)
 DOI:10.1167/iovs.06-1465","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01766"">H01766</a>","若年網膜分離症
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers.",,,,,,,,"ICD-11: 9B73.11
 ICD-10: Q14.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D041441"">D041441</a>
 OMIM: <a href=""https://www.omim.org/entry/312700"">312700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17172462"">17172462</a>
 著者        Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D
 タイトル      X-linked retinoschisis: an update.
 雑誌        J Med Genet 44:225-32 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.047340"">10.1136/jmg.2006.047340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17525175"">17525175</a>
 著者        Dyka FM, Molday RS
 タイトル      Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
 雑誌        Invest Ophthalmol Vis Sci 48:2491-7 (2007)
 DOI:<a href=""https://doi.org/10.1167/iovs.06-1465"">10.1167/iovs.06-1465</a>"
H01767,紫斑病性腎炎,,,"Henoch-Schonlein purpura nephritis (HSPN) is a rare kidney disease leading to chronic kidney disease in a non-negligible percentage of patients. Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] in children is favorable, but there are severe complications, one of which is renal involvement. HSPN is mainly characterized by acute episodes of glomerular inflammation with endocapillary and mesangial proliferation, fibrin deposits, and epithelial crescents that can heal spontaneously or lead to chronic lesions. HSPN and IgA nephropathy [DR:H01581] are currently considered related diseases resulting from glomerular deposition of aberrantly glycosylated IgA1. Although both nephritides present with similar histological findings and IgA abnormalities, they display pathophysiological differences with important therapeutic implications. Although there have been few evidence-based treatment strategies for HSPN, several studies have suggested that immunosuppressive drugs and multiple drug combination therapy were effective in ameliorating proteinuria and histological severity.",免疫系疾患; 泌尿器系疾患,,,,,,,,"ICD-11: 4A44.92 MF8Y
 ICD-10: N02.9","PMID:21393485
 著者        Davin JC
 タイトル      Henoch-Schonlein purpura nephritis: pathophysiology, treatment, and future strategy.
 雑誌        Clin J Am Soc Nephrol 6:679-89 (2011)
 DOI:10.2215/CJN.06710810
 PMID:25557596
 著者        Chen JY, Mao JH
 タイトル      Henoch-Schonlein purpura nephritis in children: incidence, pathogenesis and management.
 雑誌        World J Pediatr 11:29-34 (2015)
 DOI:10.1007/s12519-014-0534-5
 PMID:25072122
 著者        Davin JC, Coppo R
 タイトル      Henoch-Schonlein purpura nephritis in children.
 雑誌        Nat Rev Nephrol 10:563-73 (2014)
 DOI:10.1038/nrneph.2014.126","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01767"">H01767</a>",紫斑病性腎炎,"Henoch-Schonlein purpura nephritis (HSPN) is a rare kidney disease leading to chronic kidney disease in a non-negligible percentage of patients. Generally, the prognosis of Henoch-Schonlein purpura [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01584"">H01584</a>] in children is favorable, but there are severe complications, one of which is renal involvement. HSPN is mainly characterized by acute episodes of glomerular inflammation with endocapillary and mesangial proliferation, fibrin deposits, and epithelial crescents that can heal spontaneously or lead to chronic lesions. HSPN and IgA nephropathy [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:H01581"">H01581</a>] are currently considered related diseases resulting from glomerular deposition of aberrantly glycosylated IgA1. Although both nephritides present with similar histological findings and IgA abnormalities, they display pathophysiological differences with important therapeutic implications. Although there have been few evidence-based treatment strategies for HSPN, several studies have suggested that immunosuppressive drugs and multiple drug combination therapy were effective in ameliorating proteinuria and histological severity.",,,,,,,,"ICD-11: 4A44.92 MF8Y
 ICD-10: N02.9","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21393485"">21393485</a>
 著者        Davin JC
 タイトル      Henoch-Schonlein purpura nephritis: pathophysiology, treatment, and future strategy.
 雑誌        Clin J Am Soc Nephrol 6:679-89 (2011)
 DOI:<a href=""https://doi.org/10.2215/CJN.06710810"">10.2215/CJN.06710810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25557596"">25557596</a>
 著者        Chen JY, Mao JH
 タイトル      Henoch-Schonlein purpura nephritis in children: incidence, pathogenesis and management.
 雑誌        World J Pediatr 11:29-34 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12519-014-0534-5"">10.1007/s12519-014-0534-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25072122"">25072122</a>
 著者        Davin JC, Coppo R
 タイトル      Henoch-Schonlein purpura nephritis in children.
 雑誌        Nat Rev Nephrol 10:563-73 (2014)
 DOI:<a href=""https://doi.org/10.1038/nrneph.2014.126"">10.1038/nrneph.2014.126</a>"
H01768,"中心性輪紋状脈絡膜ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years. Autosomal-recessive cases that is caused by mutations in GUCY2D have been reported. However, in most cases, CACD is inherited as an autosomal-dominant trait. Autosomal-dominant CACD is genetically heterogeneous but mutations in the peripherin/RDS gene (PRPH2) seem to be the most common cause. The PRPH2 encodes a photoreceptor-specific glycoprotein. It is believed to play an important role in the assembly, orientation, and physical stability of photoreceptor outer segment disks.",神経系疾患,,"(CACD1) GUCY2D [HSA:3000] [KO:K12321]
 (CACD2) PRPH2 [HSA:5961] [KO:K17343]",,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: C535358 C567750
 OMIM: 215500 613105","PMID:19243827
 著者        Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB
 タイトル      Central areolar choroidal dystrophy.
 雑誌        Ophthalmology 116:771-82, 782.e1 (2009)
 DOI:10.1016/j.ophtha.2008.12.019
 PMID:19262438
 著者        Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly TL, McKibbin M
 タイトル      Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
 雑誌        Retina 29:682-8 (2009)
 DOI:10.1097/IAE.0b013e318198dbed
 PMID:22695961
 著者        Hughes AE, Meng W, Lotery AJ, Bradley DT
 タイトル      A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 53:4748-53 (2012)
 DOI:10.1167/iovs.12-10061","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01768"">H01768</a>","中心性輪紋状脈絡膜ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years. Autosomal-recessive cases that is caused by mutations in GUCY2D have been reported. However, in most cases, CACD is inherited as an autosomal-dominant trait. Autosomal-dominant CACD is genetically heterogeneous but mutations in the peripherin/RDS gene (PRPH2) seem to be the most common cause. The PRPH2 encodes a photoreceptor-specific glycoprotein. It is believed to play an important role in the assembly, orientation, and physical stability of photoreceptor outer segment disks.",,"(CACD1) GUCY2D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3000"">3000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12321"">K12321</a>]
 (CACD2) PRPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5961"">5961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17343"">K17343</a>]",,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535358"">C535358</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567750"">C567750</a>
 OMIM: <a href=""https://www.omim.org/entry/215500"">215500</a> <a href=""https://www.omim.org/entry/613105"">613105</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19243827"">19243827</a>
 著者        Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB
 タイトル      Central areolar choroidal dystrophy.
 雑誌        Ophthalmology 116:771-82, 782.e1 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2008.12.019"">10.1016/j.ophtha.2008.12.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19262438"">19262438</a>
 著者        Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly TL, McKibbin M
 タイトル      Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
 雑誌        Retina 29:682-8 (2009)
 DOI:<a href=""https://doi.org/10.1097/IAE.0b013e318198dbed"">10.1097/IAE.0b013e318198dbed</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22695961"">22695961</a>
 著者        Hughes AE, Meng W, Lotery AJ, Bradley DT
 タイトル      A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
 雑誌        Invest Ophthalmol Vis Sci 53:4748-53 (2012)
 DOI:<a href=""https://doi.org/10.1167/iovs.12-10061"">10.1167/iovs.12-10061</a>"
H01769,ZTTK 症候群,,,"ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Several studies have reported that deleterious variants in SON gene are associated with this disease.",先天奇形,,SON [HSA:6651] [KO:K23718],,,,,,"ICD-11: LD90.Y
 OMIM: 617140","PMID:27545680
 著者        Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BB, Jewett T, Santoro SL, Vogt J, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortum F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann AP, Stevens SJ, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LE, Ahn EY
 タイトル      De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
 雑誌        Am J Hum Genet 99:711-9 (2016)
 DOI:10.1016/j.ajhg.2016.06.029
 PMID:27545676
 著者        Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Kury S, Besnard T, Isidor B, Latypova X, Bezieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA
 タイトル      De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
 雑誌        Am J Hum Genet 99:720-7 (2016)
 DOI:10.1016/j.ajhg.2016.06.035
 PMID:27256762
 著者        Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K
 タイトル      Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
 雑誌        Am J Med Genet A 170:2587-90 (2016)
 DOI:10.1002/ajmg.a.37761","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01769"">H01769</a>",ZTTK 症候群,"ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Several studies have reported that deleterious variants in SON gene are associated with this disease.",,"SON [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6651"">6651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23718"">K23718</a>]",,,,,,"ICD-11: LD90.Y
 OMIM: <a href=""https://www.omim.org/entry/617140"">617140</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27545680"">27545680</a>
 著者        Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BB, Jewett T, Santoro SL, Vogt J, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortum F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann AP, Stevens SJ, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LE, Ahn EY
 タイトル      De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
 雑誌        Am J Hum Genet 99:711-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.029"">10.1016/j.ajhg.2016.06.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27545676"">27545676</a>
 著者        Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Kury S, Besnard T, Isidor B, Latypova X, Bezieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA
 タイトル      De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
 雑誌        Am J Hum Genet 99:720-7 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.035"">10.1016/j.ajhg.2016.06.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27256762"">27256762</a>
 著者        Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K
 タイトル      Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
 雑誌        Am J Med Genet A 170:2587-90 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37761"">10.1002/ajmg.a.37761</a>"
H01770,"黄斑ジストロフィー
 下位グループ    シュタルガルト病 [DS:H00819]
 錐体杆体ジストロフィー [DS:H00481]
 卵黄状黄斑ジストロフィー [DS:H00814]
 X連鎖性若年網膜分離症 [DS:H01766]
 オカルト黄斑ジストロフィー [DS:H01010]
 中心性輪紋状脈絡膜ジストロフィー [DS:H01768]
 模様黄斑ジストロフィー [DS:H01890]",,,The inherited macular dystrophies are characterized by bilateral visual loss and the finding of generally symmetrical macular abnormalities visible either on ophthalmoscopy or on retinal angiographs.,神経系疾患,,,,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: D057826 D008268
 OMIM: 248200 120970 153840 613587 312700 215500","PMID:21834622
 著者        Bitoun P, Pipiras E, Rigaudiere F
 タイトル      Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.
 雑誌        Ophthalmic Genet 33:39-43 (2012)
 DOI:10.3109/13816810.2011.596892
 PMID:23168924
 著者        Liutkeviciene R, Lesauskaite V, Asmoniene V, Gelzinis A, Zaliuniene D, Jasinskas V
 タイトル      Inherited macular dystrophies and differential diagnostics.
 雑誌        Medicina (Kaunas) 48:485-95 (2012)
 PMID:12960208
 著者        Michaelides M, Hunt DM, Moore AT
 タイトル      The genetics of inherited macular dystrophies.
 雑誌        J Med Genet 40:641-50 (2003)
 DOI:10.1136/jmg.40.9.641","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>","黄斑ジストロフィー
 下位グループ    シュタルガルト病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00819"">H00819</a>]
 錐体杆体ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00481"">H00481</a>]
 卵黄状黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00814"">H00814</a>]
 X連鎖性若年網膜分離症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01766"">H01766</a>]
 オカルト黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01010"">H01010</a>]
 中心性輪紋状脈絡膜ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01768"">H01768</a>]
 模様黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01890"">H01890</a>]",The inherited macular dystrophies are characterized by bilateral visual loss and the finding of generally symmetrical macular abnormalities visible either on ophthalmoscopy or on retinal angiographs.,,,,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057826"">D057826</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008268"">D008268</a>
 OMIM: <a href=""https://www.omim.org/entry/248200"">248200</a> <a href=""https://www.omim.org/entry/120970"">120970</a> <a href=""https://www.omim.org/entry/153840"">153840</a> <a href=""https://www.omim.org/entry/613587"">613587</a> <a href=""https://www.omim.org/entry/312700"">312700</a> <a href=""https://www.omim.org/entry/215500"">215500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21834622"">21834622</a>
 著者        Bitoun P, Pipiras E, Rigaudiere F
 タイトル      Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.
 雑誌        Ophthalmic Genet 33:39-43 (2012)
 DOI:<a href=""https://doi.org/10.3109/13816810.2011.596892"">10.3109/13816810.2011.596892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23168924"">23168924</a>
 著者        Liutkeviciene R, Lesauskaite V, Asmoniene V, Gelzinis A, Zaliuniene D, Jasinskas V
 タイトル      Inherited macular dystrophies and differential diagnostics.
 雑誌        Medicina (Kaunas) 48:485-95 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12960208"">12960208</a>
 著者        Michaelides M, Hunt DM, Moore AT
 タイトル      The genetics of inherited macular dystrophies.
 雑誌        J Med Genet 40:641-50 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.9.641"">10.1136/jmg.40.9.641</a>"
H01771,"先天性魚鱗癬
 下位グループ    尋常性魚鱗癬 [DS:H00735]
 X連鎖魚鱗癬 [DS:H00134]
 常染色体劣性遺伝性先天性魚鱗癬 [DS:H00734]
 水疱型先天性魚鱗癬様紅皮症 [DS:H00691]",,,"The ichthyoses represent a large group of cutaneous disorders linked by the common finding of abnormal epidermal differentiation. These disorders are characterized by the cutaneous scaling, which is said to resemble the scales of a fish. Scaling can be localized or generalized and can be associated with a variety of additional cutaneous and/or systemic manifestations. In patients with ichthyosis, the barrier function of the skin is compromised and has a decreased ability to protect against bacterial or chemical assault and to prevent transepidermal water loss. Ichthyosis vulgaris (H00735) is the most frequent type. X-linked ichthyosis (H00134) occurs almost exclusively in boys. Autosomal recessive congenital ichthyosis (H00734) is genetically very heterogeneous and several different genes have been identified. Mutations in keratin genes are the cause of the keratinopathic ichthyoses (H00691), such as epidermolytic ichthyosis.",先天奇形,,,,,,"サリチル酸 [DR:D00097]
 マキサカルシトール [DR:D01098]",,"ICD-11: EC20.0
 ICD-10: Q80
 MeSH: D007057
 OMIM: 146700 308100 242300 113800","PMID:23419760
 著者        Craiglow BG
 タイトル      Ichthyosis in the newborn.
 雑誌        Semin Perinatol 37:26-31 (2013)
 DOI:10.1053/j.semperi.2012.11.001
 PMID:24119255
 著者        Traupe H, Fischer J, Oji V
 タイトル      Nonsyndromic types of ichthyoses - an update.
 雑誌        J Dtsch Dermatol Ges 12:109-21 (2014)
 DOI:10.1111/ddg.12229","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>","先天性魚鱗癬
 下位グループ    尋常性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00735"">H00735</a>]
 X連鎖魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00134"">H00134</a>]
 常染色体劣性遺伝性先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00734"">H00734</a>]
 水疱型先天性魚鱗癬様紅皮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00691"">H00691</a>]","The ichthyoses represent a large group of cutaneous disorders linked by the common finding of abnormal epidermal differentiation. These disorders are characterized by the cutaneous scaling, which is said to resemble the scales of a fish. Scaling can be localized or generalized and can be associated with a variety of additional cutaneous and/or systemic manifestations. In patients with ichthyosis, the barrier function of the skin is compromised and has a decreased ability to protect against bacterial or chemical assault and to prevent transepidermal water loss. Ichthyosis vulgaris (H00735) is the most frequent type. X-linked ichthyosis (H00134) occurs almost exclusively in boys. Autosomal recessive congenital ichthyosis (H00734) is genetically very heterogeneous and several different genes have been identified. Mutations in keratin genes are the cause of the keratinopathic ichthyoses (H00691), such as epidermolytic ichthyosis.",,,,,,"サリチル酸 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00097"">D00097</a>]
 マキサカルシトール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01098"">D01098</a>]",,"ICD-11: EC20.0
 ICD-10: Q80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007057"">D007057</a>
 OMIM: <a href=""https://www.omim.org/entry/146700"">146700</a> <a href=""https://www.omim.org/entry/308100"">308100</a> <a href=""https://www.omim.org/entry/242300"">242300</a> <a href=""https://www.omim.org/entry/113800"">113800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23419760"">23419760</a>
 著者        Craiglow BG
 タイトル      Ichthyosis in the newborn.
 雑誌        Semin Perinatol 37:26-31 (2013)
 DOI:<a href=""https://doi.org/10.1053/j.semperi.2012.11.001"">10.1053/j.semperi.2012.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24119255"">24119255</a>
 著者        Traupe H, Fischer J, Oji V
 タイトル      Nonsyndromic types of ichthyoses - an update.
 雑誌        J Dtsch Dermatol Ges 12:109-21 (2014)
 DOI:<a href=""https://doi.org/10.1111/ddg.12229"">10.1111/ddg.12229</a>"
H01772,"先天性副腎低形成症;
 X連鎖性アジソン病",,,"Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form [DS:H02316], and IMAGE syndrome [DS:H02319]. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. A constant feature of the X-linked AHC is the association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC.",内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,NR0B1 [HSA:190] [KO:K08562],,,,,,"ICD-11: LC80
 ICD-10: E27.4
 MeSH: D000075262
 OMIM: 300200","PMID:12034880
 著者        Lehmann SG, Lalli E, Sassone-Corsi P
 タイトル      X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
 雑誌        Proc Natl Acad Sci U S A 99:8225-30 (2002)
 DOI:10.1073/pnas.122044099
 PMID:26303087
 著者        Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC
 タイトル      DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
 雑誌        Best Pract Res Clin Endocrinol Metab 29:607-19 (2015)
 DOI:10.1016/j.beem.2015.07.004
 PMID:20301604 (drug)
 著者        Achermann JC, Vilain EJ
 タイトル      X-Linked Adrenal Hypoplasia Congenita
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01772"">H01772</a>","先天性副腎低形成症;
 X連鎖性アジソン病","Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02316],"">H02316],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:IMAGE"">IMAGE</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02319]."">H02319].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:If"">If</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:untreated,"">untreated,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adrenal"">adrenal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:insufficiency"">insufficiency</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rapidly"">rapidly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lethal"">lethal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:result"">result</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hyperkalemia,"">hyperkalemia,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acidosis,"">acidosis,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hypoglycemia,"">hypoglycemia,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:shock."">shock.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:A"">A</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:constant"">constant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:feature"">feature</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:AHC"">AHC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:association"">association</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hypogonadotropic"">hypogonadotropic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hypogonadism"">hypogonadism</a> (HHG). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Affected"">Affected</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:males"">males</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:typically"">typically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:delayed"">delayed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:puberty"">puberty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:arrested"">arrested</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:puberty"">puberty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:caused"">caused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HHG."">HHG.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Mutations"">Mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:DAX-1"">DAX-1</a> (NR0B1) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:responsible"">responsible</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:AHC."">AHC.</a>","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","NR0B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:190"">190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08562"">K08562</a>]",,,,,,"ICD-11: LC80
 ICD-10: E27.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000075262"">D000075262</a>
 OMIM: <a href=""https://www.omim.org/entry/300200"">300200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12034880"">12034880</a>
 著者        Lehmann SG, Lalli E, Sassone-Corsi P
 タイトル      X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
 雑誌        Proc Natl Acad Sci U S A 99:8225-30 (2002)
 DOI:<a href=""https://doi.org/10.1073/pnas.122044099"">10.1073/pnas.122044099</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26303087"">26303087</a>
 著者        Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC
 タイトル      DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
 雑誌        Best Pract Res Clin Endocrinol Metab 29:607-19 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2015.07.004"">10.1016/j.beem.2015.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301604"">20301604</a> (drug)
 著者        Achermann JC, Vilain EJ
 タイトル      X-Linked Adrenal Hypoplasia Congenita
 雑誌        GeneReviews (1993)"
H01773,"4p 欠失症候群;
 ウォルフ・ヒルシュホーン症候群",,,"4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome 4p16.3. Because WHS is a contiguous gene deletion syndrome, loss of one copy of a single gene or the synergistic effects of loss of two or more genes could give rise to the features of WHS. The ""Greek warrior helmet appearance"" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Developmental delay and intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children. Other findings include skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Incidence is estimated to be about 1:50.000 births with a 2:1 female: male ratio.",染色体異常,,"CPLX1 [HSA:10815] [KO:K15294]
 CTBP1 [HSA:1487] [KO:K04496]
 FGFRL1 [HSA:53834]
 LETM1 [HSA:3954] [KO:K17800]
 NSD2 [HSA:7468] [KO:K11424]",,,,,,"ICD-11: LD44.41
 ICD-10: Q93.3
 MeSH: D054877
 OMIM: 194190","PMID:26747863
 著者        Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A
 タイトル      Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
 雑誌        J Med Genet 53:256-63 (2016)
 DOI:10.1136/jmedgenet-2015-103626
 PMID:20301362
 著者        Battaglia A, Carey JC, South ST
 タイトル      Wolf-Hirschhorn Syndrome
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01773"">H01773</a>","4p 欠失症候群;
 ウォルフ・ヒルシュホーン症候群","4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome 4p16.3. Because WHS is a contiguous gene deletion syndrome, loss of one copy of a single gene or the synergistic effects of loss of two or more genes could give rise to the features of WHS. The ""Greek warrior helmet appearance"" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Developmental delay and intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children. Other findings include skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Incidence is estimated to be about 1:50.000 births with a 2:1 female: male ratio.",,"CPLX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10815"">10815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15294"">K15294</a>]
 CTBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1487"">1487</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04496"">K04496</a>]
 FGFRL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53834"">53834</a>]
 LETM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3954"">3954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17800"">K17800</a>]
 NSD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7468"">7468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11424"">K11424</a>]",,,,,,"ICD-11: LD44.41
 ICD-10: Q93.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054877"">D054877</a>
 OMIM: <a href=""https://www.omim.org/entry/194190"">194190</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26747863"">26747863</a>
 著者        Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A
 タイトル      Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
 雑誌        J Med Genet 53:256-63 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103626"">10.1136/jmedgenet-2015-103626</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301362"">20301362</a>
 著者        Battaglia A, Carey JC, South ST
 タイトル      Wolf-Hirschhorn Syndrome
 雑誌        GeneReviews (1993)"
H01774,"全身性皮質性骨増殖症;
 Van Buchem 病",,,"Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is an autosomal recessive disease. This disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. VBCH is due to a homozygous deletion of a 52-kb regulatory element 35 kb downstream of the SOST gene, which leads to impaired production of sclerostin. Sclerostin, the gene product of SOST, is an inhibitor of the canonical Wnt signaling pathway. VBCH phenotype can be caused by a mutation in the LRP5 gene.",筋骨格疾患,,"(VBCH) SOST [HSA:50964] [KO:K16834]
 (VBCH2) LRP5 [HSA:4041] [KO:K03068]",,,,,,"ICD-11: FB80.3
 ICD-10: M85.2
 MeSH: D010009 C536527
 OMIM: 239100 607636","PMID:22445802
 著者        van Egmond ME, Dikkers FG, Boot AM, van Lierop AH, Papapoulos SE, Brouwer OF
 タイトル      A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review.
 雑誌        Eur J Paediatr Neurol 16:740-3 (2012)
 DOI:10.1016/j.ejpn.2012.03.002
 PMID:23074140
 著者        van Lierop AH, Hamdy NA, van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE
 タイトル      Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.
 雑誌        J Bone Miner Res 28:848-54 (2013)
 DOI:10.1002/jbmr.1794
 PMID:26751728 (SOST)
 著者        Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E
 タイトル      A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
 雑誌        J Bone Miner Res 31:874-81 (2016)
 DOI:10.1002/jbmr.2782
 PMID:12579474 (LRP5)
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:10.1086/368277","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01774"">H01774</a>","全身性皮質性骨増殖症;
 Van Buchem 病","Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is an autosomal recessive disease. This disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. VBCH is due to a homozygous deletion of a 52-kb regulatory element 35 kb downstream of the SOST gene, which leads to impaired production of sclerostin. Sclerostin, the gene product of SOST, is an inhibitor of the canonical Wnt signaling pathway. VBCH phenotype can be caused by a mutation in the LRP5 gene.",,"(VBCH) SOST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50964"">50964</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16834"">K16834</a>]
 (VBCH2) LRP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4041"">4041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]",,,,,,"ICD-11: FB80.3
 ICD-10: M85.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536527"">C536527</a>
 OMIM: <a href=""https://www.omim.org/entry/239100"">239100</a> <a href=""https://www.omim.org/entry/607636"">607636</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22445802"">22445802</a>
 著者        van Egmond ME, Dikkers FG, Boot AM, van Lierop AH, Papapoulos SE, Brouwer OF
 タイトル      A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review.
 雑誌        Eur J Paediatr Neurol 16:740-3 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2012.03.002"">10.1016/j.ejpn.2012.03.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23074140"">23074140</a>
 著者        van Lierop AH, Hamdy NA, van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE
 タイトル      Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.
 雑誌        J Bone Miner Res 28:848-54 (2013)
 DOI:<a href=""https://doi.org/10.1002/jbmr.1794"">10.1002/jbmr.1794</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26751728"">26751728</a> (SOST)
 著者        Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E
 タイトル      A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
 雑誌        J Bone Miner Res 31:874-81 (2016)
 DOI:<a href=""https://doi.org/10.1002/jbmr.2782"">10.1002/jbmr.2782</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12579474"">12579474</a> (LRP5)
 著者        Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
 タイトル      Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
 雑誌        Am J Hum Genet 72:763-71 (2003)
 DOI:<a href=""https://doi.org/10.1086/368277"">10.1086/368277</a>"
H01775,"PCDH19 関連症候群;
 早期乳児てんかん性脳症９型
 上位グループ    早期乳児てんかん性脳症 [DS:H00606]
 症候性全般てんかん [DS:H00577]",,,"PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively in females. This disorder, first reported as epilepsy and mental retardation limited to females (EMFR) and recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males, suggesting an unusual X-linked inheritance with selective involvement of females. Mutations in the X-chromosome-encoded protocadherin 19 (PCDH19) cause this disorder, and are confirmatory for the diagnosis.",神経系疾患,,PCDH19 [HSA:57526] [KO:K16499],,,,,See also H00606 Ohtahara syndrome.,"ICD-11: 8A61.1Y
 ICD-10: G40.3
 MeSH: C564715
 OMIM: 300088","PMID:22949144
 著者        Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E
 タイトル      Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
 雑誌        Neurogenetics 13:341-5 (2012)
 DOI:10.1007/s10048-012-0342-9
 PMID:22267240
 著者        Depienne C, LeGuern E
 タイトル      PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
 雑誌        Hum Mutat 33:627-34 (2012)
 DOI:10.1002/humu.22029","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01775"">H01775</a>","PCDH19 関連症候群;
 早期乳児てんかん性脳症９型
 上位グループ    早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively in females. This disorder, first reported as epilepsy and mental retardation limited to females (EMFR) and recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males, suggesting an unusual X-linked inheritance with selective involvement of females. Mutations in the X-chromosome-encoded protocadherin 19 (PCDH19) cause this disorder, and are confirmatory for the diagnosis.",,"PCDH19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57526"">57526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16499"">K16499</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a> Ohtahara syndrome.","ICD-11: 8A61.1Y
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564715"">C564715</a>
 OMIM: <a href=""https://www.omim.org/entry/300088"">300088</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22949144"">22949144</a>
 著者        Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E
 タイトル      Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
 雑誌        Neurogenetics 13:341-5 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10048-012-0342-9"">10.1007/s10048-012-0342-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22267240"">22267240</a>
 著者        Depienne C, LeGuern E
 タイトル      PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
 雑誌        Hum Mutat 33:627-34 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22029"">10.1002/humu.22029</a>"
H01776,アイカルディ症候群,,,"Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. Along with agenesis of corpus callosum, typical brain abnormalities include polymicrogyria, periventricular and subcortical heterotopia, intracranial cysts, cerebellar abnormalities, and enlarged cisterna magna. Neurological abnormalities include microcephaly, optic nerve coloboma, developmental delay, mental retardation, intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, XXY, it is assumed to be caused by a de novo mutation on the X chromosome and inherited in a dominant manner with lethality in males.",先天奇形,,,,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: D058540
 OMIM: 304050","PMID:22815034
 著者        Singh P, Goraya JS, Saggar K, Ahluwalia A
 タイトル      Aicardi syndrome.
 雑誌        Singapore Med J 53:e153-5 (2012)
 PMID:25443581
 著者        Lund C, Bjornvold M, Tuft M, Kostov H, Rosby O, Selmer KK
 タイトル      Aicardi syndrome: an epidemiologic and clinical study in Norway.
 雑誌        Pediatr Neurol 52:182-6.e3 (2015)
 DOI:10.1016/j.pediatrneurol.2014.10.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01776"">H01776</a>",アイカルディ症候群,"Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. Along with agenesis of corpus callosum, typical brain abnormalities include polymicrogyria, periventricular and subcortical heterotopia, intracranial cysts, cerebellar abnormalities, and enlarged cisterna magna. Neurological abnormalities include microcephaly, optic nerve coloboma, developmental delay, mental retardation, intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, XXY, it is assumed to be caused by a de novo mutation on the X chromosome and inherited in a dominant manner with lethality in males.",,,,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058540"">D058540</a>
 OMIM: <a href=""https://www.omim.org/entry/304050"">304050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22815034"">22815034</a>
 著者        Singh P, Goraya JS, Saggar K, Ahluwalia A
 タイトル      Aicardi syndrome.
 雑誌        Singapore Med J 53:e153-5 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25443581"">25443581</a>
 著者        Lund C, Bjornvold M, Tuft M, Kostov H, Rosby O, Selmer KK
 タイトル      Aicardi syndrome: an epidemiologic and clinical study in Norway.
 雑誌        Pediatr Neurol 52:182-6.e3 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2014.10.022"">10.1016/j.pediatrneurol.2014.10.022</a>"
H01777,"シュワルツ・ヤンペル症候群
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:H00493]",,,"Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype.",神経系疾患; 筋骨格疾患,,HSPG2 [HSA:3339] [KO:K06255],,,,,"Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype.
 See also H00462 Stuve-Wiedemann syndrome and H00493 Heparan sulfate proteoglycan gene defects.","ICD-11: 8C71.1
 ICD-10: G71.1
 MeSH: D010009
 OMIM: 255800","PMID:27857801
 著者        Polat I, Karaoglu P, Yis U, Kurul SH
 タイトル      Schwartz-Jampel syndrome with gastroduodenal bleeding.
 雑誌        J Pediatr Neurosci 11:255-257 (2016)
 DOI:10.4103/1817-1745.193351
 PMID:16927315
 著者        Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S
 タイトル      Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
 雑誌        Hum Mutat 27:1082-91 (2006)
 DOI:10.1002/humu.20388","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01777"">H01777</a>","シュワルツ・ヤンペル症候群
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00462],"">H00462],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:genetically"">genetically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:distinct"">distinct</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disorder"">disorder</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:more"">more</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:severe"">severe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenotype."">phenotype.</a>",,"HSPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3339"">3339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06255"">K06255</a>]",,,,,"Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00462"">H00462</a> Stuve-Wiedemann syndrome and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a> Heparan sulfate proteoglycan gene defects.","ICD-11: 8C71.1
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/255800"">255800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27857801"">27857801</a>
 著者        Polat I, Karaoglu P, Yis U, Kurul SH
 タイトル      Schwartz-Jampel syndrome with gastroduodenal bleeding.
 雑誌        J Pediatr Neurosci 11:255-257 (2016)
 DOI:<a href=""https://doi.org/10.4103/1817-1745.193351"">10.4103/1817-1745.193351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16927315"">16927315</a>
 著者        Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S
 タイトル      Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
 雑誌        Hum Mutat 27:1082-91 (2006)
 DOI:<a href=""https://doi.org/10.1002/humu.20388"">10.1002/humu.20388</a>"
H01778,"ウルリッヒ病;
 ウルリッヒ型先天性筋ジストロフィー
 上位グループ    6型コラーゲン関連筋疾患 [DS:H01341]
 先天性筋ジストロフィー [DS:H00590]",,,"Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.",神経系疾患; 筋骨格疾患,,"(UCMD1) COL6A1 [HSA:1291] [KO:K06238]
 (UCMD1) COL6A2 [HSA:1292] [KO:K06238]
 (UCMD1) COL6A3 [HSA:1293] [KO:K06238]
 (UCMD2) COL12A1 [HSA:1303] [KO:K08132]",,,,,See also H01341 Collagen VI myopathy.,"ICD-11: 8C70.6
 ICD-10: G71.0
 MeSH: C537521
 OMIM: 254090 616470","PMID:19305075
 著者        Nalini A, Gayathri N, Santosh V
 タイトル      Ullrich congenital muscular dystrophy: report of nine cases from India.
 雑誌        Neurol India 57:41-5 (2009)
 DOI:10.4103/0028-3886.48820
 PMID:15563506 (COL6A1 COL6A2 COL6A3)
 著者        Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR
 タイトル      Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
 雑誌        Hum Mol Genet 14:279-93 (2005)
 DOI:10.1093/hmg/ddi025
 PMID:24334604 (COL12A1)
 著者        Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
 タイトル      Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
 雑誌        Hum Mol Genet 23:2339-52 (2014)
 DOI:10.1093/hmg/ddt627","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01778"">H01778</a>","ウルリッヒ病;
 ウルリッヒ型先天性筋ジストロフィー
 上位グループ    6型コラーゲン関連筋疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.",,"(UCMD1) COL6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1291"">1291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 (UCMD1) COL6A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1292"">1292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 (UCMD1) COL6A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1293"">1293</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06238"">K06238</a>]
 (UCMD2) COL12A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1303"">1303</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08132"">K08132</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a> Collagen VI myopathy.","ICD-11: 8C70.6
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537521"">C537521</a>
 OMIM: <a href=""https://www.omim.org/entry/254090"">254090</a> <a href=""https://www.omim.org/entry/616470"">616470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19305075"">19305075</a>
 著者        Nalini A, Gayathri N, Santosh V
 タイトル      Ullrich congenital muscular dystrophy: report of nine cases from India.
 雑誌        Neurol India 57:41-5 (2009)
 DOI:<a href=""https://doi.org/10.4103/0028-3886.48820"">10.4103/0028-3886.48820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15563506"">15563506</a> (COL6A1 <a href=""https://pubmed.ncbi.nlm.nih.gov/COL6A2"">COL6A2</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/COL6A3)"">COL6A3)</a>
 著者        Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamande SR
 タイトル      Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
 雑誌        Hum Mol Genet 14:279-93 (2005)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddi025"">10.1093/hmg/ddi025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334604"">24334604</a> (COL12A1)
 著者        Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
 タイトル      Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
 雑誌        Hum Mol Genet 23:2339-52 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt627"">10.1093/hmg/ddt627</a>"
H01779,"神経フェリチン症
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:H00833]",,,"Neuroferritinopathy is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.",神経変性疾患,,FTL [HSA:2512] [KO:K13625],,,,,"Neuroferritinopathy belongs to the group of disorders collectively known as neurodegeneration with brain iron accumulation (NBIA).
 See also H00833 Neurodegeneration with brain iron accumulation (NBIA).","ICD-11: 8A01.1Y
 ICD-10: G23.8
 MeSH: C548080
 OMIM: 606159","PMID:27022507
 著者        Kumar N, Rizek P, Jog M
 タイトル      Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
 雑誌        Tremor Other Hyperkinet Mov (N Y) 6:355 (2016)
 DOI:10.7916/D8KK9BHF
 PMID:24825732
 著者        Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M
 タイトル      A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
 雑誌        J Neurol Sci 342:173-7 (2014)
 DOI:10.1016/j.jns.2014.03.060","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01779"">H01779</a>","神経フェリチン症
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>]","Neuroferritinopathy is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.",,"FTL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2512"">2512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13625"">K13625</a>]",,,,,"Neuroferritinopathy belongs to the group of disorders collectively known as neurodegeneration with brain iron accumulation (NBIA).
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a> Neurodegeneration with brain iron accumulation (NBIA).","ICD-11: 8A01.1Y
 ICD-10: G23.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C548080"">C548080</a>
 OMIM: <a href=""https://www.omim.org/entry/606159"">606159</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27022507"">27022507</a>
 著者        Kumar N, Rizek P, Jog M
 タイトル      Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
 雑誌        Tremor Other Hyperkinet Mov (N Y) 6:355 (2016)
 DOI:<a href=""https://doi.org/10.7916/D8KK9BHF"">10.7916/D8KK9BHF</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24825732"">24825732</a>
 著者        Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M
 タイトル      A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
 雑誌        J Neurol Sci 342:173-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2014.03.060"">10.1016/j.jns.2014.03.060</a>"
H01780,"非ジストロフィー性ミオトニー症候群
 下位グループ    先天性ミオトニー [DS:H00705]
 先天性パラミオトニー [DS:H00743]
 ナトリウムチャネルミオトニー [DS:H00744]",,,"Non-dystrophic myotonias are rare diseases caused by mutations in key skeletal muscle ion channels. The major clinical manifestation is muscle stiffness as a consequence of the myotonia. Additional common symptoms include pain, weakness and fatigue. They are considered to be distinct from myotonic dystrophy because of the absence of progressive weakness and systemic features. Non-dystrophic myotonias include myotonia congenita, paramyotonia congenita, and sodium channel myotonias.",神経系疾患; 筋骨格疾患,,"CLCN1 [HSA:1180] [KO:K05010]
 SCN4A [HSA:6329] [KO:K04837]",,,,,,"ICD-11: 8C71.Y
 ICD-10: G71.1
 MeSH: D020967 D009224
 OMIM: 160800 255700 168300 608390","PMID:19917643
 著者        Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG
 タイトル      The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
 雑誌        Brain 133:9-22 (2010)
 DOI:10.1093/brain/awp294
 PMID:23771340
 著者        Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ
 タイトル      Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
 雑誌        Brain 136:2189-200 (2013)
 DOI:10.1093/brain/awt133","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01780"">H01780</a>","非ジストロフィー性ミオトニー症候群
 下位グループ    先天性ミオトニー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00705"">H00705</a>]
 先天性パラミオトニー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00743"">H00743</a>]
 ナトリウムチャネルミオトニー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00744"">H00744</a>]","Non-dystrophic myotonias are rare diseases caused by mutations in key skeletal muscle ion channels. The major clinical manifestation is muscle stiffness as a consequence of the myotonia. Additional common symptoms include pain, weakness and fatigue. They are considered to be distinct from myotonic dystrophy because of the absence of progressive weakness and systemic features. Non-dystrophic myotonias include myotonia congenita, paramyotonia congenita, and sodium channel myotonias.",,"CLCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1180"">1180</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05010"">K05010</a>]
 SCN4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6329"">6329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04837"">K04837</a>]",,,,,,"ICD-11: 8C71.Y
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020967"">D020967</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009224"">D009224</a>
 OMIM: <a href=""https://www.omim.org/entry/160800"">160800</a> <a href=""https://www.omim.org/entry/255700"">255700</a> <a href=""https://www.omim.org/entry/168300"">168300</a> <a href=""https://www.omim.org/entry/608390"">608390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19917643"">19917643</a>
 著者        Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG
 タイトル      The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
 雑誌        Brain 133:9-22 (2010)
 DOI:<a href=""https://doi.org/10.1093/brain/awp294"">10.1093/brain/awp294</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23771340"">23771340</a>
 著者        Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ
 タイトル      Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
 雑誌        Brain 136:2189-200 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt133"">10.1093/brain/awt133</a>"
H01781,自己貪食空胞性ミオパチー,,,"Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized by autophagic vacuoles in which the vacuolar membranes have sarcolemmal features, and include four entities: Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile AVM, and adult onset AVM with multiorgan involvement. Danon disease has been shown to be associated with mutations in the LAMP2 gene located on the X chromosome. XMEA is characterized by weakness and wasting primarily of the proximal muscles of the lower extremities. Mutations in the VMA21 gene at Xq28 cause XMEA by reducing the activity of lysosomal hydrolases.",神経系疾患; 筋骨格疾患,,"LAMP2 [HSA:3920] [KO:K06528]
 VMA21 [HSA:203547] [KO:K23952]",,,,,See also H00150 Danon disease.,"ICD-11: 8C72.Y
 ICD-10: G71.8
 MeSH: D052120 C564093 C536522
 OMIM: 300257 310440 609500","PMID:16640643
 著者        Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A
 タイトル      Autophagic vacuolar myopathy in twin girls.
 雑誌        Neuropathol Appl Neurobiol 32:253-9 (2006)
 DOI:10.1111/j.1365-2990.2006.00691.x
 PMID:25644398
 著者        Dowling JJ, Moore SA, Kalimo H, Minassian BA
 タイトル      X-linked myopathy with excessive autophagy: a failure of self-eating.
 雑誌        Acta Neuropathol 129:383-90 (2015)
 DOI:10.1007/s00401-015-1393-4
 PMID:25817839
 著者        Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA
 タイトル      Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
 雑誌        Neurology 84:1714-6 (2015)
 DOI:10.1212/WNL.0000000000001499","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01781"">H01781</a>",自己貪食空胞性ミオパチー,"Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized by autophagic vacuoles in which the vacuolar membranes have sarcolemmal features, and include four entities: Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile AVM, and adult onset AVM with multiorgan involvement. Danon disease has been shown to be associated with mutations in the LAMP2 gene located on the X chromosome. XMEA is characterized by weakness and wasting primarily of the proximal muscles of the lower extremities. Mutations in the VMA21 gene at Xq28 cause XMEA by reducing the activity of lysosomal hydrolases.",,"LAMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3920"">3920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06528"">K06528</a>]
 VMA21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203547"">203547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23952"">K23952</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00150"">H00150</a> Danon disease.","ICD-11: 8C72.Y
 ICD-10: G71.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D052120"">D052120</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564093"">C564093</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536522"">C536522</a>
 OMIM: <a href=""https://www.omim.org/entry/300257"">300257</a> <a href=""https://www.omim.org/entry/310440"">310440</a> <a href=""https://www.omim.org/entry/609500"">609500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16640643"">16640643</a>
 著者        Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A
 タイトル      Autophagic vacuolar myopathy in twin girls.
 雑誌        Neuropathol Appl Neurobiol 32:253-9 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2990.2006.00691.x"">10.1111/j.1365-2990.2006.00691.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25644398"">25644398</a>
 著者        Dowling JJ, Moore SA, Kalimo H, Minassian BA
 タイトル      X-linked myopathy with excessive autophagy: a failure of self-eating.
 雑誌        Acta Neuropathol 129:383-90 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00401-015-1393-4"">10.1007/s00401-015-1393-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25817839"">25817839</a>
 著者        Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA
 タイトル      Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
 雑誌        Neurology 84:1714-6 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001499"">10.1212/WNL.0000000000001499</a>"
H01782,好酸球性消化管疾患,,,"Eosinophilic gastrointestinal disorder (EGID) is a disorder characterised by eosinophilic infiltration of the gastrointestinal tract. The most common form of EGID is Eosinophilic Esophagitis (EoE). Other forms of EGID include eosinophilic gastritis, eosinophilic enteritis, eosinophilic colitis and eosinophilic gastroenteritis (EGE). While these disorders are less frequent than EoE, their pathogenesis and treatment are probably similar. Clinically, patients with EGID often present with dysphagia, vomiting or abdominal pain. While the etiology remains unclear, there is a well documented association of atopy with EGID. Clinical studies in children and adults have demonstrated an association with food allergy.",免疫系疾患; 消化器系疾患,,,,,,,See also H01361 Eosinophilic esophagitis.,"ICD-10: K20 K52.8
 MeSH: D057765 C535952
 OMIM: 610247 613412","PMID:24813518
 著者        Prussin C
 タイトル      Eosinophilic gastroenteritis and related eosinophilic disorders.
 雑誌        Gastroenterol Clin North Am 43:317-27 (2014)
 DOI:10.1016/j.gtc.2014.02.013
 PMID:22792476
 著者        Jawairia M, Shahzad G, Mustacchia P
 タイトル      Eosinophilic gastrointestinal diseases: review and update.
 雑誌        ISRN Gastroenterol 2012:463689 (2012)
 DOI:10.5402/2012/463689
 PMID:23346427
 著者        Lim DN, Wilkins A, Horton LE, Ahmad I, Lo Polito C, Phillips C
 タイトル      Eosinophilic gastrointestinal disorder in coeliac disease: a case report and review.
 雑誌        Case Rep Gastrointest Med 2012:124275 (2012)
 DOI:10.1155/2012/124275","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01782"">H01782</a>",好酸球性消化管疾患,"Eosinophilic gastrointestinal disorder (EGID) is a disorder characterised by eosinophilic infiltration of the gastrointestinal tract. The most common form of EGID is Eosinophilic Esophagitis (EoE). Other forms of EGID include eosinophilic gastritis, eosinophilic enteritis, eosinophilic colitis and eosinophilic gastroenteritis (EGE). While these disorders are less frequent than EoE, their pathogenesis and treatment are probably similar. Clinically, patients with EGID often present with dysphagia, vomiting or abdominal pain. While the etiology remains unclear, there is a well documented association of atopy with EGID. Clinical studies in children and adults have demonstrated an association with food allergy.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01361"">H01361</a> Eosinophilic esophagitis.","ICD-10: K20 K52.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057765"">D057765</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535952"">C535952</a>
 OMIM: <a href=""https://www.omim.org/entry/610247"">610247</a> <a href=""https://www.omim.org/entry/613412"">613412</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24813518"">24813518</a>
 著者        Prussin C
 タイトル      Eosinophilic gastroenteritis and related eosinophilic disorders.
 雑誌        Gastroenterol Clin North Am 43:317-27 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.gtc.2014.02.013"">10.1016/j.gtc.2014.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22792476"">22792476</a>
 著者        Jawairia M, Shahzad G, Mustacchia P
 タイトル      Eosinophilic gastrointestinal diseases: review and update.
 雑誌        ISRN Gastroenterol 2012:463689 (2012)
 DOI:<a href=""https://doi.org/10.5402/2012/463689"">10.5402/2012/463689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23346427"">23346427</a>
 著者        Lim DN, Wilkins A, Horton LE, Ahmad I, Lo Polito C, Phillips C
 タイトル      Eosinophilic gastrointestinal disorder in coeliac disease: a case report and review.
 雑誌        Case Rep Gastrointest Med 2012:124275 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/124275"">10.1155/2012/124275</a>"
H01783,エプスタイン病,,,"Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied by an enlarged right atrium and a dilated, thinned right ventricle. Ebstein anomaly can occur as a sporadic or a familial defect. It has been reported that deletion 1p36 and deletion 8p23.1 are the most frequent chromosomal structural changes associated with Ebstein anomaly.",先天奇形,,,,Lithium carbonate [CPD:C07964] (during early pregnancy),,,,"ICD-11: LA87.03
 ICD-10: Q22.5
 MeSH: D004437
 OMIM: 224700","PMID:26395651 (env_factor)
 著者        Johnstad CM, Hecker-Fernandes JR, Fernandes R
 タイトル      Ebstein Anomaly: An Overview for Nursing.
 雑誌        J Pediatr Nurs 30:927-30 (2015)
 DOI:10.1016/j.pedn.2015.08.003
 PMID:21815254
 著者        Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B
 タイトル      Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
 雑誌        Am J Med Genet A 155A:2196-202 (2011)
 DOI:10.1002/ajmg.a.34131","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01783"">H01783</a>",エプスタイン病,"Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied by an enlarged right atrium and a dilated, thinned right ventricle. Ebstein anomaly can occur as a sporadic or a familial defect. It has been reported that deletion 1p36 and deletion 8p23.1 are the most frequent chromosomal structural changes associated with Ebstein anomaly.",,,,"Lithium carbonate [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07964"">C07964</a>] (during early pregnancy)",,,,"ICD-11: LA87.03
 ICD-10: Q22.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004437"">D004437</a>
 OMIM: <a href=""https://www.omim.org/entry/224700"">224700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26395651"">26395651</a> (env_factor)
 著者        Johnstad CM, Hecker-Fernandes JR, Fernandes R
 タイトル      Ebstein Anomaly: An Overview for Nursing.
 雑誌        J Pediatr Nurs 30:927-30 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.pedn.2015.08.003"">10.1016/j.pedn.2015.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21815254"">21815254</a>
 著者        Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B
 タイトル      Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
 雑誌        Am J Med Genet A 155A:2196-202 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34131"">10.1002/ajmg.a.34131</a>"
H01784,"原発性高カイロミクロン血症
 下位グループ    高リポタンパク血症 I 型 [DS:H00154]
 高リポタンパク血症 V 型 [DS:H00157]
 上位グループ    脂質異常症 [DS:H01635]",,,"Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to the accumulation of chylomicron occurs in the circulation. The main clinical symptoms of this disorder are the huge increase in plasma trigriceride and cholesterol, and the presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly, and the complication of acute pancreatitis. The genetic basis for primary hyperchylomicronemia is heterogeneous. The familial chylomicronemia (known as Fredrickson's classification of type 1 hyperlipoproteinemia) [DS:H00154] is a clinical condition showing the severest hypertriglyceridemia and is classically represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating inhibitor of lipoprotein lipase and the presence of autoantibodies also cause type 1 hyperlipoproteinemia. More recently, patients with primary hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) or lipase maturation factor 1 (LMF1). By contrast, the more commonly encountered polygenic chylomicronemia of adulthood, referred to as mixed dyslipidemia (known as type 5 hyperlipoproteinemia) [DS:H00157], can present later in life and is characterized by increased levels of hepatically derived triglyceride-rich lipoproteins and triglyceride-rich remnant particles together with reduced levels of HDL cholesterol.",先天代謝異常症; 循環器疾患,,"LPL [HSA:4023] [KO:K01059]
 APOC2 [HSA:344] [KO:K22287]
 GPIHBP1 [HSA:338328] [KO:K20001]
 LMF1 [HSA:64788] [KO:K23555]
 APOA5 [HSA:116519] [KO:K09025]",,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: D006954 D008072
 OMIM: 238600 207750 615947 246650 144650","PMID:22129523 (LPL, APOC2, GPIHBP1, LMF1)
 著者        Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N
 タイトル      Diagnosis and management of type I and type V hyperlipoproteinemia.
 雑誌        J Atheroscler Thromb 19:1-12 (2012)
 DOI:10.5551/jat.10702
 PMID:25732519 (APOC2, GPIHBP1, LMF1, APOA5)
 著者        Brahm AJ, Hegele RA
 タイトル      Chylomicronaemia--current diagnosis and future therapies.
 雑誌        Nat Rev Endocrinol 11:352-62 (2015)
 DOI:10.1038/nrendo.2015.26
 PMID:24205717
 著者        Yamashita S
 タイトル      [Primary hyperchylomicronemia].
 雑誌        Nihon Rinsho 71:1578-83 (2013)
 PMID:10638209
 著者        Iwasaki M, Tada N
 タイトル      [Primary hyperchylomicronemia and gene defects].
 雑誌        Nihon Rinsho 57:2759-64 (1999)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01784"">H01784</a>","原発性高カイロミクロン血症
 下位グループ    高リポタンパク血症 I 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00154"">H00154</a>]
 高リポタンパク血症 V 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00157"">H00157</a>]
 上位グループ    脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to the accumulation of chylomicron occurs in the circulation. The main clinical symptoms of this disorder are the huge increase in plasma trigriceride and cholesterol, and the presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly, and the complication of acute pancreatitis. The genetic basis for primary hyperchylomicronemia is heterogeneous. The familial chylomicronemia (known as Fredrickson's classification of type 1 hyperlipoproteinemia) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00154"">H00154</a>] is a clinical condition showing the severest hypertriglyceridemia and is classically represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating inhibitor of lipoprotein lipase and the presence of autoantibodies also cause type 1 hyperlipoproteinemia. More recently, patients with primary hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) or lipase maturation factor 1 (LMF1). By contrast, the more commonly encountered polygenic chylomicronemia of adulthood, referred to as mixed dyslipidemia (known as type 5 hyperlipoproteinemia) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00157],"">H00157],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:present"">present</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:later"">later</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:life"">life</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:characterized"">characterized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:increased"">increased</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:levels"">levels</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hepatically"">hepatically</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:derived"">derived</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:triglyceride-rich"">triglyceride-rich</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lipoproteins"">lipoproteins</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:triglyceride-rich"">triglyceride-rich</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:remnant"">remnant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:particles"">particles</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:together"">together</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reduced"">reduced</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:levels"">levels</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HDL"">HDL</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cholesterol."">cholesterol.</a>",,"LPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4023"">4023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01059"">K01059</a>]
 APOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:344"">344</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22287"">K22287</a>]
 GPIHBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338328"">338328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20001"">K20001</a>]
 LMF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64788"">64788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23555"">K23555</a>]
 APOA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:116519"">116519</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09025"">K09025</a>]",,,,,,"ICD-11: 5C80.1
 ICD-10: E78.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006954"">D006954</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008072"">D008072</a>
 OMIM: <a href=""https://www.omim.org/entry/238600"">238600</a> <a href=""https://www.omim.org/entry/207750"">207750</a> <a href=""https://www.omim.org/entry/615947"">615947</a> <a href=""https://www.omim.org/entry/246650"">246650</a> <a href=""https://www.omim.org/entry/144650"">144650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22129523"">22129523</a> (LPL, <a href=""https://pubmed.ncbi.nlm.nih.gov/APOC2,"">APOC2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GPIHBP1,"">GPIHBP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LMF1)"">LMF1)</a>
 著者        Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N
 タイトル      Diagnosis and management of type I and type V hyperlipoproteinemia.
 雑誌        J Atheroscler Thromb 19:1-12 (2012)
 DOI:<a href=""https://doi.org/10.5551/jat.10702"">10.5551/jat.10702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25732519"">25732519</a> (APOC2, <a href=""https://pubmed.ncbi.nlm.nih.gov/GPIHBP1,"">GPIHBP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/LMF1,"">LMF1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/APOA5)"">APOA5)</a>
 著者        Brahm AJ, Hegele RA
 タイトル      Chylomicronaemia--current diagnosis and future therapies.
 雑誌        Nat Rev Endocrinol 11:352-62 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2015.26"">10.1038/nrendo.2015.26</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24205717"">24205717</a>
 著者        Yamashita S
 タイトル      [Primary hyperchylomicronemia].
 雑誌        Nihon Rinsho 71:1578-83 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10638209"">10638209</a>
 著者        Iwasaki M, Tada N
 タイトル      [Primary hyperchylomicronemia and gene defects].
 雑誌        Nihon Rinsho 57:2759-64 (1999)"
H01785,三尖弁閉鎖症,,,"Tricuspid atresia is the third most common cyanotic congenital heart defect. It consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. Severe cyanosis associated with diminished pulmonary blood flow is a prominent feature in tricuspid atresia. The malformation brings about high morbidity and mortality, thus requiring the utilization of an adequate surgical technique for its correction. The genetic mechanism responsible of tricuspid atresia is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis.",先天奇形,,,,,,,,"ICD-11: LA89.1
 ICD-10: Q22.4
 MeSH: D018785
 OMIM: 605067","PMID:12163945
 著者        Mastalir ET, Kalil RA, Horowitz ES, Wender O, Sant'Anna JR, Prates PR, Nesralla IA
 タイトル      Late clinical outcomes of the fontan operation in patients with tricuspid atresia.
 雑誌        Arq Bras Cardiol 79:56-60 (2002)
 DOI:10.1590/S0066-782X2002001000006
 PMID:19727322
 著者        Steinhorn RH
 タイトル      Evaluation and management of the cyanotic neonate.
 雑誌        Clin Pediatr Emerg Med 9:169-175 (2008)
 DOI:10.1016/j.cpem.2008.06.006
 PMID:15643620
 著者        Sarkozy A, Conti E, D'Agostino R, Digilio MC, Formigari R, Picchio F, Marino B, Pizzuti A, Dallapiccola B
 タイトル      ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
 雑誌        Am J Med Genet A 133A:68-70 (2005)
 DOI:10.1002/ajmg.a.30534
 PMID:23244255 (drug)
 著者        Guleserian KJ, Barker GM, Sharma MS, Macaluso J, Huang R, Nugent AW, Forbess JM
 タイトル      Bilateral pulmonary artery banding for resuscitation in high-risk, single-ventricle neonates and infants: a single-center experience.
 雑誌        J Thorac Cardiovasc Surg 145:206-13; discussion 213-4 (2013)
 DOI:10.1016/j.jtcvs.2012.09.063","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01785"">H01785</a>",三尖弁閉鎖症,"Tricuspid atresia is the third most common cyanotic congenital heart defect. It consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. Severe cyanosis associated with diminished pulmonary blood flow is a prominent feature in tricuspid atresia. The malformation brings about high morbidity and mortality, thus requiring the utilization of an adequate surgical technique for its correction. The genetic mechanism responsible of tricuspid atresia is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis.",,,,,,,,"ICD-11: LA89.1
 ICD-10: Q22.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018785"">D018785</a>
 OMIM: <a href=""https://www.omim.org/entry/605067"">605067</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12163945"">12163945</a>
 著者        Mastalir ET, Kalil RA, Horowitz ES, Wender O, Sant'Anna JR, Prates PR, Nesralla IA
 タイトル      Late clinical outcomes of the fontan operation in patients with tricuspid atresia.
 雑誌        Arq Bras Cardiol 79:56-60 (2002)
 DOI:<a href=""https://doi.org/10.1590/S0066-782X2002001000006"">10.1590/S0066-782X2002001000006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19727322"">19727322</a>
 著者        Steinhorn RH
 タイトル      Evaluation and management of the cyanotic neonate.
 雑誌        Clin Pediatr Emerg Med 9:169-175 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.cpem.2008.06.006"">10.1016/j.cpem.2008.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15643620"">15643620</a>
 著者        Sarkozy A, Conti E, D'Agostino R, Digilio MC, Formigari R, Picchio F, Marino B, Pizzuti A, Dallapiccola B
 タイトル      ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
 雑誌        Am J Med Genet A 133A:68-70 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30534"">10.1002/ajmg.a.30534</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23244255"">23244255</a> (drug)
 著者        Guleserian KJ, Barker GM, Sharma MS, Macaluso J, Huang R, Nugent AW, Forbess JM
 タイトル      Bilateral pulmonary artery banding for resuscitation in high-risk, single-ventricle neonates and infants: a single-center experience.
 雑誌        J Thorac Cardiovasc Surg 145:206-13; discussion 213-4 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jtcvs.2012.09.063"">10.1016/j.jtcvs.2012.09.063</a>"
H01786,修正大血管転位症,,,"Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by characterised by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic left ventricle and mitral valve supply the pulmonary circulation and the morphologic right ventricle and tricuspid valve supply the systemic circulation. The anatomy is described as congenitally 'corrected' because the flow of blood is normal with the deoxygenated systemic venous blood being pumped to the lungs and the well oxygenated pulmonary venous blood being pumped to the body. More than 90% of patients have additional anatomical abnormalities. The most frequent are ventricular septal defects, left ventricular outflow tract obstruction, and abnormalities of the tricuspid valve.",先天奇形,,,,,,,,"ICD-11: LA85.0
 ICD-10: Q20.5
 MeSH: C535426","PMID:20610462
 著者        Hornung TS, Calder L
 タイトル      Congenitally corrected transposition of the great arteries.
 雑誌        Heart 96:1154-61 (2010)
 DOI:10.1136/hrt.2008.150532
 PMID:14971003
 著者        McEwing RL, Chaoui R
 タイトル      Congenitally corrected transposition of the great arteries: clues for prenatal diagnosis.
 雑誌        Ultrasound Obstet Gynecol 23:68-72 (2004)
 DOI:10.1002/uog.896","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01786"">H01786</a>",修正大血管転位症,"Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by characterised by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic left ventricle and mitral valve supply the pulmonary circulation and the morphologic right ventricle and tricuspid valve supply the systemic circulation. The anatomy is described as congenitally 'corrected' because the flow of blood is normal with the deoxygenated systemic venous blood being pumped to the lungs and the well oxygenated pulmonary venous blood being pumped to the body. More than 90% of patients have additional anatomical abnormalities. The most frequent are ventricular septal defects, left ventricular outflow tract obstruction, and abnormalities of the tricuspid valve.",,,,,,,,"ICD-11: LA85.0
 ICD-10: Q20.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535426"">C535426</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20610462"">20610462</a>
 著者        Hornung TS, Calder L
 タイトル      Congenitally corrected transposition of the great arteries.
 雑誌        Heart 96:1154-61 (2010)
 DOI:<a href=""https://doi.org/10.1136/hrt.2008.150532"">10.1136/hrt.2008.150532</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14971003"">14971003</a>
 著者        McEwing RL, Chaoui R
 タイトル      Congenitally corrected transposition of the great arteries: clues for prenatal diagnosis.
 雑誌        Ultrasound Obstet Gynecol 23:68-72 (2004)
 DOI:<a href=""https://doi.org/10.1002/uog.896"">10.1002/uog.896</a>"
H01787,単心室症,,,"Univentricular heart is a term used to describe a wide variety of structural cardiac abnormalities associated with a functional single ventricular chamber. Truly solitary ventricles are exceedingly rare. It is generally agreed that the atrioventricular connection is central in defining the univentricular heart. More specifically, the well-developed ventricle may be designated left, right, or indeterminate. Clinical manifestations hinge on the presence or absence of pulmonary outflow obstruction. Without pulmonary stenosis, infants with low pulmonary resistance present with signs and symptoms typical of large left-to-right shunting, ie, congestive heart failure and failure-to-thrive. A certain degree of pulmonary stenosis is physiologically desirable to prevent pulmonary overcirculation. However, severe pulmonary stenosis or atresia may result in profound hypoxemia and cyanosis.",先天奇形,,,,,,,,"ICD-11: LA89
 ICD-10: Q20.4","PMID:17296869
 著者        Khairy P, Poirier N, Mercier LA
 タイトル      Univentricular heart.
 雑誌        Circulation 115:800-12 (2007)
 DOI:10.1161/CIRCULATIONAHA.105.592378
 PMID:15985742
 著者        Krishnan U
 タイトル      Univentricular heart: management options.
 雑誌        Indian J Pediatr 72:519-24 (2005)
 DOI:10.1007/BF02724431","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01787"">H01787</a>",単心室症,"Univentricular heart is a term used to describe a wide variety of structural cardiac abnormalities associated with a functional single ventricular chamber. Truly solitary ventricles are exceedingly rare. It is generally agreed that the atrioventricular connection is central in defining the univentricular heart. More specifically, the well-developed ventricle may be designated left, right, or indeterminate. Clinical manifestations hinge on the presence or absence of pulmonary outflow obstruction. Without pulmonary stenosis, infants with low pulmonary resistance present with signs and symptoms typical of large left-to-right shunting, ie, congestive heart failure and failure-to-thrive. A certain degree of pulmonary stenosis is physiologically desirable to prevent pulmonary overcirculation. However, severe pulmonary stenosis or atresia may result in profound hypoxemia and cyanosis.",,,,,,,,"ICD-11: LA89
 ICD-10: Q20.4","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17296869"">17296869</a>
 著者        Khairy P, Poirier N, Mercier LA
 タイトル      Univentricular heart.
 雑誌        Circulation 115:800-12 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.105.592378"">10.1161/CIRCULATIONAHA.105.592378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15985742"">15985742</a>
 著者        Krishnan U
 タイトル      Univentricular heart: management options.
 雑誌        Indian J Pediatr 72:519-24 (2005)
 DOI:<a href=""https://doi.org/10.1007/BF02724431"">10.1007/BF02724431</a>"
H01788,クリッペル・トレノネー・ウェーバー症候群,,,"Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis.",先天奇形,,,,,,,,"ICD-11: LD26.60
 ICD-10: Q87.2
 MeSH: D007715
 OMIM: 149000","PMID:26615353
 著者        Bhat L, Bisht S, Khanijo K
 タイトル      Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis.
 雑誌        Indian Pediatr 52:987-8 (2015)
 DOI:10.1007/s13312-015-0760-5
 PMID:25293688
 著者        Ricks CB, Grandhi R, Ducruet AF
 タイトル      Klippel-Trenaunay syndrome and cavernous malformations.
 雑誌        BMJ Case Rep 2014:bcr2014207486 (2014)
 DOI:10.1136/bcr-2014-207486
 PMID:23799311
 著者        Oduber CE, van Beers EJ, Bresser P, van der Horst CM, Meijers JC, Gerdes VE
 タイトル      Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome.
 雑誌        Neth J Med 71:246-52 (2013)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01788"">H01788</a>",クリッペル・トレノネー・ウェーバー症候群,"Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis.",,,,,,,,"ICD-11: LD26.60
 ICD-10: Q87.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007715"">D007715</a>
 OMIM: <a href=""https://www.omim.org/entry/149000"">149000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26615353"">26615353</a>
 著者        Bhat L, Bisht S, Khanijo K
 タイトル      Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis.
 雑誌        Indian Pediatr 52:987-8 (2015)
 DOI:<a href=""https://doi.org/10.1007/s13312-015-0760-5"">10.1007/s13312-015-0760-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25293688"">25293688</a>
 著者        Ricks CB, Grandhi R, Ducruet AF
 タイトル      Klippel-Trenaunay syndrome and cavernous malformations.
 雑誌        BMJ Case Rep 2014:bcr2014207486 (2014)
 DOI:<a href=""https://doi.org/10.1136/bcr-2014-207486"">10.1136/bcr-2014-207486</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23799311"">23799311</a>
 著者        Oduber CE, van Beers EJ, Bresser P, van der Horst CM, Meijers JC, Gerdes VE
 タイトル      Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome.
 雑誌        Neth J Med 71:246-52 (2013)"
H01789,You-Hoover-Fong 症候群,,,"You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals from four families with intellectual disability and neurological and other congenital abnormalities, suggesting that these TELO2 variants result in loss of function and cause this disease.",先天奇形,,TELO2 [HSA:9894] [KO:K11137],,,,,,"ICD-11: LD20.Y
 OMIM: 616954","PMID:27132593
 著者        You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J
 タイトル      A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
 雑誌        Am J Hum Genet 98:909-18 (2016)
 DOI:10.1016/j.ajhg.2016.03.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01789"">H01789</a>",You-Hoover-Fong 症候群,"You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals from four families with intellectual disability and neurological and other congenital abnormalities, suggesting that these TELO2 variants result in loss of function and cause this disease.",,"TELO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9894"">9894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11137"">K11137</a>]",,,,,,"ICD-11: LD20.Y
 OMIM: <a href=""https://www.omim.org/entry/616954"">616954</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27132593"">27132593</a>
 著者        You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J
 タイトル      A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
 雑誌        Am J Hum Genet 98:909-18 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.014"">10.1016/j.ajhg.2016.03.014</a>"
H01790,"エマヌエル症候群;
 22番過剰派生染色体症候群",,,"Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22.",染色体異常,,,,,,,"In more than 99% of cases, one of the parents of a proband with Emanuel syndrome is a balanced carrier of a t(11;22)(q23;q11.2) and is phenotypically normal.","ICD-11: LD41.Q
 ICD-10: Q92.8
 MeSH: C535733
 OMIM: 609029","PMID:20301440
 著者        Emanuel BS, Zackai EH, Medne L
 タイトル      Emanuel Syndrome
 雑誌        GeneReviews (1993)
 PMID:23691404
 著者        Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS
 タイトル      Derivative 11;22 (emanuel) syndrome: a case report and a review.
 雑誌        Case Rep Pediatr 2013:237935 (2013)
 DOI:10.1155/2013/237935
 PMID:19606488
 著者        Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM
 タイトル      Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
 雑誌        Am J Med Genet A 149A:1712-21 (2009)
 DOI:10.1002/ajmg.a.32957","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01790"">H01790</a>","エマヌエル症候群;
 22番過剰派生染色体症候群","Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22.",,,,,,,"In more than 99% of cases, one of the parents of a proband with Emanuel syndrome is a balanced carrier of a t(11;22)(q23;q11.2) and is phenotypically normal.","ICD-11: LD41.Q
 ICD-10: Q92.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535733"">C535733</a>
 OMIM: <a href=""https://www.omim.org/entry/609029"">609029</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301440"">20301440</a>
 著者        Emanuel BS, Zackai EH, Medne L
 タイトル      Emanuel Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23691404"">23691404</a>
 著者        Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS
 タイトル      Derivative 11;22 (emanuel) syndrome: a case report and a review.
 雑誌        Case Rep Pediatr 2013:237935 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/237935"">10.1155/2013/237935</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19606488"">19606488</a>
 著者        Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM
 タイトル      Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
 雑誌        Am J Med Genet A 149A:1712-21 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32957"">10.1002/ajmg.a.32957</a>"
H01791,スミス・マギニス症候群,,,"Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region.",染色体異常,,RAI1 (haploinsufficiency) [HSA:10743] [KO:K19749],,,,,,"ICD-11: LD44.H1
 ICD-10: Q93.8
 MeSH: D058496
 OMIM: 182290","PMID:18231123
 著者        Elsea SH, Girirajan S
 タイトル      Smith-Magenis syndrome.
 雑誌        Eur J Hum Genet 16:412-21 (2008)
 DOI:10.1038/sj.ejhg.5202009
 PMID:21545756
 著者        Elsea SH, Williams SR
 タイトル      Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
 雑誌        Expert Rev Mol Med 13:e14 (2011)
 DOI:10.1017/S1462399411001827","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01791"">H01791</a>",スミス・マギニス症候群,"Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region.",,"RAI1 (haploinsufficiency) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10743"">10743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19749"">K19749</a>]",,,,,,"ICD-11: LD44.H1
 ICD-10: Q93.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058496"">D058496</a>
 OMIM: <a href=""https://www.omim.org/entry/182290"">182290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18231123"">18231123</a>
 著者        Elsea SH, Girirajan S
 タイトル      Smith-Magenis syndrome.
 雑誌        Eur J Hum Genet 16:412-21 (2008)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5202009"">10.1038/sj.ejhg.5202009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21545756"">21545756</a>
 著者        Elsea SH, Williams SR
 タイトル      Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
 雑誌        Expert Rev Mol Med 13:e14 (2011)
 DOI:<a href=""https://doi.org/10.1017/S1462399411001827"">10.1017/S1462399411001827</a>"
H01792,1p36 欠失症候群,,,"1p36 deletion syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed chin. Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. Other findings include structural brain abnormalities, congenital heart defects, eye/vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities. There is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths.",染色体異常,,,,,,,,"ICD-11: LD44.11
 ICD-10: Q93.5
 MeSH: C535362
 OMIM: 607872","PMID:26345236
 著者        Jordan VK, Zaveri HP, Scott DA
 タイトル      1p36 deletion syndrome: an update.
 雑誌        Appl Clin Genet 8:189-200 (2015)
 DOI:10.2147/TACG.S65698
 PMID:20301370
 著者        Battaglia A
 タイトル      1p36 Deletion Syndrome
 雑誌        GeneReviews (1993)
 PMID:18245432
 著者        Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
 タイトル      Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
 雑誌        Pediatrics 121:404-10 (2008)
 DOI:10.1542/peds.2007-0929","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01792"">H01792</a>",1p36 欠失症候群,"1p36 deletion syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed chin. Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. Other findings include structural brain abnormalities, congenital heart defects, eye/vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities. There is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths.",,,,,,,,"ICD-11: LD44.11
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535362"">C535362</a>
 OMIM: <a href=""https://www.omim.org/entry/607872"">607872</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26345236"">26345236</a>
 著者        Jordan VK, Zaveri HP, Scott DA
 タイトル      1p36 deletion syndrome: an update.
 雑誌        Appl Clin Genet 8:189-200 (2015)
 DOI:<a href=""https://doi.org/10.2147/TACG.S65698"">10.2147/TACG.S65698</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301370"">20301370</a>
 著者        Battaglia A
 タイトル      1p36 Deletion Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18245432"">18245432</a>
 著者        Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
 タイトル      Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
 雑誌        Pediatrics 121:404-10 (2008)
 DOI:<a href=""https://doi.org/10.1542/peds.2007-0929"">10.1542/peds.2007-0929</a>"
H01793,"ヤング・シンプソン症候群
 上位グループ    眼瞼裂狭小・精神遅滞症候群 [DS:H01795]",,,"Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. In 1986, Ohdo described two siblings and their cousin with blepharophimosis, ptosis, congenital heart defects, intellectual disability, and hypoplastic teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar syndrome (GPS) [DS:H01794] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders.",先天奇形,,KAT6B [HSA:23522] [KO:K11306],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 603736","PMID:23236640
 著者        Campeau PM, Lee BH
 タイトル      KAT6B-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:22715153
 著者        Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH
 タイトル      The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
 雑誌        Hum Mutat 33:1520-5 (2012)
 DOI:10.1002/humu.22141
 PMID:27452416
 著者        Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
 タイトル      Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
 雑誌        Clin Genet 91:339-343 (2017)
 DOI:10.1111/cge.12840
 PMID:25424711
 著者        Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J
 タイトル      Further delineation of the KAT6B molecular and phenotypic spectrum.
 雑誌        Eur J Hum Genet 23:1165-70 (2015)
 DOI:10.1038/ejhg.2014.248","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01793"">H01793</a>","ヤング・シンプソン症候群
 上位グループ    眼瞼裂狭小・精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01795"">H01795</a>]","Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. In 1986, Ohdo described two siblings and their cousin with blepharophimosis, ptosis, congenital heart defects, intellectual disability, and hypoplastic teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar syndrome (GPS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01794"">H01794</a>] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders.",,"KAT6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23522"">23522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11306"">K11306</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/603736"">603736</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23236640"">23236640</a>
 著者        Campeau PM, Lee BH
 タイトル      KAT6B-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22715153"">22715153</a>
 著者        Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH
 タイトル      The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
 雑誌        Hum Mutat 33:1520-5 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22141"">10.1002/humu.22141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27452416"">27452416</a>
 著者        Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
 タイトル      Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
 雑誌        Clin Genet 91:339-343 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12840"">10.1111/cge.12840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25424711"">25424711</a>
 著者        Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J
 タイトル      Further delineation of the KAT6B molecular and phenotypic spectrum.
 雑誌        Eur J Hum Genet 23:1165-70 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.248"">10.1038/ejhg.2014.248</a>"
H01794,"Genitopatellar 症候群;
 性器膝蓋骨症候群",,,"Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive facial features, corpus callosum agenesis, and severe intellectual disability. GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) [DS:H01793] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders. In GPS, the overall clinical picture tends to be more severe than in SBBYSS. Features present only in GPS are contractures, anomalies of the spine, ribs and pelvis, renal cysts, hydronephrosis, and agenesis of the corpus callosum. Thyroid abnormalities have been reported in rare cases.",先天奇形,,KAT6B [HSA:23522] [KO:K11306],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 606170","PMID:22265017
 著者        Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC
 タイトル      De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
 雑誌        Am J Hum Genet 90:290-4 (2012)
 DOI:10.1016/j.ajhg.2011.11.024
 PMID:27452416
 著者        Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
 タイトル      Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
 雑誌        Clin Genet 91:339-343 (2017)
 DOI:10.1111/cge.12840
 PMID:25424711
 著者        Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J
 タイトル      Further delineation of the KAT6B molecular and phenotypic spectrum.
 雑誌        Eur J Hum Genet 23:1165-70 (2015)
 DOI:10.1038/ejhg.2014.248
 PMID:22715153
 著者        Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH
 タイトル      The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
 雑誌        Hum Mutat 33:1520-5 (2012)
 DOI:10.1002/humu.22141","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01794"">H01794</a>","Genitopatellar 症候群;
 性器膝蓋骨症候群","Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive facial features, corpus callosum agenesis, and severe intellectual disability. GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01793"">H01793</a>] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders. In GPS, the overall clinical picture tends to be more severe than in SBBYSS. Features present only in GPS are contractures, anomalies of the spine, ribs and pelvis, renal cysts, hydronephrosis, and agenesis of the corpus callosum. Thyroid abnormalities have been reported in rare cases.",,"KAT6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23522"">23522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11306"">K11306</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/606170"">606170</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22265017"">22265017</a>
 著者        Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC
 タイトル      De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
 雑誌        Am J Hum Genet 90:290-4 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.024"">10.1016/j.ajhg.2011.11.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27452416"">27452416</a>
 著者        Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
 タイトル      Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
 雑誌        Clin Genet 91:339-343 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12840"">10.1111/cge.12840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25424711"">25424711</a>
 著者        Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J
 タイトル      Further delineation of the KAT6B molecular and phenotypic spectrum.
 雑誌        Eur J Hum Genet 23:1165-70 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.248"">10.1038/ejhg.2014.248</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22715153"">22715153</a>
 著者        Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH
 タイトル      The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
 雑誌        Hum Mutat 33:1520-5 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22141"">10.1002/humu.22141</a>"
H01795,"眼瞼裂狭小・精神遅滞症候群
 下位グループ    ヤング・シンプソン症候群 [DS:H01793]",,,"Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. The majority of syndromic patients with blepharophimosis show a variable degree of mental retardation. In 1986, Ohdo et al. delineated a syndrome of blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type; (5) BMRS, Verloes type. BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the etiology of BMR disorders.",先天奇形,,"(SBBYS type) KAT6B [HSA:23522] [KO:K11306]
 (MKB type) MED12 [HSA:9968] [KO:K15162]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 613792 603736 300895","PMID:16700052
 著者        Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P
 タイトル      Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
 雑誌        Am J Med Genet A 140:1285-96 (2006)
 DOI:10.1002/ajmg.a.31270
 PMID:21567902
 著者        Dentici ML, Mingarelli R, Dallapiccola B
 タイトル      The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.
 雑誌        Am J Med Genet A 155A:459-65 (2011)
 DOI:10.1002/ajmg.a.33642
 PMID:22077973
 著者        Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G
 タイトル      Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
 雑誌        Am J Hum Genet 89:675-81 (2011)
 DOI:10.1016/j.ajhg.2011.10.008
 PMID:23395478
 著者        Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP
 タイトル      Mutations in MED12 cause X-linked Ohdo syndrome.
 雑誌        Am J Hum Genet 92:401-6 (2013)
 DOI:10.1016/j.ajhg.2013.01.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01795"">H01795</a>","眼瞼裂狭小・精神遅滞症候群
 下位グループ    ヤング・シンプソン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01793"">H01793</a>]","Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. The majority of syndromic patients with blepharophimosis show a variable degree of mental retardation. In 1986, Ohdo et al. delineated a syndrome of blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01793];"">H01793];</a> (4) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BMRS,"">BMRS,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MKB"">MKB</a> (Maat-Kievit-Brunner) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:type;"">type;</a> (5) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BMRS,"">BMRS,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Verloes"">Verloes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:type."">type.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BMR"">BMR</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:relatively"">relatively</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nonspecific"">nonspecific</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:developmental"">developmental</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:anomalies"">anomalies</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:unclassified"">unclassified</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:individuals,"">individuals,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:further"">further</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:widening"">widening</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:etiology"">etiology</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BMR"">BMR</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disorders."">disorders.</a>",,"(SBBYS type) KAT6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23522"">23522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11306"">K11306</a>]
 (MKB type) MED12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9968"">9968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15162"">K15162</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/613792"">613792</a> <a href=""https://www.omim.org/entry/603736"">603736</a> <a href=""https://www.omim.org/entry/300895"">300895</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16700052"">16700052</a>
 著者        Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P
 タイトル      Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
 雑誌        Am J Med Genet A 140:1285-96 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31270"">10.1002/ajmg.a.31270</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21567902"">21567902</a>
 著者        Dentici ML, Mingarelli R, Dallapiccola B
 タイトル      The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.
 雑誌        Am J Med Genet A 155A:459-65 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33642"">10.1002/ajmg.a.33642</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22077973"">22077973</a>
 著者        Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G
 タイトル      Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
 雑誌        Am J Hum Genet 89:675-81 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.008"">10.1016/j.ajhg.2011.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23395478"">23395478</a>
 著者        Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP
 タイトル      Mutations in MED12 cause X-linked Ohdo syndrome.
 雑誌        Am J Hum Genet 92:401-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.01.007"">10.1016/j.ajhg.2013.01.007</a>"
H01796,櫛でとかせない頭髪症候群,,,"Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected cases with autosomal dominant as well as recessive inheritance have been described. Recently, the identification of causative mutations were reported. No proven therapy exists. In the typical case, improvement may occur over time and spontaneous regression has been reported. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected UHS and eliminates other hair abnormalities from the differential diagnosis.",皮膚と軟部組織の疾患,,"(UHS1) PADI3 [HSA:51702] [KO:K01481]
 (UHS2) TGM3 [HSA:7053] [KO:K05620]
 (UHS3) TCHH [HSA:7062] [KO:K18626]",,,,,,"ICD-11: EC21.0
 ICD-10: Q87.8
 MeSH: C536939
 OMIM: 191480 617251 617252","PMID:11407534
 著者        Hicks J, Metry DW, Barrish J, Levy M
 タイトル      Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
 雑誌        Ultrastruct Pathol 25:99-103 (2001)
 DOI:10.1080/01913120117514
 PMID:27866708 (PADI3 TGM3 TCHH)
 著者        U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
 タイトル      Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
 雑誌        Am J Hum Genet 99:1292-1304 (2016)
 DOI:10.1016/j.ajhg.2016.10.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01796"">H01796</a>",櫛でとかせない頭髪症候群,"Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected cases with autosomal dominant as well as recessive inheritance have been described. Recently, the identification of causative mutations were reported. No proven therapy exists. In the typical case, improvement may occur over time and spontaneous regression has been reported. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected UHS and eliminates other hair abnormalities from the differential diagnosis.",,"(UHS1) PADI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51702"">51702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01481"">K01481</a>]
 (UHS2) TGM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7053"">7053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05620"">K05620</a>]
 (UHS3) TCHH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7062"">7062</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18626"">K18626</a>]",,,,,,"ICD-11: EC21.0
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536939"">C536939</a>
 OMIM: <a href=""https://www.omim.org/entry/191480"">191480</a> <a href=""https://www.omim.org/entry/617251"">617251</a> <a href=""https://www.omim.org/entry/617252"">617252</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11407534"">11407534</a>
 著者        Hicks J, Metry DW, Barrish J, Levy M
 タイトル      Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
 雑誌        Ultrastruct Pathol 25:99-103 (2001)
 DOI:<a href=""https://doi.org/10.1080/01913120117514"">10.1080/01913120117514</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27866708"">27866708</a> (PADI3 <a href=""https://pubmed.ncbi.nlm.nih.gov/TGM3"">TGM3</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/TCHH)"">TCHH)</a>
 著者        U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
 タイトル      Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
 雑誌        Am J Hum Genet 99:1292-1304 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.10.004"">10.1016/j.ajhg.2016.10.004</a>"
H01797,Webb-Dattani 症候群,,,"Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment, and abnormalities of the kidneys and urinary tract. A homozygous frameshift mutation in the basic HLH transcription factor ARNT2 has been revealed in affected individuals.",先天奇形,,ARNT2 [HSA:9915] [KO:K15589],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 615926","PMID:24022475
 著者        Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT
 タイトル      ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
 雑誌        Brain 136:3096-105 (2013)
 DOI:10.1093/brain/awt218","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01797"">H01797</a>",Webb-Dattani 症候群,"Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment, and abnormalities of the kidneys and urinary tract. A homozygous frameshift mutation in the basic HLH transcription factor ARNT2 has been revealed in affected individuals.",,"ARNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9915"">9915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15589"">K15589</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/615926"">615926</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24022475"">24022475</a>
 著者        Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT
 タイトル      ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
 雑誌        Brain 136:3096-105 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt218"">10.1093/brain/awt218</a>"
H01798,常染色体優性新生血管炎症性硝子体網膜症,,,"Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an intracellular protease expressed in the retina. In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.",神経系疾患,,CAPN5 [HSA:726] [KO:K08574],,,,,,"ICD-11: 9B78.2
 ICD-10: H35.2
 MeSH: D018630
 OMIM: 193235","PMID:27390515
 著者        Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB
 タイトル      Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
 雑誌        Clin Ophthalmol 10:1187-97 (2016)
 DOI:10.2147/OPTH.S103324
 PMID:1284594
 著者        Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC
 タイトル      Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.
 雑誌        Hum Mol Genet 1:685-9 (1992)
 DOI:10.1093/hmg/1.9.685
 PMID:23055945
 著者        Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM
 タイトル      Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
 雑誌        PLoS Genet 8:e1003001 (2012)
 DOI:10.1371/journal.pgen.1003001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01798"">H01798</a>",常染色体優性新生血管炎症性硝子体網膜症,"Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an intracellular protease expressed in the retina. In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.",,"CAPN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:726"">726</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08574"">K08574</a>]",,,,,,"ICD-11: 9B78.2
 ICD-10: H35.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018630"">D018630</a>
 OMIM: <a href=""https://www.omim.org/entry/193235"">193235</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27390515"">27390515</a>
 著者        Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB
 タイトル      Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
 雑誌        Clin Ophthalmol 10:1187-97 (2016)
 DOI:<a href=""https://doi.org/10.2147/OPTH.S103324"">10.2147/OPTH.S103324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1284594"">1284594</a>
 著者        Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC
 タイトル      Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.
 雑誌        Hum Mol Genet 1:685-9 (1992)
 DOI:<a href=""https://doi.org/10.1093/hmg/1.9.685"">10.1093/hmg/1.9.685</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23055945"">23055945</a>
 著者        Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM
 タイトル      Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
 雑誌        PLoS Genet 8:e1003001 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1003001"">10.1371/journal.pgen.1003001</a>"
H01799,振動性蕁麻疹,,,"Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells.",皮膚と軟部組織の疾患,,ADGRE2 [HSA:30817] [KO:K08443],,,,,,"ICD-11: EB01.Y
 ICD-10: L50.4
 MeSH: C536347
 OMIM: 125630","PMID:5050327
 著者        Patterson R, Mellies CJ, Blankenship ML, Pruzansky JJ
 タイトル      Vibratory angioedema: a hereditary type of physical hypersensitivity.
 雑誌        J Allergy Clin Immunol 50:174-82 (1972)
 DOI:10.1016/0091-6749(72)90048-6
 PMID:26841242
 著者        Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD
 タイトル      Vibratory Urticaria Associated with a Missense Variant in ADGRE2.
 雑誌        N Engl J Med 374:656-63 (2016)
 DOI:10.1056/NEJMoa1500611","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01799"">H01799</a>",振動性蕁麻疹,"Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells.",,"ADGRE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30817"">30817</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08443"">K08443</a>]",,,,,,"ICD-11: EB01.Y
 ICD-10: L50.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536347"">C536347</a>
 OMIM: <a href=""https://www.omim.org/entry/125630"">125630</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5050327"">5050327</a>
 著者        Patterson R, Mellies CJ, Blankenship ML, Pruzansky JJ
 タイトル      Vibratory angioedema: a hereditary type of physical hypersensitivity.
 雑誌        J Allergy Clin Immunol 50:174-82 (1972)
 DOI:<a href=""https://doi.org/10.1016/0091-6749(72)90048-6"">10.1016/0091-6749(72)90048-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26841242"">26841242</a>
 著者        Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD
 タイトル      Vibratory Urticaria Associated with a Missense Variant in ADGRE2.
 雑誌        N Engl J Med 374:656-63 (2016)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1500611"">10.1056/NEJMoa1500611</a>"
H01800,Verheij 症候群,,,"Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.",先天奇形,,PUF60 [HSA:22827] [KO:K12838],,,,,,"ICD-11: LD44.80
 ICD-10: Q87.8
 OMIM: 615583","PMID:19464398
 著者        Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM
 タイトル      An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
 雑誌        Eur J Med Genet 52:353-7 (2009)
 DOI:10.1016/j.ejmg.2009.05.006
 PMID:27804958
 著者        El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Riviere JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hancarova M, Havlovicova M, Prchalova D, Sedlacek Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L
 タイトル      Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
 雑誌        Eur J Hum Genet 25:43-51 (2016)
 DOI:10.1038/ejhg.2016.133
 PMID:28327570
 著者        Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF
 タイトル      PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
 雑誌        Eur J Hum Genet 25:552-559 (2017)
 DOI:10.1038/ejhg.2017.27","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01800"">H01800</a>",Verheij 症候群,"Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.",,"PUF60 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22827"">22827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12838"">K12838</a>]",,,,,,"ICD-11: LD44.80
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/615583"">615583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19464398"">19464398</a>
 著者        Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM
 タイトル      An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
 雑誌        Eur J Med Genet 52:353-7 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2009.05.006"">10.1016/j.ejmg.2009.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27804958"">27804958</a>
 著者        El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Riviere JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hancarova M, Havlovicova M, Prchalova D, Sedlacek Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L
 タイトル      Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
 雑誌        Eur J Hum Genet 25:43-51 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.133"">10.1038/ejhg.2016.133</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28327570"">28327570</a>
 著者        Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF
 タイトル      PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
 雑誌        Eur J Hum Genet 25:552-559 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.27"">10.1038/ejhg.2017.27</a>"
H01801,"第１４番染色体父親性ダイソミー症候群;
 鏡・緒方症候群",,,"Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3, RTL1as (RTL1 antisense) and MEG8, together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR. It has been reported that epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3-DMR, result in paternal uniparental disomy 14 like phenotype. Recently, the name 'Kagami-Ogata syndrome' has been approved for this clinically recognizable disorder.",染色体異常,,,,,,,,"ICD-11: LD45.1
 ICD-10: Q99.8
 MeSH: C536471
 OMIM: 608149","PMID:18176563
 著者        Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T
 タイトル      Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
 雑誌        Nat Genet 40:237-42 (2008)
 DOI:10.1038/ng.2007.56
 PMID:26377239
 著者        Ogata T, Kagami M
 タイトル      Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
 雑誌        J Hum Genet 61:87-94 (2016)
 DOI:10.1038/jhg.2015.113
 PMID:26333487
 著者        Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffre M
 タイトル      Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
 雑誌        Am J Med Genet A 167A:3130-8 (2015)
 DOI:10.1002/ajmg.a.37293","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01801"">H01801</a>","第１４番染色体父親性ダイソミー症候群;
 鏡・緒方症候群","Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3, RTL1as (RTL1 antisense) and MEG8, together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR. It has been reported that epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3-DMR, result in paternal uniparental disomy 14 like phenotype. Recently, the name 'Kagami-Ogata syndrome' has been approved for this clinically recognizable disorder.",,,,,,,,"ICD-11: LD45.1
 ICD-10: Q99.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536471"">C536471</a>
 OMIM: <a href=""https://www.omim.org/entry/608149"">608149</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18176563"">18176563</a>
 著者        Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T
 タイトル      Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
 雑誌        Nat Genet 40:237-42 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.2007.56"">10.1038/ng.2007.56</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26377239"">26377239</a>
 著者        Ogata T, Kagami M
 タイトル      Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
 雑誌        J Hum Genet 61:87-94 (2016)
 DOI:<a href=""https://doi.org/10.1038/jhg.2015.113"">10.1038/jhg.2015.113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26333487"">26333487</a>
 著者        Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffre M
 タイトル      Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
 雑誌        Am J Med Genet A 167A:3130-8 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37293"">10.1002/ajmg.a.37293</a>"
H01802,心室中隔欠損を伴わない肺動脈閉鎖症,,,"Pulmonary atresia with intact ventricular septum (PAIVS) is a severe cardiac malformation characterized by variable right ventricular development and imperforate pulmonary valve. PAIVS has a wide spectrum of clinical presentation ranging from cyanosis to shock due to closure of ductus arteriosus. The treatment follows initial stabilization with prostaglandin and establishment of antegrade flow. Because of the morphologic heterogeneity, repair or palliation strategies vary widely, ranging from single ventricle palliation to complete biventricular repair. Overall, regardless of anatomical subtype, survival is poor, reported to be as low as 50% at 5 years.",先天奇形,,,,,,,,"ICD-11: LA8A.10
 ICD-10: Q25.5
 MeSH: C562832
 OMIM: 265150","PMID:18570204
 著者        Iacobelli R, Pasquini L, Toscano A, Raimondi F, Michielon G, Tozzi AE, Sanders SP
 タイトル      Role of tricuspid regurgitation in fetal echocardiographic diagnosis of pulmonary atresia with intact ventricular septum.
 雑誌        Ultrasound Obstet Gynecol 32:31-5 (2008)
 DOI:10.1002/uog.5356
 PMID:28163422 (drug)
 著者        Bakhru S, Marathe S, Saxena M, Verma S, Saileela R, Dash TK, Koneti NR
 タイトル      Transcatheter pulmonary valve perforation using chronic total occlusion wire in pulmonary atresia with intact ventricular septum.
 雑誌        Ann Pediatr Cardiol 10:5-10 (2017)
 DOI:10.4103/0974-2069.197065
 PMID:22640635
 著者        Alwi M, Budi RR, Mood MC, Leong MC, Samion H
 タイトル      Pulmonary atresia with intact septum: the use of Conquest Pro coronary guidewire for perforation of atretic valve and subsequent interventions.
 雑誌        Cardiol Young 23:197-202 (2013)
 DOI:10.1017/S1047951112000595","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01802"">H01802</a>",心室中隔欠損を伴わない肺動脈閉鎖症,"Pulmonary atresia with intact ventricular septum (PAIVS) is a severe cardiac malformation characterized by variable right ventricular development and imperforate pulmonary valve. PAIVS has a wide spectrum of clinical presentation ranging from cyanosis to shock due to closure of ductus arteriosus. The treatment follows initial stabilization with prostaglandin and establishment of antegrade flow. Because of the morphologic heterogeneity, repair or palliation strategies vary widely, ranging from single ventricle palliation to complete biventricular repair. Overall, regardless of anatomical subtype, survival is poor, reported to be as low as 50% at 5 years.",,,,,,,,"ICD-11: LA8A.10
 ICD-10: Q25.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562832"">C562832</a>
 OMIM: <a href=""https://www.omim.org/entry/265150"">265150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18570204"">18570204</a>
 著者        Iacobelli R, Pasquini L, Toscano A, Raimondi F, Michielon G, Tozzi AE, Sanders SP
 タイトル      Role of tricuspid regurgitation in fetal echocardiographic diagnosis of pulmonary atresia with intact ventricular septum.
 雑誌        Ultrasound Obstet Gynecol 32:31-5 (2008)
 DOI:<a href=""https://doi.org/10.1002/uog.5356"">10.1002/uog.5356</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28163422"">28163422</a> (drug)
 著者        Bakhru S, Marathe S, Saxena M, Verma S, Saileela R, Dash TK, Koneti NR
 タイトル      Transcatheter pulmonary valve perforation using chronic total occlusion wire in pulmonary atresia with intact ventricular septum.
 雑誌        Ann Pediatr Cardiol 10:5-10 (2017)
 DOI:<a href=""https://doi.org/10.4103/0974-2069.197065"">10.4103/0974-2069.197065</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22640635"">22640635</a>
 著者        Alwi M, Budi RR, Mood MC, Leong MC, Samion H
 タイトル      Pulmonary atresia with intact septum: the use of Conquest Pro coronary guidewire for perforation of atretic valve and subsequent interventions.
 雑誌        Cardiol Young 23:197-202 (2013)
 DOI:<a href=""https://doi.org/10.1017/S1047951112000595"">10.1017/S1047951112000595</a>"
H01803,心室中隔欠損を伴う肺動脈閉鎖症,,,"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence of any communication between the right ventricle and the pulmonary arteries. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly in number and site of origin. PA-VSD shares similarities with tetralogy of Fallot (TOF) and has been considered a severe end of the spectrum of TOF. Although surgical interventions have been employed successfully for a number of years, the long-term prognosis has remained poor with an increased incidence of sudden death. An association between conotruncal cardiac abnormalities and 22q11.2 deletion during fetal life has been investigated and reported to occur in 20% of cases of PA-VSD.",先天奇形,,,,,,,"See also H01525 22q11.2 deletion syndrome, and H00549 Tetralogy of Fallot.","ICD-11: LA88.2
 ICD-10: Q21.3
 MeSH: D018633
 OMIM: 178370","PMID:28231853
 著者        Fan C, Yang Y, Xiong L, Yin N, Wu Q, Tang M, Yang J
 タイトル      Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect.
 雑誌        J Cardiothorac Surg 12:12 (2017)
 DOI:10.1186/s13019-017-0578-4
 PMID:23199622
 著者        Fouilloux V, Bonello B, Kammache I, Fraisse A, Mace L, Kreitmann B
 タイトル      Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries.
 雑誌        Arch Cardiovasc Dis 105:666-75 (2012)
 DOI:10.1016/j.acvd.2012.08.003
 PMID:16547205
 著者        Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland GK
 タイトル      Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome.
 雑誌        Heart 92:1501-5 (2006)
 DOI:10.1136/hrt.2005.083295
 PMID:21234191
 著者        Murthy K, Reddy KP, Nagarajan R, Goutami V, Cherian K
 タイトル      Management of ventricular septal defect with pulmonary atresia and major aorto pulmonary collateral arteries: Challenges and controversies.
 雑誌        Ann Pediatr Cardiol 3:127-35 (2010)
 DOI:10.4103/0974-2069.74040
 PMID:25580345
 著者        Kulkarni DV, Hegde RG, Balani A, Joshi AR
 タイトル      A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis.
 雑誌        Case Rep Radiol 2014:614647 (2014)
 DOI:10.1155/2014/614647","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01803"">H01803</a>",心室中隔欠損を伴う肺動脈閉鎖症,"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence of any communication between the right ventricle and the pulmonary arteries. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly in number and site of origin. PA-VSD shares similarities with tetralogy of Fallot (TOF) and has been considered a severe end of the spectrum of TOF. Although surgical interventions have been employed successfully for a number of years, the long-term prognosis has remained poor with an increased incidence of sudden death. An association between conotruncal cardiac abnormalities and 22q11.2 deletion during fetal life has been investigated and reported to occur in 20% of cases of PA-VSD.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01525"">H01525</a> 22q11.2 deletion syndrome, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00549"">H00549</a> Tetralogy of Fallot.","ICD-11: LA88.2
 ICD-10: Q21.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018633"">D018633</a>
 OMIM: <a href=""https://www.omim.org/entry/178370"">178370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28231853"">28231853</a>
 著者        Fan C, Yang Y, Xiong L, Yin N, Wu Q, Tang M, Yang J
 タイトル      Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect.
 雑誌        J Cardiothorac Surg 12:12 (2017)
 DOI:<a href=""https://doi.org/10.1186/s13019-017-0578-4"">10.1186/s13019-017-0578-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23199622"">23199622</a>
 著者        Fouilloux V, Bonello B, Kammache I, Fraisse A, Mace L, Kreitmann B
 タイトル      Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries.
 雑誌        Arch Cardiovasc Dis 105:666-75 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.acvd.2012.08.003"">10.1016/j.acvd.2012.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16547205"">16547205</a>
 著者        Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland GK
 タイトル      Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome.
 雑誌        Heart 92:1501-5 (2006)
 DOI:<a href=""https://doi.org/10.1136/hrt.2005.083295"">10.1136/hrt.2005.083295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21234191"">21234191</a>
 著者        Murthy K, Reddy KP, Nagarajan R, Goutami V, Cherian K
 タイトル      Management of ventricular septal defect with pulmonary atresia and major aorto pulmonary collateral arteries: Challenges and controversies.
 雑誌        Ann Pediatr Cardiol 3:127-35 (2010)
 DOI:<a href=""https://doi.org/10.4103/0974-2069.74040"">10.4103/0974-2069.74040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25580345"">25580345</a>
 著者        Kulkarni DV, Hegde RG, Balani A, Joshi AR
 タイトル      A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis.
 雑誌        Case Rep Radiol 2014:614647 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/614647"">10.1155/2014/614647</a>"
H01804,アイザックス症候群,,,"Isaacs syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyper excitability. Symptoms commonly include myokymia, pseudomyotonia, muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Recent evidences suggest that autoantibodies against voltage-gated potassium channels (VGKC-Abs) are associated with this disease. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange.",神経系疾患; 筋骨格疾患,,,,,,,,"ICD-11: 8C71.4
 ICD-10: G71.1
 MeSH: D020386","PMID:25301428
 著者        Lide B, Singh J, Haeri S
 タイトル      Isaacs' syndrome in pregnancy.
 雑誌        BMJ Case Rep 2014:bcr2014206704 (2014)
 DOI:10.1136/bcr-2014-206704
 PMID:18801496
 著者        Takahashi H, Mori M, Sekiguchi Y, Misawa S, Sawai S, Hattori T, Kuwabara S
 タイトル      Development of Isaacs' syndrome following complete recovery of voltage-gated potassium channel antibody-associated limbic encephalitis.
 雑誌        J Neurol Sci 275:185-7 (2008)
 DOI:10.1016/j.jns.2008.07.034
 PMID:21144646 (drug)
 著者        Meyniel C, Ollivier Y, Hamidou M, Pereon Y, Derkinderen P
 タイトル      Dramatic improvement of refractory Isaacs' syndrome after treatment with dronabinol.
 雑誌        Clin Neurol Neurosurg 113:323-4 (2011)
 DOI:10.1016/j.clineuro.2010.11.006
 PMID:21577108 (drug)
 著者        Panzer J, Dalmau J
 タイトル      Movement disorders in paraneoplastic and autoimmune disease.
 雑誌        Curr Opin Neurol 24:346-53 (2011)
 DOI:10.1097/WCO.0b013e328347b307","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01804"">H01804</a>",アイザックス症候群,"Isaacs syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyper excitability. Symptoms commonly include myokymia, pseudomyotonia, muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Recent evidences suggest that autoantibodies against voltage-gated potassium channels (VGKC-Abs) are associated with this disease. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange.",,,,,,,,"ICD-11: 8C71.4
 ICD-10: G71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020386"">D020386</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25301428"">25301428</a>
 著者        Lide B, Singh J, Haeri S
 タイトル      Isaacs' syndrome in pregnancy.
 雑誌        BMJ Case Rep 2014:bcr2014206704 (2014)
 DOI:<a href=""https://doi.org/10.1136/bcr-2014-206704"">10.1136/bcr-2014-206704</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18801496"">18801496</a>
 著者        Takahashi H, Mori M, Sekiguchi Y, Misawa S, Sawai S, Hattori T, Kuwabara S
 タイトル      Development of Isaacs' syndrome following complete recovery of voltage-gated potassium channel antibody-associated limbic encephalitis.
 雑誌        J Neurol Sci 275:185-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2008.07.034"">10.1016/j.jns.2008.07.034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21144646"">21144646</a> (drug)
 著者        Meyniel C, Ollivier Y, Hamidou M, Pereon Y, Derkinderen P
 タイトル      Dramatic improvement of refractory Isaacs' syndrome after treatment with dronabinol.
 雑誌        Clin Neurol Neurosurg 113:323-4 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.clineuro.2010.11.006"">10.1016/j.clineuro.2010.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21577108"">21577108</a> (drug)
 著者        Panzer J, Dalmau J
 タイトル      Movement disorders in paraneoplastic and autoimmune disease.
 雑誌        Curr Opin Neurol 24:346-53 (2011)
 DOI:<a href=""https://doi.org/10.1097/WCO.0b013e328347b307"">10.1097/WCO.0b013e328347b307</a>"
H01805,Tricho-hepato-enteric 症候群,,,"Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. Infants are born small for gestational age. Patients present with facial dysmorphism, immune disorders and, in some patients, early onset of severe liver cirrhosis. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin supplementation.",先天奇形,,"(THES1) SKIC3 [HSA:9652] [KO:K12600]
 (THES2) SKIC2 [HSA:6499] [KO:K12599]",,,,,,"ICD-11: DA90.0
 MeSH: C565627
 OMIM: 222470 614602","PMID:23302111
 著者        Fabre A, Martinez-Vinson C, Goulet O, Badens C
 タイトル      Syndromic diarrhea/Tricho-hepato-enteric syndrome.
 雑誌        Orphanet J Rare Dis 8:5 (2013)
 DOI:10.1186/1750-1172-8-5
 PMID:24108068
 著者        Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C
 タイトル      Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
 雑誌        Arch Dis Child 99:35-8 (2014)
 DOI:10.1136/archdischild-2013-304016
 PMID:18304370
 著者        Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cezard JP
 タイトル      Syndromic (phenotypic) diarrhea in early infancy.
 雑誌        Orphanet J Rare Dis 3:6 (2008)
 DOI:10.1186/1750-1172-3-6
 PMID:25976726
 著者        Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK
 タイトル      Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
 雑誌        Eur J Pediatr 174:1405-11 (2015)
 DOI:10.1007/s00431-015-2563-z
 PMID:20176027 (SKIC3)
 著者        Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER
 タイトル      Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
 雑誌        Gastroenterology 138:2388-98, 2398.e1-2 (2010)
 DOI:10.1053/j.gastro.2010.02.010
 PMID:22444670 (SKIC2)
 著者        Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C
 タイトル      SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
 雑誌        Am J Hum Genet 90:689-92 (2012)
 DOI:10.1016/j.ajhg.2012.02.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01805"">H01805</a>",Tricho-hepato-enteric 症候群,"Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. Infants are born small for gestational age. Patients present with facial dysmorphism, immune disorders and, in some patients, early onset of severe liver cirrhosis. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin supplementation.",,"(THES1) SKIC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9652"">9652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12600"">K12600</a>]
 (THES2) SKIC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6499"">6499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12599"">K12599</a>]",,,,,,"ICD-11: DA90.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565627"">C565627</a>
 OMIM: <a href=""https://www.omim.org/entry/222470"">222470</a> <a href=""https://www.omim.org/entry/614602"">614602</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23302111"">23302111</a>
 著者        Fabre A, Martinez-Vinson C, Goulet O, Badens C
 タイトル      Syndromic diarrhea/Tricho-hepato-enteric syndrome.
 雑誌        Orphanet J Rare Dis 8:5 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-5"">10.1186/1750-1172-8-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24108068"">24108068</a>
 著者        Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C
 タイトル      Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
 雑誌        Arch Dis Child 99:35-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/archdischild-2013-304016"">10.1136/archdischild-2013-304016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18304370"">18304370</a>
 著者        Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cezard JP
 タイトル      Syndromic (phenotypic) diarrhea in early infancy.
 雑誌        Orphanet J Rare Dis 3:6 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-6"">10.1186/1750-1172-3-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25976726"">25976726</a>
 著者        Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK
 タイトル      Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
 雑誌        Eur J Pediatr 174:1405-11 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00431-015-2563-z"">10.1007/s00431-015-2563-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20176027"">20176027</a> (SKIC3)
 著者        Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER
 タイトル      Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
 雑誌        Gastroenterology 138:2388-98, 2398.e1-2 (2010)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2010.02.010"">10.1053/j.gastro.2010.02.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22444670"">22444670</a> (SKIC2)
 著者        Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C
 タイトル      SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
 雑誌        Am J Hum Genet 90:689-92 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.009"">10.1016/j.ajhg.2012.02.009</a>"
H01806,Tenorio 症候群,,,"Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502]. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways.",先天奇形,,RNF125 [HSA:54941] [KO:K12170],,,,,,"ICD-11: LD2C
 OMIM: 616260","PMID:25196541
 著者        Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P
 タイトル      A new overgrowth syndrome is due to mutations in RNF125.
 雑誌        Hum Mutat 35:1436-41 (2014)
 DOI:10.1002/humu.22689","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01806"">H01806</a>",Tenorio 症候群,"Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01502]."">H01502].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Mutations"">Mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RNF125,"">RNF125,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encoding"">encoding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:E3"">E3</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ubiquitin"">ubiquitin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ligase,"">ligase,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients."">patients.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:demonstrated"">demonstrated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RNF125"">RNF125</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:result"">result</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:loss"">loss</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:function"">function</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RNF125"">RNF125</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dysregulation"">dysregulation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RIG-I-IPS1,"">RIG-I-IPS1,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PI3K-AKT,"">PI3K-AKT,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:interferon"">interferon</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pathways."">pathways.</a>",,"RNF125 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54941"">54941</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12170"">K12170</a>]",,,,,,"ICD-11: LD2C
 OMIM: <a href=""https://www.omim.org/entry/616260"">616260</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25196541"">25196541</a>
 著者        Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P
 タイトル      A new overgrowth syndrome is due to mutations in RNF125.
 雑誌        Hum Mutat 35:1436-41 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22689"">10.1002/humu.22689</a>"
H01807,神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症,,,"Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation of axonal spheroids are the pathological hallmark of HDLS. It has been reported that mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause this disease. CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain.",神経変性疾患,,"(HDLS1) CSF1R [HSA:1436] [KO:K05090]
 (HDLS2) AARS1 [HSA:16] [KO:K01872]",,,,,,"ICD-11: 8A44.3
 ICD-10: G93.4
 MeSH: C580150
 OMIM: 221820 601065","PMID:27338940
 著者        Stabile C, Taglia I, Battisti C, Bianchi S, Federico A
 タイトル      Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.
 雑誌        Neurol Sci 37:1565-9 (2016)
 DOI:10.1007/s10072-016-2634-6
 PMID:22197934 (CSF1R)
 著者        Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK
 タイトル      Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
 雑誌        Nat Genet 44:200-5 (2011)
 DOI:10.1038/ng.1027
 PMID:31775912 (AARS1)
 著者        Sundal C, Carmona S, Yhr M, Almstrom O, Ljungberg M, Hardy J, Hedberg-Oldfors C, Fred A, Bras J, Oldfors A, Andersen O, Guerreiro R
 タイトル      An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
 雑誌        Acta Neuropathol Commun 7:188 (2019)
 DOI:10.1186/s40478-019-0843-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01807"">H01807</a>",神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症,"Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation of axonal spheroids are the pathological hallmark of HDLS. It has been reported that mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause this disease. CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain.",,"(HDLS1) CSF1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1436"">1436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05090"">K05090</a>]
 (HDLS2) AARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:16"">16</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: G93.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580150"">C580150</a>
 OMIM: <a href=""https://www.omim.org/entry/221820"">221820</a> <a href=""https://www.omim.org/entry/601065"">601065</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27338940"">27338940</a>
 著者        Stabile C, Taglia I, Battisti C, Bianchi S, Federico A
 タイトル      Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.
 雑誌        Neurol Sci 37:1565-9 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10072-016-2634-6"">10.1007/s10072-016-2634-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22197934"">22197934</a> (CSF1R)
 著者        Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK
 タイトル      Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
 雑誌        Nat Genet 44:200-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.1027"">10.1038/ng.1027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31775912"">31775912</a> (AARS1)
 著者        Sundal C, Carmona S, Yhr M, Almstrom O, Ljungberg M, Hardy J, Hedberg-Oldfors C, Fred A, Bras J, Oldfors A, Andersen O, Guerreiro R
 タイトル      An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
 雑誌        Acta Neuropathol Commun 7:188 (2019)
 DOI:<a href=""https://doi.org/10.1186/s40478-019-0843-y"">10.1186/s40478-019-0843-y</a>"
H01808,片側痙攣・片麻痺・てんかん症候群,,,"Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migraine and manifesting the S218L mutation in CACNA1A were reported to experience severe attacks with unilateral cerebral edema after trivial head trauma. It has shown that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mechanisms may underlie these two disorders.",神経系疾患,,CACNA1A [HSA:773] [KO:K04344],,,,,See also H00775 Familial or sporadic hemiplegic migraine.,"ICD-11: 8A62.Y
 ICD-10: G40.5","PMID:22341151
 著者        Auvin S, Bellavoine V, Merdariu D, Delanoe C, Elmaleh-Berges M, Gressens P, Boespflug-Tanguy O
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.
 雑誌        Eur J Paediatr Neurol 16:413-21 (2012)
 DOI:10.1016/j.ejpn.2012.01.007
 PMID:24614781 (drug)
 著者        Bhat RY, Kakkar S, Prakashini K
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl.
 雑誌        BMJ Case Rep 2014:bcr2013203482 (2014)
 DOI:10.1136/bcr-2013-203482
 PMID:21824570
 著者        Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.
 雑誌        Pediatr Neurol 45:193-6 (2011)
 DOI:10.1016/j.pediatrneurol.2011.04.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01808"">H01808</a>",片側痙攣・片麻痺・てんかん症候群,"Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migraine and manifesting the S218L mutation in CACNA1A were reported to experience severe attacks with unilateral cerebral edema after trivial head trauma. It has shown that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mechanisms may underlie these two disorders.",,"CACNA1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:773"">773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04344"">K04344</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00775"">H00775</a> Familial or sporadic hemiplegic migraine.","ICD-11: 8A62.Y
 ICD-10: G40.5","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22341151"">22341151</a>
 著者        Auvin S, Bellavoine V, Merdariu D, Delanoe C, Elmaleh-Berges M, Gressens P, Boespflug-Tanguy O
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.
 雑誌        Eur J Paediatr Neurol 16:413-21 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2012.01.007"">10.1016/j.ejpn.2012.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24614781"">24614781</a> (drug)
 著者        Bhat RY, Kakkar S, Prakashini K
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl.
 雑誌        BMJ Case Rep 2014:bcr2013203482 (2014)
 DOI:<a href=""https://doi.org/10.1136/bcr-2013-203482"">10.1136/bcr-2013-203482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21824570"">21824570</a>
 著者        Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y
 タイトル      Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.
 雑誌        Pediatr Neurol 45:193-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2011.04.010"">10.1016/j.pediatrneurol.2011.04.010</a>"
H01809,スタージ・ウェーバー症候群,,,"Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata, and angioma of the eye (leading to glaucoma). The clinical course is highly variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. Although patients with a PWS plus leptomeningeal involvement alone are generally diagnosed as having SWS, those with a facial PWS and glaucoma alone are usually classified separately or considered as having partial SWS. Leptomeningeal and choroidal vascular anomalies have also been described in the absence of a PWS and may represent another partial variant of SWS. A somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both skin and brain). This gene encodes the Q-class G protein alpha-subunit, activation of which increases MAPK signaling. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option.",神経系疾患; 循環器疾患,,GNAQ [HSA:2776] [KO:K04634],,,,,,"ICD-11: LD23
 ICD-10: Q85.8
 MeSH: D013341
 OMIM: 185300","PMID:26706016 (description, drug)
 著者        Comi A
 タイトル      Current Therapeutic Options in Sturge-Weber Syndrome.
 雑誌        Semin Pediatr Neurol 22:295-301 (2015)
 DOI:10.1016/j.spen.2015.10.005
 PMID:24275166
 著者        Sudarsanam A, Ardern-Holmes SL
 タイトル      Sturge-Weber syndrome: from the past to the present.
 雑誌        Eur J Paediatr Neurol 18:257-66 (2014)
 DOI:10.1016/j.ejpn.2013.10.003
 PMID:26903185
 著者        Chernoff KA, Schaffer JV
 タイトル      Cutaneous and ocular manifestations of neurocutaneous syndromes.
 雑誌        Clin Dermatol 34:183-204 (2016)
 DOI:10.1016/j.clindermatol.2015.11.003
 PMID:23656586
 著者        Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J
 タイトル      Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
 雑誌        N Engl J Med 368:1971-9 (2013)
 DOI:10.1056/NEJMoa1213507","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01809"">H01809</a>",スタージ・ウェーバー症候群,"Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata, and angioma of the eye (leading to glaucoma). The clinical course is highly variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. Although patients with a PWS plus leptomeningeal involvement alone are generally diagnosed as having SWS, those with a facial PWS and glaucoma alone are usually classified separately or considered as having partial SWS. Leptomeningeal and choroidal vascular anomalies have also been described in the absence of a PWS and may represent another partial variant of SWS. A somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both skin and brain). This gene encodes the Q-class G protein alpha-subunit, activation of which increases MAPK signaling. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option.",,"GNAQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2776"">2776</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04634"">K04634</a>]",,,,,,"ICD-11: LD23
 ICD-10: Q85.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013341"">D013341</a>
 OMIM: <a href=""https://www.omim.org/entry/185300"">185300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26706016"">26706016</a> (description, <a href=""https://pubmed.ncbi.nlm.nih.gov/drug)"">drug)</a>
 著者        Comi A
 タイトル      Current Therapeutic Options in Sturge-Weber Syndrome.
 雑誌        Semin Pediatr Neurol 22:295-301 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2015.10.005"">10.1016/j.spen.2015.10.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24275166"">24275166</a>
 著者        Sudarsanam A, Ardern-Holmes SL
 タイトル      Sturge-Weber syndrome: from the past to the present.
 雑誌        Eur J Paediatr Neurol 18:257-66 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ejpn.2013.10.003"">10.1016/j.ejpn.2013.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26903185"">26903185</a>
 著者        Chernoff KA, Schaffer JV
 タイトル      Cutaneous and ocular manifestations of neurocutaneous syndromes.
 雑誌        Clin Dermatol 34:183-204 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2015.11.003"">10.1016/j.clindermatol.2015.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23656586"">23656586</a>
 著者        Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J
 タイトル      Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
 雑誌        N Engl J Med 368:1971-9 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1213507"">10.1056/NEJMoa1213507</a>"
H01810,"先天性ミオパチー
 下位グループ    ネマリンミオパチー [DS:H00698]
 セントラルコア病 [DS:H00699]
 中心核ミオパチー [DS:H00700]
 先天性筋線維タイプ不均等症 [DS:H00701]
 マルチミニコア病 [DS:H01310]
 Compton-North 先天性ミオパチー (MYPCN)
 速筋 (II型) 線維萎縮を伴う先天性ミオパチー (MYOFTA)
 横隔膜異常、呼吸不全および顔異形を伴う先天性ミオパチー (MYODRIF)
 コア構造とZ線異常を伴う先天性ミオパチー (MYOCOZ)
 振戦を伴う先天性ミオパチー (MYOTREM)
 脊柱側弯症を伴う進行性先天性ミオパチー (MYOSCO)
 ミニコア異常を伴う先天性近位型ミオパチー (MYOPMIL)
 ニューロパチーと難聴を伴う先天性ミオパチー (CMND)",,,"The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant histopathological features which include nemaline rods, central cores, multiple minicores, central nuclei, and selective hypotrophy of type 1 fibres. Based on these features, individual congenital myopathies such as nemaline myopathy, central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies.",神経系疾患; 筋骨格疾患,,"(MYPCN) CNTN1 [HSA:1272] [KO:K06759]
 (MYOFTA) MYL1 [HSA:4632] [KO:K05738]
 (MYODRIF) MYOD1 [HSA:4654] [KO:K09064]
 (MYOCOZ) ACTN2 [HSA:88] [KO:K21073]
 (MYOTREM) MYBPC1 [HSA:4604] [KO:K12557]
 (MYOSCO) PAX7 [HSA:5081] [KO:K09381]
 (MYOPMIL) FXR1 [HSA:8087] [KO:K15516]
 (CMND) SPTBN4 [HSA:57731] [KO:K06115]",,,,,,"ICD-11: 8C72
 ICD-10: G71.2
 MeSH: D020914
 OMIM: 612540 618414 618975 618654 618578 618823 617519","PMID:24456932
 著者        North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bonnemann CG
 タイトル      Approach to the diagnosis of congenital myopathies.
 雑誌        Neuromuscul Disord 24:97-116 (2014)
 DOI:10.1016/j.nmd.2013.11.003
 PMID:23394784
 著者        Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F
 タイトル      Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
 雑誌        Neuromuscul Disord 23:195-205 (2013)
 DOI:10.1016/j.nmd.2013.01.004
 PMID:19026398
 著者        Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN
 タイトル      Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
 雑誌        Am J Hum Genet 83:714-24 (2008)
 DOI:10.1016/j.ajhg.2008.10.022
 PMID:30215711
 著者        Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullee H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F
 タイトル      Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
 雑誌        Hum Mol Genet 27:4263-4272 (2018)
 DOI:10.1093/hmg/ddy320
 PMID:26733463
 著者        Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A
 タイトル      Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
 雑誌        J Med Genet 53:264-9 (2016)
 DOI:10.1136/jmedgenet-2015-103620
 PMID:30701273
 著者        Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bonnemann CG, Gupta VA, Fardeau M, Bohm J, Laporte J
 タイトル      ACTN2 mutations cause ""Multiple structured Core Disease"" (MsCD).
 雑誌        Acta Neuropathol 137:501-519 (2019)
 DOI:10.1007/s00401-019-01963-8
 PMID:31264822
 著者        Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A
 タイトル      Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
 雑誌        Hum Mutat 40:1115-1126 (2019)
 DOI:10.1002/humu.23760
 PMID:31092906
 著者        Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schols L, Michaud JL, Campeau PM, Haack TB, Dumont NA
 タイトル      Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
 雑誌        Genet Med 21:2521-2531 (2019)
 DOI:10.1038/s41436-019-0532-z
 PMID:30770808
 著者        Estan MC, Fernandez-Nunez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bonnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL
 タイトル      Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
 雑誌        Nat Commun 10:797 (2019)
 DOI:10.1038/s41467-019-08548-9
 PMID:29861105
 著者        Wang CC, Ortiz-Gonzalez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN
 タイトル      betaIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
 雑誌        Am J Hum Genet 102:1158-1168 (2018)
 DOI:10.1016/j.ajhg.2018.04.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01810"">H01810</a>","先天性ミオパチー
 下位グループ    ネマリンミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00698"">H00698</a>]
 セントラルコア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00699"">H00699</a>]
 中心核ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00700"">H00700</a>]
 先天性筋線維タイプ不均等症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00701"">H00701</a>]
 マルチミニコア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01310"">H01310</a>]
 Compton-North 先天性ミオパチー (MYPCN)
 速筋 (II型) 線維萎縮を伴う先天性ミオパチー (MYOFTA)
 横隔膜異常、呼吸不全および顔異形を伴う先天性ミオパチー (MYODRIF)
 コア構造とZ線異常を伴う先天性ミオパチー (MYOCOZ)
 振戦を伴う先天性ミオパチー (MYOTREM)
 脊柱側弯症を伴う進行性先天性ミオパチー (MYOSCO)
 ミニコア異常を伴う先天性近位型ミオパチー (MYOPMIL)
 ニューロパチーと難聴を伴う先天性ミオパチー (CMND)","The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant histopathological features which include nemaline rods, central cores, multiple minicores, central nuclei, and selective hypotrophy of type 1 fibres. Based on these features, individual congenital myopathies such as nemaline myopathy, central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies.",,"(MYPCN) CNTN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1272"">1272</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06759"">K06759</a>]
 (MYOFTA) MYL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4632"">4632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05738"">K05738</a>]
 (MYODRIF) MYOD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4654"">4654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09064"">K09064</a>]
 (MYOCOZ) ACTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:88"">88</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21073"">K21073</a>]
 (MYOTREM) MYBPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4604"">4604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12557"">K12557</a>]
 (MYOSCO) PAX7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5081"">5081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09381"">K09381</a>]
 (MYOPMIL) FXR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8087"">8087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15516"">K15516</a>]
 (CMND) SPTBN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57731"">57731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06115"">K06115</a>]",,,,,,"ICD-11: 8C72
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020914"">D020914</a>
 OMIM: <a href=""https://www.omim.org/entry/612540"">612540</a> <a href=""https://www.omim.org/entry/618414"">618414</a> <a href=""https://www.omim.org/entry/618975"">618975</a> <a href=""https://www.omim.org/entry/618654"">618654</a> <a href=""https://www.omim.org/entry/618578"">618578</a> <a href=""https://www.omim.org/entry/618823"">618823</a> <a href=""https://www.omim.org/entry/617519"">617519</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24456932"">24456932</a>
 著者        North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bonnemann CG
 タイトル      Approach to the diagnosis of congenital myopathies.
 雑誌        Neuromuscul Disord 24:97-116 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2013.11.003"">10.1016/j.nmd.2013.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23394784"">23394784</a>
 著者        Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F
 タイトル      Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
 雑誌        Neuromuscul Disord 23:195-205 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2013.01.004"">10.1016/j.nmd.2013.01.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19026398"">19026398</a>
 著者        Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN
 タイトル      Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
 雑誌        Am J Hum Genet 83:714-24 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.10.022"">10.1016/j.ajhg.2008.10.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30215711"">30215711</a>
 著者        Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullee H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F
 タイトル      Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
 雑誌        Hum Mol Genet 27:4263-4272 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy320"">10.1093/hmg/ddy320</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26733463"">26733463</a>
 著者        Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A
 タイトル      Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
 雑誌        J Med Genet 53:264-9 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103620"">10.1136/jmedgenet-2015-103620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30701273"">30701273</a>
 著者        Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bonnemann CG, Gupta VA, Fardeau M, Bohm J, Laporte J
 タイトル      ACTN2 mutations cause ""Multiple structured Core Disease"" (MsCD).
 雑誌        Acta Neuropathol 137:501-519 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00401-019-01963-8"">10.1007/s00401-019-01963-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31264822"">31264822</a>
 著者        Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A
 タイトル      Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
 雑誌        Hum Mutat 40:1115-1126 (2019)
 DOI:<a href=""https://doi.org/10.1002/humu.23760"">10.1002/humu.23760</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31092906"">31092906</a>
 著者        Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schols L, Michaud JL, Campeau PM, Haack TB, Dumont NA
 タイトル      Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
 雑誌        Genet Med 21:2521-2531 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0532-z"">10.1038/s41436-019-0532-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30770808"">30770808</a>
 著者        Estan MC, Fernandez-Nunez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bonnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL
 タイトル      Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
 雑誌        Nat Commun 10:797 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-08548-9"">10.1038/s41467-019-08548-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29861105"">29861105</a>
 著者        Wang CC, Ortiz-Gonzalez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN
 タイトル      betaIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
 雑誌        Am J Hum Genet 102:1158-1168 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.04.012"">10.1016/j.ajhg.2018.04.012</a>"
H01811,有馬症候群,,,"Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares clinical and neuroradiological features with Joubert syndrome and related disorders, that is called ciliopathy. On brain magnetic resonance imaging (MRI), AS shows characteristic anomalies of the brainstem and cerebellum, such as the molar tooth sign (deformity of the brainstem isthmus and superior cerebellar peduncles) and cerebellar vermis hypoplasia.",先天奇形,,CEP290 [HSA:80184] [KO:K16533],,,,,"See also H00530 Joubert syndrome, H00538 Senior-Loken syndrome, and H01001 COACH syndrome.","ICD-11: LD20.0Y
 ICD-10: Q04.3
 MeSH: C537430
 OMIM: 243910","PMID:23845172
 著者        Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M
 タイトル      Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.
 雑誌        Brain Dev 36:388-93 (2014)
 DOI:10.1016/j.braindev.2013.06.005
 PMID:20728296
 著者        Takahashi K, Oka A, Mizuguchi M, Saitoh M, Takita J, Sato A, Mimaki M, Kato M, Ogawa S, Igarashi T
 タイトル      Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
 雑誌        Brain Dev 33:353-6 (2011)
 DOI:10.1016/j.braindev.2010.06.014
 PMID:20301500
 著者        Parisi M, Glass I
 タイトル      Joubert Syndrome and Related Disorders
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01811"">H01811</a>",有馬症候群,"Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares clinical and neuroradiological features with Joubert syndrome and related disorders, that is called ciliopathy. On brain magnetic resonance imaging (MRI), AS shows characteristic anomalies of the brainstem and cerebellum, such as the molar tooth sign (deformity of the brainstem isthmus and superior cerebellar peduncles) and cerebellar vermis hypoplasia.",,"CEP290 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80184"">80184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16533"">K16533</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00530"">H00530</a> Joubert syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00538"">H00538</a> Senior-Loken syndrome, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01001"">H01001</a> COACH syndrome.","ICD-11: LD20.0Y
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537430"">C537430</a>
 OMIM: <a href=""https://www.omim.org/entry/243910"">243910</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23845172"">23845172</a>
 著者        Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M
 タイトル      Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.
 雑誌        Brain Dev 36:388-93 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2013.06.005"">10.1016/j.braindev.2013.06.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20728296"">20728296</a>
 著者        Takahashi K, Oka A, Mizuguchi M, Saitoh M, Takita J, Sato A, Mimaki M, Kato M, Ogawa S, Igarashi T
 タイトル      Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
 雑誌        Brain Dev 33:353-6 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2010.06.014"">10.1016/j.braindev.2010.06.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301500"">20301500</a>
 著者        Parisi M, Glass I
 タイトル      Joubert Syndrome and Related Disorders
 雑誌        GeneReviews (1993)"
H01812,"ラスムッセン脳炎;
 ラスムッセン症候群",,,"Rasmussen encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. It predominantly affects children, with the onset in adults having a milder course. Infection occurring around two weeks prior to onset is observed in 38% of the patients. There is evidence of autoimmune involvement in the pathogenesis. The immunopathology of this disease is attributed mainly to activated cytotoxic T cells. It has been reported that genetic variations of immunoregulatory genes associated with Rasmussen syndrome.",免疫系疾患; 神経系疾患,,"CTLA4 (polymorphism) [HSA:1493] [KO:K06538]
 PDCD1 (polymorphism) [HSA:5133] [KO:K06744]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G04.8
 MeSH: D004660","PMID:24457189
 著者        Varadkar S, Bien CG, Kruse CA, Jensen FE, Bauer J, Pardo CA, Vincent A, Mathern GW, Cross JH
 タイトル      Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances.
 雑誌        Lancet Neurol 13:195-205 (2014)
 DOI:10.1016/S1474-4422(13)70260-6
 PMID:21686702
 著者        Quesada CM, Urbach H, Elger CE, Bien CG
 タイトル      Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient.
 雑誌        BMJ Case Rep 2009:bcr08.2008.0648 (2009)
 DOI:10.1136/bcr.08.2008.0648
 PMID:19615863 (drug)
 著者        Bien CG, Schramm J
 タイトル      Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma.
 雑誌        Epilepsy Res 86:101-12 (2009)
 DOI:10.1016/j.eplepsyres.2009.06.001
 PMID:24269013
 著者        Takahashi Y, Mogami Y, Mine J, Imai K, Koide Y, Matsuda K, Akasaka N, Konishi T, Imamura A, Inoue Y
 タイトル      Genetic variations of immunoregulatory genes associated with Rasmussen syndrome.
 雑誌        Epilepsy Res 107:238-43 (2013)
 DOI:10.1016/j.eplepsyres.2013.09.004
 PMID:12458050 (marker)
 著者        Mantegazza R, Bernasconi P, Baggi F, Spreafico R, Ragona F, Antozzi C, Bernardi G, Granata T
 タイトル      Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures.
 雑誌        J Neuroimmunol 131:179-85 (2002)
 DOI:10.1016/S0165-5728(02)00261-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01812"">H01812</a>","ラスムッセン脳炎;
 ラスムッセン症候群","Rasmussen encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. It predominantly affects children, with the onset in adults having a milder course. Infection occurring around two weeks prior to onset is observed in 38% of the patients. There is evidence of autoimmune involvement in the pathogenesis. The immunopathology of this disease is attributed mainly to activated cytotoxic T cells. It has been reported that genetic variations of immunoregulatory genes associated with Rasmussen syndrome.",,"CTLA4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]
 PDCD1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5133"">5133</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06744"">K06744</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G04.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004660"">D004660</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24457189"">24457189</a>
 著者        Varadkar S, Bien CG, Kruse CA, Jensen FE, Bauer J, Pardo CA, Vincent A, Mathern GW, Cross JH
 タイトル      Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances.
 雑誌        Lancet Neurol 13:195-205 (2014)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(13)70260-6"">10.1016/S1474-4422(13)70260-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21686702"">21686702</a>
 著者        Quesada CM, Urbach H, Elger CE, Bien CG
 タイトル      Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient.
 雑誌        BMJ Case Rep 2009:bcr08.2008.0648 (2009)
 DOI:<a href=""https://doi.org/10.1136/bcr.08.2008.0648"">10.1136/bcr.08.2008.0648</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19615863"">19615863</a> (drug)
 著者        Bien CG, Schramm J
 タイトル      Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma.
 雑誌        Epilepsy Res 86:101-12 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2009.06.001"">10.1016/j.eplepsyres.2009.06.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24269013"">24269013</a>
 著者        Takahashi Y, Mogami Y, Mine J, Imai K, Koide Y, Matsuda K, Akasaka N, Konishi T, Imamura A, Inoue Y
 タイトル      Genetic variations of immunoregulatory genes associated with Rasmussen syndrome.
 雑誌        Epilepsy Res 107:238-43 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2013.09.004"">10.1016/j.eplepsyres.2013.09.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12458050"">12458050</a> (marker)
 著者        Mantegazza R, Bernasconi P, Baggi F, Spreafico R, Ragona F, Antozzi C, Bernardi G, Granata T
 タイトル      Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures.
 雑誌        J Neuroimmunol 131:179-85 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0165-5728(02)00261-8"">10.1016/S0165-5728(02)00261-8</a>"
H01813,"レノックス・ガストー症候群
 上位グループ    早期乳児てんかん性脳症 [DS:H00606]
 症候性全般てんかん [DS:H00577]",,,"Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures during sleep are the feature often used as the foundation for diagnosis. LGS is characterized by multiple concurrent seizure types, including tonic, atypical absence seizures, atonic, and myoclonic jerks. Non-convulsive status epilepticus, lasting days to weeks, occurs in half of patients. The etiology of LGS is heterogeneous and includes both genetic and acquired causes. LGS most commonly first manifests in children between 3 and 5 years of age, but onset can also occur at younger and older ages. It has been reported that 20-36% of children diagnosed with LGS syndrome have a history of West syndrome.",神経系疾患,,MAPK10 [HSA:5602] [KO:K04440],,,,"ルフィナミド [DR:D05775]
 ラモトリギン [DR:D00354]",,"ICD-11: 8A62.1
 ICD-10: G40.4
 MeSH: D065768
 OMIM: 606369","PMID:25284032
 著者        Bourgeois BF, Douglass LM, Sankar R
 タイトル      Lennox-Gastaut syndrome: a consensus approach to differential diagnosis.
 雑誌        Epilepsia 55 Suppl 4:4-9 (2014)
 DOI:10.1111/epi.12567
 PMID:19589458
 著者        You SJ, Kim HD, Kang HC
 タイトル      Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome.
 雑誌        Pediatr Neurol 41:111-3 (2009)
 DOI:10.1016/j.pediatrneurol.2009.03.006
 PMID:24614520
 著者        Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK
 タイトル      CHD2 mutations in Lennox-Gastaut syndrome.
 雑誌        Epilepsy Behav 33:18-21 (2014)
 DOI:10.1016/j.yebeh.2014.02.005
 PMID:16249883
 著者        Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM
 タイトル      Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
 雑誌        Hum Genet 118:559-67 (2006)
 DOI:10.1007/s00439-005-0084-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01813"">H01813</a>","レノックス・ガストー症候群
 上位グループ    早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures during sleep are the feature often used as the foundation for diagnosis. LGS is characterized by multiple concurrent seizure types, including tonic, atypical absence seizures, atonic, and myoclonic jerks. Non-convulsive status epilepticus, lasting days to weeks, occurs in half of patients. The etiology of LGS is heterogeneous and includes both genetic and acquired causes. LGS most commonly first manifests in children between 3 and 5 years of age, but onset can also occur at younger and older ages. It has been reported that 20-36% of children diagnosed with LGS syndrome have a history of West syndrome.",,"MAPK10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5602"">5602</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04440"">K04440</a>]",,,,"ルフィナミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05775"">D05775</a>]
 ラモトリギン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00354"">D00354</a>]",,"ICD-11: 8A62.1
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065768"">D065768</a>
 OMIM: <a href=""https://www.omim.org/entry/606369"">606369</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25284032"">25284032</a>
 著者        Bourgeois BF, Douglass LM, Sankar R
 タイトル      Lennox-Gastaut syndrome: a consensus approach to differential diagnosis.
 雑誌        Epilepsia 55 Suppl 4:4-9 (2014)
 DOI:<a href=""https://doi.org/10.1111/epi.12567"">10.1111/epi.12567</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19589458"">19589458</a>
 著者        You SJ, Kim HD, Kang HC
 タイトル      Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome.
 雑誌        Pediatr Neurol 41:111-3 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2009.03.006"">10.1016/j.pediatrneurol.2009.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24614520"">24614520</a>
 著者        Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK
 タイトル      CHD2 mutations in Lennox-Gastaut syndrome.
 雑誌        Epilepsy Behav 33:18-21 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.yebeh.2014.02.005"">10.1016/j.yebeh.2014.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16249883"">16249883</a>
 著者        Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM
 タイトル      Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
 雑誌        Hum Genet 118:559-67 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-0084-y"">10.1007/s00439-005-0084-y</a>"
H01814,Stromme 症候群,,,"Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. Although ocular anomalies and intestinal atresia seemed to be consistent features of the syndromic phenotype, phenotypic variabilities in the patients have been reported.",先天奇形,,CENPF [HSA:1063] [KO:K11499],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C565460
 OMIM: 243605","PMID:26820108
 著者        Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Rosby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Stromme P
 タイトル      Stromme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
 雑誌        Hum Mutat 37:359-63 (2016)
 DOI:10.1002/humu.22960
 PMID:28407396
 著者        Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H
 タイトル      A further family of Stromme syndrome carrying CENPF mutation.
 雑誌        Am J Med Genet A 173:1668-1672 (2017)
 DOI:10.1002/ajmg.a.38173
 PMID:20219704
 著者        Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P
 タイトル      Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome.
 雑誌        Eur J Med Genet 53:149-52 (2010)
 DOI:10.1016/j.ejmg.2010.02.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01814"">H01814</a>",Stromme 症候群,"Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. Although ocular anomalies and intestinal atresia seemed to be consistent features of the syndromic phenotype, phenotypic variabilities in the patients have been reported.",,"CENPF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1063"">1063</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11499"">K11499</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565460"">C565460</a>
 OMIM: <a href=""https://www.omim.org/entry/243605"">243605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26820108"">26820108</a>
 著者        Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Rosby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Stromme P
 タイトル      Stromme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
 雑誌        Hum Mutat 37:359-63 (2016)
 DOI:<a href=""https://doi.org/10.1002/humu.22960"">10.1002/humu.22960</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28407396"">28407396</a>
 著者        Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H
 タイトル      A further family of Stromme syndrome carrying CENPF mutation.
 雑誌        Am J Med Genet A 173:1668-1672 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38173"">10.1002/ajmg.a.38173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20219704"">20219704</a>
 著者        Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P
 タイトル      Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome.
 雑誌        Eur J Med Genet 53:149-52 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.02.005"">10.1016/j.ejmg.2010.02.005</a>"
H01815,"遊走性焦点発作を伴う乳児てんかん
 上位グループ    早期乳児てんかん性脳症 [DS:H00606]
 症候性全般てんかん [DS:H00577]",,,"Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.",神経系疾患,,"PLCB1 [HSA:23236] [KO:K05858]
 TBC1D24 [HSA:57465] [KO:K21841]
 KCNT1 [HSA:57582] [KO:K04946]
 SLC12A5 [HSA:57468] [KO:K23967]
 SCN1A [HSA:6323] [KO:K04833]",,,,,,"ICD-11: 8A61.12
 ICD-10: G40.1
 OMIM: 613722 614959 615338 616645","PMID:22690784
 著者        Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stodberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV
 タイトル      Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
 雑誌        Epilepsia 53:e146-50 (2012)
 DOI:10.1111/j.1528-1167.2012.03538.x
 PMID:23086397
 著者        Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
 タイトル      De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
 雑誌        Nat Genet 44:1255-9 (2012)
 DOI:10.1038/ng.2441
 PMID:23526554
 著者        Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
 タイトル      Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
 雑誌        Hum Mutat 34:869-72 (2013)
 DOI:10.1002/humu.22318
 PMID:26333769
 著者        Stodberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiold S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA
 タイトル      Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
 雑誌        Nat Commun 6:8038 (2015)
 DOI:10.1038/ncomms9038","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01815"">H01815</a>","遊走性焦点発作を伴う乳児てんかん
 上位グループ    早期乳児てんかん性脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.",,"PLCB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23236"">23236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05858"">K05858</a>]
 TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]
 KCNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57582"">57582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04946"">K04946</a>]
 SLC12A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57468"">57468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23967"">K23967</a>]
 SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]",,,,,,"ICD-11: 8A61.12
 ICD-10: G40.1
 OMIM: <a href=""https://www.omim.org/entry/613722"">613722</a> <a href=""https://www.omim.org/entry/614959"">614959</a> <a href=""https://www.omim.org/entry/615338"">615338</a> <a href=""https://www.omim.org/entry/616645"">616645</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22690784"">22690784</a>
 著者        Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stodberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV
 タイトル      Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
 雑誌        Epilepsia 53:e146-50 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2012.03538.x"">10.1111/j.1528-1167.2012.03538.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23086397"">23086397</a>
 著者        Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
 タイトル      De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
 雑誌        Nat Genet 44:1255-9 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2441"">10.1038/ng.2441</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23526554"">23526554</a>
 著者        Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
 タイトル      Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
 雑誌        Hum Mutat 34:869-72 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22318"">10.1002/humu.22318</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26333769"">26333769</a>
 著者        Stodberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiold S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA
 タイトル      Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
 雑誌        Nat Commun 6:8038 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms9038"">10.1038/ncomms9038</a>"
H01816,Frank-ter Haar 症候群,,,"Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, small chin, bowing of the long bones, and flexion deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated with Melnick-Needles syndrome. However the autosomal recessive pattern of inheritance and congenital cardiac defects distinguished the syndrome as a separate entity.",先天奇形,,SH3PXD2B [HSA:285590] [KO:K24032],,,,,See also H00456.,"ICD-11: LD25.1
 ICD-10: Q87.8
 MeSH: C537274
 OMIM: 249420","PMID:23140272
 著者        Bendon CL, Fenwick AL, Hurst JA, Nurnberg G, Nurnberg P, Wall SA, Wilkie AO, Johnson D
 タイトル      Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
 雑誌        BMC Med Genet 13:104 (2012)
 DOI:10.1186/1471-2350-13-104
 PMID:15523657
 著者        Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC
 タイトル      Further delineation of Frank-ter Haar syndrome.
 雑誌        Am J Med Genet A 131:127-33 (2004)
 DOI:10.1002/ajmg.a.30244
 PMID:22037860
 著者        Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV
 タイトル      Frank-Ter Haar syndrome in a newborn.
 雑誌        Indian J Pediatr 79:1091-3 (2012)
 DOI:10.1007/s12098-011-0599-2
 PMID:20137777
 著者        Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millan JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H
 タイトル      Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
 雑誌        Am J Hum Genet 86:254-61 (2010)
 DOI:10.1016/j.ajhg.2010.01.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01816"">H01816</a>",Frank-ter Haar 症候群,"Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, small chin, bowing of the long bones, and flexion deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated with Melnick-Needles syndrome. However the autosomal recessive pattern of inheritance and congenital cardiac defects distinguished the syndrome as a separate entity.",,"SH3PXD2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285590"">285590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24032"">K24032</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00456."">H00456.</a>","ICD-11: LD25.1
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537274"">C537274</a>
 OMIM: <a href=""https://www.omim.org/entry/249420"">249420</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23140272"">23140272</a>
 著者        Bendon CL, Fenwick AL, Hurst JA, Nurnberg G, Nurnberg P, Wall SA, Wilkie AO, Johnson D
 タイトル      Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
 雑誌        BMC Med Genet 13:104 (2012)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-13-104"">10.1186/1471-2350-13-104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15523657"">15523657</a>
 著者        Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC
 タイトル      Further delineation of Frank-ter Haar syndrome.
 雑誌        Am J Med Genet A 131:127-33 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30244"">10.1002/ajmg.a.30244</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22037860"">22037860</a>
 著者        Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV
 タイトル      Frank-Ter Haar syndrome in a newborn.
 雑誌        Indian J Pediatr 79:1091-3 (2012)
 DOI:<a href=""https://doi.org/10.1007/s12098-011-0599-2"">10.1007/s12098-011-0599-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137777"">20137777</a>
 著者        Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millan JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H
 タイトル      Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
 雑誌        Am J Hum Genet 86:254-61 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.009"">10.1016/j.ajhg.2010.01.009</a>"
H01817,Beukes 型股関節形成不全,,,"Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition is unique in that the underlying dysplasia and subsequent osteoarthritis are confined to the hip joint. Identification of a mutation in UFSP2 has been reported.",先天奇形,,UFSP2 [HSA:55325] [KO:K01376],,,,,,"ICD-11: LB74
 ICD-10: Q65.8
 MeSH: C564185
 OMIM: 142669","PMID:26428751
 著者        Watson CM, Crinnion LA, Gleghorn L, Newman WG, Ramesar R, Beighton P, Wallis GA
 タイトル      Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
 雑誌        S Afr Med J 105:558-63 (2015)
 DOI:10.7196/SAMJnew.7917
 PMID:2389793
 著者        Cilliers HJ, Beighton P
 タイトル      Beukes familial hip dysplasia: an autosomal dominant entity.
 雑誌        Am J Med Genet 36:386-90 (1990)
 DOI:10.1002/ajmg.1320360403","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01817"">H01817</a>",Beukes 型股関節形成不全,"Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition is unique in that the underlying dysplasia and subsequent osteoarthritis are confined to the hip joint. Identification of a mutation in UFSP2 has been reported.",,"UFSP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55325"">55325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01376"">K01376</a>]",,,,,,"ICD-11: LB74
 ICD-10: Q65.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564185"">C564185</a>
 OMIM: <a href=""https://www.omim.org/entry/142669"">142669</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26428751"">26428751</a>
 著者        Watson CM, Crinnion LA, Gleghorn L, Newman WG, Ramesar R, Beighton P, Wallis GA
 タイトル      Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
 雑誌        S Afr Med J 105:558-63 (2015)
 DOI:<a href=""https://doi.org/10.7196/SAMJnew.7917"">10.7196/SAMJnew.7917</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2389793"">2389793</a>
 著者        Cilliers HJ, Beighton P
 タイトル      Beukes familial hip dysplasia: an autosomal dominant entity.
 雑誌        Am J Med Genet 36:386-90 (1990)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320360403"">10.1002/ajmg.1320360403</a>"
H01818,"ドラベ症候群
 上位グループ    症候性全般てんかん [DS:H00577]
 熱性けいれん [DS:H00783]",,,"The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.",神経系疾患,,SCN1A [HSA:6323] [KO:K04833],,,,スチリペントール [DR:D05928],See also H00606 Early infantile epileptic encephalopathy.,"ICD-11: 8A61.11
 ICD-10: G40.4
 MeSH: D004831
 OMIM: 607208","PMID:21463272
 著者        Dravet C
 タイトル      The core Dravet syndrome phenotype.
 雑誌        Epilepsia 52 Suppl 2:3-9 (2011)
 DOI:10.1111/j.1528-1167.2011.02994.x
 PMID:19589774
 著者        Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC
 タイトル      De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
 雑誌        J Med Genet 47:137-41 (2010)
 DOI:10.1136/jmg.2008.065912
 PMID:18424028 (drug)
 著者        Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
 タイトル      Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan.
 雑誌        Brain Dev 30:629-35 (2008)
 DOI:10.1016/j.braindev.2008.03.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01818"">H01818</a>","ドラベ症候群
 上位グループ    症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]
 熱性けいれん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00783"">H00783</a>]","The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.",,"SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]",,,,"スチリペントール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05928"">D05928</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a> Early infantile epileptic encephalopathy.","ICD-11: 8A61.11
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004831"">D004831</a>
 OMIM: <a href=""https://www.omim.org/entry/607208"">607208</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21463272"">21463272</a>
 著者        Dravet C
 タイトル      The core Dravet syndrome phenotype.
 雑誌        Epilepsia 52 Suppl 2:3-9 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2011.02994.x"">10.1111/j.1528-1167.2011.02994.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19589774"">19589774</a>
 著者        Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC
 タイトル      De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
 雑誌        J Med Genet 47:137-41 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.065912"">10.1136/jmg.2008.065912</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18424028"">18424028</a> (drug)
 著者        Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
 タイトル      Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan.
 雑誌        Brain Dev 30:629-35 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.03.002"">10.1016/j.braindev.2008.03.002</a>"
H01819,"早期ミオクロニー脳症
 下位グループ    CDKL5 欠損症
 上位グループ    症候性全般てんかん [DS:H00577]",,,"Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. The pathogenesis of EME is variable, with structural, metabolic, and genetic abnormalities all playing a role. Associated metabolic abnormalities are frequently described. In particular, nonketotic hyperglycinemia has been associated with a large number of cases.",神経系疾患,,"SLC25A22 [HSA:79751] [KO:K15107]
 SIK1 [HSA:150094] [KO:K19008]
 SLC1A2 [HSA:6506] [KO:K05613]
 CDKL5 [HSA:6792] [KO:K08824]",,,,,See also H00606 Early infantile epileptic encephalopathy.,"ICD-11: 8A61.0Y
 ICD-10: G40.4
 MeSH: C562695
 OMIM: 609304 616341 617105 300672","PMID:19812426
 著者        Kamate M, Mahantshetti N, Chetal V
 タイトル      Early myoclonic encephalopathy.
 雑誌        Indian Pediatr 46:804-6 (2009)
 PMID:23044011
 著者        Beal JC, Cherian K, Moshe SL
 タイトル      Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
 雑誌        Pediatr Neurol 47:317-23 (2012)
 DOI:10.1016/j.pediatrneurol.2012.06.002
 PMID:15592994 (SLC25A22)
 著者        Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L
 タイトル      Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
 雑誌        Am J Hum Genet 76:334-9 (2005)
 DOI:10.1086/427564
 PMID:25839329 (SIK1)
 著者        Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR
 タイトル      De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
 雑誌        Am J Hum Genet 96:682-90 (2015)
 DOI:10.1016/j.ajhg.2015.02.013
 PMID:27476654 (SLC1A2)
 著者        Myers CT, McMahon JM, Schneider AL, Petrovski S
 タイトル      De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 99:287-98 (2016)
 DOI:10.1016/j.ajhg.2016.06.003
 PMID:31492455 (CDKL5)
 著者        Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H
 タイトル      Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.
 雑誌        Brain Dev 42:73-76 (2020)
 DOI:10.1016/j.braindev.2019.08.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01819"">H01819</a>","早期ミオクロニー脳症
 下位グループ    CDKL5 欠損症
 上位グループ    症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. The pathogenesis of EME is variable, with structural, metabolic, and genetic abnormalities all playing a role. Associated metabolic abnormalities are frequently described. In particular, nonketotic hyperglycinemia has been associated with a large number of cases.",,"SLC25A22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79751"">79751</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15107"">K15107</a>]
 SIK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:150094"">150094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19008"">K19008</a>]
 SLC1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6506"">6506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05613"">K05613</a>]
 CDKL5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6792"">6792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08824"">K08824</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00606"">H00606</a> Early infantile epileptic encephalopathy.","ICD-11: 8A61.0Y
 ICD-10: G40.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562695"">C562695</a>
 OMIM: <a href=""https://www.omim.org/entry/609304"">609304</a> <a href=""https://www.omim.org/entry/616341"">616341</a> <a href=""https://www.omim.org/entry/617105"">617105</a> <a href=""https://www.omim.org/entry/300672"">300672</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19812426"">19812426</a>
 著者        Kamate M, Mahantshetti N, Chetal V
 タイトル      Early myoclonic encephalopathy.
 雑誌        Indian Pediatr 46:804-6 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23044011"">23044011</a>
 著者        Beal JC, Cherian K, Moshe SL
 タイトル      Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
 雑誌        Pediatr Neurol 47:317-23 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2012.06.002"">10.1016/j.pediatrneurol.2012.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15592994"">15592994</a> (SLC25A22)
 著者        Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L
 タイトル      Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
 雑誌        Am J Hum Genet 76:334-9 (2005)
 DOI:<a href=""https://doi.org/10.1086/427564"">10.1086/427564</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25839329"">25839329</a> (SIK1)
 著者        Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR
 タイトル      De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
 雑誌        Am J Hum Genet 96:682-90 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.013"">10.1016/j.ajhg.2015.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476654"">27476654</a> (SLC1A2)
 著者        Myers CT, McMahon JM, Schneider AL, Petrovski S
 タイトル      De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
 雑誌        Am J Hum Genet 99:287-98 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.003"">10.1016/j.ajhg.2016.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31492455"">31492455</a> (CDKL5)
 著者        Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H
 タイトル      Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.
 雑誌        Brain Dev 42:73-76 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2019.08.003"">10.1016/j.braindev.2019.08.003</a>"
H01820,"カーニー複合
 上位グループ    下垂体腺腫 [DS:H01102]
 クッシング症候群 [DS:H01431]",,,"Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations include primary pigmented nodular adrenocortical disease (PPNAD) [DS:H00260] leading to Cushing's syndrome [DS:H01431], pituitary adenomas [DS:H01102], thyroid nodules, testicular neoplasms, ovarian cysts, psammomatous melanotic schwannomas, ductal breast adenomas and osteochondromyxomas. Most CNC patients initially present with adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to PPNAD or heart myxomas. Skin lesions are the most common CNC manifestation: lentigines are present in 70 to 75% of patients with CNC. Blue nevi are also typical of CNC. CNC is caused by inactivating mutations or large deletions of the PRKAR1A gene coding for the regulatory subunit type I alpha of protein kinase A (PKA). It may be inherited as an autosomal dominant trait but in a significant number of patients the disease is sporadic, presumably due to de novo mutations.",その他の疾患,,PRKAR1A [HSA:5573] [KO:K04739],,,,,,"ICD-11: 5A70.Y
 ICD-10: Q89.7
 MeSH: D056733
 OMIM: 160980","PMID:25592387
 著者        Schernthaner-Reiter MH, Trivellin G, Stratakis CA
 タイトル      MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.
 雑誌        Neuroendocrinology 103:18-31 (2016)
 DOI:10.1159/000371819
 PMID:26130139
 著者        Correa R, Salpea P, Stratakis CA
 タイトル      Carney complex: an update.
 雑誌        Eur J Endocrinol 173:M85-97 (2015)
 DOI:10.1530/EJE-15-0209
 PMID:24012779
 著者        Salpea P, Stratakis CA
 タイトル      Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
 雑誌        Mol Cell Endocrinol 386:85-91 (2014)
 DOI:10.1016/j.mce.2013.08.022
 PMID:11115848
 著者        Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA
 タイトル      Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
 雑誌        Hum Mol Genet 9:3037-46 (2000)
 DOI:10.1093/hmg/9.20.3037","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01820"">H01820</a>","カーニー複合
 上位グループ    下垂体腺腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a>]
 クッシング症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a>]","Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations include primary pigmented nodular adrenocortical disease (PPNAD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00260"">H00260</a>] leading to Cushing's syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01431],"">H01431],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pituitary"">pituitary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adenomas"">adenomas</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01102],"">H01102],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:thyroid"">thyroid</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nodules,"">nodules,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:testicular"">testicular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neoplasms,"">neoplasms,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ovarian"">ovarian</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cysts,"">cysts,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:psammomatous"">psammomatous</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:melanotic"">melanotic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:schwannomas,"">schwannomas,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ductal"">ductal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:breast"">breast</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adenomas"">adenomas</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:osteochondromyxomas."">osteochondromyxomas.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Most"">Most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:CNC"">CNC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:initially"">initially</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:present"">present</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adrenocorticotropic"">adrenocorticotropic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hormone"">hormone</a> (ACTH)-independent <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Cushing's"">Cushing's</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:due"">due</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PPNAD"">PPNAD</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:heart"">heart</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:myxomas."">myxomas.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Skin"">Skin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lesions"">lesions</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:common"">common</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:CNC"">CNC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:manifestation:"">manifestation:</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lentigines"">lentigines</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:present"">present</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:70"">70</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:75%"">75%</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:CNC."">CNC.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Blue"">Blue</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nevi"">nevi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:typical"">typical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:CNC."">CNC.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:CNC"">CNC</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:caused"">caused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inactivating"">inactivating</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:large"">large</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:deletions"">deletions</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:PRKAR1A"">PRKAR1A</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene"">gene</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:coding"">coding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:regulatory"">regulatory</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:subunit"">subunit</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:type"">type</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:I"">I</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:alpha"">alpha</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:protein"">protein</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:kinase"">kinase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:A"">A</a> (PKA). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inherited"">inherited</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autosomal"">autosomal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dominant"">dominant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:trait"">trait</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:significant"">significant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:number"">number</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:patients"">patients</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sporadic,"">sporadic,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:presumably"">presumably</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:due"">due</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:de"">de</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:novo"">novo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations."">mutations.</a>",,"PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]",,,,,,"ICD-11: 5A70.Y
 ICD-10: Q89.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056733"">D056733</a>
 OMIM: <a href=""https://www.omim.org/entry/160980"">160980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25592387"">25592387</a>
 著者        Schernthaner-Reiter MH, Trivellin G, Stratakis CA
 タイトル      MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.
 雑誌        Neuroendocrinology 103:18-31 (2016)
 DOI:<a href=""https://doi.org/10.1159/000371819"">10.1159/000371819</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26130139"">26130139</a>
 著者        Correa R, Salpea P, Stratakis CA
 タイトル      Carney complex: an update.
 雑誌        Eur J Endocrinol 173:M85-97 (2015)
 DOI:<a href=""https://doi.org/10.1530/EJE-15-0209"">10.1530/EJE-15-0209</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24012779"">24012779</a>
 著者        Salpea P, Stratakis CA
 タイトル      Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
 雑誌        Mol Cell Endocrinol 386:85-91 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2013.08.022"">10.1016/j.mce.2013.08.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11115848"">11115848</a>
 著者        Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA
 タイトル      Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
 雑誌        Hum Mol Genet 9:3037-46 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.20.3037"">10.1093/hmg/9.20.3037</a>"
H01821,"錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
 上位グループ    脊椎骨幹端異形成 [DS:H02185]",,,"Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with shortened tubular bones; and early-onset, progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically characterized by platyspondyly and metaphyseal dysplasia. Extra-skeletal abnormalities associated with SMDs are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD.",先天奇形,,PCYT1A [HSA:5130] [KO:K00968],,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: C563825
 OMIM: 608940","PMID:21412974
 著者        Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G
 タイトル      Spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Med Genet A 155A:845-9 (2011)
 DOI:10.1002/ajmg.a.33898
 PMID:24387991
 著者        Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR
 タイトル      Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Hum Genet 94:113-9 (2014)
 DOI:10.1016/j.ajhg.2013.11.022
 PMID:24387990
 著者        Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM
 タイトル      Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Hum Genet 94:105-12 (2014)
 DOI:10.1016/j.ajhg.2013.11.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01821"">H01821</a>","錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
 上位グループ    脊椎骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02185"">H02185</a>]","Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with shortened tubular bones; and early-onset, progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically characterized by platyspondyly and metaphyseal dysplasia. Extra-skeletal abnormalities associated with SMDs are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD.",,"PCYT1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5130"">5130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00968"">K00968</a>]",,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563825"">C563825</a>
 OMIM: <a href=""https://www.omim.org/entry/608940"">608940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412974"">21412974</a>
 著者        Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G
 タイトル      Spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Med Genet A 155A:845-9 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33898"">10.1002/ajmg.a.33898</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24387991"">24387991</a>
 著者        Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR
 タイトル      Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Hum Genet 94:113-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.022"">10.1016/j.ajhg.2013.11.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24387990"">24387990</a>
 著者        Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM
 タイトル      Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 雑誌        Am J Hum Genet 94:105-12 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.018"">10.1016/j.ajhg.2013.11.018</a>"
H01822,ミオクロニー欠神てんかん,,,"Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis is based on clinical observation and ictal polygraphic and video-EEG recording. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz. The age of onset of seizures is usually between 3 and 12 years, with a peak at around 5 to 7 years of age. The mental development of children with EMA is usually slow, and the long-term prognosis is poor.",神経系疾患,,,,,,,See also H00808 Idiopathic generalized epilepsies.,"ICD-11: 8A61.23
 ICD-10: G40.3
 MeSH: D004831","PMID:15737698
 著者        Bureau M, Tassinari CA
 タイトル      Epilepsy with myoclonic absences.
 雑誌        Brain Dev 27:178-84 (2005)
 DOI:10.1016/j.braindev.2004.01.008
 PMID:27770719 (drug)
 著者        Zanzmera P, Menon RN, Karkare K, Soni H, Jagtap S, Radhakrishnan A
 タイトル      Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype.
 雑誌        Epilepsy Behav 64:242-247 (2016)
 DOI:10.1016/j.yebeh.2016.08.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01822"">H01822</a>",ミオクロニー欠神てんかん,"Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis is based on clinical observation and ictal polygraphic and video-EEG recording. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz. The age of onset of seizures is usually between 3 and 12 years, with a peak at around 5 to 7 years of age. The mental development of children with EMA is usually slow, and the long-term prognosis is poor.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00808"">H00808</a> Idiopathic generalized epilepsies.","ICD-11: 8A61.23
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004831"">D004831</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15737698"">15737698</a>
 著者        Bureau M, Tassinari CA
 タイトル      Epilepsy with myoclonic absences.
 雑誌        Brain Dev 27:178-84 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2004.01.008"">10.1016/j.braindev.2004.01.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27770719"">27770719</a> (drug)
 著者        Zanzmera P, Menon RN, Karkare K, Soni H, Jagtap S, Radhakrishnan A
 タイトル      Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype.
 雑誌        Epilepsy Behav 64:242-247 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.yebeh.2016.08.023"">10.1016/j.yebeh.2016.08.023</a>"
H01823,"ミオクロニー脱力発作を伴うてんかん;
 ドーゼ症候群
 下位グループ    ミオクローヌス-脱力発作てんかん [DS:H02361]
 上位グループ    症候性全般てんかん [DS:H00577]",,,"Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures were the most prominent. The electro- encephalogram (EEG) tracings may be normal initially, but later develop a characteristic biparietal theta background rhythm, and irregularly generalized spike wave, and polyspike wave discharges. In general, children are developmentally normal before the onset of epilepsy and organic brain abnormalities are absent. Long-term prognosis varies from cessation of seizures with normal developmental outcome to intractable epilepsy with mental retardation. Favorable outcomes were reported in half to two-thirds of cases. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants, such as levetiracetam and zonisamide, may provide additional seizure control. The most effective treatment reported to date appears to be the ketogenic diet.",神経系疾患,,,,,,,,"ICD-11: 8A61.22
 ICD-10: G40.4
 MeSH: D004831","PMID:20722665
 著者        Kelley SA, Kossoff EH
 タイトル      Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
 雑誌        Dev Med Child Neurol 52:988-93 (2010)
 DOI:10.1111/j.1469-8749.2010.03744.x
 PMID:17651420 (drug)
 著者        Kilaru S, Bergqvist AG
 タイトル      Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia.
 雑誌        Epilepsia 48:1703-7 (2007)
 DOI:10.1111/j.1528-1167.2007.01186.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01823"">H01823</a>","ミオクロニー脱力発作を伴うてんかん;
 ドーゼ症候群
 下位グループ    ミオクローヌス-脱力発作てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02361"">H02361</a>]
 上位グループ    症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures were the most prominent. The electro- encephalogram (EEG) tracings may be normal initially, but later develop a characteristic biparietal theta background rhythm, and irregularly generalized spike wave, and polyspike wave discharges. In general, children are developmentally normal before the onset of epilepsy and organic brain abnormalities are absent. Long-term prognosis varies from cessation of seizures with normal developmental outcome to intractable epilepsy with mental retardation. Favorable outcomes were reported in half to two-thirds of cases. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants, such as levetiracetam and zonisamide, may provide additional seizure control. The most effective treatment reported to date appears to be the ketogenic diet.",,,,,,,,"ICD-11: 8A61.22
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004831"">D004831</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20722665"">20722665</a>
 著者        Kelley SA, Kossoff EH
 タイトル      Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
 雑誌        Dev Med Child Neurol 52:988-93 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2010.03744.x"">10.1111/j.1469-8749.2010.03744.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17651420"">17651420</a> (drug)
 著者        Kilaru S, Bergqvist AG
 タイトル      Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia.
 雑誌        Epilepsia 48:1703-7 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2007.01186.x"">10.1111/j.1528-1167.2007.01186.x</a>"
H01824,CODAS (脳・眼・歯・耳介・骨格) 症候群,,,"CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome is a rare multiple congenital anomalies syndrome. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-spondyloepiphyseal dysplasia. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). Recently, mutations in LONP1 gene have been mapped and identified as causative of this disorder. LONP1 encodes Lon protease, a homohexameric enzyme that mediates protein quality control, respiratory-complex assembly, gene expression, and stress responses in mitochondria.",先天奇形,,LONP1 [HSA:9361] [KO:K08675],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: C536434
 OMIM: 600373","PMID:11471171
 著者        Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR
 タイトル      Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.
 雑誌        Am J Med Genet 102:44-7 (2001)
 DOI:10.1002/1096-8628(20010722)102:1<44::AID-AJMG1410>3.0.CO;2-7
 PMID:25808063
 著者        Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafe L, Superti-Furga A, Unger S
 タイトル      Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
 雑誌        Am J Med Genet A 167:1501-9 (2015)
 DOI:10.1002/ajmg.a.37029
 PMID:27033304
 著者        Pinti M, Gibellini L, Nasi M, De Biasi S, Bortolotti CA, Iannone A, Cossarizza A
 タイトル      Emerging role of Lon protease as a master regulator of mitochondrial functions.
 雑誌        Biochim Biophys Acta 1857:1300-6 (2016)
 DOI:10.1016/j.bbabio.2016.03.025
 PMID:25574826
 著者        Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK
 タイトル      CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
 雑誌        Am J Hum Genet 96:121-35 (2015)
 DOI:10.1016/j.ajhg.2014.12.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01824"">H01824</a>",CODAS (脳・眼・歯・耳介・骨格) 症候群,"CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome is a rare multiple congenital anomalies syndrome. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-spondyloepiphyseal dysplasia. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). Recently, mutations in LONP1 gene have been mapped and identified as causative of this disorder. LONP1 encodes Lon protease, a homohexameric enzyme that mediates protein quality control, respiratory-complex assembly, gene expression, and stress responses in mitochondria.",,"LONP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9361"">9361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08675"">K08675</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536434"">C536434</a>
 OMIM: <a href=""https://www.omim.org/entry/600373"">600373</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11471171"">11471171</a>
 著者        Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR
 タイトル      Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.
 雑誌        Am J Med Genet 102:44-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/1096-8628(20010722)102:"">10.1002/1096-8628(20010722)102:</a><a href=""https://doi.org/1<44:"">1<44:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG1410>3.0.CO;2-7"">AID-AJMG1410>3.0.CO;2-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25808063"">25808063</a>
 著者        Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafe L, Superti-Furga A, Unger S
 タイトル      Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
 雑誌        Am J Med Genet A 167:1501-9 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37029"">10.1002/ajmg.a.37029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27033304"">27033304</a>
 著者        Pinti M, Gibellini L, Nasi M, De Biasi S, Bortolotti CA, Iannone A, Cossarizza A
 タイトル      Emerging role of Lon protease as a master regulator of mitochondrial functions.
 雑誌        Biochim Biophys Acta 1857:1300-6 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.bbabio.2016.03.025"">10.1016/j.bbabio.2016.03.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25574826"">25574826</a>
 著者        Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK
 タイトル      CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
 雑誌        Am J Hum Genet 96:121-35 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.003"">10.1016/j.ajhg.2014.12.003</a>"
H01825,"Sedaghatian 型脊椎骨幹端異形成症
 上位グループ    脊椎骨幹端異形成 [DS:H02185]",,,"Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.",先天奇形,,GPX4 [HSA:2879] [KO:K05361],,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: C535798
 OMIM: 250220","PMID:9556300
 著者        Elcioglu N, Hall CM
 タイトル      Spondylometaphyseal dysplasia-Sedaghatian type.
 雑誌        Am J Med Genet 76:410-4 (1998)
 DOI:10.1002/(SICI)1096-8628(19980413)76:5<410::AID-AJMG8>3.0.CO;2-Q
 PMID:22529034
 著者        Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L
 タイトル      Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
 雑誌        Am J Med Genet A 158A:1400-5 (2012)
 DOI:10.1002/ajmg.a.35306
 PMID:24706940
 著者        Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE
 タイトル      Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
 雑誌        J Med Genet 51:470-4 (2014)
 DOI:10.1136/jmedgenet-2013-102218","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01825"">H01825</a>","Sedaghatian 型脊椎骨幹端異形成症
 上位グループ    脊椎骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02185"">H02185</a>]","Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.",,"GPX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2879"">2879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05361"">K05361</a>]",,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535798"">C535798</a>
 OMIM: <a href=""https://www.omim.org/entry/250220"">250220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9556300"">9556300</a>
 著者        Elcioglu N, Hall CM
 タイトル      Spondylometaphyseal dysplasia-Sedaghatian type.
 雑誌        Am J Med Genet 76:410-4 (1998)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19980413)76:"">10.1002/(SICI)1096-8628(19980413)76:</a><a href=""https://doi.org/5<410:"">5<410:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG8>3.0.CO;2-Q"">AID-AJMG8>3.0.CO;2-Q</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22529034"">22529034</a>
 著者        Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L
 タイトル      Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
 雑誌        Am J Med Genet A 158A:1400-5 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35306"">10.1002/ajmg.a.35306</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24706940"">24706940</a>
 著者        Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE
 タイトル      Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
 雑誌        J Med Genet 51:470-4 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102218"">10.1136/jmedgenet-2013-102218</a>"
H01826,海馬硬化を伴う内側側頭葉てんかん,,,"Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted to patients in whom hippocampal atrophy and/or abnormal signal intensity on MRI, anterior temporal interictal epileptiform discharges, and additional evidence of temporal dysfunction on functional images and neuro-psychological assessment are demonstrated. Patients with MTLE-HS often have a history of early risk factors such as febrile seizures, status epilepticus (SE) or infection. A seizure-free period may ensue before uncontrolled partial seizures begin. Epileptic focus is located deeply in the mesial temporal region including mainly hippocampus, parahippocampal gyrus and amygdala. The anatomopathological hallmark is sclerosis of the hippocampus. Since most of the cases are drug resistant, epilepsy surgery is the current gold standard therapy option for cessation of seizures. Familial forms of MTLE-HS have been recognized, but no causal gene has been identified so far.",神経系疾患,,,,,,,,"ICD-11: 8A60.7
 ICD-10: G40.2
 MeSH: C566903","PMID:25809843
 著者        Jin SH, Jeong W, Chung CK
 タイトル      Mesial temporal lobe epilepsy with hippocampal sclerosis is a network disorder with altered cortical hubs.
 雑誌        Epilepsia 56:772-9 (2015)
 DOI:10.1111/epi.12966
 PMID:21112221
 著者        Cersosimo R, Flesler S, Bartuluchi M, Soprano AM, Pomata H, Caraballo R
 タイトル      Mesial temporal lobe epilepsy with hippocampal sclerosis: study of 42 children.
 雑誌        Seizure 20:131-7 (2011)
 DOI:10.1016/j.seizure.2010.11.002
 PMID:20663517
 著者        Yang T, Zhou D, Stefan H
 タイトル      Why mesial temporal lobe epilepsy with hippocampal sclerosis is progressive: uncontrolled inflammation drives disease progression?
 雑誌        J Neurol Sci 296:1-6 (2010)
 DOI:10.1016/j.jns.2010.06.002
 PMID:27450765
 著者        Tekturk P, Erdogan ET, Kurt A, Vanli-Yavuz EN, Ekizoglu E, Kocagoncu E, Kucuk Z, Aksu S, Bebek N, Yapici Z, Gurses C, Gokyigit A, Baykan B, Karamursel S
 タイトル      The effect of transcranial direct current stimulation on seizure frequency of patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
 雑誌        Clin Neurol Neurosurg 149:27-32 (2016)
 DOI:10.1016/j.clineuro.2016.07.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01826"">H01826</a>",海馬硬化を伴う内側側頭葉てんかん,"Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted to patients in whom hippocampal atrophy and/or abnormal signal intensity on MRI, anterior temporal interictal epileptiform discharges, and additional evidence of temporal dysfunction on functional images and neuro-psychological assessment are demonstrated. Patients with MTLE-HS often have a history of early risk factors such as febrile seizures, status epilepticus (SE) or infection. A seizure-free period may ensue before uncontrolled partial seizures begin. Epileptic focus is located deeply in the mesial temporal region including mainly hippocampus, parahippocampal gyrus and amygdala. The anatomopathological hallmark is sclerosis of the hippocampus. Since most of the cases are drug resistant, epilepsy surgery is the current gold standard therapy option for cessation of seizures. Familial forms of MTLE-HS have been recognized, but no causal gene has been identified so far.",,,,,,,,"ICD-11: 8A60.7
 ICD-10: G40.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566903"">C566903</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25809843"">25809843</a>
 著者        Jin SH, Jeong W, Chung CK
 タイトル      Mesial temporal lobe epilepsy with hippocampal sclerosis is a network disorder with altered cortical hubs.
 雑誌        Epilepsia 56:772-9 (2015)
 DOI:<a href=""https://doi.org/10.1111/epi.12966"">10.1111/epi.12966</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21112221"">21112221</a>
 著者        Cersosimo R, Flesler S, Bartuluchi M, Soprano AM, Pomata H, Caraballo R
 タイトル      Mesial temporal lobe epilepsy with hippocampal sclerosis: study of 42 children.
 雑誌        Seizure 20:131-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.seizure.2010.11.002"">10.1016/j.seizure.2010.11.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20663517"">20663517</a>
 著者        Yang T, Zhou D, Stefan H
 タイトル      Why mesial temporal lobe epilepsy with hippocampal sclerosis is progressive: uncontrolled inflammation drives disease progression?
 雑誌        J Neurol Sci 296:1-6 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2010.06.002"">10.1016/j.jns.2010.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27450765"">27450765</a>
 著者        Tekturk P, Erdogan ET, Kurt A, Vanli-Yavuz EN, Ekizoglu E, Kocagoncu E, Kucuk Z, Aksu S, Bebek N, Yapici Z, Gurses C, Gokyigit A, Baykan B, Karamursel S
 タイトル      The effect of transcranial direct current stimulation on seizure frequency of patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
 雑誌        Clin Neurol Neurosurg 149:27-32 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.clineuro.2016.07.014"">10.1016/j.clineuro.2016.07.014</a>"
H01827,"ローランドてんかん、精神遅滞および発語失行
 下位グループ    ランドウ・クレフナー症候群 [DS:H01514]",,,"Rolandic epilepsy is the most  frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 has been identified as being responsible for rolandic epilepsy associated with speech dyspraxia and mental retardation.",神経系疾患,,"GRIN2A [HSA:2903] [KO:K05209]
 SRPX2 [HSA:27286] [KO:K19408]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 MeSH: D019305
 OMIM: 245570 300643","PMID:23622211
 著者        Van Bogaert P
 タイトル      Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome.
 雑誌        Handb Clin Neurol 111:635-40 (2013)
 DOI:10.1016/B978-0-444-52891-9.00066-X
 PMID:24634784
 著者        Singhal NS, Sullivan JE
 タイトル      Continuous Spike-Wave during Slow Wave Sleep and Related Conditions.
 雑誌        ISRN Neurol 2014:619079 (2014)
 DOI:10.1155/2014/619079
 PMID:23933819
 著者        Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S
 タイトル      Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
 雑誌        Nat Genet 45:1067-72 (2013)
 DOI:10.1038/ng.2728
 PMID:23933820
 著者        Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P
 タイトル      GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
 雑誌        Nat Genet 45:1061-6 (2013)
 DOI:10.1038/ng.2726
 PMID:16497722
 著者        Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P
 タイトル      SRPX2 mutations in disorders of language cortex and cognition.
 雑誌        Hum Mol Genet 15:1195-207 (2006)
 DOI:10.1093/hmg/ddl035","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01827"">H01827</a>","ローランドてんかん、精神遅滞および発語失行
 下位グループ    ランドウ・クレフナー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01514"">H01514</a>]","Rolandic epilepsy is the most  frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 has been identified as being responsible for rolandic epilepsy associated with speech dyspraxia and mental retardation.",,"GRIN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2903"">2903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05209"">K05209</a>]
 SRPX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27286"">27286</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19408"">K19408</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D019305"">D019305</a>
 OMIM: <a href=""https://www.omim.org/entry/245570"">245570</a> <a href=""https://www.omim.org/entry/300643"">300643</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23622211"">23622211</a>
 著者        Van Bogaert P
 タイトル      Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome.
 雑誌        Handb Clin Neurol 111:635-40 (2013)
 DOI:<a href=""https://doi.org/10.1016/B978-0-444-52891-9.00066-X"">10.1016/B978-0-444-52891-9.00066-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24634784"">24634784</a>
 著者        Singhal NS, Sullivan JE
 タイトル      Continuous Spike-Wave during Slow Wave Sleep and Related Conditions.
 雑誌        ISRN Neurol 2014:619079 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/619079"">10.1155/2014/619079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23933819"">23933819</a>
 著者        Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S
 タイトル      Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
 雑誌        Nat Genet 45:1067-72 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2728"">10.1038/ng.2728</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23933820"">23933820</a>
 著者        Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P
 タイトル      GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
 雑誌        Nat Genet 45:1061-6 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2726"">10.1038/ng.2726</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16497722"">16497722</a>
 著者        Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P
 タイトル      SRPX2 mutations in disorders of language cortex and cognition.
 雑誌        Hum Mol Genet 15:1195-207 (2006)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl035"">10.1093/hmg/ddl035</a>"
H01828,成熟遅延骨異形成症,,,"Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and facial dysmorphism, including prominent brow, large fontanels, depressed nasal bridge, and small anteverted nose with long philtrum, as well as short feet and hands with sausage-like fingers. Death secondary to respiratory failure during the first few years of life was reported in the cases originally described but the outcome is now known to be highly variable with multiple long-term survivors. Typical radiographical features include short long bones with markedly delayed epiphyseal mineralization, metaphyseal cupping, short metacarpals and phalanges, and severe platyspondyly. Mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with OPS. However, not all patients have INPPL1 variants suggesting that OPS exhibits genetic heterogeneity.",先天奇形,,INPPL1 [HSA:3636] [KO:K15909],,,,,,"ICD-11: LD24.5Y
 ICD-10: Q78.8
 MeSH: C537122
 OMIM: 258480","PMID:27708270
 著者        Fradet A, Fitzgerald J
 タイトル      INPPL1 gene mutations in opsismodysplasia.
 雑誌        J Hum Genet 62:135-140 (2017)
 DOI:10.1038/jhg.2016.119
 PMID:23552673
 著者        Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
 タイトル      Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
 雑誌        J Hum Genet 58:391-4 (2013)
 DOI:10.1038/jhg.2013.25
 PMID:23273567
 著者        Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
 雑誌        Am J Hum Genet 92:137-43 (2013)
 DOI:10.1016/j.ajhg.2012.11.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01828"">H01828</a>",成熟遅延骨異形成症,"Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and facial dysmorphism, including prominent brow, large fontanels, depressed nasal bridge, and small anteverted nose with long philtrum, as well as short feet and hands with sausage-like fingers. Death secondary to respiratory failure during the first few years of life was reported in the cases originally described but the outcome is now known to be highly variable with multiple long-term survivors. Typical radiographical features include short long bones with markedly delayed epiphyseal mineralization, metaphyseal cupping, short metacarpals and phalanges, and severe platyspondyly. Mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with OPS. However, not all patients have INPPL1 variants suggesting that OPS exhibits genetic heterogeneity.",,"INPPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3636"">3636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15909"">K15909</a>]",,,,,,"ICD-11: LD24.5Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537122"">C537122</a>
 OMIM: <a href=""https://www.omim.org/entry/258480"">258480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27708270"">27708270</a>
 著者        Fradet A, Fitzgerald J
 タイトル      INPPL1 gene mutations in opsismodysplasia.
 雑誌        J Hum Genet 62:135-140 (2017)
 DOI:<a href=""https://doi.org/10.1038/jhg.2016.119"">10.1038/jhg.2016.119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23552673"">23552673</a>
 著者        Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
 タイトル      Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
 雑誌        J Hum Genet 58:391-4 (2013)
 DOI:<a href=""https://doi.org/10.1038/jhg.2013.25"">10.1038/jhg.2013.25</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23273567"">23273567</a>
 著者        Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ
 タイトル      Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
 雑誌        Am J Hum Genet 92:137-43 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.11.011"">10.1016/j.ajhg.2012.11.011</a>"
H01829,難治頻回部分発作重積型急性脳炎,,,"Acute encephalitis with refractory, repetitive partial seizures (AERRPS) is a new epileptic syndrome mainly affecting children. AERRPS has not been perceived in Western countries, although it is widely recognized in Japan. They usually present abruptly with seizure or impaired consciousness as well as high-grade fever following antecedent infection. Seizures in AERRPS are almost exclusively of localized origin, whose semiology includes eye deviation, hemifacial twitching, hemiclonic convulsion, and autonomic manifestations. Partial seizures are brief, but repeat with increasing frequency and develop status epilepticus at nadir. It is followed by continuous transition to intractable epilepsy without a latent period. They are uniformly resistant to conventional antiepileptic drugs. In most cases, high-dose barbiturate treatment is necessary during the acute phase of the illness. Benzodiazepines, mainly midazolam, were partially effective in some patients. The pathogenesis of AERRPS is still poorly understood. It is currently suspected to represent an inflammatory disorder of the central nervous system.",神経系疾患,,,,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.5","PMID:19327924 (marker, env_factor)
 著者        Sakuma H
 タイトル      Acute encephalitis with refractory, repetitive partial seizures.
 雑誌        Brain Dev 31:510-4 (2009)
 DOI:10.1016/j.braindev.2009.02.010
 PMID:20028339 (drug)
 著者        Sakuma H, Awaya Y, Shiomi M, Yamanouchi H, Takahashi Y, Saito Y, Sugai K, Sasaki M
 タイトル      Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis.
 雑誌        Acta Neurol Scand 121:251-6 (2010)
 DOI:10.1111/j.1600-0404.2009.01198.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01829"">H01829</a>",難治頻回部分発作重積型急性脳炎,"Acute encephalitis with refractory, repetitive partial seizures (AERRPS) is a new epileptic syndrome mainly affecting children. AERRPS has not been perceived in Western countries, although it is widely recognized in Japan. They usually present abruptly with seizure or impaired consciousness as well as high-grade fever following antecedent infection. Seizures in AERRPS are almost exclusively of localized origin, whose semiology includes eye deviation, hemifacial twitching, hemiclonic convulsion, and autonomic manifestations. Partial seizures are brief, but repeat with increasing frequency and develop status epilepticus at nadir. It is followed by continuous transition to intractable epilepsy without a latent period. They are uniformly resistant to conventional antiepileptic drugs. In most cases, high-dose barbiturate treatment is necessary during the acute phase of the illness. Benzodiazepines, mainly midazolam, were partially effective in some patients. The pathogenesis of AERRPS is still poorly understood. It is currently suspected to represent an inflammatory disorder of the central nervous system.",,,,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.5","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19327924"">19327924</a> (marker, <a href=""https://pubmed.ncbi.nlm.nih.gov/env_factor)"">env_factor)</a>
 著者        Sakuma H
 タイトル      Acute encephalitis with refractory, repetitive partial seizures.
 雑誌        Brain Dev 31:510-4 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2009.02.010"">10.1016/j.braindev.2009.02.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20028339"">20028339</a> (drug)
 著者        Sakuma H, Awaya Y, Shiomi M, Yamanouchi H, Takahashi Y, Saito Y, Sugai K, Sasaki M
 タイトル      Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis.
 雑誌        Acta Neurol Scand 121:251-6 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.2009.01198.x"">10.1111/j.1600-0404.2009.01198.x</a>"
H01830,"Megarbane-Dagher-Melki 型脊椎骨幹端異形成症
 上位グループ    脊椎骨幹端異形成 [DS:H02185]",,,"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease.",先天奇形,,PAM16 [HSA:51025] [KO:K17805],,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 OMIM: 613320","PMID:24786642
 著者        Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Megarbane A
 タイトル      The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
 雑誌        PLoS Genet 10:e1004311 (2014)
 DOI:10.1371/journal.pgen.1004311
 PMID:24458487
 著者        Megarbane A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V
 タイトル      A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
 雑誌        Am J Med Genet A 164A:1010-4 (2014)
 DOI:10.1002/ajmg.a.36372
 PMID:18925669
 著者        Megarbane A, Dagher R, Melki I
 タイトル      Sib pair with previously unreported skeletal dysplasia.
 雑誌        Am J Med Genet A 146A:2916-9 (2008)
 DOI:10.1002/ajmg.a.32540","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01830"">H01830</a>","Megarbane-Dagher-Melki 型脊椎骨幹端異形成症
 上位グループ    脊椎骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02185"">H02185</a>]","Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease.",,"PAM16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51025"">51025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17805"">K17805</a>]",,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 OMIM: <a href=""https://www.omim.org/entry/613320"">613320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24786642"">24786642</a>
 著者        Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Megarbane A
 タイトル      The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
 雑誌        PLoS Genet 10:e1004311 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004311"">10.1371/journal.pgen.1004311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24458487"">24458487</a>
 著者        Megarbane A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V
 タイトル      A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
 雑誌        Am J Med Genet A 164A:1010-4 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36372"">10.1002/ajmg.a.36372</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18925669"">18925669</a>
 著者        Megarbane A, Dagher R, Melki I
 タイトル      Sib pair with previously unreported skeletal dysplasia.
 雑誌        Am J Med Genet A 146A:2916-9 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32540"">10.1002/ajmg.a.32540</a>"
H01831,環状２０番染色体症候群,,,"Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most patients, seizures are drug resistant and characterized by prolonged nonconvulsive status epilepticus (NCSE). Psychomotor development may be normal or mildly delayed until epilepsy onset. The distinctive electroencephalograms (EEG) have been described in the syndrome. They suggest the involvement of the frontal lobes networks in the generation of ictal and interictal activities.",染色体異常,,,,,,,,"ICD-11: LD44.0
 ICD-10: Q93.2
 MeSH: C535369","PMID:23731915
 著者        Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP
 タイトル      Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
 雑誌        Funct Neurol 28:47-53 (2013)
 DOI:10.11138/FNeur/2013.28.1.047
 PMID:24483620
 著者        Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
 タイトル      Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
 雑誌        Epilepsia 55:403-13 (2014)
 DOI:10.1111/epi.12539","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01831"">H01831</a>",環状２０番染色体症候群,"Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most patients, seizures are drug resistant and characterized by prolonged nonconvulsive status epilepticus (NCSE). Psychomotor development may be normal or mildly delayed until epilepsy onset. The distinctive electroencephalograms (EEG) have been described in the syndrome. They suggest the involvement of the frontal lobes networks in the generation of ictal and interictal activities.",,,,,,,,"ICD-11: LD44.0
 ICD-10: Q93.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535369"">C535369</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23731915"">23731915</a>
 著者        Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP
 タイトル      Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
 雑誌        Funct Neurol 28:47-53 (2013)
 DOI:<a href=""https://doi.org/10.11138/FNeur/2013.28.1.047"">10.11138/FNeur/2013.28.1.047</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24483620"">24483620</a>
 著者        Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
 タイトル      Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
 雑誌        Epilepsia 55:403-13 (2014)
 DOI:<a href=""https://doi.org/10.1111/epi.12539"">10.1111/epi.12539</a>"
H01832,Lenz-Majewski 症候群,,,"Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels.",先天奇形,,PTDSS1 [HSA:9791] [KO:K08729],,,,,,"ICD-11: LD24.1Y
 ICD-10: Q87.1
 MeSH: C537115
 OMIM: 151050","PMID:5249155
 著者        Braham RL
 タイトル      Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case.
 雑誌        Oral Surg Oral Med Oral Pathol 27:20-6 (1969)
 DOI:10.1016/0030-4220(69)90026-7
 PMID:27044099
 著者        Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T
 タイトル      Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
 雑誌        Proc Natl Acad Sci U S A 113:4314-9 (2016)
 DOI:10.1073/pnas.1525719113
 PMID:24241535
 著者        Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlova M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE
 タイトル      Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
 雑誌        Nat Genet 46:70-6 (2014)
 DOI:10.1038/ng.2829
 PMID:26117586
 著者        Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK
 タイトル      Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
 雑誌        Eur J Med Genet 58:392-9 (2015)
 DOI:10.1016/j.ejmg.2015.06.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01832"">H01832</a>",Lenz-Majewski 症候群,"Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels.",,"PTDSS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9791"">9791</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08729"">K08729</a>]",,,,,,"ICD-11: LD24.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537115"">C537115</a>
 OMIM: <a href=""https://www.omim.org/entry/151050"">151050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5249155"">5249155</a>
 著者        Braham RL
 タイトル      Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case.
 雑誌        Oral Surg Oral Med Oral Pathol 27:20-6 (1969)
 DOI:<a href=""https://doi.org/10.1016/0030-4220(69)90026-7"">10.1016/0030-4220(69)90026-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27044099"">27044099</a>
 著者        Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T
 タイトル      Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
 雑誌        Proc Natl Acad Sci U S A 113:4314-9 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1525719113"">10.1073/pnas.1525719113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24241535"">24241535</a>
 著者        Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlova M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE
 タイトル      Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
 雑誌        Nat Genet 46:70-6 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2829"">10.1038/ng.2829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26117586"">26117586</a>
 著者        Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK
 タイトル      Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
 雑誌        Eur J Med Genet 58:392-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2015.06.002"">10.1016/j.ejmg.2015.06.002</a>"
H01833,片側巨脳症,,,"Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated finding, or as part of a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant epilepsy is often treated with a hemispherectomy. If resective surgery is impossible, vagus nerve stimulation (VNS) can be used for seizure palliation. The etiology of hemimegalencephaly is not clear. Some authors consider abnormal neuroepithelial cell lineage as the primary cause.",先天奇形,,,,,,,"See also H00915 Tuberous sclerosis complex, and H01788 Klippel-Trenaunay-Weber syndrome.","ICD-11: LA05.1
 ICD-10: Q04.5
 MeSH: D065705","PMID:28377884
 著者        Ikeda KM, Mirsattari SM
 タイトル      Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature.
 雑誌        Epilepsy Behav Case Rep 7:45-48 (2017)
 DOI:10.1016/j.ebcr.2017.02.002
 PMID:26251796
 著者        Chrastina J, Novak Z, Brazdil M, Hermanova M
 タイトル      Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly.
 雑誌        J Neurol Surg Rep 76:e160-3 (2015)
 DOI:10.1055/s-0035-1554929","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01833"">H01833</a>",片側巨脳症,"Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated finding, or as part of a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant epilepsy is often treated with a hemispherectomy. If resective surgery is impossible, vagus nerve stimulation (VNS) can be used for seizure palliation. The etiology of hemimegalencephaly is not clear. Some authors consider abnormal neuroepithelial cell lineage as the primary cause.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00915"">H00915</a> Tuberous sclerosis complex, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01788"">H01788</a> Klippel-Trenaunay-Weber syndrome.","ICD-11: LA05.1
 ICD-10: Q04.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065705"">D065705</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28377884"">28377884</a>
 著者        Ikeda KM, Mirsattari SM
 タイトル      Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature.
 雑誌        Epilepsy Behav Case Rep 7:45-48 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ebcr.2017.02.002"">10.1016/j.ebcr.2017.02.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26251796"">26251796</a>
 著者        Chrastina J, Novak Z, Brazdil M, Hermanova M
 タイトル      Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly.
 雑誌        J Neurol Surg Rep 76:e160-3 (2015)
 DOI:<a href=""https://doi.org/10.1055/s-0035-1554929"">10.1055/s-0035-1554929</a>"
H01834,Marshall-Smith 症候群,,,"Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS.",先天奇形,,NFIX [HSA:4784] [KO:K09171],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C536026
 OMIM: 602535","PMID:4321601
 著者        Marshall RE, Graham CB, Scott CR, Smith DW
 タイトル      Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.
 雑誌        J Pediatr 78:95-101 (1971)
 DOI:10.1016/S0022-3476(71)80269-X
 PMID:16086394
 著者        Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH
 タイトル      Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
 雑誌        Am J Med Genet A 137:117-24 (2005)
 DOI:10.1002/ajmg.a.30580
 PMID:20673863
 著者        Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V
 タイトル      Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
 雑誌        Am J Hum Genet 87:189-98 (2010)
 DOI:10.1016/j.ajhg.2010.07.001
 PMID:20949508
 著者        Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Puseljic S, Zenker M, Cormier-Daire V, Hennekam RC
 タイトル      Phenotype and natural history in Marshall-Smith syndrome.
 雑誌        Am J Med Genet A 152A:2714-26 (2010)
 DOI:10.1002/ajmg.a.33709","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01834"">H01834</a>",Marshall-Smith 症候群,"Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS.",,"NFIX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4784"">4784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09171"">K09171</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536026"">C536026</a>
 OMIM: <a href=""https://www.omim.org/entry/602535"">602535</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4321601"">4321601</a>
 著者        Marshall RE, Graham CB, Scott CR, Smith DW
 タイトル      Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.
 雑誌        J Pediatr 78:95-101 (1971)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(71)80269-X"">10.1016/S0022-3476(71)80269-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16086394"">16086394</a>
 著者        Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH
 タイトル      Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
 雑誌        Am J Med Genet A 137:117-24 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30580"">10.1002/ajmg.a.30580</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20673863"">20673863</a>
 著者        Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V
 タイトル      Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
 雑誌        Am J Hum Genet 87:189-98 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.07.001"">10.1016/j.ajhg.2010.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20949508"">20949508</a>
 著者        Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Puseljic S, Zenker M, Cormier-Daire V, Hennekam RC
 タイトル      Phenotype and natural history in Marshall-Smith syndrome.
 雑誌        Am J Med Genet A 152A:2714-26 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33709"">10.1002/ajmg.a.33709</a>"
H01835,"神経細胞移動異常症
 下位グループ    脳回欠損症 [DS:H00268]
 異所性灰白質 [DS:H00270]
 多小脳回 [DS:H00271]
 裂脳症 [DS:H01160]
 孔脳症 [DS:H00839]
 脳梁欠損症 [DS:H00263]",,,"Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by malpositioning and faulty differentiation of cortical grey matter. Neuronal positioning is an integral part of the coordinated steps comprising neural circuit formation in embryonic and neonatal development. Correct positioning of neurons by normal migration plays a critical role in establishing cognitive functions and emotion. The causes of brain malformations associated with positioning and migration defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging.",先天奇形,,,,,,,,"ICD-11: LA05.5
 ICD-10: Q04
 MeSH: D054081","PMID:10515161
 著者        Copp AJ, Harding BN
 タイトル      Neuronal migration disorders in humans and in mouse models--an overview.
 雑誌        Epilepsy Res 36:133-41 (1999)
 DOI:10.1016/S0920-1211(99)00047-9
 PMID:26541977
 著者        Moffat JJ, Ka M, Jung EM, Kim WY
 タイトル      Genes and brain malformations associated with abnormal neuron positioning.
 雑誌        Mol Brain 8:72 (2015)
 DOI:10.1186/s13041-015-0164-4
 PMID:23495356
 著者        Moon HM, Wynshaw-Boris A
 タイトル      Cytoskeleton in action: lissencephaly, a neuronal migration disorder.
 雑誌        Wiley Interdiscip Rev Dev Biol 2:229-45 (2013)
 DOI:10.1002/wdev.67","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01835"">H01835</a>","神経細胞移動異常症
 下位グループ    脳回欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00268"">H00268</a>]
 異所性灰白質 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00270"">H00270</a>]
 多小脳回 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00271"">H00271</a>]
 裂脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01160"">H01160</a>]
 孔脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00839"">H00839</a>]
 脳梁欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00263"">H00263</a>]","Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by malpositioning and faulty differentiation of cortical grey matter. Neuronal positioning is an integral part of the coordinated steps comprising neural circuit formation in embryonic and neonatal development. Correct positioning of neurons by normal migration plays a critical role in establishing cognitive functions and emotion. The causes of brain malformations associated with positioning and migration defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging.",,,,,,,,"ICD-11: LA05.5
 ICD-10: Q04
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054081"">D054081</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10515161"">10515161</a>
 著者        Copp AJ, Harding BN
 タイトル      Neuronal migration disorders in humans and in mouse models--an overview.
 雑誌        Epilepsy Res 36:133-41 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0920-1211(99)00047-9"">10.1016/S0920-1211(99)00047-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26541977"">26541977</a>
 著者        Moffat JJ, Ka M, Jung EM, Kim WY
 タイトル      Genes and brain malformations associated with abnormal neuron positioning.
 雑誌        Mol Brain 8:72 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13041-015-0164-4"">10.1186/s13041-015-0164-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23495356"">23495356</a>
 著者        Moon HM, Wynshaw-Boris A
 タイトル      Cytoskeleton in action: lissencephaly, a neuronal migration disorder.
 雑誌        Wiley Interdiscip Rev Dev Biol 2:229-45 (2013)
 DOI:<a href=""https://doi.org/10.1002/wdev.67"">10.1002/wdev.67</a>"
H01836,"先天性無痛無汗症
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:H00265]",,,"Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis and absence of reaction to noxious stimuli, self-mutilating behaviour, and mental retardation. Neurotrophic tyrosine kinase receptor type 1 (NTRK1) is considered the most likely candidate gene for CIPA, although involvement of other genes is a possibility. To date, approximately 50 loss-of-function NTRK1 variants have been associated with CIPA.",神経系疾患,,NTRK1 [HSA:4914] [KO:K03176],,,,,See also H00265 Hereditary sensory and autonomic neuropathy,"ICD-11: 8C21.2
 ICD-10: G60.8
 MeSH: D009477
 OMIM: 256800","PMID:25984678
 著者        Wang Q, Guo S, Duan G, Xiang G, Ying Y, Zhang Y, Zhang X
 タイトル      Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
 雑誌        Medicine (Baltimore) 94:e871 (2015)
 DOI:10.1097/MD.0000000000000871
 PMID:8696348
 著者        Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I
 タイトル      Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
 雑誌        Nat Genet 13:485-8 (1996)
 DOI:10.1038/ng0896-485","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01836"">H01836</a>","先天性無痛無汗症
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00265"">H00265</a>]","Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis and absence of reaction to noxious stimuli, self-mutilating behaviour, and mental retardation. Neurotrophic tyrosine kinase receptor type 1 (NTRK1) is considered the most likely candidate gene for CIPA, although involvement of other genes is a possibility. To date, approximately 50 loss-of-function NTRK1 variants have been associated with CIPA.",,"NTRK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4914"">4914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03176"">K03176</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00265"">H00265</a> Hereditary sensory and autonomic neuropathy","ICD-11: 8C21.2
 ICD-10: G60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009477"">D009477</a>
 OMIM: <a href=""https://www.omim.org/entry/256800"">256800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25984678"">25984678</a>
 著者        Wang Q, Guo S, Duan G, Xiang G, Ying Y, Zhang Y, Zhang X
 タイトル      Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
 雑誌        Medicine (Baltimore) 94:e871 (2015)
 DOI:<a href=""https://doi.org/10.1097/MD.0000000000000871"">10.1097/MD.0000000000000871</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8696348"">8696348</a>
 著者        Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I
 タイトル      Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
 雑誌        Nat Genet 13:485-8 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0896-485"">10.1038/ng0896-485</a>"
H01837,"先天性核上性球麻痺;
 ウースター・ドロート症候群",,,"Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. Owing to the paresis of the orbicularis oris the patient is unable to round the lips or to blow, but as other facial muscles are not affected he can smile normally and close his eyes. An increased jaw jerk and a positive snout reflex are sometimes found, suggesting an upper motor neurone lesion. Congenital suprabulbar paresis has not yet been recognised in the literature as a genetic entity but occasional familial cases suggest that it may have a genetic basis.",神経系疾患,,,,,,,,"ICD-11: 8D23
 ICD-10: G80.8
 MeSH: C536747
 OMIM: 185480","PMID:19824895
 著者        Clark M, Harris R, Jolleff N, Price K, Neville BG
 タイトル      Worster-Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech.
 雑誌        Dev Med Child Neurol 52:27-32 (2010)
 DOI:10.1111/j.1469-8749.2009.03475.x
 PMID:3955865
 著者        Patton MA, Baraitser M, Brett EM
 タイトル      A family with congenital suprabulbar paresis (Worster-Drought syndrome).
 雑誌        Clin Genet 29:147-50 (1986)
 DOI:10.1111/j.1399-0004.1986.tb01239.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01837"">H01837</a>","先天性核上性球麻痺;
 ウースター・ドロート症候群","Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. Owing to the paresis of the orbicularis oris the patient is unable to round the lips or to blow, but as other facial muscles are not affected he can smile normally and close his eyes. An increased jaw jerk and a positive snout reflex are sometimes found, suggesting an upper motor neurone lesion. Congenital suprabulbar paresis has not yet been recognised in the literature as a genetic entity but occasional familial cases suggest that it may have a genetic basis.",,,,,,,,"ICD-11: 8D23
 ICD-10: G80.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536747"">C536747</a>
 OMIM: <a href=""https://www.omim.org/entry/185480"">185480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19824895"">19824895</a>
 著者        Clark M, Harris R, Jolleff N, Price K, Neville BG
 タイトル      Worster-Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech.
 雑誌        Dev Med Child Neurol 52:27-32 (2010)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.2009.03475.x"">10.1111/j.1469-8749.2009.03475.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3955865"">3955865</a>
 著者        Patton MA, Baraitser M, Brett EM
 タイトル      A family with congenital suprabulbar paresis (Worster-Drought syndrome).
 雑誌        Clin Genet 29:147-50 (1986)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1986.tb01239.x"">10.1111/j.1399-0004.1986.tb01239.x</a>"
H01838,"小頭症を伴う下顎顔面異形成症;
 Guion-Almeida 型下顎顔面骨形成不全症",,,"Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia, micrognathia, characteristic external ear abnormalities, and significant global developmental delay. In addition, several affected individuals have also presented with delayed brain myelination and abnormal white matter on magnetic resonance imaging (MRI), choanal and aural atresia, cleft palate, congenital heart defects, bilateral hearing loss, cryptorchidism, proximally placed thumbs, and expressive language delay. Haploinsufficiency of a spliceosomal GTPase, EFTUD2, is responsible.",先天奇形,,EFTUD2 [HSA:9343] [KO:K12852],,,,,,"ICD-11: LD2F.16
 ICD-10: Q87.0
 OMIM: 610536","PMID:16760738
 著者        Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A
 タイトル      A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
 雑誌        Clin Dysmorphol 15:171-4 (2006)
 DOI:10.1097/01.mcd.0000220603.09661.7e
 PMID:24266672
 著者        Gandomi SK, Parra M, Reeves D, Yap V, Gau CL
 タイトル      Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
 雑誌        Clin Genet 87:80-4 (2015)
 DOI:10.1111/cge.12328
 PMID:27670155
 著者        Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K
 タイトル      Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
 雑誌        Brain Dev 39:177-181 (2017)
 DOI:10.1016/j.braindev.2016.08.008
 PMID:22305528
 著者        Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM
 タイトル      Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
 雑誌        Am J Hum Genet 90:369-77 (2012)
 DOI:10.1016/j.ajhg.2011.12.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01838"">H01838</a>","小頭症を伴う下顎顔面異形成症;
 Guion-Almeida 型下顎顔面骨形成不全症","Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia, micrognathia, characteristic external ear abnormalities, and significant global developmental delay. In addition, several affected individuals have also presented with delayed brain myelination and abnormal white matter on magnetic resonance imaging (MRI), choanal and aural atresia, cleft palate, congenital heart defects, bilateral hearing loss, cryptorchidism, proximally placed thumbs, and expressive language delay. Haploinsufficiency of a spliceosomal GTPase, EFTUD2, is responsible.",,"EFTUD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9343"">9343</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12852"">K12852</a>]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/610536"">610536</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16760738"">16760738</a>
 著者        Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A
 タイトル      A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
 雑誌        Clin Dysmorphol 15:171-4 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.mcd.0000220603.09661.7e"">10.1097/01.mcd.0000220603.09661.7e</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24266672"">24266672</a>
 著者        Gandomi SK, Parra M, Reeves D, Yap V, Gau CL
 タイトル      Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
 雑誌        Clin Genet 87:80-4 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12328"">10.1111/cge.12328</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27670155"">27670155</a>
 著者        Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K
 タイトル      Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
 雑誌        Brain Dev 39:177-181 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2016.08.008"">10.1016/j.braindev.2016.08.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22305528"">22305528</a>
 著者        Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM
 タイトル      Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
 雑誌        Am J Hum Genet 90:369-77 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.023"">10.1016/j.ajhg.2011.12.023</a>"
H01839,Burn-McKeown 症候群,,,"Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.",先天奇形,,TXNL4A [HSA:10907] [KO:K12859],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537411
 OMIM: 608572","PMID:25865758
 著者        Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
 タイトル      A review of craniofacial disorders caused by spliceosomal defects.
 雑誌        Clin Genet 88:405-15 (2015)
 DOI:10.1111/cge.12596
 PMID:25434003
 著者        Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM
 タイトル      Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
 雑誌        Am J Hum Genet 95:698-707 (2014)
 DOI:10.1016/j.ajhg.2014.10.014
 PMID:27413799
 著者        Ludecke HJ, Wieczorek D
 タイトル      Burn-McKeown Syndrome
 雑誌        GeneReviews (1993)
 PMID:1342861
 著者        Burn J, McKeown C, Wagget J, Bray R, Goodship J
 タイトル      New dysmorphic syndrome with choanal atresia in siblings.
 雑誌        Clin Dysmorphol 1:137-44 (1992)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01839"">H01839</a>",Burn-McKeown 症候群,"Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00610"">H00610</a>] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.",,"TXNL4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10907"">10907</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12859"">K12859</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537411"">C537411</a>
 OMIM: <a href=""https://www.omim.org/entry/608572"">608572</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25865758"">25865758</a>
 著者        Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
 タイトル      A review of craniofacial disorders caused by spliceosomal defects.
 雑誌        Clin Genet 88:405-15 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12596"">10.1111/cge.12596</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25434003"">25434003</a>
 著者        Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM
 タイトル      Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
 雑誌        Am J Hum Genet 95:698-707 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.014"">10.1016/j.ajhg.2014.10.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27413799"">27413799</a>
 著者        Ludecke HJ, Wieczorek D
 タイトル      Burn-McKeown Syndrome
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1342861"">1342861</a>
 著者        Burn J, McKeown C, Wagget J, Bray R, Goodship J
 タイトル      New dysmorphic syndrome with choanal atresia in siblings.
 雑誌        Clin Dysmorphol 1:137-44 (1992)"
H01840,メビウス症候群,,,"Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial neuropathies can also be found, most notably cranial nerves V, IX, X, and XII. The disorder presents with varying phenotype and severity. Frequently, it has additional features including orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities. The specific etiology of MBS is unknown, and theories of the underlying pathophysiology and genetics are numerous. The two main theories underlying the pathogenesis of MBS are an embryological developmental defect in the rhombomere segments including the facial nerve nuclei and an interruption of the vascular supply resulting in ischemia. It has also been reported that mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain.",先天奇形,,,,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: D020331
 OMIM: 157900","PMID:24612975
 著者        MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC
 タイトル      Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
 雑誌        Ophthalmology 121:1461-8 (2014)
 DOI:10.1016/j.ophtha.2014.01.006
 PMID:25663568
 著者        Kadakia S, Helman SN, Schwedhelm T, Saman M, Azizzadeh B
 タイトル      Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.
 雑誌        Oral Maxillofac Surg 19:109-16 (2015)
 DOI:10.1007/s10006-015-0485-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01840"">H01840</a>",メビウス症候群,"Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial neuropathies can also be found, most notably cranial nerves V, IX, X, and XII. The disorder presents with varying phenotype and severity. Frequently, it has additional features including orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities. The specific etiology of MBS is unknown, and theories of the underlying pathophysiology and genetics are numerous. The two main theories underlying the pathogenesis of MBS are an embryological developmental defect in the rhombomere segments including the facial nerve nuclei and an interruption of the vascular supply resulting in ischemia. It has also been reported that mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain.",,,,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020331"">D020331</a>
 OMIM: <a href=""https://www.omim.org/entry/157900"">157900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24612975"">24612975</a>
 著者        MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC
 タイトル      Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
 雑誌        Ophthalmology 121:1461-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2014.01.006"">10.1016/j.ophtha.2014.01.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25663568"">25663568</a>
 著者        Kadakia S, Helman SN, Schwedhelm T, Saman M, Azizzadeh B
 タイトル      Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.
 雑誌        Oral Maxillofac Surg 19:109-16 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10006-015-0485-6"">10.1007/s10006-015-0485-6</a>"
H01841,痙攣重積型 (二相性) 急性脳症,,,"Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. AESD is the most common subtype of infectious pediatric encephalopathy in Japan, and is often observed in children with neurological problems, such as intellectual disability and motor delay. AESD is clinically characterized by a prolonged febrile seizure on day 1, followed by late seizures associated with deterioration of the consciousness level on days 4 to 6, and is radiologically characterized by delayed reduced diffusion in the frontal or frontoparietal subcortical white matter, the so-called bright tree appearance, on days 3 to 9. The exact pathogenesis of AESD is uncertain, however, excitotoxic injury with delayed (or apoptotic) neuronal death is hypothesized to be a possible mechanism.",神経系疾患,,,,Theophylline [CPD:C07130],,,,"ICD-11: 8E47
 ICD-10: G93.4","PMID:27288783
 著者        Fujita Y, Takanashi J, Takei H, Ota S, Fujii K, Sakuma H, Hayashi M
 タイトル      Activated microglia in acute encephalopathy with biphasic seizures and late reduced diffusion.
 雑誌        J Neurol Sci 366:91-3 (2016)
 DOI:10.1016/j.jns.2016.04.050
 PMID:23772250
 著者        Yadav SS, Lawande MA, Kulkarni SD, Patkar DA
 タイトル      Acute encephalopathy with biphasic seizures and late reduced diffusion.
 雑誌        J Pediatr Neurosci 8:64-6 (2013)
 DOI:10.4103/1817-1745.111429","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01841"">H01841</a>",痙攣重積型 (二相性) 急性脳症,"Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. AESD is the most common subtype of infectious pediatric encephalopathy in Japan, and is often observed in children with neurological problems, such as intellectual disability and motor delay. AESD is clinically characterized by a prolonged febrile seizure on day 1, followed by late seizures associated with deterioration of the consciousness level on days 4 to 6, and is radiologically characterized by delayed reduced diffusion in the frontal or frontoparietal subcortical white matter, the so-called bright tree appearance, on days 3 to 9. The exact pathogenesis of AESD is uncertain, however, excitotoxic injury with delayed (or apoptotic) neuronal death is hypothesized to be a possible mechanism.",,,,"Theophylline [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C07130"">C07130</a>]",,,,"ICD-11: 8E47
 ICD-10: G93.4","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27288783"">27288783</a>
 著者        Fujita Y, Takanashi J, Takei H, Ota S, Fujii K, Sakuma H, Hayashi M
 タイトル      Activated microglia in acute encephalopathy with biphasic seizures and late reduced diffusion.
 雑誌        J Neurol Sci 366:91-3 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2016.04.050"">10.1016/j.jns.2016.04.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23772250"">23772250</a>
 著者        Yadav SS, Lawande MA, Kulkarni SD, Patkar DA
 タイトル      Acute encephalopathy with biphasic seizures and late reduced diffusion.
 雑誌        J Pediatr Neurosci 8:64-6 (2013)
 DOI:<a href=""https://doi.org/10.4103/1817-1745.111429"">10.4103/1817-1745.111429</a>"
H01842,ビッカースタッフ脳幹脳炎,,,"Bickerstaff's brainstem encephalitis (BBE) is a rare immune disorder in children, characterized by progressive ophthalmoplegia, ataxia, and disturbance of consciousness. Although the etiology of BBE is unknown, it has been linked to various antecedent infections. BBE is associated with the anti-GQ1b IgG antibody, which is present in 66% of a population of patients who had BBE. An autoimmune mechanism produced by microbial infection may trigger its pathogenesis. Intravenous immunoglobulin (IVIg) is effective in immune-mediated disorders such as Fisher syndrome (FS) and Guillain-Barre syndrome (GBS). IVIg is also effective in treatment of BBE, which is similar to the clinical and immunologic features of FS or GBS. Combined therapy of IVIg and high-dose methylprednisolone is a more efficacious therapy than IVIg alone. Most patients make a clinical recovery over six months.",免疫系疾患; 神経系疾患,,,,,,,See also H01436 Guillain-Barre syndrome and H01689 Fisher syndrome.,"ICD-11: 8C01.0
 ICD-10: G61.0","PMID:25379047
 著者        Rho YI
 タイトル      Overlapping Guillain-Barre syndrome and Bickerstaff's brainstem encephalitis associated with Epstein Barr virus.
 雑誌        Korean J Pediatr 57:457-60 (2014)
 DOI:10.3345/kjp.2014.57.10.457
 PMID:22984203
 著者        Shahrizaila N, Yuki N
 タイトル      Bickerstaff brainstem encephalitis and Fisher syndrome: anti-GQ1b antibody syndrome.
 雑誌        J Neurol Neurosurg Psychiatry 84:576-83 (2013)
 DOI:10.1136/jnnp-2012-302824
 PMID:14706228 (marker)
 著者        Matsuo M, Odaka M, Koga M, Tsuchiya K, Hamasaki Y, Yuki N
 タイトル      Bickerstaff's brainstem encephalitis associated with IgM antibodies to GM1b and GalNAc-GD1a.
 雑誌        J Neurol Sci 217:225-8 (2004)
 DOI:10.1016/j.jns.2003.09.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01842"">H01842</a>",ビッカースタッフ脳幹脳炎,"Bickerstaff's brainstem encephalitis (BBE) is a rare immune disorder in children, characterized by progressive ophthalmoplegia, ataxia, and disturbance of consciousness. Although the etiology of BBE is unknown, it has been linked to various antecedent infections. BBE is associated with the anti-GQ1b IgG antibody, which is present in 66% of a population of patients who had BBE. An autoimmune mechanism produced by microbial infection may trigger its pathogenesis. Intravenous immunoglobulin (IVIg) is effective in immune-mediated disorders such as Fisher syndrome (FS) and Guillain-Barre syndrome (GBS). IVIg is also effective in treatment of BBE, which is similar to the clinical and immunologic features of FS or GBS. Combined therapy of IVIg and high-dose methylprednisolone is a more efficacious therapy than IVIg alone. Most patients make a clinical recovery over six months.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01436"">H01436</a> Guillain-Barre syndrome and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01689"">H01689</a> Fisher syndrome.","ICD-11: 8C01.0
 ICD-10: G61.0","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25379047"">25379047</a>
 著者        Rho YI
 タイトル      Overlapping Guillain-Barre syndrome and Bickerstaff's brainstem encephalitis associated with Epstein Barr virus.
 雑誌        Korean J Pediatr 57:457-60 (2014)
 DOI:<a href=""https://doi.org/10.3345/kjp.2014.57.10.457"">10.3345/kjp.2014.57.10.457</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22984203"">22984203</a>
 著者        Shahrizaila N, Yuki N
 タイトル      Bickerstaff brainstem encephalitis and Fisher syndrome: anti-GQ1b antibody syndrome.
 雑誌        J Neurol Neurosurg Psychiatry 84:576-83 (2013)
 DOI:<a href=""https://doi.org/10.1136/jnnp-2012-302824"">10.1136/jnnp-2012-302824</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14706228"">14706228</a> (marker)
 著者        Matsuo M, Odaka M, Koga M, Tsuchiya K, Hamasaki Y, Yuki N
 タイトル      Bickerstaff's brainstem encephalitis associated with IgM antibodies to GM1b and GalNAc-GD1a.
 雑誌        J Neurol Sci 217:225-8 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2003.09.008"">10.1016/j.jns.2003.09.008</a>"
H01843,脳・肋骨・下顎症候群,,,"Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.",先天奇形,,SNRPB [HSA:6628] [KO:K11086],,,,,,"ICD-11: LD24.H
 ICD-10: Q87.8
 MeSH: C562538
 OMIM: 117650","PMID:5928011
 著者        Smith DW, Theiler K, Schachenmann G
 タイトル      Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.
 雑誌        J Pediatr 69:799-803 (1966)
 DOI:10.1016/S0022-3476(66)80127-0
 PMID:26971886
 著者        Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S
 タイトル      Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
 雑誌        Am J Med Genet A 170A:1115-26 (2016)
 DOI:10.1002/ajmg.a.37587
 PMID:26240113
 著者        Ramaswamy P, Negus S, Homfray T, De Rooy L
 タイトル      Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.
 雑誌        Arch Dis Child Fetal Neonatal Ed 101:F85 (2016)
 DOI:10.1136/archdischild-2014-307855
 PMID:25865758
 著者        Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
 タイトル      A review of craniofacial disorders caused by spliceosomal defects.
 雑誌        Clin Genet 88:405-15 (2015)
 DOI:10.1111/cge.12596
 PMID:25047197
 著者        Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP
 タイトル      Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
 雑誌        Nat Commun 5:4483 (2014)
 DOI:10.1038/ncomms5483","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01843"">H01843</a>",脳・肋骨・下顎症候群,"Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.",,"SNRPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6628"">6628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11086"">K11086</a>]",,,,,,"ICD-11: LD24.H
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562538"">C562538</a>
 OMIM: <a href=""https://www.omim.org/entry/117650"">117650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5928011"">5928011</a>
 著者        Smith DW, Theiler K, Schachenmann G
 タイトル      Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.
 雑誌        J Pediatr 69:799-803 (1966)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(66)80127-0"">10.1016/S0022-3476(66)80127-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26971886"">26971886</a>
 著者        Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S
 タイトル      Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
 雑誌        Am J Med Genet A 170A:1115-26 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37587"">10.1002/ajmg.a.37587</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26240113"">26240113</a>
 著者        Ramaswamy P, Negus S, Homfray T, De Rooy L
 タイトル      Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.
 雑誌        Arch Dis Child Fetal Neonatal Ed 101:F85 (2016)
 DOI:<a href=""https://doi.org/10.1136/archdischild-2014-307855"">10.1136/archdischild-2014-307855</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25865758"">25865758</a>
 著者        Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
 タイトル      A review of craniofacial disorders caused by spliceosomal defects.
 雑誌        Clin Genet 88:405-15 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12596"">10.1111/cge.12596</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25047197"">25047197</a>
 著者        Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP
 タイトル      Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
 雑誌        Nat Commun 5:4483 (2014)
 DOI:<a href=""https://doi.org/10.1038/ncomms5483"">10.1038/ncomms5483</a>"
H01844,透明脊椎異骨症,,,"Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. The spine is most prominently affected, with diaphanous, that is, translucent vertebrae, due to abnormal vertebral ossification and segmentation. A consistent feature of all described DSD cases are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. It has been determined that DSD is due to mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator.",先天奇形,,BMPER [HSA:168667] [KO:K24517],,,,,,"ICD-11: LD24.5Y
 ICD-10: Q78.8
 MeSH: C564305
 OMIM: 608022","PMID:15988748
 著者        Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joye N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P
 タイトル      Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
 雑誌        Am J Med Genet A 136A:373-6 (2005)
 DOI:10.1002/ajmg.a.30537
 PMID:20869035
 著者        Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH
 タイトル      BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
 雑誌        Am J Hum Genet 87:532-7 (2010)
 DOI:10.1016/j.ajhg.2010.08.015
 PMID:21990102
 著者        Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E
 タイトル      A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
 雑誌        Am J Med Genet A 155A:2801-6 (2011)
 DOI:10.1002/ajmg.a.34240
 PMID:22581610
 著者        Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R
 タイトル      Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.
 雑誌        Am J Med Genet A 158A:1447-51 (2012)
 DOI:10.1002/ajmg.a.35352","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01844"">H01844</a>",透明脊椎異骨症,"Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. The spine is most prominently affected, with diaphanous, that is, translucent vertebrae, due to abnormal vertebral ossification and segmentation. A consistent feature of all described DSD cases are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. It has been determined that DSD is due to mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator.",,"BMPER [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:168667"">168667</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24517"">K24517</a>]",,,,,,"ICD-11: LD24.5Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564305"">C564305</a>
 OMIM: <a href=""https://www.omim.org/entry/608022"">608022</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15988748"">15988748</a>
 著者        Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joye N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P
 タイトル      Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
 雑誌        Am J Med Genet A 136A:373-6 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30537"">10.1002/ajmg.a.30537</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20869035"">20869035</a>
 著者        Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH
 タイトル      BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
 雑誌        Am J Hum Genet 87:532-7 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.08.015"">10.1016/j.ajhg.2010.08.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21990102"">21990102</a>
 著者        Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E
 タイトル      A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
 雑誌        Am J Med Genet A 155A:2801-6 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34240"">10.1002/ajmg.a.34240</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22581610"">22581610</a>
 著者        Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R
 タイトル      Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.
 雑誌        Am J Med Genet A 158A:1447-51 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35352"">10.1002/ajmg.a.35352</a>"
H01845,Catel-Manzke 症候群,,,"Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence is defined by micrognathia, obstruction of the airways due to a backward displacement of the tongue base, and, often but not always, cleft palate. Cardiac abnormalities, facial dysmorphisms, and additional skeletal abnormalities have also been described in a subset of patients with Catel-Manzke syndrome. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome.",先天奇形,,TGDS [HSA:23483] [KO:K01710],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535347
 OMIM: 616145","PMID:18501694
 著者        Manzke H, Lehmann K, Klopocki E, Caliebe A
 タイトル      Catel-Manzke syndrome: two new patients and a critical review of the literature.
 雑誌        Eur J Med Genet 51:452-65 (2008)
 DOI:10.1016/j.ejmg.2008.03.005
 PMID:25480037
 著者        Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmuller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nurnberg P, Siebert R, Manzke H, Mundlos S
 タイトル      Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
 雑誌        Am J Hum Genet 95:763-70 (2014)
 DOI:10.1016/j.ajhg.2014.11.004
 PMID:26366375
 著者        Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC
 タイトル      Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
 雑誌        Mol Genet Metab Rep 4:89-91 (2015)
 DOI:10.1016/j.ymgmr.2015.08.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01845"">H01845</a>",Catel-Manzke 症候群,"Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence is defined by micrognathia, obstruction of the airways due to a backward displacement of the tongue base, and, often but not always, cleft palate. Cardiac abnormalities, facial dysmorphisms, and additional skeletal abnormalities have also been described in a subset of patients with Catel-Manzke syndrome. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome.",,"TGDS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23483"">23483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01710"">K01710</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535347"">C535347</a>
 OMIM: <a href=""https://www.omim.org/entry/616145"">616145</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18501694"">18501694</a>
 著者        Manzke H, Lehmann K, Klopocki E, Caliebe A
 タイトル      Catel-Manzke syndrome: two new patients and a critical review of the literature.
 雑誌        Eur J Med Genet 51:452-65 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2008.03.005"">10.1016/j.ejmg.2008.03.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25480037"">25480037</a>
 著者        Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmuller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nurnberg P, Siebert R, Manzke H, Mundlos S
 タイトル      Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
 雑誌        Am J Hum Genet 95:763-70 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.11.004"">10.1016/j.ajhg.2014.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26366375"">26366375</a>
 著者        Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC
 タイトル      Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
 雑誌        Mol Genet Metab Rep 4:89-91 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ymgmr.2015.08.003"">10.1016/j.ymgmr.2015.08.003</a>"
H01846,脳表ヘモジデリン沈着症,,,"Superficial siderosis is a rare condition caused by hemosiderin deposits in the central nervous system (CNS). Classical type of superficial siderosis primarily affects the infratentorial regions and spinal cord, and typically presents with slowly progressive sensorineural hearing impairment, cerebellar ataxia, and myelopathy. Hemosiderin deposition results from chronic intermittent or continuous minor bleeding into the subarachnoid space. The bleeding is caused by various pathologies, including tumors, meningocele and pseudomeningocele, vascular malformations, and trauma. But only less than 50% of cases have a definite bleeding source identified. A second type of brain siderosis restricted to the part of the cerebral hemispheres, has been identified and referred to as cortical superficial siderosis (CSS). CSS has a different range of potential causes and clinical presentation to classical type, but in older individuals is emerging as a key feature of cerebral amyloid angiopathy.",神経系疾患,,,,,,,See also H01185 Cerebral amyloid angiopathy.,"ICD-11: 8E42
 ICD-10: G96.8
 MeSH: D006486","PMID:24670310
 著者        Tosaka M, Sato K, Amanuma M, Higuchi T, Arai M, Aishima K, Shimizu T, Horiguchi K, Sugawara K, Yoshimoto Y
 タイトル      Superficial siderosis of the central nervous system caused by hemorrhagic intraventricular craniopharyngioma: case report and literature review.
 雑誌        Neurol Med Chir (Tokyo) 55:89-94 (2015)
 DOI:10.2176/nmc.cr.2012-0362
 PMID:17205075
 著者        Levy M, Turtzo C, Llinas RH
 タイトル      Superficial siderosis: a case report and review of the literature.
 雑誌        Nat Clin Pract Neurol 3:54-8; quiz 59 (2007)
 DOI:10.1038/ncpneuro0356
 PMID:26115675
 著者        Charidimou A, Linn J, Vernooij MW, Opherk C, Akoudad S, Baron JC, Greenberg SM, Jager HR, Werring DJ
 タイトル      Cortical superficial siderosis: detection and clinical significance in cerebral amyloid angiopathy and related conditions.
 雑誌        Brain 138:2126-39 (2015)
 DOI:10.1093/brain/awv162","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01846"">H01846</a>",脳表ヘモジデリン沈着症,"Superficial siderosis is a rare condition caused by hemosiderin deposits in the central nervous system (CNS). Classical type of superficial siderosis primarily affects the infratentorial regions and spinal cord, and typically presents with slowly progressive sensorineural hearing impairment, cerebellar ataxia, and myelopathy. Hemosiderin deposition results from chronic intermittent or continuous minor bleeding into the subarachnoid space. The bleeding is caused by various pathologies, including tumors, meningocele and pseudomeningocele, vascular malformations, and trauma. But only less than 50% of cases have a definite bleeding source identified. A second type of brain siderosis restricted to the part of the cerebral hemispheres, has been identified and referred to as cortical superficial siderosis (CSS). CSS has a different range of potential causes and clinical presentation to classical type, but in older individuals is emerging as a key feature of cerebral amyloid angiopathy.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01185"">H01185</a> Cerebral amyloid angiopathy.","ICD-11: 8E42
 ICD-10: G96.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006486"">D006486</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24670310"">24670310</a>
 著者        Tosaka M, Sato K, Amanuma M, Higuchi T, Arai M, Aishima K, Shimizu T, Horiguchi K, Sugawara K, Yoshimoto Y
 タイトル      Superficial siderosis of the central nervous system caused by hemorrhagic intraventricular craniopharyngioma: case report and literature review.
 雑誌        Neurol Med Chir (Tokyo) 55:89-94 (2015)
 DOI:<a href=""https://doi.org/10.2176/nmc.cr.2012-0362"">10.2176/nmc.cr.2012-0362</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17205075"">17205075</a>
 著者        Levy M, Turtzo C, Llinas RH
 タイトル      Superficial siderosis: a case report and review of the literature.
 雑誌        Nat Clin Pract Neurol 3:54-8; quiz 59 (2007)
 DOI:<a href=""https://doi.org/10.1038/ncpneuro0356"">10.1038/ncpneuro0356</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26115675"">26115675</a>
 著者        Charidimou A, Linn J, Vernooij MW, Opherk C, Akoudad S, Baron JC, Greenberg SM, Jager HR, Werring DJ
 タイトル      Cortical superficial siderosis: detection and clinical significance in cerebral amyloid angiopathy and related conditions.
 雑誌        Brain 138:2126-39 (2015)
 DOI:<a href=""https://doi.org/10.1093/brain/awv162"">10.1093/brain/awv162</a>"
H01847,血小板減少-橈骨欠損症候群,,,"Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation of the thumb. Other physical abnormalities have been reported such as ulnar and humeral deformities, rib and cervical anomalies, cardiac lesions (usually septal defects), gastrointestinal and genitourinary abnormalities. Cow's milk allergy is highly prevalent in patients with TAR syndrome. TAR syndrome is caused by the compound (bi-allelic) inheritance of one of two noncoding single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization of upper limbs.",先天奇形,,RBM8A [HSA:9939] [KO:K12876],,,,,,"ICD-11: 3B64.01
 ICD-10: Q87.2
 MeSH: C536940
 OMIM: 274000","PMID:13638337
 著者        SHAW S, OLIVER RA
 タイトル      Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings.
 雑誌        Blood 14:374-7 (1959)
 PMID:4951233
 著者        Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA
 タイトル      Thrombocytopenia with absent radius (TAR).
 雑誌        Medicine (Baltimore) 48:411-39 (1969)
 DOI:10.1097/00005792-196948060-00001
 PMID:27981927
 著者        Al-Qattan MM
 タイトル      The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.
 雑誌        J Coll Physicians Surg Pak 26:912-916 (2016)
 PMID:26724991
 著者        Khincha PP, Savage SA
 タイトル      Neonatal manifestations of inherited bone marrow failure syndromes.
 雑誌        Semin Fetal Neonatal Med 21:57-65 (2016)
 DOI:10.1016/j.siny.2015.12.003
 PMID:24888387
 著者        Wilson DB, Link DC, Mason PJ, Bessler M
 タイトル      Inherited bone marrow failure syndromes in adolescents and young adults.
 雑誌        Ann Med 46:353-63 (2014)
 DOI:10.3109/07853890.2014.915579
 PMID:23602329
 著者        Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C
 タイトル      New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
 雑誌        Curr Opin Genet Dev 23:316-23 (2013)
 DOI:10.1016/j.gde.2013.02.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01847"">H01847</a>",血小板減少-橈骨欠損症候群,"Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation of the thumb. Other physical abnormalities have been reported such as ulnar and humeral deformities, rib and cervical anomalies, cardiac lesions (usually septal defects), gastrointestinal and genitourinary abnormalities. Cow's milk allergy is highly prevalent in patients with TAR syndrome. TAR syndrome is caused by the compound (bi-allelic) inheritance of one of two noncoding single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization of upper limbs.",,"RBM8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9939"">9939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12876"">K12876</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536940"">C536940</a>
 OMIM: <a href=""https://www.omim.org/entry/274000"">274000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13638337"">13638337</a>
 著者        SHAW S, OLIVER RA
 タイトル      Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings.
 雑誌        Blood 14:374-7 (1959)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4951233"">4951233</a>
 著者        Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA
 タイトル      Thrombocytopenia with absent radius (TAR).
 雑誌        Medicine (Baltimore) 48:411-39 (1969)
 DOI:<a href=""https://doi.org/10.1097/00005792-196948060-00001"">10.1097/00005792-196948060-00001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27981927"">27981927</a>
 著者        Al-Qattan MM
 タイトル      The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.
 雑誌        J Coll Physicians Surg Pak 26:912-916 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26724991"">26724991</a>
 著者        Khincha PP, Savage SA
 タイトル      Neonatal manifestations of inherited bone marrow failure syndromes.
 雑誌        Semin Fetal Neonatal Med 21:57-65 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.siny.2015.12.003"">10.1016/j.siny.2015.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24888387"">24888387</a>
 著者        Wilson DB, Link DC, Mason PJ, Bessler M
 タイトル      Inherited bone marrow failure syndromes in adolescents and young adults.
 雑誌        Ann Med 46:353-63 (2014)
 DOI:<a href=""https://doi.org/10.3109/07853890.2014.915579"">10.3109/07853890.2014.915579</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23602329"">23602329</a>
 著者        Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C
 タイトル      New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
 雑誌        Curr Opin Genet Dev 23:316-23 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.gde.2013.02.015"">10.1016/j.gde.2013.02.015</a>"
H01848,特発性後天性全身性無汗症,,,"Acquired idiopathic generalized anhidrosis (AIGA) is a rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are Japanese. Various pathomechanisms proposed were idiopathic sudomotor dysfunction, sudomotor neuropathy, sweat gland abnormalities and occlusion of proximal duct. The etiology of AIGA remains unclear because of the rarity of this syndrome. According to the limited studies available, various pathologic abnormalities have been reported. Many patients have associated cholinergic urticaria and raised IgE levels. Immunologic mechanisms are considered to be contributory to the disease. Treatment of AIGA almost always comprises steroid pulse therapy or high-dose oral steroids.",皮膚と軟部組織の疾患,,,,,,,,"ICD-11: EE01.0
 ICD-10: L74.4","PMID:26288446
 著者        Gangadharan G, Criton S, Surendran D
 タイトル      Acquired Idiopathic Generalized Anhidrosis.
 雑誌        Indian J Dermatol 60:422 (2015)
 DOI:10.4103/0019-5154.160533
 PMID:22709381
 著者        Ohshima Y, Yanagishita T, Ito K, Tamada Y, Nishimura N, Inukai Y, Iwase S, Sugenoya J, Watanabe D
 タイトル      Treatment of patients with acquired idiopathic generalized anhidrosis.
 雑誌        Br J Dermatol 168:430-2 (2013)
 DOI:10.1111/j.1365-2133.2012.11112.x
 PMID:18784603
 著者        Chen YC, Wu CS, Chen GS, Khor GT, Chen CH, Huang P
 タイトル      Identification of subgroups of acquired idiopathic generalized anhidrosis.
 雑誌        Neurologist 14:318-20 (2008)
 DOI:10.1097/NRL.0b013e318173e818","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01848"">H01848</a>",特発性後天性全身性無汗症,"Acquired idiopathic generalized anhidrosis (AIGA) is a rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are Japanese. Various pathomechanisms proposed were idiopathic sudomotor dysfunction, sudomotor neuropathy, sweat gland abnormalities and occlusion of proximal duct. The etiology of AIGA remains unclear because of the rarity of this syndrome. According to the limited studies available, various pathologic abnormalities have been reported. Many patients have associated cholinergic urticaria and raised IgE levels. Immunologic mechanisms are considered to be contributory to the disease. Treatment of AIGA almost always comprises steroid pulse therapy or high-dose oral steroids.",,,,,,,,"ICD-11: EE01.0
 ICD-10: L74.4","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26288446"">26288446</a>
 著者        Gangadharan G, Criton S, Surendran D
 タイトル      Acquired Idiopathic Generalized Anhidrosis.
 雑誌        Indian J Dermatol 60:422 (2015)
 DOI:<a href=""https://doi.org/10.4103/0019-5154.160533"">10.4103/0019-5154.160533</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22709381"">22709381</a>
 著者        Ohshima Y, Yanagishita T, Ito K, Tamada Y, Nishimura N, Inukai Y, Iwase S, Sugenoya J, Watanabe D
 タイトル      Treatment of patients with acquired idiopathic generalized anhidrosis.
 雑誌        Br J Dermatol 168:430-2 (2013)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2012.11112.x"">10.1111/j.1365-2133.2012.11112.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18784603"">18784603</a>
 著者        Chen YC, Wu CS, Chen GS, Khor GT, Chen CH, Huang P
 タイトル      Identification of subgroups of acquired idiopathic generalized anhidrosis.
 雑誌        Neurologist 14:318-20 (2008)
 DOI:<a href=""https://doi.org/10.1097/NRL.0b013e318173e818"">10.1097/NRL.0b013e318173e818</a>"
H01849,"末梢性動静脈奇形;
 巨大動静脈奇形 (頚部顔面又は四肢病変)",,,"Arteriovenous malformation (AVM) is a congenital vascular malformation with direct communication from arteries to veins (arteriovenous shunting) and lack of a normal capillary network. The behavior of peripheral (extracranial) AVM is locally aggressive. AVMs are high-flow vascular malformations, and have a wide range of clinical presentations. Some patients may present with an asymptomatic birthmark, while in some patients, the condition may be even life-threatening, leading to congestive heart failure. Typically during puberty or adolescence, the initially quiescent lesion progresses to an expansive mass with cosmetic and functional disturbance. With later progression, the AVM destroys normal tissues and eventually leads to complications such as severe disfigurement, uncontrollable bleeding, ulceration, pain, and cardiac volume overload. A surgical approach is indicated in well-circumscribed malformations of small size. However, the surgical treatment of larger lesions can often lead to excessive blood loss, in addition to serious complications. Ligation or embolization of the arteries supplying the AVM is usually followed by recurrence.",先天奇形,,,,,,,,"ICD-11: LA90.3
 ICD-10: Q27.3","PMID:22766677
 著者        Pekkola J, Lappalainen K, Vuola P, Klockars T, Salminen P, Pitkaranta A
 タイトル      Head and neck arteriovenous malformations: results of ethanol sclerotherapy.
 雑誌        AJNR Am J Neuroradiol 34:198-204 (2013)
 DOI:10.3174/ajnr.A3180
 PMID:23904047
 著者        Ergun O, Atli E, Gulek B, Ciftci T, Cil B, Vargel I, Peynircioglu B
 タイトル      Intraarterial polidocanol injection for the treatment of peripheral arteriovenous malformations.
 雑誌        Surg Today 44:1232-41 (2014)
 DOI:10.1007/s00595-013-0680-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01849"">H01849</a>","末梢性動静脈奇形;
 巨大動静脈奇形 (頚部顔面又は四肢病変)","Arteriovenous malformation (AVM) is a congenital vascular malformation with direct communication from arteries to veins (arteriovenous shunting) and lack of a normal capillary network. The behavior of peripheral (extracranial) AVM is locally aggressive. AVMs are high-flow vascular malformations, and have a wide range of clinical presentations. Some patients may present with an asymptomatic birthmark, while in some patients, the condition may be even life-threatening, leading to congestive heart failure. Typically during puberty or adolescence, the initially quiescent lesion progresses to an expansive mass with cosmetic and functional disturbance. With later progression, the AVM destroys normal tissues and eventually leads to complications such as severe disfigurement, uncontrollable bleeding, ulceration, pain, and cardiac volume overload. A surgical approach is indicated in well-circumscribed malformations of small size. However, the surgical treatment of larger lesions can often lead to excessive blood loss, in addition to serious complications. Ligation or embolization of the arteries supplying the AVM is usually followed by recurrence.",,,,,,,,"ICD-11: LA90.3
 ICD-10: Q27.3","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22766677"">22766677</a>
 著者        Pekkola J, Lappalainen K, Vuola P, Klockars T, Salminen P, Pitkaranta A
 タイトル      Head and neck arteriovenous malformations: results of ethanol sclerotherapy.
 雑誌        AJNR Am J Neuroradiol 34:198-204 (2013)
 DOI:<a href=""https://doi.org/10.3174/ajnr.A3180"">10.3174/ajnr.A3180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23904047"">23904047</a>
 著者        Ergun O, Atli E, Gulek B, Ciftci T, Cil B, Vargel I, Peynircioglu B
 タイトル      Intraarterial polidocanol injection for the treatment of peripheral arteriovenous malformations.
 雑誌        Surg Today 44:1232-41 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00595-013-0680-8"">10.1007/s00595-013-0680-8</a>"
H01850,Hartsfield 症候群,,,"Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur, separately, as part of numerous syndromes, but the co-occurrence of these two malformations has only been reported only in a very limited number. Additional signs such as craniosynostosis, hypertelorism or hypotelorism, microphthalmia, abnormal ears, radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome.",先天奇形,,FGFR1 [HSA:2260] [KO:K04362],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: C564484
 OMIM: 615465","PMID:23812909
 著者        Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C
 タイトル      FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
 雑誌        J Med Genet 50:585-92 (2013)
 DOI:10.1136/jmedgenet-2013-101603
 PMID:19449411
 著者        Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CD, Guion-Almeida ML, Richieri-Costa A
 タイトル      Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
 雑誌        Am J Med Genet A 149A:1277-9 (2009)
 DOI:10.1002/ajmg.a.32844
 著者        Hartsfield, J. K., Jr., Bixler, D., DeMyer, W. E.
 タイトル      Hypertelorism associated with holoprosencephaly and ectrodactyly.
 雑誌        J Clin Dysmorphol 2:27-31 (1984)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01850"">H01850</a>",Hartsfield 症候群,"Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur, separately, as part of numerous syndromes, but the co-occurrence of these two malformations has only been reported only in a very limited number. Additional signs such as craniosynostosis, hypertelorism or hypotelorism, microphthalmia, abnormal ears, radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome.",,"FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564484"">C564484</a>
 OMIM: <a href=""https://www.omim.org/entry/615465"">615465</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23812909"">23812909</a>
 著者        Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C
 タイトル      FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
 雑誌        J Med Genet 50:585-92 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101603"">10.1136/jmedgenet-2013-101603</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19449411"">19449411</a>
 著者        Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CD, Guion-Almeida ML, Richieri-Costa A
 タイトル      Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
 雑誌        Am J Med Genet A 149A:1277-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32844"">10.1002/ajmg.a.32844</a>
 著者        Hartsfield, J. K., Jr., Bixler, D., DeMyer, W. E.
 タイトル      Hypertelorism associated with holoprosencephaly and ectrodactyly.
 雑誌        J Clin Dysmorphol 2:27-31 (1984)"
H01851,肋骨異常を伴う先天性側弯症,,,"Congenital scoliosis is a lateral curvature of the spine that is due to the presence of vertebral anomalies causing an imbalance in the longitudinal growth of the spine. Most congenital scoliosis is often recognized at birth, but more subtle spinal defects can remain undetected. A close interaction of genes and environment regulates the development of normal spine. Developmental studies in animal models have identified many genes regulating somite formation and segmentation. Patients with congenital scoliosis frequently have other associated anomalies. Sometimes rib fusion or absence can be observed along with the spinal anomalies since ribs are formed in close association with the vertebrae. When the number of ribs on the right or left side do not match, congenital vertebral anomalies should be suspected. An extensive thoracic congenital scoliosis associated with fused ribs may affect thoracic function and the growth of the lungs in young children and lead to a thoracic insufficiency syndrome. The vertebral expandable prosthetic titanium rib (VEPTR) holds the expanded hemithorax. This improves the thoracic height, lung volume and lung function.",先天奇形,,,,,,,,"ICD-11: LB73.2
 ICD-10: Q67.5
 MeSH: D012600
 OMIM: 181800","PMID:16264130
 著者        Tsirikos AI, McMaster MJ
 タイトル      Congenital anomalies of the ribs and chest wall associated with congenital deformities of the spine.
 雑誌        J Bone Joint Surg Am 87:2523-36 (2005)
 DOI:10.2106/JBJS.D.02654
 PMID:20419000
 著者        Debnath UK, Goel V, Harshavardhana N, Webb JK
 タイトル      Congenital scoliosis - Quo vadis?
 雑誌        Indian J Orthop 44:137-47 (2010)
 DOI:10.4103/0019-5413.61997","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01851"">H01851</a>",肋骨異常を伴う先天性側弯症,"Congenital scoliosis is a lateral curvature of the spine that is due to the presence of vertebral anomalies causing an imbalance in the longitudinal growth of the spine. Most congenital scoliosis is often recognized at birth, but more subtle spinal defects can remain undetected. A close interaction of genes and environment regulates the development of normal spine. Developmental studies in animal models have identified many genes regulating somite formation and segmentation. Patients with congenital scoliosis frequently have other associated anomalies. Sometimes rib fusion or absence can be observed along with the spinal anomalies since ribs are formed in close association with the vertebrae. When the number of ribs on the right or left side do not match, congenital vertebral anomalies should be suspected. An extensive thoracic congenital scoliosis associated with fused ribs may affect thoracic function and the growth of the lungs in young children and lead to a thoracic insufficiency syndrome. The vertebral expandable prosthetic titanium rib (VEPTR) holds the expanded hemithorax. This improves the thoracic height, lung volume and lung function.",,,,,,,,"ICD-11: LB73.2
 ICD-10: Q67.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012600"">D012600</a>
 OMIM: <a href=""https://www.omim.org/entry/181800"">181800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16264130"">16264130</a>
 著者        Tsirikos AI, McMaster MJ
 タイトル      Congenital anomalies of the ribs and chest wall associated with congenital deformities of the spine.
 雑誌        J Bone Joint Surg Am 87:2523-36 (2005)
 DOI:<a href=""https://doi.org/10.2106/JBJS.D.02654"">10.2106/JBJS.D.02654</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20419000"">20419000</a>
 著者        Debnath UK, Goel V, Harshavardhana N, Webb JK
 タイトル      Congenital scoliosis - Quo vadis?
 雑誌        Indian J Orthop 44:137-47 (2010)
 DOI:<a href=""https://doi.org/10.4103/0019-5413.61997"">10.4103/0019-5413.61997</a>"
H01852,軸後性多指症,,,"Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on the ulnar/fibular side of hands/feet. A small projection of tissue or scar mark just below the proximal interphalangeal crease can also be the only clinical finding. PAP is clinically classified into type A (PAPA) with fully developed extra digit and type B (PAPB) with incompletely developed digit. PAPA is a genetically heterogeneous disorder and exhibits either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may be considered as a variant of PAPA1 in genetics.",先天奇形,,"(PAPA1,PAPB) GLI3 [HSA:2737] [KO:K06230]
 (PAPA6) ZNF141 [HSA:7700] [KO:K09228]
 (PAPA7) IQCE [HSA:23288] [KO:K24677]
 (PAPA8) GLI1 [HSA:2735] [KO:K16797]
 (PAPA9) FAM92A [HSA:137392] [KO:K23868]
 (PAPA10) KIAA0825 [HSA:285600] [KO:K24554]",,,,,See also H01226 GLI3 morphopathies.,"ICD-11: LB78.2 LB78.3
 ICD-10: Q69.0 Q69.2
 MeSH: C562429
 OMIM: 174200 615226","PMID:26515020
 著者        Deng H, Tan T, Yuan L
 タイトル      Advances in the molecular genetics of non-syndromic polydactyly.
 雑誌        Expert Rev Mol Med 17:e18 (2015)
 DOI:10.1017/erm.2015.18
 PMID:25717468
 著者        Verma PK, El-Harouni AA
 タイトル      Review of literature: genes related to postaxial polydactyly.
 雑誌        Front Pediatr 3:8 (2015)
 DOI:10.3389/fped.2015.00008
 PMID:18000979 (PAPA1,PAPB)
 著者        Furniss D, Critchley P, Giele H, Wilkie AO
 タイトル      Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
 雑誌        Am J Med Genet A 143A:3150-60 (2007)
 DOI:10.1002/ajmg.a.32097
 PMID:23160277 (PAPA6)
 著者        Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W
 タイトル      Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
 雑誌        J Med Genet 50:47-53 (2013)
 DOI:10.1136/jmedgenet-2012-101219
 PMID:28488682 (PAPA7)
 著者        Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W
 タイトル      Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
 雑誌        Eur J Hum Genet 25:960-965 (2017)
 DOI:10.1038/ejhg.2017.83
 PMID:28973407 (PAPA8)
 著者        Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL
 タイトル      GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
 雑誌        Hum Mol Genet 26:4556-4571 (2017)
 DOI:10.1093/hmg/ddx335
 PMID:30395363 (PAPA9)
 著者        Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
 タイトル      FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
 雑誌        J Bone Miner Res 34:375-386 (2019)
 DOI:10.1002/jbmr.3594
 PMID:30982135 (PAPA10)
 著者        Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM
 タイトル      Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
 雑誌        Hum Genet 138:593-600 (2019)
 DOI:10.1007/s00439-019-02000-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01852"">H01852</a>",軸後性多指症,"Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on the ulnar/fibular side of hands/feet. A small projection of tissue or scar mark just below the proximal interphalangeal crease can also be the only clinical finding. PAP is clinically classified into type A (PAPA) with fully developed extra digit and type B (PAPB) with incompletely developed digit. PAPA is a genetically heterogeneous disorder and exhibits either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may be considered as a variant of PAPA1 in genetics.",,"(PAPA1,PAPB) GLI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2737"">2737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06230"">K06230</a>]
 (PAPA6) ZNF141 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7700"">7700</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09228"">K09228</a>]
 (PAPA7) IQCE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23288"">23288</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24677"">K24677</a>]
 (PAPA8) GLI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2735"">2735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16797"">K16797</a>]
 (PAPA9) FAM92A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:137392"">137392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23868"">K23868</a>]
 (PAPA10) KIAA0825 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285600"">285600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24554"">K24554</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01226"">H01226</a> GLI3 morphopathies.","ICD-11: LB78.2 LB78.3
 ICD-10: Q69.0 Q69.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562429"">C562429</a>
 OMIM: <a href=""https://www.omim.org/entry/174200"">174200</a> <a href=""https://www.omim.org/entry/615226"">615226</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26515020"">26515020</a>
 著者        Deng H, Tan T, Yuan L
 タイトル      Advances in the molecular genetics of non-syndromic polydactyly.
 雑誌        Expert Rev Mol Med 17:e18 (2015)
 DOI:<a href=""https://doi.org/10.1017/erm.2015.18"">10.1017/erm.2015.18</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25717468"">25717468</a>
 著者        Verma PK, El-Harouni AA
 タイトル      Review of literature: genes related to postaxial polydactyly.
 雑誌        Front Pediatr 3:8 (2015)
 DOI:<a href=""https://doi.org/10.3389/fped.2015.00008"">10.3389/fped.2015.00008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18000979"">18000979</a> (PAPA1,PAPB)
 著者        Furniss D, Critchley P, Giele H, Wilkie AO
 タイトル      Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
 雑誌        Am J Med Genet A 143A:3150-60 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32097"">10.1002/ajmg.a.32097</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23160277"">23160277</a> (PAPA6)
 著者        Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W
 タイトル      Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
 雑誌        J Med Genet 50:47-53 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101219"">10.1136/jmedgenet-2012-101219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28488682"">28488682</a> (PAPA7)
 著者        Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W
 タイトル      Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
 雑誌        Eur J Hum Genet 25:960-965 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.83"">10.1038/ejhg.2017.83</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28973407"">28973407</a> (PAPA8)
 著者        Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL
 タイトル      GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
 雑誌        Hum Mol Genet 26:4556-4571 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx335"">10.1093/hmg/ddx335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30395363"">30395363</a> (PAPA9)
 著者        Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
 タイトル      FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
 雑誌        J Bone Miner Res 34:375-386 (2019)
 DOI:<a href=""https://doi.org/10.1002/jbmr.3594"">10.1002/jbmr.3594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30982135"">30982135</a> (PAPA10)
 著者        Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM
 タイトル      Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
 雑誌        Hum Genet 138:593-600 (2019)
 DOI:<a href=""https://doi.org/10.1007/s00439-019-02000-0"">10.1007/s00439-019-02000-0</a>"
H01853,非特異性多発性小腸潰瘍症,,,"Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general fatigue, edema, and abdominal pain, appear during adolescence. The clinical course of the disease is chronic and intractable with reduced effects of immunosuppressive treatment. Recently, it has been indicated that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause CNSU.",消化器系疾患,,SLCO2A1 [HSA:6578] [KO:K14345],,,,,See also H00457 Primary hypertrophic osteoarthropathy,"ICD-11: DA94.01
 ICD-10: K63.3","PMID:26539716
 著者        Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T
 タイトル      A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
 雑誌        PLoS Genet 11:e1005581 (2015)
 DOI:10.1371/journal.pgen.1005581
 PMID:22115375
 著者        Matsumoto T, Kubokura N, Matsui T, Iida M, Yao T
 タイトル      Chronic nonspecific multiple ulcer of the small intestine segregates in offspring from consanguinity.
 雑誌        J Crohns Colitis 5:559-65 (2011)
 DOI:10.1016/j.crohns.2011.05.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01853"">H01853</a>",非特異性多発性小腸潰瘍症,"Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general fatigue, edema, and abdominal pain, appear during adolescence. The clinical course of the disease is chronic and intractable with reduced effects of immunosuppressive treatment. Recently, it has been indicated that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause CNSU.",,"SLCO2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6578"">6578</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14345"">K14345</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00457"">H00457</a> Primary hypertrophic osteoarthropathy","ICD-11: DA94.01
 ICD-10: K63.3","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26539716"">26539716</a>
 著者        Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T
 タイトル      A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
 雑誌        PLoS Genet 11:e1005581 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005581"">10.1371/journal.pgen.1005581</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22115375"">22115375</a>
 著者        Matsumoto T, Kubokura N, Matsui T, Iida M, Yao T
 タイトル      Chronic nonspecific multiple ulcer of the small intestine segregates in offspring from consanguinity.
 雑誌        J Crohns Colitis 5:559-65 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.crohns.2011.05.008"">10.1016/j.crohns.2011.05.008</a>"
H01854,第 4-5 中手骨癒合症,,,"Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ulnar deviation of the fifth fingers, clinodactyly, reduced mobility, and shortening of the fifth metacarpals. MF4 can occur in either an isolated manner or with other features, as part of a syndromal diagnosis, for example, in Kallmann syndrome. In most of the reported families, isolated MF4 was inherited in an X-linked recessive manner, although pedigrees typical of autosomal dominant inheritance have been described. Several reports provide evidence that mutations in FGF16 are associated with isolated X-linked recessive MF4. Syndactyly type V (SD5) is an isolated limb malformation showing partial clinical overlap with MF4, in which metacarpal but additionally metatarsal synostosis coexists with other hand and foot abnormalities clearly distinguishing the two conditions.",先天奇形,,FGF16 [HSA:8823] [KO:K04358],,,,,,"ICD-11: LB79.Y
 ICD-10: Q70.0
 MeSH: C564100
 OMIM: 309630","PMID:4538283
 著者        Holmes LB, Wolf E, Miettinen OS
 タイトル      Metacarpal 4-5 fusion with X-linked recessive inheritance.
 雑誌        Am J Hum Genet 24:562-8 (1972)
 PMID:23709756
 著者        Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S
 タイトル      Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
 雑誌        J Med Genet 50:579-84 (2013)
 DOI:10.1136/jmedgenet-2013-101659
 PMID:24706454
 著者        Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S
 タイトル      Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
 雑誌        Birth Defects Res A Clin Mol Teratol 100:314-8 (2014)
 DOI:10.1002/bdra.23239
 PMID:24878828
 著者        Jones B, Byers H, Watson JS, Newman WG
 タイトル      Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.
 雑誌        Clin Dysmorphol 23:95-7 (2014)
 DOI:10.1097/MCD.0000000000000043","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01854"">H01854</a>",第 4-5 中手骨癒合症,"Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ulnar deviation of the fifth fingers, clinodactyly, reduced mobility, and shortening of the fifth metacarpals. MF4 can occur in either an isolated manner or with other features, as part of a syndromal diagnosis, for example, in Kallmann syndrome. In most of the reported families, isolated MF4 was inherited in an X-linked recessive manner, although pedigrees typical of autosomal dominant inheritance have been described. Several reports provide evidence that mutations in FGF16 are associated with isolated X-linked recessive MF4. Syndactyly type V (SD5) is an isolated limb malformation showing partial clinical overlap with MF4, in which metacarpal but additionally metatarsal synostosis coexists with other hand and foot abnormalities clearly distinguishing the two conditions.",,"FGF16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8823"">8823</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]",,,,,,"ICD-11: LB79.Y
 ICD-10: Q70.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564100"">C564100</a>
 OMIM: <a href=""https://www.omim.org/entry/309630"">309630</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4538283"">4538283</a>
 著者        Holmes LB, Wolf E, Miettinen OS
 タイトル      Metacarpal 4-5 fusion with X-linked recessive inheritance.
 雑誌        Am J Hum Genet 24:562-8 (1972)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23709756"">23709756</a>
 著者        Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S
 タイトル      Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
 雑誌        J Med Genet 50:579-84 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101659"">10.1136/jmedgenet-2013-101659</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24706454"">24706454</a>
 著者        Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S
 タイトル      Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
 雑誌        Birth Defects Res A Clin Mol Teratol 100:314-8 (2014)
 DOI:<a href=""https://doi.org/10.1002/bdra.23239"">10.1002/bdra.23239</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24878828"">24878828</a>
 著者        Jones B, Byers H, Watson JS, Newman WG
 タイトル      Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.
 雑誌        Clin Dysmorphol 23:95-7 (2014)
 DOI:<a href=""https://doi.org/10.1097/MCD.0000000000000043"">10.1097/MCD.0000000000000043</a>"
H01855,胆道閉鎖症,,,"Biliary atresia (BA) is a congenital, fibro-obliterative obstructive cholangiopathy. It can be a devastating disease in infants invariably leading, if untreated, to cirrhosis, liver failure and death. Patients will be jaundiced and will have pale stools and dark urine. This is due to the inability to excrete conjugated bilirubin into the gastrointestinal tract, which is then excreted into the urine causing its color to darken. The cause of BA is not known with any degree of certainty, though there are a number of hypotheses. One prominent theory regarding the pathogenesis is that bile duct injury is initially caused by a viral infection, and then perpetuated by an autoimmune disorder. Surgical drainage, the only effective intervention, is successful only half of the time. Approximately 80% of patients require one or more liver transplantations with the associated morbidity and mortality issues caused by life-long transplant-related immunosuppression.",先天奇形,,,,,,,,"ICD-11: LB20.21
 ICD-10: Q44.2
 MeSH: D001656
 OMIM: 210500","PMID:25944310
 著者        Zagory JA, Nguyen MV, Wang KS
 タイトル      Recent advances in the pathogenesis and management of biliary atresia.
 雑誌        Curr Opin Pediatr 27:389-94 (2015)
 DOI:10.1097/MOP.0000000000000214
 PMID:15770587
 著者        Davenport M
 タイトル      Biliary atresia.
 雑誌        Semin Pediatr Surg 14:42-8 (2005)
 DOI:10.1053/j.sempedsurg.2004.10.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01855"">H01855</a>",胆道閉鎖症,"Biliary atresia (BA) is a congenital, fibro-obliterative obstructive cholangiopathy. It can be a devastating disease in infants invariably leading, if untreated, to cirrhosis, liver failure and death. Patients will be jaundiced and will have pale stools and dark urine. This is due to the inability to excrete conjugated bilirubin into the gastrointestinal tract, which is then excreted into the urine causing its color to darken. The cause of BA is not known with any degree of certainty, though there are a number of hypotheses. One prominent theory regarding the pathogenesis is that bile duct injury is initially caused by a viral infection, and then perpetuated by an autoimmune disorder. Surgical drainage, the only effective intervention, is successful only half of the time. Approximately 80% of patients require one or more liver transplantations with the associated morbidity and mortality issues caused by life-long transplant-related immunosuppression.",,,,,,,,"ICD-11: LB20.21
 ICD-10: Q44.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001656"">D001656</a>
 OMIM: <a href=""https://www.omim.org/entry/210500"">210500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25944310"">25944310</a>
 著者        Zagory JA, Nguyen MV, Wang KS
 タイトル      Recent advances in the pathogenesis and management of biliary atresia.
 雑誌        Curr Opin Pediatr 27:389-94 (2015)
 DOI:<a href=""https://doi.org/10.1097/MOP.0000000000000214"">10.1097/MOP.0000000000000214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15770587"">15770587</a>
 著者        Davenport M
 タイトル      Biliary atresia.
 雑誌        Semin Pediatr Surg 14:42-8 (2005)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2004.10.024"">10.1053/j.sempedsurg.2004.10.024</a>"
H01856,"総排泄腔外反症;
 膀胱腸裂",,,"Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia, a widely separated pubic bone, and defects or dysplasia of external genital organs. Cloacal exstrophy is thought to be related to abnormal development of the cloacal membrane, a transitory structure composed of endoderm and ectoderm that overlies the embryonic cloaca. The result is primarily an abdominal wall defect with failed closure of the lower urinary tract. Cloacal exstrophy has also been referred to as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defect), and other malformations of the urogenital, gastrointestinal, skeletal and neurospinal axis frequently coexist.",先天奇形,,,,,,,,"ICD-11: LB17.3
 ICD-10: Q64.1
 OMIM: 258040","PMID:25878926
 著者        Makiguchi T, Yokoo S, Takaku Y, Morita H, Yasuda M
 タイトル      Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy.
 雑誌        Plast Reconstr Surg Glob Open 3:e315 (2015)
 DOI:10.1097/GOX.0000000000000286
 PMID:19854104
 著者        Woo LL, Thomas JC, Brock JW
 タイトル      Cloacal exstrophy: a comprehensive review of an uncommon problem.
 雑誌        J Pediatr Urol 6:102-11 (2010)
 DOI:10.1016/j.jpurol.2009.09.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01856"">H01856</a>","総排泄腔外反症;
 膀胱腸裂","Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia, a widely separated pubic bone, and defects or dysplasia of external genital organs. Cloacal exstrophy is thought to be related to abnormal development of the cloacal membrane, a transitory structure composed of endoderm and ectoderm that overlies the embryonic cloaca. The result is primarily an abdominal wall defect with failed closure of the lower urinary tract. Cloacal exstrophy has also been referred to as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defect), and other malformations of the urogenital, gastrointestinal, skeletal and neurospinal axis frequently coexist.",,,,,,,,"ICD-11: LB17.3
 ICD-10: Q64.1
 OMIM: <a href=""https://www.omim.org/entry/258040"">258040</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25878926"">25878926</a>
 著者        Makiguchi T, Yokoo S, Takaku Y, Morita H, Yasuda M
 タイトル      Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy.
 雑誌        Plast Reconstr Surg Glob Open 3:e315 (2015)
 DOI:<a href=""https://doi.org/10.1097/GOX.0000000000000286"">10.1097/GOX.0000000000000286</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19854104"">19854104</a>
 著者        Woo LL, Thomas JC, Brock JW
 タイトル      Cloacal exstrophy: a comprehensive review of an uncommon problem.
 雑誌        J Pediatr Urol 6:102-11 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jpurol.2009.09.011"">10.1016/j.jpurol.2009.09.011</a>"
H01857,Filippi 症候群,,,"Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual facies. Syndactyly of hands and feet seems to be the hallmark of the syndrome; 3-4 finger syndactyly being the most common. The facial appearance, including prominent nasal bridge with hypoplastic alae nasi, is similar in all patients. It has been shown that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.",先天奇形,,CKAP2L [HSA:150468] [KO:K16769],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: C538152
 OMIM: 272440","PMID:4073130
 著者        Filippi G
 タイトル      Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
 雑誌        Am J Med Genet 22:821-4 (1985)
 DOI:10.1002/ajmg.1320220416
 PMID:26813917
 著者        Goyal L, Goyal JP, Bhakhri BK, Chug A
 タイトル      Filippi Syndrome: Report of a Rare Case.
 雑誌        J Clin Diagn Res 9:SD01-3 (2015)
 DOI:10.7860/JCDR/2015/14550.6945
 PMID:25439729
 著者        Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmuller J, Thiele H, Nurnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nurnberg P
 タイトル      Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
 雑誌        Am J Hum Genet 95:622-32 (2014)
 DOI:10.1016/j.ajhg.2014.10.008
 PMID:18553552
 著者        Battaglia A, Filippi T, Pusceddu S, Williams CA
 タイトル      Filippi syndrome: further clinical characterization.
 雑誌        Am J Med Genet A 146A:1848-52 (2008)
 DOI:10.1002/ajmg.a.32400","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01857"">H01857</a>",Filippi 症候群,"Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual facies. Syndactyly of hands and feet seems to be the hallmark of the syndrome; 3-4 finger syndactyly being the most common. The facial appearance, including prominent nasal bridge with hypoplastic alae nasi, is similar in all patients. It has been shown that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.",,"CKAP2L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:150468"">150468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16769"">K16769</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538152"">C538152</a>
 OMIM: <a href=""https://www.omim.org/entry/272440"">272440</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4073130"">4073130</a>
 著者        Filippi G
 タイトル      Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
 雑誌        Am J Med Genet 22:821-4 (1985)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320220416"">10.1002/ajmg.1320220416</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26813917"">26813917</a>
 著者        Goyal L, Goyal JP, Bhakhri BK, Chug A
 タイトル      Filippi Syndrome: Report of a Rare Case.
 雑誌        J Clin Diagn Res 9:SD01-3 (2015)
 DOI:<a href=""https://doi.org/10.7860/JCDR/2015/14550.6945"">10.7860/JCDR/2015/14550.6945</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25439729"">25439729</a>
 著者        Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmuller J, Thiele H, Nurnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nurnberg P
 タイトル      Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
 雑誌        Am J Hum Genet 95:622-32 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.008"">10.1016/j.ajhg.2014.10.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18553552"">18553552</a>
 著者        Battaglia A, Filippi T, Pusceddu S, Williams CA
 タイトル      Filippi syndrome: further clinical characterization.
 雑誌        Am J Med Genet A 146A:1848-52 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32400"">10.1002/ajmg.a.32400</a>"
H01858,総排泄腔遺残,,,"Persistent cloaca is an uncommon congenital anomaly in which there is a single perineal opening for the urinary, gastrointestinal, and reproductive tracts. It is the most severe form of anorectal malformation encountered in girls. The incidence is approximately 1 in 50,000 live births. Persistent cloaca results from abnormal development of the cloacal membrane before 50 days post fertilization. In addition to a single perineal opening, secondary urogenital or gastrointestinal anomalies are often associated with persistent cloaca. Moreover, anomalies of other organ systems such as cardiac or skeletal malformations are known to coexist. The common channel of persistent cloaca varies from 1 cm to 10 cm. Those cases with a common channel longer than 3 cm are predicted with the higher incidence of complications. For patients with a common channel greater than 3 cm, a laparotomy is usually required.",先天奇形,,,,,,,,"ICD-11: LB17.2
 ICD-10: Q43.7","PMID:25981991
 著者        Wang C, Li L, Cheng W, Liu S, Diao M, Li X, Qiao G, Zhang Z, Chen Z
 タイトル      A new approach for persistent cloaca: Laparoscopically assisted anorectoplasty and modified repair of urogenital sinus.
 雑誌        J Pediatr Surg 50:1236-40 (2015)
 DOI:10.1016/j.jpedsurg.2015.04.016
 PMID:22368130
 著者        Livingston JC, Elicevik M, Breech L, Crombleholme TM, Pena A, Levitt MA
 タイトル      Persistent cloaca: a 10-year review of prenatal diagnosis.
 雑誌        J Ultrasound Med 31:403-7 (2012)
 DOI:10.7863/jum.2012.31.3.403","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01858"">H01858</a>",総排泄腔遺残,"Persistent cloaca is an uncommon congenital anomaly in which there is a single perineal opening for the urinary, gastrointestinal, and reproductive tracts. It is the most severe form of anorectal malformation encountered in girls. The incidence is approximately 1 in 50,000 live births. Persistent cloaca results from abnormal development of the cloacal membrane before 50 days post fertilization. In addition to a single perineal opening, secondary urogenital or gastrointestinal anomalies are often associated with persistent cloaca. Moreover, anomalies of other organ systems such as cardiac or skeletal malformations are known to coexist. The common channel of persistent cloaca varies from 1 cm to 10 cm. Those cases with a common channel longer than 3 cm are predicted with the higher incidence of complications. For patients with a common channel greater than 3 cm, a laparotomy is usually required.",,,,,,,,"ICD-11: LB17.2
 ICD-10: Q43.7","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25981991"">25981991</a>
 著者        Wang C, Li L, Cheng W, Liu S, Diao M, Li X, Qiao G, Zhang Z, Chen Z
 タイトル      A new approach for persistent cloaca: Laparoscopically assisted anorectoplasty and modified repair of urogenital sinus.
 雑誌        J Pediatr Surg 50:1236-40 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jpedsurg.2015.04.016"">10.1016/j.jpedsurg.2015.04.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22368130"">22368130</a>
 著者        Livingston JC, Elicevik M, Breech L, Crombleholme TM, Pena A, Levitt MA
 タイトル      Persistent cloaca: a 10-year review of prenatal diagnosis.
 雑誌        J Ultrasound Med 31:403-7 (2012)
 DOI:<a href=""https://doi.org/10.7863/jum.2012.31.3.403"">10.7863/jum.2012.31.3.403</a>"
H01859,"オクシピタル・ホーン症候群
 上位グループ    メンケス症候群 [DS:H00209]",,,"Occipital horn syndrome (OHS), formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is a mildest form of Menkes disease (MD). MD and OHS are X-linked recessive disorders of impaired copper metabolism due to mutations in the ATP7A gene. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years. On the other hand, the neurological symptoms of OHS patients are milder and lead to a clinical picture mainly characterized by connective tissue manifestations and skeletal abnormalities that include occipital exostoses, which give rise to the syndrome's name. These patients have normal or close-to-normal cognitive functions.",先天代謝異常症; 皮膚および結合組織疾患,,ATP7A [HSA:538] [KO:K17686],,,,,"See also H00209 Menkes disease, H00557 Cutis laxa, and H00802 Ehlers-Danlos syndrome.","ICD-11: LD28.2
 ICD-10: E83.0
 MeSH: C537860
 OMIM: 304150","PMID:11669352
 著者        Palmer CA, Percy AK
 タイトル      Neuropathology of occipital horn syndrome.
 雑誌        J Child Neurol 16:764-6 (2001)
 DOI:10.1177/088307380101601011
 PMID:24002164
 著者        Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjorringe T, Moller LB
 タイトル      Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
 雑誌        Eur J Hum Genet 22:517-21 (2014)
 DOI:10.1038/ejhg.2013.191","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01859"">H01859</a>","オクシピタル・ホーン症候群
 上位グループ    メンケス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00209"">H00209</a>]","Occipital horn syndrome (OHS), formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is a mildest form of Menkes disease (MD). MD and OHS are X-linked recessive disorders of impaired copper metabolism due to mutations in the ATP7A gene. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years. On the other hand, the neurological symptoms of OHS patients are milder and lead to a clinical picture mainly characterized by connective tissue manifestations and skeletal abnormalities that include occipital exostoses, which give rise to the syndrome's name. These patients have normal or close-to-normal cognitive functions.",,"ATP7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:538"">538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17686"">K17686</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00209"">H00209</a> Menkes disease, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00557"">H00557</a> Cutis laxa, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a> Ehlers-Danlos syndrome.","ICD-11: LD28.2
 ICD-10: E83.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537860"">C537860</a>
 OMIM: <a href=""https://www.omim.org/entry/304150"">304150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11669352"">11669352</a>
 著者        Palmer CA, Percy AK
 タイトル      Neuropathology of occipital horn syndrome.
 雑誌        J Child Neurol 16:764-6 (2001)
 DOI:<a href=""https://doi.org/10.1177/088307380101601011"">10.1177/088307380101601011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24002164"">24002164</a>
 著者        Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjorringe T, Moller LB
 タイトル      Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
 雑誌        Eur J Hum Genet 22:517-21 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.191"">10.1038/ejhg.2013.191</a>"
H01860,"下垂体性ゴナドトロピン分泌異常症
 上位グループ    男子性腺機能不全症 [DS:H02027]",,,"There are two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Their general biological roles are the stimulation of testicular and ovarian functions via the regulation of gametogenesis and steroid hormone synthesis in the gonads. Synthesis and release of FSH is triggered by the arrival of gonadotropin-releasing hormone (GnRH) from the hypothalamus. LH is synthesized similarly within the pituitary gland, requiring the same stimulus as FSH, the GnRH from the hypothalamus. Both hypothalamic abnormalities and intrinsic pituitary abnormalities can cause an abnormal FSH/LH response to GnRH. Hypersecretion of gonadotropins are often associated with pituitary adenomas [DS:H01102] and central precocious puberty [DS:H00937]. Hyposecretion of gonadotropins [DS:H00255 H01700] in premenopausal women leads to absent menstrual cycles, infertility, vaginal dryness, and loss of some female characteristics. In men, this deficiency leads to impotence, atrophy of the testes, decreased sperm production, infertility, and loss of some male characteristics.",内分泌系疾患,,,,,,,"See also H01102 Pituitary adenomas, H00937 Precocious puberty, H00255 Hypogonadotropic hypogonadism, and H01700 Hypopituitarism.","ICD-11: 5A61.2
 ICD-10: E23.0
 MeSH: D006964 D007018
 OMIM: 613038","PMID:6267989
 著者        Pierce JG, Parsons TF
 タイトル      Glycoprotein hormones: structure and function.
 雑誌        Annu Rev Biochem 50:465-95 (1981)
 DOI:10.1146/annurev.bi.50.070181.002341
 PMID:15684903
 著者        Hanberg A
 タイトル      Common disorders of the pituitary gland: hyposecretion versus hypersecretion.
 雑誌        J Infus Nurs 28:36-44 (2005)
 DOI:10.1097/00129804-200501000-00005
 PMID:24722134
 著者        Ceccato F, Occhi G, Regazzo D, Randi ML, Cecchin D, Gardiman MP, Manara R, Lombardi G, Denaro L, Mantero F, Scaroni C
 タイトル      Gonadotropin secreting pituitary adenoma associated with erythrocytosis: case report and literature review.
 雑誌        Hormones (Athens) 13:131-9 (2014)
 DOI:10.1007/BF03401328","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01860"">H01860</a>","下垂体性ゴナドトロピン分泌異常症
 上位グループ    男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","There are two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Their general biological roles are the stimulation of testicular and ovarian functions via the regulation of gametogenesis and steroid hormone synthesis in the gonads. Synthesis and release of FSH is triggered by the arrival of gonadotropin-releasing hormone (GnRH) from the hypothalamus. LH is synthesized similarly within the pituitary gland, requiring the same stimulus as FSH, the GnRH from the hypothalamus. Both hypothalamic abnormalities and intrinsic pituitary abnormalities can cause an abnormal FSH/LH response to GnRH. Hypersecretion of gonadotropins are often associated with pituitary adenomas [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a>] and central precocious puberty [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00937]."">H00937].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Hyposecretion"">Hyposecretion</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gonadotropins"">gonadotropins</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>] in premenopausal women leads to absent menstrual cycles, infertility, vaginal dryness, and loss of some female characteristics. In men, this deficiency leads to impotence, atrophy of the testes, decreased sperm production, infertility, and loss of some male characteristics.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01102"">H01102</a> Pituitary adenomas, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00937"">H00937</a> Precocious puberty, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a> Hypogonadotropic hypogonadism, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a> Hypopituitarism.","ICD-11: 5A61.2
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006964"">D006964</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007018"">D007018</a>
 OMIM: <a href=""https://www.omim.org/entry/613038"">613038</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6267989"">6267989</a>
 著者        Pierce JG, Parsons TF
 タイトル      Glycoprotein hormones: structure and function.
 雑誌        Annu Rev Biochem 50:465-95 (1981)
 DOI:<a href=""https://doi.org/10.1146/annurev.bi.50.070181.002341"">10.1146/annurev.bi.50.070181.002341</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15684903"">15684903</a>
 著者        Hanberg A
 タイトル      Common disorders of the pituitary gland: hyposecretion versus hypersecretion.
 雑誌        J Infus Nurs 28:36-44 (2005)
 DOI:<a href=""https://doi.org/10.1097/00129804-200501000-00005"">10.1097/00129804-200501000-00005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24722134"">24722134</a>
 著者        Ceccato F, Occhi G, Regazzo D, Randi ML, Cecchin D, Gardiman MP, Manara R, Lombardi G, Denaro L, Mantero F, Scaroni C
 タイトル      Gonadotropin secreting pituitary adenoma associated with erythrocytosis: case report and literature review.
 雑誌        Hormones (Athens) 13:131-9 (2014)
 DOI:<a href=""https://doi.org/10.1007/BF03401328"">10.1007/BF03401328</a>"
H01861,"15q24 微細欠失症候群;
 Witteveen-Kolk 症候群",,,"Chromosome 15q24 microdeletion syndrome is a rare microdeletion syndrome characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. The recurrent deletions of chromosome 15q24 result from non-allelic homologous recombination (NAHR) mediated by low-copy repeat (LCR, also called segmental duplication) clusters. The deletion occurred as a de novo event in all known cases. Recent study has identified that haploinsufficiency of SIN3A (chromosome 15q24.2) is associated with mild syndromic intellectual disability. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome.",染色体異常,,SIN3A [HSA:25942] [KO:K11644],,,,,,"ICD-11: LD44.F
 ICD-10: Q93.5
 MeSH: C579849
 OMIM: 613406","PMID:17360722
 著者        Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE
 タイトル      Characterization of a recurrent 15q24 microdeletion syndrome.
 雑誌        Hum Mol Genet 16:567-72 (2007)
 DOI:10.1093/hmg/ddm016
 PMID:22216833
 著者        Magoulas PL, El-Hattab AW
 タイトル      Chromosome 15q24 microdeletion syndrome.
 雑誌        Orphanet J Rare Dis 7:2 (2012)
 DOI:10.1186/1750-1172-7-2
 PMID:22180641
 著者        Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE
 タイトル      Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
 雑誌        J Med Genet 49:110-8 (2012)
 DOI:10.1136/jmedgenet-2011-100499
 PMID:20678247
 著者        McInnes LA, Nakamine A, Pilorge M, Brandt T, Jimenez Gonzalez P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD
 タイトル      A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
 雑誌        Mol Autism 1:5 (2010)
 DOI:10.1186/2040-2392-1-5
 PMID:27399968
 著者        Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM
 タイトル      Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
 雑誌        Nat Genet 48:877-87 (2016)
 DOI:10.1038/ng.3619","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01861"">H01861</a>","15q24 微細欠失症候群;
 Witteveen-Kolk 症候群","Chromosome 15q24 microdeletion syndrome is a rare microdeletion syndrome characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. The recurrent deletions of chromosome 15q24 result from non-allelic homologous recombination (NAHR) mediated by low-copy repeat (LCR, also called segmental duplication) clusters. The deletion occurred as a de novo event in all known cases. Recent study has identified that haploinsufficiency of SIN3A (chromosome 15q24.2) is associated with mild syndromic intellectual disability. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome.",,"SIN3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25942"">25942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11644"">K11644</a>]",,,,,,"ICD-11: LD44.F
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579849"">C579849</a>
 OMIM: <a href=""https://www.omim.org/entry/613406"">613406</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17360722"">17360722</a>
 著者        Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE
 タイトル      Characterization of a recurrent 15q24 microdeletion syndrome.
 雑誌        Hum Mol Genet 16:567-72 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm016"">10.1093/hmg/ddm016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22216833"">22216833</a>
 著者        Magoulas PL, El-Hattab AW
 タイトル      Chromosome 15q24 microdeletion syndrome.
 雑誌        Orphanet J Rare Dis 7:2 (2012)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-7-2"">10.1186/1750-1172-7-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22180641"">22180641</a>
 著者        Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE
 タイトル      Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
 雑誌        J Med Genet 49:110-8 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100499"">10.1136/jmedgenet-2011-100499</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20678247"">20678247</a>
 著者        McInnes LA, Nakamine A, Pilorge M, Brandt T, Jimenez Gonzalez P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD
 タイトル      A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
 雑誌        Mol Autism 1:5 (2010)
 DOI:<a href=""https://doi.org/10.1186/2040-2392-1-5"">10.1186/2040-2392-1-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27399968"">27399968</a>
 著者        Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM
 タイトル      Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
 雑誌        Nat Genet 48:877-87 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3619"">10.1038/ng.3619</a>"
H01862,副甲状腺機能低下症,,,"Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for calcium homeostasis, vitamin D-dependant calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypocalcemic patients can present with a wide range of symptoms, including fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. The most common cause of hypoparathyroidism is iatrogenic in the setting of anterior neck surgery. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroids. Hypoparathyroidism may be further classified as isolated or syndromic. Genetic syndromes with hypoparathyroidism include DiGeorge syndrome (H01524), HDR syndrome (H01271), Kenny-Caffey syndrome (H00619), Kearns-Sayre syndrome (H01355), and so on. Isolated hypoparathyroidism has been reported as apparently sporadic, or as a familial trait with either autosomal dominant, autosomal recessive, or X chromosome-linked inheritance. Mutations in the preproPTH gene have been described in both autosomal dominant and autosomal recessive forms of familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin D analogs are critical in the treatment of hypocalcemia.",内分泌系疾患,nt06318  CaSR-PTH signaling,"PTH [HSA:5741] [KO:K05261]
 GCM2 [HSA:9247] [KO:K21598]",,,,"アルファカルシドール [DR:D01518]
 カルシトリオール [DR:D00129]
 ファレカルシトリオール [DR:D01662]","See also H01524 DiGeorge syndrome, H01271 HDR syndrome, H00619 Kenny-Caffey syndrome, and H01355 Kearns-Sayre syndrome.","ICD-11: 5A50
 ICD-10: E20
 MeSH: D007011
 OMIM: 146200","PMID:15728199
 著者        Thomee C, Schubert SW, Parma J, Le PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ
 タイトル      GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
 雑誌        J Clin Endocrinol Metab 90:2487-92 (2005)
 DOI:10.1210/jc.2004-2450
 PMID:2212001
 著者        Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM
 タイトル      Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
 雑誌        J Clin Invest 86:1084-7 (1990)
 DOI:10.1172/JCI114811
 PMID:11602629
 著者        Ding C, Buckingham B, Levine MA
 タイトル      Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
 雑誌        J Clin Invest 108:1215-20 (2001)
 DOI:10.1172/JCI13180
 PMID:22863393 (drug)
 著者        Al-Azem H, Khan AA
 タイトル      Hypoparathyroidism.
 雑誌        Best Pract Res Clin Endocrinol Metab 26:517-22 (2012)
 DOI:10.1016/j.beem.2012.01.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01862"">H01862</a>",副甲状腺機能低下症,"Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for calcium homeostasis, vitamin D-dependant calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypocalcemic patients can present with a wide range of symptoms, including fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. The most common cause of hypoparathyroidism is iatrogenic in the setting of anterior neck surgery. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroids. Hypoparathyroidism may be further classified as isolated or syndromic. Genetic syndromes with hypoparathyroidism include DiGeorge syndrome (H01524), HDR syndrome (H01271), Kenny-Caffey syndrome (H00619), Kearns-Sayre syndrome (H01355), and so on. Isolated hypoparathyroidism has been reported as apparently sporadic, or as a familial trait with either autosomal dominant, autosomal recessive, or X chromosome-linked inheritance. Mutations in the preproPTH gene have been described in both autosomal dominant and autosomal recessive forms of familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin D analogs are critical in the treatment of hypocalcemia.","<a href=""https://www.kegg.jp/network/nt06318"">nt06318</a>  CaSR-PTH signaling","PTH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5741"">5741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05261"">K05261</a>]
 GCM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9247"">9247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21598"">K21598</a>]",,,,"アルファカルシドール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01518"">D01518</a>]
 カルシトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00129"">D00129</a>]
 ファレカルシトリオール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01662"">D01662</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01524"">H01524</a> DiGeorge syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01271"">H01271</a> HDR syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00619"">H00619</a> Kenny-Caffey syndrome, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01355"">H01355</a> Kearns-Sayre syndrome.","ICD-11: 5A50
 ICD-10: E20
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007011"">D007011</a>
 OMIM: <a href=""https://www.omim.org/entry/146200"">146200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15728199"">15728199</a>
 著者        Thomee C, Schubert SW, Parma J, Le PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ
 タイトル      GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
 雑誌        J Clin Endocrinol Metab 90:2487-92 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-2450"">10.1210/jc.2004-2450</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2212001"">2212001</a>
 著者        Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM
 タイトル      Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
 雑誌        J Clin Invest 86:1084-7 (1990)
 DOI:<a href=""https://doi.org/10.1172/JCI114811"">10.1172/JCI114811</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11602629"">11602629</a>
 著者        Ding C, Buckingham B, Levine MA
 タイトル      Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
 雑誌        J Clin Invest 108:1215-20 (2001)
 DOI:<a href=""https://doi.org/10.1172/JCI13180"">10.1172/JCI13180</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22863393"">22863393</a> (drug)
 著者        Al-Azem H, Khan AA
 タイトル      Hypoparathyroidism.
 雑誌        Best Pract Res Clin Endocrinol Metab 26:517-22 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2012.01.004"">10.1016/j.beem.2012.01.004</a>"
H01863,アトピー性脊髄炎,,,"Atopic myelitis, also described as idiopathic eosinophilic myelitis, is a rare disease that consists of localised and persistent inflammation of the spinal cord. It has been reported predominantly in Japan. This disease has specific features of elevated serum IgE level, active reaction to mite or cedar pollen specific antigen and stepwise progression of mostly the sensory symptoms. Atopic myelitis is often with coexistent atopic diseases, such as atopic dermatitis, bronchial asthma, allergic rhinitis and food allergies. Although the pathogenesis is still poorly understood, it has been reported that CCL11 and IL-9 were significantly increased in patients with atopic myelitis. Upregulation of CCL11 and IL-9 explain quite well the eosinophilic inflammation of the spinal cord. It has been suggested that immunotherapy, such as corticosteroids, intravenous immunoglobulin (IVIG), and plasma exchanges (PE), are effective in atopic myelitis, and that PE is the most beneficial immunotherapy.",免疫系疾患,,,,,,,See also H00079 Asthma and H01358 Atopic dermatitis.,"ICD-11: 8B41
 ICD-10: G04.8","PMID:18809833
 著者        Tanaka M, Matsushita T, Tateishi T, Ochi H, Kawano Y, Mei FJ, Minohara M, Murai H, Kira JI
 タイトル      Distinct CSF cytokine/chemokine profiles in atopic myelitis and other causes of myelitis.
 雑誌        Neurology 71:974-81 (2008)
 DOI:10.1212/01.wnl.0000326589.57128.c3
 PMID:16782129
 著者        Gregoire SM, Mormont E, Laloux P, Godfraind C, Gilliard C
 タイトル      Atopic myelitis: a clinical, biological, radiological and histopathological diagnosis.
 雑誌        J Neurol Sci 247:231-5 (2006)
 DOI:10.1016/j.jns.2006.05.045
 PMID:15546590 (drug)
 著者        Murai H, Arahata H, Osoegawa M, Ochi H, Minohara M, Taniwaki T, Tobimatsu S, Mihara F, Tsuruta Y, Inaba S, Kira J
 タイトル      Effect of immunotherapy in myelitis with atopic diathesis.
 雑誌        J Neurol Sci 227:39-47 (2004)
 DOI:10.1016/j.jns.2004.08.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01863"">H01863</a>",アトピー性脊髄炎,"Atopic myelitis, also described as idiopathic eosinophilic myelitis, is a rare disease that consists of localised and persistent inflammation of the spinal cord. It has been reported predominantly in Japan. This disease has specific features of elevated serum IgE level, active reaction to mite or cedar pollen specific antigen and stepwise progression of mostly the sensory symptoms. Atopic myelitis is often with coexistent atopic diseases, such as atopic dermatitis, bronchial asthma, allergic rhinitis and food allergies. Although the pathogenesis is still poorly understood, it has been reported that CCL11 and IL-9 were significantly increased in patients with atopic myelitis. Upregulation of CCL11 and IL-9 explain quite well the eosinophilic inflammation of the spinal cord. It has been suggested that immunotherapy, such as corticosteroids, intravenous immunoglobulin (IVIG), and plasma exchanges (PE), are effective in atopic myelitis, and that PE is the most beneficial immunotherapy.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00079"">H00079</a> Asthma and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01358"">H01358</a> Atopic dermatitis.","ICD-11: 8B41
 ICD-10: G04.8","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18809833"">18809833</a>
 著者        Tanaka M, Matsushita T, Tateishi T, Ochi H, Kawano Y, Mei FJ, Minohara M, Murai H, Kira JI
 タイトル      Distinct CSF cytokine/chemokine profiles in atopic myelitis and other causes of myelitis.
 雑誌        Neurology 71:974-81 (2008)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000326589.57128.c3"">10.1212/01.wnl.0000326589.57128.c3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16782129"">16782129</a>
 著者        Gregoire SM, Mormont E, Laloux P, Godfraind C, Gilliard C
 タイトル      Atopic myelitis: a clinical, biological, radiological and histopathological diagnosis.
 雑誌        J Neurol Sci 247:231-5 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2006.05.045"">10.1016/j.jns.2006.05.045</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15546590"">15546590</a> (drug)
 著者        Murai H, Arahata H, Osoegawa M, Ochi H, Minohara M, Taniwaki T, Tobimatsu S, Mihara F, Tsuruta Y, Inaba S, Kira J
 タイトル      Effect of immunotherapy in myelitis with atopic diathesis.
 雑誌        J Neurol Sci 227:39-47 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2004.08.001"">10.1016/j.jns.2004.08.001</a>"
H01864,"下垂体性成長ホルモン分泌亢進症
 下位グループ    先端巨大症 [DS:H01483]
 下垂体性巨人症 [DS:H01618]",,,"Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism occurs much earlier in life when the skeleton still has the potential to grow, a developmental phase now known as prepubertal. Although most cases occur as a result of a sporadic GH-secreting pituitary adenoma, they can occur in a familial setting.",内分泌疾患,,"AIP [HSA:9049] [KO:K17767]
 GPR101 [HSA:83550] [KO:K08423]",,,,,,"ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: D000172 D005877
 OMIM: 102200 300943","PMID:22584702
 著者        Herder WW
 タイトル      Familial gigantism.
 雑誌        Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012)
 DOI:10.6061/clinics/2012(Sup01)06
 PMID:25470569
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:10.1056/NEJMoa1408028
 PMID:16728643
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:10.1126/science.1126100","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01864"">H01864</a>","下垂体性成長ホルモン分泌亢進症
 下位グループ    先端巨大症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01483"">H01483</a>]
 下垂体性巨人症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01618"">H01618</a>]","Excessive secretion of growth hormone (GH) causes acromegaly [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01483"">H01483</a>] and pituitary gigantism [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01618]."">H01618].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:They"">They</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:same"">same</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pathogenetic"">pathogenetic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mechanism,"">mechanism,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:differ"">differ</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:regarding"">regarding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:age"">age</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:onset."">onset.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Gigantism"">Gigantism</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occurs"">occurs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:much"">much</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:earlier"">earlier</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:life"">life</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:when"">when</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:skeleton"">skeleton</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:still"">still</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:potential"">potential</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:grow,"">grow,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:developmental"">developmental</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phase"">phase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:now"">now</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:known"">known</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:prepubertal."">prepubertal.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Although"">Although</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cases"">cases</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occur"">occur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:result"">result</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sporadic"">sporadic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:GH-secreting"">GH-secreting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:pituitary"">pituitary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adenoma,"">adenoma,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:they"">they</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occur"">occur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:familial"">familial</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:setting."">setting.</a>",,"AIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9049"">9049</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17767"">K17767</a>]
 GPR101 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83550"">83550</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08423"">K08423</a>]",,,,,,"ICD-11: 5A60.0
 ICD-10: E22.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000172"">D000172</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005877"">D005877</a>
 OMIM: <a href=""https://www.omim.org/entry/102200"">102200</a> <a href=""https://www.omim.org/entry/300943"">300943</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22584702"">22584702</a>
 著者        Herder WW
 タイトル      Familial gigantism.
 雑誌        Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012)
 DOI:<a href=""https://doi.org/10.6061/clinics/2012(Sup01)06"">10.6061/clinics/2012(Sup01)06</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25470569"">25470569</a>
 著者        Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
 タイトル      Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
 雑誌        N Engl J Med 371:2363-74 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1408028"">10.1056/NEJMoa1408028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16728643"">16728643</a>
 著者        Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA
 タイトル      Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
 雑誌        Science 312:1228-30 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1126100"">10.1126/science.1126100</a>"
H01865,多中心性手根足根骨溶解症症候群,,,"Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal bones. The early clinical appearance can mimic polyarticular juvenile idiopathic arthritis; however, subsequent clinical and radiographic appearances are characteristic. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients.",筋骨格疾患,,MAFB [HSA:9935] [KO:K09036],,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: C567171
 OMIM: 166300","PMID:14114021
 著者        SHURTLEFF DB, SPARKES RS, CLAWSON DK, GUNTHEROTH WG, MOTTET NK
 タイトル      HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY.
 雑誌        JAMA 188:363-8 (1964)
 DOI:10.1001/jama.1964.03060300025005
 PMID:24989131
 著者        Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP
 タイトル      Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
 雑誌        Am J Med Genet A 164A:2287-93 (2014)
 DOI:10.1002/ajmg.a.36641
 PMID:22387013
 著者        Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA
 タイトル      Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
 雑誌        Am J Hum Genet 90:494-501 (2012)
 DOI:10.1016/j.ajhg.2012.01.003
 PMID:23670161
 著者        Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M
 タイトル      An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
 雑誌        Int J Mol Med 32:174-8 (2013)
 DOI:10.3892/ijmm.2013.1373","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01865"">H01865</a>",多中心性手根足根骨溶解症症候群,"Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal bones. The early clinical appearance can mimic polyarticular juvenile idiopathic arthritis; however, subsequent clinical and radiographic appearances are characteristic. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients.",,"MAFB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9935"">9935</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09036"">K09036</a>]",,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567171"">C567171</a>
 OMIM: <a href=""https://www.omim.org/entry/166300"">166300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14114021"">14114021</a>
 著者        SHURTLEFF DB, SPARKES RS, CLAWSON DK, GUNTHEROTH WG, MOTTET NK
 タイトル      HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY.
 雑誌        JAMA 188:363-8 (1964)
 DOI:<a href=""https://doi.org/10.1001/jama.1964.03060300025005"">10.1001/jama.1964.03060300025005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24989131"">24989131</a>
 著者        Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP
 タイトル      Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
 雑誌        Am J Med Genet A 164A:2287-93 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36641"">10.1002/ajmg.a.36641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22387013"">22387013</a>
 著者        Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA
 タイトル      Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
 雑誌        Am J Hum Genet 90:494-501 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.01.003"">10.1016/j.ajhg.2012.01.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23670161"">23670161</a>
 著者        Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M
 タイトル      An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
 雑誌        Int J Mol Med 32:174-8 (2013)
 DOI:<a href=""https://doi.org/10.3892/ijmm.2013.1373"">10.3892/ijmm.2013.1373</a>"
H01866,肺静脈閉塞症／肺毛細血管腫症,,,"Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically characterized by intimal fibrosis that narrows and occludes pulmonary veins and it accounts for 5-10% of cases initially thought to be idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less commonly, airways. PCH has been reported to be much less frequent than PVOD. In recent years, PAH-targeted drugs including epoprostenol have improved the survival of patients with IPAH. PVOD/PCH has a very similar clinical presentation to PAH but is characterised by a worse prognosis and the possibility that severe pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD.",循環器疾患,,"(PVOD1) BMPR2 [HSA:659] [KO:K04671]
 (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]",,,,,See also H01621 Pulmonary arterial hypertension.,"ICD-11: BB01.0
 ICD-10: I27.0
 MeSH: D011668 C535861
 OMIM: 265450 234810","PMID:23312620
 著者        Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
 タイトル      Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis.
 雑誌        Cardiovasc Pathol 22:287-93 (2013)
 DOI:10.1016/j.carpath.2012.12.002
 PMID:19118230
 著者        Montani D, Price LC, Dorfmuller P, Achouh L, Jais X, Yaici A, Sitbon O, Musset D, Simonneau G, Humbert M
 タイトル      Pulmonary veno-occlusive disease.
 雑誌        Eur Respir J 33:189-200 (2009)
 DOI:10.1183/09031936.00090608
 PMID:12446270 (BMPR2)
 著者        Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA 3rd
 タイトル      Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.
 雑誌        Am J Respir Crit Care Med 167:889-94 (2003)
 DOI:10.1164/rccm.200208-861OC
 PMID:24292273 (EIF2AK4)
 著者        Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmuller P, Fadel E, Sitbon O, Simonneau G, Tregouet DA, Humbert M, Soubrier F
 タイトル      EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
 雑誌        Nat Genet 46:65-9 (2014)
 DOI:10.1038/ng.2844","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01866"">H01866</a>",肺静脈閉塞症／肺毛細血管腫症,"Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically characterized by intimal fibrosis that narrows and occludes pulmonary veins and it accounts for 5-10% of cases initially thought to be idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less commonly, airways. PCH has been reported to be much less frequent than PVOD. In recent years, PAH-targeted drugs including epoprostenol have improved the survival of patients with IPAH. PVOD/PCH has a very similar clinical presentation to PAH but is characterised by a worse prognosis and the possibility that severe pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD.",,"(PVOD1) BMPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:659"">659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04671"">K04671</a>]
 (PVOD2) EIF2AK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:440275"">440275</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16196"">K16196</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01621"">H01621</a> Pulmonary arterial hypertension.","ICD-11: BB01.0
 ICD-10: I27.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011668"">D011668</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535861"">C535861</a>
 OMIM: <a href=""https://www.omim.org/entry/265450"">265450</a> <a href=""https://www.omim.org/entry/234810"">234810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23312620"">23312620</a>
 著者        Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
 タイトル      Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis.
 雑誌        Cardiovasc Pathol 22:287-93 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.carpath.2012.12.002"">10.1016/j.carpath.2012.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19118230"">19118230</a>
 著者        Montani D, Price LC, Dorfmuller P, Achouh L, Jais X, Yaici A, Sitbon O, Musset D, Simonneau G, Humbert M
 タイトル      Pulmonary veno-occlusive disease.
 雑誌        Eur Respir J 33:189-200 (2009)
 DOI:<a href=""https://doi.org/10.1183/09031936.00090608"">10.1183/09031936.00090608</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12446270"">12446270</a> (BMPR2)
 著者        Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA 3rd
 タイトル      Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.
 雑誌        Am J Respir Crit Care Med 167:889-94 (2003)
 DOI:<a href=""https://doi.org/10.1164/rccm.200208-861OC"">10.1164/rccm.200208-861OC</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24292273"">24292273</a> (EIF2AK4)
 著者        Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmuller P, Fadel E, Sitbon O, Simonneau G, Tregouet DA, Humbert M, Soubrier F
 タイトル      EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
 雑誌        Nat Genet 46:65-9 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2844"">10.1038/ng.2844</a>"
H01867,"先天性腎尿路奇形
 下位グループ    難聴、耳の異常、成長遅滞を伴う先天性腎尿路奇形 (CAKUTHED)",,,"Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. The most severe cases of CAKUT (bilateral aplasia, hypoplasia, dysplasia, obstructive uropathy, and reflux nephropathy) are the leading cause of pediatric end-stage renal disease (ESRD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT.",先天奇形,,"(CAKUT1) DSTYK [HSA:25778] [KO:K16288]
 (CAKUT2) TBX18 [HSA:9096] [KO:K10183]
 (CAKUT3) NRIP1 [HSA:8204] [KO:K17965]
 (CAKUTHED) PBX1 [HSA:5087] [KO:K09355]",,,,,,"ICD-11: LB30 LB31
 ICD-10: Q62.0
 MeSH: C566906
 OMIM: 610805 143400 618270 617641","PMID:28161315
 著者        Rosenblum S, Pal A, Reidy K
 タイトル      Renal development in the fetus and premature infant.
 雑誌        Semin Fetal Neonatal Med 22:58-66 (2017)
 DOI:10.1016/j.siny.2017.01.001
 PMID:27617142
 著者        Uy N, Reidy K
 タイトル      Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.
 雑誌        J Pediatr Genet 5:51-60 (2016)
 DOI:10.1055/s-0035-1558423
 PMID:28398236
 著者        Capone VP, Morello W, Taroni F, Montini G
 タイトル      Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
 雑誌        Int J Mol Sci 18:E796 (2017)
 DOI:10.3390/ijms18040796
 PMID:26981222
 著者        Ramanathan S, Kumar D, Khanna M, Al Heidous M, Sheikh A, Virmani V, Palaniappan Y
 タイトル      Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.
 雑誌        World J Radiol 8:132-41 (2016)
 DOI:10.4329/wjr.v8.i2.132
 PMID:26235987
 著者        Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Juppner H, Kispert A, Hildebrandt F
 タイトル      Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
 雑誌        Am J Hum Genet 97:291-301 (2015)
 DOI:10.1016/j.ajhg.2015.07.001
 PMID:23862974
 著者        Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG
 タイトル      Mutations in DSTYK and dominant urinary tract malformations.
 雑誌        N Engl J Med 369:621-9 (2013)
 DOI:10.1056/NEJMoa1214479
 PMID:28381549
 著者        Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F
 タイトル      A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
 雑誌        J Am Soc Nephrol 28:2364-2376 (2017)
 DOI:10.1681/ASN.2016060694
 PMID:28566479
 著者        Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschke P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C
 タイトル      Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
 雑誌        J Am Soc Nephrol 28:2901-2914 (2017)
 DOI:10.1681/ASN.2017010043","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01867"">H01867</a>","先天性腎尿路奇形
 下位グループ    難聴、耳の異常、成長遅滞を伴う先天性腎尿路奇形 (CAKUTHED)","Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. The most severe cases of CAKUT (bilateral aplasia, hypoplasia, dysplasia, obstructive uropathy, and reflux nephropathy) are the leading cause of pediatric end-stage renal disease (ESRD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT.",,"(CAKUT1) DSTYK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25778"">25778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16288"">K16288</a>]
 (CAKUT2) TBX18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9096"">9096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10183"">K10183</a>]
 (CAKUT3) NRIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8204"">8204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17965"">K17965</a>]
 (CAKUTHED) PBX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5087"">5087</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09355"">K09355</a>]",,,,,,"ICD-11: LB30 LB31
 ICD-10: Q62.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566906"">C566906</a>
 OMIM: <a href=""https://www.omim.org/entry/610805"">610805</a> <a href=""https://www.omim.org/entry/143400"">143400</a> <a href=""https://www.omim.org/entry/618270"">618270</a> <a href=""https://www.omim.org/entry/617641"">617641</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28161315"">28161315</a>
 著者        Rosenblum S, Pal A, Reidy K
 タイトル      Renal development in the fetus and premature infant.
 雑誌        Semin Fetal Neonatal Med 22:58-66 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.siny.2017.01.001"">10.1016/j.siny.2017.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27617142"">27617142</a>
 著者        Uy N, Reidy K
 タイトル      Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.
 雑誌        J Pediatr Genet 5:51-60 (2016)
 DOI:<a href=""https://doi.org/10.1055/s-0035-1558423"">10.1055/s-0035-1558423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28398236"">28398236</a>
 著者        Capone VP, Morello W, Taroni F, Montini G
 タイトル      Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
 雑誌        Int J Mol Sci 18:E796 (2017)
 DOI:<a href=""https://doi.org/10.3390/ijms18040796"">10.3390/ijms18040796</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26981222"">26981222</a>
 著者        Ramanathan S, Kumar D, Khanna M, Al Heidous M, Sheikh A, Virmani V, Palaniappan Y
 タイトル      Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.
 雑誌        World J Radiol 8:132-41 (2016)
 DOI:<a href=""https://doi.org/10.4329/wjr.v8.i2.132"">10.4329/wjr.v8.i2.132</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26235987"">26235987</a>
 著者        Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Juppner H, Kispert A, Hildebrandt F
 タイトル      Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
 雑誌        Am J Hum Genet 97:291-301 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.001"">10.1016/j.ajhg.2015.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23862974"">23862974</a>
 著者        Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG
 タイトル      Mutations in DSTYK and dominant urinary tract malformations.
 雑誌        N Engl J Med 369:621-9 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1214479"">10.1056/NEJMoa1214479</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28381549"">28381549</a>
 著者        Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F
 タイトル      A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
 雑誌        J Am Soc Nephrol 28:2364-2376 (2017)
 DOI:<a href=""https://doi.org/10.1681/ASN.2016060694"">10.1681/ASN.2016060694</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28566479"">28566479</a>
 著者        Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschke P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C
 タイトル      Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
 雑誌        J Am Soc Nephrol 28:2901-2914 (2017)
 DOI:<a href=""https://doi.org/10.1681/ASN.2017010043"">10.1681/ASN.2017010043</a>"
H01868,"僧帽弁逸脱症
 下位グループ    家族性僧帽弁逸脱症
 Ｘ連鎖粘液腫性心臓弁膜ジストロフィー [DS:H02230]",,,"Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral regurgitation (MR), bacterial endocarditis, congestive heart failure, and even sudden death. According to the presently used echocardiographic criteria, MVP is defined as an upward displacement of the mitral leaflets that exceeds 2 mm during diastole. In classical MVP, the leaflets' maximal thickness is >5 mm, whereas in non-classical MVP it remains <5 mm. MVP may or may not have associated mitral regurgitation. MVP can be distinguished into primary or nonsyndromic MVP and secondary or syndromic MVP. In the latter case, MVP occurs in the presence of connective tissue disorders such as Marfan syndrome (MFS) [DS:H00653], Loeys-Dietz syndrome [DS:H00800], Ehlers-Danlos syndrome [DS:H00802], and osteogenesis imperfecta [DS:H00506]. Nonsyndromic MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP. Another locus on chromosome X has been found to cosegregate with a rare form of MVP called X-linked myxomatous valvular dystrophy.",循環器疾患,,"(MVP2) DCHS1 [HSA:8642] [KO:K16507]
 (MVP3) DZIP1 [HSA:22873] [KO:K16470]",,,,,,"ICD-11: BB62
 ICD-10: I34.1
 MeSH: D008945
 OMIM: 157700 607829 610840","PMID:24867995
 著者        Delling FN, Vasan RS
 タイトル      Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis.
 雑誌        Circulation 129:2158-70 (2014)
 DOI:10.1161/CIRCULATIONAHA.113.006702
 PMID:17850623
 著者        Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H
 タイトル      The genetics of mitral valve prolapse.
 雑誌        Clin Genet 72:288-95 (2007)
 DOI:10.1111/j.1399-0004.2007.00865.x
 PMID:10387935
 著者        Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL, Lehman B, Benjamin EJ
 タイトル      Prevalence and clinical outcome of mitral-valve prolapse.
 雑誌        N Engl J Med 341:1-7 (1999)
 DOI:10.1056/NEJM199907013410101
 PMID:26258302 (DCHS1)
 著者        Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA
 タイトル      Mutations in DCHS1 cause mitral valve prolapse.
 雑誌        Nature 525:109-13 (2015)
 DOI:10.1038/nature14670
 PMID:31118289 (DZIP1)
 著者        Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA
 タイトル      Primary cilia defects causing mitral valve prolapse.
 雑誌        Sci Transl Med 11:eaax0290 (2019)
 DOI:10.1126/scitranslmed.aax0290","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01868"">H01868</a>","僧帽弁逸脱症
 下位グループ    家族性僧帽弁逸脱症
 Ｘ連鎖粘液腫性心臓弁膜ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02230"">H02230</a>]","Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral regurgitation (MR), bacterial endocarditis, congestive heart failure, and even sudden death. According to the presently used echocardiographic criteria, MVP is defined as an upward displacement of the mitral leaflets that exceeds 2 mm during diastole. In classical MVP, the leaflets' maximal thickness is >5 mm, whereas in non-classical MVP it remains <5 mm. MVP may or may not have associated mitral regurgitation. MVP can be distinguished into primary or nonsyndromic MVP and secondary or syndromic MVP. In the latter case, MVP occurs in the presence of connective tissue disorders such as Marfan syndrome (MFS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653],"">H00653],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Loeys-Dietz"">Loeys-Dietz</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00800],"">H00800],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Ehlers-Danlos"">Ehlers-Danlos</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802],"">H00802],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:osteogenesis"">osteogenesis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:imperfecta"">imperfecta</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00506]."">H00506].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Nonsyndromic"">Nonsyndromic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MVP"">MVP</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:can"">can</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sporadic"">sporadic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:familial,"">familial,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:demonstrating"">demonstrating</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autosomal"">autosomal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dominant"">dominant</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inheritance."">inheritance.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Three"">Three</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:different"">different</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:loci"">loci</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:chromosomes"">chromosomes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:16,"">16,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:11"">11</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:13"">13</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:linked"">linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MVP."">MVP.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Another"">Another</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:locus"">locus</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:chromosome"">chromosome</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X"">X</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:found"">found</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cosegregate"">cosegregate</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rare"">rare</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:form"">form</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MVP"">MVP</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:called"">called</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:myxomatous"">myxomatous</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:valvular"">valvular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dystrophy."">dystrophy.</a>",,"(MVP2) DCHS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8642"">8642</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16507"">K16507</a>]
 (MVP3) DZIP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22873"">22873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16470"">K16470</a>]",,,,,,"ICD-11: BB62
 ICD-10: I34.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008945"">D008945</a>
 OMIM: <a href=""https://www.omim.org/entry/157700"">157700</a> <a href=""https://www.omim.org/entry/607829"">607829</a> <a href=""https://www.omim.org/entry/610840"">610840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24867995"">24867995</a>
 著者        Delling FN, Vasan RS
 タイトル      Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis.
 雑誌        Circulation 129:2158-70 (2014)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.113.006702"">10.1161/CIRCULATIONAHA.113.006702</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17850623"">17850623</a>
 著者        Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H
 タイトル      The genetics of mitral valve prolapse.
 雑誌        Clin Genet 72:288-95 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00865.x"">10.1111/j.1399-0004.2007.00865.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10387935"">10387935</a>
 著者        Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL, Lehman B, Benjamin EJ
 タイトル      Prevalence and clinical outcome of mitral-valve prolapse.
 雑誌        N Engl J Med 341:1-7 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199907013410101"">10.1056/NEJM199907013410101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26258302"">26258302</a> (DCHS1)
 著者        Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA
 タイトル      Mutations in DCHS1 cause mitral valve prolapse.
 雑誌        Nature 525:109-13 (2015)
 DOI:<a href=""https://doi.org/10.1038/nature14670"">10.1038/nature14670</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31118289"">31118289</a> (DZIP1)
 著者        Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA
 タイトル      Primary cilia defects causing mitral valve prolapse.
 雑誌        Sci Transl Med 11:eaax0290 (2019)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aax0290"">10.1126/scitranslmed.aax0290</a>"
H01869,"巨大膀胱短小結腸腸管蠕動不全症
 下位グループ    腹部ミオパチー",,,"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction. Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term outcome remains poor. Extensive surgical intervention is required for survival. Pathogenesis of MMIHS remains unclear but impaired peristalsis seems to be owing to abnormal ganglion cells pattern and absence of interstitial Cajal cells. While it is believed to be an autosomal recessive disorder, most cases are sporadic. It has been identified de novo ACTG2 mutations cause MMIHS.",先天奇形,,"(MMIHS1) MYLK [HSA:4638] [KO:K00907]
 (MMIHS2) MYH11 [HSA:4629] [KO:K10352]
 (MMIHS3) LMOD1 [HSA:25802] [KO:K22030]
 (MMIHS4) MYL9 [HSA:10398] [KO:K12755]
 (MMIHS5) ACTG2 [HSA:72] [KO:K12315]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q43.8
 MeSH: C536138
 OMIM: 155310 249210 619351 619362 619365 619431","PMID:23729700
 著者        Hiradfar M, Shojaeian R, Dehghanian P, Hajian S
 タイトル      Megacystis microcolon intestinal hypoperistalsis syndrome.
 雑誌        BMJ Case Rep 2013:bcr2012007524 (2013)
 DOI:10.1136/bcr-2012-007524
 PMID:28602422 (MMIHS1)
 著者        Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM
 タイトル      Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
 雑誌        Am J Hum Genet 101:123-129 (2017)
 DOI:10.1016/j.ajhg.2017.05.011
 PMID:25407000 (MMIHS2)
 著者        Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF
 タイトル      A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
 雑誌        Eur J Hum Genet 23:1266-8 (2015)
 DOI:10.1038/ejhg.2014.256
 PMID:28292896 (MMIHS3)
 著者        Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM
 タイトル      Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 114:E2739-E2747 (2017)
 DOI:10.1073/pnas.1620507114
 PMID:33031641 (MMIHS4)
 著者        Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y
 タイトル      Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
 雑誌        Mol Genet Genomic Med 8:e1516 (2020)
 DOI:10.1002/mgg3.1516
 PMID:24337657 (MMIHS5)
 著者        Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M
 タイトル      De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
 雑誌        Hum Genet 133:737-42 (2014)
 DOI:10.1007/s00439-013-1406-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01869"">H01869</a>","巨大膀胱短小結腸腸管蠕動不全症
 下位グループ    腹部ミオパチー","Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction. Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term outcome remains poor. Extensive surgical intervention is required for survival. Pathogenesis of MMIHS remains unclear but impaired peristalsis seems to be owing to abnormal ganglion cells pattern and absence of interstitial Cajal cells. While it is believed to be an autosomal recessive disorder, most cases are sporadic. It has been identified de novo ACTG2 mutations cause MMIHS.",,"(MMIHS1) MYLK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4638"">4638</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00907"">K00907</a>]
 (MMIHS2) MYH11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4629"">4629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]
 (MMIHS3) LMOD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25802"">25802</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22030"">K22030</a>]
 (MMIHS4) MYL9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10398"">10398</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12755"">K12755</a>]
 (MMIHS5) ACTG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:72"">72</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12315"">K12315</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q43.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536138"">C536138</a>
 OMIM: <a href=""https://www.omim.org/entry/155310"">155310</a> <a href=""https://www.omim.org/entry/249210"">249210</a> <a href=""https://www.omim.org/entry/619351"">619351</a> <a href=""https://www.omim.org/entry/619362"">619362</a> <a href=""https://www.omim.org/entry/619365"">619365</a> <a href=""https://www.omim.org/entry/619431"">619431</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23729700"">23729700</a>
 著者        Hiradfar M, Shojaeian R, Dehghanian P, Hajian S
 タイトル      Megacystis microcolon intestinal hypoperistalsis syndrome.
 雑誌        BMJ Case Rep 2013:bcr2012007524 (2013)
 DOI:<a href=""https://doi.org/10.1136/bcr-2012-007524"">10.1136/bcr-2012-007524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28602422"">28602422</a> (MMIHS1)
 著者        Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM
 タイトル      Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
 雑誌        Am J Hum Genet 101:123-129 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.011"">10.1016/j.ajhg.2017.05.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25407000"">25407000</a> (MMIHS2)
 著者        Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF
 タイトル      A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
 雑誌        Eur J Hum Genet 23:1266-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.256"">10.1038/ejhg.2014.256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28292896"">28292896</a> (MMIHS3)
 著者        Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM
 タイトル      Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
 雑誌        Proc Natl Acad Sci U S A 114:E2739-E2747 (2017)
 DOI:<a href=""https://doi.org/10.1073/pnas.1620507114"">10.1073/pnas.1620507114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33031641"">33031641</a> (MMIHS4)
 著者        Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y
 タイトル      Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
 雑誌        Mol Genet Genomic Med 8:e1516 (2020)
 DOI:<a href=""https://doi.org/10.1002/mgg3.1516"">10.1002/mgg3.1516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24337657"">24337657</a> (MMIHS5)
 著者        Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M
 タイトル      De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
 雑誌        Hum Genet 133:737-42 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1406-0"">10.1007/s00439-013-1406-0</a>"
H01870,小水無脳症,,,"Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identified.",先天奇形,,NDE1 [HSA:54820] [KO:K16738],,,,,,"ICD-11: LA05.62
 ICD-10: Q04.8
 MeSH: C537555
 OMIM: 605013","PMID:6702901
 著者        Russell LJ, Weaver DD, Bull MJ, Weinbaum M
 タイトル      In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence.
 雑誌        Am J Med Genet 17:509-21 (1984)
 DOI:10.1002/ajmg.1320170213
 PMID:22526350
 著者        Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A
 タイトル      Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
 雑誌        Neurogenetics 13:189-94 (2012)
 DOI:10.1007/s10048-012-0326-9
 PMID:20375726
 著者        Behunova J, Zavadilikova E, Bozoglu TM, Gunduz A, Tolun A, Yalcinkaya C
 タイトル      Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
 雑誌        Clin Dysmorphol 19:107-18 (2010)
 DOI:10.1097/MCD.0b013e32833946e9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01870"">H01870</a>",小水無脳症,"Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identified.",,"NDE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54820"">54820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16738"">K16738</a>]",,,,,,"ICD-11: LA05.62
 ICD-10: Q04.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537555"">C537555</a>
 OMIM: <a href=""https://www.omim.org/entry/605013"">605013</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6702901"">6702901</a>
 著者        Russell LJ, Weaver DD, Bull MJ, Weinbaum M
 タイトル      In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence.
 雑誌        Am J Med Genet 17:509-21 (1984)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320170213"">10.1002/ajmg.1320170213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22526350"">22526350</a>
 著者        Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A
 タイトル      Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
 雑誌        Neurogenetics 13:189-94 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10048-012-0326-9"">10.1007/s10048-012-0326-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20375726"">20375726</a>
 著者        Behunova J, Zavadilikova E, Bozoglu TM, Gunduz A, Tolun A, Yalcinkaya C
 タイトル      Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
 雑誌        Clin Dysmorphol 19:107-18 (2010)
 DOI:<a href=""https://doi.org/10.1097/MCD.0b013e32833946e9"">10.1097/MCD.0b013e32833946e9</a>"
H01871,腸管神経節細胞僅少症,,,"Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung disease (HD), and include severe acute and chronic constipation, ileus, and enterocolitis. Histologically, it is characterized by very low or absent activity of acetylcholinesterase (AChE) in the mucosa, a significant reduction of nerve cells in the myenteric plexus and the submucous plexus such as hypertrophic muscularis mucosae and circular muscle. Outcomes are highly dependent on the length of the affected bowel, prolonged use of total parenteral nutrition (TPN), and associated infections. IHG has been proposed as a distinct entity with two subtypes: congenital IHG (CIHG) and acquired IHG (AIHG). In most cases, the onset of symptoms of HD and CIHG is in the neonatal period or in infants younger than one year of age. In contrast, AIHG can present at any age, depending to some extent on the underlying etiology.",消化器系疾患,,,,,,,See also H00910 Hirschsprung disease (HD).,"ICD-11: LB16.Y DB32.3
 ICD-10: Q43.8
 MeSH: D006627
 OMIM: 202550","PMID:20721562
 著者        Dingemann J, Puri P
 タイトル      Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect.
 雑誌        Pediatr Surg Int 26:1111-5 (2010)
 DOI:10.1007/s00383-010-2693-3
 PMID:28401057
 著者        Khalaf R, Karjoo S, Danielson P, Wilsey M, Shakeel F
 タイトル      Intestinal Hypoganglionosis Leading to Intestinal Failure and the Compassionate Use of Omegaven.
 雑誌        Pediatr Gastroenterol Hepatol Nutr 20:55-60 (2017)
 DOI:10.5223/pghn.2017.20.1.55
 PMID:28424865
 著者        Yoshimaru K, Taguchi T, Obata S, Takemoto J, Takahashi Y, Iwanaka T, Yanagi Y, Kuda M, Miyoshi K, Matsuura T, Kinoshita Y, Yoshioka T, Nakazawa A, Oda Y
 タイトル      Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis.
 雑誌        Virchows Arch 470:679-685 (2017)
 DOI:10.1007/s00428-017-2128-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01871"">H01871</a>",腸管神経節細胞僅少症,"Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung disease (HD), and include severe acute and chronic constipation, ileus, and enterocolitis. Histologically, it is characterized by very low or absent activity of acetylcholinesterase (AChE) in the mucosa, a significant reduction of nerve cells in the myenteric plexus and the submucous plexus such as hypertrophic muscularis mucosae and circular muscle. Outcomes are highly dependent on the length of the affected bowel, prolonged use of total parenteral nutrition (TPN), and associated infections. IHG has been proposed as a distinct entity with two subtypes: congenital IHG (CIHG) and acquired IHG (AIHG). In most cases, the onset of symptoms of HD and CIHG is in the neonatal period or in infants younger than one year of age. In contrast, AIHG can present at any age, depending to some extent on the underlying etiology.",,,,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00910"">H00910</a> Hirschsprung disease (HD).","ICD-11: LB16.Y DB32.3
 ICD-10: Q43.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006627"">D006627</a>
 OMIM: <a href=""https://www.omim.org/entry/202550"">202550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20721562"">20721562</a>
 著者        Dingemann J, Puri P
 タイトル      Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect.
 雑誌        Pediatr Surg Int 26:1111-5 (2010)
 DOI:<a href=""https://doi.org/10.1007/s00383-010-2693-3"">10.1007/s00383-010-2693-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28401057"">28401057</a>
 著者        Khalaf R, Karjoo S, Danielson P, Wilsey M, Shakeel F
 タイトル      Intestinal Hypoganglionosis Leading to Intestinal Failure and the Compassionate Use of Omegaven.
 雑誌        Pediatr Gastroenterol Hepatol Nutr 20:55-60 (2017)
 DOI:<a href=""https://doi.org/10.5223/pghn.2017.20.1.55"">10.5223/pghn.2017.20.1.55</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28424865"">28424865</a>
 著者        Yoshimaru K, Taguchi T, Obata S, Takemoto J, Takahashi Y, Iwanaka T, Yanagi Y, Kuda M, Miyoshi K, Matsuura T, Kinoshita Y, Yoshioka T, Nakazawa A, Oda Y
 タイトル      Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis.
 雑誌        Virchows Arch 470:679-685 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00428-017-2128-9"">10.1007/s00428-017-2128-9</a>"
H01872,"小頭症-毛細血管異形成症候群
 上位グループ    小頭症症候群 [DS:H02132]",,,"Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay, and multiple small capillary malformations on the skin. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. Dysmorphic features include whorled hair pattern, low frontal hairline, hypertelorism, ptosis, epicanthic folds, long palpebral fissures, cleft palate, thin upper lip, short nose, low-set ears, and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.",先天奇形,,STAMBP [HSA:10617] [KO:K11866],,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 OMIM: 614261","PMID:21271646
 著者        Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL
 タイトル      A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
 雑誌        Am J Med Genet A 155A:301-6 (2011)
 DOI:10.1002/ajmg.a.33841
 PMID:21815250
 著者        Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB
 タイトル      The microcephaly-capillary malformation syndrome.
 雑誌        Am J Med Genet A 155A:2080-7 (2011)
 DOI:10.1002/ajmg.a.34118
 PMID:23542699
 著者        McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM
 タイトル      Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
 雑誌        Nat Genet 45:556-62 (2013)
 DOI:10.1038/ng.2602
 PMID:25266620
 著者        Pavlovic M, Neubauer D, Al Tawari A, Heberle LC
 タイトル      The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
 雑誌        Pediatr Neurol 51:560-5 (2014)
 DOI:10.1016/j.pediatrneurol.2014.07.006
 PMID:25692795
 著者        Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG
 タイトル      Novel STAMBP mutation and additional findings in an Arabic family.
 雑誌        Am J Med Genet A 167A:805-9 (2015)
 DOI:10.1002/ajmg.a.36782","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01872"">H01872</a>","小頭症-毛細血管異形成症候群
 上位グループ    小頭症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>]","Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay, and multiple small capillary malformations on the skin. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. Dysmorphic features include whorled hair pattern, low frontal hairline, hypertelorism, ptosis, epicanthic folds, long palpebral fissures, cleft palate, thin upper lip, short nose, low-set ears, and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.",,"STAMBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10617"">10617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11866"">K11866</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/614261"">614261</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21271646"">21271646</a>
 著者        Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL
 タイトル      A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
 雑誌        Am J Med Genet A 155A:301-6 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33841"">10.1002/ajmg.a.33841</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21815250"">21815250</a>
 著者        Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB
 タイトル      The microcephaly-capillary malformation syndrome.
 雑誌        Am J Med Genet A 155A:2080-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34118"">10.1002/ajmg.a.34118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23542699"">23542699</a>
 著者        McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM
 タイトル      Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
 雑誌        Nat Genet 45:556-62 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2602"">10.1038/ng.2602</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25266620"">25266620</a>
 著者        Pavlovic M, Neubauer D, Al Tawari A, Heberle LC
 タイトル      The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
 雑誌        Pediatr Neurol 51:560-5 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2014.07.006"">10.1016/j.pediatrneurol.2014.07.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25692795"">25692795</a>
 著者        Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG
 タイトル      Novel STAMBP mutation and additional findings in an Arabic family.
 雑誌        Am J Med Genet A 167A:805-9 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36782"">10.1002/ajmg.a.36782</a>"
H01873,閉塞性細気管支炎,,,"Obliterative bronchiolitis (OB), also known as bronchiolitis obliterans, is a rare but serious condition resulting in progressive and irreversible airway obstruction. This disease is the result of injury to the respiratory and terminal bronchioles from a wide variety of potential causes. Although the pathogenesis of OB remains poorly understood, it seems clear that a multifaceted process of inflammation and resultant fibrotic transition occurs, resulting in airflow limitation and development of disease. Although OB has been described in all age groups, the frequency of underlying causes and potential prognoses are different for children and adults. For example, OB in children is most often seen following a severe lower-respiratory-tract infection, usually of adenovirus, whereas OB in adults is more commonly associated with occupational inhalation injuries, hypersensitivity pneumonitis, and autoimmune disorders. In lung transplant recipients, bronchiolitis obliterans syndrome is the major cause of death after the first year of transplantation and is a form of allograft rejection. There is no uniformly accepted treatment protocol for patients with OB. Many patients are tried on corticosteroids or other immunosuppressants based on anecdotal evidence of improvement. However, these medications have significant toxicity.",呼吸器疾患,,,,,,,"In the present manuscript, the following terminology is used: ""bronchiolitis obliterans"" (historically used for the histopathological lesions) to name the pathological feature of reduced lumen of the bronchioles, and ""obliterative bronchiolitis"" (OB) to name its functional counterpart with airflow obstruction.","ICD-11: CA26.0 CA22.1
 ICD-10: J44.8
 MeSH: D001989","PMID:26335918
 著者        Aguilar PR, Michelson AP, Isakow W
 タイトル      Obliterative Bronchiolitis.
 雑誌        Transplantation 100:272-83 (2016)
 DOI:10.1097/TP.0000000000000892
 PMID:19129282
 著者        Devouassoux G, Cottin V, Liote H, Marchand E, Frachon I, Schuller A, Bejui-Thivolet F, Cordier JF
 タイトル      Characterisation of severe obliterative bronchiolitis in rheumatoid arthritis.
 雑誌        Eur Respir J 33:1053-61 (2009)
 DOI:10.1183/09031936.00091608
 PMID:18475095
 著者        Moonnumakal SP, Fan LL
 タイトル      Bronchiolitis obliterans in children.
 雑誌        Curr Opin Pediatr 20:272-8 (2008)
 DOI:10.1097/MOP.0b013e3282ff62e9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01873"">H01873</a>",閉塞性細気管支炎,"Obliterative bronchiolitis (OB), also known as bronchiolitis obliterans, is a rare but serious condition resulting in progressive and irreversible airway obstruction. This disease is the result of injury to the respiratory and terminal bronchioles from a wide variety of potential causes. Although the pathogenesis of OB remains poorly understood, it seems clear that a multifaceted process of inflammation and resultant fibrotic transition occurs, resulting in airflow limitation and development of disease. Although OB has been described in all age groups, the frequency of underlying causes and potential prognoses are different for children and adults. For example, OB in children is most often seen following a severe lower-respiratory-tract infection, usually of adenovirus, whereas OB in adults is more commonly associated with occupational inhalation injuries, hypersensitivity pneumonitis, and autoimmune disorders. In lung transplant recipients, bronchiolitis obliterans syndrome is the major cause of death after the first year of transplantation and is a form of allograft rejection. There is no uniformly accepted treatment protocol for patients with OB. Many patients are tried on corticosteroids or other immunosuppressants based on anecdotal evidence of improvement. However, these medications have significant toxicity.",,,,,,,"In the present manuscript, the following terminology is used: ""bronchiolitis obliterans"" (historically used for the histopathological lesions) to name the pathological feature of reduced lumen of the bronchioles, and ""obliterative bronchiolitis"" (OB) to name its functional counterpart with airflow obstruction.","ICD-11: CA26.0 CA22.1
 ICD-10: J44.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001989"">D001989</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26335918"">26335918</a>
 著者        Aguilar PR, Michelson AP, Isakow W
 タイトル      Obliterative Bronchiolitis.
 雑誌        Transplantation 100:272-83 (2016)
 DOI:<a href=""https://doi.org/10.1097/TP.0000000000000892"">10.1097/TP.0000000000000892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19129282"">19129282</a>
 著者        Devouassoux G, Cottin V, Liote H, Marchand E, Frachon I, Schuller A, Bejui-Thivolet F, Cordier JF
 タイトル      Characterisation of severe obliterative bronchiolitis in rheumatoid arthritis.
 雑誌        Eur Respir J 33:1053-61 (2009)
 DOI:<a href=""https://doi.org/10.1183/09031936.00091608"">10.1183/09031936.00091608</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18475095"">18475095</a>
 著者        Moonnumakal SP, Fan LL
 タイトル      Bronchiolitis obliterans in children.
 雑誌        Curr Opin Pediatr 20:272-8 (2008)
 DOI:<a href=""https://doi.org/10.1097/MOP.0b013e3282ff62e9"">10.1097/MOP.0b013e3282ff62e9</a>"
H01874,クロンカイト・カナダ症候群,,,"Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide, with 75% of cases in Japan. The average age of onset is 60 years and the male to female ratio is 3:2. At present, the pathogenesis of CCS is unknown, but the factors that include immune abnormalities, infection, and allergies, may be relevant. There are no evidence-based therapies. Numerous treatments have been attempted in CCS patients, with varying degrees of success. These treatments include glucocorticoids, nutritional support, antibiotics, and polypectomy.",消化器疾患,,,,,,,,"ICD-11: LD27.01
 ICD-10: D13.9
 MeSH: D044483
 OMIM: 175500","PMID:22675285
 著者        Sweetser S, Boardman LA
 タイトル      Cronkhite-Canada syndrome: an acquired condition of gastrointestinal polyposis and dermatologic abnormalities.
 雑誌        Gastroenterol Hepatol (N Y) 8:201-3 (2012)
 PMID:24966624
 著者        Wen XH, Wang L, Wang YX, Qian JM
 タイトル      Cronkhite-Canada syndrome: report of six cases and review of literature.
 雑誌        World J Gastroenterol 20:7518-22 (2014)
 DOI:10.3748/wjg.v20.i23.7518","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01874"">H01874</a>",クロンカイト・カナダ症候群,"Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide, with 75% of cases in Japan. The average age of onset is 60 years and the male to female ratio is 3:2. At present, the pathogenesis of CCS is unknown, but the factors that include immune abnormalities, infection, and allergies, may be relevant. There are no evidence-based therapies. Numerous treatments have been attempted in CCS patients, with varying degrees of success. These treatments include glucocorticoids, nutritional support, antibiotics, and polypectomy.",,,,,,,,"ICD-11: LD27.01
 ICD-10: D13.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D044483"">D044483</a>
 OMIM: <a href=""https://www.omim.org/entry/175500"">175500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22675285"">22675285</a>
 著者        Sweetser S, Boardman LA
 タイトル      Cronkhite-Canada syndrome: an acquired condition of gastrointestinal polyposis and dermatologic abnormalities.
 雑誌        Gastroenterol Hepatol (N Y) 8:201-3 (2012)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24966624"">24966624</a>
 著者        Wen XH, Wang L, Wang YX, Qian JM
 タイトル      Cronkhite-Canada syndrome: report of six cases and review of literature.
 雑誌        World J Gastroenterol 20:7518-22 (2014)
 DOI:<a href=""https://doi.org/10.3748/wjg.v20.i23.7518"">10.3748/wjg.v20.i23.7518</a>"
H01875,乳幼児肝血管腫,,,"Infantile hepatic hemangioma (IHH), although rare, is the most common benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree of unaffected liver parenchyma. Most lesions are clinically silent and self-limiting, whereas others can become symptomatic, manifesting as cardiac failure, fulminant hepatic failure and abdominal compartment syndrome. The term IHH is preferred to ""hemangioendothelioma"" because the clinical and biologic behavior is similar to infantile hemangiomas [DS:H01482] that affect the skin and other parts of the body.",脈管疾患,,,,,,,,"ICD-11: 2E81.2Y
 ICD-10: D18.00
 MeSH: D006391","PMID:14975986
 著者        Kassarjian A, Zurakowski D, Dubois J, Paltiel HJ, Fishman SJ, Burrows PE
 タイトル      Infantile hepatic hemangiomas: clinical and imaging findings and their correlation with therapy.
 雑誌        AJR Am J Roentgenol 182:785-95 (2004)
 DOI:10.2214/ajr.182.3.1820785
 PMID:17208542
 著者        Christison-Lagay ER, Burrows PE, Alomari A, Dubois J, Kozakewich HP, Lane TS, Paltiel HJ, Klement G, Mulliken JB, Fishman SJ
 タイトル      Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry.
 雑誌        J Pediatr Surg 42:62-7; discussion 67-8 (2007)
 DOI:10.1016/j.jpedsurg.2006.09.041
 PMID:22907522
 著者        Vergine G, Marsciani A, Pedini A, Brocchi S, Marsciani M, Desiderio E, Bertelli S, Vecchi V
 タイトル      Efficacy of propranolol treatment in thyroid dysfunction associated with severe infantile hepatic hemangioma.
 雑誌        Horm Res Paediatr 78:256-60 (2012)
 DOI:10.1159/000337253
 PMID:28056491 (drug)
 著者        Varrasso G, Schiavetti A, Lanciotti S, Sapio M, Ferrara E, Grazia A, Clerico A
 タイトル      Propranolol as first-line treatment for life-threatening diffuse infantile hepatic hemangioma: A case report.
 雑誌        Hepatology 66:283-285 (2017)
 DOI:10.1002/hep.29028
 PMID:25241093 (drug)
 著者        Hsi Dickie B, Fishman SJ, Azizkhan RG
 タイトル      Hepatic vascular tumors.
 雑誌        Semin Pediatr Surg 23:168-72 (2014)
 DOI:10.1053/j.sempedsurg.2014.06.018
 PMID:27610342 (drug)
 著者        Gnarra M, Behr G, Kitajewski A, Wu JK, Anupindi SA, Shawber CJ, Zavras N, Schizas D, Salakos C, Economopoulos KP
 タイトル      History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis.
 雑誌        World J Clin Pediatr 5:273-80 (2016)
 DOI:10.5409/wjcp.v5.i3.273","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01875"">H01875</a>",乳幼児肝血管腫,"Infantile hepatic hemangioma (IHH), although rare, is the most common benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree of unaffected liver parenchyma. Most lesions are clinically silent and self-limiting, whereas others can become symptomatic, manifesting as cardiac failure, fulminant hepatic failure and abdominal compartment syndrome. The term IHH is preferred to ""hemangioendothelioma"" because the clinical and biologic behavior is similar to infantile hemangiomas [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01482"">H01482</a>] that affect the skin and other parts of the body.",,,,,,,,"ICD-11: 2E81.2Y
 ICD-10: D18.00
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006391"">D006391</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14975986"">14975986</a>
 著者        Kassarjian A, Zurakowski D, Dubois J, Paltiel HJ, Fishman SJ, Burrows PE
 タイトル      Infantile hepatic hemangiomas: clinical and imaging findings and their correlation with therapy.
 雑誌        AJR Am J Roentgenol 182:785-95 (2004)
 DOI:<a href=""https://doi.org/10.2214/ajr.182.3.1820785"">10.2214/ajr.182.3.1820785</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17208542"">17208542</a>
 著者        Christison-Lagay ER, Burrows PE, Alomari A, Dubois J, Kozakewich HP, Lane TS, Paltiel HJ, Klement G, Mulliken JB, Fishman SJ
 タイトル      Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry.
 雑誌        J Pediatr Surg 42:62-7; discussion 67-8 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.jpedsurg.2006.09.041"">10.1016/j.jpedsurg.2006.09.041</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22907522"">22907522</a>
 著者        Vergine G, Marsciani A, Pedini A, Brocchi S, Marsciani M, Desiderio E, Bertelli S, Vecchi V
 タイトル      Efficacy of propranolol treatment in thyroid dysfunction associated with severe infantile hepatic hemangioma.
 雑誌        Horm Res Paediatr 78:256-60 (2012)
 DOI:<a href=""https://doi.org/10.1159/000337253"">10.1159/000337253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28056491"">28056491</a> (drug)
 著者        Varrasso G, Schiavetti A, Lanciotti S, Sapio M, Ferrara E, Grazia A, Clerico A
 タイトル      Propranolol as first-line treatment for life-threatening diffuse infantile hepatic hemangioma: A case report.
 雑誌        Hepatology 66:283-285 (2017)
 DOI:<a href=""https://doi.org/10.1002/hep.29028"">10.1002/hep.29028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25241093"">25241093</a> (drug)
 著者        Hsi Dickie B, Fishman SJ, Azizkhan RG
 タイトル      Hepatic vascular tumors.
 雑誌        Semin Pediatr Surg 23:168-72 (2014)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2014.06.018"">10.1053/j.sempedsurg.2014.06.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27610342"">27610342</a> (drug)
 著者        Gnarra M, Behr G, Kitajewski A, Wu JK, Anupindi SA, Shawber CJ, Zavras N, Schizas D, Salakos C, Economopoulos KP
 タイトル      History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis.
 雑誌        World J Clin Pediatr 5:273-80 (2016)
 DOI:<a href=""https://doi.org/10.5409/wjcp.v5.i3.273"">10.5409/wjcp.v5.i3.273</a>"
H01876,"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
 上位グループ    小頭症症候群 [DS:H02132]",,,"Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome, and chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum.",先天奇形,,KIF11 [HSA:3832] [KO:K10398],,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 MeSH: C537711
 OMIM: 152950","PMID:1415329
 著者        Feingold M, Bartoshesky L
 タイトル      Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
 雑誌        Am J Med Genet 43:1030-1 (1992)
 DOI:10.1002/ajmg.1320430623
 PMID:8556819
 著者        Fryns JP, Smeets E, Van den Berghe H
 タイトル      On the nosology of the ""primary true microcephaly, chorioretinal dysplasia, lymphoedema"" association.
 雑誌        Clin Genet 48:131-3 (1995)
 DOI:10.1111/j.1399-0004.1995.tb04072.x
 PMID:24281367
 著者        Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S
 タイトル      Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
 雑誌        Eur J Hum Genet 22:881-7 (2014)
 DOI:10.1038/ejhg.2013.263
 PMID:25934493
 著者        Schlogel MJ, Mendola A, Fastre E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M
 タイトル      No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
 雑誌        Orphanet J Rare Dis 10:52 (2015)
 DOI:10.1186/s13023-015-0271-4
 PMID:25115524
 著者        Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S
 タイトル      Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
 雑誌        Am J Med Genet A 164A:2879-86 (2014)
 DOI:10.1002/ajmg.a.36707
 PMID:22284827
 著者        Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S
 タイトル      Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
 雑誌        Am J Hum Genet 90:356-62 (2012)
 DOI:10.1016/j.ajhg.2011.12.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01876"">H01876</a>","Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
 上位グループ    小頭症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>]","Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome, and chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum.",,"KIF11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3832"">3832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10398"">K10398</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537711"">C537711</a>
 OMIM: <a href=""https://www.omim.org/entry/152950"">152950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1415329"">1415329</a>
 著者        Feingold M, Bartoshesky L
 タイトル      Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
 雑誌        Am J Med Genet 43:1030-1 (1992)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320430623"">10.1002/ajmg.1320430623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8556819"">8556819</a>
 著者        Fryns JP, Smeets E, Van den Berghe H
 タイトル      On the nosology of the ""primary true microcephaly, chorioretinal dysplasia, lymphoedema"" association.
 雑誌        Clin Genet 48:131-3 (1995)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1995.tb04072.x"">10.1111/j.1399-0004.1995.tb04072.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24281367"">24281367</a>
 著者        Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S
 タイトル      Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
 雑誌        Eur J Hum Genet 22:881-7 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2013.263"">10.1038/ejhg.2013.263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25934493"">25934493</a>
 著者        Schlogel MJ, Mendola A, Fastre E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M
 タイトル      No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
 雑誌        Orphanet J Rare Dis 10:52 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13023-015-0271-4"">10.1186/s13023-015-0271-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25115524"">25115524</a>
 著者        Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S
 タイトル      Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
 雑誌        Am J Med Genet A 164A:2879-86 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36707"">10.1002/ajmg.a.36707</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22284827"">22284827</a>
 著者        Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S
 タイトル      Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
 雑誌        Am J Hum Genet 90:356-62 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.018"">10.1016/j.ajhg.2011.12.018</a>"
H01877,15q13.3 微細欠失症候群,,,"Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side. About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, including developmental disability/intellectual disability, autism spectrum disorder, speech problems, and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion syndrome have been proposed to be caused by haploinsufficiency of CHRNA7, which is one of the seven genes.",染色体異常,,"CHRNA7 [HSA:1139] [KO:K04809]
 KLF13 [HSA:51621] [KO:K09208]
 TRPM1 [HSA:4308] [KO:K04976]
 FAN1 [HSA:22909] [KO:K15363]",,,,,"Other genes in the critical deleted region: MTMR10, MIR211, OTUD7A","ICD-11: LD44.F
 ICD-10: Q93.5
 MeSH: C567439
 OMIM: 612001","PMID:26754479
 著者        Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP
 タイトル      Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
 雑誌        J Autism Dev Disord 46:1455-63 (2016)
 DOI:10.1007/s10803-015-2694-0
 PMID:24824131
 著者        Tropeano M, Andrieux J, Vassos E, Collier DA
 タイトル      Clinical utility gene card for: 15q13.3 microdeletion syndrome.
 雑誌        Eur J Hum Genet 22:ejhg201488 (2014)
 DOI:10.1038/ejhg.2014.88","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01877"">H01877</a>",15q13.3 微細欠失症候群,"Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side. About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, including developmental disability/intellectual disability, autism spectrum disorder, speech problems, and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion syndrome have been proposed to be caused by haploinsufficiency of CHRNA7, which is one of the seven genes.",,"CHRNA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1139"">1139</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04809"">K04809</a>]
 KLF13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51621"">51621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09208"">K09208</a>]
 TRPM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4308"">4308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04976"">K04976</a>]
 FAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22909"">22909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15363"">K15363</a>]",,,,,"Other genes in the critical deleted region: MTMR10, MIR211, OTUD7A","ICD-11: LD44.F
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567439"">C567439</a>
 OMIM: <a href=""https://www.omim.org/entry/612001"">612001</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26754479"">26754479</a>
 著者        Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP
 タイトル      Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
 雑誌        J Autism Dev Disord 46:1455-63 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10803-015-2694-0"">10.1007/s10803-015-2694-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24824131"">24824131</a>
 著者        Tropeano M, Andrieux J, Vassos E, Collier DA
 タイトル      Clinical utility gene card for: 15q13.3 microdeletion syndrome.
 雑誌        Eur J Hum Genet 22:ejhg201488 (2014)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.88"">10.1038/ejhg.2014.88</a>"
H01878,Al-Raqad 症候群,,,"Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects, cognitive impairment, skeletal and cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of the 3' end mRNA decay pathway.",先天奇形,,DCPS [HSA:28960] [KO:K12584],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616459","PMID:25712129
 著者        Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Seraphin B, Reversade B
 タイトル      Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
 雑誌        Hum Mol Genet 24:3163-71 (2015)
 DOI:10.1093/hmg/ddv067
 PMID:25701870
 著者        Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
 タイトル      Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
 雑誌        Hum Mol Genet 24:3172-80 (2015)
 DOI:10.1093/hmg/ddv069","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01878"">H01878</a>",Al-Raqad 症候群,"Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects, cognitive impairment, skeletal and cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of the 3' end mRNA decay pathway.",,"DCPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28960"">28960</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12584"">K12584</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616459"">616459</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712129"">25712129</a>
 著者        Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Seraphin B, Reversade B
 タイトル      Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
 雑誌        Hum Mol Genet 24:3163-71 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv067"">10.1093/hmg/ddv067</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25701870"">25701870</a>
 著者        Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA
 タイトル      Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
 雑誌        Hum Mol Genet 24:3172-80 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv069"">10.1093/hmg/ddv069</a>"
H01879,"ウィデマンスタイナー症候群;
 Alazami-Yuan 症候群",,,"Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. Sharing clinical features with Cornelia de Lange syndrome, WDSTS is another heterogeneous disease. WDSTS is caused by heterozygous mutations in KMT2A, also known as MLL. KMT2A encodes a histone methyltransferase that plays an important role in early development and hematopoiesis. Recently, an autosomal-recessive disorder with Cornelia de Lange syndrome-like features has been reported and termed Alazami-Yuan syndrome. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component.",先天奇形,,"KMT2A [HSA:4297] [KO:K09186]
 TAF6 [HSA:6878] [KO:K03131]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: 605130 617126","PMID:25810209
 著者        Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
 タイトル      Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
 雑誌        Clin Genet 89:115-9 (2016)
 DOI:10.1111/cge.12586
 PMID:28359930
 著者        Aggarwal A, Rodriguez-Buritica DF, Northrup H
 タイトル      Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
 雑誌        Eur J Med Genet 60:285-288 (2017)
 DOI:10.1016/j.ejmg.2017.03.006
 PMID:25574841
 著者        Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
 タイトル      Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
 雑誌        J Clin Invest 125:636-51 (2015)
 DOI:10.1172/JCI77435","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01879"">H01879</a>","ウィデマンスタイナー症候群;
 Alazami-Yuan 症候群","Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay. Sharing clinical features with Cornelia de Lange syndrome, WDSTS is another heterogeneous disease. WDSTS is caused by heterozygous mutations in KMT2A, also known as MLL. KMT2A encodes a histone methyltransferase that plays an important role in early development and hematopoiesis. Recently, an autosomal-recessive disorder with Cornelia de Lange syndrome-like features has been reported and termed Alazami-Yuan syndrome. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component.",,"KMT2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4297"">4297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09186"">K09186</a>]
 TAF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6878"">6878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03131"">K03131</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/605130"">605130</a> <a href=""https://www.omim.org/entry/617126"">617126</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25810209"">25810209</a>
 著者        Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
 タイトル      Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
 雑誌        Clin Genet 89:115-9 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12586"">10.1111/cge.12586</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28359930"">28359930</a>
 著者        Aggarwal A, Rodriguez-Buritica DF, Northrup H
 タイトル      Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
 雑誌        Eur J Med Genet 60:285-288 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2017.03.006"">10.1016/j.ejmg.2017.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25574841"">25574841</a>
 著者        Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
 タイトル      Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
 雑誌        J Clin Invest 125:636-51 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI77435"">10.1172/JCI77435</a>"
H01880,"常染色体劣性遺伝性小頭症および網脈絡膜症
 上位グループ    小頭症症候群 [DS:H02132]",,,"Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described.",先天奇形,,"(MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573]
 (MCCRP2) PLK4 [HSA:10733] [KO:K08863]
 (MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]",,,,,,"ICD-11: 9B61
 ICD-10: Q87.8
 OMIM: 251270 616171 616335","PMID:5936364
 著者        McKusick VA, Stauffer M, Knox DL, Clark DB
 タイトル      Chorioretinopathy with hereditary microcephaly.
 雑誌        Arch Ophthalmol 75:597-600 (1966)
 DOI:10.1001/archopht.1966.00970050599003
 PMID:25817018
 著者        Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H
 タイトル      Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
 雑誌        Am J Hum Genet 96:666-74 (2015)
 DOI:10.1016/j.ajhg.2015.02.011
 PMID:27650967
 著者        Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H
 タイトル      Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
 雑誌        Eur J Hum Genet 24:1702-1706 (2016)
 DOI:10.1038/ejhg.2016.119
 PMID:22279524
 著者        Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA
 タイトル      Genetic mapping and exome sequencing identify variants associated with five novel diseases.
 雑誌        PLoS One 7:e28936 (2012)
 DOI:10.1371/journal.pone.0028936
 PMID:25344692
 著者        Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Muller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmuller J, Hohne W, Hurles ME, Noegel AA, Baig SM, Nurnberg P, Jackson AP
 タイトル      Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
 雑誌        Nat Genet 46:1283-92 (2014)
 DOI:10.1038/ng.3122
 PMID:25320347
 著者        Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS
 タイトル      Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
 雑誌        J Med Genet 51:814-6 (2014)
 DOI:10.1136/jmedgenet-2014-102790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01880"">H01880</a>","常染色体劣性遺伝性小頭症および網脈絡膜症
 上位グループ    小頭症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>]","Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described.",,"(MCCRP1) TUBGCP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85378"">85378</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16573"">K16573</a>]
 (MCCRP2) PLK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10733"">10733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08863"">K08863</a>]
 (MCCRP3) TUBGCP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27229"">27229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16571"">K16571</a>]",,,,,,"ICD-11: 9B61
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/251270"">251270</a> <a href=""https://www.omim.org/entry/616171"">616171</a> <a href=""https://www.omim.org/entry/616335"">616335</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5936364"">5936364</a>
 著者        McKusick VA, Stauffer M, Knox DL, Clark DB
 タイトル      Chorioretinopathy with hereditary microcephaly.
 雑誌        Arch Ophthalmol 75:597-600 (1966)
 DOI:<a href=""https://doi.org/10.1001/archopht.1966.00970050599003"">10.1001/archopht.1966.00970050599003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25817018"">25817018</a>
 著者        Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H
 タイトル      Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
 雑誌        Am J Hum Genet 96:666-74 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.011"">10.1016/j.ajhg.2015.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27650967"">27650967</a>
 著者        Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H
 タイトル      Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
 雑誌        Eur J Hum Genet 24:1702-1706 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.119"">10.1038/ejhg.2016.119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22279524"">22279524</a>
 著者        Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA
 タイトル      Genetic mapping and exome sequencing identify variants associated with five novel diseases.
 雑誌        PLoS One 7:e28936 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0028936"">10.1371/journal.pone.0028936</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25344692"">25344692</a>
 著者        Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Muller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmuller J, Hohne W, Hurles ME, Noegel AA, Baig SM, Nurnberg P, Jackson AP
 タイトル      Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
 雑誌        Nat Genet 46:1283-92 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3122"">10.1038/ng.3122</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25320347"">25320347</a>
 著者        Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS
 タイトル      Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
 雑誌        J Med Genet 51:814-6 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102790"">10.1136/jmedgenet-2014-102790</a>"
H01881,他の脳奇形を伴う複合皮質異形成,,,"Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes have been reported.",先天奇形,,"(CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
 (CDCBM2) KIF5C [HSA:3800] [KO:K10396]
 (CDCBM3) KIF2A [HSA:3796] [KO:K10393]
 (CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
 (CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
 (CDCBM6) TUBB [HSA:203068] [KO:K07375]
 (CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
 (CDCBM8) TUBA8 [HSA:51807] [KO:K07374]
 (CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
 (CDCBM10) APC2 [HSA:10297] [KO:K02085]",,,,,,"ICD-11: LA05.51
 ICD-10: Q04.8
 MeSH: D054220
 OMIM: 614039 615282 615411 615412 615763 615771 610031 613180 618174 618677","PMID:25059107
 著者        Fallet-Bianco C, Laquerriere A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonniere M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N
 タイトル      Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
 雑誌        Acta Neuropathol Commun 2:69 (2014)
 DOI:10.1186/2051-5960-2-69
 PMID:24812067
 著者        Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
 タイトル      Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
 雑誌        J Med Genet 51:487-94 (2014)
 DOI:10.1136/jmedgenet-2013-102182
 PMID:20829227
 著者        Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J
 タイトル      Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
 雑誌        Hum Mol Genet 19:4462-73 (2010)
 DOI:10.1093/hmg/ddq377
 PMID:19896110
 著者        Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E
 タイトル      Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
 雑誌        Am J Hum Genet 85:737-44 (2009)
 DOI:10.1016/j.ajhg.2009.10.007
 PMID:30013181
 著者        Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG
 タイトル      Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
 雑誌        Nat Genet 50:1093-1101 (2018)
 DOI:10.1038/s41588-018-0166-0
 PMID:31585108
 著者        Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG
 タイトル      Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
 雑誌        Am J Hum Genet 105:844-853 (2019)
 DOI:10.1016/j.ajhg.2019.08.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01881"">H01881</a>",他の脳奇形を伴う複合皮質異形成,"Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes have been reported.",,"(CDCBM1) TUBB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10381"">10381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (CDCBM2) KIF5C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3800"">3800</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10396"">K10396</a>]
 (CDCBM3) KIF2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3796"">3796</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10393"">K10393</a>]
 (CDCBM4) TUBG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7283"">7283</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10389"">K10389</a>]
 (CDCBM5) TUBB2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7280"">7280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (CDCBM6) TUBB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203068"">203068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (CDCBM7) TUBB2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:347733"">347733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (CDCBM8) TUBA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51807"">51807</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07374"">K07374</a>]
 (CDCBM9) CTNNA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1496"">1496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05691"">K05691</a>]
 (CDCBM10) APC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10297"">10297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]",,,,,,"ICD-11: LA05.51
 ICD-10: Q04.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054220"">D054220</a>
 OMIM: <a href=""https://www.omim.org/entry/614039"">614039</a> <a href=""https://www.omim.org/entry/615282"">615282</a> <a href=""https://www.omim.org/entry/615411"">615411</a> <a href=""https://www.omim.org/entry/615412"">615412</a> <a href=""https://www.omim.org/entry/615763"">615763</a> <a href=""https://www.omim.org/entry/615771"">615771</a> <a href=""https://www.omim.org/entry/610031"">610031</a> <a href=""https://www.omim.org/entry/613180"">613180</a> <a href=""https://www.omim.org/entry/618174"">618174</a> <a href=""https://www.omim.org/entry/618677"">618677</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25059107"">25059107</a>
 著者        Fallet-Bianco C, Laquerriere A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonniere M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N
 タイトル      Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
 雑誌        Acta Neuropathol Commun 2:69 (2014)
 DOI:<a href=""https://doi.org/10.1186/2051-5960-2-69"">10.1186/2051-5960-2-69</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24812067"">24812067</a>
 著者        Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
 タイトル      Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
 雑誌        J Med Genet 51:487-94 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102182"">10.1136/jmedgenet-2013-102182</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20829227"">20829227</a>
 著者        Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J
 タイトル      Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
 雑誌        Hum Mol Genet 19:4462-73 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq377"">10.1093/hmg/ddq377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19896110"">19896110</a>
 著者        Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E
 タイトル      Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
 雑誌        Am J Hum Genet 85:737-44 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.10.007"">10.1016/j.ajhg.2009.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30013181"">30013181</a>
 著者        Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG
 タイトル      Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
 雑誌        Nat Genet 50:1093-1101 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41588-018-0166-0"">10.1038/s41588-018-0166-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31585108"">31585108</a>
 著者        Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG
 タイトル      Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
 雑誌        Am J Hum Genet 105:844-853 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.08.013"">10.1016/j.ajhg.2019.08.013</a>"
H01882,アスペルガー症候群,,,"Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. AS may be present with several comorbid disorders including attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette syndrome. The standard pharmacotherapies typically administered to other comorbid disorders are also prescribed to AS patients. Although medication therapy may be beneficial in stabilizing AS patients, it does not cure the disorder. Cognitive behavioural therapy (CBT) may be an effective behavioral approach to implement, and it may also reduce the number of pharmacotherapies necessary for AS patients. The pathophysiology of AS remains unclear and the causes of AS are not known. The male-to-female ratio is 8:1 in AS. Genetic factors appear to play a role in AS because of their tendency to run in families and the high concordance in twins. However, a specific gene for AS has not been identified. Recent studies have suggested that the mutations in two X-linked genes, neuroligins NLGN3 and NLGN4 are associated with autism and AS.",精神及び行動の障害,,"NLGN3 [HSA:54413] [KO:K07378]
 NLGN4 [HSA:57502] [KO:K07378]",,,,,"See also H01662 Generalized anxiety disorder, H01653 Bipolar disorder, H01649 Schizophrenia, H01646 Major depressive disorder, and H00862 Tourette syndrome.","ICD-11: 6A02.0
 ICD-10: F84.5
 MeSH: D020817
 OMIM: 608638 300494 300497","PMID:25655905
 著者        Tarazi FI, Sahli ZT, Pleskow J, Mousa SA
 タイトル      Asperger's syndrome: diagnosis, comorbidity and therapy.
 雑誌        Expert Rev Neurother 15:281-93 (2015)
 DOI:10.1586/14737175.2015.1009898
 PMID:11708390
 著者        Gillberg C, Gillberg C, Rastam M, Wentz E
 タイトル      The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview.
 雑誌        Autism 5:57-66 (2001)
 DOI:10.1177/1362361301005001006
 PMID:12669065
 著者        Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T
 タイトル      Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
 雑誌        Nat Genet 34:27-9 (2003)
 DOI:10.1038/ng1136","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01882"">H01882</a>",アスペルガー症候群,"Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. AS may be present with several comorbid disorders including attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette syndrome. The standard pharmacotherapies typically administered to other comorbid disorders are also prescribed to AS patients. Although medication therapy may be beneficial in stabilizing AS patients, it does not cure the disorder. Cognitive behavioural therapy (CBT) may be an effective behavioral approach to implement, and it may also reduce the number of pharmacotherapies necessary for AS patients. The pathophysiology of AS remains unclear and the causes of AS are not known. The male-to-female ratio is 8:1 in AS. Genetic factors appear to play a role in AS because of their tendency to run in families and the high concordance in twins. However, a specific gene for AS has not been identified. Recent studies have suggested that the mutations in two X-linked genes, neuroligins NLGN3 and NLGN4 are associated with autism and AS.",,"NLGN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54413"">54413</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07378"">K07378</a>]
 NLGN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57502"">57502</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07378"">K07378</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01662"">H01662</a> Generalized anxiety disorder, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01653"">H01653</a> Bipolar disorder, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01649"">H01649</a> Schizophrenia, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01646"">H01646</a> Major depressive disorder, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00862"">H00862</a> Tourette syndrome.","ICD-11: 6A02.0
 ICD-10: F84.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020817"">D020817</a>
 OMIM: <a href=""https://www.omim.org/entry/608638"">608638</a> <a href=""https://www.omim.org/entry/300494"">300494</a> <a href=""https://www.omim.org/entry/300497"">300497</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25655905"">25655905</a>
 著者        Tarazi FI, Sahli ZT, Pleskow J, Mousa SA
 タイトル      Asperger's syndrome: diagnosis, comorbidity and therapy.
 雑誌        Expert Rev Neurother 15:281-93 (2015)
 DOI:<a href=""https://doi.org/10.1586/14737175.2015.1009898"">10.1586/14737175.2015.1009898</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11708390"">11708390</a>
 著者        Gillberg C, Gillberg C, Rastam M, Wentz E
 タイトル      The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview.
 雑誌        Autism 5:57-66 (2001)
 DOI:<a href=""https://doi.org/10.1177/1362361301005001006"">10.1177/1362361301005001006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12669065"">12669065</a>
 著者        Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T
 タイトル      Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
 雑誌        Nat Genet 34:27-9 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1136"">10.1038/ng1136</a>"
H01883,Nestor-Guillermo 早老症候群,,,"Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 gene was identified as the genetic basis of NGPS. This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.",先天性代謝異常症,,BANF1 [HSA:8815] [KO:K21870],,,,,"See also H00601 Hutchinson-Gilford progeria syndrome, H00076 Cockayne syndrome, and H01733 Werner syndrome.","ICD-11: LD2B
 ICD-10: E34.8
 MeSH: D011371
 OMIM: 614008","PMID:21932319
 著者        Cabanillas R, Cadinanos J, Villameytide JA, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C
 タイトル      Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
 雑誌        Am J Med Genet A 155A:2617-25 (2011)
 DOI:10.1002/ajmg.a.34249
 PMID:25495845
 著者        Paquet N, Box JK, Ashton NW, Suraweera A, Croft LV, Urquhart AJ, Bolderson E, Zhang SD, O'Byrne KJ, Richard DJ
 タイトル      Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation.
 雑誌        BMC Mol Biol 15:27 (2014)
 DOI:10.1186/s12867-014-0027-z
 PMID:32783369
 著者        Fisher HG, Patni N, Scheuerle AE
 タイトル      An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood.
 雑誌        Am J Med Genet A 182:2399-2402 (2020)
 DOI:10.1002/ajmg.a.61777","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01883"">H01883</a>",Nestor-Guillermo 早老症候群,"Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 gene was identified as the genetic basis of NGPS. This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.",,"BANF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8815"">8815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21870"">K21870</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00601"">H00601</a> Hutchinson-Gilford progeria syndrome, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076"">H00076</a> Cockayne syndrome, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01733"">H01733</a> Werner syndrome.","ICD-11: LD2B
 ICD-10: E34.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011371"">D011371</a>
 OMIM: <a href=""https://www.omim.org/entry/614008"">614008</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21932319"">21932319</a>
 著者        Cabanillas R, Cadinanos J, Villameytide JA, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C
 タイトル      Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
 雑誌        Am J Med Genet A 155A:2617-25 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34249"">10.1002/ajmg.a.34249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25495845"">25495845</a>
 著者        Paquet N, Box JK, Ashton NW, Suraweera A, Croft LV, Urquhart AJ, Bolderson E, Zhang SD, O'Byrne KJ, Richard DJ
 タイトル      Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation.
 雑誌        BMC Mol Biol 15:27 (2014)
 DOI:<a href=""https://doi.org/10.1186/s12867-014-0027-z"">10.1186/s12867-014-0027-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32783369"">32783369</a>
 著者        Fisher HG, Patni N, Scheuerle AE
 タイトル      An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood.
 雑誌        Am J Med Genet A 182:2399-2402 (2020)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61777"">10.1002/ajmg.a.61777</a>"
H01884,Auriculocondylar 症候群,,,"Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the PLCB4 and GNAI3, predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS.",先天奇形,,"GNAI3 [HSA:2773] [KO:K04630]
 PLCB4 [HSA:5332] [KO:K05858]
 EDN1 [HSA:1906] [KO:K16366]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: C538270
 OMIM: 602483 614669 615706 612798","PMID:22560091
 著者        Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
 タイトル      A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
 雑誌        Am J Hum Genet 90:907-14 (2012)
 DOI:10.1016/j.ajhg.2012.04.002
 PMID:24268655
 著者        Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
 タイトル      Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
 雑誌        Am J Hum Genet 93:1118-25 (2013)
 DOI:10.1016/j.ajhg.2013.10.023
 PMID:18680186
 著者        Shkalim V, Eliaz N, Linder N, Merlob P, Basel-Vanagaite L
 タイトル      Autosomal dominant isolated question mark ear.
 雑誌        Am J Med Genet A 146A:2280-3 (2008)
 DOI:10.1002/ajmg.a.32452","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01884"">H01884</a>",Auriculocondylar 症候群,"Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the PLCB4 and GNAI3, predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS.",,"GNAI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2773"">2773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04630"">K04630</a>]
 PLCB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5332"">5332</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05858"">K05858</a>]
 EDN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1906"">1906</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16366"">K16366</a>]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538270"">C538270</a>
 OMIM: <a href=""https://www.omim.org/entry/602483"">602483</a> <a href=""https://www.omim.org/entry/614669"">614669</a> <a href=""https://www.omim.org/entry/615706"">615706</a> <a href=""https://www.omim.org/entry/612798"">612798</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22560091"">22560091</a>
 著者        Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
 タイトル      A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
 雑誌        Am J Hum Genet 90:907-14 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.04.002"">10.1016/j.ajhg.2012.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24268655"">24268655</a>
 著者        Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
 タイトル      Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
 雑誌        Am J Hum Genet 93:1118-25 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.023"">10.1016/j.ajhg.2013.10.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18680186"">18680186</a>
 著者        Shkalim V, Eliaz N, Linder N, Merlob P, Basel-Vanagaite L
 タイトル      Autosomal dominant isolated question mark ear.
 雑誌        Am J Med Genet A 146A:2280-3 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32452"">10.1002/ajmg.a.32452</a>"
H01885,"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus 症候群;
 MPPH 症候群",,,"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia in the former, and progressive megalencephaly, polymicrogyria, and polydactyly in the latter. Polydactyly in MPPH seems to be a variable feature presenting with varied severity in both upper and lower limbs. MCAP and MPPH have been shown to result from gain-of-function mutations in the mTOR-pathway.",先天奇形,,"(MPPH1) PIK3R2 [HSA:5296] [KO:K02649]
 (MPPH2) AKT3 [HSA:10000] [KO:K04456]
 (MPPH3) CCND2 [HSA:894] [KO:K10151]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C566381
 OMIM: 603387 615937 615938","PMID:9129744
 著者        Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB
 タイトル      Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
 雑誌        Am J Med Genet 70:67-73 (1997)
 DOI:10.1002/(SICI)1096-8628(19970502)70:1<67::AID-AJMG13>3.0.CO;2-V
 PMID:15627943
 著者        Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB
 タイトル      Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
 雑誌        Neuropediatrics 35:353-9 (2004)
 DOI:10.1055/s-2004-830497
 PMID:28502730
 著者        Akgumus G, Chang F, Li MM
 タイトル      Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
 雑誌        J Mol Diagn 19:487-497 (2017)
 DOI:10.1016/j.jmoldx.2017.04.001
 PMID:24092603
 著者        Zamora TG, Roberts KD
 タイトル      Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
 雑誌        BMJ Case Rep 2013:bcr2012007826 (2013)
 DOI:10.1136/bcr-2012-007826
 PMID:28086757
 著者        Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S
 タイトル      A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
 雑誌        BMC Med Genet 18:4 (2017)
 DOI:10.1186/s12881-016-0363-6
 PMID:22228622
 著者        Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB
 タイトル      Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
 雑誌        Am J Med Genet A 158A:269-91 (2012)
 DOI:10.1002/ajmg.a.34402
 PMID:22729224
 著者        Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
 タイトル      De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
 雑誌        Nat Genet 44:934-40 (2012)
 DOI:10.1038/ng.2331
 PMID:24705253
 著者        Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Riviere JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG
 タイトル      De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
 雑誌        Nat Genet 46:510-5 (2014)
 DOI:10.1038/ng.2948","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01885"">H01885</a>","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus 症候群;
 MPPH 症候群","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02153"">H02153</a>] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia in the former, and progressive megalencephaly, polymicrogyria, and polydactyly in the latter. Polydactyly in MPPH seems to be a variable feature presenting with varied severity in both upper and lower limbs. MCAP and MPPH have been shown to result from gain-of-function mutations in the mTOR-pathway.",,"(MPPH1) PIK3R2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5296"">5296</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02649"">K02649</a>]
 (MPPH2) AKT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10000"">10000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]
 (MPPH3) CCND2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:894"">894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10151"">K10151</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566381"">C566381</a>
 OMIM: <a href=""https://www.omim.org/entry/603387"">603387</a> <a href=""https://www.omim.org/entry/615937"">615937</a> <a href=""https://www.omim.org/entry/615938"">615938</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9129744"">9129744</a>
 著者        Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB
 タイトル      Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
 雑誌        Am J Med Genet 70:67-73 (1997)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19970502)70:"">10.1002/(SICI)1096-8628(19970502)70:</a><a href=""https://doi.org/1<67:"">1<67:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG13>3.0.CO;2-V"">AID-AJMG13>3.0.CO;2-V</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15627943"">15627943</a>
 著者        Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB
 タイトル      Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
 雑誌        Neuropediatrics 35:353-9 (2004)
 DOI:<a href=""https://doi.org/10.1055/s-2004-830497"">10.1055/s-2004-830497</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28502730"">28502730</a>
 著者        Akgumus G, Chang F, Li MM
 タイトル      Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
 雑誌        J Mol Diagn 19:487-497 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jmoldx.2017.04.001"">10.1016/j.jmoldx.2017.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24092603"">24092603</a>
 著者        Zamora TG, Roberts KD
 タイトル      Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.
 雑誌        BMJ Case Rep 2013:bcr2012007826 (2013)
 DOI:<a href=""https://doi.org/10.1136/bcr-2012-007826"">10.1136/bcr-2012-007826</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28086757"">28086757</a>
 著者        Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S
 タイトル      A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
 雑誌        BMC Med Genet 18:4 (2017)
 DOI:<a href=""https://doi.org/10.1186/s12881-016-0363-6"">10.1186/s12881-016-0363-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22228622"">22228622</a>
 著者        Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB
 タイトル      Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
 雑誌        Am J Med Genet A 158A:269-91 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34402"">10.1002/ajmg.a.34402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22729224"">22729224</a>
 著者        Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
 タイトル      De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
 雑誌        Nat Genet 44:934-40 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2331"">10.1038/ng.2331</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24705253"">24705253</a>
 著者        Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Riviere JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG
 タイトル      De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
 雑誌        Nat Genet 46:510-5 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2948"">10.1038/ng.2948</a>"
H01886,Van den Ende-Gupta 症候群,,,"Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance has been suggested to be autosomal recessive, but several reports have suggested it to be autosomal dominant.",先天奇形,,SCARF2 [HSA:91179] [KO:K24319],,,,,,"ICD-11: LD26.41
 ICD-10: Q87.0
 MeSH: C535909
 OMIM: 600920","PMID:1609830
 著者        van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A
 タイトル      Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
 雑誌        Am J Med Genet 42:467-9 (1992)
 DOI:10.1002/ajmg.1320420411
 PMID:17937442
 著者        Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA
 タイトル      Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.
 雑誌        Am J Med Genet A 143A:2706-11 (2007)
 DOI:10.1002/ajmg.a.32007
 PMID:21108395
 著者        Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T
 タイトル      Further delineation of the Van den Ende-Gupta syndrome.
 雑誌        Am J Med Genet A 152A:3095-100 (2010)
 DOI:10.1002/ajmg.a.33725
 PMID:20887961
 著者        Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA
 タイトル      Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
 雑誌        Am J Hum Genet 87:553-9 (2010)
 DOI:10.1016/j.ajhg.2010.09.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01886"">H01886</a>",Van den Ende-Gupta 症候群,"Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance has been suggested to be autosomal recessive, but several reports have suggested it to be autosomal dominant.",,"SCARF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91179"">91179</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24319"">K24319</a>]",,,,,,"ICD-11: LD26.41
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535909"">C535909</a>
 OMIM: <a href=""https://www.omim.org/entry/600920"">600920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1609830"">1609830</a>
 著者        van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A
 タイトル      Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
 雑誌        Am J Med Genet 42:467-9 (1992)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320420411"">10.1002/ajmg.1320420411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17937442"">17937442</a>
 著者        Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA
 タイトル      Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.
 雑誌        Am J Med Genet A 143A:2706-11 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32007"">10.1002/ajmg.a.32007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21108395"">21108395</a>
 著者        Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T
 タイトル      Further delineation of the Van den Ende-Gupta syndrome.
 雑誌        Am J Med Genet A 152A:3095-100 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33725"">10.1002/ajmg.a.33725</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20887961"">20887961</a>
 著者        Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA
 タイトル      Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
 雑誌        Am J Hum Genet 87:553-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.005"">10.1016/j.ajhg.2010.09.005</a>"
H01887,3MC 症候群,,,"3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including developmental delay, growth and mental retardation, and characteristic facial dysmorphism, such as hypertelorism, telecanthus, blepharophimosis, blepharoptosis, and epicanthus inversus. 3MC syndrome was originally described as four separate disorders: Malpuech syndrome, Carnevale syndrome, Michels syndrome, and Mingarelli syndrome. There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion that they should all be considered part of the same phenotypic spectrum known as 3MC syndrome. Mutations in lectin complement pathway genes have been reported to cause 3MC syndrome.",先天奇形,,"(3MC1) MASP1 [HSA:5648] [KO:K03992]
 (3MC2) COLEC11 [HSA:78989] [KO:K10066]
 (3MC3) COLEC10 [HSA:10584] [KO:K10065]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535704 C537738 C535586
 OMIM: 257920 265050 248340","PMID:8933348
 著者        Mingarelli R, Castriota Scanderbeg A, Dallapiccola B
 タイトル      Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
 雑誌        J Med Genet 33:884-6 (1996)
 DOI:10.1136/jmg.33.10.884
 PMID:16096999
 著者        Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A
 タイトル      Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
 雑誌        Am J Med Genet A 137A:332-5 (2005)
 DOI:10.1002/ajmg.a.30878
 PMID:21258343 (MASP1 COLEC11)
 著者        Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL
 タイトル      Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
 雑誌        Nat Genet 43:197-203 (2011)
 DOI:10.1038/ng.757
 PMID:28301481 (COLEC10)
 著者        Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V
 タイトル      COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
 雑誌        PLoS Genet 13:e1006679 (2017)
 DOI:10.1371/journal.pgen.1006679","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01887"">H01887</a>",3MC 症候群,"3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including developmental delay, growth and mental retardation, and characteristic facial dysmorphism, such as hypertelorism, telecanthus, blepharophimosis, blepharoptosis, and epicanthus inversus. 3MC syndrome was originally described as four separate disorders: Malpuech syndrome, Carnevale syndrome, Michels syndrome, and Mingarelli syndrome. There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion that they should all be considered part of the same phenotypic spectrum known as 3MC syndrome. Mutations in lectin complement pathway genes have been reported to cause 3MC syndrome.",,"(3MC1) MASP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5648"">5648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03992"">K03992</a>]
 (3MC2) COLEC11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:78989"">78989</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10066"">K10066</a>]
 (3MC3) COLEC10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10584"">10584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10065"">K10065</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535704"">C535704</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537738"">C537738</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535586"">C535586</a>
 OMIM: <a href=""https://www.omim.org/entry/257920"">257920</a> <a href=""https://www.omim.org/entry/265050"">265050</a> <a href=""https://www.omim.org/entry/248340"">248340</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8933348"">8933348</a>
 著者        Mingarelli R, Castriota Scanderbeg A, Dallapiccola B
 タイトル      Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
 雑誌        J Med Genet 33:884-6 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.10.884"">10.1136/jmg.33.10.884</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16096999"">16096999</a>
 著者        Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A
 タイトル      Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
 雑誌        Am J Med Genet A 137A:332-5 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30878"">10.1002/ajmg.a.30878</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21258343"">21258343</a> (MASP1 <a href=""https://pubmed.ncbi.nlm.nih.gov/COLEC11)"">COLEC11)</a>
 著者        Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL
 タイトル      Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
 雑誌        Nat Genet 43:197-203 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.757"">10.1038/ng.757</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28301481"">28301481</a> (COLEC10)
 著者        Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V
 タイトル      COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
 雑誌        PLoS Genet 13:e1006679 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006679"">10.1371/journal.pgen.1006679</a>"
H01888,"カーペンター症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported that mutations in MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.",先天奇形,,"RAB23 [HSA:51715] [KO:K06234]
 MEGF8 [HSA:1954] [KO:K23664]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: C563187
 OMIM: 201000 614976","PMID:20358613
 著者        Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hebert JC, Cormier-Daire V
 タイトル      RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
 雑誌        Am J Med Genet A 152A:982-6 (2010)
 DOI:10.1002/ajmg.a.33327
 PMID:23063620
 著者        Twigg SR, Lloyd D, Jenkins D, Elcioglu NE, Cooper CD, Al-Sannaa N, Annagur A, Gillessen-Kaesbach G, Huning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO
 タイトル      Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
 雑誌        Am J Hum Genet 91:897-905 (2012)
 DOI:10.1016/j.ajhg.2012.08.027","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01888"">H01888</a>","カーペンター症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported that mutations in MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.",,"RAB23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51715"">51715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06234"">K06234</a>]
 MEGF8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1954"">1954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23664"">K23664</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563187"">C563187</a>
 OMIM: <a href=""https://www.omim.org/entry/201000"">201000</a> <a href=""https://www.omim.org/entry/614976"">614976</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20358613"">20358613</a>
 著者        Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hebert JC, Cormier-Daire V
 タイトル      RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
 雑誌        Am J Med Genet A 152A:982-6 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33327"">10.1002/ajmg.a.33327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23063620"">23063620</a>
 著者        Twigg SR, Lloyd D, Jenkins D, Elcioglu NE, Cooper CD, Al-Sannaa N, Annagur A, Gillessen-Kaesbach G, Huning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO
 タイトル      Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
 雑誌        Am J Hum Genet 91:897-905 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.027"">10.1016/j.ajhg.2012.08.027</a>"
H01889,"Meier-Gorlin 症候群;
 耳-膝蓋-低身長症候群",,,"Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.",先天奇形,,"(MGORS1) ORC1 [HSA:4998] [KO:K02603]
 (MGORS2) ORC4 [HSA:5000] [KO:K02606]
 (MGORS3) ORC6 [HSA:23594] [KO:K02608]
 (MGORS4) CDT1 [HSA:81620] [KO:K10727]
 (MGORS5) CDC6 [HSA:990] [KO:K02213]
 (MGORS6) GMNN [HSA:51053] [KO:K10749]
 (MGORS7) CDC45 [HSA:8318] [KO:K06628]
 (MGORS8) MCM5 [HSA:4174] [KO:K02209]",,,,,,"ICD-11: LD24.JY
 ICD-10: Q87.1
 MeSH: C538012
 OMIM: 224690 613800 613803 613804 613805 616835 617063 617564","PMID:26381604
 著者        de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
 タイトル      Meier-Gorlin syndrome.
 雑誌        Orphanet J Rare Dis 10:114 (2015)
 DOI:10.1186/s13023-015-0322-x
 PMID:21358633 (ORC1)
 著者        Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA
 タイトル      Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:350-5 (2011)
 DOI:10.1038/ng.776
 PMID:21358631 (ORC4)
 著者        Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME
 タイトル      Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:360-4 (2011)
 DOI:10.1038/ng.777
 PMID:21358632 (ORC1, ORC4, ORC6, CDT1, CDC6)
 著者        Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP
 タイトル      Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:356-9 (2011)
 DOI:10.1038/ng.775
 PMID:26637980 (GMNN)
 著者        Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y
 タイトル      De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
 雑誌        Am J Hum Genet 97:904-13 (2015)
 DOI:10.1016/j.ajhg.2015.11.006
 PMID:27374770 (CDC45)
 著者        Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
 タイトル      Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
 雑誌        Am J Hum Genet 99:125-38 (2016)
 DOI:10.1016/j.ajhg.2016.05.019
 PMID:28198391 (MCM5)
 著者        Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
 タイトル      MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
 雑誌        Eur J Hum Genet 25:646-650 (2017)
 DOI:10.1038/ejhg.2017.5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01889"">H01889</a>","Meier-Gorlin 症候群;
 耳-膝蓋-低身長症候群","Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.",,"(MGORS1) ORC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4998"">4998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02603"">K02603</a>]
 (MGORS2) ORC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5000"">5000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02606"">K02606</a>]
 (MGORS3) ORC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23594"">23594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02608"">K02608</a>]
 (MGORS4) CDT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81620"">81620</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10727"">K10727</a>]
 (MGORS5) CDC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:990"">990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02213"">K02213</a>]
 (MGORS6) GMNN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51053"">51053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10749"">K10749</a>]
 (MGORS7) CDC45 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8318"">8318</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06628"">K06628</a>]
 (MGORS8) MCM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4174"">4174</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02209"">K02209</a>]",,,,,,"ICD-11: LD24.JY
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538012"">C538012</a>
 OMIM: <a href=""https://www.omim.org/entry/224690"">224690</a> <a href=""https://www.omim.org/entry/613800"">613800</a> <a href=""https://www.omim.org/entry/613803"">613803</a> <a href=""https://www.omim.org/entry/613804"">613804</a> <a href=""https://www.omim.org/entry/613805"">613805</a> <a href=""https://www.omim.org/entry/616835"">616835</a> <a href=""https://www.omim.org/entry/617063"">617063</a> <a href=""https://www.omim.org/entry/617564"">617564</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26381604"">26381604</a>
 著者        de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
 タイトル      Meier-Gorlin syndrome.
 雑誌        Orphanet J Rare Dis 10:114 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13023-015-0322-x"">10.1186/s13023-015-0322-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21358633"">21358633</a> (ORC1)
 著者        Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA
 タイトル      Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:350-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.776"">10.1038/ng.776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21358631"">21358631</a> (ORC4)
 著者        Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME
 タイトル      Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:360-4 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.777"">10.1038/ng.777</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21358632"">21358632</a> (ORC1, <a href=""https://pubmed.ncbi.nlm.nih.gov/ORC4,"">ORC4,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/ORC6,"">ORC6,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDT1,"">CDT1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CDC6)"">CDC6)</a>
 著者        Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP
 タイトル      Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
 雑誌        Nat Genet 43:356-9 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.775"">10.1038/ng.775</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26637980"">26637980</a> (GMNN)
 著者        Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y
 タイトル      De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
 雑誌        Am J Hum Genet 97:904-13 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.11.006"">10.1016/j.ajhg.2015.11.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27374770"">27374770</a> (CDC45)
 著者        Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
 タイトル      Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
 雑誌        Am J Hum Genet 99:125-38 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.019"">10.1016/j.ajhg.2016.05.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28198391"">28198391</a> (MCM5)
 著者        Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
 タイトル      MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
 雑誌        Eur J Hum Genet 25:646-650 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.5"">10.1038/ejhg.2017.5</a>"
H01890,"模様黄斑ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:H01770]",,,"Pattern dystrophies of the retinal pigment epithelium (RPE) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition above the RPE within the macular area. From middle age, affected individuals present with either normal or slightly diminished best corrected visual acuity (BCVA) and color vision; the activity of the RPE as measured by electro-oculogram (EOG) recordings may be abnormal. The disease is relatively benign, but it can progress with age to chorioretinal atrophy in the parafoveal and peripapillary regions.",神経系疾患,,"(MDPT1) PRPH2 [HSA:5961] [KO:K17343]
 (MDPT2) CTNNA1 [HSA:1495] [KO:K05691]
 (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C536309
 OMIM: 169150 608970 617111","PMID:5442145
 著者        Deutman AF, van Blommestein JD, Henkes HE, Waardenburg PJ, Solleveld-van Driest E
 タイトル      Butterfly-shaped pigment dystrophy of the fovea.
 雑誌        Arch Ophthalmol 83:558-69 (1970)
 DOI:10.1001/archopht.1970.00990030558006
 PMID:26691986
 著者        Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI
 タイトル      Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
 雑誌        Nat Genet 48:144-51 (2016)
 DOI:10.1038/ng.3474
 PMID:24163680
 著者        Esteves F, Dolz-Marco R, Hernandez-Martinez P, Diaz-Llopis M, Gallego-Pinazo R
 タイトル      Pattern dystrophy of the macula in a case of steinert disease.
 雑誌        Case Rep Ophthalmol 4:129-33 (2013)
 DOI:10.1159/000355385
 PMID:15342701
 著者        den Hollander AI, van Lith-Verhoeven JJ, Kersten FF, Heister JG, de Kovel CG, Deutman AF, Hoyng CB, Cremers FP
 タイトル      Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.
 雑誌        J Med Genet 41:699-702 (2004)
 DOI:10.1136/jmg.2004.019562
 PMID:8485574
 著者        Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM
 タイトル      Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
 雑誌        Nat Genet 3:202-7 (1993)
 DOI:10.1038/ng0393-202
 PMID:26744326
 著者        Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quiles M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Pequignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP
 タイトル      A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
 雑誌        Hum Mol Genet 25:916-26 (2016)
 DOI:10.1093/hmg/ddv624","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01890"">H01890</a>","模様黄斑ジストロフィー
 上位グループ    黄斑ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01770"">H01770</a>]","Pattern dystrophies of the retinal pigment epithelium (RPE) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition above the RPE within the macular area. From middle age, affected individuals present with either normal or slightly diminished best corrected visual acuity (BCVA) and color vision; the activity of the RPE as measured by electro-oculogram (EOG) recordings may be abnormal. The disease is relatively benign, but it can progress with age to chorioretinal atrophy in the parafoveal and peripapillary regions.",,"(MDPT1) PRPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5961"">5961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17343"">K17343</a>]
 (MDPT2) CTNNA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1495"">1495</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05691"">K05691</a>]
 (MDPT3) MAPKAPK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7867"">7867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04444"">K04444</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536309"">C536309</a>
 OMIM: <a href=""https://www.omim.org/entry/169150"">169150</a> <a href=""https://www.omim.org/entry/608970"">608970</a> <a href=""https://www.omim.org/entry/617111"">617111</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5442145"">5442145</a>
 著者        Deutman AF, van Blommestein JD, Henkes HE, Waardenburg PJ, Solleveld-van Driest E
 タイトル      Butterfly-shaped pigment dystrophy of the fovea.
 雑誌        Arch Ophthalmol 83:558-69 (1970)
 DOI:<a href=""https://doi.org/10.1001/archopht.1970.00990030558006"">10.1001/archopht.1970.00990030558006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26691986"">26691986</a>
 著者        Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI
 タイトル      Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
 雑誌        Nat Genet 48:144-51 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3474"">10.1038/ng.3474</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24163680"">24163680</a>
 著者        Esteves F, Dolz-Marco R, Hernandez-Martinez P, Diaz-Llopis M, Gallego-Pinazo R
 タイトル      Pattern dystrophy of the macula in a case of steinert disease.
 雑誌        Case Rep Ophthalmol 4:129-33 (2013)
 DOI:<a href=""https://doi.org/10.1159/000355385"">10.1159/000355385</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15342701"">15342701</a>
 著者        den Hollander AI, van Lith-Verhoeven JJ, Kersten FF, Heister JG, de Kovel CG, Deutman AF, Hoyng CB, Cremers FP
 タイトル      Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.
 雑誌        J Med Genet 41:699-702 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.019562"">10.1136/jmg.2004.019562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8485574"">8485574</a>
 著者        Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM
 タイトル      Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
 雑誌        Nat Genet 3:202-7 (1993)
 DOI:<a href=""https://doi.org/10.1038/ng0393-202"">10.1038/ng0393-202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26744326"">26744326</a>
 著者        Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quiles M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Pequignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP
 タイトル      A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
 雑誌        Hum Mol Genet 25:916-26 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv624"">10.1093/hmg/ddv624</a>"
H01891,"常染色体劣性遺伝性脊髄小脳失調症
 下位グループ    常染色体劣性遺伝性脊髄小脳失調症および軸索性ニューロパチー (SCAN)",,,"Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and often the sensory nerves. They may present as a pure cerebellar syndrome or are associated with neurological symptoms such as peripheral neuropathy, dystonia, chorea, cognitive impairment, optic atrophy, seizures or extra neurological symptoms such as cardiomyopathy and diabetes mellitus in Friedreich ataxia. The main clinical features are staggering gait with frequent falls, upper limb dysmetria, impairment of speech, dysphagia, and abnormalities of eye movement.",神経変性疾患,,"(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706]
 (SCAR2) PMPCA [HSA:23203] [KO:K01412]
 (SCAR4) VPS13D [HSA:55187] [KO:K19527]
 (SCAR7) TPP1 [HSA:1200] [KO:K01279]
 (SCAR8) SYNE1 [HSA:23345] [KO:K19326]
 (SCAR9) COQ8A [HSA:56997] [KO:K08869]
 (SCAR10) ANO10 [HSA:55129] [KO:K19327]
 (SCAR11) SYT14 [HSA:255928] [KO:K19328]
 (SCAR12) WWOX [HSA:51741] [KO:K19329]
 (SCAR13) GRM1 [HSA:2911] [KO:K04603]
 (SCAR14) SPTBN2 [HSA:6712] [KO:K23932]
 (SCAR15) RUBCN [HSA:9711] [KO:K19330]
 (SCAR16) STUB1 [HSA:10273] [KO:K09561]
 (SCAR17) CWF19L1 [HSA:55280] [KO:K24939]
 (SCAR18) GRID2 [HSA:2895] [KO:K05207]
 (SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
 (SCAR20) SNX14 [HSA:57231] [KO:K17926]
 (SCAR21) SCYL1 [HSA:57410] [KO:K08876]
 (SCAR22) VWA3B [HSA:200403] [KO:K24509]
 (SCAR23) TDP2 [HSA:51567] [KO:K19619]
 (SCAR24) UBA5 [HSA:79876] [KO:K12164]
 (SCAR25) ATG5 [HSA:9474] [KO:K08339]
 (SCAR26) XRCC1 [HSA:7515] [KO:K10803]
 (SCAR27) GDAP2 [HSA:54834] [KO:K24997]
 (SCAR28) THG1L [HSA:54974] [KO:K10761]
 (SCAR29) VPS41 [HSA:27072] [KO:K20184]
 (SCAR30) PITRM1 [HSA:10531] [KO:K06972]
 (SCAR31) ATG7 [HSA:10533] [KO:K08337]
 (SCAN1) TDP1 [HSA:55775] [KO:K10862]
 (SCAN3) COA7 [HSA:65260] [KO:K18180]",,,,,"See also H00063 Spinocerebellar ataxia, H00067 Friedreich ataxia, and H00848 Ataxia with ocular apraxia.
 SCAR19 is known as Lichtenstein-Knorr syndrome, and associates sensorineural hearing loss.","ICD-11: 8A03.16
 ICD-10: G31.9
 MeSH: D020754
 OMIM: 606002 213200 607317 609270 610743 612016 613728 614229 614322 614831 615386 615705 615768 616127 616204 616291 616354 616719 616948 616949 617133 617584 617633 618369 618800 619389 619405 619422 607250 618387","PMID:19440741
 著者        Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
 タイトル      Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
 雑誌        Neurogenetics 11:1-12 (2010)
 DOI:10.1007/s10048-009-0196-y
 PMID:14770181 (SCAR1/SCAN2)
 著者        Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M
 タイトル      Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
 雑誌        Nat Genet 36:225-7 (2004)
 DOI:10.1038/ng1303
 PMID:26657514 (SCAR2)
 著者        Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tetreault M
 タイトル      Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
 雑誌        Brain 139:e19 (2016)
 DOI:10.1093/brain/awv362
 PMID:29604224 (SCAR4)
 著者        Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Bruggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Munchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M
 タイトル      Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
 雑誌        Ann Neurol 83:1075-1088 (2018)
 DOI:10.1002/ana.25220
 PMID:23418007 (SCAR7)
 著者        Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
 タイトル      Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
 雑誌        Hum Mutat 34:706-13 (2013)
 DOI:10.1002/humu.22292
 PMID:17159980 (SCAR8)
 著者        Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA
 タイトル      Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
 雑誌        Nat Genet 39:80-5 (2007)
 DOI:10.1038/ng1927
 PMID:18319074 (SCAR9)
 著者        Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M
 タイトル      ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
 雑誌        Am J Hum Genet 82:661-72 (2008)
 DOI:10.1016/j.ajhg.2007.12.024
 PMID:21092923 (SCAR10)
 著者        Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N
 タイトル      Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
 雑誌        Am J Hum Genet 87:813-9 (2010)
 DOI:10.1016/j.ajhg.2010.10.015
 PMID:21835308 (SCAR11)
 著者        Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
 タイトル      Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
 雑誌        Am J Hum Genet 89:320-7 (2011)
 DOI:10.1016/j.ajhg.2011.07.012
 PMID:24369382 (SCAR12)
 著者        Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M
 タイトル      The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
 雑誌        Brain 137:411-9 (2014)
 DOI:10.1093/brain/awt338
 PMID:22901947 (SCAR13)
 著者        Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
 タイトル      Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
 雑誌        Am J Hum Genet 91:553-64 (2012)
 DOI:10.1016/j.ajhg.2012.07.019
 PMID:23236289 (SCAR14)
 著者        Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Nemeth AH
 タイトル      Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development.
 雑誌        PLoS Genet 8:e1003074 (2012)
 DOI:10.1371/journal.pgen.1003074
 PMID:20826435 (SCAR15)
 著者        Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M
 タイトル      Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
 雑誌        Brain 133:2439-47 (2010)
 DOI:10.1093/brain/awq181
 PMID:24312598 (SCAR16)
 著者        Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B
 タイトル      Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
 雑誌        PLoS One 8:e81884 (2013)
 DOI:10.1371/journal.pone.0081884
 PMID:27016154 (SCAR17)
 著者        Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsasser M, Pinkert S, Schlesner M, Bartram CR, Moog U
 タイトル      Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
 雑誌        Am J Med Genet A 170:1502-9 (2016)
 DOI:10.1002/ajmg.a.37632
 PMID:24078737 (SCAR18)
 著者        Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
 タイトル      Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
 雑誌        Neurology 81:1378-86 (2013)
 DOI:10.1212/WNL.0b013e3182a841a3
 PMID:25205112 (SCAR19)
 著者        Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M
 タイトル      Mutation of SLC9A1, encoding the major Na(+)/H(+) exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
 雑誌        Hum Mol Genet 24:463-70 (2015)
 DOI:10.1093/hmg/ddu461
 PMID:25848753 (SCAR20)
 著者        Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG
 タイトル      Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
 雑誌        Nat Genet 47:528-34 (2015)
 DOI:10.1038/ng.3256
 PMID:17571074 (SCAR21)
 著者        Schmidt WM, Kraus C, Hoger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE
 タイトル      Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
 雑誌        EMBO Rep 8:691-7 (2007)
 DOI:10.1038/sj.embor.7401001
 PMID:26157035 (SCAR22)
 著者        Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R
 タイトル      A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
 雑誌        J Neurol Neurosurg Psychiatry 87:656-62 (2016)
 DOI:10.1136/jnnp-2014-309828
 PMID:24658003 (SCAR23)
 著者        Gomez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortes-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW
 タイトル      TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
 雑誌        Nat Genet 46:516-21 (2014)
 DOI:10.1038/ng.2929
 PMID:26872069 (SCAR24)
 著者        Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B
 タイトル      UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
 雑誌        PLoS One 11:e0149039 (2016)
 DOI:10.1371/journal.pone.0149039
 PMID:28002403 (SCAR26)
 著者        Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW
 タイトル      XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
 雑誌        Nature 541:87-91 (2017)
 DOI:10.1038/nature20790
 PMID:30084953 (SCAR27)
 著者        Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schule R, Zuchner S, De Jonghe P, Schenck A, van de Warrenburg BP
 タイトル      GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
 雑誌        Brain 141:2592-2604 (2018)
 DOI:10.1093/brain/awy198
 PMID:27307223 (SCAR28)
 著者        Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbe K, Shaag A, Jackman JE, Elpeleg O
 タイトル      A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
 雑誌        Neurogenetics 17:219-225 (2016)
 DOI:10.1007/s10048-016-0487-z
 PMID:33764426 (SCAR29)
 著者        Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kuhn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N
 タイトル      Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
 雑誌        Brain 144:769-780 (2021)
 DOI:10.1093/brain/awaa459
 PMID:26697887 (SCAR30)
 著者        Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA
 タイトル      Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration.
 雑誌        EMBO Mol Med 8:176-90 (2016)
 DOI:10.15252/emmm.201505894
 PMID:34161705 (SCAR31)
 著者        Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW
 タイトル      Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
 雑誌        N Engl J Med 384:2406-2417 (2021)
 DOI:10.1056/NEJMoa1915722
 PMID:17948061 (SCAN1)
 著者        Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
 タイトル      Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
 雑誌        EMBO J 26:4732-43 (2007)
 DOI:10.1038/sj.emboj.7601885
 PMID:29718187 (SCAN3)
 著者        Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
 タイトル      Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
 雑誌        Brain 141:1622-1636 (2018)
 DOI:10.1093/brain/awy104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01891"">H01891</a>","常染色体劣性遺伝性脊髄小脳失調症
 下位グループ    常染色体劣性遺伝性脊髄小脳失調症および軸索性ニューロパチー (SCAN)","Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and often the sensory nerves. They may present as a pure cerebellar syndrome or are associated with neurological symptoms such as peripheral neuropathy, dystonia, chorea, cognitive impairment, optic atrophy, seizures or extra neurological symptoms such as cardiomyopathy and diabetes mellitus in Friedreich ataxia. The main clinical features are staggering gait with frequent falls, upper limb dysmetria, impairment of speech, dysphagia, and abnormalities of eye movement.",,"(SCAR1/SCAN2) SETX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23064"">23064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10706"">K10706</a>]
 (SCAR2) PMPCA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23203"">23203</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01412"">K01412</a>]
 (SCAR4) VPS13D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55187"">55187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19527"">K19527</a>]
 (SCAR7) TPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1200"">1200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01279"">K01279</a>]
 (SCAR8) SYNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23345"">23345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19326"">K19326</a>]
 (SCAR9) COQ8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56997"">56997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08869"">K08869</a>]
 (SCAR10) ANO10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55129"">55129</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19327"">K19327</a>]
 (SCAR11) SYT14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:255928"">255928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19328"">K19328</a>]
 (SCAR12) WWOX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51741"">51741</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19329"">K19329</a>]
 (SCAR13) GRM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2911"">2911</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04603"">K04603</a>]
 (SCAR14) SPTBN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6712"">6712</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23932"">K23932</a>]
 (SCAR15) RUBCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9711"">9711</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19330"">K19330</a>]
 (SCAR16) STUB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10273"">10273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09561"">K09561</a>]
 (SCAR17) CWF19L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55280"">55280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24939"">K24939</a>]
 (SCAR18) GRID2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2895"">2895</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05207"">K05207</a>]
 (SCAR19) SLC9A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6548"">6548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05742"">K05742</a>]
 (SCAR20) SNX14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57231"">57231</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17926"">K17926</a>]
 (SCAR21) SCYL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57410"">57410</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08876"">K08876</a>]
 (SCAR22) VWA3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200403"">200403</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24509"">K24509</a>]
 (SCAR23) TDP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51567"">51567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19619"">K19619</a>]
 (SCAR24) UBA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79876"">79876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12164"">K12164</a>]
 (SCAR25) ATG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9474"">9474</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08339"">K08339</a>]
 (SCAR26) XRCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7515"">7515</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10803"">K10803</a>]
 (SCAR27) GDAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54834"">54834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24997"">K24997</a>]
 (SCAR28) THG1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54974"">54974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10761"">K10761</a>]
 (SCAR29) VPS41 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27072"">27072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20184"">K20184</a>]
 (SCAR30) PITRM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10531"">10531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06972"">K06972</a>]
 (SCAR31) ATG7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10533"">10533</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08337"">K08337</a>]
 (SCAN1) TDP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55775"">55775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10862"">K10862</a>]
 (SCAN3) COA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65260"">65260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18180"">K18180</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00063"">H00063</a> Spinocerebellar ataxia, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00067"">H00067</a> Friedreich ataxia, and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00848"">H00848</a> Ataxia with ocular apraxia.
 SCAR19 is known as Lichtenstein-Knorr syndrome, and associates sensorineural hearing loss.","ICD-11: 8A03.16
 ICD-10: G31.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020754"">D020754</a>
 OMIM: <a href=""https://www.omim.org/entry/606002"">606002</a> <a href=""https://www.omim.org/entry/213200"">213200</a> <a href=""https://www.omim.org/entry/607317"">607317</a> <a href=""https://www.omim.org/entry/609270"">609270</a> <a href=""https://www.omim.org/entry/610743"">610743</a> <a href=""https://www.omim.org/entry/612016"">612016</a> <a href=""https://www.omim.org/entry/613728"">613728</a> <a href=""https://www.omim.org/entry/614229"">614229</a> <a href=""https://www.omim.org/entry/614322"">614322</a> <a href=""https://www.omim.org/entry/614831"">614831</a> <a href=""https://www.omim.org/entry/615386"">615386</a> <a href=""https://www.omim.org/entry/615705"">615705</a> <a href=""https://www.omim.org/entry/615768"">615768</a> <a href=""https://www.omim.org/entry/616127"">616127</a> <a href=""https://www.omim.org/entry/616204"">616204</a> <a href=""https://www.omim.org/entry/616291"">616291</a> <a href=""https://www.omim.org/entry/616354"">616354</a> <a href=""https://www.omim.org/entry/616719"">616719</a> <a href=""https://www.omim.org/entry/616948"">616948</a> <a href=""https://www.omim.org/entry/616949"">616949</a> <a href=""https://www.omim.org/entry/617133"">617133</a> <a href=""https://www.omim.org/entry/617584"">617584</a> <a href=""https://www.omim.org/entry/617633"">617633</a> <a href=""https://www.omim.org/entry/618369"">618369</a> <a href=""https://www.omim.org/entry/618800"">618800</a> <a href=""https://www.omim.org/entry/619389"">619389</a> <a href=""https://www.omim.org/entry/619405"">619405</a> <a href=""https://www.omim.org/entry/619422"">619422</a> <a href=""https://www.omim.org/entry/607250"">607250</a> <a href=""https://www.omim.org/entry/618387"">618387</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19440741"">19440741</a>
 著者        Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
 タイトル      Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
 雑誌        Neurogenetics 11:1-12 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10048-009-0196-y"">10.1007/s10048-009-0196-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14770181"">14770181</a> (SCAR1/SCAN2)
 著者        Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M
 タイトル      Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
 雑誌        Nat Genet 36:225-7 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1303"">10.1038/ng1303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26657514"">26657514</a> (SCAR2)
 著者        Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tetreault M
 タイトル      Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
 雑誌        Brain 139:e19 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/awv362"">10.1093/brain/awv362</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29604224"">29604224</a> (SCAR4)
 著者        Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Bruggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Munchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M
 タイトル      Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
 雑誌        Ann Neurol 83:1075-1088 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25220"">10.1002/ana.25220</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23418007"">23418007</a> (SCAR7)
 著者        Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
 タイトル      Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
 雑誌        Hum Mutat 34:706-13 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22292"">10.1002/humu.22292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17159980"">17159980</a> (SCAR8)
 著者        Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA
 タイトル      Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
 雑誌        Nat Genet 39:80-5 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng1927"">10.1038/ng1927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18319074"">18319074</a> (SCAR9)
 著者        Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M
 タイトル      ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
 雑誌        Am J Hum Genet 82:661-72 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.12.024"">10.1016/j.ajhg.2007.12.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21092923"">21092923</a> (SCAR10)
 著者        Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N
 タイトル      Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
 雑誌        Am J Hum Genet 87:813-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.015"">10.1016/j.ajhg.2010.10.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21835308"">21835308</a> (SCAR11)
 著者        Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
 タイトル      Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
 雑誌        Am J Hum Genet 89:320-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.012"">10.1016/j.ajhg.2011.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24369382"">24369382</a> (SCAR12)
 著者        Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M
 タイトル      The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
 雑誌        Brain 137:411-9 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt338"">10.1093/brain/awt338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22901947"">22901947</a> (SCAR13)
 著者        Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
 タイトル      Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
 雑誌        Am J Hum Genet 91:553-64 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.019"">10.1016/j.ajhg.2012.07.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23236289"">23236289</a> (SCAR14)
 著者        Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Nemeth AH
 タイトル      Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development.
 雑誌        PLoS Genet 8:e1003074 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1003074"">10.1371/journal.pgen.1003074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20826435"">20826435</a> (SCAR15)
 著者        Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M
 タイトル      Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
 雑誌        Brain 133:2439-47 (2010)
 DOI:<a href=""https://doi.org/10.1093/brain/awq181"">10.1093/brain/awq181</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24312598"">24312598</a> (SCAR16)
 著者        Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B
 タイトル      Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
 雑誌        PLoS One 8:e81884 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0081884"">10.1371/journal.pone.0081884</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27016154"">27016154</a> (SCAR17)
 著者        Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsasser M, Pinkert S, Schlesner M, Bartram CR, Moog U
 タイトル      Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
 雑誌        Am J Med Genet A 170:1502-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37632"">10.1002/ajmg.a.37632</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24078737"">24078737</a> (SCAR18)
 著者        Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
 タイトル      Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
 雑誌        Neurology 81:1378-86 (2013)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3182a841a3"">10.1212/WNL.0b013e3182a841a3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25205112"">25205112</a> (SCAR19)
 著者        Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M
 タイトル      Mutation of SLC9A1, encoding the major Na(+)/H(+) exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
 雑誌        Hum Mol Genet 24:463-70 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu461"">10.1093/hmg/ddu461</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25848753"">25848753</a> (SCAR20)
 著者        Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG
 タイトル      Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
 雑誌        Nat Genet 47:528-34 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3256"">10.1038/ng.3256</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17571074"">17571074</a> (SCAR21)
 著者        Schmidt WM, Kraus C, Hoger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE
 タイトル      Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
 雑誌        EMBO Rep 8:691-7 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.embor.7401001"">10.1038/sj.embor.7401001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26157035"">26157035</a> (SCAR22)
 著者        Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R
 タイトル      A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
 雑誌        J Neurol Neurosurg Psychiatry 87:656-62 (2016)
 DOI:<a href=""https://doi.org/10.1136/jnnp-2014-309828"">10.1136/jnnp-2014-309828</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24658003"">24658003</a> (SCAR23)
 著者        Gomez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortes-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW
 タイトル      TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
 雑誌        Nat Genet 46:516-21 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2929"">10.1038/ng.2929</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26872069"">26872069</a> (SCAR24)
 著者        Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B
 タイトル      UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
 雑誌        PLoS One 11:e0149039 (2016)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0149039"">10.1371/journal.pone.0149039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28002403"">28002403</a> (SCAR26)
 著者        Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW
 タイトル      XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
 雑誌        Nature 541:87-91 (2017)
 DOI:<a href=""https://doi.org/10.1038/nature20790"">10.1038/nature20790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30084953"">30084953</a> (SCAR27)
 著者        Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schule R, Zuchner S, De Jonghe P, Schenck A, van de Warrenburg BP
 タイトル      GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
 雑誌        Brain 141:2592-2604 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy198"">10.1093/brain/awy198</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27307223"">27307223</a> (SCAR28)
 著者        Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbe K, Shaag A, Jackman JE, Elpeleg O
 タイトル      A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
 雑誌        Neurogenetics 17:219-225 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10048-016-0487-z"">10.1007/s10048-016-0487-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33764426"">33764426</a> (SCAR29)
 著者        Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kuhn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N
 タイトル      Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
 雑誌        Brain 144:769-780 (2021)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa459"">10.1093/brain/awaa459</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26697887"">26697887</a> (SCAR30)
 著者        Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA
 タイトル      Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration.
 雑誌        EMBO Mol Med 8:176-90 (2016)
 DOI:<a href=""https://doi.org/10.15252/emmm.201505894"">10.15252/emmm.201505894</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34161705"">34161705</a> (SCAR31)
 著者        Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW
 タイトル      Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
 雑誌        N Engl J Med 384:2406-2417 (2021)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1915722"">10.1056/NEJMoa1915722</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17948061"">17948061</a> (SCAN1)
 著者        Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
 タイトル      Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
 雑誌        EMBO J 26:4732-43 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.emboj.7601885"">10.1038/sj.emboj.7601885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29718187"">29718187</a> (SCAN3)
 著者        Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
 タイトル      Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
 雑誌        Brain 141:1622-1636 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy104"">10.1093/brain/awy104</a>"
H01892,"末梢性T細胞リンパ腫
 下位グループ    未分化大細胞リンパ腫 [DS:H01601]
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Peripheral T cell lymphomas (PTCLs) are a group of rare lymphomas originating from mature (i.e., post-thymic or ""peripheral"") T lymphocytes and NK cells. With regard to the current WHO classification, leukemic, cutaneous, nodal, and extranodal PTCL are distinguished. The most common subtypes worldwide are the nodal T cell lymphomas. In the nodal T cell lymphomas, the major subtypes are PTCL, not otherwise specified (PTCL-NOS), angioimmunoblastic T cell lymphoma (AITL), anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) and ALK-negative ALCL. Novel approaches are gradually clarifying the molecular pathogenesis of PTCLs. ALK gene translocation and dual specificity phosphatase 22 (DUSP22) gene translocation are seen in ALK-positive ALCL and ALK-negative ALCL, respectively. Recently, gene mutations in epigenetic regulators, including Ten-Eleven Translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), and isocitrate dehydrogenase 1 /2 (IDH1/2), are discovered in hematologic malignancies. The mutation frequencies were especially high in AITL and PTCL-NOS.",がん,,"NPM-ALK (translocation) [HSA:238] [KO:K05119]
 DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
 TET2 (mutation) [HSA:54790] [KO:K24309]
 DNMT3A (mutation) [HSA:1788] [KO:K17398]
 IDH1 (mutation) [HSA:3417] [KO:K00031]
 IDH2 (mutation) [HSA:3418] [KO:K00031]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
 イホスファミド [DR:D00343]
 ブスルファン [DR:D00248]
 メルファラン [DR:D00369]
 ニムスチン塩酸塩 [DR:D01059]
 ラニムスチン [DR:D01760]
 シタラビン [DR:D00168]
 ゲムシタビン塩酸塩 [DR:D01155]
 プララトレキサート [DR:D05589]
 フルダラビンリン酸エステル [DR:D01907]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ドキソルビシン塩酸塩 [DR:D01275]
 エピルビシン塩酸塩 [DR:D02214]
 アクラルビシン塩酸塩 [DR:D01911]
 ピラルビシン塩酸塩 [DR:D08386]
 ビンブラスチン硫酸塩 [DR:D01068]
 ビンデシン硫酸塩 [DR:D01769]
 エトポシド [DR:D00125]
 ミトキサントロン塩酸塩 [DR:D02166]
 ブレンツキシマブベドチン [DR:D09587] (CD30陽性)
 モガムリズマブ [DR:D09761] (CCR4陽性)
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ロミデプシン [DR:D06637]
 L-アスパラギナーゼ [DR:D02997]
 デニロイキンジフチトクス [DR:D03682]
 ソブゾキサン [DR:D01404]
 フォロデシン塩酸塩 [DR:D04245]
 ダリナパルシン [DR:D08898]
 ツシジノスタット [DR:D10993]","9702/3 Mature T-cell lymphoma, NOS
 9705/3 Angioimmunoblastic T-cell lymphoma
 9714/3 Anaplastic large cell lymphoma, T cell and Null cell type","ICD-11: 2A90
 ICD-10: C84.4 C84.6 C84.7 C86.5
 MeSH: D016411","PMID:28303495
 著者        Sandell RF, Boddicker RL, Feldman AL
 タイトル      Genetic Landscape and Classification of Peripheral T Cell Lymphomas.
 雑誌        Curr Oncol Rep 19:28 (2017)
 DOI:10.1007/s11912-017-0582-9
 PMID:26431836
 著者        Sakata-Yanagimoto M, Chiba S
 タイトル      Molecular Pathogenesis of Peripheral T Cell Lymphoma.
 雑誌        Curr Hematol Malig Rep 10:429-37 (2015)
 DOI:10.1007/s11899-015-0289-7
 PMID:26082661
 著者        Reimer P
 タイトル      New developments in the treatment of peripheral T-cell lymphoma - role of Belinostat.
 雑誌        Cancer Manag Res 7:145-51 (2015)
 DOI:10.2147/CMAR.S85351
 PMID:25628103
 著者        Sakata-Yanagimoto M
 タイトル      Multistep tumorigenesis in peripheral T cell lymphoma.
 雑誌        Int J Hematol 102:523-7 (2015)
 DOI:10.1007/s12185-015-1738-8
 PMID:28622960 (drug)
 著者        Feldman T, Farber CM, Choi K, Faria C, Goy A, Connors J, Paramanathan D, Kaur S, Schultz E, McGuire M, Goldberg SL
 タイトル      Treatment of Peripheral T-Cell Lymphoma in Community Settings.
 雑誌        Clin Lymphoma Myeloma Leuk 17:354-361 (2017)
 DOI:10.1016/j.clml.2017.05.001
 PMID:27071634 (drug)
 著者        Zhang Y, Xu W, Liu H, Li J
 タイトル      Therapeutic options in peripheral T cell lymphoma.
 雑誌        J Hematol Oncol 9:37 (2016)
 DOI:10.1186/s13045-016-0267-0
 PMID:28115372 (drug)
 著者        Broccoli A, Zinzani PL
 タイトル      Peripheral T-cell lymphoma, not otherwise specified.
 雑誌        Blood 129:1103-1112 (2017)
 DOI:10.1182/blood-2016-08-692566","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01892"">H01892</a>","末梢性T細胞リンパ腫
 下位グループ    未分化大細胞リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01601"">H01601</a>]
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Peripheral T cell lymphomas (PTCLs) are a group of rare lymphomas originating from mature (i.e., post-thymic or ""peripheral"") T lymphocytes and NK cells. With regard to the current WHO classification, leukemic, cutaneous, nodal, and extranodal PTCL are distinguished. The most common subtypes worldwide are the nodal T cell lymphomas. In the nodal T cell lymphomas, the major subtypes are PTCL, not otherwise specified (PTCL-NOS), angioimmunoblastic T cell lymphoma (AITL), anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) and ALK-negative ALCL. Novel approaches are gradually clarifying the molecular pathogenesis of PTCLs. ALK gene translocation and dual specificity phosphatase 22 (DUSP22) gene translocation are seen in ALK-positive ALCL and ALK-negative ALCL, respectively. Recently, gene mutations in epigenetic regulators, including Ten-Eleven Translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), and isocitrate dehydrogenase 1 /2 (IDH1/2), are discovered in hematologic malignancies. The mutation frequencies were especially high in AITL and PTCL-NOS.",,"NPM-ALK (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:238"">238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05119"">K05119</a>]
 DUSP22-IRF4 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56940"">56940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14165"">K14165</a>]
 TET2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54790"">54790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24309"">K24309</a>]
 DNMT3A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]
 IDH1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3417"">3417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 IDH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3418"">3418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]",,,,"ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00751"">D00751</a>]
 イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ブスルファン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00248"">D00248</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ニムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01059"">D01059</a>]
 ラニムスチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01760"">D01760</a>]
 シタラビン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00168"">D00168</a>]
 ゲムシタビン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01155"">D01155</a>]
 プララトレキサート [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05589"">D05589</a>]
 フルダラビンリン酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01907"">D01907</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 エピルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02214"">D02214</a>]
 アクラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01911"">D01911</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 ビンブラスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01068"">D01068</a>]
 ビンデシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01769"">D01769</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 ミトキサントロン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02166"">D02166</a>]
 ブレンツキシマブベドチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09587"">D09587</a>] (CD30陽性)
 モガムリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09761"">D09761</a>] (CCR4陽性)
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ロミデプシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06637"">D06637</a>]
 L-アスパラギナーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02997"">D02997</a>]
 デニロイキンジフチトクス [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03682"">D03682</a>]
 ソブゾキサン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01404"">D01404</a>]
 フォロデシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04245"">D04245</a>]
 ダリナパルシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08898"">D08898</a>]
 ツシジノスタット [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10993"">D10993</a>]","9702/3 Mature T-cell lymphoma, NOS
 9705/3 Angioimmunoblastic T-cell lymphoma
 9714/3 Anaplastic large cell lymphoma, T cell and Null cell type","ICD-11: 2A90
 ICD-10: C84.4 C84.6 C84.7 C86.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016411"">D016411</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28303495"">28303495</a>
 著者        Sandell RF, Boddicker RL, Feldman AL
 タイトル      Genetic Landscape and Classification of Peripheral T Cell Lymphomas.
 雑誌        Curr Oncol Rep 19:28 (2017)
 DOI:<a href=""https://doi.org/10.1007/s11912-017-0582-9"">10.1007/s11912-017-0582-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26431836"">26431836</a>
 著者        Sakata-Yanagimoto M, Chiba S
 タイトル      Molecular Pathogenesis of Peripheral T Cell Lymphoma.
 雑誌        Curr Hematol Malig Rep 10:429-37 (2015)
 DOI:<a href=""https://doi.org/10.1007/s11899-015-0289-7"">10.1007/s11899-015-0289-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26082661"">26082661</a>
 著者        Reimer P
 タイトル      New developments in the treatment of peripheral T-cell lymphoma - role of Belinostat.
 雑誌        Cancer Manag Res 7:145-51 (2015)
 DOI:<a href=""https://doi.org/10.2147/CMAR.S85351"">10.2147/CMAR.S85351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25628103"">25628103</a>
 著者        Sakata-Yanagimoto M
 タイトル      Multistep tumorigenesis in peripheral T cell lymphoma.
 雑誌        Int J Hematol 102:523-7 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12185-015-1738-8"">10.1007/s12185-015-1738-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28622960"">28622960</a> (drug)
 著者        Feldman T, Farber CM, Choi K, Faria C, Goy A, Connors J, Paramanathan D, Kaur S, Schultz E, McGuire M, Goldberg SL
 タイトル      Treatment of Peripheral T-Cell Lymphoma in Community Settings.
 雑誌        Clin Lymphoma Myeloma Leuk 17:354-361 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.clml.2017.05.001"">10.1016/j.clml.2017.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27071634"">27071634</a> (drug)
 著者        Zhang Y, Xu W, Liu H, Li J
 タイトル      Therapeutic options in peripheral T cell lymphoma.
 雑誌        J Hematol Oncol 9:37 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13045-016-0267-0"">10.1186/s13045-016-0267-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28115372"">28115372</a> (drug)
 著者        Broccoli A, Zinzani PL
 タイトル      Peripheral T-cell lymphoma, not otherwise specified.
 雑誌        Blood 129:1103-1112 (2017)
 DOI:<a href=""https://doi.org/10.1182/blood-2016-08-692566"">10.1182/blood-2016-08-692566</a>"
H01893,側方髄膜瘤症候群,,,"Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.",先天奇形,,NOTCH3 [HSA:4854] [KO:K20995],,,,,,"ICD-11: LA07.Y
 ICD-10: Q87.5
 MeSH: C537878
 OMIM: 130720","PMID:830893
 著者        Lehman RA, Stears JC, Wesenberg RL, Nusbaum ED
 タイトル      Familial osteosclerosis with abnormalities of the nervous system and meninges.
 雑誌        J Pediatr 90:49-54 (1977)
 DOI:10.1016/S0022-3476(77)80763-4
 PMID:24311540
 著者        Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P
 タイトル      Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
 雑誌        Am J Med Genet A 164A:528-34 (2014)
 DOI:10.1002/ajmg.a.36301
 PMID:28512196
 著者        Masek J, Andersson ER
 タイトル      The developmental biology of genetic Notch disorders.
 雑誌        Development 144:1743-1763 (2017)
 DOI:10.1242/dev.148007
 PMID:25394726
 著者        Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K
 タイトル      Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
 雑誌        Am J Med Genet A 167A:271-81 (2015)
 DOI:10.1002/ajmg.a.36863","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01893"">H01893</a>",側方髄膜瘤症候群,"Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.",,"NOTCH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4854"">4854</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20995"">K20995</a>]",,,,,,"ICD-11: LA07.Y
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537878"">C537878</a>
 OMIM: <a href=""https://www.omim.org/entry/130720"">130720</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/830893"">830893</a>
 著者        Lehman RA, Stears JC, Wesenberg RL, Nusbaum ED
 タイトル      Familial osteosclerosis with abnormalities of the nervous system and meninges.
 雑誌        J Pediatr 90:49-54 (1977)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(77)80763-4"">10.1016/S0022-3476(77)80763-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24311540"">24311540</a>
 著者        Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P
 タイトル      Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
 雑誌        Am J Med Genet A 164A:528-34 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36301"">10.1002/ajmg.a.36301</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28512196"">28512196</a>
 著者        Masek J, Andersson ER
 タイトル      The developmental biology of genetic Notch disorders.
 雑誌        Development 144:1743-1763 (2017)
 DOI:<a href=""https://doi.org/10.1242/dev.148007"">10.1242/dev.148007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25394726"">25394726</a>
 著者        Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K
 タイトル      Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
 雑誌        Am J Med Genet A 167A:271-81 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36863"">10.1002/ajmg.a.36863</a>"
H01894,"多発性ミトコンドリア機能障害症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis machinery are already implicated in causing five types of MMDS. All MMDS share variable neurodevelopmental delay, regression, seizures, lactic acidosis and leukodystrophy resulting in early death of affected individuals.",先天代謝異常症; ミトコンドリア病,,"(MMDS1) NFU1 [HSA:27247] [KO:K22074]
 (MMDS2) BOLA3 [HSA:388962] [KO:K22075]
 (MMDS3) IBA57 [HSA:200205] [KO:K22073]
 (MMDS4) ISCA2 [HSA:122961] [KO:K22072]
 (MMDS5) ISCA1 [HSA:81689] [KO:K22063]
 (MMDS6) PMPCB [HSA:9512] [KO:K17732]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: C565304
 OMIM: 605711 614299 615330 616370 617613 617954","PMID:25477904
 著者        Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I
 タイトル      Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
 雑誌        Front Genet 5:412 (2014)
 DOI:10.3389/fgene.2014.00412
 PMID:21944046
 著者        Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH
 タイトル      Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
 雑誌        Am J Hum Genet 89:486-95 (2011)
 DOI:10.1016/j.ajhg.2011.08.011
 PMID:23462291
 著者        Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R
 タイトル      Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
 雑誌        Hum Mol Genet 22:2590-602 (2013)
 DOI:10.1093/hmg/ddt107
 PMID:25539947
 著者        Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N
 タイトル      ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
 雑誌        J Med Genet 52:186-94 (2015)
 DOI:10.1136/jmedgenet-2014-102592
 PMID:28356563
 著者        Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM
 タイトル      Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
 雑誌        J Hum Genet 62:723-727 (2017)
 DOI:10.1038/jhg.2017.35","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01894"">H01894</a>","多発性ミトコンドリア機能障害症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis machinery are already implicated in causing five types of MMDS. All MMDS share variable neurodevelopmental delay, regression, seizures, lactic acidosis and leukodystrophy resulting in early death of affected individuals.",,"(MMDS1) NFU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27247"">27247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22074"">K22074</a>]
 (MMDS2) BOLA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:388962"">388962</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22075"">K22075</a>]
 (MMDS3) IBA57 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:200205"">200205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22073"">K22073</a>]
 (MMDS4) ISCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:122961"">122961</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22072"">K22072</a>]
 (MMDS5) ISCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81689"">81689</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22063"">K22063</a>]
 (MMDS6) PMPCB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9512"">9512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17732"">K17732</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565304"">C565304</a>
 OMIM: <a href=""https://www.omim.org/entry/605711"">605711</a> <a href=""https://www.omim.org/entry/614299"">614299</a> <a href=""https://www.omim.org/entry/615330"">615330</a> <a href=""https://www.omim.org/entry/616370"">616370</a> <a href=""https://www.omim.org/entry/617613"">617613</a> <a href=""https://www.omim.org/entry/617954"">617954</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25477904"">25477904</a>
 著者        Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I
 タイトル      Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
 雑誌        Front Genet 5:412 (2014)
 DOI:<a href=""https://doi.org/10.3389/fgene.2014.00412"">10.3389/fgene.2014.00412</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21944046"">21944046</a>
 著者        Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH
 タイトル      Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
 雑誌        Am J Hum Genet 89:486-95 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.08.011"">10.1016/j.ajhg.2011.08.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23462291"">23462291</a>
 著者        Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R
 タイトル      Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
 雑誌        Hum Mol Genet 22:2590-602 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt107"">10.1093/hmg/ddt107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25539947"">25539947</a>
 著者        Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N
 タイトル      ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
 雑誌        J Med Genet 52:186-94 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102592"">10.1136/jmedgenet-2014-102592</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28356563"">28356563</a>
 著者        Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM
 タイトル      Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
 雑誌        J Hum Genet 62:723-727 (2017)
 DOI:<a href=""https://doi.org/10.1038/jhg.2017.35"">10.1038/jhg.2017.35</a>"
H01895,注意欠陥多動障害 (ADHD),,,"Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized by symptoms of inattention, impulsivity, and hyperactivity. Many children with ADHD go on to have problems related to education, social functioning, and/or other mental illness as adolescents and young adults. Although heritability estimates are consistently high, ADHD is a genetically complex disorder characterized by multifactorial inheritance involving numerous genes of moderate effect. Reports implicate variants of genes important for the synthesis, uptake, transport and receptor binding of dopamine in the etiology of ADHD. And interaction between the dopamine and serotonin systems has been implicated in both the pathophysiology of ADHD and the mechanism of action of widely used stimulant compounds.",精神及び行動の障害,,"DRD4 [HSA:1815] [KO:K04147]
 DRD5 [HSA:1816] [KO:K05840]
 TPH2 [HSA:121278] [KO:K00502]",,,,"グアンファシン塩酸塩 [DR:D00606]
 メチルフェニデート塩酸塩 [DR:D01296]
 アトモキセチン塩酸塩 [DR:D02574]
 リスデキサンフェタミンメシル酸塩 [DR:D04747]",,"ICD-11: 6A05
 ICD-10: F90.0
 MeSH: D001289
 OMIM: 143465 613003","PMID:24214656
 著者        Matthews M, Nigg JT, Fair DA
 タイトル      Attention deficit hyperactivity disorder.
 雑誌        Curr Top Behav Neurosci 16:235-66 (2014)
 DOI:10.1007/7854_2013_249
 PMID:14699430
 著者        Kustanovich V, Ishii J, Crawford L, Yang M, McGough JJ, McCracken JT, Smalley SL, Nelson SF
 タイトル      Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5.
 雑誌        Mol Psychiatry 9:711-7 (2004)
 DOI:10.1038/sj.mp.4001466
 PMID:16116490
 著者        Walitza S, Renner TJ, Dempfle A, Konrad K, Wewetzer Ch, Halbach A, Herpertz-Dahlmann B, Remschmidt H, Smidt J, Linder M, Flierl L, Knolker U, Friedel S, Schafer H, Gross C, Hebebrand J, Warnke A, Lesch KP
 タイトル      Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in attention-deficit/hyperactivity disorder.
 雑誌        Mol Psychiatry 10:1126-32 (2005)
 DOI:10.1038/sj.mp.4001734
 PMID:24627974
 著者        Roskell NS, Setyawan J, Zimovetz EA, Hodgkins P
 タイトル      Systematic evidence synthesis of treatments for ADHD in children and adolescents: indirect treatment comparisons of lisdexamfetamine with methylphenidate and atomoxetine.
 雑誌        Curr Med Res Opin 30:1673-85 (2014)
 DOI:10.1185/03007995.2014.904772
 PMID:26170637 (drug)
 著者        Bello NT
 タイトル      Clinical utility of guanfacine extended release in the treatment of ADHD in children and adolescents.
 雑誌        Patient Prefer Adherence 9:877-85 (2015)
 DOI:10.2147/PPA.S73167","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01895"">H01895</a>",注意欠陥多動障害 (ADHD),"Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized by symptoms of inattention, impulsivity, and hyperactivity. Many children with ADHD go on to have problems related to education, social functioning, and/or other mental illness as adolescents and young adults. Although heritability estimates are consistently high, ADHD is a genetically complex disorder characterized by multifactorial inheritance involving numerous genes of moderate effect. Reports implicate variants of genes important for the synthesis, uptake, transport and receptor binding of dopamine in the etiology of ADHD. And interaction between the dopamine and serotonin systems has been implicated in both the pathophysiology of ADHD and the mechanism of action of widely used stimulant compounds.",,"DRD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1815"">1815</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04147"">K04147</a>]
 DRD5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1816"">1816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05840"">K05840</a>]
 TPH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:121278"">121278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00502"">K00502</a>]",,,,"グアンファシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00606"">D00606</a>]
 メチルフェニデート塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01296"">D01296</a>]
 アトモキセチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02574"">D02574</a>]
 リスデキサンフェタミンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D04747"">D04747</a>]",,"ICD-11: 6A05
 ICD-10: F90.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001289"">D001289</a>
 OMIM: <a href=""https://www.omim.org/entry/143465"">143465</a> <a href=""https://www.omim.org/entry/613003"">613003</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24214656"">24214656</a>
 著者        Matthews M, Nigg JT, Fair DA
 タイトル      Attention deficit hyperactivity disorder.
 雑誌        Curr Top Behav Neurosci 16:235-66 (2014)
 DOI:<a href=""https://doi.org/10.1007/7854_2013_249"">10.1007/7854_2013_249</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14699430"">14699430</a>
 著者        Kustanovich V, Ishii J, Crawford L, Yang M, McGough JJ, McCracken JT, Smalley SL, Nelson SF
 タイトル      Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5.
 雑誌        Mol Psychiatry 9:711-7 (2004)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001466"">10.1038/sj.mp.4001466</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16116490"">16116490</a>
 著者        Walitza S, Renner TJ, Dempfle A, Konrad K, Wewetzer Ch, Halbach A, Herpertz-Dahlmann B, Remschmidt H, Smidt J, Linder M, Flierl L, Knolker U, Friedel S, Schafer H, Gross C, Hebebrand J, Warnke A, Lesch KP
 タイトル      Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in attention-deficit/hyperactivity disorder.
 雑誌        Mol Psychiatry 10:1126-32 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001734"">10.1038/sj.mp.4001734</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24627974"">24627974</a>
 著者        Roskell NS, Setyawan J, Zimovetz EA, Hodgkins P
 タイトル      Systematic evidence synthesis of treatments for ADHD in children and adolescents: indirect treatment comparisons of lisdexamfetamine with methylphenidate and atomoxetine.
 雑誌        Curr Med Res Opin 30:1673-85 (2014)
 DOI:<a href=""https://doi.org/10.1185/03007995.2014.904772"">10.1185/03007995.2014.904772</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26170637"">26170637</a> (drug)
 著者        Bello NT
 タイトル      Clinical utility of guanfacine extended release in the treatment of ADHD in children and adolescents.
 雑誌        Patient Prefer Adherence 9:877-85 (2015)
 DOI:<a href=""https://doi.org/10.2147/PPA.S73167"">10.2147/PPA.S73167</a>"
H01896,先天性皮膚欠損,,,"Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous group of syndromes such as Adams-Oliver syndrome and Johanson-Blizzard syndrome. A mutation in the ribosomal GTPase BMS1 is identified in ACC. BMS1 has a role in processing of pre-rRNAs of the small ribosomal subunit. And mutations that affect ribosomal function can result in a cell cycle defect.",先天奇形,,BMS1 [HSA:9790] [KO:K14569],,,,,See also H00571 Johanson-Blizzard syndrome and H01413 Adams-Oliver syndrome (AOS).,"ICD-11: LC60
 ICD-10: Q84.8
 MeSH: D004476
 OMIM: 107600","PMID:25672305
 著者        Brzezinski P, Pinteala T, Chiriac AE, Foia L, Chiriac A
 タイトル      Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature.
 雑誌        An Bras Dermatol 90:100-3 (2015)
 DOI:10.1590/abd1806-4841.20153078
 PMID:23785305
 著者        Marneros AG
 タイトル      BMS1 is mutated in aplasia cutis congenita.
 雑誌        PLoS Genet 9:e1003573 (2013)
 DOI:10.1371/journal.pgen.1003573","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01896"">H01896</a>",先天性皮膚欠損,"Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous group of syndromes such as Adams-Oliver syndrome and Johanson-Blizzard syndrome. A mutation in the ribosomal GTPase BMS1 is identified in ACC. BMS1 has a role in processing of pre-rRNAs of the small ribosomal subunit. And mutations that affect ribosomal function can result in a cell cycle defect.",,"BMS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9790"">9790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14569"">K14569</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00571"">H00571</a> Johanson-Blizzard syndrome and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01413"">H01413</a> Adams-Oliver syndrome (AOS).","ICD-11: LC60
 ICD-10: Q84.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004476"">D004476</a>
 OMIM: <a href=""https://www.omim.org/entry/107600"">107600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25672305"">25672305</a>
 著者        Brzezinski P, Pinteala T, Chiriac AE, Foia L, Chiriac A
 タイトル      Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature.
 雑誌        An Bras Dermatol 90:100-3 (2015)
 DOI:<a href=""https://doi.org/10.1590/abd1806-4841.20153078"">10.1590/abd1806-4841.20153078</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23785305"">23785305</a>
 著者        Marneros AG
 タイトル      BMS1 is mutated in aplasia cutis congenita.
 雑誌        PLoS Genet 9:e1003573 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1003573"">10.1371/journal.pgen.1003573</a>"
H01897,卵母細胞の成熟異常,,,"The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Until now, variants in ZP1, ZP2 and ZP3 genes have been reported to be the causes for oocyte maturation defect (OOMD) and female infertility. Recently, it has been reported that mutations in TUBB8, a beta-tubulin isotype of hitherto undetermined function, interfere with human oocyte maturation. They are either inherited paternally as an autosomal dominant or arise de novo.",生殖系疾患,,"(OOMD1) ZP1 [HSA:22917] [KO:K19926]
 (OOMD2) TUBB8 [HSA:347688] [KO:K07375]
 (OOMD3) ZP3 [HSA:7784] [KO:K19928]
 (OOMD4) PATL2 [HSA:197135] [KO:K24823]
 (OOMD5) WEE2 [HSA:494551] [KO:K06632]
 (OOMD6) ZP2 [HSA:7783] [KO:K19927]
 (OOMD7) PANX1 [HSA:24145] [KO:K03443]
 (OOMD8) BTG4 [HSA:54766] [KO:K14443]
 (OOMD9) TRIP13 [HSA:9319] [KO:K22399]
 (OOMD10) REC114 [HSA:283677]
 (OOMD11) ASTL [HSA:431705] [KO:K08778]
 (OOMD12) FBXO43 [HSA:286151] [KO:K10318]",,,,,,"ICD-11: GA31.0Y
 ICD-10: N97.8
 MeSH: D007247
 OMIM: 615774 616780 617712 617743 617996 618353 618550 619009 619011 619176 619643 619697","PMID:24670168 (ZP1)
 著者        Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM
 タイトル      Mutant ZP1 in familial infertility.
 雑誌        N Engl J Med 370:1220-6 (2014)
 DOI:10.1056/NEJMoa1308851
 PMID:26789871 (TUBB8)
 著者        Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L
 タイトル      Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
 雑誌        N Engl J Med 374:223-32 (2016)
 DOI:10.1056/NEJMoa1510791
 PMID:28886344 (ZP3)
 著者        Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ
 タイトル      A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.
 雑誌        Am J Hum Genet 101:459-465 (2017)
 DOI:10.1016/j.ajhg.2017.08.001
 PMID:28965849 (PATL2)
 著者        Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L
 タイトル      Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
 雑誌        Am J Hum Genet 101:609-615 (2017)
 DOI:10.1016/j.ajhg.2017.08.018
 PMID:29606300 (WEE2)
 著者        Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L
 タイトル      Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.
 雑誌        Am J Hum Genet 102:649-657 (2018)
 DOI:10.1016/j.ajhg.2018.02.015
 PMID:29895852 (ZP2)
 著者        Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, Lu G, Du J, Lin G
 タイトル      ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.
 雑誌        Genet Med 21:431-440 (2019)
 DOI:10.1038/s41436-018-0064-y
 PMID:30918116 (PANX1)
 著者        Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L
 タイトル      A pannexin 1 channelopathy causes human oocyte death.
 雑誌        Sci Transl Med 11:eaav8731 (2019)
 DOI:10.1126/scitranslmed.aav8731
 PMID:32502391 (BTG4)
 著者        Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G, Sang Q
 タイトル      Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
 雑誌        Am J Hum Genet 107:24-33 (2020)
 DOI:10.1016/j.ajhg.2020.05.010
 PMID:32473092 (TRIP13)
 著者        Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L
 タイトル      Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
 雑誌        Am J Hum Genet 107:15-23 (2020)
 DOI:10.1016/j.ajhg.2020.05.001
 PMID:31704776 (REC114)
 著者        Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q
 タイトル      Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.
 雑誌        J Med Genet 57:187-194 (2020)
 DOI:10.1136/jmedgenet-2019-106379
 PMID:34704130 (ASTL)
 著者        Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS
 タイトル      ASTL is mutated in female infertility.
 雑誌        Hum Genet 10.1007/s00439-021-02388-8 (2021)
 DOI:10.1007/s00439-021-02388-8
 PMID:34052850 (FBXO43)
 著者        Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L, Lin J, Du J, Li Q, He L, Jin L, Sun X, Wang L, Sang Q
 タイトル      FBXO43 variants in patients with female infertility characterized by early embryonic arrest.
 雑誌        Hum Reprod 36:2392-2402 (2021)
 DOI:10.1093/humrep/deab131","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01897"">H01897</a>",卵母細胞の成熟異常,"The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Until now, variants in ZP1, ZP2 and ZP3 genes have been reported to be the causes for oocyte maturation defect (OOMD) and female infertility. Recently, it has been reported that mutations in TUBB8, a beta-tubulin isotype of hitherto undetermined function, interfere with human oocyte maturation. They are either inherited paternally as an autosomal dominant or arise de novo.",,"(OOMD1) ZP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22917"">22917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19926"">K19926</a>]
 (OOMD2) TUBB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:347688"">347688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07375"">K07375</a>]
 (OOMD3) ZP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7784"">7784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19928"">K19928</a>]
 (OOMD4) PATL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197135"">197135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24823"">K24823</a>]
 (OOMD5) WEE2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:494551"">494551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06632"">K06632</a>]
 (OOMD6) ZP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7783"">7783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19927"">K19927</a>]
 (OOMD7) PANX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:24145"">24145</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03443"">K03443</a>]
 (OOMD8) BTG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54766"">54766</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14443"">K14443</a>]
 (OOMD9) TRIP13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9319"">9319</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22399"">K22399</a>]
 (OOMD10) REC114 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283677"">283677</a>]
 (OOMD11) ASTL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:431705"">431705</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08778"">K08778</a>]
 (OOMD12) FBXO43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:286151"">286151</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10318"">K10318</a>]",,,,,,"ICD-11: GA31.0Y
 ICD-10: N97.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007247"">D007247</a>
 OMIM: <a href=""https://www.omim.org/entry/615774"">615774</a> <a href=""https://www.omim.org/entry/616780"">616780</a> <a href=""https://www.omim.org/entry/617712"">617712</a> <a href=""https://www.omim.org/entry/617743"">617743</a> <a href=""https://www.omim.org/entry/617996"">617996</a> <a href=""https://www.omim.org/entry/618353"">618353</a> <a href=""https://www.omim.org/entry/618550"">618550</a> <a href=""https://www.omim.org/entry/619009"">619009</a> <a href=""https://www.omim.org/entry/619011"">619011</a> <a href=""https://www.omim.org/entry/619176"">619176</a> <a href=""https://www.omim.org/entry/619643"">619643</a> <a href=""https://www.omim.org/entry/619697"">619697</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24670168"">24670168</a> (ZP1)
 著者        Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM
 タイトル      Mutant ZP1 in familial infertility.
 雑誌        N Engl J Med 370:1220-6 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1308851"">10.1056/NEJMoa1308851</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26789871"">26789871</a> (TUBB8)
 著者        Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L
 タイトル      Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
 雑誌        N Engl J Med 374:223-32 (2016)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1510791"">10.1056/NEJMoa1510791</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28886344"">28886344</a> (ZP3)
 著者        Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ
 タイトル      A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.
 雑誌        Am J Hum Genet 101:459-465 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.001"">10.1016/j.ajhg.2017.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28965849"">28965849</a> (PATL2)
 著者        Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L
 タイトル      Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
 雑誌        Am J Hum Genet 101:609-615 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.018"">10.1016/j.ajhg.2017.08.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29606300"">29606300</a> (WEE2)
 著者        Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L
 タイトル      Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.
 雑誌        Am J Hum Genet 102:649-657 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.02.015"">10.1016/j.ajhg.2018.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29895852"">29895852</a> (ZP2)
 著者        Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, Lu G, Du J, Lin G
 タイトル      ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.
 雑誌        Genet Med 21:431-440 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0064-y"">10.1038/s41436-018-0064-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30918116"">30918116</a> (PANX1)
 著者        Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L
 タイトル      A pannexin 1 channelopathy causes human oocyte death.
 雑誌        Sci Transl Med 11:eaav8731 (2019)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aav8731"">10.1126/scitranslmed.aav8731</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32502391"">32502391</a> (BTG4)
 著者        Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G, Sang Q
 タイトル      Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
 雑誌        Am J Hum Genet 107:24-33 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.05.010"">10.1016/j.ajhg.2020.05.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32473092"">32473092</a> (TRIP13)
 著者        Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L
 タイトル      Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
 雑誌        Am J Hum Genet 107:15-23 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.05.001"">10.1016/j.ajhg.2020.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31704776"">31704776</a> (REC114)
 著者        Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q
 タイトル      Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.
 雑誌        J Med Genet 57:187-194 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106379"">10.1136/jmedgenet-2019-106379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34704130"">34704130</a> (ASTL)
 著者        Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS
 タイトル      ASTL is mutated in female infertility.
 雑誌        Hum Genet 10.1007/s00439-021-02388-8 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-021-02388-8"">10.1007/s00439-021-02388-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34052850"">34052850</a> (FBXO43)
 著者        Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L, Lin J, Du J, Li Q, He L, Jin L, Sun X, Wang L, Sang Q
 タイトル      FBXO43 variants in patients with female infertility characterized by early embryonic arrest.
 雑誌        Hum Reprod 36:2392-2402 (2021)
 DOI:<a href=""https://doi.org/10.1093/humrep/deab131"">10.1093/humrep/deab131</a>"
H01898,"PNPLA6 関連疾患
 下位グループ    Boucher-Neuhauser 症候群 [DS:H02140]
 Oliver-McFarlane 症候群
 Laurence-Moon 症候群 [DS:H02137]
 常染色体劣性遺伝性痙性対麻痺 39",,,"PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper motor neuron disease with or without additional lower motor neuropathy), hypogonadism, and chorioretinal dystrophy. Although these clinical features appear to be frequent in PNPLA6 disease none of them is an obligate feature of the disease. The majority of the PNPLA6 mutations affect a phospholipid esterase domain in neuropathy target esterase (NTE), which has been shown to de-esterify phosphatidylcholine, a major component of biological membranes, into its constituent fatty acids and glycerophosphocholine. Other phenotypes caused by NTE dysfunction due to PNPLA6 mutations include anterior hypopituitarism, trichomegaly, alopecia, and facial dysmorphisms.",神経系疾患,,PNPLA6 [HSA:10908] [KO:K14676],,,,,,"ICD-10: Q87.8 G11.8 G11.4
 MeSH: C565850 C536554 D007849 C567433
 OMIM: 245800 215470 275400 612020","PMID:24355708
 著者        Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S
 タイトル      PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
 雑誌        Brain 137:69-77 (2014)
 DOI:10.1093/brain/awt326
 PMID:27866050
 著者        Langdahl JH, Frederiksen AL, Nguyen N, Brusgaard K, Juhl CB
 タイトル      Boucher Neuhauser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
 雑誌        Eur J Med Genet 60:105-109 (2017)
 DOI:10.1016/j.ejmg.2016.11.003
 PMID:25480986
 著者        Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
 タイトル      Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
 雑誌        J Med Genet 52:85-94 (2015)
 DOI:10.1136/jmedgenet-2014-102856","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01898"">H01898</a>","PNPLA6 関連疾患
 下位グループ    Boucher-Neuhauser 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02140"">H02140</a>]
 Oliver-McFarlane 症候群
 Laurence-Moon 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02137"">H02137</a>]
 常染色体劣性遺伝性痙性対麻痺 39","PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper motor neuron disease with or without additional lower motor neuropathy), hypogonadism, and chorioretinal dystrophy. Although these clinical features appear to be frequent in PNPLA6 disease none of them is an obligate feature of the disease. The majority of the PNPLA6 mutations affect a phospholipid esterase domain in neuropathy target esterase (NTE), which has been shown to de-esterify phosphatidylcholine, a major component of biological membranes, into its constituent fatty acids and glycerophosphocholine. Other phenotypes caused by NTE dysfunction due to PNPLA6 mutations include anterior hypopituitarism, trichomegaly, alopecia, and facial dysmorphisms.",,"PNPLA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10908"">10908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14676"">K14676</a>]",,,,,,"ICD-10: Q87.8 G11.8 G11.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565850"">C565850</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536554"">C536554</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007849"">D007849</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567433"">C567433</a>
 OMIM: <a href=""https://www.omim.org/entry/245800"">245800</a> <a href=""https://www.omim.org/entry/215470"">215470</a> <a href=""https://www.omim.org/entry/275400"">275400</a> <a href=""https://www.omim.org/entry/612020"">612020</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24355708"">24355708</a>
 著者        Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S
 タイトル      PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
 雑誌        Brain 137:69-77 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt326"">10.1093/brain/awt326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27866050"">27866050</a>
 著者        Langdahl JH, Frederiksen AL, Nguyen N, Brusgaard K, Juhl CB
 タイトル      Boucher Neuhauser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
 雑誌        Eur J Med Genet 60:105-109 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2016.11.003"">10.1016/j.ejmg.2016.11.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25480986"">25480986</a>
 著者        Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
 タイトル      Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
 雑誌        J Med Genet 52:85-94 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102856"">10.1136/jmedgenet-2014-102856</a>"
H01899,読字障害,,,"Dyslexia is defined by severe difficulties in reading acquisition, often accompanied by spelling difficulties and affects a large number of people (5-10%). It is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. However, effects of individual genetic variations on dyslexia-associated deficits are only moderate. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading-language networks.",精神及び行動の障害,,"DNAAF4 [HSA:161582] [KO:K19758]
 AAVR [HSA:9856] [KO:K24403]",,,,,,"ICD-11: MB4B.0
 ICD-10: R48.0
 MeSH: D004410
 OMIM: 127700 600202","PMID:25594880
 著者        Peterson RL, Pennington BF
 タイトル      Developmental dyslexia.
 雑誌        Annu Rev Clin Psychol 11:283-307 (2015)
 DOI:10.1146/annurev-clinpsy-032814-112842
 PMID:20862559
 著者        Svensson I, Nilsson S, Wahlstrom J, Jernas M, Carlsson LM, Hjelmquist E
 タイトル      Familial dyslexia in a large Swedish family: a whole genome linkage scan.
 雑誌        Behav Genet 41:43-9 (2011)
 DOI:10.1007/s10519-010-9395-4
 PMID:17111266
 著者        Shastry BS
 タイトル      Developmental dyslexia: an update.
 雑誌        J Hum Genet 52:104-9 (2007)
 DOI:10.1007/s10038-006-0088-z
 PMID:26283516
 著者        Mannel C, Meyer L, Wilcke A, Boltze J, Kirsten H, Friederici AD
 タイトル      Working-memory endophenotype and dyslexia-associated genetic variant predict dyslexia phenotype.
 雑誌        Cortex 71:291-305 (2015)
 DOI:10.1016/j.cortex.2015.06.029
 PMID:15717286
 著者        Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J
 タイトル      Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.
 雑誌        Am J Hum Genet 76:581-91 (2005)
 DOI:10.1086/429131","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01899"">H01899</a>",読字障害,"Dyslexia is defined by severe difficulties in reading acquisition, often accompanied by spelling difficulties and affects a large number of people (5-10%). It is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. However, effects of individual genetic variations on dyslexia-associated deficits are only moderate. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading-language networks.",,"DNAAF4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:161582"">161582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19758"">K19758</a>]
 AAVR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9856"">9856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24403"">K24403</a>]",,,,,,"ICD-11: MB4B.0
 ICD-10: R48.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004410"">D004410</a>
 OMIM: <a href=""https://www.omim.org/entry/127700"">127700</a> <a href=""https://www.omim.org/entry/600202"">600202</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25594880"">25594880</a>
 著者        Peterson RL, Pennington BF
 タイトル      Developmental dyslexia.
 雑誌        Annu Rev Clin Psychol 11:283-307 (2015)
 DOI:<a href=""https://doi.org/10.1146/annurev-clinpsy-032814-112842"">10.1146/annurev-clinpsy-032814-112842</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20862559"">20862559</a>
 著者        Svensson I, Nilsson S, Wahlstrom J, Jernas M, Carlsson LM, Hjelmquist E
 タイトル      Familial dyslexia in a large Swedish family: a whole genome linkage scan.
 雑誌        Behav Genet 41:43-9 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10519-010-9395-4"">10.1007/s10519-010-9395-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17111266"">17111266</a>
 著者        Shastry BS
 タイトル      Developmental dyslexia: an update.
 雑誌        J Hum Genet 52:104-9 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10038-006-0088-z"">10.1007/s10038-006-0088-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26283516"">26283516</a>
 著者        Mannel C, Meyer L, Wilcke A, Boltze J, Kirsten H, Friederici AD
 タイトル      Working-memory endophenotype and dyslexia-associated genetic variant predict dyslexia phenotype.
 雑誌        Cortex 71:291-305 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.cortex.2015.06.029"">10.1016/j.cortex.2015.06.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15717286"">15717286</a>
 著者        Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J
 タイトル      Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.
 雑誌        Am J Hum Genet 76:581-91 (2005)
 DOI:<a href=""https://doi.org/10.1086/429131"">10.1086/429131</a>"
H01900,ミトコンドリアおよびペルオキシソームの分裂異常による脳症,,,"Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. It has been described that patients have mutations in DNM1L gene, which has a critical role in regulating the fission of both mitochondria and peroxisomes. Recently, it has been reported that mutations in mitochondrial fission factor (MFF) also cause Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.",先天性代謝異常症,,"DNM1L [HSA:10059] [KO:K17065]
 MFF [HSA:56947] [KO:K22076]",,,,,See also H01354 Leigh syndrome.,"ICD-11: 5C53.Y
 ICD-10: G31.8
 OMIM: 614388 617086","PMID:26992161
 著者        Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A
 タイトル      Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
 雑誌        Am J Med Genet A 170:1603-7 (2016)
 DOI:10.1002/ajmg.a.37624
 PMID:26825290
 著者        Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD
 タイトル      Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
 雑誌        J Pediatr 171:313-6.e1-2 (2016)
 DOI:10.1016/j.jpeds.2015.12.060
 PMID:26783368
 著者        Koch J, Feichtinger RG, Freisinger P, Pies M, Schrodl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB
 タイトル      Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
 雑誌        J Med Genet 53:270-8 (2016)
 DOI:10.1136/jmedgenet-2015-103500","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01900"">H01900</a>",ミトコンドリアおよびペルオキシソームの分裂異常による脳症,"Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. It has been described that patients have mutations in DNM1L gene, which has a critical role in regulating the fission of both mitochondria and peroxisomes. Recently, it has been reported that mutations in mitochondrial fission factor (MFF) also cause Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.",,"DNM1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10059"">10059</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17065"">K17065</a>]
 MFF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56947"">56947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22076"">K22076</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01354"">H01354</a> Leigh syndrome.","ICD-11: 5C53.Y
 ICD-10: G31.8
 OMIM: <a href=""https://www.omim.org/entry/614388"">614388</a> <a href=""https://www.omim.org/entry/617086"">617086</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26992161"">26992161</a>
 著者        Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A
 タイトル      Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
 雑誌        Am J Med Genet A 170:1603-7 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37624"">10.1002/ajmg.a.37624</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26825290"">26825290</a>
 著者        Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD
 タイトル      Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
 雑誌        J Pediatr 171:313-6.e1-2 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jpeds.2015.12.060"">10.1016/j.jpeds.2015.12.060</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26783368"">26783368</a>
 著者        Koch J, Feichtinger RG, Freisinger P, Pies M, Schrodl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB
 タイトル      Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
 雑誌        J Med Genet 53:270-8 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103500"">10.1136/jmedgenet-2015-103500</a>"
H01901,バレット食道,,,"Barrett esophagus (BE) is the premalignant lesion of esophageal adenocarcinoma (EAC) defined as specialized intestinal metaplasia (SIM) of the tubular esophagus. According to some studies, the incidence of the esophageal adenocarcinoma in patients with BE is of about 0.5% per year. The major pathogenetic factor in the development of BE is represented by the gastroesophageal reflux disease. BE is characterized by the replacement of the normal squamous epithelium with the columnar epithelium, when the healing of the lesion occurs. Because only a minority of patients (around 10-15%) with gastroesophageal reflux disease have BE, additional factors that play important roles in determining the development of BE must concur. Another frequent association with BE, is represented by nitrate, an increased age, Caucasian race, male sex and hiatal hernia. Recently, it has been reported that mutations in MSR1, ASCC1, and CTHRC1 are associated with this disease.",消化器系疾患,,"MSR1 [HSA:4481] [KO:K06558]
 CTHRC1 [HSA:115908] [KO:K25700]
 ASCC1 [HSA:51008] [KO:K18666]",,,,,See also H01602 Gastroesophageal reflux disease (GERD) and H00017 Esophageal cancer.,"ICD-11: DA23
 ICD-10: K22.7
 MeSH: D001471
 OMIM: 614266","PMID:21461873
 著者        Gilbert EW, Luna RA, Harrison VL, Hunter JG
 タイトル      Barrett's esophagus: a review of the literature.
 雑誌        J Gastrointest Surg 15:708-18 (2011)
 DOI:10.1007/s11605-011-1485-y
 PMID:25870690
 著者        Gindea C, Birla R, Hoara P, Caragui A, Constantinoiu S
 タイトル      Barrett esophagus: history, definition and etiopathogeny.
 雑誌        J Med Life 7 Spec No. 3:23-30 (2014)
 PMID:21791690
 著者        Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C
 タイトル      Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
 雑誌        JAMA 306:410-9 (2011)
 DOI:10.1001/jama.2011.1029","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01901"">H01901</a>",バレット食道,"Barrett esophagus (BE) is the premalignant lesion of esophageal adenocarcinoma (EAC) defined as specialized intestinal metaplasia (SIM) of the tubular esophagus. According to some studies, the incidence of the esophageal adenocarcinoma in patients with BE is of about 0.5% per year. The major pathogenetic factor in the development of BE is represented by the gastroesophageal reflux disease. BE is characterized by the replacement of the normal squamous epithelium with the columnar epithelium, when the healing of the lesion occurs. Because only a minority of patients (around 10-15%) with gastroesophageal reflux disease have BE, additional factors that play important roles in determining the development of BE must concur. Another frequent association with BE, is represented by nitrate, an increased age, Caucasian race, male sex and hiatal hernia. Recently, it has been reported that mutations in MSR1, ASCC1, and CTHRC1 are associated with this disease.",,"MSR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4481"">4481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06558"">K06558</a>]
 CTHRC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:115908"">115908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25700"">K25700</a>]
 ASCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51008"">51008</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18666"">K18666</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01602"">H01602</a> Gastroesophageal reflux disease (GERD) and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00017"">H00017</a> Esophageal cancer.","ICD-11: DA23
 ICD-10: K22.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001471"">D001471</a>
 OMIM: <a href=""https://www.omim.org/entry/614266"">614266</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21461873"">21461873</a>
 著者        Gilbert EW, Luna RA, Harrison VL, Hunter JG
 タイトル      Barrett's esophagus: a review of the literature.
 雑誌        J Gastrointest Surg 15:708-18 (2011)
 DOI:<a href=""https://doi.org/10.1007/s11605-011-1485-y"">10.1007/s11605-011-1485-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25870690"">25870690</a>
 著者        Gindea C, Birla R, Hoara P, Caragui A, Constantinoiu S
 タイトル      Barrett esophagus: history, definition and etiopathogeny.
 雑誌        J Med Life 7 Spec No. 3:23-30 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21791690"">21791690</a>
 著者        Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C
 タイトル      Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
 雑誌        JAMA 306:410-9 (2011)
 DOI:<a href=""https://doi.org/10.1001/jama.2011.1029"">10.1001/jama.2011.1029</a>"
H01902,"脆弱角膜症候群
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.",先天奇形,,"(BCS1) ZNF469 [HSA:84627]
 (BCS2) PRDM5 [HSA:11107] [KO:K22534]",,,,,"Formerly, BCS1 was called Ehlers-Danlos syndrome type VIB.
 See also H00802 Ehlers-Danlos syndrome (EDS).","ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C536192
 OMIM: 229200 614170","PMID:23680354
 著者        Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C
 タイトル      ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
 雑誌        Mol Genet Metab 109:289-95 (2013)
 DOI:10.1016/j.ymgme.2013.04.014
 PMID:26560304
 著者        Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC
 タイトル      Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
 雑誌        Orphanet J Rare Dis 10:145 (2015)
 DOI:10.1186/s13023-015-0360-4
 PMID:18452888 (ZNF469)
 著者        Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E
 タイトル      Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
 雑誌        Am J Hum Genet 82:1217-22 (2008)
 DOI:10.1016/j.ajhg.2008.04.001
 PMID:21664999 (PRDM5)
 著者        Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM
 タイトル      Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
 雑誌        Am J Hum Genet 88:767-777 (2011)
 DOI:10.1016/j.ajhg.2011.05.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01902"">H01902</a>","脆弱角膜症候群
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.",,"(BCS1) ZNF469 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84627"">84627</a>]
 (BCS2) PRDM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11107"">11107</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22534"">K22534</a>]",,,,,"Formerly, BCS1 was called Ehlers-Danlos syndrome type VIB.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a> Ehlers-Danlos syndrome (EDS).","ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536192"">C536192</a>
 OMIM: <a href=""https://www.omim.org/entry/229200"">229200</a> <a href=""https://www.omim.org/entry/614170"">614170</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23680354"">23680354</a>
 著者        Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C
 タイトル      ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
 雑誌        Mol Genet Metab 109:289-95 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2013.04.014"">10.1016/j.ymgme.2013.04.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26560304"">26560304</a>
 著者        Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC
 タイトル      Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
 雑誌        Orphanet J Rare Dis 10:145 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13023-015-0360-4"">10.1186/s13023-015-0360-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18452888"">18452888</a> (ZNF469)
 著者        Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E
 タイトル      Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
 雑誌        Am J Hum Genet 82:1217-22 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.04.001"">10.1016/j.ajhg.2008.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21664999"">21664999</a> (PRDM5)
 著者        Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM
 タイトル      Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
 雑誌        Am J Hum Genet 88:767-777 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.007"">10.1016/j.ajhg.2011.05.007</a>"
H01903,"Brown-Vialetto-Van Laere 症候群
 上位グループ    小児進行性球麻痺 [DS:H00841]
 リボフラビン欠乏症 [DS:H02544]",,,Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.,神経変性疾患,,"(BVVLS1) SLC52A3 [HSA:113278] [KO:K14620]
 (BVVLS2) SLC52A2 [HSA:79581] [KO:K22117]",,,,,See also H00841 Infantile progressive bulbar palsy.,"ICD-11: LD2H.Y
 ICD-10: G12.1
 OMIM: 211530 614707","PMID:27702554
 著者        Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B
 タイトル      SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
 雑誌        Clin Chim Acta 462:210-214 (2016)
 DOI:10.1016/j.cca.2016.09.022
 PMID:22864630
 著者        Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H
 タイトル      Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
 雑誌        J Inherit Metab Dis 35:943-8 (2012)
 DOI:10.1007/s10545-012-9513-y
 PMID:24253200
 著者        Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H
 タイトル      Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
 雑誌        Brain 137:44-56 (2014)
 DOI:10.1093/brain/awt315","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01903"">H01903</a>","Brown-Vialetto-Van Laere 症候群
 上位グループ    小児進行性球麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00841"">H00841</a>]
 リボフラビン欠乏症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02544"">H02544</a>]",Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.,,"(BVVLS1) SLC52A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113278"">113278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14620"">K14620</a>]
 (BVVLS2) SLC52A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79581"">79581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22117"">K22117</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00841"">H00841</a> Infantile progressive bulbar palsy.","ICD-11: LD2H.Y
 ICD-10: G12.1
 OMIM: <a href=""https://www.omim.org/entry/211530"">211530</a> <a href=""https://www.omim.org/entry/614707"">614707</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27702554"">27702554</a>
 著者        Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B
 タイトル      SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
 雑誌        Clin Chim Acta 462:210-214 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.cca.2016.09.022"">10.1016/j.cca.2016.09.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22864630"">22864630</a>
 著者        Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H
 タイトル      Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
 雑誌        J Inherit Metab Dis 35:943-8 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10545-012-9513-y"">10.1007/s10545-012-9513-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24253200"">24253200</a>
 著者        Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H
 タイトル      Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
 雑誌        Brain 137:44-56 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt315"">10.1093/brain/awt315</a>"
H01904,"線状皮膚欠損を伴う小眼球症;
 多発性先天奇形を伴う線状皮膚欠損;
 MIDAS 症候群",,,"Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with multiple congenital anomalies (LSDMCA). Distinctive linear skin defects are usually limited to the face and neck with areas of aplastic skin. Additional features include facial dysmorphisms, sclerocornea, corneal opacities, agenesis of the corpus callosum, ventriculomegaly, microcephaly, intellectual disability, seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC), have been identified in MLS-affected females.",先天奇形,,"(LSDMCA1) HCCS [HSA:3052] [KO:K01764]
 (LSDMCA2) COX7B [HSA:1349] [KO:K02271]
 (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351]",,,,,,"ICD-11: LD21.0
 ICD-10: Q89.7
 MeSH: C537466
 OMIM: 309801 300887 300952","PMID:33670341
 著者        Indrieri A, Franco B
 タイトル      Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
 雑誌        Genes (Basel) 12:263 (2021)
 DOI:10.3390/genes12020263
 PMID:17033964 (HCCS)
 著者        Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
 タイトル      Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 79:878-89 (2006)
 DOI:10.1086/508474
 PMID:23122588 (COX7B)
 著者        Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B
 タイトル      Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
 雑誌        Am J Hum Genet 91:942-9 (2012)
 DOI:10.1016/j.ajhg.2012.09.016
 PMID:25772934 (NDUFB11)
 著者        van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
 タイトル      Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 96:640-50 (2015)
 DOI:10.1016/j.ajhg.2015.02.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01904"">H01904</a>","線状皮膚欠損を伴う小眼球症;
 多発性先天奇形を伴う線状皮膚欠損;
 MIDAS 症候群","Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with multiple congenital anomalies (LSDMCA). Distinctive linear skin defects are usually limited to the face and neck with areas of aplastic skin. Additional features include facial dysmorphisms, sclerocornea, corneal opacities, agenesis of the corpus callosum, ventriculomegaly, microcephaly, intellectual disability, seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC), have been identified in MLS-affected females.",,"(LSDMCA1) HCCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3052"">3052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01764"">K01764</a>]
 (LSDMCA2) COX7B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1349"">1349</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02271"">K02271</a>]
 (LSDMCA3) NDUFB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54539"">54539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11351"">K11351</a>]",,,,,,"ICD-11: LD21.0
 ICD-10: Q89.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537466"">C537466</a>
 OMIM: <a href=""https://www.omim.org/entry/309801"">309801</a> <a href=""https://www.omim.org/entry/300887"">300887</a> <a href=""https://www.omim.org/entry/300952"">300952</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33670341"">33670341</a>
 著者        Indrieri A, Franco B
 タイトル      Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
 雑誌        Genes (Basel) 12:263 (2021)
 DOI:<a href=""https://doi.org/10.3390/genes12020263"">10.3390/genes12020263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033964"">17033964</a> (HCCS)
 著者        Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
 タイトル      Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 79:878-89 (2006)
 DOI:<a href=""https://doi.org/10.1086/508474"">10.1086/508474</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23122588"">23122588</a> (COX7B)
 著者        Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B
 タイトル      Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
 雑誌        Am J Hum Genet 91:942-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.09.016"">10.1016/j.ajhg.2012.09.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25772934"">25772934</a> (NDUFB11)
 著者        van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
 タイトル      Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 96:640-50 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.002"">10.1016/j.ajhg.2015.02.002</a>"
H01905,長睫毛症,,,"Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial trait. Congenital syndromes that include eyelash trichomegaly as a defining diagnostic feature, are Oliver-McFarlane syndrome [DS:H01898] and Cornelia de Lange syndrome [DS:H00631]. It has been identified that mutations in FGF5 underlie the trichomegaly. There are also acquired conditions and drugs that are known to cause eyelash trichomegaly. For example, acquired conditions, such as allergic rhinitis, atopic dermatitis, HIV infection, and certain eye diseases, have commonly been reported to be associated with increased length of the eyelashes.",皮膚疾患,,FGF5 [HSA:2250] [KO:K04358],,"Bimatoprost, Latanoprost, Travoprost, Cetuximab, Erlotinib",,,See also H01898 PNPLA6-related disorders and H00631 Cornelia de Lange syndrome.,"ICD-11: LD27.0Y
 ICD-10: H02.7
 OMIM: 190330","PMID:22607279
 著者        Paul LJ, Cohen PR, Kurzrock R
 タイトル      Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes.
 雑誌        Int J Dermatol 51:631-46; quiz 643-4, 646 (2012)
 DOI:10.1111/j.1365-4632.2011.05315.x
 PMID:24989505
 著者        Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM
 タイトル      FGF5 is a crucial regulator of hair length in humans.
 雑誌        Proc Natl Acad Sci U S A 111:10648-53 (2014)
 DOI:10.1073/pnas.1402862111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01905"">H01905</a>",長睫毛症,"Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial trait. Congenital syndromes that include eyelash trichomegaly as a defining diagnostic feature, are Oliver-McFarlane syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01898"">H01898</a>] and Cornelia de Lange syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00631]."">H00631].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:identified"">identified</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:FGF5"">FGF5</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:underlie"">underlie</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:trichomegaly."">trichomegaly.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:There"">There</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acquired"">acquired</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:conditions"">conditions</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:drugs"">drugs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:known"">known</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:eyelash"">eyelash</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:trichomegaly."">trichomegaly.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:For"">For</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:example,"">example,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acquired"">acquired</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:conditions,"">conditions,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:such"">such</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:allergic"">allergic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:rhinitis,"">rhinitis,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:atopic"">atopic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dermatitis,"">dermatitis,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:HIV"">HIV</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infection,"">infection,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:certain"">certain</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:eye"">eye</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diseases,"">diseases,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:commonly"">commonly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported"">reported</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:associated"">associated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:increased"">increased</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:length"">length</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:eyelashes."">eyelashes.</a>",,"FGF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2250"">2250</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]",,"Bimatoprost, Latanoprost, Travoprost, Cetuximab, Erlotinib",,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01898"">H01898</a> PNPLA6-related disorders and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00631"">H00631</a> Cornelia de Lange syndrome.","ICD-11: LD27.0Y
 ICD-10: H02.7
 OMIM: <a href=""https://www.omim.org/entry/190330"">190330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22607279"">22607279</a>
 著者        Paul LJ, Cohen PR, Kurzrock R
 タイトル      Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes.
 雑誌        Int J Dermatol 51:631-46; quiz 643-4, 646 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2011.05315.x"">10.1111/j.1365-4632.2011.05315.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24989505"">24989505</a>
 著者        Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM
 タイトル      FGF5 is a crucial regulator of hair length in humans.
 雑誌        Proc Natl Acad Sci U S A 111:10648-53 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1402862111"">10.1073/pnas.1402862111</a>"
H01906,腱性拘縮・ミオパチー・肺線維症を伴う遺伝性線維化多形皮膚萎縮症,,,"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contractures especially involve the ankles and feet and cause gait disturbance. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.",先天奇形,,FAM111B [HSA:374393] [KO:K24275],,,,,,"ICD-11: EC10
 ICD-10: L81.6
 OMIM: 615704","PMID:27748098
 著者        Mercier S, Kury S, Barbarot S
 タイトル      Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
 雑誌        GeneReviews (1993)
 PMID:24268661
 著者        Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM
 タイトル      Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
 雑誌        Am J Hum Genet 93:1100-7 (2013)
 DOI:10.1016/j.ajhg.2013.10.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01906"">H01906</a>",腱性拘縮・ミオパチー・肺線維症を伴う遺伝性線維化多形皮膚萎縮症,"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contractures especially involve the ankles and feet and cause gait disturbance. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.",,"FAM111B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374393"">374393</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24275"">K24275</a>]",,,,,,"ICD-11: EC10
 ICD-10: L81.6
 OMIM: <a href=""https://www.omim.org/entry/615704"">615704</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27748098"">27748098</a>
 著者        Mercier S, Kury S, Barbarot S
 タイトル      Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24268661"">24268661</a>
 著者        Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM
 タイトル      Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
 雑誌        Am J Hum Genet 93:1100-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.013"">10.1016/j.ajhg.2013.10.013</a>"
H01907,酸不安定サブユニット欠損症,,,"Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment.",内分泌系疾患,,IGFALS [HSA:3483] [KO:K17256],,,,,See also H00254 Pituitary Dwarfism.,"ICD-11: 5A61.0
 ICD-10: E34.3
 OMIM: 615961","PMID:21396577
 著者        Domene HM, Hwa V, Jasper HG, Rosenfeld RG
 タイトル      Acid-labile subunit (ALS) deficiency.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:101-13 (2011)
 DOI:10.1016/j.beem.2010.08.010
 PMID:11431138
 著者        Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT
 タイトル      The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.
 雑誌        J Endocrinol 170:63-70 (2001)
 DOI:10.1677/joe.0.1700063
 PMID:18303074 (marker)
 著者        Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A
 タイトル      Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
 雑誌        J Clin Endocrinol Metab 93:1616-24 (2008)
 DOI:10.1210/jc.2007-2678
 PMID:17726072
 著者        Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG
 タイトル      Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
 雑誌        J Clin Endocrinol Metab 92:4444-50 (2007)
 DOI:10.1210/jc.2007-1152","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01907"">H01907</a>",酸不安定サブユニット欠損症,"Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment.",,"IGFALS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3483"">3483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17256"">K17256</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a> Pituitary Dwarfism.","ICD-11: 5A61.0
 ICD-10: E34.3
 OMIM: <a href=""https://www.omim.org/entry/615961"">615961</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21396577"">21396577</a>
 著者        Domene HM, Hwa V, Jasper HG, Rosenfeld RG
 タイトル      Acid-labile subunit (ALS) deficiency.
 雑誌        Best Pract Res Clin Endocrinol Metab 25:101-13 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.beem.2010.08.010"">10.1016/j.beem.2010.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11431138"">11431138</a>
 著者        Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT
 タイトル      The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.
 雑誌        J Endocrinol 170:63-70 (2001)
 DOI:<a href=""https://doi.org/10.1677/joe.0.1700063"">10.1677/joe.0.1700063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18303074"">18303074</a> (marker)
 著者        Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A
 タイトル      Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
 雑誌        J Clin Endocrinol Metab 93:1616-24 (2008)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-2678"">10.1210/jc.2007-2678</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17726072"">17726072</a>
 著者        Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG
 タイトル      Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
 雑誌        J Clin Endocrinol Metab 92:4444-50 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-1152"">10.1210/jc.2007-1152</a>"
H01908,Carey‐Fineman‐Ziter 症候群,,,"Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.",先天奇形,,MYMK [HSA:389827] [KO:K24577],,,,,See also H01840 Moebius syndrome.,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C536102
 OMIM: 254940","PMID:15150779
 著者        Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN
 タイトル      Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
 雑誌        Am J Med Genet A 127A:277-87 (2004)
 DOI:10.1002/ajmg.a.20687
 PMID:25848803
 著者        Kam K, McKay M, MacLean J, Witmans M, Spier S, Mitchell I
 タイトル      Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence.
 雑誌        Can Respir J 22:171-5 (2015)
 DOI:10.1155/2015/798076
 PMID:28681861
 著者        Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bonnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC
 タイトル      A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
 雑誌        Nat Commun 8:16077 (2017)
 DOI:10.1038/ncomms16077","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01908"">H01908</a>",Carey‐Fineman‐Ziter 症候群,"Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.",,"MYMK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:389827"">389827</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24577"">K24577</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01840"">H01840</a> Moebius syndrome.","ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536102"">C536102</a>
 OMIM: <a href=""https://www.omim.org/entry/254940"">254940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15150779"">15150779</a>
 著者        Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN
 タイトル      Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
 雑誌        Am J Med Genet A 127A:277-87 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20687"">10.1002/ajmg.a.20687</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25848803"">25848803</a>
 著者        Kam K, McKay M, MacLean J, Witmans M, Spier S, Mitchell I
 タイトル      Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence.
 雑誌        Can Respir J 22:171-5 (2015)
 DOI:<a href=""https://doi.org/10.1155/2015/798076"">10.1155/2015/798076</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28681861"">28681861</a>
 著者        Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bonnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC
 タイトル      A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
 雑誌        Nat Commun 8:16077 (2017)
 DOI:<a href=""https://doi.org/10.1038/ncomms16077"">10.1038/ncomms16077</a>"
H01909,Hypoinsulinemic hypoglycemia with hemihypertrophy,,,"Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic hypoinsulinaemic hypoglycemia with no detectable incompletely processed high molecular weight IGF-II precursor proteins or insulin autoantibodies. There is no evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2.",先天代謝異常症,,AKT2 [HSA:208] [KO:K04456],,,,,,"ICD-11: 5A41 LD2C
 OMIM: 240900","PMID:21979934
 著者        Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK
 タイトル      An activating mutation of AKT2 and human hypoglycemia.
 雑誌        Science 334:474 (2011)
 DOI:10.1126/science.1210878
 PMID:14764948
 著者        Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A
 タイトル      Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.
 雑誌        Horm Res 61:222-7 (2004)
 DOI:10.1159/000076553","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01909"">H01909</a>",Hypoinsulinemic hypoglycemia with hemihypertrophy,"Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00713"">H00713</a>] and persistent hypoketotic, hypofattyacidemic hypoinsulinaemic hypoglycemia with no detectable incompletely processed high molecular weight IGF-II precursor proteins or insulin autoantibodies. There is no evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2.",,"AKT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:208"">208</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]",,,,,,"ICD-11: 5A41 LD2C
 OMIM: <a href=""https://www.omim.org/entry/240900"">240900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21979934"">21979934</a>
 著者        Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK
 タイトル      An activating mutation of AKT2 and human hypoglycemia.
 雑誌        Science 334:474 (2011)
 DOI:<a href=""https://doi.org/10.1126/science.1210878"">10.1126/science.1210878</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14764948"">14764948</a>
 著者        Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A
 タイトル      Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.
 雑誌        Horm Res 61:222-7 (2004)
 DOI:<a href=""https://doi.org/10.1159/000076553"">10.1159/000076553</a>"
H01910,乳児筋線維腫症,,,"Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 months of age, with few reports of adult onset. It can occur in three forms: solitary, multicentric or generalised. The solitary form is the commonest and occurs as a single cutaneous nodule. The multicentric form involves the skin, subcutaneous tissues, muscles, and bone. The course is generally benign, with no metastases and regression of the tumor over a period of 12 to 18 months. The generalized form is associated with visceral involvement. This condition has serious prognostic implications as there is a 76% mortality from cardiopulmonary or gastrointestinal complications. While most cases of IM appear to be sporadic, there have been several reports of autosomal dominant inheritance pattern. Mutations in the PDGFRB and NOTCH3 genes were recently identified in patients with IM. Treatment options vary widely. Solitary and even multicentric lesions that are confined to the skin and subcutaneous tissues without visceral involvement frequently regress spontaneously. However, calcification and atrophic scars can remain after lesion regression. Extensive surgery has been reported to be beneficial for multicentric disease, as has chemotherapy.",皮膚および結合組織疾患; がん,,"(IMF1) PDGFRB [HSA:5159] [KO:K05089]
 (IMF2) NOTCH3 [HSA:4854] [KO:K20995]",,,,,,"ICD-11: 2F23.Y
 ICD-10: D48.1
 OMIM: 228550 615293","PMID:7284977
 著者        Chung EB, Enzinger FM
 タイトル      Infantile myofibromatosis.
 雑誌        Cancer 48:1807-18 (1981)
 DOI:10.1002/1097-0142(19811015)48:8<1807::AID-CNCR2820480818>3.0.CO;2-G
 PMID:18074145
 著者        Gopal M, Chahal G, Al-Rifai Z, Eradi B, Ninan G, Nour S
 タイトル      Infantile myofibromatosis.
 雑誌        Pediatr Surg Int 24:287-91 (2008)
 DOI:10.1007/s00383-007-2091-7
 PMID:24894456
 著者        Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
 タイトル      Infantile myofibromatosis: a series of 28 cases.
 雑誌        J Am Acad Dermatol 71:264-70 (2014)
 DOI:10.1016/j.jaad.2014.03.035
 PMID:26632798
 著者        Amano S, Halsey M, Yasuda M, O'Donnell P, Csikesz C
 タイトル      Infantile myofibroma: a firm, round plaque in an infant.
 雑誌        Dermatol Online J 21:13030/qt6b86m5q5 (2015)
 PMID:28512196
 著者        Masek J, Andersson ER
 タイトル      The developmental biology of genetic Notch disorders.
 雑誌        Development 144:1743-1763 (2017)
 DOI:10.1242/dev.148007
 PMID:23731542
 著者        Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H
 タイトル      Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
 雑誌        Am J Hum Genet 92:1001-7 (2013)
 DOI:10.1016/j.ajhg.2013.04.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01910"">H01910</a>",乳児筋線維腫症,"Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 months of age, with few reports of adult onset. It can occur in three forms: solitary, multicentric or generalised. The solitary form is the commonest and occurs as a single cutaneous nodule. The multicentric form involves the skin, subcutaneous tissues, muscles, and bone. The course is generally benign, with no metastases and regression of the tumor over a period of 12 to 18 months. The generalized form is associated with visceral involvement. This condition has serious prognostic implications as there is a 76% mortality from cardiopulmonary or gastrointestinal complications. While most cases of IM appear to be sporadic, there have been several reports of autosomal dominant inheritance pattern. Mutations in the PDGFRB and NOTCH3 genes were recently identified in patients with IM. Treatment options vary widely. Solitary and even multicentric lesions that are confined to the skin and subcutaneous tissues without visceral involvement frequently regress spontaneously. However, calcification and atrophic scars can remain after lesion regression. Extensive surgery has been reported to be beneficial for multicentric disease, as has chemotherapy.",,"(IMF1) PDGFRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5159"">5159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05089"">K05089</a>]
 (IMF2) NOTCH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4854"">4854</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20995"">K20995</a>]",,,,,,"ICD-11: 2F23.Y
 ICD-10: D48.1
 OMIM: <a href=""https://www.omim.org/entry/228550"">228550</a> <a href=""https://www.omim.org/entry/615293"">615293</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7284977"">7284977</a>
 著者        Chung EB, Enzinger FM
 タイトル      Infantile myofibromatosis.
 雑誌        Cancer 48:1807-18 (1981)
 DOI:<a href=""https://doi.org/10.1002/1097-0142(19811015)48:"">10.1002/1097-0142(19811015)48:</a><a href=""https://doi.org/8<1807:"">8<1807:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-CNCR2820480818>3.0.CO;2-G"">AID-CNCR2820480818>3.0.CO;2-G</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18074145"">18074145</a>
 著者        Gopal M, Chahal G, Al-Rifai Z, Eradi B, Ninan G, Nour S
 タイトル      Infantile myofibromatosis.
 雑誌        Pediatr Surg Int 24:287-91 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00383-007-2091-7"">10.1007/s00383-007-2091-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24894456"">24894456</a>
 著者        Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
 タイトル      Infantile myofibromatosis: a series of 28 cases.
 雑誌        J Am Acad Dermatol 71:264-70 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2014.03.035"">10.1016/j.jaad.2014.03.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26632798"">26632798</a>
 著者        Amano S, Halsey M, Yasuda M, O'Donnell P, Csikesz C
 タイトル      Infantile myofibroma: a firm, round plaque in an infant.
 雑誌        Dermatol Online J 21:13030/qt6b86m5q5 (2015)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28512196"">28512196</a>
 著者        Masek J, Andersson ER
 タイトル      The developmental biology of genetic Notch disorders.
 雑誌        Development 144:1743-1763 (2017)
 DOI:<a href=""https://doi.org/10.1242/dev.148007"">10.1242/dev.148007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23731542"">23731542</a>
 著者        Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H
 タイトル      Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
 雑誌        Am J Hum Genet 92:1001-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.024"">10.1016/j.ajhg.2013.04.024</a>"
H01911,"常染色体劣性精神遅滞症候群
 下位グループ    滑脳症を伴う常染色体劣性精神遅滞 (MRT34)
 精神遅滞・上顎前突・ 斜視 (MRAMS)
 高ホスファターゼ症-精神遅滞症候群 [DS:H01488]",,,"Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.",精神及び行動の障害,,"(MRT34) CRADD [HSA:8738] [KO:K02832]
 (MRAMS) SOBP [HSA:55084]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: D008607
 OMIM: 614499 613671","PMID:21937992
 著者        Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
 タイトル      Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
 雑誌        Nature 478:57-63 (2011)
 DOI:10.1038/nature10423
 PMID:27773430
 著者        Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN
 タイトル      Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
 雑誌        Am J Hum Genet 99:1117-1129 (2016)
 DOI:10.1016/j.ajhg.2016.09.010
 PMID:17618476
 著者        Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R
 タイトル      Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.
 雑誌        Am J Med Genet A 143A:1687-91 (2007)
 DOI:10.1002/ajmg.a.31810","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01911"">H01911</a>","常染色体劣性精神遅滞症候群
 下位グループ    滑脳症を伴う常染色体劣性精神遅滞 (MRT34)
 精神遅滞・上顎前突・ 斜視 (MRAMS)
 高ホスファターゼ症-精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01488"">H01488</a>]","Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.",,"(MRT34) CRADD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8738"">8738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02832"">K02832</a>]
 (MRAMS) SOBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55084"">55084</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008607"">D008607</a>
 OMIM: <a href=""https://www.omim.org/entry/614499"">614499</a> <a href=""https://www.omim.org/entry/613671"">613671</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21937992"">21937992</a>
 著者        Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH
 タイトル      Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
 雑誌        Nature 478:57-63 (2011)
 DOI:<a href=""https://doi.org/10.1038/nature10423"">10.1038/nature10423</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27773430"">27773430</a>
 著者        Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN
 タイトル      Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
 雑誌        Am J Hum Genet 99:1117-1129 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.010"">10.1016/j.ajhg.2016.09.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17618476"">17618476</a>
 著者        Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R
 タイトル      Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.
 雑誌        Am J Med Genet A 143A:1687-91 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31810"">10.1002/ajmg.a.31810</a>"
H01912,CLOVE 症候群,,,"Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.",先天奇形,,PIK3CA [HSA:5290] [KO:K00922],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C567863
 OMIM: 612918","PMID:17963221
 著者        Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG
 タイトル      Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.
 雑誌        Am J Med Genet A 143A:2944-58 (2007)
 DOI:10.1002/ajmg.a.32023
 PMID:25241100
 著者        Uller W, Fishman SJ, Alomari AI
 タイトル      Overgrowth syndromes with complex vascular anomalies.
 雑誌        Semin Pediatr Surg 23:208-15 (2014)
 DOI:10.1053/j.sempedsurg.2014.06.013
 PMID:18816642
 著者        Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG
 タイトル      Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.
 雑誌        Am J Med Genet A 146A:2688-90 (2008)
 DOI:10.1002/ajmg.a.32515
 PMID:24161472
 著者        Bloom J, Upton J 3rd
 タイトル      CLOVES syndrome.
 雑誌        J Hand Surg Am 38:2508-12 (2013)
 DOI:10.1016/j.jhsa.2013.08.120
 PMID:22658544
 著者        Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML
 タイトル      Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
 雑誌        Am J Hum Genet 90:1108-15 (2012)
 DOI:10.1016/j.ajhg.2012.05.006
 PMID:22729222
 著者        Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK
 タイトル      Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
 雑誌        Nat Genet 44:928-33 (2012)
 DOI:10.1038/ng.2332","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01912"">H01912</a>",CLOVE 症候群,"Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.",,"PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567863"">C567863</a>
 OMIM: <a href=""https://www.omim.org/entry/612918"">612918</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17963221"">17963221</a>
 著者        Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG
 タイトル      Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.
 雑誌        Am J Med Genet A 143A:2944-58 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32023"">10.1002/ajmg.a.32023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25241100"">25241100</a>
 著者        Uller W, Fishman SJ, Alomari AI
 タイトル      Overgrowth syndromes with complex vascular anomalies.
 雑誌        Semin Pediatr Surg 23:208-15 (2014)
 DOI:<a href=""https://doi.org/10.1053/j.sempedsurg.2014.06.013"">10.1053/j.sempedsurg.2014.06.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18816642"">18816642</a>
 著者        Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG
 タイトル      Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.
 雑誌        Am J Med Genet A 146A:2688-90 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32515"">10.1002/ajmg.a.32515</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24161472"">24161472</a>
 著者        Bloom J, Upton J 3rd
 タイトル      CLOVES syndrome.
 雑誌        J Hand Surg Am 38:2508-12 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jhsa.2013.08.120"">10.1016/j.jhsa.2013.08.120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22658544"">22658544</a>
 著者        Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML
 タイトル      Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
 雑誌        Am J Hum Genet 90:1108-15 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.006"">10.1016/j.ajhg.2012.05.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22729222"">22729222</a>
 著者        Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK
 タイトル      Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
 雑誌        Nat Genet 44:928-33 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2332"">10.1038/ng.2332</a>"
H01913,"レンペニング症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.",先天奇形,,PQBP1 [HSA:10084] [KO:K12865],,,,,"It has been demonstrated that five named XLMR syndromes (Sutherland-Haan, Hamel cerebropalatocardiac, Golabi-Ito-Hall, Porteous, and Renpenning), one nonsyndromic family (MRX55), and three small XLMR families have PQBP1 mutations. Since 2003, they are grouped under the common name of Renpenning syndrome.","ICD-11: LD90.Y
 ICD-10: Q87.5
 MeSH: C537761
 OMIM: 309500","PMID:15782410
 著者        Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE
 タイトル      Renpenning syndrome comes into focus.
 雑誌        Am J Med Genet A 134:415-21 (2005)
 DOI:10.1002/ajmg.a.30664
 PMID:28073926
 著者        Zhang XY, Qi J, Shen YQ, Liu X, Liu A, Zhou Z, Han J, Zhang ZC
 タイトル      Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
 雑誌        Hum Mol Genet 26:955-968 (2017)
 DOI:10.1093/hmg/ddx010
 PMID:15024694
 著者        Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE
 タイトル      Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
 雑誌        Am J Hum Genet 74:777-80 (2004)
 DOI:10.1086/383205","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01913"">H01913</a>","レンペニング症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.",,"PQBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10084"">10084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12865"">K12865</a>]",,,,,"It has been demonstrated that five named XLMR syndromes (Sutherland-Haan, Hamel cerebropalatocardiac, Golabi-Ito-Hall, Porteous, and Renpenning), one nonsyndromic family (MRX55), and three small XLMR families have PQBP1 mutations. Since 2003, they are grouped under the common name of Renpenning syndrome.","ICD-11: LD90.Y
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537761"">C537761</a>
 OMIM: <a href=""https://www.omim.org/entry/309500"">309500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15782410"">15782410</a>
 著者        Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE
 タイトル      Renpenning syndrome comes into focus.
 雑誌        Am J Med Genet A 134:415-21 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30664"">10.1002/ajmg.a.30664</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28073926"">28073926</a>
 著者        Zhang XY, Qi J, Shen YQ, Liu X, Liu A, Zhou Z, Han J, Zhang ZC
 タイトル      Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
 雑誌        Hum Mol Genet 26:955-968 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx010"">10.1093/hmg/ddx010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15024694"">15024694</a>
 著者        Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE
 タイトル      Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
 雑誌        Am J Hum Genet 74:777-80 (2004)
 DOI:<a href=""https://doi.org/10.1086/383205"">10.1086/383205</a>"
H01914,"クリスチャンソン症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent speech. The clinical phenotype of CS mimics Angelman syndrome and CS was initially called X-linked Angelman-like syndrome.",先天奇形,,SLC9A6 [HSA:10479] [KO:K12041],,,,,See also H01732 Angelman syndrome (AS) and H00658 Syndromic X-linked mental retardation.,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: C567484
 OMIM: 300243","PMID:24285247
 著者        Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A
 タイトル      Christianson syndrome: spectrum of neuroimaging findings.
 雑誌        Neuropediatrics 45:247-51 (2014)
 DOI:10.1055/s-0033-1363091
 PMID:18342287
 著者        Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P
 タイトル      SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
 雑誌        Am J Hum Genet 82:1003-10 (2008)
 DOI:10.1016/j.ajhg.2008.01.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01914"">H01914</a>","クリスチャンソン症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent speech. The clinical phenotype of CS mimics Angelman syndrome and CS was initially called X-linked Angelman-like syndrome.",,"SLC9A6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10479"">10479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12041"">K12041</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01732"">H01732</a> Angelman syndrome (AS) and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567484"">C567484</a>
 OMIM: <a href=""https://www.omim.org/entry/300243"">300243</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24285247"">24285247</a>
 著者        Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A
 タイトル      Christianson syndrome: spectrum of neuroimaging findings.
 雑誌        Neuropediatrics 45:247-51 (2014)
 DOI:<a href=""https://doi.org/10.1055/s-0033-1363091"">10.1055/s-0033-1363091</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18342287"">18342287</a>
 著者        Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P
 タイトル      SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
 雑誌        Am J Hum Genet 82:1003-10 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.01.013"">10.1016/j.ajhg.2008.01.013</a>"
H01915,"Borjeson-Forssman-Lehmann 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Mutations in the zinc finger gene PHF6 are the cause of BFLS.",先天奇形,,PHF6 [HSA:84295] [KO:K23310],,,,,See also H00658 Syndromic X-linked mental retardation.,"ICD-11: LD29
 ICD-10: Q87.8
 MeSH: C536575
 OMIM: 301900","PMID:16912705
 著者        Gecz J, Turner G, Nelson J, Partington M
 タイトル      The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
 雑誌        Eur J Hum Genet 14:1233-7 (2006)
 DOI:10.1038/sj.ejhg.5201639
 PMID:14756673
 著者        Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M
 タイトル      The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
 雑誌        Clin Genet 65:226-32 (2004)
 DOI:10.1111/j.0009-9163.2004.00215.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01915"">H01915</a>","Borjeson-Forssman-Lehmann 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Mutations in the zinc finger gene PHF6 are the cause of BFLS.",,"PHF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84295"">84295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23310"">K23310</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD29
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536575"">C536575</a>
 OMIM: <a href=""https://www.omim.org/entry/301900"">301900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16912705"">16912705</a>
 著者        Gecz J, Turner G, Nelson J, Partington M
 タイトル      The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
 雑誌        Eur J Hum Genet 14:1233-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201639"">10.1038/sj.ejhg.5201639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14756673"">14756673</a>
 著者        Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M
 タイトル      The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
 雑誌        Clin Genet 65:226-32 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0009-9163.2004.00215.x"">10.1111/j.0009-9163.2004.00215.x</a>"
H01916,"Stocco dos Santos X連鎖性精神遅滞症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease.",先天奇形,,SHROOM4 [HSA:57477] [KO:K18625],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: C537495
 OMIM: 300434","PMID:12673656 (marker)
 著者        Stocco dos Santos RC, Castro NH, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
 タイトル      Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
 雑誌        Am J Med Genet A 118A:255-9 (2003)
 DOI:10.1002/ajmg.a.20021
 PMID:16249884
 著者        Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A
 タイトル      Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
 雑誌        Hum Genet 118:578-90 (2006)
 DOI:10.1007/s00439-005-0072-2
 PMID:17009331
 著者        Yoder M, Hildebrand JD
 タイトル      Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization.
 雑誌        Cell Motil Cytoskeleton 64:49-63 (2007)
 DOI:10.1002/cm.20167","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01916"">H01916</a>","Stocco dos Santos X連鎖性精神遅滞症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease.",,"SHROOM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57477"">57477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18625"">K18625</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537495"">C537495</a>
 OMIM: <a href=""https://www.omim.org/entry/300434"">300434</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12673656"">12673656</a> (marker)
 著者        Stocco dos Santos RC, Castro NH, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE
 タイトル      Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
 雑誌        Am J Med Genet A 118A:255-9 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20021"">10.1002/ajmg.a.20021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16249884"">16249884</a>
 著者        Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A
 タイトル      Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
 雑誌        Hum Genet 118:578-90 (2006)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-0072-2"">10.1007/s00439-005-0072-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17009331"">17009331</a>
 著者        Yoder M, Hildebrand JD
 タイトル      Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization.
 雑誌        Cell Motil Cytoskeleton 64:49-63 (2007)
 DOI:<a href=""https://doi.org/10.1002/cm.20167"">10.1002/cm.20167</a>"
H01917,"CK 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature. Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway.",先天奇形,,NSDHL [HSA:50814] [KO:K07748],,,,,See also H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) and H00658 Syndromic X-linked mental retardation.,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C563110
 OMIM: 300831","PMID:21290788
 著者        du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF
 タイトル      NSDHL-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:19842190
 著者        du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
 タイトル      Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
 雑誌        Am J Med Genet A 149A:2469-78 (2009)
 DOI:10.1002/ajmg.a.33071
 PMID:21129721 (gene, marker)
 著者        McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF
 タイトル      Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
 雑誌        Am J Hum Genet 87:905-14 (2010)
 DOI:10.1016/j.ajhg.2010.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01917"">H01917</a>","CK 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature. Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway.",,"NSDHL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50814"">50814</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07748"">K07748</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00496"">H00496</a> Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563110"">C563110</a>
 OMIM: <a href=""https://www.omim.org/entry/300831"">300831</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21290788"">21290788</a>
 著者        du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF
 タイトル      NSDHL-Related Disorders
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19842190"">19842190</a>
 著者        du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
 タイトル      Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
 雑誌        Am J Med Genet A 149A:2469-78 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33071"">10.1002/ajmg.a.33071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21129721"">21129721</a> (gene, <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF
 タイトル      Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
 雑誌        Am J Hum Genet 87:905-14 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.11.004"">10.1016/j.ajhg.2010.11.004</a>"
H01918,"常染色体劣性遺伝性高コレステロール血症
 上位グループ    家族性高コレステロール血症 [DS:H00155]
 脂質異常症 [DS:H01635]
 脂質異常症 [DS:H01635]",,,"Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.",先天代謝異常症; 循環器疾患,nt06320  APOB-LDLR signaling,LDLRAP1 [HSA:26119] [KO:K12474],,,,,,"ICD-11: 5C80.00
 ICD-10: E78.0
 OMIM: 603813","PMID:15599766 (LDLRAP1)
 著者        Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vazquez A, Ordonez-Sanchez ML, Rodriguez-Torres M, Venturas-Gallegos JL, Riba L, Ramirez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-Garcia A, Rosales-Leon L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferre-D'Amare A, Gomez-Perez FJ, Tusie-Luna MT
 タイトル      A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
 雑誌        Hum Genet 116:114-20 (2005)
 DOI:10.1007/s00439-004-1192-9
 PMID:11326085 (LDLRAP1)
 著者        Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
 タイトル      Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
 雑誌        Science 292:1394-8 (2001)
 DOI:10.1126/science.1060458
 PMID:21513517
 著者        Fahed AC, Nemer GM
 タイトル      Familial hypercholesterolemia: the lipids or the genes?
 雑誌        Nutr Metab (Lond) 8:23 (2011)
 DOI:10.1186/1743-7075-8-23","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01918"">H01918</a>","常染色体劣性遺伝性高コレステロール血症
 上位グループ    家族性高コレステロール血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00155"">H00155</a>]
 脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]
 脂質異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01635"">H01635</a>]","Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00155"">H00155</a>] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.","<a href=""https://www.kegg.jp/network/nt06320"">nt06320</a>  APOB-LDLR signaling","LDLRAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26119"">26119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12474"">K12474</a>]",,,,,,"ICD-11: 5C80.00
 ICD-10: E78.0
 OMIM: <a href=""https://www.omim.org/entry/603813"">603813</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15599766"">15599766</a> (LDLRAP1)
 著者        Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vazquez A, Ordonez-Sanchez ML, Rodriguez-Torres M, Venturas-Gallegos JL, Riba L, Ramirez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-Garcia A, Rosales-Leon L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferre-D'Amare A, Gomez-Perez FJ, Tusie-Luna MT
 タイトル      A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
 雑誌        Hum Genet 116:114-20 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-004-1192-9"">10.1007/s00439-004-1192-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11326085"">11326085</a> (LDLRAP1)
 著者        Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
 タイトル      Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
 雑誌        Science 292:1394-8 (2001)
 DOI:<a href=""https://doi.org/10.1126/science.1060458"">10.1126/science.1060458</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21513517"">21513517</a>
 著者        Fahed AC, Nemer GM
 タイトル      Familial hypercholesterolemia: the lipids or the genes?
 雑誌        Nutr Metab (Lond) 8:23 (2011)
 DOI:<a href=""https://doi.org/10.1186/1743-7075-8-23"">10.1186/1743-7075-8-23</a>"
H01919,"Proud 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Phenotypes associated with ARX mutations include both brain malformation and non-malformation syndromes. Premature termination mutations and missense mutations in the homeobox domain cause malformation syndromes such as Proud syndrome.",先天奇形,,ARX [HSA:170302] [KO:K09452],,,,,See also H00658 Syndromic X-linked mental retardation.,"ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: C563110
 OMIM: 300004","PMID:18823727
 著者        Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y
 タイトル      Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
 雑誌        Brain Dev 31:469-72 (2009)
 DOI:10.1016/j.braindev.2008.08.006
 PMID:14722918
 著者        Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
 タイトル      Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
 雑誌        Hum Mutat 23:147-59 (2004)
 DOI:10.1002/humu.10310","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01919"">H01919</a>","Proud 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Phenotypes associated with ARX mutations include both brain malformation and non-malformation syndromes. Premature termination mutations and missense mutations in the homeobox domain cause malformation syndromes such as Proud syndrome.",,"ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD20.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563110"">C563110</a>
 OMIM: <a href=""https://www.omim.org/entry/300004"">300004</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18823727"">18823727</a>
 著者        Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y
 タイトル      Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
 雑誌        Brain Dev 31:469-72 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.08.006"">10.1016/j.braindev.2008.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14722918"">14722918</a>
 著者        Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
 タイトル      Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
 雑誌        Hum Mutat 23:147-59 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.10310"">10.1002/humu.10310</a>"
H01920,"Partington 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands. The symptoms are extrapyramidal and without cerebellar involvement. ARX gene mutations were reported in various forms of X-linked mental retardation, including Partington syndrome. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Expansion of polyalanine tracts, missense mutation outside the homeodomain and deletions of exon 5 cause non-malformation syndromes such as Partington syndrome.",神経系疾患,,ARX [HSA:170302] [KO:K09452],,,,,See also H00658 Syndromic X-linked mental retardation.,"ICD-11: LD90.Y
 ICD-10: G25.9
 MeSH: C536300
 OMIM: 309510","PMID:18823727
 著者        Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y
 タイトル      Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
 雑誌        Brain Dev 31:469-72 (2009)
 DOI:10.1016/j.braindev.2008.08.006
 PMID:12376949
 著者        Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP
 タイトル      Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
 雑誌        Am J Med Genet 112:427-8 (2002)
 DOI:10.1002/ajmg.10628","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01920"">H01920</a>","Partington 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands. The symptoms are extrapyramidal and without cerebellar involvement. ARX gene mutations were reported in various forms of X-linked mental retardation, including Partington syndrome. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Expansion of polyalanine tracts, missense mutation outside the homeodomain and deletions of exon 5 cause non-malformation syndromes such as Partington syndrome.",,"ARX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170302"">170302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09452"">K09452</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD90.Y
 ICD-10: G25.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536300"">C536300</a>
 OMIM: <a href=""https://www.omim.org/entry/309510"">309510</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18823727"">18823727</a>
 著者        Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y
 タイトル      Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
 雑誌        Brain Dev 31:469-72 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.08.006"">10.1016/j.braindev.2008.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12376949"">12376949</a>
 著者        Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP
 タイトル      Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
 雑誌        Am J Med Genet 112:427-8 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10628"">10.1002/ajmg.10628</a>"
H01921,"MICPCH 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.",先天奇形,,CASK [HSA:8573] [KO:K06103],,,,,See also H00658 Syndromic X-linked mental retardation.,"ICD-11: LD20.2
 ICD-10: Q04.3
 MeSH: C567466
 OMIM: 300749","PMID:23901204
 著者        Saleem R, Setty G, Hussain N
 タイトル      MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.
 雑誌        Indian J Hum Genet 19:104-7 (2013)
 DOI:10.4103/0971-6866.112921
 PMID:21735175
 著者        Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J
 タイトル      Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
 雑誌        Hum Genet 131:99-110 (2012)
 DOI:10.1007/s00439-011-1047-0
 PMID:19165920
 著者        Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
 タイトル      Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
 雑誌        Nat Genet 40:1065-7 (2008)
 DOI:10.1038/ng.194","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01921"">H01921</a>","MICPCH 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.",,"CASK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8573"">8573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06103"">K06103</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a> Syndromic X-linked mental retardation.","ICD-11: LD20.2
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567466"">C567466</a>
 OMIM: <a href=""https://www.omim.org/entry/300749"">300749</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23901204"">23901204</a>
 著者        Saleem R, Setty G, Hussain N
 タイトル      MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.
 雑誌        Indian J Hum Genet 19:104-7 (2013)
 DOI:<a href=""https://doi.org/10.4103/0971-6866.112921"">10.4103/0971-6866.112921</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21735175"">21735175</a>
 著者        Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J
 タイトル      Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
 雑誌        Hum Genet 131:99-110 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00439-011-1047-0"">10.1007/s00439-011-1047-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19165920"">19165920</a>
 著者        Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
 タイトル      Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
 雑誌        Nat Genet 40:1065-7 (2008)
 DOI:<a href=""https://doi.org/10.1038/ng.194"">10.1038/ng.194</a>"
H01922,精神運動遅滞と特徴的顔貌を伴う小児筋緊張低下,,,"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. It is caused by mutations in the cation channel NALCN and UNC80. NALCN has a role in basal sodium ion leak conductance in neurons, essential for neuronal function. UNC80 bridges between UNC79 and NALCN. Recently, pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were also identified.",先天奇形,,"(IHPRF1) NALCN [HSA:259232] [KO:K21863]
 (IHPRF2) UNC80 [HSA:285175] [KO:K24015]
 (IHPRF3) TBCK [HSA:93627] [KO:K17544]
 (IHPMR) CCDC174 [HSA:51244] [KO:K25178]",,,,,IHPMR is an abbreviation for Infantile hypotonia with psychomotor retardation.,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: D009123
 OMIM: 615419 616801 616900 616816","PMID:24075186
 著者        Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N
 タイトル      Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
 雑誌        Am J Hum Genet 93:721-6 (2013)
 DOI:10.1016/j.ajhg.2013.08.001
 PMID:26545877
 著者        Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS
 タイトル      UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
 雑誌        J Med Genet 53:397-402 (2016)
 DOI:10.1136/jmedgenet-2015-103352
 PMID:27040691
 著者        Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H
 タイトル      Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
 雑誌        Am J Hum Genet 98:782-8 (2016)
 DOI:10.1016/j.ajhg.2016.03.016
 PMID:26358778
 著者        Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS
 タイトル      CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
 雑誌        Hum Mol Genet 24:6485-91 (2015)
 DOI:10.1093/hmg/ddv357","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01922"">H01922</a>",精神運動遅滞と特徴的顔貌を伴う小児筋緊張低下,"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. It is caused by mutations in the cation channel NALCN and UNC80. NALCN has a role in basal sodium ion leak conductance in neurons, essential for neuronal function. UNC80 bridges between UNC79 and NALCN. Recently, pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were also identified.",,"(IHPRF1) NALCN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:259232"">259232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21863"">K21863</a>]
 (IHPRF2) UNC80 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285175"">285175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24015"">K24015</a>]
 (IHPRF3) TBCK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93627"">93627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17544"">K17544</a>]
 (IHPMR) CCDC174 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51244"">51244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25178"">K25178</a>]",,,,,IHPMR is an abbreviation for Infantile hypotonia with psychomotor retardation.,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009123"">D009123</a>
 OMIM: <a href=""https://www.omim.org/entry/615419"">615419</a> <a href=""https://www.omim.org/entry/616801"">616801</a> <a href=""https://www.omim.org/entry/616900"">616900</a> <a href=""https://www.omim.org/entry/616816"">616816</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24075186"">24075186</a>
 著者        Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N
 タイトル      Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
 雑誌        Am J Hum Genet 93:721-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.001"">10.1016/j.ajhg.2013.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26545877"">26545877</a>
 著者        Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS
 タイトル      UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
 雑誌        J Med Genet 53:397-402 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103352"">10.1136/jmedgenet-2015-103352</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27040691"">27040691</a>
 著者        Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H
 タイトル      Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
 雑誌        Am J Hum Genet 98:782-8 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.016"">10.1016/j.ajhg.2016.03.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26358778"">26358778</a>
 著者        Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS
 タイトル      CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
 雑誌        Hum Mol Genet 24:6485-91 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv357"">10.1093/hmg/ddv357</a>"
H01923,"小頭症・低身長・グルコース代謝異常
 上位グループ    小頭症症候群 [DS:H02132]",,,"Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation in tRNA methyltransferase gene TRMT10A has been identified. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms.",先天奇形,,"(MSSGM1) TRMT10A [HSA:93587] [KO:K15445]
 (MSSGM2) PPP1R15B [HSA:84919] [KO:K17558]",,,,,"Wolcott-Rallison syndrome (H00766) is also characterized by microcephaly, short stature, and early-onset diabetes mellitus.
 See also H00269 Primary microcephaly (MCPH).","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616033 616817","PMID:24204302
 著者        Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M
 タイトル      tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
 雑誌        PLoS Genet 9:e1003888 (2013)
 DOI:10.1371/journal.pgen.1003888
 PMID:26307080
 著者        Kernohan KD, Tetreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM
 タイトル      Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
 雑誌        Hum Mol Genet 24:6293-300 (2015)
 DOI:10.1093/hmg/ddv337","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01923"">H01923</a>","小頭症・低身長・グルコース代謝異常
 上位グループ    小頭症症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>]","Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation in tRNA methyltransferase gene TRMT10A has been identified. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms.",,"(MSSGM1) TRMT10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93587"">93587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15445"">K15445</a>]
 (MSSGM2) PPP1R15B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84919"">84919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17558"">K17558</a>]",,,,,"Wolcott-Rallison syndrome (H00766) is also characterized by microcephaly, short stature, and early-onset diabetes mellitus.
 See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00269"">H00269</a> Primary microcephaly (MCPH).","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616033"">616033</a> <a href=""https://www.omim.org/entry/616817"">616817</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24204302"">24204302</a>
 著者        Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M
 タイトル      tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
 雑誌        PLoS Genet 9:e1003888 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1003888"">10.1371/journal.pgen.1003888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26307080"">26307080</a>
 著者        Kernohan KD, Tetreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM
 タイトル      Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
 雑誌        Hum Mol Genet 24:6293-300 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv337"">10.1093/hmg/ddv337</a>"
H01924,"シデナム舞踏病;
 小舞踏病",,,"Sydenham chorea is a disabling pediatric hyperkinetic and neuropsychiatric disorder following streptococcal infection. Sydenham chorea occurs in approximately 10% of acute rheumatic fever and is one of its major manifestations. The disease may last for weeks or months, with a high risk of recurrence. The common features of rheumatic fever include sore throats due to streptococcal infections, rashes, pains in the limbs, and subcutaneous nodules, and this form of chorea typically presents, after varying intervals, with twitching of the mouth and limbs, shrugging of the shoulders, and clumsy gait. Those with this form of chorea are less likely to have severe cardiac or rheumatologic complications. The pathogenesis has been considered to be an autoantibody-mediated basal ganglia dysfunction. Anti-inflammatory treatments such as steroids, plasmapheresis and intravenous immunoglobulin treatment are effective.",免疫系疾患; 神経系疾患,,,,Group A beta-haemolytic streptococcal infections,,"デキサメタゾン [DR:D00292]
 デキサメタゾンリン酸エステルナトリウム [DR:D00975]
 ベタメタゾンリン酸エステルナトリウム [DR:D00972]
 トリアムシノロンアセトニド [DR:D00983]
 ヒドロコルチゾン [DR:D00088]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
 コルチゾン酢酸エステル [DR:D00973]
 トリアムシノロン [DR:D00385]
 ベタメタゾン [DR:D00244]
 プレドニゾロン [DR:D00472]
 メチルプレドニゾロン [DR:D00407]
 メチルプレドニゾロン酢酸エステル [DR:D00979]",See also H01424 Group A streptococcal pharyngitis.,"ICD-11: 1B42
 ICD-10: I02
 MeSH: D002819","PMID:18558468
 著者        Gordon N
 タイトル      Sydenham's chorea, and its complications affecting the nervous system.
 雑誌        Brain Dev 31:11-4 (2009)
 DOI:10.1016/j.braindev.2008.05.001
 PMID:24073196 (drug)
 著者        Ben-Pazi H, Stoner JA, Cunningham MW
 タイトル      Dopamine receptor autoantibodies correlate with symptoms in Sydenham's chorea.
 雑誌        PLoS One 8:e73516 (2013)
 DOI:10.1371/journal.pone.0073516
 PMID:15730904 (drug)
 著者        Barash J, Margalith D, Matitiau A
 タイトル      Corticosteroid treatment in patients with Sydenham's chorea.
 雑誌        Pediatr Neurol 32:205-7 (2005)
 DOI:10.1016/j.pediatrneurol.2004.09.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01924"">H01924</a>","シデナム舞踏病;
 小舞踏病","Sydenham chorea is a disabling pediatric hyperkinetic and neuropsychiatric disorder following streptococcal infection. Sydenham chorea occurs in approximately 10% of acute rheumatic fever and is one of its major manifestations. The disease may last for weeks or months, with a high risk of recurrence. The common features of rheumatic fever include sore throats due to streptococcal infections, rashes, pains in the limbs, and subcutaneous nodules, and this form of chorea typically presents, after varying intervals, with twitching of the mouth and limbs, shrugging of the shoulders, and clumsy gait. Those with this form of chorea are less likely to have severe cardiac or rheumatologic complications. The pathogenesis has been considered to be an autoantibody-mediated basal ganglia dysfunction. Anti-inflammatory treatments such as steroids, plasmapheresis and intravenous immunoglobulin treatment are effective.",,,,Group A beta-haemolytic streptococcal infections,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 デキサメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00975"">D00975</a>]
 ベタメタゾンリン酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00972"">D00972</a>]
 トリアムシノロンアセトニド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00983"">D00983</a>]
 ヒドロコルチゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00088"">D00088</a>]
 ヒドロコルチゾンコハク酸エステルナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00978"">D00978</a>]
 コルチゾン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00973"">D00973</a>]
 トリアムシノロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00385"">D00385</a>]
 ベタメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00244"">D00244</a>]
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]
 メチルプレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00407"">D00407</a>]
 メチルプレドニゾロン酢酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00979"">D00979</a>]","See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01424"">H01424</a> Group A streptococcal pharyngitis.","ICD-11: 1B42
 ICD-10: I02
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002819"">D002819</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18558468"">18558468</a>
 著者        Gordon N
 タイトル      Sydenham's chorea, and its complications affecting the nervous system.
 雑誌        Brain Dev 31:11-4 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.braindev.2008.05.001"">10.1016/j.braindev.2008.05.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24073196"">24073196</a> (drug)
 著者        Ben-Pazi H, Stoner JA, Cunningham MW
 タイトル      Dopamine receptor autoantibodies correlate with symptoms in Sydenham's chorea.
 雑誌        PLoS One 8:e73516 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0073516"">10.1371/journal.pone.0073516</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15730904"">15730904</a> (drug)
 著者        Barash J, Margalith D, Matitiau A
 タイトル      Corticosteroid treatment in patients with Sydenham's chorea.
 雑誌        Pediatr Neurol 32:205-7 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.pediatrneurol.2004.09.012"">10.1016/j.pediatrneurol.2004.09.012</a>"
H01925,一過性乳児亜鉛欠乏症,,,"Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. The main initial symptoms of zinc deficiency are dermatitis, diarrhea, alopecia, and loss of appetite. Currently, at least two zinc transporters from separate protein families are now known to be involved in the genetics of zinc deficiency. One is SLC39A4/ZIP4, which mutations can cause acrodermatitis enteropathica (AEZ) [DS:H00212] with autosomal recessive inheritance. The other one is SLC30A2/ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause TNZD with symptoms similar to AE but with autosomal dominant inheritance. The two diseases can be distinguished in affected infants. AE is fatal if zinc is not supplied to the infant after weaning, whereas TNZD is a genetic defect of the mother limiting the supply of zinc in the milk, and therefore the infant usually will obtain enough zinc once weaned. Furthermore, the mothers' blood zinc levels are normal, and zinc supplementation to the mother's diet fails to improve the zinc levels in the breast milk.",先天性代謝異常症,,SLC30A2 [HSA:7780] [KO:K14689],,,,,,"ICD-11: 5B5K.2
 ICD-10: E60
 OMIM: 608118","PMID:7192074
 著者        Aggett PJ, Atherton DJ, More J, Davey J, Delves HT, Harries JT
 タイトル      Symptomatic zinc deficiency in a breast-fed preterm infant.
 雑誌        Arch Dis Child 55:547-50 (1980)
 DOI:10.1136/adc.55.7.547
 PMID:28665435
 著者        Golan Y, Kambe T, Assaraf YG
 タイトル      The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
 雑誌        Metallomics 9:1352-1366 (2017)
 DOI:10.1039/c7mt00162b
 PMID:25468189
 著者        Kasana S, Din J, Maret W
 タイトル      Genetic causes and gene-nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.
 雑誌        J Trace Elem Med Biol 29:47-62 (2015)
 DOI:10.1016/j.jtemb.2014.10.003
 PMID:22733820
 著者        Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG
 タイトル      A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
 雑誌        J Biol Chem 287:29348-61 (2012)
 DOI:10.1074/jbc.M112.368159
 PMID:17065149
 著者        Chowanadisai W, Lonnerdal B, Kelleher SL
 タイトル      Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.
 雑誌        J Biol Chem 281:39699-707 (2006)
 DOI:10.1074/jbc.M605821200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01925"">H01925</a>",一過性乳児亜鉛欠乏症,"Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. The main initial symptoms of zinc deficiency are dermatitis, diarrhea, alopecia, and loss of appetite. Currently, at least two zinc transporters from separate protein families are now known to be involved in the genetics of zinc deficiency. One is SLC39A4/ZIP4, which mutations can cause acrodermatitis enteropathica (AEZ) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00212"">H00212</a>] with autosomal recessive inheritance. The other one is SLC30A2/ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause TNZD with symptoms similar to AE but with autosomal dominant inheritance. The two diseases can be distinguished in affected infants. AE is fatal if zinc is not supplied to the infant after weaning, whereas TNZD is a genetic defect of the mother limiting the supply of zinc in the milk, and therefore the infant usually will obtain enough zinc once weaned. Furthermore, the mothers' blood zinc levels are normal, and zinc supplementation to the mother's diet fails to improve the zinc levels in the breast milk.",,"SLC30A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7780"">7780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14689"">K14689</a>]",,,,,,"ICD-11: 5B5K.2
 ICD-10: E60
 OMIM: <a href=""https://www.omim.org/entry/608118"">608118</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7192074"">7192074</a>
 著者        Aggett PJ, Atherton DJ, More J, Davey J, Delves HT, Harries JT
 タイトル      Symptomatic zinc deficiency in a breast-fed preterm infant.
 雑誌        Arch Dis Child 55:547-50 (1980)
 DOI:<a href=""https://doi.org/10.1136/adc.55.7.547"">10.1136/adc.55.7.547</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28665435"">28665435</a>
 著者        Golan Y, Kambe T, Assaraf YG
 タイトル      The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
 雑誌        Metallomics 9:1352-1366 (2017)
 DOI:<a href=""https://doi.org/10.1039/c7mt00162b"">10.1039/c7mt00162b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25468189"">25468189</a>
 著者        Kasana S, Din J, Maret W
 タイトル      Genetic causes and gene-nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.
 雑誌        J Trace Elem Med Biol 29:47-62 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jtemb.2014.10.003"">10.1016/j.jtemb.2014.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22733820"">22733820</a>
 著者        Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG
 タイトル      A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
 雑誌        J Biol Chem 287:29348-61 (2012)
 DOI:<a href=""https://doi.org/10.1074/jbc.M112.368159"">10.1074/jbc.M112.368159</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17065149"">17065149</a>
 著者        Chowanadisai W, Lonnerdal B, Kelleher SL
 タイトル      Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.
 雑誌        J Biol Chem 281:39699-707 (2006)
 DOI:<a href=""https://doi.org/10.1074/jbc.M605821200"">10.1074/jbc.M605821200</a>"
H01926,心室中隔欠損症,,,"Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital heart disease (CHD) is divided into more than 30 subtypes based on the cardiac or vascular abnormalities, of which VSD, atrial septal defect (ASD) [DS:H00546], tetralogy of Fallot (TOF) [DS:H00549], and Holt-Oram syndrome (HOS) [DS:H00433] are clinically the most common. VSDs can exist in isolation, can be complicated by additional intracardiac lesions, or can be part of more complex combinations, such as TOF, double outlet right ventricle [DS:H00918], or functionally univentricular hearts [DS:H01787]. Congenital VSDs arise from perturbations of cardiac development during embryogenesis and both environmental and genetic risk factors have been implicated in VSDs. Growing evidence highlights the key role of several transcription factors, including GATA4, in septogenesis.",心臓病,,"(VSD1) GATA4 [HSA:2626] [KO:K09183]
 (VSD2) CITED2 [HSA:10370] [KO:K21361]
 (VSD3) NKX2-5 [HSA:1482] [KO:K09345]",,"environmental teratogens
 maternal smoking
 maternal exposure to isotretinoin, thalidomide, or anti-seizure medications",,,,"ICD-11: LA88.4
 ICD-10: Q21.0
 MeSH: D006345
 OMIM: 614429 614431 614432","PMID:25523232
 著者        Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ
 タイトル      Ventricular septal defect.
 雑誌        Orphanet J Rare Dis 9:144 (2014)
 DOI:10.1186/s13023-014-0144-2
 PMID:27426723
 著者        Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N
 タイトル      Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
 雑誌        Clin Genet 91:349-354 (2017)
 DOI:10.1111/cge.12835
 PMID:21637914 (GATA4)
 著者        Wang J, Fang M, Liu XY, Xin YF, Liu ZM, Chen XZ, Wang XZ, Fang WY, Liu X, Yang YQ
 タイトル      A novel GATA4 mutation responsible for congenital ventricular septal defects.
 雑誌        Int J Mol Med 28:557-64 (2011)
 DOI:10.3892/ijmm.2011.715
 PMID:21110066 (GATA4 NKX2-5)
 著者        Peng T, Wang L, Zhou SF, Li X
 タイトル      Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
 雑誌        Genetica 138:1231-40 (2010)
 DOI:10.1007/s10709-010-9522-4
 PMID:16287139 (CITED2)
 著者        Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S
 タイトル      Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
 雑誌        Hum Mutat 26:575-82 (2005)
 DOI:10.1002/humu.20262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01926"">H01926</a>",心室中隔欠損症,"Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital heart disease (CHD) is divided into more than 30 subtypes based on the cardiac or vascular abnormalities, of which VSD, atrial septal defect (ASD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00546],"">H00546],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tetralogy"">tetralogy</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Fallot"">Fallot</a> (TOF) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00549],"">H00549],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Holt-Oram"">Holt-Oram</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome"">syndrome</a> (HOS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00433"">H00433</a>] are clinically the most common. VSDs can exist in isolation, can be complicated by additional intracardiac lesions, or can be part of more complex combinations, such as TOF, double outlet right ventricle [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00918],"">H00918],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:functionally"">functionally</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:univentricular"">univentricular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hearts"">hearts</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01787]."">H01787].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Congenital"">Congenital</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:VSDs"">VSDs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:arise"">arise</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:perturbations"">perturbations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cardiac"">cardiac</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:development"">development</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:during"">during</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:embryogenesis"">embryogenesis</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:both"">both</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:environmental"">environmental</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:genetic"">genetic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:risk"">risk</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:factors"">factors</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:implicated"">implicated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:VSDs."">VSDs.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Growing"">Growing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:evidence"">evidence</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:highlights"">highlights</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:key"">key</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:role"">role</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:several"">several</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:transcription"">transcription</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:factors,"">factors,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:including"">including</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:GATA4,"">GATA4,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:septogenesis."">septogenesis.</a>",,"(VSD1) GATA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2626"">2626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09183"">K09183</a>]
 (VSD2) CITED2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10370"">10370</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21361"">K21361</a>]
 (VSD3) NKX2-5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1482"">1482</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09345"">K09345</a>]",,"environmental teratogens
 maternal smoking
 maternal exposure to isotretinoin, thalidomide, or anti-seizure medications",,,,"ICD-11: LA88.4
 ICD-10: Q21.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006345"">D006345</a>
 OMIM: <a href=""https://www.omim.org/entry/614429"">614429</a> <a href=""https://www.omim.org/entry/614431"">614431</a> <a href=""https://www.omim.org/entry/614432"">614432</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25523232"">25523232</a>
 著者        Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ
 タイトル      Ventricular septal defect.
 雑誌        Orphanet J Rare Dis 9:144 (2014)
 DOI:<a href=""https://doi.org/10.1186/s13023-014-0144-2"">10.1186/s13023-014-0144-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27426723"">27426723</a>
 著者        Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N
 タイトル      Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
 雑誌        Clin Genet 91:349-354 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12835"">10.1111/cge.12835</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21637914"">21637914</a> (GATA4)
 著者        Wang J, Fang M, Liu XY, Xin YF, Liu ZM, Chen XZ, Wang XZ, Fang WY, Liu X, Yang YQ
 タイトル      A novel GATA4 mutation responsible for congenital ventricular septal defects.
 雑誌        Int J Mol Med 28:557-64 (2011)
 DOI:<a href=""https://doi.org/10.3892/ijmm.2011.715"">10.3892/ijmm.2011.715</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21110066"">21110066</a> (GATA4 <a href=""https://pubmed.ncbi.nlm.nih.gov/NKX2-5)"">NKX2-5)</a>
 著者        Peng T, Wang L, Zhou SF, Li X
 タイトル      Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
 雑誌        Genetica 138:1231-40 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10709-010-9522-4"">10.1007/s10709-010-9522-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16287139"">16287139</a> (CITED2)
 著者        Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S
 タイトル      Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
 雑誌        Hum Mutat 26:575-82 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20262"">10.1002/humu.20262</a>"
H01927,Van der Woude 症候群,,,"Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. Clinical manifestation includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic variants in IRF6. Etiologic IRF6 variants account for over 70% of cases of VWS. The treatment of VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts.",先天性形態異常,,"(VWS1) IRF6 [HSA:3664] [KO:K10154]
 (VWS2) GRHL3 [HSA:57822] [KO:K09275]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q38.0
 MeSH: C536528
 OMIM: 119300 606713","PMID:14994878
 著者        Rizos M, Spyropoulos MN
 タイトル      Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
 雑誌        Eur J Orthod 26:17-24 (2004)
 DOI:10.1093/ejo/26.1.17
 PMID:25050184
 著者        Deshmukh PK, Deshmukh K, Mangalgi A, Patil S, Hugar D, Kodangal SF
 タイトル      Van der woude syndrome with short review of the literature.
 雑誌        Case Rep Dent 2014:871460 (2014)
 DOI:10.1155/2014/871460
 PMID:12219090 (IRF6)
 著者        Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC
 タイトル      Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
 雑誌        Nat Genet 32:285-9 (2002)
 DOI:10.1038/ng985
 PMID:24360809 (GRHL3)
 著者        Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC
 タイトル      Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
 雑誌        Am J Hum Genet 94:23-32 (2014)
 DOI:10.1016/j.ajhg.2013.11.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01927"">H01927</a>",Van der Woude 症候群,"Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. Clinical manifestation includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic variants in IRF6. Etiologic IRF6 variants account for over 70% of cases of VWS. The treatment of VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts.",,"(VWS1) IRF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3664"">3664</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10154"">K10154</a>]
 (VWS2) GRHL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57822"">57822</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09275"">K09275</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q38.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536528"">C536528</a>
 OMIM: <a href=""https://www.omim.org/entry/119300"">119300</a> <a href=""https://www.omim.org/entry/606713"">606713</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14994878"">14994878</a>
 著者        Rizos M, Spyropoulos MN
 タイトル      Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
 雑誌        Eur J Orthod 26:17-24 (2004)
 DOI:<a href=""https://doi.org/10.1093/ejo/26.1.17"">10.1093/ejo/26.1.17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25050184"">25050184</a>
 著者        Deshmukh PK, Deshmukh K, Mangalgi A, Patil S, Hugar D, Kodangal SF
 タイトル      Van der woude syndrome with short review of the literature.
 雑誌        Case Rep Dent 2014:871460 (2014)
 DOI:<a href=""https://doi.org/10.1155/2014/871460"">10.1155/2014/871460</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12219090"">12219090</a> (IRF6)
 著者        Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC
 タイトル      Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
 雑誌        Nat Genet 32:285-9 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng985"">10.1038/ng985</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24360809"">24360809</a> (GRHL3)
 著者        Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC
 タイトル      Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
 雑誌        Am J Hum Genet 94:23-32 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.009"">10.1016/j.ajhg.2013.11.009</a>"
H01928,Smith-Kingsmore 症候群,,,"Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.",先天奇形,,MTOR [HSA:2475] [KO:K07203],,,,,,OMIM: 616638,"PMID:28892148
 著者        Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares M, Del Pozo A, Ibanez K, Silla JC, Barroso E, Ruiz Perez VL, Martinez-Glez V, Lapunzina P
 タイトル      mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
 雑誌        Clin Genet 93:762-775 (2018)
 DOI:10.1111/cge.13135
 PMID:27753196
 著者        Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B
 タイトル      Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G&gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
 雑誌        Am J Med Genet A 173:264-267 (2017)
 DOI:10.1002/ajmg.a.37999
 PMID:27830187
 著者        Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmuller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S
 タイトル      Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
 雑誌        Neurol Genet 2:e118 (2016)
 DOI:10.1212/NXG.0000000000000118
 PMID:25851998
 著者        Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J
 タイトル      A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
 雑誌        Am J Med Genet A 167:1659-67 (2015)
 DOI:10.1002/ajmg.a.37070","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01928"">H01928</a>",Smith-Kingsmore 症候群,"Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.",,"MTOR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2475"">2475</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07203"">K07203</a>]",,,,,,"OMIM: <a href=""https://www.omim.org/entry/616638"">616638</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28892148"">28892148</a>
 著者        Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares M, Del Pozo A, Ibanez K, Silla JC, Barroso E, Ruiz Perez VL, Martinez-Glez V, Lapunzina P
 タイトル      mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
 雑誌        Clin Genet 93:762-775 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13135"">10.1111/cge.13135</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27753196"">27753196</a>
 著者        Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B
 タイトル      Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G&gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
 雑誌        Am J Med Genet A 173:264-267 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37999"">10.1002/ajmg.a.37999</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27830187"">27830187</a>
 著者        Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmuller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S
 タイトル      Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
 雑誌        Neurol Genet 2:e118 (2016)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000118"">10.1212/NXG.0000000000000118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25851998"">25851998</a>
 著者        Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J
 タイトル      A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
 雑誌        Am J Med Genet A 167:1659-67 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37070"">10.1002/ajmg.a.37070</a>"
H01929,"2,4-ジエノイル CoA レダクターゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. A causal mutation in NADK2, that encodes the mitochondrial NAD kinase, has been revealed.",先天性代謝異常; ミトコンドリア病,,NADK2 [HSA:133686] [KO:K00858],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C565624
 OMIM: 616034","PMID:24847004 (gene. marker)
 著者        Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ
 タイトル      Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
 雑誌        Hum Mol Genet 23:5009-16 (2014)
 DOI:10.1093/hmg/ddu218
 PMID:2332510
 著者        Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, Nada M, Schulz H, McVie R
 タイトル      2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.
 雑誌        J Clin Invest 85:1703-7 (1990)
 DOI:10.1172/JCI114624","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01929"">H01929</a>","2,4-ジエノイル CoA レダクターゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. A causal mutation in NADK2, that encodes the mitochondrial NAD kinase, has been revealed.",,"NADK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:133686"">133686</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00858"">K00858</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565624"">C565624</a>
 OMIM: <a href=""https://www.omim.org/entry/616034"">616034</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24847004"">24847004</a> (gene. <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ
 タイトル      Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
 雑誌        Hum Mol Genet 23:5009-16 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu218"">10.1093/hmg/ddu218</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2332510"">2332510</a>
 著者        Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, Nada M, Schulz H, McVie R
 タイトル      2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.
 雑誌        J Clin Invest 85:1703-7 (1990)
 DOI:<a href=""https://doi.org/10.1172/JCI114624"">10.1172/JCI114624</a>"
H01930,Au-Kline 症候群,,,"Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and skeletal/connective tissue abnormalities. Facial dysmorphism and multiple congenital anomalies overlap with Kabuki syndrome.",先天奇形,,HNRNPK [HSA:3190] [KO:K12886],,,,,See also H00570 Kabuki syndrome.,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 616580","PMID:26954065
 著者        Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U
 タイトル      A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
 雑誌        Clin Genet 90:258-62 (2016)
 DOI:10.1111/cge.12773
 PMID:26173930
 著者        Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD
 タイトル      GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective  tissue abnormalities caused by de novo variants in HNRNPK.
 雑誌        Hum Mutat 36:1009-1014 (2015)
 DOI:10.1002/humu.22837","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01930"">H01930</a>",Au-Kline 症候群,"Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and skeletal/connective tissue abnormalities. Facial dysmorphism and multiple congenital anomalies overlap with Kabuki syndrome.",,"HNRNPK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3190"">3190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12886"">K12886</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00570"">H00570</a> Kabuki syndrome.","ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/616580"">616580</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26954065"">26954065</a>
 著者        Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U
 タイトル      A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
 雑誌        Clin Genet 90:258-62 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12773"">10.1111/cge.12773</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26173930"">26173930</a>
 著者        Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD
 タイトル      GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective  tissue abnormalities caused by de novo variants in HNRNPK.
 雑誌        Hum Mutat 36:1009-1014 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22837"">10.1002/humu.22837</a>"
H01931,Bartsocas-Papas 症候群,,,"Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more severe phenotype than that associated with the autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or neonatal lethality, although, in the latter case, survival into childhood and beyond has been reported. It has been shown that recessive mutations in RIPK4 cause LPPS.",先天奇形,,RIPK4 [HSA:54101] [KO:K08848],,,,,,"ICD-11: LD26.4Y
 ICD-10: Q87.2
 MeSH: C564874
 OMIM: 263650","PMID:4339984
 著者        Bartsocas CS, Papas CV
 タイトル      Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.
 雑誌        J Med Genet 9:222-6 (1972)
 DOI:10.1136/jmg.9.2.222
 PMID:22197489
 著者        Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA
 タイトル      Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
 雑誌        Am J Hum Genet 90:76-85 (2012)
 DOI:10.1016/j.ajhg.2011.11.014
 PMID:28803895
 著者        Hammond NL, Dixon J, Dixon MJ
 タイトル      Periderm: Life-cycle and function during orofacial and epidermal development.
 雑誌        Semin Cell Dev Biol S1084-9521(17)30377-4 (2017)
 DOI:10.1016/j.semcdb.2017.08.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01931"">H01931</a>",Bartsocas-Papas 症候群,"Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more severe phenotype than that associated with the autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or neonatal lethality, although, in the latter case, survival into childhood and beyond has been reported. It has been shown that recessive mutations in RIPK4 cause LPPS.",,"RIPK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54101"">54101</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08848"">K08848</a>]",,,,,,"ICD-11: LD26.4Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564874"">C564874</a>
 OMIM: <a href=""https://www.omim.org/entry/263650"">263650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4339984"">4339984</a>
 著者        Bartsocas CS, Papas CV
 タイトル      Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.
 雑誌        J Med Genet 9:222-6 (1972)
 DOI:<a href=""https://doi.org/10.1136/jmg.9.2.222"">10.1136/jmg.9.2.222</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22197489"">22197489</a>
 著者        Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA
 タイトル      Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
 雑誌        Am J Hum Genet 90:76-85 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.014"">10.1016/j.ajhg.2011.11.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28803895"">28803895</a>
 著者        Hammond NL, Dixon J, Dixon MJ
 タイトル      Periderm: Life-cycle and function during orofacial and epidermal development.
 雑誌        Semin Cell Dev Biol S1084-9521(17)30377-4 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.semcdb.2017.08.021"">10.1016/j.semcdb.2017.08.021</a>"
H01932,無眼瞼・巨口症症候群,,,"Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.",先天奇形,,TWIST2 [HSA:117581] [KO:K09069],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C535557
 OMIM: 200110","PMID:15103726
 著者        Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B
 タイトル      Ablepharon-macrostomia syndrome in a 46-year-old woman.
 雑誌        Am J Med Genet A 127A:96-8 (2004)
 DOI:10.1002/ajmg.a.20658
 PMID:26119818
 著者        Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
 タイトル      Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
 雑誌        Am J Hum Genet 97:99-110 (2015)
 DOI:10.1016/j.ajhg.2015.05.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01932"">H01932</a>",無眼瞼・巨口症症候群,"Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.",,"TWIST2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117581"">117581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535557"">C535557</a>
 OMIM: <a href=""https://www.omim.org/entry/200110"">200110</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15103726"">15103726</a>
 著者        Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B
 タイトル      Ablepharon-macrostomia syndrome in a 46-year-old woman.
 雑誌        Am J Med Genet A 127A:96-8 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20658"">10.1002/ajmg.a.20658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26119818"">26119818</a>
 著者        Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
 タイトル      Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
 雑誌        Am J Hum Genet 97:99-110 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.017"">10.1016/j.ajhg.2015.05.017</a>"
H01933,汗孔角化症,,,"Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, a column of tightly fitted parakeratotic cells. According to the number, size, and distribution of the lesions the following clinical forms of PK have been described; classic porokeratosis of Mibelli (PM), disseminated superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis palmaris et plantaris disseminata (PPPD), and linear porokeratosis (LP).",先天奇形,,"(POROK1) PMVK [HSA:10654] [KO:K13273]
 (POROK3) MVK [HSA:4598] [KO:K00869]
 (POROK7) MVD [HSA:4597] [KO:K01597]
 (POROK8) SLC17A9 [HSA:63910] [KO:K12303]
 (POROK9) FDPS [HSA:2224] [KO:K00787]",,,,,,"ICD-11: ED52
 ICD-10: Q82.8
 MeSH: D017499
 OMIM: 175800 175900 614714 616063 616631","PMID:21929548
 著者        Sertznig P, von Felbert V, Megahed M
 タイトル      Porokeratosis: present concepts.
 雑誌        J Eur Acad Dermatol Venereol 26:404-12 (2012)
 DOI:10.1111/j.1468-3083.2011.04275.x
 PMID:26202976
 著者        Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z
 タイトル      Genomic variations of the mevalonate pathway in porokeratosis.
 雑誌        Elife 4:e06322 (2015)
 DOI:10.7554/eLife.06322
 PMID:22983302
 著者        Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ
 タイトル      Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
 雑誌        Nat Genet 44:1156-60 (2012)
 DOI:10.1038/ng.2409
 PMID:25180256
 著者        Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X
 タイトル      Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
 雑誌        J Med Genet 51:699-704 (2014)
 DOI:10.1136/jmedgenet-2014-102486","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01933"">H01933</a>",汗孔角化症,"Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, a column of tightly fitted parakeratotic cells. According to the number, size, and distribution of the lesions the following clinical forms of PK have been described; classic porokeratosis of Mibelli (PM), disseminated superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis palmaris et plantaris disseminata (PPPD), and linear porokeratosis (LP).",,"(POROK1) PMVK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10654"">10654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13273"">K13273</a>]
 (POROK3) MVK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4598"">4598</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00869"">K00869</a>]
 (POROK7) MVD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4597"">4597</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01597"">K01597</a>]
 (POROK8) SLC17A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63910"">63910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12303"">K12303</a>]
 (POROK9) FDPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2224"">2224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00787"">K00787</a>]",,,,,,"ICD-11: ED52
 ICD-10: Q82.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017499"">D017499</a>
 OMIM: <a href=""https://www.omim.org/entry/175800"">175800</a> <a href=""https://www.omim.org/entry/175900"">175900</a> <a href=""https://www.omim.org/entry/614714"">614714</a> <a href=""https://www.omim.org/entry/616063"">616063</a> <a href=""https://www.omim.org/entry/616631"">616631</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929548"">21929548</a>
 著者        Sertznig P, von Felbert V, Megahed M
 タイトル      Porokeratosis: present concepts.
 雑誌        J Eur Acad Dermatol Venereol 26:404-12 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1468-3083.2011.04275.x"">10.1111/j.1468-3083.2011.04275.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26202976"">26202976</a>
 著者        Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z
 タイトル      Genomic variations of the mevalonate pathway in porokeratosis.
 雑誌        Elife 4:e06322 (2015)
 DOI:<a href=""https://doi.org/10.7554/eLife.06322"">10.7554/eLife.06322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22983302"">22983302</a>
 著者        Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ
 タイトル      Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
 雑誌        Nat Genet 44:1156-60 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2409"">10.1038/ng.2409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25180256"">25180256</a>
 著者        Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X
 タイトル      Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
 雑誌        J Med Genet 51:699-704 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102486"">10.1136/jmedgenet-2014-102486</a>"
H01934,Barber-Say 症候群,,,"Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.",先天奇形,,TWIST2 [HSA:117581] [KO:K09069],,,,,,"ICD-11: LD27.3
 ICD-10: Q87.0
 MeSH: C537908
 OMIM: 209885","PMID:26119818
 著者        Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
 タイトル      Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
 雑誌        Am J Hum Genet 97:99-110 (2015)
 DOI:10.1016/j.ajhg.2015.05.017
 PMID:19760652
 著者        Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O
 タイトル      Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
 雑誌        Am J Med Genet A 149A:2236-40 (2009)
 DOI:10.1002/ajmg.a.32993","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01934"">H01934</a>",Barber-Say 症候群,"Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.",,"TWIST2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117581"">117581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]",,,,,,"ICD-11: LD27.3
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537908"">C537908</a>
 OMIM: <a href=""https://www.omim.org/entry/209885"">209885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26119818"">26119818</a>
 著者        Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
 タイトル      Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
 雑誌        Am J Hum Genet 97:99-110 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.05.017"">10.1016/j.ajhg.2015.05.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19760652"">19760652</a>
 著者        Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O
 タイトル      Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
 雑誌        Am J Med Genet A 149A:2236-40 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32993"">10.1002/ajmg.a.32993</a>"
H01935,家族性高胆汁性貧血,,,"Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.",先天代謝異常症; 血液疾患,,"(FHCA1) EPHX1 [HSA:2052] [KO:K01253]
 (FHCA1) TJP2 [HSA:9414] [KO:K06098]
 (FHCA1) BAAT [HSA:570] [KO:K00659]
 (FHCA2) SLC10A1 [HSA:6554] [KO:K14341]",,,,,,"ICD-11: DA96.02
 MeSH: C564336
 OMIM: 607748 619256","PMID:12878321 (EPHX1)
 著者        Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D
 タイトル      Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia.
 雑誌        Biochim Biophys Acta 1638:208-16 (2003)
 DOI:10.1016/S0925-4439(03)00085-1
 PMID:12704386 (TJP2 BAAT)
 著者        Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN
 タイトル      Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
 雑誌        Nat Genet 34:91-6 (2003)
 DOI:10.1038/ng1147
 PMID:29290974 (SLC10A1)
 著者        Qiu JW, Deng M, Cheng Y, Atif RM, Lin WX, Guo L, Li H, Song YZ
 タイトル      Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.
 雑誌        Oncotarget 8:106598-106607 (2017)
 DOI:10.18632/oncotarget.22503","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01935"">H01935</a>",家族性高胆汁性貧血,"Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.",,"(FHCA1) EPHX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2052"">2052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01253"">K01253</a>]
 (FHCA1) TJP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9414"">9414</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06098"">K06098</a>]
 (FHCA1) BAAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:570"">570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00659"">K00659</a>]
 (FHCA2) SLC10A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6554"">6554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14341"">K14341</a>]",,,,,,"ICD-11: DA96.02
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564336"">C564336</a>
 OMIM: <a href=""https://www.omim.org/entry/607748"">607748</a> <a href=""https://www.omim.org/entry/619256"">619256</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12878321"">12878321</a> (EPHX1)
 著者        Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D
 タイトル      Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia.
 雑誌        Biochim Biophys Acta 1638:208-16 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0925-4439(03)00085-1"">10.1016/S0925-4439(03)00085-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12704386"">12704386</a> (TJP2 <a href=""https://pubmed.ncbi.nlm.nih.gov/BAAT)"">BAAT)</a>
 著者        Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN
 タイトル      Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
 雑誌        Nat Genet 34:91-6 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1147"">10.1038/ng1147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29290974"">29290974</a> (SLC10A1)
 著者        Qiu JW, Deng M, Cheng Y, Atif RM, Lin WX, Guo L, Li H, Song YZ
 タイトル      Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.
 雑誌        Oncotarget 8:106598-106607 (2017)
 DOI:<a href=""https://doi.org/10.18632/oncotarget.22503"">10.18632/oncotarget.22503</a>"
H01936,高ビリベルジン血症,,,"Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances, the concentrations of biliverdin are much lower than those of bilirubin. However, in rare cases, impairment of the biliverdin/bilirubin pathway has been reported to result in green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.",代謝疾患; 血液疾患,,BLVRA [HSA:644] [KO:K00214],,,,,,"ICD-11: 5C58.0Y
 ICD-10: K76.8
 OMIM: 614156","PMID:19580635
 著者        Gafvels M, Holmstrom P, Somell A, Sjovall F, Svensson JO, Stahle L, Broome U, Stal P
 タイトル      A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice).
 雑誌        Liver Int 29:1116-24 (2009)
 DOI:10.1111/j.1478-3231.2009.02029.x
 PMID:21278388
 著者        Nytofte NS, Serrano MA, Monte MJ, Gonzalez-Sanchez E, Tumer Z, Ladefoged K, Briz O, Marin JJ
 タイトル      A homozygous nonsense mutation (c.214C-&gt;A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.
 雑誌        J Med Genet 48:219-25 (2011)
 DOI:10.1136/jmg.2009.074567","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01936"">H01936</a>",高ビリベルジン血症,"Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances, the concentrations of biliverdin are much lower than those of bilirubin. However, in rare cases, impairment of the biliverdin/bilirubin pathway has been reported to result in green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.",,"BLVRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:644"">644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00214"">K00214</a>]",,,,,,"ICD-11: 5C58.0Y
 ICD-10: K76.8
 OMIM: <a href=""https://www.omim.org/entry/614156"">614156</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19580635"">19580635</a>
 著者        Gafvels M, Holmstrom P, Somell A, Sjovall F, Svensson JO, Stahle L, Broome U, Stal P
 タイトル      A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice).
 雑誌        Liver Int 29:1116-24 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1478-3231.2009.02029.x"">10.1111/j.1478-3231.2009.02029.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21278388"">21278388</a>
 著者        Nytofte NS, Serrano MA, Monte MJ, Gonzalez-Sanchez E, Tumer Z, Ladefoged K, Briz O, Marin JJ
 タイトル      A homozygous nonsense mutation (c.214C-&gt;A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.
 雑誌        J Med Genet 48:219-25 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.074567"">10.1136/jmg.2009.074567</a>"
H01937,"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly",,,"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst.",先天奇形,,CEP55 [HSA:55165] [KO:K16456],,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.3
 MeSH: C565507
 OMIM: 236500","PMID:28264986
 著者        Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE
 タイトル      A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
 雑誌        J Med Genet 54:490-501 (2017)
 DOI:10.1136/jmedgenet-2016-104296
 PMID:28295209
 著者        Bondeson ML, Ericson K, Gudmundsson S, Ameur A, Ponten F, Wesstrom J, Frykholm C, Wilbe M
 タイトル      A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
 雑誌        Clin Genet 92:510-516 (2017)
 DOI:10.1111/cge.13012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01937"">H01937</a>","Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly","Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst.",,"CEP55 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55165"">55165</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16456"">K16456</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565507"">C565507</a>
 OMIM: <a href=""https://www.omim.org/entry/236500"">236500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28264986"">28264986</a>
 著者        Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE
 タイトル      A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
 雑誌        J Med Genet 54:490-501 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104296"">10.1136/jmedgenet-2016-104296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28295209"">28295209</a>
 著者        Bondeson ML, Ericson K, Gudmundsson S, Ameur A, Ponten F, Wesstrom J, Frykholm C, Wilbe M
 タイトル      A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
 雑誌        Clin Genet 92:510-516 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.13012"">10.1111/cge.13012</a>"
H01938,ジストニアを伴う高マンガン血症,,,"Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity.",血液疾患,,"(HMNDYT1) SLC30A10 [HSA:55532] [KO:K14697]
 (HMNDYT2) SLC39A14 [HSA:23516] [KO:K14720]",,,,,,"ICD-11: 5C64.Y
 MeSH: C548016
 OMIM: 613280 617013","PMID:28789954
 著者        Mukhopadhyay S
 タイトル      Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.
 雑誌        Neurotoxicology S0161-813X(17)30161-4 (2017)
 DOI:10.1016/j.neuro.2017.07.030
 PMID:27231142
 著者        Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW
 タイトル      Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
 雑誌        Nat Commun 7:11601 (2016)
 DOI:10.1038/ncomms11601
 PMID:22341972
 著者        Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB
 タイトル      Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
 雑誌        Am J Hum Genet 90:457-66 (2012)
 DOI:10.1016/j.ajhg.2012.01.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01938"">H01938</a>",ジストニアを伴う高マンガン血症,"Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity.",,"(HMNDYT1) SLC30A10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55532"">55532</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14697"">K14697</a>]
 (HMNDYT2) SLC39A14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23516"">23516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14720"">K14720</a>]",,,,,,"ICD-11: 5C64.Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C548016"">C548016</a>
 OMIM: <a href=""https://www.omim.org/entry/613280"">613280</a> <a href=""https://www.omim.org/entry/617013"">617013</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28789954"">28789954</a>
 著者        Mukhopadhyay S
 タイトル      Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.
 雑誌        Neurotoxicology S0161-813X(17)30161-4 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.neuro.2017.07.030"">10.1016/j.neuro.2017.07.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27231142"">27231142</a>
 著者        Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW
 タイトル      Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
 雑誌        Nat Commun 7:11601 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms11601"">10.1038/ncomms11601</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22341972"">22341972</a>
 著者        Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB
 タイトル      Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
 雑誌        Am J Hum Genet 90:457-66 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.01.018"">10.1016/j.ajhg.2012.01.018</a>"
H01939,"糖原病 I 型;
 フォン・ギールケ病
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]",,,"Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this disorder, Ia, Ib, Ic, and Id. GSD-Ia is caused by mutations in the G6Pase gene. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. GSD-Ib, Ic, and Id result from deficient activity of the phosphate/ pyrophosphate transporter of G6Pase complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia.",先天性代謝疾患,nt06017  Glycogen metabolism,"(GSD Ia) G6PC [HSA:2538] [KO:K01084]
 (GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D005953
 OMIM: 232200 232220 232240","PMID:10748407
 著者        Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K
 タイトル      Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
 雑誌        Am J Med Genet 91:107-12 (2000)
 DOI:10.1002/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y
 PMID:9463334
 著者        Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY
 タイトル      The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
 雑誌        Am J Hum Genet 62:400-5 (1998)
 DOI:10.1086/301727
 PMID:9428641
 著者        Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E
 タイトル      Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
 雑誌        FEBS Lett 419:235-8 (1997)
 DOI:10.1016/S0014-5793(97)01463-4
 PMID:9598717
 著者        Fenske CD, Jeffery S, Weber JL, Houlston RS, Leonard JV, Lee PJ
 タイトル      Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
 雑誌        J Med Genet 35:269-72 (1998)
 DOI:10.1136/jmg.35.4.269","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01939"">H01939</a>","糖原病 I 型;
 フォン・ギールケ病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]","Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this disorder, Ia, Ib, Ic, and Id. GSD-Ia is caused by mutations in the G6Pase gene. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. GSD-Ib, Ic, and Id result from deficient activity of the phosphate/ pyrophosphate transporter of G6Pase complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","(GSD Ia) G6PC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2538"">2538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01084"">K01084</a>]
 (GSD Ib/Ic/Id) SLC37A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2542"">2542</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08171"">K08171</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005953"">D005953</a>
 OMIM: <a href=""https://www.omim.org/entry/232200"">232200</a> <a href=""https://www.omim.org/entry/232220"">232220</a> <a href=""https://www.omim.org/entry/232240"">232240</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10748407"">10748407</a>
 著者        Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K
 タイトル      Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
 雑誌        Am J Med Genet 91:107-12 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(20000313)91:"">10.1002/(SICI)1096-8628(20000313)91:</a><a href=""https://doi.org/2<107:"">2<107:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG5>3.0.CO;2-Y"">AID-AJMG5>3.0.CO;2-Y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9463334"">9463334</a>
 著者        Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY
 タイトル      The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
 雑誌        Am J Hum Genet 62:400-5 (1998)
 DOI:<a href=""https://doi.org/10.1086/301727"">10.1086/301727</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9428641"">9428641</a>
 著者        Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E
 タイトル      Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
 雑誌        FEBS Lett 419:235-8 (1997)
 DOI:<a href=""https://doi.org/10.1016/S0014-5793(97)01463-4"">10.1016/S0014-5793(97)01463-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9598717"">9598717</a>
 著者        Fenske CD, Jeffery S, Weber JL, Houlston RS, Leonard JV, Lee PJ
 タイトル      Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
 雑誌        J Med Genet 35:269-72 (1998)
 DOI:<a href=""https://doi.org/10.1136/jmg.35.4.269"">10.1136/jmg.35.4.269</a>"
H01940,"糖原病 II型;
 ポンペ病
 上位グループ    糖原病 [DS:H00069]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.",先天性代謝異常症,nt06017  Glycogen metabolism,GAA [HSA:2548] [KO:K12316],,,,"アルグルコシダーゼアルファ [DR:D03207]
 アバルグルコシダーゼアルファ [DR:D11744]",,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006009
 OMIM: 232300","PMID:20225018
 著者        Pascual SI
 タイトル      Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
 雑誌        Adv Exp Med Biol 652:39-46 (2009)
 DOI:10.1007/978-90-481-2813-6_4
 PMID:16702877
 著者        Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS
 タイトル      Pompe disease diagnosis and management guideline.
 雑誌        Genet Med 8:267-88 (2006)
 DOI:10.1097/01.gim.0000218152.87434.f3
 PMID:15668445
 著者        Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG
 タイトル      Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
 雑誌        Neurology 64:368-70 (2005)
 DOI:10.1212/01.WNL.0000149528.95362.20","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01940"">H01940</a>","糖原病 II型;
 ポンペ病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","GAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2548"">2548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12316"">K12316</a>]",,,,"アルグルコシダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03207"">D03207</a>]
 アバルグルコシダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11744"">D11744</a>]",,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006009"">D006009</a>
 OMIM: <a href=""https://www.omim.org/entry/232300"">232300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20225018"">20225018</a>
 著者        Pascual SI
 タイトル      Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
 雑誌        Adv Exp Med Biol 652:39-46 (2009)
 DOI:<a href=""https://doi.org/10.1007/978-90-481-2813-6_4"">10.1007/978-90-481-2813-6_4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16702877"">16702877</a>
 著者        Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS
 タイトル      Pompe disease diagnosis and management guideline.
 雑誌        Genet Med 8:267-88 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.gim.0000218152.87434.f3"">10.1097/01.gim.0000218152.87434.f3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15668445"">15668445</a>
 著者        Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG
 タイトル      Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
 雑誌        Neurology 64:368-70 (2005)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000149528.95362.20"">10.1212/01.WNL.0000149528.95362.20</a>"
H01941,"糖原病 III 型;
 コーリ病;
 フォーブズ病
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb).",先天性代謝異常症,nt06017  Glycogen metabolism,AGL [HSA:178] [KO:K01196],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006010
 OMIM: 232400","PMID:20648714
 著者        Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS
 タイトル      Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type  III.
 雑誌        Genet Med 12:424-30 (2010)
 DOI:10.1097/GIM.0b013e3181d94eaa","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01941"">H01941</a>","糖原病 III 型;
 コーリ病;
 フォーブズ病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb).","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","AGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:178"">178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01196"">K01196</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006010"">D006010</a>
 OMIM: <a href=""https://www.omim.org/entry/232400"">232400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20648714"">20648714</a>
 著者        Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS
 タイトル      Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type  III.
 雑誌        Genet Med 12:424-30 (2010)
 DOI:<a href=""https://doi.org/10.1097/GIM.0b013e3181d94eaa"">10.1097/GIM.0b013e3181d94eaa</a>"
H01942,"糖原病 IV 型;
 アンダーセン病
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.",先天性代謝異常症,nt06017  Glycogen metabolism,GBE1 [HSA:2632] [KO:K00700],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006011
 OMIM: 232500","PMID:10384399
 著者        Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I
 タイトル      Glycogen storage disease type IV presenting as hydrops fetalis.
 雑誌        J Inherit Metab Dis 22:330-2 (1999)
 DOI:10.1023/A:1005568507267
 PMID:15452297
 著者        Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
 タイトル      Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
 雑誌        Neurology 63:1053-8 (2004)
 DOI:10.1212/01.WNL.0000138429.11433.0D","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01942"">H01942</a>","糖原病 IV 型;
 アンダーセン病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","GBE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2632"">2632</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00700"">K00700</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006011"">D006011</a>
 OMIM: <a href=""https://www.omim.org/entry/232500"">232500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10384399"">10384399</a>
 著者        Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I
 タイトル      Glycogen storage disease type IV presenting as hydrops fetalis.
 雑誌        J Inherit Metab Dis 22:330-2 (1999)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005568507267"">1005568507267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15452297"">15452297</a>
 著者        Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
 タイトル      Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
 雑誌        Neurology 63:1053-8 (2004)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000138429.11433.0D"">10.1212/01.WNL.0000138429.11433.0D</a>"
H01943,"糖原病 V 型;
 マッカードル病
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria.",先天性代謝異常症,nt06017  Glycogen metabolism,PYGM [HSA:5837] [KO:K00688],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006012
 OMIM: 232600","PMID:16924035 (gene marker)
 著者        Andersen ST, Duno M, Schwartz M, Vissing J
 タイトル      Do carriers of PYGM mutations have symptoms of McArdle disease?
 雑誌        Neurology 67:716-8 (2006)
 DOI:10.1212/01.wnl.0000230154.79933.d7
 PMID:17915571
 著者        Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C
 タイトル      McArdle disease: molecular genetic update.
 雑誌        Acta Myol 26:53-7 (2007)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01943"">H01943</a>","糖原病 V 型;
 マッカードル病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","PYGM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5837"">5837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006012"">D006012</a>
 OMIM: <a href=""https://www.omim.org/entry/232600"">232600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16924035"">16924035</a> (gene <a href=""https://pubmed.ncbi.nlm.nih.gov/marker)"">marker)</a>
 著者        Andersen ST, Duno M, Schwartz M, Vissing J
 タイトル      Do carriers of PYGM mutations have symptoms of McArdle disease?
 雑誌        Neurology 67:716-8 (2006)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000230154.79933.d7"">10.1212/01.wnl.0000230154.79933.d7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17915571"">17915571</a>
 著者        Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C
 タイトル      McArdle disease: molecular genetic update.
 雑誌        Acta Myol 26:53-7 (2007)"
H01944,"糖原病 VI 型;
 ハース病
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]",,,"Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen phosphorylase. It manifests in infants, primarily with hepatomegaly and growth retardation.",先天性代謝異常症,nt06017  Glycogen metabolism,PYGL [HSA:5836] [KO:K00688],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006013
 OMIM: 232700","PMID:9529348
 著者        Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW
 タイトル      Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
 雑誌        Am J Hum Genet 62:785-91 (1998)
 DOI:10.1086/301790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01944"">H01944</a>","糖原病 VI 型;
 ハース病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]","Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen phosphorylase. It manifests in infants, primarily with hepatomegaly and growth retardation.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","PYGL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5836"">5836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00688"">K00688</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006013"">D006013</a>
 OMIM: <a href=""https://www.omim.org/entry/232700"">232700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9529348"">9529348</a>
 著者        Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW
 タイトル      Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
 雑誌        Am J Hum Genet 62:785-91 (1998)
 DOI:<a href=""https://doi.org/10.1086/301790"">10.1086/301790</a>"
H01945,"糖原病 VII 型;
 垂井病
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.",先天性代謝異常症,nt06017  Glycogen metabolism,PFKM [HSA:5213] [KO:K00850],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006014
 OMIM: 232800","PMID:7603526
 著者        Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S
 タイトル      A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
 雑誌        Muscle Nerve Suppl 3:S39-44 (1995)
 DOI:10.1002/mus.880181410
 PMID:8889589
 著者        Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y
 タイトル      Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
 雑誌        Hum Mutat 8:273-5 (1996)
 DOI:10.1002/(SICI)1098-1004(1996)8:3&amp;lt;273::AID-HUMU13&amp;gt;3.0.CO;2-#","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01945"">H01945</a>","糖原病 VII 型;
 垂井病
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","PFKM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5213"">5213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00850"">K00850</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006014"">D006014</a>
 OMIM: <a href=""https://www.omim.org/entry/232800"">232800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7603526"">7603526</a>
 著者        Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S
 タイトル      A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
 雑誌        Muscle Nerve Suppl 3:S39-44 (1995)
 DOI:<a href=""https://doi.org/10.1002/mus.880181410"">10.1002/mus.880181410</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8889589"">8889589</a>
 著者        Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y
 タイトル      Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
 雑誌        Hum Mutat 8:273-5 (1996)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(1996)8:"">10.1002/(SICI)1098-1004(1996)8:</a><a href=""https://doi.org/3&amp;lt;273:"">3&amp;lt;273:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU13&amp;gt;3.0.CO;2-#"">AID-HUMU13&amp;gt;3.0.CO;2-#</a>"
H01946,"糖原病 XI 型;
 乳酸デヒドロゲナーゼ A 欠損症
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase.",先天性代謝異常症,nt06017  Glycogen metabolism,LDHA [HSA:3939] [KO:K00016],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C538133
 OMIM: 612933","PMID:2334430
 著者        Maekawa M, Sudo K, Kanno T, Li SS
 タイトル      Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
 雑誌        Biochem Biophys Res Commun 168:677-82 (1990)
 DOI:10.1016/0006-291X(90)92374-9
 PMID:3383424 (marker)
 著者        Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K
 タイトル      Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy.
 雑誌        Clin Chim Acta 173:89-98 (1988)
 DOI:10.1016/0009-8981(88)90359-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01946"">H01946</a>","糖原病 XI 型;
 乳酸デヒドロゲナーゼ A 欠損症
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","LDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3939"">3939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00016"">K00016</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538133"">C538133</a>
 OMIM: <a href=""https://www.omim.org/entry/612933"">612933</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2334430"">2334430</a>
 著者        Maekawa M, Sudo K, Kanno T, Li SS
 タイトル      Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
 雑誌        Biochem Biophys Res Commun 168:677-82 (1990)
 DOI:<a href=""https://doi.org/10.1016/0006-291X(90)92374-9"">10.1016/0006-291X(90)92374-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3383424"">3383424</a> (marker)
 著者        Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K
 タイトル      Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy.
 雑誌        Clin Chim Acta 173:89-98 (1988)
 DOI:<a href=""https://doi.org/10.1016/0009-8981(88)90359-2"">10.1016/0009-8981(88)90359-2</a>"
H01947,"ファンコニ・ビッケル症候群
 上位グループ    糖原病 [DS:H00069]",,,"Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical clinical signs are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, rickets, and markedly stunted growth.",先天性代謝異常症,nt06017  Glycogen metabolism,SLC2A2 [HSA:6514] [KO:K07593],,,,,Use of the term glycogenosis type XI is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase.,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D005198
 OMIM: 227810","PMID:11810292
 著者        Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J
 タイトル      The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
 雑誌        Hum Genet 110:21-9 (2002)
 DOI:10.1007/s00439-001-0638-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01947"">H01947</a>","ファンコニ・ビッケル症候群
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]","Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical clinical signs are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, rickets, and markedly stunted growth.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","SLC2A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6514"">6514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07593"">K07593</a>]",,,,,Use of the term glycogenosis type XI is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase.,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005198"">D005198</a>
 OMIM: <a href=""https://www.omim.org/entry/227810"">227810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11810292"">11810292</a>
 著者        Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J
 タイトル      The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
 雑誌        Hum Genet 110:21-9 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-001-0638-6"">10.1007/s00439-001-0638-6</a>"
H01948,"糖原病 IX 型;
 ホスホリラーゼキナーゼ欠損症
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four copies each of alpha, beta, gamma, and delta (calmodulin) subunits. In liver, the alpha, beta, and gamma subunits are encoded by the PHKA2 gene, the PHKB gene, and PHKG2 gene respectively. Mutation within these genes has been shown to result in GSD type IX. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. GSD IXd, also known as X-linked muscle glycogenosis, is caused by mutation in the PHKA1 gene, which encodes the alpha subunit of muscle phosphorylase kinase. The typical clinical signs of GSD IXd are exercise intolerance, often combined with cramps, myalgia, weakness or myoglobinuria.",先天性代謝異常症,,"(GSD IXa) PHKA2 [HSA:5256] [KO:K07190]
 (GSD IXb) PHKB [HSA:5257] [KO:K07190]
 (GSD IXc) PHKG2 [HSA:5261] [KO:K00871]
 (GSD IXd) PHKA1 [HSA:5255] [KO:K07190]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: D006015 C580130 C564485
 OMIM: 306000 261750 613027 300559","PMID:17689125
 著者        Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M
 タイトル      Glycogen storage disease type IX: High variability in clinical phenotype.
 雑誌        Mol Genet Metab 92:88-99 (2007)
 DOI:10.1016/j.ymgme.2007.06.007
 PMID:24389071
 著者        Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS
 タイトル      Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
 雑誌        Mol Genet Metab 111:309-313 (2014)
 DOI:10.1016/j.ymgme.2013.12.008
 PMID:8733134
 著者        Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW
 タイトル      Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
 雑誌        Hum Mol Genet 5:653-8 (1996)
 DOI:10.1093/hmg/5.5.653
 PMID:9215682
 著者        Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW
 タイトル      Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
 雑誌        Hum Mol Genet 6:1109-15 (1997)
 DOI:10.1093/hmg/6.7.1109
 PMID:9384616
 著者        Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW
 タイトル      Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
 雑誌        Hum Mol Genet 7:149-54 (1998)
 DOI:10.1093/hmg/7.1.149
 PMID:7874115
 著者        Wehner M, Clemens PR, Engel AG, Kilimann MW
 タイトル      Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
 雑誌        Hum Mol Genet 3:1983-7 (1994)
 DOI:10.1093/hmg/3.11.1983","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01948"">H01948</a>","糖原病 IX 型;
 ホスホリラーゼキナーゼ欠損症
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four copies each of alpha, beta, gamma, and delta (calmodulin) subunits. In liver, the alpha, beta, and gamma subunits are encoded by the PHKA2 gene, the PHKB gene, and PHKG2 gene respectively. Mutation within these genes has been shown to result in GSD type IX. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. GSD IXd, also known as X-linked muscle glycogenosis, is caused by mutation in the PHKA1 gene, which encodes the alpha subunit of muscle phosphorylase kinase. The typical clinical signs of GSD IXd are exercise intolerance, often combined with cramps, myalgia, weakness or myoglobinuria.",,"(GSD IXa) PHKA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5256"">5256</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD IXb) PHKB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5257"">5257</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]
 (GSD IXc) PHKG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5261"">5261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00871"">K00871</a>]
 (GSD IXd) PHKA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5255"">5255</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07190"">K07190</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006015"">D006015</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580130"">C580130</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564485"">C564485</a>
 OMIM: <a href=""https://www.omim.org/entry/306000"">306000</a> <a href=""https://www.omim.org/entry/261750"">261750</a> <a href=""https://www.omim.org/entry/613027"">613027</a> <a href=""https://www.omim.org/entry/300559"">300559</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17689125"">17689125</a>
 著者        Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M
 タイトル      Glycogen storage disease type IX: High variability in clinical phenotype.
 雑誌        Mol Genet Metab 92:88-99 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2007.06.007"">10.1016/j.ymgme.2007.06.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24389071"">24389071</a>
 著者        Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS
 タイトル      Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
 雑誌        Mol Genet Metab 111:309-313 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2013.12.008"">10.1016/j.ymgme.2013.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8733134"">8733134</a>
 著者        Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW
 タイトル      Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
 雑誌        Hum Mol Genet 5:653-8 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.5.653"">10.1093/hmg/5.5.653</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9215682"">9215682</a>
 著者        Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW
 タイトル      Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
 雑誌        Hum Mol Genet 6:1109-15 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.7.1109"">10.1093/hmg/6.7.1109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9384616"">9384616</a>
 著者        Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW
 タイトル      Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
 雑誌        Hum Mol Genet 7:149-54 (1998)
 DOI:<a href=""https://doi.org/10.1093/hmg/7.1.149"">10.1093/hmg/7.1.149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7874115"">7874115</a>
 著者        Wehner M, Clemens PR, Engel AG, Kilimann MW
 タイトル      Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
 雑誌        Hum Mol Genet 3:1983-7 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.11.1983"">10.1093/hmg/3.11.1983</a>"
H01949,"糖原病 0b 型;
 筋グリコーゲン合成酵素欠損症
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, which encodes muscle glycogen synthase. The role of muscle and heart glycogen is to provide critical energy during bursts of activity and sustained muscle work. It has been reported that patients showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising.",先天性代謝異常症,nt06017  Glycogen metabolism,GYS1 [HSA:2997] [KO:K00693],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C566917
 OMIM: 611556","PMID:19699667
 著者        Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH
 タイトル      Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
 雑誌        Mol Genet Metab 98:378-82 (2009)
 DOI:10.1016/j.ymgme.2009.07.012
 PMID:17928598
 著者        Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
 タイトル      Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
 雑誌        N Engl J Med 357:1507-14 (2007)
 DOI:10.1056/NEJMoa066691","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01949"">H01949</a>","糖原病 0b 型;
 筋グリコーゲン合成酵素欠損症
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, which encodes muscle glycogen synthase. The role of muscle and heart glycogen is to provide critical energy during bursts of activity and sustained muscle work. It has been reported that patients showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","GYS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2997"">2997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566917"">C566917</a>
 OMIM: <a href=""https://www.omim.org/entry/611556"">611556</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19699667"">19699667</a>
 著者        Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH
 タイトル      Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
 雑誌        Mol Genet Metab 98:378-82 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2009.07.012"">10.1016/j.ymgme.2009.07.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17928598"">17928598</a>
 著者        Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
 タイトル      Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
 雑誌        N Engl J Med 357:1507-14 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa066691"">10.1056/NEJMoa066691</a>"
H01950,"糖原病 0a 型;
 肝グリコーゲン合成酵素欠損症
 上位グループ    糖原病 [DS:H00069]
 肝型糖原病 [DS:H01760]",,,"Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia.",先天性代謝異常症,nt06017  Glycogen metabolism,GYS2 [HSA:2998] [KO:K00693],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C565485
 OMIM: 240600","PMID:17928598
 著者        Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
 タイトル      Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
 雑誌        N Engl J Med 357:1507-14 (2007)
 DOI:10.1056/NEJMoa066691
 PMID:141912
 著者        Aynsley-Green A, Williamson DH, Gitzelmann R
 タイトル      Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.
 雑誌        Arch Dis Child 52:573-9 (1977)
 DOI:10.1136/adc.52.7.573","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01950"">H01950</a>","糖原病 0a 型;
 肝グリコーゲン合成酵素欠損症
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 肝型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01760"">H01760</a>]","Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","GYS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2998"">2998</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00693"">K00693</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565485"">C565485</a>
 OMIM: <a href=""https://www.omim.org/entry/240600"">240600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17928598"">17928598</a>
 著者        Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
 タイトル      Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
 雑誌        N Engl J Med 357:1507-14 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa066691"">10.1056/NEJMoa066691</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/141912"">141912</a>
 著者        Aynsley-Green A, Williamson DH, Gitzelmann R
 タイトル      Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.
 雑誌        Arch Dis Child 52:573-9 (1977)
 DOI:<a href=""https://doi.org/10.1136/adc.52.7.573"">10.1136/adc.52.7.573</a>"
H01951,"糖原病 X 型
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentation is exercise intolerance, cramps, and myoglobinuria.",先天性代謝異常症,nt06017  Glycogen metabolism,PGAM2 [HSA:5224] [KO:K01834],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C536176
 OMIM: 261670","PMID:8447317
 著者        Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
 タイトル      The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
 雑誌        Am J Hum Genet 52:472-7 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01951"">H01951</a>","糖原病 X 型
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentation is exercise intolerance, cramps, and myoglobinuria.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","PGAM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5224"">5224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01834"">K01834</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536176"">C536176</a>
 OMIM: <a href=""https://www.omim.org/entry/261670"">261670</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8447317"">8447317</a>
 著者        Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
 タイトル      The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
 雑誌        Am J Hum Genet 52:472-7 (1993)"
H01952,"糖原病 XII 型
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.",先天性代謝異常症,nt06017  Glycogen metabolism,ALDOA [HSA:226] [KO:K01623],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C562718
 OMIM: 611881","PMID:8598869
 著者        Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
 タイトル      Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
 雑誌        N Engl J Med 334:1100-4 (1996)
 DOI:10.1056/NEJM199604253341705","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01952"">H01952</a>","糖原病 XII 型
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","ALDOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:226"">226</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01623"">K01623</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562718"">C562718</a>
 OMIM: <a href=""https://www.omim.org/entry/611881"">611881</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8598869"">8598869</a>
 著者        Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
 タイトル      Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
 雑誌        N Engl J Med 334:1100-4 (1996)
 DOI:<a href=""https://doi.org/10.1056/NEJM199604253341705"">10.1056/NEJM199604253341705</a>"
H01953,"糖原病 XIII 型
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentation is exercise intolerance and myalgias.",先天性代謝異常症,nt06017  Glycogen metabolism,ENO3 [HSA:2027] [KO:K01689],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C567861
 OMIM: 612932","PMID:11506403
 著者        Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
 タイトル      Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
 雑誌        Ann Neurol 50:202-7 (2001)
 DOI:10.1002/ana.1095","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01953"">H01953</a>","糖原病 XIII 型
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentation is exercise intolerance and myalgias.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","ENO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2027"">2027</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01689"">K01689</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567861"">C567861</a>
 OMIM: <a href=""https://www.omim.org/entry/612932"">612932</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11506403"">11506403</a>
 著者        Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
 タイトル      Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
 雑誌        Ann Neurol 50:202-7 (2001)
 DOI:<a href=""https://doi.org/10.1002/ana.1095"">10.1002/ana.1095</a>"
H01954,"糖原病 XIV 型;
 先天性グリコシル化異常症 It 型
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the PGM1 gene, which encodes the phosphoglucomutase. The clinical manifestations include hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.",先天性代謝異常症,,PGM1 [HSA:5236] [KO:K01835],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C567859
 OMIM: 614921","PMID:19625727
 著者        Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
 タイトル      Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 361:425-7 (2009)
 DOI:10.1056/NEJMc0901158
 PMID:24499211
 著者        Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
 タイトル      Multiple phenotypes in phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 370:533-42 (2014)
 DOI:10.1056/NEJMoa1206605","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01954"">H01954</a>","糖原病 XIV 型;
 先天性グリコシル化異常症 It 型
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the PGM1 gene, which encodes the phosphoglucomutase. The clinical manifestations include hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.",,"PGM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5236"">5236</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01835"">K01835</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567859"">C567859</a>
 OMIM: <a href=""https://www.omim.org/entry/614921"">614921</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19625727"">19625727</a>
 著者        Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
 タイトル      Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 361:425-7 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMc0901158"">10.1056/NEJMc0901158</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24499211"">24499211</a>
 著者        Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
 タイトル      Multiple phenotypes in phosphoglucomutase 1 deficiency.
 雑誌        N Engl J Med 370:533-42 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1206605"">10.1056/NEJMoa1206605</a>"
H01955,"糖原病 XV 型
 上位グループ    糖原病 [DS:H00069]
 筋型糖原病 [DS:H01762]",,,"Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy.",先天性代謝異常症,nt06017  Glycogen metabolism,GYG1 [HSA:2992] [KO:K00750],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 OMIM: 613507","PMID:20357282
 著者        Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
 タイトル      Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
 雑誌        N Engl J Med 362:1203-10 (2010)
 DOI:10.1056/NEJMoa0900661","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01955"">H01955</a>","糖原病 XV 型
 上位グループ    糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00069"">H00069</a>]
 筋型糖原病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01762"">H01762</a>]","Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy.","<a href=""https://www.kegg.jp/network/nt06017"">nt06017</a>  Glycogen metabolism","GYG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2992"">2992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00750"">K00750</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 OMIM: <a href=""https://www.omim.org/entry/613507"">613507</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20357282"">20357282</a>
 著者        Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
 タイトル      Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
 雑誌        N Engl J Med 362:1203-10 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0900661"">10.1056/NEJMoa0900661</a>"
H01956,心臓の糖原病,,,"Glycogen storage disease of heart is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized by fatal infantile cardiomyopathy, often associated with apparent phosphorylase b kinase deficiency.",先天性代謝異常症,,PRKAG2 [HSA:51422] [KO:K07200],,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: C564888
 OMIM: 261740","PMID:15877279
 著者        Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
 タイトル      Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
 雑誌        Am J Hum Genet 76:1034-49 (2005)
 DOI:10.1086/430840
 PMID:17667862
 著者        Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S
 タイトル      Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
 雑誌        Pediatr Res 62:499-504 (2007)
 DOI:10.1203/PDR.0b013e3181462b86","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01956"">H01956</a>",心臓の糖原病,"Glycogen storage disease of heart is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized by fatal infantile cardiomyopathy, often associated with apparent phosphorylase b kinase deficiency.",,"PRKAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51422"">51422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07200"">K07200</a>]",,,,,,"ICD-11: 5C51.3
 ICD-10: E74.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564888"">C564888</a>
 OMIM: <a href=""https://www.omim.org/entry/261740"">261740</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15877279"">15877279</a>
 著者        Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
 タイトル      Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
 雑誌        Am J Hum Genet 76:1034-49 (2005)
 DOI:<a href=""https://doi.org/10.1086/430840"">10.1086/430840</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17667862"">17667862</a>
 著者        Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S
 タイトル      Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
 雑誌        Pediatr Res 62:499-504 (2007)
 DOI:<a href=""https://doi.org/10.1203/PDR.0b013e3181462b86"">10.1203/PDR.0b013e3181462b86</a>"
H01957,"福山型先天性筋ジストロフィー
 上位グループ    筋ジストロフィー・ジストログリカノパチー A型 [DS:H00120]
 先天性筋ジストロフィー [DS:H00590]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,"Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD is caused by mutations in the fukutin gene. Clinical manifestations include neonatal hypotonia, seizures, and delayed motor and speech development.",先天性代謝異常症,,FKTN [HSA:2218] [KO:K19872],,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: D058494
 OMIM: 253800","PMID:9690476
 著者        Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T
 タイトル      An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
 雑誌        Nature 394:388-92 (1998)
 DOI:10.1038/28653
 PMID:19842201
 著者        Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X
 タイトル      Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
 雑誌        Am J Med Genet A 149A:2403-8 (2009)
 DOI:10.1002/ajmg.a.33057","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01957"">H01957</a>","福山型先天性筋ジストロフィー
 上位グループ    筋ジストロフィー・ジストログリカノパチー A型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00120"">H00120</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]","Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD is caused by mutations in the fukutin gene. Clinical manifestations include neonatal hypotonia, seizures, and delayed motor and speech development.",,"FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058494"">D058494</a>
 OMIM: <a href=""https://www.omim.org/entry/253800"">253800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9690476"">9690476</a>
 著者        Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T
 タイトル      An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
 雑誌        Nature 394:388-92 (1998)
 DOI:<a href=""https://doi.org/10.1038/28653"">10.1038/28653</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19842201"">19842201</a>
 著者        Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X
 タイトル      Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
 雑誌        Am J Med Genet A 149A:2403-8 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33057"">10.1002/ajmg.a.33057</a>"
H01958,"メロシン欠損型先天性筋ジストロフィー
 上位グループ    先天性筋ジストロフィー [DS:H00590]",,,"Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe muscle weakness, hypotonia at birth, and high creatine kinase (CK) levels.",神経系疾患; 筋骨格疾患,,LAMA2 [HSA:3908] [KO:K05637],,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: C537384
 OMIM: 607855","PMID:10543397
 著者        D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F
 タイトル      Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
 雑誌        Hum Genet 105:308-13 (1999)
 DOI:10.1007/s004399900093
 PMID:16216942
 著者        Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M
 タイトル      LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
 雑誌        Arch Neurol 62:1582-6 (2005)
 DOI:10.1001/archneur.62.10.1582","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01958"">H01958</a>","メロシン欠損型先天性筋ジストロフィー
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe muscle weakness, hypotonia at birth, and high creatine kinase (CK) levels.",,"LAMA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3908"">3908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05637"">K05637</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537384"">C537384</a>
 OMIM: <a href=""https://www.omim.org/entry/607855"">607855</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10543397"">10543397</a>
 著者        D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F
 タイトル      Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
 雑誌        Hum Genet 105:308-13 (1999)
 DOI:<a href=""https://doi.org/10.1007/s004399900093"">10.1007/s004399900093</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16216942"">16216942</a>
 著者        Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M
 タイトル      LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
 雑誌        Arch Neurol 62:1582-6 (2005)
 DOI:<a href=""https://doi.org/10.1001/archneur.62.10.1582"">10.1001/archneur.62.10.1582</a>"
H01959,"筋ジストロフィー・ジストログリカノパチー C 型
 上位グループ    先天性筋ジストロフィー [DS:H00590]
 肢帯型筋ジストロフィー [DS:H00593]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,"Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. Muscular dystrophy-dystroglycanopathy type C (MDDGC) is the mildest clinical spectrum. It is late onset limb-girdle muscular dystrophy with no associated brain or eye involvement.",先天性代謝異常症,,"(MDDGC1) POMT1 [HSA:10585] [KO:K00728]
 (MDDGC2) POMT2 [HSA:29954] [KO:K00728]
 (MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
 (MDDGC4) FKTN [HSA:2218] [KO:K19872]
 (MDDGC5) FKRP [HSA:79147] [KO:K19873]
 (MDDGC7) ISPD [HSA:729920] [KO:K21031]
 (MDDGC9) DAG1 [HSA:1605] [KO:K06265]
 (MDDGC12) POMK [HSA:84197] [KO:K17547]
 (MDDGC14) GMPPB [HSA:29925] [KO:K00966]",,,,,,"ICD-11: 8C70.41
 ICD-10: G71.2
 MeSH: D049288
 OMIM: 609308 613158 613157 611588 607155 616052 613818 616094 615352","PMID:17878207
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:10.1093/brain/awm212
 PMID:15792865
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:10.1016/j.nmd.2005.01.013
 PMID:14678799
 著者        Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H
 タイトル      A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
 雑誌        Neuromuscul Disord 13:771-8 (2003)
 DOI:10.1016/S0960-8966(03)00161-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01959"">H01959</a>","筋ジストロフィー・ジストログリカノパチー C 型
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 肢帯型筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00593"">H00593</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]","Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. Muscular dystrophy-dystroglycanopathy type C (MDDGC) is the mildest clinical spectrum. It is late onset limb-girdle muscular dystrophy with no associated brain or eye involvement.",,"(MDDGC1) POMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10585"">10585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGC2) POMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29954"">29954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGC3) POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 (MDDGC4) FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 (MDDGC5) FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]
 (MDDGC7) ISPD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729920"">729920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21031"">K21031</a>]
 (MDDGC9) DAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1605"">1605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06265"">K06265</a>]
 (MDDGC12) POMK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84197"">84197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17547"">K17547</a>]
 (MDDGC14) GMPPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29925"">29925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>]",,,,,,"ICD-11: 8C70.41
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049288"">D049288</a>
 OMIM: <a href=""https://www.omim.org/entry/609308"">609308</a> <a href=""https://www.omim.org/entry/613158"">613158</a> <a href=""https://www.omim.org/entry/613157"">613157</a> <a href=""https://www.omim.org/entry/611588"">611588</a> <a href=""https://www.omim.org/entry/607155"">607155</a> <a href=""https://www.omim.org/entry/616052"">616052</a> <a href=""https://www.omim.org/entry/613818"">613818</a> <a href=""https://www.omim.org/entry/616094"">616094</a> <a href=""https://www.omim.org/entry/615352"">615352</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17878207"">17878207</a>
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm212"">10.1093/brain/awm212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15792865"">15792865</a>
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2005.01.013"">10.1016/j.nmd.2005.01.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14678799"">14678799</a>
 著者        Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H
 タイトル      A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
 雑誌        Neuromuscul Disord 13:771-8 (2003)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(03)00161-5"">10.1016/S0960-8966(03)00161-5</a>"
H01960,"筋ジストロフィー・ジストログリカノパチー B 型
 下位グループ    先天性筋ジストロフィー 1C 型 (MDC1C) [DS:H01961]
 先天性筋ジストロフィー 1D 型 (MDC1D) [DS:H01962]
 上位グループ    先天性筋ジストロフィー [DS:H00590]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,"Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. The most severe clinical spectrum (type A, H00120) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C, H01959) is with limb-girdle muscular dystrophy. Muscular dystrophy-dystroglycanopathy type B (MDDGB) is an intermediate phenotype between type A and C. MDDGB is characterized by early onset of muscle weakness, mental retardation, and mild brain anomalies.",先天性代謝異常症,,"(MDDGB1) POMT1 [HSA:10585] [KO:K00728]
 (MDDGB2) POMT2 [HSA:29954] [KO:K00728]
 (MDDGB3) POMGNT1 [HSA:55624] [KO:K09666]
 (MDDGB4) FKTN [HSA:2218] [KO:K19872]
 (MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873]
 (MDDGB6/MDC1D) LARGE [HSA:9215] [KO:K09668]
 (MDDGB14) GMPPB [HSA:29925] [KO:K00966]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: D058494
 OMIM: 613155 613156 613151 613152 606612 608840 615351","PMID:17878207
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:10.1093/brain/awm212
 PMID:15792865
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:10.1016/j.nmd.2005.01.013
 PMID:19901254
 著者        Messina S, Tortorella G, Concolino D, Spano M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E
 タイトル      Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
 雑誌        Neurology 73:1599-601 (2009)
 DOI:10.1212/WNL.0b013e3181c0d47a","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>","筋ジストロフィー・ジストログリカノパチー B 型
 下位グループ    先天性筋ジストロフィー 1C 型 (MDC1C) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01961"">H01961</a>]
 先天性筋ジストロフィー 1D 型 (MDC1D) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01962"">H01962</a>]
 上位グループ    先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]","Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. The most severe clinical spectrum (type A, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00120)"">H00120)</a> is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C, <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01959)"">H01959)</a> is with limb-girdle muscular dystrophy. Muscular dystrophy-dystroglycanopathy type B (MDDGB) is an intermediate phenotype between type A and C. MDDGB is characterized by early onset of muscle weakness, mental retardation, and mild brain anomalies.",,"(MDDGB1) POMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10585"">10585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGB2) POMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29954"">29954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 (MDDGB3) POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 (MDDGB4) FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 (MDDGB5/MDC1C) FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]
 (MDDGB6/MDC1D) LARGE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9215"">9215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09668"">K09668</a>]
 (MDDGB14) GMPPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29925"">29925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058494"">D058494</a>
 OMIM: <a href=""https://www.omim.org/entry/613155"">613155</a> <a href=""https://www.omim.org/entry/613156"">613156</a> <a href=""https://www.omim.org/entry/613151"">613151</a> <a href=""https://www.omim.org/entry/613152"">613152</a> <a href=""https://www.omim.org/entry/606612"">606612</a> <a href=""https://www.omim.org/entry/608840"">608840</a> <a href=""https://www.omim.org/entry/615351"">615351</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17878207"">17878207</a>
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm212"">10.1093/brain/awm212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15792865"">15792865</a>
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2005.01.013"">10.1016/j.nmd.2005.01.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19901254"">19901254</a>
 著者        Messina S, Tortorella G, Concolino D, Spano M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E
 タイトル      Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
 雑誌        Neurology 73:1599-601 (2009)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e3181c0d47a"">10.1212/WNL.0b013e3181c0d47a</a>"
H01961,"先天性筋ジストロフィー 1C 型
 上位グループ    筋ジストロフィー・ジストログリカノパチー B 型 [DS:H01960]
 先天性筋ジストロフィー [DS:H00590]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,"Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused by mutations in the FKRP gene. Clinical manifestations include inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.",先天性代謝異常症,,FKRP [HSA:79147] [KO:K19873],,,,,Elevation of serum creatine kinase,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: D058494
 OMIM: 606612","PMID:11592034
 著者        Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F
 タイトル      Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
 雑誌        Am J Hum Genet 69:1198-209 (2001)
 DOI:10.1086/324412
 PMID:12654965
 著者        Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F
 タイトル      FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
 雑誌        Neurology 60:988-92 (2003)
 DOI:10.1212/01.WNL.0000052996.14099.DC","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01961"">H01961</a>","先天性筋ジストロフィー 1C 型
 上位グループ    筋ジストロフィー・ジストログリカノパチー B 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]","Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused by mutations in the FKRP gene. Clinical manifestations include inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.",,"FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]",,,,,Elevation of serum creatine kinase,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058494"">D058494</a>
 OMIM: <a href=""https://www.omim.org/entry/606612"">606612</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11592034"">11592034</a>
 著者        Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F
 タイトル      Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
 雑誌        Am J Hum Genet 69:1198-209 (2001)
 DOI:<a href=""https://doi.org/10.1086/324412"">10.1086/324412</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12654965"">12654965</a>
 著者        Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F
 タイトル      FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
 雑誌        Neurology 60:988-92 (2003)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000052996.14099.DC"">10.1212/01.WNL.0000052996.14099.DC</a>"
H01962,"先天性筋ジストロフィー 1D 型
 上位グループ    筋ジストロフィー・ジストログリカノパチー B 型 [DS:H01960]
 先天性筋ジストロフィー [DS:H00590]
 筋ジストロフィー・ジストログリカノパチー [DS:H02307]",,,Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in LARGE gene.,先天性代謝異常症,,LARGE [HSA:9215] [KO:K09668],,,,,,"ICD-11: 8C70.41
 ICD-10: G71.2
 MeSH: D058494
 OMIM: 608840","PMID:12966029
 著者        Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F
 タイトル      Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
 雑誌        Hum Mol Genet 12:2853-61 (2003)
 DOI:10.1093/hmg/ddg307
 PMID:21248746
 著者        Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Megarbane A, Guicheney P
 タイトル      Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
 雑誌        Eur J Hum Genet 19:452-7 (2011)
 DOI:10.1038/ejhg.2010.212","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01962"">H01962</a>","先天性筋ジストロフィー 1D 型
 上位グループ    筋ジストロフィー・ジストログリカノパチー B 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]
 筋ジストロフィー・ジストログリカノパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>]",Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in LARGE gene.,,"LARGE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9215"">9215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09668"">K09668</a>]",,,,,,"ICD-11: 8C70.41
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058494"">D058494</a>
 OMIM: <a href=""https://www.omim.org/entry/608840"">608840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12966029"">12966029</a>
 著者        Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F
 タイトル      Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
 雑誌        Hum Mol Genet 12:2853-61 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg307"">10.1093/hmg/ddg307</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248746"">21248746</a>
 著者        Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Megarbane A, Guicheney P
 タイトル      Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
 雑誌        Eur J Hum Genet 19:452-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.212"">10.1038/ejhg.2010.212</a>"
H01963,"デュシェンヌ型筋ジストロフィー
 上位グループ    Xp21欠失症候群 [DS:H00552]
 ジストロフィン異常症 [DS:H00562]",,,"Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.",神経系疾患; 筋骨格疾患,,DMD [HSA:1756] [KO:K10366],,,,"ビルトラルセン [DR:D11528] (エクソン53スキッピングにより治療可能なジストロフィン遺伝子欠失)
 プレドニゾロン [DR:D00472]",,"ICD-11: 8C70.1
 ICD-10: G71.0
 MeSH: D020388
 OMIM: 310200","PMID:12668614
 著者        Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC
 タイトル      Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.
 雑誌        Hum Mol Genet 12:907-14 (2003)
 DOI:10.1093/hmg/ddg100
 PMID:23340516 (marker)
 著者        Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L
 タイトル      Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).
 雑誌        Eur J Hum Genet 21:1049-53 (2013)
 DOI:10.1038/ejhg.2012.301","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01963"">H01963</a>","デュシェンヌ型筋ジストロフィー
 上位グループ    Xp21欠失症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00552"">H00552</a>]
 ジストロフィン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00562"">H00562</a>]","Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.",,"DMD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1756"">1756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10366"">K10366</a>]",,,,"ビルトラルセン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11528"">D11528</a>] (エクソン53スキッピングにより治療可能なジストロフィン遺伝子欠失)
 プレドニゾロン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00472"">D00472</a>]",,"ICD-11: 8C70.1
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020388"">D020388</a>
 OMIM: <a href=""https://www.omim.org/entry/310200"">310200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12668614"">12668614</a>
 著者        Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC
 タイトル      Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.
 雑誌        Hum Mol Genet 12:907-14 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg100"">10.1093/hmg/ddg100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23340516"">23340516</a> (marker)
 著者        Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L
 タイトル      Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).
 雑誌        Eur J Hum Genet 21:1049-53 (2013)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2012.301"">10.1038/ejhg.2012.301</a>"
H01964,"ベッカー型筋ジストロフィー
 上位グループ    ジストロフィン異常症 [DS:H00562]",,,"Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the distribution of muscle wasting and weakness is closely similar to that in Duchenne muscular dystrophy [DS:H01963], but the course of the disease is more benign.",神経系疾患; 筋骨格疾患,,DMD [HSA:1756] [KO:K10366],,,,,,"ICD-11: 8C70.0
 ICD-10: G71.0
 MeSH: D020388
 OMIM: 300376","PMID:2063877
 著者        Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM
 タイトル      Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
 雑誌        Am J Hum Genet 49:54-67 (1991)
 PMID:11879882
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:10.1016/S0140-6736(02)07815-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01964"">H01964</a>","ベッカー型筋ジストロフィー
 上位グループ    ジストロフィン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00562"">H00562</a>]","Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the distribution of muscle wasting and weakness is closely similar to that in Duchenne muscular dystrophy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01963],"">H01963],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:course"">course</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease"">disease</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:more"">more</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:benign."">benign.</a>",,"DMD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1756"">1756</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10366"">K10366</a>]",,,,,,"ICD-11: 8C70.0
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020388"">D020388</a>
 OMIM: <a href=""https://www.omim.org/entry/300376"">300376</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2063877"">2063877</a>
 著者        Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM
 タイトル      Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
 雑誌        Am J Hum Genet 49:54-67 (1991)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11879882"">11879882</a>
 著者        Emery AE
 タイトル      The muscular dystrophies.
 雑誌        Lancet 359:687-95 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(02)07815-7"">10.1016/S0140-6736(02)07815-7</a>"
H01965,"三好型ミオパチー
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms is in young adulthood and often begins with the inability to toe walk. Miyoshi myopathy 1 (MM1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi myopathy 3 (MMD3).",神経系疾患; 筋骨格疾患,,"DYSF [HSA:8291] [KO:K18261]
 ANO5 [HSA:203859] [KO:K19480]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: C537480 C567646 C567645
 OMIM: 254130 613318 613319","PMID:10545047
 著者        Rowin J, Meriggioli MN, Cochran EJ, Sanders DB
 タイトル      Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy.
 雑誌        Neuromuscul Disord 9:417-20 (1999)
 DOI:10.1016/s0960-8966(99)00041-3
 PMID:9731526
 著者        Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
 タイトル      Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
 雑誌        Nat Genet 20:31-6 (1998)
 DOI:10.1038/1682
 PMID:25176504
 著者        Ten Dam L, van der Kooi AJ, Rovekamp F, Linssen WH, de Visser M
 タイトル      Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
 雑誌        Neuromuscul Disord 24:1097-102 (2014)
 DOI:10.1016/j.nmd.2014.07.004
 PMID:20096397
 著者        Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
 タイトル      Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
 雑誌        Am J Hum Genet 86:213-21 (2010)
 DOI:10.1016/j.ajhg.2009.12.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01965"">H01965</a>","三好型ミオパチー
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms is in young adulthood and often begins with the inability to toe walk. Miyoshi myopathy 1 (MM1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi myopathy 3 (MMD3).",,"DYSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8291"">8291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18261"">K18261</a>]
 ANO5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203859"">203859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19480"">K19480</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537480"">C537480</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567646"">C567646</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567645"">C567645</a>
 OMIM: <a href=""https://www.omim.org/entry/254130"">254130</a> <a href=""https://www.omim.org/entry/613318"">613318</a> <a href=""https://www.omim.org/entry/613319"">613319</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10545047"">10545047</a>
 著者        Rowin J, Meriggioli MN, Cochran EJ, Sanders DB
 タイトル      Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy.
 雑誌        Neuromuscul Disord 9:417-20 (1999)
 DOI:<a href=""https://doi.org/10.1016/s0960-8966(99)00041-3"">10.1016/s0960-8966(99)00041-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9731526"">9731526</a>
 著者        Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
 タイトル      Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
 雑誌        Nat Genet 20:31-6 (1998)
 DOI:<a href=""https://doi.org/10.1038/1682"">10.1038/1682</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25176504"">25176504</a>
 著者        Ten Dam L, van der Kooi AJ, Rovekamp F, Linssen WH, de Visser M
 タイトル      Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
 雑誌        Neuromuscul Disord 24:1097-102 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2014.07.004"">10.1016/j.nmd.2014.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20096397"">20096397</a>
 著者        Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
 タイトル      Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
 雑誌        Am J Hum Genet 86:213-21 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.12.013"">10.1016/j.ajhg.2009.12.013</a>"
H01966,"軟骨毛髪低形成症;
 骨幹端異形成症 McKusik 型
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]
 骨幹端異形成症 [DS:H00479]",,,"Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, anemia, an increased incidence of cancer, and congenital immunodeficiency. Mutations in the RMRP gene that codes for an RNA subunit of the RNase MRP complex are the cause of CHH.",リボソーム病,,RMRP [HSA:6023] [KO:K14576],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q78.8
 MeSH: C535916 C563574
 OMIM: 250250 250460","PMID:18280854
 著者        Bailly-Botuha C, Jaubert F, Taam RA, Galmiche L, Picard C, Bellon G, de Blic J
 タイトル      Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia.
 雑誌        J Pediatr 152:429-33 (2008)
 DOI:10.1016/j.jpeds.2007.10.010
 PMID:11940090
 著者        Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
 タイトル      RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
 雑誌        Clin Genet 61:146-51 (2002)
 DOI:10.1034/j.1399-0004.2002.610210.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01966"">H01966</a>","軟骨毛髪低形成症;
 骨幹端異形成症 McKusik 型
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 骨幹端異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00479"">H00479</a>]","Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, anemia, an increased incidence of cancer, and congenital immunodeficiency. Mutations in the RMRP gene that codes for an RNA subunit of the RNase MRP complex are the cause of CHH.",,"RMRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6023"">6023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14576"">K14576</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535916"">C535916</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563574"">C563574</a>
 OMIM: <a href=""https://www.omim.org/entry/250250"">250250</a> <a href=""https://www.omim.org/entry/250460"">250460</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18280854"">18280854</a>
 著者        Bailly-Botuha C, Jaubert F, Taam RA, Galmiche L, Picard C, Bellon G, de Blic J
 タイトル      Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia.
 雑誌        J Pediatr 152:429-33 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.jpeds.2007.10.010"">10.1016/j.jpeds.2007.10.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11940090"">11940090</a>
 著者        Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
 タイトル      RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
 雑誌        Clin Genet 61:146-51 (2002)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2002.610210.x"">10.1034/j.1399-0004.2002.610210.x</a>"
H01967,Anauxetic dysplasia,,,"Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex.",先天奇形,,"(ANXD1) RMRP [HSA:6023] [KO:K14576]
 (ANXD2) POP1 [HSA:10940] [KO:K01164]
 (ANXD3) NEPRO [HSA:25871]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C538256
 OMIM: 607095 617396 618853","PMID:11370632
 著者        Horn D, Rupprecht E, Kunze J, Spranger J
 タイトル      Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
 雑誌        J Med Genet 38:262-5 (2001)
 DOI:10.1136/jmg.38.4.262
 PMID:16252239
 著者        Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A
 タイトル      Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
 雑誌        Am J Hum Genet 77:795-806 (2005)
 DOI:10.1086/497708
 PMID:28067412
 著者        Barraza-Garcia J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchon-Martinez A, Sentchordi-Montane L, Duncan EL, Clark GR, Del Pozo A, Ibanez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE
 タイトル      Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
 雑誌        Clin Genet 92:91-98 (2017)
 DOI:10.1111/cge.12964
 PMID:31250547
 著者        Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
 タイトル      An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
 雑誌        Am J Med Genet A 179:1709-1717 (2019)
 DOI:10.1002/ajmg.a.61267","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01967"">H01967</a>",Anauxetic dysplasia,"Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex.",,"(ANXD1) RMRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6023"">6023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14576"">K14576</a>]
 (ANXD2) POP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10940"">10940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01164"">K01164</a>]
 (ANXD3) NEPRO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25871"">25871</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538256"">C538256</a>
 OMIM: <a href=""https://www.omim.org/entry/607095"">607095</a> <a href=""https://www.omim.org/entry/617396"">617396</a> <a href=""https://www.omim.org/entry/618853"">618853</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11370632"">11370632</a>
 著者        Horn D, Rupprecht E, Kunze J, Spranger J
 タイトル      Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
 雑誌        J Med Genet 38:262-5 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.4.262"">10.1136/jmg.38.4.262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16252239"">16252239</a>
 著者        Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A
 タイトル      Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
 雑誌        Am J Hum Genet 77:795-806 (2005)
 DOI:<a href=""https://doi.org/10.1086/497708"">10.1086/497708</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28067412"">28067412</a>
 著者        Barraza-Garcia J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchon-Martinez A, Sentchordi-Montane L, Duncan EL, Clark GR, Del Pozo A, Ibanez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE
 タイトル      Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
 雑誌        Clin Genet 92:91-98 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12964"">10.1111/cge.12964</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31250547"">31250547</a>
 著者        Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM
 タイトル      An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
 雑誌        Am J Med Genet A 179:1709-1717 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61267"">10.1002/ajmg.a.61267</a>"
H01968,"高 IgE 症候群;
 Job 症候群;
 Buckley 症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.",免疫系疾患,,"(HIES1) STAT3 [HSA:6774] [KO:K04692]
 (HIES2) DOCK8 [HSA:81704] [KO:K21852]
 (HIES3) ZNF341 [HSA:84905] [KO:K24852]
 (HIES4) IL6ST [HSA:3572] [KO:K05060]
 (HIES5) IL6R [HSA:3570] [KO:K05055]
 (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219]
 (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836]",,,,,,"ICD-11: 4A01.34
 ICD-10: D82.4
 MeSH: D007589
 OMIM: 147060 243700 618282 618523 611521 615816 618944","PMID:19717292
 著者        Minegishi Y
 タイトル      Hyper-IgE syndrome.
 雑誌        Curr Opin Immunol 21:487-92 (2009)
 DOI:10.1016/j.coi.2009.07.013
 PMID:28567072
 著者        Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH
 タイトル      Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.
 雑誌        J Res Med Sci 22:53 (2017)
 DOI:10.4103/jrms.JRMS_1050_16
 PMID:15661034
 著者        Grimbacher B, Holland SM, Puck JM
 タイトル      Hyper-IgE syndromes.
 雑誌        Immunol Rev 203:244-50 (2005)
 DOI:10.1111/j.0105-2896.2005.00228.x
 PMID:24589341
 著者        Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD
 タイトル      Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
 雑誌        J Allergy Clin Immunol 133:1400-9, 1409.e1-5 (2014)
 DOI:10.1016/j.jaci.2014.02.013
 PMID:19776401
 著者        Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC
 タイトル      Combined immunodeficiency associated with DOCK8 mutations.
 雑誌        N Engl J Med 361:2046-55 (2009)
 DOI:10.1056/NEJMoa0905506
 PMID:17088085
 著者        Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H
 タイトル      Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
 雑誌        Immunity 25:745-55 (2006)
 DOI:10.1016/j.immuni.2006.09.009
 PMID:29907691
 著者        Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL
 タイトル      A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
 雑誌        Sci Immunol 3:3/24/eaat4956 (2018)
 DOI:10.1126/sciimmunol.aat4956
 PMID:28747427
 著者        Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Muller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH
 タイトル      A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
 雑誌        J Exp Med 214:2547-2562 (2017)
 DOI:10.1084/jem.20161810
 PMID:31235509
 著者        Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gurel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavare S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED
 タイトル      Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
 雑誌        J Exp Med 216:1986-1998 (2019)
 DOI:10.1084/jem.20190344","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01968"">H01968</a>","高 IgE 症候群;
 Job 症候群;
 Buckley 症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.",,"(HIES1) STAT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6774"">6774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04692"">K04692</a>]
 (HIES2) DOCK8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81704"">81704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21852"">K21852</a>]
 (HIES3) ZNF341 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84905"">84905</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24852"">K24852</a>]
 (HIES4) IL6ST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3572"">3572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05060"">K05060</a>]
 (HIES5) IL6R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3570"">3570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05055"">K05055</a>]
 (HIES with mycobacteriosis) TYK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7297"">7297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11219"">K11219</a>]
 (HIES and cognitive impairment) PGM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5238"">5238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01836"">K01836</a>]",,,,,,"ICD-11: 4A01.34
 ICD-10: D82.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007589"">D007589</a>
 OMIM: <a href=""https://www.omim.org/entry/147060"">147060</a> <a href=""https://www.omim.org/entry/243700"">243700</a> <a href=""https://www.omim.org/entry/618282"">618282</a> <a href=""https://www.omim.org/entry/618523"">618523</a> <a href=""https://www.omim.org/entry/611521"">611521</a> <a href=""https://www.omim.org/entry/615816"">615816</a> <a href=""https://www.omim.org/entry/618944"">618944</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19717292"">19717292</a>
 著者        Minegishi Y
 タイトル      Hyper-IgE syndrome.
 雑誌        Curr Opin Immunol 21:487-92 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.coi.2009.07.013"">10.1016/j.coi.2009.07.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28567072"">28567072</a>
 著者        Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH
 タイトル      Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.
 雑誌        J Res Med Sci 22:53 (2017)
 DOI:<a href=""https://doi.org/10.4103/jrms.JRMS_1050_16"">10.4103/jrms.JRMS_1050_16</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15661034"">15661034</a>
 著者        Grimbacher B, Holland SM, Puck JM
 タイトル      Hyper-IgE syndromes.
 雑誌        Immunol Rev 203:244-50 (2005)
 DOI:<a href=""https://doi.org/10.1111/j.0105-2896.2005.00228.x"">10.1111/j.0105-2896.2005.00228.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24589341"">24589341</a>
 著者        Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD
 タイトル      Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
 雑誌        J Allergy Clin Immunol 133:1400-9, 1409.e1-5 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2014.02.013"">10.1016/j.jaci.2014.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19776401"">19776401</a>
 著者        Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC
 タイトル      Combined immunodeficiency associated with DOCK8 mutations.
 雑誌        N Engl J Med 361:2046-55 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0905506"">10.1056/NEJMoa0905506</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17088085"">17088085</a>
 著者        Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H
 タイトル      Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
 雑誌        Immunity 25:745-55 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.immuni.2006.09.009"">10.1016/j.immuni.2006.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29907691"">29907691</a>
 著者        Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL
 タイトル      A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
 雑誌        Sci Immunol 3:3/24/eaat4956 (2018)
 DOI:<a href=""https://doi.org/10.1126/sciimmunol.aat4956"">10.1126/sciimmunol.aat4956</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28747427"">28747427</a>
 著者        Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Muller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH
 タイトル      A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
 雑誌        J Exp Med 214:2547-2562 (2017)
 DOI:<a href=""https://doi.org/10.1084/jem.20161810"">10.1084/jem.20161810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31235509"">31235509</a>
 著者        Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gurel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavare S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED
 タイトル      Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
 雑誌        J Exp Med 216:1986-1998 (2019)
 DOI:<a href=""https://doi.org/10.1084/jem.20190344"">10.1084/jem.20190344</a>"
H01969,"X連鎖性リンパ球増殖症候群;
 Duncan 病
 上位グループ    リンパ球増殖症候群 [DS:H01970]
 他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr virus (EBV). Mutations in the SH2D1A/SAP gene, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Recently, mutations in the XIAP gene have been identified in patients with XLP.",原発性免疫不全症候群,,"(XLP1) SH2D1A [HSA:4068] [KO:K07990]
 (XLP2) XIAP [HSA:331] [KO:K04725]",Human herpesvirus 4 (Epstein-Barr virus),,,,,"ICD-11: 4A01.22
 ICD-10: D82.3
 MeSH: D008232
 OMIM: 308240 300635","PMID:20926771 (XLP1)
 著者        Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB
 タイトル      X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
 雑誌        Blood 117:53-62 (2011)
 DOI:10.1182/blood-2010-06-284935
 PMID:10556288 (XLP1)
 著者        Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
 タイトル      Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
 雑誌        Hum Mol Genet 8:2407-13 (1999)
 DOI:10.1093/hmg/8.13.2407
 PMID:17080092 (XLP2)
 著者        Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S
 タイトル      XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
 雑誌        Nature 444:110-4 (2006)
 DOI:10.1038/nature05257","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01969"">H01969</a>","X連鎖性リンパ球増殖症候群;
 Duncan 病
 上位グループ    リンパ球増殖症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01970"">H01970</a>]
 他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr virus (EBV). Mutations in the SH2D1A/SAP gene, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Recently, mutations in the XIAP gene have been identified in patients with XLP.",,"(XLP1) SH2D1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4068"">4068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07990"">K07990</a>]
 (XLP2) XIAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:331"">331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04725"">K04725</a>]",Human herpesvirus 4 (Epstein-Barr virus),,,,,"ICD-11: 4A01.22
 ICD-10: D82.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008232"">D008232</a>
 OMIM: <a href=""https://www.omim.org/entry/308240"">308240</a> <a href=""https://www.omim.org/entry/300635"">300635</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20926771"">20926771</a> (XLP1)
 著者        Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB
 タイトル      X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
 雑誌        Blood 117:53-62 (2011)
 DOI:<a href=""https://doi.org/10.1182/blood-2010-06-284935"">10.1182/blood-2010-06-284935</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10556288"">10556288</a> (XLP1)
 著者        Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
 タイトル      Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
 雑誌        Hum Mol Genet 8:2407-13 (1999)
 DOI:<a href=""https://doi.org/10.1093/hmg/8.13.2407"">10.1093/hmg/8.13.2407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17080092"">17080092</a> (XLP2)
 著者        Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S
 タイトル      XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
 雑誌        Nature 444:110-4 (2006)
 DOI:<a href=""https://doi.org/10.1038/nature05257"">10.1038/nature05257</a>"
H01970,"リンパ球増殖症候群
 下位グループ    X連鎖性リンパ球増殖症候群 [DS:H01969]
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells.",原発性免疫不全症候群,,"(LPFS1) ITK [HSA:3702] [KO:K07363]
 (LPFS2) CD27 [HSA:939] [KO:K05144]
 (LPFS3) CD70 [HSA:970] [KO:K05470]",Human herpesvirus 4 (Epstein-Barr virus),,,,,"ICD-11: 4A01.22
 ICD-10: D82.3
 MeSH: C567815
 OMIM: 613011 615122 618261","PMID:21109689
 著者        Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, Linka RM, Shaag A, Elpeleg O, Borkhardt A, Resnick IB
 タイトル      IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
 雑誌        Haematologica 96:472-6 (2011)
 DOI:10.3324/haematol.2010.033910
 PMID:19425169 (LPFS1)
 著者        Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A
 タイトル      Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
 雑誌        J Clin Invest 119:1350-8 (2009)
 DOI:10.1172/JCI37901
 PMID:22289921 (LPFS1)
 著者        Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Kohrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A
 タイトル      Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
 雑誌        Leukemia 26:963-71 (2012)
 DOI:10.1038/leu.2011.371
 PMID:22801960 (LPFS2)
 著者        Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Forster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG
 タイトル      Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
 雑誌        Haematologica 98:473-8 (2013)
 DOI:10.3324/haematol.2012.068791
 PMID:28011864 (LPFS3)
 著者        Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarstrom L, Tangye SG, Su HC, Pan-Hammarstrom Q
 タイトル      Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
 雑誌        J Exp Med 214:91-106 (2017)
 DOI:10.1084/jem.20160849","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01970"">H01970</a>","リンパ球増殖症候群
 下位グループ    X連鎖性リンパ球増殖症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01969"">H01969</a>]
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells.",,"(LPFS1) ITK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3702"">3702</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07363"">K07363</a>]
 (LPFS2) CD27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:939"">939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05144"">K05144</a>]
 (LPFS3) CD70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:970"">970</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05470"">K05470</a>]",Human herpesvirus 4 (Epstein-Barr virus),,,,,"ICD-11: 4A01.22
 ICD-10: D82.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567815"">C567815</a>
 OMIM: <a href=""https://www.omim.org/entry/613011"">613011</a> <a href=""https://www.omim.org/entry/615122"">615122</a> <a href=""https://www.omim.org/entry/618261"">618261</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21109689"">21109689</a>
 著者        Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, Linka RM, Shaag A, Elpeleg O, Borkhardt A, Resnick IB
 タイトル      IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
 雑誌        Haematologica 96:472-6 (2011)
 DOI:<a href=""https://doi.org/10.3324/haematol.2010.033910"">10.3324/haematol.2010.033910</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19425169"">19425169</a> (LPFS1)
 著者        Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A
 タイトル      Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
 雑誌        J Clin Invest 119:1350-8 (2009)
 DOI:<a href=""https://doi.org/10.1172/JCI37901"">10.1172/JCI37901</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22289921"">22289921</a> (LPFS1)
 著者        Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Kohrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A
 タイトル      Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
 雑誌        Leukemia 26:963-71 (2012)
 DOI:<a href=""https://doi.org/10.1038/leu.2011.371"">10.1038/leu.2011.371</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22801960"">22801960</a> (LPFS2)
 著者        Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Forster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG
 タイトル      Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
 雑誌        Haematologica 98:473-8 (2013)
 DOI:<a href=""https://doi.org/10.3324/haematol.2012.068791"">10.3324/haematol.2012.068791</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28011864"">28011864</a> (LPFS3)
 著者        Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarstrom L, Tangye SG, Su HC, Pan-Hammarstrom Q
 タイトル      Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
 雑誌        J Exp Med 214:91-106 (2017)
 DOI:<a href=""https://doi.org/10.1084/jem.20160849"">10.1084/jem.20160849</a>"
H01971,"IPEX 症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema.",原発性免疫不全症候群,,FOXP3 [HSA:50943] [KO:K10163],,,,,,"ICD-11: 4A01.21
 ICD-10: E31.0
 MeSH: C580192
 OMIM: 304790","PMID:12819471
 著者        Gambineri E, Torgerson TR, Ochs HD
 タイトル      Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
 雑誌        Curr Opin Rheumatol 15:430-5 (2003)
 DOI:10.1097/00002281-200307000-00010
 PMID:11137993
 著者        Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD
 タイトル      The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
 雑誌        Nat Genet 27:20-1 (2001)
 DOI:10.1038/83713","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01971"">H01971</a>","IPEX 症候群
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema.",,"FOXP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50943"">50943</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10163"">K10163</a>]",,,,,,"ICD-11: 4A01.21
 ICD-10: E31.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580192"">C580192</a>
 OMIM: <a href=""https://www.omim.org/entry/304790"">304790</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12819471"">12819471</a>
 著者        Gambineri E, Torgerson TR, Ochs HD
 タイトル      Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
 雑誌        Curr Opin Rheumatol 15:430-5 (2003)
 DOI:<a href=""https://doi.org/10.1097/00002281-200307000-00010"">10.1097/00002281-200307000-00010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11137993"">11137993</a>
 著者        Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD
 タイトル      The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
 雑誌        Nat Genet 27:20-1 (2001)
 DOI:<a href=""https://doi.org/10.1038/83713"">10.1038/83713</a>"
H01972,"多腺性自己免疫症候群 1型;
 自己免疫性多腺性内分泌不全症・カンジダ症・外胚葉ジストロフィー (APECED)
 上位グループ    他のよく定義された免疫不全症候群 [DS:H00107]
 原発性免疫不全症 [DS:H01725]",,,"Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion.",原発性免疫不全症候群,,AIRE [HSA:326] [KO:K10603],,,,,,"ICD-11: 5B00
 ICD-10: E31.0
 MeSH: C538275
 OMIM: 240300","PMID:18322283
 著者        Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O
 タイトル      Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
 雑誌        N Engl J Med 358:1018-28 (2008)
 DOI:10.1056/NEJMoa0706487
 PMID:10677297
 著者        Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L
 タイトル      Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
 雑誌        Am J Hum Genet 66:378-92 (2000)
 DOI:10.1086/302765
 PMID:16114041
 著者        Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I
 タイトル      Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
 雑誌        Hum Mutat 26:322-31 (2005)
 DOI:10.1002/humu.20224","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01972"">H01972</a>","多腺性自己免疫症候群 1型;
 自己免疫性多腺性内分泌不全症・カンジダ症・外胚葉ジストロフィー (APECED)
 上位グループ    他のよく定義された免疫不全症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00107"">H00107</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion.",,"AIRE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:326"">326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10603"">K10603</a>]",,,,,,"ICD-11: 5B00
 ICD-10: E31.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538275"">C538275</a>
 OMIM: <a href=""https://www.omim.org/entry/240300"">240300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18322283"">18322283</a>
 著者        Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O
 タイトル      Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
 雑誌        N Engl J Med 358:1018-28 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0706487"">10.1056/NEJMoa0706487</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10677297"">10677297</a>
 著者        Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L
 タイトル      Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
 雑誌        Am J Hum Genet 66:378-92 (2000)
 DOI:<a href=""https://doi.org/10.1086/302765"">10.1086/302765</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16114041"">16114041</a>
 著者        Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I
 タイトル      Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
 雑誌        Hum Mutat 26:322-31 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20224"">10.1002/humu.20224</a>"
H01973,"妊性宦官型症候群
 上位グループ    低ゴナドトロピン性性腺機能低下症 [DS:H00255]
 下垂体前葉機能低下症 [DS:H01700]
 男子性腺機能不全症 [DS:H02027]",,,"Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis despite the absence or scarcity of Leydig cells, and androgenic response (clinical or chemical or both) to administered human chorionic gonadotropin. In this disease, the levels of testosterone and follicle-stimulating hormone (FSH) are inadequate to induce spermatogenesis and the development of secondary sexual characteristics. Mutations in the beta subunit of luteinizing hormone gene have been identified from patients of this disease.",先天奇形,,LHB [HSA:3972] [KO:K08521],,,,,,"ICD-11: 5A61.0
 ICD-10: Q56.1
 OMIM: 228300","PMID:13061573
 著者        MCCULLAGH EP, BECK JC, SCHAFFENBURG CA
 タイトル      A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs).
 雑誌        J Clin Endocrinol Metab 13:489-509 (1953)
 DOI:10.1210/jcem-13-5-489
 PMID:13022759
 著者        PASQUALINI RQ
 タイトル      Hypoandrogenic syndrome with normal spermatogenesis.
 雑誌        J Clin Endocrinol Metab 13:128-9 (1953)
 DOI:10.1210/jcem-13-1-128
 PMID:23678225
 著者        Ozcan KS, Osmonov D, Altay S, Gungor B, Eren M
 タイトル      Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus.
 雑誌        Tex Heart Inst J 40:204-6 (2013)
 PMID:883676
 著者        Makler A, Glezerman M, Lunenfeld B
 タイトル      The fertile eunuch syndrome. An isolated leydig-cell failure?
 雑誌        Andrologia 9:163-70 (1977)
 DOI:10.1111/j.1439-0272.1977.tb01276.x
 PMID:14709845
 著者        Shiraishi K, Naito K
 タイトル      Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone.
 雑誌        Endocr J 50:733-7 (2003)
 DOI:10.1507/endocrj.50.733
 PMID:19126631 (drug)
 著者        Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, Beckers A
 タイトル      Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.
 雑誌        J Clin Endocrinol Metab 94:3-4 (2009)
 DOI:10.1210/jc.2008-1584","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01973"">H01973</a>","妊性宦官型症候群
 上位グループ    低ゴナドトロピン性性腺機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00255"">H00255</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]
 男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis despite the absence or scarcity of Leydig cells, and androgenic response (clinical or chemical or both) to administered human chorionic gonadotropin. In this disease, the levels of testosterone and follicle-stimulating hormone (FSH) are inadequate to induce spermatogenesis and the development of secondary sexual characteristics. Mutations in the beta subunit of luteinizing hormone gene have been identified from patients of this disease.",,"LHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3972"">3972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08521"">K08521</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: Q56.1
 OMIM: <a href=""https://www.omim.org/entry/228300"">228300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13061573"">13061573</a>
 著者        MCCULLAGH EP, BECK JC, SCHAFFENBURG CA
 タイトル      A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs).
 雑誌        J Clin Endocrinol Metab 13:489-509 (1953)
 DOI:<a href=""https://doi.org/10.1210/jcem-13-5-489"">10.1210/jcem-13-5-489</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13022759"">13022759</a>
 著者        PASQUALINI RQ
 タイトル      Hypoandrogenic syndrome with normal spermatogenesis.
 雑誌        J Clin Endocrinol Metab 13:128-9 (1953)
 DOI:<a href=""https://doi.org/10.1210/jcem-13-1-128"">10.1210/jcem-13-1-128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23678225"">23678225</a>
 著者        Ozcan KS, Osmonov D, Altay S, Gungor B, Eren M
 タイトル      Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus.
 雑誌        Tex Heart Inst J 40:204-6 (2013)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/883676"">883676</a>
 著者        Makler A, Glezerman M, Lunenfeld B
 タイトル      The fertile eunuch syndrome. An isolated leydig-cell failure?
 雑誌        Andrologia 9:163-70 (1977)
 DOI:<a href=""https://doi.org/10.1111/j.1439-0272.1977.tb01276.x"">10.1111/j.1439-0272.1977.tb01276.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14709845"">14709845</a>
 著者        Shiraishi K, Naito K
 タイトル      Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone.
 雑誌        Endocr J 50:733-7 (2003)
 DOI:<a href=""https://doi.org/10.1507/endocrj.50.733"">10.1507/endocrj.50.733</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19126631"">19126631</a> (drug)
 著者        Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, Beckers A
 タイトル      Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.
 雑誌        J Clin Endocrinol Metab 94:3-4 (2009)
 DOI:<a href=""https://doi.org/10.1210/jc.2008-1584"">10.1210/jc.2008-1584</a>"
H01974,肢帯型筋ジストロフィー 2B,,,"Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized by weakness in the proximal muscles at onset, involving predominantly the lower limbs. At late stages of the disease, loss of muscle bulk in the pelvic girdle and calf may appear. Onset is typically in the late teens or early adulthood.",神経系疾患; 筋骨格疾患,,DYSF [HSA:8291] [KO:K18261],,,,,,"ICD-11: 8C70.41
 ICD-10: G71.0
 MeSH: C535899
 OMIM: 253601","PMID:25574751
 著者        Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M
 タイトル      Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
 雑誌        Folia Neuropathol 52:452-6 (2014)
 DOI:10.5114/fn.2014.47847
 PMID:17287450
 著者        Illa I, De Luna N, Dominguez-Perles R, Rojas-Garcia R, Paradas C, Palmer J, Marquez C, Gallano P, Gallardo E
 タイトル      Symptomatic dysferlin gene mutation carriers: characterization of two cases.
 雑誌        Neurology 68:1284-9 (2007)
 DOI:10.1212/01.wnl.0000256768.79353.60
 PMID:11134403
 著者        Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K
 タイトル      Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
 雑誌        Neurology 55:1931-3 (2000)
 DOI:10.1212/wnl.55.12.1931
 PMID:8808603
 著者        Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K
 タイトル      Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
 雑誌        Am J Hum Genet 59:872-8 (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01974"">H01974</a>",肢帯型筋ジストロフィー 2B,"Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized by weakness in the proximal muscles at onset, involving predominantly the lower limbs. At late stages of the disease, loss of muscle bulk in the pelvic girdle and calf may appear. Onset is typically in the late teens or early adulthood.",,"DYSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8291"">8291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18261"">K18261</a>]",,,,,,"ICD-11: 8C70.41
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535899"">C535899</a>
 OMIM: <a href=""https://www.omim.org/entry/253601"">253601</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25574751"">25574751</a>
 著者        Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M
 タイトル      Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
 雑誌        Folia Neuropathol 52:452-6 (2014)
 DOI:<a href=""https://doi.org/10.5114/fn.2014.47847"">10.5114/fn.2014.47847</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17287450"">17287450</a>
 著者        Illa I, De Luna N, Dominguez-Perles R, Rojas-Garcia R, Paradas C, Palmer J, Marquez C, Gallano P, Gallardo E
 タイトル      Symptomatic dysferlin gene mutation carriers: characterization of two cases.
 雑誌        Neurology 68:1284-9 (2007)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000256768.79353.60"">10.1212/01.wnl.0000256768.79353.60</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11134403"">11134403</a>
 著者        Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K
 タイトル      Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
 雑誌        Neurology 55:1931-3 (2000)
 DOI:<a href=""https://doi.org/10.1212/wnl.55.12.1931"">10.1212/wnl.55.12.1931</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8808603"">8808603</a>
 著者        Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K
 タイトル      Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
 雑誌        Am J Hum Genet 59:872-8 (1996)"
H01975,"Welander 遠位型ミオパチー
 上位グループ    遠位型ミオパチー [DS:H00594]",,,Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. WDM is caused by mutations in TIA1 gene which encodes a key component of stress granules.,神経系疾患; 筋骨格疾患,,TIA1 [HSA:7072] [KO:K13201],,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: C536690
 OMIM: 604454","PMID:9608564
 著者        Ahlberg G, Borg K, Edstrom L, Anvret M
 タイトル      Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies.
 雑誌        Neuromuscul Disord 8:111-4 (1998)
 DOI:10.1016/S0960-8966(98)00007-8
 PMID:23401021
 著者        Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
 タイトル      Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
 雑誌        Ann Neurol 73:500-9 (2013)
 DOI:10.1002/ana.23831","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01975"">H01975</a>","Welander 遠位型ミオパチー
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]",Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. WDM is caused by mutations in TIA1 gene which encodes a key component of stress granules.,,"TIA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7072"">7072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13201"">K13201</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536690"">C536690</a>
 OMIM: <a href=""https://www.omim.org/entry/604454"">604454</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9608564"">9608564</a>
 著者        Ahlberg G, Borg K, Edstrom L, Anvret M
 タイトル      Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies.
 雑誌        Neuromuscul Disord 8:111-4 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(98)00007-8"">10.1016/S0960-8966(98)00007-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23401021"">23401021</a>
 著者        Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
 タイトル      Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
 雑誌        Ann Neurol 73:500-9 (2013)
 DOI:<a href=""https://doi.org/10.1002/ana.23831"">10.1002/ana.23831</a>"
H01976,"脛骨筋ジストロフィー
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains confined to the tibial anterior muscles. TMD is caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.",神経系疾患; 筋骨格疾患,,TTN [HSA:7273] [KO:K12567],,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: D049310
 OMIM: 600334","PMID:9497249
 著者        Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
 タイトル      Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
 雑誌        Am J Hum Genet 62:620-6 (1998)
 DOI:10.1086/301752
 PMID:12891679
 著者        Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B
 タイトル      Tibial muscular dystrophy in a Belgian family.
 雑誌        Ann Neurol 54:248-51 (2003)
 DOI:10.1002/ana.10647
 PMID:12145747
 著者        Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B
 タイトル      Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
 雑誌        Am J Hum Genet 71:492-500 (2002)
 DOI:10.1086/342380","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01976"">H01976</a>","脛骨筋ジストロフィー
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains confined to the tibial anterior muscles. TMD is caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.",,"TTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7273"">7273</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12567"">K12567</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049310"">D049310</a>
 OMIM: <a href=""https://www.omim.org/entry/600334"">600334</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9497249"">9497249</a>
 著者        Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
 タイトル      Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
 雑誌        Am J Hum Genet 62:620-6 (1998)
 DOI:<a href=""https://doi.org/10.1086/301752"">10.1086/301752</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12891679"">12891679</a>
 著者        Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B
 タイトル      Tibial muscular dystrophy in a Belgian family.
 雑誌        Ann Neurol 54:248-51 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10647"">10.1002/ana.10647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12145747"">12145747</a>
 著者        Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B
 タイトル      Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
 雑誌        Am J Hum Genet 71:492-500 (2002)
 DOI:<a href=""https://doi.org/10.1086/342380"">10.1086/342380</a>"
H01977,"Laing 遠位型ミオパチー;
 遠位型ミオパチー 1
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the abductors and rotators. This disease is caused by mutations in MYH7, the gene encoding the myosin heavy chain, which is expressed in type 1 fibers of skeletal muscle and in the heart.",神経系疾患; 筋骨格疾患,,MYH7 [HSA:4625] [KO:K17751],,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: D049310
 OMIM: 160500","PMID:17548557
 著者        Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A
 タイトル      New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.
 雑誌        Neurology 68:2041-2 (2007)
 DOI:10.1212/01.wnl.0000264430.55233.72
 PMID:15322983
 著者        Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG
 タイトル      Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
 雑誌        Am J Hum Genet 75:703-8 (2004)
 DOI:10.1086/424760","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01977"">H01977</a>","Laing 遠位型ミオパチー;
 遠位型ミオパチー 1
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the abductors and rotators. This disease is caused by mutations in MYH7, the gene encoding the myosin heavy chain, which is expressed in type 1 fibers of skeletal muscle and in the heart.",,"MYH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4625"">4625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17751"">K17751</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049310"">D049310</a>
 OMIM: <a href=""https://www.omim.org/entry/160500"">160500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17548557"">17548557</a>
 著者        Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A
 タイトル      New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.
 雑誌        Neurology 68:2041-2 (2007)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000264430.55233.72"">10.1212/01.wnl.0000264430.55233.72</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15322983"">15322983</a>
 著者        Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG
 タイトル      Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
 雑誌        Am J Hum Genet 75:703-8 (2004)
 DOI:<a href=""https://doi.org/10.1086/424760"">10.1086/424760</a>"
H01978,"乾性遺伝性有口赤血球症
 上位グループ    遺伝性有口赤血球症 [DS:H00232]",,,"Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate hemolytic anemia. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated mean corpuscular hemoglobin concentration (MCHC) and mean corpuscular volume (MCV), and decreased osmotic fragility. The definitive diagnosis of DHS is made by osmotic gradient ektacytometry, which shows a leftward shift of the bell-shaped curve. In many patients, heterozygous mutations in the mechanosensitive cation channel gene PIEZO1 have been identified. Mutations in the Gardos channel, encoded by the KCNN4 gene, have also been identified.",循環器疾患,,"(DHS1) PIEZO1 [HSA:9780] [KO:K22128]
 (DHS2) KCNN4 [HSA:3783] [KO:K04945]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: 194380 616689","PMID:5559828
 著者        Miller DR, Rickles FR, Lichtman MA, La Celle PL, Bates J, Weed RI
 タイトル      A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality.
 雑誌        Blood 38:184-204 (1971)
 PMID:26178367
 著者        Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A
 タイトル      Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
 雑誌        Am J Hematol 90:921-6 (2015)
 DOI:10.1002/ajh.24117
 PMID:26198474
 著者        Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG
 タイトル      Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
 雑誌        Blood 126:1281-4 (2015)
 DOI:10.1182/blood-2015-07-657957","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01978"">H01978</a>","乾性遺伝性有口赤血球症
 上位グループ    遺伝性有口赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00232"">H00232</a>]","Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate hemolytic anemia. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated mean corpuscular hemoglobin concentration (MCHC) and mean corpuscular volume (MCV), and decreased osmotic fragility. The definitive diagnosis of DHS is made by osmotic gradient ektacytometry, which shows a leftward shift of the bell-shaped curve. In many patients, heterozygous mutations in the mechanosensitive cation channel gene PIEZO1 have been identified. Mutations in the Gardos channel, encoded by the KCNN4 gene, have also been identified.",,"(DHS1) PIEZO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9780"">9780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22128"">K22128</a>]
 (DHS2) KCNN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3783"">3783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04945"">K04945</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/194380"">194380</a> <a href=""https://www.omim.org/entry/616689"">616689</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5559828"">5559828</a>
 著者        Miller DR, Rickles FR, Lichtman MA, La Celle PL, Bates J, Weed RI
 タイトル      A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality.
 雑誌        Blood 38:184-204 (1971)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26178367"">26178367</a>
 著者        Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A
 タイトル      Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
 雑誌        Am J Hematol 90:921-6 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajh.24117"">10.1002/ajh.24117</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26198474"">26198474</a>
 著者        Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG
 タイトル      Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
 雑誌        Blood 126:1281-4 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2015-07-657957"">10.1182/blood-2015-07-657957</a>"
H01979,"水分過剰遺伝性有口赤血球症
 上位グループ    遺伝性有口赤血球症 [DS:H00232]",,,"Overhydrated hereditary stomatocytosis (OHST), which is clinically characterized by a hemolytic anemia, is a rare, dominantly inherited disorder of red blood cells (RBCs) associated with increased membrane permeability to monovalent cations and increased activity of the Na+K+-ATPase. The influx of Na+ exceeds the loss of K+ causing water influx and resulting in swollen erythrocytes, hemolysis, and stomatocyte formation. The OHST phenotype is also associated with a dramatic decrease or the absence of the 32-kDa membrane raft protein stomatin. OHST diagnosis is based on a hemolytic anemia associated with a massive right shift of the osmotic gradient ektacytometry curve and a decreased osmotic resistance, together with a major increase in a monovalent cation leak. Recently, OHST was found to be linked to amino acid substitutions in Rh-associated glycoprotein (RhAG).",血液疾患,,RHAG [HSA:6005] [KO:K06580],,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: 185000","PMID:13762977
 著者        LOCK SP, SMITH RS, HARDISTY RM
 タイトル      Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia.
 雑誌        Br J Haematol 7:303-14 (1961)
 DOI:10.1111/j.1365-2141.1961.tb00341.x
 PMID:22012326
 著者        Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I
 タイトル      Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.
 雑誌        Am J Physiol Cell Physiol 302:C419-28 (2012)
 DOI:10.1152/ajpcell.00092.2011
 PMID:21859730
 著者        Darghouth D, Koehl B, Heilier JF, Madalinski G, Bovee P, Bosman G, Delaunay J, Junot C, Romeo PH
 タイトル      Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
 雑誌        Haematologica 96:1861-5 (2011)
 DOI:10.3324/haematol.2011.045179
 PMID:17961506
 著者        Wilkinson DK, Turner EJ, Parkin ET, Garner AE, Harrison PJ, Crawford M, Stewart GW, Hooper NM
 タイトル      Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis.
 雑誌        Biochim Biophys Acta 1778:125-32 (2008)
 DOI:10.1016/j.bbamem.2007.09.016
 PMID:23406318
 著者        Shmukler BE, Mukodzi S, Andres O, Eber S, Alper SL
 タイトル      Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.
 雑誌        Br J Haematol 161:602-4 (2013)
 DOI:10.1111/bjh.12261","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01979"">H01979</a>","水分過剰遺伝性有口赤血球症
 上位グループ    遺伝性有口赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00232"">H00232</a>]","Overhydrated hereditary stomatocytosis (OHST), which is clinically characterized by a hemolytic anemia, is a rare, dominantly inherited disorder of red blood cells (RBCs) associated with increased membrane permeability to monovalent cations and increased activity of the Na+K+-ATPase. The influx of Na+ exceeds the loss of K+ causing water influx and resulting in swollen erythrocytes, hemolysis, and stomatocyte formation. The OHST phenotype is also associated with a dramatic decrease or the absence of the 32-kDa membrane raft protein stomatin. OHST diagnosis is based on a hemolytic anemia associated with a massive right shift of the osmotic gradient ektacytometry curve and a decreased osmotic resistance, together with a major increase in a monovalent cation leak. Recently, OHST was found to be linked to amino acid substitutions in Rh-associated glycoprotein (RhAG).",,"RHAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6005"">6005</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06580"">K06580</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/185000"">185000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13762977"">13762977</a>
 著者        LOCK SP, SMITH RS, HARDISTY RM
 タイトル      Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia.
 雑誌        Br J Haematol 7:303-14 (1961)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.1961.tb00341.x"">10.1111/j.1365-2141.1961.tb00341.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22012326"">22012326</a>
 著者        Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I
 タイトル      Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.
 雑誌        Am J Physiol Cell Physiol 302:C419-28 (2012)
 DOI:<a href=""https://doi.org/10.1152/ajpcell.00092.2011"">10.1152/ajpcell.00092.2011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21859730"">21859730</a>
 著者        Darghouth D, Koehl B, Heilier JF, Madalinski G, Bovee P, Bosman G, Delaunay J, Junot C, Romeo PH
 タイトル      Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
 雑誌        Haematologica 96:1861-5 (2011)
 DOI:<a href=""https://doi.org/10.3324/haematol.2011.045179"">10.3324/haematol.2011.045179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17961506"">17961506</a>
 著者        Wilkinson DK, Turner EJ, Parkin ET, Garner AE, Harrison PJ, Crawford M, Stewart GW, Hooper NM
 タイトル      Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis.
 雑誌        Biochim Biophys Acta 1778:125-32 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.bbamem.2007.09.016"">10.1016/j.bbamem.2007.09.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23406318"">23406318</a>
 著者        Shmukler BE, Mukodzi S, Andres O, Eber S, Alper SL
 タイトル      Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.
 雑誌        Br J Haematol 161:602-4 (2013)
 DOI:<a href=""https://doi.org/10.1111/bjh.12261"">10.1111/bjh.12261</a>"
H01980,"SCAD 欠損症;
 短鎖アシルCoA デヒドロゲナーゼ欠損症;
 ACADS 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting to hypotonia and seizures accompanied with developmental delay.",先天性代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,ACADS [HSA:35] [KO:K00248],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: C537596
 OMIM: 201470","PMID:11134486
 著者        Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
 タイトル      Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
 雑誌        Pediatr Res 49:18-23 (2001)
 DOI:10.1203/00006450-200101000-00008
 PMID:11524729
 著者        Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P
 タイトル      Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
 雑誌        Hum Mutat 18:169-89 (2001)
 DOI:10.1002/humu.1174","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01980"">H01980</a>","SCAD 欠損症;
 短鎖アシルCoA デヒドロゲナーゼ欠損症;
 ACADS 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting to hypotonia and seizures accompanied with developmental delay.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","ACADS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:35"">35</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00248"">K00248</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537596"">C537596</a>
 OMIM: <a href=""https://www.omim.org/entry/201470"">201470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11134486"">11134486</a>
 著者        Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
 タイトル      Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
 雑誌        Pediatr Res 49:18-23 (2001)
 DOI:<a href=""https://doi.org/10.1203/00006450-200101000-00008"">10.1203/00006450-200101000-00008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11524729"">11524729</a>
 著者        Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P
 タイトル      Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
 雑誌        Hum Mutat 18:169-89 (2001)
 DOI:<a href=""https://doi.org/10.1002/humu.1174"">10.1002/humu.1174</a>"
H01981,"カルニチンパルミトイルトランスフェラーゼ I 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria. Defects in the liver isoform of CPT1 (CPT1A) present with recurrent attacks of fasting hypoketotic hypoglycemia.,先天性代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,CPT1A [HSA:1374] [KO:K08765],,,,,,"ICD-11: 5C52.00
 ICD-10: E71.4
 MeSH: C535588
 OMIM: 255120","PMID:16602102
 著者        Longo N, Amat di San Filippo C, Pasquali M
 タイトル      Disorders of carnitine transport and the carnitine cycle.
 雑誌        Am J Med Genet C Semin Med Genet 142C:77-85 (2006)
 DOI:10.1002/ajmg.c.30087
 PMID:12189492
 著者        Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L
 タイトル      Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
 雑誌        Hum Genet 111:179-89 (2002)
 DOI:10.1007/s00439-002-0752-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01981"">H01981</a>","カルニチンパルミトイルトランスフェラーゼ I 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria. Defects in the liver isoform of CPT1 (CPT1A) present with recurrent attacks of fasting hypoketotic hypoglycemia.,"<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","CPT1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1374"">1374</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08765"">K08765</a>]",,,,,,"ICD-11: 5C52.00
 ICD-10: E71.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535588"">C535588</a>
 OMIM: <a href=""https://www.omim.org/entry/255120"">255120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602102"">16602102</a>
 著者        Longo N, Amat di San Filippo C, Pasquali M
 タイトル      Disorders of carnitine transport and the carnitine cycle.
 雑誌        Am J Med Genet C Semin Med Genet 142C:77-85 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30087"">10.1002/ajmg.c.30087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12189492"">12189492</a>
 著者        Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L
 タイトル      Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
 雑誌        Hum Genet 111:179-89 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0752-0"">10.1007/s00439-002-0752-0</a>"
H01982,"カルニチンパルミトイルトランスフェラーゼ II 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.",先天性代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,CPT2 [HSA:1376] [KO:K08766],,,,,,"ICD-11: 5C52.00
 ICD-10: E71.4
 MeSH: C563462 C563463
 OMIM: 600649 608836 255110","PMID:8651281
 著者        Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F
 タイトル      Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
 雑誌        Am J Hum Genet 58:971-8 (1996)
 PMID:18550408
 著者        Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD
 タイトル      CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
 雑誌        Mol Genet Metab 94:422-7 (2008)
 DOI:10.1016/j.ymgme.2008.05.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01982"">H01982</a>","カルニチンパルミトイルトランスフェラーゼ II 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.","<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","CPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1376"">1376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08766"">K08766</a>]",,,,,,"ICD-11: 5C52.00
 ICD-10: E71.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563462"">C563462</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563463"">C563463</a>
 OMIM: <a href=""https://www.omim.org/entry/600649"">600649</a> <a href=""https://www.omim.org/entry/608836"">608836</a> <a href=""https://www.omim.org/entry/255110"">255110</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8651281"">8651281</a>
 著者        Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F
 タイトル      Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
 雑誌        Am J Hum Genet 58:971-8 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18550408"">18550408</a>
 著者        Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD
 タイトル      CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
 雑誌        Mol Genet Metab 94:422-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2008.05.002"">10.1016/j.ymgme.2008.05.002</a>"
H01983,"カルニチン-アシルカルニチントランスロカーゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.,先天代謝異常症; ミトコンドリア病,nt06020  beta-Oxidation in mitochondria,SLC25A20 [HSA:788] [KO:K15109],,,,,,"ICD-11: 5C52.00
 ICD-10: E71.3
 MeSH: C562812
 OMIM: 212138","PMID:24088670
 著者        Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T
 タイトル      Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
 雑誌        J Hum Genet 58:788-93 (2013)
 DOI:10.1038/jhg.2013.103
 PMID:16602102
 著者        Longo N, Amat di San Filippo C, Pasquali M
 タイトル      Disorders of carnitine transport and the carnitine cycle.
 雑誌        Am J Med Genet C Semin Med Genet 142C:77-85 (2006)
 DOI:10.1002/ajmg.c.30087","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01983"">H01983</a>","カルニチン-アシルカルニチントランスロカーゼ欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]",Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.,"<a href=""https://www.kegg.jp/network/nt06020"">nt06020</a>  beta-Oxidation in mitochondria","SLC25A20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:788"">788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15109"">K15109</a>]",,,,,,"ICD-11: 5C52.00
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562812"">C562812</a>
 OMIM: <a href=""https://www.omim.org/entry/212138"">212138</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24088670"">24088670</a>
 著者        Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T
 タイトル      Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
 雑誌        J Hum Genet 58:788-93 (2013)
 DOI:<a href=""https://doi.org/10.1038/jhg.2013.103"">10.1038/jhg.2013.103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16602102"">16602102</a>
 著者        Longo N, Amat di San Filippo C, Pasquali M
 タイトル      Disorders of carnitine transport and the carnitine cycle.
 雑誌        Am J Med Genet C Semin Med Genet 142C:77-85 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30087"">10.1002/ajmg.c.30087</a>"
H01984,"レオパード症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]",,,"LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. Approximately 90% of LEOPARD syndrome cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. But it may also be caused by mutations in RAF1 or BRAF.",先天奇形,,"(LPRD1) PTPN11 [HSA:5781] [KO:K07293]
 (LPRD2) RAF1 [HSA:5894] [KO:K04366]
 (LPRD3) BRAF [HSA:673] [KO:K04365]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: D044542
 OMIM: 151100 611554 613707","PMID:20535210
 著者        Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR
 タイトル      Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
 雑誌        Nature 465:808-12 (2010)
 DOI:10.1038/nature09005
 PMID:17603483
 著者        Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD
 タイトル      Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 39:1007-12 (2007)
 DOI:10.1038/ng2073
 PMID:19416762
 著者        Koudova M, Seemanova E, Zenker M
 タイトル      Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
 雑誌        Eur J Med Genet 52:337-40 (2009)
 DOI:10.1016/j.ejmg.2009.04.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01984"">H01984</a>","レオパード症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. Approximately 90% of LEOPARD syndrome cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. But it may also be caused by mutations in RAF1 or BRAF.",,"(LPRD1) PTPN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]
 (LPRD2) RAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5894"">5894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04366"">K04366</a>]
 (LPRD3) BRAF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D044542"">D044542</a>
 OMIM: <a href=""https://www.omim.org/entry/151100"">151100</a> <a href=""https://www.omim.org/entry/611554"">611554</a> <a href=""https://www.omim.org/entry/613707"">613707</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20535210"">20535210</a>
 著者        Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR
 タイトル      Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
 雑誌        Nature 465:808-12 (2010)
 DOI:<a href=""https://doi.org/10.1038/nature09005"">10.1038/nature09005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17603483"">17603483</a>
 著者        Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD
 タイトル      Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
 雑誌        Nat Genet 39:1007-12 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2073"">10.1038/ng2073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19416762"">19416762</a>
 著者        Koudova M, Seemanova E, Zenker M
 タイトル      Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
 雑誌        Eur J Med Genet 52:337-40 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2009.04.006"">10.1016/j.ejmg.2009.04.006</a>"
H01985,繊維形成性小円形細胞腫瘍,,,"Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality, t(11;22)(pl3;q12) that involves the EWSR1 and WT1 genes. EWSR1 encodes the EWS protein which is a member of the FET family of RNA-binding proteins, while WT1 encodes a zinc-finger transcription factor. Several transcriptional targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R). Somatic MET and PIK3CA mutations have also been identified.",がん,,"EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234]
 MET (mutation) [HSA:4233] [KO:K05099]
 PIK3CA (mutation) [HSA:5290] [KO:K00922]",,,,,,"ICD-11: 2B5K
 ICD-10: C49.9
 MeSH: D058405","PMID:12640103
 著者        Zhang PJ, Goldblum JR, Pawel BR, Fisher C, Pasha TL, Barr FG
 タイトル      Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product.
 雑誌        Mod Pathol 16:229-35 (2003)
 DOI:10.1097/01.MP.0000056630.76035.F3
 PMID:9738572
 著者        Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP, Rosai J
 タイトル      Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.
 雑誌        J Clin Oncol 16:3028-36 (1998)
 DOI:10.1200/JCO.1998.16.9.3028
 PMID:22550424
 著者        Dufresne A, Cassier P, Couraud L, Marec-Berard P, Meeus P, Alberti L, Blay JY
 タイトル      Desmoplastic small round cell tumor: current management and recent findings.
 雑誌        Sarcoma 2012:714986 (2012)
 DOI:10.1155/2012/714986
 PMID:28415643
 著者        Negri T, Brich S, Bozzi F, Volpi CV, Gualeni AV, Stacchiotti S, De Cecco L, Canevari S, Gloghini A, Pilotti S
 タイトル      New transcriptional-based insights into the pathogenesis of desmoplastic small round cell tumors (DSRCTs).
 雑誌        Oncotarget 8:32492-32504 (2017)
 DOI:10.18632/oncotarget.16477
 PMID:25119929
 著者        Jiang Y, Subbiah V, Janku F, Ludwig JA, Naing A, Benjamin RS, Brown RE, Anderson P, Kurzrock R
 タイトル      Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors.
 雑誌        PLoS One 9:e93676 (2014)
 DOI:10.1371/journal.pone.0093676
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01985"">H01985</a>",繊維形成性小円形細胞腫瘍,"Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality, t(11;22)(pl3;q12) that involves the EWSR1 and WT1 genes. EWSR1 encodes the EWS protein which is a member of the FET family of RNA-binding proteins, while WT1 encodes a zinc-finger transcription factor. Several transcriptional targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R). Somatic MET and PIK3CA mutations have also been identified.",,"EWSR1-WT1 (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7490"">7490</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09234"">K09234</a>]
 MET (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4233"">4233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05099"">K05099</a>]
 PIK3CA (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]",,,,,,"ICD-11: 2B5K
 ICD-10: C49.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058405"">D058405</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12640103"">12640103</a>
 著者        Zhang PJ, Goldblum JR, Pawel BR, Fisher C, Pasha TL, Barr FG
 タイトル      Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product.
 雑誌        Mod Pathol 16:229-35 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.MP.0000056630.76035.F3"">10.1097/01.MP.0000056630.76035.F3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9738572"">9738572</a>
 著者        Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP, Rosai J
 タイトル      Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.
 雑誌        J Clin Oncol 16:3028-36 (1998)
 DOI:<a href=""https://doi.org/10.1200/JCO.1998.16.9.3028"">10.1200/JCO.1998.16.9.3028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22550424"">22550424</a>
 著者        Dufresne A, Cassier P, Couraud L, Marec-Berard P, Meeus P, Alberti L, Blay JY
 タイトル      Desmoplastic small round cell tumor: current management and recent findings.
 雑誌        Sarcoma 2012:714986 (2012)
 DOI:<a href=""https://doi.org/10.1155/2012/714986"">10.1155/2012/714986</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28415643"">28415643</a>
 著者        Negri T, Brich S, Bozzi F, Volpi CV, Gualeni AV, Stacchiotti S, De Cecco L, Canevari S, Gloghini A, Pilotti S
 タイトル      New transcriptional-based insights into the pathogenesis of desmoplastic small round cell tumors (DSRCTs).
 雑誌        Oncotarget 8:32492-32504 (2017)
 DOI:<a href=""https://doi.org/10.18632/oncotarget.16477"">10.18632/oncotarget.16477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25119929"">25119929</a>
 著者        Jiang Y, Subbiah V, Janku F, Ludwig JA, Naing A, Benjamin RS, Brown RE, Anderson P, Kurzrock R
 タイトル      Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors.
 雑誌        PLoS One 9:e93676 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0093676"">10.1371/journal.pone.0093676</a>
 著者        Papadakis MA and McPhee SJ |(ed)
 タイトル      Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
 雑誌        McGraw Hill Education"
H01986,"Legius 症候群
 上位グループ    神経線維腫症 I 型 [DS:H01437]",,,Legius syndrome (LS) is a mild neurofibromatosis type 1-like syndrome. Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a negative regulator of the MAPK signalling cascade by suppressing Raf phosphorylation.,先天奇形,,SPRED1 [HSA:161742] [KO:K04703],,,,,,"ICD-11: LD27.5
 ICD-10: Q85.0
 MeSH: C548032
 OMIM: 611431","PMID:22753041
 著者        Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L
 タイトル      Review and update of SPRED1 mutations causing Legius syndrome.
 雑誌        Hum Mutat 33:1538-46 (2012)
 DOI:10.1002/humu.22152
 PMID:21649642
 著者        Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M
 タイトル      Identification of five novel SPRED1 germline mutations in Legius syndrome.
 雑誌        Clin Genet 80:93-6 (2011)
 DOI:10.1111/j.1399-0004.2010.01618.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01986"">H01986</a>","Legius 症候群
 上位グループ    神経線維腫症 I 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01437"">H01437</a>]",Legius syndrome (LS) is a mild neurofibromatosis type 1-like syndrome. Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a negative regulator of the MAPK signalling cascade by suppressing Raf phosphorylation.,,"SPRED1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:161742"">161742</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04703"">K04703</a>]",,,,,,"ICD-11: LD27.5
 ICD-10: Q85.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C548032"">C548032</a>
 OMIM: <a href=""https://www.omim.org/entry/611431"">611431</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22753041"">22753041</a>
 著者        Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L
 タイトル      Review and update of SPRED1 mutations causing Legius syndrome.
 雑誌        Hum Mutat 33:1538-46 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22152"">10.1002/humu.22152</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21649642"">21649642</a>
 著者        Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M
 タイトル      Identification of five novel SPRED1 germline mutations in Legius syndrome.
 雑誌        Clin Genet 80:93-6 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01618.x"">10.1111/j.1399-0004.2010.01618.x</a>"
H01987,"家族性自律神経失調症;
 ライリー・デイ症候群;
 遺伝性感覚性自律神経性ニューロパチー 3型
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:H00265]",,,"Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.",神経系疾患,,ELP1 [HSA:8518] [KO:K11373],,,,,,"ICD-11: 8C21.1
 ICD-10: G90.1
 MeSH: D004402
 OMIM: 223900","PMID:10090896
 著者        Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF
 タイトル      Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
 雑誌        Am J Hum Genet 64:1110-8 (1999)
 DOI:10.1086/302339
 PMID:11179021
 著者        Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY
 タイトル      Familial dysautonomia is caused by mutations of the IKAP gene.
 雑誌        Am J Hum Genet 68:753-8 (2001)
 DOI:10.1086/318808","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01987"">H01987</a>","家族性自律神経失調症;
 ライリー・デイ症候群;
 遺伝性感覚性自律神経性ニューロパチー 3型
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00265"">H00265</a>]","Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.",,"ELP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8518"">8518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11373"">K11373</a>]",,,,,,"ICD-11: 8C21.1
 ICD-10: G90.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004402"">D004402</a>
 OMIM: <a href=""https://www.omim.org/entry/223900"">223900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10090896"">10090896</a>
 著者        Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF
 タイトル      Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
 雑誌        Am J Hum Genet 64:1110-8 (1999)
 DOI:<a href=""https://doi.org/10.1086/302339"">10.1086/302339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11179021"">11179021</a>
 著者        Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY
 タイトル      Familial dysautonomia is caused by mutations of the IKAP gene.
 雑誌        Am J Hum Genet 68:753-8 (2001)
 DOI:<a href=""https://doi.org/10.1086/318808"">10.1086/318808</a>"
H01988,"Jackson-Weiss 症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.",先天奇形,,"FGFR1 [HSA:2260] [KO:K04362]
 FGFR2 [HSA:2263] [KO:K05093]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: C537559
 OMIM: 123150","PMID:7874170
 著者        Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M
 タイトル      Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
 雑誌        Nat Genet 8:275-9 (1994)
 DOI:10.1038/ng1194-275
 PMID:27683237
 著者        Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T
 タイトル      Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
 雑誌        Am J Med Genet A 173:157-162 (2017)
 DOI:10.1002/ajmg.a.37992","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01988"">H01988</a>","Jackson-Weiss 症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.",,"FGFR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2260"">2260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04362"">K04362</a>]
 FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537559"">C537559</a>
 OMIM: <a href=""https://www.omim.org/entry/123150"">123150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7874170"">7874170</a>
 著者        Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M
 タイトル      Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
 雑誌        Nat Genet 8:275-9 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng1194-275"">10.1038/ng1194-275</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27683237"">27683237</a>
 著者        Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T
 タイトル      Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
 雑誌        Am J Med Genet A 173:157-162 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37992"">10.1002/ajmg.a.37992</a>"
H01989,"Beare-Stevenson 症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Beare-Stevenson cutis gyrata syndrome is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.",先天奇形,,FGFR2 [HSA:2263] [KO:K05093],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: C565129
 OMIM: 123790","PMID:18247426
 著者        Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM
 タイトル      Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
 雑誌        Am J Med Genet A 146A:658-60 (2008)
 DOI:10.1002/ajmg.a.32176
 PMID:8696350
 著者        Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW
 タイトル      Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
 雑誌        Nat Genet 13:492-4 (1996)
 DOI:10.1038/ng0896-492","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01989"">H01989</a>","Beare-Stevenson 症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Beare-Stevenson cutis gyrata syndrome is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.",,"FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565129"">C565129</a>
 OMIM: <a href=""https://www.omim.org/entry/123790"">123790</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18247426"">18247426</a>
 著者        Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM
 タイトル      Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
 雑誌        Am J Med Genet A 146A:658-60 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32176"">10.1002/ajmg.a.32176</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8696350"">8696350</a>
 著者        Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW
 タイトル      Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
 雑誌        Nat Genet 13:492-4 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0896-492"">10.1038/ng0896-492</a>"
H01990,"Muenke 症候群;
 Muenke 頭蓋骨縫合早期癒合症
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.",先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: C537369
 OMIM: 602849","PMID:18000976
 著者        Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M
 タイトル      Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
 雑誌        Am J Med Genet A 143A:3204-15 (2007)
 DOI:10.1002/ajmg.a.32078
 PMID:9279764
 著者        Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S
 タイトル      Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
 雑誌        J Med Genet 34:683-4 (1997)
 DOI:10.1136/jmg.34.8.683","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01990"">H01990</a>","Muenke 症候群;
 Muenke 頭蓋骨縫合早期癒合症
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.",,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537369"">C537369</a>
 OMIM: <a href=""https://www.omim.org/entry/602849"">602849</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18000976"">18000976</a>
 著者        Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M
 タイトル      Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
 雑誌        Am J Med Genet A 143A:3204-15 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32078"">10.1002/ajmg.a.32078</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9279764"">9279764</a>
 著者        Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S
 タイトル      Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
 雑誌        J Med Genet 34:683-4 (1997)
 DOI:<a href=""https://doi.org/10.1136/jmg.34.8.683"">10.1136/jmg.34.8.683</a>"
H01991,"ゼーツレ‐コッツェン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 were also detected.",先天奇形,,"TWIST1 [HSA:7291] [KO:K09069]
 FGFR2 [HSA:2263] [KO:K05093]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: D000168
 OMIM: 101400","PMID:11977182 (TWIST1)
 著者        Dollfus H, Biswas P, Kumaramanickavel G, Stoetzel C, Quillet R, Biswas J, Lajeunie E, Renier D, Perrin-Schmitt F
 タイトル      Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.
 雑誌        Am J Med Genet 109:218-25 (2002)
 DOI:10.1002/ajmg.10349
 PMID:11248247 (TWIST1)
 著者        El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, Lajeunie E, Renier D, Munnich A, Bonaventure J
 タイトル      Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
 雑誌        FEBS Lett 492:112-8 (2001)
 DOI:10.1016/S0014-5793(01)02238-4
 PMID:9585583 (TWIST1, FGFR2)
 著者        Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW
 タイトル      Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
 雑誌        Am J Hum Genet 62:1370-80 (1998)
 DOI:10.1086/301855","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01991"">H01991</a>","ゼーツレ‐コッツェン症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 were also detected.",,"TWIST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7291"">7291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]
 FGFR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2263"">2263</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05093"">K05093</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000168"">D000168</a>
 OMIM: <a href=""https://www.omim.org/entry/101400"">101400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11977182"">11977182</a> (TWIST1)
 著者        Dollfus H, Biswas P, Kumaramanickavel G, Stoetzel C, Quillet R, Biswas J, Lajeunie E, Renier D, Perrin-Schmitt F
 タイトル      Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.
 雑誌        Am J Med Genet 109:218-25 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10349"">10.1002/ajmg.10349</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11248247"">11248247</a> (TWIST1)
 著者        El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, Lajeunie E, Renier D, Munnich A, Bonaventure J
 タイトル      Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
 雑誌        FEBS Lett 492:112-8 (2001)
 DOI:<a href=""https://doi.org/10.1016/S0014-5793(01)02238-4"">10.1016/S0014-5793(01)02238-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9585583"">9585583</a> (TWIST1, <a href=""https://pubmed.ncbi.nlm.nih.gov/FGFR2)"">FGFR2)</a>
 著者        Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW
 タイトル      Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
 雑誌        Am J Hum Genet 62:1370-80 (1998)
 DOI:<a href=""https://doi.org/10.1086/301855"">10.1086/301855</a>"
H01992,"頭蓋前頭鼻骨症候群;
 頭蓋前頭鼻骨異形成
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,"Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.",先天奇形,,EFNB1 [HSA:1947] [KO:K05463],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.1
 MeSH: C536456
 OMIM: 304110","PMID:23335590
 著者        Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO
 タイトル      Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
 雑誌        Hum Mol Genet 22:1654-62 (2013)
 DOI:10.1093/hmg/ddt015
 PMID:16143553
 著者        Wieacker P, Wieland I
 タイトル      Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
 雑誌        Mol Genet Metab 86:110-6 (2005)
 DOI:10.1016/j.ymgme.2005.07.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01992"">H01992</a>","頭蓋前頭鼻骨症候群;
 頭蓋前頭鼻骨異形成
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]","Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.",,"EFNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1947"">1947</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05463"">K05463</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536456"">C536456</a>
 OMIM: <a href=""https://www.omim.org/entry/304110"">304110</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23335590"">23335590</a>
 著者        Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO
 タイトル      Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
 雑誌        Hum Mol Genet 22:1654-62 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt015"">10.1093/hmg/ddt015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16143553"">16143553</a>
 著者        Wieacker P, Wieland I
 タイトル      Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
 雑誌        Mol Genet Metab 86:110-6 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2005.07.017"">10.1016/j.ymgme.2005.07.017</a>"
H01993,"バラー・ゲロルト症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:H00458]",,,Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family. The RECQL4 plays a role in the initiation of replication and in several DNA repair pathways.,先天奇形,,RECQL4 [HSA:9401] [KO:K10730],,,,,,"ICD-11: LD24.GY
 ICD-10: Q75.0
 MeSH: C536788
 OMIM: 218600","PMID:15964893
 著者        Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A
 タイトル      Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
 雑誌        J Med Genet 43:148-52 (2006)
 DOI:10.1136/jmg.2005.031781
 PMID:25966250
 著者        Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
 タイトル      Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.
 雑誌        Genet Mol Res 14:4757-66 (2015)
 DOI:10.4238/2015.May.11.8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01993"">H01993</a>","バラー・ゲロルト症候群
 上位グループ    症候性頭蓋縫合早期癒合症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00458"">H00458</a>]",Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family. The RECQL4 plays a role in the initiation of replication and in several DNA repair pathways.,,"RECQL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9401"">9401</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10730"">K10730</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q75.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536788"">C536788</a>
 OMIM: <a href=""https://www.omim.org/entry/218600"">218600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15964893"">15964893</a>
 著者        Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A
 タイトル      Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
 雑誌        J Med Genet 43:148-52 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.031781"">10.1136/jmg.2005.031781</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25966250"">25966250</a>
 著者        Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
 タイトル      Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.
 雑誌        Genet Mol Res 14:4757-66 (2015)
 DOI:<a href=""https://doi.org/10.4238/2015.May.11.8"">10.4238/2015.May.11.8</a>"
H01994,"ラフォラ病
 上位グループ    進行性ミオクローヌスてんかん [DS:H00810]",,,"Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.",神経系疾患,,"EPM2A [HSA:7957] [KO:K14165]
 NHLRC1 [HSA:378884] [KO:K10602]",,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: D020192
 OMIM: 254780","PMID:19267391
 著者        Singh S, Ganesh S
 タイトル      Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
 雑誌        Hum Mutat 30:715-23 (2009)
 DOI:10.1002/humu.20954
 PMID:16950819
 著者        Singh S, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S
 タイトル      Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
 雑誌        J Med Genet 43:e48 (2006)
 DOI:10.1136/jmg.2005.039479
 PMID:11175283
 著者        Gomez-Garre P, Sanz Y, Rodriguez De Cordoba SR, Serratosa JM
 タイトル      Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
 雑誌        Eur J Hum Genet 8:946-54 (2000)
 DOI:10.1038/sj.ejhg.5200571
 PMID:16311711
 著者        Ganesh S, Puri R, Singh S, Mittal S, Dubey D
 タイトル      Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
 雑誌        J Hum Genet 51:1-8 (2006)
 DOI:10.1007/s10038-005-0321-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01994"">H01994</a>","ラフォラ病
 上位グループ    進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]","Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.",,"EPM2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7957"">7957</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14165"">K14165</a>]
 NHLRC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:378884"">378884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10602"">K10602</a>]",,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020192"">D020192</a>
 OMIM: <a href=""https://www.omim.org/entry/254780"">254780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19267391"">19267391</a>
 著者        Singh S, Ganesh S
 タイトル      Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
 雑誌        Hum Mutat 30:715-23 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20954"">10.1002/humu.20954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16950819"">16950819</a>
 著者        Singh S, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S
 タイトル      Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
 雑誌        J Med Genet 43:e48 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.039479"">10.1136/jmg.2005.039479</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11175283"">11175283</a>
 著者        Gomez-Garre P, Sanz Y, Rodriguez De Cordoba SR, Serratosa JM
 タイトル      Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
 雑誌        Eur J Hum Genet 8:946-54 (2000)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200571"">10.1038/sj.ejhg.5200571</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16311711"">16311711</a>
 著者        Ganesh S, Puri R, Singh S, Mittal S, Dubey D
 タイトル      Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
 雑誌        J Hum Genet 51:1-8 (2006)
 DOI:<a href=""https://doi.org/10.1007/s10038-005-0321-1"">10.1007/s10038-005-0321-1</a>"
H01995,"Unverricht-Lundborg 病;
 進行性ミオクローヌスてんかん 1 型
 上位グループ    進行性ミオクローヌスてんかん [DS:H00810]",,,"Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. The mutations in the CSTB gene encoding cystatin B are responsible for this disease.",神経系疾患,,CSTB [HSA:1476] [KO:K13907],,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: D020194
 OMIM: 254800","PMID:8596935
 著者        Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM
 タイトル      Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
 雑誌        Science 271:1731-4 (1996)
 DOI:10.1126/science.271.5256.1731
 PMID:18325013
 著者        Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
 タイトル      Clinical picture of EPM1-Unverricht-Lundborg disease.
 雑誌        Epilepsia 49:549-56 (2008)
 DOI:10.1111/j.1528-1167.2008.01546.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01995"">H01995</a>","Unverricht-Lundborg 病;
 進行性ミオクローヌスてんかん 1 型
 上位グループ    進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]","Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. The mutations in the CSTB gene encoding cystatin B are responsible for this disease.",,"CSTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1476"">1476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13907"">K13907</a>]",,,,,,"ICD-11: 8A61.41
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020194"">D020194</a>
 OMIM: <a href=""https://www.omim.org/entry/254800"">254800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8596935"">8596935</a>
 著者        Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM
 タイトル      Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
 雑誌        Science 271:1731-4 (1996)
 DOI:<a href=""https://doi.org/10.1126/science.271.5256.1731"">10.1126/science.271.5256.1731</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18325013"">18325013</a>
 著者        Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
 タイトル      Clinical picture of EPM1-Unverricht-Lundborg disease.
 雑誌        Epilepsia 49:549-56 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2008.01546.x"">10.1111/j.1528-1167.2008.01546.x</a>"
H01996,"ピルビン酸脱水素酵素ホスファターゼ欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]",,,"Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 gene result in lactic acidemia, progressive neurodegeneration, and seizure activity, culminating in early death.",先天性代謝異常症,,PDP1 [HSA:54704] [KO:K01102],,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: C536258
 OMIM: 608782","PMID:16574315
 著者        Maj MC, Cameron JM, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
 雑誌        Mol Cell Endocrinol 249:1-9 (2006)
 DOI:10.1016/j.mce.2006.02.003
 PMID:19184109
 著者        Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
 雑誌        Hum Genet 125:319-26 (2009)
 DOI:10.1007/s00439-009-0629-6
 PMID:15855260
 著者        Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
 雑誌        J Clin Endocrinol Metab 90:4101-7 (2005)
 DOI:10.1210/jc.2005-0123","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01996"">H01996</a>","ピルビン酸脱水素酵素ホスファターゼ欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]","Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 gene result in lactic acidemia, progressive neurodegeneration, and seizure activity, culminating in early death.",,"PDP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54704"">54704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01102"">K01102</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536258"">C536258</a>
 OMIM: <a href=""https://www.omim.org/entry/608782"">608782</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16574315"">16574315</a>
 著者        Maj MC, Cameron JM, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
 雑誌        Mol Cell Endocrinol 249:1-9 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2006.02.003"">10.1016/j.mce.2006.02.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19184109"">19184109</a>
 著者        Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH
 タイトル      Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
 雑誌        Hum Genet 125:319-26 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00439-009-0629-6"">10.1007/s00439-009-0629-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15855260"">15855260</a>
 著者        Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM
 タイトル      Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
 雑誌        J Clin Endocrinol Metab 90:4101-7 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-0123"">10.1210/jc.2005-0123</a>"
H01997,"ピルビン酸脱水素酵素 E1α 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]",,,"Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.",先天性代謝異常症,,PDHA1 [HSA:5160] [KO:K00161],,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: C564071
 OMIM: 312170","PMID:9686362
 著者        De Meirleir L, Specola N, Seneca S, Lissens W
 タイトル      Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.
 雑誌        J Inherit Metab Dis 21:224-6 (1998)
 DOI:10.1023/A:100534750
 PMID:10679936
 著者        Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A
 タイトル      Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
 雑誌        Hum Mutat 15:209-19 (2000)
 DOI:10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
 PMID:7887408
 著者        Dahl HH
 タイトル      Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
 雑誌        Am J Hum Genet 56:553-7 (1995)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01997"">H01997</a>","ピルビン酸脱水素酵素 E1α 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]","Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.",,"PDHA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5160"">5160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00161"">K00161</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564071"">C564071</a>
 OMIM: <a href=""https://www.omim.org/entry/312170"">312170</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9686362"">9686362</a>
 著者        De Meirleir L, Specola N, Seneca S, Lissens W
 タイトル      Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.
 雑誌        J Inherit Metab Dis 21:224-6 (1998)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/100534750"">100534750</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10679936"">10679936</a>
 著者        Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A
 タイトル      Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
 雑誌        Hum Mutat 15:209-19 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200003)15:"">10.1002/(SICI)1098-1004(200003)15:</a><a href=""https://doi.org/3<209:"">3<209:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU1>3.0.CO;2-K"">AID-HUMU1>3.0.CO;2-K</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7887408"">7887408</a>
 著者        Dahl HH
 タイトル      Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
 雑誌        Am J Hum Genet 56:553-7 (1995)"
H01998,"ピルビン酸脱水素酵素 E1β 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]",,,"Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been reported. Primary defects in the E1 beta subunit of the PDH complex appear to be extremely rare.",先天性代謝異常症,,PDHB [HSA:5162] [KO:K00162],,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: C566729
 OMIM: 614111","PMID:15138885
 著者        Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK
 タイトル      Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
 雑誌        Hum Genet 115:123-7 (2004)
 DOI:10.1007/s00439-004-1124-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01998"">H01998</a>","ピルビン酸脱水素酵素 E1β 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]","Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been reported. Primary defects in the E1 beta subunit of the PDH complex appear to be extremely rare.",,"PDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5162"">5162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00162"">K00162</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566729"">C566729</a>
 OMIM: <a href=""https://www.omim.org/entry/614111"">614111</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15138885"">15138885</a>
 著者        Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK
 タイトル      Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
 雑誌        Hum Genet 115:123-7 (2004)
 DOI:<a href=""https://doi.org/10.1007/s00439-004-1124-8"">10.1007/s00439-004-1124-8</a>"
H01999,"ピルビン酸脱水素酵素 E2 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]",,,"Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have been described. Patients are less severely affected than typical patients with E1 mutations. Episodic dystonia was the major neurological manifestation.",先天性代謝異常症,,DLAT [HSA:1737] [KO:K00627],,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: C565448
 OMIM: 245348","PMID:16049940
 著者        Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK
 タイトル      Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
 雑誌        Ann Neurol 58:234-41 (2005)
 DOI:10.1002/ana.20550","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01999"">H01999</a>","ピルビン酸脱水素酵素 E2 欠損症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]","Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have been described. Patients are less severely affected than typical patients with E1 mutations. Episodic dystonia was the major neurological manifestation.",,"DLAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1737"">1737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00627"">K00627</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565448"">C565448</a>
 OMIM: <a href=""https://www.omim.org/entry/245348"">245348</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16049940"">16049940</a>
 著者        Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK
 タイトル      Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
 雑誌        Ann Neurol 58:234-41 (2005)
 DOI:<a href=""https://doi.org/10.1002/ana.20550"">10.1002/ana.20550</a>"
H02000,"ジヒドロリポアミド脱水素酵素欠損症;
 E3 欠損症;
 メープルシロップ尿症 III 型
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]
 メープルシロップ尿症 [DS:H00172]
 α ケトグルタル酸脱水素酵素複合体欠損症 [DS:H02006]
 TCA回路の異常 [DS:H01022]
 ミトコンドリア病 [DS:H01427]",,,"Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",DLD [HSA:1738] [KO:K00382],,,,,,"ICD-11: 5C53.02
 ICD-10: E71.0
 MeSH: C573012
 OMIM: 246900","PMID:27896107
 著者        Quinonez SC, Seeley AH, Seeterlin M, Stanley E, Ahmad A
 タイトル      Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
 雑誌        Mol Genet Metab Rep 1:345-349 (2014)
 DOI:10.1016/j.ymgmr.2014.07.007
 PMID:15712224
 著者        Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
 タイトル      A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
 雑誌        Hum Mutat 25:323-4 (2005)
 DOI:10.1002/humu.9319","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02000"">H02000</a>","ジヒドロリポアミド脱水素酵素欠損症;
 E3 欠損症;
 メープルシロップ尿症 III 型
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]
 メープルシロップ尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00172"">H00172</a>]
 α ケトグルタル酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02006"">H02006</a>]
 TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","DLD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1738"">1738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00382"">K00382</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E71.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C573012"">C573012</a>
 OMIM: <a href=""https://www.omim.org/entry/246900"">246900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27896107"">27896107</a>
 著者        Quinonez SC, Seeley AH, Seeterlin M, Stanley E, Ahmad A
 タイトル      Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
 雑誌        Mol Genet Metab Rep 1:345-349 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ymgmr.2014.07.007"">10.1016/j.ymgmr.2014.07.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15712224"">15712224</a>
 著者        Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
 タイトル      A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
 雑誌        Hum Mutat 25:323-4 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.9319"">10.1002/humu.9319</a>"
H02001,家族性偽高カリウム血症,,,"Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based abnormality in the transport of potassium across the red cell membrane. PSHK is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.",血液疾患,,"(PSHK1) PIEZO1 [HSA:9780] [KO:K22128]
 (PSHK2) ABCB6 [HSA:10058] [KO:K05661]",,,,,,"ICD-11: 3A10.3
 ICD-10: D58.8
 OMIM: 194380 609153","PMID:11918557
 著者        Gore DM, Chetty MC, Fisher J, Nicolaou A, Stewart GW
 タイトル      Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
 雑誌        Br J Haematol 117:212-4 (2002)
 DOI:10.1046/j.1365-2141.2002.03376.x
 PMID:23180570
 著者        Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A
 タイトル      Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.
 雑誌        Am J Hematol 88:66-72 (2013)
 DOI:10.1002/ajh.23357
 PMID:23479567
 著者        Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A
 タイトル      Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
 雑誌        Blood 121:3925-35, S1-12 (2013)
 DOI:10.1182/blood-2013-02-482489","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02001"">H02001</a>",家族性偽高カリウム血症,"Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based abnormality in the transport of potassium across the red cell membrane. PSHK is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.",,"(PSHK1) PIEZO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9780"">9780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22128"">K22128</a>]
 (PSHK2) ABCB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10058"">10058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05661"">K05661</a>]",,,,,,"ICD-11: 3A10.3
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/194380"">194380</a> <a href=""https://www.omim.org/entry/609153"">609153</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11918557"">11918557</a>
 著者        Gore DM, Chetty MC, Fisher J, Nicolaou A, Stewart GW
 タイトル      Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
 雑誌        Br J Haematol 117:212-4 (2002)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2141.2002.03376.x"">10.1046/j.1365-2141.2002.03376.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23180570"">23180570</a>
 著者        Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A
 タイトル      Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.
 雑誌        Am J Hematol 88:66-72 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajh.23357"">10.1002/ajh.23357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23479567"">23479567</a>
 著者        Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A
 タイトル      Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
 雑誌        Blood 121:3925-35, S1-12 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-02-482489"">10.1182/blood-2013-02-482489</a>"
H02002,Cryohydrocytosis,,,"Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability to sodium and potassium ions, which is particularly pronounced at 0 degrees Celsius.",血液疾患,,SLC4A1 [HSA:6521] [KO:K06573],,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: 185020","PMID:14296416
 著者        MILLER G, TOWNES PL, MACWHINNEY JB
 タイトル      A NEW CONGENITAL HEMOLYTIC ANEMIA WITH DEFORMED ERYTHROCYTES (""STOMATOCYTES"") AND REMARKABLE SUSCEPTIBILITY OF ERYTHROCYTES TO COLD HEMOLYSIS IN VITRO. I. CLINICAL AND HEMATOLOGIC STUDIES.
 雑誌        Pediatrics 35:906-15 (1965)
 PMID:10554820
 著者        Coles SE, Chetty MC, Ho MM, Nicolaou A, Kearney JW, Wright SD, Stewart GW
 タイトル      Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.
 雑誌        Br J Haematol 105:1055-65 (1999)
 DOI:10.1046/j.1365-2141.1999.01444.x
 PMID:20015879
 著者        Bogdanova A, Goede JS, Weiss E, Bogdanov N, Bennekou P, Bernhardt I, Lutz HU
 タイトル      Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
 雑誌        Haematologica 95:189-98 (2010)
 DOI:10.3324/haematol.2009.010215
 PMID:16227998
 著者        Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW
 タイトル      Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
 雑誌        Nat Genet 37:1258-63 (2005)
 DOI:10.1038/ng1656","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02002"">H02002</a>",Cryohydrocytosis,"Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability to sodium and potassium ions, which is particularly pronounced at 0 degrees Celsius.",,"SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]",,,,,,"ICD-11: 3A10.Y
 ICD-10: D58.8
 OMIM: <a href=""https://www.omim.org/entry/185020"">185020</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14296416"">14296416</a>
 著者        MILLER G, TOWNES PL, MACWHINNEY JB
 タイトル      A NEW CONGENITAL HEMOLYTIC ANEMIA WITH DEFORMED ERYTHROCYTES (""STOMATOCYTES"") AND REMARKABLE SUSCEPTIBILITY OF ERYTHROCYTES TO COLD HEMOLYSIS IN VITRO. I. CLINICAL AND HEMATOLOGIC STUDIES.
 雑誌        Pediatrics 35:906-15 (1965)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10554820"">10554820</a>
 著者        Coles SE, Chetty MC, Ho MM, Nicolaou A, Kearney JW, Wright SD, Stewart GW
 タイトル      Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.
 雑誌        Br J Haematol 105:1055-65 (1999)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2141.1999.01444.x"">10.1046/j.1365-2141.1999.01444.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20015879"">20015879</a>
 著者        Bogdanova A, Goede JS, Weiss E, Bogdanov N, Bennekou P, Bernhardt I, Lutz HU
 タイトル      Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
 雑誌        Haematologica 95:189-98 (2010)
 DOI:<a href=""https://doi.org/10.3324/haematol.2009.010215"">10.3324/haematol.2009.010215</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16227998"">16227998</a>
 著者        Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW
 タイトル      Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
 雑誌        Nat Genet 37:1258-63 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1656"">10.1038/ng1656</a>"
H02003,"ピルビン酸脱水素酵素 E3 結合タンパク欠損症;
 PDX1 欠損による乳酸血症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]",,,"Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association between the E2 core and the E3 enzyme. Primary defects of the E3BP appear to be a rare cause of pyruvate dehydrogenase deficiency.",先天性代謝異常症,,PDHX [HSA:8050] [KO:K13997],,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: C565447
 OMIM: 245349","PMID:9399911
 著者        Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
 タイトル      Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
 雑誌        Am J Hum Genet 61:1318-26 (1997)
 DOI:10.1086/301653
 PMID:11935326
 著者        Brown RM, Head RA, Brown GK
 タイトル      Pyruvate dehydrogenase E3 binding protein deficiency.
 雑誌        Hum Genet 110:187-91 (2002)
 DOI:10.1007/s00439-001-0665-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02003"">H02003</a>","ピルビン酸脱水素酵素 E3 結合タンパク欠損症;
 PDX1 欠損による乳酸血症
 上位グループ    ピルビン酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00072"">H00072</a>]","Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association between the E2 core and the E3 enzyme. Primary defects of the E3BP appear to be a rare cause of pyruvate dehydrogenase deficiency.",,"PDHX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8050"">8050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13997"">K13997</a>]",,,,,,"ICD-11: 5C53.02
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565447"">C565447</a>
 OMIM: <a href=""https://www.omim.org/entry/245349"">245349</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9399911"">9399911</a>
 著者        Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
 タイトル      Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
 雑誌        Am J Hum Genet 61:1318-26 (1997)
 DOI:<a href=""https://doi.org/10.1086/301653"">10.1086/301653</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11935326"">11935326</a>
 著者        Brown RM, Head RA, Brown GK
 タイトル      Pyruvate dehydrogenase E3 binding protein deficiency.
 雑誌        Hum Genet 110:187-91 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-001-0665-3"">10.1007/s00439-001-0665-3</a>"
H02004,"フマラーゼ欠損症;
 フマル酸尿症
 上位グループ    TCA回路の異常 [DS:H01022]
 ミトコンドリア病 [DS:H01427]",,,"Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Patients usually present early in infancy with a severe encephalopathy, including hypotonia, developmental retardation, and seizures. Many of them have died during the first several years of life.",先天性代謝異常症,,FH [HSA:2271] [KO:K01679],,,,,,"ICD-11: 5C53.1
 ICD-10: E88.8
 MeSH: C538191
 OMIM: 606812","PMID:8200987
 著者        Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P
 タイトル      Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
 雑誌        J Clin Invest 93:2514-8 (1994)
 DOI:10.1172/JCI117261
 PMID:10805328
 著者        Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA
 タイトル      Fumaric aciduria: clinical and imaging features.
 雑誌        Ann Neurol 47:583-8 (2000)
 DOI:10.1002/1531-8249(200005)47:5<583::AID-ANA5>3.0.CO;2-Y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02004"">H02004</a>","フマラーゼ欠損症;
 フマル酸尿症
 上位グループ    TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Patients usually present early in infancy with a severe encephalopathy, including hypotonia, developmental retardation, and seizures. Many of them have died during the first several years of life.",,"FH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]",,,,,,"ICD-11: 5C53.1
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538191"">C538191</a>
 OMIM: <a href=""https://www.omim.org/entry/606812"">606812</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8200987"">8200987</a>
 著者        Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P
 タイトル      Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
 雑誌        J Clin Invest 93:2514-8 (1994)
 DOI:<a href=""https://doi.org/10.1172/JCI117261"">10.1172/JCI117261</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10805328"">10805328</a>
 著者        Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA
 タイトル      Fumaric aciduria: clinical and imaging features.
 雑誌        Ann Neurol 47:583-8 (2000)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(200005)47:"">10.1002/1531-8249(200005)47:</a><a href=""https://doi.org/5<583:"">5<583:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-ANA5>3.0.CO;2-Y"">AID-ANA5>3.0.CO;2-Y</a>"
H02005,"ミトコンドリア複合体 II 欠損症;
 コハク酸脱水素酵素欠損症;
 コハク酸CoQ還元酵素欠損症
 上位グループ    TCA回路の異常 [DS:H01022]
 ミトコンドリア病 [DS:H01427]
 ミトコンドリア病 [DS:H01427]",,,"Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport chain (ETC). Four structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded. Mutations in SDHA, SDHD, and SDHAF1 have been found in patients. CII deficiency has a variable phenotype. Brain imaging is abnormal in majority of the patients and consists of leukoencephalopathy, Leigh syndrome or cerebellar atrophy.",先天性代謝異常症; ミトコンドリア病,,"(MC2DN1) SDHA [HSA:6389] [KO:K00234]
 (MC2DN2) SDHAF1 [HSA:644096] [KO:K18167]
 (MC2DN3) SDHD [HSA:6392] [KO:K00237]
 (MC2DN4) SDHB [HSA:6390] [KO:K00235]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.4
 MeSH: C565375
 OMIM: 252011 619166 619167 619224","PMID:23322652
 著者        Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J
 タイトル      Complex II deficiency--a case report and review of the literature.
 雑誌        Am J Med Genet A 161A:285-94 (2013)
 DOI:10.1002/ajmg.a.35714
 PMID:22972948 (SDHA SDHB)
 著者        Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
 タイトル      Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
 雑誌        J Med Genet 49:569-77 (2012)
 DOI:10.1136/jmedgenet-2012-101146
 PMID:19465911 (SDHAF1)
 著者        Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M
 タイトル      SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
 雑誌        Nat Genet 41:654-6 (2009)
 DOI:10.1038/ng.378
 PMID:24367056 (SDHD)
 著者        Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
 タイトル      Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
 雑誌        J Med Genet 51:170-5 (2014)
 DOI:10.1136/jmedgenet-2013-101932","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02005"">H02005</a>","ミトコンドリア複合体 II 欠損症;
 コハク酸脱水素酵素欠損症;
 コハク酸CoQ還元酵素欠損症
 上位グループ    TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport chain (ETC). Four structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded. Mutations in SDHA, SDHD, and SDHAF1 have been found in patients. CII deficiency has a variable phenotype. Brain imaging is abnormal in majority of the patients and consists of leukoencephalopathy, Leigh syndrome or cerebellar atrophy.",,"(MC2DN1) SDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6389"">6389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00234"">K00234</a>]
 (MC2DN2) SDHAF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:644096"">644096</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18167"">K18167</a>]
 (MC2DN3) SDHD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6392"">6392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00237"">K00237</a>]
 (MC2DN4) SDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6390"">6390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00235"">K00235</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565375"">C565375</a>
 OMIM: <a href=""https://www.omim.org/entry/252011"">252011</a> <a href=""https://www.omim.org/entry/619166"">619166</a> <a href=""https://www.omim.org/entry/619167"">619167</a> <a href=""https://www.omim.org/entry/619224"">619224</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23322652"">23322652</a>
 著者        Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J
 タイトル      Complex II deficiency--a case report and review of the literature.
 雑誌        Am J Med Genet A 161A:285-94 (2013)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35714"">10.1002/ajmg.a.35714</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22972948"">22972948</a> (SDHA <a href=""https://pubmed.ncbi.nlm.nih.gov/SDHB)"">SDHB)</a>
 著者        Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
 タイトル      Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
 雑誌        J Med Genet 49:569-77 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101146"">10.1136/jmedgenet-2012-101146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19465911"">19465911</a> (SDHAF1)
 著者        Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M
 タイトル      SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
 雑誌        Nat Genet 41:654-6 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.378"">10.1038/ng.378</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24367056"">24367056</a> (SDHD)
 著者        Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
 タイトル      Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
 雑誌        J Med Genet 51:170-5 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101932"">10.1136/jmedgenet-2013-101932</a>"
H02006,"α ケトグルタル酸脱水素酵素複合体欠損症
 下位グループ    ジヒドロリポアミド脱水素酵素欠損症 [DS:H02000]
 Yoon-Bellen 神経発達症候群 [DS:H02562]
 上位グループ    TCA回路の異常 [DS:H01022]
 ミトコンドリア病 [DS:H01427]",,,"The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC is mitochondrial enzyme complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex and branched-chain ketoacid dehydrogenase complex. It has also been reported that reductions in the KGDHC occur in a number of neurodegenerative disorders including Alzheimer's disease.",先天性代謝異常症; ミトコンドリア病,,"OGDH [HSA:4967] [KO:K00164]
 DLD [HSA:1738] [KO:K00382]",,,,,,"ICD-11: 5C53.1
 ICD-10: E88.4
 MeSH: C536582
 OMIM: 203740 246900","PMID:15712224
 著者        Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
 タイトル      A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
 雑誌        Hum Mutat 25:323-4 (2005)
 DOI:10.1002/humu.9319
 PMID:10676873
 著者        Gibson GE, Park LC, Sheu KF, Blass JP, Calingasan NY
 タイトル      The alpha-ketoglutarate dehydrogenase complex in neurodegeneration.
 雑誌        Neurochem Int 36:97-112 (2000)
 DOI:10.1016/S0197-0186(99)00114-X
 PMID:8295396
 著者        Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P
 タイトル      2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
 雑誌        J Inherit Metab Dis 16:821-30 (1993)
 DOI:10.1007/BF00714273","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02006"">H02006</a>","α ケトグルタル酸脱水素酵素複合体欠損症
 下位グループ    ジヒドロリポアミド脱水素酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02000"">H02000</a>]
 Yoon-Bellen 神経発達症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02562"">H02562</a>]
 上位グループ    TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC is mitochondrial enzyme complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit, encoded by DLD, is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex and branched-chain ketoacid dehydrogenase complex. It has also been reported that reductions in the KGDHC occur in a number of neurodegenerative disorders including Alzheimer's disease.",,"OGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4967"">4967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00164"">K00164</a>]
 DLD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1738"">1738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00382"">K00382</a>]",,,,,,"ICD-11: 5C53.1
 ICD-10: E88.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536582"">C536582</a>
 OMIM: <a href=""https://www.omim.org/entry/203740"">203740</a> <a href=""https://www.omim.org/entry/246900"">246900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15712224"">15712224</a>
 著者        Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
 タイトル      A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
 雑誌        Hum Mutat 25:323-4 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.9319"">10.1002/humu.9319</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10676873"">10676873</a>
 著者        Gibson GE, Park LC, Sheu KF, Blass JP, Calingasan NY
 タイトル      The alpha-ketoglutarate dehydrogenase complex in neurodegeneration.
 雑誌        Neurochem Int 36:97-112 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0197-0186(99)00114-X"">10.1016/S0197-0186(99)00114-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8295396"">8295396</a>
 著者        Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P
 タイトル      2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
 雑誌        J Inherit Metab Dis 16:821-30 (1993)
 DOI:<a href=""https://doi.org/10.1007/BF00714273"">10.1007/BF00714273</a>"
H02007,"GRACILE 症候群;
 Fellman 症候群;
 フィンランド型致死性新生児代謝症候群
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.",先天代謝異常症; ミトコンドリア病,,BCS1L [HSA:617] [KO:K08900],,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: C537934
 OMIM: 603358","PMID:24655110
 著者        Kasapkara CS, Tumer L, Ezgu FS, Kucukcongar A, Hasanoglu A
 タイトル      BCS1L gene mutation causing GRACILE syndrome: case report.
 雑誌        Ren Fail 36:953-4 (2014)
 DOI:10.3109/0886022X.2014.900422
 PMID:9482441
 著者        Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO
 タイトル      Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.
 雑誌        Lancet 351:490-3 (1998)
 DOI:10.1016/S0140-6736(97)09272-6
 PMID:12215968
 著者        Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L
 タイトル      GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
 雑誌        Am J Hum Genet 71:863-76 (2002)
 DOI:10.1086/342773","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02007"">H02007</a>","GRACILE 症候群;
 Fellman 症候群;
 フィンランド型致死性新生児代謝症候群
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.",,"BCS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:617"">617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08900"">K08900</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537934"">C537934</a>
 OMIM: <a href=""https://www.omim.org/entry/603358"">603358</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24655110"">24655110</a>
 著者        Kasapkara CS, Tumer L, Ezgu FS, Kucukcongar A, Hasanoglu A
 タイトル      BCS1L gene mutation causing GRACILE syndrome: case report.
 雑誌        Ren Fail 36:953-4 (2014)
 DOI:<a href=""https://doi.org/10.3109/0886022X.2014.900422"">10.3109/0886022X.2014.900422</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9482441"">9482441</a>
 著者        Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO
 タイトル      Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.
 雑誌        Lancet 351:490-3 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(97)09272-6"">10.1016/S0140-6736(97)09272-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12215968"">12215968</a>
 著者        Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L
 タイトル      GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
 雑誌        Am J Hum Genet 71:863-76 (2002)
 DOI:<a href=""https://doi.org/10.1086/342773"">10.1086/342773</a>"
H02008,"ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症;
 古典型ガラクトース血症;
 ガラクトース血症 I 型
 上位グループ    ガラクトース血症 [DS:H00070]",,,"Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop a pathology that includes failure to thrive, vomiting, jaundice, and sometimes bacterial infection. In the long term, disabilities in learning, speech, ovarian function, and movement can manifest.",先天性代謝異常症,nt06023  Galactose degradation,GALT [HSA:2592] [KO:K00965],,,,,,"ICD-11: 5C51.40
 ICD-10: E74.2
 MeSH: D005693
 OMIM: 230400","PMID:11152465
 著者        Riehman K, Crews C, Fridovich-Keil JL
 タイトル      Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
 雑誌        J Biol Chem 276:10634-40 (2001)
 DOI:10.1074/jbc.M009583200
 PMID:21960482
 著者        McCorvie TJ, Timson DJ
 タイトル      Structural and molecular biology of type I galactosemia: disease-associated mutations.
 雑誌        IUBMB Life 63:949-54 (2011)
 DOI:10.1002/iub.510
 PMID:8943248
 著者        Elsevier JP, Fridovich-Keil JL
 タイトル      The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
 雑誌        J Biol Chem 271:32002-7 (1996)
 DOI:10.1074/jbc.271.50.32002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02008"">H02008</a>","ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症;
 古典型ガラクトース血症;
 ガラクトース血症 I 型
 上位グループ    ガラクトース血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00070"">H00070</a>]","Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop a pathology that includes failure to thrive, vomiting, jaundice, and sometimes bacterial infection. In the long term, disabilities in learning, speech, ovarian function, and movement can manifest.","<a href=""https://www.kegg.jp/network/nt06023"">nt06023</a>  Galactose degradation","GALT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2592"">2592</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00965"">K00965</a>]",,,,,,"ICD-11: 5C51.40
 ICD-10: E74.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005693"">D005693</a>
 OMIM: <a href=""https://www.omim.org/entry/230400"">230400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11152465"">11152465</a>
 著者        Riehman K, Crews C, Fridovich-Keil JL
 タイトル      Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
 雑誌        J Biol Chem 276:10634-40 (2001)
 DOI:<a href=""https://doi.org/10.1074/jbc.M009583200"">10.1074/jbc.M009583200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21960482"">21960482</a>
 著者        McCorvie TJ, Timson DJ
 タイトル      Structural and molecular biology of type I galactosemia: disease-associated mutations.
 雑誌        IUBMB Life 63:949-54 (2011)
 DOI:<a href=""https://doi.org/10.1002/iub.510"">10.1002/iub.510</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8943248"">8943248</a>
 著者        Elsevier JP, Fridovich-Keil JL
 タイトル      The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
 雑誌        J Biol Chem 271:32002-7 (1996)
 DOI:<a href=""https://doi.org/10.1074/jbc.271.50.32002"">10.1074/jbc.271.50.32002</a>"
H02009,"ガラクトキナーゼ欠損症;
 ガラクトース血症 II 型
 上位グループ    ガラクトース血症 [DS:H00070]",,,"Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the eye is converted in galactitol and causes ultimately cataracts. The condition can be treated by removal of galactose and lactose from the diet.",先天性代謝異常症,nt06023  Galactose degradation,GALK1 [HSA:2584] [KO:K00849],,,,,,"ICD-11: 5C51.41
 ICD-10: E74.2
 MeSH: D005693
 OMIM: 230200","PMID:10570908
 著者        Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G
 タイトル      Molecular characterization of galactokinase deficiency in Japanese patients.
 雑誌        J Hum Genet 44:377-82 (1999)
 DOI:10.1007/s100380050182
 PMID:15024738
 著者        Sangiuolo F, Magnani M, Stambolian D, Novelli G
 タイトル      Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
 雑誌        Hum Mutat 23:396 (2004)
 DOI:10.1002/humu.9223
 PMID:10790206
 著者        Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D
 タイトル      Novel mutations in 13 probands with galactokinase deficiency.
 雑誌        Hum Mutat 15:447-53 (2000)
 DOI:10.1002/(SICI)1098-1004(200005)15:5&lt;447::AID-HUMU6&gt;3.0.CO;2-M","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02009"">H02009</a>","ガラクトキナーゼ欠損症;
 ガラクトース血症 II 型
 上位グループ    ガラクトース血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00070"">H00070</a>]","Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the eye is converted in galactitol and causes ultimately cataracts. The condition can be treated by removal of galactose and lactose from the diet.","<a href=""https://www.kegg.jp/network/nt06023"">nt06023</a>  Galactose degradation","GALK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2584"">2584</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00849"">K00849</a>]",,,,,,"ICD-11: 5C51.41
 ICD-10: E74.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005693"">D005693</a>
 OMIM: <a href=""https://www.omim.org/entry/230200"">230200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10570908"">10570908</a>
 著者        Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G
 タイトル      Molecular characterization of galactokinase deficiency in Japanese patients.
 雑誌        J Hum Genet 44:377-82 (1999)
 DOI:<a href=""https://doi.org/10.1007/s100380050182"">10.1007/s100380050182</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15024738"">15024738</a>
 著者        Sangiuolo F, Magnani M, Stambolian D, Novelli G
 タイトル      Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
 雑誌        Hum Mutat 23:396 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.9223"">10.1002/humu.9223</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10790206"">10790206</a>
 著者        Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D
 タイトル      Novel mutations in 13 probands with galactokinase deficiency.
 雑誌        Hum Mutat 15:447-53 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1098-1004(200005)15:"">10.1002/(SICI)1098-1004(200005)15:</a><a href=""https://doi.org/5&lt;447:"">5&lt;447:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU6&gt;3.0.CO;2-M"">AID-HUMU6&gt;3.0.CO;2-M</a>"
H02010,"ガラクトースエピメラーゼ欠損症;
 ガラクトース血症 III 型
 上位グループ    ガラクトース血症 [DS:H00070]",,,"Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed ""peripheral type"" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed ""generalized type"".",先天性代謝異常症,nt06023  Galactose degradation,GALE [HSA:2582] [KO:K01784],,,,,,"ICD-11: 5C51.4Y
 ICD-10: E74.2
 MeSH: D005693
 OMIM: 230350","PMID:9326324
 著者        Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL
 タイトル      Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
 雑誌        Am J Hum Genet 61:590-8 (1997)
 DOI:10.1086/515517
 PMID:22613355
 著者        McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ
 タイトル      Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
 雑誌        Biochim Biophys Acta 1822:1516-26 (2012)
 DOI:10.1016/j.bbadis.2012.05.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02010"">H02010</a>","ガラクトースエピメラーゼ欠損症;
 ガラクトース血症 III 型
 上位グループ    ガラクトース血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00070"">H00070</a>]","Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed ""peripheral type"" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed ""generalized type"".","<a href=""https://www.kegg.jp/network/nt06023"">nt06023</a>  Galactose degradation","GALE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2582"">2582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01784"">K01784</a>]",,,,,,"ICD-11: 5C51.4Y
 ICD-10: E74.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005693"">D005693</a>
 OMIM: <a href=""https://www.omim.org/entry/230350"">230350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9326324"">9326324</a>
 著者        Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL
 タイトル      Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
 雑誌        Am J Hum Genet 61:590-8 (1997)
 DOI:<a href=""https://doi.org/10.1086/515517"">10.1086/515517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22613355"">22613355</a>
 著者        McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ
 タイトル      Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
 雑誌        Biochim Biophys Acta 1822:1516-26 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2012.05.007"">10.1016/j.bbadis.2012.05.007</a>"
H02011,"家族性若年性高尿酸血症性腎症
 上位グループ    常染色体優性遺伝性尿細管間質性腎疾患 [DS:H00541]",,,"Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA), defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and FJHN is encompassed by it.",腎疾患,,"(HNFJ1) UMOD [HSA:7369] [KO:K18274]
 (HNFJ2) REN [HSA:5972] [KO:K01380]
 (HNFJ4) SEC61A1 [HSA:29927] [KO:K10956]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.0
 OMIM: 162000 613092 617056","PMID:20976470
 著者        Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Muller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV
 タイトル      Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
 雑誌        Hum Genet 129:51-8 (2011)
 DOI:10.1007/s00439-010-0897-1
 PMID:27392076
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:10.1016/j.ajhg.2016.05.028
 PMID:12471200
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:10.1136/jmg.39.12.882
 PMID:19664745
 著者        Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
 タイトル      Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
 雑誌        Am J Hum Genet 85:204-13 (2009)
 DOI:10.1016/j.ajhg.2009.07.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02011"">H02011</a>","家族性若年性高尿酸血症性腎症
 上位グループ    常染色体優性遺伝性尿細管間質性腎疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00541"">H00541</a>]","Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA), defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and FJHN is encompassed by it.",,"(HNFJ1) UMOD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7369"">7369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18274"">K18274</a>]
 (HNFJ2) REN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5972"">5972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01380"">K01380</a>]
 (HNFJ4) SEC61A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29927"">29927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10956"">K10956</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: E79.0
 OMIM: <a href=""https://www.omim.org/entry/162000"">162000</a> <a href=""https://www.omim.org/entry/613092"">613092</a> <a href=""https://www.omim.org/entry/617056"">617056</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20976470"">20976470</a>
 著者        Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Muller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV
 タイトル      Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
 雑誌        Hum Genet 129:51-8 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00439-010-0897-1"">10.1007/s00439-010-0897-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27392076"">27392076</a>
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.028"">10.1016/j.ajhg.2016.05.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12471200"">12471200</a>
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.12.882"">10.1136/jmg.39.12.882</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19664745"">19664745</a>
 著者        Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
 タイトル      Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
 雑誌        Am J Hum Genet 85:204-13 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.07.010"">10.1016/j.ajhg.2009.07.010</a>"
H02012,"髄質性嚢胞腎
 上位グループ    常染色体優性遺伝性尿細管間質性腎疾患 [DS:H00541]",,,"Medullary cystic kidney disease (MCKD) is an autosomal dominant tubulointerstitial nephropathy that causes renal salt wasting and end-stage kidney disease (ESKD). Two types of MCKD are recognized (MCKD1 and MCKD2) according to the responsible genes and the onset of ESKD. MUC1 gene for MCKD1 and UMOD gene for MCKD2 have been identified as causative genes. The timing of the onset of ESKD is during the fifth to sixth decades of life in MCKD1 and about the third decade in MCKD2. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and MCKD is encompassed by it.",先天奇形,,"(MCKD1) MUC1 [HSA:4582] [KO:K06568]
 (MCKD2) UMOD [HSA:7369] [KO:K18274]",,,,,,"ICD-11: GB82
 ICD-10: Q61.5
 OMIM: 174000 603860","PMID:25818408
 著者        Suzuki T, Iyoda M, Yamaguchi Y, Shibata T
 タイトル      A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy.
 雑誌        Pathol Int 65:379-82 (2015)
 DOI:10.1111/pin.12292
 PMID:15253709
 著者        Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F
 タイトル      Telomeric refinement of the MCKD1 locus on chromosome 1q21.
 雑誌        Kidney Int 66:580-5 (2004)
 DOI:10.1111/j.1523-1755.2004.00799.x
 PMID:27392076
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:10.1016/j.ajhg.2016.05.028
 PMID:23396133
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:10.1038/ng.2543
 PMID:12471200
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:10.1136/jmg.39.12.882","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02012"">H02012</a>","髄質性嚢胞腎
 上位グループ    常染色体優性遺伝性尿細管間質性腎疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00541"">H00541</a>]","Medullary cystic kidney disease (MCKD) is an autosomal dominant tubulointerstitial nephropathy that causes renal salt wasting and end-stage kidney disease (ESKD). Two types of MCKD are recognized (MCKD1 and MCKD2) according to the responsible genes and the onset of ESKD. MUC1 gene for MCKD1 and UMOD gene for MCKD2 have been identified as causative genes. The timing of the onset of ESKD is during the fifth to sixth decades of life in MCKD1 and about the third decade in MCKD2. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and MCKD is encompassed by it.",,"(MCKD1) MUC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4582"">4582</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06568"">K06568</a>]
 (MCKD2) UMOD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7369"">7369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18274"">K18274</a>]",,,,,,"ICD-11: GB82
 ICD-10: Q61.5
 OMIM: <a href=""https://www.omim.org/entry/174000"">174000</a> <a href=""https://www.omim.org/entry/603860"">603860</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25818408"">25818408</a>
 著者        Suzuki T, Iyoda M, Yamaguchi Y, Shibata T
 タイトル      A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy.
 雑誌        Pathol Int 65:379-82 (2015)
 DOI:<a href=""https://doi.org/10.1111/pin.12292"">10.1111/pin.12292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15253709"">15253709</a>
 著者        Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F
 タイトル      Telomeric refinement of the MCKD1 locus on chromosome 1q21.
 雑誌        Kidney Int 66:580-5 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1523-1755.2004.00799.x"">10.1111/j.1523-1755.2004.00799.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27392076"">27392076</a>
 著者        Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
 タイトル      Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
 雑誌        Am J Hum Genet 99:174-87 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.028"">10.1016/j.ajhg.2016.05.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23396133"">23396133</a>
 著者        Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ
 タイトル      Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
 雑誌        Nat Genet 45:299-303 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2543"">10.1038/ng.2543</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12471200"">12471200</a>
 著者        Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
 タイトル      Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
 雑誌        J Med Genet 39:882-92 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.12.882"">10.1136/jmg.39.12.882</a>"
H02013,"グリセロールキナーゼ欠損症
 上位グループ    Xp21欠失症候群 [DS:H00552]",,,"Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.",先天性代謝異常症,,GK [HSA:2710] [KO:K00864],,,,,,"ICD-11: 5C51.1
 ICD-10: E74.8
 MeSH: D000075262
 OMIM: 307030","PMID:11032329
 著者        Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
 タイトル      Isolated and contiguous glycerol kinase gene disorders: a review.
 雑誌        J Inherit Metab Dis 23:529-47 (2000)
 DOI:10.1023/A:1005660826652
 PMID:9302256
 著者        Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ
 タイトル      X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
 雑誌        Hum Mol Genet 6:1803-9 (1997)
 DOI:10.1093/hmg/6.11.1803
 PMID:8651297
 著者        Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP
 タイトル      Mutations and phenotype in isolated glycerol kinase deficiency.
 雑誌        Am J Hum Genet 58:1205-11 (1996)
 PMID:9719371
 著者        Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT
 タイトル      Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
 雑誌        J Med Genet 35:650-6 (1998)
 DOI:10.1136/jmg.35.8.650","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02013"">H02013</a>","グリセロールキナーゼ欠損症
 上位グループ    Xp21欠失症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00552"">H00552</a>]","Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.",,"GK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2710"">2710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00864"">K00864</a>]",,,,,,"ICD-11: 5C51.1
 ICD-10: E74.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000075262"">D000075262</a>
 OMIM: <a href=""https://www.omim.org/entry/307030"">307030</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11032329"">11032329</a>
 著者        Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
 タイトル      Isolated and contiguous glycerol kinase gene disorders: a review.
 雑誌        J Inherit Metab Dis 23:529-47 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005660826652"">1005660826652</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9302256"">9302256</a>
 著者        Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ
 タイトル      X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
 雑誌        Hum Mol Genet 6:1803-9 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.11.1803"">10.1093/hmg/6.11.1803</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8651297"">8651297</a>
 著者        Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP
 タイトル      Mutations and phenotype in isolated glycerol kinase deficiency.
 雑誌        Am J Hum Genet 58:1205-11 (1996)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9719371"">9719371</a>
 著者        Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT
 タイトル      Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
 雑誌        J Med Genet 35:650-6 (1998)
 DOI:<a href=""https://doi.org/10.1136/jmg.35.8.650"">10.1136/jmg.35.8.650</a>"
H02014,"毛細血管拡張性運動失調様症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as a double-strand break sensor and recruits ATM to broken DNA molecules. The clinical features include the progressive cerebellar ataxia, and they are very similar to those of Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported.",神経変性疾患,,"(ATLD1) MRE11A [HSA:4361] [KO:K10865]
 (ATLD2) PCNA [HSA:5111] [KO:K04802]",,,,,,"ICD-11: 4A01.31
 ICD-10: G11.3
 MeSH: C565779
 OMIM: 604391 615919","PMID:15279810
 著者        Taylor AM, Groom A, Byrd PJ
 タイトル      Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
 雑誌        DNA Repair (Amst) 3:1219-25 (2004)
 DOI:10.1016/j.dnarep.2004.04.009
 PMID:10612394 (ATLD1)
 著者        Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM
 タイトル      The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
 雑誌        Cell 99:577-87 (1999)
 DOI:10.1016/S0092-8674(00)81547-0
 PMID:15269180 (ATLD1)
 著者        Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L
 タイトル      MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
 雑誌        Hum Mol Genet 13:2155-63 (2004)
 DOI:10.1093/hmg/ddh221
 PMID:24911150 (ATLD2)
 著者        Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH
 タイトル      Hypomorphic PCNA mutation underlies a human DNA repair disorder.
 雑誌        J Clin Invest 124:3137-46 (2014)
 DOI:10.1172/JCI74593","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02014"">H02014</a>","毛細血管拡張性運動失調様症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as a double-strand break sensor and recruits ATM to broken DNA molecules. The clinical features include the progressive cerebellar ataxia, and they are very similar to those of Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported.",,"(ATLD1) MRE11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4361"">4361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10865"">K10865</a>]
 (ATLD2) PCNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5111"">5111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04802"">K04802</a>]",,,,,,"ICD-11: 4A01.31
 ICD-10: G11.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565779"">C565779</a>
 OMIM: <a href=""https://www.omim.org/entry/604391"">604391</a> <a href=""https://www.omim.org/entry/615919"">615919</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15279810"">15279810</a>
 著者        Taylor AM, Groom A, Byrd PJ
 タイトル      Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
 雑誌        DNA Repair (Amst) 3:1219-25 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.dnarep.2004.04.009"">10.1016/j.dnarep.2004.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10612394"">10612394</a> (ATLD1)
 著者        Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM
 タイトル      The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
 雑誌        Cell 99:577-87 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0092-8674(00)81547-0"">10.1016/S0092-8674(00)81547-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15269180"">15269180</a> (ATLD1)
 著者        Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L
 タイトル      MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
 雑誌        Hum Mol Genet 13:2155-63 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh221"">10.1093/hmg/ddh221</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24911150"">24911150</a> (ATLD2)
 著者        Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH
 タイトル      Hypomorphic PCNA mutation underlies a human DNA repair disorder.
 雑誌        J Clin Invest 124:3137-46 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI74593"">10.1172/JCI74593</a>"
H02015,"LIG4 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.",免疫系疾患,,LIG4 [HSA:3981] [KO:K10777],,,,,Disorder of DNA repair system,"ICD-11: 4A01.1Y
 ICD-10: D81.1
 OMIM: 606593","PMID:16088910
 著者        Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM
 タイトル      A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
 雑誌        Am J Med Genet A 137A:283-7 (2005)
 DOI:10.1002/ajmg.a.30869","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02015"">H02015</a>","LIG4 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.",,"LIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3981"">3981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10777"">K10777</a>]",,,,,Disorder of DNA repair system,"ICD-11: 4A01.1Y
 ICD-10: D81.1
 OMIM: <a href=""https://www.omim.org/entry/606593"">606593</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16088910"">16088910</a>
 著者        Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM
 タイトル      A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
 雑誌        Am J Med Genet A 137A:283-7 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30869"">10.1002/ajmg.a.30869</a>"
H02016,"テイ・サックス病;
 GM2 ガングリオシドーシス I 型
 上位グループ    GM2 ガングリオシドーシス [DS:H00124]
 ガングリオシドーシス [DS:H00426]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. Patients with infantile Tay-Sachs disease die before the age of five, whereas patients with the juvenile and adult forms have a delayed onset.",先天性代謝異常症; リソソーム蓄積症,,HEXA [HSA:3073] [KO:K12373],,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: D013661
 OMIM: 272800","PMID:2355960
 著者        Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA
 タイトル      Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
 雑誌        N Engl J Med 323:6-12 (1990)
 DOI:10.1056/NEJM199007053230102
 PMID:9150157
 著者        Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA
 タイトル      Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
 雑誌        Am J Hum Genet 60:1099-106 (1997)
 PMID:2137287
 著者        Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K
 タイトル      GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
 雑誌        Am J Hum Genet 46:329-39 (1990)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02016"">H02016</a>","テイ・サックス病;
 GM2 ガングリオシドーシス I 型
 上位グループ    GM2 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00124"">H00124</a>]
 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. Patients with infantile Tay-Sachs disease die before the age of five, whereas patients with the juvenile and adult forms have a delayed onset.",,"HEXA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3073"">3073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]",,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013661"">D013661</a>
 OMIM: <a href=""https://www.omim.org/entry/272800"">272800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2355960"">2355960</a>
 著者        Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA
 タイトル      Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
 雑誌        N Engl J Med 323:6-12 (1990)
 DOI:<a href=""https://doi.org/10.1056/NEJM199007053230102"">10.1056/NEJM199007053230102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9150157"">9150157</a>
 著者        Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA
 タイトル      Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
 雑誌        Am J Hum Genet 60:1099-106 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2137287"">2137287</a>
 著者        Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K
 タイトル      GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
 雑誌        Am J Hum Genet 46:329-39 (1990)"
H02017,"サンドホフ病;
 GM2 ガングリオシドーシス II 型
 上位グループ    GM2 ガングリオシドーシス [DS:H00124]
 ガングリオシドーシス [DS:H00426]
 スフィンゴリピドーシス [DS:H00423]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency of hexosaminidase A (HexA) and hexosaminidase B (HexB) activities. GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. The severe form is characterized by an early age of onset and a rapidly progressive clinical course leading to death in early childhood, whereas the juvenile and adult forms start later and generally manifest a less severe course.",先天性代謝異常症; リソソーム蓄積症,,HEXB [HSA:3074] [KO:K12373],,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: D012497
 OMIM: 268800","PMID:8357844
 著者        Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM
 タイトル      Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in  a labile enzyme.
 雑誌        Biochim Biophys Acta 1182:142-6 (1993)
 DOI:10.1016/0925-4439(93)90134-M
 PMID:18758829
 著者        Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A
 タイトル      Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
 雑誌        Neurogenetics 10:49-58 (2009)
 DOI:10.1007/s10048-008-0145-1
 PMID:22789865
 著者        Gort L, de Olano N, Macias-Vidal J, Coll MA
 タイトル      GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
 雑誌        Gene 506:25-30 (2012)
 DOI:10.1016/j.gene.2012.06.080","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02017"">H02017</a>","サンドホフ病;
 GM2 ガングリオシドーシス II 型
 上位グループ    GM2 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00124"">H00124</a>]
 ガングリオシドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00426"">H00426</a>]
 スフィンゴリピドーシス [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00423"">H00423</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency of hexosaminidase A (HexA) and hexosaminidase B (HexB) activities. GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. The severe form is characterized by an early age of onset and a rapidly progressive clinical course leading to death in early childhood, whereas the juvenile and adult forms start later and generally manifest a less severe course.",,"HEXB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3074"">3074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12373"">K12373</a>]",,,,,,"ICD-11: 5C56.00
 ICD-10: E75.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012497"">D012497</a>
 OMIM: <a href=""https://www.omim.org/entry/268800"">268800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8357844"">8357844</a>
 著者        Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM
 タイトル      Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in  a labile enzyme.
 雑誌        Biochim Biophys Acta 1182:142-6 (1993)
 DOI:<a href=""https://doi.org/10.1016/0925-4439(93)90134-M"">10.1016/0925-4439(93)90134-M</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18758829"">18758829</a>
 著者        Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A
 タイトル      Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
 雑誌        Neurogenetics 10:49-58 (2009)
 DOI:<a href=""https://doi.org/10.1007/s10048-008-0145-1"">10.1007/s10048-008-0145-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22789865"">22789865</a>
 著者        Gort L, de Olano N, Macias-Vidal J, Coll MA
 タイトル      GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
 雑誌        Gene 506:25-30 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2012.06.080"">10.1016/j.gene.2012.06.080</a>"
H02018,"中枢性思春期早発症
 上位グループ    思春期早発症 [DS:H00937]",,,"Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone (GnRH). Mutations of the KISS1R gene were identified in patients with impaired pubertal development. It has also been reported that central precocious puberty caused by mutations in the imprinted gene MKRN3.",内分泌系疾患,,"KISS1R [HSA:84634] [KO:K08374]
 MKRN3 [HSA:7681] [KO:K15687]",,,,"ブセレリン酢酸塩 [DR:D01831]
 リュープロレリン酢酸塩 [DR:D00989]",,"ICD-11: 5A60.3
 ICD-10: E30.1
 MeSH: C562787
 OMIM: 176400 615346","PMID:18272894
 著者        Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
 タイトル      A GPR54-activating mutation in a patient with central precocious puberty.
 雑誌        N Engl J Med 358:709-15 (2008)
 DOI:10.1056/NEJMoa073443
 PMID:23738509
 著者        Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB
 タイトル      Central precocious puberty caused by mutations in the imprinted gene MKRN3.
 雑誌        N Engl J Med 368:2467-75 (2013)
 DOI:10.1056/NEJMoa1302160","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02018"">H02018</a>","中枢性思春期早発症
 上位グループ    思春期早発症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00937"">H00937</a>]","Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone (GnRH). Mutations of the KISS1R gene were identified in patients with impaired pubertal development. It has also been reported that central precocious puberty caused by mutations in the imprinted gene MKRN3.",,"KISS1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84634"">84634</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08374"">K08374</a>]
 MKRN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7681"">7681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15687"">K15687</a>]",,,,"ブセレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01831"">D01831</a>]
 リュープロレリン酢酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00989"">D00989</a>]",,"ICD-11: 5A60.3
 ICD-10: E30.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562787"">C562787</a>
 OMIM: <a href=""https://www.omim.org/entry/176400"">176400</a> <a href=""https://www.omim.org/entry/615346"">615346</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18272894"">18272894</a>
 著者        Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
 タイトル      A GPR54-activating mutation in a patient with central precocious puberty.
 雑誌        N Engl J Med 358:709-15 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa073443"">10.1056/NEJMoa073443</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23738509"">23738509</a>
 著者        Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB
 タイトル      Central precocious puberty caused by mutations in the imprinted gene MKRN3.
 雑誌        N Engl J Med 368:2467-75 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1302160"">10.1056/NEJMoa1302160</a>"
H02019,"家族性男性思春期早発症;
 家族性精巣中毒症;
 ゴナドトロピン非依存性思春期早発症
 上位グループ    思春期早発症 [DS:H00937]",,,"Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.",内分泌系疾患,,LHCGR [HSA:3973] [KO:K04248],,,,,,"ICD-11: 5A81.0
 ICD-10: E29.0
 MeSH: C536961
 OMIM: 176410","PMID:7892197
 著者        Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr
 タイトル      Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
 雑誌        Proc Natl Acad Sci U S A 92:1906-10 (1995)
 DOI:10.1073/pnas.92.6.1906
 PMID:10580072
 著者        Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A
 タイトル      Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.
 雑誌        N Engl J Med 341:1731-6 (1999)
 DOI:10.1056/NEJM199912023412304","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02019"">H02019</a>","家族性男性思春期早発症;
 家族性精巣中毒症;
 ゴナドトロピン非依存性思春期早発症
 上位グループ    思春期早発症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00937"">H00937</a>]","Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.",,"LHCGR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3973"">3973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04248"">K04248</a>]",,,,,,"ICD-11: 5A81.0
 ICD-10: E29.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536961"">C536961</a>
 OMIM: <a href=""https://www.omim.org/entry/176410"">176410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7892197"">7892197</a>
 著者        Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr
 タイトル      Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
 雑誌        Proc Natl Acad Sci U S A 92:1906-10 (1995)
 DOI:<a href=""https://doi.org/10.1073/pnas.92.6.1906"">10.1073/pnas.92.6.1906</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10580072"">10580072</a>
 著者        Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A
 タイトル      Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.
 雑誌        N Engl J Med 341:1731-6 (1999)
 DOI:<a href=""https://doi.org/10.1056/NEJM199912023412304"">10.1056/NEJM199912023412304</a>"
H02020,アロマターゼ欠損症,,,"Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency, disorders of sex development and progressive virilization at puberty develop in females. In the males, prepubertal development is normal. Delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis develop in both genders.",内分泌疾患,,CYP19A1 [HSA:1588] [KO:K07434],,,,,,"ICD-11: 5A9Y
 ICD-10: E25.8
 MeSH: C537436
 OMIM: 613546","PMID:23748068
 著者        Baykan EK, Erdogan M, Ozen S, Darcan S, Saygili LF
 タイトル      Aromatase deficiency, a rare syndrome: case report.
 雑誌        J Clin Res Pediatr Endocrinol 5:129-32 (2013)
 DOI:10.4274/Jcrpe.970
 PMID:8265607
 著者        Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER
 タイトル      Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
 雑誌        Proc Natl Acad Sci U S A 90:11673-7 (1993)
 DOI:10.1073/pnas.90.24.11673
 PMID:9177373
 著者        Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H
 タイトル      Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
 雑誌        J Clin Endocrinol Metab 82:1739-45 (1997)
 DOI:10.1210/jcem.82.6.3994","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02020"">H02020</a>",アロマターゼ欠損症,"Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency, disorders of sex development and progressive virilization at puberty develop in females. In the males, prepubertal development is normal. Delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis develop in both genders.",,"CYP19A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1588"">1588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07434"">K07434</a>]",,,,,,"ICD-11: 5A9Y
 ICD-10: E25.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537436"">C537436</a>
 OMIM: <a href=""https://www.omim.org/entry/613546"">613546</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23748068"">23748068</a>
 著者        Baykan EK, Erdogan M, Ozen S, Darcan S, Saygili LF
 タイトル      Aromatase deficiency, a rare syndrome: case report.
 雑誌        J Clin Res Pediatr Endocrinol 5:129-32 (2013)
 DOI:<a href=""https://doi.org/10.4274/Jcrpe.970"">10.4274/Jcrpe.970</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8265607"">8265607</a>
 著者        Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER
 タイトル      Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
 雑誌        Proc Natl Acad Sci U S A 90:11673-7 (1993)
 DOI:<a href=""https://doi.org/10.1073/pnas.90.24.11673"">10.1073/pnas.90.24.11673</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9177373"">9177373</a>
 著者        Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H
 タイトル      Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
 雑誌        J Clin Endocrinol Metab 82:1739-45 (1997)
 DOI:<a href=""https://doi.org/10.1210/jcem.82.6.3994"">10.1210/jcem.82.6.3994</a>"
H02021,"チェディアック・東症候群
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]
 リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations in the CHS1/LYST gene.",原発性免疫不全症候群,,LYST [HSA:1130] [KO:K22937],,,,,,"ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: D002609
 OMIM: 214500","PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:9215680
 著者        Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF
 タイトル      Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
 雑誌        Hum Mol Genet 6:1091-8 (1997)
 DOI:10.1093/hmg/6.7.1091","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02021"">H02021</a>","チェディアック・東症候群
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations in the CHS1/LYST gene.",,"LYST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1130"">1130</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22937"">K22937</a>]",,,,,,"ICD-11: EC23.20
 ICD-10: E70.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002609"">D002609</a>
 OMIM: <a href=""https://www.omim.org/entry/214500"">214500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9215680"">9215680</a>
 著者        Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF
 タイトル      Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
 雑誌        Hum Mol Genet 6:1091-8 (1997)
 DOI:<a href=""https://doi.org/10.1093/hmg/6.7.1091"">10.1093/hmg/6.7.1091</a>"
H02022,"グリセリ症候群
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological impairment. GS2 is characterized by the hypopigmentation associated with an immune defect, leading to episodes of a life-threatening uncontrolled T lymphocyte and macrophage activation syndrome.",原発性免疫不全症候群,,"(GS1) MYO5A [HSA:4644] [KO:K10357]
 (GS2) RAB27A [HSA:5873] [KO:K07885]
 (GS3) MLPH [HSA:79083] [KO:K22235]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 OMIM: 214450 607624 609227","PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:9207796
 著者        Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G
 タイトル      Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
 雑誌        Nat Genet 16:289-92 (1997)
 DOI:10.1038/ng0797-289
 PMID:10835631
 著者        Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G
 タイトル      Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
 雑誌        Nat Genet 25:173-6 (2000)
 DOI:10.1038/76024
 PMID:12897212
 著者        Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G
 タイトル      Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
 雑誌        J Clin Invest 112:450-6 (2003)
 DOI:10.1172/JCI18264","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02022"">H02022</a>","グリセリ症候群
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological impairment. GS2 is characterized by the hypopigmentation associated with an immune defect, leading to episodes of a life-threatening uncontrolled T lymphocyte and macrophage activation syndrome.",,"(GS1) MYO5A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4644"">4644</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10357"">K10357</a>]
 (GS2) RAB27A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5873"">5873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07885"">K07885</a>]
 (GS3) MLPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79083"">79083</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22235"">K22235</a>]",,,,,,"ICD-11: EC23.2Y
 ICD-10: E70.3
 OMIM: <a href=""https://www.omim.org/entry/214450"">214450</a> <a href=""https://www.omim.org/entry/607624"">607624</a> <a href=""https://www.omim.org/entry/609227"">609227</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9207796"">9207796</a>
 著者        Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G
 タイトル      Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
 雑誌        Nat Genet 16:289-92 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0797-289"">10.1038/ng0797-289</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10835631"">10835631</a>
 著者        Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G
 タイトル      Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
 雑誌        Nat Genet 25:173-6 (2000)
 DOI:<a href=""https://doi.org/10.1038/76024"">10.1038/76024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12897212"">12897212</a>
 著者        Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G
 タイトル      Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
 雑誌        J Clin Invest 112:450-6 (2003)
 DOI:<a href=""https://doi.org/10.1172/JCI18264"">10.1172/JCI18264</a>"
H02023,Baraitser-Winter 症候群,,,"Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1.",先天奇形,,"(BRWS1) ACTB [HSA:60] [KO:K05692]
 (BRWS2) ACTG1 [HSA:71] [KO:K05692]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 243310 614583","PMID:25052316
 著者        Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenco CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Riviere JB, Dobyns WB, Pilz DT
 タイトル      Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
 雑誌        Eur J Hum Genet 23:292-301 (2015)
 DOI:10.1038/ejhg.2014.95","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02023"">H02023</a>",Baraitser-Winter 症候群,"Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1.",,"(BRWS1) ACTB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60"">60</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]
 (BRWS2) ACTG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:71"">71</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05692"">K05692</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/243310"">243310</a> <a href=""https://www.omim.org/entry/614583"">614583</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25052316"">25052316</a>
 著者        Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenco CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Riviere JB, Dobyns WB, Pilz DT
 タイトル      Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
 雑誌        Eur J Hum Genet 23:292-301 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.95"">10.1038/ejhg.2014.95</a>"
H02024,"好中球二次顆粒欠損症
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,"Neutrophil-specific granule deficiency (SGD) is a rare disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 is chromatin-remodeling factor, that interacts with CEBP epsilon.",原発性免疫不全症候群,,"(SGD1) CEBPE [HSA:1053] [KO:K10051]
 (SGD2) SMARCD2 [HSA:6603] [KO:K11650]",,,,,,"ICD-11: 4A00.0Y
 ICD-10: D71
 MeSH: C562873
 OMIM: 245480 617475","PMID:10359588
 著者        Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI
 タイトル      Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
 雑誌        J Exp Med 189:1847-52 (1999)
 DOI:10.1084/jem.189.11.1847
 PMID:28369036
 著者        Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchalka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schaffer AA, Klein C
 タイトル      Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
 雑誌        Nat Genet 49:742-752 (2017)
 DOI:10.1038/ng.3833","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02024"">H02024</a>","好中球二次顆粒欠損症
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Neutrophil-specific granule deficiency (SGD) is a rare disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 is chromatin-remodeling factor, that interacts with CEBP epsilon.",,"(SGD1) CEBPE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1053"">1053</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10051"">K10051</a>]
 (SGD2) SMARCD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6603"">6603</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11650"">K11650</a>]",,,,,,"ICD-11: 4A00.0Y
 ICD-10: D71
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562873"">C562873</a>
 OMIM: <a href=""https://www.omim.org/entry/245480"">245480</a> <a href=""https://www.omim.org/entry/617475"">617475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10359588"">10359588</a>
 著者        Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI
 タイトル      Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
 雑誌        J Exp Med 189:1847-52 (1999)
 DOI:<a href=""https://doi.org/10.1084/jem.189.11.1847"">10.1084/jem.189.11.1847</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28369036"">28369036</a>
 著者        Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchalka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schaffer AA, Klein C
 タイトル      Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
 雑誌        Nat Genet 49:742-752 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3833"">10.1038/ng.3833</a>"
H02025,"ミエロペルオキシダーゼ欠損症
 上位グループ    他の食細胞の障害 [DS:H00101]
 自然免疫の障害 [DS:H02525]
 原発性免疫不全症 [DS:H01725]",,,Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described.,原発性免疫不全症候群,,MPO [HSA:4353] [KO:K10789],,,,,,"ICD-11: 4A00.0Y 5C58
 ICD-10: E80.3
 MeSH: C562864
 OMIM: 254600","PMID:15096561
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:10.1016/S1525-1578(10)60493-X
 PMID:7904599
 著者        Nauseef WM, Brigham S, Cogley M
 タイトル      Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
 雑誌        J Biol Chem 269:1212-6 (1994)
 PMID:9354683
 著者        Romano M, Dri P, Da Dalt L, Patriarca P, Baralle FE
 タイトル      Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
 雑誌        Blood 90:4126-34 (1997)
 PMID:9637725
 著者        DeLeo FR, Goedken M, McCormick SJ, Nauseef WM
 タイトル      A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.
 雑誌        J Clin Invest 101:2900-9 (1998)
 DOI:10.1172/JCI2649","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02025"">H02025</a>","ミエロペルオキシダーゼ欠損症
 上位グループ    他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 自然免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]",Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described.,,"MPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4353"">4353</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10789"">K10789</a>]",,,,,,"ICD-11: 4A00.0Y 5C58
 ICD-10: E80.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562864"">C562864</a>
 OMIM: <a href=""https://www.omim.org/entry/254600"">254600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15096561"">15096561</a>
 著者        Lim MS, Elenitoba-Johnson KS.
 タイトル      The molecular pathology of primary immunodeficiencies.
 雑誌        J Mol Diagn 6:59-83 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1525-1578(10)60493-X"">10.1016/S1525-1578(10)60493-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7904599"">7904599</a>
 著者        Nauseef WM, Brigham S, Cogley M
 タイトル      Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
 雑誌        J Biol Chem 269:1212-6 (1994)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9354683"">9354683</a>
 著者        Romano M, Dri P, Da Dalt L, Patriarca P, Baralle FE
 タイトル      Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
 雑誌        Blood 90:4126-34 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9637725"">9637725</a>
 著者        DeLeo FR, Goedken M, McCormick SJ, Nauseef WM
 タイトル      A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.
 雑誌        J Clin Invest 101:2900-9 (1998)
 DOI:<a href=""https://doi.org/10.1172/JCI2649"">10.1172/JCI2649</a>"
H02026,"家族性低カルシウム尿性高カルシウム血症
 上位グループ    カルシウム感知受容体 (CASR) 異常症 [DS:H00245]",,,"Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically heterogeneous disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis.",先天性代謝異常症,,"(HHC1) CASR [HSA:846] [KO:K04612]
 (HHC2) GNA11 [HSA:2767] [KO:K04635]
 (HHC3) AP2S1 [HSA:1175] [KO:K11827]",,,,,,"ICD-11: 5A51.2
 ICD-10: E83.5
 MeSH: D006934
 OMIM: 145980 145981 600740","PMID:7673400
 著者        Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T
 タイトル      Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
 雑誌        J Clin Endocrinol Metab 80:2594-8 (1995)
 DOI:10.1210/jcem.80.9.7673400
 PMID:23802516
 著者        Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV
 タイトル      Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
 雑誌        N Engl J Med 368:2476-2486 (2013)
 DOI:10.1056/NEJMoa1300253
 PMID:23222959
 著者        Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV
 タイトル      Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
 雑誌        Nat Genet 45:93-7 (2013)
 DOI:10.1038/ng.2492","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02026"">H02026</a>","家族性低カルシウム尿性高カルシウム血症
 上位グループ    カルシウム感知受容体 (CASR) 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00245"">H00245</a>]","Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically heterogeneous disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis.",,"(HHC1) CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]
 (HHC2) GNA11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2767"">2767</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04635"">K04635</a>]
 (HHC3) AP2S1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1175"">1175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11827"">K11827</a>]",,,,,,"ICD-11: 5A51.2
 ICD-10: E83.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006934"">D006934</a>
 OMIM: <a href=""https://www.omim.org/entry/145980"">145980</a> <a href=""https://www.omim.org/entry/145981"">145981</a> <a href=""https://www.omim.org/entry/600740"">600740</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7673400"">7673400</a>
 著者        Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T
 タイトル      Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
 雑誌        J Clin Endocrinol Metab 80:2594-8 (1995)
 DOI:<a href=""https://doi.org/10.1210/jcem.80.9.7673400"">10.1210/jcem.80.9.7673400</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23802516"">23802516</a>
 著者        Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV
 タイトル      Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
 雑誌        N Engl J Med 368:2476-2486 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1300253"">10.1056/NEJMoa1300253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23222959"">23222959</a>
 著者        Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV
 タイトル      Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
 雑誌        Nat Genet 45:93-7 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2492"">10.1038/ng.2492</a>"
H02027,"男子性腺機能不全症;
 男性性腺機能低下症
 下位グループ    46,XY性分化疾患 [DS:H00608]
 低ゴナドトロピン性性腺機能低下症
 下垂体前葉機能低下症
 下垂体性ゴナドトロピン分泌異常 [DS:H01860]
 妊性宦官型症候群 [DS:H01973]
 プラダー・ウィリー症候群 [DS:H00478]",,,"Hypogonadism in male patients is characterized by a deficiency in testosterone - a critical hormone for sexual, cognitive, and body function and development. Low testosterone levels may be due to testicular, hypothalamic, or pituitary abnormalities.",内分泌系疾患; 生殖系疾患,,,,,,"ヒト絨毛性性腺刺激ホルモン [DR:D06457]
 テストステロンエナント酸エステル [DR:D00958]",,"ICD-11: 5A81.1
 ICD-10: E23.0 E29.1 Q56
 MeSH: D007006
 OMIM: 300068 312300 201710 238320 202110 201810 264300 201750 264600 270400 613743 160900 602668 262400 612781 173100 262650 262500 262600 262700 307200 312000 608747 613038 221750 163950 609942 610733 611553 613224 613706 151100 611554 613707 607721 613563 162200 101000 601321 611431 115150 218040 193520 162210 615355 308700 147950 244200 610628 612370 612702 146110 614837 614838 614839 614840 614841 614842 228300 614858 614880 614897 615266 615267 615269 615270 615271 616030 275100 176270","PMID:22247861
 著者        Kumar P, Kumar N, Thakur DS, Patidar A
 タイトル      Male hypogonadism: Symptoms and treatment.
 雑誌        J Adv Pharm Technol Res 1:297-301 (2010)
 DOI:10.4103/0110-5558.72420
 PMID:16985909
 著者        Carnegie C
 タイトル      Diagnosis of hypogonadism: clinical assessments and laboratory tests.
 雑誌        Rev Urol 6 Suppl 6:S3-8 (2004)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>","男子性腺機能不全症;
 男性性腺機能低下症
 下位グループ    46,XY性分化疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00608"">H00608</a>]
 低ゴナドトロピン性性腺機能低下症
 下垂体前葉機能低下症
 下垂体性ゴナドトロピン分泌異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01860"">H01860</a>]
 妊性宦官型症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01973"">H01973</a>]
 プラダー・ウィリー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00478"">H00478</a>]","Hypogonadism in male patients is characterized by a deficiency in testosterone - a critical hormone for sexual, cognitive, and body function and development. Low testosterone levels may be due to testicular, hypothalamic, or pituitary abnormalities.",,,,,,"ヒト絨毛性性腺刺激ホルモン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06457"">D06457</a>]
 テストステロンエナント酸エステル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00958"">D00958</a>]",,"ICD-11: 5A81.1
 ICD-10: E23.0 E29.1 Q56
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007006"">D007006</a>
 OMIM: <a href=""https://www.omim.org/entry/300068"">300068</a> <a href=""https://www.omim.org/entry/312300"">312300</a> <a href=""https://www.omim.org/entry/201710"">201710</a> <a href=""https://www.omim.org/entry/238320"">238320</a> <a href=""https://www.omim.org/entry/202110"">202110</a> <a href=""https://www.omim.org/entry/201810"">201810</a> <a href=""https://www.omim.org/entry/264300"">264300</a> <a href=""https://www.omim.org/entry/201750"">201750</a> <a href=""https://www.omim.org/entry/264600"">264600</a> <a href=""https://www.omim.org/entry/270400"">270400</a> <a href=""https://www.omim.org/entry/613743"">613743</a> <a href=""https://www.omim.org/entry/160900"">160900</a> <a href=""https://www.omim.org/entry/602668"">602668</a> <a href=""https://www.omim.org/entry/262400"">262400</a> <a href=""https://www.omim.org/entry/612781"">612781</a> <a href=""https://www.omim.org/entry/173100"">173100</a> <a href=""https://www.omim.org/entry/262650"">262650</a> <a href=""https://www.omim.org/entry/262500"">262500</a> <a href=""https://www.omim.org/entry/262600"">262600</a> <a href=""https://www.omim.org/entry/262700"">262700</a> <a href=""https://www.omim.org/entry/307200"">307200</a> <a href=""https://www.omim.org/entry/312000"">312000</a> <a href=""https://www.omim.org/entry/608747"">608747</a> <a href=""https://www.omim.org/entry/613038"">613038</a> <a href=""https://www.omim.org/entry/221750"">221750</a> <a href=""https://www.omim.org/entry/163950"">163950</a> <a href=""https://www.omim.org/entry/609942"">609942</a> <a href=""https://www.omim.org/entry/610733"">610733</a> <a href=""https://www.omim.org/entry/611553"">611553</a> <a href=""https://www.omim.org/entry/613224"">613224</a> <a href=""https://www.omim.org/entry/613706"">613706</a> <a href=""https://www.omim.org/entry/151100"">151100</a> <a href=""https://www.omim.org/entry/611554"">611554</a> <a href=""https://www.omim.org/entry/613707"">613707</a> <a href=""https://www.omim.org/entry/607721"">607721</a> <a href=""https://www.omim.org/entry/613563"">613563</a> <a href=""https://www.omim.org/entry/162200"">162200</a> <a href=""https://www.omim.org/entry/101000"">101000</a> <a href=""https://www.omim.org/entry/601321"">601321</a> <a href=""https://www.omim.org/entry/611431"">611431</a> <a href=""https://www.omim.org/entry/115150"">115150</a> <a href=""https://www.omim.org/entry/218040"">218040</a> <a href=""https://www.omim.org/entry/193520"">193520</a> <a href=""https://www.omim.org/entry/162210"">162210</a> <a href=""https://www.omim.org/entry/615355"">615355</a> <a href=""https://www.omim.org/entry/308700"">308700</a> <a href=""https://www.omim.org/entry/147950"">147950</a> <a href=""https://www.omim.org/entry/244200"">244200</a> <a href=""https://www.omim.org/entry/610628"">610628</a> <a href=""https://www.omim.org/entry/612370"">612370</a> <a href=""https://www.omim.org/entry/612702"">612702</a> <a href=""https://www.omim.org/entry/146110"">146110</a> <a href=""https://www.omim.org/entry/614837"">614837</a> <a href=""https://www.omim.org/entry/614838"">614838</a> <a href=""https://www.omim.org/entry/614839"">614839</a> <a href=""https://www.omim.org/entry/614840"">614840</a> <a href=""https://www.omim.org/entry/614841"">614841</a> <a href=""https://www.omim.org/entry/614842"">614842</a> <a href=""https://www.omim.org/entry/228300"">228300</a> <a href=""https://www.omim.org/entry/614858"">614858</a> <a href=""https://www.omim.org/entry/614880"">614880</a> <a href=""https://www.omim.org/entry/614897"">614897</a> <a href=""https://www.omim.org/entry/615266"">615266</a> <a href=""https://www.omim.org/entry/615267"">615267</a> <a href=""https://www.omim.org/entry/615269"">615269</a> <a href=""https://www.omim.org/entry/615270"">615270</a> <a href=""https://www.omim.org/entry/615271"">615271</a> <a href=""https://www.omim.org/entry/616030"">616030</a> <a href=""https://www.omim.org/entry/275100"">275100</a> <a href=""https://www.omim.org/entry/176270"">176270</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22247861"">22247861</a>
 著者        Kumar P, Kumar N, Thakur DS, Patidar A
 タイトル      Male hypogonadism: Symptoms and treatment.
 雑誌        J Adv Pharm Technol Res 1:297-301 (2010)
 DOI:<a href=""https://doi.org/10.4103/0110-5558.72420"">10.4103/0110-5558.72420</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16985909"">16985909</a>
 著者        Carnegie C
 タイトル      Diagnosis of hypogonadism: clinical assessments and laboratory tests.
 雑誌        Rev Urol 6 Suppl 6:S3-8 (2004)"
H02028,"フィラリア症;
 糸状虫症
 下位グループ    マンソネラ症 [DS:H01061]
 リンパ系フィラリア [DS:H01086]
 オンコセルカ症 [DS:H01043]
 ロア糸状虫症 [DS:H01104]",,,"Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity.",感染症,,,"Wuchereria bancrofti
 Brugia malayi [GN:bmy]
 Brugia timori
 Onchocerca volvulus
 Loa loa [GN:loa]
 Mansonella perstans",,,ジエチルカルバマジンクエン酸塩 [DR:D00803],,"ICD-11: 1F66
 ICD-10: B74
 MeSH: D005368","PMID:27733303
 著者        Develoux M, Hennequin C, Le Loup G, Paris L, Magne D, Belkadi G, Pialoux G
 タイトル      Imported filariasis in Europe: A series of 31 cases from Metropolitan France.
 雑誌        Eur J Intern Med 37:e37-e39 (2017)
 DOI:10.1016/j.ejim.2016.09.021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02028"">H02028</a>","フィラリア症;
 糸状虫症
 下位グループ    マンソネラ症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01061"">H01061</a>]
 リンパ系フィラリア [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01086"">H01086</a>]
 オンコセルカ症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01043"">H01043</a>]
 ロア糸状虫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01104"">H01104</a>]","Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity.",,,"Wuchereria bancrofti
 Brugia malayi [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bmy"">bmy</a>]
 Brugia timori
 Onchocerca volvulus
 Loa loa [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:loa"">loa</a>]
 Mansonella perstans",,,"ジエチルカルバマジンクエン酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00803"">D00803</a>]",,"ICD-11: 1F66
 ICD-10: B74
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005368"">D005368</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27733303"">27733303</a>
 著者        Develoux M, Hennequin C, Le Loup G, Paris L, Magne D, Belkadi G, Pialoux G
 タイトル      Imported filariasis in Europe: A series of 31 cases from Metropolitan France.
 雑誌        Eur J Intern Med 37:e37-e39 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ejim.2016.09.021"">10.1016/j.ejim.2016.09.021</a>"
H02029,"肺 MAC 症
 上位グループ    非結核性抗酸菌症 [DS:H01458]",,,"Nontuberculous mycobacteria (NTM), including Mycobacterium avium complex (MAC), cause opportunistic chronic pulmonary infections. MAC includes M. avium, M. intracellulare, and eight other species, including M. chimaera. MAC pulmonary disease has been described with two types of clinical manifestations: fibrocavitary and nodular bronchiectatic.",感染症,,,"Mycobacterium intracellulare [GN:mit mia mir]
 Mycobacterium chimaera [GN:mchi]
 Mycobacterium avium",,,"アジスロマイシン水和物 [DR:D02134]
 アミカシン硫酸塩 [DR:D00865]
 クラリスロマイシン [DR:D00276]
 ストレプトマイシン硫酸塩 [DR:D01350]
 リファンピシン [DR:D00211]
 リファブチン [DR:D00424]
 エタンブトール塩酸塩 [DR:D00878]",,"ICD-11: 1B21.0
 ICD-10: A31
 MeSH: D009165","PMID:26967761
 著者        Kang YA, Koh WJ
 タイトル      Antibiotic treatment for nontuberculous mycobacterial lung disease.
 雑誌        Expert Rev Respir Med 10:557-68 (2016)
 DOI:10.1586/17476348.2016.1165611
 PMID:28827842
 著者        Matsumura Y, Kitabatake M, Ouji-Sageshima N, Yasui S, Mochida N, Nakano R, Kasahara K, Tomoda K, Yano H, Kayano SI, Ito T
 タイトル      Persimmon-derived tannin has bacteriostatic and anti-inflammatory activity in a murine model of Mycobacterium avium complex (MAC) disease.
 雑誌        PLoS One 12:e0183489 (2017)
 DOI:10.1371/journal.pone.0183489","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02029"">H02029</a>","肺 MAC 症
 上位グループ    非結核性抗酸菌症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01458"">H01458</a>]","Nontuberculous mycobacteria (NTM), including Mycobacterium avium complex (MAC), cause opportunistic chronic pulmonary infections. MAC includes M. avium, M. intracellulare, and eight other species, including M. chimaera. MAC pulmonary disease has been described with two types of clinical manifestations: fibrocavitary and nodular bronchiectatic.",,,"Mycobacterium intracellulare [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mit"">mit</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mia"">mia</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mir"">mir</a>]
 Mycobacterium chimaera [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:mchi"">mchi</a>]
 Mycobacterium avium",,,"アジスロマイシン水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02134"">D02134</a>]
 アミカシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00865"">D00865</a>]
 クラリスロマイシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00276"">D00276</a>]
 ストレプトマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01350"">D01350</a>]
 リファンピシン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00211"">D00211</a>]
 リファブチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00424"">D00424</a>]
 エタンブトール塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00878"">D00878</a>]",,"ICD-11: 1B21.0
 ICD-10: A31
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009165"">D009165</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26967761"">26967761</a>
 著者        Kang YA, Koh WJ
 タイトル      Antibiotic treatment for nontuberculous mycobacterial lung disease.
 雑誌        Expert Rev Respir Med 10:557-68 (2016)
 DOI:<a href=""https://doi.org/10.1586/17476348.2016.1165611"">10.1586/17476348.2016.1165611</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28827842"">28827842</a>
 著者        Matsumura Y, Kitabatake M, Ouji-Sageshima N, Yasui S, Mochida N, Nakano R, Kasahara K, Tomoda K, Yano H, Kayano SI, Ito T
 タイトル      Persimmon-derived tannin has bacteriostatic and anti-inflammatory activity in a murine model of Mycobacterium avium complex (MAC) disease.
 雑誌        PLoS One 12:e0183489 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0183489"">10.1371/journal.pone.0183489</a>"
H02030,"新生児副甲状腺機能亢進症
 下位グループ    新生児一過性副甲状腺機能亢進症 (HRPTTN)
 上位グループ    カルシウム感知受容体 (CASR) 異常症 [DS:H00245]",,,"Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium and parathyroid hormone (PTH) levels, skeletal demineralization, and parathyroid cellular hyperplasia that can be lethal without parathyroidectomy.",内分泌系疾患,,"(NHPT) CASR [HSA:846] [KO:K04612]
 (HRPTTN) TRPV6 [HSA:55503] [KO:K04975]",,,,,,"ICD-11: 5A51.Y
 ICD-10: E21.0
 MeSH: C563375
 OMIM: 239200 618188","PMID:9109436
 著者        Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN
 タイトル      Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
 雑誌        J Clin Invest 99:1917-25 (1997)
 DOI:10.1172/JCI119359
 PMID:8675635
 著者        Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.
 タイトル      Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
 雑誌        J Clin Invest 96:2683-92 (1995)
 DOI:10.1172/JCI118335
 PMID:29861107
 著者        Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G
 タイトル      TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
 雑誌        Am J Hum Genet 102:1104-1114 (2018)
 DOI:10.1016/j.ajhg.2018.04.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02030"">H02030</a>","新生児副甲状腺機能亢進症
 下位グループ    新生児一過性副甲状腺機能亢進症 (HRPTTN)
 上位グループ    カルシウム感知受容体 (CASR) 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00245"">H00245</a>]","Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium and parathyroid hormone (PTH) levels, skeletal demineralization, and parathyroid cellular hyperplasia that can be lethal without parathyroidectomy.",,"(NHPT) CASR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:846"">846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04612"">K04612</a>]
 (HRPTTN) TRPV6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55503"">55503</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04975"">K04975</a>]",,,,,,"ICD-11: 5A51.Y
 ICD-10: E21.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563375"">C563375</a>
 OMIM: <a href=""https://www.omim.org/entry/239200"">239200</a> <a href=""https://www.omim.org/entry/618188"">618188</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9109436"">9109436</a>
 著者        Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN
 タイトル      Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
 雑誌        J Clin Invest 99:1917-25 (1997)
 DOI:<a href=""https://doi.org/10.1172/JCI119359"">10.1172/JCI119359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8675635"">8675635</a>
 著者        Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.
 タイトル      Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
 雑誌        J Clin Invest 96:2683-92 (1995)
 DOI:<a href=""https://doi.org/10.1172/JCI118335"">10.1172/JCI118335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29861107"">29861107</a>
 著者        Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G
 タイトル      TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
 雑誌        Am J Hum Genet 102:1104-1114 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.04.006"">10.1016/j.ajhg.2018.04.006</a>"
H02031,"骨パジェット病および前頭側頭型認知症をともなう封入体ミオパチー
 上位グループ    前頭側頭葉変性症 [DS:H00078]",,,"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.",神経系疾患; 筋骨格疾患,,"(IBMPFD1) VCP [HSA:7415] [KO:K13525] [K13525]
 (IBMPFD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
 (IBMPFD3) HNRNPA1 [HSA:3178] [KO:K12741]",,,,,,"ICD-11: 4A41.21
 ICD-10: G71.8
 OMIM: 167320 615422 615424","PMID:16247064 (IBMPFD1)
 著者        Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A
 タイトル      Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
 雑誌        Neurology 65:1304-5 (2005)
 DOI:10.1212/01.wnl.0000180407.15369.92
 PMID:27990419 (IBMPFD1)
 著者        Tang WK, Xia D
 タイトル      Mutations in the Human AAA(+) Chaperone p97 and Related Diseases.
 雑誌        Front Mol Biosci 3:79 (2016)
 DOI:10.3389/fmolb.2016.00079
 PMID:23455423 (IBMPFD2_3)
 著者        Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP
 タイトル      Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
 雑誌        Nature 495:467-73 (2013)
 DOI:10.1038/nature11922","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02031"">H02031</a>","骨パジェット病および前頭側頭型認知症をともなう封入体ミオパチー
 上位グループ    前頭側頭葉変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00078"">H00078</a>]","Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.",,"(IBMPFD1) VCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7415"">7415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13525"">K13525</a>] [<a href=""http://www.kegg.jp/dbget-bin/www_bget?ko:K13525]"">K13525]</a>
 (IBMPFD2) HNRNPA2B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3181"">3181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13158"">K13158</a>]
 (IBMPFD3) HNRNPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3178"">3178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12741"">K12741</a>]",,,,,,"ICD-11: 4A41.21
 ICD-10: G71.8
 OMIM: <a href=""https://www.omim.org/entry/167320"">167320</a> <a href=""https://www.omim.org/entry/615422"">615422</a> <a href=""https://www.omim.org/entry/615424"">615424</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16247064"">16247064</a> (IBMPFD1)
 著者        Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A
 タイトル      Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
 雑誌        Neurology 65:1304-5 (2005)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000180407.15369.92"">10.1212/01.wnl.0000180407.15369.92</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27990419"">27990419</a> (IBMPFD1)
 著者        Tang WK, Xia D
 タイトル      Mutations in the Human AAA(+) Chaperone p97 and Related Diseases.
 雑誌        Front Mol Biosci 3:79 (2016)
 DOI:<a href=""https://doi.org/10.3389/fmolb.2016.00079"">10.3389/fmolb.2016.00079</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23455423"">23455423</a> (IBMPFD2_3)
 著者        Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP
 タイトル      Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
 雑誌        Nature 495:467-73 (2013)
 DOI:<a href=""https://doi.org/10.1038/nature11922"">10.1038/nature11922</a>"
H02032,"エントモフトラ症
 上位グループ    接合菌症 [DS:H01503]",,,"The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Genera from the order Entomophthorales produce a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",感染症,,,"Basidiobolus ranarum
 Conidiobolus coronatus
 Conidiobolus incongruus",,,,,"ICD-11: 1F21 1F26
 ICD-10: B46
 MeSH: D020096","PMID:25377138
 著者        Mendoza L, Vilela R, Voelz K, Ibrahim AS, Voigt K, Lee SC
 タイトル      Human Fungal Pathogens of Mucorales and Entomophthorales.
 雑誌        Cold Spring Harb Perspect Med 5:a019562 (2014)
 DOI:10.1101/cshperspect.a019562
 PMID:14748801
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:10.1111/j.1470-9465.2004.00843.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02032"">H02032</a>","エントモフトラ症
 上位グループ    接合菌症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01503"">H01503</a>]","The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Genera from the order Entomophthorales produce a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",,,"Basidiobolus ranarum
 Conidiobolus coronatus
 Conidiobolus incongruus",,,,,"ICD-11: 1F21 1F26
 ICD-10: B46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020096"">D020096</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25377138"">25377138</a>
 著者        Mendoza L, Vilela R, Voelz K, Ibrahim AS, Voigt K, Lee SC
 タイトル      Human Fungal Pathogens of Mucorales and Entomophthorales.
 雑誌        Cold Spring Harb Perspect Med 5:a019562 (2014)
 DOI:<a href=""https://doi.org/10.1101/cshperspect.a019562"">10.1101/cshperspect.a019562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14748801"">14748801</a>
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1470-9465.2004.00843.x"">10.1111/j.1470-9465.2004.00843.x</a>"
H02033,"ムコール症;
 ムーコル症
 上位グループ    接合菌症 [DS:H01503]",,,"The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Infection sites include the lungs, rhinocerebral spaces, sinuses, soft tissue, skin, gastrointestinal tract and bloodstream. Genera from the order Entomophthorales produce a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",感染症,,,"Mucor racemosus
 Mucor circinelloides
 Mucor ramosissimus
 Mucor indicus
 Mucor hiemalis
 Rhizopus arrhizus
 Rhizopus rhizopodiformis
 Rhizopus azygosporus
 Rhizopus stolonifer
 Rhizopus schipperae
 Rhizopus microsporus
 Rhizomucor pusillus
 Absidia corymbifera
 Apophysomyces elegans
 Cunninghamella bertholletiae
 Saksenaea vasiformis
 Cokeromyces recurvatus",,,ポサコナゾール [DR:D02555],,"ICD-11: 1F2C
 ICD-10: B46
 MeSH: D009091 D020096","PMID:25377138
 著者        Mendoza L, Vilela R, Voelz K, Ibrahim AS, Voigt K, Lee SC
 タイトル      Human Fungal Pathogens of Mucorales and Entomophthorales.
 雑誌        Cold Spring Harb Perspect Med 5:a019562 (2014)
 DOI:10.1101/cshperspect.a019562
 PMID:14748801
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:10.1111/j.1470-9465.2004.00843.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02033"">H02033</a>","ムコール症;
 ムーコル症
 上位グループ    接合菌症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01503"">H01503</a>]","The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis. Infection sites include the lungs, rhinocerebral spaces, sinuses, soft tissue, skin, gastrointestinal tract and bloodstream. Genera from the order Entomophthorales produce a chronic subcutaneous infection called entomophthoramycosis in immunocompetent patients.",,,"Mucor racemosus
 Mucor circinelloides
 Mucor ramosissimus
 Mucor indicus
 Mucor hiemalis
 Rhizopus arrhizus
 Rhizopus rhizopodiformis
 Rhizopus azygosporus
 Rhizopus stolonifer
 Rhizopus schipperae
 Rhizopus microsporus
 Rhizomucor pusillus
 Absidia corymbifera
 Apophysomyces elegans
 Cunninghamella bertholletiae
 Saksenaea vasiformis
 Cokeromyces recurvatus",,,"ポサコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02555"">D02555</a>]",,"ICD-11: 1F2C
 ICD-10: B46
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009091"">D009091</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020096"">D020096</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25377138"">25377138</a>
 著者        Mendoza L, Vilela R, Voelz K, Ibrahim AS, Voigt K, Lee SC
 タイトル      Human Fungal Pathogens of Mucorales and Entomophthorales.
 雑誌        Cold Spring Harb Perspect Med 5:a019562 (2014)
 DOI:<a href=""https://doi.org/10.1101/cshperspect.a019562"">10.1101/cshperspect.a019562</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14748801"">14748801</a>
 著者        Prabhu RM, Patel R
 タイトル      Mucormycosis and entomophthoramycosis: a review of the clinical manifestations, diagnosis and treatment.
 雑誌        Clin Microbiol Infect 10 Suppl 1:31-47 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1470-9465.2004.00843.x"">10.1111/j.1470-9465.2004.00843.x</a>"
H02034,中枢性甲状腺機能低下および精巣腫大,,,"Central hypothyroidism and testicular enlargement is a novel X-linked disorder in which loss-of-function mutations in IGSF1. It causes central hypothyroidism, testis enlargement, and variable prolactin and growth hormone deficiency.",内分泌疾患,,IGSF1 [HSA:3547],,,,,,"ICD-11: 5A61.41
 ICD-10: E03.1
 MeSH: D003409
 OMIM: 300888","PMID:23143598
 著者        Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ
 タイトル      Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
 雑誌        Nat Genet 44:1375-81 (2012)
 DOI:10.1038/ng.2453","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02034"">H02034</a>",中枢性甲状腺機能低下および精巣腫大,"Central hypothyroidism and testicular enlargement is a novel X-linked disorder in which loss-of-function mutations in IGSF1. It causes central hypothyroidism, testis enlargement, and variable prolactin and growth hormone deficiency.",,"IGSF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3547"">3547</a>]",,,,,,"ICD-11: 5A61.41
 ICD-10: E03.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003409"">D003409</a>
 OMIM: <a href=""https://www.omim.org/entry/300888"">300888</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23143598"">23143598</a>
 著者        Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ
 タイトル      Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
 雑誌        Nat Genet 44:1375-81 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2453"">10.1038/ng.2453</a>"
H02035,"成長ホルモン単独欠損症
 上位グループ    成長ホルモン分泌不全症 [DS:H00254]
 下垂体前葉機能低下症 [DS:H01700]",,,"Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. About 5-30% of patients are found to have affected first-degree relatives, suggesting genetic causes. IGHD has been classified into three types. IGHD type 1, characterized by autosomal recessive transmission, is further separated into subtypes 1A and 1B. The phenotype of IGHD type 1B is milder than that of IGHD type 1A. IGHD type 2 is inherited in an autosomal dominant pattern. IGHD type 3 is an X-linked recessive disorder with a highly variable phenotype. Some individuals have an associated agammaglobulinemia.",内分泌疾患,nt06324  GHRH-GH-IGF signaling,"(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
 (IGHD3) BTK [HSA:695] [KO:K07370]
 (IGHD4) GHRHR [HSA:2692] [KO:K04584]
 (IGHD5) RNPC3 [HSA:55599] [KO:K13157]",,,,メカセルミン [DR:D03297],,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: D004393
 OMIM: 262400 612781 173100 307200 618157 618160","PMID:17965963
 著者        Hernandez LM, Lee PD, Camacho-Hubner C
 タイトル      Isolated growth hormone deficiency.
 雑誌        Pituitary 10:351-7 (2007)
 DOI:10.1007/s11102-007-0073-3
 PMID:17785368
 著者        Hess O, Hujeirat Y, Wajnrajch MP, Allon-Shalev S, Zadik Z, Lavi I, Tenenbaum-Rakover Y
 タイトル      Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.
 雑誌        J Clin Endocrinol Metab 92:4387-93 (2007)
 DOI:10.1210/jc.2007-0684
 PMID:8496314 (GH1, IGHD1A/1B)
 著者        Cogan JD, Phillips JA 3rd, Sakati N, Frisch H, Schober E, Milner RD
 タイトル      Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
 雑誌        J Clin Endocrinol Metab 76:1224-8 (1993)
 DOI:10.1210/jcem.76.5.8496314
 PMID:8288694 (GH1, IGHD2)
 著者        Phillips JA 3rd, Cogan JD
 タイトル      Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.
 雑誌        J Clin Endocrinol Metab 78:11-6 (1994)
 DOI:10.1210/jcem.78.1.8288694
 PMID:8013627 (BTK)
 著者        Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M
 タイトル      An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
 雑誌        FEBS Lett 346:165-70 (1994)
 DOI:10.1016/0014-5793(94)00457-9
 PMID:8528260 (GHRHR)
 著者        Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL
 タイトル      Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
 雑誌        Nat Genet 12:88-90 (1996)
 DOI:10.1038/ng0196-88
 PMID:24480542 (RNPC3)
 著者        Argente J, Flores R, Gutierrez-Arumi A, Verma B, Martos-Moreno GA, Cusco I, Oghabian A, Chowen JA, Frilander MJ, Perez-Jurado LA
 タイトル      Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
 雑誌        EMBO Mol Med 6:299-306 (2014)
 DOI:10.1002/emmm.201303573","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02035"">H02035</a>","成長ホルモン単独欠損症
 上位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. About 5-30% of patients are found to have affected first-degree relatives, suggesting genetic causes. IGHD has been classified into three types. IGHD type 1, characterized by autosomal recessive transmission, is further separated into subtypes 1A and 1B. The phenotype of IGHD type 1B is milder than that of IGHD type 1A. IGHD type 2 is inherited in an autosomal dominant pattern. IGHD type 3 is an X-linked recessive disorder with a highly variable phenotype. Some individuals have an associated agammaglobulinemia.","<a href=""https://www.kegg.jp/network/nt06324"">nt06324</a>  GHRH-GH-IGF signaling","(IGHD1A/1B/2) GH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2688"">2688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05438"">K05438</a>]
 (IGHD3) BTK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:695"">695</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07370"">K07370</a>]
 (IGHD4) GHRHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2692"">2692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04584"">K04584</a>]
 (IGHD5) RNPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55599"">55599</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13157"">K13157</a>]",,,,"メカセルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03297"">D03297</a>]",,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004393"">D004393</a>
 OMIM: <a href=""https://www.omim.org/entry/262400"">262400</a> <a href=""https://www.omim.org/entry/612781"">612781</a> <a href=""https://www.omim.org/entry/173100"">173100</a> <a href=""https://www.omim.org/entry/307200"">307200</a> <a href=""https://www.omim.org/entry/618157"">618157</a> <a href=""https://www.omim.org/entry/618160"">618160</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17965963"">17965963</a>
 著者        Hernandez LM, Lee PD, Camacho-Hubner C
 タイトル      Isolated growth hormone deficiency.
 雑誌        Pituitary 10:351-7 (2007)
 DOI:<a href=""https://doi.org/10.1007/s11102-007-0073-3"">10.1007/s11102-007-0073-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17785368"">17785368</a>
 著者        Hess O, Hujeirat Y, Wajnrajch MP, Allon-Shalev S, Zadik Z, Lavi I, Tenenbaum-Rakover Y
 タイトル      Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.
 雑誌        J Clin Endocrinol Metab 92:4387-93 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-0684"">10.1210/jc.2007-0684</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8496314"">8496314</a> (GH1, <a href=""https://pubmed.ncbi.nlm.nih.gov/IGHD1A/1B)"">IGHD1A/1B)</a>
 著者        Cogan JD, Phillips JA 3rd, Sakati N, Frisch H, Schober E, Milner RD
 タイトル      Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
 雑誌        J Clin Endocrinol Metab 76:1224-8 (1993)
 DOI:<a href=""https://doi.org/10.1210/jcem.76.5.8496314"">10.1210/jcem.76.5.8496314</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8288694"">8288694</a> (GH1, <a href=""https://pubmed.ncbi.nlm.nih.gov/IGHD2)"">IGHD2)</a>
 著者        Phillips JA 3rd, Cogan JD
 タイトル      Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.
 雑誌        J Clin Endocrinol Metab 78:11-6 (1994)
 DOI:<a href=""https://doi.org/10.1210/jcem.78.1.8288694"">10.1210/jcem.78.1.8288694</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8013627"">8013627</a> (BTK)
 著者        Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M
 タイトル      An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
 雑誌        FEBS Lett 346:165-70 (1994)
 DOI:<a href=""https://doi.org/10.1016/0014-5793(94)00457-9"">10.1016/0014-5793(94)00457-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8528260"">8528260</a> (GHRHR)
 著者        Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL
 タイトル      Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
 雑誌        Nat Genet 12:88-90 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0196-88"">10.1038/ng0196-88</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24480542"">24480542</a> (RNPC3)
 著者        Argente J, Flores R, Gutierrez-Arumi A, Verma B, Martos-Moreno GA, Cusco I, Oghabian A, Chowen JA, Frilander MJ, Perez-Jurado LA
 タイトル      Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
 雑誌        EMBO Mol Med 6:299-306 (2014)
 DOI:<a href=""https://doi.org/10.1002/emmm.201303573"">10.1002/emmm.201303573</a>"
H02036,"複合下垂体ホルモン欠損症
 上位グループ    成長ホルモン分泌不全症 [DS:H00254]
 下垂体前葉機能低下症 [DS:H01700]",,,"Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.",内分泌疾患,,"(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
 (CPHD2) PROP1 [HSA:5626] [KO:K09327]
 (CPHD3) LHX3 [HSA:8022] [KO:K09374]
 (CPHD4) LHX4 [HSA:89884] [KO:K09374]
 (CPHD5) HESX1 [HSA:8820] [KO:K09354]
 (CPHD6) OTX2 [HSA:5015] [KO:K18490]
 (CPHD7) RNPC3 [HSA:55599] [KO:K13157]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: D004393
 OMIM: 613038 262600 221750 262700 182230 613986 618160","PMID:26147833
 著者        De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M
 タイトル      Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
 雑誌        Clin Endocrinol (Oxf) 83:849-60 (2015)
 DOI:10.1111/cen.12849
 PMID:15928241 (POU1F1)
 著者        Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
 タイトル      Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
 雑誌        J Clin Endocrinol Metab 90:4762-70 (2005)
 DOI:10.1210/jc.2005-0570
 PMID:11549703 (PROP1)
 著者        Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T
 タイトル      PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
 雑誌        J Clin Endocrinol Metab 86:4529-35 (2001)
 DOI:10.1210/jcem.86.9.7811
 PMID:17327381 (LHX3)
 著者        Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Bramswig JH, Stobbe HM, Blum WF, Rhodes SJ
 タイトル      Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
 雑誌        J Clin Endocrinol Metab 92:1909-19 (2007)
 DOI:10.1210/jc.2006-2177
 PMID:11567216 (LHX4)
 著者        Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S
 タイトル      Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
 雑誌        Am J Hum Genet 69:961-8 (2001)
 DOI:10.1086/323764
 PMID:11136712 (HESX1)
 著者        Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS
 タイトル      Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
 雑誌        Hum Mol Genet 10:39-45 (2001)
 DOI:10.1093/hmg/10.1.39
 PMID:18728160 (OTX2)
 著者        Diaczok D, Romero C, Zunich J, Marshall I, Radovick S
 タイトル      A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
 雑誌        J Clin Endocrinol Metab 93:4351-9 (2008)
 DOI:10.1210/jc.2008-1189
 PMID:32462814 (RNPC3)
 著者        Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM
 タイトル      Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
 雑誌        Am J Med Genet A 182:1952-1956 (2020)
 DOI:10.1002/ajmg.a.61632","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02036"">H02036</a>","複合下垂体ホルモン欠損症
 上位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.",,"(CPHD1) POU1F1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5449"">5449</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09363"">K09363</a>]
 (CPHD2) PROP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5626"">5626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09327"">K09327</a>]
 (CPHD3) LHX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8022"">8022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09374"">K09374</a>]
 (CPHD4) LHX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89884"">89884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09374"">K09374</a>]
 (CPHD5) HESX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8820"">8820</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09354"">K09354</a>]
 (CPHD6) OTX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5015"">5015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18490"">K18490</a>]
 (CPHD7) RNPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55599"">55599</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13157"">K13157</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004393"">D004393</a>
 OMIM: <a href=""https://www.omim.org/entry/613038"">613038</a> <a href=""https://www.omim.org/entry/262600"">262600</a> <a href=""https://www.omim.org/entry/221750"">221750</a> <a href=""https://www.omim.org/entry/262700"">262700</a> <a href=""https://www.omim.org/entry/182230"">182230</a> <a href=""https://www.omim.org/entry/613986"">613986</a> <a href=""https://www.omim.org/entry/618160"">618160</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26147833"">26147833</a>
 著者        De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M
 タイトル      Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
 雑誌        Clin Endocrinol (Oxf) 83:849-60 (2015)
 DOI:<a href=""https://doi.org/10.1111/cen.12849"">10.1111/cen.12849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15928241"">15928241</a> (POU1F1)
 著者        Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
 タイトル      Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
 雑誌        J Clin Endocrinol Metab 90:4762-70 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-0570"">10.1210/jc.2005-0570</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11549703"">11549703</a> (PROP1)
 著者        Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T
 タイトル      PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
 雑誌        J Clin Endocrinol Metab 86:4529-35 (2001)
 DOI:<a href=""https://doi.org/10.1210/jcem.86.9.7811"">10.1210/jcem.86.9.7811</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17327381"">17327381</a> (LHX3)
 著者        Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Bramswig JH, Stobbe HM, Blum WF, Rhodes SJ
 タイトル      Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
 雑誌        J Clin Endocrinol Metab 92:1909-19 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2006-2177"">10.1210/jc.2006-2177</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11567216"">11567216</a> (LHX4)
 著者        Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S
 タイトル      Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
 雑誌        Am J Hum Genet 69:961-8 (2001)
 DOI:<a href=""https://doi.org/10.1086/323764"">10.1086/323764</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11136712"">11136712</a> (HESX1)
 著者        Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS
 タイトル      Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
 雑誌        Hum Mol Genet 10:39-45 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.1.39"">10.1093/hmg/10.1.39</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18728160"">18728160</a> (OTX2)
 著者        Diaczok D, Romero C, Zunich J, Marshall I, Radovick S
 タイトル      A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
 雑誌        J Clin Endocrinol Metab 93:4351-9 (2008)
 DOI:<a href=""https://doi.org/10.1210/jc.2008-1189"">10.1210/jc.2008-1189</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32462814"">32462814</a> (RNPC3)
 著者        Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM
 タイトル      Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
 雑誌        Am J Med Genet A 182:1952-1956 (2020)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61632"">10.1002/ajmg.a.61632</a>"
H02037,"ラロン症候群;
 成長ホルモン不応性症候群;
 下垂体性低身長症 II型
 上位グループ    成長ホルモン分泌不全症 [DS:H00254]
 下垂体前葉機能低下症 [DS:H01700]",,,"Laron syndrome is a rare autosomal recessive disease characterized by insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective functioning of the GH-IGF1 signalling pathway. The main phenotypic feature is dwarfism, noticeable from birth. Patients have an elevated level of GH and undetectable, or very low IGF1 concentrations in serum.",内分泌疾患,nt06324  GHRH-GH-IGF signaling,GHR [HSA:2690] [KO:K05080],,,,メカセルミン [DR:D03297],,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: D046150
 OMIM: 262500","PMID:27381597
 著者        Janecka A, Kolodziej-Rzepa M, Biesaga B
 タイトル      Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.
 雑誌        In Vivo 30:375-81 (2016)
 PMID:8450064
 著者        Edery M, Rozakis-Adcock M, Goujon L, Finidori J, Levi-Meyrueis C, Paly J, Djiane J, Postel-Vinay MC, Kelly PA
 タイトル      Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
 雑誌        J Clin Invest 91:838-44 (1993)
 DOI:10.1172/JCI116304","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02037"">H02037</a>","ラロン症候群;
 成長ホルモン不応性症候群;
 下垂体性低身長症 II型
 上位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Laron syndrome is a rare autosomal recessive disease characterized by insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective functioning of the GH-IGF1 signalling pathway. The main phenotypic feature is dwarfism, noticeable from birth. Patients have an elevated level of GH and undetectable, or very low IGF1 concentrations in serum.","<a href=""https://www.kegg.jp/network/nt06324"">nt06324</a>  GHRH-GH-IGF signaling","GHR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2690"">2690</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05080"">K05080</a>]",,,,"メカセルミン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03297"">D03297</a>]",,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D046150"">D046150</a>
 OMIM: <a href=""https://www.omim.org/entry/262500"">262500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27381597"">27381597</a>
 著者        Janecka A, Kolodziej-Rzepa M, Biesaga B
 タイトル      Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.
 雑誌        In Vivo 30:375-81 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8450064"">8450064</a>
 著者        Edery M, Rozakis-Adcock M, Goujon L, Finidori J, Levi-Meyrueis C, Paly J, Djiane J, Postel-Vinay MC, Kelly PA
 タイトル      Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
 雑誌        J Clin Invest 91:838-44 (1993)
 DOI:<a href=""https://doi.org/10.1172/JCI116304"">10.1172/JCI116304</a>"
H02038,"X連鎖性汎下垂体機能低下症
 上位グループ    成長ホルモン分泌不全症 [DS:H00254]
 下垂体前葉機能低下症 [DS:H01700]",,,"X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.",内分泌疾患,,SOX3 [HSA:6658] [KO:K09267],,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: D007018
 OMIM: 312000","PMID:15800844
 著者        Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT
 タイトル      Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
 雑誌        Am J Hum Genet 76:833-49 (2005)
 DOI:10.1086/430134
 PMID:11031100
 著者        Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I
 タイトル      Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
 雑誌        Genomics 69:174-81 (2000)
 DOI:10.1006/geno.2000.6327
 PMID:29175558
 著者        Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H
 タイトル      A complex phenotype in a family with a pathogenic SOX3 missense variant.
 雑誌        Eur J Med Genet S1769-7212(17)30464-0 (2017)
 DOI:10.1016/j.ejmg.2017.11.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02038"">H02038</a>","X連鎖性汎下垂体機能低下症
 上位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.",,"SOX3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6658"">6658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09267"">K09267</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007018"">D007018</a>
 OMIM: <a href=""https://www.omim.org/entry/312000"">312000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15800844"">15800844</a>
 著者        Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT
 タイトル      Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
 雑誌        Am J Hum Genet 76:833-49 (2005)
 DOI:<a href=""https://doi.org/10.1086/430134"">10.1086/430134</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11031100"">11031100</a>
 著者        Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I
 タイトル      Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
 雑誌        Genomics 69:174-81 (2000)
 DOI:<a href=""https://doi.org/10.1006/geno.2000.6327"">10.1006/geno.2000.6327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29175558"">29175558</a>
 著者        Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H
 タイトル      A complex phenotype in a family with a pathogenic SOX3 missense variant.
 雑誌        Eur J Med Genet S1769-7212(17)30464-0 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2017.11.012"">10.1016/j.ejmg.2017.11.012</a>"
H02039,"Kowarski 症候群
 上位グループ    成長ホルモン分泌不全症 [DS:H00254]
 下垂体前葉機能低下症 [DS:H01700]",,,"Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal catch-up growth on GH-replacement therapy. Missense mutations in the GH1 gene leading to Kowarski syndrome have been reported.",内分泌疾患,,GH1 [HSA:2688] [KO:K05438],,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 OMIM: 262650","PMID:15713716
 著者        Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE
 タイトル      Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
 雑誌        J Clin Endocrinol Metab 90:2493-9 (2005)
 DOI:10.1210/jc.2004-1838","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02039"">H02039</a>","Kowarski 症候群
 上位グループ    成長ホルモン分泌不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00254"">H00254</a>]
 下垂体前葉機能低下症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01700"">H01700</a>]","Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal catch-up growth on GH-replacement therapy. Missense mutations in the GH1 gene leading to Kowarski syndrome have been reported.",,"GH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2688"">2688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05438"">K05438</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E23.0
 OMIM: <a href=""https://www.omim.org/entry/262650"">262650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15713716"">15713716</a>
 著者        Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE
 タイトル      Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
 雑誌        J Clin Endocrinol Metab 90:2493-9 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-1838"">10.1210/jc.2004-1838</a>"
H02040,IGF1 欠損症,,,"Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.",内分泌疾患,nt06324  GHRH-GH-IGF signaling,IGF1 [HSA:3479] [KO:K05459],,,,,,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: C563867
 OMIM: 608747","PMID:15769976
 著者        Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM
 タイトル      Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
 雑誌        J Clin Endocrinol Metab 90:2855-64 (2005)
 DOI:10.1210/jc.2004-1254
 PMID:14684690
 著者        Bonapace G, Concolino D, Formicola S, Strisciuglio P
 タイトル      A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
 雑誌        J Med Genet 40:913-7 (2003)
 DOI:10.1136/jmg.40.12.913
 PMID:15758538
 著者        Lee J, Menon RK
 タイトル      Molecular defects in the growth hormone-IGF axis.
 雑誌        Indian J Pediatr 72:145-8 (2005)
 DOI:10.1007/BF02760700","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02040"">H02040</a>",IGF1 欠損症,"Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.","<a href=""https://www.kegg.jp/network/nt06324"">nt06324</a>  GHRH-GH-IGF signaling","IGF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3479"">3479</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05459"">K05459</a>]",,,,,,"ICD-11: 5A61.0
 ICD-10: E34.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563867"">C563867</a>
 OMIM: <a href=""https://www.omim.org/entry/608747"">608747</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15769976"">15769976</a>
 著者        Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM
 タイトル      Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
 雑誌        J Clin Endocrinol Metab 90:2855-64 (2005)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-1254"">10.1210/jc.2004-1254</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14684690"">14684690</a>
 著者        Bonapace G, Concolino D, Formicola S, Strisciuglio P
 タイトル      A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
 雑誌        J Med Genet 40:913-7 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.12.913"">10.1136/jmg.40.12.913</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15758538"">15758538</a>
 著者        Lee J, Menon RK
 タイトル      Molecular defects in the growth hormone-IGF axis.
 雑誌        Indian J Pediatr 72:145-8 (2005)
 DOI:<a href=""https://doi.org/10.1007/BF02760700"">10.1007/BF02760700</a>"
H02041,近視,,,"Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene.",神経系疾患,,"(MYP6) SCO2 [HSA:9997] [KO:K23755]
 (MYP21) ZNF644 [HSA:84146] [KO:K24374]
 (MYP22) PRIMPOL [HSA:201973] [KO:K22761]
 (MYP23) LRPAP1 [HSA:4043] [KO:K22290]
 (MYP24) SLC39A5 [HSA:283375] [KO:K14711]
 (MYP25) P4HA2 [HSA:8974] [KO:K00472]
 (MYP26) ARR3 [HSA:407] [KO:K13801]
 (MYP27) CPSF1 [HSA:29894] [KO:K14401]
 (MCVD) P3H2 [HSA:55214] [KO:K22459]",,,,,,"ICD-11: 9D00.0
 ICD-10: H52.1
 MeSH: D009216
 OMIM: 160700 608908 614167 615420 615431 615946 617238 301010 614292 618827","PMID:23643385
 著者        Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL
 タイトル      Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
 雑誌        Am J Hum Genet 92:820-6 (2013)
 DOI:10.1016/j.ajhg.2013.04.005
 PMID:21695231
 著者        Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z
 タイトル      Exome sequencing identifies ZNF644 mutations in high myopia.
 雑誌        PLoS Genet 7:e1002084 (2011)
 DOI:10.1371/journal.pgen.1002084
 PMID:23579484
 著者        Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X
 タイトル      Exome sequencing reveals CCDC111 mutation associated with high myopia.
 雑誌        Hum Genet 132:913-21 (2013)
 DOI:10.1007/s00439-013-1303-6
 PMID:23830514
 著者        Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS
 タイトル      Mutations in LRPAP1 are associated with severe myopia in humans.
 雑誌        Am J Hum Genet 93:313-20 (2013)
 DOI:10.1016/j.ajhg.2013.06.002
 PMID:24891338
 著者        Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K
 タイトル      SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia.
 雑誌        J Med Genet 51:518-25 (2014)
 DOI:10.1136/jmedgenet-2014-102351
 PMID:25741866
 著者        Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K
 タイトル      Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.
 雑誌        Genet Med 17:300-6 (2015)
 DOI:10.1038/gim.2015.28
 PMID:27829781
 著者        Xiao X, Li S, Jia X, Guo X, Zhang Q
 タイトル      X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.
 雑誌        Mol Vis 22:1257-1266 (2016)
 PMID:24172257
 著者        Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z, Xia K
 タイトル      Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
 雑誌        Clin Genet 86:575-9 (2014)
 DOI:10.1111/cge.12309
 PMID:30689892
 著者        Ouyang J, Sun W, Xiao X, Li S, Jia X, Zhou L, Wang P, Zhang Q
 タイトル      CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
 雑誌        Hum Mol Genet 28:1959-1970 (2019)
 DOI:10.1093/hmg/ddz029","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02041"">H02041</a>",近視,"Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene.",,"(MYP6) SCO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9997"">9997</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23755"">K23755</a>]
 (MYP21) ZNF644 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84146"">84146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24374"">K24374</a>]
 (MYP22) PRIMPOL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:201973"">201973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22761"">K22761</a>]
 (MYP23) LRPAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4043"">4043</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22290"">K22290</a>]
 (MYP24) SLC39A5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:283375"">283375</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14711"">K14711</a>]
 (MYP25) P4HA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8974"">8974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00472"">K00472</a>]
 (MYP26) ARR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:407"">407</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13801"">K13801</a>]
 (MYP27) CPSF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29894"">29894</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14401"">K14401</a>]
 (MCVD) P3H2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55214"">55214</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22459"">K22459</a>]",,,,,,"ICD-11: 9D00.0
 ICD-10: H52.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009216"">D009216</a>
 OMIM: <a href=""https://www.omim.org/entry/160700"">160700</a> <a href=""https://www.omim.org/entry/608908"">608908</a> <a href=""https://www.omim.org/entry/614167"">614167</a> <a href=""https://www.omim.org/entry/615420"">615420</a> <a href=""https://www.omim.org/entry/615431"">615431</a> <a href=""https://www.omim.org/entry/615946"">615946</a> <a href=""https://www.omim.org/entry/617238"">617238</a> <a href=""https://www.omim.org/entry/301010"">301010</a> <a href=""https://www.omim.org/entry/614292"">614292</a> <a href=""https://www.omim.org/entry/618827"">618827</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23643385"">23643385</a>
 著者        Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL
 タイトル      Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
 雑誌        Am J Hum Genet 92:820-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.005"">10.1016/j.ajhg.2013.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21695231"">21695231</a>
 著者        Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z
 タイトル      Exome sequencing identifies ZNF644 mutations in high myopia.
 雑誌        PLoS Genet 7:e1002084 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002084"">10.1371/journal.pgen.1002084</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23579484"">23579484</a>
 著者        Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X
 タイトル      Exome sequencing reveals CCDC111 mutation associated with high myopia.
 雑誌        Hum Genet 132:913-21 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1303-6"">10.1007/s00439-013-1303-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23830514"">23830514</a>
 著者        Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS
 タイトル      Mutations in LRPAP1 are associated with severe myopia in humans.
 雑誌        Am J Hum Genet 93:313-20 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.002"">10.1016/j.ajhg.2013.06.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24891338"">24891338</a>
 著者        Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K
 タイトル      SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia.
 雑誌        J Med Genet 51:518-25 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102351"">10.1136/jmedgenet-2014-102351</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25741866"">25741866</a>
 著者        Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K
 タイトル      Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.
 雑誌        Genet Med 17:300-6 (2015)
 DOI:<a href=""https://doi.org/10.1038/gim.2015.28"">10.1038/gim.2015.28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27829781"">27829781</a>
 著者        Xiao X, Li S, Jia X, Guo X, Zhang Q
 タイトル      X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.
 雑誌        Mol Vis 22:1257-1266 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24172257"">24172257</a>
 著者        Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z, Xia K
 タイトル      Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
 雑誌        Clin Genet 86:575-9 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12309"">10.1111/cge.12309</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30689892"">30689892</a>
 著者        Ouyang J, Sun W, Xiao X, Li S, Jia X, Zhou L, Wang P, Zhang Q
 タイトル      CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
 雑誌        Hum Mol Genet 28:1959-1970 (2019)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddz029"">10.1093/hmg/ddz029</a>"
H02042,家族性広汎性骨溶解症,,,"Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease.",筋骨格疾患,,TNFRSF11A [HSA:8792] [KO:K05147],,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: C536335
 OMIM: 174810","PMID:17447113
 著者        Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE
 タイトル      Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
 雑誌        J Bone Miner Metab 25:159-64 (2007)
 DOI:10.1007/s00774-007-0748-x
 PMID:27258166
 著者        Topham DG, Sampson MJ
 タイトル      Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic.
 雑誌        J Med Imaging Radiat Oncol 60:370-3 (2016)
 DOI:10.1111/1754-9485.12355","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02042"">H02042</a>",家族性広汎性骨溶解症,"Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease.",,"TNFRSF11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8792"">8792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05147"">K05147</a>]",,,,,,"ICD-11: FB86.2
 ICD-10: M89.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536335"">C536335</a>
 OMIM: <a href=""https://www.omim.org/entry/174810"">174810</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17447113"">17447113</a>
 著者        Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE
 タイトル      Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
 雑誌        J Bone Miner Metab 25:159-64 (2007)
 DOI:<a href=""https://doi.org/10.1007/s00774-007-0748-x"">10.1007/s00774-007-0748-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27258166"">27258166</a>
 著者        Topham DG, Sampson MJ
 タイトル      Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic.
 雑誌        J Med Imaging Radiat Oncol 60:370-3 (2016)
 DOI:<a href=""https://doi.org/10.1111/1754-9485.12355"">10.1111/1754-9485.12355</a>"
H02043,毛細血管奇形および動静脈奇形,,,"Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.",先天奇形,,"(CMAVM1) RASA1 [HSA:5921] [KO:K04352]
 (CMAVM2) EPHB4 [HSA:2050] [KO:K05113]",,,,,,"ICD-11: LA90.3Y
 ICD-10: Q27.9
 MeSH: C564254
 OMIM: 608354 618196","PMID:14639529
 著者        Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M
 タイトル      Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
 雑誌        Am J Hum Genet 73:1240-9 (2003)
 DOI:10.1086/379793
 PMID:24168113
 著者        Larralde M, Abad ME, Luna PC, Hoffner MV
 タイトル      Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.
 雑誌        Int J Dermatol 53:458-61 (2014)
 DOI:10.1111/ijd.12040
 PMID:28687708
 著者        Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, Gonzalez-Ensenat MA, Frieden I, Gerard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Leaute-Labreze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M
 タイトル      Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
 雑誌        Circulation 136:1037-1048 (2017)
 DOI:10.1161/CIRCULATIONAHA.116.026886","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02043"">H02043</a>",毛細血管奇形および動静脈奇形,"Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.",,"(CMAVM1) RASA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5921"">5921</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04352"">K04352</a>]
 (CMAVM2) EPHB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2050"">2050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05113"">K05113</a>]",,,,,,"ICD-11: LA90.3Y
 ICD-10: Q27.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564254"">C564254</a>
 OMIM: <a href=""https://www.omim.org/entry/608354"">608354</a> <a href=""https://www.omim.org/entry/618196"">618196</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14639529"">14639529</a>
 著者        Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M
 タイトル      Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
 雑誌        Am J Hum Genet 73:1240-9 (2003)
 DOI:<a href=""https://doi.org/10.1086/379793"">10.1086/379793</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24168113"">24168113</a>
 著者        Larralde M, Abad ME, Luna PC, Hoffner MV
 タイトル      Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.
 雑誌        Int J Dermatol 53:458-61 (2014)
 DOI:<a href=""https://doi.org/10.1111/ijd.12040"">10.1111/ijd.12040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28687708"">28687708</a>
 著者        Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, Gonzalez-Ensenat MA, Frieden I, Gerard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Leaute-Labreze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M
 タイトル      Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
 雑誌        Circulation 136:1037-1048 (2017)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.116.026886"">10.1161/CIRCULATIONAHA.116.026886</a>"
H02044,粘膜皮膚静脈奇形 (VMCM),,,"The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.",先天奇形,,TEK [HSA:7010] [KO:K05121],,,,,,"ICD-11: LC51
 ICD-10: Q27.8
 MeSH: C563977
 OMIM: 600195","PMID:19079259
 著者        Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M
 タイトル      Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
 雑誌        Nat Genet 41:118-24 (2009)
 DOI:10.1038/ng.272
 PMID:20301733
 著者        Boon LM, Vikkula M
 タイトル      Multiple Cutaneous and Mucosal Venous Malformations
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02044"">H02044</a>",粘膜皮膚静脈奇形 (VMCM),"The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.",,"TEK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7010"">7010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05121"">K05121</a>]",,,,,,"ICD-11: LC51
 ICD-10: Q27.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563977"">C563977</a>
 OMIM: <a href=""https://www.omim.org/entry/600195"">600195</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19079259"">19079259</a>
 著者        Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M
 タイトル      Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
 雑誌        Nat Genet 41:118-24 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.272"">10.1038/ng.272</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301733"">20301733</a>
 著者        Boon LM, Vikkula M
 タイトル      Multiple Cutaneous and Mucosal Venous Malformations
 雑誌        GeneReviews (1993)"
H02045,Norrie 病,,,"Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported.",先天奇形,,NDP [HSA:4693] [KO:K25688],,,,,,"ICD-11: LD21.Y
 ICD-10: Q15.8
 MeSH: C537849
 OMIM: 310600","PMID:7627181
 著者        Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB
 タイトル      Mutations in the Norrie disease gene.
 雑誌        Hum Mutat 5:285-92 (1995)
 DOI:10.1002/humu.1380050403","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02045"">H02045</a>",Norrie 病,"Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported.",,"NDP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4693"">4693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25688"">K25688</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q15.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537849"">C537849</a>
 OMIM: <a href=""https://www.omim.org/entry/310600"">310600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7627181"">7627181</a>
 著者        Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB
 タイトル      Mutations in the Norrie disease gene.
 雑誌        Hum Mutat 5:285-92 (1995)
 DOI:<a href=""https://doi.org/10.1002/humu.1380050403"">10.1002/humu.1380050403</a>"
H02046,"OFC 症候群;
 耳顔頚部症候群",,,"Otofaciocervical syndrome (OFC) is an inherited disorder characterized by facial dysmorphism, external ear anomalies and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene.",先天奇形,,"(OFC1) EYA1 [HSA:2138] [KO:K15616]
 (OFC2) PAX1 [HSA:5075] [KO:K09382]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C563481
 OMIM: 166780 615560","PMID:16441263
 著者        Estefania E, Ramirez-Camacho R, Gomar M, Trinidad A, Arellano B, Garcia-Berrocal JR, Verdaguer JM, Vilches C
 タイトル      Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
 雑誌        Ann Hum Genet 70:140-4 (2006)
 DOI:10.1111/j.1529-8817.2005.00204.x
 PMID:23851939
 著者        Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Yigit G, Ozkinay F, Wollnik B
 タイトル      A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
 雑誌        Hum Genet 132:1311-20 (2013)
 DOI:10.1007/s00439-013-1337-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02046"">H02046</a>","OFC 症候群;
 耳顔頚部症候群","Otofaciocervical syndrome (OFC) is an inherited disorder characterized by facial dysmorphism, external ear anomalies and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene.",,"(OFC1) EYA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2138"">2138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15616"">K15616</a>]
 (OFC2) PAX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5075"">5075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09382"">K09382</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563481"">C563481</a>
 OMIM: <a href=""https://www.omim.org/entry/166780"">166780</a> <a href=""https://www.omim.org/entry/615560"">615560</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16441263"">16441263</a>
 著者        Estefania E, Ramirez-Camacho R, Gomar M, Trinidad A, Arellano B, Garcia-Berrocal JR, Verdaguer JM, Vilches C
 タイトル      Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
 雑誌        Ann Hum Genet 70:140-4 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1529-8817.2005.00204.x"">10.1111/j.1529-8817.2005.00204.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23851939"">23851939</a>
 著者        Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Yigit G, Ozkinay F, Wollnik B
 タイトル      A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
 雑誌        Hum Genet 132:1311-20 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00439-013-1337-9"">10.1007/s00439-013-1337-9</a>"
H02047,Bohring-Opitz 症候群,,,"Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:H01008], therefore known as C-like syndrome. Recently, It has been reported that de novo nonsense mutations in ASXL1 cause BOPS.",先天奇形,,ASXL1 [HSA:171023] [KO:K11471],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: C537419
 OMIM: 605039","PMID:16691589
 著者        Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P
 タイトル      New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
 雑誌        Am J Med Genet A 140:1257-63 (2006)
 DOI:10.1002/ajmg.a.31265
 PMID:21706002
 著者        Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB
 タイトル      De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
 雑誌        Nat Genet 43:729-31 (2011)
 DOI:10.1038/ng.868","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02047"">H02047</a>",Bohring-Opitz 症候群,"Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01008],"">H01008],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:therefore"">therefore</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:known"">known</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:C-like"">C-like</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:syndrome."">syndrome.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Recently,"">Recently,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported"">reported</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:de"">de</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:novo"">novo</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nonsense"">nonsense</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ASXL1"">ASXL1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BOPS."">BOPS.</a>",,"ASXL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:171023"">171023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537419"">C537419</a>
 OMIM: <a href=""https://www.omim.org/entry/605039"">605039</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16691589"">16691589</a>
 著者        Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P
 タイトル      New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
 雑誌        Am J Med Genet A 140:1257-63 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31265"">10.1002/ajmg.a.31265</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21706002"">21706002</a>
 著者        Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB
 タイトル      De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
 雑誌        Nat Genet 43:729-31 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.868"">10.1038/ng.868</a>"
H02048,"ラーセン症候群
 下位グループ    Larsen 様症候群 [DS:H01498]
 関節弛緩・低身長および近視 [DS:H02502]",,,"Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.",先天奇形,,FLNB [HSA:2317] [KO:K04437],,,,,,"ICD-11: LD24.E
 ICD-10: Q74.8
 OMIM: 150250","PMID:16801345
 著者        Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
 タイトル      A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
 雑誌        J Med Genet 44:89-98 (2007)
 DOI:10.1136/jmg.2006.043687
 PMID:10735637
 著者        Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M
 タイトル      Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.
 雑誌        Clin Genet 57:148-50 (2000)
 DOI:10.1034/j.1399-0004.2000.570210.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02048"">H02048</a>","ラーセン症候群
 下位グループ    Larsen 様症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01498"">H01498</a>]
 関節弛緩・低身長および近視 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02502"">H02502</a>]","Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.",,"FLNB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2317"">2317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD24.E
 ICD-10: Q74.8
 OMIM: <a href=""https://www.omim.org/entry/150250"">150250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16801345"">16801345</a>
 著者        Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
 タイトル      A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
 雑誌        J Med Genet 44:89-98 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.043687"">10.1136/jmg.2006.043687</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10735637"">10735637</a>
 著者        Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M
 タイトル      Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.
 雑誌        Clin Genet 57:148-50 (2000)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2000.570210.x"">10.1034/j.1399-0004.2000.570210.x</a>"
H02049,"両側副腎皮質大結節性過形成
 上位グループ    クッシング症候群 [DS:H01431]",,,"Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal cause of Cushing's syndrome (CS). An increased activity of the cAMP/PKA pathway is found in the various forms of BMAH. Actors of the cAMP/PKA signaling pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a new gene, ARMC5, was identified as a frequent cause of sporadic or familial BMAH.",内分泌代謝疾患,nt06310  CRH-ACTH-cortisol signaling,"ARMC5 [HSA:79798] [KO:K22499]
 MEN1 [HSA:4221] [KO:K14970]
 FH [HSA:2271] [KO:K01679]
 PDE11A [HSA:50940] [KO:K13298]
 GNAS1 [HSA:2778] [KO:K04632]
 APC [HSA:324] [KO:K02085]
 MC2R [HSA:4158] [KO:K04200]
 PRKACA [HSA:5566] [KO:K04345]",,,,,,"ICD-11: 5A70.Y
 ICD-10: E27.8
 MeSH: C565662
 OMIM: 219080 615954","PMID:24739311
 著者        De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A
 タイトル      Primary bilateral macronodular adrenal hyperplasia.
 雑誌        Curr Opin Endocrinol Diabetes Obes 21:177-84 (2014)
 DOI:10.1097/MED.0000000000000061
 PMID:25853793
 著者        Espiard S, Drougat L, Libe R, Assie G, Perlemoine K, Guignat L, Barrande G, Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D, Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J, Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J
 タイトル      ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
 雑誌        J Clin Endocrinol Metab 100:E926-35 (2015)
 DOI:10.1210/jc.2014-4204
 PMID:24283229
 著者        Lacroix A
 タイトル      Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia.
 雑誌        N Engl J Med 369:2147-9 (2013)
 DOI:10.1056/NEJMe1312792
 PMID:26739091
 著者        Faillot S, Assie G
 タイトル      ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
 雑誌        Eur J Endocrinol 174:R249-65 (2016)
 DOI:10.1530/EJE-15-1118
 PMID:26264719
 著者        Drougat L, Espiard S, Bertherat J
 タイトル      Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
 雑誌        Eur J Endocrinol 173:M121-31 (2015)
 DOI:10.1530/EJE-15-0532","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02049"">H02049</a>","両側副腎皮質大結節性過形成
 上位グループ    クッシング症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01431"">H01431</a>]","Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal cause of Cushing's syndrome (CS). An increased activity of the cAMP/PKA pathway is found in the various forms of BMAH. Actors of the cAMP/PKA signaling pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a new gene, ARMC5, was identified as a frequent cause of sporadic or familial BMAH.","<a href=""https://www.kegg.jp/network/nt06310"">nt06310</a>  CRH-ACTH-cortisol signaling","ARMC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79798"">79798</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22499"">K22499</a>]
 MEN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4221"">4221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14970"">K14970</a>]
 FH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2271"">2271</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01679"">K01679</a>]
 PDE11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50940"">50940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13298"">K13298</a>]
 GNAS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2778"">2778</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04632"">K04632</a>]
 APC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 MC2R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4158"">4158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04200"">K04200</a>]
 PRKACA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5566"">5566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]",,,,,,"ICD-11: 5A70.Y
 ICD-10: E27.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565662"">C565662</a>
 OMIM: <a href=""https://www.omim.org/entry/219080"">219080</a> <a href=""https://www.omim.org/entry/615954"">615954</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24739311"">24739311</a>
 著者        De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A
 タイトル      Primary bilateral macronodular adrenal hyperplasia.
 雑誌        Curr Opin Endocrinol Diabetes Obes 21:177-84 (2014)
 DOI:<a href=""https://doi.org/10.1097/MED.0000000000000061"">10.1097/MED.0000000000000061</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25853793"">25853793</a>
 著者        Espiard S, Drougat L, Libe R, Assie G, Perlemoine K, Guignat L, Barrande G, Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D, Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J, Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J
 タイトル      ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
 雑誌        J Clin Endocrinol Metab 100:E926-35 (2015)
 DOI:<a href=""https://doi.org/10.1210/jc.2014-4204"">10.1210/jc.2014-4204</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24283229"">24283229</a>
 著者        Lacroix A
 タイトル      Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia.
 雑誌        N Engl J Med 369:2147-9 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMe1312792"">10.1056/NEJMe1312792</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26739091"">26739091</a>
 著者        Faillot S, Assie G
 タイトル      ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
 雑誌        Eur J Endocrinol 174:R249-65 (2016)
 DOI:<a href=""https://doi.org/10.1530/EJE-15-1118"">10.1530/EJE-15-1118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26264719"">26264719</a>
 著者        Drougat L, Espiard S, Bertherat J
 タイトル      Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
 雑誌        Eur J Endocrinol 173:M121-31 (2015)
 DOI:<a href=""https://doi.org/10.1530/EJE-15-0532"">10.1530/EJE-15-0532</a>"
H02050,前思春期性歯周炎,,,Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and recessive forms have been reported for PPP. Mutations in cathepsin C gene cause this disease.,消化器系疾患,,CTSC [HSA:1075] [KO:K01275],,,,,,"ICD-11: DA0C.1
 ICD-10: K05.4
 MeSH: D010518
 OMIM: 170650","PMID:10662808
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S
 タイトル      Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
 雑誌        J Med Genet 37:95-101 (2000)
 DOI:10.1136/jmg.37.2.95","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02050"">H02050</a>",前思春期性歯周炎,Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and recessive forms have been reported for PPP. Mutations in cathepsin C gene cause this disease.,,"CTSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1075"">1075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01275"">K01275</a>]",,,,,,"ICD-11: DA0C.1
 ICD-10: K05.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010518"">D010518</a>
 OMIM: <a href=""https://www.omim.org/entry/170650"">170650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10662808"">10662808</a>
 著者        Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S
 タイトル      Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
 雑誌        J Med Genet 37:95-101 (2000)
 DOI:<a href=""https://doi.org/10.1136/jmg.37.2.95"">10.1136/jmg.37.2.95</a>"
H02051,"メイ・ヘグリン異常
 上位グループ    MYH9 異常症 [DS:H00233]
 巨大血小板性血小板減少症 [DS:H01740]",,,"The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease.",循環器疾患,,MYH9 [HSA:4627] [KO:K10352],,,,,,"ICD-11: 4B0Y
 ICD-10: D72.0
 OMIM: 155100","PMID:10973259
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:10.1038/79063
 PMID:28722981
 著者        Untanu RV, Vajpayee N
 タイトル      May Hegglin Anomaly
 雑誌        StatPearls (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02051"">H02051</a>","メイ・ヘグリン異常
 上位グループ    MYH9 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>]
 巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease.",,"MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: 4B0Y
 ICD-10: D72.0
 OMIM: <a href=""https://www.omim.org/entry/155100"">155100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973259"">10973259</a>
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/79063"">10.1038/79063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28722981"">28722981</a>
 著者        Untanu RV, Vajpayee N
 タイトル      May Hegglin Anomaly
 雑誌        StatPearls (2020)"
H02052,"セバスチャン症候群
 上位グループ    MYH9 異常症 [DS:H00233]
 巨大血小板性血小板減少症 [DS:H01740]",,,Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result in this disease.,循環器疾患,,MYH9 [HSA:4627] [KO:K10352],,,,,,"ICD-11: 3B64.01
 ICD-10: D72.0
 OMIM: 605249","PMID:10973259
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:10.1038/79063
 PMID:11897048
 著者        White JG, Mattson JC, Nichols WL, Luban NL, Greinacher A
 タイトル      A variant of the Sebastian platelet syndrome with unique neutrophil inclusions.
 雑誌        Platelets 13:121-7 (2002)
 DOI:10.1080/09537100120112549","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02052"">H02052</a>","セバスチャン症候群
 上位グループ    MYH9 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>]
 巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]",Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result in this disease.,,"MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D72.0
 OMIM: <a href=""https://www.omim.org/entry/605249"">605249</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973259"">10973259</a>
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/79063"">10.1038/79063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11897048"">11897048</a>
 著者        White JG, Mattson JC, Nichols WL, Luban NL, Greinacher A
 タイトル      A variant of the Sebastian platelet syndrome with unique neutrophil inclusions.
 雑誌        Platelets 13:121-7 (2002)
 DOI:<a href=""https://doi.org/10.1080/09537100120112549"">10.1080/09537100120112549</a>"
H02053,"フェクトナー症候群
 上位グループ    MYH9 異常症 [DS:H00233]
 巨大血小板性血小板減少症 [DS:H01740]",,,"Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). It is linked to mutations in MYH9, the nonmuscle myosin heavy chain.",循環器疾患,,MYH9 [HSA:4627] [KO:K10352],,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 OMIM: 153640","PMID:10973259
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:10.1038/79063
 PMID:21210153
 著者        Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
 タイトル      Renal manifestations of patients with MYH9-related disorders.
 雑誌        Pediatr Nephrol 26:549-55 (2011)
 DOI:10.1007/s00467-010-1735-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02053"">H02053</a>","フェクトナー症候群
 上位グループ    MYH9 異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00233"">H00233</a>]
 巨大血小板性血小板減少症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01740"">H01740</a>]","Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). It is linked to mutations in MYH9, the nonmuscle myosin heavy chain.",,"MYH9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4627"">4627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: 3B64.01
 ICD-10: D69.4
 OMIM: <a href=""https://www.omim.org/entry/153640"">153640</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10973259"">10973259</a>
 著者        Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
 タイトル      Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
 雑誌        Nat Genet 26:103-5 (2000)
 DOI:<a href=""https://doi.org/10.1038/79063"">10.1038/79063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21210153"">21210153</a>
 著者        Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
 タイトル      Renal manifestations of patients with MYH9-related disorders.
 雑誌        Pediatr Nephrol 26:549-55 (2011)
 DOI:<a href=""https://doi.org/10.1007/s00467-010-1735-3"">10.1007/s00467-010-1735-3</a>"
H02054,"クリグラー・ナジャー症候群
 上位グループ    高ビリルビン血症 [DS:H00208]",,,"Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity.",先天性代謝異常症,,UGT1A1 [HSA:54658] [KO:K00699],,,,,,"ICD-11: 5C58.00
 ICD-10: E80.5
 MeSH: D003414
 OMIM: 218800 606785","PMID:16386929
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:10.1016/j.bcmd.2005.10.006
 PMID:11013440
 著者        Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
 タイトル      Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
 雑誌        Hum Mutat 16:297-306 (2000)
 DOI:10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
 PMID:1634606
 著者        Ritter JK, Yeatman MT, Ferreira P, Owens IS
 タイトル      Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
 雑誌        J Clin Invest 90:150-5 (1992)
 DOI:10.1172/JCI115829","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02054"">H02054</a>","クリグラー・ナジャー症候群
 上位グループ    高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>]","Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity.",,"UGT1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54658"">54658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00699"">K00699</a>]",,,,,,"ICD-11: 5C58.00
 ICD-10: E80.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003414"">D003414</a>
 OMIM: <a href=""https://www.omim.org/entry/218800"">218800</a> <a href=""https://www.omim.org/entry/606785"">606785</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16386929"">16386929</a>
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bcmd.2005.10.006"">10.1016/j.bcmd.2005.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11013440"">11013440</a>
 著者        Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
 タイトル      Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
 雑誌        Hum Mutat 16:297-306 (2000)
 DOI:<a href=""https://doi.org/10.1002/1098-1004(200010)16:"">10.1002/1098-1004(200010)16:</a><a href=""https://doi.org/4<297:"">4<297:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-Z"">AID-HUMU2>3.0.CO;2-Z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1634606"">1634606</a>
 著者        Ritter JK, Yeatman MT, Ferreira P, Owens IS
 タイトル      Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
 雑誌        J Clin Invest 90:150-5 (1992)
 DOI:<a href=""https://doi.org/10.1172/JCI115829"">10.1172/JCI115829</a>"
H02055,"ジルベール症候群
 上位グループ    高ビリルビン血症 [DS:H00208]",,,"Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.",先天性代謝異常症,,UGT1A1 [HSA:54658] [KO:K00699],,,,,,"ICD-11: 5C58.01
 ICD-10: E80.4
 MeSH: D005878
 OMIM: 143500","PMID:16386929
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:10.1016/j.bcmd.2005.10.006
 PMID:7565971
 著者        Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al.
 タイトル      The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
 雑誌        N Engl J Med 333:1171-5 (1995)
 DOI:10.1056/NEJM199511023331802
 PMID:14616765
 著者        Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
 タイトル      Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
 雑誌        Clin Genet 64:420-3 (2003)
 DOI:10.1034/j.1399-0004.2003.00136.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02055"">H02055</a>","ジルベール症候群
 上位グループ    高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>]","Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.",,"UGT1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54658"">54658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00699"">K00699</a>]",,,,,,"ICD-11: 5C58.01
 ICD-10: E80.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005878"">D005878</a>
 OMIM: <a href=""https://www.omim.org/entry/143500"">143500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16386929"">16386929</a>
 著者        Costa E
 タイトル      Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
 雑誌        Blood Cells Mol Dis 36:77-80 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.bcmd.2005.10.006"">10.1016/j.bcmd.2005.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7565971"">7565971</a>
 著者        Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al.
 タイトル      The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
 雑誌        N Engl J Med 333:1171-5 (1995)
 DOI:<a href=""https://doi.org/10.1056/NEJM199511023331802"">10.1056/NEJM199511023331802</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14616765"">14616765</a>
 著者        Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
 タイトル      Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
 雑誌        Clin Genet 64:420-3 (2003)
 DOI:<a href=""https://doi.org/10.1034/j.1399-0004.2003.00136.x"">10.1034/j.1399-0004.2003.00136.x</a>"
H02056,"デュビン・ジョンソン症候群
 上位グループ    高ビリルビン血症 [DS:H00208]",,,"Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump.",先天性代謝異常症,,ABCC2 [HSA:1244] [KO:K05666],,,,,,"ICD-11: 5C58.02
 ICD-10: E80.6
 MeSH: D007566
 OMIM: 237500","PMID:9878557
 著者        Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, Yamamoto K
 タイトル      A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.
 雑誌        Biochem Biophys Res Commun 253:454-7 (1998)
 DOI:10.1006/bbrc.1998.9780
 PMID:26350512
 著者        Slachtova L, Seda O, Behunova J, Mistrik M, Martasek P
 タイトル      Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
 雑誌        Eur J Hum Genet 24:704-9 (2016)
 DOI:10.1038/ejhg.2015.181","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02056"">H02056</a>","デュビン・ジョンソン症候群
 上位グループ    高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>]","Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump.",,"ABCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1244"">1244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05666"">K05666</a>]",,,,,,"ICD-11: 5C58.02
 ICD-10: E80.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007566"">D007566</a>
 OMIM: <a href=""https://www.omim.org/entry/237500"">237500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9878557"">9878557</a>
 著者        Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, Yamamoto K
 タイトル      A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.
 雑誌        Biochem Biophys Res Commun 253:454-7 (1998)
 DOI:<a href=""https://doi.org/10.1006/bbrc.1998.9780"">10.1006/bbrc.1998.9780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26350512"">26350512</a>
 著者        Slachtova L, Seda O, Behunova J, Mistrik M, Martasek P
 タイトル      Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
 雑誌        Eur J Hum Genet 24:704-9 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.181"">10.1038/ejhg.2015.181</a>"
H02057,"ローター症候群
 上位グループ    高ビリルビン血症 [DS:H00208]",,,"Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.",先天性代謝異常症,,"SLCO1B1 [HSA:10599] [KO:K05043]
 SLCO1B3 [HSA:28234] [KO:K05043]",,,,,,"ICD-11: 5C58.0Y
 ICD-10: E80.6
 MeSH: D006933
 OMIM: 237450","PMID:20955959
 著者        Strassburg CP
 タイトル      Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
 雑誌        Best Pract Res Clin Gastroenterol 24:555-71 (2010)
 DOI:10.1016/j.bpg.2010.07.007
 PMID:22232210
 著者        van de Steeg E, Stranecky V, Hartmannova H, Noskova L, Hrebicek M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticova E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
 タイトル      Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
 雑誌        J Clin Invest 122:519-28 (2012)
 DOI:10.1172/JCI59526","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02057"">H02057</a>","ローター症候群
 上位グループ    高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>]","Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.",,"SLCO1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10599"">10599</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05043"">K05043</a>]
 SLCO1B3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28234"">28234</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05043"">K05043</a>]",,,,,,"ICD-11: 5C58.0Y
 ICD-10: E80.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006933"">D006933</a>
 OMIM: <a href=""https://www.omim.org/entry/237450"">237450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20955959"">20955959</a>
 著者        Strassburg CP
 タイトル      Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
 雑誌        Best Pract Res Clin Gastroenterol 24:555-71 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.bpg.2010.07.007"">10.1016/j.bpg.2010.07.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22232210"">22232210</a>
 著者        van de Steeg E, Stranecky V, Hartmannova H, Noskova L, Hrebicek M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticova E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
 タイトル      Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
 雑誌        J Clin Invest 122:519-28 (2012)
 DOI:<a href=""https://doi.org/10.1172/JCI59526"">10.1172/JCI59526</a>"
H02058,Kohlschutter-Tonz 症候群,,,"Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis.",神経系疾患,,ROGDI [HSA:79641] [KO:K24628],,,,,,"ICD-11: LD27.0Y
 ICD-10: G40.8
 OMIM: 226750","PMID:22424600
 著者        Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschutter A, Trajanoski Z, Zschocke J
 タイトル      Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome.
 雑誌        Am J Hum Genet 90:701-7 (2012)
 DOI:10.1016/j.ajhg.2012.02.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02058"">H02058</a>",Kohlschutter-Tonz 症候群,"Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis.",,"ROGDI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79641"">79641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24628"">K24628</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: G40.8
 OMIM: <a href=""https://www.omim.org/entry/226750"">226750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22424600"">22424600</a>
 著者        Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschutter A, Trajanoski Z, Zschocke J
 タイトル      Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome.
 雑誌        Am J Hum Genet 90:701-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.012"">10.1016/j.ajhg.2012.02.012</a>"
H02059,"レプチン欠損症
 上位グループ    遺伝性肥満 [DS:H02106]",,,Congenital leptin deficiency is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been reported.,内分泌代謝疾患,,LEP [HSA:3952] [KO:K05424],,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 OMIM: 614962","PMID:9202122
 著者        Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S
 タイトル      Congenital leptin deficiency is associated with severe early-onset obesity in humans.
 雑誌        Nature 387:903-8 (1997)
 DOI:10.1038/43185
 PMID:15472169
 著者        Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA
 タイトル      Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
 雑誌        J Clin Endocrinol Metab 89:4821-6 (2004)
 DOI:10.1210/jc.2004-0376","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02059"">H02059</a>","レプチン欠損症
 上位グループ    遺伝性肥満 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02106"">H02106</a>]",Congenital leptin deficiency is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been reported.,,"LEP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3952"">3952</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05424"">K05424</a>]",,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 OMIM: <a href=""https://www.omim.org/entry/614962"">614962</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9202122"">9202122</a>
 著者        Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S
 タイトル      Congenital leptin deficiency is associated with severe early-onset obesity in humans.
 雑誌        Nature 387:903-8 (1997)
 DOI:<a href=""https://doi.org/10.1038/43185"">10.1038/43185</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15472169"">15472169</a>
 著者        Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA
 タイトル      Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
 雑誌        J Clin Endocrinol Metab 89:4821-6 (2004)
 DOI:<a href=""https://doi.org/10.1210/jc.2004-0376"">10.1210/jc.2004-0376</a>"
H02060,"レプチン受容体欠損症
 上位グループ    遺伝性肥満 [DS:H02106]",,,Leptin receptor deficiency is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease.,内分泌代謝疾患,,LEPR [HSA:3953] [KO:K05062],,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 OMIM: 614963","PMID:17229951
 著者        Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S
 タイトル      Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
 雑誌        N Engl J Med 356:237-47 (2007)
 DOI:10.1056/NEJMoa063988
 PMID:9537324
 著者        Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B
 タイトル      A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
 雑誌        Nature 392:398-401 (1998)
 DOI:10.1038/32911","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02060"">H02060</a>","レプチン受容体欠損症
 上位グループ    遺伝性肥満 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02106"">H02106</a>]",Leptin receptor deficiency is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease.,,"LEPR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3953"">3953</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05062"">K05062</a>]",,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 OMIM: <a href=""https://www.omim.org/entry/614963"">614963</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17229951"">17229951</a>
 著者        Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S
 タイトル      Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
 雑誌        N Engl J Med 356:237-47 (2007)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa063988"">10.1056/NEJMoa063988</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9537324"">9537324</a>
 著者        Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B
 タイトル      A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
 雑誌        Nature 392:398-401 (1998)
 DOI:<a href=""https://doi.org/10.1038/32911"">10.1038/32911</a>"
H02061,エストロゲン不応症候群,,,"Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.",内分泌代謝疾患,nt06323  KISS1-GnRH-LH/FSH-E2 signaling,ESR1 [HSA:2099] [KO:K08550],,,,,This syndrome is distinct from resistance to hormone therapy.,"ICD-11: 5A90
 ICD-10: E30.9
 OMIM: 615363","PMID:23841731
 著者        Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC
 タイトル      Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant.
 雑誌        N Engl J Med 369:164-71 (2013)
 DOI:10.1056/NEJMoa1303611
 PMID:8090165
 著者        Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS
 タイトル      Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
 雑誌        N Engl J Med 331:1056-61 (1994)
 DOI:10.1056/NEJM199410203311604
 PMID:27754803
 著者        Bernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guechot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombes M, Christin-Maitre S
 タイトル      Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
 雑誌        J Clin Endocrinol Metab 102:93-99 (2017)
 DOI:10.1210/jc.2016-2749","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02061"">H02061</a>",エストロゲン不応症候群,"Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.","<a href=""https://www.kegg.jp/network/nt06323"">nt06323</a>  KISS1-GnRH-LH/FSH-E2 signaling","ESR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2099"">2099</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08550"">K08550</a>]",,,,,This syndrome is distinct from resistance to hormone therapy.,"ICD-11: 5A90
 ICD-10: E30.9
 OMIM: <a href=""https://www.omim.org/entry/615363"">615363</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23841731"">23841731</a>
 著者        Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC
 タイトル      Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant.
 雑誌        N Engl J Med 369:164-71 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1303611"">10.1056/NEJMoa1303611</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8090165"">8090165</a>
 著者        Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS
 タイトル      Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
 雑誌        N Engl J Med 331:1056-61 (1994)
 DOI:<a href=""https://doi.org/10.1056/NEJM199410203311604"">10.1056/NEJM199410203311604</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27754803"">27754803</a>
 著者        Bernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guechot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombes M, Christin-Maitre S
 タイトル      Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
 雑誌        J Clin Endocrinol Metab 102:93-99 (2017)
 DOI:<a href=""https://doi.org/10.1210/jc.2016-2749"">10.1210/jc.2016-2749</a>"
H02062,短指を伴う家族性指関節症,,,Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.,筋骨格疾患,,TRPV4 [HSA:59341] [KO:K04973],,,,,,"ICD-11: LD24.8Y
 ICD-10: M06.8
 OMIM: 606835","PMID:21964574
 著者        Lamande SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF
 タイトル      Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
 雑誌        Nat Genet 43:1142-6 (2011)
 DOI:10.1038/ng.945","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02062"">H02062</a>",短指を伴う家族性指関節症,Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.,,"TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]",,,,,,"ICD-11: LD24.8Y
 ICD-10: M06.8
 OMIM: <a href=""https://www.omim.org/entry/606835"">606835</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21964574"">21964574</a>
 著者        Lamande SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF
 タイトル      Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
 雑誌        Nat Genet 43:1142-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.945"">10.1038/ng.945</a>"
H02063,捻曲性骨異形成症,,,"Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. DTD is especially prevalent in Finland.",先天奇形,,SLC26A2 [HSA:1836] [KO:K14701],,,,,"ICD-10: Q77.5
 OMIM: 222600",ICD-11: LD24.03,"PMID:10482955
 著者        Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES
 タイトル      Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
 雑誌        Eur J Hum Genet 7:664-70 (1999)
 DOI:10.1038/sj.ejhg.5200361
 PMID:24598000
 著者        Makitie O, Geiberger S, Horemuzova E, Hagenas L, Mostrom E, Nordenskjold M, Grigelioniene G, Nordgren A
 タイトル      SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
 雑誌        Clin Genet 87:273-8 (2015)
 DOI:10.1111/cge.12371","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02063"">H02063</a>",捻曲性骨異形成症,"Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. DTD is especially prevalent in Finland.",,"SLC26A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1836"">1836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14701"">K14701</a>]",,,,,"ICD-10: Q77.5
 OMIM: <a href=""https://www.omim.org/entry/222600"">222600</a>",ICD-11: LD24.03,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10482955"">10482955</a>
 著者        Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES
 タイトル      Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
 雑誌        Eur J Hum Genet 7:664-70 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200361"">10.1038/sj.ejhg.5200361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24598000"">24598000</a>
 著者        Makitie O, Geiberger S, Horemuzova E, Hagenas L, Mostrom E, Nordenskjold M, Grigelioniene G, Nordgren A
 タイトル      SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
 雑誌        Clin Genet 87:273-8 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12371"">10.1111/cge.12371</a>"
H02064,骨発生不全症 I 型 および III 型,,,"Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant disorders caused by mutations in the gene encoding filamin B.",先天奇形,,FLNB [HSA:2317] [KO:K04437],,,,,,"ICD-11: LD24.E
 ICD-10: Q78.8
 MeSH: C535396 C579928
 OMIM: 108720 108721","PMID:9133349
 著者        Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
 タイトル      Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
 雑誌        Pediatr Radiol 27:388-96 (1997)
 DOI:10.1007/s002470050154
 PMID:14991055
 著者        Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH
 タイトル      Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
 雑誌        Nat Genet 36:405-10 (2004)
 DOI:10.1038/ng1319","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02064"">H02064</a>",骨発生不全症 I 型 および III 型,"Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant disorders caused by mutations in the gene encoding filamin B.",,"FLNB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2317"">2317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD24.E
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535396"">C535396</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C579928"">C579928</a>
 OMIM: <a href=""https://www.omim.org/entry/108720"">108720</a> <a href=""https://www.omim.org/entry/108721"">108721</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9133349"">9133349</a>
 著者        Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K
 タイトル      Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
 雑誌        Pediatr Radiol 27:388-96 (1997)
 DOI:<a href=""https://doi.org/10.1007/s002470050154"">10.1007/s002470050154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14991055"">14991055</a>
 著者        Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH
 タイトル      Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
 雑誌        Nat Genet 36:405-10 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1319"">10.1038/ng1319</a>"
H02065,"軟骨無発生症 IB 型;
 Fraccaro 型軟骨無発生症",,,"Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2).",先天奇形,,SLC26A2 [HSA:1836] [KO:K14701],,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: C536019
 OMIM: 600972","PMID:11570921
 著者        Corsi A, Riminucci M, Fisher LW, Bianco P
 タイトル      Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
 雑誌        Arch Pathol Lab Med 125:1375-8 (2001)
 DOI:10.1043/0003-9985(2001)125&lt;1375:ATI&gt;2.0.CO;2
 PMID:8528239
 著者        Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R
 タイトル      Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
 雑誌        Nat Genet 12:100-2 (1996)
 DOI:10.1038/ng0196-100","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02065"">H02065</a>","軟骨無発生症 IB 型;
 Fraccaro 型軟骨無発生症","Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2).",,"SLC26A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1836"">1836</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14701"">K14701</a>]",,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536019"">C536019</a>
 OMIM: <a href=""https://www.omim.org/entry/600972"">600972</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11570921"">11570921</a>
 著者        Corsi A, Riminucci M, Fisher LW, Bianco P
 タイトル      Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
 雑誌        Arch Pathol Lab Med 125:1375-8 (2001)
 DOI:<a href=""https://doi.org/10.1043/0003-9985(2001)125&lt;1375:"">10.1043/0003-9985(2001)125&lt;1375:</a><a href=""https://doi.org/ATI&gt;2.0.CO;2"">ATI&gt;2.0.CO;2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8528239"">8528239</a>
 著者        Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R
 タイトル      Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
 雑誌        Nat Genet 12:100-2 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng0196-100"">10.1038/ng0196-100</a>"
H02066,"軟骨無発生症 II 型;
 Langer-Saldino 型軟骨無発生症
 上位グループ    II 型コラーゲン異常症 [DS:H00520]",,,Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations.,先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: C536017
 OMIM: 200610","PMID:15054848
 著者        Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G
 タイトル      Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
 雑誌        Am J Med Genet A 126A:308-12 (2004)
 DOI:10.1002/ajmg.a.20597
 PMID:17994563
 著者        Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F
 タイトル      A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father.
 雑誌        Am J Med Genet A 143A:2815-20 (2007)
 DOI:10.1002/ajmg.a.32047","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02066"">H02066</a>","軟骨無発生症 II 型;
 Langer-Saldino 型軟骨無発生症
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]",Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations.,,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.50
 ICD-10: Q77.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536017"">C536017</a>
 OMIM: <a href=""https://www.omim.org/entry/200610"">200610</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15054848"">15054848</a>
 著者        Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G
 タイトル      Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
 雑誌        Am J Med Genet A 126A:308-12 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20597"">10.1002/ajmg.a.20597</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994563"">17994563</a>
 著者        Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F
 タイトル      A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father.
 雑誌        Am J Med Genet A 143A:2815-20 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32047"">10.1002/ajmg.a.32047</a>"
H02067,ブーメラン異形成,,,"Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.",先天奇形,,FLNB [HSA:2317] [KO:K04437],,,,,,"ICD-11: LD24.E
 ICD-10: Q87.1
 MeSH: C536573
 OMIM: 112310","PMID:15994868
 著者        Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP
 タイトル      Mutations in FLNB cause boomerang dysplasia.
 雑誌        J Med Genet 42:e43 (2005)
 DOI:10.1136/jmg.2004.029967
 PMID:12955767
 著者        Wessels MW, Den Hollander NS, De Krijger RR, Bonife L, Superti-Furga A, Nikkels PG, Willems PJ
 タイトル      Prenatal diagnosis of boomerang dysplasia.
 雑誌        Am J Med Genet A 122A:148-54 (2003)
 DOI:10.1002/ajmg.a.20239","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02067"">H02067</a>",ブーメラン異形成,"Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.",,"FLNB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2317"">2317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD24.E
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536573"">C536573</a>
 OMIM: <a href=""https://www.omim.org/entry/112310"">112310</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15994868"">15994868</a>
 著者        Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP
 タイトル      Mutations in FLNB cause boomerang dysplasia.
 雑誌        J Med Genet 42:e43 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.029967"">10.1136/jmg.2004.029967</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12955767"">12955767</a>
 著者        Wessels MW, Den Hollander NS, De Krijger RR, Bonife L, Superti-Furga A, Nikkels PG, Willems PJ
 タイトル      Prenatal diagnosis of boomerang dysplasia.
 雑誌        Am J Med Genet A 122A:148-54 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20239"">10.1002/ajmg.a.20239</a>"
H02068,"軟骨低形成症
 上位グループ    FGFR3関連骨異形成症 [DS:H00505]",,,Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth factor receptor (FGFR3) cause hypochondroplasia.,先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,ソマトロピン [DR:D02691],,"ICD-11: LD24.01
 ICD-10: Q77.4
 MeSH: C562937
 OMIM: 146000","PMID:7670477
 著者        Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA
 タイトル      A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
 雑誌        Nat Genet 10:357-9 (1995)
 DOI:10.1038/ng0795-357
 PMID:18000903
 著者        Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR
 タイトル      Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
 雑誌        Am J Med Genet A 143A:3144-9 (2007)
 DOI:10.1002/ajmg.a.31966","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02068"">H02068</a>","軟骨低形成症
 上位グループ    FGFR3関連骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>]",Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth factor receptor (FGFR3) cause hypochondroplasia.,,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,"ソマトロピン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02691"">D02691</a>]",,"ICD-11: LD24.01
 ICD-10: Q77.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562937"">C562937</a>
 OMIM: <a href=""https://www.omim.org/entry/146000"">146000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7670477"">7670477</a>
 著者        Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA
 タイトル      A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
 雑誌        Nat Genet 10:357-9 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0795-357"">10.1038/ng0795-357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18000903"">18000903</a>
 著者        Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR
 タイトル      Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
 雑誌        Am J Med Genet A 143A:3144-9 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31966"">10.1002/ajmg.a.31966</a>"
H02069,"SADDAN;
 発達遅滞と黒色表皮腫を伴う重症軟骨無形成症
 上位グループ    FGFR3関連骨異形成症 [DS:H00505]",,,SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3).,先天奇形,,FGFR3 [HSA:2261] [KO:K05094],,,,,,"ICD-11: LD24.00
 ICD-10: Q77.4
 MeSH: D000130
 OMIM: 616482","PMID:10377013
 著者        Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA
 タイトル      Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
 雑誌        Am J Med Genet 85:53-65 (1999)
 DOI:10.1002/(SICI)1096-8628(19990702)85:1<53::AID-AJMG10>3.0.CO;2-F
 PMID:18076102
 著者        Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T
 タイトル      Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
 雑誌        Am J Med Genet A 146A:212-8 (2008)
 DOI:10.1002/ajmg.a.32085","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02069"">H02069</a>","SADDAN;
 発達遅滞と黒色表皮腫を伴う重症軟骨無形成症
 上位グループ    FGFR3関連骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00505"">H00505</a>]",SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3).,,"FGFR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2261"">2261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05094"">K05094</a>]",,,,,,"ICD-11: LD24.00
 ICD-10: Q77.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000130"">D000130</a>
 OMIM: <a href=""https://www.omim.org/entry/616482"">616482</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10377013"">10377013</a>
 著者        Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA
 タイトル      Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
 雑誌        Am J Med Genet 85:53-65 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19990702)85:"">10.1002/(SICI)1096-8628(19990702)85:</a><a href=""https://doi.org/1<53:"">1<53:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG10>3.0.CO;2-F"">AID-AJMG10>3.0.CO;2-F</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18076102"">18076102</a>
 著者        Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T
 タイトル      Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
 雑誌        Am J Med Genet A 146A:212-8 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32085"">10.1002/ajmg.a.32085</a>"
H02070,"Kniest 異形成症
 上位グループ    II 型コラーゲン異常症 [DS:H00520]",,,"Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.",先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C537207
 OMIM: 156550","PMID:7757081
 著者        Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH
 タイトル      A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691--&gt;Arg) in the type II collagen trimer.
 雑誌        Hum Mol Genet 4:285-8 (1995)
 DOI:10.1093/hmg/4.2.285
 PMID:7874117
 著者        Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
 タイトル      A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
 雑誌        Hum Mol Genet 3:1999-2003 (1994)
 DOI:10.1093/hmg/3.11.1999","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02070"">H02070</a>","Kniest 異形成症
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]","Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.",,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537207"">C537207</a>
 OMIM: <a href=""https://www.omim.org/entry/156550"">156550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7757081"">7757081</a>
 著者        Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH
 タイトル      A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691--&gt;Arg) in the type II collagen trimer.
 雑誌        Hum Mol Genet 4:285-8 (1995)
 DOI:<a href=""https://doi.org/10.1093/hmg/4.2.285"">10.1093/hmg/4.2.285</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7874117"">7874117</a>
 著者        Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
 タイトル      A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
 雑誌        Hum Mol Genet 3:1999-2003 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.11.1999"">10.1093/hmg/3.11.1999</a>"
H02071,"Czech 異形成症
 上位グループ    II 型コラーゲン異常症 [DS:H00520]",,,"Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene.",先天奇形,,COL2A1 [HSA:1280] [KO:K19719],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C535766
 OMIM: 609162","PMID:17726487
 著者        Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
 タイトル      Czech dysplasia metatarsal type: another type II collagen disorder.
 雑誌        Eur J Hum Genet 15:1269-75 (2007)
 DOI:10.1038/sj.ejhg.5201913
 PMID:18553548
 著者        Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM
 タイトル      Czech dysplasia: report of a large family and further delineation of the phenotype.
 雑誌        Am J Med Genet A 146A:1859-64 (2008)
 DOI:10.1002/ajmg.a.32389","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02071"">H02071</a>","Czech 異形成症
 上位グループ    II 型コラーゲン異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00520"">H00520</a>]","Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene.",,"COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535766"">C535766</a>
 OMIM: <a href=""https://www.omim.org/entry/609162"">609162</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17726487"">17726487</a>
 著者        Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
 タイトル      Czech dysplasia metatarsal type: another type II collagen disorder.
 雑誌        Eur J Hum Genet 15:1269-75 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201913"">10.1038/sj.ejhg.5201913</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18553548"">18553548</a>
 著者        Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM
 タイトル      Czech dysplasia: report of a large family and further delineation of the phenotype.
 雑誌        Am J Med Genet A 146A:1859-64 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32389"">10.1002/ajmg.a.32389</a>"
H02072,"スティックラー症候群
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.",先天奇形,,"(STL1) COL2A1 [HSA:1280] [KO:K19719]
 (STL2) COL11A1 [HSA:1301] [KO:K19721]
 (STL3) COL11A2 [HSA:1302] [KO:K19721]
 (STL4) COL9A1 [HSA:1297] [KO:K08131]
 (STL5) COL9A2 [HSA:1298] [KO:K08131]",,,,,"STL3, also known as Stickler syndrome nonocular type, is related to otospondylomegaepiphyseal dysplasia.","ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C537492 C537493 C537494 C565177
 OMIM: 108300 604841 184840 614134 614284","PMID:26458481
 著者        Rishi P, Maheshwari A, Rishi E
 タイトル      Stickler syndrome.
 雑誌        Indian J Ophthalmol 63:614-5 (2015)
 DOI:10.4103/0301-4738.167114
 PMID:16189708 (COL2A1)
 著者        Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S
 タイトル      A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
 雑誌        Hum Genet 118:175-8 (2005)
 DOI:10.1007/s00439-005-0058-0
 PMID:8872475 (COL11A1)
 著者        Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
 タイトル      A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
 雑誌        Hum Mol Genet 5:1339-43 (1996)
 DOI:10.1093/hmg/5.9.1339
 PMID:7833911 (COL11A2)
 著者        Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC
 タイトル      A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
 雑誌        Hum Mol Genet 3:1561-4 (1994)
 DOI:10.1093/hmg/3.9.1561
 PMID:21421862 (COL9A1)
 著者        Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
 タイトル      Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
 雑誌        Invest Ophthalmol Vis Sci 52:4774-9 (2011)
 DOI:10.1167/iovs.10-7128
 PMID:21671392 (COL9A2)
 著者        Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L
 タイトル      A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
 雑誌        Am J Med Genet A 155A:1668-72 (2011)
 DOI:10.1002/ajmg.a.34071","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02072"">H02072</a>","スティックラー症候群
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.",,"(STL1) COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]
 (STL2) COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (STL3) COL11A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (STL4) COL9A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1297"">1297</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]
 (STL5) COL9A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1298"">1298</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]",,,,,"STL3, also known as Stickler syndrome nonocular type, is related to otospondylomegaepiphyseal dysplasia.","ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537492"">C537492</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537493"">C537493</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537494"">C537494</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565177"">C565177</a>
 OMIM: <a href=""https://www.omim.org/entry/108300"">108300</a> <a href=""https://www.omim.org/entry/604841"">604841</a> <a href=""https://www.omim.org/entry/184840"">184840</a> <a href=""https://www.omim.org/entry/614134"">614134</a> <a href=""https://www.omim.org/entry/614284"">614284</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26458481"">26458481</a>
 著者        Rishi P, Maheshwari A, Rishi E
 タイトル      Stickler syndrome.
 雑誌        Indian J Ophthalmol 63:614-5 (2015)
 DOI:<a href=""https://doi.org/10.4103/0301-4738.167114"">10.4103/0301-4738.167114</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16189708"">16189708</a> (COL2A1)
 著者        Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S
 タイトル      A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
 雑誌        Hum Genet 118:175-8 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-0058-0"">10.1007/s00439-005-0058-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8872475"">8872475</a> (COL11A1)
 著者        Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
 タイトル      A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
 雑誌        Hum Mol Genet 5:1339-43 (1996)
 DOI:<a href=""https://doi.org/10.1093/hmg/5.9.1339"">10.1093/hmg/5.9.1339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7833911"">7833911</a> (COL11A2)
 著者        Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC
 タイトル      A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
 雑誌        Hum Mol Genet 3:1561-4 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.9.1561"">10.1093/hmg/3.9.1561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21421862"">21421862</a> (COL9A1)
 著者        Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
 タイトル      Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
 雑誌        Invest Ophthalmol Vis Sci 52:4774-9 (2011)
 DOI:<a href=""https://doi.org/10.1167/iovs.10-7128"">10.1167/iovs.10-7128</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21671392"">21671392</a> (COL9A2)
 著者        Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L
 タイトル      A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
 雑誌        Am J Med Genet A 155A:1668-72 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34071"">10.1002/ajmg.a.34071</a>"
H02073,"Wagner 症候群
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN, encoding a chondroitin sulfate proteoglycan termed versican.",神経系疾患,,VCAN [HSA:1462] [KO:K06793],,,,,,"ICD-11: 9B80
 ICD-10: H35.5
 MeSH: C536075
 OMIM: 143200","PMID:21738396
 著者        Brezin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S
 タイトル      A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
 雑誌        Mol Vis 17:1669-78 (2011)
 PMID:16043844
 著者        Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
 タイトル      Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
 雑誌        Invest Ophthalmol Vis Sci 46:2726-35 (2005)
 DOI:10.1167/iovs.05-0057","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02073"">H02073</a>","Wagner 症候群
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN, encoding a chondroitin sulfate proteoglycan termed versican.",,"VCAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1462"">1462</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06793"">K06793</a>]",,,,,,"ICD-11: 9B80
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536075"">C536075</a>
 OMIM: <a href=""https://www.omim.org/entry/143200"">143200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21738396"">21738396</a>
 著者        Brezin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S
 タイトル      A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
 雑誌        Mol Vis 17:1669-78 (2011)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16043844"">16043844</a>
 著者        Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
 タイトル      Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
 雑誌        Invest Ophthalmol Vis Sci 46:2726-35 (2005)
 DOI:<a href=""https://doi.org/10.1167/iovs.05-0057"">10.1167/iovs.05-0057</a>"
H02074,"Knobloch 症候群
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.",先天奇形,,COL18A1 [HSA:80781] [KO:K06823],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q15.8
 MeSH: C537209
 OMIM: 267750","PMID:14695535
 著者        Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M
 タイトル      Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
 雑誌        Hum Mutat 23:77-84 (2004)
 DOI:10.1002/humu.10284
 PMID:12707952
 著者        Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S
 タイトル      Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
 雑誌        Am J Med Genet A 119A:15-9 (2003)
 DOI:10.1002/ajmg.a.20070","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02074"">H02074</a>","Knobloch 症候群
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.",,"COL18A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80781"">80781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06823"">K06823</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q15.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537209"">C537209</a>
 OMIM: <a href=""https://www.omim.org/entry/267750"">267750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14695535"">14695535</a>
 著者        Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M
 タイトル      Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
 雑誌        Hum Mutat 23:77-84 (2004)
 DOI:<a href=""https://doi.org/10.1002/humu.10284"">10.1002/humu.10284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12707952"">12707952</a>
 著者        Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S
 タイトル      Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
 雑誌        Am J Med Genet A 119A:15-9 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20070"">10.1002/ajmg.a.20070</a>"
H02075,"S 錐体増強症候群
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.",神経系疾患,,NR2E3 [HSA:10002] [KO:K08546],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C564835
 OMIM: 268100","PMID:18294254
 著者        Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M
 タイトル      Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
 雑誌        Clin Genet 73:360-6 (2008)
 DOI:10.1111/j.1399-0004.2008.00963.x
 PMID:15453866
 著者        Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K
 タイトル      Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
 雑誌        Acta Ophthalmol Scand 82:616-22 (2004)
 DOI:10.1111/j.1600-0420.2004.00328.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02075"">H02075</a>","S 錐体増強症候群
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.",,"NR2E3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10002"">10002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08546"">K08546</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564835"">C564835</a>
 OMIM: <a href=""https://www.omim.org/entry/268100"">268100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18294254"">18294254</a>
 著者        Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M
 タイトル      Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
 雑誌        Clin Genet 73:360-6 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2008.00963.x"">10.1111/j.1399-0004.2008.00963.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15453866"">15453866</a>
 著者        Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K
 タイトル      Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
 雑誌        Acta Ophthalmol Scand 82:616-22 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0420.2004.00328.x"">10.1111/j.1600-0420.2004.00328.x</a>"
H02076,"Bacteroides 感染症
 上位グループ    嫌気性菌感染症 [DS:H01410]",,,"The genus Bacteroides, anaerobic, bile-resistant, non-spore-forming, gram-negative rod, is capable of causing very serious infections (e.g., intra-abdominal sepsis and bacteremia). Particularly, intra-abdominal sepsis is the most common infection caused by Bacteroides. Bacteroides bacteremia generally is characterized by thrombophlebitis, metastatic infection, hyperbilirubinemia, and high mortality rate.",感染症,,,Bacteroides fragilis [GN:bfr bfs bfg bfb],,,,,"ICD-10: A49.9
 MeSH: D001442","PMID:17934076
 著者        Wexler HM
 タイトル      Bacteroides: the good, the bad, and the nitty-gritty.
 雑誌        Clin Microbiol Rev 20:593-621 (2007)
 DOI:10.1128/CMR.00008-07
 PMID:20025984
 著者        Brook I
 タイトル      The role of anaerobic bacteria in bacteremia.
 雑誌        Anaerobe 16:183-9 (2010)
 DOI:10.1016/j.anaerobe.2009.12.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02076"">H02076</a>","Bacteroides 感染症
 上位グループ    嫌気性菌感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01410"">H01410</a>]","The genus Bacteroides, anaerobic, bile-resistant, non-spore-forming, gram-negative rod, is capable of causing very serious infections (e.g., intra-abdominal sepsis and bacteremia). Particularly, intra-abdominal sepsis is the most common infection caused by Bacteroides. Bacteroides bacteremia generally is characterized by thrombophlebitis, metastatic infection, hyperbilirubinemia, and high mortality rate.",,,"Bacteroides fragilis [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bfr"">bfr</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bfs"">bfs</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bfg"">bfg</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:bfb"">bfb</a>]",,,,,"ICD-10: A49.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001442"">D001442</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17934076"">17934076</a>
 著者        Wexler HM
 タイトル      Bacteroides: the good, the bad, and the nitty-gritty.
 雑誌        Clin Microbiol Rev 20:593-621 (2007)
 DOI:<a href=""https://doi.org/10.1128/CMR.00008-07"">10.1128/CMR.00008-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20025984"">20025984</a>
 著者        Brook I
 タイトル      The role of anaerobic bacteria in bacteremia.
 雑誌        Anaerobe 16:183-9 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.anaerobe.2009.12.001"">10.1016/j.anaerobe.2009.12.001</a>"
H02077,"Snowflake 硝子体網膜変性
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment. Mutations in KCNJ13 cause SVD.",神経系疾患,,KCNJ13 [HSA:3769] [KO:K05006],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C536677
 OMIM: 193230","PMID:18179896
 著者        Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
 タイトル      Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
 雑誌        Am J Hum Genet 82:174-80 (2008)
 DOI:10.1016/j.ajhg.2007.08.002
 PMID:15557460
 著者        Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
 タイトル      Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
 雑誌        Invest Ophthalmol Vis Sci 45:4498-503 (2004)
 DOI:10.1167/iovs.04-0722","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02077"">H02077</a>","Snowflake 硝子体網膜変性
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment. Mutations in KCNJ13 cause SVD.",,"KCNJ13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3769"">3769</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05006"">K05006</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536677"">C536677</a>
 OMIM: <a href=""https://www.omim.org/entry/193230"">193230</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179896"">18179896</a>
 著者        Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
 タイトル      Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
 雑誌        Am J Hum Genet 82:174-80 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.08.002"">10.1016/j.ajhg.2007.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15557460"">15557460</a>
 著者        Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
 タイトル      Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
 雑誌        Invest Ophthalmol Vis Sci 45:4498-503 (2004)
 DOI:<a href=""https://doi.org/10.1167/iovs.04-0722"">10.1167/iovs.04-0722</a>"
H02078,"常染色体優性硝子体網脈絡膜症
 上位グループ    硝子体網膜変性 [DS:H00805]",,,"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel.",神経系疾患,,BEST1 [HSA:7439] [KO:K13878],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C536352
 OMIM: 193220","PMID:27653836
 著者        Carter DA, Smart MJ, Letton WV, Ramsden CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, Powner MB, Webster AR, da Cruz L, Moore AT, Coffey PJ, Carr AF
 タイトル      Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
 雑誌        Sci Rep 6:33792 (2016)
 DOI:10.1038/srep33792
 PMID:18611979
 著者        Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD
 タイトル      ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
 雑誌        J Med Genet 46:620-5 (2009)
 DOI:10.1136/jmg.2008.059881","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02078"">H02078</a>","常染色体優性硝子体網脈絡膜症
 上位グループ    硝子体網膜変性 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00805"">H00805</a>]","Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel.",,"BEST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7439"">7439</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13878"">K13878</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536352"">C536352</a>
 OMIM: <a href=""https://www.omim.org/entry/193220"">193220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27653836"">27653836</a>
 著者        Carter DA, Smart MJ, Letton WV, Ramsden CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, Powner MB, Webster AR, da Cruz L, Moore AT, Coffey PJ, Carr AF
 タイトル      Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
 雑誌        Sci Rep 6:33792 (2016)
 DOI:<a href=""https://doi.org/10.1038/srep33792"">10.1038/srep33792</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18611979"">18611979</a>
 著者        Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD
 タイトル      ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
 雑誌        J Med Genet 46:620-5 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2008.059881"">10.1136/jmg.2008.059881</a>"
H02079,"耳・脊椎・巨大骨端異形成症;
 OSMED;
 Weissenbacher-Zweymuller 症候群",,,"Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.",先天奇形,,COL11A2 [HSA:1302] [KO:K19721],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C536140
 OMIM: 184840 215150","PMID:16637051
 著者        Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH
 タイトル      Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
 雑誌        Am J Med Genet A 140:1189-95 (2006)
 DOI:10.1002/ajmg.a.31205","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02079"">H02079</a>","耳・脊椎・巨大骨端異形成症;
 OSMED;
 Weissenbacher-Zweymuller 症候群","Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.",,"COL11A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536140"">C536140</a>
 OMIM: <a href=""https://www.omim.org/entry/184840"">184840</a> <a href=""https://www.omim.org/entry/215150"">215150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16637051"">16637051</a>
 著者        Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH
 タイトル      Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
 雑誌        Am J Med Genet A 140:1189-95 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31205"">10.1002/ajmg.a.31205</a>"
H02080,線維性軟骨発生症,,,"Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently, It has been demonstrated that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.",先天奇形,,"(FBCG1) COL11A1 [HSA:1301] [KO:K19721]
 (FBCG2) COL11A2 [HSA:1302] [KO:K19721]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C562524
 OMIM: 228520 614524","PMID:21035103
 著者        Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH
 タイトル      Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
 雑誌        Am J Hum Genet 87:708-12 (2010)
 DOI:10.1016/j.ajhg.2010.10.009
 PMID:22246659
 著者        Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH
 タイトル      Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
 雑誌        Am J Med Genet A 158A:309-14 (2012)
 DOI:10.1002/ajmg.a.34406
 PMID:6507479
 著者        Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL
 タイトル      Fibrochondrogenesis: radiologic and histologic studies.
 雑誌        Am J Med Genet 19:277-90 (1984)
 DOI:10.1002/ajmg.1320190210","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02080"">H02080</a>",線維性軟骨発生症,"Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently, It has been demonstrated that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.",,"(FBCG1) COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 (FBCG2) COL11A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1302"">1302</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562524"">C562524</a>
 OMIM: <a href=""https://www.omim.org/entry/228520"">228520</a> <a href=""https://www.omim.org/entry/614524"">614524</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21035103"">21035103</a>
 著者        Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH
 タイトル      Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
 雑誌        Am J Hum Genet 87:708-12 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.10.009"">10.1016/j.ajhg.2010.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22246659"">22246659</a>
 著者        Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH
 タイトル      Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
 雑誌        Am J Med Genet A 158A:309-14 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34406"">10.1002/ajmg.a.34406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6507479"">6507479</a>
 著者        Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL
 タイトル      Fibrochondrogenesis: radiologic and histologic studies.
 雑誌        Am J Med Genet 19:277-90 (1984)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320190210"">10.1002/ajmg.1320190210</a>"
H02081,マーシャル症候群,,,"Marshall syndrome is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.",先天奇形,,COL11A1 [HSA:1301] [KO:K19721],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.0
 MeSH: C536025
 OMIM: 154780","PMID:10486316
 著者        Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L
 タイトル      Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
 雑誌        Am J Hum Genet 65:974-83 (1999)
 DOI:10.1086/302585
 PMID:9529347
 著者        Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML
 タイトル      Marshall syndrome associated with a splicing defect at the COL11A1 locus.
 雑誌        Am J Hum Genet 62:816-23 (1998)
 DOI:10.1086/301789
 PMID:25073711
 著者        Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA
 タイトル      Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
 雑誌        Am J Med Genet A 164A:2601-6 (2014)
 DOI:10.1002/ajmg.a.36681","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02081"">H02081</a>",マーシャル症候群,"Marshall syndrome is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.",,"COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536025"">C536025</a>
 OMIM: <a href=""https://www.omim.org/entry/154780"">154780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10486316"">10486316</a>
 著者        Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L
 タイトル      Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
 雑誌        Am J Hum Genet 65:974-83 (1999)
 DOI:<a href=""https://doi.org/10.1086/302585"">10.1086/302585</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9529347"">9529347</a>
 著者        Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML
 タイトル      Marshall syndrome associated with a splicing defect at the COL11A1 locus.
 雑誌        Am J Hum Genet 62:816-23 (1998)
 DOI:<a href=""https://doi.org/10.1086/301789"">10.1086/301789</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25073711"">25073711</a>
 著者        Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA
 タイトル      Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
 雑誌        Am J Med Genet A 164A:2601-6 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36681"">10.1002/ajmg.a.36681</a>"
H02082,Floating-Harbor 症候群,,,"Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease.",先天奇形,,SRCAP [HSA:10847] [KO:K11661],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537062
 OMIM: 136140","PMID:20014123
 著者        Hendrickx JJ, Keymolen K, Desprechins B, Casselman J, Gordts F
 タイトル      Floating-Harbor syndrome associated with middle ear abnormalities.
 雑誌        Am J Med Genet A 152A:161-4 (2010)
 DOI:10.1002/ajmg.a.33033
 PMID:22265015
 著者        Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM
 タイトル      Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
 雑誌        Am J Hum Genet 90:308-13 (2012)
 DOI:10.1016/j.ajhg.2011.12.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02082"">H02082</a>",Floating-Harbor 症候群,"Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease.",,"SRCAP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10847"">10847</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11661"">K11661</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537062"">C537062</a>
 OMIM: <a href=""https://www.omim.org/entry/136140"">136140</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20014123"">20014123</a>
 著者        Hendrickx JJ, Keymolen K, Desprechins B, Casselman J, Gordts F
 タイトル      Floating-Harbor syndrome associated with middle ear abnormalities.
 雑誌        Am J Med Genet A 152A:161-4 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33033"">10.1002/ajmg.a.33033</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22265015"">22265015</a>
 著者        Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM
 タイトル      Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
 雑誌        Am J Hum Genet 90:308-13 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.001"">10.1016/j.ajhg.2011.12.001</a>"
H02083,限局性顔皮膚異形成,,,"The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns.",先天奇形,,"(FFDD3) TWIST2 [HSA:117581] [KO:K09069]
 (FFDD4) CYP26C1 [HSA:340665] [KO:K12665]",,,,,The genetic defects causing FFDD1 and FFDD2 remain unknown.,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: C537068
 OMIM: 136500 227260 614974","PMID:28663233
 著者        Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ
 タイトル      The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
 雑誌        J Med Genet 54:585-590 (2017)
 DOI:10.1136/jmedgenet-2017-104561
 PMID:23161670
 著者        Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
 タイトル      Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
 雑誌        Hum Mol Genet 22:696-703 (2013)
 DOI:10.1093/hmg/dds477
 PMID:21931173
 著者        Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ
 タイトル      Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
 雑誌        J Med Genet 48:716-20 (2011)
 DOI:10.1136/jmedgenet-2011-100251","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02083"">H02083</a>",限局性顔皮膚異形成,"The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns.",,"(FFDD3) TWIST2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117581"">117581</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]
 (FFDD4) CYP26C1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:340665"">340665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12665"">K12665</a>]",,,,,The genetic defects causing FFDD1 and FFDD2 remain unknown.,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537068"">C537068</a>
 OMIM: <a href=""https://www.omim.org/entry/136500"">136500</a> <a href=""https://www.omim.org/entry/227260"">227260</a> <a href=""https://www.omim.org/entry/614974"">614974</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28663233"">28663233</a>
 著者        Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ
 タイトル      The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
 雑誌        J Med Genet 54:585-590 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104561"">10.1136/jmedgenet-2017-104561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23161670"">23161670</a>
 著者        Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
 タイトル      Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
 雑誌        Hum Mol Genet 22:696-703 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds477"">10.1093/hmg/dds477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21931173"">21931173</a>
 著者        Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ
 タイトル      Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
 雑誌        J Med Genet 48:716-20 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100251"">10.1136/jmedgenet-2011-100251</a>"
H02084,アメリカ先住民ミオパチー,,,"Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM.",神経系疾患; 筋骨格疾患,,STAC3 [HSA:246329] [KO:K23713],,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: C538343
 OMIM: 255995","PMID:23736855
 著者        Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY
 タイトル      Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
 雑誌        Nat Commun 4:1952 (2013)
 DOI:10.1038/ncomms2952
 PMID:18553514
 著者        Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM
 タイトル      Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
 雑誌        Am J Med Genet A 146A:1832-41 (2008)
 DOI:10.1002/ajmg.a.32370","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02084"">H02084</a>",アメリカ先住民ミオパチー,"Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM.",,"STAC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:246329"">246329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23713"">K23713</a>]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538343"">C538343</a>
 OMIM: <a href=""https://www.omim.org/entry/255995"">255995</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23736855"">23736855</a>
 著者        Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY
 タイトル      Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
 雑誌        Nat Commun 4:1952 (2013)
 DOI:<a href=""https://doi.org/10.1038/ncomms2952"">10.1038/ncomms2952</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18553514"">18553514</a>
 著者        Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM
 タイトル      Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
 雑誌        Am J Med Genet A 146A:1832-41 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32370"">10.1002/ajmg.a.32370</a>"
H02085,"アシル CoA デヒドロゲナーゼ 9 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:H00525]
 二次性高アンモニア血症 [DS:H01400]
 ミトコンドリア病 [DS:H01427]",,,"Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase activity. Patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders.",先天性代謝異常症,,ACAD9 [HSA:28976] [KO:K15980],,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 OMIM: 611126","PMID:27233227
 著者        Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC
 タイトル      Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
 雑誌        Mol Genet Metab 118:185-9 (2016)
 DOI:10.1016/j.ymgme.2016.05.005
 PMID:17564966
 著者        He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
 タイトル      A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
 雑誌        Am J Hum Genet 81:87-103 (2007)
 DOI:10.1086/519219
 PMID:18708005
 著者        Kompare M, Rizzo WB
 タイトル      Mitochondrial fatty-acid oxidation disorders.
 雑誌        Semin Pediatr Neurol 15:140-9 (2008)
 DOI:10.1016/j.spen.2008.05.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02085"">H02085</a>","アシル CoA デヒドロゲナーゼ 9 欠損症
 上位グループ    ミトコンドリアの脂肪酸酸化異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00525"">H00525</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase activity. Patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders.",,"ACAD9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28976"">28976</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15980"">K15980</a>]",,,,,,"ICD-11: 5C52.01
 ICD-10: E71.3
 OMIM: <a href=""https://www.omim.org/entry/611126"">611126</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27233227"">27233227</a>
 著者        Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC
 タイトル      Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
 雑誌        Mol Genet Metab 118:185-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2016.05.005"">10.1016/j.ymgme.2016.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17564966"">17564966</a>
 著者        He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
 タイトル      A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
 雑誌        Am J Hum Genet 81:87-103 (2007)
 DOI:<a href=""https://doi.org/10.1086/519219"">10.1086/519219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18708005"">18708005</a>
 著者        Kompare M, Rizzo WB
 タイトル      Mitochondrial fatty-acid oxidation disorders.
 雑誌        Semin Pediatr Neurol 15:140-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2008.05.008"">10.1016/j.spen.2008.05.008</a>"
H02086,"ミトコンドリア 複合体 III 欠損症
 上位グループ    ミトコンドリア病 [DS:H01427]",,,"Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney dysfunction and frequently death. Until now, mutations in nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial assembly factors.",先天性代謝異常症,,"(MC3DN1) BCS1L [HSA:617] [KO:K08900]
 (MC3DN2) TTC19 [HSA:54902] [KO:K18169]
 (MC3DN3) UQCRB [HSA:7381] [KO:K00417]
 (MC3DN4) UQCRQ [HSA:27089] [KO:K00418]
 (MC3DN5) UQCRC2 [HSA:7385] [KO:K00415]
 (MC3DN6) CYC1 [HSA:1537] [KO:K00413]
 (MC3DN7) UQCC2 [HSA:84300] [KO:K17682]
 (MC3DN8) LYRM7 [HSA:90624] [KO:K18170]
 (MC3DN9) UQCC3 [HSA:790955] [KO:K23165]
 (MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: C565128
 OMIM: 124000 615157 615158 615159 615160 615453 615824 615838 616111 618775","PMID:18601960
 著者        Benit P, Lebon S, Rustin P
 タイトル      Respiratory-chain diseases related to complex III deficiency.
 雑誌        Biochim Biophys Acta 1793:181-5 (2009)
 DOI:10.1016/j.bbamcr.2008.06.004
 PMID:11528392 (BCS1L)
 著者        de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A
 タイトル      A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
 雑誌        Nat Genet 29:57-60 (2001)
 DOI:10.1038/ng706
 PMID:21278747 (TTC19)
 著者        Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C, Zeviani M
 タイトル      Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
 雑誌        Nat Genet 43:259-63 (2011)
 DOI:10.1038/ng.761
 PMID:12709789 (UQCRB)
 著者        Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A
 タイトル      A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
 雑誌        Hum Genet 113:118-22 (2003)
 DOI:10.1007/s00439-003-0946-0
 PMID:18439546 (UQCRQ)
 著者        Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS
 タイトル      Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.
 雑誌        Am J Hum Genet 82:1211-6 (2008)
 DOI:10.1016/j.ajhg.2008.03.020
 PMID:23281071 (UQCRC2)
 著者        Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N
 タイトル      Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
 雑誌        Hum Mutat 34:446-52 (2013)
 DOI:10.1002/humu.22257
 PMID:23910460 (CYC1)
 著者        Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P
 タイトル      Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
 雑誌        Am J Hum Genet 93:384-9 (2013)
 DOI:10.1016/j.ajhg.2013.06.015
 PMID:24385928 (UQCC2)
 著者        Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljic B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR
 タイトル      Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
 雑誌        PLoS Genet 9:e1004034 (2013)
 DOI:10.1371/journal.pgen.1004034
 PMID:26912632 (LYRM7)
 著者        Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E
 タイトル      LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
 雑誌        Brain 139:782-94 (2016)
 DOI:10.1093/brain/awv392
 PMID:25008109 (UQCC3)
 著者        Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA
 タイトル      A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
 雑誌        Hum Mol Genet 23:6356-65 (2014)
 DOI:10.1093/hmg/ddu357
 PMID:31883641 (UQCRFS1)
 著者        Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yepez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rotig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M
 タイトル      Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
 雑誌        Am J Hum Genet 106:102-111 (2020)
 DOI:10.1016/j.ajhg.2019.12.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02086"">H02086</a>","ミトコンドリア 複合体 III 欠損症
 上位グループ    ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney dysfunction and frequently death. Until now, mutations in nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial assembly factors.",,"(MC3DN1) BCS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:617"">617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08900"">K08900</a>]
 (MC3DN2) TTC19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54902"">54902</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18169"">K18169</a>]
 (MC3DN3) UQCRB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7381"">7381</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00417"">K00417</a>]
 (MC3DN4) UQCRQ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27089"">27089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00418"">K00418</a>]
 (MC3DN5) UQCRC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7385"">7385</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00415"">K00415</a>]
 (MC3DN6) CYC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1537"">1537</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00413"">K00413</a>]
 (MC3DN7) UQCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84300"">84300</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17682"">K17682</a>]
 (MC3DN8) LYRM7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90624"">90624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18170"">K18170</a>]
 (MC3DN9) UQCC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:790955"">790955</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23165"">K23165</a>]
 (MC3DN10) UQCRFS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7386"">7386</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00411"">K00411</a>]",,,,,,"ICD-11: 5C53.2Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565128"">C565128</a>
 OMIM: <a href=""https://www.omim.org/entry/124000"">124000</a> <a href=""https://www.omim.org/entry/615157"">615157</a> <a href=""https://www.omim.org/entry/615158"">615158</a> <a href=""https://www.omim.org/entry/615159"">615159</a> <a href=""https://www.omim.org/entry/615160"">615160</a> <a href=""https://www.omim.org/entry/615453"">615453</a> <a href=""https://www.omim.org/entry/615824"">615824</a> <a href=""https://www.omim.org/entry/615838"">615838</a> <a href=""https://www.omim.org/entry/616111"">616111</a> <a href=""https://www.omim.org/entry/618775"">618775</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18601960"">18601960</a>
 著者        Benit P, Lebon S, Rustin P
 タイトル      Respiratory-chain diseases related to complex III deficiency.
 雑誌        Biochim Biophys Acta 1793:181-5 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2008.06.004"">10.1016/j.bbamcr.2008.06.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11528392"">11528392</a> (BCS1L)
 著者        de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A
 タイトル      A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
 雑誌        Nat Genet 29:57-60 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng706"">10.1038/ng706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21278747"">21278747</a> (TTC19)
 著者        Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C, Zeviani M
 タイトル      Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
 雑誌        Nat Genet 43:259-63 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.761"">10.1038/ng.761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12709789"">12709789</a> (UQCRB)
 著者        Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A
 タイトル      A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
 雑誌        Hum Genet 113:118-22 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00439-003-0946-0"">10.1007/s00439-003-0946-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18439546"">18439546</a> (UQCRQ)
 著者        Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS
 タイトル      Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.
 雑誌        Am J Hum Genet 82:1211-6 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.020"">10.1016/j.ajhg.2008.03.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23281071"">23281071</a> (UQCRC2)
 著者        Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N
 タイトル      Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
 雑誌        Hum Mutat 34:446-52 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22257"">10.1002/humu.22257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23910460"">23910460</a> (CYC1)
 著者        Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P
 タイトル      Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
 雑誌        Am J Hum Genet 93:384-9 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.015"">10.1016/j.ajhg.2013.06.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24385928"">24385928</a> (UQCC2)
 著者        Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljic B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR
 タイトル      Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
 雑誌        PLoS Genet 9:e1004034 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004034"">10.1371/journal.pgen.1004034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26912632"">26912632</a> (LYRM7)
 著者        Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E
 タイトル      LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
 雑誌        Brain 139:782-94 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/awv392"">10.1093/brain/awv392</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25008109"">25008109</a> (UQCC3)
 著者        Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA
 タイトル      A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
 雑誌        Hum Mol Genet 23:6356-65 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu357"">10.1093/hmg/ddu357</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31883641"">31883641</a> (UQCRFS1)
 著者        Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yepez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rotig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M
 タイトル      Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
 雑誌        Am J Hum Genet 106:102-111 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.005"">10.1016/j.ajhg.2019.12.005</a>"
H02087,先天性 NAD 欠乏症,,,"Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes a deficiency of NAD and congenital malformations in humans and mice.",先天性代謝異常症,,"(VCRL1) HAAO [HSA:23498] [KO:K00452]
 (VCRL2) KYNU [HSA:8942] [KO:K01556]
 (VCRL3) NADSYN1 [HSA:55191] [KO:K01950]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: E70.8
 OMIM: 617660 617661 618845","PMID:28792876 (HAAO KYNU)
 著者        Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
 タイトル      NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
 雑誌        N Engl J Med 377:544-552 (2017)
 DOI:10.1056/NEJMoa1616361
 PMID:31883644 (NADSYN1)
 著者        Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL
 タイトル      Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
 雑誌        Am J Hum Genet 106:129-136 (2020)
 DOI:10.1016/j.ajhg.2019.12.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02087"">H02087</a>",先天性 NAD 欠乏症,"Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes a deficiency of NAD and congenital malformations in humans and mice.",,"(VCRL1) HAAO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23498"">23498</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00452"">K00452</a>]
 (VCRL2) KYNU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8942"">8942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01556"">K01556</a>]
 (VCRL3) NADSYN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55191"">55191</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01950"">K01950</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: E70.8
 OMIM: <a href=""https://www.omim.org/entry/617660"">617660</a> <a href=""https://www.omim.org/entry/617661"">617661</a> <a href=""https://www.omim.org/entry/618845"">618845</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28792876"">28792876</a> (HAAO <a href=""https://pubmed.ncbi.nlm.nih.gov/KYNU)"">KYNU)</a>
 著者        Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
 タイトル      NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
 雑誌        N Engl J Med 377:544-552 (2017)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1616361"">10.1056/NEJMoa1616361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31883644"">31883644</a> (NADSYN1)
 著者        Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL
 タイトル      Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
 雑誌        Am J Hum Genet 106:129-136 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.006"">10.1016/j.ajhg.2019.12.006</a>"
H02088,Primary intraosseous vascular malformation,,,"Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.",循環器疾患,,ELMO2 [HSA:63916] [KO:K18985],,,,,,"ICD-11: LD23
 ICD-10: Q28.9
 OMIM: 606893","PMID:27476657
 著者        Cetinkaya A, Xiong JR, Vargel I, Kosemehmetoglu K, Canter HI, Gerdan OF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan S, Sagiroglu MS, Takahashi T, Reversade B, Akarsu NA
 タイトル      Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
 雑誌        Am J Hum Genet 99:299-317 (2016)
 DOI:10.1016/j.ajhg.2016.06.008
 PMID:11932989
 著者        Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y
 タイトル      Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.
 雑誌        Am J Med Genet 109:22-35 (2002)
 DOI:10.1002/ajmg.10282","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02088"">H02088</a>",Primary intraosseous vascular malformation,"Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.",,"ELMO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63916"">63916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18985"">K18985</a>]",,,,,,"ICD-11: LD23
 ICD-10: Q28.9
 OMIM: <a href=""https://www.omim.org/entry/606893"">606893</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476657"">27476657</a>
 著者        Cetinkaya A, Xiong JR, Vargel I, Kosemehmetoglu K, Canter HI, Gerdan OF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan S, Sagiroglu MS, Takahashi T, Reversade B, Akarsu NA
 タイトル      Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
 雑誌        Am J Hum Genet 99:299-317 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.008"">10.1016/j.ajhg.2016.06.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11932989"">11932989</a>
 著者        Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y
 タイトル      Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.
 雑誌        Am J Med Genet 109:22-35 (2002)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10282"">10.1002/ajmg.10282</a>"
H02089,Winchester 症候群,,,"Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy (MONA) [DS:H00472] were presumed to be allelic disorders arising from mutations in the MMP2 gene. But it has been demonstrated that mutations in MMP14 result in this disease.",筋骨格疾患,,MMP14 [HSA:4323] [KO:K07763],,,,,See also H00472.,"ICD-11: FB86.2
 ICD-10: L91
 OMIM: 277950","PMID:4238825
 著者        Winchester P, Grossman H, Lim WN, Danes BS
 タイトル      A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis.
 雑誌        Am J Roentgenol Radium Ther Nucl Med 106:121-8 (1969)
 DOI:10.2214/ajr.106.1.121
 PMID:22922033
 著者        Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA
 タイトル      Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.
 雑誌        Am J Hum Genet 91:572-6 (2012)
 DOI:10.1016/j.ajhg.2012.07.022","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02089"">H02089</a>",Winchester 症候群,"Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy (MONA) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00472"">H00472</a>] were presumed to be allelic disorders arising from mutations in the MMP2 gene. But it has been demonstrated that mutations in MMP14 result in this disease.",,"MMP14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4323"">4323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07763"">K07763</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00472."">H00472.</a>","ICD-11: FB86.2
 ICD-10: L91
 OMIM: <a href=""https://www.omim.org/entry/277950"">277950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4238825"">4238825</a>
 著者        Winchester P, Grossman H, Lim WN, Danes BS
 タイトル      A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis.
 雑誌        Am J Roentgenol Radium Ther Nucl Med 106:121-8 (1969)
 DOI:<a href=""https://doi.org/10.2214/ajr.106.1.121"">10.2214/ajr.106.1.121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22922033"">22922033</a>
 著者        Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA
 タイトル      Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.
 雑誌        Am J Hum Genet 91:572-6 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.07.022"">10.1016/j.ajhg.2012.07.022</a>"
H02090,トレハラーゼ欠乏症,,,"Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal trehalase (encoded by TREH) is a beta-galactosidase which catalyses the hydrolysis of trehalose to two glucose molecules for absorption.",先天性代謝異常症,,TREH [HSA:11181] [KO:K01194],,,,,,"ICD-11: 5C61.3
 ICD-10: E74.3
 OMIM: 612119","PMID:3227291
 著者        Gudmand-Hoyer E, Fenger HJ, Skovbjerg H, Kern-Hansen P, Madsen PR
 タイトル      Trehalase deficiency in Greenland.
 雑誌        Scand J Gastroenterol 23:775-8 (1988)
 DOI:10.3109/00365528809090759
 PMID:28406212
 著者        Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S
 タイトル      Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
 雑誌        Nature 544:235-239 (2017)
 DOI:10.1038/nature22034
 PMID:10884712
 著者        Murray IA, Coupland K, Smith JA, Ansell ID, Long RG
 タイトル      Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.
 雑誌        Br J Nutr 83:241-5 (2000)
 DOI:10.1017/S0007114500000313","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02090"">H02090</a>",トレハラーゼ欠乏症,"Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal trehalase (encoded by TREH) is a beta-galactosidase which catalyses the hydrolysis of trehalose to two glucose molecules for absorption.",,"TREH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11181"">11181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01194"">K01194</a>]",,,,,,"ICD-11: 5C61.3
 ICD-10: E74.3
 OMIM: <a href=""https://www.omim.org/entry/612119"">612119</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3227291"">3227291</a>
 著者        Gudmand-Hoyer E, Fenger HJ, Skovbjerg H, Kern-Hansen P, Madsen PR
 タイトル      Trehalase deficiency in Greenland.
 雑誌        Scand J Gastroenterol 23:775-8 (1988)
 DOI:<a href=""https://doi.org/10.3109/00365528809090759"">10.3109/00365528809090759</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28406212"">28406212</a>
 著者        Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S
 タイトル      Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
 雑誌        Nature 544:235-239 (2017)
 DOI:<a href=""https://doi.org/10.1038/nature22034"">10.1038/nature22034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10884712"">10884712</a>
 著者        Murray IA, Coupland K, Smith JA, Ansell ID, Long RG
 タイトル      Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.
 雑誌        Br J Nutr 83:241-5 (2000)
 DOI:<a href=""https://doi.org/10.1017/S0007114500000313"">10.1017/S0007114500000313</a>"
H02091,"ジャーベル・ランゲ・ニールセン症候群
 上位グループ    QT 延長症候群 [DS:H00720]",,,"Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. Recently, mutations in KCNE1 also have been found to cause JLNS.",循環器疾患,,"(JLNS1) KCNQ1 [HSA:3784] [KO:K04926]
 (JLNS2) KCNE1 [HSA:3753] [KO:K04894]",,,,,,"ICD-11: BC65.0
 ICD-10: I45.8
 MeSH: D029593
 OMIM: 220400 612347","PMID:10077519
 著者        Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA
 タイトル      Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
 雑誌        Circulation 99:1344-7 (1999)
 DOI:10.1161/01.CIR.99.10.1344
 PMID:9445165
 著者        Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH
 タイトル      Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
 雑誌        Circulation 97:142-6 (1998)
 DOI:10.1161/01.CIR.97.2.142
 PMID:9341873
 著者        Schulze-Bahr E, Haverkamp W, Wedekind H, Rubie C, Hordt M, Borggrefe M, Assmann G, Breithardt G, Funke H
 タイトル      Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous.
 雑誌        Hum Genet 100:573-6 (1997)
 DOI:10.1007/s004390050554","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02091"">H02091</a>","ジャーベル・ランゲ・ニールセン症候群
 上位グループ    QT 延長症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00720"">H00720</a>]","Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. Recently, mutations in KCNE1 also have been found to cause JLNS.",,"(JLNS1) KCNQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3784"">3784</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04926"">K04926</a>]
 (JLNS2) KCNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3753"">3753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04894"">K04894</a>]",,,,,,"ICD-11: BC65.0
 ICD-10: I45.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D029593"">D029593</a>
 OMIM: <a href=""https://www.omim.org/entry/220400"">220400</a> <a href=""https://www.omim.org/entry/612347"">612347</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10077519"">10077519</a>
 著者        Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA
 タイトル      Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.
 雑誌        Circulation 99:1344-7 (1999)
 DOI:<a href=""https://doi.org/10.1161/01.CIR.99.10.1344"">10.1161/01.CIR.99.10.1344</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9445165"">9445165</a>
 著者        Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH
 タイトル      Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
 雑誌        Circulation 97:142-6 (1998)
 DOI:<a href=""https://doi.org/10.1161/01.CIR.97.2.142"">10.1161/01.CIR.97.2.142</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9341873"">9341873</a>
 著者        Schulze-Bahr E, Haverkamp W, Wedekind H, Rubie C, Hordt M, Borggrefe M, Assmann G, Breithardt G, Funke H
 タイトル      Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous.
 雑誌        Hum Genet 100:573-6 (1997)
 DOI:<a href=""https://doi.org/10.1007/s004390050554"">10.1007/s004390050554</a>"
H02092,"フォン・ヴィレブランド病
 上位グループ    血友病 [DS:H00219]",,,"Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.",血液疾患,,VWF [HSA:7450] [KO:K03900],,,,"乾燥濃縮人血液凝固第VIII因子 [DR:D08798]
 ボニコグアルファ [DR:D08681]",,"ICD-11: 3B12
 ICD-10: D68.0
 MeSH: D014842
 OMIM: 193400 613554 277480","PMID:10444294
 著者        Von Willebrand EA
 タイトル      Hereditary pseudohaemophilia.
 雑誌        Haemophilia 5:223-31; discussion 222 (1999)
 DOI:10.1046/j.1365-2516.1999.00302.x
 PMID:25976955
 著者        Roberts JC, Flood VH
 タイトル      Laboratory diagnosis of von Willebrand disease.
 雑誌        Int J Lab Hematol 37 Suppl 1:11-7 (2015)
 DOI:10.1111/ijlh.12345
 PMID:24065240
 著者        Lillicrap D
 タイトル      von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.
 雑誌        Blood 122:3735-40 (2013)
 DOI:10.1182/blood-2013-06-498303
 PMID:25712990
 著者        Ng C, Motto DG, Di Paola J
 タイトル      Diagnostic approach to von Willebrand disease.
 雑誌        Blood 125:2029-37 (2015)
 DOI:10.1182/blood-2014-08-528398
 PMID:8367445
 著者        Zhang ZP, Blomback M, Nyman D, Anvret M
 タイトル      Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.
 雑誌        Proc Natl Acad Sci U S A 90:7937-40 (1993)
 DOI:10.1073/pnas.90.17.7937
 PMID:9569178
 著者        Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F
 タイトル      Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
 雑誌        Thromb Haemost 79:709-17 (1998)
 DOI:10.1055/s-0037-1615050","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02092"">H02092</a>","フォン・ヴィレブランド病
 上位グループ    血友病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00219"">H00219</a>]","Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.",,"VWF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7450"">7450</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03900"">K03900</a>]",,,,"乾燥濃縮人血液凝固第VIII因子 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08798"">D08798</a>]
 ボニコグアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08681"">D08681</a>]",,"ICD-11: 3B12
 ICD-10: D68.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014842"">D014842</a>
 OMIM: <a href=""https://www.omim.org/entry/193400"">193400</a> <a href=""https://www.omim.org/entry/613554"">613554</a> <a href=""https://www.omim.org/entry/277480"">277480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10444294"">10444294</a>
 著者        Von Willebrand EA
 タイトル      Hereditary pseudohaemophilia.
 雑誌        Haemophilia 5:223-31; discussion 222 (1999)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2516.1999.00302.x"">10.1046/j.1365-2516.1999.00302.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25976955"">25976955</a>
 著者        Roberts JC, Flood VH
 タイトル      Laboratory diagnosis of von Willebrand disease.
 雑誌        Int J Lab Hematol 37 Suppl 1:11-7 (2015)
 DOI:<a href=""https://doi.org/10.1111/ijlh.12345"">10.1111/ijlh.12345</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24065240"">24065240</a>
 著者        Lillicrap D
 タイトル      von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.
 雑誌        Blood 122:3735-40 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-06-498303"">10.1182/blood-2013-06-498303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712990"">25712990</a>
 著者        Ng C, Motto DG, Di Paola J
 タイトル      Diagnostic approach to von Willebrand disease.
 雑誌        Blood 125:2029-37 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-08-528398"">10.1182/blood-2014-08-528398</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8367445"">8367445</a>
 著者        Zhang ZP, Blomback M, Nyman D, Anvret M
 タイトル      Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.
 雑誌        Proc Natl Acad Sci U S A 90:7937-40 (1993)
 DOI:<a href=""https://doi.org/10.1073/pnas.90.17.7937"">10.1073/pnas.90.17.7937</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9569178"">9569178</a>
 著者        Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F
 タイトル      Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
 雑誌        Thromb Haemost 79:709-17 (1998)
 DOI:<a href=""https://doi.org/10.1055/s-0037-1615050"">10.1055/s-0037-1615050</a>"
H02093,"血小板型フォン・ヴィレブランド病
 上位グループ    血友病 [DS:H00219]",,,"Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF). PT-VWD is unique among platelet disorders because of platelet hyperresponsiveness rather than decreased function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is a very similar disorder, type 2B von Willebrand disease (VWD) [DS:H02092], to be taken into consideration in differential diagnosis.",血液疾患,,GP1BA [HSA:2811] [KO:K06261],,,,,See also H02092 and H01740.,"ICD-11: 3B62.Y
 ICD-10: D69.1
 MeSH: C536458
 OMIM: 177820","PMID:6798442
 著者        Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma JP, Vicic WJ, Rogers J
 タイトル      Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers.
 雑誌        N Engl J Med 306:326-33 (1982)
 DOI:10.1056/NEJM198202113060603
 PMID:23934752
 著者        Othman M, Kaur H, Emsley J
 タイトル      Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect.
 雑誌        Semin Thromb Hemost 39:663-73 (2013)
 DOI:10.1055/s-0033-1353442
 PMID:21497427
 著者        Othman M
 タイトル      Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
 雑誌        Blood Rev 25:147-53 (2011)
 DOI:10.1016/j.blre.2011.03.003
 PMID:22886561
 著者        Balduini CL, Savoia A
 タイトル      Genetics of familial forms of thrombocytopenia.
 雑誌        Hum Genet 131:1821-32 (2012)
 DOI:10.1007/s00439-012-1215-x
 PMID:22102188
 著者        Othman M
 タイトル      Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder.
 雑誌        Semin Thromb Hemost 37:464-9 (2011)
 DOI:10.1055/s-0031-1281030
 PMID:2052556
 著者        Miller JL, Cunningham D, Lyle VA, Finch CN
 タイトル      Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
 雑誌        Proc Natl Acad Sci U S A 88:4761-5 (1991)
 DOI:10.1073/pnas.88.11.4761
 PMID:8384898
 著者        Russell SD, Roth GJ
 タイトル      Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
 雑誌        Blood 81:1787-91 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02093"">H02093</a>","血小板型フォン・ヴィレブランド病
 上位グループ    血友病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00219"">H00219</a>]","Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF). PT-VWD is unique among platelet disorders because of platelet hyperresponsiveness rather than decreased function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is a very similar disorder, type 2B von Willebrand disease (VWD) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02092],"">H02092],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:taken"">taken</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:into"">into</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:consideration"">consideration</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:differential"">differential</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:diagnosis."">diagnosis.</a>",,"GP1BA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2811"">2811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06261"">K06261</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02092"">H02092</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01740."">H01740.</a>","ICD-11: 3B62.Y
 ICD-10: D69.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536458"">C536458</a>
 OMIM: <a href=""https://www.omim.org/entry/177820"">177820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6798442"">6798442</a>
 著者        Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma JP, Vicic WJ, Rogers J
 タイトル      Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers.
 雑誌        N Engl J Med 306:326-33 (1982)
 DOI:<a href=""https://doi.org/10.1056/NEJM198202113060603"">10.1056/NEJM198202113060603</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23934752"">23934752</a>
 著者        Othman M, Kaur H, Emsley J
 タイトル      Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect.
 雑誌        Semin Thromb Hemost 39:663-73 (2013)
 DOI:<a href=""https://doi.org/10.1055/s-0033-1353442"">10.1055/s-0033-1353442</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21497427"">21497427</a>
 著者        Othman M
 タイトル      Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
 雑誌        Blood Rev 25:147-53 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2011.03.003"">10.1016/j.blre.2011.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22886561"">22886561</a>
 著者        Balduini CL, Savoia A
 タイトル      Genetics of familial forms of thrombocytopenia.
 雑誌        Hum Genet 131:1821-32 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00439-012-1215-x"">10.1007/s00439-012-1215-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22102188"">22102188</a>
 著者        Othman M
 タイトル      Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder.
 雑誌        Semin Thromb Hemost 37:464-9 (2011)
 DOI:<a href=""https://doi.org/10.1055/s-0031-1281030"">10.1055/s-0031-1281030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2052556"">2052556</a>
 著者        Miller JL, Cunningham D, Lyle VA, Finch CN
 タイトル      Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
 雑誌        Proc Natl Acad Sci U S A 88:4761-5 (1991)
 DOI:<a href=""https://doi.org/10.1073/pnas.88.11.4761"">10.1073/pnas.88.11.4761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8384898"">8384898</a>
 著者        Russell SD, Roth GJ
 タイトル      Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
 雑誌        Blood 81:1787-91 (1993)"
H02094,"Carvajal 症候群;
 羊毛状毛髪と角皮症を伴う拡張型心筋症
 上位グループ    Naxos 病 [DS:H00669]",,,"Carvajal syndrome is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos disease. It is caused by homozygous mutation in the gene coding for desmoplakin. Recently, the autosomal dominant phenotype associated with leukonychia and oligodontia was reported.",先天奇形,,DSP [HSA:1832] [KO:K10381],,,,,,"ICD-11: BC43.6
 ICD-10: I42.8
 MeSH: C535581
 OMIM: 605676 615821","PMID:11063735
 著者        Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP
 タイトル      Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
 雑誌        Hum Mol Genet 9:2761-6 (2000)
 DOI:10.1093/hmg/9.18.2761
 PMID:22795705
 著者        Boule S, Fressart V, Laux D, Mallet A, Simon F, de Groote P, Bonnet D, Klug D, Charron P
 タイトル      Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.
 雑誌        Int J Cardiol 161:50-2 (2012)
 DOI:10.1016/j.ijcard.2012.06.068
 PMID:28649555
 著者        Finsterer J, Stollberger C, Wollmann E, Dertinger S, Laccone F
 タイトル      Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A >T (p.Ile560Phe).
 雑誌        Mol Genet Metab Rep 8:1-3 (2016)
 DOI:10.1016/j.ymgmr.2016.05.005
 PMID:15210133
 著者        Protonotarios N, Tsatsopoulou A
 タイトル      Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Cardiovasc Pathol 13:185-94 (2004)
 DOI:10.1016/j.carpath.2004.03.609","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02094"">H02094</a>","Carvajal 症候群;
 羊毛状毛髪と角皮症を伴う拡張型心筋症
 上位グループ    Naxos 病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00669"">H00669</a>]","Carvajal syndrome is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos disease. It is caused by homozygous mutation in the gene coding for desmoplakin. Recently, the autosomal dominant phenotype associated with leukonychia and oligodontia was reported.",,"DSP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1832"">1832</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10381"">K10381</a>]",,,,,,"ICD-11: BC43.6
 ICD-10: I42.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535581"">C535581</a>
 OMIM: <a href=""https://www.omim.org/entry/605676"">605676</a> <a href=""https://www.omim.org/entry/615821"">615821</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11063735"">11063735</a>
 著者        Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP
 タイトル      Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
 雑誌        Hum Mol Genet 9:2761-6 (2000)
 DOI:<a href=""https://doi.org/10.1093/hmg/9.18.2761"">10.1093/hmg/9.18.2761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22795705"">22795705</a>
 著者        Boule S, Fressart V, Laux D, Mallet A, Simon F, de Groote P, Bonnet D, Klug D, Charron P
 タイトル      Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.
 雑誌        Int J Cardiol 161:50-2 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ijcard.2012.06.068"">10.1016/j.ijcard.2012.06.068</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28649555"">28649555</a>
 著者        Finsterer J, Stollberger C, Wollmann E, Dertinger S, Laccone F
 タイトル      Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A >T (p.Ile560Phe).
 雑誌        Mol Genet Metab Rep 8:1-3 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ymgmr.2016.05.005"">10.1016/j.ymgmr.2016.05.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15210133"">15210133</a>
 著者        Protonotarios N, Tsatsopoulou A
 タイトル      Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
 雑誌        Cardiovasc Pathol 13:185-94 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.carpath.2004.03.609"">10.1016/j.carpath.2004.03.609</a>"
H02095,Perrault 症候群,,,"Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis.",先天奇形,,"(PRLTS1) HSD17B4 [HSA:3295] [KO:K12405]
 (PRLTS2) HARS2 [HSA:23438] [KO:K01892]
 (PRLTS3) CLPP [HSA:8192] [KO:K01358]
 (PRLTS4) LARS2 [HSA:23395] [KO:K01869]
 (PRLTS5) TWNK [HSA:56652] [KO:K17680]
 (PRLTS6) ERAL1 [HSA:26284] [KO:K03595]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: C537286
 OMIM: 233400 614926 614129 615300 616138 617565","PMID:15216544
 著者        Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM
 タイトル      Perrault syndrome: evidence for progressive nervous system involvement.
 雑誌        Am J Med Genet A 128A:246-9 (2004)
 DOI:10.1002/ajmg.a.20616
 PMID:21464306
 著者        Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC
 タイトル      Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
 雑誌        Proc Natl Acad Sci U S A 108:6543-8 (2011)
 DOI:10.1073/pnas.1103471108
 PMID:23541340
 著者        Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG
 タイトル      Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
 雑誌        Am J Hum Genet 92:605-13 (2013)
 DOI:10.1016/j.ajhg.2013.02.013
 PMID:23541342
 著者        Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E
 タイトル      Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
 雑誌        Am J Hum Genet 92:614-20 (2013)
 DOI:10.1016/j.ajhg.2013.03.007
 PMID:25355836
 著者        Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H
 タイトル      Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
 雑誌        Neurology 83:2054-61 (2014)
 DOI:10.1212/WNL.0000000000001036
 PMID:28449065
 著者        Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS
 タイトル      A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
 雑誌        Hum Mol Genet 26:2541-2550 (2017)
 DOI:10.1093/hmg/ddx152","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02095"">H02095</a>",Perrault 症候群,"Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in different genes, mostly related to mitochondrial proteostasis.",,"(PRLTS1) HSD17B4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3295"">3295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12405"">K12405</a>]
 (PRLTS2) HARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23438"">23438</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01892"">K01892</a>]
 (PRLTS3) CLPP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8192"">8192</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01358"">K01358</a>]
 (PRLTS4) LARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23395"">23395</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01869"">K01869</a>]
 (PRLTS5) TWNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56652"">56652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17680"">K17680</a>]
 (PRLTS6) ERAL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26284"">26284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03595"">K03595</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537286"">C537286</a>
 OMIM: <a href=""https://www.omim.org/entry/233400"">233400</a> <a href=""https://www.omim.org/entry/614926"">614926</a> <a href=""https://www.omim.org/entry/614129"">614129</a> <a href=""https://www.omim.org/entry/615300"">615300</a> <a href=""https://www.omim.org/entry/616138"">616138</a> <a href=""https://www.omim.org/entry/617565"">617565</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15216544"">15216544</a>
 著者        Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM
 タイトル      Perrault syndrome: evidence for progressive nervous system involvement.
 雑誌        Am J Med Genet A 128A:246-9 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20616"">10.1002/ajmg.a.20616</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21464306"">21464306</a>
 著者        Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC
 タイトル      Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
 雑誌        Proc Natl Acad Sci U S A 108:6543-8 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1103471108"">10.1073/pnas.1103471108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23541340"">23541340</a>
 著者        Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG
 タイトル      Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
 雑誌        Am J Hum Genet 92:605-13 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.02.013"">10.1016/j.ajhg.2013.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23541342"">23541342</a>
 著者        Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E
 タイトル      Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
 雑誌        Am J Hum Genet 92:614-20 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.007"">10.1016/j.ajhg.2013.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25355836"">25355836</a>
 著者        Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H
 タイトル      Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
 雑誌        Neurology 83:2054-61 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001036"">10.1212/WNL.0000000000001036</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28449065"">28449065</a>
 著者        Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS
 タイトル      A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
 雑誌        Hum Mol Genet 26:2541-2550 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx152"">10.1093/hmg/ddx152</a>"
H02096,"ペルオキシソームアシルCoAオキシダーゼ欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:H00407]",,,"Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.",先天性代謝異常症,nt06021  beta-Oxidation in peroxisome,ACOX1 [HSA:51] [KO:K00232],,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: C536662
 OMIM: 264470","PMID:18536048
 著者        Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E
 タイトル      Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
 雑誌        Am J Med Genet A 146A:1676-81 (2008)
 DOI:10.1002/ajmg.a.32298
 PMID:17458872
 著者        Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR
 タイトル      Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
 雑誌        Hum Mutat 28:904-12 (2007)
 DOI:10.1002/humu.20535","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02096"">H02096</a>","ペルオキシソームアシルCoAオキシダーゼ欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00407"">H00407</a>]","Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.","<a href=""https://www.kegg.jp/network/nt06021"">nt06021</a>  beta-Oxidation in peroxisome","ACOX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51"">51</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00232"">K00232</a>]",,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536662"">C536662</a>
 OMIM: <a href=""https://www.omim.org/entry/264470"">264470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18536048"">18536048</a>
 著者        Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E
 タイトル      Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
 雑誌        Am J Med Genet A 146A:1676-81 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32298"">10.1002/ajmg.a.32298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17458872"">17458872</a>
 著者        Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR
 タイトル      Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
 雑誌        Hum Mutat 28:904-12 (2007)
 DOI:<a href=""https://doi.org/10.1002/humu.20535"">10.1002/humu.20535</a>"
H02097,灰色血小板症候群,,,"Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.",血液疾患,,NBEAL2 [HSA:23218] [KO:K23286],,,,,,"ICD-11: 3B62.00
 ICD-10: D69.1
 MeSH: D055652
 OMIM: 139090","PMID:5129551
 著者        Raccuglia G
 タイトル      Gray platelet syndrome. A variety of qualitative platelet disorder.
 雑誌        Am J Med 51:818-28 (1971)
 DOI:10.1016/0002-9343(71)90311-1
 PMID:26971401
 著者        Nurden AT, Nurden P
 タイトル      Should any genetic defect affecting alpha-granules in platelets be classified as gray platelet syndrome?
 雑誌        Am J Hematol 91:714-8 (2016)
 DOI:10.1002/ajh.24359
 PMID:22102272
 著者        Di Paola J, Johnson J
 タイトル      Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
 雑誌        Semin Thromb Hemost 37:690-7 (2011)
 DOI:10.1055/s-0031-1291379
 PMID:21765412
 著者        Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA
 タイトル      NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.
 雑誌        Nat Genet 43:732-4 (2011)
 DOI:10.1038/ng.883
 PMID:21765411
 著者        Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH
 タイトル      Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
 雑誌        Nat Genet 43:735-7 (2011)
 DOI:10.1038/ng.885
 PMID:21765413
 著者        Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J
 タイトル      Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
 雑誌        Nat Genet 43:738-40 (2011)
 DOI:10.1038/ng.884","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02097"">H02097</a>",灰色血小板症候群,"Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.",,"NBEAL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23218"">23218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23286"">K23286</a>]",,,,,,"ICD-11: 3B62.00
 ICD-10: D69.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055652"">D055652</a>
 OMIM: <a href=""https://www.omim.org/entry/139090"">139090</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5129551"">5129551</a>
 著者        Raccuglia G
 タイトル      Gray platelet syndrome. A variety of qualitative platelet disorder.
 雑誌        Am J Med 51:818-28 (1971)
 DOI:<a href=""https://doi.org/10.1016/0002-9343(71)90311-1"">10.1016/0002-9343(71)90311-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26971401"">26971401</a>
 著者        Nurden AT, Nurden P
 タイトル      Should any genetic defect affecting alpha-granules in platelets be classified as gray platelet syndrome?
 雑誌        Am J Hematol 91:714-8 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajh.24359"">10.1002/ajh.24359</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22102272"">22102272</a>
 著者        Di Paola J, Johnson J
 タイトル      Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
 雑誌        Semin Thromb Hemost 37:690-7 (2011)
 DOI:<a href=""https://doi.org/10.1055/s-0031-1291379"">10.1055/s-0031-1291379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21765412"">21765412</a>
 著者        Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA
 タイトル      NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.
 雑誌        Nat Genet 43:732-4 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.883"">10.1038/ng.883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21765411"">21765411</a>
 著者        Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH
 タイトル      Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
 雑誌        Nat Genet 43:735-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.885"">10.1038/ng.885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21765413"">21765413</a>
 著者        Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J
 タイトル      Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
 雑誌        Nat Genet 43:738-40 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.884"">10.1038/ng.884</a>"
H02098,"D-二頭酵素欠損症;
 DBP 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:H00407]",,,"D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional units. And it catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids. The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids (VLCFA), 2-methyl branched-chain fatty acids, and the bile acid intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.",先天性代謝異常症,nt06021  beta-Oxidation in peroxisome,HSD17B4 [HSA:3295] [KO:K12405],,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: C536663
 OMIM: 261515","PMID:16385454
 著者        Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
 タイトル      Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
 雑誌        Am J Hum Genet 78:112-24 (2006)
 DOI:10.1086/498880
 PMID:16278854
 著者        Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT
 タイトル      Clinical and biochemical spectrum of D-bifunctional protein deficiency.
 雑誌        Ann Neurol 59:92-104 (2006)
 DOI:10.1002/ana.20702","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02098"">H02098</a>","D-二頭酵素欠損症;
 DBP 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00407"">H00407</a>]","D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional units. And it catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids. The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids (VLCFA), 2-methyl branched-chain fatty acids, and the bile acid intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.","<a href=""https://www.kegg.jp/network/nt06021"">nt06021</a>  beta-Oxidation in peroxisome","HSD17B4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3295"">3295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12405"">K12405</a>]",,,,,,"ICD-11: 5C57.1
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536663"">C536663</a>
 OMIM: <a href=""https://www.omim.org/entry/261515"">261515</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16385454"">16385454</a>
 著者        Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
 タイトル      Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
 雑誌        Am J Hum Genet 78:112-24 (2006)
 DOI:<a href=""https://doi.org/10.1086/498880"">10.1086/498880</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16278854"">16278854</a>
 著者        Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT
 タイトル      Clinical and biochemical spectrum of D-bifunctional protein deficiency.
 雑誌        Ann Neurol 59:92-104 (2006)
 DOI:<a href=""https://doi.org/10.1002/ana.20702"">10.1002/ana.20702</a>"
H02099,"2-メチルアシルCoAラセマーゼ欠損症;
 AMACR 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:H00407]",,,Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.,先天性代謝異常症,nt06021  beta-Oxidation in peroxisome,AMACR [HSA:23600] [KO:K01796],,,,,,"ICD-11: 5C52.11 5C57.1
 ICD-10: K76.8
 MeSH: C565768
 OMIM: 614307","PMID:20821052
 著者        Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S
 タイトル      An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
 雑誌        J Inherit Metab Dis 33 Suppl 3:S349-53 (2010)
 DOI:10.1007/s10545-010-9183-6
 PMID:10655068
 著者        Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ
 タイトル      Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
 雑誌        Nat Genet 24:188-91 (2000)
 DOI:10.1038/72861","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02099"">H02099</a>","2-メチルアシルCoAラセマーゼ欠損症;
 AMACR 欠損症
 上位グループ    ペルオキシソームβ酸化系酵素欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00407"">H00407</a>]",Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.,"<a href=""https://www.kegg.jp/network/nt06021"">nt06021</a>  beta-Oxidation in peroxisome","AMACR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23600"">23600</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01796"">K01796</a>]",,,,,,"ICD-11: 5C52.11 5C57.1
 ICD-10: K76.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565768"">C565768</a>
 OMIM: <a href=""https://www.omim.org/entry/614307"">614307</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20821052"">20821052</a>
 著者        Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S
 タイトル      An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
 雑誌        J Inherit Metab Dis 33 Suppl 3:S349-53 (2010)
 DOI:<a href=""https://doi.org/10.1007/s10545-010-9183-6"">10.1007/s10545-010-9183-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10655068"">10655068</a>
 著者        Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ
 タイトル      Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
 雑誌        Nat Genet 24:188-91 (2000)
 DOI:<a href=""https://doi.org/10.1038/72861"">10.1038/72861</a>"
H02100,"ペルオキシソーム脂肪酸アシルCoAレダクターゼ 1 欠損症
 上位グループ    肢根型点状軟骨異形成症 [DS:H00207]
 ペルオキシソーム形成異常症 [DS:H00205]",,,"Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia or skeletal abnormalities. Mutations in FAR1, producing fatty alcohols used in plasmalogen biosynthesis, were recently shown to cause this disease.",先天性代謝異常症,,FAR1 [HSA:84188] [KO:K13356],,,,,,"ICD-11: 5C57.0
 ICD-10: Q77.3
 OMIM: 616154","PMID:25439727
 著者        Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R
 タイトル      A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
 雑誌        Am J Hum Genet 95:602-10 (2014)
 DOI:10.1016/j.ajhg.2014.10.003
 PMID:26220973
 著者        Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E
 タイトル      A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
 雑誌        Hum Mol Genet 24:5845-54 (2015)
 DOI:10.1093/hmg/ddv305","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02100"">H02100</a>","ペルオキシソーム脂肪酸アシルCoAレダクターゼ 1 欠損症
 上位グループ    肢根型点状軟骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00207"">H00207</a>]
 ペルオキシソーム形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00205"">H00205</a>]","Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia or skeletal abnormalities. Mutations in FAR1, producing fatty alcohols used in plasmalogen biosynthesis, were recently shown to cause this disease.",,"FAR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84188"">84188</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13356"">K13356</a>]",,,,,,"ICD-11: 5C57.0
 ICD-10: Q77.3
 OMIM: <a href=""https://www.omim.org/entry/616154"">616154</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25439727"">25439727</a>
 著者        Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R
 タイトル      A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
 雑誌        Am J Hum Genet 95:602-10 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.003"">10.1016/j.ajhg.2014.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26220973"">26220973</a>
 著者        Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E
 タイトル      A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
 雑誌        Hum Mol Genet 24:5845-54 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv305"">10.1093/hmg/ddv305</a>"
H02101,常染色体優性遺伝性感覚性運動失調,,,Autosomal dominant sensory ataxia (ADSA) is a rare genetic condition that results in a progressive ataxia. ADSA is suggested to be caused by degeneration of the posterior columns of the spinal cord. The mutation in the RNF170 gene causes ADSA.,神経系疾患,,RNF170 [HSA:81790] [KO:K15707],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 MeSH: C563818
 OMIM: 608984","PMID:18347805
 著者        Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupre N
 タイトル      Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.
 雑誌        Acta Neuropathol 116:331-6 (2008)
 DOI:10.1007/s00401-008-0362-6
 PMID:21115467
 著者        Valdmanis PN, Dupre N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA
 タイトル      A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
 雑誌        Brain 134:602-7 (2011)
 DOI:10.1093/brain/awq329","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02101"">H02101</a>",常染色体優性遺伝性感覚性運動失調,Autosomal dominant sensory ataxia (ADSA) is a rare genetic condition that results in a progressive ataxia. ADSA is suggested to be caused by degeneration of the posterior columns of the spinal cord. The mutation in the RNF170 gene causes ADSA.,,"RNF170 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81790"">81790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15707"">K15707</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563818"">C563818</a>
 OMIM: <a href=""https://www.omim.org/entry/608984"">608984</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18347805"">18347805</a>
 著者        Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupre N
 タイトル      Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.
 雑誌        Acta Neuropathol 116:331-6 (2008)
 DOI:<a href=""https://doi.org/10.1007/s00401-008-0362-6"">10.1007/s00401-008-0362-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21115467"">21115467</a>
 著者        Valdmanis PN, Dupre N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA
 タイトル      A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
 雑誌        Brain 134:602-7 (2011)
 DOI:<a href=""https://doi.org/10.1093/brain/awq329"">10.1093/brain/awq329</a>"
H02102,Myhre 症候群,,,"Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.",先天奇形,,SMAD4 [HSA:4089] [KO:K04501],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537620
 OMIM: 139210","PMID:22243968
 著者        Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M
 タイトル      A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
 雑誌        Am J Hum Genet 90:161-9 (2012)
 DOI:10.1016/j.ajhg.2011.12.011
 PMID:22158539
 著者        Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destree A, di Rocco M, Heron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V
 タイトル      Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
 雑誌        Nat Genet 44:85-8 (2011)
 DOI:10.1038/ng.1016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02102"">H02102</a>",Myhre 症候群,"Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.",,"SMAD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4089"">4089</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04501"">K04501</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537620"">C537620</a>
 OMIM: <a href=""https://www.omim.org/entry/139210"">139210</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22243968"">22243968</a>
 著者        Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M
 タイトル      A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
 雑誌        Am J Hum Genet 90:161-9 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.011"">10.1016/j.ajhg.2011.12.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22158539"">22158539</a>
 著者        Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destree A, di Rocco M, Heron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V
 タイトル      Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
 雑誌        Nat Genet 44:85-8 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.1016"">10.1038/ng.1016</a>"
H02103,DeSanto-Shinawi 症候群,,,"DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping deletions encompassing 10p11.23 in the specific features of this disease. And it has been suggested that WAC loss-of-function mutations are responsible for most of those phenotypic features.",染色体異常,,WAC [HSA:51322] [KO:K23884],,,,,,"ICD-11: LD44.A1
 ICD-10: Q93.5
 OMIM: 616708","PMID:26264232
 著者        DeSanto C, D'Aco K, Araujo GC, Shannon N, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M
 タイトル      WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23  microdeletion syndrome.
 雑誌        J Med Genet 52:754-61 (2015)
 DOI:10.1136/jmedgenet-2015-103069
 PMID:22258158
 著者        Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J
 タイトル      Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
 雑誌        J Hum Genet 57:191-6 (2012)
 DOI:10.1038/jhg.2011.154","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02103"">H02103</a>",DeSanto-Shinawi 症候群,"DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping deletions encompassing 10p11.23 in the specific features of this disease. And it has been suggested that WAC loss-of-function mutations are responsible for most of those phenotypic features.",,"WAC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51322"">51322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23884"">K23884</a>]",,,,,,"ICD-11: LD44.A1
 ICD-10: Q93.5
 OMIM: <a href=""https://www.omim.org/entry/616708"">616708</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26264232"">26264232</a>
 著者        DeSanto C, D'Aco K, Araujo GC, Shannon N, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M
 タイトル      WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23  microdeletion syndrome.
 雑誌        J Med Genet 52:754-61 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103069"">10.1136/jmedgenet-2015-103069</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22258158"">22258158</a>
 著者        Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J
 タイトル      Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
 雑誌        J Hum Genet 57:191-6 (2012)
 DOI:<a href=""https://doi.org/10.1038/jhg.2011.154"">10.1038/jhg.2011.154</a>"
H02104,"巨大角膜;
 X 連鎖巨大角膜",,,"Megalocornea (MGC1) is a rare congenital disease of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) and reduced central corneal thickness in the absence of raised intraocular pressure (IOP). It is an important differential diagnosis for primary congenital glaucoma (PCG) [DS:H01203] that leads to a high risk of vision loss and needs a fast diagnostic clarification and prompt treatment. Furthermore, MGC1 is classified as non-syndromic and has to be distinguished from megalocornea in the context of syndromes, e.g. neonatal Marfan syndrome [DS:H00653] or megalocornea-mental-retardation (MMR) syndrome. MGC1 has been reported to be caused by mutations in the CHRDL1 gene on Xq23.",神経系疾患,,CHRDL1 [HSA:91851] [KO:K24520],,,,,,"ICD-11: LA11.1
 ICD-10: Q15.8
 MeSH: C562829
 OMIM: 309300","PMID:22284829
 著者        Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ
 タイトル      X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
 雑誌        Am J Hum Genet 90:247-59 (2012)
 DOI:10.1016/j.ajhg.2011.12.019
 PMID:25712132
 著者        Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P
 タイトル      Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
 雑誌        Hum Mol Genet 24:3119-32 (2015)
 DOI:10.1093/hmg/ddv063
 PMID:25093588
 著者        Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ
 タイトル      Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.
 雑誌        PLoS One 9:e104163 (2014)
 DOI:10.1371/journal.pone.0104163","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02104"">H02104</a>","巨大角膜;
 X 連鎖巨大角膜","Megalocornea (MGC1) is a rare congenital disease of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) and reduced central corneal thickness in the absence of raised intraocular pressure (IOP). It is an important differential diagnosis for primary congenital glaucoma (PCG) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01203"">H01203</a>] that leads to a high risk of vision loss and needs a fast diagnostic clarification and prompt treatment. Furthermore, MGC1 is classified as non-syndromic and has to be distinguished from megalocornea in the context of syndromes, e.g. neonatal Marfan syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00653"">H00653</a>] or megalocornea-mental-retardation (MMR) syndrome. MGC1 has been reported to be caused by mutations in the CHRDL1 gene on Xq23.",,"CHRDL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91851"">91851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24520"">K24520</a>]",,,,,,"ICD-11: LA11.1
 ICD-10: Q15.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562829"">C562829</a>
 OMIM: <a href=""https://www.omim.org/entry/309300"">309300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22284829"">22284829</a>
 著者        Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ
 タイトル      X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
 雑誌        Am J Hum Genet 90:247-59 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.019"">10.1016/j.ajhg.2011.12.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712132"">25712132</a>
 著者        Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P
 タイトル      Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
 雑誌        Hum Mol Genet 24:3119-32 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv063"">10.1093/hmg/ddv063</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25093588"">25093588</a>
 著者        Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ
 タイトル      Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.
 雑誌        PLoS One 9:e104163 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0104163"">10.1371/journal.pone.0104163</a>"
H02105,"プロホルモン転換酵素 1/3 欠損症
 上位グループ    遺伝性肥満 [DS:H02106]",,,"Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain endocrine abnormalities, and dysregulation of glucose homeostasis. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells.",内分泌代謝疾患,,PCSK1 [HSA:5122] [KO:K01359],,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: C563423
 OMIM: 600955","PMID:9207799
 著者        Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S
 タイトル      Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
 雑誌        Nat Genet 16:303-6 (1997)
 DOI:10.1038/ng0797-303
 PMID:17595246
 著者        Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW
 タイトル      Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
 雑誌        J Clin Endocrinol Metab 92:3369-73 (2007)
 DOI:10.1210/jc.2007-0687
 PMID:23562752
 著者        Martin MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydogan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S
 タイトル      Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
 雑誌        Gastroenterology 145:138-48 (2013)
 DOI:10.1053/j.gastro.2013.03.048","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02105"">H02105</a>","プロホルモン転換酵素 1/3 欠損症
 上位グループ    遺伝性肥満 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02106"">H02106</a>]","Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain endocrine abnormalities, and dysregulation of glucose homeostasis. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells.",,"PCSK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5122"">5122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01359"">K01359</a>]",,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563423"">C563423</a>
 OMIM: <a href=""https://www.omim.org/entry/600955"">600955</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9207799"">9207799</a>
 著者        Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S
 タイトル      Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
 雑誌        Nat Genet 16:303-6 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0797-303"">10.1038/ng0797-303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17595246"">17595246</a>
 著者        Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW
 タイトル      Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
 雑誌        J Clin Endocrinol Metab 92:3369-73 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-0687"">10.1210/jc.2007-0687</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23562752"">23562752</a>
 著者        Martin MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydogan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S
 タイトル      Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
 雑誌        Gastroenterology 145:138-48 (2013)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2013.03.048"">10.1053/j.gastro.2013.03.048</a>"
H02106,"遺伝性肥満
 下位グループ    レプチン欠損症 [DS:H02059]
 レプチン受容体欠損症 [DS:H02060]
 プロホルモン転換酵素 1/3 欠損症 [DS:H02105]",,,"Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important, genes also have a significant role in its pathogenesis. Several genes that are involved in monogenic, syndromic and polygenic obesity, have been identified.",内分泌代謝疾患,,"NR0B2 [HSA:8431] [KO:K08563]
 SDC3 [HSA:9672] [KO:K16337]
 POMC [HSA:5443] [KO:K05228]
 GHRL [HSA:51738] [KO:K05254]
 PPARG [HSA:5468] [KO:K08530]
 CARTPT [HSA:9607] [KO:K25453]
 PPARGC1B [HSA:133522] [KO:K17962]
 ENPP1 [HSA:5167] [KO:K01513]
 ADRB2 [HSA:154] [KO:K04142]
 ADRB3 [HSA:155] [KO:K04143]
 AGRP [HSA:181] [KO:K05231]
 MC4R [HSA:4160] [KO:K04202]
 UCP1 [HSA:7350] [KO:K08769]
 UCP3 [HSA:7352] [KO:K15103]
 (BMIQ4) UCP2 [HSA:7351] [KO:K15103]
 (BMIQ9) MC3R [HSA:4159] [KO:K04201]
 (BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
 (BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
 (BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
 (BMIQ14) FTO [HSA:79068] [KO:K19469]
 (BMIQ17) AQP7 [HSA:364] [KO:K08771]
 (BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
 (BMIQ19) ADCY3 [HSA:109] [KO:K08043]",,,,,BMIQ is an abbreviation for BMI (body mass index) quantitative trait locus.,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: D009765
 OMIM: 601665 606641 607447 602025 607514 300306 612362 612460 614411 615457 617885","PMID:18000969
 著者        Barness LA, Opitz JM, Gilbert-Barness E
 タイトル      Obesity: genetic, molecular, and environmental aspects.
 雑誌        Am J Med Genet A 143A:3016-34 (2007)
 DOI:10.1002/ajmg.a.32035
 PMID:11136233 (NROB2, POMC, MC4R, PCSK1)
 著者        Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J
 タイトル      Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
 雑誌        Proc Natl Acad Sci U S A 98:575-80 (2001)
 DOI:10.1073/pnas.021544398
 PMID:17018662 (SDC3)
 著者        Ha E, Kim MJ, Choi BK, Rho JJ, Oh DJ, Rho TH, Kim KH, Lee HJ, Shin DH, Yim SV, Baik HH, Chung JH, Kim JW
 タイトル      Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population.
 雑誌        J Clin Endocrinol Metab 91:5095-9 (2006)
 DOI:10.1210/jc.2005-2086
 PMID:11502844 (GHRL)
 著者        Ukkola O, Ravussin E, Jacobson P, Snyder EE, Chagnon M, Sjostrom L, Bouchard C
 タイトル      Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.
 雑誌        J Clin Endocrinol Metab 86:3996-9 (2001)
 DOI:10.1210/jcem.86.8.7914
 PMID:15703762 (ADRB2, ADRB3, PPARG, UCP1, UCP2, UCP3)
 著者        Bell CG, Walley AJ, Froguel P
 タイトル      The genetics of human obesity.
 雑誌        Nat Rev Genet 6:221-34 (2005)
 DOI:10.1038/nrg1556
 PMID:11522684 (CARTPT)
 著者        del Giudice EM, Santoro N, Cirillo G, D'Urso L, Di Toro R, Perrone L
 タイトル      Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.
 雑誌        Diabetes 50:2157-60 (2001)
 DOI:10.2337/diabetes.50.9.2157
 PMID:14530391 (PPARGC1B)
 著者        Kamei Y, Ohizumi H, Fujitani Y, Nemoto T, Tanaka T, Takahashi N, Kawada T, Miyoshi M, Ezaki O, Kakizuka A
 タイトル      PPARgamma coactivator 1beta/ERR ligand 1 is an ERR protein ligand, whose expression induces a high-energy expenditure and antagonizes obesity.
 雑誌        Proc Natl Acad Sci U S A 100:12378-83 (2003)
 DOI:10.1073/pnas.2135217100
 PMID:29736163 (POMC, ENPP1, MC3R, MC4R)
 著者        Wybranska I, Malczewska-Malec M, Dembinska-Kiec A
 タイトル      Genetic Aspects of Obesity.
 雑誌        EJIFCC 17:142-158 (2006)
 PMID:22343897 (FFAR4)
 著者        Ichimura A, Hirasawa A, Poulain-Godefroy O, Bonnefond A, Hara T, Yengo L, Kimura I, Leloire A, Liu N, Iida K, Choquet H, Besnard P, Lecoeur C, Vivequin S, Ayukawa K, Takeuchi M, Ozawa K, Tauber M, Maffeis C, Morandi A, Buzzetti R, Elliott P, Pouta A, Jarvelin MR, Korner A, Kiess W, Pigeyre M, Caiazzo R, Van Hul W, Van Gaal L, Horber F, Balkau B, Levy-Marchal C, Rouskas K, Kouvatsi A, Hebebrand J, Hinney A, Scherag A, Pattou F, Meyre D, Koshimizu TA, Wolowczuk I, Tsujimoto G, Froguel P
 タイトル      Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human.
 雑誌        Nature 483:350-4 (2012)
 DOI:10.1038/nature10798
 PMID:15331564 (SLC6A14)
 著者        Durand E, Boutin P, Meyre D, Charles MA, Clement K, Dina C, Froguel P
 タイトル      Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in  French Caucasians.
 雑誌        Diabetes 53:2483-6 (2004)
 DOI:10.2337/diabetes.53.9.2483
 PMID:23869016 (MRAP2)
 著者        Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstrale M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA
 タイトル      Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
 雑誌        Science 341:275-8 (2013)
 DOI:10.1126/science.1233000
 PMID:17566090 (AQP7)
 著者        Ceperuelo-Mallafre V, Miranda M, Chacon MR, Vilarrasa N, Megia A, Gutierrez C, Fernandez-Real JM, Gomez JM, Caubet E, Fruhbeck G, Vendrell J
 タイトル      Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes.
 雑誌        J Clin Endocrinol Metab 92:3640-5 (2007)
 DOI:10.1210/jc.2007-0531
 PMID:29311636 (ADCY3)
 著者        Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T, Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A, Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R, Bjerregaard P, Jorgensen ME, Albrechtsen A, Hansen T
 タイトル      Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.
 雑誌        Nat Genet 50:172-174 (2018)
 DOI:10.1038/s41588-017-0022-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02106"">H02106</a>","遺伝性肥満
 下位グループ    レプチン欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02059"">H02059</a>]
 レプチン受容体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02060"">H02060</a>]
 プロホルモン転換酵素 1/3 欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02105"">H02105</a>]","Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important, genes also have a significant role in its pathogenesis. Several genes that are involved in monogenic, syndromic and polygenic obesity, have been identified.",,"NR0B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8431"">8431</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08563"">K08563</a>]
 SDC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9672"">9672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16337"">K16337</a>]
 POMC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5443"">5443</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05228"">K05228</a>]
 GHRL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51738"">51738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05254"">K05254</a>]
 PPARG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5468"">5468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08530"">K08530</a>]
 CARTPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9607"">9607</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25453"">K25453</a>]
 PPARGC1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:133522"">133522</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17962"">K17962</a>]
 ENPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]
 ADRB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:154"">154</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04142"">K04142</a>]
 ADRB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:155"">155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04143"">K04143</a>]
 AGRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:181"">181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05231"">K05231</a>]
 MC4R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4160"">4160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04202"">K04202</a>]
 UCP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7350"">7350</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08769"">K08769</a>]
 UCP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7352"">7352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15103"">K15103</a>]
 (BMIQ4) UCP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7351"">7351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15103"">K15103</a>]
 (BMIQ9) MC3R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4159"">4159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04201"">K04201</a>]
 (BMIQ10) FFAR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338557"">338557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08425"">K08425</a>]
 (BMIQ11) SLC6A14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11254"">11254</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05047"">K05047</a>]
 (BMIQ12) PCSK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5122"">5122</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01359"">K01359</a>]
 (BMIQ14) FTO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79068"">79068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19469"">K19469</a>]
 (BMIQ17) AQP7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:364"">364</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08771"">K08771</a>]
 (BMIQ18) MRAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112609"">112609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25968"">K25968</a>]
 (BMIQ19) ADCY3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:109"">109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08043"">K08043</a>]",,,,,BMIQ is an abbreviation for BMI (body mass index) quantitative trait locus.,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009765"">D009765</a>
 OMIM: <a href=""https://www.omim.org/entry/601665"">601665</a> <a href=""https://www.omim.org/entry/606641"">606641</a> <a href=""https://www.omim.org/entry/607447"">607447</a> <a href=""https://www.omim.org/entry/602025"">602025</a> <a href=""https://www.omim.org/entry/607514"">607514</a> <a href=""https://www.omim.org/entry/300306"">300306</a> <a href=""https://www.omim.org/entry/612362"">612362</a> <a href=""https://www.omim.org/entry/612460"">612460</a> <a href=""https://www.omim.org/entry/614411"">614411</a> <a href=""https://www.omim.org/entry/615457"">615457</a> <a href=""https://www.omim.org/entry/617885"">617885</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18000969"">18000969</a>
 著者        Barness LA, Opitz JM, Gilbert-Barness E
 タイトル      Obesity: genetic, molecular, and environmental aspects.
 雑誌        Am J Med Genet A 143A:3016-34 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32035"">10.1002/ajmg.a.32035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11136233"">11136233</a> (NROB2, <a href=""https://pubmed.ncbi.nlm.nih.gov/POMC,"">POMC,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MC4R,"">MC4R,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PCSK1)"">PCSK1)</a>
 著者        Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J
 タイトル      Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
 雑誌        Proc Natl Acad Sci U S A 98:575-80 (2001)
 DOI:<a href=""https://doi.org/10.1073/pnas.021544398"">10.1073/pnas.021544398</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17018662"">17018662</a> (SDC3)
 著者        Ha E, Kim MJ, Choi BK, Rho JJ, Oh DJ, Rho TH, Kim KH, Lee HJ, Shin DH, Yim SV, Baik HH, Chung JH, Kim JW
 タイトル      Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population.
 雑誌        J Clin Endocrinol Metab 91:5095-9 (2006)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-2086"">10.1210/jc.2005-2086</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11502844"">11502844</a> (GHRL)
 著者        Ukkola O, Ravussin E, Jacobson P, Snyder EE, Chagnon M, Sjostrom L, Bouchard C
 タイトル      Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.
 雑誌        J Clin Endocrinol Metab 86:3996-9 (2001)
 DOI:<a href=""https://doi.org/10.1210/jcem.86.8.7914"">10.1210/jcem.86.8.7914</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15703762"">15703762</a> (ADRB2, <a href=""https://pubmed.ncbi.nlm.nih.gov/ADRB3,"">ADRB3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/PPARG,"">PPARG,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/UCP1,"">UCP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/UCP2,"">UCP2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/UCP3)"">UCP3)</a>
 著者        Bell CG, Walley AJ, Froguel P
 タイトル      The genetics of human obesity.
 雑誌        Nat Rev Genet 6:221-34 (2005)
 DOI:<a href=""https://doi.org/10.1038/nrg1556"">10.1038/nrg1556</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11522684"">11522684</a> (CARTPT)
 著者        del Giudice EM, Santoro N, Cirillo G, D'Urso L, Di Toro R, Perrone L
 タイトル      Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.
 雑誌        Diabetes 50:2157-60 (2001)
 DOI:<a href=""https://doi.org/10.2337/diabetes.50.9.2157"">10.2337/diabetes.50.9.2157</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14530391"">14530391</a> (PPARGC1B)
 著者        Kamei Y, Ohizumi H, Fujitani Y, Nemoto T, Tanaka T, Takahashi N, Kawada T, Miyoshi M, Ezaki O, Kakizuka A
 タイトル      PPARgamma coactivator 1beta/ERR ligand 1 is an ERR protein ligand, whose expression induces a high-energy expenditure and antagonizes obesity.
 雑誌        Proc Natl Acad Sci U S A 100:12378-83 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.2135217100"">10.1073/pnas.2135217100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29736163"">29736163</a> (POMC, <a href=""https://pubmed.ncbi.nlm.nih.gov/ENPP1,"">ENPP1,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MC3R,"">MC3R,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MC4R)"">MC4R)</a>
 著者        Wybranska I, Malczewska-Malec M, Dembinska-Kiec A
 タイトル      Genetic Aspects of Obesity.
 雑誌        EJIFCC 17:142-158 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22343897"">22343897</a> (FFAR4)
 著者        Ichimura A, Hirasawa A, Poulain-Godefroy O, Bonnefond A, Hara T, Yengo L, Kimura I, Leloire A, Liu N, Iida K, Choquet H, Besnard P, Lecoeur C, Vivequin S, Ayukawa K, Takeuchi M, Ozawa K, Tauber M, Maffeis C, Morandi A, Buzzetti R, Elliott P, Pouta A, Jarvelin MR, Korner A, Kiess W, Pigeyre M, Caiazzo R, Van Hul W, Van Gaal L, Horber F, Balkau B, Levy-Marchal C, Rouskas K, Kouvatsi A, Hebebrand J, Hinney A, Scherag A, Pattou F, Meyre D, Koshimizu TA, Wolowczuk I, Tsujimoto G, Froguel P
 タイトル      Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human.
 雑誌        Nature 483:350-4 (2012)
 DOI:<a href=""https://doi.org/10.1038/nature10798"">10.1038/nature10798</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15331564"">15331564</a> (SLC6A14)
 著者        Durand E, Boutin P, Meyre D, Charles MA, Clement K, Dina C, Froguel P
 タイトル      Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in  French Caucasians.
 雑誌        Diabetes 53:2483-6 (2004)
 DOI:<a href=""https://doi.org/10.2337/diabetes.53.9.2483"">10.2337/diabetes.53.9.2483</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23869016"">23869016</a> (MRAP2)
 著者        Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstrale M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA
 タイトル      Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
 雑誌        Science 341:275-8 (2013)
 DOI:<a href=""https://doi.org/10.1126/science.1233000"">10.1126/science.1233000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17566090"">17566090</a> (AQP7)
 著者        Ceperuelo-Mallafre V, Miranda M, Chacon MR, Vilarrasa N, Megia A, Gutierrez C, Fernandez-Real JM, Gomez JM, Caubet E, Fruhbeck G, Vendrell J
 タイトル      Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes.
 雑誌        J Clin Endocrinol Metab 92:3640-5 (2007)
 DOI:<a href=""https://doi.org/10.1210/jc.2007-0531"">10.1210/jc.2007-0531</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29311636"">29311636</a> (ADCY3)
 著者        Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T, Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A, Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R, Bjerregaard P, Jorgensen ME, Albrechtsen A, Hansen T
 タイトル      Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.
 雑誌        Nat Genet 50:172-174 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41588-017-0022-7"">10.1038/s41588-017-0022-7</a>"
H02107,"クリスタリン網膜症;
 Bietti 結晶性角膜網膜ジストロフィー
 上位グループ    家族性斑点網膜症 [DS:H00825]",,,"Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.",神経系疾患,,CYP4V2 [HSA:285440] [KO:K07427],,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: C535440
 OMIM: 210370","PMID:27228076
 著者        Ng DS, Lai TY, Ng TK, Pang CP
 タイトル      Genetics of Bietti Crystalline Dystrophy.
 雑誌        Asia Pac J Ophthalmol (Phila) 5:245-52 (2016)
 DOI:10.1097/APO.0000000000000209
 PMID:25389847
 著者        Ji SX, Yin XL, He XG, Yuan RD, Ye J, Liu SZ, Gan XM, Dong Y
 タイトル      Bietti crystalline dystrophy with bilateral macular holes.
 雑誌        Retin Cases Brief Rep 3:361-3 (2009)
 DOI:10.1097/ICB.0b013e3181780832
 PMID:15042513
 著者        Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF
 タイトル      Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
 雑誌        Am J Hum Genet 74:817-26 (2004)
 DOI:10.1086/383228
 PMID:15937078
 著者        Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
 タイトル      Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
 雑誌        J Med Genet 42:e38 (2005)
 DOI:10.1136/jmg.2004.029066","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02107"">H02107</a>","クリスタリン網膜症;
 Bietti 結晶性角膜網膜ジストロフィー
 上位グループ    家族性斑点網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00825"">H00825</a>]","Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.",,"CYP4V2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285440"">285440</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07427"">K07427</a>]",,,,,,"ICD-11: 9B61
 ICD-10: H31.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535440"">C535440</a>
 OMIM: <a href=""https://www.omim.org/entry/210370"">210370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27228076"">27228076</a>
 著者        Ng DS, Lai TY, Ng TK, Pang CP
 タイトル      Genetics of Bietti Crystalline Dystrophy.
 雑誌        Asia Pac J Ophthalmol (Phila) 5:245-52 (2016)
 DOI:<a href=""https://doi.org/10.1097/APO.0000000000000209"">10.1097/APO.0000000000000209</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25389847"">25389847</a>
 著者        Ji SX, Yin XL, He XG, Yuan RD, Ye J, Liu SZ, Gan XM, Dong Y
 タイトル      Bietti crystalline dystrophy with bilateral macular holes.
 雑誌        Retin Cases Brief Rep 3:361-3 (2009)
 DOI:<a href=""https://doi.org/10.1097/ICB.0b013e3181780832"">10.1097/ICB.0b013e3181780832</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15042513"">15042513</a>
 著者        Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF
 タイトル      Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
 雑誌        Am J Hum Genet 74:817-26 (2004)
 DOI:<a href=""https://doi.org/10.1086/383228"">10.1086/383228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15937078"">15937078</a>
 著者        Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
 タイトル      Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
 雑誌        J Med Genet 42:e38 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.029066"">10.1136/jmg.2004.029066</a>"
H02108,"基底膜ドルーゼン
 上位グループ    家族性斑点網膜症 [DS:H00825]",,,"Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised, yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease.",神経系疾患,,CFH [HSA:3075] [KO:K04004],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C563034
 OMIM: 126700","PMID:3985082
 著者        Gass JD, Jallow S, Davis B
 タイトル      Adult vitelliform macular detachment occurring in patients with basal laminar drusen.
 雑誌        Am J Ophthalmol 99:445-59 (1985)
 DOI:10.1016/0002-9394(85)90012-1
 PMID:18252232
 著者        Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI
 タイトル      Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
 雑誌        Am J Hum Genet 82:516-23 (2008)
 DOI:10.1016/j.ajhg.2007.11.007
 PMID:18040253
 著者        Meyerle CB, Smith RT, Barbazetto IA, Yannuzzi LA
 タイトル      Autofluorescence of basal laminar drusen.
 雑誌        Retina 27:1101-6 (2007)
 DOI:10.1097/IAE.0b013e3181451617","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02108"">H02108</a>","基底膜ドルーゼン
 上位グループ    家族性斑点網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00825"">H00825</a>]","Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised, yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease.",,"CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563034"">C563034</a>
 OMIM: <a href=""https://www.omim.org/entry/126700"">126700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3985082"">3985082</a>
 著者        Gass JD, Jallow S, Davis B
 タイトル      Adult vitelliform macular detachment occurring in patients with basal laminar drusen.
 雑誌        Am J Ophthalmol 99:445-59 (1985)
 DOI:<a href=""https://doi.org/10.1016/0002-9394(85)90012-1"">10.1016/0002-9394(85)90012-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252232"">18252232</a>
 著者        Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI
 タイトル      Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
 雑誌        Am J Hum Genet 82:516-23 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.11.007"">10.1016/j.ajhg.2007.11.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18040253"">18040253</a>
 著者        Meyerle CB, Smith RT, Barbazetto IA, Yannuzzi LA
 タイトル      Autofluorescence of basal laminar drusen.
 雑誌        Retina 27:1101-6 (2007)
 DOI:<a href=""https://doi.org/10.1097/IAE.0b013e3181451617"">10.1097/IAE.0b013e3181451617</a>"
H02109,マロン酸およびメチルマロン酸尿合併症,,,"Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of methylmalonic acidemia, malonyl-CoA decarboxylase activity is normal. Mutations in ACSF3 have been identified as a cause of CMAMMA. ACSF3 encodes an enzyme that catalyzes the initial reaction in intramitochondrial fatty acid synthesis.",先天性代謝異常症,,ACSF3 [HSA:197322] [KO:K18660],,,,,,"ICD-11: 5C50.EY
 ICD-10: E71.1
 MeSH: C580002
 OMIM: 614265","PMID:21841779
 著者        Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP
 タイトル      Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
 雑誌        Nat Genet 43:883-6 (2011)
 DOI:10.1038/ng.908
 PMID:21785126
 著者        Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N
 タイトル      Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
 雑誌        J Med Genet 48:602-5 (2011)
 DOI:10.1136/jmedgenet-2011-100230","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02109"">H02109</a>",マロン酸およびメチルマロン酸尿合併症,"Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of methylmalonic acidemia, malonyl-CoA decarboxylase activity is normal. Mutations in ACSF3 have been identified as a cause of CMAMMA. ACSF3 encodes an enzyme that catalyzes the initial reaction in intramitochondrial fatty acid synthesis.",,"ACSF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197322"">197322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18660"">K18660</a>]",,,,,,"ICD-11: 5C50.EY
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C580002"">C580002</a>
 OMIM: <a href=""https://www.omim.org/entry/614265"">614265</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21841779"">21841779</a>
 著者        Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP
 タイトル      Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
 雑誌        Nat Genet 43:883-6 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.908"">10.1038/ng.908</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21785126"">21785126</a>
 著者        Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N
 タイトル      Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
 雑誌        J Med Genet 48:602-5 (2011)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2011-100230"">10.1136/jmedgenet-2011-100230</a>"
H02110,"Doyne 蜂巣状網膜ジストロフィー;
 家族性ドルーゼン
 上位グループ    家族性斑点網膜症 [DS:H00825]",,,"Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. It is usually detected in early adult life and rarely in childhood-onset cases. Based on different patterns of drusen (radia patternl in ML or honeycomb pattern in DHRD) and other phenotypic variability, ML and DHRD were considered separate entities until 1999 when a single mutation in the gene EFEMP1 was found to be responsible for both conditions.",神経系疾患,,EFEMP1 [HSA:2202] [KO:K18262],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C535602
 OMIM: 126600","PMID:15512998
 著者        Marmorstein L
 タイトル      Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
 雑誌        Ophthalmic Genet 25:219-26 (2004)
 DOI:10.1080/13816810490498305
 PMID:17666404
 著者        Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA
 タイトル      The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
 雑誌        Hum Mol Genet 16:2411-22 (2007)
 DOI:10.1093/hmg/ddm198
 PMID:10369267
 著者        Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF
 タイトル      A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
 雑誌        Nat Genet 22:199-202 (1999)
 DOI:10.1038/9722","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02110"">H02110</a>","Doyne 蜂巣状網膜ジストロフィー;
 家族性ドルーゼン
 上位グループ    家族性斑点網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00825"">H00825</a>]","Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. It is usually detected in early adult life and rarely in childhood-onset cases. Based on different patterns of drusen (radia patternl in ML or honeycomb pattern in DHRD) and other phenotypic variability, ML and DHRD were considered separate entities until 1999 when a single mutation in the gene EFEMP1 was found to be responsible for both conditions.",,"EFEMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2202"">2202</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18262"">K18262</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535602"">C535602</a>
 OMIM: <a href=""https://www.omim.org/entry/126600"">126600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15512998"">15512998</a>
 著者        Marmorstein L
 タイトル      Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
 雑誌        Ophthalmic Genet 25:219-26 (2004)
 DOI:<a href=""https://doi.org/10.1080/13816810490498305"">10.1080/13816810490498305</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17666404"">17666404</a>
 著者        Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA
 タイトル      The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
 雑誌        Hum Mol Genet 16:2411-22 (2007)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddm198"">10.1093/hmg/ddm198</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10369267"">10369267</a>
 著者        Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF
 タイトル      A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
 雑誌        Nat Genet 22:199-202 (1999)
 DOI:<a href=""https://doi.org/10.1038/9722"">10.1038/9722</a>"
H02111,"自閉症;
 自閉症スペクトラム障害;
 広汎性発達障害",,,"Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.",精神及び行動の障害,,"(AUTS15) CNTNAP2 [HSA:26047] [KO:K07380]
 (AUTS16) SLC9A9 [HSA:285195] [KO:K14725]
 (AUTS17) SHANK2 [HSA:22941] [KO:K15009]
 (AUTS18) CHD8 [HSA:57680] [KO:K04494]
 (AUTS19) EIF4E [HSA:1977] [KO:K03259]
 (AUTS20) NLGN1 [HSA:22871] [KO:K07378]
 (AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
 (AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
 (AUTSX3) MECP2 [HSA:4204] [KO:K11588]
 (AUTSX4) PTCHD1 [HSA:139411] [KO:K24682]
 (AUTSX5) RPL10 [HSA:6134] [KO:K02866]
 (AUTSX6) TMLHE [HSA:55217] [KO:K00474]",,,,,,"ICD-11: 6A02
 ICD-10: F84.0
 MeSH: D001321
 OMIM: 209850 612100 613410 613436 615032 615091 300425 300495 300496 300830 300847 300872 618830","PMID:24074734
 著者        Lai MC, Lombardo MV, Baron-Cohen S
 タイトル      Autism.
 雑誌        Lancet 383:896-910 (2014)
 DOI:10.1016/S0140-6736(13)61539-1
 PMID:19819542
 著者        Levy SE, Mandell DS, Schultz RT
 タイトル      Autism.
 雑誌        Lancet 374:1627-38 (2009)
 DOI:10.1016/S0140-6736(09)61376-3
 PMID:15121991
 著者        Muhle R, Trentacoste SV, Rapin I
 タイトル      The genetics of autism.
 雑誌        Pediatrics 113:e472-86 (2004)
 DOI:10.1542/peds.113.5.e472
 PMID:18621663
 著者        Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA
 タイトル      Identifying autism loci and genes by tracing recent shared ancestry.
 雑誌        Science 321:218-23 (2008)
 DOI:10.1126/science.1157657
 PMID:20473310
 著者        Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA
 タイトル      Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
 雑誌        Nat Genet 42:489-91 (2010)
 DOI:10.1038/ng.589
 PMID:24998929
 著者        Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE
 タイトル      Disruptive CHD8 mutations define a subtype of autism early in development.
 雑誌        Cell 158:263-276 (2014)
 DOI:10.1016/j.cell.2014.06.017
 PMID:19556253
 著者        Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A, Shen SB, Clair DS, Miedzybrodzka Z
 タイトル      Deregulation of EIF4E: a novel mechanism for autism.
 雑誌        J Med Genet 46:759-65 (2009)
 DOI:10.1136/jmg.2009.066852
 PMID:16940977
 著者        Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmotzer G, Poustka F, Breitenbach-Koller L, Poustka A
 タイトル      Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
 雑誌        Mol Psychiatry 11:1073-84 (2006)
 DOI:10.1038/sj.mp.4001883
 PMID:25131214
 著者        Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT
 タイトル      Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
 雑誌        Clin Genet 88:224-33 (2015)
 DOI:10.1111/cge.12482
 PMID:22566635
 著者        Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL
 タイトル      A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
 雑誌        Proc Natl Acad Sci U S A 109:7974-81 (2012)
 DOI:10.1073/pnas.1120210109
 PMID:28841651
 著者        Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T
 タイトル      Functional significance of rare neuroligin 1 variants found in autism.
 雑誌        PLoS Genet 13:e1006940 (2017)
 DOI:10.1371/journal.pgen.1006940","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02111"">H02111</a>","自閉症;
 自閉症スペクトラム障害;
 広汎性発達障害","Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.",,"(AUTS15) CNTNAP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26047"">26047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07380"">K07380</a>]
 (AUTS16) SLC9A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:285195"">285195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14725"">K14725</a>]
 (AUTS17) SHANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22941"">22941</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15009"">K15009</a>]
 (AUTS18) CHD8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57680"">57680</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04494"">K04494</a>]
 (AUTS19) EIF4E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1977"">1977</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03259"">K03259</a>]
 (AUTS20) NLGN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22871"">22871</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07378"">K07378</a>]
 (AUTSX1) NLGN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54413"">54413</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07378"">K07378</a>]
 (AUTSX2) NLGN4X [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57502"">57502</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07378"">K07378</a>]
 (AUTSX3) MECP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4204"">4204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11588"">K11588</a>]
 (AUTSX4) PTCHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:139411"">139411</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24682"">K24682</a>]
 (AUTSX5) RPL10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6134"">6134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02866"">K02866</a>]
 (AUTSX6) TMLHE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55217"">55217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00474"">K00474</a>]",,,,,,"ICD-11: 6A02
 ICD-10: F84.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001321"">D001321</a>
 OMIM: <a href=""https://www.omim.org/entry/209850"">209850</a> <a href=""https://www.omim.org/entry/612100"">612100</a> <a href=""https://www.omim.org/entry/613410"">613410</a> <a href=""https://www.omim.org/entry/613436"">613436</a> <a href=""https://www.omim.org/entry/615032"">615032</a> <a href=""https://www.omim.org/entry/615091"">615091</a> <a href=""https://www.omim.org/entry/300425"">300425</a> <a href=""https://www.omim.org/entry/300495"">300495</a> <a href=""https://www.omim.org/entry/300496"">300496</a> <a href=""https://www.omim.org/entry/300830"">300830</a> <a href=""https://www.omim.org/entry/300847"">300847</a> <a href=""https://www.omim.org/entry/300872"">300872</a> <a href=""https://www.omim.org/entry/618830"">618830</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24074734"">24074734</a>
 著者        Lai MC, Lombardo MV, Baron-Cohen S
 タイトル      Autism.
 雑誌        Lancet 383:896-910 (2014)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(13)61539-1"">10.1016/S0140-6736(13)61539-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19819542"">19819542</a>
 著者        Levy SE, Mandell DS, Schultz RT
 タイトル      Autism.
 雑誌        Lancet 374:1627-38 (2009)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(09)61376-3"">10.1016/S0140-6736(09)61376-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15121991"">15121991</a>
 著者        Muhle R, Trentacoste SV, Rapin I
 タイトル      The genetics of autism.
 雑誌        Pediatrics 113:e472-86 (2004)
 DOI:<a href=""https://doi.org/10.1542/peds.113.5.e472"">10.1542/peds.113.5.e472</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18621663"">18621663</a>
 著者        Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA
 タイトル      Identifying autism loci and genes by tracing recent shared ancestry.
 雑誌        Science 321:218-23 (2008)
 DOI:<a href=""https://doi.org/10.1126/science.1157657"">10.1126/science.1157657</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20473310"">20473310</a>
 著者        Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA
 タイトル      Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
 雑誌        Nat Genet 42:489-91 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.589"">10.1038/ng.589</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24998929"">24998929</a>
 著者        Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE
 タイトル      Disruptive CHD8 mutations define a subtype of autism early in development.
 雑誌        Cell 158:263-276 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2014.06.017"">10.1016/j.cell.2014.06.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19556253"">19556253</a>
 著者        Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A, Shen SB, Clair DS, Miedzybrodzka Z
 タイトル      Deregulation of EIF4E: a novel mechanism for autism.
 雑誌        J Med Genet 46:759-65 (2009)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.066852"">10.1136/jmg.2009.066852</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16940977"">16940977</a>
 著者        Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmotzer G, Poustka F, Breitenbach-Koller L, Poustka A
 タイトル      Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
 雑誌        Mol Psychiatry 11:1073-84 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.mp.4001883"">10.1038/sj.mp.4001883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25131214"">25131214</a>
 著者        Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT
 タイトル      Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
 雑誌        Clin Genet 88:224-33 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12482"">10.1111/cge.12482</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22566635"">22566635</a>
 著者        Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL
 タイトル      A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
 雑誌        Proc Natl Acad Sci U S A 109:7974-81 (2012)
 DOI:<a href=""https://doi.org/10.1073/pnas.1120210109"">10.1073/pnas.1120210109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28841651"">28841651</a>
 著者        Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T
 タイトル      Functional significance of rare neuroligin 1 variants found in autism.
 雑誌        PLoS Genet 13:e1006940 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006940"">10.1371/journal.pgen.1006940</a>"
H02112,"硝子体血管系遺残;
 第一次硝子体過形成遺残",,,"Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.",神経系疾患,,ATOH7 [HSA:220202] [KO:K09083],,,,,,"ICD-11: LA13.0
 ICD-10: Q14.0
 MeSH: D054514
 OMIM: 221900","PMID:20092598
 著者        Shastry BS
 タイトル      Persistent hyperplastic primary vitreous: congenital malformation of the eye.
 雑誌        Clin Exp Ophthalmol 37:884-90 (2009)
 DOI:10.1111/j.1442-9071.2009.02150.x
 PMID:23929081
 著者        Tartarella MB, Takahagi RU, Braga AP, Fortes Filho JB
 タイトル      Persistent fetal vasculature: ocular features, management of cataract and outcomes.
 雑誌        Arq Bras Oftalmol 76:185-8 (2013)
 DOI:10.1590/S0004-27492013000300011
 PMID:22068589
 著者        Khan K, Logan CV, McKibbin M, Sheridan E, Elcioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M
 タイトル      Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
 雑誌        Hum Mol Genet 21:776-83 (2012)
 DOI:10.1093/hmg/ddr509","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02112"">H02112</a>","硝子体血管系遺残;
 第一次硝子体過形成遺残","Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.",,"ATOH7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:220202"">220202</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09083"">K09083</a>]",,,,,,"ICD-11: LA13.0
 ICD-10: Q14.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054514"">D054514</a>
 OMIM: <a href=""https://www.omim.org/entry/221900"">221900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20092598"">20092598</a>
 著者        Shastry BS
 タイトル      Persistent hyperplastic primary vitreous: congenital malformation of the eye.
 雑誌        Clin Exp Ophthalmol 37:884-90 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1442-9071.2009.02150.x"">10.1111/j.1442-9071.2009.02150.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23929081"">23929081</a>
 著者        Tartarella MB, Takahagi RU, Braga AP, Fortes Filho JB
 タイトル      Persistent fetal vasculature: ocular features, management of cataract and outcomes.
 雑誌        Arq Bras Oftalmol 76:185-8 (2013)
 DOI:<a href=""https://doi.org/10.1590/S0004-27492013000300011"">10.1590/S0004-27492013000300011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22068589"">22068589</a>
 著者        Khan K, Logan CV, McKibbin M, Sheridan E, Elcioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M
 タイトル      Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
 雑誌        Hum Mol Genet 21:776-83 (2012)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr509"">10.1093/hmg/ddr509</a>"
H02113,小児小脳-網膜変性症,,,"Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense mutations in a TCA enzyme, mitochondrial aconitase (ACO2), catalysing interconversion of citrate into isocitrate, have been reported in a sibship with infantile-onset encephalopathy, optic nerve involvement, and cerebellar atrophy.",神経系疾患,,ACO2 [HSA:50] [KO:K01681],,,,,,"ICD-11: 5C53.1
 ICD-10: E88.8
 OMIM: 614559","PMID:22405087
 著者        Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O
 タイトル      Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
 雑誌        Am J Hum Genet 90:518-23 (2012)
 DOI:10.1016/j.ajhg.2012.01.009
 PMID:25351951
 著者        Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C
 タイトル      Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
 雑誌        J Med Genet 51:834-8 (2014)
 DOI:10.1136/jmedgenet-2014-102532","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02113"">H02113</a>",小児小脳-網膜変性症,"Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense mutations in a TCA enzyme, mitochondrial aconitase (ACO2), catalysing interconversion of citrate into isocitrate, have been reported in a sibship with infantile-onset encephalopathy, optic nerve involvement, and cerebellar atrophy.",,"ACO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50"">50</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01681"">K01681</a>]",,,,,,"ICD-11: 5C53.1
 ICD-10: E88.8
 OMIM: <a href=""https://www.omim.org/entry/614559"">614559</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22405087"">22405087</a>
 著者        Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O
 タイトル      Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
 雑誌        Am J Hum Genet 90:518-23 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.01.009"">10.1016/j.ajhg.2012.01.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25351951"">25351951</a>
 著者        Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C
 タイトル      Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
 雑誌        J Med Genet 51:834-8 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102532"">10.1136/jmedgenet-2014-102532</a>"
H02114,"Spastic paraplegia, optic atrophy, and neuropathy",,,"Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.",神経系疾患,,KLC2 [HSA:64837] [KO:K10407],,,,,,"ICD-11: 8B44.01
 ICD-10: G11.4
 OMIM: 609541","PMID:15852396
 著者        Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M
 タイトル      Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
 雑誌        Ann Neurol 57:730-7 (2005)
 DOI:10.1002/ana.20478
 PMID:19344448
 著者        Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavacana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M
 タイトル      Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
 雑誌        Ann Hum Genet 73:382-7 (2009)
 DOI:10.1111/j.1469-1809.2009.00507.x
 PMID:26385635
 著者        Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olavio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S
 タイトル      Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
 雑誌        Hum Mol Genet 24:6877-85 (2015)
 DOI:10.1093/hmg/ddv388","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02114"">H02114</a>","Spastic paraplegia, optic atrophy, and neuropathy","Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.",,"KLC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64837"">64837</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10407"">K10407</a>]",,,,,,"ICD-11: 8B44.01
 ICD-10: G11.4
 OMIM: <a href=""https://www.omim.org/entry/609541"">609541</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15852396"">15852396</a>
 著者        Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M
 タイトル      Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
 雑誌        Ann Neurol 57:730-7 (2005)
 DOI:<a href=""https://doi.org/10.1002/ana.20478"">10.1002/ana.20478</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19344448"">19344448</a>
 著者        Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavacana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M
 タイトル      Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
 雑誌        Ann Hum Genet 73:382-7 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1469-1809.2009.00507.x"">10.1111/j.1469-1809.2009.00507.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26385635"">26385635</a>
 著者        Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olavio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S
 タイトル      Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
 雑誌        Hum Mol Genet 24:6877-85 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv388"">10.1093/hmg/ddv388</a>"
H02115,先天性外耳道閉鎖症,,,"Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, and, occasionally, the inner ear structures. Recently, heterozygous mutations in TSHZ1 was described to cause CAA in human. TSHZ1 has been shown to be important for murine middle-ear development.",先天奇形,,TSHZ1 [HSA:10194] [KO:K09236],,,,,,"ICD-11: LA22.2
 ICD-10: Q16.1
 MeSH: C564321
 OMIM: 607842","PMID:2770382
 著者        Schuknecht HF
 タイトル      Congenital aural atresia.
 雑誌        Laryngoscope 99:908-17 (1989)
 DOI:10.1288/00005537-198909000-00004
 PMID:22152683
 著者        Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW
 タイトル      Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.
 雑誌        Am J Hum Genet 89:813-9 (2011)
 DOI:10.1016/j.ajhg.2011.11.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02115"">H02115</a>",先天性外耳道閉鎖症,"Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, and, occasionally, the inner ear structures. Recently, heterozygous mutations in TSHZ1 was described to cause CAA in human. TSHZ1 has been shown to be important for murine middle-ear development.",,"TSHZ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10194"">10194</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09236"">K09236</a>]",,,,,,"ICD-11: LA22.2
 ICD-10: Q16.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564321"">C564321</a>
 OMIM: <a href=""https://www.omim.org/entry/607842"">607842</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2770382"">2770382</a>
 著者        Schuknecht HF
 タイトル      Congenital aural atresia.
 雑誌        Laryngoscope 99:908-17 (1989)
 DOI:<a href=""https://doi.org/10.1288/00005537-198909000-00004"">10.1288/00005537-198909000-00004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22152683"">22152683</a>
 著者        Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW
 タイトル      Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.
 雑誌        Am J Hum Genet 89:813-9 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.008"">10.1016/j.ajhg.2011.11.008</a>"
H02116,ホスホセリンホスファターゼ欠損症,,,"Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome, and in whom compound heterozygous mutation was later identified in PSPH gene. PSPH is the enzyme catalyzing the final and irreversible step of L-serine synthesis from the glycolytic intermediate, 3-phosphoglycerate.",先天代謝異常症,,PSPH [HSA:5723] [KO:K01079],,,,,,"ICD-11: 5C50.6
 ICD-10: E72.8
 OMIM: 614023","PMID:9222972
 著者        Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E
 タイトル      Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
 雑誌        J Med Genet 34:594-6 (1997)
 DOI:10.1136/jmg.34.7.594
 PMID:25080166
 著者        Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M
 タイトル      Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
 雑誌        Clin Genet 87:296-8 (2015)
 DOI:10.1111/cge.12445","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02116"">H02116</a>",ホスホセリンホスファターゼ欠損症,"Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome, and in whom compound heterozygous mutation was later identified in PSPH gene. PSPH is the enzyme catalyzing the final and irreversible step of L-serine synthesis from the glycolytic intermediate, 3-phosphoglycerate.",,"PSPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5723"">5723</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01079"">K01079</a>]",,,,,,"ICD-11: 5C50.6
 ICD-10: E72.8
 OMIM: <a href=""https://www.omim.org/entry/614023"">614023</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9222972"">9222972</a>
 著者        Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E
 タイトル      Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
 雑誌        J Med Genet 34:594-6 (1997)
 DOI:<a href=""https://doi.org/10.1136/jmg.34.7.594"">10.1136/jmg.34.7.594</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25080166"">25080166</a>
 著者        Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M
 タイトル      Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
 雑誌        Clin Genet 87:296-8 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12445"">10.1111/cge.12445</a>"
H02117,Neu-Laxova 症候群,,,"Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations in the genes encoding enzymes of the L-serine biosynthesis pathway.",先天代謝異常症,,"PHGDH [HSA:26227] [KO:K00058]
 PSAT1 [HSA:29968] [KO:K00831]",,,,,"See also H01079, H01082, and H02116.","ICD-11: LD20.1
 ICD-10: E72.8
 MeSH: C536405
 OMIM: 256520 616038","PMID:5547878
 著者        Neu RL, Kajii T, Gardner LI, Nagyfy SF
 タイトル      A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.
 雑誌        Pediatrics 47:610-2 (1971)
 PMID:14994231
 著者        Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE
 タイトル      Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
 雑誌        Am J Med Genet A 125A:240-9 (2004)
 DOI:10.1002/ajmg.a.20467
 PMID:24836451
 著者        Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS
 タイトル      Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
 雑誌        Am J Hum Genet 94:898-904 (2014)
 DOI:10.1016/j.ajhg.2014.04.015
 PMID:25152457
 著者        Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjold M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M
 タイトル      Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
 雑誌        Am J Hum Genet 95:285-93 (2014)
 DOI:10.1016/j.ajhg.2014.07.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02117"">H02117</a>",Neu-Laxova 症候群,"Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations in the genes encoding enzymes of the L-serine biosynthesis pathway.",,"PHGDH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26227"">26227</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00058"">K00058</a>]
 PSAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29968"">29968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00831"">K00831</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01079,"">H01079,</a> <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01082,"">H01082,</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02116."">H02116.</a>","ICD-11: LD20.1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536405"">C536405</a>
 OMIM: <a href=""https://www.omim.org/entry/256520"">256520</a> <a href=""https://www.omim.org/entry/616038"">616038</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5547878"">5547878</a>
 著者        Neu RL, Kajii T, Gardner LI, Nagyfy SF
 タイトル      A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.
 雑誌        Pediatrics 47:610-2 (1971)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14994231"">14994231</a>
 著者        Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE
 タイトル      Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
 雑誌        Am J Med Genet A 125A:240-9 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20467"">10.1002/ajmg.a.20467</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24836451"">24836451</a>
 著者        Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS
 タイトル      Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
 雑誌        Am J Hum Genet 94:898-904 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.015"">10.1016/j.ajhg.2014.04.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25152457"">25152457</a>
 著者        Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjold M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M
 タイトル      Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
 雑誌        Am J Hum Genet 95:285-93 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.012"">10.1016/j.ajhg.2014.07.012</a>"
H02118,Otocephaly,,,"Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly can be distinctly classified as a consequence of genetic and teratogenic factors. Recently, molecular genetic studies led to the identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs like streptonigrin antibiotics, trypan blue, theophylline, beclomethasone, salicylates, amidopyrine, mycophenolate, and phenytoin may increase the risk among pregnancies.",先天奇形,,PRRX1 [HSA:5396] [KO:K09329],,,,,,"ICD-11: LA23
 MeSH: C537996
 OMIM: 202650","PMID:6846401
 著者        Pauli RM, Pettersen JC, Arya S, Gilbert EF
 タイトル      Familial agnathia-holoprosencephaly.
 雑誌        Am J Med Genet 14:677-98 (1983)
 DOI:10.1002/ajmg.1320140411
 PMID:20849990
 著者        Gekas J, Li B, Kamnasaran D
 タイトル      Current perspectives on the etiology of agnathia-otocephaly.
 雑誌        Eur J Med Genet 53:358-66 (2010)
 DOI:10.1016/j.ejmg.2010.09.002
 PMID:17438667
 著者        Faye-Petersen O, David E, Rangwala N, Seaman JP, Hua Z, Heller DS
 タイトル      Otocephaly: report of five new cases and a literature review.
 雑誌        Fetal Pediatr Pathol 25:277-96 (2006)
 DOI:10.1080/15513810601123417
 PMID:21294718
 著者        Sergi C, Kamnasaran D
 タイトル      PRRX1 is mutated in a fetus with agnathia-otocephaly.
 雑誌        Clin Genet 79:293-5 (2011)
 DOI:10.1111/j.1399-0004.2010.01531.x
 PMID:22211708
 著者        Celik T, Simsek PO, Sozen T, Ozyuncu O, Utine GE, Talim B, Yigit S, Boduroglu K, Kamnasaran D
 タイトル      PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.
 雑誌        Clin Genet 81:294-7 (2012)
 DOI:10.1111/j.1399-0004.2011.01730.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02118"">H02118</a>",Otocephaly,"Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly can be distinctly classified as a consequence of genetic and teratogenic factors. Recently, molecular genetic studies led to the identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs like streptonigrin antibiotics, trypan blue, theophylline, beclomethasone, salicylates, amidopyrine, mycophenolate, and phenytoin may increase the risk among pregnancies.",,"PRRX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5396"">5396</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09329"">K09329</a>]",,,,,,"ICD-11: LA23
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537996"">C537996</a>
 OMIM: <a href=""https://www.omim.org/entry/202650"">202650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6846401"">6846401</a>
 著者        Pauli RM, Pettersen JC, Arya S, Gilbert EF
 タイトル      Familial agnathia-holoprosencephaly.
 雑誌        Am J Med Genet 14:677-98 (1983)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320140411"">10.1002/ajmg.1320140411</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20849990"">20849990</a>
 著者        Gekas J, Li B, Kamnasaran D
 タイトル      Current perspectives on the etiology of agnathia-otocephaly.
 雑誌        Eur J Med Genet 53:358-66 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2010.09.002"">10.1016/j.ejmg.2010.09.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17438667"">17438667</a>
 著者        Faye-Petersen O, David E, Rangwala N, Seaman JP, Hua Z, Heller DS
 タイトル      Otocephaly: report of five new cases and a literature review.
 雑誌        Fetal Pediatr Pathol 25:277-96 (2006)
 DOI:<a href=""https://doi.org/10.1080/15513810601123417"">10.1080/15513810601123417</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21294718"">21294718</a>
 著者        Sergi C, Kamnasaran D
 タイトル      PRRX1 is mutated in a fetus with agnathia-otocephaly.
 雑誌        Clin Genet 79:293-5 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2010.01531.x"">10.1111/j.1399-0004.2010.01531.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22211708"">22211708</a>
 著者        Celik T, Simsek PO, Sozen T, Ozyuncu O, Utine GE, Talim B, Yigit S, Boduroglu K, Kamnasaran D
 タイトル      PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.
 雑誌        Clin Genet 81:294-7 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01730.x"">10.1111/j.1399-0004.2011.01730.x</a>"
H02119,プロテウス症候群,,,"Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, mosaic distribution of lesions, and a progressive course in addition to various specific criteria. These specific manifestations include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts.",先天奇形,,AKT1 [HSA:207] [KO:K04456],,,,,See also H00539 and H01222.,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: D016715
 OMIM: 176920","PMID:6873112
 著者        Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E
 タイトル      The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.
 雑誌        Eur J Pediatr 140:5-12 (1983)
 DOI:10.1007/BF00661895
 PMID:28502730
 著者        Akgumus G, Chang F, Li MM
 タイトル      Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
 雑誌        J Mol Diagn 19:487-497 (2017)
 DOI:10.1016/j.jmoldx.2017.04.001
 PMID:15372514
 著者        Turner JT, Cohen MM Jr, Biesecker LG
 タイトル      Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
 雑誌        Am J Med Genet A 130A:111-22 (2004)
 DOI:10.1002/ajmg.a.30327
 PMID:23992099
 著者        Cohen MM Jr
 タイトル      Proteus syndrome review: molecular, clinical, and pathologic features.
 雑誌        Clin Genet 85:111-9 (2014)
 DOI:10.1111/cge.12266
 PMID:21793738
 著者        Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG
 タイトル      A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
 雑誌        N Engl J Med 365:611-9 (2011)
 DOI:10.1056/NEJMoa1104017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02119"">H02119</a>",プロテウス症候群,"Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, mosaic distribution of lesions, and a progressive course in addition to various specific criteria. These specific manifestations include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts.",,"AKT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:207"">207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04456"">K04456</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00539"">H00539</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01222."">H01222.</a>","ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016715"">D016715</a>
 OMIM: <a href=""https://www.omim.org/entry/176920"">176920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6873112"">6873112</a>
 著者        Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E
 タイトル      The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.
 雑誌        Eur J Pediatr 140:5-12 (1983)
 DOI:<a href=""https://doi.org/10.1007/BF00661895"">10.1007/BF00661895</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28502730"">28502730</a>
 著者        Akgumus G, Chang F, Li MM
 タイトル      Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
 雑誌        J Mol Diagn 19:487-497 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jmoldx.2017.04.001"">10.1016/j.jmoldx.2017.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15372514"">15372514</a>
 著者        Turner JT, Cohen MM Jr, Biesecker LG
 タイトル      Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
 雑誌        Am J Med Genet A 130A:111-22 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30327"">10.1002/ajmg.a.30327</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23992099"">23992099</a>
 著者        Cohen MM Jr
 タイトル      Proteus syndrome review: molecular, clinical, and pathologic features.
 雑誌        Clin Genet 85:111-9 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12266"">10.1111/cge.12266</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21793738"">21793738</a>
 著者        Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG
 タイトル      A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
 雑誌        N Engl J Med 365:611-9 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1104017"">10.1056/NEJMoa1104017</a>"
H02120,"無脳症
 上位グループ    神経管欠損症 [DS:H02563]",,,"Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance has been reported. Women with elevated levels of plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at an increased risk of having a child with neural tube defect (NTD). NTDs are the second most common type of birth defects and include anencephaly and open spina bifida [DS:H00262].",先天奇形,,"(ANPH1) TRIM36 [HSA:55521] [KO:K12013]
 (ANPH2) NUAK2 [HSA:81788] [KO:K08800]",,,,,,"ICD-11: LA00.0
 ICD-10: Q00.0
 MeSH: D000757
 OMIM: 206500 619452","PMID:4591551
 著者        Nakano KK
 タイトル      Anencephaly: a review.
 雑誌        Dev Med Child Neurol 15:383-400 (1973)
 DOI:10.1111/j.1469-8749.1973.tb04899.x
 PMID:2406598
 タイトル      The infant with anencephaly.
 雑誌        N Engl J Med 322:669-74 (1990)
 DOI:10.1056/NEJM199003083221006
 PMID:28087737 (ANPH1)
 著者        Singh N, Kumble Bhat V, Tiwari A, Kodaganur SG, Tontanahal SJ, Sarda A, Malini KV, Kumar A
 タイトル      A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
 雑誌        Hum Mol Genet 26:1104-1114 (2017)
 DOI:10.1093/hmg/ddx020
 PMID:32845958 (ANPH2)
 著者        Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B
 タイトル      A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
 雑誌        J Exp Med 217:e20191561 (2020)
 DOI:10.1084/jem.20191561","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02120"">H02120</a>","無脳症
 上位グループ    神経管欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02563"">H02563</a>]","Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance has been reported. Women with elevated levels of plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at an increased risk of having a child with neural tube defect (NTD). NTDs are the second most common type of birth defects and include anencephaly and open spina bifida [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00262]."">H00262].</a>",,"(ANPH1) TRIM36 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55521"">55521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12013"">K12013</a>]
 (ANPH2) NUAK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81788"">81788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08800"">K08800</a>]",,,,,,"ICD-11: LA00.0
 ICD-10: Q00.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000757"">D000757</a>
 OMIM: <a href=""https://www.omim.org/entry/206500"">206500</a> <a href=""https://www.omim.org/entry/619452"">619452</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4591551"">4591551</a>
 著者        Nakano KK
 タイトル      Anencephaly: a review.
 雑誌        Dev Med Child Neurol 15:383-400 (1973)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.1973.tb04899.x"">10.1111/j.1469-8749.1973.tb04899.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2406598"">2406598</a>
 タイトル      The infant with anencephaly.
 雑誌        N Engl J Med 322:669-74 (1990)
 DOI:<a href=""https://doi.org/10.1056/NEJM199003083221006"">10.1056/NEJM199003083221006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28087737"">28087737</a> (ANPH1)
 著者        Singh N, Kumble Bhat V, Tiwari A, Kodaganur SG, Tontanahal SJ, Sarda A, Malini KV, Kumar A
 タイトル      A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
 雑誌        Hum Mol Genet 26:1104-1114 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx020"">10.1093/hmg/ddx020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32845958"">32845958</a> (ANPH2)
 著者        Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B
 タイトル      A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
 雑誌        J Exp Med 217:e20191561 (2020)
 DOI:<a href=""https://doi.org/10.1084/jem.20191561"">10.1084/jem.20191561</a>"
H02121,"Koolen-De Vries 症候群;
 17q21.31 微細欠失症候群",,,"Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital anomalies. The syndrome was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well.",染色体異常,,KANSL1 [HSA:284058] [KO:K18400],,,,,,"ICD-11: LD44.H0
 ICD-10: Q93.5
 MeSH: C566476
 OMIM: 610443","PMID:28440867
 著者        Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
 タイトル      The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
 雑誌        Epilepsia 58:1085-1094 (2017)
 DOI:10.1111/epi.13746
 PMID:22544363
 著者        Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB
 タイトル      Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
 雑誌        Nat Genet 44:639-41 (2012)
 DOI:10.1038/ng.2262
 PMID:22544367
 著者        Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G
 タイトル      Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
 雑誌        Nat Genet 44:636-8 (2012)
 DOI:10.1038/ng.2257
 PMID:26306646
 著者        Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Ounap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Florez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB
 タイトル      The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
 雑誌        Eur J Hum Genet 24:652-9 (2016)
 DOI:10.1038/ejhg.2015.178","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02121"">H02121</a>","Koolen-De Vries 症候群;
 17q21.31 微細欠失症候群","Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital anomalies. The syndrome was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well.",,"KANSL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284058"">284058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18400"">K18400</a>]",,,,,,"ICD-11: LD44.H0
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566476"">C566476</a>
 OMIM: <a href=""https://www.omim.org/entry/610443"">610443</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28440867"">28440867</a>
 著者        Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
 タイトル      The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
 雑誌        Epilepsia 58:1085-1094 (2017)
 DOI:<a href=""https://doi.org/10.1111/epi.13746"">10.1111/epi.13746</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22544363"">22544363</a>
 著者        Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB
 タイトル      Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
 雑誌        Nat Genet 44:639-41 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2262"">10.1038/ng.2262</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22544367"">22544367</a>
 著者        Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G
 タイトル      Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
 雑誌        Nat Genet 44:636-8 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2257"">10.1038/ng.2257</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26306646"">26306646</a>
 著者        Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Ounap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Florez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB
 タイトル      The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
 雑誌        Eur J Hum Genet 24:652-9 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2015.178"">10.1038/ejhg.2015.178</a>"
H02122,CAID 症候群,,,"Chronic atrial and intestinal dysrhythmia, termed CAID syndrome, is a cohesinopathy syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has been reported that a single homozygous mutation in SGOL1 predisposes to this generalized co-occurring cardiac and intestinal rhythm phenotype.",心疾患; 消化器疾患,,SGOL1 [HSA:151648] [KO:K11580],,,,,See also H00729 and H01276.,"ICD-11: BC65.Y
 ICD-10: I49.9 K59.8
 OMIM: 616201","PMID:25352100
 著者        Krantz ID
 タイトル      Cohesin embraces new phenotypes.
 雑誌        Nat Genet 46:1157-8 (2014)
 DOI:10.1038/ng.3123
 PMID:25282101
 著者        Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G
 タイトル      Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
 雑誌        Nat Genet 46:1245-9 (2014)
 DOI:10.1038/ng.3113","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02122"">H02122</a>",CAID 症候群,"Chronic atrial and intestinal dysrhythmia, termed CAID syndrome, is a cohesinopathy syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has been reported that a single homozygous mutation in SGOL1 predisposes to this generalized co-occurring cardiac and intestinal rhythm phenotype.",,"SGOL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:151648"">151648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11580"">K11580</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00729"">H00729</a> and <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H01276."">H01276.</a>","ICD-11: BC65.Y
 ICD-10: I49.9 K59.8
 OMIM: <a href=""https://www.omim.org/entry/616201"">616201</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25352100"">25352100</a>
 著者        Krantz ID
 タイトル      Cohesin embraces new phenotypes.
 雑誌        Nat Genet 46:1157-8 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3123"">10.1038/ng.3123</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25282101"">25282101</a>
 著者        Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G
 タイトル      Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
 雑誌        Nat Genet 46:1245-9 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3113"">10.1038/ng.3113</a>"
H02123,セリアック病,,,"Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient malabsorption. Susceptibility to celiac disease is strongly associated with particular HLA class II alleles. However, non-HLA genetic factors are likely to be required for the development of the disease. It has been reported that CTLA4 and MYO9B gene polymorphisms are associated with predisposition to celiac disease.",消化器系疾患,,"(CELIAC1) HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
 (CELIAC1) HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
 (CELIAC3) CTLA4 (polymorphism) [HSA:1493] [KO:K06538]
 (CELIAC4) MYO9B (polymorphism) [HSA:4650] [KO:K10360]",,,,,,"ICD-11: DA95
 ICD-10: K90.0
 MeSH: D002446
 OMIM: 212750 609755 609753","PMID:23050549
 著者        Megiorni F, Pizzuti A
 タイトル      HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
 雑誌        J Biomed Sci 19:88 (2012)
 DOI:10.1186/1423-0127-19-88
 PMID:10189842
 著者        Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S
 タイトル      CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.
 雑誌        Gut 43:187-9 (1998)
 DOI:10.1136/gut.43.2.187
 PMID:16282976
 著者        Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C
 タイトル      Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
 雑誌        Nat Genet 37:1341-4 (2005)
 DOI:10.1038/ng1680","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02123"">H02123</a>",セリアック病,"Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient malabsorption. Susceptibility to celiac disease is strongly associated with particular HLA class II alleles. However, non-HLA genetic factors are likely to be required for the development of the disease. It has been reported that CTLA4 and MYO9B gene polymorphisms are associated with predisposition to celiac disease.",,"(CELIAC1) HLA-DQA1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3117"">3117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 (CELIAC1) HLA-DQB1 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3119"">3119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 (CELIAC3) CTLA4 (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1493"">1493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06538"">K06538</a>]
 (CELIAC4) MYO9B (polymorphism) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4650"">4650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10360"">K10360</a>]",,,,,,"ICD-11: DA95
 ICD-10: K90.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002446"">D002446</a>
 OMIM: <a href=""https://www.omim.org/entry/212750"">212750</a> <a href=""https://www.omim.org/entry/609755"">609755</a> <a href=""https://www.omim.org/entry/609753"">609753</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23050549"">23050549</a>
 著者        Megiorni F, Pizzuti A
 タイトル      HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
 雑誌        J Biomed Sci 19:88 (2012)
 DOI:<a href=""https://doi.org/10.1186/1423-0127-19-88"">10.1186/1423-0127-19-88</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10189842"">10189842</a>
 著者        Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S
 タイトル      CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.
 雑誌        Gut 43:187-9 (1998)
 DOI:<a href=""https://doi.org/10.1136/gut.43.2.187"">10.1136/gut.43.2.187</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16282976"">16282976</a>
 著者        Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C
 タイトル      Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
 雑誌        Nat Genet 37:1341-4 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1680"">10.1038/ng1680</a>"
H02124,"間質性肺炎および肝疾患 (ILLD);
 肝障害を伴う遺伝性肺胞蛋白症",,,"Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.",呼吸器疾患,,MARS [HSA:4141] [KO:K01874],,,,,,"ICD-11: CB04.3Y
 ICD-10: J84.0
 OMIM: 615486","PMID:29655802
 著者        Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T
 タイトル      MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
 雑誌        Eur J Med Genet S1769-7212(17)30477-9 (2018)
 DOI:10.1016/j.ejmg.2018.04.005
 PMID:25913036
 著者        Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM
 タイトル      Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island.
 雑誌        Am J Hum Genet 96:826-31 (2015)
 DOI:10.1016/j.ajhg.2015.03.010
 PMID:24103465
 著者        van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS
 タイトル      Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
 雑誌        BMC Med Genet 14:106 (2013)
 DOI:10.1186/1471-2350-14-106","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02124"">H02124</a>","間質性肺炎および肝疾患 (ILLD);
 肝障害を伴う遺伝性肺胞蛋白症","Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.",,"MARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4141"">4141</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01874"">K01874</a>]",,,,,,"ICD-11: CB04.3Y
 ICD-10: J84.0
 OMIM: <a href=""https://www.omim.org/entry/615486"">615486</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29655802"">29655802</a>
 著者        Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T
 タイトル      MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
 雑誌        Eur J Med Genet S1769-7212(17)30477-9 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2018.04.005"">10.1016/j.ejmg.2018.04.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25913036"">25913036</a>
 著者        Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM
 タイトル      Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island.
 雑誌        Am J Hum Genet 96:826-31 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.03.010"">10.1016/j.ajhg.2015.03.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24103465"">24103465</a>
 著者        van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS
 タイトル      Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
 雑誌        BMC Med Genet 14:106 (2013)
 DOI:<a href=""https://doi.org/10.1186/1471-2350-14-106"">10.1186/1471-2350-14-106</a>"
H02125,拡張型心筋症を伴う心臓伝導障害,,,"Cardiac conduction disease with dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. TNNI3K mutation in this disease has been reported. The TNNI3K gene encodes the protein TNNI3 interacting kinase which is located at the sarcomere Z disc. It may play a crucial role in cardiac physiology.",循環器疾患,,TNNI3K [HSA:51086] [KO:K17535],,,,,,"ICD-11: BC63.Y
 ICD-10: I45.8
 MeSH: D000075224
 OMIM: 6161117","PMID:24925317
 著者        Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM
 タイトル      TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
 雑誌        Hum Mol Genet 23:5793-804 (2014)
 DOI:10.1093/hmg/ddu297
 PMID:29355681
 著者        Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Zhao SP, Xiang R
 タイトル      Whole exome sequencing identifies a novel mutation (c.333+2T>C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.
 雑誌        Gene 648:63-67 (2018)
 DOI:10.1016/j.gene.2018.01.055","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02125"">H02125</a>",拡張型心筋症を伴う心臓伝導障害,"Cardiac conduction disease with dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. TNNI3K mutation in this disease has been reported. The TNNI3K gene encodes the protein TNNI3 interacting kinase which is located at the sarcomere Z disc. It may play a crucial role in cardiac physiology.",,"TNNI3K [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51086"">51086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17535"">K17535</a>]",,,,,,"ICD-11: BC63.Y
 ICD-10: I45.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000075224"">D000075224</a>
 OMIM: <a href=""https://www.omim.org/entry/6161117"">6161117</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24925317"">24925317</a>
 著者        Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM
 タイトル      TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
 雑誌        Hum Mol Genet 23:5793-804 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu297"">10.1093/hmg/ddu297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29355681"">29355681</a>
 著者        Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Zhao SP, Xiang R
 タイトル      Whole exome sequencing identifies a novel mutation (c.333+2T>C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.
 雑誌        Gene 648:63-67 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2018.01.055"">10.1016/j.gene.2018.01.055</a>"
H02126,Mandibulofacial dysostosis with alopecia,,,"Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.",先天奇形,,EDNRA [HSA:1909] [KO:K04197],,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 OMIM: 616367","PMID:16116593
 著者        Cushman LJ, Torres-Martinez W, Weaver DD
 タイトル      Johnson-McMillin syndrome: report of a new case with novel features.
 雑誌        Birth Defects Res A Clin Mol Teratol 73:638-41 (2005)
 DOI:10.1002/bdra.20178
 PMID:25772936
 著者        Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschke P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J
 タイトル      Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
 雑誌        Am J Hum Genet 96:519-31 (2015)
 DOI:10.1016/j.ajhg.2015.01.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02126"">H02126</a>",Mandibulofacial dysostosis with alopecia,"Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.",,"EDNRA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1909"">1909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04197"">K04197</a>]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 OMIM: <a href=""https://www.omim.org/entry/616367"">616367</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16116593"">16116593</a>
 著者        Cushman LJ, Torres-Martinez W, Weaver DD
 タイトル      Johnson-McMillin syndrome: report of a new case with novel features.
 雑誌        Birth Defects Res A Clin Mol Teratol 73:638-41 (2005)
 DOI:<a href=""https://doi.org/10.1002/bdra.20178"">10.1002/bdra.20178</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25772936"">25772936</a>
 著者        Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschke P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J
 タイトル      Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
 雑誌        Am J Hum Genet 96:519-31 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.015"">10.1016/j.ajhg.2015.01.015</a>"
H02127,Yunis-Varon 症候群,,,"Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and missense mutations of FIG4 in affected individuals from unrelated families have been identified. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy.",先天奇形,,FIG4 [HSA:9896] [KO:K22913],,,,,,"ICD-11: LD24.23
 ICD-10: Q87.8
 MeSH: C536719
 OMIM: 216340","PMID:7395825
 著者        Yunis E, Varon H
 タイトル      Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.
 雑誌        Am J Dis Child 134:649-53 (1980)
 DOI:10.1001/archpedi.1980.02130190017005
 PMID:23623387
 著者        Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH
 タイトル      Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
 雑誌        Am J Hum Genet 92:781-91 (2013)
 DOI:10.1016/j.ajhg.2013.03.020
 PMID:18203163
 著者        Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
 タイトル      Yunis-Varon syndrome: further delineation of the phenotype.
 雑誌        Am J Med Genet A 146A:532-7 (2008)
 DOI:10.1002/ajmg.a.32135","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02127"">H02127</a>",Yunis-Varon 症候群,"Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and missense mutations of FIG4 in affected individuals from unrelated families have been identified. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy.",,"FIG4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9896"">9896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22913"">K22913</a>]",,,,,,"ICD-11: LD24.23
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536719"">C536719</a>
 OMIM: <a href=""https://www.omim.org/entry/216340"">216340</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7395825"">7395825</a>
 著者        Yunis E, Varon H
 タイトル      Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.
 雑誌        Am J Dis Child 134:649-53 (1980)
 DOI:<a href=""https://doi.org/10.1001/archpedi.1980.02130190017005"">10.1001/archpedi.1980.02130190017005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23623387"">23623387</a>
 著者        Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH
 タイトル      Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
 雑誌        Am J Hum Genet 92:781-91 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.020"">10.1016/j.ajhg.2013.03.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203163"">18203163</a>
 著者        Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
 タイトル      Yunis-Varon syndrome: further delineation of the phenotype.
 雑誌        Am J Med Genet A 146A:532-7 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32135"">10.1002/ajmg.a.32135</a>"
H02128,"リソソーム輸送障害
 下位グループ    ニーマン・ピック病 C 型 [DS:H00136]
 ムコリピドーシス II 型 [DS:H00143]
 ムコリピドーシス III 型 [DS:H02130]
 ムコリピドーシス IV 型 [DS:H00144]
 ヘルマンスキー・パドラック症候群 [DS:H00166]
 チェディアック・東症候群 [DS:H02021]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides. Mucolipidosis II/III are diseases of lysosomal protein trafficking. Mucolipidosis IV affects the LDL-receptor mediated endocytosis pathway. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are disorders of vesicle formation and trafficking.,先天性代謝異常症,,,,,,,,"ICD-11: 5C56.Y
 ICD-10: E77
 OMIM: 257220 252500 203300 214500","PMID:19124046
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:10.1016/j.bbamcr.2008.11.015
 PMID:11757585
 著者        Jansen SM, Groener JE, Bax W, Poorthuis BJ
 タイトル      Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
 雑誌        J Inherit Metab Dis 24:577-86 (2001)
 DOI:10.1023/A:1012467827719
 PMID:11487012
 著者        Huizing M, Anikster Y, Gahl WA
 タイトル      Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
 雑誌        Thromb Haemost 86:233-45 (2001)
 DOI:10.1055/s-0037-1616221","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>","リソソーム輸送障害
 下位グループ    ニーマン・ピック病 C 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00136"">H00136</a>]
 ムコリピドーシス II 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00143"">H00143</a>]
 ムコリピドーシス III 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02130"">H02130</a>]
 ムコリピドーシス IV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00144"">H00144</a>]
 ヘルマンスキー・パドラック症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00166"">H00166</a>]
 チェディアック・東症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02021"">H02021</a>]
 上位グループ    ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]",Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides. Mucolipidosis II/III are diseases of lysosomal protein trafficking. Mucolipidosis IV affects the LDL-receptor mediated endocytosis pathway. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are disorders of vesicle formation and trafficking.,,,,,,,,"ICD-11: 5C56.Y
 ICD-10: E77
 OMIM: <a href=""https://www.omim.org/entry/257220"">257220</a> <a href=""https://www.omim.org/entry/252500"">252500</a> <a href=""https://www.omim.org/entry/203300"">203300</a> <a href=""https://www.omim.org/entry/214500"">214500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19124046"">19124046</a>
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2008.11.015"">10.1016/j.bbamcr.2008.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11757585"">11757585</a>
 著者        Jansen SM, Groener JE, Bax W, Poorthuis BJ
 タイトル      Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
 雑誌        J Inherit Metab Dis 24:577-86 (2001)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1012467827719"">1012467827719</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11487012"">11487012</a>
 著者        Huizing M, Anikster Y, Gahl WA
 タイトル      Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
 雑誌        Thromb Haemost 86:233-45 (2001)
 DOI:<a href=""https://doi.org/10.1055/s-0037-1616221"">10.1055/s-0037-1616221</a>"
H02129,Prune belly 症候群,,,"Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating urinary bladder contraction upon micturition.",その他の疾患,,CHRM3 [HSA:1131] [KO:K04131],,,,,,"ICD-11: LD2F.10
 ICD-10: Q79.4
 MeSH: D011535
 OMIM: 100100","PMID:4382958
 著者        Williams DI, Burkholder GV
 タイトル      The prune belly syndrome.
 雑誌        J Urol 98:244-51 (1967)
 DOI:10.1016/S0022-5347(17)62864-7
 PMID:22077972
 著者        Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS
 タイトル      Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
 雑誌        Am J Hum Genet 89:668-74 (2011)
 DOI:10.1016/j.ajhg.2011.10.007
 PMID:24909464
 著者        Ekwunife OH, Ugwu JO, Modekwe V
 タイトル      Prune belly syndrome: early management outcome of nine consecutive cases.
 雑誌        Niger J Clin Pract 17:425-30 (2014)
 DOI:10.4103/1119-3077.134012
 PMID:22198807
 著者        Hassett S, Smith GH, Holland AJ
 タイトル      Prune belly syndrome.
 雑誌        Pediatr Surg Int 28:219-28 (2012)
 DOI:10.1007/s00383-011-3046-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02129"">H02129</a>",Prune belly 症候群,"Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating urinary bladder contraction upon micturition.",,"CHRM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1131"">1131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04131"">K04131</a>]",,,,,,"ICD-11: LD2F.10
 ICD-10: Q79.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011535"">D011535</a>
 OMIM: <a href=""https://www.omim.org/entry/100100"">100100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4382958"">4382958</a>
 著者        Williams DI, Burkholder GV
 タイトル      The prune belly syndrome.
 雑誌        J Urol 98:244-51 (1967)
 DOI:<a href=""https://doi.org/10.1016/S0022-5347(17)62864-7"">10.1016/S0022-5347(17)62864-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22077972"">22077972</a>
 著者        Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS
 タイトル      Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
 雑誌        Am J Hum Genet 89:668-74 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.007"">10.1016/j.ajhg.2011.10.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24909464"">24909464</a>
 著者        Ekwunife OH, Ugwu JO, Modekwe V
 タイトル      Prune belly syndrome: early management outcome of nine consecutive cases.
 雑誌        Niger J Clin Pract 17:425-30 (2014)
 DOI:<a href=""https://doi.org/10.4103/1119-3077.134012"">10.4103/1119-3077.134012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22198807"">22198807</a>
 著者        Hassett S, Smith GH, Holland AJ
 タイトル      Prune belly syndrome.
 雑誌        Pediatr Surg Int 28:219-28 (2012)
 DOI:<a href=""https://doi.org/10.1007/s00383-011-3046-6"">10.1007/s00383-011-3046-6</a>"
H02130,"ムコリピドーシス III 型;
 偽 Hurler ポリジストロフィー
 下位グループ    ムコリピドーシス III 型 α/β
 ムコリピドーシス III 型 γ
 上位グループ    リソソーム輸送障害 [DS:H02128]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that is exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTAG.",先天性代謝異常症,,"(alpha/beta) GNPTAB [HSA:79158] [KO:K08239]
 (gamma) GNPTAG [HSA:84572] [KO:K10087]",,,,,,"ICD-11: 5C56.20
 ICD-10: E77.0
 MeSH: D009081
 OMIM: 252600 252605","PMID:16465621
 著者        Kudo M, Brem MS, Canfield WM
 タイトル      Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
 雑誌        Am J Hum Genet 78:451-63 (2006)
 DOI:10.1086/500849
 PMID:16630736
 著者        Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A
 タイトル      When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
 雑誌        Mol Genet Metab 88:359-63 (2006)
 DOI:10.1016/j.ymgme.2006.03.003
 PMID:19124046
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:10.1016/j.bbamcr.2008.11.015
 PMID:15633164
 著者        Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B
 タイトル      A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
 雑誌        Am J Med Genet A 132A:369-75 (2005)
 DOI:10.1002/ajmg.a.30498
 PMID:19370764
 著者        Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T
 タイトル      Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
 雑誌        Hum Mutat 30:978-84 (2009)
 DOI:10.1002/humu.20959","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02130"">H02130</a>","ムコリピドーシス III 型;
 偽 Hurler ポリジストロフィー
 下位グループ    ムコリピドーシス III 型 α/β
 ムコリピドーシス III 型 γ
 上位グループ    リソソーム輸送障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02128"">H02128</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that is exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTAG.",,"(alpha/beta) GNPTAB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79158"">79158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08239"">K08239</a>]
 (gamma) GNPTAG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84572"">84572</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10087"">K10087</a>]",,,,,,"ICD-11: 5C56.20
 ICD-10: E77.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009081"">D009081</a>
 OMIM: <a href=""https://www.omim.org/entry/252600"">252600</a> <a href=""https://www.omim.org/entry/252605"">252605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16465621"">16465621</a>
 著者        Kudo M, Brem MS, Canfield WM
 タイトル      Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
 雑誌        Am J Hum Genet 78:451-63 (2006)
 DOI:<a href=""https://doi.org/10.1086/500849"">10.1086/500849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16630736"">16630736</a>
 著者        Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A
 タイトル      When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
 雑誌        Mol Genet Metab 88:359-63 (2006)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2006.03.003"">10.1016/j.ymgme.2006.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19124046"">19124046</a>
 著者        Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B
 タイトル      Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 雑誌        Biochim Biophys Acta 1793:710-25 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.bbamcr.2008.11.015"">10.1016/j.bbamcr.2008.11.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15633164"">15633164</a>
 著者        Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B
 タイトル      A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
 雑誌        Am J Med Genet A 132A:369-75 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30498"">10.1002/ajmg.a.30498</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19370764"">19370764</a>
 著者        Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T
 タイトル      Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
 雑誌        Hum Mutat 30:978-84 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.20959"">10.1002/humu.20959</a>"
H02131,"紫外線高感受性症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:H00403]",,,"UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity to skin cancer. UV(S)S and Cockayne syndrome [DS:H00076] are deficient in transcription-coupled nucleotide excision repair (TC-NER), a subpathway of nucleotide-excision repair (NER) that rapidly removes transcription-blocking DNA damage. The cellular and biochemical responses of UV(S)S and Cockayne syndrome cells to UV light are indistinguishable. Some UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively).",皮膚疾患,,"(UVSS1) ERCC6 [HSA:2074] [KO:K10841]
 (UVSS2) ERCC8 [HSA:1161] [KO:K10570]
 (UVSS3) UVSSA [HSA:57654] [KO:K23720]",,,,,See also H00076.,"ICD-11: EJ6Y
 ICD-10: Q82.8
 MeSH: C563466
 OMIM: 600630 614621 614640","PMID:19153657
 著者        Nouspikel T
 タイトル      DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
 雑誌        Cell Mol Life Sci 66:994-1009 (2009)
 DOI:10.1007/s00018-009-8737-y
 PMID:15486090 (ERCC6)
 著者        Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K
 タイトル      Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
 雑誌        Proc Natl Acad Sci U S A 101:15410-5 (2004)
 DOI:10.1073/pnas.0404587101
 PMID:19329487 (ERCC8)
 著者        Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M
 タイトル      A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
 雑誌        Proc Natl Acad Sci U S A 106:6209-14 (2009)
 DOI:10.1073/pnas.0902113106
 PMID:22466610 (UVSSA)
 著者        Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T
 タイトル      Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
 雑誌        Nat Genet 44:586-92 (2012)
 DOI:10.1038/ng.2229
 PMID:22466612 (ERCC6 UVSSA)
 著者        Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K
 タイトル      Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
 雑誌        Nat Genet 44:593-7 (2012)
 DOI:10.1038/ng.2228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02131"">H02131</a>","紫外線高感受性症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>]","UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity to skin cancer. UV(S)S and Cockayne syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00076"">H00076</a>] are deficient in transcription-coupled nucleotide excision repair (TC-NER), a subpathway of nucleotide-excision repair (NER) that rapidly removes transcription-blocking DNA damage. The cellular and biochemical responses of UV(S)S and Cockayne syndrome cells to UV light are indistinguishable. Some UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively).",,"(UVSS1) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (UVSS2) ERCC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1161"">1161</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10570"">K10570</a>]
 (UVSS3) UVSSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57654"">57654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23720"">K23720</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00076."">H00076.</a>","ICD-11: EJ6Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563466"">C563466</a>
 OMIM: <a href=""https://www.omim.org/entry/600630"">600630</a> <a href=""https://www.omim.org/entry/614621"">614621</a> <a href=""https://www.omim.org/entry/614640"">614640</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19153657"">19153657</a>
 著者        Nouspikel T
 タイトル      DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
 雑誌        Cell Mol Life Sci 66:994-1009 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00018-009-8737-y"">10.1007/s00018-009-8737-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15486090"">15486090</a> (ERCC6)
 著者        Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K
 タイトル      Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
 雑誌        Proc Natl Acad Sci U S A 101:15410-5 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0404587101"">10.1073/pnas.0404587101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19329487"">19329487</a> (ERCC8)
 著者        Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M
 タイトル      A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
 雑誌        Proc Natl Acad Sci U S A 106:6209-14 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0902113106"">10.1073/pnas.0902113106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22466610"">22466610</a> (UVSSA)
 著者        Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T
 タイトル      Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
 雑誌        Nat Genet 44:586-92 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2229"">10.1038/ng.2229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22466612"">22466612</a> (ERCC6 <a href=""https://pubmed.ncbi.nlm.nih.gov/UVSSA)"">UVSSA)</a>
 著者        Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K
 タイトル      Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
 雑誌        Nat Genet 44:593-7 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2228"">10.1038/ng.2228</a>"
H02132,"小頭症症候群
 下位グループ    アーミッシュ型小頭症 [DS:H00990]
 小頭症-毛細血管異形成症候群 [DS:H01872]
 網脈絡膜症およびリンパ浮腫または精神遅滞を伴う小頭症 [DS:H01876]
 常染色体劣性遺伝性小頭症および網脈絡膜症 [DS:H01880]
 小頭症・低身長・グルコース代謝異常 [DS:H01923]
 痙攣と脳萎縮を伴う出生後進行性の小頭症 (MCPHSBA)
 進行性・痙攣性で大脳と小脳の萎縮を伴う小頭症 (MSCCA)
 小頭症・先天性白内障 および 乾癬様皮膚炎 (MCCPD)
 小頭症・てんかん および 糖尿病症候群 (MEDS)
 小頭症・短肢症候群 (MIMIS)
 小頭症・低身長 および 多小脳回 (MSSP)
 小頭症・顔異形・腎欠損および外性器異常 (MFRG)
 小頭症・白内障・知的発達症および線条体異常を伴うジストニア (MCIDDS)
 小頭症・成長障害・痙攣および脳奇形 (MIGSB)
 小頭症・成長遅滞および脆弱毛症候群 (MDBH)",,,"Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes have been reported.",先天奇形,,"(MCPHSBA) MED17 [HSA:9440] [KO:K15133]
 (MSCCA) QARS [HSA:5859] [KO:K01886]
 (MCCPD) MSMO1 [HSA:6307] [KO:K07750]
 (MEDS1) IER3IP1 [HSA:51124] [KO:K22939]
 (MEDS2) YIPF5 [HSA:81555] [KO:K20363]
 (MIMIS) DONSON [HSA:29980] [KO:K22422]
 (MSSP) RTTN [HSA:25914] [KO:K16484]
 (MFRG) CTU2 [HSA:348180] [KO:K14169]
 (MCIDDS) KCNA4 [HSA:3739] [KO:K04877]
 (MIGSB) WDR4 [HSA:10785] [KO:K15443]
 (MDBH) CARS1 [HSA:833] [KO:K01883]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87
 OMIM: 613668 615760 616834 614231 617604 614833 618142 618284 618346 618891 619278","PMID:17980308
 著者        Abuelo D
 タイトル      Microcephaly syndromes.
 雑誌        Semin Pediatr Neurol 14:118-27 (2007)
 DOI:10.1016/j.spen.2007.07.003
 PMID:20950787 (MCPHSBA)
 著者        Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O
 タイトル      Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
 雑誌        Am J Hum Genet 87:667-70 (2010)
 DOI:10.1016/j.ajhg.2010.09.016
 PMID:24656866 (MSCCA)
 著者        Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Soll D, Walsh CA, Nabbout R
 タイトル      Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
 雑誌        Am J Hum Genet 94:547-58 (2014)
 DOI:10.1016/j.ajhg.2014.03.003
 PMID:22991235 (MEDS1)
 著者        Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG
 タイトル      A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
 雑誌        Am J Med Genet A 158A:2788-96 (2012)
 DOI:10.1002/ajmg.a.35583
 PMID:33164986 (MEDS2)
 著者        De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yildirim R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senee V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimaki-Vire J, Otonkoski T, Cnop M, Hattersley AT
 タイトル      YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
 雑誌        J Clin Invest 130:6338-6353 (2020)
 DOI:10.1172/JCI141455
 PMID:21285510 (MCCPD)
 著者        He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J
 タイトル      Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
 雑誌        J Clin Invest 121:976-84 (2011)
 DOI:10.1172/JCI42650
 PMID:28630177 (MIMIS)
 著者        Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA
 タイトル      Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
 雑誌        Genome Res 27:1323-1335 (2017)
 DOI:10.1101/gr.219899.116
 PMID:30121372 (MSSP)
 著者        Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschke P, Boddaert N, Bahi-Buisson N
 タイトル      Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
 雑誌        Eur J Med Genet 61:755-758 (2018)
 DOI:10.1016/j.ejmg.2018.08.001
 PMID:26633546 (MFRG)
 著者        Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS
 タイトル      Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
 雑誌        Genet Med 18:686-95 (2016)
 DOI:10.1038/gim.2015.147
 PMID:26416026 (MIGSB)
 著者        Shaheen R, Abdel-Salam GM, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH, Ismail SI, Emam BA, Phizicky EM, Alkuraya FS
 タイトル      Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
 雑誌        Genome Biol 16:210 (2015)
 DOI:10.1186/s13059-015-0779-x
 PMID:30824121 (MDBH)
 著者        Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS
 タイトル      Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
 雑誌        Am J Hum Genet 104:520-529 (2019)
 DOI:10.1016/j.ajhg.2019.01.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02132"">H02132</a>","小頭症症候群
 下位グループ    アーミッシュ型小頭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00990"">H00990</a>]
 小頭症-毛細血管異形成症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01872"">H01872</a>]
 網脈絡膜症およびリンパ浮腫または精神遅滞を伴う小頭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01876"">H01876</a>]
 常染色体劣性遺伝性小頭症および網脈絡膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01880"">H01880</a>]
 小頭症・低身長・グルコース代謝異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01923"">H01923</a>]
 痙攣と脳萎縮を伴う出生後進行性の小頭症 (MCPHSBA)
 進行性・痙攣性で大脳と小脳の萎縮を伴う小頭症 (MSCCA)
 小頭症・先天性白内障 および 乾癬様皮膚炎 (MCCPD)
 小頭症・てんかん および 糖尿病症候群 (MEDS)
 小頭症・短肢症候群 (MIMIS)
 小頭症・低身長 および 多小脳回 (MSSP)
 小頭症・顔異形・腎欠損および外性器異常 (MFRG)
 小頭症・白内障・知的発達症および線条体異常を伴うジストニア (MCIDDS)
 小頭症・成長障害・痙攣および脳奇形 (MIGSB)
 小頭症・成長遅滞および脆弱毛症候群 (MDBH)","Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes have been reported.",,"(MCPHSBA) MED17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9440"">9440</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15133"">K15133</a>]
 (MSCCA) QARS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5859"">5859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01886"">K01886</a>]
 (MCCPD) MSMO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6307"">6307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07750"">K07750</a>]
 (MEDS1) IER3IP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51124"">51124</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22939"">K22939</a>]
 (MEDS2) YIPF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81555"">81555</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20363"">K20363</a>]
 (MIMIS) DONSON [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29980"">29980</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22422"">K22422</a>]
 (MSSP) RTTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25914"">25914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16484"">K16484</a>]
 (MFRG) CTU2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348180"">348180</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14169"">K14169</a>]
 (MCIDDS) KCNA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3739"">3739</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04877"">K04877</a>]
 (MIGSB) WDR4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10785"">10785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15443"">K15443</a>]
 (MDBH) CARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:833"">833</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01883"">K01883</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87
 OMIM: <a href=""https://www.omim.org/entry/613668"">613668</a> <a href=""https://www.omim.org/entry/615760"">615760</a> <a href=""https://www.omim.org/entry/616834"">616834</a> <a href=""https://www.omim.org/entry/614231"">614231</a> <a href=""https://www.omim.org/entry/617604"">617604</a> <a href=""https://www.omim.org/entry/614833"">614833</a> <a href=""https://www.omim.org/entry/618142"">618142</a> <a href=""https://www.omim.org/entry/618284"">618284</a> <a href=""https://www.omim.org/entry/618346"">618346</a> <a href=""https://www.omim.org/entry/618891"">618891</a> <a href=""https://www.omim.org/entry/619278"">619278</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17980308"">17980308</a>
 著者        Abuelo D
 タイトル      Microcephaly syndromes.
 雑誌        Semin Pediatr Neurol 14:118-27 (2007)
 DOI:<a href=""https://doi.org/10.1016/j.spen.2007.07.003"">10.1016/j.spen.2007.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20950787"">20950787</a> (MCPHSBA)
 著者        Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O
 タイトル      Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
 雑誌        Am J Hum Genet 87:667-70 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.09.016"">10.1016/j.ajhg.2010.09.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24656866"">24656866</a> (MSCCA)
 著者        Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Soll D, Walsh CA, Nabbout R
 タイトル      Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
 雑誌        Am J Hum Genet 94:547-58 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.03.003"">10.1016/j.ajhg.2014.03.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22991235"">22991235</a> (MEDS1)
 著者        Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG
 タイトル      A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
 雑誌        Am J Med Genet A 158A:2788-96 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35583"">10.1002/ajmg.a.35583</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33164986"">33164986</a> (MEDS2)
 著者        De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yildirim R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senee V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimaki-Vire J, Otonkoski T, Cnop M, Hattersley AT
 タイトル      YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
 雑誌        J Clin Invest 130:6338-6353 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI141455"">10.1172/JCI141455</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21285510"">21285510</a> (MCCPD)
 著者        He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J
 タイトル      Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
 雑誌        J Clin Invest 121:976-84 (2011)
 DOI:<a href=""https://doi.org/10.1172/JCI42650"">10.1172/JCI42650</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28630177"">28630177</a> (MIMIS)
 著者        Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA
 タイトル      Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
 雑誌        Genome Res 27:1323-1335 (2017)
 DOI:<a href=""https://doi.org/10.1101/gr.219899.116"">10.1101/gr.219899.116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30121372"">30121372</a> (MSSP)
 著者        Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschke P, Boddaert N, Bahi-Buisson N
 タイトル      Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
 雑誌        Eur J Med Genet 61:755-758 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2018.08.001"">10.1016/j.ejmg.2018.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26633546"">26633546</a> (MFRG)
 著者        Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS
 タイトル      Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
 雑誌        Genet Med 18:686-95 (2016)
 DOI:<a href=""https://doi.org/10.1038/gim.2015.147"">10.1038/gim.2015.147</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26416026"">26416026</a> (MIGSB)
 著者        Shaheen R, Abdel-Salam GM, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH, Ismail SI, Emam BA, Phizicky EM, Alkuraya FS
 タイトル      Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
 雑誌        Genome Biol 16:210 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13059-015-0779-x"">10.1186/s13059-015-0779-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30824121"">30824121</a> (MDBH)
 著者        Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS
 タイトル      Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
 雑誌        Am J Hum Genet 104:520-529 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.01.006"">10.1016/j.ajhg.2019.01.006</a>"
H02133,Vici 症候群,,,"Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation. Profound developmental delay, progressive failure to thrive, and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver, and kidneys. A skeletal myopathy is consistently associated. Recent studies identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis.",免疫系疾患,,EPG5 [HSA:57724] [KO:K23883],,,,,,"ICD-11: 4A01.1Y
 ICD-10: D81.9
 MeSH: C535566
 OMIM: 242840","PMID:3344762
 著者        Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M
 タイトル      Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.
 雑誌        Am J Med Genet 29:1-8 (1988)
 DOI:10.1002/ajmg.1320290102
 PMID:29159459
 著者        Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J
 タイトル      EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
 雑誌        JIMD Rep 42:19-29 (2018)
 DOI:10.1007/8904_2017_71
 PMID:26927810
 著者        Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
 タイトル      Vici syndrome: a review.
 雑誌        Orphanet J Rare Dis 11:21 (2016)
 DOI:10.1186/s13023-016-0399-x
 PMID:25331754
 著者        Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Kruger U, Hecht J, Mundlos S, Robinson PN
 タイトル      First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
 雑誌        Am J Med Genet A 164A:3170-5 (2014)
 DOI:10.1002/ajmg.a.36772
 PMID:23222957
 著者        Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H
 タイトル      Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
 雑誌        Nat Genet 45:83-7 (2013)
 DOI:10.1038/ng.2497","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02133"">H02133</a>",Vici 症候群,"Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation. Profound developmental delay, progressive failure to thrive, and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver, and kidneys. A skeletal myopathy is consistently associated. Recent studies identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis.",,"EPG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57724"">57724</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23883"">K23883</a>]",,,,,,"ICD-11: 4A01.1Y
 ICD-10: D81.9
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535566"">C535566</a>
 OMIM: <a href=""https://www.omim.org/entry/242840"">242840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3344762"">3344762</a>
 著者        Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M
 タイトル      Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.
 雑誌        Am J Med Genet 29:1-8 (1988)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320290102"">10.1002/ajmg.1320290102</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29159459"">29159459</a>
 著者        Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J
 タイトル      EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
 雑誌        JIMD Rep 42:19-29 (2018)
 DOI:<a href=""https://doi.org/10.1007/8904_2017_71"">10.1007/8904_2017_71</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26927810"">26927810</a>
 著者        Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
 タイトル      Vici syndrome: a review.
 雑誌        Orphanet J Rare Dis 11:21 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13023-016-0399-x"">10.1186/s13023-016-0399-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25331754"">25331754</a>
 著者        Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Kruger U, Hecht J, Mundlos S, Robinson PN
 タイトル      First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
 雑誌        Am J Med Genet A 164A:3170-5 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36772"">10.1002/ajmg.a.36772</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23222957"">23222957</a>
 著者        Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H
 タイトル      Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
 雑誌        Nat Genet 45:83-7 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2497"">10.1038/ng.2497</a>"
H02134,"四肢異常を伴う眼球低形成;
 眼肢端症候群",,,"Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral microphthalmia, clinical anophthalmia, and limb abnormalities such as syndactyly, brachydactyly, camptodactyly, synostosis, hip dislocation, absence, or hypoplasia of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder.",先天奇形,,SMOC1 [HSA:64093] [KO:K24354],,,,,,"ICD-11: LD21.0
 ICD-10: Q87.2
 MeSH: C537769
 OMIM: 206920","PMID:6549566
 著者        Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM
 タイトル      Waardenburg's recessive anophthalmia syndrome.
 雑誌        Ophthalmic Paediatr Genet 4:13-8 (1984)
 DOI:10.3109/13816818409009888
 PMID:10607960
 著者        Cogulu O, Ozkinay F, Gunduz C, Sapmaz G, Ozkinay C
 タイトル      Waardenburg anophthalmia syndrome: report and review.
 雑誌        Am J Med Genet 90:173-4 (2000)
 DOI:10.1002/(SICI)1096-8628(20000117)90:2<173::AID-AJMG17>3.0.CO;2-N
 PMID:21194680
 著者        Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF
 タイトル      Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
 雑誌        Am J Hum Genet 88:92-8 (2011)
 DOI:10.1016/j.ajhg.2010.12.002
 PMID:21194678
 著者        Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
 タイトル      SMOC1 is essential for ocular and limb development in humans and mice.
 雑誌        Am J Hum Genet 88:30-41 (2011)
 DOI:10.1016/j.ajhg.2010.11.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02134"">H02134</a>","四肢異常を伴う眼球低形成;
 眼肢端症候群","Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral microphthalmia, clinical anophthalmia, and limb abnormalities such as syndactyly, brachydactyly, camptodactyly, synostosis, hip dislocation, absence, or hypoplasia of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder.",,"SMOC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64093"">64093</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24354"">K24354</a>]",,,,,,"ICD-11: LD21.0
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537769"">C537769</a>
 OMIM: <a href=""https://www.omim.org/entry/206920"">206920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6549566"">6549566</a>
 著者        Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM
 タイトル      Waardenburg's recessive anophthalmia syndrome.
 雑誌        Ophthalmic Paediatr Genet 4:13-8 (1984)
 DOI:<a href=""https://doi.org/10.3109/13816818409009888"">10.3109/13816818409009888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10607960"">10607960</a>
 著者        Cogulu O, Ozkinay F, Gunduz C, Sapmaz G, Ozkinay C
 タイトル      Waardenburg anophthalmia syndrome: report and review.
 雑誌        Am J Med Genet 90:173-4 (2000)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(20000117)90:"">10.1002/(SICI)1096-8628(20000117)90:</a><a href=""https://doi.org/2<173:"">2<173:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG17>3.0.CO;2-N"">AID-AJMG17>3.0.CO;2-N</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21194680"">21194680</a>
 著者        Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF
 タイトル      Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
 雑誌        Am J Hum Genet 88:92-8 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.002"">10.1016/j.ajhg.2010.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21194678"">21194678</a>
 著者        Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
 タイトル      SMOC1 is essential for ocular and limb development in humans and mice.
 雑誌        Am J Hum Genet 88:30-41 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.11.012"">10.1016/j.ajhg.2010.11.012</a>"
H02135,錐体杆体ジストロフィーおよび難聴,,,Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating mutations in CEP78 cause this disease.,神経系疾患,,"(CRDHL1) CEP78 [HSA:84131] [KO:K16765]
 (CRDHL2) CEP250 [HSA:11190] [KO:K16464]",,,,,,"ICD-11: LD2H.Y
 ICD-10: H35.5
 OMIM: 617236 618358","PMID:27588451
 著者        Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellstrom U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andreasson S, Rivolta C
 タイトル      Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
 雑誌        Am J Hum Genet 99:770-776 (2016)
 DOI:10.1016/j.ajhg.2016.07.009
 PMID:27588452
 著者        Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D
 タイトル      Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
 雑誌        Am J Hum Genet 99:777-784 (2016)
 DOI:10.1016/j.ajhg.2016.07.010
 PMID:30459346
 著者        Fuster-Garcia C, Garcia-Garcia G, Jaijo T, Fornes N, Ayuso C, Fernandez-Burriel M, Sanchez-De la Morena A, Aller E, Millan JM
 タイトル      High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
 雑誌        Sci Rep 8:17113 (2018)
 DOI:10.1038/s41598-018-35085-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02135"">H02135</a>",錐体杆体ジストロフィーおよび難聴,Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating mutations in CEP78 cause this disease.,,"(CRDHL1) CEP78 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84131"">84131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16765"">K16765</a>]
 (CRDHL2) CEP250 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11190"">11190</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16464"">K16464</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/617236"">617236</a> <a href=""https://www.omim.org/entry/618358"">618358</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27588451"">27588451</a>
 著者        Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellstrom U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andreasson S, Rivolta C
 タイトル      Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
 雑誌        Am J Hum Genet 99:770-776 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.009"">10.1016/j.ajhg.2016.07.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27588452"">27588452</a>
 著者        Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D
 タイトル      Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
 雑誌        Am J Hum Genet 99:777-784 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.010"">10.1016/j.ajhg.2016.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30459346"">30459346</a>
 著者        Fuster-Garcia C, Garcia-Garcia G, Jaijo T, Fornes N, Ayuso C, Fernandez-Burriel M, Sanchez-De la Morena A, Aller E, Millan JM
 タイトル      High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
 雑誌        Sci Rep 8:17113 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41598-018-35085-0"">10.1038/s41598-018-35085-0</a>"
H02136,"分岐鎖ケト酸脱水素酵素キナーゼ欠損症;
 BCKDK 欠損症",,,"Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low plasma levels of branched-chain amino acids.",先天性代謝異常症,,BCKDK [HSA:10295] [KO:K00905],,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 OMIM: 614923","PMID:24449431
 著者        Garcia-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejon E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacin M, Rodriguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjos M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agullo SB
 タイトル      Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
 雑誌        Hum Mutat 35:470-7 (2014)
 DOI:10.1002/humu.22513
 PMID:22956686
 著者        Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG
 タイトル      Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
 雑誌        Science 338:394-7 (2012)
 DOI:10.1126/science.1224631","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02136"">H02136</a>","分岐鎖ケト酸脱水素酵素キナーゼ欠損症;
 BCKDK 欠損症","Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low plasma levels of branched-chain amino acids.",,"BCKDK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10295"">10295</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00905"">K00905</a>]",,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 OMIM: <a href=""https://www.omim.org/entry/614923"">614923</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24449431"">24449431</a>
 著者        Garcia-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejon E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacin M, Rodriguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjos M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agullo SB
 タイトル      Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
 雑誌        Hum Mutat 35:470-7 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22513"">10.1002/humu.22513</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22956686"">22956686</a>
 著者        Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG
 タイトル      Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
 雑誌        Science 338:394-7 (2012)
 DOI:<a href=""https://doi.org/10.1126/science.1224631"">10.1126/science.1224631</a>"
H02137,"ローレンス・ムーン症候群
 上位グループ    PNPLA6 関連疾患 [DS:H01898]",,,"Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome.",神経系疾患,,PNPLA6 [HSA:10908] [KO:K14676],,,,,See also H00418.,"ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: D007849
 OMIM: 245800","PMID:20286155
 著者        ROTH AA
 タイトル      Familial eunuchoidism; the Laurence-Moon-Biedl syndrome.
 雑誌        J Urol 57:427-45 (1947)
 DOI:10.1016/S0022-5347(17)69652-6
 PMID:25480986
 著者        Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
 タイトル      Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
 雑誌        J Med Genet 52:85-94 (2015)
 DOI:10.1136/jmedgenet-2014-102856","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02137"">H02137</a>","ローレンス・ムーン症候群
 上位グループ    PNPLA6 関連疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01898"">H01898</a>]","Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome.",,"PNPLA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10908"">10908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14676"">K14676</a>]",,,,,"See also <a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H00418."">H00418.</a>","ICD-11: LD90.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007849"">D007849</a>
 OMIM: <a href=""https://www.omim.org/entry/245800"">245800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20286155"">20286155</a>
 著者        ROTH AA
 タイトル      Familial eunuchoidism; the Laurence-Moon-Biedl syndrome.
 雑誌        J Urol 57:427-45 (1947)
 DOI:<a href=""https://doi.org/10.1016/S0022-5347(17)69652-6"">10.1016/S0022-5347(17)69652-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25480986"">25480986</a>
 著者        Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
 タイトル      Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
 雑誌        J Med Genet 52:85-94 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102856"">10.1136/jmedgenet-2014-102856</a>"
H02138,"高カルシウム尿症を伴う遺伝性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:H00214]",,,"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients present with hypercalciuria due to increased serum 1, 25-dihydroxyvitamin D levels and increased intestinal calcium absorption. HHRH is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.",先天性代謝異常症,,SLC34A3 [HSA:142680] [KO:K14683],,,,,,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: C562793
 OMIM: 241530","PMID:16358214
 著者        Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H
 タイトル      SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
 雑誌        Am J Hum Genet 78:179-92 (2006)
 DOI:10.1086/499409
 PMID:16358215
 著者        Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
 タイトル      Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
 雑誌        Am J Hum Genet 78:193-201 (2006)
 DOI:10.1086/499410","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02138"">H02138</a>","高カルシウム尿症を伴う遺伝性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>]","Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients present with hypercalciuria due to increased serum 1, 25-dihydroxyvitamin D levels and increased intestinal calcium absorption. HHRH is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.",,"SLC34A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:142680"">142680</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14683"">K14683</a>]",,,,,,"ICD-11: 5C64.3
 ICD-10: E83.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562793"">C562793</a>
 OMIM: <a href=""https://www.omim.org/entry/241530"">241530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16358214"">16358214</a>
 著者        Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H
 タイトル      SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
 雑誌        Am J Hum Genet 78:179-92 (2006)
 DOI:<a href=""https://doi.org/10.1086/499409"">10.1086/499409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16358215"">16358215</a>
 著者        Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
 タイトル      Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
 雑誌        Am J Hum Genet 78:193-201 (2006)
 DOI:<a href=""https://doi.org/10.1086/499410"">10.1086/499410</a>"
H02139,"常染色体劣性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:H00214]",,,"Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially in osteoblasts and osteocytes, and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported.",先天性代謝異常症,,"(ARHR1) DMP1 [HSA:1758] [KO:K23328]
 (ARHR2) ENPP1 [HSA:5167] [KO:K01513]",,,,,,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: C562792 C567647
 OMIM: 241520 613312","PMID:20924400
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:10.1038/nrneph.2010.121
 PMID:17033621
 著者        Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE
 タイトル      Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
 雑誌        Nat Genet 38:1310-5 (2006)
 DOI:10.1038/ng1905
 PMID:20137772
 著者        Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
 タイトル      Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
 雑誌        Am J Hum Genet 86:273-8 (2010)
 DOI:10.1016/j.ajhg.2010.01.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02139"">H02139</a>","常染色体劣性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>]","Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially in osteoblasts and osteocytes, and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported.",,"(ARHR1) DMP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1758"">1758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23328"">K23328</a>]
 (ARHR2) ENPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5167"">5167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01513"">K01513</a>]",,,,,,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562792"">C562792</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567647"">C567647</a>
 OMIM: <a href=""https://www.omim.org/entry/241520"">241520</a> <a href=""https://www.omim.org/entry/613312"">613312</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20924400"">20924400</a>
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrneph.2010.121"">10.1038/nrneph.2010.121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033621"">17033621</a>
 著者        Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE
 タイトル      Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
 雑誌        Nat Genet 38:1310-5 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1905"">10.1038/ng1905</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20137772"">20137772</a>
 著者        Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
 タイトル      Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
 雑誌        Am J Hum Genet 86:273-8 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.01.010"">10.1016/j.ajhg.2010.01.010</a>"
H02140,"Boucher-Neuhauser 症候群
 上位グループ    PNPLA6 関連疾患 [DS:H01898]",,,"Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in the PNPLA6 gene.",神経系疾患,,PNPLA6 [HSA:10908] [KO:K14676],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: 215470","PMID:5806782
 著者        Boucher BJ, Gibberd FB
 タイトル      Familial ataxia, hypogonadism and retinal degeneration.
 雑誌        Acta Neurol Scand 45:507-10 (1969)
 DOI:10.1111/j.1600-0404.1969.tb01261.x
 PMID:1149314
 著者        Neuhauser G, Opitz JM
 タイトル      Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
 雑誌        Clin Genet 7:426-34 (1975)
 DOI:10.1111/j.1399-0004.1975.tb00353.x
 PMID:25359264
 著者        Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M
 タイトル      Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the  literature.
 雑誌        J Neurol 262:194-202 (2015)
 DOI:10.1007/s00415-014-7555-9
 PMID:25267340
 著者        Deik A, Johannes B, Rucker JC, Sanchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisan-Ruiz C
 タイトル      Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia.
 雑誌        J Neurol 261:2411-23 (2014)
 DOI:10.1007/s00415-014-7516-3
 PMID:24355708
 著者        Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S
 タイトル      PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
 雑誌        Brain 137:69-77 (2014)
 DOI:10.1093/brain/awt326
 PMID:25033069
 著者        Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR
 タイトル      Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
 雑誌        J Clin Endocrinol Metab 99:E2067-75 (2014)
 DOI:10.1210/jc.2014-1836","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02140"">H02140</a>","Boucher-Neuhauser 症候群
 上位グループ    PNPLA6 関連疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01898"">H01898</a>]","Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in the PNPLA6 gene.",,"PNPLA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10908"">10908</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14676"">K14676</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: <a href=""https://www.omim.org/entry/215470"">215470</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5806782"">5806782</a>
 著者        Boucher BJ, Gibberd FB
 タイトル      Familial ataxia, hypogonadism and retinal degeneration.
 雑誌        Acta Neurol Scand 45:507-10 (1969)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0404.1969.tb01261.x"">10.1111/j.1600-0404.1969.tb01261.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1149314"">1149314</a>
 著者        Neuhauser G, Opitz JM
 タイトル      Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
 雑誌        Clin Genet 7:426-34 (1975)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1975.tb00353.x"">10.1111/j.1399-0004.1975.tb00353.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25359264"">25359264</a>
 著者        Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M
 タイトル      Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the  literature.
 雑誌        J Neurol 262:194-202 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00415-014-7555-9"">10.1007/s00415-014-7555-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25267340"">25267340</a>
 著者        Deik A, Johannes B, Rucker JC, Sanchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisan-Ruiz C
 タイトル      Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia.
 雑誌        J Neurol 261:2411-23 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00415-014-7516-3"">10.1007/s00415-014-7516-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24355708"">24355708</a>
 著者        Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S
 タイトル      PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
 雑誌        Brain 137:69-77 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt326"">10.1093/brain/awt326</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25033069"">25033069</a>
 著者        Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR
 タイトル      Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
 雑誌        J Clin Endocrinol Metab 99:E2067-75 (2014)
 DOI:<a href=""https://doi.org/10.1210/jc.2014-1836"">10.1210/jc.2014-1836</a>"
H02141,"常染色体優性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:H00214]",,,"Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.",先天性代謝異常症,,FGF23 [HSA:8074] [KO:K22428],,,,ブロスマブ [DR:D10913],,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: C562791
 OMIM: 193100","PMID:20924400
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:10.1038/nrneph.2010.121
 PMID:11062477
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:10.1038/81664","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02141"">H02141</a>","常染色体優性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>]","Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.",,"FGF23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8074"">8074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22428"">K22428</a>]",,,,"ブロスマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10913"">D10913</a>]",,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562791"">C562791</a>
 OMIM: <a href=""https://www.omim.org/entry/193100"">193100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20924400"">20924400</a>
 著者        Alizadeh Naderi AS, Reilly RF
 タイトル      Hereditary disorders of renal phosphate wasting.
 雑誌        Nat Rev Nephrol 6:657-65 (2010)
 DOI:<a href=""https://doi.org/10.1038/nrneph.2010.121"">10.1038/nrneph.2010.121</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11062477"">11062477</a>
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/81664"">10.1038/81664</a>"
H02142,"X 連鎖劣性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:H00214]
 X 連鎖性高カルシウム尿腎結石症 [DS:H02149]",,,"X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for phosphate reabsorption. But a number of features were atypical of X-linked dominant hypophosphatemic rickets. For example, they have hypercalciuria, and high levels of 1,25- dihydroxyvitamin D. Mutations in the CLCN5 gene have been reported to be associated with XLRH.",泌尿器系疾患; 先天性代謝異常症,,CLCN5 [HSA:1184] [KO:K05012],,,,,,"ICD-11: 5C63.22
 ICD-10: N25.8
 MeSH: D053098
 OMIM: 300554","PMID:9187673
 著者        Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A
 タイトル      A second family with XLRH displays the mutation S244L in the CLCN5 gene.
 雑誌        Hum Genet 99:781-4 (1997)
 DOI:10.1007/s004390050554
 PMID:9452994
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:10.1046/j.1523-1755.1998.00718.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02142"">H02142</a>","X 連鎖劣性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>]
 X 連鎖性高カルシウム尿腎結石症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02149"">H02149</a>]","X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for phosphate reabsorption. But a number of features were atypical of X-linked dominant hypophosphatemic rickets. For example, they have hypercalciuria, and high levels of 1,25- dihydroxyvitamin D. Mutations in the CLCN5 gene have been reported to be associated with XLRH.",,"CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]",,,,,,"ICD-11: 5C63.22
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053098"">D053098</a>
 OMIM: <a href=""https://www.omim.org/entry/300554"">300554</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9187673"">9187673</a>
 著者        Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A
 タイトル      A second family with XLRH displays the mutation S244L in the CLCN5 gene.
 雑誌        Hum Genet 99:781-4 (1997)
 DOI:<a href=""https://doi.org/10.1007/s004390050554"">10.1007/s004390050554</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9452994"">9452994</a>
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.1998.00718.x"">10.1046/j.1523-1755.1998.00718.x</a>"
H02143,"X 連鎖優性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:H00214]",,,"X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia, and by abnormal 1,25-dihydroxy vitamin D. Manifestations of XLH include rickets in children, short stature, and osteomalacia. Mutations in the PHEX gene have been identified as the cause of XlH. PHEX encodes a metalloprotease that is found in the cell-surface membrane of osteoblasts, osteocytes, and odontoblasts.",先天性代謝異常症,,PHEX [HSA:5251] [KO:K08636],,,,,,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: D053098
 OMIM: 307800","PMID:9106524
 著者        Holm IA, Huang X, Kunkel LM
 タイトル      Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
 雑誌        Am J Hum Genet 60:790-7 (1997)
 PMID:11004247
 著者        Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K
 タイトル      Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
 雑誌        Pediatr Res 48:536-40 (2000)
 DOI:10.1203/00006450-200010000-00019
 PMID:11062477
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:10.1038/81664","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02143"">H02143</a>","X 連鎖優性低リン血症性くる病
 上位グループ    低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00214"">H00214</a>]","X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia, and by abnormal 1,25-dihydroxy vitamin D. Manifestations of XLH include rickets in children, short stature, and osteomalacia. Mutations in the PHEX gene have been identified as the cause of XlH. PHEX encodes a metalloprotease that is found in the cell-surface membrane of osteoblasts, osteocytes, and odontoblasts.",,"PHEX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5251"">5251</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08636"">K08636</a>]",,,,,,"ICD-11: 5C63.22
 ICD-10: E83.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D053098"">D053098</a>
 OMIM: <a href=""https://www.omim.org/entry/307800"">307800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9106524"">9106524</a>
 著者        Holm IA, Huang X, Kunkel LM
 タイトル      Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
 雑誌        Am J Hum Genet 60:790-7 (1997)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11004247"">11004247</a>
 著者        Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K
 タイトル      Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
 雑誌        Pediatr Res 48:536-40 (2000)
 DOI:<a href=""https://doi.org/10.1203/00006450-200010000-00019"">10.1203/00006450-200010000-00019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11062477"">11062477</a>
 タイトル      Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
 雑誌        Nat Genet 26:345-8 (2000)
 DOI:<a href=""https://doi.org/10.1038/81664"">10.1038/81664</a>"
H02144,Gordon Holmes 症候群,,,"Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.",神経系疾患,,RNF216 [HSA:54476] [KO:K11976],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: 212840","PMID:27995769
 著者        Husain N, Yuan Q, Yen YC, Pletnikova O, Sally DQ, Worley P, Bichler Z, Shawn Je H
 タイトル      TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
 雑誌        Aging Cell 16:281-292 (2017)
 DOI:10.1111/acel.12551
 PMID:28972031
 著者        Mehmood S, Hoggard N, Hadjivassiliou M
 タイトル      Gordon Holmes syndrome: finally genotype meets phenotype.
 雑誌        Pract Neurol 17:476-478 (2017)
 DOI:10.1136/practneurol-2017-001674
 PMID:23656588
 著者        Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
 タイトル      Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
 雑誌        N Engl J Med 368:1992-2003 (2013)
 DOI:10.1056/NEJMoa1215993
 PMID:25841028
 著者        Santens P, Van Damme T, Steyaert W, Willaert A, Sablonniere B, De Paepe A, Coucke PJ, Dermaut B
 タイトル      RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
 雑誌        Neurology 84:1760-6 (2015)
 DOI:10.1212/WNL.0000000000001521","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02144"">H02144</a>",Gordon Holmes 症候群,"Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.",,"RNF216 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54476"">54476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11976"">K11976</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: <a href=""https://www.omim.org/entry/212840"">212840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27995769"">27995769</a>
 著者        Husain N, Yuan Q, Yen YC, Pletnikova O, Sally DQ, Worley P, Bichler Z, Shawn Je H
 タイトル      TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
 雑誌        Aging Cell 16:281-292 (2017)
 DOI:<a href=""https://doi.org/10.1111/acel.12551"">10.1111/acel.12551</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28972031"">28972031</a>
 著者        Mehmood S, Hoggard N, Hadjivassiliou M
 タイトル      Gordon Holmes syndrome: finally genotype meets phenotype.
 雑誌        Pract Neurol 17:476-478 (2017)
 DOI:<a href=""https://doi.org/10.1136/practneurol-2017-001674"">10.1136/practneurol-2017-001674</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23656588"">23656588</a>
 著者        Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
 タイトル      Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
 雑誌        N Engl J Med 368:1992-2003 (2013)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1215993"">10.1056/NEJMoa1215993</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25841028"">25841028</a>
 著者        Santens P, Van Damme T, Steyaert W, Willaert A, Sablonniere B, De Paepe A, Coucke PJ, Dermaut B
 タイトル      RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
 雑誌        Neurology 84:1760-6 (2015)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000001521"">10.1212/WNL.0000000000001521</a>"
H02145,"シュウ酸カルシウム腎結石症;
 シュウ酸カルシウム尿路結石症",,,"Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis is genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis.",泌尿器系疾患,,SLC26A1 [HSA:10861] [KO:K14700],,,,,,"ICD-11: GB70
 ICD-10: N20.2
 MeSH: C563477
 OMIM: 167030","PMID:27210743
 著者        Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F
 タイトル      Mutations in SLC26A1 Cause Nephrolithiasis.
 雑誌        Am J Hum Genet 98:1228-1234 (2016)
 DOI:10.1016/j.ajhg.2016.03.026
 PMID:24250268
 著者        Dawson PA, Sim P, Mudge DW, Cowley D
 タイトル      Human SLC26A1 gene variants: a pilot study.
 雑誌        ScientificWorldJournal 2013:541710 (2013)
 DOI:10.1155/2013/541710","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02145"">H02145</a>","シュウ酸カルシウム腎結石症;
 シュウ酸カルシウム尿路結石症","Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis is genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis.",,"SLC26A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10861"">10861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14700"">K14700</a>]",,,,,,"ICD-11: GB70
 ICD-10: N20.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563477"">C563477</a>
 OMIM: <a href=""https://www.omim.org/entry/167030"">167030</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27210743"">27210743</a>
 著者        Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F
 タイトル      Mutations in SLC26A1 Cause Nephrolithiasis.
 雑誌        Am J Hum Genet 98:1228-1234 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.026"">10.1016/j.ajhg.2016.03.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24250268"">24250268</a>
 著者        Dawson PA, Sim P, Mudge DW, Cowley D
 タイトル      Human SLC26A1 gene variants: a pilot study.
 雑誌        ScientificWorldJournal 2013:541710 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/541710"">10.1155/2013/541710</a>"
H02146,"Glass 症候群;
 2q32-q33 欠失症候群",,,"Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.",染色体異常,,SATB2 [HSA:23314] [KO:K23226],,,,,,"ICD-11: LD44.20
 ICD-10: Q93.5
 OMIM: 612313","PMID:2918541
 著者        Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E
 タイトル      Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
 雑誌        J Med Genet 26:127-30 (1989)
 DOI:10.1136/jmg.26.2.127
 PMID:27774744
 著者        Zarate YA, Fish JL
 タイトル      SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
 雑誌        Am J Med Genet A 173:327-337 (2017)
 DOI:10.1002/ajmg.a.38022
 PMID:19576302
 著者        Urquhart J, Black GC, Clayton-Smith J
 タイトル      4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
 雑誌        Eur J Med Genet 52:454-7 (2009)
 DOI:10.1016/j.ejmg.2009.06.003
 PMID:24363063
 著者        Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR
 タイトル      Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
 雑誌        Hum Mol Genet 23:2569-79 (2014)
 DOI:10.1093/hmg/ddt647
 PMID:17377962
 著者        Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V
 タイトル      Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
 雑誌        Hum Mutat 28:732-8 (2007)
 DOI:10.1002/humu.20515","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02146"">H02146</a>","Glass 症候群;
 2q32-q33 欠失症候群","Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.",,"SATB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23314"">23314</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23226"">K23226</a>]",,,,,,"ICD-11: LD44.20
 ICD-10: Q93.5
 OMIM: <a href=""https://www.omim.org/entry/612313"">612313</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2918541"">2918541</a>
 著者        Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E
 タイトル      Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
 雑誌        J Med Genet 26:127-30 (1989)
 DOI:<a href=""https://doi.org/10.1136/jmg.26.2.127"">10.1136/jmg.26.2.127</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27774744"">27774744</a>
 著者        Zarate YA, Fish JL
 タイトル      SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
 雑誌        Am J Med Genet A 173:327-337 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38022"">10.1002/ajmg.a.38022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19576302"">19576302</a>
 著者        Urquhart J, Black GC, Clayton-Smith J
 タイトル      4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
 雑誌        Eur J Med Genet 52:454-7 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2009.06.003"">10.1016/j.ejmg.2009.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24363063"">24363063</a>
 著者        Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR
 タイトル      Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
 雑誌        Hum Mol Genet 23:2569-79 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt647"">10.1093/hmg/ddt647</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17377962"">17377962</a>
 著者        Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V
 タイトル      Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
 雑誌        Hum Mutat 28:732-8 (2007)
 DOI:<a href=""https://doi.org/10.1002/humu.20515"">10.1002/humu.20515</a>"
H02147,"腎不全を伴う X 連鎖性劣性腎結石症
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:H02149]",,,"X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, CLCN5.",泌尿器系疾患,,CLCN5 [HSA:1184] [KO:K05012],,,,,,"ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: C562901
 OMIM: 310468","PMID:9452994
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:10.1046/j.1523-1755.1998.00718.x
 PMID:9602200
 著者        Schurman SJ, Norden AG, Scheinman SJ
 タイトル      X-linked recessive nephrolithiasis: presentation and diagnosis in children.
 雑誌        J Pediatr 132:859-62 (1998)
 DOI:10.1016/S0022-3476(98)70318-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02147"">H02147</a>","腎不全を伴う X 連鎖性劣性腎結石症
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02149"">H02149</a>]","X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, CLCN5.",,"CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]",,,,,,"ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562901"">C562901</a>
 OMIM: <a href=""https://www.omim.org/entry/310468"">310468</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9452994"">9452994</a>
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.1998.00718.x"">10.1046/j.1523-1755.1998.00718.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9602200"">9602200</a>
 著者        Schurman SJ, Norden AG, Scheinman SJ
 タイトル      X-linked recessive nephrolithiasis: presentation and diagnosis in children.
 雑誌        J Pediatr 132:859-62 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0022-3476(98)70318-X"">10.1016/S0022-3476(98)70318-X</a>"
H02148,"高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:H02149]",,,"Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities to Dent disease. However, patients do not suffer from rickets or renal failure. Mutations of a renal chloride channel gene, CLCN5, have been reported.",泌尿器系疾患,,CLCN5 [HSA:1184] [KO:K05012],,,,,,"ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: C545036
 OMIM: 308990","PMID:9452994
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:10.1046/j.1523-1755.1998.00718.x
 PMID:9062355
 著者        Lloyd SE, Pearce SH, Gunther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV
 タイトル      Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
 雑誌        J Clin Invest 99:967-74 (1997)
 DOI:10.1172/JCI119262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02148"">H02148</a>","高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿
 上位グループ    X 連鎖性高カルシウム尿腎結石症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02149"">H02149</a>]","Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities to Dent disease. However, patients do not suffer from rickets or renal failure. Mutations of a renal chloride channel gene, CLCN5, have been reported.",,"CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]",,,,,,"ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C545036"">C545036</a>
 OMIM: <a href=""https://www.omim.org/entry/308990"">308990</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9452994"">9452994</a>
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.1998.00718.x"">10.1046/j.1523-1755.1998.00718.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9062355"">9062355</a>
 著者        Lloyd SE, Pearce SH, Gunther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV
 タイトル      Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
 雑誌        J Clin Invest 99:967-74 (1997)
 DOI:<a href=""https://doi.org/10.1172/JCI119262"">10.1172/JCI119262</a>"
H02149,"X 連鎖性高カルシウム尿腎結石症
 下位グループ    腎不全を伴う X 連鎖性劣性腎結石症 [DS:H02147]
 デント病 [DS:H00694]
 X 連鎖劣性低リン血症性くる病 [DS:H02142]
 高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿 [DS:H02148]",,,"X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis. These syndromes differ in degree from each other, but common themes include proximal tubular reabsorptive failure, nephrolithiasis, nephrocalcinosis, progressive renal insufficiency, and in some cases rickets. They were reported independently, but mutations in the chloride channel gene CLCN5 have been identified in all four syndromes.",泌尿器系疾患,,CLCN5 [HSA:1184] [KO:K05012],,,,,"Some have considered these disorders as phenotypic variants of a single disease, referred to as the Dent disease.","ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: D057973
 OMIM: 310468 300009 300554 308990","PMID:9452994
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:10.1046/j.1523-1755.1998.00718.x
 PMID:15558518
 著者        Gambaro G, Vezzoli G, Casari G, Rampoldi L, D'Angelo A, Borghi L
 タイトル      Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.
 雑誌        Am J Kidney Dis 44:963-86 (2004)
 DOI:10.1053/j.ajkd.2004.06.030","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02149"">H02149</a>","X 連鎖性高カルシウム尿腎結石症
 下位グループ    腎不全を伴う X 連鎖性劣性腎結石症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02147"">H02147</a>]
 デント病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00694"">H00694</a>]
 X 連鎖劣性低リン血症性くる病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02142"">H02142</a>]
 高カルシウム尿症と腎石灰化症を伴う低分子蛋白尿 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02148"">H02148</a>]","X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis. These syndromes differ in degree from each other, but common themes include proximal tubular reabsorptive failure, nephrolithiasis, nephrocalcinosis, progressive renal insufficiency, and in some cases rickets. They were reported independently, but mutations in the chloride channel gene CLCN5 have been identified in all four syndromes.",,"CLCN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1184"">1184</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]",,,,,"Some have considered these disorders as phenotypic variants of a single disease, referred to as the Dent disease.","ICD-11: GB90.4Y
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D057973"">D057973</a>
 OMIM: <a href=""https://www.omim.org/entry/310468"">310468</a> <a href=""https://www.omim.org/entry/300009"">300009</a> <a href=""https://www.omim.org/entry/300554"">300554</a> <a href=""https://www.omim.org/entry/308990"">308990</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9452994"">9452994</a>
 著者        Scheinman SJ
 タイトル      X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
 雑誌        Kidney Int 53:3-17 (1998)
 DOI:<a href=""https://doi.org/10.1046/j.1523-1755.1998.00718.x"">10.1046/j.1523-1755.1998.00718.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15558518"">15558518</a>
 著者        Gambaro G, Vezzoli G, Casari G, Rampoldi L, D'Angelo A, Borghi L
 タイトル      Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.
 雑誌        Am J Kidney Dis 44:963-86 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.ajkd.2004.06.030"">10.1053/j.ajkd.2004.06.030</a>"
H02150,乳児または幼児てんかん性脳症,,,"Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de novo mutation in PPP3CA. PPP3CA encodes a subunit of calcineurin, a key regulator of synaptic vesicle recycling at nerve terminals. Recently, IECEE caused by mutations in the GABRB2 gene and ATP6V1A gene has also been reported.",神経系疾患,,"(IECEE1) PPP3CA [HSA:5530] [KO:K04348]
 (IECEE2) GABRB2 [HSA:2561] [KO:K05181]
 (IECEE3) ATP6V1A [HSA:523] [KO:K02145]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.3
 OMIM: 617711 617829 618012","PMID:28942967
 著者        Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
 タイトル      De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
 雑誌        Am J Hum Genet 101:516-524 (2017)
 DOI:10.1016/j.ajhg.2017.08.013
 PMID:27789573
 著者        Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S
 タイトル      A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
 雑誌        J Med Genet 54:202-211 (2017)
 DOI:10.1136/jmedgenet-2016-104083
 PMID:29668857
 著者        Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
 タイトル      De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
 雑誌        Brain 141:1703-1718 (2018)
 DOI:10.1093/brain/awy092","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02150"">H02150</a>",乳児または幼児てんかん性脳症,"Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de novo mutation in PPP3CA. PPP3CA encodes a subunit of calcineurin, a key regulator of synaptic vesicle recycling at nerve terminals. Recently, IECEE caused by mutations in the GABRB2 gene and ATP6V1A gene has also been reported.",,"(IECEE1) PPP3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5530"">5530</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04348"">K04348</a>]
 (IECEE2) GABRB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2561"">2561</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05181"">K05181</a>]
 (IECEE3) ATP6V1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:523"">523</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02145"">K02145</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.3
 OMIM: <a href=""https://www.omim.org/entry/617711"">617711</a> <a href=""https://www.omim.org/entry/617829"">617829</a> <a href=""https://www.omim.org/entry/618012"">618012</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28942967"">28942967</a>
 著者        Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
 タイトル      De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
 雑誌        Am J Hum Genet 101:516-524 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.013"">10.1016/j.ajhg.2017.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27789573"">27789573</a>
 著者        Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S
 タイトル      A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
 雑誌        J Med Genet 54:202-211 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104083"">10.1136/jmedgenet-2016-104083</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29668857"">29668857</a>
 著者        Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
 タイトル      De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
 雑誌        Brain 141:1703-1718 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy092"">10.1093/brain/awy092</a>"
H02151,先天性顔面神経麻痺,,,"Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Genetic heterogeneity for this disorder has been suggested. The only known causative gene for HCFP is HOXB1.",先天奇形,,(HCFP3) HOXB1 [HSA:3211] [KO:K09301],,,,,,"ICD-11: 9C82.2
 ICD-10: Q87.0
 MeSH: D005158
 OMIM: 601471 614744","PMID:16912702
 著者        Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW
 タイトル      Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
 雑誌        Eur J Hum Genet 14:1306-12 (2006)
 DOI:10.1038/sj.ejhg.5201706
 PMID:27144914
 著者        Vogel M, Velleuer E, Schmidt-Jimenez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortum F
 タイトル      Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
 雑誌        Am J Med Genet A 170:1813-9 (2016)
 DOI:10.1002/ajmg.a.37682","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02151"">H02151</a>",先天性顔面神経麻痺,"Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Genetic heterogeneity for this disorder has been suggested. The only known causative gene for HCFP is HOXB1.",,"(HCFP3) HOXB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3211"">3211</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09301"">K09301</a>]",,,,,,"ICD-11: 9C82.2
 ICD-10: Q87.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005158"">D005158</a>
 OMIM: <a href=""https://www.omim.org/entry/601471"">601471</a> <a href=""https://www.omim.org/entry/614744"">614744</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16912702"">16912702</a>
 著者        Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW
 タイトル      Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
 雑誌        Eur J Hum Genet 14:1306-12 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201706"">10.1038/sj.ejhg.5201706</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27144914"">27144914</a>
 著者        Vogel M, Velleuer E, Schmidt-Jimenez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortum F
 タイトル      Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
 雑誌        Am J Med Genet A 170:1813-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37682"">10.1002/ajmg.a.37682</a>"
H02152,"一過性家族性新生児高ビリルビン血症;
 Lucey-Driscoll 症候群
 上位グループ    高ビリルビン血症 [DS:H00208]",,,"Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has been suggested that mutations in UGT1A1 cause this disease.",先天性代謝異常症,,UGT1A1 [HSA:54658] [KO:K00699],,,,,,"ICD-11: KA87.Y
 ICD-10: P59.8
 MeSH: C562692
 OMIM: 237900","PMID:14332157
 著者        ARIAS IM, WOLFSON S, LUCEY JF, MCKAY RJ Jr
 タイトル      TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA.
 雑誌        J Clin Invest 44:1442-50 (1965)
 DOI:10.1172/JCI105250
 PMID:11061796
 著者        Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M
 タイトル      Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
 雑誌        Pediatrics 106:E59 (2000)
 DOI:10.1542/peds.106.5.e59
 PMID:26595536
 著者        Memon N, Weinberger BI, Hegyi T, Aleksunes LM
 タイトル      Inherited disorders of bilirubin clearance.
 雑誌        Pediatr Res 79:378-86 (2016)
 DOI:10.1038/pr.2015.247","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02152"">H02152</a>","一過性家族性新生児高ビリルビン血症;
 Lucey-Driscoll 症候群
 上位グループ    高ビリルビン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00208"">H00208</a>]","Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has been suggested that mutations in UGT1A1 cause this disease.",,"UGT1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54658"">54658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00699"">K00699</a>]",,,,,,"ICD-11: KA87.Y
 ICD-10: P59.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562692"">C562692</a>
 OMIM: <a href=""https://www.omim.org/entry/237900"">237900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14332157"">14332157</a>
 著者        ARIAS IM, WOLFSON S, LUCEY JF, MCKAY RJ Jr
 タイトル      TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA.
 雑誌        J Clin Invest 44:1442-50 (1965)
 DOI:<a href=""https://doi.org/10.1172/JCI105250"">10.1172/JCI105250</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11061796"">11061796</a>
 著者        Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M
 タイトル      Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
 雑誌        Pediatrics 106:E59 (2000)
 DOI:<a href=""https://doi.org/10.1542/peds.106.5.e59"">10.1542/peds.106.5.e59</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26595536"">26595536</a>
 著者        Memon N, Weinberger BI, Hegyi T, Aleksunes LM
 タイトル      Inherited disorders of bilirubin clearance.
 雑誌        Pediatr Res 79:378-86 (2016)
 DOI:<a href=""https://doi.org/10.1038/pr.2015.247"">10.1038/pr.2015.247</a>"
H02153,"巨頭症-毛細血管奇形症候群;
 MCAP 症候群",,,"Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia. Mutations in PIK3CA have been reported in MCAP patients.",先天奇形,,PIK3CA [HSA:5290] [KO:K00922],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C536142
 OMIM: 602501","PMID:22228622
 著者        Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB
 タイトル      Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
 雑誌        Am J Med Genet A 158A:269-91 (2012)
 DOI:10.1002/ajmg.a.34402
 PMID:22729224
 著者        Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
 タイトル      De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
 雑誌        Nat Genet 44:934-40 (2012)
 DOI:10.1038/ng.2331","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02153"">H02153</a>","巨頭症-毛細血管奇形症候群;
 MCAP 症候群","Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia. Mutations in PIK3CA have been reported in MCAP patients.",,"PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536142"">C536142</a>
 OMIM: <a href=""https://www.omim.org/entry/602501"">602501</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22228622"">22228622</a>
 著者        Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB
 タイトル      Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
 雑誌        Am J Med Genet A 158A:269-91 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34402"">10.1002/ajmg.a.34402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22729224"">22729224</a>
 著者        Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
 タイトル      De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
 雑誌        Nat Genet 44:934-40 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2331"">10.1038/ng.2331</a>"
H02154,"上腕骨異形成症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:H00493]",,,"Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.",先天奇形,,"(OMOD1) GPC6 [HSA:10082] [KO:K08112]
 (OMOD2) FZD2 [HSA:2535] [KO:K02235]",,,,,,"ICD-11: LD24.A
 ICD-10: Q78.8
 MeSH: C537746
 OMIM: 258315 164745","PMID:19481194
 著者        Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
 タイトル      Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
 雑誌        Am J Hum Genet 84:760-70 (2009)
 DOI:10.1016/j.ajhg.2009.05.002
 PMID:25759469
 著者        Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW
 タイトル      A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
 雑誌        Hum Mol Genet 24:3399-409 (2015)
 DOI:10.1093/hmg/ddv088","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02154"">H02154</a>","上腕骨異形成症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.",,"(OMOD1) GPC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10082"">10082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08112"">K08112</a>]
 (OMOD2) FZD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2535"">2535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02235"">K02235</a>]",,,,,,"ICD-11: LD24.A
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537746"">C537746</a>
 OMIM: <a href=""https://www.omim.org/entry/258315"">258315</a> <a href=""https://www.omim.org/entry/164745"">164745</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19481194"">19481194</a>
 著者        Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
 タイトル      Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
 雑誌        Am J Hum Genet 84:760-70 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.05.002"">10.1016/j.ajhg.2009.05.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25759469"">25759469</a>
 著者        Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW
 タイトル      A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
 雑誌        Hum Mol Genet 24:3399-409 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv088"">10.1093/hmg/ddv088</a>"
H02155,"分節異常骨異形成症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:H00493]",,,"The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois type. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. DDSH is caused by a functional null mutation of perlecan gene (HSPG2).",先天奇形,,HSPG2 [HSA:3339] [KO:K06255],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C537998 C537999
 OMIM: 224410","PMID:11279527
 著者        Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y
 タイトル      Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
 雑誌        Nat Genet 27:431-4 (2001)
 DOI:10.1038/86941","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02155"">H02155</a>","分節異常骨異形成症
 上位グループ    ヘパラン硫酸プロテオグリカン異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00493"">H00493</a>]","The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois type. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. DDSH is caused by a functional null mutation of perlecan gene (HSPG2).",,"HSPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3339"">3339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06255"">K06255</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537998"">C537998</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537999"">C537999</a>
 OMIM: <a href=""https://www.omim.org/entry/224410"">224410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11279527"">11279527</a>
 著者        Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y
 タイトル      Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
 雑誌        Nat Genet 27:431-4 (2001)
 DOI:<a href=""https://doi.org/10.1038/86941"">10.1038/86941</a>"
H02156,"Lamb-Shaffer 症候群;
 12p12.1 microdeletion 症候群",,,"Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.",染色体異常,,SOX5 [HSA:6660] [KO:K09269],,,,,,"ICD-11: LD44.C1
 ICD-10: Q93.5
 MeSH: D065886
 OMIM: 616803","PMID:22290657
 著者        Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG
 タイトル      Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
 雑誌        Hum Mutat 33:728-40 (2012)
 DOI:10.1002/humu.22037
 PMID:29477873
 著者        Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N
 タイトル      Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
 雑誌        Gene 655:65-70 (2018)
 DOI:10.1016/j.gene.2018.02.049
 PMID:26111154
 著者        Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A
 タイトル      Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
 雑誌        Am J Med Genet A 167A:2548-54 (2015)
 DOI:10.1002/ajmg.a.37221","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02156"">H02156</a>","Lamb-Shaffer 症候群;
 12p12.1 microdeletion 症候群","Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.",,"SOX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6660"">6660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09269"">K09269</a>]",,,,,,"ICD-11: LD44.C1
 ICD-10: Q93.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065886"">D065886</a>
 OMIM: <a href=""https://www.omim.org/entry/616803"">616803</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22290657"">22290657</a>
 著者        Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG
 タイトル      Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
 雑誌        Hum Mutat 33:728-40 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22037"">10.1002/humu.22037</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29477873"">29477873</a>
 著者        Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N
 タイトル      Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
 雑誌        Gene 655:65-70 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2018.02.049"">10.1016/j.gene.2018.02.049</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26111154"">26111154</a>
 著者        Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A
 タイトル      Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
 雑誌        Am J Med Genet A 167A:2548-54 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37221"">10.1002/ajmg.a.37221</a>"
H02157,"短肋骨胸郭異形成症
 下位グループ    窒息性胸郭ジストロフィー [DS:H00751]
 短肋骨多指症候群 [DS:H00511]",,,"Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development.",先天奇形,,"(SRTD2) IFT80 [HSA:57560] [KO:K19678]
 (SRTD3) DYNC2H1 [HSA:79659] [KO:K10414]
 (SRTD4) TTC21B [HSA:79809] [KO:K19673]
 (SRTD5) WDR19 [HSA:57728] [KO:K19671]
 (SRTD6) NEK1 [HSA:4750] [KO:K08857]
 (SRTD7) WDR35 [HSA:57539] [KO:K19674]
 (SRTD8) DYNC2I1 [HSA:55112] [KO:K22869]
 (SRTD9) IFT140 [HSA:9742] [KO:K19672]
 (SRTD10) IFT172 [HSA:26160] [KO:K19676]
 (SRTD11) DYNC2I2 [HSA:89891] [KO:K22868]
 (SRTD13) CEP120 [HSA:153241] [KO:K16459]
 (SRTD14) JBTS23 [HSA:9786] [KO:K22865]
 (SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417]
 (SRTD16) IFT52 [HSA:51098] [KO:K19681]
 (SRTD17) DYNLT2B [HSA:255758] [KO:K22866]
 (SRTD18) IFT43 [HSA:112752] [KO:K19675]
 (SRTD19) IFT81 [HSA:28981] [KO:K19677]
 (SRTD20) INTU [HSA:27152] [KO:K22862]
 (SRTD21) JBTS38 [HSA:9851] [KO:K21765]",,,,,,"ICD-11: LD24.BY
 ICD-10: Q77.2
 MeSH: D012779 C537599 C537571
 OMIM: 208500 611263 613091 613819 614376 263520 614091 613602 615503 266920 615630 615633 616300 616546 617088 617102 617405 617866 617895 617925 619479","PMID:22791528
 著者        Huber C, Cormier-Daire V
 タイトル      Ciliary disorder of the skeleton.
 雑誌        Am J Med Genet C Semin Med Genet 160C:165-74 (2012)
 DOI:10.1002/ajmg.c.31336
 PMID:17468754 (IFT80)
 著者        Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
 タイトル      IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
 雑誌        Nat Genet 39:727-9 (2007)
 DOI:10.1038/ng2038
 PMID:19442771 (DYNC2H1)
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:10.1016/j.ajhg.2009.04.016
 PMID:21258341 (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:10.1038/ng.756
 PMID:22019273 (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:10.1016/j.ajhg.2011.10.001
 PMID:21211617 (NEK1)
 著者        Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A
 タイトル      NEK1 mutations cause short-rib polydactyly syndrome type majewski.
 雑誌        Am J Hum Genet 88:106-14 (2011)
 DOI:10.1016/j.ajhg.2010.12.004
 PMID:21473986 (WDR35)
 著者        Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ
 タイトル      Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
 雑誌        Am J Hum Genet 88:508-15 (2011)
 DOI:10.1016/j.ajhg.2011.03.015
 PMID:23910462 (DYNC2I1)
 著者        McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C
 タイトル      Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
 雑誌        Am J Hum Genet 93:515-23 (2013)
 DOI:10.1016/j.ajhg.2013.06.022
 PMID:22503633 (IFT140)
 著者        Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM
 タイトル      Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
 雑誌        Am J Hum Genet 90:864-70 (2012)
 DOI:10.1016/j.ajhg.2012.03.006
 PMID:24140113 (IFT172)
 著者        Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschke P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabo AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F
 タイトル      Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
 雑誌        Am J Hum Genet 93:915-25 (2013)
 DOI:10.1016/j.ajhg.2013.09.012
 PMID:24183451 (DYNC2I2)
 著者        Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, Emes RD, Arts HH, Tuysuz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, Duncan EL, Mitchison HM
 タイトル      Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
 雑誌        Am J Hum Genet 93:932-44 (2013)
 DOI:10.1016/j.ajhg.2013.10.003
 PMID:25361962 (CEP120)
 著者        Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS
 タイトル      A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
 雑誌        Hum Mol Genet 24:1410-9 (2015)
 DOI:10.1093/hmg/ddu555
 PMID:26166481 (JBTS23)
 著者        Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S
 タイトル      Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
 雑誌        Am J Hum Genet 97:311-8 (2015)
 DOI:10.1016/j.ajhg.2015.06.003
 PMID:26077881 (DYNC2LI1)
 著者        Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D
 タイトル      Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
 雑誌        Nat Commun 6:7092 (2015)
 DOI:10.1038/ncomms8092
 PMID:26880018 (IFT52)
 著者        Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A
 タイトル      A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
 雑誌        Clin Genet 90:536-539 (2016)
 DOI:10.1111/cge.12762
 PMID:26044572 (DYNLT2B)
 著者        Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB
 タイトル      TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
 雑誌        Nat Commun 6:7074 (2015)
 DOI:10.1038/ncomms8074
 PMID:28400947 (IFT43)
 著者        Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
 雑誌        Cilia 6:7 (2017)
 DOI:10.1186/s13630-017-0051-y
 PMID:27666822 (IFT81)
 著者        Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
 雑誌        Sci Rep 6:34232 (2016)
 DOI:10.1038/srep34232
 PMID:27158779 (INTU)
 著者        Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB
 タイトル      The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
 雑誌        Nat Genet 48:648-56 (2016)
 DOI:10.1038/ng.3558
 PMID:29138412 (JBTS38)
 著者        Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S
 タイトル      Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
 雑誌        Sci Rep 7:15585 (2017)
 DOI:10.1038/s41598-017-15442-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02157"">H02157</a>","短肋骨胸郭異形成症
 下位グループ    窒息性胸郭ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00751"">H00751</a>]
 短肋骨多指症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00511"">H00511</a>]","Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development.",,"(SRTD2) IFT80 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57560"">57560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19678"">K19678</a>]
 (SRTD3) DYNC2H1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79659"">79659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10414"">K10414</a>]
 (SRTD4) TTC21B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79809"">79809</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19673"">K19673</a>]
 (SRTD5) WDR19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57728"">57728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19671"">K19671</a>]
 (SRTD6) NEK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4750"">4750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08857"">K08857</a>]
 (SRTD7) WDR35 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57539"">57539</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19674"">K19674</a>]
 (SRTD8) DYNC2I1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55112"">55112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22869"">K22869</a>]
 (SRTD9) IFT140 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9742"">9742</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19672"">K19672</a>]
 (SRTD10) IFT172 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26160"">26160</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19676"">K19676</a>]
 (SRTD11) DYNC2I2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89891"">89891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22868"">K22868</a>]
 (SRTD13) CEP120 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:153241"">153241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16459"">K16459</a>]
 (SRTD14) JBTS23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9786"">9786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22865"">K22865</a>]
 (SRTD15) DYNC2LI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51626"">51626</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10417"">K10417</a>]
 (SRTD16) IFT52 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51098"">51098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19681"">K19681</a>]
 (SRTD17) DYNLT2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:255758"">255758</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22866"">K22866</a>]
 (SRTD18) IFT43 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112752"">112752</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19675"">K19675</a>]
 (SRTD19) IFT81 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28981"">28981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19677"">K19677</a>]
 (SRTD20) INTU [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27152"">27152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22862"">K22862</a>]
 (SRTD21) JBTS38 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9851"">9851</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21765"">K21765</a>]",,,,,,"ICD-11: LD24.BY
 ICD-10: Q77.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012779"">D012779</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537599"">C537599</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537571"">C537571</a>
 OMIM: <a href=""https://www.omim.org/entry/208500"">208500</a> <a href=""https://www.omim.org/entry/611263"">611263</a> <a href=""https://www.omim.org/entry/613091"">613091</a> <a href=""https://www.omim.org/entry/613819"">613819</a> <a href=""https://www.omim.org/entry/614376"">614376</a> <a href=""https://www.omim.org/entry/263520"">263520</a> <a href=""https://www.omim.org/entry/614091"">614091</a> <a href=""https://www.omim.org/entry/613602"">613602</a> <a href=""https://www.omim.org/entry/615503"">615503</a> <a href=""https://www.omim.org/entry/266920"">266920</a> <a href=""https://www.omim.org/entry/615630"">615630</a> <a href=""https://www.omim.org/entry/615633"">615633</a> <a href=""https://www.omim.org/entry/616300"">616300</a> <a href=""https://www.omim.org/entry/616546"">616546</a> <a href=""https://www.omim.org/entry/617088"">617088</a> <a href=""https://www.omim.org/entry/617102"">617102</a> <a href=""https://www.omim.org/entry/617405"">617405</a> <a href=""https://www.omim.org/entry/617866"">617866</a> <a href=""https://www.omim.org/entry/617895"">617895</a> <a href=""https://www.omim.org/entry/617925"">617925</a> <a href=""https://www.omim.org/entry/619479"">619479</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22791528"">22791528</a>
 著者        Huber C, Cormier-Daire V
 タイトル      Ciliary disorder of the skeleton.
 雑誌        Am J Med Genet C Semin Med Genet 160C:165-74 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31336"">10.1002/ajmg.c.31336</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17468754"">17468754</a> (IFT80)
 著者        Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ
 タイトル      IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
 雑誌        Nat Genet 39:727-9 (2007)
 DOI:<a href=""https://doi.org/10.1038/ng2038"">10.1038/ng2038</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19442771"">19442771</a> (DYNC2H1)
 著者        Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
 雑誌        Am J Hum Genet 84:706-11 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.04.016"">10.1016/j.ajhg.2009.04.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21258341"">21258341</a> (TTC21B)
 著者        Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
 タイトル      TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
 雑誌        Nat Genet 43:189-96 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.756"">10.1038/ng.756</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22019273"">22019273</a> (WDR19)
 著者        Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH
 タイトル      Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.
 雑誌        Am J Hum Genet 89:634-43 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.10.001"">10.1016/j.ajhg.2011.10.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21211617"">21211617</a> (NEK1)
 著者        Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A
 タイトル      NEK1 mutations cause short-rib polydactyly syndrome type majewski.
 雑誌        Am J Hum Genet 88:106-14 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.004"">10.1016/j.ajhg.2010.12.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21473986"">21473986</a> (WDR35)
 著者        Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ
 タイトル      Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
 雑誌        Am J Hum Genet 88:508-15 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.03.015"">10.1016/j.ajhg.2011.03.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23910462"">23910462</a> (DYNC2I1)
 著者        McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C
 タイトル      Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
 雑誌        Am J Hum Genet 93:515-23 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.022"">10.1016/j.ajhg.2013.06.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22503633"">22503633</a> (IFT140)
 著者        Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM
 タイトル      Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
 雑誌        Am J Hum Genet 90:864-70 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.006"">10.1016/j.ajhg.2012.03.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24140113"">24140113</a> (IFT172)
 著者        Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschke P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabo AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F
 タイトル      Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
 雑誌        Am J Hum Genet 93:915-25 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.012"">10.1016/j.ajhg.2013.09.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24183451"">24183451</a> (DYNC2I2)
 著者        Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, Emes RD, Arts HH, Tuysuz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, Duncan EL, Mitchison HM
 タイトル      Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
 雑誌        Am J Hum Genet 93:932-44 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.003"">10.1016/j.ajhg.2013.10.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25361962"">25361962</a> (CEP120)
 著者        Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS
 タイトル      A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
 雑誌        Hum Mol Genet 24:1410-9 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu555"">10.1093/hmg/ddu555</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26166481"">26166481</a> (JBTS23)
 著者        Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S
 タイトル      Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
 雑誌        Am J Hum Genet 97:311-8 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.06.003"">10.1016/j.ajhg.2015.06.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26077881"">26077881</a> (DYNC2LI1)
 著者        Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D
 タイトル      Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
 雑誌        Nat Commun 6:7092 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms8092"">10.1038/ncomms8092</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26880018"">26880018</a> (IFT52)
 著者        Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A
 タイトル      A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
 雑誌        Clin Genet 90:536-539 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12762"">10.1111/cge.12762</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26044572"">26044572</a> (DYNLT2B)
 著者        Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB
 タイトル      TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
 雑誌        Nat Commun 6:7074 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms8074"">10.1038/ncomms8074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28400947"">28400947</a> (IFT43)
 著者        Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
 雑誌        Cilia 6:7 (2017)
 DOI:<a href=""https://doi.org/10.1186/s13630-017-0051-y"">10.1186/s13630-017-0051-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27666822"">27666822</a> (IFT81)
 著者        Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D
 タイトル      Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
 雑誌        Sci Rep 6:34232 (2016)
 DOI:<a href=""https://doi.org/10.1038/srep34232"">10.1038/srep34232</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27158779"">27158779</a> (INTU)
 著者        Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB
 タイトル      The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
 雑誌        Nat Genet 48:648-56 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3558"">10.1038/ng.3558</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29138412"">29138412</a> (JBTS38)
 著者        Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S
 タイトル      Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
 雑誌        Sci Rep 7:15585 (2017)
 DOI:<a href=""https://doi.org/10.1038/s41598-017-15442-1"">10.1038/s41598-017-15442-1</a>"
H02158,"Weyers 四肢顔面骨形成不全症;
 Curry-Hall 症候群
 上位グループ    四肢顔面骨形成不全症 [DS:H01376]",,,"Weyers acrofacial dysostosis, also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.",先天奇形,,"EVC1 [HSA:2121] [KO:K19605]
 EVC2 [HSA:132884] [KO:K19608]",,,,,,"ICD-11: LD25.2
 ICD-10: Q75.4
 MeSH: C536695
 OMIM: 193530","PMID:9399901
 著者        Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW
 タイトル      Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
 雑誌        Am J Hum Genet 61:1405-12 (1997)
 DOI:10.1086/301643
 PMID:19876929
 著者        Ruiz-Perez VL, Goodship JA
 タイトル      Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
 雑誌        Am J Med Genet C Semin Med Genet 151C:341-51 (2009)
 DOI:10.1002/ajmg.c.30226
 PMID:23220543
 著者        D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A
 タイトル      Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
 雑誌        Eur J Med Genet 56:80-7 (2013)
 DOI:10.1016/j.ejmg.2012.11.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02158"">H02158</a>","Weyers 四肢顔面骨形成不全症;
 Curry-Hall 症候群
 上位グループ    四肢顔面骨形成不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01376"">H01376</a>]","Weyers acrofacial dysostosis, also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.",,"EVC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2121"">2121</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19605"">K19605</a>]
 EVC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:132884"">132884</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19608"">K19608</a>]",,,,,,"ICD-11: LD25.2
 ICD-10: Q75.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536695"">C536695</a>
 OMIM: <a href=""https://www.omim.org/entry/193530"">193530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9399901"">9399901</a>
 著者        Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW
 タイトル      Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
 雑誌        Am J Hum Genet 61:1405-12 (1997)
 DOI:<a href=""https://doi.org/10.1086/301643"">10.1086/301643</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19876929"">19876929</a>
 著者        Ruiz-Perez VL, Goodship JA
 タイトル      Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
 雑誌        Am J Med Genet C Semin Med Genet 151C:341-51 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30226"">10.1002/ajmg.c.30226</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23220543"">23220543</a>
 著者        D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A
 タイトル      Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
 雑誌        Eur J Med Genet 56:80-7 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2012.11.005"">10.1016/j.ejmg.2012.11.005</a>"
H02159,"家族性寒冷自己炎症症候群;
 家族性寒冷じんま疹
 上位グループ    クリオピリン関連周期熱症候群 [DS:H00282]",,,"Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.",免疫系疾患,,"(FCAS1) NALP3 [HSA:114548] [KO:K12800]
 (FCAS2) NALP12 [HSA:91662] [KO:K20865]
 (FCAS3) PLCG2 [HSA:5336] [KO:K05859]
 (FCAS4) NLRC4 [HSA:58484] [KO:K12805]",,,,カナキヌマブ [DR:D09315],,"ICD-11: 4A60.1
 ICD-10: L50.2
 MeSH: D056587 C567090
 OMIM: 120100 611762 614468 616115","PMID:11590390
 著者        Hoffman HM, Wanderer AA, Broide DH
 タイトル      Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
 雑誌        J Allergy Clin Immunol 108:615-20 (2001)
 DOI:10.1067/mai.2001.118790
 PMID:19910034
 著者        Gandhi C, Healy C, Wanderer AA, Hoffman HM
 タイトル      Familial atypical cold urticaria: description of a new hereditary disease.
 雑誌        J Allergy Clin Immunol 124:1245-50 (2009)
 DOI:10.1016/j.jaci.2009.09.035
 PMID:12522564 (FCAS1)
 著者        Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD
 タイトル      Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
 雑誌        Hum Genet 112:209-16 (2003)
 DOI:10.1007/s00439-002-0860-x
 PMID:21360512 (FCAS2)
 著者        Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasiglie D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M
 タイトル      Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
 雑誌        Arthritis Rheum 63:830-9 (2011)
 DOI:10.1002/art.30170
 PMID:25385754 (FCAS4)
 著者        Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K
 タイトル      An inherited mutation in NLRC4 causes autoinflammation in human and mice.
 雑誌        J Exp Med 211:2385-96 (2014)
 DOI:10.1084/jem.20141091
 PMID:22236196 (FCAS3)
 著者        Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD
 タイトル      Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
 雑誌        N Engl J Med 366:330-8 (2012)
 DOI:10.1056/NEJMoa1102140","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02159"">H02159</a>","家族性寒冷自己炎症症候群;
 家族性寒冷じんま疹
 上位グループ    クリオピリン関連周期熱症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00282"">H00282</a>]","Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.",,"(FCAS1) NALP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]
 (FCAS2) NALP12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91662"">91662</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20865"">K20865</a>]
 (FCAS3) PLCG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5336"">5336</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05859"">K05859</a>]
 (FCAS4) NLRC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58484"">58484</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12805"">K12805</a>]",,,,"カナキヌマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D09315"">D09315</a>]",,"ICD-11: 4A60.1
 ICD-10: L50.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056587"">D056587</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567090"">C567090</a>
 OMIM: <a href=""https://www.omim.org/entry/120100"">120100</a> <a href=""https://www.omim.org/entry/611762"">611762</a> <a href=""https://www.omim.org/entry/614468"">614468</a> <a href=""https://www.omim.org/entry/616115"">616115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11590390"">11590390</a>
 著者        Hoffman HM, Wanderer AA, Broide DH
 タイトル      Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
 雑誌        J Allergy Clin Immunol 108:615-20 (2001)
 DOI:<a href=""https://doi.org/10.1067/mai.2001.118790"">10.1067/mai.2001.118790</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19910034"">19910034</a>
 著者        Gandhi C, Healy C, Wanderer AA, Hoffman HM
 タイトル      Familial atypical cold urticaria: description of a new hereditary disease.
 雑誌        J Allergy Clin Immunol 124:1245-50 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2009.09.035"">10.1016/j.jaci.2009.09.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12522564"">12522564</a> (FCAS1)
 著者        Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD
 タイトル      Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
 雑誌        Hum Genet 112:209-16 (2003)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0860-x"">10.1007/s00439-002-0860-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21360512"">21360512</a> (FCAS2)
 著者        Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasiglie D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M
 タイトル      Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
 雑誌        Arthritis Rheum 63:830-9 (2011)
 DOI:<a href=""https://doi.org/10.1002/art.30170"">10.1002/art.30170</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25385754"">25385754</a> (FCAS4)
 著者        Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K
 タイトル      An inherited mutation in NLRC4 causes autoinflammation in human and mice.
 雑誌        J Exp Med 211:2385-96 (2014)
 DOI:<a href=""https://doi.org/10.1084/jem.20141091"">10.1084/jem.20141091</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22236196"">22236196</a> (FCAS3)
 著者        Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD
 タイトル      Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
 雑誌        N Engl J Med 366:330-8 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1102140"">10.1056/NEJMoa1102140</a>"
H02160,頭蓋縫合早期癒合症,,,Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.,先天奇形,,"(CRS1) TWIST1 [HSA:7291] [KO:K09069]
 (CRS2) MSX2 [HSA:4488] [KO:K09341]
 (CRS3) TCF12 [HSA:6938] [KO:K15603]
 (CRS4) ERF [HSA:2077] [KO:K09434]
 (CRS5) ALX4 [HSA:60529] [KO:K09451]
 (CRS6) ZIC1 [HSA:7545] [KO:K09224]
 (CRS7) SMAD6 [HSA:4091] [KO:K04677]",,,,,,"ICD-11: LB70.0
 ICD-10: Q75
 MeSH: D003398
 OMIM: 123100 604757 615314 600775 615529 616602 617439","PMID:21248745
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:10.1038/ejhg.2010.235
 PMID:23438589 (CRS1, CRS3, CRS4)
 著者        Fitzpatrick DR
 タイトル      Filling in the gaps in cranial suture biology.
 雑誌        Nat Genet 45:231-2 (2013)
 DOI:10.1038/ng.2557
 PMID:8106171 (CRS2)
 著者        Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al.
 タイトル      A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
 雑誌        Cell 75:443-50 (1993)
 DOI:10.1016/0092-8674(93)90379-5
 PMID:22829454 (CRS5)
 著者        Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA
 タイトル      ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
 雑誌        Hum Mutat 33:1626-9 (2012)
 DOI:10.1002/humu.22166
 PMID:26340333 (CRS6)
 著者        Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
 タイトル      Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
 雑誌        Am J Hum Genet 97:378-88 (2015)
 DOI:10.1016/j.ajhg.2015.07.007
 PMID:27606499 (CRS7)
 著者        Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP
 タイトル      Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
 雑誌        Elife 5:e20125 (2016)
 DOI:10.7554/eLife.20125","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02160"">H02160</a>",頭蓋縫合早期癒合症,Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.,,"(CRS1) TWIST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7291"">7291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09069"">K09069</a>]
 (CRS2) MSX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4488"">4488</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09341"">K09341</a>]
 (CRS3) TCF12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6938"">6938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15603"">K15603</a>]
 (CRS4) ERF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2077"">2077</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09434"">K09434</a>]
 (CRS5) ALX4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60529"">60529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09451"">K09451</a>]
 (CRS6) ZIC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7545"">7545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09224"">K09224</a>]
 (CRS7) SMAD6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4091"">4091</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04677"">K04677</a>]",,,,,,"ICD-11: LB70.0
 ICD-10: Q75
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003398"">D003398</a>
 OMIM: <a href=""https://www.omim.org/entry/123100"">123100</a> <a href=""https://www.omim.org/entry/604757"">604757</a> <a href=""https://www.omim.org/entry/615314"">615314</a> <a href=""https://www.omim.org/entry/600775"">600775</a> <a href=""https://www.omim.org/entry/615529"">615529</a> <a href=""https://www.omim.org/entry/616602"">616602</a> <a href=""https://www.omim.org/entry/617439"">617439</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21248745"">21248745</a>
 著者        Johnson D, Wilkie AO
 タイトル      Craniosynostosis.
 雑誌        Eur J Hum Genet 19:369-76 (2011)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2010.235"">10.1038/ejhg.2010.235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23438589"">23438589</a> (CRS1, <a href=""https://pubmed.ncbi.nlm.nih.gov/CRS3,"">CRS3,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/CRS4)"">CRS4)</a>
 著者        Fitzpatrick DR
 タイトル      Filling in the gaps in cranial suture biology.
 雑誌        Nat Genet 45:231-2 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2557"">10.1038/ng.2557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8106171"">8106171</a> (CRS2)
 著者        Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al.
 タイトル      A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
 雑誌        Cell 75:443-50 (1993)
 DOI:<a href=""https://doi.org/10.1016/0092-8674(93)90379-5"">10.1016/0092-8674(93)90379-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22829454"">22829454</a> (CRS5)
 著者        Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA
 タイトル      ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
 雑誌        Hum Mutat 33:1626-9 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22166"">10.1002/humu.22166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26340333"">26340333</a> (CRS6)
 著者        Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
 タイトル      Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
 雑誌        Am J Hum Genet 97:378-88 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.007"">10.1016/j.ajhg.2015.07.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27606499"">27606499</a> (CRS7)
 著者        Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP
 タイトル      Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
 雑誌        Elife 5:e20125 (2016)
 DOI:<a href=""https://doi.org/10.7554/eLife.20125"">10.7554/eLife.20125</a>"
H02161,グレイグ尖頭多合指症候群,,,"Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.",先天奇形,,GLI3 [HSA:2737] [KO:K06230],,,,,,"ICD-11: LD26.2
 ICD-10: Q87.0
 MeSH: C537300
 OMIM: 175700","PMID:18435847
 著者        Biesecker LG
 タイトル      The Greig cephalopolysyndactyly syndrome.
 雑誌        Orphanet J Rare Dis 3:10 (2008)
 DOI:10.1186/1750-1172-3-10
 PMID:12414818
 著者        Elson E, Perveen R, Donnai D, Wall S, Black GC
 タイトル      De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
 雑誌        J Med Genet 39:804-6 (2002)
 DOI:10.1136/jmg.39.11.804
 PMID:15739154
 著者        Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
 タイトル      Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
 雑誌        Am J Hum Genet 76:609-22 (2005)
 DOI:10.1086/429346","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02161"">H02161</a>",グレイグ尖頭多合指症候群,"Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.",,"GLI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2737"">2737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06230"">K06230</a>]",,,,,,"ICD-11: LD26.2
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537300"">C537300</a>
 OMIM: <a href=""https://www.omim.org/entry/175700"">175700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18435847"">18435847</a>
 著者        Biesecker LG
 タイトル      The Greig cephalopolysyndactyly syndrome.
 雑誌        Orphanet J Rare Dis 3:10 (2008)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-3-10"">10.1186/1750-1172-3-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12414818"">12414818</a>
 著者        Elson E, Perveen R, Donnai D, Wall S, Black GC
 タイトル      De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
 雑誌        J Med Genet 39:804-6 (2002)
 DOI:<a href=""https://doi.org/10.1136/jmg.39.11.804"">10.1136/jmg.39.11.804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15739154"">15739154</a>
 著者        Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
 タイトル      Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
 雑誌        Am J Hum Genet 76:609-22 (2005)
 DOI:<a href=""https://doi.org/10.1086/429346"">10.1086/429346</a>"
H02162,"ウイルス性肝炎
 下位グループ    A型肝炎 [DS:H00411]
 B型肝炎 [DS:H00412]
 C型肝炎 [DS:H00413]
 D型肝炎 [DS:H00414]
 E型肝炎 [DS:H00415]
 上位グループ    劇症肝炎 [DS:H01712]",,,"Viral hepatitis is liver inflammation due to infection by viruses. There are five major hepatotropic viruses, which are different in viral taxonomy. Among them hepatitis B virus (HBV) and hepatitis C virus (HCV) are oncoviruses associated with hepatocellular carcinoma [DS:H00048].",感染症,,,"Hepatitis A virus (HAV) [GN:T40068] +ssRNA virus
 Hepatitis B virus (HBV) [GN:T40004] dsDNA-RT virus
 Hepatitis C virus (HCV) [GN:T40066] +ssRNA virus
 Hepatitis D virus (HDV) [GN:T40085] -ssRNA virus (satellite)
 Hepatitis E virus (HEV) [GN:T40067] +ssRNA virus",,,,,"ICD-11: 1E50 1E51
 MeSH: D006525","PMID:27394647
 著者        Stanaway JD, Flaxman AD, Naghavi M, Fitzmaurice C, Vos T, Abubakar I, Abu-Raddad LJ, Assadi R, Bhala N, Cowie B, Forouzanfour MH, Groeger J, Hanafiah KM, Jacobsen KH, James SL, MacLachlan J, Malekzadeh R, Martin NK, Mokdad AA, Mokdad AH, Murray CJL, Plass D, Rana S, Rein DB, Richardus JH, Sanabria J, Saylan M, Shahraz S, So S, Vlassov VV, Weiderpass E, Wiersma ST, Younis M, Yu C, El Sayed Zaki M, Cooke GS
 タイトル      The global burden of viral hepatitis from 1990 to 2013: findings from the Global Burden of Disease Study 2013.
 雑誌        Lancet 388:1081-1088 (2016)
 DOI:10.1016/S0140-6736(16)30579-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02162"">H02162</a>","ウイルス性肝炎
 下位グループ    A型肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00411"">H00411</a>]
 B型肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00412"">H00412</a>]
 C型肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00413"">H00413</a>]
 D型肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00414"">H00414</a>]
 E型肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00415"">H00415</a>]
 上位グループ    劇症肝炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01712"">H01712</a>]","Viral hepatitis is liver inflammation due to infection by viruses. There are five major hepatotropic viruses, which are different in viral taxonomy. Among them hepatitis B virus (HBV) and hepatitis C virus (HCV) are oncoviruses associated with hepatocellular carcinoma [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00048]."">H00048].</a>",,,"Hepatitis A virus (HAV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40068"">T40068</a>] +ssRNA virus
 Hepatitis B virus (HBV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40004"">T40004</a>] dsDNA-RT virus
 Hepatitis C virus (HCV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40066"">T40066</a>] +ssRNA virus
 Hepatitis D virus (HDV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40085"">T40085</a>] -ssRNA virus (satellite)
 Hepatitis E virus (HEV) [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40067"">T40067</a>] +ssRNA virus",,,,,"ICD-11: 1E50 1E51
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006525"">D006525</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27394647"">27394647</a>
 著者        Stanaway JD, Flaxman AD, Naghavi M, Fitzmaurice C, Vos T, Abubakar I, Abu-Raddad LJ, Assadi R, Bhala N, Cowie B, Forouzanfour MH, Groeger J, Hanafiah KM, Jacobsen KH, James SL, MacLachlan J, Malekzadeh R, Martin NK, Mokdad AA, Mokdad AH, Murray CJL, Plass D, Rana S, Rein DB, Richardus JH, Sanabria J, Saylan M, Shahraz S, So S, Vlassov VV, Weiderpass E, Wiersma ST, Younis M, Yu C, El Sayed Zaki M, Cooke GS
 タイトル      The global burden of viral hepatitis from 1990 to 2013: findings from the Global Burden of Disease Study 2013.
 雑誌        Lancet 388:1081-1088 (2016)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(16)30579-7"">10.1016/S0140-6736(16)30579-7</a>"
H02163,"オロプーシェ熱
 上位グループ    蚊媒介ウイルス熱 [DS:H00382]
 節足動物媒介ウイルス熱 [DS:H00383]
 節足動物媒介ウイルス熱 [DS:H00383]",,,"Oropouche fever is an infectious disease caused by Oropouche virus (OROV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by mosquitoes and biting midges. OROV was first isolated in 1955 in Trinidad and Tobago.",感染症,,,Oropouche virus [GN:T40062],,,,,ICD-11: 1D43,"PMID:28167595
 著者        Travassos da Rosa JF, de Souza WM, Pinheiro FP, Figueiredo ML, Cardoso JF, Acrani GO, Nunes MRT
 タイトル      Oropouche Virus: Clinical, Epidemiological, and Molecular Aspects of a Neglected Orthobunyavirus.
 雑誌        Am J Trop Med Hyg 96:1019-1030 (2017)
 DOI:10.4269/ajtmh.16-0672
 PMID:29617280
 著者        Sakkas H, Bozidis P, Franks A, Papadopoulou C
 タイトル      Oropouche Fever: A Review.
 雑誌        Viruses 10:E175 (2018)
 DOI:10.3390/v10040175
 PMID:29247710
 著者        Romero-Alvarez D, Escobar LE
 タイトル      Oropouche fever, an emergent disease from the Americas.
 雑誌        Microbes Infect 20:135-146 (2018)
 DOI:10.1016/j.micinf.2017.11.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02163"">H02163</a>","オロプーシェ熱
 上位グループ    蚊媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00382"">H00382</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]
 節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Oropouche fever is an infectious disease caused by Oropouche virus (OROV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by mosquitoes and biting midges. OROV was first isolated in 1955 in Trinidad and Tobago.",,,"Oropouche virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40062"">T40062</a>]",,,,,ICD-11: 1D43,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28167595"">28167595</a>
 著者        Travassos da Rosa JF, de Souza WM, Pinheiro FP, Figueiredo ML, Cardoso JF, Acrani GO, Nunes MRT
 タイトル      Oropouche Virus: Clinical, Epidemiological, and Molecular Aspects of a Neglected Orthobunyavirus.
 雑誌        Am J Trop Med Hyg 96:1019-1030 (2017)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.16-0672"">10.4269/ajtmh.16-0672</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29617280"">29617280</a>
 著者        Sakkas H, Bozidis P, Franks A, Papadopoulou C
 タイトル      Oropouche Fever: A Review.
 雑誌        Viruses 10:E175 (2018)
 DOI:<a href=""https://doi.org/10.3390/v10040175"">10.3390/v10040175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29247710"">29247710</a>
 著者        Romero-Alvarez D, Escobar LE
 タイトル      Oropouche fever, an emergent disease from the Americas.
 雑誌        Microbes Infect 20:135-146 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.micinf.2017.11.013"">10.1016/j.micinf.2017.11.013</a>"
H02164,"サシチョウバエ熱
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Sandfly fever is an infectious disease caused by Sandfly fever Naples virus (SFNV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by biting midges and mosquitoes. SFNV was first isolated in 1943 in Italy.",感染症,,,Sandfly fever Naples virus [GN:T40064],,,,,ICD-11: 1D45,"PMID:19485115
 著者        Brett-Major DM, Claborn DM
 タイトル      Sand fly fever: what have we learned in one hundred years?
 雑誌        Mil Med 174:426-31 (2009)
 DOI:10.7205/milmed-d-01-7508
 PMID:14501989
 著者        Dionisio D, Esperti F, Vivarelli A, Valassina M
 タイトル      Epidemiological, clinical and laboratory aspects of sandfly fever.
 雑誌        Curr Opin Infect Dis 16:383-8 (2003)
 DOI:10.1097/01.qco.0000092808.64370.fa","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02164"">H02164</a>","サシチョウバエ熱
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Sandfly fever is an infectious disease caused by Sandfly fever Naples virus (SFNV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by biting midges and mosquitoes. SFNV was first isolated in 1943 in Italy.",,,"Sandfly fever Naples virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40064"">T40064</a>]",,,,,ICD-11: 1D45,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19485115"">19485115</a>
 著者        Brett-Major DM, Claborn DM
 タイトル      Sand fly fever: what have we learned in one hundred years?
 雑誌        Mil Med 174:426-31 (2009)
 DOI:<a href=""https://doi.org/10.7205/milmed-d-01-7508"">10.7205/milmed-d-01-7508</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14501989"">14501989</a>
 著者        Dionisio D, Esperti F, Vivarelli A, Valassina M
 タイトル      Epidemiological, clinical and laboratory aspects of sandfly fever.
 雑誌        Curr Opin Infect Dis 16:383-8 (2003)
 DOI:<a href=""https://doi.org/10.1097/01.qco.0000092808.64370.fa"">10.1097/01.qco.0000092808.64370.fa</a>"
H02165,"コロラドダニ熱
 上位グループ    節足動物媒介ウイルス熱 [DS:H00383]",,,"Colorado tick fever is an infectious disease caused by Colorado tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor andersoni). CTFV was first isolated in 1944 in the Rocky Mountain region.",感染症,,,Colorado tick fever virus [GN:T40063],,,,,ICD-11: 1D41,"PMID:2849373
 著者        Emmons RW
 タイトル      Ecology of Colorado tick fever.
 雑誌        Annu Rev Microbiol 42:49-64 (1988)
 DOI:10.1146/annurev.mi.42.100188.000405
 PMID:26963018
 著者        Choi E, Pyzocha NJ, Maurer DM
 タイトル      Tick-Borne Illnesses.
 雑誌        Curr Sports Med Rep 15:98-104 (2016)
 DOI:10.1249/JSR.0000000000000238","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02165"">H02165</a>","コロラドダニ熱
 上位グループ    節足動物媒介ウイルス熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00383"">H00383</a>]","Colorado tick fever is an infectious disease caused by Colorado tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor andersoni). CTFV was first isolated in 1944 in the Rocky Mountain region.",,,"Colorado tick fever virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40063"">T40063</a>]",,,,,ICD-11: 1D41,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2849373"">2849373</a>
 著者        Emmons RW
 タイトル      Ecology of Colorado tick fever.
 雑誌        Annu Rev Microbiol 42:49-64 (1988)
 DOI:<a href=""https://doi.org/10.1146/annurev.mi.42.100188.000405"">10.1146/annurev.mi.42.100188.000405</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26963018"">26963018</a>
 著者        Choi E, Pyzocha NJ, Maurer DM
 タイトル      Tick-Borne Illnesses.
 雑誌        Curr Sports Med Rep 15:98-104 (2016)
 DOI:<a href=""https://doi.org/10.1249/JSR.0000000000000238"">10.1249/JSR.0000000000000238</a>"
H02166,"セントルイス脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Saint Louis encephalitis is an infection of the central nervous system caused by Saint Louis encephalitis virus (SLEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. SLEV was first isolated in 1933 in St Louis, Missouri, USA.",感染症,,,Saint Louis encephalitis virus [GN:T40327],,,,,ICD-11: 1C86,"PMID:18374605
 著者        Baillie GJ, Kolokotronis SO, Waltari E, Maffei JG, Kramer LD, Perkins SL
 タイトル      Phylogenetic and evolutionary analyses of St. Louis encephalitis virus genomes.
 雑誌        Mol Phylogenet Evol 47:717-28 (2008)
 DOI:10.1016/j.ympev.2008.02.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02166"">H02166</a>","セントルイス脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Saint Louis encephalitis is an infection of the central nervous system caused by Saint Louis encephalitis virus (SLEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. SLEV was first isolated in 1933 in St Louis, Missouri, USA.",,,"Saint Louis encephalitis virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40327"">T40327</a>]",,,,,ICD-11: 1C86,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18374605"">18374605</a>
 著者        Baillie GJ, Kolokotronis SO, Waltari E, Maffei JG, Kramer LD, Perkins SL
 タイトル      Phylogenetic and evolutionary analyses of St. Louis encephalitis virus genomes.
 雑誌        Mol Phylogenet Evol 47:717-28 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ympev.2008.02.015"">10.1016/j.ympev.2008.02.015</a>"
H02167,リンパ浮腫・二重睫毛症候群,,,"Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2.",先天奇形,,FOXC2 [HSA:2303] [KO:K09396],,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: C537710
 OMIM: 153400","PMID:11371511
 著者        Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE
 タイトル      Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
 雑誌        Hum Mol Genet 10:1185-9 (2001)
 DOI:10.1093/hmg/10.11.1185
 PMID:18986489
 著者        Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA
 タイトル      Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
 雑誌        Int J Dermatol 47 Suppl 1:52-5 (2008)
 DOI:10.1111/j.1365-4632.2008.03962.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02167"">H02167</a>",リンパ浮腫・二重睫毛症候群,"Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2.",,"FOXC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2303"">2303</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09396"">K09396</a>]",,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537710"">C537710</a>
 OMIM: <a href=""https://www.omim.org/entry/153400"">153400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11371511"">11371511</a>
 著者        Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE
 タイトル      Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
 雑誌        Hum Mol Genet 10:1185-9 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.11.1185"">10.1093/hmg/10.11.1185</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18986489"">18986489</a>
 著者        Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA
 タイトル      Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
 雑誌        Int J Dermatol 47 Suppl 1:52-5 (2008)
 DOI:<a href=""https://doi.org/10.1111/j.1365-4632.2008.03962.x"">10.1111/j.1365-4632.2008.03962.x</a>"
H02168,乏毛症・リンパ浮腫・毛細血管拡張症症候群,,,"Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic vessels. SOX18 mutations are associated with both recessive and dominant HLTS.",先天奇形,,SOX18 [HSA:54345] [KO:K09270],,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: C564327
 OMIM: 137940 607823","PMID:19429912
 著者        Downes M, Francois M, Ferguson C, Parton RG, Koopman P
 タイトル      Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.
 雑誌        Hum Mol Genet 18:2839-50 (2009)
 DOI:10.1093/hmg/ddp219
 PMID:26148450
 著者        Wunnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C
 タイトル      Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
 雑誌        Can J Cardiol 32:135.e1-7 (2016)
 DOI:10.1016/j.cjca.2015.04.004
 PMID:24697860
 著者        Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D
 タイトル      Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
 雑誌        Clin Genet 87:378-82 (2015)
 DOI:10.1111/cge.12388","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02168"">H02168</a>",乏毛症・リンパ浮腫・毛細血管拡張症症候群,"Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic vessels. SOX18 mutations are associated with both recessive and dominant HLTS.",,"SOX18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54345"">54345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09270"">K09270</a>]",,,,,,"ICD-11: BD93.0
 ICD-10: Q82.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564327"">C564327</a>
 OMIM: <a href=""https://www.omim.org/entry/137940"">137940</a> <a href=""https://www.omim.org/entry/607823"">607823</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19429912"">19429912</a>
 著者        Downes M, Francois M, Ferguson C, Parton RG, Koopman P
 タイトル      Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.
 雑誌        Hum Mol Genet 18:2839-50 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp219"">10.1093/hmg/ddp219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26148450"">26148450</a>
 著者        Wunnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C
 タイトル      Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
 雑誌        Can J Cardiol 32:135.e1-7 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.cjca.2015.04.004"">10.1016/j.cjca.2015.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24697860"">24697860</a>
 著者        Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D
 タイトル      Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
 雑誌        Clin Genet 87:378-82 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12388"">10.1111/cge.12388</a>"
H02169,Hennekam 症候群,,,"Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 has been described.",先天奇形,,"(HKLLS1) CCBE1 [HSA:147372] [KO:K19638]
 (HKLLS2) FAT4 [HSA:79633] [KO:K16669]
 (HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619]",,,,,,"ICD-11: BD93.0
 ICD-10: Q87.8
 MeSH: C537255
 OMIM: 235510 616006 618154","PMID:19935664 (CCBE1)
 著者        Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC
 タイトル      Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
 雑誌        Nat Genet 41:1272-4 (2009)
 DOI:10.1038/ng.484
 PMID:24913602 (FAT4)
 著者        Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC
 タイトル      Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
 雑誌        Hum Genet 133:1161-7 (2014)
 DOI:10.1007/s00439-014-1456-y
 PMID:28985353 (ADAMTS3)
 著者        Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M
 タイトル      Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
 雑誌        Hum Mol Genet 26:4095-4104 (2017)
 DOI:10.1093/hmg/ddx297","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02169"">H02169</a>",Hennekam 症候群,"Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 has been described.",,"(HKLLS1) CCBE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:147372"">147372</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19638"">K19638</a>]
 (HKLLS2) FAT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79633"">79633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16669"">K16669</a>]
 (HKLLS3) ADAMTS3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9508"">9508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08619"">K08619</a>]",,,,,,"ICD-11: BD93.0
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537255"">C537255</a>
 OMIM: <a href=""https://www.omim.org/entry/235510"">235510</a> <a href=""https://www.omim.org/entry/616006"">616006</a> <a href=""https://www.omim.org/entry/618154"">618154</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19935664"">19935664</a> (CCBE1)
 著者        Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC
 タイトル      Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
 雑誌        Nat Genet 41:1272-4 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.484"">10.1038/ng.484</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24913602"">24913602</a> (FAT4)
 著者        Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC
 タイトル      Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
 雑誌        Hum Genet 133:1161-7 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00439-014-1456-y"">10.1007/s00439-014-1456-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28985353"">28985353</a> (ADAMTS3)
 著者        Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M
 タイトル      Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
 雑誌        Hum Mol Genet 26:4095-4104 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx297"">10.1093/hmg/ddx297</a>"
H02170,小眼球症 (症候群性),,,"Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.",先天奇形,,"(MCOPS1) NAA10 [HSA:8260] [KO:K20791]
 (MCOPS2) BCOR [HSA:54880] [KO:K23215]
 (MCOPS3) SOX2 [HSA:6657] [KO:K16796]
 (MCOPS5) OTX2 [HSA:5015] [KO:K18490]
 (MCOPS6) BMP4 [HSA:652] [KO:K04662]
 (MCOPS7) HCCS [HSA:3052] [KO:K01764]
 (MCOPS9) STRA6 [HSA:64220] [KO:K23088]
 (MCOPS11) VAX1 [HSA:11023] [KO:K09318]
 (MCOPS12) RARB [HSA:5915] [KO:K08528]
 (MCOPS13) HMGB3 [HSA:3149] [KO:K11296]
 (MCOPS14) MAB21L2 [HSA:10586]
 (MCOPS15) TENM3 [HSA:55714] [KO:K24473]",,,,,,"ICD-11: LD21.0
 ICD-10: Q11.2
 MeSH: C537464 C537465 C565948 C566441 C566440 C537768
 OMIM: 309800 300166 206900 610125 607932 309801 601186 614402 615524 300915 615877 615145","PMID:22005280
 著者        Slavotinek AM
 タイトル      Eye development genes and known syndromes.
 雑誌        Mol Genet Metab 104:448-56 (2011)
 DOI:10.1016/j.ymgme.2011.09.029
 PMID:21825993
 著者        Bardakjian TM, Schneider A
 タイトル      The genetics of anophthalmia and microphthalmia.
 雑誌        Curr Opin Ophthalmol 22:309-13 (2011)
 DOI:10.1097/ICU.0b013e328349b004
 PMID:18039390
 著者        Verma AS, Fitzpatrick DR
 タイトル      Anophthalmia and microphthalmia.
 雑誌        Orphanet J Rare Dis 2:47 (2007)
 DOI:10.1186/1750-1172-2-47
 PMID:24431331 (NAA10)
 著者        Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T
 タイトル      A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
 雑誌        J Med Genet 51:185-96 (2014)
 DOI:10.1136/jmedgenet-2013-101660
 PMID:15004558 (BCOR)
 著者        Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG
 タイトル      Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
 雑誌        Nat Genet 36:411-6 (2004)
 DOI:10.1038/ng1321
 PMID:12612584 (SOX2)
 著者        Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR
 タイトル      Mutations in SOX2 cause anophthalmia.
 雑誌        Nat Genet 33:461-3 (2003)
 DOI:10.1038/ng1120
 PMID:15846561 (OTX2)
 著者        Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM
 タイトル      Heterozygous mutations of OTX2 cause severe ocular malformations.
 雑誌        Am J Hum Genet 76:1008-22 (2005)
 DOI:10.1086/430721
 PMID:18252212 (BMP4)
 著者        Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK
 タイトル      Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
 雑誌        Am J Hum Genet 82:304-19 (2008)
 DOI:10.1016/j.ajhg.2007.09.023
 PMID:17033964 (HCCS)
 著者        Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
 タイトル      Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 79:878-89 (2006)
 DOI:10.1086/508474
 PMID:17273977 (STRA6)
 著者        Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A
 タイトル      Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary  dysplasia, lung hypoplasia, and mental retardation.
 雑誌        Am J Hum Genet 80:550-60 (2007)
 DOI:10.1086/512203
 PMID:22095910 (VAX1)
 著者        Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF
 タイトル      VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
 雑誌        Hum Mutat 33:364-8 (2012)
 DOI:10.1002/humu.21658
 PMID:24075189 (RARB)
 著者        Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL
 タイトル      Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
 雑誌        Am J Hum Genet 93:765-72 (2013)
 DOI:10.1016/j.ajhg.2013.08.014
 PMID:24993872 (HMGB3)
 著者        Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW
 タイトル      Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
 雑誌        JAMA Ophthalmol 132:1215-20 (2014)
 DOI:10.1001/jamaophthalmol.2014.1731
 PMID:25719200 (MAB21L2)
 著者        Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV
 タイトル      Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
 雑誌        PLoS Genet 11:e1005002 (2015)
 DOI:10.1371/journal.pgen.1005002
 PMID:29753094 (TENM3)
 著者        Singh B, Srivastava P, Phadke SR
 タイトル      Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.
 雑誌        Eur J Med Genet 62:61-64 (2019)
 DOI:10.1016/j.ejmg.2018.05.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02170"">H02170</a>",小眼球症 (症候群性),"Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.",,"(MCOPS1) NAA10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8260"">8260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20791"">K20791</a>]
 (MCOPS2) BCOR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54880"">54880</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23215"">K23215</a>]
 (MCOPS3) SOX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6657"">6657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16796"">K16796</a>]
 (MCOPS5) OTX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5015"">5015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18490"">K18490</a>]
 (MCOPS6) BMP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:652"">652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04662"">K04662</a>]
 (MCOPS7) HCCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3052"">3052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01764"">K01764</a>]
 (MCOPS9) STRA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64220"">64220</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23088"">K23088</a>]
 (MCOPS11) VAX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11023"">11023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09318"">K09318</a>]
 (MCOPS12) RARB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5915"">5915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08528"">K08528</a>]
 (MCOPS13) HMGB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3149"">3149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11296"">K11296</a>]
 (MCOPS14) MAB21L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10586"">10586</a>]
 (MCOPS15) TENM3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55714"">55714</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24473"">K24473</a>]",,,,,,"ICD-11: LD21.0
 ICD-10: Q11.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537464"">C537464</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537465"">C537465</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565948"">C565948</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566441"">C566441</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566440"">C566440</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537768"">C537768</a>
 OMIM: <a href=""https://www.omim.org/entry/309800"">309800</a> <a href=""https://www.omim.org/entry/300166"">300166</a> <a href=""https://www.omim.org/entry/206900"">206900</a> <a href=""https://www.omim.org/entry/610125"">610125</a> <a href=""https://www.omim.org/entry/607932"">607932</a> <a href=""https://www.omim.org/entry/309801"">309801</a> <a href=""https://www.omim.org/entry/601186"">601186</a> <a href=""https://www.omim.org/entry/614402"">614402</a> <a href=""https://www.omim.org/entry/615524"">615524</a> <a href=""https://www.omim.org/entry/300915"">300915</a> <a href=""https://www.omim.org/entry/615877"">615877</a> <a href=""https://www.omim.org/entry/615145"">615145</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22005280"">22005280</a>
 著者        Slavotinek AM
 タイトル      Eye development genes and known syndromes.
 雑誌        Mol Genet Metab 104:448-56 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2011.09.029"">10.1016/j.ymgme.2011.09.029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21825993"">21825993</a>
 著者        Bardakjian TM, Schneider A
 タイトル      The genetics of anophthalmia and microphthalmia.
 雑誌        Curr Opin Ophthalmol 22:309-13 (2011)
 DOI:<a href=""https://doi.org/10.1097/ICU.0b013e328349b004"">10.1097/ICU.0b013e328349b004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18039390"">18039390</a>
 著者        Verma AS, Fitzpatrick DR
 タイトル      Anophthalmia and microphthalmia.
 雑誌        Orphanet J Rare Dis 2:47 (2007)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-2-47"">10.1186/1750-1172-2-47</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24431331"">24431331</a> (NAA10)
 著者        Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T
 タイトル      A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
 雑誌        J Med Genet 51:185-96 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101660"">10.1136/jmedgenet-2013-101660</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15004558"">15004558</a> (BCOR)
 著者        Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG
 タイトル      Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
 雑誌        Nat Genet 36:411-6 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1321"">10.1038/ng1321</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12612584"">12612584</a> (SOX2)
 著者        Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR
 タイトル      Mutations in SOX2 cause anophthalmia.
 雑誌        Nat Genet 33:461-3 (2003)
 DOI:<a href=""https://doi.org/10.1038/ng1120"">10.1038/ng1120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15846561"">15846561</a> (OTX2)
 著者        Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM
 タイトル      Heterozygous mutations of OTX2 cause severe ocular malformations.
 雑誌        Am J Hum Genet 76:1008-22 (2005)
 DOI:<a href=""https://doi.org/10.1086/430721"">10.1086/430721</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18252212"">18252212</a> (BMP4)
 著者        Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK
 タイトル      Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
 雑誌        Am J Hum Genet 82:304-19 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.09.023"">10.1016/j.ajhg.2007.09.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17033964"">17033964</a> (HCCS)
 著者        Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K
 タイトル      Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
 雑誌        Am J Hum Genet 79:878-89 (2006)
 DOI:<a href=""https://doi.org/10.1086/508474"">10.1086/508474</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273977"">17273977</a> (STRA6)
 著者        Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A
 タイトル      Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary  dysplasia, lung hypoplasia, and mental retardation.
 雑誌        Am J Hum Genet 80:550-60 (2007)
 DOI:<a href=""https://doi.org/10.1086/512203"">10.1086/512203</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22095910"">22095910</a> (VAX1)
 著者        Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF
 タイトル      VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
 雑誌        Hum Mutat 33:364-8 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.21658"">10.1002/humu.21658</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24075189"">24075189</a> (RARB)
 著者        Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL
 タイトル      Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
 雑誌        Am J Hum Genet 93:765-72 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.08.014"">10.1016/j.ajhg.2013.08.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24993872"">24993872</a> (HMGB3)
 著者        Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW
 タイトル      Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
 雑誌        JAMA Ophthalmol 132:1215-20 (2014)
 DOI:<a href=""https://doi.org/10.1001/jamaophthalmol.2014.1731"">10.1001/jamaophthalmol.2014.1731</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25719200"">25719200</a> (MAB21L2)
 著者        Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV
 タイトル      Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
 雑誌        PLoS Genet 11:e1005002 (2015)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1005002"">10.1371/journal.pgen.1005002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29753094"">29753094</a> (TENM3)
 著者        Singh B, Srivastava P, Phadke SR
 タイトル      Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.
 雑誌        Eur J Med Genet 62:61-64 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2018.05.004"">10.1016/j.ejmg.2018.05.004</a>"
H02171,"ロシオウイルス脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:H00379]",,,"Rocio viral encephalitis is an infection of the central nervous system caused by Rocio virus (ROCV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. ROCV was first isolated in 1975 in Brazil.",感染症,,,Rocio virus [GN:T40329],,,,,ICD-11: 1C87,"PMID:17622628
 著者        Medeiros DB, Nunes MR, Vasconcelos PF, Chang GJ, Kuno G
 タイトル      Complete genome characterization of Rocio virus (Flavivirus: Flaviviridae), a Brazilian flavivirus isolated from a fatal case of encephalitis during an epidemic in Sao Paulo state.
 雑誌        J Gen Virol 88:2237-46 (2007)
 DOI:10.1099/vir.0.82883-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02171"">H02171</a>","ロシオウイルス脳炎
 上位グループ    蚊媒介ウイルス性脳炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00379"">H00379</a>]","Rocio viral encephalitis is an infection of the central nervous system caused by Rocio virus (ROCV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. ROCV was first isolated in 1975 in Brazil.",,,"Rocio virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40329"">T40329</a>]",,,,,ICD-11: 1C87,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17622628"">17622628</a>
 著者        Medeiros DB, Nunes MR, Vasconcelos PF, Chang GJ, Kuno G
 タイトル      Complete genome characterization of Rocio virus (Flavivirus: Flaviviridae), a Brazilian flavivirus isolated from a fatal case of encephalitis during an epidemic in Sao Paulo state.
 雑誌        J Gen Virol 88:2237-46 (2007)
 DOI:<a href=""https://doi.org/10.1099/vir.0.82883-0"">10.1099/vir.0.82883-0</a>"
H02172,真性小眼球,,,"Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, some genes and loci have been implicated in familial forms of nanophthalmos.",先天奇形,,"(NNO2) MFRP [HSA:83552] [KO:K24359]
 (NNO4) TMEM98 [HSA:26022] [KO:K25292]",,,,,,"ICD-11: LA10.0
 ICD-10: Q11
 MeSH: C563983 C563700 C567498
 OMIM: 600165 609549 615972","PMID:29862063
 著者        Carricondo PC, Andrade T, Prasov L, Ayres BM, Moroi SE
 タイトル      Nanophthalmos: A Review of the Clinical Spectrum and Genetics.
 雑誌        J Ophthalmol 2018:2735465 (2018)
 DOI:10.1155/2018/2735465
 PMID:17167404
 著者        Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC
 タイトル      A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
 雑誌        Mol Vis 12:1483-9 (2006)
 PMID:24852644
 著者        Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE
 タイトル      Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
 雑誌        JAMA Ophthalmol 132:970-7 (2014)
 DOI:10.1001/jamaophthalmol.2014.946","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02172"">H02172</a>",真性小眼球,"Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, some genes and loci have been implicated in familial forms of nanophthalmos.",,"(NNO2) MFRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83552"">83552</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24359"">K24359</a>]
 (NNO4) TMEM98 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26022"">26022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25292"">K25292</a>]",,,,,,"ICD-11: LA10.0
 ICD-10: Q11
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563983"">C563983</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563700"">C563700</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567498"">C567498</a>
 OMIM: <a href=""https://www.omim.org/entry/600165"">600165</a> <a href=""https://www.omim.org/entry/609549"">609549</a> <a href=""https://www.omim.org/entry/615972"">615972</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29862063"">29862063</a>
 著者        Carricondo PC, Andrade T, Prasov L, Ayres BM, Moroi SE
 タイトル      Nanophthalmos: A Review of the Clinical Spectrum and Genetics.
 雑誌        J Ophthalmol 2018:2735465 (2018)
 DOI:<a href=""https://doi.org/10.1155/2018/2735465"">10.1155/2018/2735465</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17167404"">17167404</a>
 著者        Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC
 タイトル      A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
 雑誌        Mol Vis 12:1483-9 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24852644"">24852644</a>
 著者        Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, Craig JE
 タイトル      Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
 雑誌        JAMA Ophthalmol 132:970-7 (2014)
 DOI:<a href=""https://doi.org/10.1001/jamaophthalmol.2014.946"">10.1001/jamaophthalmol.2014.946</a>"
H02173,"アレナウイルス性出血熱
 下位グループ    南米出血熱 [DS:H00385]
 ラッサ熱 [DS:H00386]
 リンパ球性脈絡髄膜炎 [DS:H01324]",,,"Arenaviral hemorrhagic fever is a group of infectious diseases caused by Arenaviruses, which are in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses. Arenaviruses have a natural reservoir in rodents and occasionally infect humans. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting the restricted geographical distribution of natural reservoir species.",感染症,,,"(New World clade)
 Junin mammarenavirus [GN:T40005] (Argentina, 1958)
 Machupo mammarenavirus [GN:T40006] (Bolivia, 1963)
 Guanarito mammarenavirus [GN:T40007] (Venezuela, 1989)
 Sabia mammarenavirus [GN:T40008] (Brazil, 1993)
 Chapare mammarenavirus [GN:T40330] (Bolivia 2004)
 Lymphocytic choriomeningitis mammarenavirus (St Louis, USA, 1933)
 (Old World clade)
 Lassa mammarenavirus [GN:T40010] (Nigeria, 1969)
 Lujo mammarenavirus [GN:T40333] (Zambia & South Africa 2008)",,,,,ICD-11: 1D61,"PMID:20668086
 著者        Botten J, Whitton JL, Barrowman P, Sidney J, Whitmire JK, Alexander J, Kotturi MF, Sette A, Buchmeier MJ
 タイトル      A multivalent vaccination strategy for the prevention of Old World arenavirus infection in humans.
 雑誌        J Virol 84:9947-56 (2010)
 DOI:10.1128/JVI.00672-10","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02173"">H02173</a>","アレナウイルス性出血熱
 下位グループ    南米出血熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00385"">H00385</a>]
 ラッサ熱 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00386"">H00386</a>]
 リンパ球性脈絡髄膜炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01324"">H01324</a>]","Arenaviral hemorrhagic fever is a group of infectious diseases caused by Arenaviruses, which are in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses. Arenaviruses have a natural reservoir in rodents and occasionally infect humans. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting the restricted geographical distribution of natural reservoir species.",,,"(New World clade)
 Junin mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40005"">T40005</a>] (Argentina, 1958)
 Machupo mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40006"">T40006</a>] (Bolivia, 1963)
 Guanarito mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40007"">T40007</a>] (Venezuela, 1989)
 Sabia mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40008"">T40008</a>] (Brazil, 1993)
 Chapare mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40330"">T40330</a>] (Bolivia 2004)
 Lymphocytic choriomeningitis mammarenavirus (St Louis, USA, 1933)
 (Old World clade)
 Lassa mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40010"">T40010</a>] (Nigeria, 1969)
 Lujo mammarenavirus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40333"">T40333</a>] (Zambia & South Africa 2008)",,,,,ICD-11: 1D61,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20668086"">20668086</a>
 著者        Botten J, Whitton JL, Barrowman P, Sidney J, Whitmire JK, Alexander J, Kotturi MF, Sette A, Buchmeier MJ
 タイトル      A multivalent vaccination strategy for the prevention of Old World arenavirus infection in humans.
 雑誌        J Virol 84:9947-56 (2010)
 DOI:<a href=""https://doi.org/10.1128/JVI.00672-10"">10.1128/JVI.00672-10</a>"
H02174,精巣形成不全を伴う乳児突然死症候群,,,"Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.",神経系疾患,,TSPYL1 [HSA:7259] [KO:K11284],,,,,,"ICD-11: MH11
 ICD-10: G90.8
 MeSH: C563856
 OMIM: 608800","PMID:15273283
 著者        Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA
 タイトル      Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
 雑誌        Proc Natl Acad Sci U S A 101:11689-94 (2004)
 DOI:10.1073/pnas.0401194101
 PMID:16418600
 著者        Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O
 タイトル      Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
 雑誌        Genet Med 8:55-8 (2006)
 DOI:10.1097/01.gim.0000195898.15290.03","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02174"">H02174</a>",精巣形成不全を伴う乳児突然死症候群,"Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.",,"TSPYL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7259"">7259</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11284"">K11284</a>]",,,,,,"ICD-11: MH11
 ICD-10: G90.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563856"">C563856</a>
 OMIM: <a href=""https://www.omim.org/entry/608800"">608800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15273283"">15273283</a>
 著者        Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA
 タイトル      Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
 雑誌        Proc Natl Acad Sci U S A 101:11689-94 (2004)
 DOI:<a href=""https://doi.org/10.1073/pnas.0401194101"">10.1073/pnas.0401194101</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16418600"">16418600</a>
 著者        Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O
 タイトル      Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
 雑誌        Genet Med 8:55-8 (2006)
 DOI:<a href=""https://doi.org/10.1097/01.gim.0000195898.15290.03"">10.1097/01.gim.0000195898.15290.03</a>"
H02175,尿道下裂,,,"Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic and environmental factors. Mutations in the androgen receptor gene (AR) have been found in patients with severe forms of hypospadias. It was also reported that MAMLD1 is a causative gene. MAMLD1 is an X-linked transcriptional co-activator, expressed in foetal Sertoli and Leydig cells around the critical period for sexual development.",先天奇形,,"(HYSP1) AR [HSA:367] [KO:K08557]
 (HYSP2) MAMLD1 [HSA:10046] [KO:K19512]",,,,,,"ICD-11: LB53
 ICD-10: Q54
 MeSH: D007021
 OMIM: 300633 300758","PMID:21256920
 著者        Kalfa N, Philibert P, Baskin LS, Sultan C
 タイトル      Hypospadias: interactions between environment and genetics.
 雑誌        Mol Cell Endocrinol 335:89-95 (2011)
 DOI:10.1016/j.mce.2011.01.006
 PMID:17086185
 著者        Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T
 タイトル      CXorf6 is a causative gene for hypospadias.
 雑誌        Nat Genet 38:1369-71 (2006)
 DOI:10.1038/ng1900
 PMID:26613581
 著者        Bouty A, Ayers KL, Pask A, Heloury Y, Sinclair AH
 タイトル      The Genetic and Environmental Factors Underlying Hypospadias.
 雑誌        Sex Dev 9:239-259 (2015)
 DOI:10.1159/000441988","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02175"">H02175</a>",尿道下裂,"Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic and environmental factors. Mutations in the androgen receptor gene (AR) have been found in patients with severe forms of hypospadias. It was also reported that MAMLD1 is a causative gene. MAMLD1 is an X-linked transcriptional co-activator, expressed in foetal Sertoli and Leydig cells around the critical period for sexual development.",,"(HYSP1) AR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:367"">367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08557"">K08557</a>]
 (HYSP2) MAMLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10046"">10046</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19512"">K19512</a>]",,,,,,"ICD-11: LB53
 ICD-10: Q54
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007021"">D007021</a>
 OMIM: <a href=""https://www.omim.org/entry/300633"">300633</a> <a href=""https://www.omim.org/entry/300758"">300758</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21256920"">21256920</a>
 著者        Kalfa N, Philibert P, Baskin LS, Sultan C
 タイトル      Hypospadias: interactions between environment and genetics.
 雑誌        Mol Cell Endocrinol 335:89-95 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.mce.2011.01.006"">10.1016/j.mce.2011.01.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17086185"">17086185</a>
 著者        Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T
 タイトル      CXorf6 is a causative gene for hypospadias.
 雑誌        Nat Genet 38:1369-71 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1900"">10.1038/ng1900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26613581"">26613581</a>
 著者        Bouty A, Ayers KL, Pask A, Heloury Y, Sinclair AH
 タイトル      The Genetic and Environmental Factors Underlying Hypospadias.
 雑誌        Sex Dev 9:239-259 (2015)
 DOI:<a href=""https://doi.org/10.1159/000441988"">10.1159/000441988</a>"
H02176,停留精巣,,,"Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors in adulthood. Studies in humans have investigated the possibility that mutations in the INSL3 gene are the cause of cryptorchidism. It has shown that INSL3 is involved in testicular descent, however, mutations of this gene are not a frequent cause of cryptorchidism.",先天奇形,,INSL3 [HSA:3640] [KO:K21999],,,,,,"ICD-11: LB52
 ICD-10: Q53
 MeSH: D003456
 OMIM: 219050","PMID:20920735
 著者        Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM
 タイトル      What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis.
 雑誌        J Pediatr Surg 45:2074-86 (2010)
 DOI:10.1016/j.jpedsurg.2010.07.030
 PMID:12601553
 著者        Canto P, Escudero I, Soderlund D, Nishimura E, Carranza-Lira S, Gutierrez J, Nava A, Mendez JP
 タイトル      A novel mutation of the insulin-like 3 gene in patients with cryptorchidism.
 雑誌        J Hum Genet 48:86-90 (2003)
 DOI:10.1007/s100380300012
 PMID:29261861
 著者        Leslie SW, Villanueva CA
 タイトル      Cryptorchidism
 雑誌        StatPearls (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02176"">H02176</a>",停留精巣,"Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors in adulthood. Studies in humans have investigated the possibility that mutations in the INSL3 gene are the cause of cryptorchidism. It has shown that INSL3 is involved in testicular descent, however, mutations of this gene are not a frequent cause of cryptorchidism.",,"INSL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3640"">3640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21999"">K21999</a>]",,,,,,"ICD-11: LB52
 ICD-10: Q53
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003456"">D003456</a>
 OMIM: <a href=""https://www.omim.org/entry/219050"">219050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20920735"">20920735</a>
 著者        Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM
 タイトル      What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis.
 雑誌        J Pediatr Surg 45:2074-86 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jpedsurg.2010.07.030"">10.1016/j.jpedsurg.2010.07.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12601553"">12601553</a>
 著者        Canto P, Escudero I, Soderlund D, Nishimura E, Carranza-Lira S, Gutierrez J, Nava A, Mendez JP
 タイトル      A novel mutation of the insulin-like 3 gene in patients with cryptorchidism.
 雑誌        J Hum Genet 48:86-90 (2003)
 DOI:<a href=""https://doi.org/10.1007/s100380300012"">10.1007/s100380300012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29261861"">29261861</a>
 著者        Leslie SW, Villanueva CA
 タイトル      Cryptorchidism
 雑誌        StatPearls (2020)"
H02177,"アンドロゲン不応症
 下位グループ    完全型アンドロゲン不応症
 部分型アンドロゲン不応症",,,"Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action. Pathogenesis is the result of mutations in the X-linked androgen receptor (AR) gene, which encodes for the ligand-activated androgen receptor.",先天奇形,,AR [HSA:367] [KO:K08557],,,,,,"ICD-11: LD2A.4
 ICD-10: E34.5
 MeSH: D013734
 OMIM: 300068 312300","PMID:22698698
 著者        Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J
 タイトル      Androgen insensitivity syndrome.
 雑誌        Lancet 380:1419-28 (2012)
 DOI:10.1016/S0140-6736(12)60071-3
 PMID:1598912
 著者        Klocker H, Kaspar F, Eberle J, Uberreiter S, Radmayr C, Bartsch G
 タイトル      Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
 雑誌        Am J Hum Genet 50:1318-27 (1992)
 PMID:20301602
 著者        Gottlieb B, Trifiro MA
 タイトル      Androgen Insensitivity Syndrome
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02177"">H02177</a>","アンドロゲン不応症
 下位グループ    完全型アンドロゲン不応症
 部分型アンドロゲン不応症","Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action. Pathogenesis is the result of mutations in the X-linked androgen receptor (AR) gene, which encodes for the ligand-activated androgen receptor.",,"AR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:367"">367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08557"">K08557</a>]",,,,,,"ICD-11: LD2A.4
 ICD-10: E34.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013734"">D013734</a>
 OMIM: <a href=""https://www.omim.org/entry/300068"">300068</a> <a href=""https://www.omim.org/entry/312300"">312300</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22698698"">22698698</a>
 著者        Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J
 タイトル      Androgen insensitivity syndrome.
 雑誌        Lancet 380:1419-28 (2012)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(12)60071-3"">10.1016/S0140-6736(12)60071-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1598912"">1598912</a>
 著者        Klocker H, Kaspar F, Eberle J, Uberreiter S, Radmayr C, Bartsch G
 タイトル      Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
 雑誌        Am J Hum Genet 50:1318-27 (1992)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301602"">20301602</a>
 著者        Gottlieb B, Trifiro MA
 タイトル      Androgen Insensitivity Syndrome
 雑誌        GeneReviews (1993)"
H02178,"MASA 症候群
 上位グループ    遺伝性痙性対麻痺 [DS:H00266]
 L1 症候群 [DS:H01034]",,,"MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs) is an X-linked disorder. The main clinical features are summarised by the acronym. Mutations in the gene for neural cell adhesion molecule L1 (L1CAM) have been reported from families of MASA syndrome, X-linked recessive spastic paraplegia, and X-linked aqueductal stenosis or hydrocephalus (HSAS) [DS:H02458] and these syndromes form part of a clinical spectrum resulting from a heterogenous group of mutations in L1CAM.",先天奇形; 神経系疾患,,L1CAM [HSA:3897] [KO:K06550],,,,,,"ICD-11: 8B44.02
 ICD-10: G11.4
 MeSH: C536029
 OMIM: 303350","PMID:4855169
 著者        Bianchine JW, Lewis RC Jr
 タイトル      The MASA syndrome: a new heritable mental retardation syndrome.
 雑誌        Clin Genet 5:298-306 (1974)
 DOI:10.1111/j.1399-0004.1974.tb01697.x
 PMID:7920659
 著者        Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
 タイトル      X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
 雑誌        Nat Genet 7:402-7 (1994)
 DOI:10.1038/ng0794-402
 PMID:2737668
 著者        Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN
 タイトル      MASA syndrome: further clinical delineation and chromosomal localisation.
 雑誌        Hum Genet 82:367-70 (1989)
 DOI:10.1007/BF00273999","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02178"">H02178</a>","MASA 症候群
 上位グループ    遺伝性痙性対麻痺 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00266"">H00266</a>]
 L1 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01034"">H01034</a>]","MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs) is an X-linked disorder. The main clinical features are summarised by the acronym. Mutations in the gene for neural cell adhesion molecule L1 (L1CAM) have been reported from families of MASA syndrome, X-linked recessive spastic paraplegia, and X-linked aqueductal stenosis or hydrocephalus (HSAS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02458"">H02458</a>] and these syndromes form part of a clinical spectrum resulting from a heterogenous group of mutations in L1CAM.",,"L1CAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3897"">3897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06550"">K06550</a>]",,,,,,"ICD-11: 8B44.02
 ICD-10: G11.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536029"">C536029</a>
 OMIM: <a href=""https://www.omim.org/entry/303350"">303350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4855169"">4855169</a>
 著者        Bianchine JW, Lewis RC Jr
 タイトル      The MASA syndrome: a new heritable mental retardation syndrome.
 雑誌        Clin Genet 5:298-306 (1974)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1974.tb01697.x"">10.1111/j.1399-0004.1974.tb01697.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7920659"">7920659</a>
 著者        Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
 タイトル      X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
 雑誌        Nat Genet 7:402-7 (1994)
 DOI:<a href=""https://doi.org/10.1038/ng0794-402"">10.1038/ng0794-402</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2737668"">2737668</a>
 著者        Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN
 タイトル      MASA syndrome: further clinical delineation and chromosomal localisation.
 雑誌        Hum Genet 82:367-70 (1989)
 DOI:<a href=""https://doi.org/10.1007/BF00273999"">10.1007/BF00273999</a>"
H02179,Rippling muscle disease,,,"Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed.",神経系疾患; 筋骨格疾患,,CAV3 [HSA:859] [KO:K12959],,,,,,"ICD-11: 8C71.Y
 ICD-10: G71.8
 MeSH: C535686
 OMIM: 606072","PMID:15742369
 著者        Lamb GD
 タイトル      Rippling muscle disease may be caused by ""silent"" action potentials in the tubular system of skeletal muscle fibers.
 雑誌        Muscle Nerve 31:652-8 (2005)
 DOI:10.1002/mus.20307
 PMID:11431690
 著者        Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C
 タイトル      Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
 雑誌        Nat Genet 28:218-9 (2001)
 DOI:10.1038/90050
 PMID:19584897
 著者        Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C
 タイトル      Caveolinopathies: from the biology of caveolin-3 to human diseases.
 雑誌        Eur J Hum Genet 18:137-45 (2010)
 DOI:10.1038/ejhg.2009.103","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02179"">H02179</a>",Rippling muscle disease,"Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed.",,"CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]",,,,,,"ICD-11: 8C71.Y
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535686"">C535686</a>
 OMIM: <a href=""https://www.omim.org/entry/606072"">606072</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15742369"">15742369</a>
 著者        Lamb GD
 タイトル      Rippling muscle disease may be caused by ""silent"" action potentials in the tubular system of skeletal muscle fibers.
 雑誌        Muscle Nerve 31:652-8 (2005)
 DOI:<a href=""https://doi.org/10.1002/mus.20307"">10.1002/mus.20307</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11431690"">11431690</a>
 著者        Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C
 タイトル      Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
 雑誌        Nat Genet 28:218-9 (2001)
 DOI:<a href=""https://doi.org/10.1038/90050"">10.1038/90050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19584897"">19584897</a>
 著者        Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C
 タイトル      Caveolinopathies: from the biology of caveolin-3 to human diseases.
 雑誌        Eur J Hum Genet 18:137-45 (2010)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2009.103"">10.1038/ejhg.2009.103</a>"
H02180,McKusick-Kaufman 症候群,,,"McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.",先天奇形,,MKKS [HSA:8195] [KO:K09492],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C538159
 OMIM: 236700","PMID:10465109
 著者        David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A
 タイトル      Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
 雑誌        J Med Genet 36:599-603 (1999)
 DOI:10.1136/jmg.36.8.599
 PMID:12107442
 著者        Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG
 タイトル      Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
 雑誌        Hum Genet 110:561-7 (2002)
 DOI:10.1007/s00439-002-0733-3
 PMID:18094050
 著者        Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K
 タイトル      MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
 雑誌        Mol Biol Cell 19:899-911 (2008)
 DOI:10.1091/mbc.e07-07-0631","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02180"">H02180</a>",McKusick-Kaufman 症候群,"McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.",,"MKKS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8195"">8195</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09492"">K09492</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538159"">C538159</a>
 OMIM: <a href=""https://www.omim.org/entry/236700"">236700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10465109"">10465109</a>
 著者        David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A
 タイトル      Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
 雑誌        J Med Genet 36:599-603 (1999)
 DOI:<a href=""https://doi.org/10.1136/jmg.36.8.599"">10.1136/jmg.36.8.599</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12107442"">12107442</a>
 著者        Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG
 タイトル      Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
 雑誌        Hum Genet 110:561-7 (2002)
 DOI:<a href=""https://doi.org/10.1007/s00439-002-0733-3"">10.1007/s00439-002-0733-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18094050"">18094050</a>
 著者        Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K
 タイトル      MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
 雑誌        Mol Biol Cell 19:899-911 (2008)
 DOI:<a href=""https://doi.org/10.1091/mbc.e07-07-0631"">10.1091/mbc.e07-07-0631</a>"
H02181,"特発性高 CK 血症;
 突発性高クレアチンキナーゼ血症",,,"Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.",先天性代謝異常症,,CAV3 [HSA:859] [KO:K12959],,,,,,"ICD-11: 5C53.4
 OMIM: 123320","PMID:5422556
 著者        Emery AE, Spikesman A
 タイトル      Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.
 雑誌        J Neurol Sci 10:523-33 (1970)
 DOI:10.1016/0022-510X(70)90185-1
 PMID:16770780
 著者        Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC
 タイトル      CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
 雑誌        Muscle Nerve 34:656-8 (2006)
 DOI:10.1002/mus.20593
 PMID:16502425
 著者        Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A
 タイトル      Familial idiopathic hyper-CK-emia: an underrecognized condition.
 雑誌        Muscle Nerve 33:760-5 (2006)
 DOI:10.1002/mus.20525
 PMID:10746614
 著者        Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C
 タイトル      Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
 雑誌        Neurology 54:1373-6 (2000)
 DOI:10.1212/WNL.54.6.1373","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02181"">H02181</a>","特発性高 CK 血症;
 突発性高クレアチンキナーゼ血症","Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.",,"CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]",,,,,,"ICD-11: 5C53.4
 OMIM: <a href=""https://www.omim.org/entry/123320"">123320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/5422556"">5422556</a>
 著者        Emery AE, Spikesman A
 タイトル      Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.
 雑誌        J Neurol Sci 10:523-33 (1970)
 DOI:<a href=""https://doi.org/10.1016/0022-510X(70)90185-1"">10.1016/0022-510X(70)90185-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16770780"">16770780</a>
 著者        Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC
 タイトル      CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
 雑誌        Muscle Nerve 34:656-8 (2006)
 DOI:<a href=""https://doi.org/10.1002/mus.20593"">10.1002/mus.20593</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16502425"">16502425</a>
 著者        Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A
 タイトル      Familial idiopathic hyper-CK-emia: an underrecognized condition.
 雑誌        Muscle Nerve 33:760-5 (2006)
 DOI:<a href=""https://doi.org/10.1002/mus.20525"">10.1002/mus.20525</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10746614"">10746614</a>
 著者        Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C
 タイトル      Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
 雑誌        Neurology 54:1373-6 (2000)
 DOI:<a href=""https://doi.org/10.1212/WNL.54.6.1373"">10.1212/WNL.54.6.1373</a>"
H02182,"遠位型ミオパチー, Tateyama タイプ
 上位グループ    遠位型ミオパチー [DS:H00594]",,,"Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.",神経系疾患; 筋骨格疾患,,CAV3 [HSA:859] [KO:K12959],,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 OMIM: 614321","PMID:11805270
 著者        Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y
 タイトル      Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
 雑誌        Neurology 58:323-5 (2002)
 DOI:10.1212/WNL.58.2.323
 PMID:18930476
 著者        Gonzalez-Perez P, Gallano P, Gonzalez-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J
 タイトル      Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
 雑誌        J Neurol Sci 276:95-8 (2009)
 DOI:10.1016/j.jns.2008.09.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02182"">H02182</a>","遠位型ミオパチー, Tateyama タイプ
 上位グループ    遠位型ミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00594"">H00594</a>]","Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.",,"CAV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:859"">859</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12959"">K12959</a>]",,,,,,"ICD-11: 8C75
 ICD-10: G71.0
 OMIM: <a href=""https://www.omim.org/entry/614321"">614321</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11805270"">11805270</a>
 著者        Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y
 タイトル      Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
 雑誌        Neurology 58:323-5 (2002)
 DOI:<a href=""https://doi.org/10.1212/WNL.58.2.323"">10.1212/WNL.58.2.323</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18930476"">18930476</a>
 著者        Gonzalez-Perez P, Gallano P, Gonzalez-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J
 タイトル      Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
 雑誌        J Neurol Sci 276:95-8 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2008.09.009"">10.1016/j.jns.2008.09.009</a>"
H02183,"Parastremmatic dwarfism;
 歪捻肢骨異形成症",,,"Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term ""parastremmatic"" is used from the Greek parastremma (distorted limb).",先天奇形,,TRPV4 [HSA:59341] [KO:K04973],,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: C537172
 OMIM: 168400","PMID:20503319
 著者        Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
 タイトル      Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
 雑誌        Am J Med Genet A 152A:1443-9 (2010)
 DOI:10.1002/ajmg.a.33414
 PMID:4992387
 著者        Langer LO, Petersen D, Spranger J
 タイトル      An unusual bone dysplasia: parastremmatic dwarfism.
 雑誌        Am J Roentgenol Radium Ther Nucl Med 110:550-60 (1970)
 DOI:10.2214/ajr.110.3.550","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02183"">H02183</a>","Parastremmatic dwarfism;
 歪捻肢骨異形成症","Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term ""parastremmatic"" is used from the Greek parastremma (distorted limb).",,"TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537172"">C537172</a>
 OMIM: <a href=""https://www.omim.org/entry/168400"">168400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20503319"">20503319</a>
 著者        Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
 タイトル      Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
 雑誌        Am J Med Genet A 152A:1443-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33414"">10.1002/ajmg.a.33414</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4992387"">4992387</a>
 著者        Langer LO, Petersen D, Spranger J
 タイトル      An unusual bone dysplasia: parastremmatic dwarfism.
 雑誌        Am J Roentgenol Radium Ther Nucl Med 110:550-60 (1970)
 DOI:<a href=""https://doi.org/10.2214/ajr.110.3.550"">10.2214/ajr.110.3.550</a>"
H02184,変容性骨異形成症,,,"Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.",先天奇形,,TRPV4 [HSA:59341] [KO:K04973],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.8
 MeSH: C537356
 OMIM: 156530","PMID:20425821
 著者        Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH
 タイトル      Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
 雑誌        Am J Med Genet A 152A:1169-77 (2010)
 DOI:10.1002/ajmg.a.33392","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02184"">H02184</a>",変容性骨異形成症,"Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.",,"TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537356"">C537356</a>
 OMIM: <a href=""https://www.omim.org/entry/156530"">156530</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20425821"">20425821</a>
 著者        Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH
 タイトル      Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
 雑誌        Am J Med Genet A 152A:1169-77 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33392"">10.1002/ajmg.a.33392</a>"
H02185,"脊椎骨幹端異形成
 下位グループ    脊椎骨幹端異形成 Kozlowski 型
 脊椎骨幹端異形成 corner fracture 型
 軸性脊椎骨幹端異形成 (SMDAX)
 脊椎骨幹端異形成 Sedaghatian 型 [DS:H01825]
 脊椎骨幹端異形成 Megarbane-Dagher-Melki 型 [DS:H01830]
 錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成 [DS:H01821]",,,"The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.",先天奇形,,"(SMDK) TRPV4 [HSA:59341] [KO:K04973]
 (SMDCF) FN1 [HSA:2335] [KO:K05717]
 (SMDAX) CFAP410 [HSA:755] [KO:K23456]
 (SMDCD) PLCB3 [HSA:5331] [KO:K05858]",,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: D010009
 OMIM: 184252 184255 602271 618961","PMID:19232556
 著者        Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
 タイトル      Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
 雑誌        Am J Hum Genet 84:307-15 (2009)
 DOI:10.1016/j.ajhg.2009.01.021
 PMID:29100092
 著者        Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
 タイトル      Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures"".
 雑誌        Am J Hum Genet 101:815-823 (2017)
 DOI:10.1016/j.ajhg.2017.09.019
 PMID:20503334
 著者        Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M
 タイトル      Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
 雑誌        Am J Med Genet A 152A:1550-4 (2010)
 DOI:10.1002/ajmg.a.33397
 PMID:23653587
 著者        Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G
 タイトル      COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
 雑誌        Mol Syndromol 4:148-51 (2013)
 DOI:10.1159/000346644
 PMID:29122926
 著者        Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L
 タイトル      Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
 雑誌        J Med Genet 55:122-130 (2018)
 DOI:10.1136/jmedgenet-2017-104827","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02185"">H02185</a>","脊椎骨幹端異形成
 下位グループ    脊椎骨幹端異形成 Kozlowski 型
 脊椎骨幹端異形成 corner fracture 型
 軸性脊椎骨幹端異形成 (SMDAX)
 脊椎骨幹端異形成 Sedaghatian 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01825"">H01825</a>]
 脊椎骨幹端異形成 Megarbane-Dagher-Melki 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01830"">H01830</a>]
 錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01821"">H01821</a>]","The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.",,"(SMDK) TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]
 (SMDCF) FN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2335"">2335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05717"">K05717</a>]
 (SMDAX) CFAP410 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:755"">755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23456"">K23456</a>]
 (SMDCD) PLCB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5331"">5331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05858"">K05858</a>]",,,,,,"ICD-11: LD24.4
 ICD-10: Q77.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/184252"">184252</a> <a href=""https://www.omim.org/entry/184255"">184255</a> <a href=""https://www.omim.org/entry/602271"">602271</a> <a href=""https://www.omim.org/entry/618961"">618961</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19232556"">19232556</a>
 著者        Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
 タイトル      Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
 雑誌        Am J Hum Genet 84:307-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2009.01.021"">10.1016/j.ajhg.2009.01.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100092"">29100092</a>
 著者        Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
 タイトル      Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures"".
 雑誌        Am J Hum Genet 101:815-823 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.019"">10.1016/j.ajhg.2017.09.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20503334"">20503334</a>
 著者        Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M
 タイトル      Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
 雑誌        Am J Med Genet A 152A:1550-4 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33397"">10.1002/ajmg.a.33397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23653587"">23653587</a>
 著者        Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G
 タイトル      COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
 雑誌        Mol Syndromol 4:148-51 (2013)
 DOI:<a href=""https://doi.org/10.1159/000346644"">10.1159/000346644</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29122926"">29122926</a>
 著者        Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L
 タイトル      Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
 雑誌        J Med Genet 55:122-130 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104827"">10.1136/jmedgenet-2017-104827</a>"
H02186,"脊椎骨端異形成 Maroteaux 型;
 偽モルキオ症候群 2型
 上位グループ    脊椎骨端異形成 [DS:H02462]",,,"Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.",先天奇形,,TRPV4 [HSA:59341] [KO:K04973],,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: C563218
 OMIM: 184095","PMID:20503319
 著者        Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
 タイトル      Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
 雑誌        Am J Med Genet A 152A:1443-9 (2010)
 DOI:10.1002/ajmg.a.33414","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02186"">H02186</a>","脊椎骨端異形成 Maroteaux 型;
 偽モルキオ症候群 2型
 上位グループ    脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>]","Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.",,"TRPV4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:59341"">59341</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04973"">K04973</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563218"">C563218</a>
 OMIM: <a href=""https://www.omim.org/entry/184095"">184095</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20503319"">20503319</a>
 著者        Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
 タイトル      Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
 雑誌        Am J Med Genet A 152A:1443-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33414"">10.1002/ajmg.a.33414</a>"
H02187,"脊椎骨端骨幹端異形成
 下位グループ    SMED Strudwick 型 (SEMDSTWK)
 SEMD Shohat 型 (SEMDSH)
 SEMD Faden-Alkuraya 型 (SEMDFA)
 SEMD Di Rocco 型 (SEMDDR)
 SEMD Isidor-Toutain 型 (SEMDIST)
 SEMD Krakow 型 (SEMDK)
 SEMD Aggrecan 型 (SEMDAG)
 SEMD Genevieve 型 (SEMDG)
 SEMD Sponastrime 型 (SEMSP)
 X-連鎖性 SEMD (SEMDX)
 SEMD Pakistani 型 [DS:H00761]
 SEMD Matrilin 型 [DS:H00767]
 SEMD 短肢・手型 [DS:H00777]
 関節弛緩を伴う SEMD [DS:H01494]
 SEMD Missouri 型 (SEMDM)
 大脳白質形成不全症を伴うSEMD (SEMDHL)",,,"Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia.",先天奇形,,"(SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719]
 (SEMDSH) DDRGK1 [HSA:65992] [KO:K23344]
 (SEMDFA) RSPRY1 [HSA:89970] [KO:K23332]
 (SEMDDR) UFSP2 [HSA:55325] [KO:K01376]
 (SEMDIST) RPL13 [HSA:6137] [KO:K02873]
 (SEMDIK) SIK3 [HSA:23387] [KO:K19009]
 (SEMDAG) ACAN [HSA:176] [KO:K06792]
 (SEMDG) NANS [HSA:54187] [KO:K05304]
 (SEMDSP) TONSL [HSA:4796] [KO:K09257]
 (SEMDX) BGN [HSA:633] [KO:K08118]
 (SEMDM) MMP13 [HSA:4322] [KO:K07994]
 (SEMDHL) AIFM1 [HSA:9131] [KO:K04727]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: D010009
 OMIM: 184250 602557 617974 618728 618162 612813 610442 271510 616723 602111 300232","PMID:18328979
 著者        Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia.
 雑誌        Best Pract Res Clin Rheumatol 22:33-44 (2008)
 DOI:10.1016/j.berh.2007.12.009
 PMID:7550321 (COL2A1)
 著者        Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR
 タイトル      Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
 雑誌        Nat Genet 11:87-9 (1995)
 DOI:10.1038/ng0995-87
 PMID:28263186 (DDRGK1)
 著者        Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH
 タイトル      Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
 雑誌        J Clin Invest 127:1475-1484 (2017)
 DOI:10.1172/JCI90193
 PMID:26365341 (RSPRY1)
 著者        Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS
 タイトル      Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
 雑誌        Am J Hum Genet 97:608-15 (2015)
 DOI:10.1016/j.ajhg.2015.08.007
 PMID:28892125 (UFSP2)
 著者        Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I
 タイトル      Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
 雑誌        Clin Genet 93:671-674 (2018)
 DOI:10.1111/cge.13134
 PMID:31630789 (RPL13)
 著者        Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Teletchea S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retiere C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B
 タイトル      RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
 雑誌        Am J Hum Genet 105:1040-1047 (2019)
 DOI:10.1016/j.ajhg.2019.09.024
 PMID:30232230 (SIK3)
 著者        Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D
 タイトル      The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
 雑誌        Sci Transl Med 10:eaat9356 (2018)
 DOI:10.1126/scitranslmed.aat9356
 PMID:19110214 (ACAN)
 著者        Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D
 タイトル      A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
 雑誌        Am J Hum Genet 84:72-9 (2009)
 DOI:10.1016/j.ajhg.2008.12.001
 PMID:27213289 (NANS)
 著者        van Karnebeek CD, Bonafe L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A
 タイトル      NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
 雑誌        Nat Genet 48:777-84 (2016)
 DOI:10.1038/ng.3578
 PMID:30773277 (TONSL)
 著者        Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B
 タイトル      Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
 雑誌        Am J Hum Genet 104:422-438 (2019)
 DOI:10.1016/j.ajhg.2019.01.007
 PMID:27236923 (BGN)
 著者        Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK
 タイトル      BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
 雑誌        Am J Hum Genet 98:1243-1248 (2016)
 DOI:10.1016/j.ajhg.2016.04.004
 PMID:16167086 (MMP13)
 著者        Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, Lopez-Otin C, Sanchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV
 タイトル      MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
 雑誌        J Clin Invest 115:2832-42 (2005)
 DOI:10.1172/JCI22900
 PMID:27102849 (AIFM1)
 著者        Mierzewska H, Rydzanicz M, Bieganski T, Kosinska J, Mierzewska-Schmidt M, Lugowska A, Pollak A, Stawinski P, Walczak A, Kedra A, Obersztyn E, Szczepanik E, Ploski R
 タイトル      Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
 雑誌        Clin Genet 91:30-37 (2017)
 DOI:10.1111/cge.12792","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02187"">H02187</a>","脊椎骨端骨幹端異形成
 下位グループ    SMED Strudwick 型 (SEMDSTWK)
 SEMD Shohat 型 (SEMDSH)
 SEMD Faden-Alkuraya 型 (SEMDFA)
 SEMD Di Rocco 型 (SEMDDR)
 SEMD Isidor-Toutain 型 (SEMDIST)
 SEMD Krakow 型 (SEMDK)
 SEMD Aggrecan 型 (SEMDAG)
 SEMD Genevieve 型 (SEMDG)
 SEMD Sponastrime 型 (SEMSP)
 X-連鎖性 SEMD (SEMDX)
 SEMD Pakistani 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00761"">H00761</a>]
 SEMD Matrilin 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00767"">H00767</a>]
 SEMD 短肢・手型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00777"">H00777</a>]
 関節弛緩を伴う SEMD [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01494"">H01494</a>]
 SEMD Missouri 型 (SEMDM)
 大脳白質形成不全症を伴うSEMD (SEMDHL)","Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia.",,"(SEMDSTWK) COL2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1280"">1280</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19719"">K19719</a>]
 (SEMDSH) DDRGK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65992"">65992</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23344"">K23344</a>]
 (SEMDFA) RSPRY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89970"">89970</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23332"">K23332</a>]
 (SEMDDR) UFSP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55325"">55325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01376"">K01376</a>]
 (SEMDIST) RPL13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6137"">6137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02873"">K02873</a>]
 (SEMDIK) SIK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23387"">23387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19009"">K19009</a>]
 (SEMDAG) ACAN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:176"">176</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06792"">K06792</a>]
 (SEMDG) NANS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54187"">54187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05304"">K05304</a>]
 (SEMDSP) TONSL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4796"">4796</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09257"">K09257</a>]
 (SEMDX) BGN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:633"">633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08118"">K08118</a>]
 (SEMDM) MMP13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4322"">4322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07994"">K07994</a>]
 (SEMDHL) AIFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9131"">9131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04727"">K04727</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/184250"">184250</a> <a href=""https://www.omim.org/entry/602557"">602557</a> <a href=""https://www.omim.org/entry/617974"">617974</a> <a href=""https://www.omim.org/entry/618728"">618728</a> <a href=""https://www.omim.org/entry/618162"">618162</a> <a href=""https://www.omim.org/entry/612813"">612813</a> <a href=""https://www.omim.org/entry/610442"">610442</a> <a href=""https://www.omim.org/entry/271510"">271510</a> <a href=""https://www.omim.org/entry/616723"">616723</a> <a href=""https://www.omim.org/entry/602111"">602111</a> <a href=""https://www.omim.org/entry/300232"">300232</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18328979"">18328979</a>
 著者        Cormier-Daire V
 タイトル      Spondylo-epi-metaphyseal dysplasia.
 雑誌        Best Pract Res Clin Rheumatol 22:33-44 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.berh.2007.12.009"">10.1016/j.berh.2007.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7550321"">7550321</a> (COL2A1)
 著者        Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR
 タイトル      Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
 雑誌        Nat Genet 11:87-9 (1995)
 DOI:<a href=""https://doi.org/10.1038/ng0995-87"">10.1038/ng0995-87</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28263186"">28263186</a> (DDRGK1)
 著者        Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH
 タイトル      Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
 雑誌        J Clin Invest 127:1475-1484 (2017)
 DOI:<a href=""https://doi.org/10.1172/JCI90193"">10.1172/JCI90193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26365341"">26365341</a> (RSPRY1)
 著者        Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS
 タイトル      Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
 雑誌        Am J Hum Genet 97:608-15 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.08.007"">10.1016/j.ajhg.2015.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28892125"">28892125</a> (UFSP2)
 著者        Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I
 タイトル      Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
 雑誌        Clin Genet 93:671-674 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13134"">10.1111/cge.13134</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31630789"">31630789</a> (RPL13)
 著者        Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Teletchea S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retiere C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B
 タイトル      RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
 雑誌        Am J Hum Genet 105:1040-1047 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.024"">10.1016/j.ajhg.2019.09.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30232230"">30232230</a> (SIK3)
 著者        Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D
 タイトル      The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
 雑誌        Sci Transl Med 10:eaat9356 (2018)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aat9356"">10.1126/scitranslmed.aat9356</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19110214"">19110214</a> (ACAN)
 著者        Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D
 タイトル      A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
 雑誌        Am J Hum Genet 84:72-9 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.001"">10.1016/j.ajhg.2008.12.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27213289"">27213289</a> (NANS)
 著者        van Karnebeek CD, Bonafe L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A
 タイトル      NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
 雑誌        Nat Genet 48:777-84 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3578"">10.1038/ng.3578</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30773277"">30773277</a> (TONSL)
 著者        Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B
 タイトル      Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
 雑誌        Am J Hum Genet 104:422-438 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.01.007"">10.1016/j.ajhg.2019.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27236923"">27236923</a> (BGN)
 著者        Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK
 タイトル      BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
 雑誌        Am J Hum Genet 98:1243-1248 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.04.004"">10.1016/j.ajhg.2016.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16167086"">16167086</a> (MMP13)
 著者        Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, Lopez-Otin C, Sanchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV
 タイトル      MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
 雑誌        J Clin Invest 115:2832-42 (2005)
 DOI:<a href=""https://doi.org/10.1172/JCI22900"">10.1172/JCI22900</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27102849"">27102849</a> (AIFM1)
 著者        Mierzewska H, Rydzanicz M, Bieganski T, Kosinska J, Mierzewska-Schmidt M, Lugowska A, Pollak A, Stawinski P, Walczak A, Kedra A, Obersztyn E, Szczepanik E, Ploski R
 タイトル      Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
 雑誌        Clin Genet 91:30-37 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12792"">10.1111/cge.12792</a>"
H02188,"Watson 症候群;
 カフェオレ斑を伴う肺動脈弁狭窄
 上位グループ    神経線維腫症 I 型 [DS:H01437]",,,"Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.",先天奇形,,NF1 [HSA:4763] [KO:K08052],,,,,,"ICD-11: EC23.1
 ICD-10: Q85.0
 MeSH: D009456
 OMIM: 193520","PMID:1770531
 著者        Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al.
 タイトル      Watson syndrome: is it a subtype of type 1 neurofibromatosis?
 雑誌        J Med Genet 28:752-6 (1991)
 DOI:10.1136/jmg.28.11.752
 PMID:8317503
 著者        Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
 タイトル      Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
 雑誌        Am J Hum Genet 53:90-5 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02188"">H02188</a>","Watson 症候群;
 カフェオレ斑を伴う肺動脈弁狭窄
 上位グループ    神経線維腫症 I 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01437"">H01437</a>]","Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.",,"NF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]",,,,,,"ICD-11: EC23.1
 ICD-10: Q85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009456"">D009456</a>
 OMIM: <a href=""https://www.omim.org/entry/193520"">193520</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1770531"">1770531</a>
 著者        Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al.
 タイトル      Watson syndrome: is it a subtype of type 1 neurofibromatosis?
 雑誌        J Med Genet 28:752-6 (1991)
 DOI:<a href=""https://doi.org/10.1136/jmg.28.11.752"">10.1136/jmg.28.11.752</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8317503"">8317503</a>
 著者        Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
 タイトル      Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
 雑誌        Am J Hum Genet 53:90-5 (1993)"
H02189,"神経線維腫性ヌーナン症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]
 神経線維腫症 I 型 [DS:H01437]",,,"Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS.",先天奇形,,NF1 [HSA:4763] [KO:K08052],,,,,,"ICD-11: LD27.5
 ICD-10: Q87.1
 MeSH: C537393
 OMIM: 601321","PMID:27107091
 著者        Yapijakis C, Pachis N, Natsis S, Voumvourakis C
 タイトル      Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?
 雑誌        In Vivo 30:315-20 (2016)
 PMID:12707950
 著者        Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C
 タイトル      Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
 雑誌        Am J Med Genet A 119A:1-8 (2003)
 DOI:10.1002/ajmg.a.20023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02189"">H02189</a>","神経線維腫性ヌーナン症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]
 神経線維腫症 I 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01437"">H01437</a>]","Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS.",,"NF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]",,,,,,"ICD-11: LD27.5
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537393"">C537393</a>
 OMIM: <a href=""https://www.omim.org/entry/601321"">601321</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27107091"">27107091</a>
 著者        Yapijakis C, Pachis N, Natsis S, Voumvourakis C
 タイトル      Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?
 雑誌        In Vivo 30:315-20 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12707950"">12707950</a>
 著者        Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C
 タイトル      Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
 雑誌        Am J Med Genet A 119A:1-8 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20023"">10.1002/ajmg.a.20023</a>"
H02190,"CBL 症候群;
 若年性骨髄単球性白血病を伴うヌーナン様症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]",,,"CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental delay, and cryptorchidism resembling Noonan syndrome. In addition, patients have distinctive facial features, cardiovascular malformation, cerebellar vermis hypoplasia, and predisposition to juvenile myelomonocytic leukaemia.",先天奇形,,CBL [HSA:867] [KO:K04707],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: 613563","PMID:20694012
 著者        Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Stary J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML
 タイトル      Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
 雑誌        Nat Genet 42:794-800 (2010)
 DOI:10.1038/ng.641
 PMID:23312968
 著者        Roberts AE, Allanson JE, Tartaglia M, Gelb BD
 タイトル      Noonan syndrome.
 雑誌        Lancet 381:333-42 (2013)
 DOI:10.1016/S0140-6736(12)61023-X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02190"">H02190</a>","CBL 症候群;
 若年性骨髄単球性白血病を伴うヌーナン様症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental delay, and cryptorchidism resembling Noonan syndrome. In addition, patients have distinctive facial features, cardiovascular malformation, cerebellar vermis hypoplasia, and predisposition to juvenile myelomonocytic leukaemia.",,"CBL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/613563"">613563</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20694012"">20694012</a>
 著者        Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Stary J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML
 タイトル      Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
 雑誌        Nat Genet 42:794-800 (2010)
 DOI:<a href=""https://doi.org/10.1038/ng.641"">10.1038/ng.641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23312968"">23312968</a>
 著者        Roberts AE, Allanson JE, Tartaglia M, Gelb BD
 タイトル      Noonan syndrome.
 雑誌        Lancet 381:333-42 (2013)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(12)61023-X"">10.1016/S0140-6736(12)61023-X</a>"
H02191,"成長期脱毛を伴うヌーナン様症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:H00523]",,,"Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified.",先天奇形,,"(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
 (NSLH2) PPP1CB [HSA:5500] [KO:K06269]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: C564342
 OMIM: 607721 617506","PMID:19684605
 著者        Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M
 タイトル      Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
 雑誌        Nat Genet 41:1022-6 (2009)
 DOI:10.1038/ng.425
 PMID:28211982
 著者        Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C
 タイトル      The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
 雑誌        Am J Med Genet A 173:824-828 (2017)
 DOI:10.1002/ajmg.a.38070","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02191"">H02191</a>","成長期脱毛を伴うヌーナン様症候群
 上位グループ    ヌーナン症候群類縁疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00523"">H00523</a>]","Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified.",,"(NSLH1) SHOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8036"">8036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19613"">K19613</a>]
 (NSLH2) PPP1CB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5500"">5500</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06269"">K06269</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564342"">C564342</a>
 OMIM: <a href=""https://www.omim.org/entry/607721"">607721</a> <a href=""https://www.omim.org/entry/617506"">617506</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19684605"">19684605</a>
 著者        Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M
 タイトル      Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
 雑誌        Nat Genet 41:1022-6 (2009)
 DOI:<a href=""https://doi.org/10.1038/ng.425"">10.1038/ng.425</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28211982"">28211982</a>
 著者        Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C
 タイトル      The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
 雑誌        Am J Med Genet A 173:824-828 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38070"">10.1002/ajmg.a.38070</a>"
H02192,良性反復性肝内胆汁うっ滞,,,"Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and permanent form of PFIC.",消化器系疾患,,"(BRIC1) ATP8B1 [HSA:5205] [KO:K01530]
 (BRIC2) ABCB11 [HSA:8647] [KO:K05664]",,,,,,"ICD-11: 5C58.04
 ICD-10: K83.1
 MeSH: D002780
 OMIM: 243300 605479 9500542 15300568","PMID:30148122
 著者        Sticova E, Jirsa M, Pawlowska J
 タイトル      New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
 雑誌        Can J Gastroenterol Hepatol 2018:2313675 (2018)
 DOI:10.1155/2018/2313675
 PMID:22229830
 著者        Folvik G, Hilde O, Helge GO
 タイトル      Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases.
 雑誌        Scand J Gastroenterol 47:482-8 (2012)
 DOI:10.3109/00365521.2011.650191
 PMID:20955958
 著者        van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
 タイトル      Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
 雑誌        Best Pract Res Clin Gastroenterol 24:541-53 (2010)
 DOI:10.1016/j.bpg.2010.07.010
 PMID:9500542
 著者        Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
 タイトル      A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
 雑誌        Nat Genet 18:219-24 (1998)
 DOI:10.1038/ng0398-219
 PMID:15300568
 著者        van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW
 タイトル      Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
 雑誌        Gastroenterology 127:379-84 (2004)
 DOI:10.1053/j.gastro.2004.04.065","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02192"">H02192</a>",良性反復性肝内胆汁うっ滞,"Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and permanent form of PFIC.",,"(BRIC1) ATP8B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5205"">5205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01530"">K01530</a>]
 (BRIC2) ABCB11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8647"">8647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05664"">K05664</a>]",,,,,,"ICD-11: 5C58.04
 ICD-10: K83.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002780"">D002780</a>
 OMIM: <a href=""https://www.omim.org/entry/243300"">243300</a> <a href=""https://www.omim.org/entry/605479"">605479</a> <a href=""https://www.omim.org/entry/9500542"">9500542</a> <a href=""https://www.omim.org/entry/15300568"">15300568</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30148122"">30148122</a>
 著者        Sticova E, Jirsa M, Pawlowska J
 タイトル      New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
 雑誌        Can J Gastroenterol Hepatol 2018:2313675 (2018)
 DOI:<a href=""https://doi.org/10.1155/2018/2313675"">10.1155/2018/2313675</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22229830"">22229830</a>
 著者        Folvik G, Hilde O, Helge GO
 タイトル      Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases.
 雑誌        Scand J Gastroenterol 47:482-8 (2012)
 DOI:<a href=""https://doi.org/10.3109/00365521.2011.650191"">10.3109/00365521.2011.650191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20955958"">20955958</a>
 著者        van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
 タイトル      Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
 雑誌        Best Pract Res Clin Gastroenterol 24:541-53 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.bpg.2010.07.010"">10.1016/j.bpg.2010.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9500542"">9500542</a>
 著者        Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
 タイトル      A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
 雑誌        Nat Genet 18:219-24 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0398-219"">10.1038/ng0398-219</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15300568"">15300568</a>
 著者        van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW
 タイトル      Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
 雑誌        Gastroenterology 127:379-84 (2004)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2004.04.065"">10.1053/j.gastro.2004.04.065</a>"
H02193,妊娠性肝内胆汁うっ滞,,,"Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes the palms and soles, and biochemical evidence of elevated bile acids, with or without elevated liver function tests (LFTs). The etiology of ICP is influenced by a combination of genetic, endocrine, and environmental factors. Risk factors for ICP include multiple pregnancy, in vitro fertilization, advanced maternal age, history of prior affected pregnancy, positive family history, and hepatitis C infection.",消化器系疾患,,"(ICP1) ATP8B1 [HSA:5205] [KO:K01530]
 (ICP3) ABCB4 [HSA:5244] [KO:K05659]",,,,,,"ICD-11: JA65.0
 ICD-10: O26.6
 MeSH: D002780
 OMIM: 147480 614972","PMID:29480924
 著者        Wood AM, Livingston EG, Hughes BL, Kuller JA
 タイトル      Intrahepatic Cholestasis of Pregnancy: A Review of Diagnosis and Management.
 雑誌        Obstet Gynecol Surv 73:103-109 (2018)
 DOI:10.1097/OGX.0000000000000524
 PMID:28506676
 著者        McIlvride S, Dixon PH, Williamson C
 タイトル      Bile acids and gestation.
 雑誌        Mol Aspects Med 56:90-100 (2017)
 DOI:10.1016/j.mam.2017.05.003
 PMID:27265070
 著者        Ovadia C, Williamson C
 タイトル      Intrahepatic cholestasis of pregnancy: Recent advances.
 雑誌        Clin Dermatol 34:327-34 (2016)
 DOI:10.1016/j.clindermatol.2016.02.004
 PMID:15888793
 著者        Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C
 タイトル      ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
 雑誌        Gut 54:829-34 (2005)
 DOI:10.1136/gut.2004.058115
 PMID:9419367
 著者        de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M
 タイトル      Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
 雑誌        Proc Natl Acad Sci U S A 95:282-7 (1998)
 DOI:10.1073/pnas.95.1.282","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02193"">H02193</a>",妊娠性肝内胆汁うっ滞,"Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes the palms and soles, and biochemical evidence of elevated bile acids, with or without elevated liver function tests (LFTs). The etiology of ICP is influenced by a combination of genetic, endocrine, and environmental factors. Risk factors for ICP include multiple pregnancy, in vitro fertilization, advanced maternal age, history of prior affected pregnancy, positive family history, and hepatitis C infection.",,"(ICP1) ATP8B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5205"">5205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01530"">K01530</a>]
 (ICP3) ABCB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5244"">5244</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05659"">K05659</a>]",,,,,,"ICD-11: JA65.0
 ICD-10: O26.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002780"">D002780</a>
 OMIM: <a href=""https://www.omim.org/entry/147480"">147480</a> <a href=""https://www.omim.org/entry/614972"">614972</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29480924"">29480924</a>
 著者        Wood AM, Livingston EG, Hughes BL, Kuller JA
 タイトル      Intrahepatic Cholestasis of Pregnancy: A Review of Diagnosis and Management.
 雑誌        Obstet Gynecol Surv 73:103-109 (2018)
 DOI:<a href=""https://doi.org/10.1097/OGX.0000000000000524"">10.1097/OGX.0000000000000524</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28506676"">28506676</a>
 著者        McIlvride S, Dixon PH, Williamson C
 タイトル      Bile acids and gestation.
 雑誌        Mol Aspects Med 56:90-100 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.mam.2017.05.003"">10.1016/j.mam.2017.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27265070"">27265070</a>
 著者        Ovadia C, Williamson C
 タイトル      Intrahepatic cholestasis of pregnancy: Recent advances.
 雑誌        Clin Dermatol 34:327-34 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2016.02.004"">10.1016/j.clindermatol.2016.02.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15888793"">15888793</a>
 著者        Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C
 タイトル      ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
 雑誌        Gut 54:829-34 (2005)
 DOI:<a href=""https://doi.org/10.1136/gut.2004.058115"">10.1136/gut.2004.058115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9419367"">9419367</a>
 著者        de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M
 タイトル      Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
 雑誌        Proc Natl Acad Sci U S A 95:282-7 (1998)
 DOI:<a href=""https://doi.org/10.1073/pnas.95.1.282"">10.1073/pnas.95.1.282</a>"
H02194,North American Indian childhood cirrhosis,,,"North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. It has reported that a missense mutation in Cirhin causes NAIC. Cirhin/UTP4 is known to be required for ribosome biogenesis.",消化器系疾患,,CIRH1A [HSA:84916] [KO:K14548],,,,,,"ICD-11: DB93.20
 ICD-10: K74.6
 OMIM: 604901","PMID:11045837
 著者        Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A
 タイトル      North American Indian cirrhosis in children: a review of 30 cases.
 雑誌        J Pediatr Gastroenterol Nutr 31:395-404 (2000)
 DOI:10.1097/00005176-200010000-00013
 PMID:12417987
 著者        Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A
 タイトル      A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
 雑誌        Am J Hum Genet 71:1443-9 (2002)
 DOI:10.1086/344580","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02194"">H02194</a>",North American Indian childhood cirrhosis,"North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. It has reported that a missense mutation in Cirhin causes NAIC. Cirhin/UTP4 is known to be required for ribosome biogenesis.",,"CIRH1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84916"">84916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14548"">K14548</a>]",,,,,,"ICD-11: DB93.20
 ICD-10: K74.6
 OMIM: <a href=""https://www.omim.org/entry/604901"">604901</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11045837"">11045837</a>
 著者        Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A
 タイトル      North American Indian cirrhosis in children: a review of 30 cases.
 雑誌        J Pediatr Gastroenterol Nutr 31:395-404 (2000)
 DOI:<a href=""https://doi.org/10.1097/00005176-200010000-00013"">10.1097/00005176-200010000-00013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12417987"">12417987</a>
 著者        Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A
 タイトル      A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
 雑誌        Am J Hum Genet 71:1443-9 (2002)
 DOI:<a href=""https://doi.org/10.1086/344580"">10.1086/344580</a>"
H02195,"MEHMO 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]",,,"MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2).",先天奇形,,EIF2S3 [HSA:1968] [KO:K03242],,,,,,"ICD-11: LD29
 ICD-10: Q87.8
 MeSH: C537451
 OMIM: 300148","PMID:12032729
 著者        Leshinsky-Silver E, Zinger A, Bibi CN, Barash V, Sadeh M, Lev D, Sagie TL
 タイトル      MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
 雑誌        Eur J Hum Genet 10:226-30 (2002)
 DOI:10.1038/sj.ejhg.5200791
 PMID:28055140
 著者        Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Muller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM
 タイトル      EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
 雑誌        Hum Mutat 38:409-425 (2017)
 DOI:10.1002/humu.23170","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02195"">H02195</a>","MEHMO 症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]","MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2).",,"EIF2S3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1968"">1968</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03242"">K03242</a>]",,,,,,"ICD-11: LD29
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537451"">C537451</a>
 OMIM: <a href=""https://www.omim.org/entry/300148"">300148</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12032729"">12032729</a>
 著者        Leshinsky-Silver E, Zinger A, Bibi CN, Barash V, Sadeh M, Lev D, Sagie TL
 タイトル      MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
 雑誌        Eur J Hum Genet 10:226-30 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200791"">10.1038/sj.ejhg.5200791</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28055140"">28055140</a>
 著者        Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Muller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM
 タイトル      EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
 雑誌        Hum Mutat 38:409-425 (2017)
 DOI:<a href=""https://doi.org/10.1002/humu.23170"">10.1002/humu.23170</a>"
H02196,"X 連鎖性クレアチン欠乏症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]
 脳クレアチン欠乏症候群 [DS:H00849]",,,"Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.",先天性代謝異常症,,SLC6A8 [HSA:6535] [KO:K05041],,,,,,"ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: C535598
 OMIM: 300352","PMID:17603797
 著者        Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G
 タイトル      Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
 雑誌        Am J Med Genet A 143A:1771-4 (2007)
 DOI:10.1002/ajmg.a.31827
 PMID:12210795
 著者        Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G
 タイトル      X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
 雑誌        Ann Neurol 52:227-31 (2002)
 DOI:10.1002/ana.10246","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02196"">H02196</a>","X 連鎖性クレアチン欠乏症候群
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]
 脳クレアチン欠乏症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00849"">H00849</a>]","Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.",,"SLC6A8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6535"">6535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05041"">K05041</a>]",,,,,,"ICD-11: 5C53.4
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535598"">C535598</a>
 OMIM: <a href=""https://www.omim.org/entry/300352"">300352</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17603797"">17603797</a>
 著者        Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G
 タイトル      Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
 雑誌        Am J Med Genet A 143A:1771-4 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31827"">10.1002/ajmg.a.31827</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12210795"">12210795</a>
 著者        Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G
 タイトル      X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
 雑誌        Ann Neurol 52:227-31 (2002)
 DOI:<a href=""https://doi.org/10.1002/ana.10246"">10.1002/ana.10246</a>"
H02197,ミトコンドリアピルビン酸輸送体欠損症,,,"Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ratios and normal pyruvate dehydrogenase activity. Mitochondrial pyruvate carrier mediates the proton symport of pyruvate across the inner mitochondrial membrane, and plays a key role in glycolysis and gluconeogenesis.",先天性代謝異常症,,BRP44L [HSA:51660] [KO:K22138],,,,,,"ICD-11: 5C53.0Y
 ICD-10: E74.4
 OMIM: 614741","PMID:22628558
 著者        Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J
 タイトル      A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.
 雑誌        Science 337:96-100 (2012)
 DOI:10.1126/science.1218099
 PMID:12649063
 著者        Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM
 タイトル      Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
 雑誌        Mol Genet Metab 78:186-92 (2003)
 DOI:10.1016/s1096-7192(03)00016-7
 PMID:25748677
 著者        McCommis KS, Finck BN
 タイトル      Mitochondrial pyruvate transport: a historical perspective and future research directions.
 雑誌        Biochem J 466:443-54 (2015)
 DOI:10.1042/BJ20141171","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02197"">H02197</a>",ミトコンドリアピルビン酸輸送体欠損症,"Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ratios and normal pyruvate dehydrogenase activity. Mitochondrial pyruvate carrier mediates the proton symport of pyruvate across the inner mitochondrial membrane, and plays a key role in glycolysis and gluconeogenesis.",,"BRP44L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51660"">51660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22138"">K22138</a>]",,,,,,"ICD-11: 5C53.0Y
 ICD-10: E74.4
 OMIM: <a href=""https://www.omim.org/entry/614741"">614741</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22628558"">22628558</a>
 著者        Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J
 タイトル      A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.
 雑誌        Science 337:96-100 (2012)
 DOI:<a href=""https://doi.org/10.1126/science.1218099"">10.1126/science.1218099</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12649063"">12649063</a>
 著者        Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM
 タイトル      Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
 雑誌        Mol Genet Metab 78:186-92 (2003)
 DOI:<a href=""https://doi.org/10.1016/s1096-7192(03)00016-7"">10.1016/s1096-7192(03)00016-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25748677"">25748677</a>
 著者        McCommis KS, Finck BN
 タイトル      Mitochondrial pyruvate transport: a historical perspective and future research directions.
 雑誌        Biochem J 466:443-54 (2015)
 DOI:<a href=""https://doi.org/10.1042/BJ20141171"">10.1042/BJ20141171</a>"
H02198,"膵欠損症および先天性心疾患;
 膵形成不全・糖尿病・心疾患;
 Yorifuji-Okuno 症候群",,,"Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.",先天奇形,,GATA6 [HSA:2627] [KO:K17897],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536714
 OMIM: 600001","PMID:22158542
 著者        Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, Ferrer J, Hattersley AT, Ellard S
 タイトル      GATA6 haploinsufficiency causes pancreatic agenesis in humans.
 雑誌        Nat Genet 44:20-22 (2011)
 DOI:10.1038/ng.1035
 PMID:22962692
 著者        Yorifuji T, Kawakita R, Hosokawa Y, Fujimaru R, Yamaguchi E, Tamagawa N
 タイトル      Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
 雑誌        J Med Genet 49:642-3 (2012)
 DOI:10.1136/jmedgenet-2012-101161","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02198"">H02198</a>","膵欠損症および先天性心疾患;
 膵形成不全・糖尿病・心疾患;
 Yorifuji-Okuno 症候群","Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.",,"GATA6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2627"">2627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17897"">K17897</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536714"">C536714</a>
 OMIM: <a href=""https://www.omim.org/entry/600001"">600001</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22158542"">22158542</a>
 著者        Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, Ferrer J, Hattersley AT, Ellard S
 タイトル      GATA6 haploinsufficiency causes pancreatic agenesis in humans.
 雑誌        Nat Genet 44:20-22 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.1035"">10.1038/ng.1035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22962692"">22962692</a>
 著者        Yorifuji T, Kawakita R, Hosokawa Y, Fujimaru R, Yamaguchi E, Tamagawa N
 タイトル      Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
 雑誌        J Med Genet 49:642-3 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101161"">10.1136/jmedgenet-2012-101161</a>"
H02199,先天性心疾患（複合型）,,,"Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood that abnormal cardiovascular development during embryogenesis may be attributed to an aberrant biological process that is heterogeneous and complex, with both environmental and genetic risk factors involved.",先天奇形,,"(CHTD1) ZIC3 [HSA:7547] [KO:K18487]
 (CHTD2) TAB2 [HSA:23118] [KO:K04404]
 (CHTD4) NR2F2 [HSA:7026] [KO:K08548]
 (CHTD5) GATA5 [HSA:140628] [KO:K17896]
 (CHTD6) GDF1 [HSA:2657] [KO:K05495]
 (CHTD7) FLT4 [HSA:2324] [KO:K05097]",,,,,,"ICD-11: LA8Y
 ICD-10: Q24
 MeSH: D006330
 OMIM: 306955 614980 615779 617912 613854 618780","PMID:14681828 (ZIC3)
 著者        Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW
 タイトル      Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
 雑誌        Am J Hum Genet 74:93-105 (2004)
 DOI:10.1086/380998
 PMID:20493459 (TAB2)
 著者        Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA
 タイトル      Haploinsufficiency of TAB2 causes congenital heart defects in humans.
 雑誌        Am J Hum Genet 86:839-49 (2010)
 DOI:10.1016/j.ajhg.2010.04.011
 PMID:24702954 (NR2F2)
 著者        Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, Wilson DI, Mital S, Hurles ME
 タイトル      Rare variants in NR2F2 cause congenital heart defects in humans.
 雑誌        Am J Hum Genet 94:574-85 (2014)
 DOI:10.1016/j.ajhg.2014.03.007
 PMID:23031282 (GATA5)
 著者        Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ, Fang WY, Chen XZ, Zhang W, Wang XZ, Yang YQ
 タイトル      Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.
 雑誌        Int J Cardiol 165:570-3 (2013)
 DOI:10.1016/j.ijcard.2012.09.039
 PMID:17924340 (GDF1)
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:10.1086/522890
 PMID:30232381 (FLT4)
 著者        Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS
 タイトル      Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
 雑誌        Genet Med 21:1001-1007 (2019)
 DOI:10.1038/s41436-018-0260-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02199"">H02199</a>",先天性心疾患（複合型）,"Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood that abnormal cardiovascular development during embryogenesis may be attributed to an aberrant biological process that is heterogeneous and complex, with both environmental and genetic risk factors involved.",,"(CHTD1) ZIC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7547"">7547</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18487"">K18487</a>]
 (CHTD2) TAB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23118"">23118</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04404"">K04404</a>]
 (CHTD4) NR2F2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7026"">7026</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08548"">K08548</a>]
 (CHTD5) GATA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:140628"">140628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17896"">K17896</a>]
 (CHTD6) GDF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2657"">2657</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05495"">K05495</a>]
 (CHTD7) FLT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2324"">2324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05097"">K05097</a>]",,,,,,"ICD-11: LA8Y
 ICD-10: Q24
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006330"">D006330</a>
 OMIM: <a href=""https://www.omim.org/entry/306955"">306955</a> <a href=""https://www.omim.org/entry/614980"">614980</a> <a href=""https://www.omim.org/entry/615779"">615779</a> <a href=""https://www.omim.org/entry/617912"">617912</a> <a href=""https://www.omim.org/entry/613854"">613854</a> <a href=""https://www.omim.org/entry/618780"">618780</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14681828"">14681828</a> (ZIC3)
 著者        Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW
 タイトル      Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
 雑誌        Am J Hum Genet 74:93-105 (2004)
 DOI:<a href=""https://doi.org/10.1086/380998"">10.1086/380998</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20493459"">20493459</a> (TAB2)
 著者        Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA
 タイトル      Haploinsufficiency of TAB2 causes congenital heart defects in humans.
 雑誌        Am J Hum Genet 86:839-49 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.04.011"">10.1016/j.ajhg.2010.04.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24702954"">24702954</a> (NR2F2)
 著者        Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, Wilson DI, Mital S, Hurles ME
 タイトル      Rare variants in NR2F2 cause congenital heart defects in humans.
 雑誌        Am J Hum Genet 94:574-85 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.03.007"">10.1016/j.ajhg.2014.03.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23031282"">23031282</a> (GATA5)
 著者        Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ, Fang WY, Chen XZ, Zhang W, Wang XZ, Yang YQ
 タイトル      Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.
 雑誌        Int J Cardiol 165:570-3 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ijcard.2012.09.039"">10.1016/j.ijcard.2012.09.039</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17924340"">17924340</a> (GDF1)
 著者        Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
 タイトル      Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
 雑誌        Am J Hum Genet 81:987-94 (2007)
 DOI:<a href=""https://doi.org/10.1086/522890"">10.1086/522890</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30232381"">30232381</a> (FLT4)
 著者        Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS
 タイトル      Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
 雑誌        Genet Med 21:1001-1007 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0260-9"">10.1038/s41436-018-0260-9</a>"
H02200,"卵巣機能障害を伴う進行性白質脳症;
 卵巣白質ジストロフィー
 上位グループ    VWM 型白質脳症 [DS:H00869]",,,"Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes mitochondrial alanyl-tRNA synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure.",神経系疾患; 先天性代謝異常症,,AARS2 [HSA:57505] [KO:K01872],,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: C565836
 OMIM: 615889","PMID:24808023
 著者        Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS
 タイトル      Novel (ovario) leukodystrophy related to AARS2 mutations.
 雑誌        Neurology 82:2063-71 (2014)
 DOI:10.1212/WNL.0000000000000497
 PMID:18678442
 著者        Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
 タイトル      The ovarioleukodystrophy.
 雑誌        Clin Neurol Neurosurg 110:1035-7 (2008)
 DOI:10.1016/j.clineuro.2008.06.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02200"">H02200</a>","卵巣機能障害を伴う進行性白質脳症;
 卵巣白質ジストロフィー
 上位グループ    VWM 型白質脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00869"">H00869</a>]","Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes mitochondrial alanyl-tRNA synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure.",,"AARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57505"">57505</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01872"">K01872</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565836"">C565836</a>
 OMIM: <a href=""https://www.omim.org/entry/615889"">615889</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24808023"">24808023</a>
 著者        Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS
 タイトル      Novel (ovario) leukodystrophy related to AARS2 mutations.
 雑誌        Neurology 82:2063-71 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000497"">10.1212/WNL.0000000000000497</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18678442"">18678442</a>
 著者        Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
 タイトル      The ovarioleukodystrophy.
 雑誌        Clin Neurol Neurosurg 110:1035-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.clineuro.2008.06.002"">10.1016/j.clineuro.2008.06.002</a>"
H02201,乳酸アシドーシスを伴うミトコンドリアミオパチー,,,"Mitochondrial myopathy with lactic acidosis is an autosomal recessive metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease.",先天性代謝異常症,,PNPLA8 [HSA:50640] [KO:K16815],,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: C537476
 OMIM: 251950","PMID:25512002
 著者        Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW
 タイトル      Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 gamma recapitulate the mitochondriopathy of the homologous null  mouse.
 雑誌        Hum Mutat 36:301-6 (2015)
 DOI:10.1002/humu.22743
 PMID:4725145
 著者        Hackett TN Jr, Bray PF, Ziter FA, Nyhan WL, Creer KM
 タイトル      A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
 雑誌        J Pediatr 83:426-31 (1973)
 DOI:10.1016/s0022-3476(73)80266-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02201"">H02201</a>",乳酸アシドーシスを伴うミトコンドリアミオパチー,"Mitochondrial myopathy with lactic acidosis is an autosomal recessive metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease.",,"PNPLA8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50640"">50640</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16815"">K16815</a>]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537476"">C537476</a>
 OMIM: <a href=""https://www.omim.org/entry/251950"">251950</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25512002"">25512002</a>
 著者        Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW
 タイトル      Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 gamma recapitulate the mitochondriopathy of the homologous null  mouse.
 雑誌        Hum Mutat 36:301-6 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22743"">10.1002/humu.22743</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4725145"">4725145</a>
 著者        Hackett TN Jr, Bray PF, Ziter FA, Nyhan WL, Creer KM
 タイトル      A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
 雑誌        J Pediatr 83:426-31 (1973)
 DOI:<a href=""https://doi.org/10.1016/s0022-3476(73)80266-5"">10.1016/s0022-3476(73)80266-5</a>"
H02202,斜顔面裂,,,"Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results in defective cell adhesion and migration.",先天奇形,,SPECC1L [HSA:23384] [KO:K23028],,,,,,"ICD-11: LA51
 ICD-10: Q18.8
 MeSH: C537736
 OMIM: 600251","PMID:21703590
 著者        Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL
 タイトル      Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
 雑誌        Am J Hum Genet 89:44-55 (2011)
 DOI:10.1016/j.ajhg.2011.05.023
 PMID:25357034
 著者        Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC
 タイトル      Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
 雑誌        Plast Reconstr Surg 134:748-59 (2014)
 DOI:10.1097/PRS.0000000000000517","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02202"">H02202</a>",斜顔面裂,"Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results in defective cell adhesion and migration.",,"SPECC1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23384"">23384</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23028"">K23028</a>]",,,,,,"ICD-11: LA51
 ICD-10: Q18.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537736"">C537736</a>
 OMIM: <a href=""https://www.omim.org/entry/600251"">600251</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21703590"">21703590</a>
 著者        Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL
 タイトル      Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
 雑誌        Am J Hum Genet 89:44-55 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.023"">10.1016/j.ajhg.2011.05.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25357034"">25357034</a>
 著者        Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC
 タイトル      Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
 雑誌        Plast Reconstr Surg 134:748-59 (2014)
 DOI:<a href=""https://doi.org/10.1097/PRS.0000000000000517"">10.1097/PRS.0000000000000517</a>"
H02203,"視神経形成不全
 上位グループ    中隔視神経形成異常症 [DS:H00544]
 眼組織欠損症 [DS:H01114]",,,"Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ocular abnormalities, cranial abnormalities, or facial anomalies. Most of cases are sporadic, but autosomal dominant ONH have been identified. It is caused by mutations in PAX6 gene that encodes the transcription factor.",先天奇形,,PAX6 [HSA:5080] [KO:K08031],,,,,,"ICD-11: LA13.70
 ICD-10: H47.0
 MeSH: C537130
 OMIM: 165550","PMID:12721955
 著者        Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M
 タイトル      Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
 雑誌        Am J Hum Genet 72:1565-70 (2003)
 DOI:10.1086/375555
 PMID:24082663
 著者        Kaur S, Jain S, Sodhi HB, Rastogi A, Kamlesh
 タイトル      Optic nerve hypoplasia.
 雑誌        Oman J Ophthalmol 6:77-82 (2013)
 DOI:10.4103/0974-620X.116622","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02203"">H02203</a>","視神経形成不全
 上位グループ    中隔視神経形成異常症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00544"">H00544</a>]
 眼組織欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01114"">H01114</a>]","Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ocular abnormalities, cranial abnormalities, or facial anomalies. Most of cases are sporadic, but autosomal dominant ONH have been identified. It is caused by mutations in PAX6 gene that encodes the transcription factor.",,"PAX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5080"">5080</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08031"">K08031</a>]",,,,,,"ICD-11: LA13.70
 ICD-10: H47.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537130"">C537130</a>
 OMIM: <a href=""https://www.omim.org/entry/165550"">165550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12721955"">12721955</a>
 著者        Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M
 タイトル      Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
 雑誌        Am J Hum Genet 72:1565-70 (2003)
 DOI:<a href=""https://doi.org/10.1086/375555"">10.1086/375555</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24082663"">24082663</a>
 著者        Kaur S, Jain S, Sodhi HB, Rastogi A, Kamlesh
 タイトル      Optic nerve hypoplasia.
 雑誌        Oman J Ophthalmol 6:77-82 (2013)
 DOI:<a href=""https://doi.org/10.4103/0974-620X.116622"">10.4103/0974-620X.116622</a>"
H02204,"遺伝性高フェリチン血症・白内障症候群;
 Bonneau-Beaumont 症候群",,,Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.,神経系疾患,,FTL [HSA:2512] [KO:K13625],,,,,,"ICD-11: 9B10.2Y
 ICD-10: H26.0
 MeSH: C538137
 OMIM: 600886","PMID:11703332
 著者        Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R
 タイトル      Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
 雑誌        Br J Haematol 115:334-40 (2001)
 DOI:10.1046/j.1365-2141.2001.03116.x
 PMID:23300176
 著者        Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P
 タイトル      Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
 雑誌        Haematologica 98:e42-3 (2013)
 DOI:10.3324/haematol.2012.077198","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02204"">H02204</a>","遺伝性高フェリチン血症・白内障症候群;
 Bonneau-Beaumont 症候群",Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.,,"FTL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2512"">2512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13625"">K13625</a>]",,,,,,"ICD-11: 9B10.2Y
 ICD-10: H26.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538137"">C538137</a>
 OMIM: <a href=""https://www.omim.org/entry/600886"">600886</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11703332"">11703332</a>
 著者        Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R
 タイトル      Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
 雑誌        Br J Haematol 115:334-40 (2001)
 DOI:<a href=""https://doi.org/10.1046/j.1365-2141.2001.03116.x"">10.1046/j.1365-2141.2001.03116.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23300176"">23300176</a>
 著者        Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P
 タイトル      Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
 雑誌        Haematologica 98:e42-3 (2013)
 DOI:<a href=""https://doi.org/10.3324/haematol.2012.077198"">10.3324/haematol.2012.077198</a>"
H02205,ムコ多糖症プラス症候群,,,"Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels of plasma heparan sulphate. Additionally, most patients develop heart, kidney, and hematopoietic disorders. It has been suggested that mutations in the VPS33A gene might be responsible for this disease. VPS33A plays a role in the vesicular transport system.",先天性代謝異常症,,VPS33A [HSA:65082] [KO:K20182],,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.2
 OMIM: 617303","PMID:28013294
 著者        Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N
 タイトル      Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
 雑誌        Hum Mol Genet 26:173-183 (2017)
 DOI:10.1093/hmg/ddw377
 PMID:27547915
 著者        Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK
 タイトル      A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
 雑誌        Clin Dysmorphol 26:1-12 (2017)
 DOI:10.1097/MCD.0000000000000149","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02205"">H02205</a>",ムコ多糖症プラス症候群,"Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels of plasma heparan sulphate. Additionally, most patients develop heart, kidney, and hematopoietic disorders. It has been suggested that mutations in the VPS33A gene might be responsible for this disease. VPS33A plays a role in the vesicular transport system.",,"VPS33A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65082"">65082</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20182"">K20182</a>]",,,,,,"ICD-11: 5C56.3Y
 ICD-10: E76.2
 OMIM: <a href=""https://www.omim.org/entry/617303"">617303</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28013294"">28013294</a>
 著者        Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N
 タイトル      Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
 雑誌        Hum Mol Genet 26:173-183 (2017)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw377"">10.1093/hmg/ddw377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27547915"">27547915</a>
 著者        Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK
 タイトル      A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
 雑誌        Clin Dysmorphol 26:1-12 (2017)
 DOI:<a href=""https://doi.org/10.1097/MCD.0000000000000149"">10.1097/MCD.0000000000000149</a>"
H02206,"無セルロプラスミン血症;
 セルロプラスミン欠損症
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:H00833]",,,"Aceruloplasminemia is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. The symptoms appear when patients are between 30 and 50 years old. Patients have serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The genetic defects in the ceruloplasmin gene has been identified in the patients.",神経系疾患,,CP [HSA:1356] [KO:K13624],,,,,,"ICD-11: 3A00.Y
 ICD-10: G23.0
 MeSH: C536004
 OMIM: 604290","PMID:7708681
 著者        Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD
 タイトル      Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
 雑誌        Proc Natl Acad Sci U S A 92:2539-43 (1995)
 DOI:10.1073/pnas.92.7.2539
 PMID:7755360
 著者        Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, Kato M, Yanagisawa N
 タイトル      Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
 雑誌        Ann Neurol 37:646-56 (1995)
 DOI:10.1002/ana.410370515","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02206"">H02206</a>","無セルロプラスミン血症;
 セルロプラスミン欠損症
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>]","Aceruloplasminemia is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. The symptoms appear when patients are between 30 and 50 years old. Patients have serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The genetic defects in the ceruloplasmin gene has been identified in the patients.",,"CP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1356"">1356</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13624"">K13624</a>]",,,,,,"ICD-11: 3A00.Y
 ICD-10: G23.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536004"">C536004</a>
 OMIM: <a href=""https://www.omim.org/entry/604290"">604290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7708681"">7708681</a>
 著者        Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD
 タイトル      Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
 雑誌        Proc Natl Acad Sci U S A 92:2539-43 (1995)
 DOI:<a href=""https://doi.org/10.1073/pnas.92.7.2539"">10.1073/pnas.92.7.2539</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7755360"">7755360</a>
 著者        Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S, Kato M, Yanagisawa N
 タイトル      Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
 雑誌        Ann Neurol 37:646-56 (1995)
 DOI:<a href=""https://doi.org/10.1002/ana.410370515"">10.1002/ana.410370515</a>"
H02207,"Kufor-Rakeb 症候群;
 パーキンソン病 9 型
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:H00833]",,,"Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations.",神経系疾患,,ATP13A2 [HSA:23400] [KO:K13526],,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: C537177
 OMIM: 606693","PMID:20310007
 著者        Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP
 タイトル      ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
 雑誌        Mov Disord 25:979-84 (2010)
 DOI:10.1002/mds.22947
 PMID:20853184
 著者        Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
 タイトル      Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
 雑誌        Neurogenetics 12:33-9 (2011)
 DOI:10.1007/s10048-010-0259-0
 PMID:15986421
 著者        Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ
 タイトル      Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.
 雑誌        Mov Disord 20:1264-71 (2005)
 DOI:10.1002/mds.20511","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02207"">H02207</a>","Kufor-Rakeb 症候群;
 パーキンソン病 9 型
 上位グループ    脳の鉄沈着を伴う神経変性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>]","Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations.",,"ATP13A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23400"">23400</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13526"">K13526</a>]",,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537177"">C537177</a>
 OMIM: <a href=""https://www.omim.org/entry/606693"">606693</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20310007"">20310007</a>
 著者        Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP
 タイトル      ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
 雑誌        Mov Disord 25:979-84 (2010)
 DOI:<a href=""https://doi.org/10.1002/mds.22947"">10.1002/mds.22947</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20853184"">20853184</a>
 著者        Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
 タイトル      Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
 雑誌        Neurogenetics 12:33-9 (2011)
 DOI:<a href=""https://doi.org/10.1007/s10048-010-0259-0"">10.1007/s10048-010-0259-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15986421"">15986421</a>
 著者        Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ
 タイトル      Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.
 雑誌        Mov Disord 20:1264-71 (2005)
 DOI:<a href=""https://doi.org/10.1002/mds.20511"">10.1002/mds.20511</a>"
H02208,"パントテン酸キナーゼ関連神経変性症;
 ハラーフォルデン・シュパッツ病;
 脳の鉄沈着を伴う神経変性症 1型
 下位グループ    HARP 症候群 [DS:H02209]
 上位グループ    中核群神経有棘赤血球症 [DS:H00832]
 脳の鉄沈着を伴う神経変性疾患 [DS:H00833]",,,"Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients.",神経系疾患,,PANK2 [HSA:80025] [KO:K09680],,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: D006211
 OMIM: 234200","PMID:16437574
 著者        Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T
 タイトル      Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
 雑誌        Ann Neurol 59:248-56 (2006)
 DOI:10.1002/ana.20771
 PMID:11479594
 著者        Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ
 タイトル      A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
 雑誌        Nat Genet 28:345-9 (2001)
 DOI:10.1038/ng572","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02208"">H02208</a>","パントテン酸キナーゼ関連神経変性症;
 ハラーフォルデン・シュパッツ病;
 脳の鉄沈着を伴う神経変性症 1型
 下位グループ    HARP 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02209"">H02209</a>]
 上位グループ    中核群神経有棘赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>]
 脳の鉄沈着を伴う神経変性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>]","Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients.",,"PANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80025"">80025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09680"">K09680</a>]",,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006211"">D006211</a>
 OMIM: <a href=""https://www.omim.org/entry/234200"">234200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16437574"">16437574</a>
 著者        Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T
 タイトル      Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
 雑誌        Ann Neurol 59:248-56 (2006)
 DOI:<a href=""https://doi.org/10.1002/ana.20771"">10.1002/ana.20771</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11479594"">11479594</a>
 著者        Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ
 タイトル      A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
 雑誌        Nat Genet 28:345-9 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng572"">10.1038/ng572</a>"
H02209,"HARP 症候群
 上位グループ    パントテン酸キナーゼ関連神経変性症 [DS:H02208]
 中核群神経有棘赤血球症 [DS:H00832]
 脳の鉄沈着を伴う神経変性疾患 [DS:H00833]",,,"HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).",神経系疾患,,PANK2 [HSA:80025] [KO:K09680],,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: C564603
 OMIM: 607236","PMID:12058097
 著者        Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
 タイトル      HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
 雑誌        Neurology 58:1673-4 (2002)
 DOI:10.1212/WNL.58.11.1673
 PMID:14638969
 著者        Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW
 タイトル      Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
 雑誌        Neurology 61:1423-6 (2003)
 DOI:10.1212/01.WNL.0000094120.09977.92","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02209"">H02209</a>","HARP 症候群
 上位グループ    パントテン酸キナーゼ関連神経変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02208"">H02208</a>]
 中核群神経有棘赤血球症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00832"">H00832</a>]
 脳の鉄沈着を伴う神経変性疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00833"">H00833</a>]","HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).",,"PANK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80025"">80025</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09680"">K09680</a>]",,,,,,"ICD-11: 5C64.10
 ICD-10: G23.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564603"">C564603</a>
 OMIM: <a href=""https://www.omim.org/entry/607236"">607236</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12058097"">12058097</a>
 著者        Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
 タイトル      HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
 雑誌        Neurology 58:1673-4 (2002)
 DOI:<a href=""https://doi.org/10.1212/WNL.58.11.1673"">10.1212/WNL.58.11.1673</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14638969"">14638969</a>
 著者        Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW
 タイトル      Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
 雑誌        Neurology 61:1423-6 (2003)
 DOI:<a href=""https://doi.org/10.1212/01.WNL.0000094120.09977.92"">10.1212/01.WNL.0000094120.09977.92</a>"
H02210,遠位肢前頭鼻異形成症,,,Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.,先天奇形,,ZSWIM6 [HSA:57688] [KO:K25704],,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: C535657
 OMIM: 603671","PMID:25105228
 著者        Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, Cunningham ML
 タイトル      Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
 雑誌        Am J Hum Genet 95:235-40 (2014)
 DOI:10.1016/j.ajhg.2014.07.008
 PMID:26706854
 著者        Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO
 タイトル      Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
 雑誌        Clin Genet 90:270-5 (2016)
 DOI:10.1111/cge.12721","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02210"">H02210</a>",遠位肢前頭鼻異形成症,Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.,,"ZSWIM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57688"">57688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25704"">K25704</a>]",,,,,,"ICD-11: LD25.3
 ICD-10: Q75.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535657"">C535657</a>
 OMIM: <a href=""https://www.omim.org/entry/603671"">603671</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25105228"">25105228</a>
 著者        Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, Cunningham ML
 タイトル      Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
 雑誌        Am J Hum Genet 95:235-40 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.008"">10.1016/j.ajhg.2014.07.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26706854"">26706854</a>
 著者        Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO
 タイトル      Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
 雑誌        Clin Genet 90:270-5 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12721"">10.1111/cge.12721</a>"
H02211,先端骨形成不全症,,,"Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A have been identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration.",先天奇形,,"(ACRDYS1) PRKAR1A [HSA:5573] [KO:K04739]
 (ACRDYS2) PDE4D [HSA:5144] [KO:K13293]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 MeSH: C538179
 OMIM: 101800 614613","PMID:21651393
 著者        Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougneres P, Clauser E, Silve C
 タイトル      Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
 雑誌        N Engl J Med 364:2218-26 (2011)
 DOI:10.1056/NEJMoa1012717
 PMID:22464250
 著者        Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
 雑誌        Am J Hum Genet 90:740-5 (2012)
 DOI:10.1016/j.ajhg.2012.03.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02211"">H02211</a>",先端骨形成不全症,"Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A have been identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration.",,"(ACRDYS1) PRKAR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5573"">5573</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04739"">K04739</a>]
 (ACRDYS2) PDE4D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5144"">5144</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13293"">K13293</a>]",,,,,,"ICD-11: LD2F.16
 ICD-10: Q75.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538179"">C538179</a>
 OMIM: <a href=""https://www.omim.org/entry/101800"">101800</a> <a href=""https://www.omim.org/entry/614613"">614613</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21651393"">21651393</a>
 著者        Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougneres P, Clauser E, Silve C
 タイトル      Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
 雑誌        N Engl J Med 364:2218-26 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1012717"">10.1056/NEJMoa1012717</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22464250"">22464250</a>
 著者        Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V
 タイトル      Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
 雑誌        Am J Hum Genet 90:740-5 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.003"">10.1016/j.ajhg.2012.03.003</a>"
H02212,家族性小児ミオクローヌスてんかん,,,"Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. Recently, mutations in TBC1D24, an ARF6-interacting protein, have been described as the cause of FIME. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension.",神経系疾患,,TBC1D24 [HSA:57465] [KO:K21841],,,,,,"ICD-11: 8A61.1Y
 ICD-10: G40.3
 MeSH: D004831
 OMIM: 605021","PMID:23517570
 著者        Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD
 タイトル      TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
 雑誌        Epilepsy Res 105:240-4 (2013)
 DOI:10.1016/j.eplepsyres.2013.02.005
 PMID:20727515
 著者        Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
 タイトル      TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
 雑誌        Am J Hum Genet 87:365-70 (2010)
 DOI:10.1016/j.ajhg.2010.07.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02212"">H02212</a>",家族性小児ミオクローヌスてんかん,"Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. Recently, mutations in TBC1D24, an ARF6-interacting protein, have been described as the cause of FIME. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension.",,"TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]",,,,,,"ICD-11: 8A61.1Y
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004831"">D004831</a>
 OMIM: <a href=""https://www.omim.org/entry/605021"">605021</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23517570"">23517570</a>
 著者        Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD
 タイトル      TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
 雑誌        Epilepsy Res 105:240-4 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2013.02.005"">10.1016/j.eplepsyres.2013.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20727515"">20727515</a>
 著者        Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
 タイトル      TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
 雑誌        Am J Hum Genet 87:365-70 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.07.020"">10.1016/j.ajhg.2010.07.020</a>"
H02213,良性成人型家族性ミオクローヌスてんかん,,,"Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported.",神経系疾患,,"(FAME1) SAMD12 [HSA:401474]
 (FAME2) STARD7 [HSA:56910] [KO:K24141]
 (FAME3) MARCH6 [HSA:10299] [KO:K10661]
 (FAME4) YEATS2 [HSA:55689] [KO:K24539]
 (FAME5) CNTN2 [HSA:6900] [KO:K06760]
 (FAME6) TNRC6A [HSA:27327] [KO:K18412]
 (FAME7) RAPGEF2 [HSA:9693] [KO:K08018]",,,,,,"ICD-11: 8A61.32
 ICD-10: G40.3
 MeSH: C563399 C564313 C567098
 OMIM: 601068 607876 613608 615127 615400 618074 618075","PMID:21850007
 著者        Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A
 タイトル      Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
 雑誌        J Hum Genet 56:742-7 (2011)
 DOI:10.1038/jhg.2011.93
 PMID:11914412
 著者        Labauge P, Amer LO, Simonetta-Moreau M, Attane F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
 タイトル      Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
 雑誌        Neurology 58:941-4 (2002)
 DOI:10.1212/WNL.58.6.941
 PMID:29507423 (SAMD12 TNRC6A RAPGEF2)
 著者        Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S
 タイトル      Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
 雑誌        Nat Genet 50:581-590 (2018)
 DOI:10.1038/s41588-018-0067-2
 PMID:31664034 (STARD7)
 著者        Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J
 タイトル      Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
 雑誌        Nat Commun 10:4920 (2019)
 DOI:10.1038/s41467-019-12671-y
 PMID:31664039 (MARCH6)
 著者        Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C
 タイトル      Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
 雑誌        Nat Commun 10:4919 (2019)
 DOI:10.1038/s41467-019-12763-9
 PMID:31539032 (YEATS2)
 著者        Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V
 タイトル      TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
 雑誌        Brain 142:3360-3366 (2019)
 DOI:10.1093/brain/awz267
 PMID:23518707 (CNTN2)
 著者        Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A
 タイトル      Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
 雑誌        Brain 136:1155-60 (2013)
 DOI:10.1093/brain/awt068","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02213"">H02213</a>",良性成人型家族性ミオクローヌスてんかん,"Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported.",,"(FAME1) SAMD12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:401474"">401474</a>]
 (FAME2) STARD7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56910"">56910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24141"">K24141</a>]
 (FAME3) MARCH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10299"">10299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10661"">K10661</a>]
 (FAME4) YEATS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55689"">55689</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24539"">K24539</a>]
 (FAME5) CNTN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6900"">6900</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06760"">K06760</a>]
 (FAME6) TNRC6A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27327"">27327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18412"">K18412</a>]
 (FAME7) RAPGEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9693"">9693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08018"">K08018</a>]",,,,,,"ICD-11: 8A61.32
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563399"">C563399</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564313"">C564313</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567098"">C567098</a>
 OMIM: <a href=""https://www.omim.org/entry/601068"">601068</a> <a href=""https://www.omim.org/entry/607876"">607876</a> <a href=""https://www.omim.org/entry/613608"">613608</a> <a href=""https://www.omim.org/entry/615127"">615127</a> <a href=""https://www.omim.org/entry/615400"">615400</a> <a href=""https://www.omim.org/entry/618074"">618074</a> <a href=""https://www.omim.org/entry/618075"">618075</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21850007"">21850007</a>
 著者        Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A
 タイトル      Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
 雑誌        J Hum Genet 56:742-7 (2011)
 DOI:<a href=""https://doi.org/10.1038/jhg.2011.93"">10.1038/jhg.2011.93</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11914412"">11914412</a>
 著者        Labauge P, Amer LO, Simonetta-Moreau M, Attane F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
 タイトル      Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
 雑誌        Neurology 58:941-4 (2002)
 DOI:<a href=""https://doi.org/10.1212/WNL.58.6.941"">10.1212/WNL.58.6.941</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29507423"">29507423</a> (SAMD12 <a href=""https://pubmed.ncbi.nlm.nih.gov/TNRC6A"">TNRC6A</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/RAPGEF2)"">RAPGEF2)</a>
 著者        Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S
 タイトル      Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
 雑誌        Nat Genet 50:581-590 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41588-018-0067-2"">10.1038/s41588-018-0067-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31664034"">31664034</a> (STARD7)
 著者        Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J
 タイトル      Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
 雑誌        Nat Commun 10:4920 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-12671-y"">10.1038/s41467-019-12671-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31664039"">31664039</a> (MARCH6)
 著者        Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C
 タイトル      Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
 雑誌        Nat Commun 10:4919 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-12763-9"">10.1038/s41467-019-12763-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31539032"">31539032</a> (YEATS2)
 著者        Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V
 タイトル      TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
 雑誌        Brain 142:3360-3366 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz267"">10.1093/brain/awz267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23518707"">23518707</a> (CNTN2)
 著者        Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A
 タイトル      Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
 雑誌        Brain 136:1155-60 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt068"">10.1093/brain/awt068</a>"
H02214,多様な焦点を示す家族性焦点性てんかん,,,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.",神経系疾患,,"(FFEVF1) DEPDC5 [HSA:9681] [KO:K20404]
 (FFEVF2) NPRL2 [HSA:10641] [KO:K20405]
 (FFEVF3) NPRL3 [HSA:8131] [KO:K20406]
 (FFEVF4) SCN3A [HSA:6328] [KO:K04836]",,,,,,"ICD-11: 8A61.4Y
 ICD-10: G40.1
 MeSH: D004828
 OMIM: 604364 617116 617118 617935","PMID:25623524
 著者        Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F
 タイトル      Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
 雑誌        Ann Neurol 77:675-83 (2015)
 DOI:10.1002/ana.24368
 PMID:26505888
 著者        Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM
 タイトル      Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
 雑誌        Ann Neurol 79:120-31 (2016)
 DOI:10.1002/ana.24547
 PMID:24157691
 著者        Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA
 タイトル      Novel SCN3A variants associated with focal epilepsy in children.
 雑誌        Neurobiol Dis 62:313-22 (2014)
 DOI:10.1016/j.nbd.2013.10.015
 PMID:23542697
 著者        Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-Lopez R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE
 タイトル      Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
 雑誌        Nat Genet 45:546-51 (2013)
 DOI:10.1038/ng.2599","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02214"">H02214</a>",多様な焦点を示す家族性焦点性てんかん,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.",,"(FFEVF1) DEPDC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9681"">9681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20404"">K20404</a>]
 (FFEVF2) NPRL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10641"">10641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20405"">K20405</a>]
 (FFEVF3) NPRL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8131"">8131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20406"">K20406</a>]
 (FFEVF4) SCN3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6328"">6328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04836"">K04836</a>]",,,,,,"ICD-11: 8A61.4Y
 ICD-10: G40.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004828"">D004828</a>
 OMIM: <a href=""https://www.omim.org/entry/604364"">604364</a> <a href=""https://www.omim.org/entry/617116"">617116</a> <a href=""https://www.omim.org/entry/617118"">617118</a> <a href=""https://www.omim.org/entry/617935"">617935</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25623524"">25623524</a>
 著者        Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F
 タイトル      Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
 雑誌        Ann Neurol 77:675-83 (2015)
 DOI:<a href=""https://doi.org/10.1002/ana.24368"">10.1002/ana.24368</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26505888"">26505888</a>
 著者        Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM
 タイトル      Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
 雑誌        Ann Neurol 79:120-31 (2016)
 DOI:<a href=""https://doi.org/10.1002/ana.24547"">10.1002/ana.24547</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24157691"">24157691</a>
 著者        Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA
 タイトル      Novel SCN3A variants associated with focal epilepsy in children.
 雑誌        Neurobiol Dis 62:313-22 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2013.10.015"">10.1016/j.nbd.2013.10.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23542697"">23542697</a>
 著者        Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-Lopez R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE
 タイトル      Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
 雑誌        Nat Genet 45:546-51 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2599"">10.1038/ng.2599</a>"
H02215,"小児欠神てんかん
 上位グループ    特発性全般てんかん [DS:H00808]",,,"Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences, which are brief episodes of loss of consciousness. It has been reported that mutations in several genes encoding subunits of the GABAA receptor are associated with this disease.",神経系疾患,,"(ECA2) GABRG2 [HSA:2566] [KO:K05186]
 (ECA4) GABRA1 [HSA:2554] [KO:K05175]
 (ECA5) GABRB3 [HSA:2562] [KO:K05181]
 (ECA6) CACNA1H [HSA:8912] [KO:K04855]",,,,,,"ICD-11: 8A61.21
 ICD-10: G40.3
 MeSH: D004832
 OMIM: 600131 607681 611136 612269 611942","PMID:11326275
 著者        Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF
 タイトル      Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
 雑誌        Nat Genet 28:49-52 (2001)
 DOI:10.1038/88259
 PMID:18514161
 著者        Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV
 タイトル      Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
 雑誌        Am J Hum Genet 82:1249-61 (2008)
 DOI:10.1016/j.ajhg.2008.04.020
 PMID:12891677
 著者        Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X
 タイトル      Association between genetic variation of CACNA1H and childhood absence epilepsy.
 雑誌        Ann Neurol 54:239-43 (2003)
 DOI:10.1002/ana.10607","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02215"">H02215</a>","小児欠神てんかん
 上位グループ    特発性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00808"">H00808</a>]","Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences, which are brief episodes of loss of consciousness. It has been reported that mutations in several genes encoding subunits of the GABAA receptor are associated with this disease.",,"(ECA2) GABRG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2566"">2566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05186"">K05186</a>]
 (ECA4) GABRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2554"">2554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (ECA5) GABRB3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2562"">2562</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05181"">K05181</a>]
 (ECA6) CACNA1H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8912"">8912</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04855"">K04855</a>]",,,,,,"ICD-11: 8A61.21
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004832"">D004832</a>
 OMIM: <a href=""https://www.omim.org/entry/600131"">600131</a> <a href=""https://www.omim.org/entry/607681"">607681</a> <a href=""https://www.omim.org/entry/611136"">611136</a> <a href=""https://www.omim.org/entry/612269"">612269</a> <a href=""https://www.omim.org/entry/611942"">611942</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11326275"">11326275</a>
 著者        Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF
 タイトル      Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
 雑誌        Nat Genet 28:49-52 (2001)
 DOI:<a href=""https://doi.org/10.1038/88259"">10.1038/88259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18514161"">18514161</a>
 著者        Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV
 タイトル      Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
 雑誌        Am J Hum Genet 82:1249-61 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.04.020"">10.1016/j.ajhg.2008.04.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12891677"">12891677</a>
 著者        Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X
 タイトル      Association between genetic variation of CACNA1H and childhood absence epilepsy.
 雑誌        Ann Neurol 54:239-43 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10607"">10.1002/ana.10607</a>"
H02216,"若年性欠神てんかん
 上位グループ    特発性全般てんかん [DS:H00808]",,,"Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The seizure onset is typically between 9 and 13 years of age.",神経系疾患,,"(EJA1) EFHC1 [HSA:114327] [KO:K23029]
 (EJA2) CLCN2 [HSA:1181] [KO:K05011]",,,,,,"ICD-11: 8A61.31
 ICD-10: G40.3
 MeSH: D004832
 OMIM: 607631 607628","PMID:17159113
 著者        Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A
 タイトル      Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
 雑誌        Neurology 67:2029-31 (2006)
 DOI:10.1212/01.wnl.0000250254.67042.1b
 PMID:24684814
 著者        Danhofer P, Brazdil M, Oslejskova H, Kuba R
 タイトル      Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center.
 雑誌        Seizure 23:443-7 (2014)
 DOI:10.1016/j.seizure.2014.03.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02216"">H02216</a>","若年性欠神てんかん
 上位グループ    特発性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00808"">H00808</a>]","Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The seizure onset is typically between 9 and 13 years of age.",,"(EJA1) EFHC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114327"">114327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23029"">K23029</a>]
 (EJA2) CLCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1181"">1181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05011"">K05011</a>]",,,,,,"ICD-11: 8A61.31
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004832"">D004832</a>
 OMIM: <a href=""https://www.omim.org/entry/607631"">607631</a> <a href=""https://www.omim.org/entry/607628"">607628</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17159113"">17159113</a>
 著者        Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A
 タイトル      Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
 雑誌        Neurology 67:2029-31 (2006)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000250254.67042.1b"">10.1212/01.wnl.0000250254.67042.1b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24684814"">24684814</a>
 著者        Danhofer P, Brazdil M, Oslejskova H, Kuba R
 タイトル      Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center.
 雑誌        Seizure 23:443-7 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.seizure.2014.03.002"">10.1016/j.seizure.2014.03.002</a>"
H02217,"若年性ミオクローヌスてんかん
 上位グループ    特発性全般てんかん [DS:H00808]",,,"Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks, predominantly in the arms. No disturbance of consciousness is noticeable. Response to appropriate drugs is good.",神経系疾患,,"(EJM1) EFHC1 [HSA:114327] [KO:K23029]
 (EJM5) GABRA1 [HSA:2554] [KO:K05175]
 (EJM6) CACNB4 [HSA:785] [KO:K04865]
 (EJM7) GABRD [HSA:2563] [KO:K05184]
 (EJM8) CLCN2 [HSA:1181] [KO:K05011]
 (EJM10) ICK [HSA:22858] [KO:K08828]",,,,,,"ICD-11: 8A61.30
 ICD-10: G40.3
 MeSH: D020190
 OMIM: 254770 611136 607682 613060 607628 617924","PMID:26088880
 著者        Wolf P, Yacubian EM, Avanzini G, Sander T, Schmitz B, Wandschneider B, Koepp M
 タイトル      Juvenile myoclonic epilepsy: A system disorder of the brain.
 雑誌        Epilepsy Res 114:2-12 (2015)
 DOI:10.1016/j.eplepsyres.2015.04.008
 PMID:15258581
 著者        Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K
 タイトル      Mutations in EFHC1 cause juvenile myoclonic epilepsy.
 雑誌        Nat Genet 36:842-9 (2004)
 DOI:10.1038/ng1393
 PMID:11992121
 著者        Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA
 タイトル      Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
 雑誌        Nat Genet 31:184-9 (2002)
 DOI:10.1038/ng885
 PMID:29539279
 著者        Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Duron RM, Nguyen VH, Wight JE, Martinez-Juarez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, Lopez-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV
 タイトル      Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
 雑誌        N Engl J Med 378:1018-1028 (2018)
 DOI:10.1056/NEJMoa1700175","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02217"">H02217</a>","若年性ミオクローヌスてんかん
 上位グループ    特発性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00808"">H00808</a>]","Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks, predominantly in the arms. No disturbance of consciousness is noticeable. Response to appropriate drugs is good.",,"(EJM1) EFHC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114327"">114327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23029"">K23029</a>]
 (EJM5) GABRA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2554"">2554</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05175"">K05175</a>]
 (EJM6) CACNB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:785"">785</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04865"">K04865</a>]
 (EJM7) GABRD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2563"">2563</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05184"">K05184</a>]
 (EJM8) CLCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1181"">1181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05011"">K05011</a>]
 (EJM10) ICK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22858"">22858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08828"">K08828</a>]",,,,,,"ICD-11: 8A61.30
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020190"">D020190</a>
 OMIM: <a href=""https://www.omim.org/entry/254770"">254770</a> <a href=""https://www.omim.org/entry/611136"">611136</a> <a href=""https://www.omim.org/entry/607682"">607682</a> <a href=""https://www.omim.org/entry/613060"">613060</a> <a href=""https://www.omim.org/entry/607628"">607628</a> <a href=""https://www.omim.org/entry/617924"">617924</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26088880"">26088880</a>
 著者        Wolf P, Yacubian EM, Avanzini G, Sander T, Schmitz B, Wandschneider B, Koepp M
 タイトル      Juvenile myoclonic epilepsy: A system disorder of the brain.
 雑誌        Epilepsy Res 114:2-12 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.eplepsyres.2015.04.008"">10.1016/j.eplepsyres.2015.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15258581"">15258581</a>
 著者        Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K
 タイトル      Mutations in EFHC1 cause juvenile myoclonic epilepsy.
 雑誌        Nat Genet 36:842-9 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1393"">10.1038/ng1393</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11992121"">11992121</a>
 著者        Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA
 タイトル      Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
 雑誌        Nat Genet 31:184-9 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng885"">10.1038/ng885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29539279"">29539279</a>
 著者        Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Duron RM, Nguyen VH, Wight JE, Martinez-Juarez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, Lopez-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV
 タイトル      Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
 雑誌        N Engl J Med 378:1018-1028 (2018)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1700175"">10.1056/NEJMoa1700175</a>"
H02218,"DOORS 症候群;
 Eronen 症候群;
 指腎脳症候群",,,"DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. As a probable cause of DOORS syndrome, mutations in TBC1D24 have been identified.",先天奇形,,TBC1D24 [HSA:57465] [KO:K21841],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C563052
 OMIM: 220500","PMID:17994565
 著者        James AW, Miranda SG, Culver K, Hall BD, Golabi M
 タイトル      DOOR syndrome: clinical report, literature review and discussion of natural history.
 雑誌        Am J Med Genet A 143A:2821-31 (2007)
 DOI:10.1002/ajmg.a.32054
 PMID:24291220
 著者        Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Felix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM
 タイトル      The genetic basis of DOORS syndrome: an exome-sequencing study.
 雑誌        Lancet Neurol 13:44-58 (2014)
 DOI:10.1016/S1474-4422(13)70265-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02218"">H02218</a>","DOORS 症候群;
 Eronen 症候群;
 指腎脳症候群","DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. As a probable cause of DOORS syndrome, mutations in TBC1D24 have been identified.",,"TBC1D24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57465"">57465</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21841"">K21841</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563052"">C563052</a>
 OMIM: <a href=""https://www.omim.org/entry/220500"">220500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17994565"">17994565</a>
 著者        James AW, Miranda SG, Culver K, Hall BD, Golabi M
 タイトル      DOOR syndrome: clinical report, literature review and discussion of natural history.
 雑誌        Am J Med Genet A 143A:2821-31 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32054"">10.1002/ajmg.a.32054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24291220"">24291220</a>
 著者        Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Felix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM
 タイトル      The genetic basis of DOORS syndrome: an exome-sequencing study.
 雑誌        Lancet Neurol 13:44-58 (2014)
 DOI:<a href=""https://doi.org/10.1016/S1474-4422(13)70265-5"">10.1016/S1474-4422(13)70265-5</a>"
H02219,"DDOD 症候群;
 優性遺伝性難聴・爪ジストロフィー",,,Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome have normal development and cognitive functions. It has been suggested that de novo mutation in ATP6V1B2 impairs lysosome acidification and causes DDOD.,先天奇形,,ATP6B1B2 [HSA:526] [KO:K02147],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C567274
 OMIM: 124480","PMID:28396750
 著者        Menendez I, Carranza C, Herrera M, Marroquin N, Foster J 2nd, Cengiz FB, Bademci G, Tekin M
 タイトル      Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
 雑誌        Clin Case Rep 5:376-379 (2017)
 DOI:10.1002/ccr3.761
 PMID:24913193
 著者        Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P
 タイトル      De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
 雑誌        Cell Res 24:1370-3 (2014)
 DOI:10.1038/cr.2014.77","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02219"">H02219</a>","DDOD 症候群;
 優性遺伝性難聴・爪ジストロフィー",Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome have normal development and cognitive functions. It has been suggested that de novo mutation in ATP6V1B2 impairs lysosome acidification and causes DDOD.,,"ATP6B1B2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:526"">526</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02147"">K02147</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567274"">C567274</a>
 OMIM: <a href=""https://www.omim.org/entry/124480"">124480</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28396750"">28396750</a>
 著者        Menendez I, Carranza C, Herrera M, Marroquin N, Foster J 2nd, Cengiz FB, Bademci G, Tekin M
 タイトル      Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
 雑誌        Clin Case Rep 5:376-379 (2017)
 DOI:<a href=""https://doi.org/10.1002/ccr3.761"">10.1002/ccr3.761</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24913193"">24913193</a>
 著者        Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P
 タイトル      De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
 雑誌        Cell Res 24:1370-3 (2014)
 DOI:<a href=""https://doi.org/10.1038/cr.2014.77"">10.1038/cr.2014.77</a>"
H02220,"MEDNIK 症候群;
 変異性紅斑角皮症 3型",,,"MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene mutations, encoding the subunit of the AP-1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane.",先天奇形,,AP1S1 [HSA:1174] [KO:K12394],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q82.8
 OMIM: 609313","PMID:19057675
 著者        Montpetit A, Cote S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P
 タイトル      Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
 雑誌        PLoS Genet 4:e1000296 (2008)
 DOI:10.1371/journal.pgen.1000296
 PMID:23423674
 著者        Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C
 タイトル      MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
 雑誌        Brain 136:872-81 (2013)
 DOI:10.1093/brain/awt012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02220"">H02220</a>","MEDNIK 症候群;
 変異性紅斑角皮症 3型","MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene mutations, encoding the subunit of the AP-1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane.",,"AP1S1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1174"">1174</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12394"">K12394</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/609313"">609313</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19057675"">19057675</a>
 著者        Montpetit A, Cote S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P
 タイトル      Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
 雑誌        PLoS Genet 4:e1000296 (2008)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1000296"">10.1371/journal.pgen.1000296</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23423674"">23423674</a>
 著者        Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C
 タイトル      MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
 雑誌        Brain 136:872-81 (2013)
 DOI:<a href=""https://doi.org/10.1093/brain/awt012"">10.1093/brain/awt012</a>"
H02221,"メチルマロン酸尿症およびホモシスチン尿症
 下位グループ    メチルマロン酸血症およびホモシスチン血症 cblX 型 [DS:H02222]
 上位グループ    メチルマロン酸尿症 [DS:H00174]
 二次性高アンモニア血症 [DS:H01400]",,,"Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.",先天性代謝異常症,,"(MAHCF) LMBRD1 [HSA:55788] [KO:K14617]
 (MAHCC) MMACHC [HSA:25974] [KO:K14618]
 (MAHCC) PRDX1 [HSA:5052] [KO:K13279]
 (MAHCD) MMADHC [HSA:27249]
 (MAHCJ) ABCD4 [HSA:5826] [KO:K05678]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: C537359
 OMIM: 277380 277400 277410 614857","PMID:21312325
 著者        Watkins D, Rosenblatt DS
 タイトル      Inborn errors of cobalamin absorption and metabolism.
 雑誌        Am J Med Genet C Semin Med Genet 157C:33-44 (2011)
 DOI:10.1002/ajmg.c.30288
 PMID:21910240
 著者        Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S
 タイトル      Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.
 雑誌        Am J Med Genet A 155A:2571-7 (2011)
 DOI:10.1002/ajmg.a.34220
 PMID:29302025
 著者        Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS
 タイトル      APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
 雑誌        Nat Commun 9:67 (2018)
 DOI:10.1038/s41467-017-02306-5
 PMID:18385497
 著者        Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B
 タイトル      Gene identification for the cblD defect of vitamin B12 metabolism.
 雑誌        N Engl J Med 358:1454-64 (2008)
 DOI:10.1056/NEJMoa072200
 PMID:22922874
 著者        Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
 タイトル      Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
 雑誌        Nat Genet 44:1152-5 (2012)
 DOI:10.1038/ng.2386","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02221"">H02221</a>","メチルマロン酸尿症およびホモシスチン尿症
 下位グループ    メチルマロン酸血症およびホモシスチン血症 cblX 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02222"">H02222</a>]
 上位グループ    メチルマロン酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00174"">H00174</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.",,"(MAHCF) LMBRD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55788"">55788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14617"">K14617</a>]
 (MAHCC) MMACHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25974"">25974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14618"">K14618</a>]
 (MAHCC) PRDX1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5052"">5052</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13279"">K13279</a>]
 (MAHCD) MMADHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27249"">27249</a>]
 (MAHCJ) ABCD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5826"">5826</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05678"">K05678</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537359"">C537359</a>
 OMIM: <a href=""https://www.omim.org/entry/277380"">277380</a> <a href=""https://www.omim.org/entry/277400"">277400</a> <a href=""https://www.omim.org/entry/277410"">277410</a> <a href=""https://www.omim.org/entry/614857"">614857</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21312325"">21312325</a>
 著者        Watkins D, Rosenblatt DS
 タイトル      Inborn errors of cobalamin absorption and metabolism.
 雑誌        Am J Med Genet C Semin Med Genet 157C:33-44 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.30288"">10.1002/ajmg.c.30288</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21910240"">21910240</a>
 著者        Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S
 タイトル      Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.
 雑誌        Am J Med Genet A 155A:2571-7 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34220"">10.1002/ajmg.a.34220</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29302025"">29302025</a>
 著者        Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS
 タイトル      APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
 雑誌        Nat Commun 9:67 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41467-017-02306-5"">10.1038/s41467-017-02306-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18385497"">18385497</a>
 著者        Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B
 タイトル      Gene identification for the cblD defect of vitamin B12 metabolism.
 雑誌        N Engl J Med 358:1454-64 (2008)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa072200"">10.1056/NEJMoa072200</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22922874"">22922874</a>
 著者        Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
 タイトル      Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
 雑誌        Nat Genet 44:1152-5 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2386"">10.1038/ng.2386</a>"
H02222,"メチルマロン酸血症および高ホモシステイン血症 cblX 型
 上位グループ    X連鎖精神遅滞症候群 [DS:H00658]
 メチルマロン酸尿症およびホモシスチン尿症 [DS:H02221]
 メチルマロン酸尿症 [DS:H00174]
 二次性高アンモニア血症 [DS:H01400]",,,"Methylmalonic acidemia and hyperhomocysteinemia (MAHC) cblX type is X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia. The clinical symptoms are similar to MAHC cblC type, that is caused by mutations in MMACHC gene. They can feature neurologic, renal, cardiac, hematologic, and ophthalmologic manifestations. MAHC cblX type is caused by mutations in transcriptional coregulator HCFC1. Functional analysis implicated HCFC1 in transcriptional regulation of MMACHC.",先天性代謝異常症,,HCFC1 [HSA:3054] [KO:K14966],,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 OMIM: 309541","PMID:24011988
 著者        Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH
 タイトル      An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
 雑誌        Am J Hum Genet 93:506-14 (2013)
 DOI:10.1016/j.ajhg.2013.07.022
 PMID:23000143
 著者        Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
 タイトル      A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 91:694-702 (2012)
 DOI:10.1016/j.ajhg.2012.08.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02222"">H02222</a>","メチルマロン酸血症および高ホモシステイン血症 cblX 型
 上位グループ    X連鎖精神遅滞症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00658"">H00658</a>]
 メチルマロン酸尿症およびホモシスチン尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02221"">H02221</a>]
 メチルマロン酸尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00174"">H00174</a>]
 二次性高アンモニア血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01400"">H01400</a>]","Methylmalonic acidemia and hyperhomocysteinemia (MAHC) cblX type is X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia. The clinical symptoms are similar to MAHC cblC type, that is caused by mutations in MMACHC gene. They can feature neurologic, renal, cardiac, hematologic, and ophthalmologic manifestations. MAHC cblX type is caused by mutations in transcriptional coregulator HCFC1. Functional analysis implicated HCFC1 in transcriptional regulation of MMACHC.",,"HCFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3054"">3054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14966"">K14966</a>]",,,,,,"ICD-11: 5C50.E0
 ICD-10: E71.1
 OMIM: <a href=""https://www.omim.org/entry/309541"">309541</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24011988"">24011988</a>
 著者        Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH
 タイトル      An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
 雑誌        Am J Hum Genet 93:506-14 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.022"">10.1016/j.ajhg.2013.07.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23000143"">23000143</a>
 著者        Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
 タイトル      A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
 雑誌        Am J Hum Genet 91:694-702 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.08.011"">10.1016/j.ajhg.2012.08.011</a>"
H02223,"骨頭蓋骨狭窄症;
 Gracile bone dysplasia",,,"Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. It has been reported that individuals with GCLEB had mutations in FAM111A.",先天奇形,,FAM111A [HSA:63901] [KO:K24274],,,,,,"ICD-11: LD24.D
 ICD-10: Q78.0
 MeSH: C537291
 OMIM: 602361","PMID:19006220
 著者        Nyholm JL, Lindor NM, Thomas KB, Brost BC
 タイトル      Slender bone dysplasia (gracile).
 雑誌        Am J Med Genet A 146A:3234-6 (2008)
 DOI:10.1002/ajmg.a.31979
 PMID:23684011
 著者        Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A
 タイトル      FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
 雑誌        Am J Hum Genet 92:990-5 (2013)
 DOI:10.1016/j.ajhg.2013.04.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02223"">H02223</a>","骨頭蓋骨狭窄症;
 Gracile bone dysplasia","Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. It has been reported that individuals with GCLEB had mutations in FAM111A.",,"FAM111A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63901"">63901</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24274"">K24274</a>]",,,,,,"ICD-11: LD24.D
 ICD-10: Q78.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537291"">C537291</a>
 OMIM: <a href=""https://www.omim.org/entry/602361"">602361</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19006220"">19006220</a>
 著者        Nyholm JL, Lindor NM, Thomas KB, Brost BC
 タイトル      Slender bone dysplasia (gracile).
 雑誌        Am J Med Genet A 146A:3234-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31979"">10.1002/ajmg.a.31979</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23684011"">23684011</a>
 著者        Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A
 タイトル      FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
 雑誌        Am J Hum Genet 92:990-5 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.020"">10.1016/j.ajhg.2013.04.020</a>"
H02224,Grange 症候群,,,"Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.",先天奇形,,YY1AP1 [HSA:55249] [KO:K23803],,,,,,"ICD-11: LD28.Y
 ICD-10: Q87.8
 MeSH: C566529
 OMIM: 602531","PMID:27939641
 著者        Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM
 タイトル      Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
 雑誌        Am J Hum Genet 100:21-30 (2017)
 DOI:10.1016/j.ajhg.2016.11.008
 PMID:16691574
 著者        Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K
 タイトル      A new case of Grange syndrome without cardiac findings.
 雑誌        Am J Med Genet A 140:1316-20 (2006)
 DOI:10.1002/ajmg.a.31125","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02224"">H02224</a>",Grange 症候群,"Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.",,"YY1AP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55249"">55249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23803"">K23803</a>]",,,,,,"ICD-11: LD28.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566529"">C566529</a>
 OMIM: <a href=""https://www.omim.org/entry/602531"">602531</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27939641"">27939641</a>
 著者        Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM
 タイトル      Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
 雑誌        Am J Hum Genet 100:21-30 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.008"">10.1016/j.ajhg.2016.11.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16691574"">16691574</a>
 著者        Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K
 タイトル      A new case of Grange syndrome without cardiac findings.
 雑誌        Am J Med Genet A 140:1316-20 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31125"">10.1002/ajmg.a.31125</a>"
H02225,"家族性肝硬変
 下位グループ    特発性銅中毒症",,,"Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. The well-documented causes of familial cirrhosis are mutations of keratin 8 and 18 gene. They are the cytoskeletal intermediate filament proteins of hepatocytes, and protect the liver from various forms of injury. It has been shown that KRT8 or KRT18 mutations predispose the liver to acute or subacute injury and promote apoptosis and fibrosis.",消化器系疾患,,"KRT8 [HSA:3856] [KO:K07605]
 KRT18 [HSA:3875] [KO:K07604]",,,,,,"ICD-11: DB93.21
 ICD-10: K74.6
 OMIM: 215600","PMID:15495250
 著者        Zatloukal K, Stumptner C, Fuchsbichler A, Fickert P, Lackner C, Trauner M, Denk H
 タイトル      The keratin cytoskeleton in liver diseases.
 雑誌        J Pathol 204:367-76 (2004)
 DOI:10.1002/path.1649
 PMID:17969036
 著者        Ku NO, Strnad P, Zhong BH, Tao GZ, Omary MB
 タイトル      Keratins let liver live: Mutations predispose to liver disease and crosslinking generates Mallory-Denk bodies.
 雑誌        Hepatology 46:1639-49 (2007)
 DOI:10.1002/hep.21976
 PMID:12724528
 著者        Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB
 タイトル      Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.
 雑誌        Proc Natl Acad Sci U S A 100:6063-8 (2003)
 DOI:10.1073/pnas.0936165100
 PMID:31695254
 著者        Abby Philips C, Agarwal M, Phadke N, Rajesh S, Padsalgi G, Ahamed R, Augustine P
 タイトル      A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
 雑誌        J Clin Exp Hepatol 9:652-656 (2019)
 DOI:10.1016/j.jceh.2019.02.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02225"">H02225</a>","家族性肝硬変
 下位グループ    特発性銅中毒症","Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. The well-documented causes of familial cirrhosis are mutations of keratin 8 and 18 gene. They are the cytoskeletal intermediate filament proteins of hepatocytes, and protect the liver from various forms of injury. It has been shown that KRT8 or KRT18 mutations predispose the liver to acute or subacute injury and promote apoptosis and fibrosis.",,"KRT8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3856"">3856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3875"">3875</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: DB93.21
 ICD-10: K74.6
 OMIM: <a href=""https://www.omim.org/entry/215600"">215600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15495250"">15495250</a>
 著者        Zatloukal K, Stumptner C, Fuchsbichler A, Fickert P, Lackner C, Trauner M, Denk H
 タイトル      The keratin cytoskeleton in liver diseases.
 雑誌        J Pathol 204:367-76 (2004)
 DOI:<a href=""https://doi.org/10.1002/path.1649"">10.1002/path.1649</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17969036"">17969036</a>
 著者        Ku NO, Strnad P, Zhong BH, Tao GZ, Omary MB
 タイトル      Keratins let liver live: Mutations predispose to liver disease and crosslinking generates Mallory-Denk bodies.
 雑誌        Hepatology 46:1639-49 (2007)
 DOI:<a href=""https://doi.org/10.1002/hep.21976"">10.1002/hep.21976</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12724528"">12724528</a>
 著者        Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB
 タイトル      Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.
 雑誌        Proc Natl Acad Sci U S A 100:6063-8 (2003)
 DOI:<a href=""https://doi.org/10.1073/pnas.0936165100"">10.1073/pnas.0936165100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31695254"">31695254</a>
 著者        Abby Philips C, Agarwal M, Phadke N, Rajesh S, Padsalgi G, Ahamed R, Augustine P
 タイトル      A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
 雑誌        J Clin Exp Hepatol 9:652-656 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jceh.2019.02.002"">10.1016/j.jceh.2019.02.002</a>"
H02226,"心脊椎手根骨顔症候群;
 Forney 症候群",,,"Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. It has been reported that mutations in MAP3K7, encoding TGF-beta-activated kinase 1 (TAK1), cause this disease.",先天奇形,,MAP3K7 [HSA:6885] [KO:K04427],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.5
 OMIM: 157800","PMID:27426734
 著者        Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V
 タイトル      Heterozygous Mutations in MAP3K7, Encoding TGF-beta-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
 雑誌        Am J Hum Genet 99:407-13 (2016)
 DOI:10.1016/j.ajhg.2016.06.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02226"">H02226</a>","心脊椎手根骨顔症候群;
 Forney 症候群","Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. It has been reported that mutations in MAP3K7, encoding TGF-beta-activated kinase 1 (TAK1), cause this disease.",,"MAP3K7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6885"">6885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04427"">K04427</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.5
 OMIM: <a href=""https://www.omim.org/entry/157800"">157800</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27426734"">27426734</a>
 著者        Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V
 タイトル      Heterozygous Mutations in MAP3K7, Encoding TGF-beta-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
 雑誌        Am J Hum Genet 99:407-13 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.005"">10.1016/j.ajhg.2016.06.005</a>"
H02227,前頭・骨幹端異形成症,,,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.",先天奇形,,"(FMD1) FLNA [HSA:2316] [KO:K04437]
 (FMD2) MAP3K7 [HSA:6885] [KO:K04427]",,,,,,"ICD-11: LD25.1
 ICD-10: Q78.5
 MeSH: C538064
 OMIM: 305620 617137","PMID:16835913
 著者        Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D
 タイトル      Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
 雑誌        Am J Med Genet A 140:1726-36 (2006)
 DOI:10.1002/ajmg.a.31322
 PMID:27426733
 著者        Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP
 タイトル      Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
 雑誌        Am J Hum Genet 99:392-406 (2016)
 DOI:10.1016/j.ajhg.2016.05.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02227"">H02227</a>",前頭・骨幹端異形成症,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.",,"(FMD1) FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]
 (FMD2) MAP3K7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6885"">6885</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04427"">K04427</a>]",,,,,,"ICD-11: LD25.1
 ICD-10: Q78.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538064"">C538064</a>
 OMIM: <a href=""https://www.omim.org/entry/305620"">305620</a> <a href=""https://www.omim.org/entry/617137"">617137</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16835913"">16835913</a>
 著者        Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D
 タイトル      Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
 雑誌        Am J Med Genet A 140:1726-36 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31322"">10.1002/ajmg.a.31322</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27426733"">27426733</a>
 著者        Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP
 タイトル      Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
 雑誌        Am J Hum Genet 99:392-406 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.024"">10.1016/j.ajhg.2016.05.024</a>"
H02228,先端短肢異形成症,,,"Acromicric dysplasia is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible for this disease.",先天奇形,,FBN1 [HSA:2200] [KO:K06825],,,,,,"ICD-11: LD24.8Y
 ICD-10: Q77.8
 MeSH: C535662
 OMIM: 102370","PMID:11694546
 著者        Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V
 タイトル      Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
 雑誌        J Med Genet 38:745-9 (2001)
 DOI:10.1136/jmg.38.11.745
 PMID:21683322
 著者        Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
 タイトル      Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
 雑誌        Am J Hum Genet 89:7-14 (2011)
 DOI:10.1016/j.ajhg.2011.05.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02228"">H02228</a>",先端短肢異形成症,"Acromicric dysplasia is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible for this disease.",,"FBN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2200"">2200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06825"">K06825</a>]",,,,,,"ICD-11: LD24.8Y
 ICD-10: Q77.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535662"">C535662</a>
 OMIM: <a href=""https://www.omim.org/entry/102370"">102370</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11694546"">11694546</a>
 著者        Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V
 タイトル      Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
 雑誌        J Med Genet 38:745-9 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.11.745"">10.1136/jmg.38.11.745</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21683322"">21683322</a>
 著者        Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
 タイトル      Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
 雑誌        Am J Hum Genet 89:7-14 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.012"">10.1016/j.ajhg.2011.05.012</a>"
H02229,"肢端骨異形成;
 肢端骨異形成および色素異常",,,"Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene.",先天奇形,,FLNA [HSA:2316] [KO:K04437],,,,,,"ICD-11: LD24.8Y
 ICD-10: Q87.2
 MeSH: C564554
 OMIM: 300244","PMID:17152064
 著者        Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B
 タイトル      Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.
 雑誌        Am J Med Genet A 143A:51-7 (2007)
 DOI:10.1002/ajmg.a.31557
 PMID:20598277
 著者        Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH
 タイトル      Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
 雑誌        Am J Hum Genet 87:146-53 (2010)
 DOI:10.1016/j.ajhg.2010.06.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02229"">H02229</a>","肢端骨異形成;
 肢端骨異形成および色素異常","Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene.",,"FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LD24.8Y
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564554"">C564554</a>
 OMIM: <a href=""https://www.omim.org/entry/300244"">300244</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17152064"">17152064</a>
 著者        Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B
 タイトル      Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.
 雑誌        Am J Med Genet A 143A:51-7 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31557"">10.1002/ajmg.a.31557</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20598277"">20598277</a>
 著者        Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH
 タイトル      Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
 雑誌        Am J Hum Genet 87:146-53 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.06.008"">10.1016/j.ajhg.2010.06.008</a>"
H02230,"Ｘ連鎖心臓弁異形成;
 Ｘ連鎖粘液腫性心臓弁ジストロフィー
 上位グループ    僧帽弁逸脱症 [DS:H01868]",,,"X-linked cardiac valvular dysplasia is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.",先天奇形,,FLNA [HSA:2316] [KO:K04437],,,,,,"ICD-11: LA87
 ICD-10: Q24.8
 MeSH: C535576
 OMIM: 314400","PMID:17190868
 著者        Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
 タイトル      Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
 雑誌        Circulation 115:40-9 (2007)
 DOI:10.1161/CIRCULATIONAHA.106.622621
 PMID:10841240
 著者        Trochu JN, Kyndt F, Schott JJ, Gueffet JP, Probst V, Benichou B, Le Marec H
 タイトル      Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.
 雑誌        J Am Coll Cardiol 35:1890-7 (2000)
 DOI:10.1016/S0735-1097(00)00617-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02230"">H02230</a>","Ｘ連鎖心臓弁異形成;
 Ｘ連鎖粘液腫性心臓弁ジストロフィー
 上位グループ    僧帽弁逸脱症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01868"">H01868</a>]","X-linked cardiac valvular dysplasia is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.",,"FLNA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2316"">2316</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04437"">K04437</a>]",,,,,,"ICD-11: LA87
 ICD-10: Q24.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535576"">C535576</a>
 OMIM: <a href=""https://www.omim.org/entry/314400"">314400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17190868"">17190868</a>
 著者        Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
 タイトル      Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
 雑誌        Circulation 115:40-9 (2007)
 DOI:<a href=""https://doi.org/10.1161/CIRCULATIONAHA.106.622621"">10.1161/CIRCULATIONAHA.106.622621</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10841240"">10841240</a>
 著者        Trochu JN, Kyndt F, Schott JJ, Gueffet JP, Probst V, Benichou B, Le Marec H
 タイトル      Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.
 雑誌        J Am Coll Cardiol 35:1890-7 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0735-1097(00)00617-3"">10.1016/S0735-1097(00)00617-3</a>"
H02231,網膜や黄斑の変性を伴う視神経乳頭異常,,,Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.,先天奇形,,SIX6 [HSA:4990] [KO:K19473],,,,,,"ICD-11: LA13.8
 ICD-10: Q14.8
 MeSH: C567024
 OMIM: 212550","PMID:24702266
 著者        Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Ozbek MN, Farooq A, Goldberg J, Tekin M
 タイトル      A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
 雑誌        Clin Genet 87:192-5 (2015)
 DOI:10.1111/cge.12374
 PMID:23167593
 著者        Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS
 タイトル      Homozygous truncation of SIX6 causes complex microphthalmia in humans.
 雑誌        Clin Genet 84:198-9 (2013)
 DOI:10.1111/cge.12046","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02231"">H02231</a>",網膜や黄斑の変性を伴う視神経乳頭異常,Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.,,"SIX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4990"">4990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19473"">K19473</a>]",,,,,,"ICD-11: LA13.8
 ICD-10: Q14.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567024"">C567024</a>
 OMIM: <a href=""https://www.omim.org/entry/212550"">212550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24702266"">24702266</a>
 著者        Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Ozbek MN, Farooq A, Goldberg J, Tekin M
 タイトル      A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
 雑誌        Clin Genet 87:192-5 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12374"">10.1111/cge.12374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23167593"">23167593</a>
 著者        Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS
 タイトル      Homozygous truncation of SIX6 causes complex microphthalmia in humans.
 雑誌        Clin Genet 84:198-9 (2013)
 DOI:<a href=""https://doi.org/10.1111/cge.12046"">10.1111/cge.12046</a>"
H02232,"CAGSSS 症候群;
 白内障・成長ホルモン分泌不全症・感覚ニューロパチー・感音性難聴および骨異形成症",,,"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in IARS2 are associated with this disease. IARS2 encodes the mitochondrial isoleucine-tRNA synthetase.",先天奇形,,IARS2 [HSA:55699] [KO:K01870],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616007","PMID:28328135
 著者        Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmuller J, Thiele H, Nurnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I
 タイトル      Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
 雑誌        Am J Med Genet A 173:1102-1108 (2017)
 DOI:10.1002/ajmg.a.38116
 PMID:25771765
 著者        Samuels ME, Alos N, Deal CL
 タイトル      Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
 雑誌        Hum Mutat 36:389 (2015)
 DOI:10.1002/humu.22752","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02232"">H02232</a>","CAGSSS 症候群;
 白内障・成長ホルモン分泌不全症・感覚ニューロパチー・感音性難聴および骨異形成症","Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in IARS2 are associated with this disease. IARS2 encodes the mitochondrial isoleucine-tRNA synthetase.",,"IARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55699"">55699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01870"">K01870</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616007"">616007</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28328135"">28328135</a>
 著者        Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmuller J, Thiele H, Nurnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I
 タイトル      Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
 雑誌        Am J Med Genet A 173:1102-1108 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38116"">10.1002/ajmg.a.38116</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25771765"">25771765</a>
 著者        Samuels ME, Alos N, Deal CL
 タイトル      Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
 雑誌        Hum Mutat 36:389 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22752"">10.1002/humu.22752</a>"
H02233,Alazami 症候群,,,"Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause this syndrome.",先天奇形,,LARP7 [HSA:51574] [KO:K15191],,,,,,"ICD-11: LD24.Y
 ICD-10: Q87.1
 OMIM: 615071","PMID:22865833
 著者        Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS
 タイトル      Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
 雑誌        Hum Mutat 33:1429-34 (2012)
 DOI:10.1002/humu.22175
 PMID:26374271
 著者        Ling TT, Sorrentino S
 タイトル      Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
 雑誌        Am J Med Genet A 170A:217-9 (2016)
 DOI:10.1002/ajmg.a.37396","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02233"">H02233</a>",Alazami 症候群,"Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause this syndrome.",,"LARP7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51574"">51574</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15191"">K15191</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/615071"">615071</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22865833"">22865833</a>
 著者        Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS
 タイトル      Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
 雑誌        Hum Mutat 33:1429-34 (2012)
 DOI:<a href=""https://doi.org/10.1002/humu.22175"">10.1002/humu.22175</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26374271"">26374271</a>
 著者        Ling TT, Sorrentino S
 タイトル      Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
 雑誌        Am J Med Genet A 170A:217-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37396"">10.1002/ajmg.a.37396</a>"
H02234,Hamamy 症候群,,,"Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.",先天奇形,,IRX5 [HSA:10265] [KO:K24889],,,,,,"ICD-11: LD25.Y
 ICD-10: Q87.0
 OMIM: 611174","PMID:22581230
 著者        Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Guran T, Kayserili H, Hamamy H, Reversade B
 タイトル      Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
 雑誌        Nat Genet 44:709-13 (2012)
 DOI:10.1038/ng.2259
 PMID:17230486
 著者        Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM
 タイトル      Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
 雑誌        Am J Med Genet A 143A:229-34 (2007)
 DOI:10.1002/ajmg.a.31594","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02234"">H02234</a>",Hamamy 症候群,"Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.",,"IRX5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10265"">10265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24889"">K24889</a>]",,,,,,"ICD-11: LD25.Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/611174"">611174</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22581230"">22581230</a>
 著者        Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Guran T, Kayserili H, Hamamy H, Reversade B
 タイトル      Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
 雑誌        Nat Genet 44:709-13 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2259"">10.1038/ng.2259</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17230486"">17230486</a>
 著者        Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM
 タイトル      Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
 雑誌        Am J Med Genet A 143A:229-34 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31594"">10.1002/ajmg.a.31594</a>"
H02235,病的肥満および精子形成不全,,,"Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, has been identified in patients.",内分泌代謝疾患,,CEP19 [HSA:84984] [KO:K16801],,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: D009767
 OMIM: 615703","PMID:24268657
 著者        Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA
 タイトル      Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
 雑誌        Am J Hum Genet 93:1061-71 (2013)
 DOI:10.1016/j.ajhg.2013.10.025
 PMID:29127258
 著者        Yildiz Bolukbasi E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A
 タイトル      Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
 雑誌        J Med Genet 55:189-197 (2018)
 DOI:10.1136/jmedgenet-2017-104758","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02235"">H02235</a>",病的肥満および精子形成不全,"Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, has been identified in patients.",,"CEP19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84984"">84984</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16801"">K16801</a>]",,,,,,"ICD-11: 5B81.Y
 ICD-10: E66.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009767"">D009767</a>
 OMIM: <a href=""https://www.omim.org/entry/615703"">615703</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24268657"">24268657</a>
 著者        Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA
 タイトル      Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
 雑誌        Am J Hum Genet 93:1061-71 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.025"">10.1016/j.ajhg.2013.10.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29127258"">29127258</a>
 著者        Yildiz Bolukbasi E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A
 タイトル      Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
 雑誌        J Med Genet 55:189-197 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104758"">10.1136/jmedgenet-2017-104758</a>"
H02236,Keppen-Lubinsky 症候群,,,"Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.",先天性代謝異常症,,KCNJ6 [HSA:3763] [KO:K05000],,,,,,"ICD-11: LD27.60
 ICD-10: E88.1
 OMIM: 614098","PMID:19610118
 著者        Basel-Vanagaite L, Shaffer L, Chitayat D
 タイトル      Keppen-Lubinsky syndrome: Expanding the phenotype.
 雑誌        Am J Med Genet A 149A:1827-9 (2009)
 DOI:10.1002/ajmg.a.32975
 PMID:25620207
 著者        Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B
 タイトル      Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
 雑誌        Am J Hum Genet 96:295-300 (2015)
 DOI:10.1016/j.ajhg.2014.12.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02236"">H02236</a>",Keppen-Lubinsky 症候群,"Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.",,"KCNJ6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3763"">3763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05000"">K05000</a>]",,,,,,"ICD-11: LD27.60
 ICD-10: E88.1
 OMIM: <a href=""https://www.omim.org/entry/614098"">614098</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19610118"">19610118</a>
 著者        Basel-Vanagaite L, Shaffer L, Chitayat D
 タイトル      Keppen-Lubinsky syndrome: Expanding the phenotype.
 雑誌        Am J Med Genet A 149A:1827-9 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32975"">10.1002/ajmg.a.32975</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25620207"">25620207</a>
 著者        Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B
 タイトル      Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
 雑誌        Am J Hum Genet 96:295-300 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.12.011"">10.1016/j.ajhg.2014.12.011</a>"
H02237,"AMP デアミナーゼ欠損症
 下位グループ    ミオアデニル酸デアミナーゼ欠損症
 赤血球 AMP デアミナーゼ欠損症",,,"AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) was discovered in patients with muscle weakness and cramping after exercise, and the mutations in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic.",先天性代謝異常症,,"AMPD1 [HSA:270] [KO:K01490]
 AMPD3 [HSA:272] [KO:K01490]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: G71.3
 MeSH: C538234
 OMIM: 615511 612874","PMID:10996775
 著者        Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M
 タイトル      Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
 雑誌        Neuromuscul Disord 10:472-7 (2000)
 DOI:10.1016/S0960-8966(00)00127-9
 PMID:8004104
 著者        Yamada Y, Goto H, Ogasawara N
 タイトル      A point mutation responsible for human erythrocyte AMP deaminase deficiency.
 雑誌        Hum Mol Genet 3:331-4 (1994)
 DOI:10.1093/hmg/3.2.331","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02237"">H02237</a>","AMP デアミナーゼ欠損症
 下位グループ    ミオアデニル酸デアミナーゼ欠損症
 赤血球 AMP デアミナーゼ欠損症","AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) was discovered in patients with muscle weakness and cramping after exercise, and the mutations in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic.",,"AMPD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:270"">270</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01490"">K01490</a>]
 AMPD3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:272"">272</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01490"">K01490</a>]",,,,,,"ICD-11: 5C55.0Y
 ICD-10: G71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538234"">C538234</a>
 OMIM: <a href=""https://www.omim.org/entry/615511"">615511</a> <a href=""https://www.omim.org/entry/612874"">612874</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10996775"">10996775</a>
 著者        Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M
 タイトル      Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
 雑誌        Neuromuscul Disord 10:472-7 (2000)
 DOI:<a href=""https://doi.org/10.1016/S0960-8966(00)00127-9"">10.1016/S0960-8966(00)00127-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8004104"">8004104</a>
 著者        Yamada Y, Goto H, Ogasawara N
 タイトル      A point mutation responsible for human erythrocyte AMP deaminase deficiency.
 雑誌        Hum Mol Genet 3:331-4 (1994)
 DOI:<a href=""https://doi.org/10.1093/hmg/3.2.331"">10.1093/hmg/3.2.331</a>"
H02238,先天的易骨折性を伴う脊髄性筋萎縮症,,,Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex.,筋骨格疾患,,"(SMABF1) TRIP4 [HSA:9325] [KO:K23398]
 (SMABF2) ASCC1 [HSA:51008] [KO:K18666]",,,,,,"ICD-11: 8B61.Y
 ICD-10: G12.8
 MeSH: C564805
 OMIM: 616866 616867","PMID:26924529
 著者        Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hubner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M
 タイトル      Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
 雑誌        Am J Hum Genet 98:473-489 (2016)
 DOI:10.1016/j.ajhg.2016.01.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02238"">H02238</a>",先天的易骨折性を伴う脊髄性筋萎縮症,Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex.,,"(SMABF1) TRIP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9325"">9325</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23398"">K23398</a>]
 (SMABF2) ASCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51008"">51008</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18666"">K18666</a>]",,,,,,"ICD-11: 8B61.Y
 ICD-10: G12.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564805"">C564805</a>
 OMIM: <a href=""https://www.omim.org/entry/616866"">616866</a> <a href=""https://www.omim.org/entry/616867"">616867</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26924529"">26924529</a>
 著者        Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hubner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M
 タイトル      Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
 雑誌        Am J Hum Genet 98:473-489 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.01.006"">10.1016/j.ajhg.2016.01.006</a>"
H02239,"エーラス・ダンロス症候群 脊椎異形成型
 下位グループ    エーラス・ダンロス症候群 早老型
 エーラス・ダンロス症候群様脊椎手掌異形成
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity.",先天奇形,,"(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733]
 (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734]
 (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C536201
 OMIM: 130070 615349 612350","PMID:28882145
 著者        Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M
 タイトル      Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
 雑誌        Orphanet J Rare Dis 12:153 (2017)
 DOI:10.1186/s13023-017-0704-3
 PMID:15211654 (B4GALT7)
 著者        Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS
 タイトル      A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
 雑誌        Am J Med Genet A 128A:39-45 (2004)
 DOI:10.1002/ajmg.a.30005
 PMID:23664117 (B3GALT6)
 著者        Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
 タイトル      Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
 雑誌        Am J Hum Genet 92:927-34 (2013)
 DOI:10.1016/j.ajhg.2013.04.003
 PMID:18513683 (SLC39A13)
 著者        Giunta C, Elcioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B
 タイトル      Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
 雑誌        Am J Hum Genet 82:1290-305 (2008)
 DOI:10.1016/j.ajhg.2008.05.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02239"">H02239</a>","エーラス・ダンロス症候群 脊椎異形成型
 下位グループ    エーラス・ダンロス症候群 早老型
 エーラス・ダンロス症候群様脊椎手掌異形成
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity.",,"(EDSSPD1) B4GALT7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11285"">11285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00733"">K00733</a>]
 (EDSSPD2) B3GALT6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126792"">126792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00734"">K00734</a>]
 (EDSSPD3) SLC39A13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91252"">91252</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14719"">K14719</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536201"">C536201</a>
 OMIM: <a href=""https://www.omim.org/entry/130070"">130070</a> <a href=""https://www.omim.org/entry/615349"">615349</a> <a href=""https://www.omim.org/entry/612350"">612350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28882145"">28882145</a>
 著者        Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M
 タイトル      Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
 雑誌        Orphanet J Rare Dis 12:153 (2017)
 DOI:<a href=""https://doi.org/10.1186/s13023-017-0704-3"">10.1186/s13023-017-0704-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15211654"">15211654</a> (B4GALT7)
 著者        Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS
 タイトル      A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
 雑誌        Am J Med Genet A 128A:39-45 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30005"">10.1002/ajmg.a.30005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23664117"">23664117</a> (B3GALT6)
 著者        Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
 タイトル      Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
 雑誌        Am J Hum Genet 92:927-34 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.003"">10.1016/j.ajhg.2013.04.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18513683"">18513683</a> (SLC39A13)
 著者        Giunta C, Elcioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B
 タイトル      Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
 雑誌        Am J Hum Genet 82:1290-305 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.05.001"">10.1016/j.ajhg.2008.05.001</a>"
H02240,"エーラス・ダンロス症候群 歯周型
 下位グループ    エーラス・ダンロス症候群 VIII 型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.",先天奇形,,"(EDSPD1) C1R [HSA:715] [KO:K01330]
 (EDSPD2) C1S [HSA:716] [KO:K01331]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C562626
 OMIM: 130080 617174","PMID:25485215
 著者        Cikla U, Sadighi A, Bauer A, Baskaya MK
 タイトル      Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
 雑誌        J Neurol Surg Rep 75:e210-3 (2014)
 DOI:10.1055/s-0034-1387185
 PMID:27745832 (C1R C1S)
 著者        Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J
 タイトル      Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
 雑誌        Am J Hum Genet 99:1005-1014 (2016)
 DOI:10.1016/j.ajhg.2016.08.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02240"">H02240</a>","エーラス・ダンロス症候群 歯周型
 下位グループ    エーラス・ダンロス症候群 VIII 型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.",,"(EDSPD1) C1R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:715"">715</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01330"">K01330</a>]
 (EDSPD2) C1S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:716"">716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01331"">K01331</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562626"">C562626</a>
 OMIM: <a href=""https://www.omim.org/entry/130080"">130080</a> <a href=""https://www.omim.org/entry/617174"">617174</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25485215"">25485215</a>
 著者        Cikla U, Sadighi A, Bauer A, Baskaya MK
 タイトル      Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
 雑誌        J Neurol Surg Rep 75:e210-3 (2014)
 DOI:<a href=""https://doi.org/10.1055/s-0034-1387185"">10.1055/s-0034-1387185</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27745832"">27745832</a> (C1R <a href=""https://pubmed.ncbi.nlm.nih.gov/C1S)"">C1S)</a>
 著者        Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J
 タイトル      Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
 雑誌        Am J Hum Genet 99:1005-1014 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.019"">10.1016/j.ajhg.2016.08.019</a>"
H02241,"エーラス・ダンロス症候群 心臓弁型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.",先天奇形,,(EDSCV) COL1A2 [HSA:1278] [KO:K06236],,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C536200
 OMIM: 225320","PMID:15077201
 著者        Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH
 タイトル      Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
 雑誌        Am J Hum Genet 74:917-30 (2004)
 DOI:10.1086/420794","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02241"">H02241</a>","エーラス・ダンロス症候群 心臓弁型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.",,"(EDSCV) COL1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1278"">1278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536200"">C536200</a>
 OMIM: <a href=""https://www.omim.org/entry/225320"">225320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15077201"">15077201</a>
 著者        Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH
 タイトル      Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
 雑誌        Am J Hum Genet 74:917-30 (2004)
 DOI:<a href=""https://doi.org/10.1086/420794"">10.1086/420794</a>"
H02242,"エーラス・ダンロス症候群 血管型;
 エーラス・ダンロス症候群 IV 型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.",先天奇形,,(EDSVASC) COL3A1 [HSA:1281] [KO:K19720],,,,,"The rare specific heterozygous mutations in COL1A1 are c.934C>T, p. Arg312Cys; c.1720C>T, p.Arg574Cys; and c.3277C>T, p.Arg1093Cys.","ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: D004535
 OMIM: 130050","PMID:28306229
 著者        Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
 タイトル      The 2017 international classification of the Ehlers-Danlos syndromes.
 雑誌        Am J Med Genet C Semin Med Genet 175:8-26 (2017)
 DOI:10.1002/ajmg.c.31552
 PMID:15127738
 著者        Germain DP, Herrera-Guzman Y
 タイトル      Vascular Ehlers-Danlos syndrome.
 雑誌        Ann Genet 47:1-9 (2004)
 DOI:10.1016/j.anngen.2003.07.002
 PMID:10051163 (COL3A1)
 著者        Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH
 タイトル      Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
 雑誌        Am J Med Genet 82:305-11 (1999)
 DOI:10.1002/(SICI)1096-8628(19990212)82:4<305::AID-AJMG6>3.0.CO;2-C","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02242"">H02242</a>","エーラス・ダンロス症候群 血管型;
 エーラス・ダンロス症候群 IV 型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.",,"(EDSVASC) COL3A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1281"">1281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19720"">K19720</a>]",,,,,"The rare specific heterozygous mutations in COL1A1 are c.934C>T, p. Arg312Cys; c.1720C>T, p.Arg574Cys; and c.3277C>T, p.Arg1093Cys.","ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004535"">D004535</a>
 OMIM: <a href=""https://www.omim.org/entry/130050"">130050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28306229"">28306229</a>
 著者        Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
 タイトル      The 2017 international classification of the Ehlers-Danlos syndromes.
 雑誌        Am J Med Genet C Semin Med Genet 175:8-26 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31552"">10.1002/ajmg.c.31552</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15127738"">15127738</a>
 著者        Germain DP, Herrera-Guzman Y
 タイトル      Vascular Ehlers-Danlos syndrome.
 雑誌        Ann Genet 47:1-9 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.anngen.2003.07.002"">10.1016/j.anngen.2003.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10051163"">10051163</a> (COL3A1)
 著者        Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH
 タイトル      Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
 雑誌        Am J Med Genet 82:305-11 (1999)
 DOI:<a href=""https://doi.org/10.1002/(SICI)1096-8628(19990212)82:"">10.1002/(SICI)1096-8628(19990212)82:</a><a href=""https://doi.org/4<305:"">4<305:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-AJMG6>3.0.CO;2-C"">AID-AJMG6>3.0.CO;2-C</a>"
H02243,"エーラス・ダンロス症候群 多発関節弛緩型
 下位グループ    エーラス・ダンロス症候群 VIIA 型
 エーラス・ダンロス症候群 VIIB 型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.",先天奇形,,"(EDSARTH1) COL1A1 [HSA:1277] [KO:K06236]
 (EDSARTH2) COL1A2 [HSA:1278] [KO:K06236]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C562625
 OMIM: 130060 617821","PMID:18409203
 著者        Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B
 タイトル      The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
 雑誌        Am J Med Genet A 146A:1341-6 (2008)
 DOI:10.1002/ajmg.a.32213
 PMID:2767050 (COL1A1)
 著者        Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF
 タイトル      A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
 雑誌        EMBO J 8:1705-10 (1989)
 DOI:10.1002/j.1460-2075.1989.tb03562.x
 PMID:2993307 (COL1A2)
 著者        Eyre DR, Shapiro FD, Aldridge JF
 タイトル      A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
 雑誌        J Biol Chem 260:11322-9 (1985)
 DOI:10.1016/S0021-9258(17)39183-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02243"">H02243</a>","エーラス・ダンロス症候群 多発関節弛緩型
 下位グループ    エーラス・ダンロス症候群 VIIA 型
 エーラス・ダンロス症候群 VIIB 型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.",,"(EDSARTH1) COL1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1277"">1277</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]
 (EDSARTH2) COL1A2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1278"">1278</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06236"">K06236</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562625"">C562625</a>
 OMIM: <a href=""https://www.omim.org/entry/130060"">130060</a> <a href=""https://www.omim.org/entry/617821"">617821</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18409203"">18409203</a>
 著者        Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B
 タイトル      The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
 雑誌        Am J Med Genet A 146A:1341-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32213"">10.1002/ajmg.a.32213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2767050"">2767050</a> (COL1A1)
 著者        Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF
 タイトル      A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
 雑誌        EMBO J 8:1705-10 (1989)
 DOI:<a href=""https://doi.org/10.1002/j.1460-2075.1989.tb03562.x"">10.1002/j.1460-2075.1989.tb03562.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2993307"">2993307</a> (COL1A2)
 著者        Eyre DR, Shapiro FD, Aldridge JF
 タイトル      A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
 雑誌        J Biol Chem 260:11322-9 (1985)
 DOI:<a href=""https://doi.org/10.1016/S0021-9258(17)39183-4"">10.1016/S0021-9258(17)39183-4</a>"
H02244,"エーラス・ダンロス症候群 皮膚脆弱型;
 エーラス・ダンロス症候群 VIIC 型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase.",先天奇形,,(EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618],,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C567527
 OMIM: 225410","PMID:15373769
 著者        Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV
 タイトル      Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
 雑誌        J Invest Dermatol 123:656-63 (2004)
 DOI:10.1111/j.0022-202X.2004.23406.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02244"">H02244</a>","エーラス・ダンロス症候群 皮膚脆弱型;
 エーラス・ダンロス症候群 VIIC 型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase.",,"(EDSDERMS) ADAMTS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9509"">9509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08618"">K08618</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567527"">C567527</a>
 OMIM: <a href=""https://www.omim.org/entry/225410"">225410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15373769"">15373769</a>
 著者        Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV
 タイトル      Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
 雑誌        J Invest Dermatol 123:656-63 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0022-202X.2004.23406.x"">10.1111/j.0022-202X.2004.23406.x</a>"
H02245,"エーラス・ダンロス症候群 後側彎型
 下位グループ    エーラス・ダンロス症候群 VI 型
 進行性後側彎・ミオパチー・難聴を伴うエーラス・ダンロス症候群
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. Recently, it has been reported that mutations in FKBP14 cause an Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH).",先天奇形,,"(EDSKSCL1) PLOD1 [HSA:5351] [KO:K00473]
 (EDSKSCL2) FKBP14 [HSA:55033] [KO:K09577]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C536198
 OMIM: 225400 614557","PMID:15666309 (PLOD1)
 著者        Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B
 タイトル      Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
 雑誌        Am J Med Genet A 133A:158-64 (2005)
 DOI:10.1002/ajmg.a.30529
 PMID:22265013 (FKBP14)
 著者        Baumann M, Giunta C, Krabichler B, Ruschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C
 タイトル      Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
 雑誌        Am J Hum Genet 90:201-16 (2012)
 DOI:10.1016/j.ajhg.2011.12.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02245"">H02245</a>","エーラス・ダンロス症候群 後側彎型
 下位グループ    エーラス・ダンロス症候群 VI 型
 進行性後側彎・ミオパチー・難聴を伴うエーラス・ダンロス症候群
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. Recently, it has been reported that mutations in FKBP14 cause an Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH).",,"(EDSKSCL1) PLOD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5351"">5351</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00473"">K00473</a>]
 (EDSKSCL2) FKBP14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55033"">55033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09577"">K09577</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536198"">C536198</a>
 OMIM: <a href=""https://www.omim.org/entry/225400"">225400</a> <a href=""https://www.omim.org/entry/614557"">614557</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15666309"">15666309</a> (PLOD1)
 著者        Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B
 タイトル      Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
 雑誌        Am J Med Genet A 133A:158-64 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30529"">10.1002/ajmg.a.30529</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22265013"">22265013</a> (FKBP14)
 著者        Baumann M, Giunta C, Krabichler B, Ruschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C
 タイトル      Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
 雑誌        Am J Hum Genet 90:201-16 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.004"">10.1016/j.ajhg.2011.12.004</a>"
H02246,"エーラス・ダンロス症候群 筋拘縮型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]",,,"Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. EDSMC is caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan sulfate epimerase-1, have been identified in a child with EDSMC features.",先天奇形,,"(EDSMC1) CHST14 [HSA:113189] [KO:K08105]
 (EDSMC2) DSE [HSA:29940] [KO:K01794]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: C000600608
 OMIM: 601776 615539","PMID:25703627
 著者        Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Le T, De Paepe A, Malfait F
 タイトル      Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
 雑誌        Hum Mutat 36:535-47 (2015)
 DOI:10.1002/humu.22774
 PMID:20842734 (CHST14)
 著者        Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Le T, Van Laer L, De Paepe A
 タイトル      Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
 雑誌        Hum Mutat 31:1233-9 (2010)
 DOI:10.1002/humu.21355
 PMID:23704329 (DSE)
 著者        Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR
 タイトル      Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
 雑誌        Hum Mol Genet 22:3761-72 (2013)
 DOI:10.1093/hmg/ddt227","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02246"">H02246</a>","エーラス・ダンロス症候群 筋拘縮型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]","Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. EDSMC is caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan sulfate epimerase-1, have been identified in a child with EDSMC features.",,"(EDSMC1) CHST14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:113189"">113189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08105"">K08105</a>]
 (EDSMC2) DSE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29940"">29940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01794"">K01794</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: Q79.6
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C000600608"">C000600608</a>
 OMIM: <a href=""https://www.omim.org/entry/601776"">601776</a> <a href=""https://www.omim.org/entry/615539"">615539</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25703627"">25703627</a>
 著者        Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Le T, De Paepe A, Malfait F
 タイトル      Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
 雑誌        Hum Mutat 36:535-47 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22774"">10.1002/humu.22774</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20842734"">20842734</a> (CHST14)
 著者        Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Le T, Van Laer L, De Paepe A
 タイトル      Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
 雑誌        Hum Mutat 31:1233-9 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21355"">10.1002/humu.21355</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23704329"">23704329</a> (DSE)
 著者        Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR
 タイトル      Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
 雑誌        Hum Mol Genet 22:3761-72 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt227"">10.1093/hmg/ddt227</a>"
H02247,"エーラス・ダンロス症候群 ミオパチー型;
 ベスレムミオパチー 2 型
 上位グループ    エーラス・ダンロス症候群 [DS:H00802]
 ベスレムミオパチー [DS:H01340]
 6型コラーゲン関連筋疾患 [DS:H01341]
 先天性筋ジストロフィー [DS:H00590]",,,"Ehlers-Danlos syndrome myopathic type (EDSMYP), also known as Bethlem myopathy 2 (BTHLM2), shows clinical features of both a myopathy as well as of a disorder of connective tissue. Although the symptoms are similar to that of the collagen VI-related myopathy, patients don't have mutations in collagen VI. It has been reported that mutations in collagen XII (COL12A1) cause this disease.",先天奇形,,COL12A1 [HSA:1303] [KO:K08132],,,,,,"ICD-11: LD28.1Y
 ICD-10: G71.8
 OMIM: 616471","PMID:28306225
 著者        Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F
 タイトル      The Ehlers-Danlos syndromes, rare types.
 雑誌        Am J Med Genet C Semin Med Genet 175:70-115 (2017)
 DOI:10.1002/ajmg.c.31550
 PMID:24334604 (COL12A1)
 著者        Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
 タイトル      Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
 雑誌        Hum Mol Genet 23:2339-52 (2014)
 DOI:10.1093/hmg/ddt627
 PMID:24334769 (COL12A1)
 著者        Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmuller H, Bushby K, Straub V
 タイトル      Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
 雑誌        Hum Mol Genet 23:2353-63 (2014)
 DOI:10.1093/hmg/ddt637","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02247"">H02247</a>","エーラス・ダンロス症候群 ミオパチー型;
 ベスレムミオパチー 2 型
 上位グループ    エーラス・ダンロス症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00802"">H00802</a>]
 ベスレムミオパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01340"">H01340</a>]
 6型コラーゲン関連筋疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01341"">H01341</a>]
 先天性筋ジストロフィー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00590"">H00590</a>]","Ehlers-Danlos syndrome myopathic type (EDSMYP), also known as Bethlem myopathy 2 (BTHLM2), shows clinical features of both a myopathy as well as of a disorder of connective tissue. Although the symptoms are similar to that of the collagen VI-related myopathy, patients don't have mutations in collagen VI. It has been reported that mutations in collagen XII (COL12A1) cause this disease.",,"COL12A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1303"">1303</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08132"">K08132</a>]",,,,,,"ICD-11: LD28.1Y
 ICD-10: G71.8
 OMIM: <a href=""https://www.omim.org/entry/616471"">616471</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28306225"">28306225</a>
 著者        Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F
 タイトル      The Ehlers-Danlos syndromes, rare types.
 雑誌        Am J Med Genet C Semin Med Genet 175:70-115 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31550"">10.1002/ajmg.c.31550</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334604"">24334604</a> (COL12A1)
 著者        Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
 タイトル      Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
 雑誌        Hum Mol Genet 23:2339-52 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt627"">10.1093/hmg/ddt627</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334769"">24334769</a> (COL12A1)
 著者        Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmuller H, Bushby K, Straub V
 タイトル      Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
 雑誌        Hum Mol Genet 23:2353-63 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt637"">10.1093/hmg/ddt637</a>"
H02248,MEND 症候群,,,"MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.",先天奇形,,EBP [HSA:10682] [KO:K01824],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 300960","PMID:22229330
 著者        Arnold AW, Bruckner-Tuderman L, Has C, Happle R
 タイトル      Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
 雑誌        Br J Dermatol 166:1309-13 (2012)
 DOI:10.1111/j.1365-2133.2012.10808.x
 PMID:20949533
 著者        Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF
 タイトル      A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
 雑誌        Am J Med Genet A 152A:2838-44 (2010)
 DOI:10.1002/ajmg.a.33674","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02248"">H02248</a>",MEND 症候群,"MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.",,"EBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10682"">10682</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01824"">K01824</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/300960"">300960</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22229330"">22229330</a>
 著者        Arnold AW, Bruckner-Tuderman L, Has C, Happle R
 タイトル      Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
 雑誌        Br J Dermatol 166:1309-13 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.2012.10808.x"">10.1111/j.1365-2133.2012.10808.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20949533"">20949533</a>
 著者        Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF
 タイトル      A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
 雑誌        Am J Med Genet A 152A:2838-44 (2010)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33674"">10.1002/ajmg.a.33674</a>"
H02249,Primrose 症候群,,,"Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients.",先天奇形,,ZBTB20 [HSA:26137] [KO:K10501],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C536420
 OMIM: 259050","PMID:27061120
 著者        Mattioli F, Piton A, Gerard B, Superti-Furga A, Mandel JL, Unger S
 タイトル      Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
 雑誌        Am J Med Genet A 170:1626-9 (2016)
 DOI:10.1002/ajmg.a.37645
 PMID:25017102
 著者        Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC
 タイトル      Mutations in ZBTB20 cause Primrose syndrome.
 雑誌        Nat Genet 46:815-7 (2014)
 DOI:10.1038/ng.3035","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02249"">H02249</a>",Primrose 症候群,"Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients.",,"ZBTB20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26137"">26137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10501"">K10501</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536420"">C536420</a>
 OMIM: <a href=""https://www.omim.org/entry/259050"">259050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27061120"">27061120</a>
 著者        Mattioli F, Piton A, Gerard B, Superti-Furga A, Mandel JL, Unger S
 タイトル      Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
 雑誌        Am J Med Genet A 170:1626-9 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37645"">10.1002/ajmg.a.37645</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25017102"">25017102</a>
 著者        Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC
 タイトル      Mutations in ZBTB20 cause Primrose syndrome.
 雑誌        Nat Genet 46:815-7 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3035"">10.1038/ng.3035</a>"
H02250,"早期発症型ビタミン B6 依存性てんかん
 上位グループ    ピリドキシン依存性てんかん [DS:H01247]",,,"Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life.",神経系疾患,,PLPBP [HSA:11212] [KO:K06997],,,,,,"ICD-11: 8A61.0Y
 ICD-10: G40.8
 MeSH: C536254
 OMIM: 617290","PMID:27912044
 著者        Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT
 タイトル      Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
 雑誌        Am J Hum Genet 99:1325-1337 (2016)
 DOI:10.1016/j.ajhg.2016.10.011
 PMID:29689137
 著者        Tremino L, Forcada-Nadal A, Rubio V
 タイトル      Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
 雑誌        Hum Mutat 39:1002-1013 (2018)
 DOI:10.1002/humu.23540","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02250"">H02250</a>","早期発症型ビタミン B6 依存性てんかん
 上位グループ    ピリドキシン依存性てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01247"">H01247</a>]","Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life.",,"PLPBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11212"">11212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06997"">K06997</a>]",,,,,,"ICD-11: 8A61.0Y
 ICD-10: G40.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536254"">C536254</a>
 OMIM: <a href=""https://www.omim.org/entry/617290"">617290</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27912044"">27912044</a>
 著者        Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT
 タイトル      Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
 雑誌        Am J Hum Genet 99:1325-1337 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.10.011"">10.1016/j.ajhg.2016.10.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29689137"">29689137</a>
 著者        Tremino L, Forcada-Nadal A, Rubio V
 タイトル      Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
 雑誌        Hum Mutat 39:1002-1013 (2018)
 DOI:<a href=""https://doi.org/10.1002/humu.23540"">10.1002/humu.23540</a>"
H02251,"コートプラス症候群;
 石灰化と嚢胞を伴う脳網膜微小血管症",,,"Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.",神経系疾患,,"(CRMCC1) CTC1 [HSA:80169] [KO:K23311]
 (CRMCC2) STN1 [HSA:79991] [KO:K23312]",,,,,,"ICD-11: 9B78.1
 ICD-10: H35.0
 MeSH: C567401
 OMIM: 612199 617341","PMID:18076099
 著者        Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ
 タイトル      Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
 雑誌        Am J Med Genet A 146A:182-90 (2008)
 DOI:10.1002/ajmg.a.32080
 PMID:22267198
 著者        Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenco CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ
 タイトル      Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
 雑誌        Nat Genet 44:338-42 (2012)
 DOI:10.1038/ng.1084
 PMID:27432940
 著者        Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R
 タイトル      Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
 雑誌        J Exp Med 213:1429-40 (2016)
 DOI:10.1084/jem.20151618","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02251"">H02251</a>","コートプラス症候群;
 石灰化と嚢胞を伴う脳網膜微小血管症","Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.",,"(CRMCC1) CTC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80169"">80169</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23311"">K23311</a>]
 (CRMCC2) STN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79991"">79991</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23312"">K23312</a>]",,,,,,"ICD-11: 9B78.1
 ICD-10: H35.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567401"">C567401</a>
 OMIM: <a href=""https://www.omim.org/entry/612199"">612199</a> <a href=""https://www.omim.org/entry/617341"">617341</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18076099"">18076099</a>
 著者        Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ
 タイトル      Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
 雑誌        Am J Med Genet A 146A:182-90 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32080"">10.1002/ajmg.a.32080</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22267198"">22267198</a>
 著者        Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenco CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ
 タイトル      Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
 雑誌        Nat Genet 44:338-42 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.1084"">10.1038/ng.1084</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27432940"">27432940</a>
 著者        Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R
 タイトル      Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
 雑誌        J Exp Med 213:1429-40 (2016)
 DOI:<a href=""https://doi.org/10.1084/jem.20151618"">10.1084/jem.20151618</a>"
H02252,PEHO 症候群,,,"The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures, peripheral oedema, characteristic dysmorphic features, and poor visual response. It is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. A missense mutation in ZNHIT3 was identified as the primary cause of PEHO syndrome.",神経系疾患,,(PEHO) ZNHIT3 [HSA:9326] [KO:K23309],,,,,,"ICD-11: LD90.Y
 ICD-10: G31.8
 MeSH: C536317
 OMIM: 260565","PMID:28335020
 著者        Anttonen AK, Laari A, Kousi M, Yang YJ, Jaaskelainen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lonnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hastbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE
 タイトル      ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
 雑誌        Brain 140:1267-1279 (2017)
 DOI:10.1093/brain/awx040
 PMID:12949965
 著者        Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Ades LC
 タイトル      PEHO and PEHO-like syndromes: report of five Australian cases.
 雑誌        Am J Med Genet A 122A:6-12 (2003)
 DOI:10.1002/ajmg.a.20216","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02252"">H02252</a>",PEHO 症候群,"The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures, peripheral oedema, characteristic dysmorphic features, and poor visual response. It is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. A missense mutation in ZNHIT3 was identified as the primary cause of PEHO syndrome.",,"(PEHO) ZNHIT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9326"">9326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23309"">K23309</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536317"">C536317</a>
 OMIM: <a href=""https://www.omim.org/entry/260565"">260565</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28335020"">28335020</a>
 著者        Anttonen AK, Laari A, Kousi M, Yang YJ, Jaaskelainen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lonnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hastbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE
 タイトル      ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
 雑誌        Brain 140:1267-1279 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx040"">10.1093/brain/awx040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12949965"">12949965</a>
 著者        Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Ades LC
 タイトル      PEHO and PEHO-like syndromes: report of five Australian cases.
 雑誌        Am J Med Genet A 122A:6-12 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20216"">10.1002/ajmg.a.20216</a>"
H02253,Beaulieu-Boycott-Innes 症候群,,,"Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis. THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export.",先天奇形,,THOC6 [HSA:79228] [KO:K13175],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 613680","PMID:27102954
 著者        Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Riviere JB, Faivre L, Innes AM, Lebel RR, Boycott KM
 タイトル      Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
 雑誌        Clin Genet 91:92-99 (2017)
 DOI:10.1111/cge.12793
 PMID:23621916
 著者        Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
 タイトル      Intellectual disability associated with a homozygous missense mutation in THOC6.
 雑誌        Orphanet J Rare Dis 8:62 (2013)
 DOI:10.1186/1750-1172-8-62","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02253"">H02253</a>",Beaulieu-Boycott-Innes 症候群,"Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis. THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export.",,"THOC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79228"">79228</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13175"">K13175</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/613680"">613680</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27102954"">27102954</a>
 著者        Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Riviere JB, Faivre L, Innes AM, Lebel RR, Boycott KM
 タイトル      Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
 雑誌        Clin Genet 91:92-99 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12793"">10.1111/cge.12793</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23621916"">23621916</a>
 著者        Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
 タイトル      Intellectual disability associated with a homozygous missense mutation in THOC6.
 雑誌        Orphanet J Rare Dis 8:62 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-62"">10.1186/1750-1172-8-62</a>"
H02254,頭蓋縫合早期癒合症および歯の異常,,,"Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children harbored mutations in IL11RA encoding interleukin 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.",先天奇形,,IL11RA [HSA:3590] [KO:K05056],,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: C564700
 OMIM: 614188","PMID:21741611
 著者        Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I
 タイトル      Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
 雑誌        Am J Hum Genet 89:67-81 (2011)
 DOI:10.1016/j.ajhg.2011.05.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02254"">H02254</a>",頭蓋縫合早期癒合症および歯の異常,"Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children harbored mutations in IL11RA encoding interleukin 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.",,"IL11RA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3590"">3590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05056"">K05056</a>]",,,,,,"ICD-11: LD24.GY
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564700"">C564700</a>
 OMIM: <a href=""https://www.omim.org/entry/614188"">614188</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21741611"">21741611</a>
 著者        Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I
 タイトル      Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
 雑誌        Am J Hum Genet 89:67-81 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.05.024"">10.1016/j.ajhg.2011.05.024</a>"
H02255,"FDLAB 症候群;
 Traboulsi 症候群",,,"Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase.",先天奇形,,ASPH [HSA:444] [KO:K00476],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 601552","PMID:24768550
 著者        Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Megarbane A, Traboulsi EI, Alkuraya FS
 タイトル      Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
 雑誌        Am J Hum Genet 94:755-9 (2014)
 DOI:10.1016/j.ajhg.2014.04.002
 PMID:23687502
 著者        Mansour AM, Younis MH, Dakroub RH
 タイトル      Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.
 雑誌        Case Rep Ophthalmol 4:84-90 (2013)
 DOI:10.1159/000350951","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02255"">H02255</a>","FDLAB 症候群;
 Traboulsi 症候群","Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase.",,"ASPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:444"">444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00476"">K00476</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/601552"">601552</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24768550"">24768550</a>
 著者        Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Megarbane A, Traboulsi EI, Alkuraya FS
 タイトル      Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
 雑誌        Am J Hum Genet 94:755-9 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.04.002"">10.1016/j.ajhg.2014.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23687502"">23687502</a>
 著者        Mansour AM, Younis MH, Dakroub RH
 タイトル      Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.
 雑誌        Case Rep Ophthalmol 4:84-90 (2013)
 DOI:<a href=""https://doi.org/10.1159/000350951"">10.1159/000350951</a>"
H02256,"先天性第VII因子欠乏症;
 低プロコンバーチン血症",,,"FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown.",血液疾患,,F7 [HSA:2155] [KO:K01320],,,,,,"ICD-11: 3B14.2
 ICD-10: D68.2
 MeSH: D005168
 OMIM: 227500","PMID:11091194
 著者        Au WY, Lam CC, Chan EC, Kwong YL
 タイトル      Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.
 雑誌        Br J Haematol 111:143-5 (2000)
 DOI:10.1111/j.1365-2141.2000.02332.x
 PMID:17849063
 著者        Zhidong W, Xiaojun H
 タイトル      Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.
 雑誌        Thromb Haemost 98:687-8 (2007)
 DOI:10.1160/TH07-02-0126
 PMID:11129332
 著者        Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN
 タイトル      Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
 雑誌        Hum Genet 107:327-42 (2000)
 DOI:10.1007/s004390000373
 PMID:11139238
 著者        McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG
 タイトル      Factor VII deficiency and the FVII mutation database.
 雑誌        Hum Mutat 17:3-17 (2001)
 DOI:10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02256"">H02256</a>","先天性第VII因子欠乏症;
 低プロコンバーチン血症","FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown.",,"F7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2155"">2155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01320"">K01320</a>]",,,,,,"ICD-11: 3B14.2
 ICD-10: D68.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005168"">D005168</a>
 OMIM: <a href=""https://www.omim.org/entry/227500"">227500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11091194"">11091194</a>
 著者        Au WY, Lam CC, Chan EC, Kwong YL
 タイトル      Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.
 雑誌        Br J Haematol 111:143-5 (2000)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2141.2000.02332.x"">10.1111/j.1365-2141.2000.02332.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17849063"">17849063</a>
 著者        Zhidong W, Xiaojun H
 タイトル      Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.
 雑誌        Thromb Haemost 98:687-8 (2007)
 DOI:<a href=""https://doi.org/10.1160/TH07-02-0126"">10.1160/TH07-02-0126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11129332"">11129332</a>
 著者        Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN
 タイトル      Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
 雑誌        Hum Genet 107:327-42 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004390000373"">10.1007/s004390000373</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11139238"">11139238</a>
 著者        McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG
 タイトル      Factor VII deficiency and the FVII mutation database.
 雑誌        Hum Mutat 17:3-17 (2001)
 DOI:<a href=""https://doi.org/10.1002/1098-1004(2001)17:"">10.1002/1098-1004(2001)17:</a><a href=""https://doi.org/1<3:"">1<3:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-HUMU2>3.0.CO;2-V"">AID-HUMU2>3.0.CO;2-V</a>"
H02257,先天性第X因子欠乏症,,,"Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations, ranging from mild bleeding diathesis to severe life-threatening bleeding episodes such as umbilical cord bleeding and intracranial hemorrhage. A wide spectrum of factor X gene mutations was observed in patients with congenital FXD.",血液疾患,,F10 [HSA:2159] [KO:K01314],,,,,,"ICD-11: 3B14.1
 ICD-10: D68.2
 MeSH: D005171
 OMIM: 227600","PMID:7233424
 著者        Mori K, Sakai H, Nakano N, Suzuki S, Sugai K, Hisa S, Goto Y
 タイトル      Congenital factor X deficiency in Japan.
 雑誌        Tohoku J Exp Med 133:1-19 (1981)
 DOI:10.1620/tjem.133.1
 PMID:26891460
 著者        Dorgalaleh A, Zaker F, Tabibian S, Alizadeh S, Dorgalele S, Hosseini S, Shamsizadeh M
 タイトル      Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency.
 雑誌        Blood Coagul Fibrinolysis 27:324-7 (2016)
 DOI:10.1097/MBC.0000000000000435","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02257"">H02257</a>",先天性第X因子欠乏症,"Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations, ranging from mild bleeding diathesis to severe life-threatening bleeding episodes such as umbilical cord bleeding and intracranial hemorrhage. A wide spectrum of factor X gene mutations was observed in patients with congenital FXD.",,"F10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2159"">2159</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01314"">K01314</a>]",,,,,,"ICD-11: 3B14.1
 ICD-10: D68.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D005171"">D005171</a>
 OMIM: <a href=""https://www.omim.org/entry/227600"">227600</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7233424"">7233424</a>
 著者        Mori K, Sakai H, Nakano N, Suzuki S, Sugai K, Hisa S, Goto Y
 タイトル      Congenital factor X deficiency in Japan.
 雑誌        Tohoku J Exp Med 133:1-19 (1981)
 DOI:<a href=""https://doi.org/10.1620/tjem.133.1"">10.1620/tjem.133.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26891460"">26891460</a>
 著者        Dorgalaleh A, Zaker F, Tabibian S, Alizadeh S, Dorgalele S, Hosseini S, Shamsizadeh M
 タイトル      Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency.
 雑誌        Blood Coagul Fibrinolysis 27:324-7 (2016)
 DOI:<a href=""https://doi.org/10.1097/MBC.0000000000000435"">10.1097/MBC.0000000000000435</a>"
H02258,管状凝集体ミオパチー,,,"Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel, and STIM1 encodes a Ca2+ sensor that controls CRAC channels.",筋骨格疾患,,"(TAM1) STIM1 [HSA:6786] [KO:K16059]
 (TAM2) ORAI1 [HSA:84876] [KO:K16056]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: D020914
 OMIM: 160565 615883","PMID:25326555
 著者        Bohm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Penisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J
 タイトル      Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
 雑誌        J Med Genet 51:824-33 (2014)
 DOI:10.1136/jmedgenet-2014-102623
 PMID:25227914
 著者        Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I
 タイトル      Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels.
 雑誌        Hum Mol Genet 24:637-48 (2015)
 DOI:10.1093/hmg/ddu477
 PMID:24591628
 著者        Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
 タイトル      Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
 雑誌        Proc Natl Acad Sci U S A 111:4197-202 (2014)
 DOI:10.1073/pnas.1312520111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02258"">H02258</a>",管状凝集体ミオパチー,"Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel, and STIM1 encodes a Ca2+ sensor that controls CRAC channels.",,"(TAM1) STIM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6786"">6786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16059"">K16059</a>]
 (TAM2) ORAI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84876"">84876</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16056"">K16056</a>]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020914"">D020914</a>
 OMIM: <a href=""https://www.omim.org/entry/160565"">160565</a> <a href=""https://www.omim.org/entry/615883"">615883</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25326555"">25326555</a>
 著者        Bohm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Penisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J
 タイトル      Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
 雑誌        J Med Genet 51:824-33 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102623"">10.1136/jmedgenet-2014-102623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25227914"">25227914</a>
 著者        Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I
 タイトル      Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels.
 雑誌        Hum Mol Genet 24:637-48 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu477"">10.1093/hmg/ddu477</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24591628"">24591628</a>
 著者        Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
 タイトル      Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
 雑誌        Proc Natl Acad Sci U S A 111:4197-202 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1312520111"">10.1073/pnas.1312520111</a>"
H02259,Stormorken 症候群,,,"Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum.",血液疾患,,STIM1 [HSA:6786] [KO:K16059],,,,,,"ICD-11: 3B62.Y
 ICD-10: D69.8
 MeSH: C566108
 OMIM: 185070","PMID:24619930
 著者        Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjonnfjord GE, Frengen E
 タイトル      A dominant STIM1 mutation causes Stormorken syndrome.
 雑誌        Hum Mutat 35:556-64 (2014)
 DOI:10.1002/humu.22544
 PMID:24591628
 著者        Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
 タイトル      Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
 雑誌        Proc Natl Acad Sci U S A 111:4197-202 (2014)
 DOI:10.1073/pnas.1312520111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02259"">H02259</a>",Stormorken 症候群,"Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum.",,"STIM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6786"">6786</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16059"">K16059</a>]",,,,,,"ICD-11: 3B62.Y
 ICD-10: D69.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566108"">C566108</a>
 OMIM: <a href=""https://www.omim.org/entry/185070"">185070</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24619930"">24619930</a>
 著者        Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjonnfjord GE, Frengen E
 タイトル      A dominant STIM1 mutation causes Stormorken syndrome.
 雑誌        Hum Mutat 35:556-64 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22544"">10.1002/humu.22544</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24591628"">24591628</a>
 著者        Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L
 タイトル      Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
 雑誌        Proc Natl Acad Sci U S A 111:4197-202 (2014)
 DOI:<a href=""https://doi.org/10.1073/pnas.1312520111"">10.1073/pnas.1312520111</a>"
H02260,"Chassaing-Lacombe 型軟骨異形成症;
 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",,,"Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and inherited as an X-linked dominant trait. HDAC6 is a deacetylase that has numerous substrates, one of which is acetylated alpha tubulin. It is known that the level of alpha tubulin acetylation acts on the dynamic of microtubules, and therefore on cell motility and migration.",先天奇形,,HDAC6 [HSA:10013] [KO:K11407],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 300863","PMID:16001442
 著者        Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D
 タイトル      X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
 雑誌        Am J Med Genet A 136A:307-12 (2005)
 DOI:10.1002/ajmg.a.30570
 PMID:20181727
 著者        Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B
 タイトル      A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
 雑誌        Hum Mol Genet 19:2015-27 (2010)
 DOI:10.1093/hmg/ddq083","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02260"">H02260</a>","Chassaing-Lacombe 型軟骨異形成症;
 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia","Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and inherited as an X-linked dominant trait. HDAC6 is a deacetylase that has numerous substrates, one of which is acetylated alpha tubulin. It is known that the level of alpha tubulin acetylation acts on the dynamic of microtubules, and therefore on cell motility and migration.",,"HDAC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10013"">10013</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11407"">K11407</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/300863"">300863</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16001442"">16001442</a>
 著者        Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D
 タイトル      X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
 雑誌        Am J Med Genet A 136A:307-12 (2005)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30570"">10.1002/ajmg.a.30570</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20181727"">20181727</a>
 著者        Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B
 タイトル      A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
 雑誌        Hum Mol Genet 19:2015-27 (2010)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddq083"">10.1093/hmg/ddq083</a>"
H02261,"PEBAT;
 脳萎縮と薄い脳梁を伴う早期発症進行性脳症",,,"Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.",神経系疾患,,TBCD [HSA:6904] [KO:K21767],,,,,,"ICD-11: 8E47
 ICD-10: G31.8
 OMIM: 617193","PMID:27666370
 著者        Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M
 タイトル      Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
 雑誌        Am J Hum Genet 99:962-973 (2016)
 DOI:10.1016/j.ajhg.2016.08.003
 PMID:27666374
 著者        Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
 タイトル      Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
 雑誌        Am J Hum Genet 99:950-961 (2016)
 DOI:10.1016/j.ajhg.2016.08.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02261"">H02261</a>","PEBAT;
 脳萎縮と薄い脳梁を伴う早期発症進行性脳症","Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.",,"TBCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6904"">6904</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21767"">K21767</a>]",,,,,,"ICD-11: 8E47
 ICD-10: G31.8
 OMIM: <a href=""https://www.omim.org/entry/617193"">617193</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27666370"">27666370</a>
 著者        Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M
 タイトル      Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
 雑誌        Am J Hum Genet 99:962-973 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.003"">10.1016/j.ajhg.2016.08.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27666374"">27666374</a>
 著者        Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
 タイトル      Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
 雑誌        Am J Hum Genet 99:950-961 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.005"">10.1016/j.ajhg.2016.08.005</a>"
H02262,"PEBEL;
 脳浮腫と白質脳症を伴う早期発症進行性脳症",,,"Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, and skin lesions. It is triggered by febrile infections, leading to coma and finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) cause PEBEL2.",神経系疾患,,"(PABEL1) NAXE [HSA:128240] [KO:K17759]
 (PABEL2) NAXD [HSA:55739] [KO:K17757]",,,,,,"ICD-11: 8E47
 ICD-10: G31.8
 OMIM: 617186 618321","PMID:27616477
 著者        Kremer LS, Danhauser K, Herebian D, Petkovic Ramadza D, Piekutowska-Abramczuk D, Seibt A, Muller-Felber W, Haack TB, Ploski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H
 タイトル      NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
 雑誌        Am J Hum Genet 99:894-902 (2016)
 DOI:10.1016/j.ajhg.2016.07.018
 PMID:27122014
 著者        Spiegel R, Shaag A, Shalev S, Elpeleg O
 タイトル      Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
 雑誌        Neurogenetics 17:187-90 (2016)
 DOI:10.1007/s10048-016-0483-3
 PMID:30576410
 著者        Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
 タイトル      NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
 雑誌        Brain 142:50-58 (2019)
 DOI:10.1093/brain/awy310","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02262"">H02262</a>","PEBEL;
 脳浮腫と白質脳症を伴う早期発症進行性脳症","Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, and skin lesions. It is triggered by febrile infections, leading to coma and finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) cause PEBEL2.",,"(PABEL1) NAXE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128240"">128240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17759"">K17759</a>]
 (PABEL2) NAXD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55739"">55739</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17757"">K17757</a>]",,,,,,"ICD-11: 8E47
 ICD-10: G31.8
 OMIM: <a href=""https://www.omim.org/entry/617186"">617186</a> <a href=""https://www.omim.org/entry/618321"">618321</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616477"">27616477</a>
 著者        Kremer LS, Danhauser K, Herebian D, Petkovic Ramadza D, Piekutowska-Abramczuk D, Seibt A, Muller-Felber W, Haack TB, Ploski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H
 タイトル      NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
 雑誌        Am J Hum Genet 99:894-902 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.07.018"">10.1016/j.ajhg.2016.07.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27122014"">27122014</a>
 著者        Spiegel R, Shaag A, Shalev S, Elpeleg O
 タイトル      Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
 雑誌        Neurogenetics 17:187-90 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10048-016-0483-3"">10.1007/s10048-016-0483-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30576410"">30576410</a>
 著者        Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
 タイトル      NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
 雑誌        Brain 142:50-58 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awy310"">10.1093/brain/awy310</a>"
H02263,"非表皮剥離性焦点掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:H00723]
 掌蹠角化症 [DS:H01673]",,,"Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful. It has been reported that mutations in keratin 16 (KRT16) and TRPV3 gene cause FNEPPK. Both of them are inherited in an autosomal dominant manner.",先天奇形,,"(FNEPPK1) KRT16 [HSA:3868] [KO:K07604]
 (FNEPPK2) TRPV3 [HSA:162514] [KO:K04972]",,,,,,"ICD-11: EC20.31
 ICD-10: Q82.8
 OMIM: 613000 616400","PMID:25285920
 著者        He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K
 タイトル      A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
 雑誌        J Invest Dermatol 135:907-909 (2015)
 DOI:10.1038/jid.2014.429
 PMID:10839714
 著者        Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH
 タイトル      Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
 雑誌        Exp Dermatol 9:170-7 (2000)
 DOI:10.1034/j.1600-0625.2000.009003170.x
 PMID:8595410
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:10.1093/hmg/4.10.1875","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02263"">H02263</a>","非表皮剥離性焦点掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>]
 掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful. It has been reported that mutations in keratin 16 (KRT16) and TRPV3 gene cause FNEPPK. Both of them are inherited in an autosomal dominant manner.",,"(FNEPPK1) KRT16 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3868"">3868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]
 (FNEPPK2) TRPV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:162514"">162514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04972"">K04972</a>]",,,,,,"ICD-11: EC20.31
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/613000"">613000</a> <a href=""https://www.omim.org/entry/616400"">616400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25285920"">25285920</a>
 著者        He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K
 タイトル      A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
 雑誌        J Invest Dermatol 135:907-909 (2015)
 DOI:<a href=""https://doi.org/10.1038/jid.2014.429"">10.1038/jid.2014.429</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10839714"">10839714</a>
 著者        Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH
 タイトル      Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
 雑誌        Exp Dermatol 9:170-7 (2000)
 DOI:<a href=""https://doi.org/10.1034/j.1600-0625.2000.009003170.x"">10.1034/j.1600-0625.2000.009003170.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8595410"">8595410</a>
 著者        Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.
 タイトル      Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
 雑誌        Hum Mol Genet 4:1875-81 (1995)
 DOI:<a href=""https://doi.org/10.1093/hmg/4.10.1875"">10.1093/hmg/4.10.1875</a>"
H02264,"長島型掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:H00723]
 掌蹠角化症 [DS:H01673]",,,"Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Its clinical manifestations are similar to but milder than those of mal de Meleda. It has been reported that mutations in SERPINB7, encoding a member of the serine protease inhibitor, cause PPKN.",先天奇形,,SERPINB7 [HSA:8710] [KO:K13964],,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 OMIM: 615598","PMID:18347294
 著者        Kabashima K, Sakabe J, Yamada Y, Tokura Y
 タイトル      ""Nagashima-type"" keratosis as a novel entity in the palmoplantar keratoderma category.
 雑誌        Arch Dermatol 144:375-9 (2008)
 DOI:10.1001/archderm.144.3.375
 PMID:24207119
 著者        Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
 タイトル      Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
 雑誌        Am J Hum Genet 93:945-56 (2013)
 DOI:10.1016/j.ajhg.2013.09.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02264"">H02264</a>","長島型掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>]
 掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Its clinical manifestations are similar to but milder than those of mal de Meleda. It has been reported that mutations in SERPINB7, encoding a member of the serine protease inhibitor, cause PPKN.",,"SERPINB7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8710"">8710</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13964"">K13964</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/615598"">615598</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18347294"">18347294</a>
 著者        Kabashima K, Sakabe J, Yamada Y, Tokura Y
 タイトル      ""Nagashima-type"" keratosis as a novel entity in the palmoplantar keratoderma category.
 雑誌        Arch Dermatol 144:375-9 (2008)
 DOI:<a href=""https://doi.org/10.1001/archderm.144.3.375"">10.1001/archderm.144.3.375</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24207119"">24207119</a>
 著者        Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
 タイトル      Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
 雑誌        Am J Hum Genet 93:945-56 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.015"">10.1016/j.ajhg.2013.09.015</a>"
H02265,"環状表皮剥離性魚鱗癬;
 表皮剥離を伴う環状魚鱗癬
 上位グループ    水疱型先天性魚鱗癬様紅皮症 [DS:H00691]
 先天性魚鱗癬 [DS:H01771]",,,"Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.",先天奇形,,"KRT1 [HSA:3848] [KO:K07605]
 KRT10 [HSA:3858] [KO:K07604]",,,,,,"ICD-11: EC20.03
 ICD-10: Q80.3
 MeSH: C564367
 OMIM: 607602","PMID:10053007
 著者        Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH
 タイトル      Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
 雑誌        Am J Hum Genet 64:732-8 (1999)
 DOI:10.1086/302278
 PMID:9036939
 著者        Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
 タイトル      A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
 雑誌        J Invest Dermatol 108:357-61 (1997)
 DOI:10.1111/1523-1747.ep12286491
 PMID:25751346
 著者        Jha A, Taneja J, Ramesh V, Singh A
 タイトル      Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.
 雑誌        Indian J Dermatol Venereol Leprol 81:194-7 (2015)
 DOI:10.4103/0378-6323.152299","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02265"">H02265</a>","環状表皮剥離性魚鱗癬;
 表皮剥離を伴う環状魚鱗癬
 上位グループ    水疱型先天性魚鱗癬様紅皮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00691"">H00691</a>]
 先天性魚鱗癬 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01771"">H01771</a>]","Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.",,"KRT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3848"">3848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07605"">K07605</a>]
 KRT10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3858"">3858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07604"">K07604</a>]",,,,,,"ICD-11: EC20.03
 ICD-10: Q80.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564367"">C564367</a>
 OMIM: <a href=""https://www.omim.org/entry/607602"">607602</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10053007"">10053007</a>
 著者        Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH
 タイトル      Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
 雑誌        Am J Hum Genet 64:732-8 (1999)
 DOI:<a href=""https://doi.org/10.1086/302278"">10.1086/302278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9036939"">9036939</a>
 著者        Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
 タイトル      A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
 雑誌        J Invest Dermatol 108:357-61 (1997)
 DOI:<a href=""https://doi.org/10.1111/1523-1747.ep12286491"">10.1111/1523-1747.ep12286491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25751346"">25751346</a>
 著者        Jha A, Taneja J, Ramesh V, Singh A
 タイトル      Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.
 雑誌        Indian J Dermatol Venereol Leprol 81:194-7 (2015)
 DOI:<a href=""https://doi.org/10.4103/0378-6323.152299"">10.4103/0378-6323.152299</a>"
H02266,"Bothnian 型掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:H00723]
 掌蹠角化症 [DS:H01673]",,,"Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The clinical characteristics of PPKB include diffuse, homogeneous, and even palmoplantar hyperkeratosis with swollen stratum corneum, which distinctively exhibits a whitish spongy appearance upon exposure to water. PPKB is the autosomal-dominant disorder caused by mutations in the aquaporin 5 gene, AQP5.",先天奇形,,AQP5 [HSA:362] [KO:K09867],,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: C536173
 OMIM: 600231","PMID:23830519
 著者        Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundstrom A, Kelsell DP
 タイトル      Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
 雑誌        Am J Hum Genet 93:330-5 (2013)
 DOI:10.1016/j.ajhg.2013.06.008
 PMID:23867895
 著者        Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y
 タイトル      Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
 雑誌        J Invest Dermatol 134:284-287 (2014)
 DOI:10.1038/jid.2013.302","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02266"">H02266</a>","Bothnian 型掌蹠角化症
 上位グループ    非表皮剥離性掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00723"">H00723</a>]
 掌蹠角化症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01673"">H01673</a>]","Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The clinical characteristics of PPKB include diffuse, homogeneous, and even palmoplantar hyperkeratosis with swollen stratum corneum, which distinctively exhibits a whitish spongy appearance upon exposure to water. PPKB is the autosomal-dominant disorder caused by mutations in the aquaporin 5 gene, AQP5.",,"AQP5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:362"">362</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09867"">K09867</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536173"">C536173</a>
 OMIM: <a href=""https://www.omim.org/entry/600231"">600231</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23830519"">23830519</a>
 著者        Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundstrom A, Kelsell DP
 タイトル      Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
 雑誌        Am J Hum Genet 93:330-5 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.06.008"">10.1016/j.ajhg.2013.06.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23867895"">23867895</a>
 著者        Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y
 タイトル      Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
 雑誌        J Invest Dermatol 134:284-287 (2014)
 DOI:<a href=""https://doi.org/10.1038/jid.2013.302"">10.1038/jid.2013.302</a>"
H02267,Wilson-Turner 症候群,,,"Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.",先天奇形,,LAS1L [HSA:81887] [KO:K16912],,,,,,"ICD-11: LD29
 ICD-10: Q87.8
 OMIM: 309585","PMID:1746601
 著者        Wilson M, Mulley J, Gedeon A, Robinson H, Turner G
 タイトル      New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
 雑誌        Am J Med Genet 40:406-13 (1991)
 DOI:10.1002/ajmg.1320400405
 PMID:25644381
 著者        Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
 タイトル      X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
 雑誌        Mol Psychiatry 21:133-48 (2016)
 DOI:10.1038/mp.2014.193","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02267"">H02267</a>",Wilson-Turner 症候群,"Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.",,"LAS1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81887"">81887</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16912"">K16912</a>]",,,,,,"ICD-11: LD29
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/309585"">309585</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1746601"">1746601</a>
 著者        Wilson M, Mulley J, Gedeon A, Robinson H, Turner G
 タイトル      New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
 雑誌        Am J Med Genet 40:406-13 (1991)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320400405"">10.1002/ajmg.1320400405</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25644381"">25644381</a>
 著者        Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
 タイトル      X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
 雑誌        Mol Psychiatry 21:133-48 (2016)
 DOI:<a href=""https://doi.org/10.1038/mp.2014.193"">10.1038/mp.2014.193</a>"
H02268,Wieacker-Wolff 症候群,,,"Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation. WRWF is caused by mutations in the ZC4H2 gene, that is involved in human brain development.",筋骨格疾患,,ZC4H2 [HSA:55906] [KO:K24369],,,,,,"ICD-11: LD26.4Y
 ICD-10: G71.8
 MeSH: C536703
 OMIM: 314580","PMID:23623388
 著者        Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hubner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM
 タイトル      ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
 雑誌        Am J Hum Genet 92:681-95 (2013)
 DOI:10.1016/j.ajhg.2013.03.021
 PMID:28345801
 著者        Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C
 タイトル      ZC4H2 deletions can cause severe phenotype in female carriers.
 雑誌        Am J Med Genet A 173:1358-1363 (2017)
 DOI:10.1002/ajmg.a.38155
 PMID:4039531
 著者        Wieacker P, Wolff G, Wienker TF, Sauer M
 タイトル      A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.
 雑誌        Am J Med Genet 20:597-606 (1985)
 DOI:10.1002/ajmg.1320200405","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02268"">H02268</a>",Wieacker-Wolff 症候群,"Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation. WRWF is caused by mutations in the ZC4H2 gene, that is involved in human brain development.",,"ZC4H2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55906"">55906</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24369"">K24369</a>]",,,,,,"ICD-11: LD26.4Y
 ICD-10: G71.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536703"">C536703</a>
 OMIM: <a href=""https://www.omim.org/entry/314580"">314580</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23623388"">23623388</a>
 著者        Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hubner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM
 タイトル      ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
 雑誌        Am J Hum Genet 92:681-95 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.021"">10.1016/j.ajhg.2013.03.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28345801"">28345801</a>
 著者        Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C
 タイトル      ZC4H2 deletions can cause severe phenotype in female carriers.
 雑誌        Am J Med Genet A 173:1358-1363 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38155"">10.1002/ajmg.a.38155</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4039531"">4039531</a>
 著者        Wieacker P, Wolff G, Wienker TF, Sauer M
 タイトル      A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.
 雑誌        Am J Med Genet 20:597-606 (1985)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320200405"">10.1002/ajmg.1320200405</a>"
H02269,家族性心室頻拍,,,"Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, familial cardiomyopathy or one of the long QT interval syndromes. However, some patients had no specific electrocardiographic (ECG) changes. Their QT intervals were normal and showed no cardiac abnormalities. It has been reported that absence of the inhibitory G-Protein (G alpha i-2) predisposes to ventricular tachycardia.",循環器系疾患,,GNAI2 [HSA:2771] [KO:K04630],,,,,,"ICD-11: BC71.0Y
 ICD-10: I47.2
 MeSH: D017180
 OMIM: 192605","PMID:10588218
 著者        Fisher JD, Krikler D, Hallidie-Smith KA
 タイトル      Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing.
 雑誌        J Am Coll Cardiol 34:2015-22 (1999)
 DOI:10.1016/S0735-1097(99)00438-6
 PMID:20495013
 著者        Zuberi Z, Nobles M, Sebastian S, Dyson A, Lim SY, Breckenridge R, Birnbaumer L, Tinker A
 タイトル      Absence of the inhibitory G-protein Galphai2 predisposes to ventricular cardiac arrhythmia.
 雑誌        Circ Arrhythm Electrophysiol 3:391-400 (2010)
 DOI:10.1161/CIRCEP.109.894329","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02269"">H02269</a>",家族性心室頻拍,"Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, familial cardiomyopathy or one of the long QT interval syndromes. However, some patients had no specific electrocardiographic (ECG) changes. Their QT intervals were normal and showed no cardiac abnormalities. It has been reported that absence of the inhibitory G-Protein (G alpha i-2) predisposes to ventricular tachycardia.",,"GNAI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2771"">2771</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04630"">K04630</a>]",,,,,,"ICD-11: BC71.0Y
 ICD-10: I47.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017180"">D017180</a>
 OMIM: <a href=""https://www.omim.org/entry/192605"">192605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10588218"">10588218</a>
 著者        Fisher JD, Krikler D, Hallidie-Smith KA
 タイトル      Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing.
 雑誌        J Am Coll Cardiol 34:2015-22 (1999)
 DOI:<a href=""https://doi.org/10.1016/S0735-1097(99)00438-6"">10.1016/S0735-1097(99)00438-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20495013"">20495013</a>
 著者        Zuberi Z, Nobles M, Sebastian S, Dyson A, Lim SY, Breckenridge R, Birnbaumer L, Tinker A
 タイトル      Absence of the inhibitory G-protein Galphai2 predisposes to ventricular cardiac arrhythmia.
 雑誌        Circ Arrhythm Electrophysiol 3:391-400 (2010)
 DOI:<a href=""https://doi.org/10.1161/CIRCEP.109.894329"">10.1161/CIRCEP.109.894329</a>"
H02270,空洞視神経乳頭奇形,,,"Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase 19 (MMP19) has been discovered in an autosomal dominant pedigree with CODA.",先天奇形,,MMP19 [HSA:4327] [KO:K07998],,,,,,"ICD-11: LA13.7Y
 ICD-10: Q14.2
 MeSH: C566924
 OMIM: 611543","PMID:28003733
 著者        Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH
 タイトル      MMP19 expression in the human optic nerve.
 雑誌        Mol Vis 22:1429-1436 (2016)
 PMID:25581579
 著者        Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH
 タイトル      Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
 雑誌        Hum Mutat 36:369-78 (2015)
 DOI:10.1002/humu.22754
 PMID:18713577
 著者        Golnik KC
 タイトル      Cavitary anomalies of the optic disc: neurologic significance.
 雑誌        Curr Neurol Neurosci Rep 8:409-13 (2008)
 DOI:10.1007/s11910-008-0063-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02270"">H02270</a>",空洞視神経乳頭奇形,"Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase 19 (MMP19) has been discovered in an autosomal dominant pedigree with CODA.",,"MMP19 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4327"">4327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07998"">K07998</a>]",,,,,,"ICD-11: LA13.7Y
 ICD-10: Q14.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566924"">C566924</a>
 OMIM: <a href=""https://www.omim.org/entry/611543"">611543</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28003733"">28003733</a>
 著者        Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH
 タイトル      MMP19 expression in the human optic nerve.
 雑誌        Mol Vis 22:1429-1436 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25581579"">25581579</a>
 著者        Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH
 タイトル      Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
 雑誌        Hum Mutat 36:369-78 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22754"">10.1002/humu.22754</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18713577"">18713577</a>
 著者        Golnik KC
 タイトル      Cavitary anomalies of the optic disc: neurologic significance.
 雑誌        Curr Neurol Neurosci Rep 8:409-13 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11910-008-0063-5"">10.1007/s11910-008-0063-5</a>"
H02271,小脳・顔・歯症候群,,,"Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.",先天奇形,,BRF1 [HSA:2972] [KO:K15196],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 616202","PMID:25561519
 著者        Borck G, Hog F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmuller J, Reymond A, Nurnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C
 タイトル      BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
 雑誌        Genome Res 25:155-66 (2015)
 DOI:10.1101/gr.176925.114","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02271"">H02271</a>",小脳・顔・歯症候群,"Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.",,"BRF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2972"">2972</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15196"">K15196</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/616202"">616202</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25561519"">25561519</a>
 著者        Borck G, Hog F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmuller J, Reymond A, Nurnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C
 タイトル      BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
 雑誌        Genome Res 25:155-66 (2015)
 DOI:<a href=""https://doi.org/10.1101/gr.176925.114"">10.1101/gr.176925.114</a>"
H02272,CAPOS 症候群,,,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. An identical heterozygous missense mutation in ATP1A3 gene was found in CAPOS patients.",先天奇形,,ATP1A3 [HSA:478] [KO:K01539],,,,,,"ICD-11: LD20.0Y
 ICD-10: Q07.8
 MeSH: C535351
 OMIM: 601338","PMID:24468074
 著者        Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM
 タイトル      A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
 雑誌        Orphanet J Rare Dis 9:15 (2014)
 DOI:10.1186/1750-1172-9-15
 PMID:8733056
 著者        Nicolaides P, Appleton RE, Fryer A
 タイトル      Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
 雑誌        J Med Genet 33:419-21 (1996)
 DOI:10.1136/jmg.33.5.419","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02272"">H02272</a>",CAPOS 症候群,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. An identical heterozygous missense mutation in ATP1A3 gene was found in CAPOS patients.",,"ATP1A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:478"">478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01539"">K01539</a>]",,,,,,"ICD-11: LD20.0Y
 ICD-10: Q07.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535351"">C535351</a>
 OMIM: <a href=""https://www.omim.org/entry/601338"">601338</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24468074"">24468074</a>
 著者        Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM
 タイトル      A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
 雑誌        Orphanet J Rare Dis 9:15 (2014)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-9-15"">10.1186/1750-1172-9-15</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8733056"">8733056</a>
 著者        Nicolaides P, Appleton RE, Fryer A
 タイトル      Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
 雑誌        J Med Genet 33:419-21 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.5.419"">10.1136/jmg.33.5.419</a>"
H02273,精神遅滞を伴う非進行性小脳失調,,,"Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.",神経系疾患,,CAMTA1 [HSA:23261] [KO:K21596],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.0
 OMIM: 614756","PMID:24738973
 著者        Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H
 タイトル      Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
 雑誌        Clin Genet 87:478-82 (2015)
 DOI:10.1111/cge.12407
 PMID:22693284
 著者        Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C
 タイトル      Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
 雑誌        J Med Genet 49:400-8 (2012)
 DOI:10.1136/jmedgenet-2012-100856","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02273"">H02273</a>",精神遅滞を伴う非進行性小脳失調,"Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.",,"CAMTA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23261"">23261</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21596"">K21596</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.0
 OMIM: <a href=""https://www.omim.org/entry/614756"">614756</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24738973"">24738973</a>
 著者        Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H
 タイトル      Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
 雑誌        Clin Genet 87:478-82 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12407"">10.1111/cge.12407</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22693284"">22693284</a>
 著者        Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C
 タイトル      Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
 雑誌        J Med Genet 49:400-8 (2012)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-100856"">10.1136/jmedgenet-2012-100856</a>"
H02274,小脳萎縮、視力障害および精神運動発達遅滞,,,"Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have been recently implicated in individuals affected with CAVIPMR.",先天奇形,,EMC1 [HSA:23065] [KO:K23562],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 616875","PMID:26942288
 著者        Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR
 タイトル      Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
 雑誌        Am J Hum Genet 98:562-570 (2016)
 DOI:10.1016/j.ajhg.2016.01.011
 PMID:29271071
 著者        Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R
 タイトル      A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
 雑誌        Mol Genet Genomic Med 6:282-287 (2018)
 DOI:10.1002/mgg3.352","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02274"">H02274</a>",小脳萎縮、視力障害および精神運動発達遅滞,"Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have been recently implicated in individuals affected with CAVIPMR.",,"EMC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23065"">23065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23562"">K23562</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/616875"">616875</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26942288"">26942288</a>
 著者        Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR
 タイトル      Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
 雑誌        Am J Hum Genet 98:562-570 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.01.011"">10.1016/j.ajhg.2016.01.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29271071"">29271071</a>
 著者        Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R
 タイトル      A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
 雑誌        Mol Genet Genomic Med 6:282-287 (2018)
 DOI:<a href=""https://doi.org/10.1002/mgg3.352"">10.1002/mgg3.352</a>"
H02275,"バッテン病;
 Spielmeyer-Vogt 病;
 若年型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:H00149]
 進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.",先天性代謝異常症,,CLN3 [HSA:1201] [KO:K12389],,,,,"Although Batten disease is usually regarded as JNCL, some physicians use the term Batten disease to describe all forms of NCL.","ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: D009472
 OMIM: 204200","PMID:22545070
 著者        Cotman SL, Staropoli JF
 タイトル      The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
 雑誌        Clin Lipidol 7:79-91 (2012)
 DOI:10.2217/clp.11.70
 PMID:24014508
 著者        Adams HR, Mink JW
 タイトル      Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
 雑誌        J Child Neurol 28:1128-36 (2013)
 DOI:10.1177/0883073813494813
 PMID:9004140
 著者        Jarvela I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvanen AC
 タイトル      Rapid diagnostic test for the major mutation underlying Batten disease.
 雑誌        J Med Genet 33:1041-2 (1996)
 DOI:10.1136/jmg.33.12.1041","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02275"">H02275</a>","バッテン病;
 Spielmeyer-Vogt 病;
 若年型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.",,"CLN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1201"">1201</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12389"">K12389</a>]",,,,,"Although Batten disease is usually regarded as JNCL, some physicians use the term Batten disease to describe all forms of NCL.","ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009472"">D009472</a>
 OMIM: <a href=""https://www.omim.org/entry/204200"">204200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22545070"">22545070</a>
 著者        Cotman SL, Staropoli JF
 タイトル      The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
 雑誌        Clin Lipidol 7:79-91 (2012)
 DOI:<a href=""https://doi.org/10.2217/clp.11.70"">10.2217/clp.11.70</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24014508"">24014508</a>
 著者        Adams HR, Mink JW
 タイトル      Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
 雑誌        J Child Neurol 28:1128-36 (2013)
 DOI:<a href=""https://doi.org/10.1177/0883073813494813"">10.1177/0883073813494813</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9004140"">9004140</a>
 著者        Jarvela I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvanen AC
 タイトル      Rapid diagnostic test for the major mutation underlying Batten disease.
 雑誌        J Med Genet 33:1041-2 (1996)
 DOI:<a href=""https://doi.org/10.1136/jmg.33.12.1041"">10.1136/jmg.33.12.1041</a>"
H02276,"Kufs 病;
 成人型神経セロイドリポフスチン症
 下位グループ    神経セロイドリポフスチン症 4A型
 神経セロイドリポフスチン症 4B型
 神経セロイドリポフスチン症 13型
 上位グループ    神経セロイドリポフスチン症 [DS:H00149]
 進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided into two types. Type A presents with progressive myoclonus epilepsy, whereas type B presents with dementia and a variety of motor disturbances. It has been reported that mutations in CLN6 cause recessive type A Kufs disease. Mutations in DNAJC5 have been found in some cases of dominant Kufs disease, also presenting with progressive myoclonus epilepsy. Mutations in CTSF were recently identified in recessive type B Kufs disease.",先天性代謝異常症,,"CLN6 [HSA:54982] [KO:K12359]
 DNAJC5 [HSA:80331] [KO:K09525]
 CTSF [HSA:8722] [KO:K01373]",,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: D009472
 OMIM: 204300 162350 615362","PMID:21549341
 著者        Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF
 タイトル      Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
 雑誌        Am J Hum Genet 88:566-73 (2011)
 DOI:10.1016/j.ajhg.2011.04.004
 PMID:21820099
 著者        Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S
 タイトル      Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Am J Hum Genet 89:241-52 (2011)
 DOI:10.1016/j.ajhg.2011.07.003
 PMID:23297359
 著者        Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M
 タイトル      Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Hum Mol Genet 22:1417-23 (2013)
 DOI:10.1093/hmg/dds558","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02276"">H02276</a>","Kufs 病;
 成人型神経セロイドリポフスチン症
 下位グループ    神経セロイドリポフスチン症 4A型
 神経セロイドリポフスチン症 4B型
 神経セロイドリポフスチン症 13型
 上位グループ    神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided into two types. Type A presents with progressive myoclonus epilepsy, whereas type B presents with dementia and a variety of motor disturbances. It has been reported that mutations in CLN6 cause recessive type A Kufs disease. Mutations in DNAJC5 have been found in some cases of dominant Kufs disease, also presenting with progressive myoclonus epilepsy. Mutations in CTSF were recently identified in recessive type B Kufs disease.",,"CLN6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54982"">54982</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12359"">K12359</a>]
 DNAJC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80331"">80331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09525"">K09525</a>]
 CTSF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8722"">8722</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01373"">K01373</a>]",,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009472"">D009472</a>
 OMIM: <a href=""https://www.omim.org/entry/204300"">204300</a> <a href=""https://www.omim.org/entry/162350"">162350</a> <a href=""https://www.omim.org/entry/615362"">615362</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21549341"">21549341</a>
 著者        Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF
 タイトル      Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
 雑誌        Am J Hum Genet 88:566-73 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.004"">10.1016/j.ajhg.2011.04.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820099"">21820099</a>
 著者        Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S
 タイトル      Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Am J Hum Genet 89:241-52 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.003"">10.1016/j.ajhg.2011.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23297359"">23297359</a>
 著者        Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M
 タイトル      Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
 雑誌        Hum Mol Genet 22:1417-23 (2013)
 DOI:<a href=""https://doi.org/10.1093/hmg/dds558"">10.1093/hmg/dds558</a>"
H02277,"Santavuori-Haltia 病;
 乳児型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:H00149]
 進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.",先天性代謝異常症,,PPT1 [HSA:5538] [KO:K01074],,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: D009472
 OMIM: 256730","PMID:4371326
 著者        Santavuori P, Haltia M, Rapola J
 タイトル      Infantile type of so-called neuronal ceroid-lipofuscinosis.
 雑誌        Dev Med Child Neurol 16:644-53 (1974)
 DOI:10.1111/j.1469-8749.1974.tb04183.x
 PMID:16571600
 著者        Kim SJ, Zhang Z, Lee YC, Mukherjee AB
 タイトル      Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
 雑誌        Hum Mol Genet 15:1580-6 (2006)
 DOI:10.1093/hmg/ddl078","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02277"">H02277</a>","Santavuori-Haltia 病;
 乳児型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.",,"PPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5538"">5538</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01074"">K01074</a>]",,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009472"">D009472</a>
 OMIM: <a href=""https://www.omim.org/entry/256730"">256730</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4371326"">4371326</a>
 著者        Santavuori P, Haltia M, Rapola J
 タイトル      Infantile type of so-called neuronal ceroid-lipofuscinosis.
 雑誌        Dev Med Child Neurol 16:644-53 (1974)
 DOI:<a href=""https://doi.org/10.1111/j.1469-8749.1974.tb04183.x"">10.1111/j.1469-8749.1974.tb04183.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16571600"">16571600</a>
 著者        Kim SJ, Zhang Z, Lee YC, Mukherjee AB
 タイトル      Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
 雑誌        Hum Mol Genet 15:1580-6 (2006)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddl078"">10.1093/hmg/ddl078</a>"
H02278,"Jansky-Bielschowsky 病;
 遅発性乳児型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:H00149]
 進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. Clinical symptoms include seizures, progressive encephalopathy, visual failure, and motor abnormalities. Mutations in the TPP1 gene, that encodes the lysosomal enzyme tripeptidyl-peptidase 1, cause this disease.",先天性代謝異常症,,TPP1 [HSA:1200] [KO:K01279],,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: D009472
 OMIM: 204500","PMID:23266810
 著者        Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramirez AM, Noher de Halac I
 タイトル      Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
 雑誌        Gene 516:114-21 (2013)
 DOI:10.1016/j.gene.2012.12.058
 PMID:8213822
 著者        Williams R, Vesa J, Jarvela I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, et al.
 タイトル      Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
 雑誌        Am J Hum Genet 53:931-5 (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02278"">H02278</a>","Jansky-Bielschowsky 病;
 遅発性乳児型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. Clinical symptoms include seizures, progressive encephalopathy, visual failure, and motor abnormalities. Mutations in the TPP1 gene, that encodes the lysosomal enzyme tripeptidyl-peptidase 1, cause this disease.",,"TPP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1200"">1200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01279"">K01279</a>]",,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009472"">D009472</a>
 OMIM: <a href=""https://www.omim.org/entry/204500"">204500</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23266810"">23266810</a>
 著者        Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramirez AM, Noher de Halac I
 タイトル      Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
 雑誌        Gene 516:114-21 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2012.12.058"">10.1016/j.gene.2012.12.058</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8213822"">8213822</a>
 著者        Williams R, Vesa J, Jarvela I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, et al.
 タイトル      Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
 雑誌        Am J Hum Genet 53:931-5 (1993)"
H02279,"カテプシン D 欠損
 下位グループ    先天型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:H00149]
 進行性ミオクローヌスてんかん [DS:H00810]
 ライソゾーム病 (リソソーム蓄積症) [DS:H01425]",,,"Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon after birth. Cathepsin D is a lysosomal protein encoded by the CTSD gene. Recently, novel mutations in CTSD with a juvenile onset of NCL have been reported.",先天性代謝異常症,,CTSD [HSA:1509] [KO:K01379],,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: C566438
 OMIM: 610127","PMID:16670177
 著者        Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J
 タイトル      Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
 雑誌        Brain 129:1438-45 (2006)
 DOI:10.1093/brain/awl107
 PMID:25298308
 著者        Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H
 タイトル      Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
 雑誌        Neurology 83:1873-5 (2014)
 DOI:10.1212/WNL.0000000000000981","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02279"">H02279</a>","カテプシン D 欠損
 下位グループ    先天型神経セロイドリポフスチン症
 上位グループ    神経セロイドリポフスチン症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00149"">H00149</a>]
 進行性ミオクローヌスてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00810"">H00810</a>]
 ライソゾーム病 (リソソーム蓄積症) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01425"">H01425</a>]","Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon after birth. Cathepsin D is a lysosomal protein encoded by the CTSD gene. Recently, novel mutations in CTSD with a juvenile onset of NCL have been reported.",,"CTSD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1509"">1509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01379"">K01379</a>]",,,,,,"ICD-11: 5C56.1
 ICD-10: E75.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566438"">C566438</a>
 OMIM: <a href=""https://www.omim.org/entry/610127"">610127</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16670177"">16670177</a>
 著者        Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J
 タイトル      Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
 雑誌        Brain 129:1438-45 (2006)
 DOI:<a href=""https://doi.org/10.1093/brain/awl107"">10.1093/brain/awl107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25298308"">25298308</a>
 著者        Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H
 タイトル      Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
 雑誌        Neurology 83:1873-5 (2014)
 DOI:<a href=""https://doi.org/10.1212/WNL.0000000000000981"">10.1212/WNL.0000000000000981</a>"
H02280,"複合性致死性骨軟骨異形成症;
 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck 型",,,"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development. First, it affects intracellular protein trafficking and organization of cellular organelles. Second, TAPT1 could play a role in ciliary assembly and signaling, and influence osteoblast and/or chondrocyte differentiation.",先天奇形,,TAPT1 [HSA:202018] [KO:K23404],,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: 616897","PMID:26365339
 著者        Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ
 タイトル      Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
 雑誌        Am J Hum Genet 97:521-34 (2015)
 DOI:10.1016/j.ajhg.2015.08.009","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02280"">H02280</a>","複合性致死性骨軟骨異形成症;
 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck 型","Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development. First, it affects intracellular protein trafficking and organization of cellular organelles. Second, TAPT1 could play a role in ciliary assembly and signaling, and influence osteoblast and/or chondrocyte differentiation.",,"TAPT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:202018"">202018</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23404"">K23404</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: <a href=""https://www.omim.org/entry/616897"">616897</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26365339"">26365339</a>
 著者        Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ
 タイトル      Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
 雑誌        Am J Hum Genet 97:521-34 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.08.009"">10.1016/j.ajhg.2015.08.009</a>"
H02281,"正常汗腺を伴う単独無汗症;
 Dann-Epstein-Sohar 症候群",,,"Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) is very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum.",皮膚疾患,,ITPR2 [HSA:3709] [KO:K04959],,,,,,"ICD-11: EE01.Y
 ICD-10: L74.4
 MeSH: D007007
 OMIM: 106190","PMID:2401610
 著者        Dann EJ, Epstein Y, Sohar E
 タイトル      Familial generalized anhidrosis.
 雑誌        Isr J Med Sci 26:451-3 (1990)
 PMID:25329695
 著者        Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N
 タイトル      Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
 雑誌        J Clin Invest 124:4773-80 (2014)
 DOI:10.1172/JCI70720","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02281"">H02281</a>","正常汗腺を伴う単独無汗症;
 Dann-Epstein-Sohar 症候群","Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) is very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum.",,"ITPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3709"">3709</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04959"">K04959</a>]",,,,,,"ICD-11: EE01.Y
 ICD-10: L74.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007007"">D007007</a>
 OMIM: <a href=""https://www.omim.org/entry/106190"">106190</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2401610"">2401610</a>
 著者        Dann EJ, Epstein Y, Sohar E
 タイトル      Familial generalized anhidrosis.
 雑誌        Isr J Med Sci 26:451-3 (1990)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25329695"">25329695</a>
 著者        Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N
 タイトル      Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
 雑誌        J Clin Invest 124:4773-80 (2014)
 DOI:<a href=""https://doi.org/10.1172/JCI70720"">10.1172/JCI70720</a>"
H02282,痙性四肢麻痺、脳梁の菲薄化および進行性小頭症,,,"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter, are associated with this syndrome. L-serine plays an essential role in neuronal development and function.",先天奇形,,SLC1A4 [HSA:6509] [KO:K05615],,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: D011782
 OMIM: 616657","PMID:26041762
 著者        Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S
 タイトル      Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
 雑誌        J Med Genet 52:541-7 (2015)
 DOI:10.1136/jmedgenet-2015-103104
 PMID:26138499
 著者        Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B
 タイトル      SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
 雑誌        Clin Genet 88:327-35 (2015)
 DOI:10.1111/cge.12637","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02282"">H02282</a>",痙性四肢麻痺、脳梁の菲薄化および進行性小頭症,"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter, are associated with this syndrome. L-serine plays an essential role in neuronal development and function.",,"SLC1A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6509"">6509</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05615"">K05615</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q02
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011782"">D011782</a>
 OMIM: <a href=""https://www.omim.org/entry/616657"">616657</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26041762"">26041762</a>
 著者        Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S
 タイトル      Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
 雑誌        J Med Genet 52:541-7 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103104"">10.1136/jmedgenet-2015-103104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26138499"">26138499</a>
 著者        Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B
 タイトル      SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
 雑誌        Clin Genet 88:327-35 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12637"">10.1111/cge.12637</a>"
H02283,IVIC 症候群,,,"The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.",先天奇形,,SALL4 [HSA:57167] [KO:K19871],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 147750","PMID:7395922
 著者        Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S
 タイトル      The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
 雑誌        Am J Med Genet 6:25-59 (1980)
 DOI:10.1002/ajmg.1320060105
 PMID:17256792
 著者        Paradisi I, Arias S
 タイトル      IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
 雑誌        Am J Med Genet A 143:326-32 (2007)
 DOI:10.1002/ajmg.a.31603","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02283"">H02283</a>",IVIC 症候群,"The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.",,"SALL4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57167"">57167</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19871"">K19871</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/147750"">147750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7395922"">7395922</a>
 著者        Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S
 タイトル      The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
 雑誌        Am J Med Genet 6:25-59 (1980)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320060105"">10.1002/ajmg.1320060105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17256792"">17256792</a>
 著者        Paradisi I, Arias S
 タイトル      IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
 雑誌        Am J Med Genet A 143:326-32 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31603"">10.1002/ajmg.a.31603</a>"
H02284,ロイコトリエン C4 合成酵素欠損症,,,"Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.",先天性代謝異常症,,LTC4S [HSA:4056] [KO:K00807],,,,,,"ICD-11: 5C52.0Y
 ICD-10: E75.5
 MeSH: C565439
 OMIM: 614037","PMID:9820300
 著者        Mayatepek E, Flock B
 タイトル      Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome.
 雑誌        Lancet 352:1514-7 (1998)
 DOI:10.1016/S0140-6736(98)01186-6
 PMID:10896305
 著者        Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF
 タイトル      Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism.
 雑誌        J Inherit Metab Dis 23:404-8 (2000)
 DOI:10.1023/A:1005664204956
 PMID:11079193
 著者        Mayatepek E
 タイトル      Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases.
 雑誌        Eur J Pediatr 159:811-8 (2000)
 DOI:10.1007/s004310000601","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02284"">H02284</a>",ロイコトリエン C4 合成酵素欠損症,"Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.",,"LTC4S [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4056"">4056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00807"">K00807</a>]",,,,,,"ICD-11: 5C52.0Y
 ICD-10: E75.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565439"">C565439</a>
 OMIM: <a href=""https://www.omim.org/entry/614037"">614037</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9820300"">9820300</a>
 著者        Mayatepek E, Flock B
 タイトル      Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome.
 雑誌        Lancet 352:1514-7 (1998)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(98)01186-6"">10.1016/S0140-6736(98)01186-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10896305"">10896305</a>
 著者        Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF
 タイトル      Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism.
 雑誌        J Inherit Metab Dis 23:404-8 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005664204956"">1005664204956</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11079193"">11079193</a>
 著者        Mayatepek E
 タイトル      Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases.
 雑誌        Eur J Pediatr 159:811-8 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004310000601"">10.1007/s004310000601</a>"
H02285,メチルマロン酸セミアルデヒド脱水素酵素欠損症,,,"Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, and methylmalonic acids, as well as beta-alanine. Reported clinical presentations vary from a mild or uneventful clinical course. Severe developmental delay may be present. Dysmorphic facial features and congenital brain dysgenesis with intracerebral calcifications have also been described. Mutations in the ALDH6A1 gene coding for MMSDH are associated with this disease.",先天性代謝異常症,"nt06024  Valine, leucine and isoleucine degradation",ALDH6A1 [HSA:4329] [KO:K00140],,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: C566402
 OMIM: 614105","PMID:10947204
 著者        Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
 タイトル      Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
 雑誌        J Inherit Metab Dis 23:497-504 (2000)
 DOI:10.1023/A:1005616315087
 PMID:23835272
 著者        Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT
 タイトル      Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
 雑誌        Orphanet J Rare Dis 8:98 (2013)
 DOI:10.1186/1750-1172-8-98
 PMID:21863277
 著者        Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD
 タイトル      3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
 雑誌        J Inherit Metab Dis 35:437-42 (2012)
 DOI:10.1007/s10545-011-9381-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02285"">H02285</a>",メチルマロン酸セミアルデヒド脱水素酵素欠損症,"Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic, and methylmalonic acids, as well as beta-alanine. Reported clinical presentations vary from a mild or uneventful clinical course. Severe developmental delay may be present. Dysmorphic facial features and congenital brain dysgenesis with intracerebral calcifications have also been described. Mutations in the ALDH6A1 gene coding for MMSDH are associated with this disease.","<a href=""https://www.kegg.jp/network/nt06024"">nt06024</a>  Valine, leucine and isoleucine degradation","ALDH6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4329"">4329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00140"">K00140</a>]",,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566402"">C566402</a>
 OMIM: <a href=""https://www.omim.org/entry/614105"">614105</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10947204"">10947204</a>
 著者        Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
 タイトル      Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
 雑誌        J Inherit Metab Dis 23:497-504 (2000)
 DOI:<a href=""https://doi.org/10.1023/A:"">10.1023/A:</a><a href=""https://doi.org/1005616315087"">1005616315087</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23835272"">23835272</a>
 著者        Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT
 タイトル      Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
 雑誌        Orphanet J Rare Dis 8:98 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-98"">10.1186/1750-1172-8-98</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21863277"">21863277</a>
 著者        Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD
 タイトル      3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
 雑誌        J Inherit Metab Dis 35:437-42 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10545-011-9381-x"">10.1007/s10545-011-9381-x</a>"
H02286,"内耳形成不全、小耳症、および小歯症を伴う先天性難聴;
 LAMM を伴う難聴",,,"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth factor (FGF) signals are required for expression of otic placode genes and for otic placode induction and vesicle formation.",先天奇形,,FGF3 [HSA:2248] [KO:K04358],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q16.5
 MeSH: C565195
 OMIM: 610706","PMID:18701883
 著者        Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M
 タイトル      Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
 雑誌        Eur J Hum Genet 17:14-21 (2009)
 DOI:10.1038/ejhg.2008.141
 PMID:21480479
 著者        Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A
 タイトル      LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
 雑誌        Am J Med Genet A 155A:1096-101 (2011)
 DOI:10.1002/ajmg.a.33962","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02286"">H02286</a>","内耳形成不全、小耳症、および小歯症を伴う先天性難聴;
 LAMM を伴う難聴","Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth factor (FGF) signals are required for expression of otic placode genes and for otic placode induction and vesicle formation.",,"FGF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2248"">2248</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04358"">K04358</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q16.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565195"">C565195</a>
 OMIM: <a href=""https://www.omim.org/entry/610706"">610706</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18701883"">18701883</a>
 著者        Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M
 タイトル      Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
 雑誌        Eur J Hum Genet 17:14-21 (2009)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2008.141"">10.1038/ejhg.2008.141</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21480479"">21480479</a>
 著者        Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A
 タイトル      LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
 雑誌        Am J Med Genet A 155A:1096-101 (2011)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33962"">10.1002/ajmg.a.33962</a>"
H02287,"難聴、ジストニアおよび脳ミエリン形成不全症
 下位グループ    ABCD1/DXS1375E 連続欠失症候群
 CADDS",,,"Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.",先天奇形,,BCAP31 [HSA:10134] [KO:K14009],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 OMIM: 300475","PMID:24011989
 著者        Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L
 タイトル      Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
 雑誌        Am J Hum Genet 93:579-86 (2013)
 DOI:10.1016/j.ajhg.2013.07.023
 PMID:11992258
 著者        Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ
 タイトル      Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
 雑誌        Am J Hum Genet 70:1520-31 (2002)
 DOI:10.1086/340849","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02287"">H02287</a>","難聴、ジストニアおよび脳ミエリン形成不全症
 下位グループ    ABCD1/DXS1375E 連続欠失症候群
 CADDS","Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.",,"BCAP31 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10134"">10134</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14009"">K14009</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/300475"">300475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24011989"">24011989</a>
 著者        Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L
 タイトル      Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
 雑誌        Am J Hum Genet 93:579-86 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.07.023"">10.1016/j.ajhg.2013.07.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11992258"">11992258</a>
 著者        Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ
 タイトル      Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
 雑誌        Am J Hum Genet 70:1520-31 (2002)
 DOI:<a href=""https://doi.org/10.1086/340849"">10.1086/340849</a>"
H02288,網膜内層の機能障害と神経節細胞異常を伴う網膜ジストロフィー,,,Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense mutation in ITM2B causes RDGCA.,神経系疾患,,ITM2B [HSA:9445] [KO:K18264],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: 616079","PMID:24026677
 著者        Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Leveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Said S, Bhattacharya SS, Sahel JA, Zeitz C
 タイトル      The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
 雑誌        Hum Mol Genet 23:491-501 (2014)
 DOI:10.1093/hmg/ddt439","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02288"">H02288</a>",網膜内層の機能障害と神経節細胞異常を伴う網膜ジストロフィー,Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense mutation in ITM2B causes RDGCA.,,"ITM2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9445"">9445</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18264"">K18264</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/616079"">616079</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24026677"">24026677</a>
 著者        Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Leveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Said S, Bhattacharya SS, Sahel JA, Zeitz C
 タイトル      The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
 雑誌        Hum Mol Genet 23:491-501 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddt439"">10.1093/hmg/ddt439</a>"
H02289,眼球外の奇形を伴う（または伴わない）網膜ジストロフィー,,,"Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor.",神経系疾患,,RCBTB1 [HSA:55213] [KO:K11494],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: 617175","PMID:27486781
 著者        Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E
 タイトル      Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
 雑誌        Am J Hum Genet 99:470-80 (2016)
 DOI:10.1016/j.ajhg.2016.06.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02289"">H02289</a>",眼球外の奇形を伴う（または伴わない）網膜ジストロフィー,"Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor.",,"RCBTB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55213"">55213</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11494"">K11494</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/617175"">617175</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27486781"">27486781</a>
 著者        Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E
 タイトル      Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
 雑誌        Am J Hum Genet 99:470-80 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.017"">10.1016/j.ajhg.2016.06.017</a>"
H02290,先天性白内障を伴う網膜ジストロフィーおよび虹彩欠損症,,,"Retinal dystrophy and iris coloboma with congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in microRNA-204 (miR-204) has been identified in all affected individuals. It has been demonstrated that miR-204 is necessary for normal photoreceptor function.",神経系疾患,,MIR204 [HSA:406987] [KO:K17166],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: 616722","PMID:26056285
 著者        Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC
 タイトル      MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
 雑誌        Proc Natl Acad Sci U S A 112:E3236-45 (2015)
 DOI:10.1073/pnas.1401464112","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02290"">H02290</a>",先天性白内障を伴う網膜ジストロフィーおよび虹彩欠損症,"Retinal dystrophy and iris coloboma with congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in microRNA-204 (miR-204) has been identified in all affected individuals. It has been demonstrated that miR-204 is necessary for normal photoreceptor function.",,"MIR204 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:406987"">406987</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17166"">K17166</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/616722"">616722</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26056285"">26056285</a>
 著者        Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC
 タイトル      MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
 雑誌        Proc Natl Acad Sci U S A 112:E3236-45 (2015)
 DOI:<a href=""https://doi.org/10.1073/pnas.1401464112"">10.1073/pnas.1401464112</a>"
H02291,網膜ジストロフィー、虹彩欠損、および座瘡症候群,,,"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) is an early onset, progressive, and severe autosomal recessive retinitis pigmentosa. It is characterized by developmental abnormalities including patent ductus arteriosus and chorioretinal and iris colobomas. Some developed severe acne. In addition, the patients exhibited severe vitamin A deficiency, and diminished serum retinol levels. A homozygous splice site variant in the gene encoding retinol binding protein (RBP4) has been identified. RBP4 is the carrier of retinol in human plasma and is involved in transport of retinol from liver to peripheral tissue including the retina.",神経系疾患,,RBP4 [HSA:5950] [KO:K18271],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: 615147","PMID:10232633
 著者        Biesalski HK, Frank J, Beck SC, Heinrich F, Illek B, Reifen R, Gollnick H, Seeliger MW, Wissinger B, Zrenner E
 タイトル      Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.
 雑誌        Am J Clin Nutr 69:931-6 (1999)
 DOI:10.1093/ajcn/69.5.931
 PMID:23189188
 著者        Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R
 タイトル      Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
 雑誌        PLoS One 7:e50205 (2012)
 DOI:10.1371/journal.pone.0050205","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02291"">H02291</a>",網膜ジストロフィー、虹彩欠損、および座瘡症候群,"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) is an early onset, progressive, and severe autosomal recessive retinitis pigmentosa. It is characterized by developmental abnormalities including patent ductus arteriosus and chorioretinal and iris colobomas. Some developed severe acne. In addition, the patients exhibited severe vitamin A deficiency, and diminished serum retinol levels. A homozygous splice site variant in the gene encoding retinol binding protein (RBP4) has been identified. RBP4 is the carrier of retinol in human plasma and is involved in transport of retinol from liver to peripheral tissue including the retina.",,"RBP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5950"">5950</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18271"">K18271</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 OMIM: <a href=""https://www.omim.org/entry/615147"">615147</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10232633"">10232633</a>
 著者        Biesalski HK, Frank J, Beck SC, Heinrich F, Illek B, Reifen R, Gollnick H, Seeliger MW, Wissinger B, Zrenner E
 タイトル      Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.
 雑誌        Am J Clin Nutr 69:931-6 (1999)
 DOI:<a href=""https://doi.org/10.1093/ajcn/69.5.931"">10.1093/ajcn/69.5.931</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23189188"">23189188</a>
 著者        Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R
 タイトル      Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
 雑誌        PLoS One 7:e50205 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0050205"">10.1371/journal.pone.0050205</a>"
H02292,網膜ジストロフィー、若年性白内障、低身長症候群,,,"Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle.",先天奇形,,RDH11 [HSA:51109] [KO:K11152],,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.8
 OMIM: 616108","PMID:24916380
 著者        Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R
 タイトル      New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
 雑誌        Hum Mol Genet 23:5774-80 (2014)
 DOI:10.1093/hmg/ddu291","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02292"">H02292</a>",網膜ジストロフィー、若年性白内障、低身長症候群,"Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle.",,"RDH11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51109"">51109</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11152"">K11152</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616108"">616108</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24916380"">24916380</a>
 著者        Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R
 タイトル      New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
 雑誌        Hum Mol Genet 23:5774-80 (2014)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddu291"">10.1093/hmg/ddu291</a>"
H02293,痙性対麻痺・精神運動発達遅滞・てんかん症候群,,,"Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.",神経系疾患,,HACE1 [HSA:57531] [KO:K12166],,,,,,"ICD-11: 8B44.01
 ICD-10: G11.4
 OMIM: 616756","PMID:26437029
 著者        Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME
 タイトル      Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
 雑誌        Nat Genet 47:1363-9 (2015)
 DOI:10.1038/ng.3410
 PMID:26424145
 著者        Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT
 タイトル      HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
 雑誌        J Med Genet 52:797-803 (2015)
 DOI:10.1136/jmedgenet-2015-103344","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02293"">H02293</a>",痙性対麻痺・精神運動発達遅滞・てんかん症候群,"Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.",,"HACE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57531"">57531</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12166"">K12166</a>]",,,,,,"ICD-11: 8B44.01
 ICD-10: G11.4
 OMIM: <a href=""https://www.omim.org/entry/616756"">616756</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26437029"">26437029</a>
 著者        Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME
 タイトル      Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
 雑誌        Nat Genet 47:1363-9 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3410"">10.1038/ng.3410</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26424145"">26424145</a>
 著者        Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT
 タイトル      HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
 雑誌        J Med Genet 52:797-803 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103344"">10.1136/jmedgenet-2015-103344</a>"
H02294,Tatton-Brown-Rahman 症候群,,,"Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.",先天奇形,,DNMT3A [HSA:1788] [KO:K17398],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 615879","PMID:27991732
 著者        Kosaki R, Terashima H, Kubota M, Kosaki K
 タイトル      Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
 雑誌        Am J Med Genet A 173:250-253 (2017)
 DOI:10.1002/ajmg.a.37995
 PMID:24614070
 著者        Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N, van Montfort R, Rahman N
 タイトル      Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
 雑誌        Nat Genet 46:385-8 (2014)
 DOI:10.1038/ng.2917","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02294"">H02294</a>",Tatton-Brown-Rahman 症候群,"Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.",,"DNMT3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/615879"">615879</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27991732"">27991732</a>
 著者        Kosaki R, Terashima H, Kubota M, Kosaki K
 タイトル      Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
 雑誌        Am J Med Genet A 173:250-253 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37995"">10.1002/ajmg.a.37995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24614070"">24614070</a>
 著者        Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N, van Montfort R, Rahman N
 タイトル      Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
 雑誌        Nat Genet 46:385-8 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2917"">10.1038/ng.2917</a>"
H02295,指紋欠如疾患,,,Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.,先天奇形,,SMARCAD1 [HSA:56916] [KO:K14439],,,,,,"ICD-11: LC7Y
 ICD-10: Q82.8
 OMIM: 136000","PMID:21820097
 著者        Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E
 タイトル      A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
 雑誌        Am J Hum Genet 89:302-7 (2011)
 DOI:10.1016/j.ajhg.2011.07.004
 PMID:24909267
 著者        Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E
 タイトル      Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
 雑誌        Br J Dermatol 171:1521-4 (2014)
 DOI:10.1111/bjd.13176","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02295"">H02295</a>",指紋欠如疾患,Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.,,"SMARCAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56916"">56916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14439"">K14439</a>]",,,,,,"ICD-11: LC7Y
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/136000"">136000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21820097"">21820097</a>
 著者        Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E
 タイトル      A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
 雑誌        Am J Hum Genet 89:302-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.07.004"">10.1016/j.ajhg.2011.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24909267"">24909267</a>
 著者        Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E
 タイトル      Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
 雑誌        Br J Dermatol 171:1521-4 (2014)
 DOI:<a href=""https://doi.org/10.1111/bjd.13176"">10.1111/bjd.13176</a>"
H02296,"Basan 症候群;
 皮膚紋理を欠く外胚葉異形成症",,,"Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.",先天奇形,,SMARCAD1 [HSA:56916] [KO:K14439],,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: C537659
 OMIM: 129200","PMID:26932190
 著者        Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z
 タイトル      Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.
 雑誌        Eur J Hum Genet 24:1367-70 (2016)
 DOI:10.1038/ejhg.2016.15
 PMID:24664640
 著者        Marks KC, Banks WR 3rd, Cunningham D, Witman PM, Herman GE
 タイトル      Analysis of two candidate genes for Basan syndrome.
 雑誌        Am J Med Genet A 164A:1188-91 (2014)
 DOI:10.1002/ajmg.a.36438","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02296"">H02296</a>","Basan 症候群;
 皮膚紋理を欠く外胚葉異形成症","Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.",,"SMARCAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56916"">56916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14439"">K14439</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537659"">C537659</a>
 OMIM: <a href=""https://www.omim.org/entry/129200"">129200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26932190"">26932190</a>
 著者        Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z
 タイトル      Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.
 雑誌        Eur J Hum Genet 24:1367-70 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.15"">10.1038/ejhg.2016.15</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24664640"">24664640</a>
 著者        Marks KC, Banks WR 3rd, Cunningham D, Witman PM, Herman GE
 タイトル      Analysis of two candidate genes for Basan syndrome.
 雑誌        Am J Med Genet A 164A:1188-91 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36438"">10.1002/ajmg.a.36438</a>"
H02297,CLAPO 症候群,,,"CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA.",先天奇形,,PIK3CA [HSA:5290] [KO:K00922],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: C567763
 OMIM: 613089","PMID:18798326
 著者        Lopez-Gutierrez JC, Lapunzina P
 タイトル      Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.
 雑誌        Am J Med Genet A 146A:2583-8 (2008)
 DOI:10.1002/ajmg.a.32517
 PMID:29446767
 著者        Rodriguez-Laguna L, Ibanez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespin E, Fernandez-Montano VE, Martin-Arenas R, Del Pozo A, Gonzalez-Pecellin H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V
 タイトル      CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
 雑誌        Genet Med 20:882-889 (2018)
 DOI:10.1038/gim.2017.200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02297"">H02297</a>",CLAPO 症候群,"CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA.",,"PIK3CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5290"">5290</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00922"">K00922</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567763"">C567763</a>
 OMIM: <a href=""https://www.omim.org/entry/613089"">613089</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18798326"">18798326</a>
 著者        Lopez-Gutierrez JC, Lapunzina P
 タイトル      Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.
 雑誌        Am J Med Genet A 146A:2583-8 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32517"">10.1002/ajmg.a.32517</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29446767"">29446767</a>
 著者        Rodriguez-Laguna L, Ibanez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespin E, Fernandez-Montano VE, Martin-Arenas R, Del Pozo A, Gonzalez-Pecellin H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V
 タイトル      CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
 雑誌        Genet Med 20:882-889 (2018)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.200"">10.1038/gim.2017.200</a>"
H02298,巨頭症・顔貌異常・精神運動発達遅滞,,,"Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.",先天奇形,,HERC1 [HSA:8925] [KO:K10594],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 617011","PMID:27108999
 著者        Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A
 タイトル      A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
 雑誌        Am J Med Genet A 170:1868-73 (2016)
 DOI:10.1002/ajmg.a.37654
 PMID:26138117
 著者        Ortega-Recalde O, Beltran OI, Galvez JM, Palma-Montero A, Restrepo CM, Mateus HE, Laissue P
 タイトル      Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
 雑誌        Clin Genet 88:e1-3 (2015)
 DOI:10.1111/cge.12634","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02298"">H02298</a>",巨頭症・顔貌異常・精神運動発達遅滞,"Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.",,"HERC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8925"">8925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10594"">K10594</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/617011"">617011</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27108999"">27108999</a>
 著者        Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A
 タイトル      A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
 雑誌        Am J Med Genet A 170:1868-73 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37654"">10.1002/ajmg.a.37654</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26138117"">26138117</a>
 著者        Ortega-Recalde O, Beltran OI, Galvez JM, Palma-Montero A, Restrepo CM, Mateus HE, Laissue P
 タイトル      Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
 雑誌        Clin Genet 88:e1-3 (2015)
 DOI:<a href=""https://doi.org/10.1111/cge.12634"">10.1111/cge.12634</a>"
H02299,"先天性多発性関節拘縮症
 下位グループ    AMC1 ミエリン欠損を伴う神経原性型 [DS:H02358]
 AMC2 神経原性型
 AMC3 筋原性型
 AMC4 脳梁欠損を伴う神経原性型
 AMC5",,,Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.,先天奇形,,"(AMC1) LGI4 [HSA:163175] [KO:K25430]
 (AMC2) ERGIC1 [HSA:57222] [KO:K20365]
 (AMC3) SYNE1 [HSA:23345] [KO:K19326]
 (AMC4) SCYL2 [HSA:55681] [KO:K17541]
 (AMC5) TOR1A [HSA:1861] [KO:K22990]",,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 MeSH: C536614
 OMIM: 617468 208100 618484 618766 618947","PMID:11746047
 著者        Tanamy MG, Magal N, Halpern GJ, Jaber L, Shohat M
 タイトル      Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.
 雑誌        Am J Med Genet 104:152-6 (2001)
 DOI:10.1002/ajmg.10030
 PMID:28317099
 著者        Reinstein E, Drasinover V, Lotan R, Gal-Tanamy M, Bolocan Nachman I, Eyal E, Jaber L, Magal N, Shohat M
 タイトル      Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
 雑誌        Clin Genet 93:160-163 (2018)
 DOI:10.1111/cge.13018
 PMID:19542096
 著者        Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J
 タイトル      Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
 雑誌        Hum Mol Genet 18:3462-9 (2009)
 DOI:10.1093/hmg/ddp290
 PMID:31960134
 著者        Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS
 タイトル      Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
 雑誌        Hum Genet 139:513-519 (2020)
 DOI:10.1007/s00439-020-02117-7
 PMID:30244176
 著者        Isik E, Aykut A, Atik T, Cogulu O, Ozkinay F
 タイトル      Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
 雑誌        Eur J Med Genet 62:103544 (2019)
 DOI:10.1016/j.ejmg.2018.09.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02299"">H02299</a>","先天性多発性関節拘縮症
 下位グループ    AMC1 ミエリン欠損を伴う神経原性型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02358"">H02358</a>]
 AMC2 神経原性型
 AMC3 筋原性型
 AMC4 脳梁欠損を伴う神経原性型
 AMC5",Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.,,"(AMC1) LGI4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:163175"">163175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25430"">K25430</a>]
 (AMC2) ERGIC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57222"">57222</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20365"">K20365</a>]
 (AMC3) SYNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23345"">23345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19326"">K19326</a>]
 (AMC4) SCYL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55681"">55681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17541"">K17541</a>]
 (AMC5) TOR1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1861"">1861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22990"">K22990</a>]",,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536614"">C536614</a>
 OMIM: <a href=""https://www.omim.org/entry/617468"">617468</a> <a href=""https://www.omim.org/entry/208100"">208100</a> <a href=""https://www.omim.org/entry/618484"">618484</a> <a href=""https://www.omim.org/entry/618766"">618766</a> <a href=""https://www.omim.org/entry/618947"">618947</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11746047"">11746047</a>
 著者        Tanamy MG, Magal N, Halpern GJ, Jaber L, Shohat M
 タイトル      Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.
 雑誌        Am J Med Genet 104:152-6 (2001)
 DOI:<a href=""https://doi.org/10.1002/ajmg.10030"">10.1002/ajmg.10030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28317099"">28317099</a>
 著者        Reinstein E, Drasinover V, Lotan R, Gal-Tanamy M, Bolocan Nachman I, Eyal E, Jaber L, Magal N, Shohat M
 タイトル      Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
 雑誌        Clin Genet 93:160-163 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13018"">10.1111/cge.13018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19542096"">19542096</a>
 著者        Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J
 タイトル      Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
 雑誌        Hum Mol Genet 18:3462-9 (2009)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddp290"">10.1093/hmg/ddp290</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31960134"">31960134</a>
 著者        Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS
 タイトル      Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
 雑誌        Hum Genet 139:513-519 (2020)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02117-7"">10.1007/s00439-020-02117-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30244176"">30244176</a>
 著者        Isik E, Aykut A, Atik T, Cogulu O, Ozkinay F
 タイトル      Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
 雑誌        Eur J Med Genet 62:103544 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2018.09.011"">10.1016/j.ejmg.2018.09.011</a>"
H02300,Steel 症候群,,,"Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been reported mutations in COL27A1 are responsible for Steel syndrome. COL27A1 encodes the pro-alpha chain of fibrillar collagen type XXVII. It has been suggested that COL27A1 may play an important role during cartilage mineralization.",先天奇形,,COL27A1 [HSA:85301] [KO:K19721],,,,,,"ICD-11: LD24.Y
 ICD-10: Q87.5
 OMIM: 615155","PMID:20357596
 著者        Flynn JM, Ramirez N, Betz R, Mulcahey MJ, Pino F, Herrera-Soto JA, Carlo S, Cornier AS
 タイトル      Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.
 雑誌        J Pediatr Orthop 30:282-8 (2010)
 DOI:10.1097/BPO.0b013e3181d3e464
 PMID:28322503
 著者        Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L
 タイトル      A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
 雑誌        Am J Med Genet A 173:1257-1263 (2017)
 DOI:10.1002/ajmg.a.38153
 PMID:24986830
 著者        Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT
 タイトル      Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
 雑誌        Eur J Hum Genet 23:342-6 (2015)
 DOI:10.1038/ejhg.2014.107","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02300"">H02300</a>",Steel 症候群,"Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been reported mutations in COL27A1 are responsible for Steel syndrome. COL27A1 encodes the pro-alpha chain of fibrillar collagen type XXVII. It has been suggested that COL27A1 may play an important role during cartilage mineralization.",,"COL27A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:85301"">85301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q87.5
 OMIM: <a href=""https://www.omim.org/entry/615155"">615155</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20357596"">20357596</a>
 著者        Flynn JM, Ramirez N, Betz R, Mulcahey MJ, Pino F, Herrera-Soto JA, Carlo S, Cornier AS
 タイトル      Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.
 雑誌        J Pediatr Orthop 30:282-8 (2010)
 DOI:<a href=""https://doi.org/10.1097/BPO.0b013e3181d3e464"">10.1097/BPO.0b013e3181d3e464</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28322503"">28322503</a>
 著者        Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L
 タイトル      A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
 雑誌        Am J Med Genet A 173:1257-1263 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38153"">10.1002/ajmg.a.38153</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24986830"">24986830</a>
 著者        Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT
 タイトル      Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
 雑誌        Eur J Hum Genet 23:342-6 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.107"">10.1038/ejhg.2014.107</a>"
H02301,"腎芽腫;
 ウィルムス腫瘍",,,"Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma comprises three histological components namely blastemal, epithelial and stromal. WT1, a zinc-finger transcription factor, was identified as the first nephroblastoma gene. Several other genes including CTNNB1, WTX, and TP53 have also been implicated in various stages of tumorigenesis of nephroblastoma.",がん,,"(WT1) WT1 [HSA:7490] [KO:K09234]
 (WT5) POU6F2 [HSA:11281] [KO:K09368]
 (WT6) REST [HSA:5978] [KO:K09222]
 CTNNB1 [HSA:1499] [KO:K02105]
 TP53 [HSA:7157] [KO:K04451]
 BRCA2 [HSA:675] [KO:K08775]
 GPC3 [HSA:2719] [KO:K08109]",,,,"イホスファミド [DR:D00343]
 アクチノマイシンD [DR:D00214]
 ドキソルビシン塩酸塩 [DR:D01275]
 ビンクリスチン硫酸塩 [DR:D02197]
 エトポシド [DR:D00125]
 カルボプラチン [DR:D01363]",,"ICD-11: 2C90.Y
 ICD-10: C64
 MeSH: D009396
 OMIM: 194070 601583 616806","PMID:27512769
 著者        Popov SD, Sebire NJ, Vujanic GM
 タイトル      Wilms' Tumour - Histology and Differential Diagnosis
 雑誌        Wilms Tumor (2016)
 DOI:10.15586/codon.wt.2016
 PMID:27512764
 著者        Diniz G
 タイトル      Histopathological and Molecular Characteristics of Wilms Tumor
 雑誌        Wilms Tumor (2016)
 DOI:10.15586/codon.wt.2016
 PMID:20301471
 著者        Dome JS, Huff V
 タイトル      Wilms Tumor Predisposition
 雑誌        GeneReviews (1993)
 PMID:26892980
 著者        Deng C, Dai R, Li X, Liu F
 タイトル      Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review.
 雑誌        Cancer Sci 107:690-9 (2016)
 DOI:10.1111/cas.12910
 PMID:24713986
 著者        Al-Hussain T, Ali A, Akhtar M
 タイトル      Wilms tumor: an update.
 雑誌        Adv Anat Pathol 21:166-73 (2014)
 DOI:10.1097/PAP.0000000000000017
 PMID:22461142
 著者        Royer-Pokora B
 タイトル      Genetics of pediatric renal tumors.
 雑誌        Pediatr Nephrol 28:13-23 (2013)
 DOI:10.1007/s00467-012-2146-4
 PMID:3031816 (WT1)
 著者        Weissman BE, Saxon PJ, Pasquale SR, Jones GR, Geiser AG, Stanbridge EJ
 タイトル      Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression.
 雑誌        Science 236:175-80 (1987)
 DOI:10.1126/science.3031816
 PMID:17164647 (POU6F2)
 著者        Di Renzo F, Doneda L, Menegola E, Sardella M, De Vecchi G, Collini P, Spreafico F, Fossati-Bellani F, Giavini E, Radice P, Perotti D
 タイトル      The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors.
 雑誌        J Pediatr Hematol Oncol 28:791-7 (2006)
 DOI:10.1097/MPH.0b013e31802d3e65
 PMID:26551668 (REST)
 著者        Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N
 タイトル      Mutations in the transcriptional repressor REST predispose to Wilms tumor.
 雑誌        Nat Genet 47:1471-4 (2015)
 DOI:10.1038/ng.3440
 PMID:15689453 (BRCA2)
 著者        Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
 タイトル      Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
 雑誌        J Med Genet 42:147-51 (2005)
 DOI:10.1136/jmg.2004.022673
 PMID:12085187 (GPC3)
 著者        White GR, Kelsey AM, Varley JM, Birch JM
 タイトル      Somatic glypican 3 (GPC3) mutations in Wilms' tumour.
 雑誌        Br J Cancer 86:1920-2 (2002)
 DOI:10.1038/sj.bjc.6600417","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02301"">H02301</a>","腎芽腫;
 ウィルムス腫瘍","Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma comprises three histological components namely blastemal, epithelial and stromal. WT1, a zinc-finger transcription factor, was identified as the first nephroblastoma gene. Several other genes including CTNNB1, WTX, and TP53 have also been implicated in various stages of tumorigenesis of nephroblastoma.",,"(WT1) WT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7490"">7490</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09234"">K09234</a>]
 (WT5) POU6F2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11281"">11281</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09368"">K09368</a>]
 (WT6) REST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5978"">5978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09222"">K09222</a>]
 CTNNB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 GPC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2719"">2719</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08109"">K08109</a>]",,,,"イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 アクチノマイシンD [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00214"">D00214</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 ビンクリスチン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02197"">D02197</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]",,"ICD-11: 2C90.Y
 ICD-10: C64
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009396"">D009396</a>
 OMIM: <a href=""https://www.omim.org/entry/194070"">194070</a> <a href=""https://www.omim.org/entry/601583"">601583</a> <a href=""https://www.omim.org/entry/616806"">616806</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27512769"">27512769</a>
 著者        Popov SD, Sebire NJ, Vujanic GM
 タイトル      Wilms' Tumour - Histology and Differential Diagnosis
 雑誌        Wilms Tumor (2016)
 DOI:<a href=""https://doi.org/10.15586/codon.wt.2016"">10.15586/codon.wt.2016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27512764"">27512764</a>
 著者        Diniz G
 タイトル      Histopathological and Molecular Characteristics of Wilms Tumor
 雑誌        Wilms Tumor (2016)
 DOI:<a href=""https://doi.org/10.15586/codon.wt.2016"">10.15586/codon.wt.2016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301471"">20301471</a>
 著者        Dome JS, Huff V
 タイトル      Wilms Tumor Predisposition
 雑誌        GeneReviews (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26892980"">26892980</a>
 著者        Deng C, Dai R, Li X, Liu F
 タイトル      Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review.
 雑誌        Cancer Sci 107:690-9 (2016)
 DOI:<a href=""https://doi.org/10.1111/cas.12910"">10.1111/cas.12910</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24713986"">24713986</a>
 著者        Al-Hussain T, Ali A, Akhtar M
 タイトル      Wilms tumor: an update.
 雑誌        Adv Anat Pathol 21:166-73 (2014)
 DOI:<a href=""https://doi.org/10.1097/PAP.0000000000000017"">10.1097/PAP.0000000000000017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22461142"">22461142</a>
 著者        Royer-Pokora B
 タイトル      Genetics of pediatric renal tumors.
 雑誌        Pediatr Nephrol 28:13-23 (2013)
 DOI:<a href=""https://doi.org/10.1007/s00467-012-2146-4"">10.1007/s00467-012-2146-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/3031816"">3031816</a> (WT1)
 著者        Weissman BE, Saxon PJ, Pasquale SR, Jones GR, Geiser AG, Stanbridge EJ
 タイトル      Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression.
 雑誌        Science 236:175-80 (1987)
 DOI:<a href=""https://doi.org/10.1126/science.3031816"">10.1126/science.3031816</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17164647"">17164647</a> (POU6F2)
 著者        Di Renzo F, Doneda L, Menegola E, Sardella M, De Vecchi G, Collini P, Spreafico F, Fossati-Bellani F, Giavini E, Radice P, Perotti D
 タイトル      The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors.
 雑誌        J Pediatr Hematol Oncol 28:791-7 (2006)
 DOI:<a href=""https://doi.org/10.1097/MPH.0b013e31802d3e65"">10.1097/MPH.0b013e31802d3e65</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26551668"">26551668</a> (REST)
 著者        Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N
 タイトル      Mutations in the transcriptional repressor REST predispose to Wilms tumor.
 雑誌        Nat Genet 47:1471-4 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3440"">10.1038/ng.3440</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15689453"">15689453</a> (BRCA2)
 著者        Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
 タイトル      Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
 雑誌        J Med Genet 42:147-51 (2005)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.022673"">10.1136/jmg.2004.022673</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12085187"">12085187</a> (GPC3)
 著者        White GR, Kelsey AM, Varley JM, Birch JM
 タイトル      Somatic glypican 3 (GPC3) mutations in Wilms' tumour.
 雑誌        Br J Cancer 86:1920-2 (2002)
 DOI:<a href=""https://doi.org/10.1038/sj.bjc.6600417"">10.1038/sj.bjc.6600417</a>"
H02302,肝芽腫,,,"Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic aberrations (70-90%) in hepatoblastoma occur in genes involved in the Wnt signaling pathway. The Wnt signaling pathway is activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway.",がん,,"CTNNB1 (mutation) [HSA:1499] [KO:K02105]
 APC (mutation) [HSA:324] [KO:K02085]
 AXIN2 (mutation) [HSA:8313] [KO:K04385]",,,,"イホスファミド [DR:D00343]
 エトポシド [DR:D00125]",,"ICD-11: 2C12.01
 ICD-10: C22.2
 MeSH: D018197","PMID:22807084
 著者        Tomlinson GE, Kappler R
 タイトル      Genetics and epigenetics of hepatoblastoma.
 雑誌        Pediatr Blood Cancer 59:785-92 (2012)
 DOI:10.1002/pbc.24213
 PMID:29251405
 著者        Yang A, Sisson R, Gupta A, Tiao G, Geller JI
 タイトル      Germline APC mutations in hepatoblastoma.
 雑誌        Pediatr Blood Cancer 65:e26892 (2018)
 DOI:10.1002/pbc.26892
 PMID:27938502
 著者        Bell D, Ranganathan S, Tao J, Monga SP
 タイトル      Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/beta-Catenin Perspective.
 雑誌        Gene Expr 17:141-154 (2017)
 DOI:10.3727/105221616X693639
 PMID:24322718
 著者        Czauderna P, Lopez-Terrada D, Hiyama E, Haberle B, Malogolowkin MH, Meyers RL
 タイトル      Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy.
 雑誌        Curr Opin Pediatr 26:19-28 (2014)
 DOI:10.1097/MOP.0000000000000046
 PMID:22648938
 著者        Lopez-Terrada D, Zimmermann A
 タイトル      Current issues and controversies in the classification of pediatric hepatocellular tumors.
 雑誌        Pediatr Blood Cancer 59:780-4 (2012)
 DOI:10.1002/pbc.24214","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02302"">H02302</a>",肝芽腫,"Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic aberrations (70-90%) in hepatoblastoma occur in genes involved in the Wnt signaling pathway. The Wnt signaling pathway is activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway.",,"CTNNB1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1499"">1499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02105"">K02105</a>]
 APC (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:324"">324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02085"">K02085</a>]
 AXIN2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8313"">8313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04385"">K04385</a>]",,,,"イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 エトポシド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00125"">D00125</a>]",,"ICD-11: 2C12.01
 ICD-10: C22.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018197"">D018197</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22807084"">22807084</a>
 著者        Tomlinson GE, Kappler R
 タイトル      Genetics and epigenetics of hepatoblastoma.
 雑誌        Pediatr Blood Cancer 59:785-92 (2012)
 DOI:<a href=""https://doi.org/10.1002/pbc.24213"">10.1002/pbc.24213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29251405"">29251405</a>
 著者        Yang A, Sisson R, Gupta A, Tiao G, Geller JI
 タイトル      Germline APC mutations in hepatoblastoma.
 雑誌        Pediatr Blood Cancer 65:e26892 (2018)
 DOI:<a href=""https://doi.org/10.1002/pbc.26892"">10.1002/pbc.26892</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27938502"">27938502</a>
 著者        Bell D, Ranganathan S, Tao J, Monga SP
 タイトル      Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/beta-Catenin Perspective.
 雑誌        Gene Expr 17:141-154 (2017)
 DOI:<a href=""https://doi.org/10.3727/105221616X693639"">10.3727/105221616X693639</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24322718"">24322718</a>
 著者        Czauderna P, Lopez-Terrada D, Hiyama E, Haberle B, Malogolowkin MH, Meyers RL
 タイトル      Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy.
 雑誌        Curr Opin Pediatr 26:19-28 (2014)
 DOI:<a href=""https://doi.org/10.1097/MOP.0000000000000046"">10.1097/MOP.0000000000000046</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22648938"">22648938</a>
 著者        Lopez-Terrada D, Zimmermann A
 タイトル      Current issues and controversies in the classification of pediatric hepatocellular tumors.
 雑誌        Pediatr Blood Cancer 59:780-4 (2012)
 DOI:<a href=""https://doi.org/10.1002/pbc.24214"">10.1002/pbc.24214</a>"
H02303,脱毛・精神遅滞症候群,,,"Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.",先天奇形,,"(APMR1) AHSG [HSA:197] [KO:K23409]
 (APMR4) LSS [HSA:4047] [KO:K01852]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C565965
 OMIM: 203650 618840","PMID:28054173 (AHSG)
 著者        Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP
 タイトル      Association of AHSG with alopecia and mental retardation (APMR) syndrome.
 雑誌        Hum Genet 136:287-296 (2017)
 DOI:10.1007/s00439-016-1756-5
 PMID:30723320 (LSS)
 著者        Besnard T, Sloboda N, Goldenberg A, Kury S, Cogne B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignieres A, Faivre L, Gardie B, Gueant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamaziere A, Bezieau S, Feillet F, Isidor B
 タイトル      Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
 雑誌        Genet Med 21:2025-2035 (2019)
 DOI:10.1038/s41436-019-0445-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02303"">H02303</a>",脱毛・精神遅滞症候群,"Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.",,"(APMR1) AHSG [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197"">197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23409"">K23409</a>]
 (APMR4) LSS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4047"">4047</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01852"">K01852</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565965"">C565965</a>
 OMIM: <a href=""https://www.omim.org/entry/203650"">203650</a> <a href=""https://www.omim.org/entry/618840"">618840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28054173"">28054173</a> (AHSG)
 著者        Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP
 タイトル      Association of AHSG with alopecia and mental retardation (APMR) syndrome.
 雑誌        Hum Genet 136:287-296 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1756-5"">10.1007/s00439-016-1756-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30723320"">30723320</a> (LSS)
 著者        Besnard T, Sloboda N, Goldenberg A, Kury S, Cogne B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignieres A, Faivre L, Gardie B, Gueant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamaziere A, Bezieau S, Feillet F, Isidor B
 タイトル      Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
 雑誌        Genet Med 21:2025-2035 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0445-x"">10.1038/s41436-019-0445-x</a>"
H02304,混合性 D-2-および L-2-ヒドロキシグルタル酸尿症,,,"Combined D-2- and L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by elevated levels of both D-2-hydroxyglutarate (HG) and L-2-HG in body fluids, mainly manifests in a severe neonatal epileptic encephalopathy, absence of developmental progress, and often early death. Recessive mutations in SLC25A1, the mitochondrial citrate carrier, have been reported in individuals with D,L-2-HGA.",先天性代謝異常症,,SLC25A1 [HSA:6576] [KO:K15100],,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: C535306
 OMIM: 615182","PMID:23561848
 著者        Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS
 タイトル      Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
 雑誌        Am J Hum Genet 92:627-31 (2013)
 DOI:10.1016/j.ajhg.2013.03.009
 PMID:10963100
 著者        Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA
 タイトル      Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
 雑誌        Neuropediatrics 31:137-40 (2000)
 DOI:10.1055/s-2000-7497","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02304"">H02304</a>",混合性 D-2-および L-2-ヒドロキシグルタル酸尿症,"Combined D-2- and L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by elevated levels of both D-2-hydroxyglutarate (HG) and L-2-HG in body fluids, mainly manifests in a severe neonatal epileptic encephalopathy, absence of developmental progress, and often early death. Recessive mutations in SLC25A1, the mitochondrial citrate carrier, have been reported in individuals with D,L-2-HGA.",,"SLC25A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6576"">6576</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15100"">K15100</a>]",,,,,,"ICD-11: 5C50.E1
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535306"">C535306</a>
 OMIM: <a href=""https://www.omim.org/entry/615182"">615182</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23561848"">23561848</a>
 著者        Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS
 タイトル      Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
 雑誌        Am J Hum Genet 92:627-31 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.03.009"">10.1016/j.ajhg.2013.03.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10963100"">10963100</a>
 著者        Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA
 タイトル      Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
 雑誌        Neuropediatrics 31:137-40 (2000)
 DOI:<a href=""https://doi.org/10.1055/s-2000-7497"">10.1055/s-2000-7497</a>"
H02305,"RERE 関連神経発達症候群;
 脳、眼および心臓の奇形を伴う（または伴わない）神経発達疾患
 上位グループ    脳の構造異常を伴う神経発達障害 [DS:H02470]
 症候群性神経発達障害 [DS:H02459]",,,"RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with intellectual disability, developmental delay, and autism spectrum disorder who carry mutations in RERE have been described. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling.",精神及び行動の障害,,RERE [HSA:473] [KO:K05628],,,,,,"ICD-11: 6A0Y
 ICD-10: F88
 OMIM: 616975","PMID:23451234
 著者        Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernandez-Garcia A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA
 タイトル      An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
 雑誌        PLoS One 8:e57460 (2013)
 DOI:10.1371/journal.pone.0057460
 PMID:27087320
 著者        Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH
 タイトル      De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
 雑誌        Am J Hum Genet 98:963-970 (2016)
 DOI:10.1016/j.ajhg.2016.03.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02305"">H02305</a>","RERE 関連神経発達症候群;
 脳、眼および心臓の奇形を伴う（または伴わない）神経発達疾患
 上位グループ    脳の構造異常を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02470"">H02470</a>]
 症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]","RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with intellectual disability, developmental delay, and autism spectrum disorder who carry mutations in RERE have been described. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling.",,"RERE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:473"">473</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05628"">K05628</a>]",,,,,,"ICD-11: 6A0Y
 ICD-10: F88
 OMIM: <a href=""https://www.omim.org/entry/616975"">616975</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23451234"">23451234</a>
 著者        Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernandez-Garcia A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA
 タイトル      An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
 雑誌        PLoS One 8:e57460 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0057460"">10.1371/journal.pone.0057460</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27087320"">27087320</a>
 著者        Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH
 タイトル      De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
 雑誌        Am J Hum Genet 98:963-970 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.002"">10.1016/j.ajhg.2016.03.002</a>"
H02306,関節脱臼を伴う軟骨異形成症 GRAPP 型,,,"Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.",先天奇形,,IMPAD1 [HSA:54928] [KO:K15759],,,,,,"ICD-11: LD24.Y
 ICD-10: Q77.8
 OMIM: 614078","PMID:22887726
 著者        Nizon M, Alanay Y, Tuysuz B, Kiper PO, Genevieve D, Sillence D, Huber C, Munnich A, Cormier-Daire V
 タイトル      IMPAD1 mutations in two Catel-Manzke like patients.
 雑誌        Am J Med Genet A 158A:2183-7 (2012)
 DOI:10.1002/ajmg.a.35504
 PMID:21549340
 著者        Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A
 タイトル      Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
 雑誌        Am J Hum Genet 88:608-15 (2011)
 DOI:10.1016/j.ajhg.2011.04.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02306"">H02306</a>",関節脱臼を伴う軟骨異形成症 GRAPP 型,"Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.",,"IMPAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54928"">54928</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15759"">K15759</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q77.8
 OMIM: <a href=""https://www.omim.org/entry/614078"">614078</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22887726"">22887726</a>
 著者        Nizon M, Alanay Y, Tuysuz B, Kiper PO, Genevieve D, Sillence D, Huber C, Munnich A, Cormier-Daire V
 タイトル      IMPAD1 mutations in two Catel-Manzke like patients.
 雑誌        Am J Med Genet A 158A:2183-7 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.35504"">10.1002/ajmg.a.35504</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21549340"">21549340</a>
 著者        Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A
 タイトル      Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
 雑誌        Am J Hum Genet 88:608-15 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.04.002"">10.1016/j.ajhg.2011.04.002</a>"
H02307,"筋ジストロフィー・ジストログリカノパチー
 下位グループ    筋ジストロフィー・ジストログリカノパチー A 型 [DS:H00120]
 筋ジストロフィー・ジストログリカノパチー B 型 [DS:H01960]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:H01959]",,,"Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. The most severe clinical spectrum (type A) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C) is with limb-girdle muscular dystrophy. Type B is an intermediate phenotype between type A and C.",先天性代謝異常症,nt06013  O-Glycan biosynthesis,"POMT1 [HSA:10585] [KO:K00728]
 POMT2 [HSA:29954] [KO:K00728]
 POMGNT1 [HSA:55624] [KO:K09666]
 FKTN [HSA:2218] [KO:K19872]
 FKRP [HSA:79147] [KO:K19873]
 LARGE [HSA:9215] [KO:K09668]
 ISPD [HSA:729920] [KO:K21031]
 GTDC2 [HSA:84892] [KO:K18207]
 DAG1 [HSA:1605] [KO:K06265]
 TMEM5 [HSA:10329] [KO:K21052]
 B3GALNT2 [HSA:148789] [KO:K09654]
 POMK [HSA:84197] [KO:K17547]
 B3GNT1 [HSA:11041] [KO:K21032]
 GMPPB [HSA:29925] [KO:K00966]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: D58494
 OMIM: 236670 613155 609308","PMID:17878207
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:10.1093/brain/awm212
 PMID:15792865
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:10.1016/j.nmd.2005.01.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02307"">H02307</a>","筋ジストロフィー・ジストログリカノパチー
 下位グループ    筋ジストロフィー・ジストログリカノパチー A 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00120"">H00120</a>]
 筋ジストロフィー・ジストログリカノパチー B 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01960"">H01960</a>]
 筋ジストロフィー・ジストログリカノパチー C 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01959"">H01959</a>]","Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. The most severe clinical spectrum (type A) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C) is with limb-girdle muscular dystrophy. Type B is an intermediate phenotype between type A and C.","<a href=""https://www.kegg.jp/network/nt06013"">nt06013</a>  O-Glycan biosynthesis","POMT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10585"">10585</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 POMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29954"">29954</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00728"">K00728</a>]
 POMGNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55624"">55624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09666"">K09666</a>]
 FKTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2218"">2218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19872"">K19872</a>]
 FKRP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79147"">79147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19873"">K19873</a>]
 LARGE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9215"">9215</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09668"">K09668</a>]
 ISPD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:729920"">729920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21031"">K21031</a>]
 GTDC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84892"">84892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18207"">K18207</a>]
 DAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1605"">1605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06265"">K06265</a>]
 TMEM5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10329"">10329</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21052"">K21052</a>]
 B3GALNT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:148789"">148789</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09654"">K09654</a>]
 POMK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84197"">84197</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17547"">K17547</a>]
 B3GNT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11041"">11041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21032"">K21032</a>]
 GMPPB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29925"">29925</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00966"">K00966</a>]",,,,,,"ICD-11: 8C70.6
 ICD-10: G71.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D58494"">D58494</a>
 OMIM: <a href=""https://www.omim.org/entry/236670"">236670</a> <a href=""https://www.omim.org/entry/613155"">613155</a> <a href=""https://www.omim.org/entry/609308"">609308</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17878207"">17878207</a>
 著者        Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F
 タイトル      Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
 雑誌        Brain 130:2725-35 (2007)
 DOI:<a href=""https://doi.org/10.1093/brain/awm212"">10.1093/brain/awm212</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15792865"">15792865</a>
 著者        Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
 タイトル      An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
 雑誌        Neuromuscul Disord 15:271-5 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.nmd.2005.01.013"">10.1016/j.nmd.2005.01.013</a>"
H02308,ICF 症候群,,,"Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory and gastrointestinal infections as a consequence of hypogammaglobulinemia in the presence of B cells. Nearly all patients also present with distinct facial anomalies. Centromeric instability is the cytogenetic hallmark of ICF syndrome. Mutations in the DNA methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 gene. Recently, it has been reported that mutations in CDCA7 and HELLS cause ICF syndrome.",免疫系疾患,,"(ICF1) DNMT3B [HSA:1789] [KO:K17399]
 (ICF2) ZBTB24 [HSA:9841] [KO:K10503]
 (ICF3) CDCA7 [HSA:83879] [KO:K23408]
 (ICF4) HELLS [HSA:3070] [KO:K19001]",,,,,,"ICD-11: 4A01.00
 ICD-10: D84.8
 MeSH: C537362
 OMIM: 242860 614069 616910 616911","PMID:17893117
 著者        Hagleitner MM, Lankester A, Maraschio P, Hulten M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
 タイトル      Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
 雑誌        J Med Genet 45:93-9 (2008)
 DOI:10.1136/jmg.2007.053397
 PMID:15580563 (DNMT3B)
 著者        Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hulten M, Jonveaux P, Maraschio P, Megarbane A, Moncla A, Viegas-Pequignot E
 タイトル      DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
 雑誌        Hum Mutat 25:56-63 (2005)
 DOI:10.1002/humu.20113
 PMID:21906047 (ZBTB24)
 著者        Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Megarbane A
 タイトル      A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
 雑誌        Clin Genet 82:489-93 (2012)
 DOI:10.1111/j.1399-0004.2011.01783.x
 PMID:26216346 (CDCA7 HELLS)
 著者        Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H
 タイトル      Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
 雑誌        Nat Commun 6:7870 (2015)
 DOI:10.1038/ncomms8870","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02308"">H02308</a>",ICF 症候群,"Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory and gastrointestinal infections as a consequence of hypogammaglobulinemia in the presence of B cells. Nearly all patients also present with distinct facial anomalies. Centromeric instability is the cytogenetic hallmark of ICF syndrome. Mutations in the DNA methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 gene. Recently, it has been reported that mutations in CDCA7 and HELLS cause ICF syndrome.",,"(ICF1) DNMT3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1789"">1789</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17399"">K17399</a>]
 (ICF2) ZBTB24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9841"">9841</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10503"">K10503</a>]
 (ICF3) CDCA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83879"">83879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23408"">K23408</a>]
 (ICF4) HELLS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3070"">3070</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19001"">K19001</a>]",,,,,,"ICD-11: 4A01.00
 ICD-10: D84.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537362"">C537362</a>
 OMIM: <a href=""https://www.omim.org/entry/242860"">242860</a> <a href=""https://www.omim.org/entry/614069"">614069</a> <a href=""https://www.omim.org/entry/616910"">616910</a> <a href=""https://www.omim.org/entry/616911"">616911</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17893117"">17893117</a>
 著者        Hagleitner MM, Lankester A, Maraschio P, Hulten M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
 タイトル      Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
 雑誌        J Med Genet 45:93-9 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.053397"">10.1136/jmg.2007.053397</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15580563"">15580563</a> (DNMT3B)
 著者        Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hulten M, Jonveaux P, Maraschio P, Megarbane A, Moncla A, Viegas-Pequignot E
 タイトル      DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
 雑誌        Hum Mutat 25:56-63 (2005)
 DOI:<a href=""https://doi.org/10.1002/humu.20113"">10.1002/humu.20113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21906047"">21906047</a> (ZBTB24)
 著者        Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Megarbane A
 タイトル      A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
 雑誌        Clin Genet 82:489-93 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01783.x"">10.1111/j.1399-0004.2011.01783.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26216346"">26216346</a> (CDCA7 <a href=""https://pubmed.ncbi.nlm.nih.gov/HELLS)"">HELLS)</a>
 著者        Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H
 タイトル      Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
 雑誌        Nat Commun 6:7870 (2015)
 DOI:<a href=""https://doi.org/10.1038/ncomms8870"">10.1038/ncomms8870</a>"
H02309,"アデノシンデアミナーゼ欠損症
 上位グループ    T-B- 重症複合免疫不全症 [DS:H00092]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid breakdown associated with cell turnover in marrow, thymus, and lymph nodes. Most patients have SCID, which is usually diagnosed in infancy and is often fatal, but some patients are diagnosed later in childhood or as adults. More than 50 ADA mutations are known. Most patients are heteroallelic, and most alleles are rare.",免疫系疾患,,ADA [HSA:100] [KO:K01488],,,,エラペグアデマーゼ [DR:D11017],,"ICD-11: 4A01.10
 ICD-10: D81.3
 MeSH: C531816
 OMIM: 102700","PMID:9758612
 著者        Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
 タイトル      Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
 雑誌        Am J Hum Genet 63:1049-59 (1998)
 DOI:10.1086/302054
 PMID:12089448
 著者        Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C
 タイトル      Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.
 雑誌        Science 296:2410-3 (2002)
 DOI:10.1126/science.1070104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02309"">H02309</a>","アデノシンデアミナーゼ欠損症
 上位グループ    T-B- 重症複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00092"">H00092</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid breakdown associated with cell turnover in marrow, thymus, and lymph nodes. Most patients have SCID, which is usually diagnosed in infancy and is often fatal, but some patients are diagnosed later in childhood or as adults. More than 50 ADA mutations are known. Most patients are heteroallelic, and most alleles are rare.",,"ADA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100"">100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01488"">K01488</a>]",,,,"エラペグアデマーゼ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11017"">D11017</a>]",,"ICD-11: 4A01.10
 ICD-10: D81.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C531816"">C531816</a>
 OMIM: <a href=""https://www.omim.org/entry/102700"">102700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9758612"">9758612</a>
 著者        Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
 タイトル      Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
 雑誌        Am J Hum Genet 63:1049-59 (1998)
 DOI:<a href=""https://doi.org/10.1086/302054"">10.1086/302054</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12089448"">12089448</a>
 著者        Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C
 タイトル      Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.
 雑誌        Science 296:2410-3 (2002)
 DOI:<a href=""https://doi.org/10.1126/science.1070104"">10.1126/science.1070104</a>"
H02310,"尿細管性アシドーシス
 下位グループ    尿細管性アシドーシス I 型 (遠位型) [DS:H00428]
 尿細管性アシドーシス II 型 (近位型) [DS:H00429]
 尿細管性アシドーシス III 型 [DS:H00241]
 尿細管性アシドーシス IV 型 [DS:H00243]",,,"Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different disorders. Distal RTA (type 1) arises when the collecting duct fails to remove excess acid into the urine. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions. RTA type 4 is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling.",泌尿器系疾患,,"(type 1) SLC4A1 [HSA:6521] [KO:K06573]
 (type 1) ATP6V1B1 [HSA:525] [KO:K02147]
 (type 1) ATP6V0A4 [HSA:50617] [KO:K02154]
 (type 2) SLC4A4 [HSA:8671] [KO:K13575]
 (type 3) CA2 [HSA:760] [KO:K18245]
 (type 4) SCNN1A [HSA:6337] [KO:K04824]
 (type 4) SCNN1B [HSA:6338] [KO:K04825]
 (type 4) SCNN1G [HSA:6340] [KO:K04827]
 (type 4) NR3C2 [HSA:4306] [KO:K08555]
 (type 4) WNK1 [HSA:65125] [KO:K08867]
 (type 4) WNK4 [HSA:65266] [KO:K08867]
 (type 4) KLHL3 [HSA:26249] [KO:K10443]
 (type 4) CUL3 [HSA:8452] [KO:K03869]",,,,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: D000141
 OMIM: 179800 267300 602722 604278 259730 264350 177735 145260","PMID:19721811
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:10.2174/138920209787581262","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02310"">H02310</a>","尿細管性アシドーシス
 下位グループ    尿細管性アシドーシス I 型 (遠位型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00428"">H00428</a>]
 尿細管性アシドーシス II 型 (近位型) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00429"">H00429</a>]
 尿細管性アシドーシス III 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00241"">H00241</a>]
 尿細管性アシドーシス IV 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00243"">H00243</a>]","Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different disorders. Distal RTA (type 1) arises when the collecting duct fails to remove excess acid into the urine. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions. RTA type 4 is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling.",,"(type 1) SLC4A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6521"">6521</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06573"">K06573</a>]
 (type 1) ATP6V1B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:525"">525</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02147"">K02147</a>]
 (type 1) ATP6V0A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50617"">50617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02154"">K02154</a>]
 (type 2) SLC4A4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8671"">8671</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13575"">K13575</a>]
 (type 3) CA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:760"">760</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18245"">K18245</a>]
 (type 4) SCNN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6337"">6337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04824"">K04824</a>]
 (type 4) SCNN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6338"">6338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04825"">K04825</a>]
 (type 4) SCNN1G [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6340"">6340</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04827"">K04827</a>]
 (type 4) NR3C2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4306"">4306</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08555"">K08555</a>]
 (type 4) WNK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65125"">65125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08867"">K08867</a>]
 (type 4) WNK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65266"">65266</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08867"">K08867</a>]
 (type 4) KLHL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26249"">26249</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10443"">K10443</a>]
 (type 4) CUL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8452"">8452</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03869"">K03869</a>]",,,,,,"ICD-11: GB90.44
 ICD-10: N25.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000141"">D000141</a>
 OMIM: <a href=""https://www.omim.org/entry/179800"">179800</a> <a href=""https://www.omim.org/entry/267300"">267300</a> <a href=""https://www.omim.org/entry/602722"">602722</a> <a href=""https://www.omim.org/entry/604278"">604278</a> <a href=""https://www.omim.org/entry/259730"">259730</a> <a href=""https://www.omim.org/entry/264350"">264350</a> <a href=""https://www.omim.org/entry/177735"">177735</a> <a href=""https://www.omim.org/entry/145260"">145260</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19721811"">19721811</a>
 著者        Pereira PC, Miranda DM, Oliveira EA, Silva AC
 タイトル      Molecular pathophysiology of renal tubular acidosis.
 雑誌        Curr Genomics 10:51-9 (2009)
 DOI:<a href=""https://doi.org/10.2174/138920209787581262"">10.2174/138920209787581262</a>"
H02311,"モリブデン補因子欠損症
 上位グループ    キサンチン尿症 [DS:H00192]",,,"Molybdenum cofactor deficiency (MOCOD) is a rare  autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities, that include sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCOD results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency [DS:H01237].",先天性代謝異常症,nt06025  Molybdenum cofactor biosynthesis,"(MOCODA) MOCS1 [HSA:4337] [KO:K20967]
 (MOCODB) MOCS2 [HSA:4338] [KO:K03635]
 (MOCODC) GEPH [HSA:10243] [KO:K15376]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: C535811
 OMIM: 252150 252160 615501","PMID:10746556
 著者        Reiss J
 タイトル      Genetics of molybdenum cofactor deficiency.
 雑誌        Hum Genet 106:157-63 (2000)
 DOI:10.1007/s004399900223
 PMID:12754701
 著者        Reiss J, Johnson JL
 タイトル      Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
 雑誌        Hum Mutat 21:569-76 (2003)
 DOI:10.1002/humu.10223","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02311"">H02311</a>","モリブデン補因子欠損症
 上位グループ    キサンチン尿症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00192"">H00192</a>]","Molybdenum cofactor deficiency (MOCOD) is a rare  autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities, that include sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCOD results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01237]."">H01237].</a>","<a href=""https://www.kegg.jp/network/nt06025"">nt06025</a>  Molybdenum cofactor biosynthesis","(MOCODA) MOCS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4337"">4337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20967"">K20967</a>]
 (MOCODB) MOCS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4338"">4338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03635"">K03635</a>]
 (MOCODC) GEPH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10243"">10243</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15376"">K15376</a>]",,,,,,"ICD-11: 5C50.B
 ICD-10: E72.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535811"">C535811</a>
 OMIM: <a href=""https://www.omim.org/entry/252150"">252150</a> <a href=""https://www.omim.org/entry/252160"">252160</a> <a href=""https://www.omim.org/entry/615501"">615501</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10746556"">10746556</a>
 著者        Reiss J
 タイトル      Genetics of molybdenum cofactor deficiency.
 雑誌        Hum Genet 106:157-63 (2000)
 DOI:<a href=""https://doi.org/10.1007/s004399900223"">10.1007/s004399900223</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12754701"">12754701</a>
 著者        Reiss J, Johnson JL
 タイトル      Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
 雑誌        Hum Mutat 21:569-76 (2003)
 DOI:<a href=""https://doi.org/10.1002/humu.10223"">10.1002/humu.10223</a>"
H02312,"グルタチオン合成酵素欠損症
 上位グループ    グルタチオン代謝障害による貧血 [DS:H00668]",,,"Glutathione synthetase deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. A milder form, which is only associated with haemolytic anaemia, has also been reported.",先天性代謝異常症,nt06026  Glutathione biosynthesis,GSS [HSA:2937] [KO:K21456],,,,,,"ICD-11: 3A10.0Y
 ICD-10: D55.1
 MeSH: C536835
 OMIM: 266130","PMID:8896573
 著者        Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW
 タイトル      Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
 雑誌        Nat Genet 14:361-5 (1996)
 DOI:10.1038/ng1196-361
 PMID:15717202
 著者        Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S
 タイトル      Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
 雑誌        Hum Genet 116:384-9 (2005)
 DOI:10.1007/s00439-005-1255-6","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02312"">H02312</a>","グルタチオン合成酵素欠損症
 上位グループ    グルタチオン代謝障害による貧血 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00668"">H00668</a>]","Glutathione synthetase deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. A milder form, which is only associated with haemolytic anaemia, has also been reported.","<a href=""https://www.kegg.jp/network/nt06026"">nt06026</a>  Glutathione biosynthesis","GSS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2937"">2937</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21456"">K21456</a>]",,,,,,"ICD-11: 3A10.0Y
 ICD-10: D55.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536835"">C536835</a>
 OMIM: <a href=""https://www.omim.org/entry/266130"">266130</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8896573"">8896573</a>
 著者        Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW
 タイトル      Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
 雑誌        Nat Genet 14:361-5 (1996)
 DOI:<a href=""https://doi.org/10.1038/ng1196-361"">10.1038/ng1196-361</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15717202"">15717202</a>
 著者        Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S
 タイトル      Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
 雑誌        Hum Genet 116:384-9 (2005)
 DOI:<a href=""https://doi.org/10.1007/s00439-005-1255-6"">10.1007/s00439-005-1255-6</a>"
H02313,5-オキソプロリナーゼ欠損症,,,"5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported in two siblings who suffered from 5-oxoprolinuria with a benign clinical course.",先天性代謝異常症,nt06026  Glutathione biosynthesis,OPLAH [HSA:26873] [KO:K01469],,,,,,"ICD-11: 5C50.5
 ICD-10: E72.8
 MeSH: C535322
 OMIM: 260005","PMID:21651516
 著者        Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS
 タイトル      5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
 雑誌        Clin Genet 82:193-6 (2012)
 DOI:10.1111/j.1399-0004.2011.01728.x
 PMID:23430506
 著者        Calpena E, Casado M, Martinez-Rubio D, Nascimento A, Colomer J, Gargallo E, Garcia-Cazorla A, Palau F, Artuch R, Espinos C
 タイトル      5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
 雑誌        JIMD Rep 7:123-8 (2013)
 DOI:10.1007/8904_2012_166","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02313"">H02313</a>",5-オキソプロリナーゼ欠損症,"5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported in two siblings who suffered from 5-oxoprolinuria with a benign clinical course.","<a href=""https://www.kegg.jp/network/nt06026"">nt06026</a>  Glutathione biosynthesis","OPLAH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26873"">26873</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01469"">K01469</a>]",,,,,,"ICD-11: 5C50.5
 ICD-10: E72.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535322"">C535322</a>
 OMIM: <a href=""https://www.omim.org/entry/260005"">260005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21651516"">21651516</a>
 著者        Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS
 タイトル      5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
 雑誌        Clin Genet 82:193-6 (2012)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2011.01728.x"">10.1111/j.1399-0004.2011.01728.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23430506"">23430506</a>
 著者        Calpena E, Casado M, Martinez-Rubio D, Nascimento A, Colomer J, Gargallo E, Garcia-Cazorla A, Palau F, Artuch R, Espinos C
 タイトル      5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
 雑誌        JIMD Rep 7:123-8 (2013)
 DOI:<a href=""https://doi.org/10.1007/8904_2012_166"">10.1007/8904_2012_166</a>"
H02314,"先天性副腎機能不全（部分的又は完全な 46,XY 性転換を伴う)
 上位グループ    先天性副腎過形成症 [DS:H00216]
 46,XY性分化疾患 (テストステロン分泌異常) [DS:H00608]
 男子性腺機能不全症 [DS:H02027]",,,"The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.",内分泌代謝疾患,nt06019  Steroid hormone biosynthesis,CYP11A1 [HSA:1583] [KO:K00498],,,,,,"ICD-11: 5A74.Y
 ICD-10: Q56.1
 MeSH: D000309
 OMIM: 613743","PMID:16705068
 著者        al Kandari H, Katsumata N, Alexander S, Rasoul MA
 タイトル      Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
 雑誌        J Clin Endocrinol Metab 91:2821-6 (2006)
 DOI:10.1210/jc.2005-2230
 PMID:19116240
 著者        Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A
 タイトル      A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
 雑誌        J Clin Endocrinol Metab 94:936-9 (2009)
 DOI:10.1210/jc.2008-1118
 PMID:22968487
 著者        Parajes S, Chan AO, But WM, Rose IT, Taylor AE, Dhir V, Arlt W, Krone N
 タイトル      Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
 雑誌        Eur J Endocrinol 167:881-5 (2012)
 DOI:10.1530/EJE-12-0450","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02314"">H02314</a>","先天性副腎機能不全（部分的又は完全な 46,XY 性転換を伴う)
 上位グループ    先天性副腎過形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00216"">H00216</a>]
 46,XY性分化疾患 (テストステロン分泌異常) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00608"">H00608</a>]
 男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","CYP11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1583"">1583</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00498"">K00498</a>]",,,,,,"ICD-11: 5A74.Y
 ICD-10: Q56.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000309"">D000309</a>
 OMIM: <a href=""https://www.omim.org/entry/613743"">613743</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16705068"">16705068</a>
 著者        al Kandari H, Katsumata N, Alexander S, Rasoul MA
 タイトル      Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
 雑誌        J Clin Endocrinol Metab 91:2821-6 (2006)
 DOI:<a href=""https://doi.org/10.1210/jc.2005-2230"">10.1210/jc.2005-2230</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19116240"">19116240</a>
 著者        Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A
 タイトル      A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
 雑誌        J Clin Endocrinol Metab 94:936-9 (2009)
 DOI:<a href=""https://doi.org/10.1210/jc.2008-1118"">10.1210/jc.2008-1118</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22968487"">22968487</a>
 著者        Parajes S, Chan AO, But WM, Rose IT, Taylor AE, Dhir V, Arlt W, Krone N
 タイトル      Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
 雑誌        Eur J Endocrinol 167:881-5 (2012)
 DOI:<a href=""https://doi.org/10.1530/EJE-12-0450"">10.1530/EJE-12-0450</a>"
H02315,"チトクロム P450 オキシドレダクターゼ欠損によるステロイド産生異常
 上位グループ    先天性副腎過形成症 [DS:H00216]
 46,XY性分化疾患 (テストステロン分泌異常) [DS:H00608]
 男子性腺機能不全症 [DS:H02027]",,,Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia.,内分泌代謝疾患,,POR [HSA:5447] [KO:K00327],,,,,,"ICD-11: 5A71.01
 ICD-10: E25.0
 MeSH: D054882
 OMIM: 613571","PMID:14758361
 著者        Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL
 タイトル      Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
 雑誌        Nat Genet 36:228-30 (2004)
 DOI:10.1038/ng1300
 PMID:18559916
 著者        Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL
 タイトル      Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
 雑誌        J Clin Endocrinol Metab 93:3584-8 (2008)
 DOI:10.1210/jc.2008-0051
 PMID:20301592
 著者        Idkowiak J, Cragun D, Hopkin RJ, Arlt W
 タイトル      Cytochrome P450 Oxidoreductase Deficiency
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02315"">H02315</a>","チトクロム P450 オキシドレダクターゼ欠損によるステロイド産生異常
 上位グループ    先天性副腎過形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00216"">H00216</a>]
 46,XY性分化疾患 (テストステロン分泌異常) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00608"">H00608</a>]
 男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]",Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia.,,"POR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5447"">5447</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00327"">K00327</a>]",,,,,,"ICD-11: 5A71.01
 ICD-10: E25.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054882"">D054882</a>
 OMIM: <a href=""https://www.omim.org/entry/613571"">613571</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14758361"">14758361</a>
 著者        Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL
 タイトル      Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
 雑誌        Nat Genet 36:228-30 (2004)
 DOI:<a href=""https://doi.org/10.1038/ng1300"">10.1038/ng1300</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18559916"">18559916</a>
 著者        Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL
 タイトル      Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
 雑誌        J Clin Endocrinol Metab 93:3584-8 (2008)
 DOI:<a href=""https://doi.org/10.1210/jc.2008-0051"">10.1210/jc.2008-0051</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20301592"">20301592</a>
 著者        Idkowiak J, Cragun D, Hopkin RJ, Arlt W
 タイトル      Cytochrome P450 Oxidoreductase Deficiency
 雑誌        GeneReviews (1993)"
H02316,NR5A1 に関連する副腎機能不全,,,"NR5A1, also termed steroidogenic factor 1 (SF-1), is a nuclear receptor and a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. There are some known mutations of the NR5A1 gene in humans. A few of them were originally identified in patients with adrenal insufficiency. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency.",内分泌系疾患,nt06019  Steroid hormone biosynthesis,NR5A1 [HSA:2516] [KO:K08560],,,,,,"ICD-11: 5A74.Y
 ICD-10: E27.8
 MeSH: C566130
 OMIM: 612964","PMID:11932325
 著者        Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL
 タイトル      Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
 雑誌        J Clin Endocrinol Metab 87:1829-33 (2002)
 DOI:10.1210/jcem.87.4.8376
 PMID:19246354
 著者        Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A
 タイトル      Mutations in NR5A1 associated with ovarian insufficiency.
 雑誌        N Engl J Med 360:1200-10 (2009)
 DOI:10.1056/NEJMoa0806228
 PMID:28033660
 著者        Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB
 タイトル      Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
 雑誌        Birth Defects Res C Embryo Today 108:309-320 (2016)
 DOI:10.1002/bdrc.21145","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02316"">H02316</a>",NR5A1 に関連する副腎機能不全,"NR5A1, also termed steroidogenic factor 1 (SF-1), is a nuclear receptor and a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. There are some known mutations of the NR5A1 gene in humans. A few of them were originally identified in patients with adrenal insufficiency. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency.","<a href=""https://www.kegg.jp/network/nt06019"">nt06019</a>  Steroid hormone biosynthesis","NR5A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2516"">2516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08560"">K08560</a>]",,,,,,"ICD-11: 5A74.Y
 ICD-10: E27.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566130"">C566130</a>
 OMIM: <a href=""https://www.omim.org/entry/612964"">612964</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11932325"">11932325</a>
 著者        Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL
 タイトル      Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
 雑誌        J Clin Endocrinol Metab 87:1829-33 (2002)
 DOI:<a href=""https://doi.org/10.1210/jcem.87.4.8376"">10.1210/jcem.87.4.8376</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19246354"">19246354</a>
 著者        Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A
 タイトル      Mutations in NR5A1 associated with ovarian insufficiency.
 雑誌        N Engl J Med 360:1200-10 (2009)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa0806228"">10.1056/NEJMoa0806228</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28033660"">28033660</a>
 著者        Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB
 タイトル      Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
 雑誌        Birth Defects Res C Embryo Today 108:309-320 (2016)
 DOI:<a href=""https://doi.org/10.1002/bdrc.21145"">10.1002/bdrc.21145</a>"
H02317,"SERKAL 症候群
 上位グループ    46,XX 精巣性分化疾患 [DS:H00598]",,,"SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4.",生殖器系疾患,,WNT4 [HSA:54361] [KO:K00408],,,,,,"ICD-11: LD2A.Y
 ICD-10: Q87.8
 MeSH: C567517
 OMIM: 611812","PMID:15932923
 著者        Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S
 タイトル      The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.
 雑誌        Endocrinology 146:4016-23 (2005)
 DOI:10.1210/en.2005-0463
 PMID:18179883
 著者        Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E
 タイトル      SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
 雑誌        Am J Hum Genet 82:39-47 (2008)
 DOI:10.1016/j.ajhg.2007.08.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02317"">H02317</a>","SERKAL 症候群
 上位グループ    46,XX 精巣性分化疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00598"">H00598</a>]","SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4.",,"WNT4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54361"">54361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00408"">K00408</a>]",,,,,,"ICD-11: LD2A.Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567517"">C567517</a>
 OMIM: <a href=""https://www.omim.org/entry/611812"">611812</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15932923"">15932923</a>
 著者        Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S
 タイトル      The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.
 雑誌        Endocrinology 146:4016-23 (2005)
 DOI:<a href=""https://doi.org/10.1210/en.2005-0463"">10.1210/en.2005-0463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18179883"">18179883</a>
 著者        Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E
 タイトル      SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
 雑誌        Am J Hum Genet 82:39-47 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.08.005"">10.1016/j.ajhg.2007.08.005</a>"
H02318,"皮膚有棘細胞癌と性転換を伴う掌蹠角化症
 上位グループ    46,XX 精巣性分化疾患 [DS:H00598]",,,"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation.",生殖器系疾患,,RSPO1 [HSA:284654] [KO:K19471],,,,,,"ICD-11: ED55 LD2A.Y
 ICD-10: Q56.0
 MeSH: C567165
 OMIM: 610644","PMID:17041600
 著者        Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G
 タイトル      R-spondin1 is essential in sex determination, skin differentiation and malignancy.
 雑誌        Nat Genet 38:1304-9 (2006)
 DOI:10.1038/ng1907
 PMID:29575617
 著者        Tallapaka K, Venugopal V, Dalal A, Aggarwal S
 タイトル      Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
 雑誌        Am J Med Genet A 176:1006-1010 (2018)
 DOI:10.1002/ajmg.a.38646","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02318"">H02318</a>","皮膚有棘細胞癌と性転換を伴う掌蹠角化症
 上位グループ    46,XX 精巣性分化疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00598"">H00598</a>]","Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation.",,"RSPO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284654"">284654</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19471"">K19471</a>]",,,,,,"ICD-11: ED55 LD2A.Y
 ICD-10: Q56.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567165"">C567165</a>
 OMIM: <a href=""https://www.omim.org/entry/610644"">610644</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17041600"">17041600</a>
 著者        Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G
 タイトル      R-spondin1 is essential in sex determination, skin differentiation and malignancy.
 雑誌        Nat Genet 38:1304-9 (2006)
 DOI:<a href=""https://doi.org/10.1038/ng1907"">10.1038/ng1907</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29575617"">29575617</a>
 著者        Tallapaka K, Venugopal V, Dalal A, Aggarwal S
 タイトル      Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
 雑誌        Am J Med Genet A 176:1006-1010 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38646"">10.1002/ajmg.a.38646</a>"
H02319,"IMAGE 症候群
 下位グループ    IMAGE-I 症候群 [DS:H02369]",,,"IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.",内分泌代謝疾患,,CDKN1C [HSA:1028] [KO:K09993],,,,,,"ICD-11: 5A74.Y
 ICD-10: Q87.1
 MeSH: C564543
 OMIM: 614732","PMID:22634751
 著者        Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E
 タイトル      Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
 雑誌        Nat Genet 44:788-92 (2012)
 DOI:10.1038/ng.2275","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02319"">H02319</a>","IMAGE 症候群
 下位グループ    IMAGE-I 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02369"">H02369</a>]","IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.",,"CDKN1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1028"">1028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09993"">K09993</a>]",,,,,,"ICD-11: 5A74.Y
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564543"">C564543</a>
 OMIM: <a href=""https://www.omim.org/entry/614732"">614732</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22634751"">22634751</a>
 著者        Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E
 タイトル      Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
 雑誌        Nat Genet 44:788-92 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2275"">10.1038/ng.2275</a>"
H02320,CASQ1 凝集を伴う空胞性ミオパチー,,,Vacuolar myopathy with CASQ1 aggregates (VMCQA) is an autosomal dominant benign vacuolar myopathy and hyperCKemia. VMCQA is the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1. Mutations in the CASQ1 gene  have been found in patients with VMCQA.,筋骨格疾患,,CASQ1 [HSA:844] [KO:K23468],,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.8
 MeSH: D020914
 OMIM: 616231","PMID:26136523
 著者        Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M
 タイトル      A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
 雑誌        J Med Genet 52:617-26 (2015)
 DOI:10.1136/jmedgenet-2014-102882
 PMID:25116801
 著者        Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V
 タイトル      A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
 雑誌        Hum Mutat 35:1163-70 (2014)
 DOI:10.1002/humu.22631","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02320"">H02320</a>",CASQ1 凝集を伴う空胞性ミオパチー,Vacuolar myopathy with CASQ1 aggregates (VMCQA) is an autosomal dominant benign vacuolar myopathy and hyperCKemia. VMCQA is the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1. Mutations in the CASQ1 gene  have been found in patients with VMCQA.,,"CASQ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:844"">844</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23468"">K23468</a>]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020914"">D020914</a>
 OMIM: <a href=""https://www.omim.org/entry/616231"">616231</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26136523"">26136523</a>
 著者        Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M
 タイトル      A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
 雑誌        J Med Genet 52:617-26 (2015)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102882"">10.1136/jmedgenet-2014-102882</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25116801"">25116801</a>
 著者        Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V
 タイトル      A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
 雑誌        Hum Mutat 35:1163-70 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22631"">10.1002/humu.22631</a>"
H02321,早期発症ミオパチー・反射消失・呼吸困難および嚥下障害,,,"Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual features on muscle biopsy. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause EMRDD.",筋骨格疾患,,MEGF10 [HSA:84466] [KO:K24068],,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.8
 OMIM: 614399","PMID:22371254
 著者        Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bonnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB
 タイトル      Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
 雑誌        Neurogenetics 13:115-24 (2012)
 DOI:10.1007/s10048-012-0315-z
 PMID:22101682
 著者        Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hubner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA
 タイトル      Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
 雑誌        Nat Genet 43:1189-92 (2011)
 DOI:10.1038/ng.995","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02321"">H02321</a>",早期発症ミオパチー・反射消失・呼吸困難および嚥下障害,"Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual features on muscle biopsy. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause EMRDD.",,"MEGF10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84466"">84466</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24068"">K24068</a>]",,,,,,"ICD-11: 8C72.Y
 ICD-10: G71.8
 OMIM: <a href=""https://www.omim.org/entry/614399"">614399</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22371254"">22371254</a>
 著者        Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bonnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB
 タイトル      Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
 雑誌        Neurogenetics 13:115-24 (2012)
 DOI:<a href=""https://doi.org/10.1007/s10048-012-0315-z"">10.1007/s10048-012-0315-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22101682"">22101682</a>
 著者        Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hubner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA
 タイトル      Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
 雑誌        Nat Genet 43:1189-92 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.995"">10.1038/ng.995</a>"
H02322,"アミロイド症フィンランド型;
 Meretoja 症候群;
 格子状角膜変性を伴うアミロイド脳神経障害
 上位グループ    家族性アミロイド症 [DS:H00845]
 格子状角膜変性症 [DS:H00956]",,,"Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice cornea1 dystrophy, progressive cranial neuropathy and systemic amyloid deposits.",神経系疾患,,GSN [HSA:2934] [KO:K05768],,,,,,"ICD-11: 5D00.2Y
 ICD-10: E85.1
 MeSH: C537459
 OMIM: 105120","PMID:2176164
 著者        Maury CP, Kere J, Tolvanen R, de la Chapelle A
 タイトル      Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
 雑誌        FEBS Lett 276:75-7 (1990)
 DOI:10.1016/0014-5793(90)80510-P
 PMID:1322359
 著者        de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP
 タイトル      Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
 雑誌        Genomics 13:898-901 (1992)
 DOI:10.1016/0888-7543(92)90182-R","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02322"">H02322</a>","アミロイド症フィンランド型;
 Meretoja 症候群;
 格子状角膜変性を伴うアミロイド脳神経障害
 上位グループ    家族性アミロイド症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00845"">H00845</a>]
 格子状角膜変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00956"">H00956</a>]","Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice cornea1 dystrophy, progressive cranial neuropathy and systemic amyloid deposits.",,"GSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2934"">2934</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05768"">K05768</a>]",,,,,,"ICD-11: 5D00.2Y
 ICD-10: E85.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537459"">C537459</a>
 OMIM: <a href=""https://www.omim.org/entry/105120"">105120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2176164"">2176164</a>
 著者        Maury CP, Kere J, Tolvanen R, de la Chapelle A
 タイトル      Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
 雑誌        FEBS Lett 276:75-7 (1990)
 DOI:<a href=""https://doi.org/10.1016/0014-5793(90)80510-P"">10.1016/0014-5793(90)80510-P</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1322359"">1322359</a>
 著者        de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP
 タイトル      Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
 雑誌        Genomics 13:898-901 (1992)
 DOI:<a href=""https://doi.org/10.1016/0888-7543(92)90182-R"">10.1016/0888-7543(92)90182-R</a>"
H02323,Ruijs-Aalfs 症候群,,,"Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease.",内分泌代謝疾患,,SPRTN [HSA:83932] [KO:K24051],,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 OMIM: 616200","PMID:25261934
 著者        Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Hogel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmuller J, Nurnberg G, Nurnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C
 タイトル      Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
 雑誌        Nat Genet 46:1239-44 (2014)
 DOI:10.1038/ng.3103
 PMID:12503110
 著者        Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM
 タイトル      Atypical progeroid syndrome: an unknown helicase gene defect?
 雑誌        Am J Med Genet A 116A:295-9 (2003)
 DOI:10.1002/ajmg.a.10730","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02323"">H02323</a>",Ruijs-Aalfs 症候群,"Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease.",,"SPRTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83932"">83932</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24051"">K24051</a>]",,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 OMIM: <a href=""https://www.omim.org/entry/616200"">616200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25261934"">25261934</a>
 著者        Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Hogel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmuller J, Nurnberg G, Nurnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C
 タイトル      Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
 雑誌        Nat Genet 46:1239-44 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3103"">10.1038/ng.3103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12503110"">12503110</a>
 著者        Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM
 タイトル      Atypical progeroid syndrome: an unknown helicase gene defect?
 雑誌        Am J Med Genet A 116A:295-9 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10730"">10.1002/ajmg.a.10730</a>"
H02324,椎骨奇形を伴う仙骨無形成,,,"Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations in the T (brachyury) gene cause this disease.",先天奇形,,TBXT [HSA:6862] [KO:K10172],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.5
 MeSH: C537221
 OMIM: 615709","PMID:24253444
 著者        Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC
 タイトル      Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
 雑誌        J Med Genet 51:90-7 (2014)
 DOI:10.1136/jmedgenet-2013-102001
 PMID:24556085
 著者        Giampietro PF, Raggio CL, Blank RD
 タイトル      Heterozygous mutations in the T (brachyury) gene.
 雑誌        J Med Genet 51:354 (2014)
 DOI:10.1136/jmedgenet-2014-102308","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02324"">H02324</a>",椎骨奇形を伴う仙骨無形成,"Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations in the T (brachyury) gene cause this disease.",,"TBXT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6862"">6862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10172"">K10172</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537221"">C537221</a>
 OMIM: <a href=""https://www.omim.org/entry/615709"">615709</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24253444"">24253444</a>
 著者        Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC
 タイトル      Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
 雑誌        J Med Genet 51:90-7 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-102001"">10.1136/jmedgenet-2013-102001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24556085"">24556085</a>
 著者        Giampietro PF, Raggio CL, Blank RD
 タイトル      Heterozygous mutations in the T (brachyury) gene.
 雑誌        J Med Genet 51:354 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102308"">10.1136/jmedgenet-2014-102308</a>"
H02325,"Schaaf-Yang 症候群
 上位グループ    プラダー・ウィリー症候群 [DS:H00478]
 男子性腺機能不全症 [DS:H02027]",,,"Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported that truncating mutations in MAGEL2, which is located in the Prader-Willi critical region 15q11-13, cause this disease.",先天奇形,,MAGEL2 [HSA:54551] [KO:K23950],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.1
 OMIM: 615547","PMID:24076603
 著者        Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y
 タイトル      Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
 雑誌        Nat Genet 45:1405-8 (2013)
 DOI:10.1038/ng.2776
 PMID:27195816
 著者        Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP
 タイトル      The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
 雑誌        Genet Med 19:45-52 (2017)
 DOI:10.1038/gim.2016.53","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02325"">H02325</a>","Schaaf-Yang 症候群
 上位グループ    プラダー・ウィリー症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00478"">H00478</a>]
 男子性腺機能不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02027"">H02027</a>]","Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00478],"">H00478],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:manifesting"">manifesting</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:developmental"">developmental</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:delay,"">delay,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:intellectual"">intellectual</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disability,"">disability,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hypotonia,"">hypotonia,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:feeding"">feeding</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:difficulties,"">difficulties,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:autism"">autism</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:spectrum"">spectrum</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disorder."">disorder.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported"">reported</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:truncating"">truncating</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MAGEL2,"">MAGEL2,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:located"">located</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Prader-Willi"">Prader-Willi</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:critical"">critical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:region"">region</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:15q11-13,"">15q11-13,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:this"">this</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease."">disease.</a>",,"MAGEL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54551"">54551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23950"">K23950</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/615547"">615547</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24076603"">24076603</a>
 著者        Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y
 タイトル      Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
 雑誌        Nat Genet 45:1405-8 (2013)
 DOI:<a href=""https://doi.org/10.1038/ng.2776"">10.1038/ng.2776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27195816"">27195816</a>
 著者        Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP
 タイトル      The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
 雑誌        Genet Med 19:45-52 (2017)
 DOI:<a href=""https://doi.org/10.1038/gim.2016.53"">10.1038/gim.2016.53</a>"
H02326,"Keipert 症候群;
 Nasodigitoacoustic 症候群",,,"Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.",先天奇形,,GPC4 [HSA:2239] [KO:K08110],,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: C538337
 OMIM: 301026","PMID:17726694
 著者        Amor DJ, Dahl HH, Bahlo M, Bankier A
 タイトル      Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
 雑誌        Am J Med Genet A 143A:2236-41 (2007)
 DOI:10.1002/ajmg.a.31917
 PMID:30982611
 著者        Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ
 タイトル      Pathogenic Variants in GPC4 Cause Keipert Syndrome.
 雑誌        Am J Hum Genet 104:914-924 (2019)
 DOI:10.1016/j.ajhg.2019.02.026","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02326"">H02326</a>","Keipert 症候群;
 Nasodigitoacoustic 症候群","Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.",,"GPC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2239"">2239</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08110"">K08110</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538337"">C538337</a>
 OMIM: <a href=""https://www.omim.org/entry/301026"">301026</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17726694"">17726694</a>
 著者        Amor DJ, Dahl HH, Bahlo M, Bankier A
 タイトル      Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
 雑誌        Am J Med Genet A 143A:2236-41 (2007)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31917"">10.1002/ajmg.a.31917</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30982611"">30982611</a>
 著者        Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ
 タイトル      Pathogenic Variants in GPC4 Cause Keipert Syndrome.
 雑誌        Am J Hum Genet 104:914-924 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.026"">10.1016/j.ajhg.2019.02.026</a>"
H02327,KBG 症候群,,,"KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.",先天奇形,,ANKRD11 [HSA:29123] [KO:K21436],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C537015
 OMIM: 148050","PMID:15523620
 著者        Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B
 タイトル      KBG syndrome in a cohort of Italian patients.
 雑誌        Am J Med Genet A 131:144-9 (2004)
 DOI:10.1002/ajmg.a.30292
 PMID:21782149
 著者        Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M
 タイトル      Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
 雑誌        Am J Hum Genet 89:289-94 (2011)
 DOI:10.1016/j.ajhg.2011.06.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02327"">H02327</a>",KBG 症候群,"KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.",,"ANKRD11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29123"">29123</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21436"">K21436</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537015"">C537015</a>
 OMIM: <a href=""https://www.omim.org/entry/148050"">148050</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15523620"">15523620</a>
 著者        Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B
 タイトル      KBG syndrome in a cohort of Italian patients.
 雑誌        Am J Med Genet A 131:144-9 (2004)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.30292"">10.1002/ajmg.a.30292</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21782149"">21782149</a>
 著者        Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M
 タイトル      Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
 雑誌        Am J Hum Genet 89:289-94 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.06.007"">10.1016/j.ajhg.2011.06.007</a>"
H02328,Sifrim-Hitz-Weiss 症候群,,,"Sifrim-Hitz-Weiss syndrome is characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. It has been reported that de novo mutations in CHD4 cause this disease. CHD4 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.",先天奇形,,CHD4 [HSA:1108] [KO:K11643],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 617159","PMID:27616479
 著者        Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M
 タイトル      De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
 雑誌        Am J Hum Genet 99:934-941 (2016)
 DOI:10.1016/j.ajhg.2016.08.001
 PMID:27479907
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:10.1038/ng.3627","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02328"">H02328</a>",Sifrim-Hitz-Weiss 症候群,"Sifrim-Hitz-Weiss syndrome is characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. It has been reported that de novo mutations in CHD4 cause this disease. CHD4 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.",,"CHD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1108"">1108</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11643"">K11643</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/617159"">617159</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27616479"">27616479</a>
 著者        Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M
 タイトル      De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
 雑誌        Am J Hum Genet 99:934-941 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.001"">10.1016/j.ajhg.2016.08.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27479907"">27479907</a>
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3627"">10.1038/ng.3627</a>"
H02329,肝性リパーゼ欠損症,,,"Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease.",先天性代謝異常症,,LIPC [HSA:3990] [KO:K22283],,,,,,"ICD-11: 5C80.Y
 ICD-10: E78.4
 MeSH: C535904
 OMIM: 614025","PMID:6961921 (LIPC)
 著者        Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G
 タイトル      Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.
 雑誌        Atherosclerosis 45:161-79 (1982)
 DOI:10.1016/0021-9150(82)90136-8
 PMID:12777476 (LIPC)
 著者        Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B
 タイトル      Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.
 雑誌        J Lipid Res 44:1508-14 (2003)
 DOI:10.1194/jlr.M200479-JLR200","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02329"">H02329</a>",肝性リパーゼ欠損症,"Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease.",,"LIPC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3990"">3990</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22283"">K22283</a>]",,,,,,"ICD-11: 5C80.Y
 ICD-10: E78.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535904"">C535904</a>
 OMIM: <a href=""https://www.omim.org/entry/614025"">614025</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6961921"">6961921</a> (LIPC)
 著者        Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G
 タイトル      Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.
 雑誌        Atherosclerosis 45:161-79 (1982)
 DOI:<a href=""https://doi.org/10.1016/0021-9150(82)90136-8"">10.1016/0021-9150(82)90136-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12777476"">12777476</a> (LIPC)
 著者        Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B
 タイトル      Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.
 雑誌        J Lipid Res 44:1508-14 (2003)
 DOI:<a href=""https://doi.org/10.1194/jlr.M200479-JLR200"">10.1194/jlr.M200479-JLR200</a>"
H02330,膵リパーゼ欠損症,,,"Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. It has been reported that PNLIP mutations are causative for the phenotype.",先天性代謝異常症,,PNLIP [HSA:5406] [KO:K14073],,,,,,"ICD-11: 5C62
 ICD-10: K90.3
 OMIM: 614338","PMID:24262094
 著者        Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A
 タイトル      Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
 雑誌        J Lipid Res 55:307-12 (2014)
 DOI:10.1194/jlr.P041103
 PMID:6153713
 著者        Figarella C, De Caro A, Leupold D, Poley JR
 タイトル      Congenital pancreatic lipase deficiency.
 雑誌        J Pediatr 96:412-6 (1980)
 DOI:10.1016/s0022-3476(80)80683-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02330"">H02330</a>",膵リパーゼ欠損症,"Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. It has been reported that PNLIP mutations are causative for the phenotype.",,"PNLIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5406"">5406</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14073"">K14073</a>]",,,,,,"ICD-11: 5C62
 ICD-10: K90.3
 OMIM: <a href=""https://www.omim.org/entry/614338"">614338</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24262094"">24262094</a>
 著者        Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A
 タイトル      Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
 雑誌        J Lipid Res 55:307-12 (2014)
 DOI:<a href=""https://doi.org/10.1194/jlr.P041103"">10.1194/jlr.P041103</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6153713"">6153713</a>
 著者        Figarella C, De Caro A, Leupold D, Poley JR
 タイトル      Congenital pancreatic lipase deficiency.
 雑誌        J Pediatr 96:412-6 (1980)
 DOI:<a href=""https://doi.org/10.1016/s0022-3476(80)80683-4"">10.1016/s0022-3476(80)80683-4</a>"
H02331,"消化管異常および免疫不全症候群;
 多発性小腸閉鎖症を伴う複合免疫不全症",,,Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.,先天奇形,,TTC7A [HSA:57217] [KO:K21843],,,,,,"ICD-11: LB1Y
 ICD-10: Q82.8
 OMIM: 243150","PMID:24417819
 著者        Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM
 タイトル      Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
 雑誌        Gastroenterology 146:1028-39 (2014)
 DOI:10.1053/j.gastro.2014.01.015
 PMID:23830146
 著者        Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD
 タイトル      Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
 雑誌        J Allergy Clin Immunol 132:656-664.e17 (2013)
 DOI:10.1016/j.jaci.2013.06.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02331"">H02331</a>","消化管異常および免疫不全症候群;
 多発性小腸閉鎖症を伴う複合免疫不全症",Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.,,"TTC7A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57217"">57217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21843"">K21843</a>]",,,,,,"ICD-11: LB1Y
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/243150"">243150</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24417819"">24417819</a>
 著者        Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM
 タイトル      Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
 雑誌        Gastroenterology 146:1028-39 (2014)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2014.01.015"">10.1053/j.gastro.2014.01.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23830146"">23830146</a>
 著者        Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD
 タイトル      Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
 雑誌        J Allergy Clin Immunol 132:656-664.e17 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2013.06.013"">10.1016/j.jaci.2013.06.013</a>"
H02332,"軸前母指側多指(趾)
 下位グループ    多合指症 [DS:H01226]",,,"Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD.",先天奇形,,"(PPD1) GLI1 [HSA:2735] [KO:K16797]
 (PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217]
 (PPD4) GLI3 [HSA:2737] [KO:K06230]",,,,,"ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.","ICD-11: LB78.2 LB78.3
 ICD-10: Q69.0
 MeSH: D017689
 OMIM: 174400 174500 174700","PMID:30620395
 著者        Ullah A, Umair M, Majeed AI, Abdullah, Jan A, Ahmad W
 タイトル      A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.
 雑誌        Clin Genet 95:540-541 (2019)
 DOI:10.1111/cge.13495
 PMID:24777739
 著者        VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N
 タイトル      A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
 雑誌        Hum Mutat 35:945-8 (2014)
 DOI:10.1002/humu.22581
 PMID:30459804
 著者        Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M
 タイトル      Clinical Genetics of Polydactyly: An Updated Review.
 雑誌        Front Genet 9:447 (2018)
 DOI:10.3389/fgene.2018.00447","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02332"">H02332</a>","軸前母指側多指(趾)
 下位グループ    多合指症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01226"">H01226</a>]","Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD.",,"(PPD1) GLI1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2735"">2735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16797"">K16797</a>]
 (PPD2) ZRS/LMBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64327"">64327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25217"">K25217</a>]
 (PPD4) GLI3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2737"">2737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06230"">K06230</a>]",,,,,"ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.","ICD-11: LB78.2 LB78.3
 ICD-10: Q69.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017689"">D017689</a>
 OMIM: <a href=""https://www.omim.org/entry/174400"">174400</a> <a href=""https://www.omim.org/entry/174500"">174500</a> <a href=""https://www.omim.org/entry/174700"">174700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30620395"">30620395</a>
 著者        Ullah A, Umair M, Majeed AI, Abdullah, Jan A, Ahmad W
 タイトル      A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.
 雑誌        Clin Genet 95:540-541 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13495"">10.1111/cge.13495</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24777739"">24777739</a>
 著者        VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N
 タイトル      A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
 雑誌        Hum Mutat 35:945-8 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22581"">10.1002/humu.22581</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30459804"">30459804</a>
 著者        Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M
 タイトル      Clinical Genetics of Polydactyly: An Updated Review.
 雑誌        Front Genet 9:447 (2018)
 DOI:<a href=""https://doi.org/10.3389/fgene.2018.00447"">10.3389/fgene.2018.00447</a>"
H02333,Laurin-Sandrow 症候群,,,"Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located within intron 5 of LMBR1.",先天奇形,,LMBR1 [HSA:64327] [KO:K25217],,,,,,"ICD-11: LD26.2
 ICD-10: Q87.2
 MeSH: C535689
 OMIM: 135750","PMID:24456159
 著者        Lohan S, Spielmann M, Doelken SC, Flottmann R, Muhammad F, Baig SM, Wajid M, Hulsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E
 タイトル      Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
 雑誌        Clin Genet 86:318-25 (2014)
 DOI:10.1111/cge.12352
 PMID:18792985
 著者        Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI
 タイトル      Laurin-Sandrow syndrome: review and redefinition.
 雑誌        Am J Med Genet A 146A:2557-65 (2008)
 DOI:10.1002/ajmg.a.32393","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02333"">H02333</a>",Laurin-Sandrow 症候群,"Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located within intron 5 of LMBR1.",,"LMBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64327"">64327</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25217"">K25217</a>]",,,,,,"ICD-11: LD26.2
 ICD-10: Q87.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535689"">C535689</a>
 OMIM: <a href=""https://www.omim.org/entry/135750"">135750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24456159"">24456159</a>
 著者        Lohan S, Spielmann M, Doelken SC, Flottmann R, Muhammad F, Baig SM, Wajid M, Hulsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E
 タイトル      Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
 雑誌        Clin Genet 86:318-25 (2014)
 DOI:<a href=""https://doi.org/10.1111/cge.12352"">10.1111/cge.12352</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18792985"">18792985</a>
 著者        Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI
 タイトル      Laurin-Sandrow syndrome: review and redefinition.
 雑誌        Am J Med Genet A 146A:2557-65 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32393"">10.1002/ajmg.a.32393</a>"
H02334,Pierpont 症候群,,,"Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been described recently in patients with this disease.",先天奇形,,TBL1XR1 [HSA:79718] [KO:K04508],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 602342","PMID:26769062
 著者        Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC
 タイトル      A specific mutation in TBL1XR1 causes Pierpont syndrome.
 雑誌        J Med Genet 53:330-7 (2016)
 DOI:10.1136/jmedgenet-2015-103233
 PMID:28562391
 著者        Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schrock E, Tzschach A
 タイトル      Pierpont syndrome: report of a new patient.
 雑誌        Clin Dysmorphol 26:205-208 (2017)
 DOI:10.1097/MCD.0000000000000184","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02334"">H02334</a>",Pierpont 症候群,"Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been described recently in patients with this disease.",,"TBL1XR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79718"">79718</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04508"">K04508</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/602342"">602342</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26769062"">26769062</a>
 著者        Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC
 タイトル      A specific mutation in TBL1XR1 causes Pierpont syndrome.
 雑誌        J Med Genet 53:330-7 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103233"">10.1136/jmedgenet-2015-103233</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28562391"">28562391</a>
 著者        Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schrock E, Tzschach A
 タイトル      Pierpont syndrome: report of a new patient.
 雑誌        Clin Dysmorphol 26:205-208 (2017)
 DOI:<a href=""https://doi.org/10.1097/MCD.0000000000000184"">10.1097/MCD.0000000000000184</a>"
H02335,着床前胚致死,,,"Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally expressed proteins and required for early embryonic cell division. Mutations in PADI6 have also been identified in individuals with PREMBL.",生殖系疾患,,"(PREMBL1) TLE6 [HSA:79816] [KO:K04497]
 (PREMBL2) PADI6 [HSA:353238] [KO:K01481]",,,,,,"ICD-11: GA31.0Y
 ICD-10: N97.8
 OMIM: 616814 617234","PMID:26537248 (TLE6)
 著者        Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS
 タイトル      TLE6 mutation causes the earliest known human embryonic lethality.
 雑誌        Genome Biol 16:240 (2015)
 DOI:10.1186/s13059-015-0792-0
 PMID:27545678 (PADI6)
 著者        Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L
 タイトル      Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
 雑誌        Am J Hum Genet 99:744-752 (2016)
 DOI:10.1016/j.ajhg.2016.06.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02335"">H02335</a>",着床前胚致死,"Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally expressed proteins and required for early embryonic cell division. Mutations in PADI6 have also been identified in individuals with PREMBL.",,"(PREMBL1) TLE6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79816"">79816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04497"">K04497</a>]
 (PREMBL2) PADI6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:353238"">353238</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01481"">K01481</a>]",,,,,,"ICD-11: GA31.0Y
 ICD-10: N97.8
 OMIM: <a href=""https://www.omim.org/entry/616814"">616814</a> <a href=""https://www.omim.org/entry/617234"">617234</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26537248"">26537248</a> (TLE6)
 著者        Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS
 タイトル      TLE6 mutation causes the earliest known human embryonic lethality.
 雑誌        Genome Biol 16:240 (2015)
 DOI:<a href=""https://doi.org/10.1186/s13059-015-0792-0"">10.1186/s13059-015-0792-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27545678"">27545678</a> (PADI6)
 著者        Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L
 タイトル      Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
 雑誌        Am J Hum Genet 99:744-752 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.024"">10.1016/j.ajhg.2016.06.024</a>"
H02336,遺伝性難聴 (Y連鎖),,,"Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although Y-linked deafness is unusual and extremely rare, missense mutations in the TBL1Y gene has been found in families affected by HHL.",神経系疾患,,(DFNY2) TBL1Y [HSA:90665] [KO:K04508],,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: D006319
 OMIM: 400043 400047","PMID:30341416
 著者        Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P
 タイトル      TBL1Y: a new gene involved in syndromic hearing loss.
 雑誌        Eur J Hum Genet 27:466-474 (2019)
 DOI:10.1038/s41431-018-0282-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02336"">H02336</a>",遺伝性難聴 (Y連鎖),"Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although Y-linked deafness is unusual and extremely rare, missense mutations in the TBL1Y gene has been found in families affected by HHL.",,"(DFNY2) TBL1Y [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90665"">90665</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04508"">K04508</a>]",,,,,,"ICD-11: AB50
 ICD-10: H91.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006319"">D006319</a>
 OMIM: <a href=""https://www.omim.org/entry/400043"">400043</a> <a href=""https://www.omim.org/entry/400047"">400047</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30341416"">30341416</a>
 著者        Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P
 タイトル      TBL1Y: a new gene involved in syndromic hearing loss.
 雑誌        Eur J Hum Genet 27:466-474 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0282-4"">10.1038/s41431-018-0282-4</a>"
H02337,Skraban-Deardorff 症候群,,,"Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease.",先天奇形,,WDR26 [HSA:80232] [KO:K22382],,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: 617616","PMID:28686853
 著者        Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA
 タイトル      WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
 雑誌        Am J Hum Genet 101:139-148 (2017)
 DOI:10.1016/j.ajhg.2017.06.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02337"">H02337</a>",Skraban-Deardorff 症候群,"Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease.",,"WDR26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80232"">80232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22382"">K22382</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/617616"">617616</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28686853"">28686853</a>
 著者        Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA
 タイトル      WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
 雑誌        Am J Hum Genet 101:139-148 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.06.002"">10.1016/j.ajhg.2017.06.002</a>"
H02338,PEHO 様症候群,,,"PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals.",神経系疾患,,CCDC88A [HSA:55704] [KO:K25392],,,,,,"ICD-11: LD90.Y
 ICD-10: G31.8
 MeSH: C536317
 OMIM: 617507","PMID:26917597
 著者        Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG
 タイトル      CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
 雑誌        Brain 139:1036-44 (2016)
 DOI:10.1093/brain/aww014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02338"">H02338</a>",PEHO 様症候群,"PEHO syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02252"">H02252</a>] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals.",,"CCDC88A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55704"">55704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25392"">K25392</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: G31.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536317"">C536317</a>
 OMIM: <a href=""https://www.omim.org/entry/617507"">617507</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26917597"">26917597</a>
 著者        Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG
 タイトル      CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
 雑誌        Brain 139:1036-44 (2016)
 DOI:<a href=""https://doi.org/10.1093/brain/aww014"">10.1093/brain/aww014</a>"
H02339,"オーディトリーニューロパチー
 下位グループ    常染色体優性遺伝性オーディトリーニューロパチー (AUNA)
 オーディトリーニューロパチーおよび視神経萎縮 (ANOA)",,,"Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy. Recently, it has been reported that an autosomal recessive auditory neuropathy and optic atrophy (ANOA) is caused by mutations in the FDXR gene.",神経系疾患,,"(AUNA1) DIAPH3 [HSA:81624] [KO:K05745]
 (ANOA) FDXR [HSA:2232] [KO:K18914]",,,,,,"ICD-11: AB57
 ICD-10: H93.2
 MeSH: C563790
 OMIM: 609129 617717","PMID:15520414
 著者        Kim TB, Isaacson B, Sivakumaran TA, Starr A, Keats BJ, Lesperance MM
 タイトル      A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
 雑誌        J Med Genet 41:872-6 (2004)
 DOI:10.1136/jmg.2004.020628
 PMID:20624953
 著者        Schoen CJ, Emery SB, Thorne MC, Ammana HR, Sliwerska E, Arnett J, Hortsch M, Hannan F, Burmeister M, Lesperance MM
 タイトル      Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
 雑誌        Proc Natl Acad Sci U S A 107:13396-401 (2010)
 DOI:10.1073/pnas.1003027107
 PMID:28965846
 著者        Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rotig A, Delahodde A, Marlin S
 タイトル      FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
 雑誌        Am J Hum Genet 101:630-637 (2017)
 DOI:10.1016/j.ajhg.2017.09.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02339"">H02339</a>","オーディトリーニューロパチー
 下位グループ    常染色体優性遺伝性オーディトリーニューロパチー (AUNA)
 オーディトリーニューロパチーおよび視神経萎縮 (ANOA)","Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy. Recently, it has been reported that an autosomal recessive auditory neuropathy and optic atrophy (ANOA) is caused by mutations in the FDXR gene.",,"(AUNA1) DIAPH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81624"">81624</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05745"">K05745</a>]
 (ANOA) FDXR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2232"">2232</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18914"">K18914</a>]",,,,,,"ICD-11: AB57
 ICD-10: H93.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563790"">C563790</a>
 OMIM: <a href=""https://www.omim.org/entry/609129"">609129</a> <a href=""https://www.omim.org/entry/617717"">617717</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15520414"">15520414</a>
 著者        Kim TB, Isaacson B, Sivakumaran TA, Starr A, Keats BJ, Lesperance MM
 タイトル      A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
 雑誌        J Med Genet 41:872-6 (2004)
 DOI:<a href=""https://doi.org/10.1136/jmg.2004.020628"">10.1136/jmg.2004.020628</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20624953"">20624953</a>
 著者        Schoen CJ, Emery SB, Thorne MC, Ammana HR, Sliwerska E, Arnett J, Hortsch M, Hannan F, Burmeister M, Lesperance MM
 タイトル      Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
 雑誌        Proc Natl Acad Sci U S A 107:13396-401 (2010)
 DOI:<a href=""https://doi.org/10.1073/pnas.1003027107"">10.1073/pnas.1003027107</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28965846"">28965846</a>
 著者        Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rotig A, Delahodde A, Marlin S
 タイトル      FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
 雑誌        Am J Hum Genet 101:630-637 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.007"">10.1016/j.ajhg.2017.09.007</a>"
H02340,吸収性高カルシウム尿症,,,"Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and iPTH. In the patients, eighteen base substitutions were identified in the soluble adenylate cyclase gene.",先天性代謝異常症,,ADCY10 [HSA:55811] [KO:K11265],,,,,,"ICD-11: MF98.0
 ICD-10: E83.5
 MeSH: C564600 C562790
 OMIM: 143870 607258","PMID:11932268
 著者        Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY
 タイトル      Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.
 雑誌        J Clin Endocrinol Metab 87:1476-85 (2002)
 DOI:10.1210/jcem.87.4.8300","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02340"">H02340</a>",吸収性高カルシウム尿症,"Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and iPTH. In the patients, eighteen base substitutions were identified in the soluble adenylate cyclase gene.",,"ADCY10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55811"">55811</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11265"">K11265</a>]",,,,,,"ICD-11: MF98.0
 ICD-10: E83.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564600"">C564600</a> <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562790"">C562790</a>
 OMIM: <a href=""https://www.omim.org/entry/143870"">143870</a> <a href=""https://www.omim.org/entry/607258"">607258</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11932268"">11932268</a>
 著者        Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY
 タイトル      Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.
 雑誌        J Clin Endocrinol Metab 87:1476-85 (2002)
 DOI:<a href=""https://doi.org/10.1210/jcem.87.4.8300"">10.1210/jcem.87.4.8300</a>"
H02341,Goldmann-Favre 症候群,,,"Goldmann-Favre syndrome (GFS) is an autosomal recessive progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation. GFS and enhanced S-cone syndrome [DS:H02075] represent two distinct entities on a spectrum of retinal degenerative disease caused by mutations in the same gene.",神経系疾患,,NR2E3 [HSA:10002] [KO:K08546],,,,,"Because appropriate ERG analyses demonstrated a relatively enhanced S-cone function in GFS patients, it was concluded that enhanced S-cone sensitivity syndrome and GFS were not distinct entities but simply two identifiable phenotypes in a wide spectrum of clinical expression of a same retinal degeneration.","ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C564835
 OMIM: 268100","PMID:19718767
 著者        Schorderet DF, Escher P
 タイトル      NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
 雑誌        Hum Mutat 30:1475-85 (2009)
 DOI:10.1002/humu.21096
 PMID:29576899
 著者        Ozates S, Tekin K, Teke MY
 タイトル      Goldmann-Favre Syndrome: Case Series.
 雑誌        Turk J Ophthalmol 48:47-51 (2018)
 DOI:10.4274/tjo.76158","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02341"">H02341</a>",Goldmann-Favre 症候群,"Goldmann-Favre syndrome (GFS) is an autosomal recessive progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation. GFS and enhanced S-cone syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02075"">H02075</a>] represent two distinct entities on a spectrum of retinal degenerative disease caused by mutations in the same gene.",,"NR2E3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10002"">10002</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08546"">K08546</a>]",,,,,"Because appropriate ERG analyses demonstrated a relatively enhanced S-cone function in GFS patients, it was concluded that enhanced S-cone sensitivity syndrome and GFS were not distinct entities but simply two identifiable phenotypes in a wide spectrum of clinical expression of a same retinal degeneration.","ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564835"">C564835</a>
 OMIM: <a href=""https://www.omim.org/entry/268100"">268100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19718767"">19718767</a>
 著者        Schorderet DF, Escher P
 タイトル      NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
 雑誌        Hum Mutat 30:1475-85 (2009)
 DOI:<a href=""https://doi.org/10.1002/humu.21096"">10.1002/humu.21096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29576899"">29576899</a>
 著者        Ozates S, Tekin K, Teke MY
 タイトル      Goldmann-Favre Syndrome: Case Series.
 雑誌        Turk J Ophthalmol 48:47-51 (2018)
 DOI:<a href=""https://doi.org/10.4274/tjo.76158"">10.4274/tjo.76158</a>"
H02342,"前頭側頭型認知症および筋萎縮性側索硬化症
 上位グループ    筋萎縮性側索硬化症 (ALS) [DS:H00058]
 前頭側頭葉変性症 [DS:H00078]",,,"Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.",神経系疾患,,"(FTDALS1) C9orf72 [HSA:203228] [KO:K23609]
 (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759]
 (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381]
 (FTDALS4) TBK1 [HSA:29110] [KO:K05410]
 (FTDALS5) CCNF [HSA:899] [KO:K10289]
 (FTDALS6) VCP [HSA:7415] [KO:K13525]
 (FTDALS7) CHMP2B [HSA:25978] [KO:K12192]
 (FTDALS8) CYLD [HSA:1540] [KO:K08601]",,,,,,"ICD-11: 8B60.5
 ICD-10: G12.2
 MeSH: C566288
 OMIM: 105550 615911 616437 616439 619141 619132 613954 600795","PMID:23393093 (C9orf72)
 著者        Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D
 タイトル      The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
 雑誌        Science 339:1335-8 (2013)
 DOI:10.1126/science.1232927
 PMID:24934289 (CHCHD10)
 著者        Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Auge G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V
 タイトル      A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
 雑誌        Brain 137:2329-45 (2014)
 DOI:10.1093/brain/awu138
 PMID:22972638 (SQSTM1)
 著者        Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L
 タイトル      SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
 雑誌        Neurology 79:1556-62 (2012)
 DOI:10.1212/WNL.0b013e31826e25df
 PMID:25803835 (TBK1)
 著者        Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, Marroquin N, Nordin F, Hubers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordstrom U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brannstrom T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH
 タイトル      Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
 雑誌        Nat Neurosci 18:631-6 (2015)
 DOI:10.1038/nn.4000
 PMID:27080313 (CCNF)
 著者        Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Munoz-Blanco JL, Esteban-Perez J, Rabano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, Garcia-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP
 タイトル      CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
 雑誌        Nat Commun 7:11253 (2016)
 DOI:10.1038/ncomms11253
 PMID:21145000 (VCP)
 著者        Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chio A, Traynor BJ
 タイトル      Exome sequencing reveals VCP mutations as a cause of familial ALS.
 雑誌        Neuron 68:857-64 (2010)
 DOI:10.1016/j.neuron.2010.11.036
 PMID:16807408 (CHMP2B)
 著者        Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM
 タイトル      ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
 雑誌        Neurology 67:1074-7 (2006)
 DOI:10.1212/01.wnl.0000231510.89311.8b
 PMID:32185393 (CYLD)
 著者        Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB
 タイトル      CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
 雑誌        Brain 143:783-799 (2020)
 DOI:10.1093/brain/awaa039","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02342"">H02342</a>","前頭側頭型認知症および筋萎縮性側索硬化症
 上位グループ    筋萎縮性側索硬化症 (ALS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00058"">H00058</a>]
 前頭側頭葉変性症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00078"">H00078</a>]","Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.",,"(FTDALS1) C9orf72 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:203228"">203228</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23609"">K23609</a>]
 (FTDALS2) CHCHD10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:400916"">400916</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22759"">K22759</a>]
 (FTDALS3) SQSTM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8878"">8878</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14381"">K14381</a>]
 (FTDALS4) TBK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29110"">29110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05410"">K05410</a>]
 (FTDALS5) CCNF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:899"">899</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10289"">K10289</a>]
 (FTDALS6) VCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7415"">7415</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13525"">K13525</a>]
 (FTDALS7) CHMP2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25978"">25978</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12192"">K12192</a>]
 (FTDALS8) CYLD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1540"">1540</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08601"">K08601</a>]",,,,,,"ICD-11: 8B60.5
 ICD-10: G12.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C566288"">C566288</a>
 OMIM: <a href=""https://www.omim.org/entry/105550"">105550</a> <a href=""https://www.omim.org/entry/615911"">615911</a> <a href=""https://www.omim.org/entry/616437"">616437</a> <a href=""https://www.omim.org/entry/616439"">616439</a> <a href=""https://www.omim.org/entry/619141"">619141</a> <a href=""https://www.omim.org/entry/619132"">619132</a> <a href=""https://www.omim.org/entry/613954"">613954</a> <a href=""https://www.omim.org/entry/600795"">600795</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23393093"">23393093</a> (C9orf72)
 著者        Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D
 タイトル      The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
 雑誌        Science 339:1335-8 (2013)
 DOI:<a href=""https://doi.org/10.1126/science.1232927"">10.1126/science.1232927</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24934289"">24934289</a> (CHCHD10)
 著者        Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Auge G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V
 タイトル      A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
 雑誌        Brain 137:2329-45 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awu138"">10.1093/brain/awu138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22972638"">22972638</a> (SQSTM1)
 著者        Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L
 タイトル      SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
 雑誌        Neurology 79:1556-62 (2012)
 DOI:<a href=""https://doi.org/10.1212/WNL.0b013e31826e25df"">10.1212/WNL.0b013e31826e25df</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25803835"">25803835</a> (TBK1)
 著者        Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, Marroquin N, Nordin F, Hubers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordstrom U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brannstrom T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH
 タイトル      Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
 雑誌        Nat Neurosci 18:631-6 (2015)
 DOI:<a href=""https://doi.org/10.1038/nn.4000"">10.1038/nn.4000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27080313"">27080313</a> (CCNF)
 著者        Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Munoz-Blanco JL, Esteban-Perez J, Rabano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, Garcia-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP
 タイトル      CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
 雑誌        Nat Commun 7:11253 (2016)
 DOI:<a href=""https://doi.org/10.1038/ncomms11253"">10.1038/ncomms11253</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21145000"">21145000</a> (VCP)
 著者        Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chio A, Traynor BJ
 タイトル      Exome sequencing reveals VCP mutations as a cause of familial ALS.
 雑誌        Neuron 68:857-64 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2010.11.036"">10.1016/j.neuron.2010.11.036</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16807408"">16807408</a> (CHMP2B)
 著者        Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM
 タイトル      ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
 雑誌        Neurology 67:1074-7 (2006)
 DOI:<a href=""https://doi.org/10.1212/01.wnl.0000231510.89311.8b"">10.1212/01.wnl.0000231510.89311.8b</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32185393"">32185393</a> (CYLD)
 著者        Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB
 タイトル      CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
 雑誌        Brain 143:783-799 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awaa039"">10.1093/brain/awaa039</a>"
H02343,EVEN-plus 症候群,,,"EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin, cause EVEN-plus syndrome.",先天奇形,,HSPA9 [HSA:3313] [KO:K04043],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: 616854","PMID:10424819
 著者        Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S
 タイトル      Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
 雑誌        J Med Genet 36:561-4 (1999)
 DOI:10.1136/jmg.36.7.561
 PMID:26598328
 著者        Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafe L, Rivolta C, Unger S, Superti-Furga A
 タイトル      Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
 雑誌        Sci Rep 5:17154 (2015)
 DOI:10.1038/srep17154
 PMID:30933555
 著者        Moseng MA, Nix JC, Page RC
 タイトル      Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
 雑誌        J Phys Chem B 123:3383-3396 (2019)
 DOI:10.1021/acs.jpcb.9b00071","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02343"">H02343</a>",EVEN-plus 症候群,"EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin, cause EVEN-plus syndrome.",,"HSPA9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3313"">3313</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04043"">K04043</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616854"">616854</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10424819"">10424819</a>
 著者        Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S
 タイトル      Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
 雑誌        J Med Genet 36:561-4 (1999)
 DOI:<a href=""https://doi.org/10.1136/jmg.36.7.561"">10.1136/jmg.36.7.561</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26598328"">26598328</a>
 著者        Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafe L, Rivolta C, Unger S, Superti-Furga A
 タイトル      Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
 雑誌        Sci Rep 5:17154 (2015)
 DOI:<a href=""https://doi.org/10.1038/srep17154"">10.1038/srep17154</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30933555"">30933555</a>
 著者        Moseng MA, Nix JC, Page RC
 タイトル      Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
 雑誌        J Phys Chem B 123:3383-3396 (2019)
 DOI:<a href=""https://doi.org/10.1021/acs.jpcb.9b00071"">10.1021/acs.jpcb.9b00071</a>"
H02344,"Cowchock 症候群;
 X-連鎖性シャルコー・マリー・トゥース病 4型
 上位グループ    シャルコー・マリー・トゥース病 [DS:H00264]",,,"Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene encoding apoptosis-inducing factor.",神経系疾患,,AIFM1 [HSA:9131] [KO:K04727],,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: C536450
 OMIM: 310490","PMID:8666389
 著者        Priest JM, Fischbeck KH, Nouri N, Keats BJ
 タイトル      A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
 雑誌        Genomics 29:409-12 (1995)
 DOI:10.1006/geno.1995.9987
 PMID:23217327
 著者        Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Bonnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH
 タイトル      Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
 雑誌        Am J Hum Genet 91:1095-102 (2012)
 DOI:10.1016/j.ajhg.2012.10.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02344"">H02344</a>","Cowchock 症候群;
 X-連鎖性シャルコー・マリー・トゥース病 4型
 上位グループ    シャルコー・マリー・トゥース病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>]","Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene encoding apoptosis-inducing factor.",,"AIFM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9131"">9131</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04727"">K04727</a>]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536450"">C536450</a>
 OMIM: <a href=""https://www.omim.org/entry/310490"">310490</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8666389"">8666389</a>
 著者        Priest JM, Fischbeck KH, Nouri N, Keats BJ
 タイトル      A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
 雑誌        Genomics 29:409-12 (1995)
 DOI:<a href=""https://doi.org/10.1006/geno.1995.9987"">10.1006/geno.1995.9987</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23217327"">23217327</a>
 著者        Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Bonnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH
 タイトル      Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
 雑誌        Am J Hum Genet 91:1095-102 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.008"">10.1016/j.ajhg.2012.10.008</a>"
H02345,常染色体劣性遺伝性末梢神経障害 (PNRIID),,,"Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP).",神経系疾患,,MCM3AP [HSA:8888] [KO:K24317],,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: C548028
 OMIM: 618124","PMID:28633435
 著者        Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lonnqvist T, Tyynismaa H
 タイトル      MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
 雑誌        Brain 140:2093-2103 (2017)
 DOI:10.1093/brain/awx138
 PMID:28969388
 著者        Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bonnemann CG, Yis U, Wirth B
 タイトル      Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
 雑誌        Brain 140:e65 (2017)
 DOI:10.1093/brain/awx222","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02345"">H02345</a>",常染色体劣性遺伝性末梢神経障害 (PNRIID),"Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP).",,"MCM3AP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8888"">8888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24317"">K24317</a>]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C548028"">C548028</a>
 OMIM: <a href=""https://www.omim.org/entry/618124"">618124</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28633435"">28633435</a>
 著者        Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lonnqvist T, Tyynismaa H
 タイトル      MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
 雑誌        Brain 140:2093-2103 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx138"">10.1093/brain/awx138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28969388"">28969388</a>
 著者        Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bonnemann CG, Yis U, Wirth B
 タイトル      Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
 雑誌        Brain 140:e65 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx222"">10.1093/brain/awx222</a>"
H02346,"低身長を伴う知的発達障害
 下位グループ    低身長、顔貌異常、言語障害を伴う知的発達障害 (IDDSFAS)
 行動異常、小頭症および低身長を伴う知的発達障害 (IDDABS)
 低身長および行動異常を伴う知的発達障害 (IDDSSBA)
 低身長および多様な骨格異常を伴う知的発達障害 (IDDSSA)
 上位グループ    症候群性知的発達障害 [DS:H02463]",,,Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short stature. Several underlying genetic causes of these diseases have been identified.,先天奇形,,"(IDDSFAS) FBXL3 [HSA:26224] [KO:K10269]
 (IDDABS) PUS7 [HSA:54517] [KO:K06176]
 (IDDSSBA) IQSEC1 [HSA:9922] [KO:K12495]
 (IDDSSA) WIPI2 [HSA:26100] [KO:K17908]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: 606220 618342 618687 618453","PMID:30481285
 著者        Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
 タイトル      Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
 雑誌        Hum Mol Genet 28:972-979 (2019)
 DOI:10.1093/hmg/ddy406
 PMID:17463252
 著者        Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM
 タイトル      The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.
 雑誌        Science 316:897-900 (2007)
 DOI:10.1126/science.1141138
 PMID:30526862
 著者        de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S
 タイトル      Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
 雑誌        Am J Hum Genet 103:1045-1052 (2018)
 DOI:10.1016/j.ajhg.2018.10.026
 PMID:31607425
 著者        Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE
 タイトル      Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
 雑誌        Am J Hum Genet 105:907-920 (2019)
 DOI:10.1016/j.ajhg.2019.09.013
 PMID:30968111
 著者        Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J
 タイトル      A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.
 雑誌        Brain 142:1242-1254 (2019)
 DOI:10.1093/brain/awz075","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02346"">H02346</a>","低身長を伴う知的発達障害
 下位グループ    低身長、顔貌異常、言語障害を伴う知的発達障害 (IDDSFAS)
 行動異常、小頭症および低身長を伴う知的発達障害 (IDDABS)
 低身長および行動異常を伴う知的発達障害 (IDDSSBA)
 低身長および多様な骨格異常を伴う知的発達障害 (IDDSSA)
 上位グループ    症候群性知的発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02463"">H02463</a>]",Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short stature. Several underlying genetic causes of these diseases have been identified.,,"(IDDSFAS) FBXL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26224"">26224</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10269"">K10269</a>]
 (IDDABS) PUS7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54517"">54517</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06176"">K06176</a>]
 (IDDSSBA) IQSEC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9922"">9922</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12495"">K12495</a>]
 (IDDSSA) WIPI2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26100"">26100</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17908"">K17908</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/606220"">606220</a> <a href=""https://www.omim.org/entry/618342"">618342</a> <a href=""https://www.omim.org/entry/618687"">618687</a> <a href=""https://www.omim.org/entry/618453"">618453</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30481285"">30481285</a>
 著者        Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
 タイトル      Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
 雑誌        Hum Mol Genet 28:972-979 (2019)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy406"">10.1093/hmg/ddy406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17463252"">17463252</a>
 著者        Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM
 タイトル      The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.
 雑誌        Science 316:897-900 (2007)
 DOI:<a href=""https://doi.org/10.1126/science.1141138"">10.1126/science.1141138</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30526862"">30526862</a>
 著者        de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S
 タイトル      Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
 雑誌        Am J Hum Genet 103:1045-1052 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.026"">10.1016/j.ajhg.2018.10.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31607425"">31607425</a>
 著者        Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE
 タイトル      Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
 雑誌        Am J Hum Genet 105:907-920 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.013"">10.1016/j.ajhg.2019.09.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30968111"">30968111</a>
 著者        Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J
 タイトル      A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.
 雑誌        Brain 142:1242-1254 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz075"">10.1093/brain/awz075</a>"
H02347,Thauvin-Robinet-Faivre 症候群,,,"Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, that is known to be implicated in the FGF signaling pathway.",先天奇形,,FIBP [HSA:9158],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 617107","PMID:27183861
 著者        Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L
 タイトル      A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
 雑誌        Am J Med Genet A 170:2111-8 (2016)
 DOI:10.1002/ajmg.a.37741
 PMID:26660953
 著者        Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Riviere JB, Faivre L
 タイトル      Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
 雑誌        Clin Genet 89:e1-4 (2016)
 DOI:10.1111/cge.12704","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02347"">H02347</a>",Thauvin-Robinet-Faivre 症候群,"Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, that is known to be implicated in the FGF signaling pathway.",,"FIBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9158"">9158</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/617107"">617107</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27183861"">27183861</a>
 著者        Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L
 タイトル      A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
 雑誌        Am J Med Genet A 170:2111-8 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37741"">10.1002/ajmg.a.37741</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26660953"">26660953</a>
 著者        Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Riviere JB, Faivre L
 タイトル      Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
 雑誌        Clin Genet 89:e1-4 (2016)
 DOI:<a href=""https://doi.org/10.1111/cge.12704"">10.1111/cge.12704</a>"
H02348,"象牙質異形成症
 上位グループ    遺伝性象牙質疾患 [DS:H00432]",,,"Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal dentin dysplasia.",消化器系疾患,,"(DTDP1) SMOC2 [HSA:64094] [KO:K24354]
 (DTDP2) DSPP [HSA:1834] [KO:K23573]",,,,,,"ICD-11: LA30.7
 ICD-10: K00.5
 MeSH: D003805
 OMIM: 125400 125420","PMID:23317772
 著者        Alfawaz S, Fong F, Plagnol V, Wong FS, Fearne J, Kelsell DP
 タイトル      Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
 雑誌        Arch Oral Biol 58:462-6 (2013)
 DOI:10.1016/j.archoralbio.2012.12.008
 PMID:23814198
 著者        Singh A, Gupta S, Yuwanati MB, Mhaske S
 タイトル      Dentin dysplasia type I.
 雑誌        BMJ Case Rep 2013:bcr2013009403 (2013)
 DOI:10.1136/bcr-2013-009403
 PMID:12354781
 著者        Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ
 タイトル      Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
 雑誌        Hum Mol Genet 11:2559-65 (2002)
 DOI:10.1093/hmg/11.21.2559","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02348"">H02348</a>","象牙質異形成症
 上位グループ    遺伝性象牙質疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00432"">H00432</a>]","Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal dentin dysplasia.",,"(DTDP1) SMOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64094"">64094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24354"">K24354</a>]
 (DTDP2) DSPP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1834"">1834</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23573"">K23573</a>]",,,,,,"ICD-11: LA30.7
 ICD-10: K00.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003805"">D003805</a>
 OMIM: <a href=""https://www.omim.org/entry/125400"">125400</a> <a href=""https://www.omim.org/entry/125420"">125420</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23317772"">23317772</a>
 著者        Alfawaz S, Fong F, Plagnol V, Wong FS, Fearne J, Kelsell DP
 タイトル      Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
 雑誌        Arch Oral Biol 58:462-6 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.archoralbio.2012.12.008"">10.1016/j.archoralbio.2012.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23814198"">23814198</a>
 著者        Singh A, Gupta S, Yuwanati MB, Mhaske S
 タイトル      Dentin dysplasia type I.
 雑誌        BMJ Case Rep 2013:bcr2013009403 (2013)
 DOI:<a href=""https://doi.org/10.1136/bcr-2013-009403"">10.1136/bcr-2013-009403</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12354781"">12354781</a>
 著者        Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ
 タイトル      Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
 雑誌        Hum Mol Genet 11:2559-65 (2002)
 DOI:<a href=""https://doi.org/10.1093/hmg/11.21.2559"">10.1093/hmg/11.21.2559</a>"
H02349,"歯牙軟骨形成不全症;
 Goldblatt 症候群
 下位グループ    難聴と糖尿病を伴う歯牙軟骨形成不全症 (ODCD2)",,,"Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, brachydactyly, joint laxity, and dental anomalies. It has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification.",先天奇形,,"(ODCD1) TRIP11 [HSA:9321] [KO:K23368]
 (ODCD2) MIA3 [HSA:375056] [KO:K23704]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 MeSH: C535792
 OMIM: 184260 619269","PMID:18241073
 著者        Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A
 タイトル      Clinical and radiographic delineation of odontochondrodysplasia.
 雑誌        Am J Med Genet A 146A:770-8 (2008)
 DOI:10.1002/ajmg.a.32214
 PMID:30728324 (ODCD1)
 著者        Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E
 タイトル      Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
 雑誌        JCI Insight 4:124701 (2019)
 DOI:10.1172/jci.insight.124701
 PMID:32101163 (ODCD2)
 著者        Lekszas C, Foresti O, Raote I, Liedtke D, Konig EM, Nanda I, Vona B, De Coster P, Cauwels R, Malhotra V, Haaf T
 タイトル      Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
 雑誌        Elife 9:e51319 (2020)
 DOI:10.7554/eLife.51319","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02349"">H02349</a>","歯牙軟骨形成不全症;
 Goldblatt 症候群
 下位グループ    難聴と糖尿病を伴う歯牙軟骨形成不全症 (ODCD2)","Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, brachydactyly, joint laxity, and dental anomalies. It has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification.",,"(ODCD1) TRIP11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9321"">9321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23368"">K23368</a>]
 (ODCD2) MIA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375056"">375056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23704"">K23704</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535792"">C535792</a>
 OMIM: <a href=""https://www.omim.org/entry/184260"">184260</a> <a href=""https://www.omim.org/entry/619269"">619269</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18241073"">18241073</a>
 著者        Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A
 タイトル      Clinical and radiographic delineation of odontochondrodysplasia.
 雑誌        Am J Med Genet A 146A:770-8 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32214"">10.1002/ajmg.a.32214</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30728324"">30728324</a> (ODCD1)
 著者        Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E
 タイトル      Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
 雑誌        JCI Insight 4:124701 (2019)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.124701"">10.1172/jci.insight.124701</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32101163"">32101163</a> (ODCD2)
 著者        Lekszas C, Foresti O, Raote I, Liedtke D, Konig EM, Nanda I, Vona B, De Coster P, Cauwels R, Malhotra V, Haaf T
 タイトル      Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
 雑誌        Elife 9:e51319 (2020)
 DOI:<a href=""https://doi.org/10.7554/eLife.51319"">10.7554/eLife.51319</a>"
H02350,遺伝性汎発性色素異常症,,,"Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported.",皮膚疾患,,"(DUH1) SASH1 [HSA:23328] [KO:K23705]
 (DUH3) ABCB6 [HSA:10058] [KO:K05661]",,,,,,"ICD-11: EC23.Y
 ICD-10: L81.8
 MeSH: C535730
 OMIM: 127500 615402","PMID:29956681
 著者        Zhong WL, Wang HJ, Lin ZM, Yang Y
 タイトル      Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
 雑誌        Indian J Dermatol Venereol Leprol 85:440 (2019)
 DOI:10.4103/ijdvl.IJDVL_360_17
 PMID:24224009
 著者        Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
 タイトル      Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
 雑誌        PLoS One 8:e79808 (2013)
 DOI:10.1371/journal.pone.0079808","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02350"">H02350</a>",遺伝性汎発性色素異常症,"Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported.",,"(DUH1) SASH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23328"">23328</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23705"">K23705</a>]
 (DUH3) ABCB6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10058"">10058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05661"">K05661</a>]",,,,,,"ICD-11: EC23.Y
 ICD-10: L81.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535730"">C535730</a>
 OMIM: <a href=""https://www.omim.org/entry/127500"">127500</a> <a href=""https://www.omim.org/entry/615402"">615402</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29956681"">29956681</a>
 著者        Zhong WL, Wang HJ, Lin ZM, Yang Y
 タイトル      Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
 雑誌        Indian J Dermatol Venereol Leprol 85:440 (2019)
 DOI:<a href=""https://doi.org/10.4103/ijdvl.IJDVL_360_17"">10.4103/ijdvl.IJDVL_360_17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24224009"">24224009</a>
 著者        Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
 タイトル      Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
 雑誌        PLoS One 8:e79808 (2013)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0079808"">10.1371/journal.pone.0079808</a>"
H02351,牛痘,,,"Human cowpox is a rare zoonotic infectious disease caused by cowpox virus (CPXV), an orthopoxvirus in the Poxviridae family of dsDNA viruses. CPXV can infect a broad range of hosts. Natural reservoir hosts of CPXV are wild rodents. Transmission to humans is through contact with infected animals, mostly domestic cats, which are predators of wild rodents.",感染症,,,Cowpox virus [GN:T40359],,,,,"ICD-11: 1E72
 MeSH: D015605","PMID:7999588
 著者        Baxby D, Bennett M, Getty B
 タイトル      Human cowpox 1969-93: a review based on 54 cases.
 雑誌        Br J Dermatol 131:598-607 (1994)
 DOI:10.1111/j.1365-2133.1994.tb04969.x
 PMID:26486622
 著者        Tack DM, Reynolds MG
 タイトル      Zoonotic Poxviruses Associated with Companion Animals.
 雑誌        Animals (Basel) 1:377-95 (2011)
 DOI:10.3390/ani1040377
 PMID:19402968
 著者        Ninove L, Domart Y, Vervel C, Voinot C, Salez N, Raoult D, Meyer H, Capek I, Zandotti C, Charrel RN
 タイトル      Cowpox virus transmission from pet rats to humans, France.
 雑誌        Emerg Infect Dis 15:781-4 (2009)
 DOI:10.3201/eid1505.090235
 PMID:30666929
 著者        Andreani J, Arnault JP, Bou Khalil JY, Abrahao J, Tomei E, Vial E, Le Bideau M, Raoult D, La Scola B
 タイトル      Atypical Cowpox Virus Infection in Smallpox-Vaccinated Patient, France.
 雑誌        Emerg Infect Dis 25:212-219 (2019)
 DOI:10.3201/eid2502.171433","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02351"">H02351</a>",牛痘,"Human cowpox is a rare zoonotic infectious disease caused by cowpox virus (CPXV), an orthopoxvirus in the Poxviridae family of dsDNA viruses. CPXV can infect a broad range of hosts. Natural reservoir hosts of CPXV are wild rodents. Transmission to humans is through contact with infected animals, mostly domestic cats, which are predators of wild rodents.",,,"Cowpox virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40359"">T40359</a>]",,,,,"ICD-11: 1E72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015605"">D015605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7999588"">7999588</a>
 著者        Baxby D, Bennett M, Getty B
 タイトル      Human cowpox 1969-93: a review based on 54 cases.
 雑誌        Br J Dermatol 131:598-607 (1994)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.1994.tb04969.x"">10.1111/j.1365-2133.1994.tb04969.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26486622"">26486622</a>
 著者        Tack DM, Reynolds MG
 タイトル      Zoonotic Poxviruses Associated with Companion Animals.
 雑誌        Animals (Basel) 1:377-95 (2011)
 DOI:<a href=""https://doi.org/10.3390/ani1040377"">10.3390/ani1040377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19402968"">19402968</a>
 著者        Ninove L, Domart Y, Vervel C, Voinot C, Salez N, Raoult D, Meyer H, Capek I, Zandotti C, Charrel RN
 タイトル      Cowpox virus transmission from pet rats to humans, France.
 雑誌        Emerg Infect Dis 15:781-4 (2009)
 DOI:<a href=""https://doi.org/10.3201/eid1505.090235"">10.3201/eid1505.090235</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30666929"">30666929</a>
 著者        Andreani J, Arnault JP, Bou Khalil JY, Abrahao J, Tomei E, Vial E, Le Bideau M, Raoult D, La Scola B
 タイトル      Atypical Cowpox Virus Infection in Smallpox-Vaccinated Patient, France.
 雑誌        Emerg Infect Dis 25:212-219 (2019)
 DOI:<a href=""https://doi.org/10.3201/eid2502.171433"">10.3201/eid2502.171433</a>"
H02352,ワクシニアウイルス感染症,,,"Vaccinia is an infectious disease caused by vaccinia virus, an orthopoxvirus in the Poxviridae family of dsDNA viruses. Vaccinia virus has been used as a smallpox vaccine. Several serious complications such as encephalitis, progressive vaccinia, eczema vaccinatum, and generalized vaccinia and disseminated vaccinia have been reported.",感染症,,,Vaccinia virus [GN:T40360],,,,"After smallpox was declared eradicated, the vaccination was discontinued, favoring a new contingent of susceptible individuals to orthopoxviruses.","ICD-11: 1E73
 MeSH: D014615","PMID:12742570
 著者        Bray M
 タイトル      Pathogenesis and potential antiviral therapy of complications of smallpox vaccination.
 雑誌        Antiviral Res 58:101-14 (2003)
 DOI:10.1016/s0166-3542(03)00008-1
 PMID:12911836
 著者        Aragon TJ, Ulrich S, Fernyak S, Rutherford GW
 タイトル      Risks of serious complications and death from smallpox vaccination: a systematic review of the United States experience, 1963-1968.
 雑誌        BMC Public Health 3:26 (2003)
 DOI:10.1186/1471-2458-3-26
 PMID:19828265
 著者        Essbauer S, Pfeffer M, Meyer H
 タイトル      Zoonotic poxviruses.
 雑誌        Vet Microbiol 140:229-36 (2010)
 DOI:10.1016/j.vetmic.2009.08.026
 PMID:29140260
 著者        Oliveira JS, Figueiredo PO, Costa GB, Assis FL, Drumond BP, da Fonseca FG, Nogueira ML, Kroon EG, Trindade GS
 タイトル      Vaccinia Virus Natural Infections in Brazil: The Good, the Bad, and the Ugly.
 雑誌        Viruses 9:E340 (2017)
 DOI:10.3390/v9110340
 PMID:21854314
 著者        Walsh SR, Dolin R
 タイトル      Vaccinia viruses: vaccines against smallpox and vectors against infectious diseases and tumors.
 雑誌        Expert Rev Vaccines 10:1221-40 (2011)
 DOI:10.1586/erv.11.79","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02352"">H02352</a>",ワクシニアウイルス感染症,"Vaccinia is an infectious disease caused by vaccinia virus, an orthopoxvirus in the Poxviridae family of dsDNA viruses. Vaccinia virus has been used as a smallpox vaccine. Several serious complications such as encephalitis, progressive vaccinia, eczema vaccinatum, and generalized vaccinia and disseminated vaccinia have been reported.",,,"Vaccinia virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40360"">T40360</a>]",,,,"After smallpox was declared eradicated, the vaccination was discontinued, favoring a new contingent of susceptible individuals to orthopoxviruses.","ICD-11: 1E73
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014615"">D014615</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12742570"">12742570</a>
 著者        Bray M
 タイトル      Pathogenesis and potential antiviral therapy of complications of smallpox vaccination.
 雑誌        Antiviral Res 58:101-14 (2003)
 DOI:<a href=""https://doi.org/10.1016/s0166-3542(03)00008-1"">10.1016/s0166-3542(03)00008-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12911836"">12911836</a>
 著者        Aragon TJ, Ulrich S, Fernyak S, Rutherford GW
 タイトル      Risks of serious complications and death from smallpox vaccination: a systematic review of the United States experience, 1963-1968.
 雑誌        BMC Public Health 3:26 (2003)
 DOI:<a href=""https://doi.org/10.1186/1471-2458-3-26"">10.1186/1471-2458-3-26</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19828265"">19828265</a>
 著者        Essbauer S, Pfeffer M, Meyer H
 タイトル      Zoonotic poxviruses.
 雑誌        Vet Microbiol 140:229-36 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.vetmic.2009.08.026"">10.1016/j.vetmic.2009.08.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29140260"">29140260</a>
 著者        Oliveira JS, Figueiredo PO, Costa GB, Assis FL, Drumond BP, da Fonseca FG, Nogueira ML, Kroon EG, Trindade GS
 タイトル      Vaccinia Virus Natural Infections in Brazil: The Good, the Bad, and the Ugly.
 雑誌        Viruses 9:E340 (2017)
 DOI:<a href=""https://doi.org/10.3390/v9110340"">10.3390/v9110340</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21854314"">21854314</a>
 著者        Walsh SR, Dolin R
 タイトル      Vaccinia viruses: vaccines against smallpox and vectors against infectious diseases and tumors.
 雑誌        Expert Rev Vaccines 10:1221-40 (2011)
 DOI:<a href=""https://doi.org/10.1586/erv.11.79"">10.1586/erv.11.79</a>"
H02353,"てんかんを伴う過剰驚愕症;
 早期乳児てんかん性脳症 8 型
 上位グループ    過剰驚愕症 [DS:H00769]",,,"Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing and adult brain.",神経系疾患,,ARHGEF9 [HSA:23229] [KO:K20686],,,,,,"ICD-11: LD90.Y
 ICD-10: G40.3
 MeSH: C564474
 OMIM: 300607","PMID:21633362
 著者        Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
 タイトル      Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
 雑誌        J Hum Genet 56:561-5 (2011)
 DOI:10.1038/jhg.2011.58
 PMID:17893116
 著者        Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH
 タイトル      ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
 雑誌        J Med Genet 45:100-5 (2008)
 DOI:10.1136/jmg.2007.052324","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02353"">H02353</a>","てんかんを伴う過剰驚愕症;
 早期乳児てんかん性脳症 8 型
 上位グループ    過剰驚愕症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00769"">H00769</a>]","Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00606]."">H00606].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:an"">an</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:X-linked"">X-linked</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mental"">mental</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:retardation"">retardation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sensory"">sensory</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hyperarousal,"">hyperarousal,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:caused"">caused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ARHGEF9."">ARHGEF9.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Collybistin,"">Collybistin,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encoded"">encoded</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ARHGEF9,"">ARHGEF9,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RhoGEF"">RhoGEF</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:family"">family</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:protein"">protein</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:highly"">highly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:expressed"">expressed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:developing"">developing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:adult"">adult</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:brain."">brain.</a>",,"ARHGEF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23229"">23229</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20686"">K20686</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564474"">C564474</a>
 OMIM: <a href=""https://www.omim.org/entry/300607"">300607</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21633362"">21633362</a>
 著者        Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
 タイトル      Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
 雑誌        J Hum Genet 56:561-5 (2011)
 DOI:<a href=""https://doi.org/10.1038/jhg.2011.58"">10.1038/jhg.2011.58</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17893116"">17893116</a>
 著者        Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH
 タイトル      ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
 雑誌        J Med Genet 45:100-5 (2008)
 DOI:<a href=""https://doi.org/10.1136/jmg.2007.052324"">10.1136/jmg.2007.052324</a>"
H02354,伝染性膿疱性皮膚炎,,,"Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with sheep and goats. Its viability on the ground and the ability to reinfect the host has contributed to the spread and maintenance of the infection in many species.",感染症,,,Orf virus [GN:T40126],,,,,"ICD-11: 1E75
 MeSH: D004474","PMID:26486622
 著者        Tack DM, Reynolds MG
 タイトル      Zoonotic Poxviruses Associated with Companion Animals.
 雑誌        Animals (Basel) 1:377-95 (2011)
 DOI:10.3390/ani1040377
 PMID:28480985
 著者        Bergqvist C, Kurban M, Abbas O
 タイトル      Orf virus infection.
 雑誌        Rev Med Virol 27:e1932 (2017)
 DOI:10.1002/rmv.1932","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02354"">H02354</a>",伝染性膿疱性皮膚炎,"Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with sheep and goats. Its viability on the ground and the ability to reinfect the host has contributed to the spread and maintenance of the infection in many species.",,,"Orf virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40126"">T40126</a>]",,,,,"ICD-11: 1E75
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004474"">D004474</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26486622"">26486622</a>
 著者        Tack DM, Reynolds MG
 タイトル      Zoonotic Poxviruses Associated with Companion Animals.
 雑誌        Animals (Basel) 1:377-95 (2011)
 DOI:<a href=""https://doi.org/10.3390/ani1040377"">10.3390/ani1040377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28480985"">28480985</a>
 著者        Bergqvist C, Kurban M, Abbas O
 タイトル      Orf virus infection.
 雑誌        Rev Med Virol 27:e1932 (2017)
 DOI:<a href=""https://doi.org/10.1002/rmv.1932"">10.1002/rmv.1932</a>"
H02355,難聴および近視,,,"Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.",神経系疾患,,SLITRK6 [HSA:84189] [KO:K25837],,,,,,"ICD-11: LD2H.Y
 ICD-10: H90.5
 MeSH: D054062
 OMIM: 221200","PMID:23543054
 著者        Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH
 タイトル      SLITRK6 mutations cause myopia and deafness in humans and mice.
 雑誌        J Clin Invest 123:2094-102 (2013)
 DOI:10.1172/JCI65853
 PMID:21298075
 著者        Matsumoto Y, Katayama K, Okamoto T, Yamada K, Takashima N, Nagao S, Aruga J
 タイトル      Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.
 雑誌        PLoS One 6:e16497 (2011)
 DOI:10.1371/journal.pone.0016497","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02355"">H02355</a>",難聴および近視,"Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.",,"SLITRK6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84189"">84189</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25837"">K25837</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: H90.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054062"">D054062</a>
 OMIM: <a href=""https://www.omim.org/entry/221200"">221200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23543054"">23543054</a>
 著者        Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH
 タイトル      SLITRK6 mutations cause myopia and deafness in humans and mice.
 雑誌        J Clin Invest 123:2094-102 (2013)
 DOI:<a href=""https://doi.org/10.1172/JCI65853"">10.1172/JCI65853</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21298075"">21298075</a>
 著者        Matsumoto Y, Katayama K, Okamoto T, Yamada K, Takashima N, Nagao S, Aruga J
 タイトル      Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.
 雑誌        PLoS One 6:e16497 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0016497"">10.1371/journal.pone.0016497</a>"
H02356,"PCWH 症候群;
 神経症状型ワールデンブルグ・シャー症候群",,,"PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development and maintenance of neural crest derivatives including Schwann cells, melanocytes, and enteric ganglion cells, and of oligodendrocytes, which are not derived from the neural crest. Accordingly, SOX10 gene mutations result in a wide spectrum of clinical phenotypes involving these cells. It is suggested that the complex neurological phenotypes in PCWH patients likely result from a combination of haploinsufficiency and additive dominant effect.",神経系疾患,,SOX10 [HSA:6663] [KO:K09270],,,,,,"ICD-11: LD2H.3
 ICD-10: E75.2
 MeSH: C563789
 OMIM: 609136","PMID:12447940
 著者        Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP
 タイトル      Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
 雑誌        Ann Neurol 52:836-42 (2002)
 DOI:10.1002/ana.10404
 PMID:11026454
 著者        Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
 タイトル      Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental ""neural crest syndrome"" related to a SOX10 mutation.
 雑誌        Ann Neurol 48:671-6 (2000)
 DOI:10.1002/1531-8249(200010)48:4<671::AID-ANA17&gt;3.0.CO;2-8
 PMID:25959061
 著者        Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Ohkubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T, Inoue K
 タイトル      Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.
 雑誌        Neurobiol Dis 80:1-14 (2015)
 DOI:10.1016/j.nbd.2015.04.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02356"">H02356</a>","PCWH 症候群;
 神経症状型ワールデンブルグ・シャー症候群","PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development and maintenance of neural crest derivatives including Schwann cells, melanocytes, and enteric ganglion cells, and of oligodendrocytes, which are not derived from the neural crest. Accordingly, SOX10 gene mutations result in a wide spectrum of clinical phenotypes involving these cells. It is suggested that the complex neurological phenotypes in PCWH patients likely result from a combination of haploinsufficiency and additive dominant effect.",,"SOX10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6663"">6663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09270"">K09270</a>]",,,,,,"ICD-11: LD2H.3
 ICD-10: E75.2
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563789"">C563789</a>
 OMIM: <a href=""https://www.omim.org/entry/609136"">609136</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12447940"">12447940</a>
 著者        Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP
 タイトル      Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
 雑誌        Ann Neurol 52:836-42 (2002)
 DOI:<a href=""https://doi.org/10.1002/ana.10404"">10.1002/ana.10404</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11026454"">11026454</a>
 著者        Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
 タイトル      Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental ""neural crest syndrome"" related to a SOX10 mutation.
 雑誌        Ann Neurol 48:671-6 (2000)
 DOI:<a href=""https://doi.org/10.1002/1531-8249(200010)48:"">10.1002/1531-8249(200010)48:</a><a href=""https://doi.org/4<671:"">4<671:</a><a href=""https://doi.org/:"">:</a><a href=""https://doi.org/AID-ANA17&gt;3.0.CO;2-8"">AID-ANA17&gt;3.0.CO;2-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25959061"">25959061</a>
 著者        Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Ohkubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T, Inoue K
 タイトル      Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.
 雑誌        Neurobiol Dis 80:1-14 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2015.04.013"">10.1016/j.nbd.2015.04.013</a>"
H02357,先天性髄鞘形成不全性ニューロパチー,,,"Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.",神経系疾患,,"(CHN1) EGR2 [HSA:1959] [KO:K12496]
 (CHN2) MPZ [HSA:4359] [KO:K06770]
 (CHN3) CNTNAP1 [HSA:8506] [KO:K07379]",,,,,,"ICD-11: 8C20.0
 ICD-10: G60.0
 MeSH: C535301
 OMIM: 605253 618184 618186","PMID:22522483
 著者        Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM
 タイトル      Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
 雑誌        Ann Neurol 71:719-23 (2012)
 DOI:10.1002/ana.23527
 PMID:12953275
 著者        Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR
 タイトル      Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
 雑誌        Ann Neurol 54:398-402 (2003)
 DOI:10.1002/ana.10681
 PMID:27668699
 著者        Mehta P, Kuspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB
 タイトル      Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
 雑誌        Muscle Nerve 55:761-765 (2017)
 DOI:10.1002/mus.25416","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02357"">H02357</a>",先天性髄鞘形成不全性ニューロパチー,"Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.",,"(CHN1) EGR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1959"">1959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12496"">K12496</a>]
 (CHN2) MPZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4359"">4359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06770"">K06770</a>]
 (CHN3) CNTNAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8506"">8506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07379"">K07379</a>]",,,,,,"ICD-11: 8C20.0
 ICD-10: G60.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535301"">C535301</a>
 OMIM: <a href=""https://www.omim.org/entry/605253"">605253</a> <a href=""https://www.omim.org/entry/618184"">618184</a> <a href=""https://www.omim.org/entry/618186"">618186</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22522483"">22522483</a>
 著者        Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM
 タイトル      Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
 雑誌        Ann Neurol 71:719-23 (2012)
 DOI:<a href=""https://doi.org/10.1002/ana.23527"">10.1002/ana.23527</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12953275"">12953275</a>
 著者        Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR
 タイトル      Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
 雑誌        Ann Neurol 54:398-402 (2003)
 DOI:<a href=""https://doi.org/10.1002/ana.10681"">10.1002/ana.10681</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27668699"">27668699</a>
 著者        Mehta P, Kuspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB
 タイトル      Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
 雑誌        Muscle Nerve 55:761-765 (2017)
 DOI:<a href=""https://doi.org/10.1002/mus.25416"">10.1002/mus.25416</a>"
H02358,"ミエリン欠損を伴う神経原性先天性多発性関節拘縮症
 上位グループ    先天性多発性関節拘縮症 [DS:H02299]",,,"Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.",神経系疾患,,LGI4 [HSA:163175] [KO:K25430],,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 MeSH: C536614
 OMIM: 617468","PMID:28318499
 著者        Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J
 タイトル      Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
 雑誌        Am J Hum Genet 100:659-665 (2017)
 DOI:10.1016/j.ajhg.2017.02.006
 PMID:31513940
 著者        Mishra S, Rai A, Srivastava P, Phadke SR
 タイトル      A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.
 雑誌        Eur J Med Genet 103756 (2019)
 DOI:10.1016/j.ejmg.2019.103756","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02358"">H02358</a>","ミエリン欠損を伴う神経原性先天性多発性関節拘縮症
 上位グループ    先天性多発性関節拘縮症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02299"">H02299</a>]","Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.",,"LGI4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:163175"">163175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25430"">K25430</a>]",,,,,,"ICD-11: LD26.41
 ICD-10: Q74.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536614"">C536614</a>
 OMIM: <a href=""https://www.omim.org/entry/617468"">617468</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28318499"">28318499</a>
 著者        Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J
 タイトル      Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
 雑誌        Am J Hum Genet 100:659-665 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.02.006"">10.1016/j.ajhg.2017.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31513940"">31513940</a>
 著者        Mishra S, Rai A, Srivastava P, Phadke SR
 タイトル      A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.
 雑誌        Eur J Med Genet 103756 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2019.103756"">10.1016/j.ejmg.2019.103756</a>"
H02359,"Dejerine-Sottas 病;
 シャルコー・マリー・トゥース病 3型
 上位グループ    シャルコー・マリー・トゥース病 [DS:H00264]",,,"Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction velocities and elevated CSF protein. Progression is severe and walking ability is lost early. Hypomyelination and classic onion bulbs are the pathological hallmarks. Mutations in MPZ, PMP22, EGR2, and PRX are the most common causes of DSD. In more than 50% of cases, a causative genetic mutation cannot be identified.",神経系疾患,,"MPZ [HSA:4359] [KO:K06770]
 EGR2 [HSA:1959] [KO:K12496]
 PMP22 [HSA:5376] [KO:K19289]
 PRX [HSA:57716]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: D015417
 OMIM: 145900","PMID:18698610
 著者        Al-Thihli K, Rudkin T, Carson N, Poulin C, Melancon S, Der Kaloustian VM
 タイトル      Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
 雑誌        Am J Med Genet A 146A:2412-6 (2008)
 DOI:10.1002/ajmg.a.32456
 PMID:21840889
 著者        Baets J, Deconinck T, De Vriendt E, Zimon M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzinska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P
 タイトル      Genetic spectrum of hereditary neuropathies with onset in the first year of life.
 雑誌        Brain 134:2664-76 (2011)
 DOI:10.1093/brain/awr184
 PMID:29670817
 著者        Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM
 タイトル      Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
 雑誌        Brain Behav 8:e00919 (2018)
 DOI:10.1002/brb3.919
 PMID:16645280
 著者        Pearce JM
 タイトル      Dejerine-Sottas disease (progressive hypertrophic polyneuropathy).
 雑誌        Eur Neurol 55:115-7 (2006)
 DOI:10.1159/000092790","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02359"">H02359</a>","Dejerine-Sottas 病;
 シャルコー・マリー・トゥース病 3型
 上位グループ    シャルコー・マリー・トゥース病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00264"">H00264</a>]","Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction velocities and elevated CSF protein. Progression is severe and walking ability is lost early. Hypomyelination and classic onion bulbs are the pathological hallmarks. Mutations in MPZ, PMP22, EGR2, and PRX are the most common causes of DSD. In more than 50% of cases, a causative genetic mutation cannot be identified.",,"MPZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4359"">4359</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06770"">K06770</a>]
 EGR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1959"">1959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12496"">K12496</a>]
 PMP22 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5376"">5376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19289"">K19289</a>]
 PRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57716"">57716</a>]",,,,,,"ICD-11: 8C20.Y
 ICD-10: G60.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015417"">D015417</a>
 OMIM: <a href=""https://www.omim.org/entry/145900"">145900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18698610"">18698610</a>
 著者        Al-Thihli K, Rudkin T, Carson N, Poulin C, Melancon S, Der Kaloustian VM
 タイトル      Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
 雑誌        Am J Med Genet A 146A:2412-6 (2008)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32456"">10.1002/ajmg.a.32456</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21840889"">21840889</a>
 著者        Baets J, Deconinck T, De Vriendt E, Zimon M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzinska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P
 タイトル      Genetic spectrum of hereditary neuropathies with onset in the first year of life.
 雑誌        Brain 134:2664-76 (2011)
 DOI:<a href=""https://doi.org/10.1093/brain/awr184"">10.1093/brain/awr184</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29670817"">29670817</a>
 著者        Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM
 タイトル      Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
 雑誌        Brain Behav 8:e00919 (2018)
 DOI:<a href=""https://doi.org/10.1002/brb3.919"">10.1002/brb3.919</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16645280"">16645280</a>
 著者        Pearce JM
 タイトル      Dejerine-Sottas disease (progressive hypertrophic polyneuropathy).
 雑誌        Eur Neurol 55:115-7 (2006)
 DOI:<a href=""https://doi.org/10.1159/000092790"">10.1159/000092790</a>"
H02360,小児発症てんかん性脳症,,,"Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity. Intellectual disability and/or autism spectrum disorders are common.",神経系疾患,,CHD2 [HSA:1106] [KO:K20091],,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 OMIM: 615369","PMID:29740950
 著者        Petersen AK, Streff H, Tokita M, Bostwick BL
 タイトル      The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
 雑誌        Am J Med Genet A 176:1667-1669 (2018)
 DOI:10.1002/ajmg.a.38835
 PMID:24207121
 著者        Suls A, Jaehn JA, Kecskes A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djemie T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Moller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbaumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I
 タイトル      De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
 雑誌        Am J Hum Genet 93:967-75 (2013)
 DOI:10.1016/j.ajhg.2013.09.017
 PMID:26677509
 著者        Carvill G, Helbig I, Mefford H
 タイトル      CHD2-Related Neurodevelopmental Disorders
 雑誌        GeneReviews (1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02360"">H02360</a>",小児発症てんかん性脳症,"Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity. Intellectual disability and/or autism spectrum disorders are common.",,"CHD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1106"">1106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20091"">K20091</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 OMIM: <a href=""https://www.omim.org/entry/615369"">615369</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29740950"">29740950</a>
 著者        Petersen AK, Streff H, Tokita M, Bostwick BL
 タイトル      The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
 雑誌        Am J Med Genet A 176:1667-1669 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38835"">10.1002/ajmg.a.38835</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24207121"">24207121</a>
 著者        Suls A, Jaehn JA, Kecskes A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djemie T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Moller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbaumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I
 タイトル      De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
 雑誌        Am J Hum Genet 93:967-75 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.09.017"">10.1016/j.ajhg.2013.09.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26677509"">26677509</a>
 著者        Carvill G, Helbig I, Mefford H
 タイトル      CHD2-Related Neurodevelopmental Disorders
 雑誌        GeneReviews (1993)"
H02361,"ミオクローヌス-脱力発作てんかん
 上位グループ    ミオクロニー脱力発作を伴うてんかん [DS:H01823]
 症候性全般てんかん [DS:H00577]",,,"Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for reuptake of GABA from the synapse.",神経系疾患,,SLC6A1 [HSA:6529] [KO:K05034],,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.4
 MeSH: D012640
 OMIM: 616421","PMID:25865495
 著者        Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC
 タイトル      Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
 雑誌        Am J Hum Genet 96:808-15 (2015)
 DOI:10.1016/j.ajhg.2015.02.016
 PMID:19966779
 著者        Cope DW, Di Giovanni G, Fyson SJ, Orban G, Errington AC, Lorincz ML, Gould TM, Carter DA, Crunelli V
 タイトル      Enhanced tonic GABAA inhibition in typical absence epilepsy.
 雑誌        Nat Med 15:1392-8 (2009)
 DOI:10.1038/nm.2058","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02361"">H02361</a>","ミオクローヌス-脱力発作てんかん
 上位グループ    ミオクロニー脱力発作を伴うてんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01823"">H01823</a>]
 症候性全般てんかん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00577"">H00577</a>]","Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for reuptake of GABA from the synapse.",,"SLC6A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6529"">6529</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05034"">K05034</a>]",,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012640"">D012640</a>
 OMIM: <a href=""https://www.omim.org/entry/616421"">616421</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25865495"">25865495</a>
 著者        Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC
 タイトル      Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
 雑誌        Am J Hum Genet 96:808-15 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.02.016"">10.1016/j.ajhg.2015.02.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19966779"">19966779</a>
 著者        Cope DW, Di Giovanni G, Fyson SJ, Orban G, Errington AC, Lorincz ML, Gould TM, Carter DA, Crunelli V
 タイトル      Enhanced tonic GABAA inhibition in typical absence epilepsy.
 雑誌        Nat Med 15:1392-8 (2009)
 DOI:<a href=""https://doi.org/10.1038/nm.2058"">10.1038/nm.2058</a>"
H02362,良性家族性乳児けいれん,,,"Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have been reported.",神経系疾患,,"(BFIS2) PRRT2 [HSA:112476] [KO:K23897]
 (BFIS3) SCN2A [HSA:6326] [KO:K04834]
 (BFIS5) SCN8A [HSA:6334] [KO:K04840]",,,,,,"ICD-11: 8A80.Y
 ICD-10: G40.3
 MeSH: D020936
 OMIM: 601764 605751 607745 617080","PMID:22243967
 著者        Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM
 タイトル      PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
 雑誌        Am J Hum Genet 90:152-60 (2012)
 DOI:10.1016/j.ajhg.2011.12.003
 PMID:15048894
 著者        Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE
 タイトル      Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
 雑誌        Ann Neurol 55:550-7 (2004)
 DOI:10.1002/ana.20029
 PMID:16417554
 著者        Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F
 タイトル      A novel SCN2A mutation in family with benign familial infantile seizures.
 雑誌        Epilepsia 47:218-20 (2006)
 DOI:10.1111/j.1528-1167.2006.00392.x
 PMID:26677014
 著者        Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG
 タイトル      Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
 雑誌        Ann Neurol 79:428-36 (2016)
 DOI:10.1002/ana.24580","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02362"">H02362</a>",良性家族性乳児けいれん,"Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have been reported.",,"(BFIS2) PRRT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112476"">112476</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23897"">K23897</a>]
 (BFIS3) SCN2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6326"">6326</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04834"">K04834</a>]
 (BFIS5) SCN8A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6334"">6334</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04840"">K04840</a>]",,,,,,"ICD-11: 8A80.Y
 ICD-10: G40.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020936"">D020936</a>
 OMIM: <a href=""https://www.omim.org/entry/601764"">601764</a> <a href=""https://www.omim.org/entry/605751"">605751</a> <a href=""https://www.omim.org/entry/607745"">607745</a> <a href=""https://www.omim.org/entry/617080"">617080</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22243967"">22243967</a>
 著者        Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM
 タイトル      PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
 雑誌        Am J Hum Genet 90:152-60 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.12.003"">10.1016/j.ajhg.2011.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15048894"">15048894</a>
 著者        Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE
 タイトル      Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
 雑誌        Ann Neurol 55:550-7 (2004)
 DOI:<a href=""https://doi.org/10.1002/ana.20029"">10.1002/ana.20029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16417554"">16417554</a>
 著者        Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F
 タイトル      A novel SCN2A mutation in family with benign familial infantile seizures.
 雑誌        Epilepsia 47:218-20 (2006)
 DOI:<a href=""https://doi.org/10.1111/j.1528-1167.2006.00392.x"">10.1111/j.1528-1167.2006.00392.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26677014"">26677014</a>
 著者        Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG
 タイトル      Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
 雑誌        Ann Neurol 79:428-36 (2016)
 DOI:<a href=""https://doi.org/10.1002/ana.24580"">10.1002/ana.24580</a>"
H02363,Ververi-Brady 症候群,,,"Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS.",先天奇形,,QRICH1 [HSA:54870] [KO:K24297],,,,,,"ICD-11: LD90.Y
 MeSH: D065886
 OMIM: 617982","PMID:30281152
 著者        Lui JC, Jee YH, Lee A, Yue S, Wagner J, Donnelly DE, Vogt KS, Baron J
 タイトル      QRICH1 mutations cause a chondrodysplasia with developmental delay.
 雑誌        Clin Genet 95:160-164 (2019)
 DOI:10.1111/cge.13457
 PMID:28692176
 著者        Ververi A, Splitt M, Dean JCS, Brady AF
 タイトル      Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
 雑誌        Clin Genet 93:286-292 (2018)
 DOI:10.1111/cge.13096","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02363"">H02363</a>",Ververi-Brady 症候群,"Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS.",,"QRICH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54870"">54870</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24297"">K24297</a>]",,,,,,"ICD-11: LD90.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D065886"">D065886</a>
 OMIM: <a href=""https://www.omim.org/entry/617982"">617982</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30281152"">30281152</a>
 著者        Lui JC, Jee YH, Lee A, Yue S, Wagner J, Donnelly DE, Vogt KS, Baron J
 タイトル      QRICH1 mutations cause a chondrodysplasia with developmental delay.
 雑誌        Clin Genet 95:160-164 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13457"">10.1111/cge.13457</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28692176"">28692176</a>
 著者        Ververi A, Splitt M, Dean JCS, Brady AF
 タイトル      Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
 雑誌        Clin Genet 93:286-292 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13096"">10.1111/cge.13096</a>"
H02364,心臓および脳の奇形症候群,,,"Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential component of nonsense-mediated decay (NMD) machinery, cause this disease.",先天奇形,,SMG9 [HSA:56006] [KO:K18735],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616920","PMID:27018474
 著者        Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS
 タイトル      Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
 雑誌        Am J Hum Genet 98:643-52 (2016)
 DOI:10.1016/j.ajhg.2016.02.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02364"">H02364</a>",心臓および脳の奇形症候群,"Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential component of nonsense-mediated decay (NMD) machinery, cause this disease.",,"SMG9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56006"">56006</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18735"">K18735</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616920"">616920</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27018474"">27018474</a>
 著者        Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS
 タイトル      Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
 雑誌        Am J Hum Genet 98:643-52 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.02.010"">10.1016/j.ajhg.2016.02.010</a>"
H02365,"Helsmoortel-van der Aa 症候群;
 常染色体優性遺伝性精神遅滞 28
 上位グループ    常染色体優性遺伝性知的発達障害 [DS:H00773]",,,"Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.",先天奇形,,ADNP [HSA:23394] [KO:K22591],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.0
 OMIM: 615873","PMID:24531329
 著者        Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N
 タイトル      A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
 雑誌        Nat Genet 46:380-4 (2014)
 DOI:10.1038/ng.2899
 PMID:25057125
 著者        Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM
 タイトル      Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
 雑誌        J Med Genet 51:587-9 (2014)
 DOI:10.1136/jmedgenet-2014-102444","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02365"">H02365</a>","Helsmoortel-van der Aa 症候群;
 常染色体優性遺伝性精神遅滞 28
 上位グループ    常染色体優性遺伝性知的発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00773"">H00773</a>]","Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.",,"ADNP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23394"">23394</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22591"">K22591</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/615873"">615873</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24531329"">24531329</a>
 著者        Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N
 タイトル      A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
 雑誌        Nat Genet 46:380-4 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2899"">10.1038/ng.2899</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25057125"">25057125</a>
 著者        Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM
 タイトル      Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
 雑誌        J Med Genet 51:587-9 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102444"">10.1136/jmedgenet-2014-102444</a>"
H02366,神経障害および前庭神経失調症候群を伴う小脳性運動失調症,,,"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy, and chronic cough. Biallelic expansion of an intronic repeat in RFC1 is a cause of CANVAS.",神経系疾患,,RFC1 [HSA:5981] [KO:K10754],,,,,,"ICD-11: LD20.Y
 ICD-10: G32.8
 MeSH: D013132
 OMIM: 614575","PMID:30926972
 著者        Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Zuchner S, Reilly MM, Houlden H
 タイトル      Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
 雑誌        Nat Genet 51:649-658 (2019)
 DOI:10.1038/s41588-019-0372-4
 PMID:14607788
 著者        Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD
 タイトル      Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.
 雑誌        Brain 127:280-93 (2004)
 DOI:10.1093/brain/awh030
 PMID:21950986
 著者        Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
 タイトル      Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.
 雑誌        Ann N Y Acad Sci 1233:139-47 (2011)
 DOI:10.1111/j.1749-6632.2011.06158.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02366"">H02366</a>",神経障害および前庭神経失調症候群を伴う小脳性運動失調症,"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy, and chronic cough. Biallelic expansion of an intronic repeat in RFC1 is a cause of CANVAS.",,"RFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5981"">5981</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10754"">K10754</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: G32.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D013132"">D013132</a>
 OMIM: <a href=""https://www.omim.org/entry/614575"">614575</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30926972"">30926972</a>
 著者        Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Zuchner S, Reilly MM, Houlden H
 タイトル      Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
 雑誌        Nat Genet 51:649-658 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41588-019-0372-4"">10.1038/s41588-019-0372-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14607788"">14607788</a>
 著者        Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD
 タイトル      Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.
 雑誌        Brain 127:280-93 (2004)
 DOI:<a href=""https://doi.org/10.1093/brain/awh030"">10.1093/brain/awh030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21950986"">21950986</a>
 著者        Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
 タイトル      Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.
 雑誌        Ann N Y Acad Sci 1233:139-47 (2011)
 DOI:<a href=""https://doi.org/10.1111/j.1749-6632.2011.06158.x"">10.1111/j.1749-6632.2011.06158.x</a>"
H02367,精神運動発達遅滞を伴う小児発症舞踏病,,,"Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated with COCPMR.",神経系疾患,,GPR88 [HSA:54112] [KO:K08422],,,,,,"ICD-11: 8A01.Y
 ICD-10: G25.5
 MeSH: D002819
 OMIM: 616939","PMID:27123486
 著者        Alkufri F, Shaag A, Abu-Libdeh B, Elpeleg O
 タイトル      Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.
 雑誌        Neurol Genet 2:e64 (2016)
 DOI:10.1212/NXG.0000000000000064
 PMID:23064379
 著者        Quintana A, Sanz E, Wang W, Storey GP, Guler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD
 タイトル      Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors.
 雑誌        Nat Neurosci 15:1547-55 (2012)
 DOI:10.1038/nn.3239","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02367"">H02367</a>",精神運動発達遅滞を伴う小児発症舞踏病,"Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated with COCPMR.",,"GPR88 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54112"">54112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08422"">K08422</a>]",,,,,,"ICD-11: 8A01.Y
 ICD-10: G25.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002819"">D002819</a>
 OMIM: <a href=""https://www.omim.org/entry/616939"">616939</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27123486"">27123486</a>
 著者        Alkufri F, Shaag A, Abu-Libdeh B, Elpeleg O
 タイトル      Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.
 雑誌        Neurol Genet 2:e64 (2016)
 DOI:<a href=""https://doi.org/10.1212/NXG.0000000000000064"">10.1212/NXG.0000000000000064</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23064379"">23064379</a>
 著者        Quintana A, Sanz E, Wang W, Storey GP, Guler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD
 タイトル      Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors.
 雑誌        Nat Neurosci 15:1547-55 (2012)
 DOI:<a href=""https://doi.org/10.1038/nn.3239"">10.1038/nn.3239</a>"
H02368,低身長・顔異形・薄毛を伴う成長遅滞,,,"Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies. It has been reported that DPH1 is responsible gene for DEDSSH.",先天奇形,,DPH1 [HSA:1801] [KO:K07561],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616901","PMID:26220823
 著者        Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM
 タイトル      Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
 雑誌        Hum Mutat 36:1015-9 (2015)
 DOI:10.1002/humu.22843","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02368"">H02368</a>",低身長・顔異形・薄毛を伴う成長遅滞,"Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies. It has been reported that DPH1 is responsible gene for DEDSSH.",,"DPH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1801"">1801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07561"">K07561</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616901"">616901</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26220823"">26220823</a>
 著者        Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM
 タイトル      Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
 雑誌        Hum Mutat 36:1015-9 (2015)
 DOI:<a href=""https://doi.org/10.1002/humu.22843"">10.1002/humu.22843</a>"
H02369,"IMAGE-I 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]
 IMAGE 症候群 [DS:H02319]",,,"IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It has been reported that mutations in POLE cause IMAGE-I. POLE encodes the catalytic subunit of DNA polymerase epsilon.",先天奇形,,POLE [HSA:5426] [KO:K02324],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: 618336","PMID:30503519
 著者        Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP
 タイトル      DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
 雑誌        Am J Hum Genet 103:1038-1044 (2018)
 DOI:10.1016/j.ajhg.2018.10.024
 PMID:16835919
 著者        Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R
 タイトル      Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
 雑誌        Am J Med Genet A 140:1778-84 (2006)
 DOI:10.1002/ajmg.a.31365","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02369"">H02369</a>","IMAGE-I 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]
 IMAGE 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02319"">H02319</a>]","IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It has been reported that mutations in POLE cause IMAGE-I. POLE encodes the catalytic subunit of DNA polymerase epsilon.",,"POLE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5426"">5426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02324"">K02324</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/618336"">618336</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30503519"">30503519</a>
 著者        Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP
 タイトル      DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
 雑誌        Am J Hum Genet 103:1038-1044 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.024"">10.1016/j.ajhg.2018.10.024</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16835919"">16835919</a>
 著者        Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R
 タイトル      Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
 雑誌        Am J Med Genet A 140:1778-84 (2006)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.31365"">10.1002/ajmg.a.31365</a>"
H02370,"FILS 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:H00094]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.",先天奇形,,POLE [HSA:5426] [KO:K02324],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: 615139","PMID:23230001
 著者        Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G
 タイトル      Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (""FILS syndrome"").
 雑誌        J Exp Med 209:2323-30 (2012)
 DOI:10.1084/jem.20121303
 PMID:25948378
 著者        Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
 タイトル      A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
 雑誌        BMC Med Genet 16:31 (2015)
 DOI:10.1186/s12881-015-0177-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02370"">H02370</a>","FILS 症候群
 上位グループ    DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.",,"POLE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5426"">5426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02324"">K02324</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/615139"">615139</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23230001"">23230001</a>
 著者        Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G
 タイトル      Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (""FILS syndrome"").
 雑誌        J Exp Med 209:2323-30 (2012)
 DOI:<a href=""https://doi.org/10.1084/jem.20121303"">10.1084/jem.20121303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25948378"">25948378</a>
 著者        Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
 タイトル      A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
 雑誌        BMC Med Genet 16:31 (2015)
 DOI:<a href=""https://doi.org/10.1186/s12881-015-0177-y"">10.1186/s12881-015-0177-y</a>"
H02371,"自閉症と言葉の遅れを伴う知的発達障害
 下位グループ    自閉症状、言葉の遅れおよび痙攣を伴う知的発達障害 (IDDALDS)
 言葉の遅れ、自閉症および顔異形を伴う知的発達障害 (IDDSADF)
 上位グループ    症候群性知的発達障害 [DS:H02463]",,,"Intellectual developmental disorder with autism and speech delay (IDDAS) is the TBR1-related autistic-spectrum-disorder. TBR1 encodes a neuron-specific transcription factor, that is highly expressed in the deep layers of the cortex.",精神及び行動の障害,,"(IDDAS) TBR1 [HSA:10716] [KO:K10174]
 (IDDALDS) TANC2 [HSA:26115]
 (IDDSADF) CNOT3 [HSA:4849] [KO:K12580]",,,,,,"ICD-11: 6A02.3
 ICD-10: F84.9
 MeSH: D000067877
 OMIM: 606053 618906 618672","PMID:30250039
 著者        den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE
 タイトル      Functional characterization of TBR1 variants in neurodevelopmental disorder.
 雑誌        Sci Rep 8:14279 (2018)
 DOI:10.1038/s41598-018-32053-6
 PMID:25232744
 著者        Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE
 タイトル      De novo TBR1 mutations in sporadic autism disrupt protein functions.
 雑誌        Nat Commun 5:4954 (2014)
 DOI:10.1038/ncomms5954
 PMID:29288087
 著者        McDermott JH, Study DDD, Clayton-Smith J, Briggs TA
 タイトル      The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
 雑誌        Eur J Med Genet 61:253-256 (2018)
 DOI:10.1016/j.ejmg.2017.12.009
 PMID:31616000
 著者        Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Buttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE
 タイトル      Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
 雑誌        Nat Commun 10:4679 (2019)
 DOI:10.1038/s41467-019-12435-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02371"">H02371</a>","自閉症と言葉の遅れを伴う知的発達障害
 下位グループ    自閉症状、言葉の遅れおよび痙攣を伴う知的発達障害 (IDDALDS)
 言葉の遅れ、自閉症および顔異形を伴う知的発達障害 (IDDSADF)
 上位グループ    症候群性知的発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02463"">H02463</a>]","Intellectual developmental disorder with autism and speech delay (IDDAS) is the TBR1-related autistic-spectrum-disorder. TBR1 encodes a neuron-specific transcription factor, that is highly expressed in the deep layers of the cortex.",,"(IDDAS) TBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10716"">10716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10174"">K10174</a>]
 (IDDALDS) TANC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26115"">26115</a>]
 (IDDSADF) CNOT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4849"">4849</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12580"">K12580</a>]",,,,,,"ICD-11: 6A02.3
 ICD-10: F84.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000067877"">D000067877</a>
 OMIM: <a href=""https://www.omim.org/entry/606053"">606053</a> <a href=""https://www.omim.org/entry/618906"">618906</a> <a href=""https://www.omim.org/entry/618672"">618672</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30250039"">30250039</a>
 著者        den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE
 タイトル      Functional characterization of TBR1 variants in neurodevelopmental disorder.
 雑誌        Sci Rep 8:14279 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41598-018-32053-6"">10.1038/s41598-018-32053-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25232744"">25232744</a>
 著者        Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE
 タイトル      De novo TBR1 mutations in sporadic autism disrupt protein functions.
 雑誌        Nat Commun 5:4954 (2014)
 DOI:<a href=""https://doi.org/10.1038/ncomms5954"">10.1038/ncomms5954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29288087"">29288087</a>
 著者        McDermott JH, Study DDD, Clayton-Smith J, Briggs TA
 タイトル      The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
 雑誌        Eur J Med Genet 61:253-256 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2017.12.009"">10.1016/j.ejmg.2017.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31616000"">31616000</a>
 著者        Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Buttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE
 タイトル      Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
 雑誌        Nat Commun 10:4679 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-12435-8"">10.1038/s41467-019-12435-8</a>"
H02372,シストイソスポーラ症,,,"Cystoisosporiasis is a human enteritis caused by Cystoisospora belli. Cystoisospora belli is an obligate intracellular protozoa in phylum Apicomplexa. The transmission is through ingestion of sporulated oocysts contaminating food or water. It can cause severe diarrhea in immunocompromised patients, with a high rate of recurrence and risk of dissemination.",感染症,,,Cystoisospora belli,,,,,"ICD-11: 1A33
 MeSH: D021865","PMID:31303182
 著者        Dubey JP, Almeria S
 タイトル      Cystoisospora belli infections in humans: the past 100 years.
 雑誌        Parasitology 146:1490-1527 (2019)
 DOI:10.1017/S0031182019000957
 著者        Meyers WM, Firpo A, Wear DJ (ed).
 タイトル      Topics on the pathology of Protozoan and Invasive Arthropod Diseases
 雑誌        Armed Forces Institute of Pathology, Washington, DC (2011)
 DOI:10.21236/ada545141","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02372"">H02372</a>",シストイソスポーラ症,"Cystoisosporiasis is a human enteritis caused by Cystoisospora belli. Cystoisospora belli is an obligate intracellular protozoa in phylum Apicomplexa. The transmission is through ingestion of sporulated oocysts contaminating food or water. It can cause severe diarrhea in immunocompromised patients, with a high rate of recurrence and risk of dissemination.",,,Cystoisospora belli,,,,,"ICD-11: 1A33
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D021865"">D021865</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31303182"">31303182</a>
 著者        Dubey JP, Almeria S
 タイトル      Cystoisospora belli infections in humans: the past 100 years.
 雑誌        Parasitology 146:1490-1527 (2019)
 DOI:<a href=""https://doi.org/10.1017/S0031182019000957"">10.1017/S0031182019000957</a>
 著者        Meyers WM, Firpo A, Wear DJ (ed).
 タイトル      Topics on the pathology of Protozoan and Invasive Arthropod Diseases
 雑誌        Armed Forces Institute of Pathology, Washington, DC (2011)
 DOI:<a href=""https://doi.org/10.21236/ada545141"">10.21236/ada545141</a>"
H02373,"サルコシスチス症;
 肉胞子虫症",,,"Sarcocystosis is an infectious disease caused by species of Sarcocystis, an intracellular protozoan parasite. Sarcocystis was first reported in 1843. Humans can serve as definitive hosts, with intestinal sarcocystosis for two species acquired from eating undercooked meat: Sarcocystis hominis, from beef, and Sarcocystis suihominis, from pork. Humans may also serve intermediate hosts for non-human Sarcocystis spp. after the accidental ingestion of oocysts. This ingestion leads to muscular sarcocystosis.",感染症,,,Sarcocystis,,,,"Sarcocystis requires two hosts to maintain its life cycle: an intermediate host, in which cysts (sarcocysts) containing infectious zoites infect the muscles, and a definitive host that ingests the cysts, becomes infected with intestinal-stage parasites, and excretes oocysts or sporocysts into the environment.","ICD-11: 1A34
 MeSH: D012523","PMID:25715644
 著者        Fayer R, Esposito DH, Dubey JP
 タイトル      Human infections with Sarcocystis species.
 雑誌        Clin Microbiol Rev 28:295-311 (2015)
 DOI:10.1128/CMR.00113-14
 著者        Meyers WM, Firpo A, Wear DJ (ed).
 タイトル      Topics on the pathology of Protozoan and Invasive Arthropod Diseases
 雑誌        Armed Forces Institute of Pathology, Washington, DC (2011)
 DOI:10.21236/ada545141
 著者        Ryan ET, Hill DR, Solomon T, Aronson NE, Endy TP (ed).
 タイトル      Hunter's Tropical Medicine and Emerging Infectious Diseases (Tenth Edition)
 雑誌        Elsevier (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02373"">H02373</a>","サルコシスチス症;
 肉胞子虫症","Sarcocystosis is an infectious disease caused by species of Sarcocystis, an intracellular protozoan parasite. Sarcocystis was first reported in 1843. Humans can serve as definitive hosts, with intestinal sarcocystosis for two species acquired from eating undercooked meat: Sarcocystis hominis, from beef, and Sarcocystis suihominis, from pork. Humans may also serve intermediate hosts for non-human Sarcocystis spp. after the accidental ingestion of oocysts. This ingestion leads to muscular sarcocystosis.",,,Sarcocystis,,,,"Sarcocystis requires two hosts to maintain its life cycle: an intermediate host, in which cysts (sarcocysts) containing infectious zoites infect the muscles, and a definitive host that ingests the cysts, becomes infected with intestinal-stage parasites, and excretes oocysts or sporocysts into the environment.","ICD-11: 1A34
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012523"">D012523</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25715644"">25715644</a>
 著者        Fayer R, Esposito DH, Dubey JP
 タイトル      Human infections with Sarcocystis species.
 雑誌        Clin Microbiol Rev 28:295-311 (2015)
 DOI:<a href=""https://doi.org/10.1128/CMR.00113-14"">10.1128/CMR.00113-14</a>
 著者        Meyers WM, Firpo A, Wear DJ (ed).
 タイトル      Topics on the pathology of Protozoan and Invasive Arthropod Diseases
 雑誌        Armed Forces Institute of Pathology, Washington, DC (2011)
 DOI:<a href=""https://doi.org/10.21236/ada545141"">10.21236/ada545141</a>
 著者        Ryan ET, Hill DR, Solomon T, Aronson NE, Endy TP (ed).
 タイトル      Hunter's Tropical Medicine and Emerging Infectious Diseases (Tenth Edition)
 雑誌        Elsevier (2020)"
H02374,ブラストシスティス症,,,"Blastocystosis is an infectious disease caused by Blastocystis sp., an anaerobic intestinal parasite of humans and a wide range of animals. Blastocystis sp. is the only stramenopiles known to cause infection in humans. It is possible to recognize the fecal-oral transmission, through ingestion of contaminated food and water, and zoonotic spreads.",感染症,,,Blastocystis,,,,"Nineteen subtypes of Blastocystis have been identified, of which nine (subtype 1-9) have been found in humans, subtype 3 being the most common.","ICD-11: 1A35
 MeSH: D016776","PMID:25165551
 著者        Wawrzyniak I, Poirier P, Viscogliosi E, Dionigia M, Texier C, Delbac F, Alaoui HE
 タイトル      Blastocystis, an unrecognized parasite: an overview of pathogenesis and diagnosis.
 雑誌        Ther Adv Infect Dis 1:167-78 (2013)
 DOI:10.1177/2049936113504754
 著者        Vielma JR.
 タイトル      Blastocystosis: Epidemiological, clinical, pathogenic, diagnostic, and therapeutic aspects.
 雑誌        Invest Clin 60(1):53-78 (2019)
 DOI:10.22209/IC.v60n1a06","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02374"">H02374</a>",ブラストシスティス症,"Blastocystosis is an infectious disease caused by Blastocystis sp., an anaerobic intestinal parasite of humans and a wide range of animals. Blastocystis sp. is the only stramenopiles known to cause infection in humans. It is possible to recognize the fecal-oral transmission, through ingestion of contaminated food and water, and zoonotic spreads.",,,Blastocystis,,,,"Nineteen subtypes of Blastocystis have been identified, of which nine (subtype 1-9) have been found in humans, subtype 3 being the most common.","ICD-11: 1A35
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016776"">D016776</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25165551"">25165551</a>
 著者        Wawrzyniak I, Poirier P, Viscogliosi E, Dionigia M, Texier C, Delbac F, Alaoui HE
 タイトル      Blastocystis, an unrecognized parasite: an overview of pathogenesis and diagnosis.
 雑誌        Ther Adv Infect Dis 1:167-78 (2013)
 DOI:<a href=""https://doi.org/10.1177/2049936113504754"">10.1177/2049936113504754</a>
 著者        Vielma JR.
 タイトル      Blastocystosis: Epidemiological, clinical, pathogenic, diagnostic, and therapeutic aspects.
 雑誌        Invest Clin 60(1):53-78 (2019)
 DOI:<a href=""https://doi.org/10.22209/IC.v60n1a06"">10.22209/IC.v60n1a06</a>"
H02375,心臓弁発生異常,,,"Cardiac valvular defect, developmental (CVDD) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDD has been reported.",先天奇形,,PLD1 [HSA:5337] [KO:K01115],,,,,,"ICD-11: LA89.Y
 ICD-10: Q23.8
 MeSH: C565882
 OMIM: 212093","PMID:27799408
 著者        Ta-Shma A, Zhang K, Salimova E, Zernecke A, Sieiro-Mosti D, Stegner D, Furtado M, Shaag A, Perles Z, Nieswandt B, Rein AJ, Rosenthal N, Neiman AM, Elpeleg O
 タイトル      Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
 雑誌        J Med Genet 54:278-286 (2017)
 DOI:10.1136/jmedgenet-2016-104259","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02375"">H02375</a>",心臓弁発生異常,"Cardiac valvular defect, developmental (CVDD) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDD has been reported.",,"PLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5337"">5337</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01115"">K01115</a>]",,,,,,"ICD-11: LA89.Y
 ICD-10: Q23.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565882"">C565882</a>
 OMIM: <a href=""https://www.omim.org/entry/212093"">212093</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27799408"">27799408</a>
 著者        Ta-Shma A, Zhang K, Salimova E, Zernecke A, Sieiro-Mosti D, Stegner D, Furtado M, Shaag A, Perles Z, Nieswandt B, Rein AJ, Rosenthal N, Neiman AM, Elpeleg O
 タイトル      Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
 雑誌        J Med Genet 54:278-286 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104259"">10.1136/jmedgenet-2016-104259</a>"
H02376,全般的発達遅滞・脳梁形成不全および顔異形症,,,"Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features. It may be accompanied by microcephaly, feeding problems, and variable facial features. Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 have been reported in patients.",先天奇形,,ZNF148 [HSA:7707] [KO:K24370],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 617250","PMID:27964749
 著者        Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG
 タイトル      Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
 雑誌        Genome Med 8:131 (2016)
 DOI:10.1186/s13073-016-0386-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02376"">H02376</a>",全般的発達遅滞・脳梁形成不全および顔異形症,"Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features. It may be accompanied by microcephaly, feeding problems, and variable facial features. Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 have been reported in patients.",,"ZNF148 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7707"">7707</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24370"">K24370</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/617250"">617250</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27964749"">27964749</a>
 著者        Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG
 タイトル      Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
 雑誌        Genome Med 8:131 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13073-016-0386-9"">10.1186/s13073-016-0386-9</a>"
H02377,ジストニアを伴う（または伴わない）白質ジストロフィーおよび後天性小頭症,,,"Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton.",神経系疾患,,PLEKHG2 [HSA:64857] [KO:K23859],,,,,,"ICD-11: 8A44.3
 ICD-10: G37.8
 OMIM: 616763","PMID:26573021
 著者        Edvardson S, Wang H, Dor T, Atawneh O, Yaacov B, Gartner J, Cinnamon Y, Chen S, Elpeleg O
 タイトル      Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
 雑誌        Neurogenetics 17:25-30 (2016)
 DOI:10.1007/s10048-015-0464-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02377"">H02377</a>",ジストニアを伴う（または伴わない）白質ジストロフィーおよび後天性小頭症,"Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton.",,"PLEKHG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64857"">64857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23859"">K23859</a>]",,,,,,"ICD-11: 8A44.3
 ICD-10: G37.8
 OMIM: <a href=""https://www.omim.org/entry/616763"">616763</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26573021"">26573021</a>
 著者        Edvardson S, Wang H, Dor T, Atawneh O, Yaacov B, Gartner J, Cinnamon Y, Chen S, Elpeleg O
 タイトル      Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
 雑誌        Neurogenetics 17:25-30 (2016)
 DOI:<a href=""https://doi.org/10.1007/s10048-015-0464-y"">10.1007/s10048-015-0464-y</a>"
H02378,筋緊張低下・運動失調および成長遅滞症候群,,,"Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation.",先天奇形,,EBF3 [HSA:253738] [KO:K09103],,,,,,"ICD-11: LD90.Y
 ICD-10: G71.9
 OMIM: 617330","PMID:28017372
 著者        Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV
 タイトル      A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
 雑誌        Am J Hum Genet 100:128-137 (2017)
 DOI:10.1016/j.ajhg.2016.11.018
 PMID:28017373
 著者        Harms FL, Girisha KM, Hardigan AA, Kortum F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bezieau S, Cogne B, Isidor B, Kury S, Lupski JR, Myers RM, Cooper GM, Kutsche K
 タイトル      Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
 雑誌        Am J Hum Genet 100:117-127 (2017)
 DOI:10.1016/j.ajhg.2016.11.012
 PMID:28017370
 著者        Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN, Williams J, Clouston P, Hagman J, Nemeth AH
 タイトル      De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
 雑誌        Am J Hum Genet 100:138-150 (2017)
 DOI:10.1016/j.ajhg.2016.11.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02378"">H02378</a>",筋緊張低下・運動失調および成長遅滞症候群,"Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation.",,"EBF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:253738"">253738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09103"">K09103</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: G71.9
 OMIM: <a href=""https://www.omim.org/entry/617330"">617330</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28017372"">28017372</a>
 著者        Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV
 タイトル      A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
 雑誌        Am J Hum Genet 100:128-137 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.018"">10.1016/j.ajhg.2016.11.018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28017373"">28017373</a>
 著者        Harms FL, Girisha KM, Hardigan AA, Kortum F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bezieau S, Cogne B, Isidor B, Kury S, Lupski JR, Myers RM, Cooper GM, Kutsche K
 タイトル      Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
 雑誌        Am J Hum Genet 100:117-127 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.012"">10.1016/j.ajhg.2016.11.012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28017370"">28017370</a>
 著者        Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN, Williams J, Clouston P, Hagman J, Nemeth AH
 タイトル      De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
 雑誌        Am J Hum Genet 100:138-150 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.020"">10.1016/j.ajhg.2016.11.020</a>"
H02379,リケッチア痘,,,"Rickettsialpox is an infectious disease caused by Rickettsia akari, an intracellular gram-negative bacteria, and transmitted by the house mouse mite, Liponyssoides sanguineus. It was initially described in 1946 in New York City and has been reported, mostly in urban environments in the United States, South Africa, Korea, and parts of Russia.",感染症,,,Rickettsia akari [GN:rak],,,,,"ICD-11: 1C32
 MeSH: D000073605","PMID:8727130
 著者        Heymann WR
 タイトル      Rickettsialpox.
 雑誌        Clin Dermatol 14:279-82 (1996)
 DOI:10.1016/0738-081x(96)00012-0
 PMID:15577753
 著者        Saini R, Pui JC, Burgin S
 タイトル      Rickettsialpox: report of three cases and a review.
 雑誌        J Am Acad Dermatol 51:S137-42 (2004)
 DOI:10.1016/j.jaad.2004.03.036","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02379"">H02379</a>",リケッチア痘,"Rickettsialpox is an infectious disease caused by Rickettsia akari, an intracellular gram-negative bacteria, and transmitted by the house mouse mite, Liponyssoides sanguineus. It was initially described in 1946 in New York City and has been reported, mostly in urban environments in the United States, South Africa, Korea, and parts of Russia.",,,"Rickettsia akari [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:rak"">rak</a>]",,,,,"ICD-11: 1C32
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000073605"">D000073605</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8727130"">8727130</a>
 著者        Heymann WR
 タイトル      Rickettsialpox.
 雑誌        Clin Dermatol 14:279-82 (1996)
 DOI:<a href=""https://doi.org/10.1016/0738-081x(96)00012-0"">10.1016/0738-081x(96)00012-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15577753"">15577753</a>
 著者        Saini R, Pui JC, Burgin S
 タイトル      Rickettsialpox: report of three cases and a review.
 雑誌        J Am Acad Dermatol 51:S137-42 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.jaad.2004.03.036"">10.1016/j.jaad.2004.03.036</a>"
H02380,"D-グリセリン酸尿症
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:H00265]",,,D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding D-glycerate kinase cause this disease.,先天性代謝異常症,,GLYCTK [HSA:132158] [KO:K11529],,,,,,"ICD-11: 5C50.7Y
 ICD-10: E74.8
 MeSH: C535767
 OMIM: 220120","PMID:2165585
 著者        Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
 タイトル      D(+)-glyceric aciduria: etiology and clinical consequences.
 雑誌        Pediatr Res 28:38-41 (1990)
 DOI:10.1203/00006450-199007000-00009
 PMID:20949620
 著者        Sass JO, Fischer K, Wang R, Christensen E, Scholl-Burgi S, Chang R, Kapelari K, Walter M
 タイトル      D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
 雑誌        Hum Mutat 31:1280-5 (2010)
 DOI:10.1002/humu.21375","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02380"">H02380</a>","D-グリセリン酸尿症
 上位グループ    遺伝性感覚性自律神経性ニューロパチー [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00265"">H00265</a>]",D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding D-glycerate kinase cause this disease.,,"GLYCTK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:132158"">132158</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11529"">K11529</a>]",,,,,,"ICD-11: 5C50.7Y
 ICD-10: E74.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535767"">C535767</a>
 OMIM: <a href=""https://www.omim.org/entry/220120"">220120</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2165585"">2165585</a>
 著者        Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
 タイトル      D(+)-glyceric aciduria: etiology and clinical consequences.
 雑誌        Pediatr Res 28:38-41 (1990)
 DOI:<a href=""https://doi.org/10.1203/00006450-199007000-00009"">10.1203/00006450-199007000-00009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20949620"">20949620</a>
 著者        Sass JO, Fischer K, Wang R, Christensen E, Scholl-Burgi S, Chang R, Kapelari K, Walter M
 タイトル      D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
 雑誌        Hum Mutat 31:1280-5 (2010)
 DOI:<a href=""https://doi.org/10.1002/humu.21375"">10.1002/humu.21375</a>"
H02381,口蓋裂・精神運動発達遅滞・顔異形症,,,"Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features, skeletal anomalies, and cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during development.",先天奇形,,KDM1A [HSA:23028] [KO:K11450],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 OMIM: 616728","PMID:26656649
 著者        Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ
 タイトル      Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
 雑誌        Genet Med 18:788-95 (2016)
 DOI:10.1038/gim.2015.161
 PMID:27094131
 著者        Pilotto S, Speranzini V, Marabelli C, Rusconi F, Toffolo E, Grillo B, Battaglioli E, Mattevi A
 タイトル      LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.
 雑誌        Hum Mol Genet 25:2578-2587 (2016)
 DOI:10.1093/hmg/ddw120
 PMID:24838796
 著者        Tunovic S, Barkovich J, Sherr EH, Slavotinek AM
 タイトル      De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
 雑誌        Am J Med Genet A 164A:1744-9 (2014)
 DOI:10.1002/ajmg.a.36450","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02381"">H02381</a>",口蓋裂・精神運動発達遅滞・顔異形症,"Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00570"">H00570</a>] but with distinctive facial features, skeletal anomalies, and cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during development.",,"KDM1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23028"">23028</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11450"">K11450</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/616728"">616728</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26656649"">26656649</a>
 著者        Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ
 タイトル      Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
 雑誌        Genet Med 18:788-95 (2016)
 DOI:<a href=""https://doi.org/10.1038/gim.2015.161"">10.1038/gim.2015.161</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27094131"">27094131</a>
 著者        Pilotto S, Speranzini V, Marabelli C, Rusconi F, Toffolo E, Grillo B, Battaglioli E, Mattevi A
 タイトル      LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.
 雑誌        Hum Mol Genet 25:2578-2587 (2016)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddw120"">10.1093/hmg/ddw120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24838796"">24838796</a>
 著者        Tunovic S, Barkovich J, Sherr EH, Slavotinek AM
 タイトル      De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
 雑誌        Am J Med Genet A 164A:1744-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36450"">10.1002/ajmg.a.36450</a>"
H02382,Bainbridge-Ropers 症候群,,,"Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties.",先天奇形,,ASXL3 [HSA:80816] [KO:K11471],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: 615485","PMID:23383720
 著者        Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH
 タイトル      De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
 雑誌        Genome Med 5:11 (2013)
 DOI:10.1186/gm415
 PMID:28100473
 著者        Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S
 タイトル      Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
 雑誌        J Med Genet 54:537-543 (2017)
 DOI:10.1136/jmedgenet-2016-104360","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02382"">H02382</a>",Bainbridge-Ropers 症候群,"Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties.",,"ASXL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80816"">80816</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 OMIM: <a href=""https://www.omim.org/entry/615485"">615485</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23383720"">23383720</a>
 著者        Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH
 タイトル      De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
 雑誌        Genome Med 5:11 (2013)
 DOI:<a href=""https://doi.org/10.1186/gm415"">10.1186/gm415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28100473"">28100473</a>
 著者        Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S
 タイトル      Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
 雑誌        J Med Genet 54:537-543 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104360"">10.1136/jmedgenet-2016-104360</a>"
H02383,顔面中部低形成・難聴・楕円赤血球症および腎石灰化症,,,"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).",先天奇形,,AMMECR1 [HSA:9949] [KO:K24611],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 300990","PMID:27811305
 著者        Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S
 タイトル      AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
 雑誌        J Med Genet 54:269-277 (2017)
 DOI:10.1136/jmedgenet-2016-104100
 PMID:28089922
 著者        Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
 タイトル      X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
 雑誌        Gene 606:47-52 (2017)
 DOI:10.1016/j.gene.2017.01.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02383"">H02383</a>",顔面中部低形成・難聴・楕円赤血球症および腎石灰化症,"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).",,"AMMECR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9949"">9949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24611"">K24611</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/300990"">300990</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27811305"">27811305</a>
 著者        Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S
 タイトル      AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
 雑誌        J Med Genet 54:269-277 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104100"">10.1136/jmedgenet-2016-104100</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28089922"">28089922</a>
 著者        Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
 タイトル      X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
 雑誌        Gene 606:47-52 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.gene.2017.01.001"">10.1016/j.gene.2017.01.001</a>"
H02384,"腹部肥満・メタボリック症候群;
 メタボリックシンドローム X",,,"Abdominal obesity-metabolic syndrome (AOMS) is also known as syndrome X or insulin resistance syndrome. Insulin resistance is a key abnormality associated with an atherogenic, prothrombotic, and inflammatory profile. The most prevalent form of this constellation of metabolic abnormalities is found in patients with abdominal obesity, especially with an excess of intra-abdominal or visceral adipose tissue. Recently, a few causative gene mutations have been reported.",内分泌代謝疾患,,"(AOMS3) DYRK1B [HSA:9149] [KO:K08825]
 (AOMS4) CELA2A [HSA:63036] [KO:K01346]",,,,,,"ICD-11: 5A44
 ICD-10: E66.8
 OMIM: 605552 615812 618620","PMID:24827035
 著者        Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A
 タイトル      A form of the metabolic syndrome associated with mutations in DYRK1B.
 雑誌        N Engl J Med 370:1909-1919 (2014)
 DOI:10.1056/NEJMoa1301824
 PMID:31358993
 著者        Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabo A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Toth M, Belfort-DeAguiar R, Kibbey RG, Mani A
 タイトル      CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
 雑誌        Nat Genet 51:1233-1243 (2019)
 DOI:10.1038/s41588-019-0470-3
 PMID:8476236
 著者        Reaven GM
 タイトル      Role of insulin resistance in human disease (syndrome X): an expanded definition.
 雑誌        Annu Rev Med 44:121-31 (1993)
 DOI:10.1146/annurev.me.44.020193.001005
 PMID:18356555
 著者        Despres JP, Lemieux I, Bergeron J, Pibarot P, Mathieu P, Larose E, Rodes-Cabau J, Bertrand OF, Poirier P
 タイトル      Abdominal obesity and the metabolic syndrome: contribution to global cardiometabolic risk.
 雑誌        Arterioscler Thromb Vasc Biol 28:1039-49 (2008)
 DOI:10.1161/ATVBAHA.107.159228","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02384"">H02384</a>","腹部肥満・メタボリック症候群;
 メタボリックシンドローム X","Abdominal obesity-metabolic syndrome (AOMS) is also known as syndrome X or insulin resistance syndrome. Insulin resistance is a key abnormality associated with an atherogenic, prothrombotic, and inflammatory profile. The most prevalent form of this constellation of metabolic abnormalities is found in patients with abdominal obesity, especially with an excess of intra-abdominal or visceral adipose tissue. Recently, a few causative gene mutations have been reported.",,"(AOMS3) DYRK1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9149"">9149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08825"">K08825</a>]
 (AOMS4) CELA2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:63036"">63036</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01346"">K01346</a>]",,,,,,"ICD-11: 5A44
 ICD-10: E66.8
 OMIM: <a href=""https://www.omim.org/entry/605552"">605552</a> <a href=""https://www.omim.org/entry/615812"">615812</a> <a href=""https://www.omim.org/entry/618620"">618620</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24827035"">24827035</a>
 著者        Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A
 タイトル      A form of the metabolic syndrome associated with mutations in DYRK1B.
 雑誌        N Engl J Med 370:1909-1919 (2014)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1301824"">10.1056/NEJMoa1301824</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31358993"">31358993</a>
 著者        Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabo A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Toth M, Belfort-DeAguiar R, Kibbey RG, Mani A
 タイトル      CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
 雑誌        Nat Genet 51:1233-1243 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41588-019-0470-3"">10.1038/s41588-019-0470-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8476236"">8476236</a>
 著者        Reaven GM
 タイトル      Role of insulin resistance in human disease (syndrome X): an expanded definition.
 雑誌        Annu Rev Med 44:121-31 (1993)
 DOI:<a href=""https://doi.org/10.1146/annurev.me.44.020193.001005"">10.1146/annurev.me.44.020193.001005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18356555"">18356555</a>
 著者        Despres JP, Lemieux I, Bergeron J, Pibarot P, Mathieu P, Larose E, Rodes-Cabau J, Bertrand OF, Poirier P
 タイトル      Abdominal obesity and the metabolic syndrome: contribution to global cardiometabolic risk.
 雑誌        Arterioscler Thromb Vasc Biol 28:1039-49 (2008)
 DOI:<a href=""https://doi.org/10.1161/ATVBAHA.107.159228"">10.1161/ATVBAHA.107.159228</a>"
H02385,真菌性菌腫,,,"Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions. Madurella mycetomatis, Madurella grisae, and Scedosporium apiospermum are the most common causative agents. The primary niche of these microorganisms is suggested to be the soil. The infection is thought to start subcutaneously after traumatic inoculation of these microorganisms.",感染症,,,"Madurella mycetomatis
 Madurella grisae
 Scedosporium apiospermum [GN:sapo]",,,,,"ICD-11: 1F29
 MeSH: D008271","PMID:26738840
 著者        Zijlstra EE, van de Sande WWJ, Welsh O, Mahgoub ES, Goodfellow M, Fahal AH
 タイトル      Mycetoma: a unique neglected tropical disease.
 雑誌        Lancet Infect Dis 16:100-112 (2016)
 DOI:10.1016/S1473-3099(15)00359-X
 PMID:22682186
 著者        Estrada R, Chavez-Lopez G, Estrada-Chavez G, Lopez-Martinez R, Welsh O
 タイトル      Eumycetoma.
 雑誌        Clin Dermatol 30:389-96 (2012)
 DOI:10.1016/j.clindermatol.2011.09.009
 PMID:15336224
 著者        Ahmed AO, van Leeuwen W, Fahal A, van de Sande W, Verbrugh H, van Belkum A
 タイトル      Mycetoma caused by Madurella mycetomatis: a neglected infectious burden.
 雑誌        Lancet Infect Dis 4:566-74 (2004)
 DOI:10.1016/S1473-3099(04)01131-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02385"">H02385</a>",真菌性菌腫,"Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01451])"">H01451])</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fungi"">fungi</a> (eumycetoma). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:It"">It</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:endemic"">endemic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tropical"">tropical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:subtropical"">subtropical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:regions."">regions.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Madurella"">Madurella</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mycetomatis,"">mycetomatis,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Madurella"">Madurella</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:grisae,"">grisae,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Scedosporium"">Scedosporium</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:apiospermum"">apiospermum</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:common"">common</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:causative"">causative</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:agents."">agents.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:primary"">primary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:niche"">niche</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:microorganisms"">microorganisms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:suggested"">suggested</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:be"">be</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:soil."">soil.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:infection"">infection</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:thought"">thought</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:start"">start</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:subcutaneously"">subcutaneously</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:after"">after</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:traumatic"">traumatic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:inoculation"">inoculation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:these"">these</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:microorganisms."">microorganisms.</a>",,,"Madurella mycetomatis
 Madurella grisae
 Scedosporium apiospermum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sapo"">sapo</a>]",,,,,"ICD-11: 1F29
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008271"">D008271</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26738840"">26738840</a>
 著者        Zijlstra EE, van de Sande WWJ, Welsh O, Mahgoub ES, Goodfellow M, Fahal AH
 タイトル      Mycetoma: a unique neglected tropical disease.
 雑誌        Lancet Infect Dis 16:100-112 (2016)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(15)00359-X"">10.1016/S1473-3099(15)00359-X</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22682186"">22682186</a>
 著者        Estrada R, Chavez-Lopez G, Estrada-Chavez G, Lopez-Martinez R, Welsh O
 タイトル      Eumycetoma.
 雑誌        Clin Dermatol 30:389-96 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.clindermatol.2011.09.009"">10.1016/j.clindermatol.2011.09.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15336224"">15336224</a>
 著者        Ahmed AO, van Leeuwen W, Fahal A, van de Sande W, Verbrugh H, van Belkum A
 タイトル      Mycetoma caused by Madurella mycetomatis: a neglected infectious burden.
 雑誌        Lancet Infect Dis 4:566-74 (2004)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(04)01131-4"">10.1016/S1473-3099(04)01131-4</a>"
H02386,黒色菌糸症,,,Phaeohyphomycosis is an infectious disease caused by many species of dematiaceous fungi. It is associated with a wide range of inflammatory responses. Over 100 species and 60 genera of dematiaceous fungi have been confirmed as agents of phaeohyphomycosis. They are commonly found in the soil and are generally distributed worldwide. Exposure is thought to be from inhalation or minor trauma.,感染症,,,Dematiaceous fungi,,,,,"ICD-11: 1F2F
 MeSH: D060446","PMID:19773651
 著者        Garnica M, Nucci M, Queiroz-Telles F
 タイトル      Difficult mycoses of the skin: advances in the epidemiology and management of eumycetoma, phaeohyphomycosis and chromoblastomycosis.
 雑誌        Curr Opin Infect Dis 22:559-63 (2009)
 DOI:10.1097/QCO.0b013e328332bbc5
 PMID:16088461
 著者        Revankar SG
 タイトル      Dematiaceous fungi.
 雑誌        Semin Respir Crit Care Med 25:183-9 (2004)
 DOI:10.1055/s-2004-824902
 PMID:11797173
 著者        Revankar SG, Patterson JE, Sutton DA, Pullen R, Rinaldi MG
 タイトル      Disseminated phaeohyphomycosis: review of an emerging mycosis.
 雑誌        Clin Infect Dis 34:467-76 (2002)
 DOI:10.1086/338636","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02386"">H02386</a>",黒色菌糸症,Phaeohyphomycosis is an infectious disease caused by many species of dematiaceous fungi. It is associated with a wide range of inflammatory responses. Over 100 species and 60 genera of dematiaceous fungi have been confirmed as agents of phaeohyphomycosis. They are commonly found in the soil and are generally distributed worldwide. Exposure is thought to be from inhalation or minor trauma.,,,Dematiaceous fungi,,,,,"ICD-11: 1F2F
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D060446"">D060446</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19773651"">19773651</a>
 著者        Garnica M, Nucci M, Queiroz-Telles F
 タイトル      Difficult mycoses of the skin: advances in the epidemiology and management of eumycetoma, phaeohyphomycosis and chromoblastomycosis.
 雑誌        Curr Opin Infect Dis 22:559-63 (2009)
 DOI:<a href=""https://doi.org/10.1097/QCO.0b013e328332bbc5"">10.1097/QCO.0b013e328332bbc5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16088461"">16088461</a>
 著者        Revankar SG
 タイトル      Dematiaceous fungi.
 雑誌        Semin Respir Crit Care Med 25:183-9 (2004)
 DOI:<a href=""https://doi.org/10.1055/s-2004-824902"">10.1055/s-2004-824902</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11797173"">11797173</a>
 著者        Revankar SG, Patterson JE, Sutton DA, Pullen R, Rinaldi MG
 タイトル      Disseminated phaeohyphomycosis: review of an emerging mycosis.
 雑誌        Clin Infect Dis 34:467-76 (2002)
 DOI:<a href=""https://doi.org/10.1086/338636"">10.1086/338636</a>"
H02387,Snijders Blok-Fisher 症候群,,,"Snijders Blok-Fisher syndrome (SNIBFIS)  is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.",精神及び行動の障害,,POU3F3 [HSA:5455] [KO:K09365],,,,,,"ICD-11: 6A0Y
 OMIM: 618604","PMID:31303265
 著者        Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Ounap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE
 タイトル      De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 105:403-412 (2019)
 DOI:10.1016/j.ajhg.2019.06.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02387"">H02387</a>",Snijders Blok-Fisher 症候群,"Snijders Blok-Fisher syndrome (SNIBFIS)  is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.",,"POU3F3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5455"">5455</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09365"">K09365</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/618604"">618604</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31303265"">31303265</a>
 著者        Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Ounap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE
 タイトル      De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 105:403-412 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.007"">10.1016/j.ajhg.2019.06.007</a>"
H02388,小児発症四肢および口腔顔面ジスキネジア,,,"Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum.",神経系疾患,,PDE10A [HSA:10846] [KO:K18438],,,,,,"ICD-11: MB47.4
 ICD-10: G24.9
 MeSH: D020820
 OMIM: 616921","PMID:27058446
 著者        Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schulke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ
 タイトル      Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
 雑誌        Am J Hum Genet 98:735-43 (2016)
 DOI:10.1016/j.ajhg.2016.03.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02388"">H02388</a>",小児発症四肢および口腔顔面ジスキネジア,"Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum.",,"PDE10A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10846"">10846</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18438"">K18438</a>]",,,,,,"ICD-11: MB47.4
 ICD-10: G24.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020820"">D020820</a>
 OMIM: <a href=""https://www.omim.org/entry/616921"">616921</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27058446"">27058446</a>
 著者        Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schulke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ
 タイトル      Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
 雑誌        Am J Hum Genet 98:735-43 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.015"">10.1016/j.ajhg.2016.03.015</a>"
H02389,顔面痙攣を伴う家族性ジスキネジア,,,"Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium.",神経系疾患,,ADCY5 [HSA:111] [KO:K08045],,,,,,"ICD-11: MB47.4
 ICD-10: G24.9
 MeSH: D020820
 OMIM: 606703","PMID:24700542
 著者        Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A
 タイトル      Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
 雑誌        Ann Neurol 75:542-9 (2014)
 DOI:10.1002/ana.24119
 PMID:22782511
 著者        Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH
 タイトル      Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
 雑誌        Arch Neurol 69:630-5 (2012)
 DOI:10.1001/archneurol.2012.54","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02389"">H02389</a>",顔面痙攣を伴う家族性ジスキネジア,"Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium.",,"ADCY5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:111"">111</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08045"">K08045</a>]",,,,,,"ICD-11: MB47.4
 ICD-10: G24.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020820"">D020820</a>
 OMIM: <a href=""https://www.omim.org/entry/606703"">606703</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24700542"">24700542</a>
 著者        Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A
 タイトル      Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
 雑誌        Ann Neurol 75:542-9 (2014)
 DOI:<a href=""https://doi.org/10.1002/ana.24119"">10.1002/ana.24119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22782511"">22782511</a>
 著者        Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH
 タイトル      Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
 雑誌        Arch Neurol 69:630-5 (2012)
 DOI:<a href=""https://doi.org/10.1001/archneurol.2012.54"">10.1001/archneurol.2012.54</a>"
H02390,常染色体劣性遺伝性神経性筋強直および軸索性ニューロパチー,,,"Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor that participates in several apoptotic pathways.",神経系疾患,,HINT1 [HSA:3094] [KO:K02503],,,,,,"ICD-11: 8C71.4
 ICD-10: G60.0
 MeSH: D020386
 OMIM: 137200","PMID:13636890
 著者        GAMSTORP I, WOHLFART G
 タイトル      A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration.
 雑誌        Acta Psychiatr Neurol Scand 34:181-94 (1959)
 DOI:10.1111/j.1600-0447.1959.tb07573.x
 PMID:22961002
 著者        Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A
 タイトル      Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
 雑誌        Nat Genet 44:1080-3 (2012)
 DOI:10.1038/ng.2406
 PMID:31088288
 著者        Cortes-Montero E, Rodriguez-Munoz M, Sanchez-Blazquez P, Garzon J
 タイトル      The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease.
 雑誌        Antioxid Redox Signal 31:503-520 (2019)
 DOI:10.1089/ars.2019.7724","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02390"">H02390</a>",常染色体劣性遺伝性神経性筋強直および軸索性ニューロパチー,"Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor that participates in several apoptotic pathways.",,"HINT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3094"">3094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02503"">K02503</a>]",,,,,,"ICD-11: 8C71.4
 ICD-10: G60.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020386"">D020386</a>
 OMIM: <a href=""https://www.omim.org/entry/137200"">137200</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/13636890"">13636890</a>
 著者        GAMSTORP I, WOHLFART G
 タイトル      A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration.
 雑誌        Acta Psychiatr Neurol Scand 34:181-94 (1959)
 DOI:<a href=""https://doi.org/10.1111/j.1600-0447.1959.tb07573.x"">10.1111/j.1600-0447.1959.tb07573.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22961002"">22961002</a>
 著者        Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A
 タイトル      Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
 雑誌        Nat Genet 44:1080-3 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2406"">10.1038/ng.2406</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31088288"">31088288</a>
 著者        Cortes-Montero E, Rodriguez-Munoz M, Sanchez-Blazquez P, Garzon J
 タイトル      The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease.
 雑誌        Antioxid Redox Signal 31:503-520 (2019)
 DOI:<a href=""https://doi.org/10.1089/ars.2019.7724"">10.1089/ars.2019.7724</a>"
H02391,小児発症多系統神経・内分泌・膵臓疾患,,,"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual disability, microcephaly, progressive ataxia, sensorineural deafness, peripheral neuropathy, exocrine pancreas insufficiency, and hypothyroidism. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling.",先天奇形,,PTRH2 [HSA:51651] [KO:K04794],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616263","PMID:25574476
 著者        Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrotter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hubner C, Kaindl AM
 タイトル      Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
 雑誌        Ann Clin Transl Neurol 1:1024-35 (2014)
 DOI:10.1002/acn3.149
 PMID:28328138
 著者        Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M
 タイトル      Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
 雑誌        Am J Med Genet A 173:1051-1055 (2017)
 DOI:10.1002/ajmg.a.38140","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02391"">H02391</a>",小児発症多系統神経・内分泌・膵臓疾患,"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual disability, microcephaly, progressive ataxia, sensorineural deafness, peripheral neuropathy, exocrine pancreas insufficiency, and hypothyroidism. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling.",,"PTRH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51651"">51651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04794"">K04794</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616263"">616263</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25574476"">25574476</a>
 著者        Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrotter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hubner C, Kaindl AM
 タイトル      Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
 雑誌        Ann Clin Transl Neurol 1:1024-35 (2014)
 DOI:<a href=""https://doi.org/10.1002/acn3.149"">10.1002/acn3.149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28328138"">28328138</a>
 著者        Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M
 タイトル      Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
 雑誌        Am J Med Genet A 173:1051-1055 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38140"">10.1002/ajmg.a.38140</a>"
H02392,スケドスポリウム症,,,"Scedosporiosis caused by the genus Scedosporium has emerged as a severe infection in both immunocompromised and immunocompetent individuals with a high incidence, ranging from localized to disseminated infections worldwide. Infectious agents are ubiquitous filamentous fungi present in soil, sewage, and polluted waters. Scedosporium apiospermum is the most common agent of scedosporiosis. Infection is acquired through trauma, inhalation and near-drowning.",感染症,,,"Scedosporium apiospermum [GN:sapo]
 Scedosporium spp.",,,ボリコナゾール [DR:D00578],"Eumycetoma [DS:H02385] is a chronic subcutaneous infection characterized by the production of grains, whereas scedosporiosis includes all other infections caused by Scedosporium apiospermum.",ICD-11: 1F2H,"PMID:18202441
 著者        Cortez KJ, Roilides E, Quiroz-Telles F, Meletiadis J, Antachopoulos C, Knudsen T, Buchanan W, Milanovich J, Sutton DA, Fothergill A, Rinaldi MG, Shea YR, Zaoutis T, Kottilil S, Walsh TJ
 タイトル      Infections caused by Scedosporium spp.
 雑誌        Clin Microbiol Rev 21:157-97 (2008)
 DOI:10.1128/CMR.00039-07
 PMID:29567285
 著者        Luplertlop N
 タイトル      Pseudallescheria/Scedosporium complex species: From saprobic to pathogenic fungus.
 雑誌        J Mycol Med 28:249-256 (2018)
 DOI:10.1016/j.mycmed.2018.02.015
 PMID:17149961
 著者        Jayamohan Y, Ribes JA
 タイトル      Pseudallescheriasis: a summary of patients from 1980-2003 in a tertiary care center.
 雑誌        Arch Pathol Lab Med 130:1843-6 (2006)
 DOI:10.1043/1543-2165(2006)130[1843:PASOPF]2.0.CO;2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02392"">H02392</a>",スケドスポリウム症,"Scedosporiosis caused by the genus Scedosporium has emerged as a severe infection in both immunocompromised and immunocompetent individuals with a high incidence, ranging from localized to disseminated infections worldwide. Infectious agents are ubiquitous filamentous fungi present in soil, sewage, and polluted waters. Scedosporium apiospermum is the most common agent of scedosporiosis. Infection is acquired through trauma, inhalation and near-drowning.",,,"Scedosporium apiospermum [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:sapo"">sapo</a>]
 Scedosporium spp.",,,"ボリコナゾール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00578"">D00578</a>]","Eumycetoma [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02385"">H02385</a>] is a chronic subcutaneous infection characterized by the production of grains, whereas scedosporiosis includes all other infections caused by Scedosporium apiospermum.",ICD-11: 1F2H,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18202441"">18202441</a>
 著者        Cortez KJ, Roilides E, Quiroz-Telles F, Meletiadis J, Antachopoulos C, Knudsen T, Buchanan W, Milanovich J, Sutton DA, Fothergill A, Rinaldi MG, Shea YR, Zaoutis T, Kottilil S, Walsh TJ
 タイトル      Infections caused by Scedosporium spp.
 雑誌        Clin Microbiol Rev 21:157-97 (2008)
 DOI:<a href=""https://doi.org/10.1128/CMR.00039-07"">10.1128/CMR.00039-07</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29567285"">29567285</a>
 著者        Luplertlop N
 タイトル      Pseudallescheria/Scedosporium complex species: From saprobic to pathogenic fungus.
 雑誌        J Mycol Med 28:249-256 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.mycmed.2018.02.015"">10.1016/j.mycmed.2018.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17149961"">17149961</a>
 著者        Jayamohan Y, Ribes JA
 タイトル      Pseudallescheriasis: a summary of patients from 1980-2003 in a tertiary care center.
 雑誌        Arch Pathol Lab Med 130:1843-6 (2006)
 DOI:<a href=""https://doi.org/10.1043/1543-2165(2006)130[1843:"">10.1043/1543-2165(2006)130[1843:</a><a href=""https://doi.org/PASOPF]2.0.CO;2"">PASOPF]2.0.CO;2</a>"
H02393,"タラロマイセス症;
 ペニシリウム症",,,"Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised residents and travellers in southeast Asia, southern China, and northeastern India. It is a major cause of death in patients with advanced HIV infection in these areas. Infections probably occur through inhalation of T. marneffei conidia.",感染症,,,Talaromyces marneffei [GN:tmf],,,,,ICD-11: 1F2K,"PMID:31811603
 著者        Cao C, Xi L, Chaturvedi V
 タイトル      Talaromycosis (Penicilliosis) Due to Talaromyces (Penicillium) marneffei: Insights into the Clinical Trends of a Major Fungal Disease 60 Years After the Discovery of the Pathogen.
 雑誌        Mycopathologia 184:709-720 (2019)
 DOI:10.1007/s11046-019-00410-2
 PMID:28774701
 著者        Limper AH, Adenis A, Le T, Harrison TS
 タイトル      Fungal infections in HIV/AIDS.
 雑誌        Lancet Infect Dis 17:e334-e343 (2017)
 DOI:10.1016/S1473-3099(17)30303-1
 著者        Ryan ET, Hill DR, Solomon T, Aronson NE, Endy TP (ed).
 タイトル      Hunter's Tropical Medicine and Emerging Infectious Diseases (Tenth Edition)
 雑誌        Elsevier (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02393"">H02393</a>","タラロマイセス症;
 ペニシリウム症","Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised residents and travellers in southeast Asia, southern China, and northeastern India. It is a major cause of death in patients with advanced HIV infection in these areas. Infections probably occur through inhalation of T. marneffei conidia.",,,"Talaromyces marneffei [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tmf"">tmf</a>]",,,,,ICD-11: 1F2K,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31811603"">31811603</a>
 著者        Cao C, Xi L, Chaturvedi V
 タイトル      Talaromycosis (Penicilliosis) Due to Talaromyces (Penicillium) marneffei: Insights into the Clinical Trends of a Major Fungal Disease 60 Years After the Discovery of the Pathogen.
 雑誌        Mycopathologia 184:709-720 (2019)
 DOI:<a href=""https://doi.org/10.1007/s11046-019-00410-2"">10.1007/s11046-019-00410-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28774701"">28774701</a>
 著者        Limper AH, Adenis A, Le T, Harrison TS
 タイトル      Fungal infections in HIV/AIDS.
 雑誌        Lancet Infect Dis 17:e334-e343 (2017)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(17)30303-1"">10.1016/S1473-3099(17)30303-1</a>
 著者        Ryan ET, Hill DR, Solomon T, Aronson NE, Endy TP (ed).
 タイトル      Hunter's Tropical Medicine and Emerging Infectious Diseases (Tenth Edition)
 雑誌        Elsevier (2020)"
H02394,口蓋裂・心臓欠陥および精神遅滞,,,"Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has been reported that deletions in MEIS2 can cause this disease. MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development.",先天奇形,,MEIS2 [HSA:4212] [KO:K16670],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 OMIM: 600987","PMID:25712757
 著者        Louw JJ, Corveleyn A, Jia Y, Hens G, Gewillig M, Devriendt K
 タイトル      MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
 雑誌        Am J Med Genet A 167A:1142-6 (2015)
 DOI:10.1002/ajmg.a.36989
 PMID:24678003
 著者        Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rodningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G
 タイトル      Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
 雑誌        Am J Med Genet A 164A:1622-6 (2014)
 DOI:10.1002/ajmg.a.36498
 PMID:30055086
 著者        Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J
 タイトル      De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
 雑誌        Am J Med Genet A 176:1845-1851 (2018)
 DOI:10.1002/ajmg.a.40368","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02394"">H02394</a>",口蓋裂・心臓欠陥および精神遅滞,"Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has been reported that deletions in MEIS2 can cause this disease. MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development.",,"MEIS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4212"">4212</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16670"">K16670</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/600987"">600987</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25712757"">25712757</a>
 著者        Louw JJ, Corveleyn A, Jia Y, Hens G, Gewillig M, Devriendt K
 タイトル      MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
 雑誌        Am J Med Genet A 167A:1142-6 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36989"">10.1002/ajmg.a.36989</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24678003"">24678003</a>
 著者        Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rodningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G
 タイトル      Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
 雑誌        Am J Med Genet A 164A:1622-6 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36498"">10.1002/ajmg.a.36498</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30055086"">30055086</a>
 著者        Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J
 タイトル      De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
 雑誌        Am J Med Genet A 176:1845-1851 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.40368"">10.1002/ajmg.a.40368</a>"
H02395,骨脆弱性を伴う頭蓋冠ドーナツ病変,,,"Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, doughnut-shaped lesions in the cranial bones. Novel heterozygous pathogenic variants in the sphingomyelin synthase 2 gene (SGMS2) have been identified.",筋骨格疾患,,SGMS2 [HSA:166929] [KO:K04714],,,,,,"ICD-11: LD24.KY
 ICD-10: M85.8
 MeSH: C565089
 OMIM: 126550","PMID:19839042
 著者        Jaakkola E, Laine CM, Mayranpaa MK, Falck A, Ignatius J, Makitie O
 タイトル      Calvarial doughnut lesions and osteoporosis: a new three-generation family and review.
 雑誌        Am J Med Genet A 149A:2371-7 (2009)
 DOI:10.1002/ajmg.a.33040
 PMID:30779713
 著者        Pekkinen M, Terhal PA, Botto LD, Henning P, Makitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Makitie O
 タイトル      Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
 雑誌        JCI Insight 4:126180 (2019)
 DOI:10.1172/jci.insight.126180","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02395"">H02395</a>",骨脆弱性を伴う頭蓋冠ドーナツ病変,"Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, doughnut-shaped lesions in the cranial bones. Novel heterozygous pathogenic variants in the sphingomyelin synthase 2 gene (SGMS2) have been identified.",,"SGMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:166929"">166929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04714"">K04714</a>]",,,,,,"ICD-11: LD24.KY
 ICD-10: M85.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565089"">C565089</a>
 OMIM: <a href=""https://www.omim.org/entry/126550"">126550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19839042"">19839042</a>
 著者        Jaakkola E, Laine CM, Mayranpaa MK, Falck A, Ignatius J, Makitie O
 タイトル      Calvarial doughnut lesions and osteoporosis: a new three-generation family and review.
 雑誌        Am J Med Genet A 149A:2371-7 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.33040"">10.1002/ajmg.a.33040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30779713"">30779713</a>
 著者        Pekkinen M, Terhal PA, Botto LD, Henning P, Makitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Makitie O
 タイトル      Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
 雑誌        JCI Insight 4:126180 (2019)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.126180"">10.1172/jci.insight.126180</a>"
H02396,顔異形と小脳性運動失調を伴う脳梁無形成,,,"Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia of the vermis and cerebellum. This disease is associated with mutations in FRMD4A, that is involved in cell structure, transport and signaling.",先天奇形,,FRMD4A [HSA:55691] [KO:K23970],,,,,,"ICD-11: LD20.Y
 OMIM: 616819","PMID:25388005
 著者        Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS
 タイトル      A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
 雑誌        Eur J Hum Genet 23:1729-34 (2015)
 DOI:10.1038/ejhg.2014.241","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02396"">H02396</a>",顔異形と小脳性運動失調を伴う脳梁無形成,"Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia of the vermis and cerebellum. This disease is associated with mutations in FRMD4A, that is involved in cell structure, transport and signaling.",,"FRMD4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55691"">55691</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23970"">K23970</a>]",,,,,,"ICD-11: LD20.Y
 OMIM: <a href=""https://www.omim.org/entry/616819"">616819</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25388005"">25388005</a>
 著者        Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS
 タイトル      A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
 雑誌        Eur J Hum Genet 23:1729-34 (2015)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2014.241"">10.1038/ejhg.2014.241</a>"
H02397,"運動異常や筋緊張低下を伴う神経発達障害
 下位グループ    運動異常、歩行異常および自閉症状を伴う神経発達障害 (NEDMAGA)
 行動異常、失語症および筋緊張低下を伴う神経発達障害 (NEDBASH)
 不随意運動および脳波の異常を伴う神経発達障害 (NEDIMAE)
 筋緊張低下、多動性運動を含む自閉症状を伴う神経発達障害 (NEDHAHM)
 筋緊張低下および様々な知能・行動異常を伴う神経発達障害 (NEDHIB)
 筋緊張低下と顔異形を伴う神経発達障害 (NEDHYDF)
 多動性運動および痙攣発作を伴う神経発達障害 (NDHMSR)
 言語障害と行動異常を伴う神経発達障害 (NEDLIB)
 痙攣発作および歩行障害を伴う神経発達障害 (NEDSGA)
 痙攣発作、筋緊張低下および脳の異常を伴う神経発達障害 (NEDSHBA)
 筋緊張低下、新生児呼吸障害および体温調節障害を伴う神経発達障害 (NEDHRIT)
 筋緊張低下、痙攣発作および失語症を伴う神経発達障害 (NDHSAL)
 筋緊張低下と顔異形および脳の異常を伴う神経発達障害 (NEDHFBA)
 脳の異常と筋緊張低下を伴う神経発達障害 (NEDHYBA)
 顔異形、発話障害および筋緊張低下を伴う神経発達障害 (NEDDISH)
 上位グループ    症候群性神経発達障害 [DS:H02459]",,,Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or hypotonia. Several underlying genetic causes of these diseases have been identified.,精神及び行動の障害,,"(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704]
 (NEDBASH) NTNG2 [HSA:84628] [KO:K16359]
 (NEDIMAE) SYT1 [HSA:6857] [KO:K15290]
 (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504]
 (NEDHIB) POLR2A [HSA:5430] [KO:K03006]
 (NEDHYDF) GNB2 [HSA:2783] [KO:K04537]
 (NDHMSR) GRIN1 [HSA:2902] [KO:K05208]
 (NEDLIB) GRIA2 [HSA:2891] [KO:K05198]
 (NEDSGA) GRIA4 [HSA:2893] [KO:K05200]
 (NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
 (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768]
 (NDHSAL) HECW2 [HSA:57520] [KO:K12168]
 (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562]
 (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012]
 (NEDDISH) MADD [HSA:8567]",,,,,,"ICD-11: 6A0Y
 OMIM: 617865 618718 618218 618760 618603 619503 617820 618917 617864 618922 618797 617268 619383 619512 619005","PMID:29198722
 著者        Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschke P, Garrigue A, de Saint Basile G, Kivuva E, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J
 タイトル      A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
 雑誌        Am J Hum Genet 101:995-1005 (2017)
 DOI:10.1016/j.ajhg.2017.10.009
 PMID:28433741
 著者        Tischfield DJ, Saraswat DK, Furash A, Fowler SC, Fuccillo MV, Anderson SA
 タイトル      Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.
 雑誌        Neurobiol Dis 103:174-183 (2017)
 DOI:10.1016/j.nbd.2017.04.013
 PMID:31668703
 著者        Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R
 タイトル      Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 105:1048-1056 (2019)
 DOI:10.1016/j.ajhg.2019.09.025
 PMID:30107533
 著者        Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL
 タイトル      SYT1-associated neurodevelopmental disorder: a case series.
 雑誌        Brain 141:2576-2591 (2018)
 DOI:10.1093/brain/awy209
 PMID:30929742
 著者        Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H
 タイトル      Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
 雑誌        Am J Hum Genet 104:721-730 (2019)
 DOI:10.1016/j.ajhg.2019.02.016
 PMID:31353023
 著者        Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
 タイトル      De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
 雑誌        Am J Hum Genet 105:283-301 (2019)
 DOI:10.1016/j.ajhg.2019.06.016
 PMID:31698099
 著者        Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H
 タイトル      Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
 雑誌        Eur J Med Genet 63:103804 (2020)
 DOI:10.1016/j.ejmg.2019.103804
 PMID:28389307
 著者        Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R
 タイトル      De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
 雑誌        Eur J Med Genet 60:317-320 (2017)
 DOI:10.1016/j.ejmg.2017.04.001
 PMID:29220673
 著者        Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R
 タイトル      De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
 雑誌        Am J Hum Genet 101:1013-1020 (2017)
 DOI:10.1016/j.ajhg.2017.11.004
 PMID:32286009
 著者        Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR
 タイトル      Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
 雑誌        Ann Clin Transl Neurol 7:610-627 (2020)
 DOI:10.1002/acn3.51003
 PMID:32004447
 著者        Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F
 タイトル      Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
 雑誌        Am J Hum Genet 106:246-255 (2020)
 DOI:10.1016/j.ajhg.2020.01.002
 PMID:27389779
 著者        Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK
 タイトル      De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
 雑誌        J Med Genet 54:84-86 (2017)
 DOI:10.1136/jmedgenet-2016-103943
 PMID:30520571
 著者        Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M
 タイトル      Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
 雑誌        Hum Mutat 40:267-280 (2019)
 DOI:10.1002/humu.23694
 PMID:34186028
 著者        Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M, Agrawal PB
 タイトル      Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
 雑誌        Am J Hum Genet 108:1450-1465 (2021)
 DOI:10.1016/j.ajhg.2021.06.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02397"">H02397</a>","運動異常や筋緊張低下を伴う神経発達障害
 下位グループ    運動異常、歩行異常および自閉症状を伴う神経発達障害 (NEDMAGA)
 行動異常、失語症および筋緊張低下を伴う神経発達障害 (NEDBASH)
 不随意運動および脳波の異常を伴う神経発達障害 (NEDIMAE)
 筋緊張低下、多動性運動を含む自閉症状を伴う神経発達障害 (NEDHAHM)
 筋緊張低下および様々な知能・行動異常を伴う神経発達障害 (NEDHIB)
 筋緊張低下と顔異形を伴う神経発達障害 (NEDHYDF)
 多動性運動および痙攣発作を伴う神経発達障害 (NDHMSR)
 言語障害と行動異常を伴う神経発達障害 (NEDLIB)
 痙攣発作および歩行障害を伴う神経発達障害 (NEDSGA)
 痙攣発作、筋緊張低下および脳の異常を伴う神経発達障害 (NEDSHBA)
 筋緊張低下、新生児呼吸障害および体温調節障害を伴う神経発達障害 (NEDHRIT)
 筋緊張低下、痙攣発作および失語症を伴う神経発達障害 (NDHSAL)
 筋緊張低下と顔異形および脳の異常を伴う神経発達障害 (NEDHFBA)
 脳の異常と筋緊張低下を伴う神経発達障害 (NEDHYBA)
 顔異形、発話障害および筋緊張低下を伴う神経発達障害 (NEDDISH)
 上位グループ    症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]",Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or hypotonia. Several underlying genetic causes of these diseases have been identified.,,"(NEDMAGA) ZSWIM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57688"">57688</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25704"">K25704</a>]
 (NEDBASH) NTNG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84628"">84628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16359"">K16359</a>]
 (NEDIMAE) SYT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6857"">6857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15290"">K15290</a>]
 (NEDHAHM) VAMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6844"">6844</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13504"">K13504</a>]
 (NEDHIB) POLR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5430"">5430</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03006"">K03006</a>]
 (NEDHYDF) GNB2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2783"">2783</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04537"">K04537</a>]
 (NDHMSR) GRIN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2902"">2902</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05208"">K05208</a>]
 (NEDLIB) GRIA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2891"">2891</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05198"">K05198</a>]
 (NEDSGA) GRIA4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2893"">2893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05200"">K05200</a>]
 (NEDSHBA) GRM7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2917"">2917</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04609"">K04609</a>]
 (NEDHRIT) RALGAPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:253959"">253959</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25768"">K25768</a>]
 (NDHSAL) HECW2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57520"">57520</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12168"">K12168</a>]
 (NEDHFBA) PPP1R21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:129285"">129285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17562"">K17562</a>]
 (NEDHYBA) CLCN3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1182"">1182</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05012"">K05012</a>]
 (NEDDISH) MADD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8567"">8567</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/617865"">617865</a> <a href=""https://www.omim.org/entry/618718"">618718</a> <a href=""https://www.omim.org/entry/618218"">618218</a> <a href=""https://www.omim.org/entry/618760"">618760</a> <a href=""https://www.omim.org/entry/618603"">618603</a> <a href=""https://www.omim.org/entry/619503"">619503</a> <a href=""https://www.omim.org/entry/617820"">617820</a> <a href=""https://www.omim.org/entry/618917"">618917</a> <a href=""https://www.omim.org/entry/617864"">617864</a> <a href=""https://www.omim.org/entry/618922"">618922</a> <a href=""https://www.omim.org/entry/618797"">618797</a> <a href=""https://www.omim.org/entry/617268"">617268</a> <a href=""https://www.omim.org/entry/619383"">619383</a> <a href=""https://www.omim.org/entry/619512"">619512</a> <a href=""https://www.omim.org/entry/619005"">619005</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29198722"">29198722</a>
 著者        Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschke P, Garrigue A, de Saint Basile G, Kivuva E, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J
 タイトル      A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
 雑誌        Am J Hum Genet 101:995-1005 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.10.009"">10.1016/j.ajhg.2017.10.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28433741"">28433741</a>
 著者        Tischfield DJ, Saraswat DK, Furash A, Fowler SC, Fuccillo MV, Anderson SA
 タイトル      Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.
 雑誌        Neurobiol Dis 103:174-183 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.nbd.2017.04.013"">10.1016/j.nbd.2017.04.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31668703"">31668703</a>
 著者        Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R
 タイトル      Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 105:1048-1056 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.025"">10.1016/j.ajhg.2019.09.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30107533"">30107533</a>
 著者        Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL
 タイトル      SYT1-associated neurodevelopmental disorder: a case series.
 雑誌        Brain 141:2576-2591 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy209"">10.1093/brain/awy209</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30929742"">30929742</a>
 著者        Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H
 タイトル      Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
 雑誌        Am J Hum Genet 104:721-730 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.016"">10.1016/j.ajhg.2019.02.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31353023"">31353023</a>
 著者        Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
 タイトル      De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
 雑誌        Am J Hum Genet 105:283-301 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.016"">10.1016/j.ajhg.2019.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31698099"">31698099</a>
 著者        Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H
 タイトル      Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
 雑誌        Eur J Med Genet 63:103804 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2019.103804"">10.1016/j.ejmg.2019.103804</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28389307"">28389307</a>
 著者        Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R
 タイトル      De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
 雑誌        Eur J Med Genet 60:317-320 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2017.04.001"">10.1016/j.ejmg.2017.04.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29220673"">29220673</a>
 著者        Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R
 タイトル      De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
 雑誌        Am J Hum Genet 101:1013-1020 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.11.004"">10.1016/j.ajhg.2017.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32286009"">32286009</a>
 著者        Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR
 タイトル      Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
 雑誌        Ann Clin Transl Neurol 7:610-627 (2020)
 DOI:<a href=""https://doi.org/10.1002/acn3.51003"">10.1002/acn3.51003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32004447"">32004447</a>
 著者        Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F
 タイトル      Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
 雑誌        Am J Hum Genet 106:246-255 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.01.002"">10.1016/j.ajhg.2020.01.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27389779"">27389779</a>
 著者        Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK
 タイトル      De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
 雑誌        J Med Genet 54:84-86 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-103943"">10.1136/jmedgenet-2016-103943</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30520571"">30520571</a>
 著者        Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M
 タイトル      Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
 雑誌        Hum Mutat 40:267-280 (2019)
 DOI:<a href=""https://doi.org/10.1002/humu.23694"">10.1002/humu.23694</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34186028"">34186028</a>
 著者        Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M, Agrawal PB
 タイトル      Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
 雑誌        Am J Hum Genet 108:1450-1465 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.06.003"">10.1016/j.ajhg.2021.06.003</a>"
H02398,新型コロナウイルス感染症,,,"Coronavirus disease of 2019 (COVID-19) is a highly contagious respiratory infection that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial cells [mainly alveolar epithelial type 2 (AEC2) cells] through the angiotensin-converting enzyme 2 (ACE2) receptor. Upon the occupancy of ACE2 by SARS-CoV-2, the increased serum level of free Angiotensin II (Ang II) due to a reduction of ACE2-mediated degradation promotes activation of the NF-kappa B pathway via Ang II type 1 receptor (AT1R), followed by  interleukin-6 (IL-6) production. SARS-CoV-2 also activates the innate immune system; macrophage stimulation triggers the overproduction of pro-inflammatory cytokines, including IL-6, and the ""cytokine storm"", which results in systemic inflammatory response syndrome and multiple organ failure. The combined effects of complement activation, dysregulated neutrophilia, endothelial injury, and hypercoagulability appear to be intertwined to drive the severe features of COVID-19.",感染症,"nt06122  IFN signaling (viruses)
 nt06133  RLR signaling (viruses)
 nt06136  Complement activation (viruses)
 nt06141  Translation (viruses)
 nt06171  Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)",,SARS-CoV-2 [GN:T40361],,,"バリシチニブ [DR:D10308]
 レムデシビル [DR:D11472]
 ソトロビマブ [DR:D12014]
 カシリビマブ・イムデビマブ [DR:D12142]
 ニルマトレルビル・リトナビル [DR:D12269]
 トジナメラン [DR:D11971]
 エラソメラン [DR:D12114]
 コロナウイルス(SARS-CoV-2)ワクチン [DR:D12115]
 コロナウイルス (SARS-CoV-2) ワクチン [DR:D12129]
 SARS-CoV-2 rS [DR:D12336]
 トシリズマブ [DR:D02596]
 モルヌピラビル [DR:D11943]",,,"PMID:32015508
 著者        Wu F, Zhao S, Yu B, Chen YM, Wang W, Song ZG, Hu Y, Tao ZW, Tian JH, Pei YY, Yuan ML, Zhang YL, Dai FH, Liu Y, Wang QM, Zheng JJ, Xu L, Holmes EC, Zhang YZ
 タイトル      A new coronavirus associated with human respiratory disease in China.
 雑誌        Nature 10.1038/s41586-020-2008-3 (2020)
 DOI:10.1038/s41586-020-2008-3
 PMID:31953166
 著者        Hui DS, I Azhar E, Madani TA, Ntoumi F, Kock R, Dar O, Ippolito G, Mchugh TD, Memish ZA, Drosten C, Zumla A, Petersen E
 タイトル      The continuing 2019-nCoV epidemic threat of novel coronaviruses to global health - The latest 2019 novel coronavirus outbreak in Wuhan, China.
 雑誌        Int J Infect Dis 91:264-266 (2020)
 DOI:10.1016/j.ijid.2020.01.009
 PMID:32722596
 著者        Kiselevskiy M, Shubina I, Chikileva I, Sitdikova S, Samoylenko I, Anisimova N, Kirgizov K, Suleimanova A, Gorbunova T, Varfolomeeva S
 タイトル      Immune Pathogenesis of COVID-19 Intoxication: Storm or Silence?
 雑誌        Pharmaceuticals (Basel) 13:E166 (2020)
 DOI:10.3390/ph13080166
 PMID:33014208
 著者        Hojyo S, Uchida M, Tanaka K, Hasebe R, Tanaka Y, Murakami M, Hirano T
 タイトル      How COVID-19 induces cytokine storm with high mortality.
 雑誌        Inflamm Regen 40:37 (2020)
 DOI:10.1186/s41232-020-00146-3
 PMID:32234467
 著者        Zhang C, Wu Z, Li JW, Zhao H, Wang GQ
 タイトル      Cytokine release syndrome in severe COVID-19: interleukin-6 receptor antagonist tocilizumab may be the key to reduce mortality.
 雑誌        Int J Antimicrob Agents 55:105954 (2020)
 DOI:10.1016/j.ijantimicag.2020.105954
 PMID:32699160
 著者        Lo MW, Kemper C, Woodruff TM
 タイトル      COVID-19: Complement, Coagulation, and Collateral Damage.
 雑誌        J Immunol 205:1488-1495 (2020)
 DOI:10.4049/jimmunol.2000644
 PMID:32461141
 著者        Noris M, Benigni A, Remuzzi G
 タイトル      The case of complement activation in COVID-19 multiorgan impact.
 雑誌        Kidney Int 98:314-322 (2020)
 DOI:10.1016/j.kint.2020.05.013
 PMID:32554923
 著者        Java A, Apicelli AJ, Liszewski MK, Coler-Reilly A, Atkinson JP, Kim AH, Kulkarni HS
 タイトル      The complement system in COVID-19: friend and foe?
 雑誌        JCI Insight 5:140711 (2020)
 DOI:10.1172/jci.insight.140711","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02398"">H02398</a>",新型コロナウイルス感染症,"Coronavirus disease of 2019 (COVID-19) is a highly contagious respiratory infection that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial cells [mainly alveolar epithelial type 2 (AEC2) cells] through the angiotensin-converting enzyme 2 (ACE2) receptor. Upon the occupancy of ACE2 by SARS-CoV-2, the increased serum level of free Angiotensin II (Ang II) due to a reduction of ACE2-mediated degradation promotes activation of the NF-kappa B pathway via Ang II type 1 receptor (AT1R), followed by  interleukin-6 (IL-6) production. SARS-CoV-2 also activates the innate immune system; macrophage stimulation triggers the overproduction of pro-inflammatory cytokines, including IL-6, and the ""cytokine storm"", which results in systemic inflammatory response syndrome and multiple organ failure. The combined effects of complement activation, dysregulated neutrophilia, endothelial injury, and hypercoagulability appear to be intertwined to drive the severe features of COVID-19.","<a href=""https://www.kegg.jp/network/nt06122"">nt06122</a>  IFN signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06133"">nt06133</a>  RLR signaling (viruses)
 <a href=""https://www.kegg.jp/network/nt06136"">nt06136</a>  Complement activation (viruses)
 <a href=""https://www.kegg.jp/network/nt06141"">nt06141</a>  Translation (viruses)
 <a href=""https://www.kegg.jp/network/nt06171"">nt06171</a>  Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)",,"SARS-CoV-2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40361"">T40361</a>]",,,"バリシチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10308"">D10308</a>]
 レムデシビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11472"">D11472</a>]
 ソトロビマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12014"">D12014</a>]
 カシリビマブ・イムデビマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12142"">D12142</a>]
 ニルマトレルビル・リトナビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12269"">D12269</a>]
 トジナメラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11971"">D11971</a>]
 エラソメラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12114"">D12114</a>]
 コロナウイルス(SARS-CoV-2)ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12115"">D12115</a>]
 コロナウイルス (SARS-CoV-2) ワクチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12129"">D12129</a>]
 SARS-CoV-2 rS [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D12336"">D12336</a>]
 トシリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02596"">D02596</a>]
 モルヌピラビル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11943"">D11943</a>]",,,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32015508"">32015508</a>
 著者        Wu F, Zhao S, Yu B, Chen YM, Wang W, Song ZG, Hu Y, Tao ZW, Tian JH, Pei YY, Yuan ML, Zhang YL, Dai FH, Liu Y, Wang QM, Zheng JJ, Xu L, Holmes EC, Zhang YZ
 タイトル      A new coronavirus associated with human respiratory disease in China.
 雑誌        Nature 10.1038/s41586-020-2008-3 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41586-020-2008-3"">10.1038/s41586-020-2008-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31953166"">31953166</a>
 著者        Hui DS, I Azhar E, Madani TA, Ntoumi F, Kock R, Dar O, Ippolito G, Mchugh TD, Memish ZA, Drosten C, Zumla A, Petersen E
 タイトル      The continuing 2019-nCoV epidemic threat of novel coronaviruses to global health - The latest 2019 novel coronavirus outbreak in Wuhan, China.
 雑誌        Int J Infect Dis 91:264-266 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ijid.2020.01.009"">10.1016/j.ijid.2020.01.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32722596"">32722596</a>
 著者        Kiselevskiy M, Shubina I, Chikileva I, Sitdikova S, Samoylenko I, Anisimova N, Kirgizov K, Suleimanova A, Gorbunova T, Varfolomeeva S
 タイトル      Immune Pathogenesis of COVID-19 Intoxication: Storm or Silence?
 雑誌        Pharmaceuticals (Basel) 13:E166 (2020)
 DOI:<a href=""https://doi.org/10.3390/ph13080166"">10.3390/ph13080166</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33014208"">33014208</a>
 著者        Hojyo S, Uchida M, Tanaka K, Hasebe R, Tanaka Y, Murakami M, Hirano T
 タイトル      How COVID-19 induces cytokine storm with high mortality.
 雑誌        Inflamm Regen 40:37 (2020)
 DOI:<a href=""https://doi.org/10.1186/s41232-020-00146-3"">10.1186/s41232-020-00146-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32234467"">32234467</a>
 著者        Zhang C, Wu Z, Li JW, Zhao H, Wang GQ
 タイトル      Cytokine release syndrome in severe COVID-19: interleukin-6 receptor antagonist tocilizumab may be the key to reduce mortality.
 雑誌        Int J Antimicrob Agents 55:105954 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ijantimicag.2020.105954"">10.1016/j.ijantimicag.2020.105954</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32699160"">32699160</a>
 著者        Lo MW, Kemper C, Woodruff TM
 タイトル      COVID-19: Complement, Coagulation, and Collateral Damage.
 雑誌        J Immunol 205:1488-1495 (2020)
 DOI:<a href=""https://doi.org/10.4049/jimmunol.2000644"">10.4049/jimmunol.2000644</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32461141"">32461141</a>
 著者        Noris M, Benigni A, Remuzzi G
 タイトル      The case of complement activation in COVID-19 multiorgan impact.
 雑誌        Kidney Int 98:314-322 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.kint.2020.05.013"">10.1016/j.kint.2020.05.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32554923"">32554923</a>
 著者        Java A, Apicelli AJ, Liszewski MK, Coler-Reilly A, Atkinson JP, Kim AH, Kulkarni HS
 タイトル      The complement system in COVID-19: friend and foe?
 雑誌        JCI Insight 5:140711 (2020)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.140711"">10.1172/jci.insight.140711</a>"
H02399,原発性アメーバ性髄膜脳炎,,,"Primary amoebic meningoencephalitis (PAM) is a perilous and devastating waterborne disease caused by Naegleria fowleri. N. fowleri is a free-living, thermophilic amoeba distributed worldwide in soil and warm freshwater. PAM is a rare but fatal disease usually affecting children and young adults all around the world. This acute infection is developed by the entry of N. fowleri through nasal cavity.",感染症,,,Naegleria fowleri,,,,,"ICD-11: 1F55
 MeSH: D020808","PMID:25883507
 著者        Shrestha GS, Parajuli NP, Shrestha PS, Acharya SP, Hamal R, Gajurel B, Khanal K, Marhatta MN
 タイトル      Primary amoebic meningoencephalitis.
 雑誌        J Neurosci Rural Pract 6:284-6 (2015)
 DOI:10.4103/0976-3147.153244
 PMID:26259797
 著者        Grace E, Asbill S, Virga K
 タイトル      Naegleria fowleri: pathogenesis, diagnosis, and treatment options.
 雑誌        Antimicrob Agents Chemother 59:6677-81 (2015)
 DOI:10.1128/AAC.01293-15
 PMID:31612525
 著者        Jahangeer M, Mahmood Z, Munir N, Waraich UE, Tahir IM, Akram M, Ali Shah SM, Zulfqar A, Zainab R
 タイトル      Naegleria fowleri: Sources of infection, pathophysiology, diagnosis, and management; a review.
 雑誌        Clin Exp Pharmacol Physiol 47:199-212 (2020)
 DOI:10.1111/1440-1681.13192","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02399"">H02399</a>",原発性アメーバ性髄膜脳炎,"Primary amoebic meningoencephalitis (PAM) is a perilous and devastating waterborne disease caused by Naegleria fowleri. N. fowleri is a free-living, thermophilic amoeba distributed worldwide in soil and warm freshwater. PAM is a rare but fatal disease usually affecting children and young adults all around the world. This acute infection is developed by the entry of N. fowleri through nasal cavity.",,,Naegleria fowleri,,,,,"ICD-11: 1F55
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020808"">D020808</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25883507"">25883507</a>
 著者        Shrestha GS, Parajuli NP, Shrestha PS, Acharya SP, Hamal R, Gajurel B, Khanal K, Marhatta MN
 タイトル      Primary amoebic meningoencephalitis.
 雑誌        J Neurosci Rural Pract 6:284-6 (2015)
 DOI:<a href=""https://doi.org/10.4103/0976-3147.153244"">10.4103/0976-3147.153244</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26259797"">26259797</a>
 著者        Grace E, Asbill S, Virga K
 タイトル      Naegleria fowleri: pathogenesis, diagnosis, and treatment options.
 雑誌        Antimicrob Agents Chemother 59:6677-81 (2015)
 DOI:<a href=""https://doi.org/10.1128/AAC.01293-15"">10.1128/AAC.01293-15</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31612525"">31612525</a>
 著者        Jahangeer M, Mahmood Z, Munir N, Waraich UE, Tahir IM, Akram M, Ali Shah SM, Zulfqar A, Zainab R
 タイトル      Naegleria fowleri: Sources of infection, pathophysiology, diagnosis, and management; a review.
 雑誌        Clin Exp Pharmacol Physiol 47:199-212 (2020)
 DOI:<a href=""https://doi.org/10.1111/1440-1681.13192"">10.1111/1440-1681.13192</a>"
H02400,リノスポリジウム症,,,"Rhinosporidiosis is a chronic, granulomatous infection caused by Rhinosporidium seeberi, a protist belonging to the mesomycetozoea family of aquatic parasites, which primarily affects the mucous membranes of the nose and eye. Disseminated disease is rare. Rhinosporidium seeberi was first described in 1900. The disease is more common in South India and Sri Lanka.",感染症,,,Rhinosporidium seeberi,,,,"Several authors have proposed that the infection is acquired via direct exposure to contaminated water (ponds, lakes or rivers) or field dust.","ICD-11: 1F56
 MeSH: D012227","PMID:20954821
 著者        Das S, Kashyap B, Barua M, Gupta N, Saha R, Vaid L, Banka A
 タイトル      Nasal rhinosporidiosis in humans: new interpretations and a review of the literature of this enigmatic disease.
 雑誌        Med Mycol 49:311-5 (2011)
 DOI:10.3109/13693786.2010.526640
 PMID:9163838
 著者        Reidy JJ, Sudesh S, Klafter AB, Olivia C
 タイトル      Infection of the conjunctiva by Rhinosporidium seeberi.
 雑誌        Surv Ophthalmol 41:409-13 (1997)
 DOI:10.1016/s0039-6257(97)00007-6
 PMID:20529389
 著者        Madana J, Yolmo D, Gopalakrishnan S, Saxena SK
 タイトル      Rhinosporidiosis of the upper airways and trachea.
 雑誌        J Laryngol Otol 124:1139-41 (2010)
 DOI:10.1017/S002221511000126X","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02400"">H02400</a>",リノスポリジウム症,"Rhinosporidiosis is a chronic, granulomatous infection caused by Rhinosporidium seeberi, a protist belonging to the mesomycetozoea family of aquatic parasites, which primarily affects the mucous membranes of the nose and eye. Disseminated disease is rare. Rhinosporidium seeberi was first described in 1900. The disease is more common in South India and Sri Lanka.",,,Rhinosporidium seeberi,,,,"Several authors have proposed that the infection is acquired via direct exposure to contaminated water (ponds, lakes or rivers) or field dust.","ICD-11: 1F56
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012227"">D012227</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20954821"">20954821</a>
 著者        Das S, Kashyap B, Barua M, Gupta N, Saha R, Vaid L, Banka A
 タイトル      Nasal rhinosporidiosis in humans: new interpretations and a review of the literature of this enigmatic disease.
 雑誌        Med Mycol 49:311-5 (2011)
 DOI:<a href=""https://doi.org/10.3109/13693786.2010.526640"">10.3109/13693786.2010.526640</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9163838"">9163838</a>
 著者        Reidy JJ, Sudesh S, Klafter AB, Olivia C
 タイトル      Infection of the conjunctiva by Rhinosporidium seeberi.
 雑誌        Surv Ophthalmol 41:409-13 (1997)
 DOI:<a href=""https://doi.org/10.1016/s0039-6257(97)00007-6"">10.1016/s0039-6257(97)00007-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20529389"">20529389</a>
 著者        Madana J, Yolmo D, Gopalakrishnan S, Saxena SK
 タイトル      Rhinosporidiosis of the upper airways and trachea.
 雑誌        J Laryngol Otol 124:1139-41 (2010)
 DOI:<a href=""https://doi.org/10.1017/S002221511000126X"">10.1017/S002221511000126X</a>"
H02401,アカントアメーバ感染症,,,"Acanthamoebiasis is a rare infectious disease caused by free-living amoebae belonging to the genus Acanthamoeba. Acanthamoeba are the causative agents of granulomatous amebic encephalitis (GAE) and amebic keratitis (AK). They also have been associated with cutaneous lesions and sinusitis in individuals with compromised immune systems. Acanthamoeba are widely distributed in the environment, including soil, water and air. Entry can occur through the eye, the nasal passages, or ulcerated or broken skin.",感染症,,,Acanthamoeba spp.,,,,The most commonly isolated strain of Acanthamoeba from patients with GAE and AK is genotype T4. Acanthamoeba acts as a host and vector for many pathogenic microorganisms.,"ICD-11: 1F50
 MeSH: D020808","PMID:12692099
 著者        Marciano-Cabral F, Cabral G
 タイトル      Acanthamoeba spp. as agents of disease in humans.
 雑誌        Clin Microbiol Rev 16:273-307 (2003)
 DOI:10.1128/cmr.16.2.273-307.2003
 PMID:30720249
 著者        Kot K, Lanocha-Arendarczyk NA, Kosik-Bogacka DI
 タイトル      Amoebas from the genus Acanthamoeba and their pathogenic properties
 雑誌        Ann Parasitol 64:299-308 (2018)
 DOI:10.17420/ap6404.164
 PMID:31647916
 著者        Kalra SK, Sharma P, Shyam K, Tejan N, Ghoshal U
 タイトル      Acanthamoeba and its pathogenic role in granulomatous amebic encephalitis.
 雑誌        Exp Parasitol 208:107788 (2020)
 DOI:10.1016/j.exppara.2019.107788","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02401"">H02401</a>",アカントアメーバ感染症,"Acanthamoebiasis is a rare infectious disease caused by free-living amoebae belonging to the genus Acanthamoeba. Acanthamoeba are the causative agents of granulomatous amebic encephalitis (GAE) and amebic keratitis (AK). They also have been associated with cutaneous lesions and sinusitis in individuals with compromised immune systems. Acanthamoeba are widely distributed in the environment, including soil, water and air. Entry can occur through the eye, the nasal passages, or ulcerated or broken skin.",,,Acanthamoeba spp.,,,,The most commonly isolated strain of Acanthamoeba from patients with GAE and AK is genotype T4. Acanthamoeba acts as a host and vector for many pathogenic microorganisms.,"ICD-11: 1F50
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020808"">D020808</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12692099"">12692099</a>
 著者        Marciano-Cabral F, Cabral G
 タイトル      Acanthamoeba spp. as agents of disease in humans.
 雑誌        Clin Microbiol Rev 16:273-307 (2003)
 DOI:<a href=""https://doi.org/10.1128/cmr.16.2.273-307.2003"">10.1128/cmr.16.2.273-307.2003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30720249"">30720249</a>
 著者        Kot K, Lanocha-Arendarczyk NA, Kosik-Bogacka DI
 タイトル      Amoebas from the genus Acanthamoeba and their pathogenic properties
 雑誌        Ann Parasitol 64:299-308 (2018)
 DOI:<a href=""https://doi.org/10.17420/ap6404.164"">10.17420/ap6404.164</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31647916"">31647916</a>
 著者        Kalra SK, Sharma P, Shyam K, Tejan N, Ghoshal U
 タイトル      Acanthamoeba and its pathogenic role in granulomatous amebic encephalitis.
 雑誌        Exp Parasitol 208:107788 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.exppara.2019.107788"">10.1016/j.exppara.2019.107788</a>"
H02402,"甲状腺眼病;
 グレーブス眼病",,,"Thyroid eye disease (TED), also called Graves ophthalmopathy, is an autoimmune disorder of the retrobulbar tissue. It is the most frequent extrathyroidal manifestation of Graves disease [DS:H00082]. Although TED is often associated with hyperthyroidism, it may occur in primary hypothyroidism, and sometimes in euthyroid individuals.",免疫疾患,,,,,,,,"ICD-11: 5A02.0
 ICD-10: E05.0
 MeSH: D049970
 OMIM: 275000","PMID:27701774
 著者        Weiler DL
 タイトル      Thyroid eye disease: a review.
 雑誌        Clin Exp Optom 100:20-25 (2017)
 DOI:10.1111/cxo.12472
 PMID:25606151
 著者        Mallika P, Tan A, Aziz S, Alwi SS, Chong M, Vanitha R, Intan G
 タイトル      Thyroid associated ophthalmopathy - a review.
 雑誌        Malays Fam Physician 4:8-14 (2009)
 PMID:11502779
 著者        Marcocci C, Bartalena L, Tanda ML, Manetti L, Dell'Unto E, Rocchi R, Barbesino G, Mazzi B, Bartolomei MP, Lepri P, Cartei F, Nardi M, Pinchera A
 タイトル      Comparison of the effectiveness and tolerability of intravenous or oral glucocorticoids associated with orbital radiotherapy in the management of severe  Graves' ophthalmopathy: results of a prospective, single-blind, randomized study.
 雑誌        J Clin Endocrinol Metab 86:3562-7 (2001)
 DOI:10.1210/jcem.86.8.7737","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02402"">H02402</a>","甲状腺眼病;
 グレーブス眼病","Thyroid eye disease (TED), also called Graves ophthalmopathy, is an autoimmune disorder of the retrobulbar tissue. It is the most frequent extrathyroidal manifestation of Graves disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00082]."">H00082].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Although"">Although</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:TED"">TED</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:often"">often</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:associated"">associated</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hyperthyroidism,"">hyperthyroidism,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:it"">it</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:may"">may</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:occur"">occur</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:primary"">primary</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hypothyroidism,"">hypothyroidism,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:sometimes"">sometimes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:euthyroid"">euthyroid</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:individuals."">individuals.</a>",,,,,,,,"ICD-11: 5A02.0
 ICD-10: E05.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D049970"">D049970</a>
 OMIM: <a href=""https://www.omim.org/entry/275000"">275000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27701774"">27701774</a>
 著者        Weiler DL
 タイトル      Thyroid eye disease: a review.
 雑誌        Clin Exp Optom 100:20-25 (2017)
 DOI:<a href=""https://doi.org/10.1111/cxo.12472"">10.1111/cxo.12472</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25606151"">25606151</a>
 著者        Mallika P, Tan A, Aziz S, Alwi SS, Chong M, Vanitha R, Intan G
 タイトル      Thyroid associated ophthalmopathy - a review.
 雑誌        Malays Fam Physician 4:8-14 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11502779"">11502779</a>
 著者        Marcocci C, Bartalena L, Tanda ML, Manetti L, Dell'Unto E, Rocchi R, Barbesino G, Mazzi B, Bartolomei MP, Lepri P, Cartei F, Nardi M, Pinchera A
 タイトル      Comparison of the effectiveness and tolerability of intravenous or oral glucocorticoids associated with orbital radiotherapy in the management of severe  Graves' ophthalmopathy: results of a prospective, single-blind, randomized study.
 雑誌        J Clin Endocrinol Metab 86:3562-7 (2001)
 DOI:<a href=""https://doi.org/10.1210/jcem.86.8.7737"">10.1210/jcem.86.8.7737</a>"
H02403,住血線虫症,,,"Angiostrongyliasis is a food-borne parasitic zoonosis caused by nematode worms of the genus Angiostrongylus. Over 20 species of Angiostrongylus are currently recognized. Two species, A. cantonensis and A. costaricensis, are considered pathogenic agents when the larvae accidentally parasitise man. Angiostrongylus cantonensis was discovered in Guangzhou (Canton), China, in 1935. Angiostrongylus costaricensis was discovered in Costa Rica in 1967.",感染症,,,"Angiostrongylus cantonensis
 Angiostrongylus costaricensis",,,,,"ICD-11: 1F60
 MeSH: C536369","PMID:18922484
 著者        Wang QP, Lai DH, Zhu XQ, Chen XG, Lun ZR
 タイトル      Human angiostrongyliasis.
 雑誌        Lancet Infect Dis 8:621-30 (2008)
 DOI:10.1016/S1473-3099(08)70229-9
 PMID:29633710
 著者        Dard C, Nguyen D, Miossec C, de Meuron K, Harrois D, Epelboin L, Cabie A, Desbois-Nogard N
 タイトル      Angiostrongylus costaricensis infection in Martinique, Lesser Antilles, from 2000 to 2017.
 雑誌        Parasite 25:22 (2018)
 DOI:10.1051/parasite/2018022
 PMID:29412352
 著者        Valente R, Robles MDR, Navone GT, Diaz JI
 タイトル      Angiostrongylus spp. in the Americas: geographical and chronological distribution of definitive hosts versus disease reports.
 雑誌        Mem Inst Oswaldo Cruz 113:143-152 (2018)
 DOI:10.1590/0074-02760170226","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02403"">H02403</a>",住血線虫症,"Angiostrongyliasis is a food-borne parasitic zoonosis caused by nematode worms of the genus Angiostrongylus. Over 20 species of Angiostrongylus are currently recognized. Two species, A. cantonensis and A. costaricensis, are considered pathogenic agents when the larvae accidentally parasitise man. Angiostrongylus cantonensis was discovered in Guangzhou (Canton), China, in 1935. Angiostrongylus costaricensis was discovered in Costa Rica in 1967.",,,"Angiostrongylus cantonensis
 Angiostrongylus costaricensis",,,,,"ICD-11: 1F60
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536369"">C536369</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18922484"">18922484</a>
 著者        Wang QP, Lai DH, Zhu XQ, Chen XG, Lun ZR
 タイトル      Human angiostrongyliasis.
 雑誌        Lancet Infect Dis 8:621-30 (2008)
 DOI:<a href=""https://doi.org/10.1016/S1473-3099(08)70229-9"">10.1016/S1473-3099(08)70229-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29633710"">29633710</a>
 著者        Dard C, Nguyen D, Miossec C, de Meuron K, Harrois D, Epelboin L, Cabie A, Desbois-Nogard N
 タイトル      Angiostrongylus costaricensis infection in Martinique, Lesser Antilles, from 2000 to 2017.
 雑誌        Parasite 25:22 (2018)
 DOI:<a href=""https://doi.org/10.1051/parasite/2018022"">10.1051/parasite/2018022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29412352"">29412352</a>
 著者        Valente R, Robles MDR, Navone GT, Diaz JI
 タイトル      Angiostrongylus spp. in the Americas: geographical and chronological distribution of definitive hosts versus disease reports.
 雑誌        Mem Inst Oswaldo Cruz 113:143-152 (2018)
 DOI:<a href=""https://doi.org/10.1590/0074-02760170226"">10.1590/0074-02760170226</a>"
H02404,毛頭虫症,,,Capillariasis is an infectious disease caused by nematode worms of the genus Capillaria. Intestinal capillariasis caused by Capillaria philippinensis appeared first in the Philippines in 1964. Major outbreaks have occurred in the Philippines and Thailand. It is believed that the means of transmission of C. philippinensis is by eating uncooked fish.,感染症,,,Capillaria philippinensis,,,,"Two rare causes of zoonotic capillariasis in humans include C. hepatica, which causes a hepatic capillariasis, and C. aerophila, which causes a pulmonary capillariasis.","ICD-11: 1F63
 MeSH: D017189","PMID:1576584
 著者        Cross JH
 タイトル      Intestinal capillariasis.
 雑誌        Clin Microbiol Rev 5:120-9 (1992)
 DOI:10.1128/cmr.5.2.120
 PMID:18203280
 著者        Saichua P, Nithikathkul C, Kaewpitoon N
 タイトル      Human intestinal capillariasis in Thailand.
 雑誌        World J Gastroenterol 14:506-10 (2008)
 DOI:10.3748/wjg.14.506
 PMID:30710532
 著者        Wang L, Zhang Y, Deng Y, Li X, Zheng X, Wang F, Zou Y
 タイトル      Clinical and laboratory characterizations of hepatic capillariasis.
 雑誌        Acta Trop 193:206-210 (2019)
 DOI:10.1016/j.actatropica.2019.01.023
 PMID:18187778
 著者        Lalosevic D, Lalosevic V, Klem I, Stanojev-Jovanovic D, Pozio E
 タイトル      Pulmonary capillariasis miming bronchial carcinoma.
 雑誌        Am J Trop Med Hyg 78:14-6 (2008)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02404"">H02404</a>",毛頭虫症,Capillariasis is an infectious disease caused by nematode worms of the genus Capillaria. Intestinal capillariasis caused by Capillaria philippinensis appeared first in the Philippines in 1964. Major outbreaks have occurred in the Philippines and Thailand. It is believed that the means of transmission of C. philippinensis is by eating uncooked fish.,,,Capillaria philippinensis,,,,"Two rare causes of zoonotic capillariasis in humans include C. hepatica, which causes a hepatic capillariasis, and C. aerophila, which causes a pulmonary capillariasis.","ICD-11: 1F63
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017189"">D017189</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1576584"">1576584</a>
 著者        Cross JH
 タイトル      Intestinal capillariasis.
 雑誌        Clin Microbiol Rev 5:120-9 (1992)
 DOI:<a href=""https://doi.org/10.1128/cmr.5.2.120"">10.1128/cmr.5.2.120</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18203280"">18203280</a>
 著者        Saichua P, Nithikathkul C, Kaewpitoon N
 タイトル      Human intestinal capillariasis in Thailand.
 雑誌        World J Gastroenterol 14:506-10 (2008)
 DOI:<a href=""https://doi.org/10.3748/wjg.14.506"">10.3748/wjg.14.506</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30710532"">30710532</a>
 著者        Wang L, Zhang Y, Deng Y, Li X, Zheng X, Wang F, Zou Y
 タイトル      Clinical and laboratory characterizations of hepatic capillariasis.
 雑誌        Acta Trop 193:206-210 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2019.01.023"">10.1016/j.actatropica.2019.01.023</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18187778"">18187778</a>
 著者        Lalosevic D, Lalosevic V, Klem I, Stanojev-Jovanovic D, Pozio E
 タイトル      Pulmonary capillariasis miming bronchial carcinoma.
 雑誌        Am J Trop Med Hyg 78:14-6 (2008)"
H02405,Oesophagostomiasis,,,Oesophagostomiasis is an infectious disease normally caused by Oesophagostomum bifurcum. Oesophagostomum bifurcum is highly and focally endemic in northern Ghana and Togo. Oesophagostomum species in man were first found in 1905 in southern Ethiopia.,感染症,,,Oesophagostomum bifurcum,,,,"Oesophagostomum species involved in human infections have been referred to as O. bifurcum, O. stephanostomum and possibly as O. aculeatum.","ICD-11: 1F69
 MeSH: D009814","PMID:15275382
 著者        Polderman AM, Blotkamp J
 タイトル      Oesophagostomum infections in humans.
 雑誌        Parasitol Today 11:451-6 (1995)
 DOI:10.1016/0169-4758(95)80058-1
 PMID:10897362
 著者        Storey PA, Faile G, Hewitt E, Yelifari L, Polderman AM, Magnussen P
 タイトル      Clinical epidemiology and classification of human oesophagostomiasis.
 雑誌        Trans R Soc Trop Med Hyg 94:177-82 (2000)
 DOI:10.1016/s0035-9203(00)90267-0
 著者        Rollinson D, Hay SI.
 タイトル      Advances in Parasitology Volume 71
 雑誌        Elsevier (2010)
 DOI:10.1016/S0065-308X(10)71002-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02405"">H02405</a>",Oesophagostomiasis,Oesophagostomiasis is an infectious disease normally caused by Oesophagostomum bifurcum. Oesophagostomum bifurcum is highly and focally endemic in northern Ghana and Togo. Oesophagostomum species in man were first found in 1905 in southern Ethiopia.,,,Oesophagostomum bifurcum,,,,"Oesophagostomum species involved in human infections have been referred to as O. bifurcum, O. stephanostomum and possibly as O. aculeatum.","ICD-11: 1F69
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009814"">D009814</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15275382"">15275382</a>
 著者        Polderman AM, Blotkamp J
 タイトル      Oesophagostomum infections in humans.
 雑誌        Parasitol Today 11:451-6 (1995)
 DOI:<a href=""https://doi.org/10.1016/0169-4758(95)80058-1"">10.1016/0169-4758(95)80058-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10897362"">10897362</a>
 著者        Storey PA, Faile G, Hewitt E, Yelifari L, Polderman AM, Magnussen P
 タイトル      Clinical epidemiology and classification of human oesophagostomiasis.
 雑誌        Trans R Soc Trop Med Hyg 94:177-82 (2000)
 DOI:<a href=""https://doi.org/10.1016/s0035-9203(00)90267-0"">10.1016/s0035-9203(00)90267-0</a>
 著者        Rollinson D, Hay SI.
 タイトル      Advances in Parasitology Volume 71
 雑誌        Elsevier (2010)
 DOI:<a href=""https://doi.org/10.1016/S0065-308X(10)71002-2"">10.1016/S0065-308X(10)71002-2</a>"
H02406,Syngamosis,,,Syngamosis is a quite rare infectious disease caused by nematodes of the genus Mammomonogamus. Mammomonogamus laryngeus is the most common agent of human syngamosis. It was first demonstrated in 1899. Transmission is by ingestion of infective larvae.,感染症,,,Mammomonogamus laryngeus,,,,,ICD-11: 1F6C,"PMID:7790476
 著者        Nosanchuk JS, Wade SE, Landolf M
 タイトル      Case report of and description of parasite in Mammomonogamus laryngeus (human syngamosis) infection.
 雑誌        J Clin Microbiol 33:998-1000 (1995)
 DOI:10.1128/JCM.33.4.998-1000.1995
 PMID:8417893
 著者        de Lara Tde A, Barbosa MA, de Oliveira MR, de Godoy I, Queluz TT
 タイトル      Human syngamosis. Two cases of chronic cough caused by Mammomonogamus laryngeus.
 雑誌        Chest 103:264-5 (1993)
 DOI:10.1378/chest.103.1.264
 PMID:25992048
 著者        Pulcherio JO, Machado da Silva EO, Rezende DP, Barbeira PB, Machado RS, Baptista de Oliveira MA
 タイトル      Human syngamosis as an uncommon cause of chronic cough.
 雑誌        Int Arch Otorhinolaryngol 17:413-4 (2013)
 DOI:10.1055/s-0033-1351680","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02406"">H02406</a>",Syngamosis,Syngamosis is a quite rare infectious disease caused by nematodes of the genus Mammomonogamus. Mammomonogamus laryngeus is the most common agent of human syngamosis. It was first demonstrated in 1899. Transmission is by ingestion of infective larvae.,,,Mammomonogamus laryngeus,,,,,ICD-11: 1F6C,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7790476"">7790476</a>
 著者        Nosanchuk JS, Wade SE, Landolf M
 タイトル      Case report of and description of parasite in Mammomonogamus laryngeus (human syngamosis) infection.
 雑誌        J Clin Microbiol 33:998-1000 (1995)
 DOI:<a href=""https://doi.org/10.1128/JCM.33.4.998-1000.1995"">10.1128/JCM.33.4.998-1000.1995</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8417893"">8417893</a>
 著者        de Lara Tde A, Barbosa MA, de Oliveira MR, de Godoy I, Queluz TT
 タイトル      Human syngamosis. Two cases of chronic cough caused by Mammomonogamus laryngeus.
 雑誌        Chest 103:264-5 (1993)
 DOI:<a href=""https://doi.org/10.1378/chest.103.1.264"">10.1378/chest.103.1.264</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25992048"">25992048</a>
 著者        Pulcherio JO, Machado da Silva EO, Rezende DP, Barbeira PB, Machado RS, Baptista de Oliveira MA
 タイトル      Human syngamosis as an uncommon cause of chronic cough.
 雑誌        Int Arch Otorhinolaryngol 17:413-4 (2013)
 DOI:<a href=""https://doi.org/10.1055/s-0033-1351680"">10.1055/s-0033-1351680</a>"
H02407,毛様線虫症,,,Trichostrongyliasis is an infectious disease caused by nematodes of the genus Trichostrongylus. Over 10 species of Trichostrongylus have been reported in humans. Trichostrongylus colubriformis and T. orientali were detected to be more frequent. Transmission is mainly by ingesting infective larvae or infrequently penetrating to the skin.,感染症,,,"Trichostrongylus colubriformis
 Trichostrongylus orientali
 Trichostrongylus spp.",,,ピランテルパモ酸塩 [DR:D00486],"With the exception of T. orientalis, the other species are zoonotic.","ICD-11: 1F6F
 MeSH: D014253","PMID:28760481
 著者        Sharifdini M, Derakhshani S, Alizadeh SA, Ghanbarzadeh L, Mirjalali H, Mobedi I, Saraei M
 タイトル      Molecular identification and phylogenetic analysis of human Trichostrongylus species from an endemic area of Iran.
 雑誌        Acta Trop 176:293-299 (2017)
 DOI:10.1016/j.actatropica.2017.07.001
 PMID:25904953
 著者        Gholami S, Babamahmoodi F, Abedian R, Sharif M, Shahbazi A, Pagheh A, Fakhar M
 タイトル      Trichostrongylus colubriformis: Possible Most Common Cause of Human Infection in Mazandaran Province, North of Iran.
 雑誌        Iran J Parasitol 10:110-5 (2015)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02407"">H02407</a>",毛様線虫症,Trichostrongyliasis is an infectious disease caused by nematodes of the genus Trichostrongylus. Over 10 species of Trichostrongylus have been reported in humans. Trichostrongylus colubriformis and T. orientali were detected to be more frequent. Transmission is mainly by ingesting infective larvae or infrequently penetrating to the skin.,,,"Trichostrongylus colubriformis
 Trichostrongylus orientali
 Trichostrongylus spp.",,,"ピランテルパモ酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00486"">D00486</a>]","With the exception of T. orientalis, the other species are zoonotic.","ICD-11: 1F6F
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D014253"">D014253</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28760481"">28760481</a>
 著者        Sharifdini M, Derakhshani S, Alizadeh SA, Ghanbarzadeh L, Mirjalali H, Mobedi I, Saraei M
 タイトル      Molecular identification and phylogenetic analysis of human Trichostrongylus species from an endemic area of Iran.
 雑誌        Acta Trop 176:293-299 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.actatropica.2017.07.001"">10.1016/j.actatropica.2017.07.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25904953"">25904953</a>
 著者        Gholami S, Babamahmoodi F, Abedian R, Sharif M, Shahbazi A, Pagheh A, Fakhar M
 タイトル      Trichostrongylus colubriformis: Possible Most Common Cause of Human Infection in Mazandaran Province, North of Iran.
 雑誌        Iran J Parasitol 10:110-5 (2015)"
H02408,瓜実条虫症,,,"Dipylidiasis is a rare zoonotic infectious disease caused by Dipylidium caninum, a common intestinal tapeworm of dogs and cats. Humans get infection by accidental ingestion of the intermediate hosts. This parasitic disease is first described in humans in 1758.",感染症,,,Dipylidium caninum,,,,"Intermediate hosts include the dog flea (Ctenocephalides canis), the cat flea (C. felis) and occasionally the human flea (Pulex irritans), as well as the chewing louse of dogs (Trichodectes canis).","ICD-11: 1F72
 MeSH: D002590","PMID:22674592
 著者        Cabello RR, Ruiz AC, Feregrino RR, Romero LC, Feregrino RR, Zavala JT
 タイトル      Dipylidium caninum infection.
 雑誌        BMJ Case Rep 2011:bcr0720114510 (2011)
 DOI:10.1136/bcr.07.2011.4510
 PMID:23508438
 著者        Narasimham MV, Panda P, Mohanty I, Sahu S, Padhi S, Dash M
 タイトル      Dipylidium caninum infection in a child: a rare case report.
 雑誌        Indian J Med Microbiol 31:82-4 (2013)
 DOI:10.4103/0255-0857.108738
 PMID:28285500
 著者        Jiang P, Zhang X, Liu RD, Wang ZQ, Cui J
 タイトル      A Human Case of Zoonotic Dog Tapeworm, Dipylidium caninum (Eucestoda: Dilepidiidae), in China.
 雑誌        Korean J Parasitol 55:61-64 (2017)
 DOI:10.3347/kjp.2017.55.1.61","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02408"">H02408</a>",瓜実条虫症,"Dipylidiasis is a rare zoonotic infectious disease caused by Dipylidium caninum, a common intestinal tapeworm of dogs and cats. Humans get infection by accidental ingestion of the intermediate hosts. This parasitic disease is first described in humans in 1758.",,,Dipylidium caninum,,,,"Intermediate hosts include the dog flea (Ctenocephalides canis), the cat flea (C. felis) and occasionally the human flea (Pulex irritans), as well as the chewing louse of dogs (Trichodectes canis).","ICD-11: 1F72
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002590"">D002590</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22674592"">22674592</a>
 著者        Cabello RR, Ruiz AC, Feregrino RR, Romero LC, Feregrino RR, Zavala JT
 タイトル      Dipylidium caninum infection.
 雑誌        BMJ Case Rep 2011:bcr0720114510 (2011)
 DOI:<a href=""https://doi.org/10.1136/bcr.07.2011.4510"">10.1136/bcr.07.2011.4510</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23508438"">23508438</a>
 著者        Narasimham MV, Panda P, Mohanty I, Sahu S, Padhi S, Dash M
 タイトル      Dipylidium caninum infection in a child: a rare case report.
 雑誌        Indian J Med Microbiol 31:82-4 (2013)
 DOI:<a href=""https://doi.org/10.4103/0255-0857.108738"">10.4103/0255-0857.108738</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28285500"">28285500</a>
 著者        Jiang P, Zhang X, Liu RD, Wang ZQ, Cui J
 タイトル      A Human Case of Zoonotic Dog Tapeworm, Dipylidium caninum (Eucestoda: Dilepidiidae), in China.
 雑誌        Korean J Parasitol 55:61-64 (2017)
 DOI:<a href=""https://doi.org/10.3347/kjp.2017.55.1.61"">10.3347/kjp.2017.55.1.61</a>"
H02409,Dicrocoeliasis,,,"Dicrocoeliosis is a rare food-borne parasitic zoonosis caused by Dicrocoelium dendriticum, commonly known as the Lancet liver fluke. Human infection occurs by accidental ingestion of the second intermediate host.",感染症,,,Dicrocoelium dendriticum,,,,"Dicrocoelium dendriticum has a complex life cycle with two intermediate hosts: the land snail of the Helicella, Theba and Zebrina genera and ant mainly of the genus Formica.","ICD-11: 1F81
 MeSH: D004011","PMID:21736477
 著者        Jeandron A, Rinaldi L, Abdyldaieva G, Usubalieva J, Steinmann P, Cringoli G, Utzinger J
 タイトル      Human infections with Dicrocoelium dendriticum in Kyrgyzstan: the tip of the iceberg?
 雑誌        J Parasitol 97:1170-2 (2011)
 DOI:10.1645/GE-2828.1
 PMID:21929882
 著者        Cabeza-Barrera I, Cabezas-Fernandez T, Salas Coronas J, Vazquez Villegas J, Cobo F
 タイトル      Dicrocoelium dendriticum: an emerging spurious infection in a geographic area with a high level of immigration.
 雑誌        Ann Trop Med Parasitol 105:403-6 (2011)
 DOI:10.1179/1364859411Y.0000000029
 PMID:18560636
 著者        Schweiger F, Kuhn M
 タイトル      Dicrocoelium dendriticum infection in a patient with Crohn's disease.
 雑誌        Can J Gastroenterol 22:571-3 (2008)
 DOI:10.1155/2008/912791","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02409"">H02409</a>",Dicrocoeliasis,"Dicrocoeliosis is a rare food-borne parasitic zoonosis caused by Dicrocoelium dendriticum, commonly known as the Lancet liver fluke. Human infection occurs by accidental ingestion of the second intermediate host.",,,Dicrocoelium dendriticum,,,,"Dicrocoelium dendriticum has a complex life cycle with two intermediate hosts: the land snail of the Helicella, Theba and Zebrina genera and ant mainly of the genus Formica.","ICD-11: 1F81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004011"">D004011</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21736477"">21736477</a>
 著者        Jeandron A, Rinaldi L, Abdyldaieva G, Usubalieva J, Steinmann P, Cringoli G, Utzinger J
 タイトル      Human infections with Dicrocoelium dendriticum in Kyrgyzstan: the tip of the iceberg?
 雑誌        J Parasitol 97:1170-2 (2011)
 DOI:<a href=""https://doi.org/10.1645/GE-2828.1"">10.1645/GE-2828.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21929882"">21929882</a>
 著者        Cabeza-Barrera I, Cabezas-Fernandez T, Salas Coronas J, Vazquez Villegas J, Cobo F
 タイトル      Dicrocoelium dendriticum: an emerging spurious infection in a geographic area with a high level of immigration.
 雑誌        Ann Trop Med Parasitol 105:403-6 (2011)
 DOI:<a href=""https://doi.org/10.1179/1364859411Y.0000000029"">10.1179/1364859411Y.0000000029</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18560636"">18560636</a>
 著者        Schweiger F, Kuhn M
 タイトル      Dicrocoelium dendriticum infection in a patient with Crohn's disease.
 雑誌        Can J Gastroenterol 22:571-3 (2008)
 DOI:<a href=""https://doi.org/10.1155/2008/912791"">10.1155/2008/912791</a>"
H02410,"骨髄異形成/骨髄増殖性腫瘍
 下位グループ    慢性骨髄単球性白血病 (CMML) [DS:H02411]
 若年性骨髄単球性白血病 (JMML)
 血小板増多と環状鉄芽球を伴う骨髄異形性/骨髄増殖性腫瘍 (MDS/MPN-RS-T)
 非定型慢性骨髄性白血病、BCR-ABL1陰性 (aCML) [DS:H02412]
 骨髄異形成/骨髄増殖性腫瘍、分類不能 (MDS/MPN-u)",,,"Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). This group includes chronic myelomonocytic leukemia (CMML), its pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic, and transcription gene mutations.",がん,,"DNMT3A (mutation) [HSA:1788] [KO:K17398]
 TET2 (mutation) [HSA:54790] [KO:K24309]
 IDH1 (mutation) [HSA:3417] [KO:K00031]
 IDH2 (mutation) [HSA:3418] [KO:K00031]
 ASXL1 (mutation) [HSA:171023] [KO:K11471]
 EZH2 (mutation) [HSA:2146] [KO:K11430]
 NRAS (mutation) [HSA:4893] [KO:K07828]
 KRAS (mutation) [HSA:3845] [KO:K07827]
 JAK2 (mutation) [HSA:3717] [KO:K04447]
 CBL (mutation) [HSA:867] [KO:K04707]
 SETBP1 (mutation) [HSA:26040] [KO:K23217]
 CSF3R (mutation) [HSA:1441] [KO:K05061]
 PTPN11 (mutation) [HSA:5781] [KO:K07293]
 NF1 (mutation) [HSA:4763] [KO:K08052]
 SF3B1 (mutation) [HSA:23451] [KO:K12828]
 SRSF2 (mutation) [HSA:6427] [KO:K12891]
 U2AF1 (mutation) [HSA:7307] [KO:K12836]
 ZRSR2 (mutation) [HSA:8233] [KO:K24273]
 RUNX1 (mutation) [HSA:861] [KO:K08367]
 CEBPA (mutation) [HSA:1050] [KO:K09055]",,,,,,MeSH: D054437,"PMID:28771058
 著者        Thota S, Gerds AT
 タイトル      Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.
 雑誌        Leuk Lymphoma 59:803-812 (2018)
 DOI:10.1080/10428194.2017.1357179
 PMID:19996113
 著者        Reiter A, Invernizzi R, Cross NC, Cazzola M
 タイトル      Molecular basis of myelodysplastic/myeloproliferative neoplasms.
 雑誌        Haematologica 94:1634-8 (2009)
 DOI:10.3324/haematol.2009.014001
 PMID:30555034
 著者        Smith BN, Savona M, Komrokji RS
 タイトル      Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).
 雑誌        Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
 DOI:10.1016/j.clml.2018.11.019
 PMID:28642604
 著者        Deininger MWN, Tyner JW, Solary E
 タイトル      Turning the tide in myelodysplastic/myeloproliferative neoplasms.
 雑誌        Nat Rev Cancer 17:425-440 (2017)
 DOI:10.1038/nrc.2017.40
 PMID:25212680
 著者        Zoi K, Cross NC
 タイトル      Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
 雑誌        Int J Hematol 101:229-42 (2015)
 DOI:10.1007/s12185-014-1670-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02410"">H02410</a>","骨髄異形成/骨髄増殖性腫瘍
 下位グループ    慢性骨髄単球性白血病 (CMML) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02411"">H02411</a>]
 若年性骨髄単球性白血病 (JMML)
 血小板増多と環状鉄芽球を伴う骨髄異形性/骨髄増殖性腫瘍 (MDS/MPN-RS-T)
 非定型慢性骨髄性白血病、BCR-ABL1陰性 (aCML) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02412"">H02412</a>]
 骨髄異形成/骨髄増殖性腫瘍、分類不能 (MDS/MPN-u)","Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01481"">H01481</a>] and myeloproliferative neoplasms (MPN). This group includes chronic myelomonocytic leukemia (CMML), its pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic, and transcription gene mutations.",,"DNMT3A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]
 TET2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54790"">54790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24309"">K24309</a>]
 IDH1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3417"">3417</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 IDH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3418"">3418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]
 ASXL1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:171023"">171023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]
 EZH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]
 NRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 KRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 JAK2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 CBL (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]
 SETBP1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26040"">26040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23217"">K23217</a>]
 CSF3R (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1441"">1441</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05061"">K05061</a>]
 PTPN11 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]
 NF1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]
 SF3B1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23451"">23451</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12828"">K12828</a>]
 SRSF2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6427"">6427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12891"">K12891</a>]
 U2AF1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7307"">7307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12836"">K12836</a>]
 ZRSR2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8233"">8233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24273"">K24273</a>]
 RUNX1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 CEBPA (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1050"">1050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09055"">K09055</a>]",,,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054437"">D054437</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28771058"">28771058</a>
 著者        Thota S, Gerds AT
 タイトル      Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.
 雑誌        Leuk Lymphoma 59:803-812 (2018)
 DOI:<a href=""https://doi.org/10.1080/10428194.2017.1357179"">10.1080/10428194.2017.1357179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19996113"">19996113</a>
 著者        Reiter A, Invernizzi R, Cross NC, Cazzola M
 タイトル      Molecular basis of myelodysplastic/myeloproliferative neoplasms.
 雑誌        Haematologica 94:1634-8 (2009)
 DOI:<a href=""https://doi.org/10.3324/haematol.2009.014001"">10.3324/haematol.2009.014001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30555034"">30555034</a>
 著者        Smith BN, Savona M, Komrokji RS
 タイトル      Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).
 雑誌        Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.clml.2018.11.019"">10.1016/j.clml.2018.11.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28642604"">28642604</a>
 著者        Deininger MWN, Tyner JW, Solary E
 タイトル      Turning the tide in myelodysplastic/myeloproliferative neoplasms.
 雑誌        Nat Rev Cancer 17:425-440 (2017)
 DOI:<a href=""https://doi.org/10.1038/nrc.2017.40"">10.1038/nrc.2017.40</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25212680"">25212680</a>
 著者        Zoi K, Cross NC
 タイトル      Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
 雑誌        Int J Hematol 101:229-42 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12185-014-1670-3"">10.1007/s12185-014-1670-3</a>"
H02411,"慢性骨髄単球性白血病
 上位グループ    骨髄異形成/骨髄増殖性腫瘍 [DS:H02410]",,,"Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping features of myelodysplastic syndromes (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). Gene mutations are seen in >90% of patients, with common abnormalities involving; epigenetic regulators (TET2  -60% and ASXL1 -40%), spliceosome components (SRSF2 -50%), transcription factors (RUNX1 -15%) and cell signaling (RAS -30%, CBL -15%).",がん,,"TET2 (mutation) [HSA:54790] [KO:K24309]
 ASXL1 (mutation) [HSA:171023] [KO:K11471]
 SRSF2 (mutation) [HSA:6427] [KO:K12891]
 NRAS (mutation) [HSA:4893] [KO:K07828]
 KRAS (mutation) [HSA:3845] [KO:K07827]
 CBL (mutation) [HSA:867] [KO:K04707]
 RUNX1 (mutation) [HSA:861] [KO:K08367]
 SF3B1 (mutation) [HSA:23451] [KO:K12828]
 ZRSR2 (mutation) [HSA:8233] [KO:K24273]
 U2AF1 (mutation) [HSA:7307] [KO:K12836]
 DNMT3A (mutation) [HSA:1788] [KO:K17398]
 EZH2 (mutation) [HSA:2146] [KO:K11430]
 TP53 (mutation) [HSA:7157] [KO:K04451]
 NPM1 (mutation) [HSA:4869] [KO:K11276]
 JAK2 (mutation) [HSA:3717] [KO:K04447]
 FLT3 (mutation) [HSA:2322] [KO:K05092]",,,,,,"ICD-11: 2A40
 MeSH: D015477","PMID:29878489
 著者        Patnaik MM, Tefferi A
 タイトル      Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management.
 雑誌        Am J Hematol 93:824-840 (2018)
 DOI:10.1002/ajh.25104
 PMID:27185207
 著者        Patnaik MM, Tefferi A
 タイトル      Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management.
 雑誌        Am J Hematol 91:631-42 (2016)
 DOI:10.1002/ajh.24396
 PMID:26849014
 著者        Patnaik MM, Tefferi A
 タイトル      Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia.
 雑誌        Blood Cancer J 6:e393 (2016)
 DOI:10.1038/bcj.2016.5
 PMID:30311069
 著者        Loghavi S, Khoury JD
 タイトル      Recent Updates on Chronic Myelomonocytic Leukemia.
 雑誌        Curr Hematol Malig Rep 13:446-454 (2018)
 DOI:10.1007/s11899-018-0475-5
 PMID:28771058
 著者        Thota S, Gerds AT
 タイトル      Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.
 雑誌        Leuk Lymphoma 59:803-812 (2018)
 DOI:10.1080/10428194.2017.1357179
 PMID:19996113
 著者        Reiter A, Invernizzi R, Cross NC, Cazzola M
 タイトル      Molecular basis of myelodysplastic/myeloproliferative neoplasms.
 雑誌        Haematologica 94:1634-8 (2009)
 DOI:10.3324/haematol.2009.014001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02411"">H02411</a>","慢性骨髄単球性白血病
 上位グループ    骨髄異形成/骨髄増殖性腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02410"">H02410</a>]","Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping features of myelodysplastic syndromes (MDS) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01481"">H01481</a>] and myeloproliferative neoplasms (MPN). Gene mutations are seen in >90% of patients, with common abnormalities involving; epigenetic regulators (TET2  -60% and ASXL1 -40%), spliceosome components (SRSF2 -50%), transcription factors (RUNX1 -15%) and cell signaling (RAS -30%, CBL -15%).",,"TET2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54790"">54790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24309"">K24309</a>]
 ASXL1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:171023"">171023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]
 SRSF2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6427"">6427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12891"">K12891</a>]
 NRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 KRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 CBL (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]
 RUNX1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 SF3B1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23451"">23451</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12828"">K12828</a>]
 ZRSR2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8233"">8233</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24273"">K24273</a>]
 U2AF1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7307"">7307</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12836"">K12836</a>]
 DNMT3A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1788"">1788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17398"">K17398</a>]
 EZH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]
 TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 NPM1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4869"">4869</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11276"">K11276</a>]
 JAK2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 FLT3 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2322"">2322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05092"">K05092</a>]",,,,,,"ICD-11: 2A40
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015477"">D015477</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29878489"">29878489</a>
 著者        Patnaik MM, Tefferi A
 タイトル      Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management.
 雑誌        Am J Hematol 93:824-840 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajh.25104"">10.1002/ajh.25104</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27185207"">27185207</a>
 著者        Patnaik MM, Tefferi A
 タイトル      Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management.
 雑誌        Am J Hematol 91:631-42 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajh.24396"">10.1002/ajh.24396</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26849014"">26849014</a>
 著者        Patnaik MM, Tefferi A
 タイトル      Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia.
 雑誌        Blood Cancer J 6:e393 (2016)
 DOI:<a href=""https://doi.org/10.1038/bcj.2016.5"">10.1038/bcj.2016.5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30311069"">30311069</a>
 著者        Loghavi S, Khoury JD
 タイトル      Recent Updates on Chronic Myelomonocytic Leukemia.
 雑誌        Curr Hematol Malig Rep 13:446-454 (2018)
 DOI:<a href=""https://doi.org/10.1007/s11899-018-0475-5"">10.1007/s11899-018-0475-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28771058"">28771058</a>
 著者        Thota S, Gerds AT
 タイトル      Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.
 雑誌        Leuk Lymphoma 59:803-812 (2018)
 DOI:<a href=""https://doi.org/10.1080/10428194.2017.1357179"">10.1080/10428194.2017.1357179</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19996113"">19996113</a>
 著者        Reiter A, Invernizzi R, Cross NC, Cazzola M
 タイトル      Molecular basis of myelodysplastic/myeloproliferative neoplasms.
 雑誌        Haematologica 94:1634-8 (2009)
 DOI:<a href=""https://doi.org/10.3324/haematol.2009.014001"">10.3324/haematol.2009.014001</a>"
H02412,"非定型慢性骨髄性白血病
 上位グループ    骨髄異形成/骨髄増殖性腫瘍 [DS:H02410]",,,"Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient outcomes. aCML is dominated by mutations in SETBP1, granulocyte colony-stimulating factor 3 receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes including NRAS, IDH2, and CBL have recently been described in aCML at lower frequencies.",がん,,"SETBP1 (mutation) [HSA:26040] [KO:K23217]
 NRAS (mutation) [HSA:4893] [KO:K07828]
 KRAS (mutation) [HSA:3845] [KO:K07827]
 JAK2 (mutation) [HSA:3717] [KO:K04447]
 CSF3R (mutation) [HSA:1441] [KO:K05061]
 ASXL1 (mutation) [HSA:171023] [KO:K11471]
 ETNK1 (mutation) [HSA:55500] [KO:K00894]
 TET2 (mutation) [HSA:54790] [KO:K24309]
 SRSF2 (mutation) [HSA:6427] [KO:K12891]
 EZH2 (mutation) [HSA:2146] [KO:K11430]
 RUNX1 (mutation) [HSA:861] [KO:K08367]
 CBL (mutation) [HSA:867] [KO:K04707]
 FLT3 (mutation) [HSA:2322] [KO:K05092]
 CEBPA (mutation) [HSA:1050] [KO:K09055]
 IDH2 (mutation) [HSA:3418] [KO:K00031]",,,,,,"ICD-11: 2A41 XH21X5 XH26U9
 MeSH: D054438","PMID:30078497
 著者        Schwartz LC, Mascarenhas J
 タイトル      Current and evolving understanding of atypical chronic myeloid leukemia.
 雑誌        Blood Rev 33:74-81 (2019)
 DOI:10.1016/j.blre.2018.07.004
 PMID:25212680
 著者        Zoi K, Cross NC
 タイトル      Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
 雑誌        Int J Hematol 101:229-42 (2015)
 DOI:10.1007/s12185-014-1670-3
 PMID:22289493
 著者        Muramatsu H, Makishima H, Maciejewski JP
 タイトル      Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions.
 雑誌        Semin Oncol 39:67-73 (2012)
 DOI:10.1053/j.seminoncol.2011.11.004
 PMID:28642604
 著者        Deininger MWN, Tyner JW, Solary E
 タイトル      Turning the tide in myelodysplastic/myeloproliferative neoplasms.
 雑誌        Nat Rev Cancer 17:425-440 (2017)
 DOI:10.1038/nrc.2017.40
 PMID:23896413
 著者        Gotlib J, Maxson JE, George TI, Tyner JW
 タイトル      The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment.
 雑誌        Blood 122:1707-11 (2013)
 DOI:10.1182/blood-2013-05-500959
 PMID:30555034
 著者        Smith BN, Savona M, Komrokji RS
 タイトル      Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).
 雑誌        Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
 DOI:10.1016/j.clml.2018.11.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02412"">H02412</a>","非定型慢性骨髄性白血病
 上位グループ    骨髄異形成/骨髄増殖性腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02410"">H02410</a>]","Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient outcomes. aCML is dominated by mutations in SETBP1, granulocyte colony-stimulating factor 3 receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes including NRAS, IDH2, and CBL have recently been described in aCML at lower frequencies.",,"SETBP1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26040"">26040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23217"">K23217</a>]
 NRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]
 KRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 JAK2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3717"">3717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04447"">K04447</a>]
 CSF3R (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1441"">1441</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05061"">K05061</a>]
 ASXL1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:171023"">171023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]
 ETNK1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55500"">55500</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00894"">K00894</a>]
 TET2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54790"">54790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24309"">K24309</a>]
 SRSF2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6427"">6427</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12891"">K12891</a>]
 EZH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]
 RUNX1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:861"">861</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08367"">K08367</a>]
 CBL (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]
 FLT3 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2322"">2322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05092"">K05092</a>]
 CEBPA (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1050"">1050</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09055"">K09055</a>]
 IDH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3418"">3418</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00031"">K00031</a>]",,,,,,"ICD-11: 2A41 XH21X5 XH26U9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054438"">D054438</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30078497"">30078497</a>
 著者        Schwartz LC, Mascarenhas J
 タイトル      Current and evolving understanding of atypical chronic myeloid leukemia.
 雑誌        Blood Rev 33:74-81 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.blre.2018.07.004"">10.1016/j.blre.2018.07.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25212680"">25212680</a>
 著者        Zoi K, Cross NC
 タイトル      Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
 雑誌        Int J Hematol 101:229-42 (2015)
 DOI:<a href=""https://doi.org/10.1007/s12185-014-1670-3"">10.1007/s12185-014-1670-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22289493"">22289493</a>
 著者        Muramatsu H, Makishima H, Maciejewski JP
 タイトル      Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions.
 雑誌        Semin Oncol 39:67-73 (2012)
 DOI:<a href=""https://doi.org/10.1053/j.seminoncol.2011.11.004"">10.1053/j.seminoncol.2011.11.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28642604"">28642604</a>
 著者        Deininger MWN, Tyner JW, Solary E
 タイトル      Turning the tide in myelodysplastic/myeloproliferative neoplasms.
 雑誌        Nat Rev Cancer 17:425-440 (2017)
 DOI:<a href=""https://doi.org/10.1038/nrc.2017.40"">10.1038/nrc.2017.40</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23896413"">23896413</a>
 著者        Gotlib J, Maxson JE, George TI, Tyner JW
 タイトル      The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment.
 雑誌        Blood 122:1707-11 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-05-500959"">10.1182/blood-2013-05-500959</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30555034"">30555034</a>
 著者        Smith BN, Savona M, Komrokji RS
 タイトル      Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).
 雑誌        Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.clml.2018.11.019"">10.1016/j.clml.2018.11.019</a>"
H02413,"流行性筋痛症;
 流行性胸痛症;
 ボルンホルム病
 上位グループ    エンテロウイルス感染症 [DS:H00393]",,,"Epidemic myalgia, also known as epidemic pleurodynia or Bornholm disease, is an infectious disease caused by group B coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses. It was first described in 1872 in Bamble, Norway. Group B coxsackieviruses are transmitted via the fecal-oral route.",感染症,,,Group B coxsackieviruses,,,,,"ICD-11: 1D83
 MeSH: D011000","PMID:15420445
 著者        HOPKINS JH
 タイトル      Bornholm disease.
 雑誌        Br Med J 1:1230-2 (1950)
 DOI:10.1136/bmj.1.4664.1230
 著者        Waldman SD.
 タイトル      Atlas of Uncommon Pain Syndromes (Third Edition)
 雑誌        Elsevier (2014)
 DOI:10.1016/C2011-0-69791-1
 著者        Ivan Y, Kelly BP.
 タイトル      Bornholm Disease: Case Report and a Review of the Literature.
 雑誌        Infect Dis Clin Pract 22:75-77 (2014)
 DOI:10.1097/IPC.0b013e318298b611","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02413"">H02413</a>","流行性筋痛症;
 流行性胸痛症;
 ボルンホルム病
 上位グループ    エンテロウイルス感染症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00393"">H00393</a>]","Epidemic myalgia, also known as epidemic pleurodynia or Bornholm disease, is an infectious disease caused by group B coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses. It was first described in 1872 in Bamble, Norway. Group B coxsackieviruses are transmitted via the fecal-oral route.",,,Group B coxsackieviruses,,,,,"ICD-11: 1D83
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D011000"">D011000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15420445"">15420445</a>
 著者        HOPKINS JH
 タイトル      Bornholm disease.
 雑誌        Br Med J 1:1230-2 (1950)
 DOI:<a href=""https://doi.org/10.1136/bmj.1.4664.1230"">10.1136/bmj.1.4664.1230</a>
 著者        Waldman SD.
 タイトル      Atlas of Uncommon Pain Syndromes (Third Edition)
 雑誌        Elsevier (2014)
 DOI:<a href=""https://doi.org/10.1016/C2011-0-69791-1"">10.1016/C2011-0-69791-1</a>
 著者        Ivan Y, Kelly BP.
 タイトル      Bornholm Disease: Case Report and a Review of the Literature.
 雑誌        Infect Dis Clin Pract 22:75-77 (2014)
 DOI:<a href=""https://doi.org/10.1097/IPC.0b013e318298b611"">10.1097/IPC.0b013e318298b611</a>"
H02414,自己炎症性疾患・脂肪織炎および皮膚疾患症候群,,,"Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency.",免疫系疾患,,OTULIN [HSA:90268] [KO:K18343],,,,,,"ICD-11: 4A60.Y
 OMIM: 617099","PMID:27523608
 著者        Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D
 タイトル      The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
 雑誌        Cell 166:1215-1230.e20 (2016)
 DOI:10.1016/j.cell.2016.07.019
 PMID:27559085
 著者        Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Guzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Ozen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I
 タイトル      Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
 雑誌        Proc Natl Acad Sci U S A 113:10127-32 (2016)
 DOI:10.1073/pnas.1612594113","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02414"">H02414</a>",自己炎症性疾患・脂肪織炎および皮膚疾患症候群,"Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency.",,"OTULIN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90268"">90268</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18343"">K18343</a>]",,,,,,"ICD-11: 4A60.Y
 OMIM: <a href=""https://www.omim.org/entry/617099"">617099</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27523608"">27523608</a>
 著者        Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D
 タイトル      The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
 雑誌        Cell 166:1215-1230.e20 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2016.07.019"">10.1016/j.cell.2016.07.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27559085"">27559085</a>
 著者        Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Guzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Ozen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I
 タイトル      Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
 雑誌        Proc Natl Acad Sci U S A 113:10127-32 (2016)
 DOI:<a href=""https://doi.org/10.1073/pnas.1612594113"">10.1073/pnas.1612594113</a>"
H02415,頭蓋顔面異形症・骨格異常・精神遅滞症候群,,,"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested.",先天奇形,,TMCO1 [HSA:54499] [KO:K21891],,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: 213980","PMID:24194475
 著者        Alanay Y, Erguner B, Utine E, Hacariz O, Kiper PO, Taskiran EZ, Percin F, Uz E, Sagiroglu MS, Yuksel B, Boduroglu K, Akarsu NA
 タイトル      TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
 雑誌        Am J Med Genet A 164A:291-304 (2014)
 DOI:10.1002/ajmg.a.36248
 PMID:20018682
 著者        Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H
 タイトル      Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
 雑誌        Proc Natl Acad Sci U S A 107:258-63 (2010)
 DOI:10.1073/pnas.0908457107","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02415"">H02415</a>",頭蓋顔面異形症・骨格異常・精神遅滞症候群,"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested.",,"TMCO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54499"">54499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21891"">K21891</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: <a href=""https://www.omim.org/entry/213980"">213980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24194475"">24194475</a>
 著者        Alanay Y, Erguner B, Utine E, Hacariz O, Kiper PO, Taskiran EZ, Percin F, Uz E, Sagiroglu MS, Yuksel B, Boduroglu K, Akarsu NA
 タイトル      TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
 雑誌        Am J Med Genet A 164A:291-304 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36248"">10.1002/ajmg.a.36248</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20018682"">20018682</a>
 著者        Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H
 タイトル      Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
 雑誌        Proc Natl Acad Sci U S A 107:258-63 (2010)
 DOI:<a href=""https://doi.org/10.1073/pnas.0908457107"">10.1073/pnas.0908457107</a>"
H02416,Cimicosis,,,"Cimicosis is an ectoparasitosis caused by the bite of bed bugs, belonging to the family Cimicidae. Although the Cimicidae comprises more than 90 species, only two species, Cimex lectularius and C. hemipterus, readily feed on humans. Evidence for disease transmission by this blood-sucking insect is lacking.",感染症,,,"Cimex lectularius [GN:clec]
 Cimex hemipterus",,,,"With increased international travel, pesticide resistance, and the banning of DDT [CPD:C04623] in the last decade, bedbugs have reemerged worldwide.",ICD-11: 1G06,"PMID:19336711
 著者        Goddard J, deShazo R
 タイトル      Bed bugs (Cimex lectularius) and clinical consequences of their bites.
 雑誌        JAMA 301:1358-66 (2009)
 DOI:10.1001/jama.2009.405
 PMID:21412594
 著者        Criado PR, Belda Junior W, Criado RF, Vasconcelos e Silva R, Vasconcellos C
 タイトル      Bedbugs (Cimicidae infestation): the worldwide renaissance of an old partner of human kind.
 雑誌        Braz J Infect Dis 15:74-80 (2011)
 DOI:10.1016/s1413-8670(11)70144-1
 著者        Rahlenbeck S, Utikal J, Doggett S.
 タイトル      On the rise worlwide: Bed Bugs and Cimicosis
 雑誌        British Journal of Medical Practitioners, September 9 (2016)
 PMID:28322676
 著者        Ibrahim O, Syed UM, Tomecki KJ
 タイトル      Bedbugs: Helping your patient through an infestation.
 雑誌        Cleve Clin J Med 84:207-211 (2017)
 DOI:10.3949/ccjm.84a.15024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02416"">H02416</a>",Cimicosis,"Cimicosis is an ectoparasitosis caused by the bite of bed bugs, belonging to the family Cimicidae. Although the Cimicidae comprises more than 90 species, only two species, Cimex lectularius and C. hemipterus, readily feed on humans. Evidence for disease transmission by this blood-sucking insect is lacking.",,,"Cimex lectularius [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:clec"">clec</a>]
 Cimex hemipterus",,,,"With increased international travel, pesticide resistance, and the banning of DDT [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C04623"">C04623</a>] in the last decade, bedbugs have reemerged worldwide.",ICD-11: 1G06,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19336711"">19336711</a>
 著者        Goddard J, deShazo R
 タイトル      Bed bugs (Cimex lectularius) and clinical consequences of their bites.
 雑誌        JAMA 301:1358-66 (2009)
 DOI:<a href=""https://doi.org/10.1001/jama.2009.405"">10.1001/jama.2009.405</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21412594"">21412594</a>
 著者        Criado PR, Belda Junior W, Criado RF, Vasconcelos e Silva R, Vasconcellos C
 タイトル      Bedbugs (Cimicidae infestation): the worldwide renaissance of an old partner of human kind.
 雑誌        Braz J Infect Dis 15:74-80 (2011)
 DOI:<a href=""https://doi.org/10.1016/s1413-8670(11)70144-1"">10.1016/s1413-8670(11)70144-1</a>
 著者        Rahlenbeck S, Utikal J, Doggett S.
 タイトル      On the rise worlwide: Bed Bugs and Cimicosis
 雑誌        British Journal of Medical Practitioners, September 9 (2016)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28322676"">28322676</a>
 著者        Ibrahim O, Syed UM, Tomecki KJ
 タイトル      Bedbugs: Helping your patient through an infestation.
 雑誌        Cleve Clin J Med 84:207-211 (2017)
 DOI:<a href=""https://doi.org/10.3949/ccjm.84a.15024"">10.3949/ccjm.84a.15024</a>"
H02417,多毛症を伴う歯肉増殖症,,,Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age of an individual and is independent of androgen stimulation. It has been reported that mutations in the cholesterol transporter gene ABCA5 are associated with this disease.,先天奇形,,ABCA5 [HSA:23461] [KO:K05648],,,,,,"ICD-11: LD27.0Y
 ICD-10: L68.8
 MeSH: C565016
 OMIM: 135400","PMID:12503107
 著者        Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero Mdel C, Rodriguez-Asbun H
 タイトル      Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
 雑誌        Am J Med Genet A 116A:278-83 (2003)
 DOI:10.1002/ajmg.a.10883
 PMID:24831815
 著者        DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM
 タイトル      Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
 雑誌        PLoS Genet 10:e1004333 (2014)
 DOI:10.1371/journal.pgen.1004333","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02417"">H02417</a>",多毛症を伴う歯肉増殖症,Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age of an individual and is independent of androgen stimulation. It has been reported that mutations in the cholesterol transporter gene ABCA5 are associated with this disease.,,"ABCA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23461"">23461</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05648"">K05648</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: L68.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565016"">C565016</a>
 OMIM: <a href=""https://www.omim.org/entry/135400"">135400</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12503107"">12503107</a>
 著者        Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero Mdel C, Rodriguez-Asbun H
 タイトル      Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
 雑誌        Am J Med Genet A 116A:278-83 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.10883"">10.1002/ajmg.a.10883</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24831815"">24831815</a>
 著者        DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM
 タイトル      Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
 雑誌        PLoS Genet 10:e1004333 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004333"">10.1371/journal.pgen.1004333</a>"
H02418,"非ホジキンリンパ腫
 下位グループ    慢性リンパ性白血病 [DS:H00005]
 リンパ形質細胞性リンパ腫 [DS:H00011]
 有毛細胞白血病 [DS:H00006]
 濾胞性リンパ腫 [DS:H01613]
 マントル細胞リンパ腫 [DS:H01464]
 バーキットリンパ腫 [DS:H00008]
 末梢性T細胞リンパ腫 [DS:H01892]
 B細胞急性リンパ性白血病 [DS:H00001]
 菌状息肉腫 [DS:H01463]
 未分化大細胞リンパ腫 [DS:H01601]
 びまん性大細胞型Ｂ細胞リンパ腫、非特定 [DS:H02434]",,,"Non-Hodgkin lymphoma (NHL) is one of the most common hematologic malignancies worldwide. NHL includes malignant tumors of the lymphoid tissues variously resulting from the clonal growth of B cells, T cells and natural killer cells. NHL can be broadly classified based on the type of lymphocyte involved: B lymphocyte (B cell) or T lymphocyte (T cell) and is further classified by other factors, including whether it is aggressive or indolent. Aggressive NHL is fast-growing disease. It mainly includes mantle cell lymphoma, diffuse large B-cell lymphoma, Burkitt's lymphoma, lymphoblastic lymphoma and peripheral T-cell lymphoma. On the other hand, indolent NHL is slow-growing disease. It mainly includes follicular lymphoma, cutaneous T-cell lymphoma, lymphoplasmacytic lymphoma and MALT lymphoma.",がん,,"RAD54L [HSA:8438] [KO:K10875]
 RAD54B [HSA:25788] [KO:K10877]
 CASP10 [HSA:843] [KO:K04400]
 PRF1 [HSA:5551] [KO:K07818]",,,,"イリノテカン塩酸塩水和物 [DR:D01061]
 リソカブタゲンマラルユーセル [DR:D11990]",,"ICD-11: 2B33.5
 ICD-10: C82 C83 C84 C91
 MeSH: D008228
 OMIM: 605027","PMID:10362365 (RAD54L)
 著者        Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
 タイトル      Mutations in the RAD54 recombination gene in primary cancers.
 雑誌        Oncogene 18:3427-30 (1999)
 DOI:10.1038/sj.onc.1202692
 PMID:10362364 (RAD54B)
 著者        Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K
 タイトル      Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer.
 雑誌        Oncogene 18:3422-6 (1999)
 DOI:10.1038/sj.onc.1202691
 PMID:12010812 (CASP10)
 著者        Shin MS, Kim HS, Kang CS, Park WS, Kim SY, Lee SN, Lee JH, Park JY, Jang JJ, Kim CW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.
 雑誌        Blood 99:4094-9 (2002)
 DOI:10.1182/blood.v99.11.4094
 PMID:15728124 (PRF1)
 著者        Clementi R, Locatelli F, Dupre L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, Pession A, Ramenghi U, Maccario R, Arico M, Roncarolo MG
 タイトル      A proportion of patients with lymphoma may harbor mutations of the perforin gene.
 雑誌        Blood 105:4424-8 (2005)
 DOI:10.1182/blood-2004-04-1477","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>","非ホジキンリンパ腫
 下位グループ    慢性リンパ性白血病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00005"">H00005</a>]
 リンパ形質細胞性リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00011"">H00011</a>]
 有毛細胞白血病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00006"">H00006</a>]
 濾胞性リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01613"">H01613</a>]
 マントル細胞リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01464"">H01464</a>]
 バーキットリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00008"">H00008</a>]
 末梢性T細胞リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01892"">H01892</a>]
 B細胞急性リンパ性白血病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00001"">H00001</a>]
 菌状息肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01463"">H01463</a>]
 未分化大細胞リンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01601"">H01601</a>]
 びまん性大細胞型Ｂ細胞リンパ腫、非特定 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02434"">H02434</a>]","Non-Hodgkin lymphoma (NHL) is one of the most common hematologic malignancies worldwide. NHL includes malignant tumors of the lymphoid tissues variously resulting from the clonal growth of B cells, T cells and natural killer cells. NHL can be broadly classified based on the type of lymphocyte involved: B lymphocyte (B cell) or T lymphocyte (T cell) and is further classified by other factors, including whether it is aggressive or indolent. Aggressive NHL is fast-growing disease. It mainly includes mantle cell lymphoma, diffuse large B-cell lymphoma, Burkitt's lymphoma, lymphoblastic lymphoma and peripheral T-cell lymphoma. On the other hand, indolent NHL is slow-growing disease. It mainly includes follicular lymphoma, cutaneous T-cell lymphoma, lymphoplasmacytic lymphoma and MALT lymphoma.",,"RAD54L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8438"">8438</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10875"">K10875</a>]
 RAD54B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25788"">25788</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10877"">K10877</a>]
 CASP10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:843"">843</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04400"">K04400</a>]
 PRF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5551"">5551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07818"">K07818</a>]",,,,"イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 リソカブタゲンマラルユーセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11990"">D11990</a>]",,"ICD-11: 2B33.5
 ICD-10: C82 C83 C84 C91
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008228"">D008228</a>
 OMIM: <a href=""https://www.omim.org/entry/605027"">605027</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10362365"">10362365</a> (RAD54L)
 著者        Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
 タイトル      Mutations in the RAD54 recombination gene in primary cancers.
 雑誌        Oncogene 18:3427-30 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1202692"">10.1038/sj.onc.1202692</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10362364"">10362364</a> (RAD54B)
 著者        Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K
 タイトル      Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer.
 雑誌        Oncogene 18:3422-6 (1999)
 DOI:<a href=""https://doi.org/10.1038/sj.onc.1202691"">10.1038/sj.onc.1202691</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12010812"">12010812</a> (CASP10)
 著者        Shin MS, Kim HS, Kang CS, Park WS, Kim SY, Lee SN, Lee JH, Park JY, Jang JJ, Kim CW, Kim SH, Lee JY, Yoo NJ, Lee SH
 タイトル      Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.
 雑誌        Blood 99:4094-9 (2002)
 DOI:<a href=""https://doi.org/10.1182/blood.v99.11.4094"">10.1182/blood.v99.11.4094</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15728124"">15728124</a> (PRF1)
 著者        Clementi R, Locatelli F, Dupre L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, Pession A, Ramenghi U, Maccario R, Arico M, Roncarolo MG
 タイトル      A proportion of patients with lymphoma may harbor mutations of the perforin gene.
 雑誌        Blood 105:4424-8 (2005)
 DOI:<a href=""https://doi.org/10.1182/blood-2004-04-1477"">10.1182/blood-2004-04-1477</a>"
H02419,血清グリシン濃度正常のグリシン脳症,,,"Glycine encephalopathy [DS:H00191], also known as nonketotic hyperglycinemia (NKH), is characterized by severe neurologic dysfunctions. Recently, some individuals with NKH-like symptoms but lacking the typical elevation of serum glycine have been reported. They carry mutations in the SLC6A9 gene, that encodes glycine transporter (GLYT1). GLYT1 is located predominantly on astrocytes and is essential for the clearance of glycine from the extracellular space and termination of glycinergic neurotransmission.",先天性代謝異常症,,SLC6A9 [HSA:6536] [KO:K05038],,,,,,"ICD-11: 5C50.0
 ICD-10: E72.0
 OMIM: 617301","PMID:27481395
 著者        Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA
 タイトル      Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
 雑誌        Hum Genet 135:1263-1268 (2016)
 DOI:10.1007/s00439-016-1719-x
 PMID:14622582
 著者        Gomeza J, Hulsmann S, Ohno K, Eulenburg V, Szoke K, Richter D, Betz H
 タイトル      Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.
 雑誌        Neuron 40:785-96 (2003)
 DOI:10.1016/s0896-6273(03)00672-x
 PMID:27773429
 著者        Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN
 タイトル      Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
 雑誌        Am J Hum Genet 99:1172-1180 (2016)
 DOI:10.1016/j.ajhg.2016.09.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02419"">H02419</a>",血清グリシン濃度正常のグリシン脳症,"Glycine encephalopathy [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00191],"">H00191],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:known"">known</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:nonketotic"">nonketotic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:hyperglycinemia"">hyperglycinemia</a> (NKH), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:characterized"">characterized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:severe"">severe</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neurologic"">neurologic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dysfunctions."">dysfunctions.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Recently,"">Recently,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:some"">some</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:individuals"">individuals</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:NKH-like"">NKH-like</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:symptoms"">symptoms</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:but"">but</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lacking"">lacking</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:typical"">typical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:elevation"">elevation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:serum"">serum</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glycine"">glycine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:have"">have</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported."">reported.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:They"">They</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:carry"">carry</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:SLC6A9"">SLC6A9</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene,"">gene,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encodes"">encodes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glycine"">glycine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:transporter"">transporter</a> (GLYT1). <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:GLYT1"">GLYT1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:located"">located</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:predominantly"">predominantly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:on"">on</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:astrocytes"">astrocytes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:essential"">essential</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:for"">for</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:clearance"">clearance</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glycine"">glycine</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:from"">from</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:extracellular"">extracellular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:space"">space</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:termination"">termination</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:glycinergic"">glycinergic</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neurotransmission."">neurotransmission.</a>",,"SLC6A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6536"">6536</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05038"">K05038</a>]",,,,,,"ICD-11: 5C50.0
 ICD-10: E72.0
 OMIM: <a href=""https://www.omim.org/entry/617301"">617301</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27481395"">27481395</a>
 著者        Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA
 タイトル      Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
 雑誌        Hum Genet 135:1263-1268 (2016)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1719-x"">10.1007/s00439-016-1719-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14622582"">14622582</a>
 著者        Gomeza J, Hulsmann S, Ohno K, Eulenburg V, Szoke K, Richter D, Betz H
 タイトル      Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.
 雑誌        Neuron 40:785-96 (2003)
 DOI:<a href=""https://doi.org/10.1016/s0896-6273(03)00672-x"">10.1016/s0896-6273(03)00672-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27773429"">27773429</a>
 著者        Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN
 タイトル      Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
 雑誌        Am J Hum Genet 99:1172-1180 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.09.004"">10.1016/j.ajhg.2016.09.004</a>"
H02420,"頭頸部癌
 下位グループ    口腔癌 [DS:H00016]
 唾液腺癌 [DS:H01508]
 中咽頭癌 [DS:H01559]
 喉頭癌 [DS:H00055]
 扁桃癌 [DS:H01509]
 上位グループ    固形腫瘍 [DS:H02421]",,,"Head and neck cancers are a heterogeneous collection of malignancies of the upper aerodigestive tract, salivary glands and thyroid. The most common type of cancer in the head and neck is squamous cell carcinoma. It mainly originates from the mucosal space, which extends from the skull base to the proximal esophagus. The head and neck region is subdivided in the oral cavity, pharynx and larynx. The pharyngeal space contains the nasopharynx, oropharynx and hypopharynx and includes the tonsils, the floor of the mouth and the soft palate. Although head and neck squamous cell carcinoma (HNSCC) is traditionally associated with smoking and alcohol drinking, a growing proportion of head and neck tumors, mainly of the oropharynx, are associated with human papilloma virus (HPV).",がん,,,,,,"フルオロウラシル [DR:D00584]
 テガフール [DR:D01244]
 テガフール・ウラシル [DR:D02131]
 テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
 ブレオマイシン塩酸塩 [DR:D03229]
 ペプロマイシン硫酸塩 [DR:D02063]
 ピラルビシン塩酸塩 [DR:D08386]
 パクリタキセル [DR:D00491]
 ドセタキセル水和物 [DR:D02165]
 ドセタキセル [DR:D07866]
 セツキシマブ [DR:D03455]
 ニボルマブ [DR:D10316]
 ペムブロリズマブ [DR:D10574]
 シスプラチン [DR:D00275]
 カルボプラチン [DR:D01363]
 ネダプラチン [DR:D01416]
 ボロファラン (10B) [DR:D11272]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:D08756]
 セツキシマブサロタロカンナトリウム [DR:D11805]",,"ICD-11: 2B6E.Z 2B68.Z 2B6A.Z 2B69.0 2C23
 ICD-10: C76.0
 MeSH: D000077195","PMID:23320060
 著者        Sadick M, Schoenberg SO, Hoermann K, Sadick H
 タイトル      Current oncologic concepts and emerging techniques for imaging of head and neck squamous cell cancer.
 雑誌        GMS Curr Top Otorhinolaryngol Head Neck Surg 11:Doc08 (2012)
 DOI:10.3205/cto000090
 PMID:31555588
 著者        Economopoulou P, de Bree R, Kotsantis I, Psyrri A
 タイトル      Diagnostic Tumor Markers in Head and Neck Squamous Cell Carcinoma (HNSCC) in the Clinical Setting.
 雑誌        Front Oncol 9:827 (2019)
 DOI:10.3389/fonc.2019.00827","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>","頭頸部癌
 下位グループ    口腔癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00016"">H00016</a>]
 唾液腺癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01508"">H01508</a>]
 中咽頭癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01559"">H01559</a>]
 喉頭癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00055"">H00055</a>]
 扁桃癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01509"">H01509</a>]
 上位グループ    固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Head and neck cancers are a heterogeneous collection of malignancies of the upper aerodigestive tract, salivary glands and thyroid. The most common type of cancer in the head and neck is squamous cell carcinoma. It mainly originates from the mucosal space, which extends from the skull base to the proximal esophagus. The head and neck region is subdivided in the oral cavity, pharynx and larynx. The pharyngeal space contains the nasopharynx, oropharynx and hypopharynx and includes the tonsils, the floor of the mouth and the soft palate. Although head and neck squamous cell carcinoma (HNSCC) is traditionally associated with smoking and alcohol drinking, a growing proportion of head and neck tumors, mainly of the oropharynx, are associated with human papilloma virus (HPV).",,,,,,"フルオロウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00584"">D00584</a>]
 テガフール [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01244"">D01244</a>]
 テガフール・ウラシル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02131"">D02131</a>]
 テガフール・ギメラシル・オテラシルカリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06399"">D06399</a>]
 ブレオマイシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03229"">D03229</a>]
 ペプロマイシン硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02063"">D02063</a>]
 ピラルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08386"">D08386</a>]
 パクリタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00491"">D00491</a>]
 ドセタキセル水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02165"">D02165</a>]
 ドセタキセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07866"">D07866</a>]
 セツキシマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03455"">D03455</a>]
 ニボルマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10316"">D10316</a>]
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>]
 シスプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00275"">D00275</a>]
 カルボプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01363"">D01363</a>]
 ネダプラチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01416"">D01416</a>]
 ボロファラン (10B) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11272"">D11272</a>]
 ストレプトコックス・ピオゲネス（A群3型）Su株ペニシリン処理凍結乾燥粉末 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08756"">D08756</a>]
 セツキシマブサロタロカンナトリウム [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11805"">D11805</a>]",,"ICD-11: 2B6E.Z 2B68.Z 2B6A.Z 2B69.0 2C23
 ICD-10: C76.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000077195"">D000077195</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23320060"">23320060</a>
 著者        Sadick M, Schoenberg SO, Hoermann K, Sadick H
 タイトル      Current oncologic concepts and emerging techniques for imaging of head and neck squamous cell cancer.
 雑誌        GMS Curr Top Otorhinolaryngol Head Neck Surg 11:Doc08 (2012)
 DOI:<a href=""https://doi.org/10.3205/cto000090"">10.3205/cto000090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31555588"">31555588</a>
 著者        Economopoulou P, de Bree R, Kotsantis I, Psyrri A
 タイトル      Diagnostic Tumor Markers in Head and Neck Squamous Cell Carcinoma (HNSCC) in the Clinical Setting.
 雑誌        Front Oncol 9:827 (2019)
 DOI:<a href=""https://doi.org/10.3389/fonc.2019.00827"">10.3389/fonc.2019.00827</a>"
H02421,"固形腫瘍;
 固形癌
 下位グループ    悪性黒色腫 [DS:H00038]
 胆管癌 [DS:H00046]
 消化管間質腫瘍 [DS:H01591]
 非小細胞肺癌 [DS:H00014]
 神経膠腫 [DS:H00042]
 甲状腺癌 [DS:H00032]
 結腸・直腸癌 [DS:H00020]
 ユーイング肉腫 [DS:H00035]
 骨肉腫 [DS:H00036]
 横紋筋肉腫 [DS:H00037]
 カポジ肉腫 [DS:H00041]
 粘液様脂肪肉腫 [DS:H00049]
 滑膜肉腫 [DS:H00050]
 胞巣状軟部肉腫 [DS:H00051]
 明細胞肉腫 [DS:H00052]
 粘液様軟骨肉腫 [DS:H00053]
 肝血管肉腫 [DS:H01557]
 血管肉腫 [DS:H01666]
 頭頸部癌 [DS:H02420]
 膵癌 [DS:H00019]",,,"Cancers can be classified into two broad types: hematological or solid tumors. There are two main types of solid tumors: carcinomas and sarcomas. Most solid tumors are derived from epithelial cells. Carcinomas are tumors that form in epithelial cells. Neoplastic epithelial cells generate aggressive cancers such as those located in the lung, breast, colon, prostate and ovary. Some cancers of the bladder ureters and kidneys are transitional cell carcinomas. Sarcomas are tumors that start in tissues like a blood vessel, bone, fat tissue, ligament, lymph vessel, muscle or tendon. Examples are given as follows: osteosarcoma, chondrosarcoma, rhabdomyosarcoma, leiomyosarcoma and so on.",がん,,,,,,"チオテパ [DR:D00583]
 メルファラン [DR:D00369]
 ノギテカン塩酸塩 [DR:D02168]
 イリノテカン塩酸塩水和物 [DR:D01061]
 ラロトレクチニブ硫酸塩 [DR:D11138] (NTRK融合遺伝子陽性)
 エヌトレクチニブ [DR:D10926] (NTRK融合遺伝子陽性)
 ペムブロリズマブ [DR:D10574] (TMB-high)",,,,"<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>","固形腫瘍;
 固形癌
 下位グループ    悪性黒色腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00038"">H00038</a>]
 胆管癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00046"">H00046</a>]
 消化管間質腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01591"">H01591</a>]
 非小細胞肺癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00014"">H00014</a>]
 神経膠腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00042"">H00042</a>]
 甲状腺癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00032"">H00032</a>]
 結腸・直腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>]
 ユーイング肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00035"">H00035</a>]
 骨肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00036"">H00036</a>]
 横紋筋肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00037"">H00037</a>]
 カポジ肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00041"">H00041</a>]
 粘液様脂肪肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00049"">H00049</a>]
 滑膜肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00050"">H00050</a>]
 胞巣状軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00051"">H00051</a>]
 明細胞肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00052"">H00052</a>]
 粘液様軟骨肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00053"">H00053</a>]
 肝血管肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01557"">H01557</a>]
 血管肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01666"">H01666</a>]
 頭頸部癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02420"">H02420</a>]
 膵癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00019"">H00019</a>]","Cancers can be classified into two broad types: hematological or solid tumors. There are two main types of solid tumors: carcinomas and sarcomas. Most solid tumors are derived from epithelial cells. Carcinomas are tumors that form in epithelial cells. Neoplastic epithelial cells generate aggressive cancers such as those located in the lung, breast, colon, prostate and ovary. Some cancers of the bladder ureters and kidneys are transitional cell carcinomas. Sarcomas are tumors that start in tissues like a blood vessel, bone, fat tissue, ligament, lymph vessel, muscle or tendon. Examples are given as follows: osteosarcoma, chondrosarcoma, rhabdomyosarcoma, leiomyosarcoma and so on.",,,,,,"チオテパ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00583"">D00583</a>]
 メルファラン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00369"">D00369</a>]
 ノギテカン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02168"">D02168</a>]
 イリノテカン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01061"">D01061</a>]
 ラロトレクチニブ硫酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11138"">D11138</a>] (NTRK融合遺伝子陽性)
 エヌトレクチニブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10926"">D10926</a>] (NTRK融合遺伝子陽性)
 ペムブロリズマブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10574"">D10574</a>] (TMB-high)",,,
H02422,骨格奇形を伴う網膜色素変性,,,"Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to severe syndromic forms.",先天奇形,,CWC27 [HSA:10283] [KO:K12737],,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.8
 OMIM: 250410","PMID:7252997
 著者        Phillips CI, Wynne-Davies R, Stokoe NL, Newton M
 タイトル      Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
 雑誌        J Med Genet 18:46-9 (1981)
 DOI:10.1136/jmg.18.1.46
 PMID:28285769
 著者        Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF
 タイトル      Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
 雑誌        Am J Hum Genet 100:592-604 (2017)
 DOI:10.1016/j.ajhg.2017.02.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02422"">H02422</a>",骨格奇形を伴う網膜色素変性,"Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to severe syndromic forms.",,"CWC27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10283"">10283</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12737"">K12737</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/250410"">250410</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7252997"">7252997</a>
 著者        Phillips CI, Wynne-Davies R, Stokoe NL, Newton M
 タイトル      Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
 雑誌        J Med Genet 18:46-9 (1981)
 DOI:<a href=""https://doi.org/10.1136/jmg.18.1.46"">10.1136/jmg.18.1.46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28285769"">28285769</a>
 著者        Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF
 タイトル      Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
 雑誌        Am J Hum Genet 100:592-604 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.02.008"">10.1016/j.ajhg.2017.02.008</a>"
H02423,ケジラミ症,,,"Phthiriasis is the result of infestation by Phthirus pubis (crab louse), sucking lice belonging to the family Pthiridae. Phthirus pubis is transmitted mainly by sexual contact, but it also may be transmitted by clothing or from parents to children.",感染症,,,Pthirus pubis (crab louse),,,,"Dichlorodiphenyltrichloroethane (DDT) [CPD:C04623] powder was the treatment of choice during World War II, but the lice began to show resistance to this pesticide during the 1950s.",ICD-11: 1G03,"PMID:14699358
 著者        Ko CJ, Elston DM
 タイトル      Pediculosis.
 雑誌        J Am Acad Dermatol 50:1-12; quiz 13-4 (2004)
 DOI:10.1016/S0190
 著者        Bope ET, Kellerman RD.
 タイトル      Conn's Current Therapy
 雑誌        Saunders (2012)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02423"">H02423</a>",ケジラミ症,"Phthiriasis is the result of infestation by Phthirus pubis (crab louse), sucking lice belonging to the family Pthiridae. Phthirus pubis is transmitted mainly by sexual contact, but it also may be transmitted by clothing or from parents to children.",,,Pthirus pubis (crab louse),,,,"Dichlorodiphenyltrichloroethane (DDT) [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C04623"">C04623</a>] powder was the treatment of choice during World War II, but the lice began to show resistance to this pesticide during the 1950s.",ICD-11: 1G03,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14699358"">14699358</a>
 著者        Ko CJ, Elston DM
 タイトル      Pediculosis.
 雑誌        J Am Acad Dermatol 50:1-12; quiz 13-4 (2004)
 DOI:<a href=""https://doi.org/10.1016/S0190"">10.1016/S0190</a>
 著者        Bope ET, Kellerman RD.
 タイトル      Conn's Current Therapy
 雑誌        Saunders (2012)"
H02424,"中枢神経系原発悪性リンパ腫
 下位グループ    びまん性大細胞型B細胞リンパ腫
 T細胞リンパ腫
 バーキットリンパ腫 [DS:H00008]",,,"Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; 90%), with the remainder consisting of T-cell lymphomas, poorly characterized low-grade lymphomas, or Burkitt lymphomas. The molecular pathogenesis of PCNSL is now better understood. The B-cell receptor (BCR) signaling axis with its downstream target, NF-kappa B, is affected by frequent recurrent mutations, mainly in MYD88, CD79B and, less frequently, CARD11, and TNFAIP3. Recurring chromosomal losses affect the 6q, 6p21.32 (HLA locus) and 9p21 (CDKN2A locus) regions.",がん,,"MYD88 (mutation) [HSA:4615] [KO:K04729]
 CD79B (mutation) [HSA:974] [KO:K06507]
 CARD11 (mutation) [HSA:84433] [KO:K07367]
 TNFAIP3 (mutation) [HSA:7128] [KO:K11859]
 HLA-DRB5 (deletion) [HSA:3127] [KO:K06752]
 CDKN2A (deletion) [HSA:1029] [KO:K06621]",,,,"チラブルチニブ塩酸塩 [DR:D11070]
 チサゲンレクルユーセル [DR:D11386] (CD19陽性)",,ICD-11: 2A81.5,"PMID:28427529
 著者        Citterio G, Reni M, Gatta G, Ferreri AJM
 タイトル      Primary central nervous system lymphoma.
 雑誌        Crit Rev Oncol Hematol 113:97-110 (2017)
 DOI:10.1016/j.critrevonc.2017.03.019
 PMID:27913504
 著者        Batchelor TT
 タイトル      Primary central nervous system lymphoma.
 雑誌        Hematology Am Soc Hematol Educ Program 2016:379-385 (2016)
 DOI:10.1182/asheducation-2016.1.379
 PMID:28640701
 著者        Grommes C, DeAngelis LM
 タイトル      Primary CNS Lymphoma.
 雑誌        J Clin Oncol 35:2410-2418 (2017)
 DOI:10.1200/JCO.2017.72.7602
 PMID:31187523
 著者        Batchelor TT
 タイトル      Primary central nervous system lymphoma: A curable disease.
 雑誌        Hematol Oncol 37 Suppl 1:15-18 (2019)
 DOI:10.1002/hon.2598
 PMID:24969265
 著者        Phillips EH, Fox CP, Cwynarski K
 タイトル      Primary CNS lymphoma.
 雑誌        Curr Hematol Malig Rep 9:243-53 (2014)
 DOI:10.1007/s11899-014-0217-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02424"">H02424</a>","中枢神経系原発悪性リンパ腫
 下位グループ    びまん性大細胞型B細胞リンパ腫
 T細胞リンパ腫
 バーキットリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00008"">H00008</a>]","Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; 90%), with the remainder consisting of T-cell lymphomas, poorly characterized low-grade lymphomas, or Burkitt lymphomas. The molecular pathogenesis of PCNSL is now better understood. The B-cell receptor (BCR) signaling axis with its downstream target, NF-kappa B, is affected by frequent recurrent mutations, mainly in MYD88, CD79B and, less frequently, CARD11, and TNFAIP3. Recurring chromosomal losses affect the 6q, 6p21.32 (HLA locus) and 9p21 (CDKN2A locus) regions.",,"MYD88 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4615"">4615</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04729"">K04729</a>]
 CD79B (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:974"">974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06507"">K06507</a>]
 CARD11 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84433"">84433</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07367"">K07367</a>]
 TNFAIP3 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7128"">7128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11859"">K11859</a>]
 HLA-DRB5 (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3127"">3127</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06752"">K06752</a>]
 CDKN2A (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]",,,,"チラブルチニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11070"">D11070</a>]
 チサゲンレクルユーセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11386"">D11386</a>] (CD19陽性)",,ICD-11: 2A81.5,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28427529"">28427529</a>
 著者        Citterio G, Reni M, Gatta G, Ferreri AJM
 タイトル      Primary central nervous system lymphoma.
 雑誌        Crit Rev Oncol Hematol 113:97-110 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2017.03.019"">10.1016/j.critrevonc.2017.03.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27913504"">27913504</a>
 著者        Batchelor TT
 タイトル      Primary central nervous system lymphoma.
 雑誌        Hematology Am Soc Hematol Educ Program 2016:379-385 (2016)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2016.1.379"">10.1182/asheducation-2016.1.379</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28640701"">28640701</a>
 著者        Grommes C, DeAngelis LM
 タイトル      Primary CNS Lymphoma.
 雑誌        J Clin Oncol 35:2410-2418 (2017)
 DOI:<a href=""https://doi.org/10.1200/JCO.2017.72.7602"">10.1200/JCO.2017.72.7602</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31187523"">31187523</a>
 著者        Batchelor TT
 タイトル      Primary central nervous system lymphoma: A curable disease.
 雑誌        Hematol Oncol 37 Suppl 1:15-18 (2019)
 DOI:<a href=""https://doi.org/10.1002/hon.2598"">10.1002/hon.2598</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24969265"">24969265</a>
 著者        Phillips EH, Fox CP, Cwynarski K
 タイトル      Primary CNS lymphoma.
 雑誌        Curr Hematol Malig Rep 9:243-53 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11899-014-0217-2"">10.1007/s11899-014-0217-2</a>"
H02425,エルドハイム・チェスター病,,,"Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. Recent studies have described that the etiology of ECD may be associated with the V600E BRAF mutation and an array of other activating mitogen-activated protein kinase (MAPK) pathway mutations, suggesting a critical role of this pathway in the pathogenesis and a possible clonal origin of the disease.",がん,,"BRAF (mutation) [HSA:673] [KO:K04365]
 MAP2K1 (mutation) [HSA:5604] [KO:K04368]
 ARAF (mutation) [HSA:369] [KO:K08845]
 MAP2K2 (mutation) [HSA:5605] [KO:K04369]
 KRAS (mutation) [HSA:3845] [KO:K07827]
 NRAS (mutation) [HSA:4893] [KO:K07828]",,,,,,"ICD-11: 2B31.Y
 MeSH: D031249","PMID:24011030
 著者        Mazor RD, Manevich-Mazor M, Shoenfeld Y
 タイトル      Erdheim-Chester Disease: a comprehensive review of the literature.
 雑誌        Orphanet J Rare Dis 8:137 (2013)
 DOI:10.1186/1750-1172-8-137
 PMID:29192649
 著者        Ozkaya N, Rosenblum MK, Durham BH, Pichardo JD, Abdel-Wahab O, Hameed MR, Busam KJ, Travis WD, Diamond EL, Dogan A
 タイトル      The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.
 雑誌        Mod Pathol 31:581-597 (2018)
 DOI:10.1038/modpathol.2017.160
 PMID:25865950
 著者        Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L
 タイトル      Erdheim-Chester disease.
 雑誌        Eur J Intern Med 26:223-9 (2015)
 DOI:10.1016/j.ejim.2015.03.004
 PMID:25744785
 著者        Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F
 タイトル      Erdheim-Chester disease: a systematic review.
 雑誌        Crit Rev Oncol Hematol 95:1-11 (2015)
 DOI:10.1016/j.critrevonc.2015.02.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02425"">H02425</a>",エルドハイム・チェスター病,"Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. Recent studies have described that the etiology of ECD may be associated with the V600E BRAF mutation and an array of other activating mitogen-activated protein kinase (MAPK) pathway mutations, suggesting a critical role of this pathway in the pathogenesis and a possible clonal origin of the disease.",,"BRAF (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:673"">673</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04365"">K04365</a>]
 MAP2K1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5604"">5604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04368"">K04368</a>]
 ARAF (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:369"">369</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08845"">K08845</a>]
 MAP2K2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5605"">5605</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04369"">K04369</a>]
 KRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3845"">3845</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07827"">K07827</a>]
 NRAS (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4893"">4893</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07828"">K07828</a>]",,,,,,"ICD-11: 2B31.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D031249"">D031249</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24011030"">24011030</a>
 著者        Mazor RD, Manevich-Mazor M, Shoenfeld Y
 タイトル      Erdheim-Chester Disease: a comprehensive review of the literature.
 雑誌        Orphanet J Rare Dis 8:137 (2013)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-8-137"">10.1186/1750-1172-8-137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29192649"">29192649</a>
 著者        Ozkaya N, Rosenblum MK, Durham BH, Pichardo JD, Abdel-Wahab O, Hameed MR, Busam KJ, Travis WD, Diamond EL, Dogan A
 タイトル      The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.
 雑誌        Mod Pathol 31:581-597 (2018)
 DOI:<a href=""https://doi.org/10.1038/modpathol.2017.160"">10.1038/modpathol.2017.160</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25865950"">25865950</a>
 著者        Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L
 タイトル      Erdheim-Chester disease.
 雑誌        Eur J Intern Med 26:223-9 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ejim.2015.03.004"">10.1016/j.ejim.2015.03.004</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25744785"">25744785</a>
 著者        Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F
 タイトル      Erdheim-Chester disease: a systematic review.
 雑誌        Crit Rev Oncol Hematol 95:1-11 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.critrevonc.2015.02.004"">10.1016/j.critrevonc.2015.02.004</a>"
H02426,EDICT 症候群,,,"EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.",先天奇形,,MIR184 [HSA:406960] [KO:K17177],,,,,,"ICD-11: 9A78.5Y
 ICD-10: Q15.8
 OMIM: 614303","PMID:14638698
 著者        Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G
 タイトル      Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
 雑誌        Invest Ophthalmol Vis Sci 44:5063-6 (2003)
 DOI:10.1167/iovs.03-0399
 PMID:22131394
 著者        Iliff BW, Riazuddin SA, Gottsch JD
 タイトル      A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
 雑誌        Invest Ophthalmol Vis Sci 53:348-53 (2012)
 DOI:10.1167/iovs.11-8783","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02426"">H02426</a>",EDICT 症候群,"EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.",,"MIR184 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:406960"">406960</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17177"">K17177</a>]",,,,,,"ICD-11: 9A78.5Y
 ICD-10: Q15.8
 OMIM: <a href=""https://www.omim.org/entry/614303"">614303</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14638698"">14638698</a>
 著者        Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G
 タイトル      Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
 雑誌        Invest Ophthalmol Vis Sci 44:5063-6 (2003)
 DOI:<a href=""https://doi.org/10.1167/iovs.03-0399"">10.1167/iovs.03-0399</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22131394"">22131394</a>
 著者        Iliff BW, Riazuddin SA, Gottsch JD
 タイトル      A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
 雑誌        Invest Ophthalmol Vis Sci 53:348-53 (2012)
 DOI:<a href=""https://doi.org/10.1167/iovs.11-8783"">10.1167/iovs.11-8783</a>"
H02427,"軟部肉腫
 下位グループ    繊維肉腫
 横紋筋肉腫 [DS:H00037]
 平滑筋肉腫
 高分化型脂肪肉腫
 粘液様脂肪肉腫 [DS:H00049]
 円形細胞脂肪肉腫
 多形性脂肪肉腫
 血管肉腫
 カポジ肉腫 [DS:H00041]
 神経繊維肉腫
 悪性末梢神経鞘腫
 滑膜肉腫 [DS:H00050]
 骨外性骨肉腫
 粘液様軟骨肉腫 [DS:H00053]
 ユーイング肉腫 [DS:H00035]
 胞巣状軟部肉腫 [DS:H00051]
 類上皮肉腫
 明細胞肉腫 [DS:H00052]
 血管肉腫 [DS:H01666]
 骨未分化高悪性度多形肉腫",,,"Soft-tissue sarcomas (STS) are a rare and heterogeneous group of tumors with mesenchymal origin, including muscle, endothelium, cartilage. Several common STSs have recognized translocations, which represent clinical targets. In addition to translocations, other genomic changes and epigenetic mechanisms have been shown to be involved in the histogenesis of STS as well as other cancers.",がん,,,,,,"イホスファミド [DR:D00343]
 ドキソルビシン塩酸塩 [DR:D01275]
 トラベクテジン [DR:D06199]
 パゾパニブ塩酸塩 [DR:D05380]
 エリブリンメシル酸塩 [DR:D08914]",,"ICD-11: 2B55 2B5A
 ICD-10: C22.3 C46.1
 MeSH: D012509","PMID:29416168
 著者        Vodanovich DA, M Choong PF
 タイトル      Soft-tissue Sarcomas.
 雑誌        Indian J Orthop 52:35-44 (2018)
 DOI:10.4103/ortho.IJOrtho_220_17
 PMID:27670825
 著者        Soini Y
 タイトル      Epigenetic and genetic changes in soft tissue sarcomas: a review.
 雑誌        APMIS 124:925-934 (2016)
 DOI:10.1111/apm.12600
 PMID:10836012
 著者        Moley JF, Eberlein TJ
 タイトル      Soft-tissue sarcomas.
 雑誌        Surg Clin North Am 80:687-708 (2000)
 DOI:10.1016/s0039-6109(05)70207-3
 PMID:28759137
 著者        Oda Y, Yamamoto H, Kohashi K, Yamada Y, Iura K, Ishii T, Maekawa A, Bekki H
 タイトル      Soft tissue sarcomas: From a morphological to a molecular biological approach.
 雑誌        Pathol Int 67:435-446 (2017)
 DOI:10.1111/pin.12565
 PMID:27434055
 著者        Ratan R, Patel SR
 タイトル      Chemotherapy for soft tissue sarcoma.
 雑誌        Cancer 122:2952-60 (2016)
 DOI:10.1002/cncr.30191
 PMID:30675651
 著者        Meyer M, Seetharam M
 タイトル      First-Line Therapy for Metastatic Soft Tissue Sarcoma.
 雑誌        Curr Treat Options Oncol 20:6 (2019)
 DOI:10.1007/s11864-019-0606-9
 PMID:23908254
 著者        Walczak BE, Irwin RB
 タイトル      Sarcoma chemotherapy.
 雑誌        J Am Acad Orthop Surg 21:480-91 (2013)
 DOI:10.5435/JAAOS-21-08-480
 PMID:27603273
 著者        Wustrack R, Cooper K, Weber K
 タイトル      Molecular Markers in Bone and Soft-Tissue Tumors.
 雑誌        JBJS Rev 4:01874474-201608000-00005 (2016)
 DOI:10.2106/JBJS.RVW.15.00092","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02427"">H02427</a>","軟部肉腫
 下位グループ    繊維肉腫
 横紋筋肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00037"">H00037</a>]
 平滑筋肉腫
 高分化型脂肪肉腫
 粘液様脂肪肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00049"">H00049</a>]
 円形細胞脂肪肉腫
 多形性脂肪肉腫
 血管肉腫
 カポジ肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00041"">H00041</a>]
 神経繊維肉腫
 悪性末梢神経鞘腫
 滑膜肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00050"">H00050</a>]
 骨外性骨肉腫
 粘液様軟骨肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00053"">H00053</a>]
 ユーイング肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00035"">H00035</a>]
 胞巣状軟部肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00051"">H00051</a>]
 類上皮肉腫
 明細胞肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00052"">H00052</a>]
 血管肉腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01666"">H01666</a>]
 骨未分化高悪性度多形肉腫","Soft-tissue sarcomas (STS) are a rare and heterogeneous group of tumors with mesenchymal origin, including muscle, endothelium, cartilage. Several common STSs have recognized translocations, which represent clinical targets. In addition to translocations, other genomic changes and epigenetic mechanisms have been shown to be involved in the histogenesis of STS as well as other cancers.",,,,,,"イホスファミド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00343"">D00343</a>]
 ドキソルビシン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D01275"">D01275</a>]
 トラベクテジン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D06199"">D06199</a>]
 パゾパニブ塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D05380"">D05380</a>]
 エリブリンメシル酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D08914"">D08914</a>]",,"ICD-11: 2B55 2B5A
 ICD-10: C22.3 C46.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012509"">D012509</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29416168"">29416168</a>
 著者        Vodanovich DA, M Choong PF
 タイトル      Soft-tissue Sarcomas.
 雑誌        Indian J Orthop 52:35-44 (2018)
 DOI:<a href=""https://doi.org/10.4103/ortho.IJOrtho_220_17"">10.4103/ortho.IJOrtho_220_17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27670825"">27670825</a>
 著者        Soini Y
 タイトル      Epigenetic and genetic changes in soft tissue sarcomas: a review.
 雑誌        APMIS 124:925-934 (2016)
 DOI:<a href=""https://doi.org/10.1111/apm.12600"">10.1111/apm.12600</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10836012"">10836012</a>
 著者        Moley JF, Eberlein TJ
 タイトル      Soft-tissue sarcomas.
 雑誌        Surg Clin North Am 80:687-708 (2000)
 DOI:<a href=""https://doi.org/10.1016/s0039-6109(05)70207-3"">10.1016/s0039-6109(05)70207-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28759137"">28759137</a>
 著者        Oda Y, Yamamoto H, Kohashi K, Yamada Y, Iura K, Ishii T, Maekawa A, Bekki H
 タイトル      Soft tissue sarcomas: From a morphological to a molecular biological approach.
 雑誌        Pathol Int 67:435-446 (2017)
 DOI:<a href=""https://doi.org/10.1111/pin.12565"">10.1111/pin.12565</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27434055"">27434055</a>
 著者        Ratan R, Patel SR
 タイトル      Chemotherapy for soft tissue sarcoma.
 雑誌        Cancer 122:2952-60 (2016)
 DOI:<a href=""https://doi.org/10.1002/cncr.30191"">10.1002/cncr.30191</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30675651"">30675651</a>
 著者        Meyer M, Seetharam M
 タイトル      First-Line Therapy for Metastatic Soft Tissue Sarcoma.
 雑誌        Curr Treat Options Oncol 20:6 (2019)
 DOI:<a href=""https://doi.org/10.1007/s11864-019-0606-9"">10.1007/s11864-019-0606-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23908254"">23908254</a>
 著者        Walczak BE, Irwin RB
 タイトル      Sarcoma chemotherapy.
 雑誌        J Am Acad Orthop Surg 21:480-91 (2013)
 DOI:<a href=""https://doi.org/10.5435/JAAOS-21-08-480"">10.5435/JAAOS-21-08-480</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27603273"">27603273</a>
 著者        Wustrack R, Cooper K, Weber K
 タイトル      Molecular Markers in Bone and Soft-Tissue Tumors.
 雑誌        JBJS Rev 4:01874474-201608000-00005 (2016)
 DOI:<a href=""https://doi.org/10.2106/JBJS.RVW.15.00092"">10.2106/JBJS.RVW.15.00092</a>"
H02428,"トリコスポロン症
 下位グループ    白色砂毛症
 夏型過敏性肺炎",,,"Trichosporonosis is a rare mycosis caused by various species in the Trichosporon genus. The first description of clinical isolates of Trichosporon spp. was in 1867. This yeast-like pathogen may cause deep-seated, mucosa-associated, or superficial infections. Invasive trichosporonosis is documented mostly in patients with hematological malignancies and other medical conditions associated with immunosuppression. The most common species are Trichosporon cutaneum and T. asahii.",感染症,,,"Trichosporon asahii [GN:tasa]
 Trichosporon cutaneum",,,,,"ICD-11: 1F2D.Y
 MeSH: D060586","PMID:21976604
 著者        Colombo AL, Padovan AC, Chaves GM
 タイトル      Current knowledge of Trichosporon spp. and Trichosporonosis.
 雑誌        Clin Microbiol Rev 24:682-700 (2011)
 DOI:10.1128/CMR.00003-11
 PMID:18568419
 著者        Chagas-Neto TC, Chaves GM, Colombo AL
 タイトル      Update on the genus Trichosporon.
 雑誌        Mycopathologia 166:121-32 (2008)
 DOI:10.1007/s11046-008-9136-x
 PMID:23149350
 著者        Tokimatsu I
 タイトル      [Trichosporonosis].
 雑誌        Med Mycol J 53:169-74 (2012)
 DOI:10.3314/mmj.53.169
 PMID:23621330
 著者        Vazquez-Gonzalez D, Perusquia-Ortiz AM, Hundeiker M, Bonifaz A
 タイトル      Opportunistic yeast infections: candidiasis, cryptococcosis, trichosporonosis and geotrichosis.
 雑誌        J Dtsch Dermatol Ges 11:381-93; quiz 394 (2013)
 DOI:10.1111/ddg.12097","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02428"">H02428</a>","トリコスポロン症
 下位グループ    白色砂毛症
 夏型過敏性肺炎","Trichosporonosis is a rare mycosis caused by various species in the Trichosporon genus. The first description of clinical isolates of Trichosporon spp. was in 1867. This yeast-like pathogen may cause deep-seated, mucosa-associated, or superficial infections. Invasive trichosporonosis is documented mostly in patients with hematological malignancies and other medical conditions associated with immunosuppression. The most common species are Trichosporon cutaneum and T. asahii.",,,"Trichosporon asahii [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:tasa"">tasa</a>]
 Trichosporon cutaneum",,,,,"ICD-11: 1F2D.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D060586"">D060586</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21976604"">21976604</a>
 著者        Colombo AL, Padovan AC, Chaves GM
 タイトル      Current knowledge of Trichosporon spp. and Trichosporonosis.
 雑誌        Clin Microbiol Rev 24:682-700 (2011)
 DOI:<a href=""https://doi.org/10.1128/CMR.00003-11"">10.1128/CMR.00003-11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18568419"">18568419</a>
 著者        Chagas-Neto TC, Chaves GM, Colombo AL
 タイトル      Update on the genus Trichosporon.
 雑誌        Mycopathologia 166:121-32 (2008)
 DOI:<a href=""https://doi.org/10.1007/s11046-008-9136-x"">10.1007/s11046-008-9136-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23149350"">23149350</a>
 著者        Tokimatsu I
 タイトル      [Trichosporonosis].
 雑誌        Med Mycol J 53:169-74 (2012)
 DOI:<a href=""https://doi.org/10.3314/mmj.53.169"">10.3314/mmj.53.169</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23621330"">23621330</a>
 著者        Vazquez-Gonzalez D, Perusquia-Ortiz AM, Hundeiker M, Bonifaz A
 タイトル      Opportunistic yeast infections: candidiasis, cryptococcosis, trichosporonosis and geotrichosis.
 雑誌        J Dtsch Dermatol Ges 11:381-93; quiz 394 (2013)
 DOI:<a href=""https://doi.org/10.1111/ddg.12097"">10.1111/ddg.12097</a>"
H02429,日光角化症,,,"Actinic keratosis (AK) is a common cutaneous lesion associated with chronic exposure to ultraviolet (UV) radiation. AK presents scaly, erythematous papule or plaque and is considered the earliest clinically recognizable manifestation of squamous cell carcinoma.",皮膚疾患,,,,,,イミキモド [DR:D02500],,"ICD-11: EK90.0
 ICD-10: L57.0
 MeSH: D055623
 OMIM: 148390","PMID:27500794
 著者        Siegel JA, Korgavkar K, Weinstock MA
 タイトル      Current perspective on actinic keratosis: a review.
 雑誌        Br J Dermatol 177:350-358 (2017)
 DOI:10.1111/bjd.14852
 PMID:25371768
 著者        Goldenberg G, Perl M
 タイトル      Actinic keratosis: update on field therapy.
 雑誌        J Clin Aesthet Dermatol 7:28-31 (2014)
 PMID:2757930
 著者        Atherton DJ, Botcherby PK, Francis AJ, Smith NP, Wells RS, Giannelli F
 タイトル      Familial keratoses of actinic distribution associated with internal malignancy and cellular hypersensitivity to UVA.
 雑誌        Br J Dermatol 120:671-81 (1989)
 DOI:10.1111/j.1365-2133.1989.tb01355.x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02429"">H02429</a>",日光角化症,"Actinic keratosis (AK) is a common cutaneous lesion associated with chronic exposure to ultraviolet (UV) radiation. AK presents scaly, erythematous papule or plaque and is considered the earliest clinically recognizable manifestation of squamous cell carcinoma.",,,,,,"イミキモド [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D02500"">D02500</a>]",,"ICD-11: EK90.0
 ICD-10: L57.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055623"">D055623</a>
 OMIM: <a href=""https://www.omim.org/entry/148390"">148390</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27500794"">27500794</a>
 著者        Siegel JA, Korgavkar K, Weinstock MA
 タイトル      Current perspective on actinic keratosis: a review.
 雑誌        Br J Dermatol 177:350-358 (2017)
 DOI:<a href=""https://doi.org/10.1111/bjd.14852"">10.1111/bjd.14852</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25371768"">25371768</a>
 著者        Goldenberg G, Perl M
 タイトル      Actinic keratosis: update on field therapy.
 雑誌        J Clin Aesthet Dermatol 7:28-31 (2014)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/2757930"">2757930</a>
 著者        Atherton DJ, Botcherby PK, Francis AJ, Smith NP, Wells RS, Giannelli F
 タイトル      Familial keratoses of actinic distribution associated with internal malignancy and cellular hypersensitivity to UVA.
 雑誌        Br J Dermatol 120:671-81 (1989)
 DOI:<a href=""https://doi.org/10.1111/j.1365-2133.1989.tb01355.x"">10.1111/j.1365-2133.1989.tb01355.x</a>"
H02430,難聴と糖尿病を伴う小脳および末梢性複合運動失調,,,"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.",神経系疾患,,DNAJC3 [HSA:5611] [KO:K09523],,,,,,"ICD-11: LD2H.Y
 ICD-10: G32.8
 OMIM: 616192","PMID:15793246
 著者        Ladiges WC, Knoblaugh SE, Morton JF, Korth MJ, Sopher BL, Baskin CR, MacAuley A, Goodman AG, LeBoeuf RC, Katze MG
 タイトル      Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK.
 雑誌        Diabetes 54:1074-81 (2005)
 DOI:10.2337/diabetes.54.4.1074
 PMID:25466870
 著者        Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schonfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Zuchner S, Schule R, Schols L, Prokisch H
 タイトル      Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
 雑誌        Am J Hum Genet 95:689-97 (2014)
 DOI:10.1016/j.ajhg.2014.10.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02430"">H02430</a>",難聴と糖尿病を伴う小脳および末梢性複合運動失調,"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.",,"DNAJC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5611"">5611</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09523"">K09523</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: G32.8
 OMIM: <a href=""https://www.omim.org/entry/616192"">616192</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15793246"">15793246</a>
 著者        Ladiges WC, Knoblaugh SE, Morton JF, Korth MJ, Sopher BL, Baskin CR, MacAuley A, Goodman AG, LeBoeuf RC, Katze MG
 タイトル      Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK.
 雑誌        Diabetes 54:1074-81 (2005)
 DOI:<a href=""https://doi.org/10.2337/diabetes.54.4.1074"">10.2337/diabetes.54.4.1074</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25466870"">25466870</a>
 著者        Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schonfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Zuchner S, Schule R, Schols L, Prokisch H
 タイトル      Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
 雑誌        Am J Hum Genet 95:689-97 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.10.013"">10.1016/j.ajhg.2014.10.013</a>"
H02431,小脳低形成、てんかん、および全般的発達遅滞,,,"Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease.",先天奇形,,OXR1 [HSA:55074] [KO:K25437],,,,,,"ICD-11: LD20.0Y
 ICD-10: Q04.3
 OMIM: 213000","PMID:22028674
 著者        Oliver PL, Finelli MJ, Edwards B, Bitoun E, Butts DL, Becker EB, Cheeseman MT, Davies B, Davies KE
 タイトル      Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.
 雑誌        PLoS Genet 7:e1002338 (2011)
 DOI:10.1371/journal.pgen.1002338
 PMID:31785787
 著者        Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM
 タイトル      Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
 雑誌        Am J Hum Genet 105:1237-1253 (2019)
 DOI:10.1016/j.ajhg.2019.11.002","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02431"">H02431</a>",小脳低形成、てんかん、および全般的発達遅滞,"Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease.",,"OXR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55074"">55074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25437"">K25437</a>]",,,,,,"ICD-11: LD20.0Y
 ICD-10: Q04.3
 OMIM: <a href=""https://www.omim.org/entry/213000"">213000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22028674"">22028674</a>
 著者        Oliver PL, Finelli MJ, Edwards B, Bitoun E, Butts DL, Becker EB, Cheeseman MT, Davies B, Davies KE
 タイトル      Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.
 雑誌        PLoS Genet 7:e1002338 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1002338"">10.1371/journal.pgen.1002338</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31785787"">31785787</a>
 著者        Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM
 タイトル      Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
 雑誌        Am J Hum Genet 105:1237-1253 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.11.002"">10.1016/j.ajhg.2019.11.002</a>"
H02432,ブチリルコリンエステラーゼ欠損症,,,"Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BCHED are possibly in danger of postanesthetic apnea.",先天性代謝異常症,,BCHE [HSA:590] [KO:K01050],,,,,,"ICD-11: 5C59.Y
 ICD-10: E88.8
 MeSH: C537417
 OMIM: 617936","PMID:1570838
 著者        Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
 タイトル      DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.
 雑誌        Am J Hum Genet 50:1086-103 (1992)
 PMID:12881446
 著者        Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM
 タイトル      Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
 雑誌        Clin Chem 49:1297-308 (2003)
 DOI:10.1373/49.8.1297
 PMID:25264279
 著者        Delacour H, Lushchekina S, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O
 タイトル      Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium.
 雑誌        Biochem Pharmacol 92:476-83 (2014)
 DOI:10.1016/j.bcp.2014.09.014
 PMID:29631548
 著者        Yu R, Guo Y, Dan Y, Tan W, Mao Q, Deng G
 タイトル      A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
 雑誌        BMC Med Genet 19:58 (2018)
 DOI:10.1186/s12881-018-0561-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02432"">H02432</a>",ブチリルコリンエステラーゼ欠損症,"Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BCHED are possibly in danger of postanesthetic apnea.",,"BCHE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:590"">590</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01050"">K01050</a>]",,,,,,"ICD-11: 5C59.Y
 ICD-10: E88.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537417"">C537417</a>
 OMIM: <a href=""https://www.omim.org/entry/617936"">617936</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1570838"">1570838</a>
 著者        Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
 タイトル      DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.
 雑誌        Am J Hum Genet 50:1086-103 (1992)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12881446"">12881446</a>
 著者        Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM
 タイトル      Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
 雑誌        Clin Chem 49:1297-308 (2003)
 DOI:<a href=""https://doi.org/10.1373/49.8.1297"">10.1373/49.8.1297</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25264279"">25264279</a>
 著者        Delacour H, Lushchekina S, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O
 タイトル      Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium.
 雑誌        Biochem Pharmacol 92:476-83 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.bcp.2014.09.014"">10.1016/j.bcp.2014.09.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29631548"">29631548</a>
 著者        Yu R, Guo Y, Dan Y, Tan W, Mao Q, Deng G
 タイトル      A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
 雑誌        BMC Med Genet 19:58 (2018)
 DOI:<a href=""https://doi.org/10.1186/s12881-018-0561-5"">10.1186/s12881-018-0561-5</a>"
H02433,脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成,,,"Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.",先天性代謝異常症,,DARS1 [HSA:1615] [KO:K22503],,,,,,"ICD-11: 5C55.Y
 ICD-10: E75.2
 OMIM: 615281","PMID:23643384
 著者        Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI
 タイトル      Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
 雑誌        Am J Hum Genet 92:774-80 (2013)
 DOI:10.1016/j.ajhg.2013.04.006
 PMID:25684057
 著者        Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A
 タイトル      Disease specific therapies in leukodystrophies and leukoencephalopathies.
 雑誌        Mol Genet Metab 114:527-36 (2015)
 DOI:10.1016/j.ymgme.2015.01.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02433"">H02433</a>",脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成,"Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.",,"DARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1615"">1615</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22503"">K22503</a>]",,,,,,"ICD-11: 5C55.Y
 ICD-10: E75.2
 OMIM: <a href=""https://www.omim.org/entry/615281"">615281</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23643384"">23643384</a>
 著者        Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI
 タイトル      Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
 雑誌        Am J Hum Genet 92:774-80 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.04.006"">10.1016/j.ajhg.2013.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25684057"">25684057</a>
 著者        Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A
 タイトル      Disease specific therapies in leukodystrophies and leukoencephalopathies.
 雑誌        Mol Genet Metab 114:527-36 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2015.01.014"">10.1016/j.ymgme.2015.01.014</a>"
H02434,"びまん性大細胞型B細胞リンパ腫、非特定
 上位グループ    非ホジキンリンパ腫 [DS:H02418]",,,"Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of NHL. DLBCL can occur as primary disease or through histologic transformation from other low-grade B-cell lymphoma, and is a clinically and genetically heterogeneous disease. The cell-of-origin (COO) determination based on gene expression profiling (GEP) subdivides most DLBCL, NOS patients into two main categories, namely germinal center B-cell-like (GCB) and activated B-cell-like (ABC) DLBCL. GCB subtype is characterized by frequent mutations in involved histone methylation or acetylation (EZH2, EP300), B-cell homing (GNA13, GNAI2), PI3K pathway signalling (PTEN), and apoptotic pathway (BCL2). In contrast, ABC subtype is driven by frequent mutations in the B cell receptor and NFKB pathways (CARD11, CD79a/CD79b, TNFAIP3 and MYD88).",がん,,"EZH2 (mutation) [HSA:2146] [KO:K11430]
 CREBBP (mutation/deletion) [HSA:1387] [KO:K04498]
 EP300 (mutation/deletion) [HSA:2033] [KO:K04498]
 GNA13 (mutation) [HSA:10672] [KO:K04639]
 GNAI2 (mutation) [HSA:2768] [KO:K04346]
 TNFRSF14 (mutation) [HSA:8764] [KO:K05152]
 BCL6 (mutation) [HSA:604] [KO:K15618]
 MYC (chromosomal translocation) [HSA:4609] [KO:K04377]
 PTEN (deletion) [HSA:5728] [KO:K01110]
 BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161]
 CARD11 (mutation) [HSA:84433] [KO:K07367]
 CD79A (mutation) [HSA:973] [KO:K06506]
 CD79B (mutation) [HSA:974] [KO:K06507]
 TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859]
 MYD88 (mutation) [HSA:4615] [KO:K04729]
 CDKN2A (deletion) [HSA:1029] [KO:K06621]
 CDKN2B (deletion) [HSA:1030] [KO:K04685]
 PRDM1 (mutation/deletion) [HSA:639] [KO:K24501]
 MLL2 (mutation) [HSA:8085] [KO:K09187]
 MLL3 (mutation) [HSA:58508] [KO:K09188]
 B2M (mutation/deletion) [HSA:567] [KO:K08055]
 CD58 (mutation/deletion) [HSA:965] [KO:K06492]
 TP53 (mutation) [HSA:7157] [KO:K04451]
 MEF2B (mutation) [HSA:100271849] [KO:K09261]
 FOXO1 (mutation) [HSA:2308] [KO:K07201]",,,,"ベンダムスチン塩酸塩 [DR:D07085]
 ベンダムスチン塩酸塩水和物 [DR:D11661]
 ポラツズマブベドチン [DR:D10761]
 リソカブタゲンマラルユーセル [DR:D11990]",,"ICD-11: 2A81.Z
 ICD-10: C83.3
 MeSH: D016403","PMID:29167021
 著者        Li S, Young KH, Medeiros LJ
 タイトル      Diffuse large B-cell lymphoma.
 雑誌        Pathology 50:74-87 (2018)
 DOI:10.1016/j.pathol.2017.09.006
 PMID:31942539
 著者        Chiappella A, Crombie J, Guidetti A, Vitolo U, Armand P, Corradini P
 タイトル      Are We Ready to Treat Diffuse Large B-cell and High-Grade Lymphoma According to Major Genetic Subtypes?
 雑誌        Hemasphere 3:e284 (2019)
 DOI:10.1097/HS9.0000000000000284
 PMID:32616477
 著者        Ennishi D, Hsi ED, Steidl C, Scott DW
 タイトル      Toward a New Molecular Taxonomy of Diffuse Large B-cell Lymphoma.
 雑誌        Cancer Discov 2159-8290.CD-20-0174 (2020)
 DOI:10.1158/2159-8290.CD-20-0174
 PMID:31177376
 著者        Ohmachi K
 タイトル      JSH practical guidelines for hematological malignancies, 2018: II. Lymphoma-5-diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS).
 雑誌        Int J Hematol 110:131-146 (2019)
 DOI:10.1007/s12185-019-02681-3
 PMID:29713087
 著者        Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trumper L, Getz G, Shipp MA
 タイトル      Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes.
 雑誌        Nat Med 24:679-690 (2018)
 DOI:10.1038/s41591-018-0016-8
 PMID:29666115
 著者        Pasqualucci L, Dalla-Favera R
 タイトル      Genetics of diffuse large B-cell lymphoma.
 雑誌        Blood 131:2307-2319 (2018)
 DOI:10.1182/blood-2017-11-764332
 PMID:22343534
 著者        Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareno C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernandez-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR
 タイトル      Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing.
 雑誌        Proc Natl Acad Sci U S A 109:3879-84 (2012)
 DOI:10.1073/pnas.1121343109
 PMID:31940809
 著者        Coccaro N, Anelli L, Zagaria A, Perrone T, Specchia G, Albano F
 タイトル      Molecular Complexity of Diffuse Large B-Cell Lymphoma: Can It Be a Roadmap for Precision Medicine?
 雑誌        Cancers (Basel) 12:E185 (2020)
 DOI:10.3390/cancers12010185","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02434"">H02434</a>","びまん性大細胞型B細胞リンパ腫、非特定
 上位グループ    非ホジキンリンパ腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02418"">H02418</a>]","Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of NHL. DLBCL can occur as primary disease or through histologic transformation from other low-grade B-cell lymphoma, and is a clinically and genetically heterogeneous disease. The cell-of-origin (COO) determination based on gene expression profiling (GEP) subdivides most DLBCL, NOS patients into two main categories, namely germinal center B-cell-like (GCB) and activated B-cell-like (ABC) DLBCL. GCB subtype is characterized by frequent mutations in involved histone methylation or acetylation (EZH2, EP300), B-cell homing (GNA13, GNAI2), PI3K pathway signalling (PTEN), and apoptotic pathway (BCL2). In contrast, ABC subtype is driven by frequent mutations in the B cell receptor and NFKB pathways (CARD11, CD79a/CD79b, TNFAIP3 and MYD88).",,"EZH2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2146"">2146</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11430"">K11430</a>]
 CREBBP (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1387"">1387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]
 EP300 (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2033"">2033</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04498"">K04498</a>]
 GNA13 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10672"">10672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04639"">K04639</a>]
 GNAI2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2768"">2768</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04346"">K04346</a>]
 TNFRSF14 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8764"">8764</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05152"">K05152</a>]
 BCL6 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:604"">604</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15618"">K15618</a>]
 MYC (chromosomal translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4609"">4609</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04377"">K04377</a>]
 PTEN (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5728"">5728</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01110"">K01110</a>]
 BCL2 (chromosomal translocation / mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:596"">596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02161"">K02161</a>]
 CARD11 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84433"">84433</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07367"">K07367</a>]
 CD79A (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:973"">973</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06506"">K06506</a>]
 CD79B (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:974"">974</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06507"">K06507</a>]
 TNFAIP3 (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7128"">7128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11859"">K11859</a>]
 MYD88 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4615"">4615</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04729"">K04729</a>]
 CDKN2A (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1029"">1029</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06621"">K06621</a>]
 CDKN2B (deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1030"">1030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04685"">K04685</a>]
 PRDM1 (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:639"">639</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24501"">K24501</a>]
 MLL2 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8085"">8085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09187"">K09187</a>]
 MLL3 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58508"">58508</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09188"">K09188</a>]
 B2M (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:567"">567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08055"">K08055</a>]
 CD58 (mutation/deletion) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:965"">965</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06492"">K06492</a>]
 TP53 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 MEF2B (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100271849"">100271849</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09261"">K09261</a>]
 FOXO1 (mutation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2308"">2308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07201"">K07201</a>]",,,,"ベンダムスチン塩酸塩 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D07085"">D07085</a>]
 ベンダムスチン塩酸塩水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11661"">D11661</a>]
 ポラツズマブベドチン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D10761"">D10761</a>]
 リソカブタゲンマラルユーセル [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11990"">D11990</a>]",,"ICD-11: 2A81.Z
 ICD-10: C83.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016403"">D016403</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29167021"">29167021</a>
 著者        Li S, Young KH, Medeiros LJ
 タイトル      Diffuse large B-cell lymphoma.
 雑誌        Pathology 50:74-87 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.pathol.2017.09.006"">10.1016/j.pathol.2017.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31942539"">31942539</a>
 著者        Chiappella A, Crombie J, Guidetti A, Vitolo U, Armand P, Corradini P
 タイトル      Are We Ready to Treat Diffuse Large B-cell and High-Grade Lymphoma According to Major Genetic Subtypes?
 雑誌        Hemasphere 3:e284 (2019)
 DOI:<a href=""https://doi.org/10.1097/HS9.0000000000000284"">10.1097/HS9.0000000000000284</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32616477"">32616477</a>
 著者        Ennishi D, Hsi ED, Steidl C, Scott DW
 タイトル      Toward a New Molecular Taxonomy of Diffuse Large B-cell Lymphoma.
 雑誌        Cancer Discov 2159-8290.CD-20-0174 (2020)
 DOI:<a href=""https://doi.org/10.1158/2159-8290.CD-20-0174"">10.1158/2159-8290.CD-20-0174</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31177376"">31177376</a>
 著者        Ohmachi K
 タイトル      JSH practical guidelines for hematological malignancies, 2018: II. Lymphoma-5-diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS).
 雑誌        Int J Hematol 110:131-146 (2019)
 DOI:<a href=""https://doi.org/10.1007/s12185-019-02681-3"">10.1007/s12185-019-02681-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29713087"">29713087</a>
 著者        Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trumper L, Getz G, Shipp MA
 タイトル      Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes.
 雑誌        Nat Med 24:679-690 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41591-018-0016-8"">10.1038/s41591-018-0016-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29666115"">29666115</a>
 著者        Pasqualucci L, Dalla-Favera R
 タイトル      Genetics of diffuse large B-cell lymphoma.
 雑誌        Blood 131:2307-2319 (2018)
 DOI:<a href=""https://doi.org/10.1182/blood-2017-11-764332"">10.1182/blood-2017-11-764332</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22343534"">22343534</a>
 著者        Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareno C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernandez-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR
 タイトル      Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing.
 雑誌        Proc Natl Acad Sci U S A 109:3879-84 (2012)
 DOI:<a href=""https://doi.org/10.1073/pnas.1121343109"">10.1073/pnas.1121343109</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31940809"">31940809</a>
 著者        Coccaro N, Anelli L, Zagaria A, Perrone T, Specchia G, Albano F
 タイトル      Molecular Complexity of Diffuse Large B-Cell Lymphoma: Can It Be a Roadmap for Precision Medicine?
 雑誌        Cancers (Basel) 12:E185 (2020)
 DOI:<a href=""https://doi.org/10.3390/cancers12010185"">10.3390/cancers12010185</a>"
H02435,難聴-不妊症候群,,,"Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes at 15q15.3. The deleted region involves two genes, CATSPER2 and STRC, that are expressed in the sperm and inner ear, respectively.",先天奇形,,"CATSPER2 [HSA:117155] [KO:K16890]
 STRC [HSA:161497] [KO:K24636]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q93.5
 MeSH: C567010
 OMIM: 611102","PMID:12825070
 著者        Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS
 タイトル      CATSPER2, a human autosomal nonsyndromic male infertility gene.
 雑誌        Eur J Hum Genet 11:497-502 (2003)
 DOI:10.1038/sj.ejhg.5200991
 PMID:17098888
 著者        Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ
 タイトル      Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
 雑誌        J Med Genet 44:233-40 (2007)
 DOI:10.1136/jmg.2006.045765
 PMID:23648117
 著者        Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D
 タイトル      Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
 雑誌        Mol Cytogenet 6:19 (2013)
 DOI:10.1186/1755-8166-6-19","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02435"">H02435</a>",難聴-不妊症候群,"Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes at 15q15.3. The deleted region involves two genes, CATSPER2 and STRC, that are expressed in the sperm and inner ear, respectively.",,"CATSPER2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:117155"">117155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16890"">K16890</a>]
 STRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:161497"">161497</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24636"">K24636</a>]",,,,,,"ICD-11: LD2H.Y
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C567010"">C567010</a>
 OMIM: <a href=""https://www.omim.org/entry/611102"">611102</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12825070"">12825070</a>
 著者        Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS
 タイトル      CATSPER2, a human autosomal nonsyndromic male infertility gene.
 雑誌        Eur J Hum Genet 11:497-502 (2003)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5200991"">10.1038/sj.ejhg.5200991</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17098888"">17098888</a>
 著者        Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ
 タイトル      Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
 雑誌        J Med Genet 44:233-40 (2007)
 DOI:<a href=""https://doi.org/10.1136/jmg.2006.045765"">10.1136/jmg.2006.045765</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23648117"">23648117</a>
 著者        Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D
 タイトル      Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
 雑誌        Mol Cytogenet 6:19 (2013)
 DOI:<a href=""https://doi.org/10.1186/1755-8166-6-19"">10.1186/1755-8166-6-19</a>"
H02436,Al-Gazali 症候群,,,Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes  an essential component of the glycosaminoglycan synthesis pathway.,先天奇形,,B3GALT6 [HSA:126792] [KO:K00734],,,,,,"ICD-11: LD24.61
 MeSH: C536817
 OMIM: 609465","PMID:29443383
 著者        Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L
 タイトル      A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta3GalT6-pathy mutations.
 雑誌        Clin Genet 93:1148-1158 (2018)
 DOI:10.1111/cge.13236
 PMID:15602085
 著者        Thong MK, Chan LG, Ting HS
 タイトル      Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
 雑誌        Clin Dysmorphol 14:1-5 (2005)
 DOI:10.1097/00019605-200501000-00001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02436"">H02436</a>",Al-Gazali 症候群,Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes  an essential component of the glycosaminoglycan synthesis pathway.,,"B3GALT6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:126792"">126792</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00734"">K00734</a>]",,,,,,"ICD-11: LD24.61
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536817"">C536817</a>
 OMIM: <a href=""https://www.omim.org/entry/609465"">609465</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29443383"">29443383</a>
 著者        Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L
 タイトル      A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta3GalT6-pathy mutations.
 雑誌        Clin Genet 93:1148-1158 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13236"">10.1111/cge.13236</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15602085"">15602085</a>
 著者        Thong MK, Chan LG, Ting HS
 タイトル      Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
 雑誌        Clin Dysmorphol 14:1-5 (2005)
 DOI:<a href=""https://doi.org/10.1097/00019605-200501000-00001"">10.1097/00019605-200501000-00001</a>"
H02437,成長遅滞、知的発達障害、筋緊張低下および肝障害,,,"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS).",先天奇形,,IARS1 [HSA:3376] [KO:K01870],,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.7
 OMIM: 617093","PMID:27426735
 著者        Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kolker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Muller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
 タイトル      Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
 雑誌        Am J Hum Genet 99:414-22 (2016)
 DOI:10.1016/j.ajhg.2016.05.027
 PMID:27891590
 著者        Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M
 タイトル      Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
 雑誌        Clin Genet 91:913-917 (2017)
 DOI:10.1111/cge.12930","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02437"">H02437</a>",成長遅滞、知的発達障害、筋緊張低下および肝障害,"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS).",,"IARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3376"">3376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01870"">K01870</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.7
 OMIM: <a href=""https://www.omim.org/entry/617093"">617093</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27426735"">27426735</a>
 著者        Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kolker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Muller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
 タイトル      Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
 雑誌        Am J Hum Genet 99:414-22 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.027"">10.1016/j.ajhg.2016.05.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27891590"">27891590</a>
 著者        Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M
 タイトル      Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
 雑誌        Clin Genet 91:913-917 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12930"">10.1111/cge.12930</a>"
H02438,高グリシン血症、乳酸アシドーシスおよび痙攣,,,"Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations in the lipoate synthase gene (LIAS) have been identified in patients with HGCLAS. LIAS is essential in the maturation of lipoic acid which acts as cofactor for mitochondrial enzymes.",先天性代謝異常症,,LIAS [HSA:11019] [KO:K03644],,,,,,"ICD-11: 5C53.0Y
 ICD-10: E88.8
 OMIM: 614462","PMID:24334290
 著者        Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL
 タイトル      Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
 雑誌        Brain 137:366-79 (2014)
 DOI:10.1093/brain/awt328
 PMID:22152680
 著者        Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
 タイトル      Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
 雑誌        Am J Hum Genet 89:792-7 (2011)
 DOI:10.1016/j.ajhg.2011.11.011
 PMID:28064324
 著者        Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K
 タイトル      Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
 雑誌        Neurosciences (Riyadh) 22:4-13 (2017)
 DOI:10.17712/nsj.2017.1.20160542","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02438"">H02438</a>",高グリシン血症、乳酸アシドーシスおよび痙攣,"Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations in the lipoate synthase gene (LIAS) have been identified in patients with HGCLAS. LIAS is essential in the maturation of lipoic acid which acts as cofactor for mitochondrial enzymes.",,"LIAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11019"">11019</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03644"">K03644</a>]",,,,,,"ICD-11: 5C53.0Y
 ICD-10: E88.8
 OMIM: <a href=""https://www.omim.org/entry/614462"">614462</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24334290"">24334290</a>
 著者        Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL
 タイトル      Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
 雑誌        Brain 137:366-79 (2014)
 DOI:<a href=""https://doi.org/10.1093/brain/awt328"">10.1093/brain/awt328</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22152680"">22152680</a>
 著者        Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
 タイトル      Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
 雑誌        Am J Hum Genet 89:792-7 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.011"">10.1016/j.ajhg.2011.11.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28064324"">28064324</a>
 著者        Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K
 タイトル      Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
 雑誌        Neurosciences (Riyadh) 22:4-13 (2017)
 DOI:<a href=""https://doi.org/10.17712/nsj.2017.1.20160542"">10.17712/nsj.2017.1.20160542</a>"
H02439,低身長、成長遅滞、先天性心疾患,,,"Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.",先天性代謝異常症,,TKT [HSA:7086] [KO:K00615],,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 OMIM: 617044","PMID:27259054
 著者        Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK
 タイトル      Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
 雑誌        Am J Hum Genet 98:1235-1242 (2016)
 DOI:10.1016/j.ajhg.2016.03.030","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02439"">H02439</a>",低身長、成長遅滞、先天性心疾患,"Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.",,"TKT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7086"">7086</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00615"">K00615</a>]",,,,,,"ICD-11: 5C51.0
 ICD-10: E74.8
 OMIM: <a href=""https://www.omim.org/entry/617044"">617044</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259054"">27259054</a>
 著者        Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK
 タイトル      Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
 雑誌        Am J Hum Genet 98:1235-1242 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.03.030"">10.1016/j.ajhg.2016.03.030</a>"
H02440,家族性良性斑点網膜症,,,"Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause FRFB.",神経系疾患,,PLA2G5 [HSA:5322] [KO:K01047],,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: C565564
 OMIM: 228980","PMID:17502520
 著者        Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT
 タイトル      Autofluorescence imaging in a case of benign familial fleck retina.
 雑誌        Arch Ophthalmol 125:714-5 (2007)
 DOI:10.1001/archopht.125.5.714
 PMID:22137173
 著者        Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR
 タイトル      Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
 雑誌        Am J Hum Genet 89:782-91 (2011)
 DOI:10.1016/j.ajhg.2011.11.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02440"">H02440</a>",家族性良性斑点網膜症,"Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause FRFB.",,"PLA2G5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5322"">5322</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01047"">K01047</a>]",,,,,,"ICD-11: 9B70
 ICD-10: H35.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565564"">C565564</a>
 OMIM: <a href=""https://www.omim.org/entry/228980"">228980</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17502520"">17502520</a>
 著者        Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT
 タイトル      Autofluorescence imaging in a case of benign familial fleck retina.
 雑誌        Arch Ophthalmol 125:714-5 (2007)
 DOI:<a href=""https://doi.org/10.1001/archopht.125.5.714"">10.1001/archopht.125.5.714</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22137173"">22137173</a>
 著者        Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR
 タイトル      Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
 雑誌        Am J Hum Genet 89:782-91 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2011.11.004"">10.1016/j.ajhg.2011.11.004</a>"
H02441,HUPRA 症候群,,,"HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 encoding the mitochondrial seryl-tRNA synthetase, cause HUPRA syndrome.",先天性代謝異常症,,SARS2 [HSA:54938] [KO:K01875],,,,,,"ICD-11: 5C5Y
 ICD-10: N15.8
 OMIM: 613845","PMID:21255763
 著者        Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y
 タイトル      Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
 雑誌        Am J Hum Genet 88:193-200 (2011)
 DOI:10.1016/j.ajhg.2010.12.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02441"">H02441</a>",HUPRA 症候群,"HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 encoding the mitochondrial seryl-tRNA synthetase, cause HUPRA syndrome.",,"SARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54938"">54938</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01875"">K01875</a>]",,,,,,"ICD-11: 5C5Y
 ICD-10: N15.8
 OMIM: <a href=""https://www.omim.org/entry/613845"">613845</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21255763"">21255763</a>
 著者        Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y
 タイトル      Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
 雑誌        Am J Hum Genet 88:193-200 (2011)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2010.12.010"">10.1016/j.ajhg.2010.12.010</a>"
H02442,"風邪;
 普通感冒",,,"The common cold is a viral infection of the upper respiratory tract. Many types of viruses can cause a common cold, with rhinoviruses being the most common. Certain coronaviruses are also implicated in causing a common cold.",感染症,,,"Rhinoviruses including:
 Rhinovirus A [GN:T40366]
 Rhinovirus B [GN:T40367]
 Rhinovirus C [GN:T40368]
 Human coronaviruses including:
 Human coronavirus OC43 [GN:T40362]
 Human coronavirus HKU1 [GN:T40363]
 Human coronavirus 229E [GN:T40364]
 Human coronavirus NL63 [GN:T40365]",,,,,MeSH: D003139,"PMID:29551135
 著者        Corman VM, Muth D, Niemeyer D, Drosten C
 タイトル      Hosts and Sources of Endemic Human Coronaviruses.
 雑誌        Adv Virus Res 100:163-188 (2018)
 DOI:10.1016/bs.aivir.2018.01.001
 PMID:20554810
 著者        Gaunt ER, Hardie A, Claas EC, Simmonds P, Templeton KE
 タイトル      Epidemiology and clinical presentations of the four human coronaviruses 229E, HKU1, NL63, and OC43 detected over 3 years using a novel multiplex real-time PCR  method.
 雑誌        J Clin Microbiol 48:2940-7 (2010)
 DOI:10.1128/JCM.00636-10
 PMID:23297263
 著者        Jacobs SE, Lamson DM, St George K, Walsh TJ
 タイトル      Human rhinoviruses.
 雑誌        Clin Microbiol Rev 26:135-62 (2013)
 DOI:10.1128/CMR.00077-12","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02442"">H02442</a>","風邪;
 普通感冒","The common cold is a viral infection of the upper respiratory tract. Many types of viruses can cause a common cold, with rhinoviruses being the most common. Certain coronaviruses are also implicated in causing a common cold.",,,"Rhinoviruses including:
 Rhinovirus A [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40366"">T40366</a>]
 Rhinovirus B [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40367"">T40367</a>]
 Rhinovirus C [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40368"">T40368</a>]
 Human coronaviruses including:
 Human coronavirus OC43 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40362"">T40362</a>]
 Human coronavirus HKU1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40363"">T40363</a>]
 Human coronavirus 229E [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40364"">T40364</a>]
 Human coronavirus NL63 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40365"">T40365</a>]",,,,,"MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003139"">D003139</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29551135"">29551135</a>
 著者        Corman VM, Muth D, Niemeyer D, Drosten C
 タイトル      Hosts and Sources of Endemic Human Coronaviruses.
 雑誌        Adv Virus Res 100:163-188 (2018)
 DOI:<a href=""https://doi.org/10.1016/bs.aivir.2018.01.001"">10.1016/bs.aivir.2018.01.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20554810"">20554810</a>
 著者        Gaunt ER, Hardie A, Claas EC, Simmonds P, Templeton KE
 タイトル      Epidemiology and clinical presentations of the four human coronaviruses 229E, HKU1, NL63, and OC43 detected over 3 years using a novel multiplex real-time PCR  method.
 雑誌        J Clin Microbiol 48:2940-7 (2010)
 DOI:<a href=""https://doi.org/10.1128/JCM.00636-10"">10.1128/JCM.00636-10</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23297263"">23297263</a>
 著者        Jacobs SE, Lamson DM, St George K, Walsh TJ
 タイトル      Human rhinoviruses.
 雑誌        Clin Microbiol Rev 26:135-62 (2013)
 DOI:<a href=""https://doi.org/10.1128/CMR.00077-12"">10.1128/CMR.00077-12</a>"
H02444,Luscan-Lumish 症候群,,,"Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems.",先天奇形,,SETD2 [HSA:29072] [KO:K11423],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 616831","PMID:26084711
 著者        Lumish HS, Wynn J, Devinsky O, Chung WK
 タイトル      Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
 雑誌        J Autism Dev Disord 45:3764-70 (2015)
 DOI:10.1007/s10803-015-2484-8
 PMID:24852293
 著者        Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V
 タイトル      Mutations in SETD2 cause a novel overgrowth condition.
 雑誌        J Med Genet 51:512-7 (2014)
 DOI:10.1136/jmedgenet-2014-102402","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02444"">H02444</a>",Luscan-Lumish 症候群,"Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems.",,"SETD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29072"">29072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11423"">K11423</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/616831"">616831</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26084711"">26084711</a>
 著者        Lumish HS, Wynn J, Devinsky O, Chung WK
 タイトル      Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
 雑誌        J Autism Dev Disord 45:3764-70 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10803-015-2484-8"">10.1007/s10803-015-2484-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24852293"">24852293</a>
 著者        Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V
 タイトル      Mutations in SETD2 cause a novel overgrowth condition.
 雑誌        J Med Genet 51:512-7 (2014)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2014-102402"">10.1136/jmedgenet-2014-102402</a>"
H02445,小角膜・近視性網脈絡膜萎縮および眼角隔離,,,"Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular matrix remodeling. It is suggested that ADAMTS18 plays an essential role in early eye development.",先天奇形,,ADAMTS18 [HSA:170692] [KO:K08632],,,,,,"ICD-11: LD21.Y
 ICD-10: Q15.8
 MeSH: C537551
 OMIM: 615458","PMID:23818446
 著者        Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS
 タイトル      The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
 雑誌        Hum Mutat 34:1195-9 (2013)
 DOI:10.1002/humu.22374
 PMID:22686506
 著者        Khan AO
 タイトル      Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.
 雑誌        Ophthalmic Genet 33:196-9 (2012)
 DOI:10.3109/13816810.2012.681097","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02445"">H02445</a>",小角膜・近視性網脈絡膜萎縮および眼角隔離,"Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular matrix remodeling. It is suggested that ADAMTS18 plays an essential role in early eye development.",,"ADAMTS18 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170692"">170692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08632"">K08632</a>]",,,,,,"ICD-11: LD21.Y
 ICD-10: Q15.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537551"">C537551</a>
 OMIM: <a href=""https://www.omim.org/entry/615458"">615458</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23818446"">23818446</a>
 著者        Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS
 タイトル      The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
 雑誌        Hum Mutat 34:1195-9 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22374"">10.1002/humu.22374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22686506"">22686506</a>
 著者        Khan AO
 タイトル      Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.
 雑誌        Ophthalmic Genet 33:196-9 (2012)
 DOI:<a href=""https://doi.org/10.3109/13816810.2012.681097"">10.3109/13816810.2012.681097</a>"
H02446,常染色体劣性遺伝性巨頭症/巨脳症症候群,,,"Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.",先天奇形,,TBC1D7 [HSA:51256] [KO:K20396],,,,,,"ICD-11: LA05.1
 ICD-10: Q04.5
 MeSH: D058627
 OMIM: 248000","PMID:24515783
 著者        Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A
 タイトル      TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
 雑誌        Hum Mutat 35:447-51 (2014)
 DOI:10.1002/humu.22529
 PMID:23687350
 著者        Capo-Chichi JM, Tcherkezian J, Hamdan FF, Decarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL
 タイトル      Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
 雑誌        J Med Genet 50:740-4 (2013)
 DOI:10.1136/jmedgenet-2013-101680","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02446"">H02446</a>",常染色体劣性遺伝性巨頭症/巨脳症症候群,"Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.",,"TBC1D7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51256"">51256</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20396"">K20396</a>]",,,,,,"ICD-11: LA05.1
 ICD-10: Q04.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058627"">D058627</a>
 OMIM: <a href=""https://www.omim.org/entry/248000"">248000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24515783"">24515783</a>
 著者        Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A
 タイトル      TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
 雑誌        Hum Mutat 35:447-51 (2014)
 DOI:<a href=""https://doi.org/10.1002/humu.22529"">10.1002/humu.22529</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23687350"">23687350</a>
 著者        Capo-Chichi JM, Tcherkezian J, Hamdan FF, Decarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL
 タイトル      Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
 雑誌        J Med Genet 50:740-4 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2013-101680"">10.1136/jmedgenet-2013-101680</a>"
H02447,錐体外路症状を伴うミオパチー,,,"Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive disorder characterized by proximal myopathy, learning difficulties, and a progressive extrapyramidal movement disorder. Mutations in MICU1 have been reported in patients with this disease. MICU1 encodes a regulatory subunit of the Ca2+ uniporter complex in the inner mitochondrial membrane.",神経系疾患,,MICU1 [HSA:10367] [KO:K22827],,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 OMIM: 615673","PMID:24336167
 著者        Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, Duchen MR, Muntoni F, Sheridan E
 タイトル      Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
 雑誌        Nat Genet 46:188-93 (2014)
 DOI:10.1038/ng.2851
 PMID:29721912
 著者        Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T
 タイトル      A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
 雑誌        JIMD Rep 43:79-83 (2019)
 DOI:10.1007/8904_2018_107","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02447"">H02447</a>",錐体外路症状を伴うミオパチー,"Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive disorder characterized by proximal myopathy, learning difficulties, and a progressive extrapyramidal movement disorder. Mutations in MICU1 have been reported in patients with this disease. MICU1 encodes a regulatory subunit of the Ca2+ uniporter complex in the inner mitochondrial membrane.",,"MICU1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10367"">10367</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22827"">K22827</a>]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G71.3
 OMIM: <a href=""https://www.omim.org/entry/615673"">615673</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24336167"">24336167</a>
 著者        Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, Duchen MR, Muntoni F, Sheridan E
 タイトル      Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
 雑誌        Nat Genet 46:188-93 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.2851"">10.1038/ng.2851</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29721912"">29721912</a>
 著者        Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T
 タイトル      A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
 雑誌        JIMD Rep 43:79-83 (2019)
 DOI:<a href=""https://doi.org/10.1007/8904_2018_107"">10.1007/8904_2018_107</a>"
H02448,Harel-Yoon 症候群,,,"Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism.",神経系疾患,,ATAD3A [HSA:55210] [KO:K17681],,,,,,"ICD-11: 8C73.Y
 ICD-10: G60.8
 OMIM: 617183","PMID:27640307
 著者        Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR
 タイトル      Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
 雑誌        Am J Hum Genet 99:831-845 (2016)
 DOI:10.1016/j.ajhg.2016.08.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02448"">H02448</a>",Harel-Yoon 症候群,"Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism.",,"ATAD3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55210"">55210</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17681"">K17681</a>]",,,,,,"ICD-11: 8C73.Y
 ICD-10: G60.8
 OMIM: <a href=""https://www.omim.org/entry/617183"">617183</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27640307"">27640307</a>
 著者        Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR
 タイトル      Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
 雑誌        Am J Hum Genet 99:831-845 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.007"">10.1016/j.ajhg.2016.08.007</a>"
H02449,常染色体優性遺伝性葉状魚鱗癬,,,"Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.",先天奇形,,ASPRV1 [HSA:151516] [KO:K24552],,,,,,"ICD-11: EC20.0Y
 ICD-10: Q80.2
 MeSH: D017490
 OMIM: 146750","PMID:32516568
 著者        Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA
 タイトル      Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
 雑誌        Am J Hum Genet 107:158-163 (2020)
 DOI:10.1016/j.ajhg.2020.05.013
 PMID:4096524
 著者        Kolde G, Happle R, Traupe H
 タイトル      Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis.
 雑誌        Arch Dermatol Res 278:1-5 (1985)
 DOI:10.1007/BF00412487","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02449"">H02449</a>",常染色体優性遺伝性葉状魚鱗癬,"Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00734]."">H00734].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:ASPRV1"">ASPRV1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encodes"">encodes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mammalian-specific"">mammalian-specific</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:stratified"">stratified</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:epithelia-specific"">epithelia-specific</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:protease"">protease</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:important"">important</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:processing"">processing</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:filaggrin,"">filaggrin,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:critical"">critical</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:component"">component</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:uppermost"">uppermost</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:epidermal"">epidermal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:layer."">layer.</a>",,"ASPRV1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:151516"">151516</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24552"">K24552</a>]",,,,,,"ICD-11: EC20.0Y
 ICD-10: Q80.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D017490"">D017490</a>
 OMIM: <a href=""https://www.omim.org/entry/146750"">146750</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32516568"">32516568</a>
 著者        Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA
 タイトル      Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
 雑誌        Am J Hum Genet 107:158-163 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.05.013"">10.1016/j.ajhg.2020.05.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4096524"">4096524</a>
 著者        Kolde G, Happle R, Traupe H
 タイトル      Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis.
 雑誌        Arch Dermatol Res 278:1-5 (1985)
 DOI:<a href=""https://doi.org/10.1007/BF00412487"">10.1007/BF00412487</a>"
H02450,進行性脊柱側弯症を伴う水平注視麻痺,,,"Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.",神経系疾患,,"(HGPPS1) ROBO3 [HSA:64221] [KO:K06755]
 (HGPPS2) DCC [HSA:1630] [KO:K06765]",,,,,,"ICD-11: 9C83.00
 ICD-10: H49.4
 MeSH: C564593
 OMIM: 607313 617542","PMID:16525029
 著者        Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC
 タイトル      Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
 雑誌        J Med Genet 43:e11 (2006)
 DOI:10.1136/jmg.2005.035436
 PMID:28250456
 著者        Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW
 タイトル      Biallelic mutations in human DCC cause developmental split-brain syndrome.
 雑誌        Nat Genet 49:606-612 (2017)
 DOI:10.1038/ng.3804","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02450"">H02450</a>",進行性脊柱側弯症を伴う水平注視麻痺,"Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.",,"(HGPPS1) ROBO3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64221"">64221</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06755"">K06755</a>]
 (HGPPS2) DCC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1630"">1630</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06765"">K06765</a>]",,,,,,"ICD-11: 9C83.00
 ICD-10: H49.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564593"">C564593</a>
 OMIM: <a href=""https://www.omim.org/entry/607313"">607313</a> <a href=""https://www.omim.org/entry/617542"">617542</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16525029"">16525029</a>
 著者        Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC
 タイトル      Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
 雑誌        J Med Genet 43:e11 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.035436"">10.1136/jmg.2005.035436</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28250456"">28250456</a>
 著者        Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW
 タイトル      Biallelic mutations in human DCC cause developmental split-brain syndrome.
 雑誌        Nat Genet 49:606-612 (2017)
 DOI:<a href=""https://doi.org/10.1038/ng.3804"">10.1038/ng.3804</a>"
H02451,フコシル化の欠損を伴う先天性グリコシル化異常症,,,"Congenital disorder of glycosylation with defective fucosylation (CDGF) a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation requires both the generation of the donor substrate GDP-fucose and the presence of a set of fucosyltransferases.",先天性代謝異常症,,"(CDGF1) FUT8 [HSA:2530] [KO:K00717]
 (CDGF2) FCSK [HSA:197258] [KO:K05305]",,,,,,"ICD-11: 5C54.Y
 ICD-10: E77.8
 MeSH: D018981
 OMIM: 618805 618324","PMID:29304374
 著者        Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
 タイトル      Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
 雑誌        Am J Hum Genet 102:188-195 (2018)
 DOI:10.1016/j.ajhg.2017.12.009
 PMID:30503518
 著者        Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH
 タイトル      Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
 雑誌        Am J Hum Genet 103:1030-1037 (2018)
 DOI:10.1016/j.ajhg.2018.10.021
 PMID:32049367
 著者        Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH
 タイトル      Expanding the molecular and clinical phenotypes of FUT8-CDG.
 雑誌        J Inherit Metab Dis 43:871-879 (2020)
 DOI:10.1002/jimd.12221","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02451"">H02451</a>",フコシル化の欠損を伴う先天性グリコシル化異常症,"Congenital disorder of glycosylation with defective fucosylation (CDGF) a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation requires both the generation of the donor substrate GDP-fucose and the presence of a set of fucosyltransferases.",,"(CDGF1) FUT8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2530"">2530</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00717"">K00717</a>]
 (CDGF2) FCSK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:197258"">197258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05305"">K05305</a>]",,,,,,"ICD-11: 5C54.Y
 ICD-10: E77.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D018981"">D018981</a>
 OMIM: <a href=""https://www.omim.org/entry/618805"">618805</a> <a href=""https://www.omim.org/entry/618324"">618324</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29304374"">29304374</a>
 著者        Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
 タイトル      Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
 雑誌        Am J Hum Genet 102:188-195 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.12.009"">10.1016/j.ajhg.2017.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30503518"">30503518</a>
 著者        Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH
 タイトル      Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
 雑誌        Am J Hum Genet 103:1030-1037 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.021"">10.1016/j.ajhg.2018.10.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32049367"">32049367</a>
 著者        Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH
 タイトル      Expanding the molecular and clinical phenotypes of FUT8-CDG.
 雑誌        J Inherit Metab Dis 43:871-879 (2020)
 DOI:<a href=""https://doi.org/10.1002/jimd.12221"">10.1002/jimd.12221</a>"
H02452,筋肥大,,,"Muscle hypertrophy (MSLHP) is defined as an increase in muscle mass, as a result of an increase in the size of pre-existing muscle fibers. A myostatin mutation in a child with muscle hypertrophy has been identified. Myostatin, a member of the TGF-beta superfamily, is a potent negative regulator of skeletal muscle growth. Myostatin inactivation can induce muscle hypertrophy.",筋骨格疾患,,MSTN [HSA:2660] [KO:K05497],,,,,,"ICD-11: FB32.Y
 ICD-10: M62.8
 MeSH: C536106
 OMIM: 614160","PMID:15342814
 著者        Catipovic B
 タイトル      Myostatin mutation associated with gross muscle hypertrophy in a child.
 雑誌        N Engl J Med 351:1030-1; author reply 1030-1 (2004)
 DOI:10.1056/NEJM200409023511018
 PMID:25080109
 著者        Rodriguez J, Vernus B, Chelh I, Cassar-Malek I, Gabillard JC, Hadj Sassi A, Seiliez I, Picard B, Bonnieu A
 タイトル      Myostatin and the skeletal muscle atrophy and hypertrophy signaling pathways.
 雑誌        Cell Mol Life Sci 71:4361-71 (2014)
 DOI:10.1007/s00018-014-1689-x
 PMID:16087388
 著者        Glass DJ
 タイトル      Skeletal muscle hypertrophy and atrophy signaling pathways.
 雑誌        Int J Biochem Cell Biol 37:1974-84 (2005)
 DOI:10.1016/j.biocel.2005.04.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02452"">H02452</a>",筋肥大,"Muscle hypertrophy (MSLHP) is defined as an increase in muscle mass, as a result of an increase in the size of pre-existing muscle fibers. A myostatin mutation in a child with muscle hypertrophy has been identified. Myostatin, a member of the TGF-beta superfamily, is a potent negative regulator of skeletal muscle growth. Myostatin inactivation can induce muscle hypertrophy.",,"MSTN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2660"">2660</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05497"">K05497</a>]",,,,,,"ICD-11: FB32.Y
 ICD-10: M62.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536106"">C536106</a>
 OMIM: <a href=""https://www.omim.org/entry/614160"">614160</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15342814"">15342814</a>
 著者        Catipovic B
 タイトル      Myostatin mutation associated with gross muscle hypertrophy in a child.
 雑誌        N Engl J Med 351:1030-1; author reply 1030-1 (2004)
 DOI:<a href=""https://doi.org/10.1056/NEJM200409023511018"">10.1056/NEJM200409023511018</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25080109"">25080109</a>
 著者        Rodriguez J, Vernus B, Chelh I, Cassar-Malek I, Gabillard JC, Hadj Sassi A, Seiliez I, Picard B, Bonnieu A
 タイトル      Myostatin and the skeletal muscle atrophy and hypertrophy signaling pathways.
 雑誌        Cell Mol Life Sci 71:4361-71 (2014)
 DOI:<a href=""https://doi.org/10.1007/s00018-014-1689-x"">10.1007/s00018-014-1689-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16087388"">16087388</a>
 著者        Glass DJ
 タイトル      Skeletal muscle hypertrophy and atrophy signaling pathways.
 雑誌        Int J Biochem Cell Biol 37:1974-84 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.biocel.2005.04.018"">10.1016/j.biocel.2005.04.018</a>"
H02453,先天性心疾患および外胚葉異形成,,,"Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular functions.",先天奇形,,PRKD1 [HSA:5587] [KO:K06070],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 617364","PMID:27479907
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:10.1038/ng.3627","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02453"">H02453</a>",先天性心疾患および外胚葉異形成,"Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular functions.",,"PRKD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5587"">5587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06070"">K06070</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/617364"">617364</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27479907"">27479907</a>
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3627"">10.1038/ng.3627</a>"
H02454,先天性心疾患・ 顔異形および知的発達障害,,,"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations affecting the protein kinase domain of CDK13 cause this syndrome.",先天奇形,,CDK13 [HSA:8621] [KO:K08819],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 617360","PMID:29021403
 著者        Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M
 タイトル      Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
 雑誌        J Med Genet 55:28-38 (2018)
 DOI:10.1136/jmedgenet-2017-104620
 PMID:27479907
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:10.1038/ng.3627","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02454"">H02454</a>",先天性心疾患・ 顔異形および知的発達障害,"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations affecting the protein kinase domain of CDK13 cause this syndrome.",,"CDK13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8621"">8621</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08819"">K08819</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/617360"">617360</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29021403"">29021403</a>
 著者        Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M
 タイトル      Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
 雑誌        J Med Genet 55:28-38 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104620"">10.1136/jmedgenet-2017-104620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27479907"">27479907</a>
 著者        Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
 タイトル      Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
 雑誌        Nat Genet 48:1060-5 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3627"">10.1038/ng.3627</a>"
H02455,"先天性心疾患・舌の過誤腫および多合指症;
 Ostravik-Lindemann-Solberg 症候群",,,"Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the aorta with or without atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis.",先天奇形,,WDPCP [HSA:51057] [KO:K22863],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535849
 OMIM: 217085","PMID:28289185
 著者        Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L, Thauvin-Robinet C
 タイトル      Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
 雑誌        J Med Genet 54:371-380 (2017)
 DOI:10.1136/jmedgenet-2016-104436
 PMID:1516223
 著者        Orstavik KH, Lindemann R, Solberg LA, Foerster A, Sorland SJ
 タイトル      Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother.
 雑誌        Clin Genet 42:19-21 (1992)
 DOI:10.1111/j.1399-0004.1992.tb03129.x
 PMID:25427950
 著者        Saari J, Lovell MA, Yu HC, Bellus GA
 タイトル      Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
 雑誌        Am J Med Genet A 167A:421-7 (2015)
 DOI:10.1002/ajmg.a.36852","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02455"">H02455</a>","先天性心疾患・舌の過誤腫および多合指症;
 Ostravik-Lindemann-Solberg 症候群","Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the aorta with or without atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis.",,"WDPCP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51057"">51057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22863"">K22863</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535849"">C535849</a>
 OMIM: <a href=""https://www.omim.org/entry/217085"">217085</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28289185"">28289185</a>
 著者        Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L, Thauvin-Robinet C
 タイトル      Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
 雑誌        J Med Genet 54:371-380 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2016-104436"">10.1136/jmedgenet-2016-104436</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/1516223"">1516223</a>
 著者        Orstavik KH, Lindemann R, Solberg LA, Foerster A, Sorland SJ
 タイトル      Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother.
 雑誌        Clin Genet 42:19-21 (1992)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.1992.tb03129.x"">10.1111/j.1399-0004.1992.tb03129.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25427950"">25427950</a>
 著者        Saari J, Lovell MA, Yu HC, Bellus GA
 タイトル      Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
 雑誌        Am J Med Genet A 167A:421-7 (2015)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36852"">10.1002/ajmg.a.36852</a>"
H02456,"外胚葉形成異常
 下位グループ    発汗低下を伴う先天性外胚葉形成異常 (ECTD1/10/11/12) [DS:H00651]
 外胚葉形成異常 Clouston 型 (ECTD2) [DS:H00648]
 ウィットコップ症候群 (ECTD3) [DS:H00643]
 外胚葉形成異常 毛髪・爪型 (ECTD4/7/9/13) [DS:H00649]
 顔異形および肢端、眼球、脳の異常を伴う外胚葉形成異常 (EDFAOB)",,,"Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various subtypes.",先天奇形,,"(ECTD14) TSPEAR [HSA:54084] [KO:K24437]
 (ECTD15) CST6 [HSA:1474] [KO:K13902]
 (EDFAOB) RHOA [HSA:387] [KO:K04513]",,,,,,"ICD-11: LD27.02
 ICD-10: Q82.4
 MeSH: D004476
 OMIM: 618180 618535 618727","PMID:27736875
 著者        Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E
 タイトル      Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
 雑誌        PLoS Genet 12:e1006369 (2016)
 DOI:10.1371/journal.pgen.1006369
 PMID:30425301
 著者        van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ, Jansen PAM, Peppelman M, van Erp PEJ, Atalay S, Venselaar H, Simon MEH, Joosten M, Schalkwijk J, Zeeuwen PLJM
 タイトル      Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
 雑誌        Genet Med 21:1559-1567 (2019)
 DOI:10.1038/s41436-018-0355-3
 PMID:22359143
 著者        Yildirim M, Yorgancilar E, Gun R, Topcu I
 タイトル      Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.
 雑誌        Ear Nose Throat J 91:E28-33 (2012)
 DOI:10.1177/014556131209100221
 PMID:31570889
 著者        Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Genevieve D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Riviere JB
 タイトル      Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
 雑誌        Nat Genet 51:1438-1441 (2019)
 DOI:10.1038/s41588-019-0498-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02456"">H02456</a>","外胚葉形成異常
 下位グループ    発汗低下を伴う先天性外胚葉形成異常 (ECTD1/10/11/12) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00651"">H00651</a>]
 外胚葉形成異常 Clouston 型 (ECTD2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00648"">H00648</a>]
 ウィットコップ症候群 (ECTD3) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00643"">H00643</a>]
 外胚葉形成異常 毛髪・爪型 (ECTD4/7/9/13) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00649"">H00649</a>]
 顔異形および肢端、眼球、脳の異常を伴う外胚葉形成異常 (EDFAOB)","Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various subtypes.",,"(ECTD14) TSPEAR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54084"">54084</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24437"">K24437</a>]
 (ECTD15) CST6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1474"">1474</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13902"">K13902</a>]
 (EDFAOB) RHOA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387"">387</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04513"">K04513</a>]",,,,,,"ICD-11: LD27.02
 ICD-10: Q82.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D004476"">D004476</a>
 OMIM: <a href=""https://www.omim.org/entry/618180"">618180</a> <a href=""https://www.omim.org/entry/618535"">618535</a> <a href=""https://www.omim.org/entry/618727"">618727</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27736875"">27736875</a>
 著者        Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E
 タイトル      Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
 雑誌        PLoS Genet 12:e1006369 (2016)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006369"">10.1371/journal.pgen.1006369</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30425301"">30425301</a>
 著者        van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ, Jansen PAM, Peppelman M, van Erp PEJ, Atalay S, Venselaar H, Simon MEH, Joosten M, Schalkwijk J, Zeeuwen PLJM
 タイトル      Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
 雑誌        Genet Med 21:1559-1567 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0355-3"">10.1038/s41436-018-0355-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22359143"">22359143</a>
 著者        Yildirim M, Yorgancilar E, Gun R, Topcu I
 タイトル      Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.
 雑誌        Ear Nose Throat J 91:E28-33 (2012)
 DOI:<a href=""https://doi.org/10.1177/014556131209100221"">10.1177/014556131209100221</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31570889"">31570889</a>
 著者        Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Genevieve D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Riviere JB
 タイトル      Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
 雑誌        Nat Genet 51:1438-1441 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41588-019-0498-4"">10.1038/s41588-019-0498-4</a>"
H02457,"発育遅延、白質脳症および神経学的代償不全
 下位グループ    白質脳症、運動発達遅滞、拘縮および構音障害 (LEMSPAD)
 白質脳症、発育遅延および発作性神経退行 (LEUDEN)",,,"Developmental delay, leukoencephalopathy, and neurologic decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis in response to physiologic stress conditions.",神経系疾患,,"(LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194]
 (LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195]",,,,,,"ICD-11: 8A4Y
 ICD-10: G93.8
 OMIM: 618878 618877","PMID:32197074
 著者        Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Kury S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT
 タイトル      De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
 雑誌        Am J Hum Genet 106:570-583 (2020)
 DOI:10.1016/j.ajhg.2020.02.016","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02457"">H02457</a>","発育遅延、白質脳症および神経学的代償不全
 下位グループ    白質脳症、運動発達遅滞、拘縮および構音障害 (LEMSPAD)
 白質脳症、発育遅延および発作性神経退行 (LEUDEN)","Developmental delay, leukoencephalopathy, and neurologic decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis in response to physiologic stress conditions.",,"(LEMSPAD) EIF2AK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27102"">27102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16194"">K16194</a>]
 (LEUDEN) EIF2AK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5610"">5610</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16195"">K16195</a>]",,,,,,"ICD-11: 8A4Y
 ICD-10: G93.8
 OMIM: <a href=""https://www.omim.org/entry/618878"">618878</a> <a href=""https://www.omim.org/entry/618877"">618877</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32197074"">32197074</a>
 著者        Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Kury S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT
 タイトル      De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
 雑誌        Am J Hum Genet 106:570-583 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.016"">10.1016/j.ajhg.2020.02.016</a>"
H02458,"シルビウス水道の先天性狭窄による水頭症;
 X 連鎖性水頭症
 上位グループ    L1 症候群 [DS:H01034]
 先天性水頭症 [DS:H01677]",,,Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene.,先天奇形,,L1CAM [HSA:3897] [KO:K06550],,,,,,"ICD-11: LA04
 ICD-10: Q03
 MeSH: D006849
 OMIM: 307000","PMID:500393
 著者        Habib Z
 タイトル      Neonatal X-linked hydrocephalus. Findings in two affected brothers.
 雑誌        Hereditas 91:79-82 (1979)
 DOI:10.1111/j.1601-5223.1979.tb01644.x
 PMID:30365056
 著者        Xie B, Luo J, Lei Y, Yang Q, Li M, Yi S, Luo S, Wang J, Qin Z, Yang Z, Wei H, Fan X
 タイトル      Two novel pathogenic variants of L1CAM gene in two fetuses with isolated Xlinked hydrocephaly: A case report.
 雑誌        Mol Med Rep 18:5760-5764 (2018)
 DOI:10.3892/mmr.2018.9583","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02458"">H02458</a>","シルビウス水道の先天性狭窄による水頭症;
 X 連鎖性水頭症
 上位グループ    L1 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01034"">H01034</a>]
 先天性水頭症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01677"">H01677</a>]",Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene.,,"L1CAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3897"">3897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06550"">K06550</a>]",,,,,,"ICD-11: LA04
 ICD-10: Q03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D006849"">D006849</a>
 OMIM: <a href=""https://www.omim.org/entry/307000"">307000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/500393"">500393</a>
 著者        Habib Z
 タイトル      Neonatal X-linked hydrocephalus. Findings in two affected brothers.
 雑誌        Hereditas 91:79-82 (1979)
 DOI:<a href=""https://doi.org/10.1111/j.1601-5223.1979.tb01644.x"">10.1111/j.1601-5223.1979.tb01644.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30365056"">30365056</a>
 著者        Xie B, Luo J, Lei Y, Yang Q, Li M, Yi S, Luo S, Wang J, Qin Z, Yang Z, Wei H, Fan X
 タイトル      Two novel pathogenic variants of L1CAM gene in two fetuses with isolated Xlinked hydrocephaly: A case report.
 雑誌        Mol Med Rep 18:5760-5764 (2018)
 DOI:<a href=""https://doi.org/10.3892/mmr.2018.9583"">10.3892/mmr.2018.9583</a>"
H02459,"症候群性神経発達障害
 下位グループ    運動異常や筋緊張低下を伴う神経発達障害 [DS:H02397]
 顔異形を伴う神経発達障害 [DS:H02535]
 小頭症を伴う神経発達障害 [DS:H02461]
 脳の構造異常を伴う神経発達障害 [DS:H02470]
 失語症と様々な痙攣発作を伴う神経発達障害 (NEDALVS)
 中枢性および末梢性運動機能障害を伴う神経発達障害 (NEDCPMD)
 知的発達障害、筋緊張低下および運動失調を伴う神経発達障害 (NEDIDHA)
 発話障害および多動性運動を伴う神経発達障害 (NEDISHM)
 退行、異常運動、失語症および痙攣発作を伴う神経発達障害 (NEDAMSS)
 痙攣発作および言語・歩行障害を伴う神経発達障害 (NEDSSWI)
 重度の運動障害および失語症を伴う神経発達障害 (NEDMIAL)
 拘縮および成長不良を伴う神経発達障害 (NEDSG)
 乳児点頭てんかんを伴う神経発達障害 (NEDIES)
 運動および発話遅滞と行動異常を伴う神経発達障害 (NEDMOSBA)
 痙攣と歯肉過成長を伴う神経発達障害 (NEDSGO)
 早期発症全般てんかんを伴う神経発達障害 (NEDEGE)",,,Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes have been identified to date.,神経系疾患,,"(NEDALVS) WASF1 [HSA:8936] [KO:K05753]
 (NEDCPMD) NFASC [HSA:23114] [KO:K06757]
 (NEDIDHA) DOCK3 [HSA:1795] [KO:K05727]
 (NEDISHM) ZNF142 [HSA:7701] [KO:K24851]
 (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383]
 (NEDSSWI) DHPS [HSA:1725] [KO:K00809]
 (NEDMIAL) DHX30 [HSA:22907] [KO:K13185]
 (NEDSG) UFC1 [HSA:51506] [KO:K12165]
 (NEDIES) NCDN [HSA:23154]
 (NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726]
 (NEDSGO) TBC1D2B [HSA:23102] [KO:K20166]
 (NEDEGE) NBEA [HSA:26960] [KO:K24183]",,,,,,"ICD-11: 6A0Y
 OMIM: 618707 618356 618292 618425 618088 618480 617804 617977 618651 618076 619373 619470 619323 619157","PMID:29961568
 著者        Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonca C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S, Raymond FL
 タイトル      De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
 雑誌        Am J Hum Genet 103:144-153 (2018)
 DOI:10.1016/j.ajhg.2018.06.001
 PMID:28763441
 著者        Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS
 タイトル      Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
 雑誌        PLoS Genet 13:e1006923 (2017)
 DOI:10.1371/journal.pgen.1006923
 PMID:19185024
 著者        Pillai AM, Thaxton C, Pribisko AL, Cheng JG, Dupree JL, Bhat MA
 タイトル      Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant  disorganization of axonal domains.
 雑誌        J Neurosci Res 87:1773-93 (2009)
 DOI:10.1002/jnr.22015
 PMID:30976111
 著者        Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M
 タイトル      Variants in DOCK3 cause developmental delay and hypotonia.
 雑誌        Eur J Hum Genet 27:1225-1234 (2019)
 DOI:10.1038/s41431-019-0397-2
 PMID:31036918
 著者        Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havrankova P, Fecikova A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J
 タイトル      Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
 雑誌        Genet Med 21:2532-2542 (2019)
 DOI:10.1038/s41436-019-0523-0
 PMID:30193138
 著者        Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM
 タイトル      IRF2BPL Is Associated with Neurological Phenotypes.
 雑誌        Am J Hum Genet 103:456 (2018)
 DOI:10.1016/j.ajhg.2018.08.010
 PMID:30661771
 著者        Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK
 タイトル      Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 104:287-298 (2019)
 DOI:10.1016/j.ajhg.2018.12.017
 PMID:29304375
 著者        Lessel D, Schob C, Kury S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogne B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bezieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ
 タイトル      De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 102:196 (2018)
 DOI:10.1016/j.ajhg.2017.12.016
 PMID:29868776
 著者        Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzman-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS
 タイトル      Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
 雑誌        Brain 141:1934-1945 (2018)
 DOI:10.1093/brain/awy135
 PMID:31300657
 著者        Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H
 タイトル      AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
 雑誌        Nat Commun 10:3094 (2019)
 DOI:10.1038/s41467-019-10910-w
 PMID:29783990
 著者        Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R
 タイトル      Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
 雑誌        Orphanet J Rare Dis 13:80 (2018)
 DOI:10.1186/s13023-018-0822-6
 PMID:33711248
 著者        Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
 タイトル      Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
 雑誌        Am J Hum Genet 108:739-748 (2021)
 DOI:10.1016/j.ajhg.2021.02.015
 PMID:33824500
 著者        Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H
 タイトル      Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
 雑誌        Genet Med 23:1246-1254 (2021)
 DOI:10.1038/s41436-021-01133-w
 PMID:32623794
 著者        Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K
 タイトル      Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
 雑誌        Hum Mutat 41:1645-1661 (2020)
 DOI:10.1002/humu.24071
 PMID:30269351
 著者        Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S, Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT
 タイトル      NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
 雑誌        Ann Neurol 84:788-795 (2018)
 DOI:10.1002/ana.25350","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>","症候群性神経発達障害
 下位グループ    運動異常や筋緊張低下を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02397"">H02397</a>]
 顔異形を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02535"">H02535</a>]
 小頭症を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02461"">H02461</a>]
 脳の構造異常を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02470"">H02470</a>]
 失語症と様々な痙攣発作を伴う神経発達障害 (NEDALVS)
 中枢性および末梢性運動機能障害を伴う神経発達障害 (NEDCPMD)
 知的発達障害、筋緊張低下および運動失調を伴う神経発達障害 (NEDIDHA)
 発話障害および多動性運動を伴う神経発達障害 (NEDISHM)
 退行、異常運動、失語症および痙攣発作を伴う神経発達障害 (NEDAMSS)
 痙攣発作および言語・歩行障害を伴う神経発達障害 (NEDSSWI)
 重度の運動障害および失語症を伴う神経発達障害 (NEDMIAL)
 拘縮および成長不良を伴う神経発達障害 (NEDSG)
 乳児点頭てんかんを伴う神経発達障害 (NEDIES)
 運動および発話遅滞と行動異常を伴う神経発達障害 (NEDMOSBA)
 痙攣と歯肉過成長を伴う神経発達障害 (NEDSGO)
 早期発症全般てんかんを伴う神経発達障害 (NEDEGE)",Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes have been identified to date.,,"(NEDALVS) WASF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8936"">8936</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05753"">K05753</a>]
 (NEDCPMD) NFASC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23114"">23114</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06757"">K06757</a>]
 (NEDIDHA) DOCK3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1795"">1795</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05727"">K05727</a>]
 (NEDISHM) ZNF142 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7701"">7701</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24851"">K24851</a>]
 (NEDAMSS) IRF2BPL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64207"">64207</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22383"">K22383</a>]
 (NEDSSWI) DHPS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1725"">1725</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00809"">K00809</a>]
 (NEDMIAL) DHX30 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22907"">22907</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13185"">K13185</a>]
 (NEDSG) UFC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51506"">51506</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12165"">K12165</a>]
 (NEDIES) NCDN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23154"">23154</a>]
 (NEDMOSBA) TMEM222 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84065"">84065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20726"">K20726</a>]
 (NEDSGO) TBC1D2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23102"">23102</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20166"">K20166</a>]
 (NEDEGE) NBEA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26960"">26960</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24183"">K24183</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/618707"">618707</a> <a href=""https://www.omim.org/entry/618356"">618356</a> <a href=""https://www.omim.org/entry/618292"">618292</a> <a href=""https://www.omim.org/entry/618425"">618425</a> <a href=""https://www.omim.org/entry/618088"">618088</a> <a href=""https://www.omim.org/entry/618480"">618480</a> <a href=""https://www.omim.org/entry/617804"">617804</a> <a href=""https://www.omim.org/entry/617977"">617977</a> <a href=""https://www.omim.org/entry/618651"">618651</a> <a href=""https://www.omim.org/entry/618076"">618076</a> <a href=""https://www.omim.org/entry/619373"">619373</a> <a href=""https://www.omim.org/entry/619470"">619470</a> <a href=""https://www.omim.org/entry/619323"">619323</a> <a href=""https://www.omim.org/entry/619157"">619157</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29961568"">29961568</a>
 著者        Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonca C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S, Raymond FL
 タイトル      De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
 雑誌        Am J Hum Genet 103:144-153 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.06.001"">10.1016/j.ajhg.2018.06.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28763441"">28763441</a>
 著者        Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS
 タイトル      Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
 雑誌        PLoS Genet 13:e1006923 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006923"">10.1371/journal.pgen.1006923</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19185024"">19185024</a>
 著者        Pillai AM, Thaxton C, Pribisko AL, Cheng JG, Dupree JL, Bhat MA
 タイトル      Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant  disorganization of axonal domains.
 雑誌        J Neurosci Res 87:1773-93 (2009)
 DOI:<a href=""https://doi.org/10.1002/jnr.22015"">10.1002/jnr.22015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30976111"">30976111</a>
 著者        Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M
 タイトル      Variants in DOCK3 cause developmental delay and hypotonia.
 雑誌        Eur J Hum Genet 27:1225-1234 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0397-2"">10.1038/s41431-019-0397-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31036918"">31036918</a>
 著者        Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havrankova P, Fecikova A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J
 タイトル      Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
 雑誌        Genet Med 21:2532-2542 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0523-0"">10.1038/s41436-019-0523-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30193138"">30193138</a>
 著者        Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM
 タイトル      IRF2BPL Is Associated with Neurological Phenotypes.
 雑誌        Am J Hum Genet 103:456 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.08.010"">10.1016/j.ajhg.2018.08.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30661771"">30661771</a>
 著者        Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK
 タイトル      Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 104:287-298 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.017"">10.1016/j.ajhg.2018.12.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29304375"">29304375</a>
 著者        Lessel D, Schob C, Kury S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogne B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bezieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ
 タイトル      De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 102:196 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.12.016"">10.1016/j.ajhg.2017.12.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29868776"">29868776</a>
 著者        Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzman-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS
 タイトル      Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
 雑誌        Brain 141:1934-1945 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy135"">10.1093/brain/awy135</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31300657"">31300657</a>
 著者        Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H
 タイトル      AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
 雑誌        Nat Commun 10:3094 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-10910-w"">10.1038/s41467-019-10910-w</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29783990"">29783990</a>
 著者        Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R
 タイトル      Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
 雑誌        Orphanet J Rare Dis 13:80 (2018)
 DOI:<a href=""https://doi.org/10.1186/s13023-018-0822-6"">10.1186/s13023-018-0822-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33711248"">33711248</a>
 著者        Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
 タイトル      Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
 雑誌        Am J Hum Genet 108:739-748 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.02.015"">10.1016/j.ajhg.2021.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33824500"">33824500</a>
 著者        Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H
 タイトル      Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
 雑誌        Genet Med 23:1246-1254 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-021-01133-w"">10.1038/s41436-021-01133-w</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32623794"">32623794</a>
 著者        Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K
 タイトル      Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
 雑誌        Hum Mutat 41:1645-1661 (2020)
 DOI:<a href=""https://doi.org/10.1002/humu.24071"">10.1002/humu.24071</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30269351"">30269351</a>
 著者        Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S, Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT
 タイトル      NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
 雑誌        Ann Neurol 84:788-795 (2018)
 DOI:<a href=""https://doi.org/10.1002/ana.25350"">10.1002/ana.25350</a>"
H02460,"顔異形と骨格異常を伴う神経発達障害
 下位グループ    顔異形と遠位骨異常を伴う神経発達障害 (NEDDFSA)
 顔異形および軽度の遠位骨異常を伴う神経発達障害 (NEDCFSA)
 顔異形および四肢遠位部の異常を伴う神経発達障害 (NEDDFL)
 小頭症および顔異形を伴う神経発達障害 (NEDMIDF)
 神経発達、顎、目および指症候群 (NEDJED)
 Shashi-Pena 症候群 (SHAPNS)
 Okur-Chung 神経発達症候群 (OCNDS)
 Buratti-Harel 症候群 (BURHAS)
 DEGCAGS 症候群 (DEGCAGS)
 上位グループ    顔異形を伴う神経発達障害 [DS:H02535]
 症候群性神経発達障害 [DS:H02459]",,,Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and skeletal anomalies. Several underlying genetic causes of these diseases have been identified.,先天奇形,,"(NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403]
 (NEDCFSA) KDM6B [HSA:23135] [KO:K11448]
 (NEDDFL) BPTF [HSA:2186] [KO:K11728]
 (NEDMIDF) SPOP [HSA:8405] [KO:K10523]
 (NEDJED) FBXW11 [HSA:23291] [KO:K03362]
 (SHAPNS) ASXL2 [HSA:55252] [KO:K11471]
 (OCNDS) CSNK2A1 [HSA:1457] [KO:K03097]
 (BURHAS) SIAH1 [HSA:6477] [KO:K04506]
 (DEGCAGS) ZNF699 [HSA:374879] [KO:K09228]",,,,,,"ICD-11: 6A0Y
 OMIM: 618659 618505 617755 618828 617190 618914 617062 619314 619488","PMID:30639322 (NEDDFSA)
 著者        Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marcais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Ceraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S
 タイトル      ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 104:319-330 (2019)
 DOI:10.1016/j.ajhg.2018.12.007
 PMID:31124279 (NEDCFSA)
 著者        Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O&#39;Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ
 タイトル      Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
 雑誌        Am J Med Genet A 179:1276-1286 (2019)
 DOI:10.1002/ajmg.a.61173
 PMID:28942966 (NEDDFL)
 著者        Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y
 タイトル      Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
 雑誌        Am J Hum Genet 101:503-515 (2017)
 DOI:10.1016/j.ajhg.2017.08.014
 PMID:32109420 (NEDMIDF)
 著者        Nabais Sa MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA
 タイトル      De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 106:405-411 (2020)
 DOI:10.1016/j.ajhg.2020.02.001
 PMID:31402090 (NEDJED)
 著者        Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sorensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK
 タイトル      De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
 雑誌        Am J Hum Genet 105:640-657 (2019)
 DOI:10.1016/j.ajhg.2019.07.005
 PMID:27693232 (SHAPNS)
 著者        Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F
 タイトル      De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
 雑誌        Am J Hum Genet 99:991-999 (2016)
 DOI:10.1016/j.ajhg.2016.08.017
 PMID:28725024 (OCNDS)
 著者        Trinh J, Huning I, Budler N, Hingst V, Lohmann K, Gillessen-Kaesbach G
 タイトル      A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.
 雑誌        J Hum Genet 62:1005-1006 (2017)
 DOI:10.1038/jhg.2017.73
 PMID:32430360 (BURHAS)
 著者        Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Heron D, Cong F, Harel T
 タイトル      De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
 雑誌        J Med Genet 58:205-212 (2021)
 DOI:10.1136/jmedgenet-2019-106335
 PMID:33875846 (DEGCAGS)
 著者        Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Huning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P
 タイトル      Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
 雑誌        Genet Med 23:1551-1568 (2021)
 DOI:10.1038/s41436-021-01159-0","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02460"">H02460</a>","顔異形と骨格異常を伴う神経発達障害
 下位グループ    顔異形と遠位骨異常を伴う神経発達障害 (NEDDFSA)
 顔異形および軽度の遠位骨異常を伴う神経発達障害 (NEDCFSA)
 顔異形および四肢遠位部の異常を伴う神経発達障害 (NEDDFL)
 小頭症および顔異形を伴う神経発達障害 (NEDMIDF)
 神経発達、顎、目および指症候群 (NEDJED)
 Shashi-Pena 症候群 (SHAPNS)
 Okur-Chung 神経発達症候群 (OCNDS)
 Buratti-Harel 症候群 (BURHAS)
 DEGCAGS 症候群 (DEGCAGS)
 上位グループ    顔異形を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02535"">H02535</a>]
 症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]",Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and skeletal anomalies. Several underlying genetic causes of these diseases have been identified.,,"(NEDDFSA) ZMIZ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57178"">57178</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22403"">K22403</a>]
 (NEDCFSA) KDM6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23135"">23135</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11448"">K11448</a>]
 (NEDDFL) BPTF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2186"">2186</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11728"">K11728</a>]
 (NEDMIDF) SPOP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8405"">8405</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10523"">K10523</a>]
 (NEDJED) FBXW11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23291"">23291</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03362"">K03362</a>]
 (SHAPNS) ASXL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55252"">55252</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11471"">K11471</a>]
 (OCNDS) CSNK2A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1457"">1457</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03097"">K03097</a>]
 (BURHAS) SIAH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6477"">6477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04506"">K04506</a>]
 (DEGCAGS) ZNF699 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374879"">374879</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09228"">K09228</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/618659"">618659</a> <a href=""https://www.omim.org/entry/618505"">618505</a> <a href=""https://www.omim.org/entry/617755"">617755</a> <a href=""https://www.omim.org/entry/618828"">618828</a> <a href=""https://www.omim.org/entry/617190"">617190</a> <a href=""https://www.omim.org/entry/618914"">618914</a> <a href=""https://www.omim.org/entry/617062"">617062</a> <a href=""https://www.omim.org/entry/619314"">619314</a> <a href=""https://www.omim.org/entry/619488"">619488</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30639322"">30639322</a> (NEDDFSA)
 著者        Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marcais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Ceraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S
 タイトル      ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 104:319-330 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.007"">10.1016/j.ajhg.2018.12.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31124279"">31124279</a> (NEDCFSA)
 著者        Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O&#39;Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ
 タイトル      Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
 雑誌        Am J Med Genet A 179:1276-1286 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61173"">10.1002/ajmg.a.61173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28942966"">28942966</a> (NEDDFL)
 著者        Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y
 タイトル      Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
 雑誌        Am J Hum Genet 101:503-515 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.014"">10.1016/j.ajhg.2017.08.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32109420"">32109420</a> (NEDMIDF)
 著者        Nabais Sa MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA
 タイトル      De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 106:405-411 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.001"">10.1016/j.ajhg.2020.02.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31402090"">31402090</a> (NEDJED)
 著者        Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sorensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK
 タイトル      De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
 雑誌        Am J Hum Genet 105:640-657 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.07.005"">10.1016/j.ajhg.2019.07.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27693232"">27693232</a> (SHAPNS)
 著者        Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F
 タイトル      De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
 雑誌        Am J Hum Genet 99:991-999 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.08.017"">10.1016/j.ajhg.2016.08.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28725024"">28725024</a> (OCNDS)
 著者        Trinh J, Huning I, Budler N, Hingst V, Lohmann K, Gillessen-Kaesbach G
 タイトル      A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.
 雑誌        J Hum Genet 62:1005-1006 (2017)
 DOI:<a href=""https://doi.org/10.1038/jhg.2017.73"">10.1038/jhg.2017.73</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32430360"">32430360</a> (BURHAS)
 著者        Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Heron D, Cong F, Harel T
 タイトル      De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
 雑誌        J Med Genet 58:205-212 (2021)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106335"">10.1136/jmedgenet-2019-106335</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33875846"">33875846</a> (DEGCAGS)
 著者        Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Huning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P
 タイトル      Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
 雑誌        Genet Med 23:1551-1568 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-021-01159-0"">10.1038/s41436-021-01159-0</a>"
H02461,"小頭症を伴う神経発達障害
 下位グループ    小頭症、運動失調および痙攣発作を伴う神経発達障害 (NEDMAS)
 小頭症、痙攣発作および大脳皮質萎縮を伴う神経発達障害 (NDMSCA)
 小頭症、言語障害および歩行障害を伴う神経発達障害 (NEDMILEG)
 運動異常と乳酸アシドーシスおよび痙攣を伴うミトコンドリア関連神経発達障害 (NEMMLAS)
 小頭症、てんかんおよび脳萎縮を伴う神経発達障害 (NEDMEBA)
 小頭症、白内障および腎臓の異常を伴う神経発達障害 (NEDMCR)
 進行性小頭症、拘縮および脳奇形を伴う神経発達障害 (NDMSBA)
 小頭症および脳の構造異常を伴う神経発達障害 (NEDMIBA)
 小頭症、関節拘縮および脳の構造異常を伴う神経発達障害 (NEDMABA)
 運動失調、筋緊張低下および小頭症を伴う神経発達障害 (NEDAHM)
 小頭症、大脳皮質奇形および拘縮を伴う神経発達障害 (NEDMCMS)
 小頭症、てんかんおよびミエリン形成不全を伴う神経発達障害 (NEDMEHM)
 小頭症、および顔異形を伴う神経発達障害 (NEDMEHM)
 小頭症、筋緊張低下および様々な脳奇形を伴う神経発達障害 (NMIHBA)
 筋緊張低下、小頭症および痙攣を伴う神経発達障害 (NEDHYMS)
 痙攣および脳萎縮を伴う神経発達障害 (NEDSEBA)
 小頭症、痙攣および脳萎縮を伴う神経発達障害 (NEDMISB)
 痙性四肢麻痺、視神経萎縮、痙攣発作と脳の構造異常を伴う神経発達障害 (NEDSOSB)
 Khan-Khan-Katsanis 症候群 (3KS)
 Baralle-Macken 症候群 (BARMACS)
 上位グループ    症候群性神経発達障害 [DS:H02459]",,,Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes of these diseases have been identified.,先天奇形,,"(NEDMAS) SARS1 [HSA:6301] [KO:K01875]
 (NDMSCA) VARS1 [HSA:7407] [KO:K01873]
 (NEDMILEG) NARS1 [HSA:4677] [KO:K01893]
 (NEMMLAS) WARS2 [HSA:10352] [KO:K01867]
 (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
 (NEDMCR) GEMIN4 [HSA:50628] [KO:K13132]
 (NDMSBA) PLAA [HSA:9373] [KO:K14018]
 (NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415]
 (NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
 (NEDAHM) SVBP [HSA:374969] [KO:K23357]
 (NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
 (NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
 (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
 (NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
 (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
 (NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
 (NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
 (3KS) NCAPG2 [HSA:54892] [KO:K11492]
 (BARMACS) COPB1 [HSA:1315] [KO:K17301]",,,,,,"ICD-11: 6A0Y LD20.2
 OMIM: 617709 617802 619091 617710 617862 617913 617527 618492 618622 618569 618730 618367 617481 618862 619072 619076 618651 618460 619255","PMID:28236339 (NEDMAS)
 著者        Musante L, Puttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW
 タイトル      Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
 雑誌        Hum Mutat 38:621-636 (2017)
 DOI:10.1002/humu.23205
 PMID:29691655 (NDMSCA)
 著者        Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV
 タイトル      Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
 雑誌        Hum Genet 137:293-303 (2018)
 DOI:10.1007/s00439-018-1882-3
 PMID:32738225 (NEDMILEG)
 著者        Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bahler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshoj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H
 タイトル      De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
 雑誌        Am J Hum Genet 107:311-324 (2020)
 DOI:10.1016/j.ajhg.2020.06.016
 PMID:28650581 (NEMMLAS)
 著者        Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A
 タイトル      Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
 雑誌        Am J Med Genet A 173:2505-2510 (2017)
 DOI:10.1002/ajmg.a.38339
 PMID:28626029 (NEDMEBA)
 著者        Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG
 タイトル      A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
 雑誌        J Med Genet 55:48-54 (2018)
 DOI:10.1136/jmedgenet-2017-104627
 PMID:27878435 (NEDMCR)
 著者        Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
 タイトル      Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
 雑誌        Hum Genet 136:205-225 (2017)
 DOI:10.1007/s00439-016-1747-6
 PMID:28413018 (NDMSBA)
 著者        Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P
 タイトル      PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
 雑誌        Am J Hum Genet 100:706-724 (2017)
 DOI:10.1016/j.ajhg.2017.03.008
 PMID:31079899 (NEDMIBA)
 著者        Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE
 タイトル      Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
 雑誌        Am J Hum Genet 104:1073-1087 (2019)
 DOI:10.1016/j.ajhg.2019.04.002
 PMID:31495489 (NEDMABA)
 著者        Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS
 タイトル      Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
 雑誌        Am J Hum Genet 105:689-705 (2019)
 DOI:10.1016/j.ajhg.2019.08.006
 PMID:30607023 (NEDAHM)
 著者        Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R
 タイトル      Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.
 雑誌        Genet Med 21:1790-1796 (2019)
 DOI:10.1038/s41436-018-0415-8
 PMID:31586943 (NEDMCMS)
 著者        Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG
 タイトル      Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
 雑誌        J Med Genet 57:274-282 (2020)
 DOI:10.1136/jmedgenet-2019-106409
 PMID:30031689 (NEDMEHM)
 著者        Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT
 タイトル      5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
 雑誌        Mol Genet Metab 125:118-126 (2018)
 DOI:10.1016/j.ymgme.2018.06.006
 PMID:28334956 (NMIHBA)
 著者        Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL
 タイトル      PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
 雑誌        Brain 140:940-952 (2017)
 DOI:10.1093/brain/awx014
 PMID:32220291 (NEDHYMS)
 著者        Tan TY, Sedmik J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA
 タイトル      Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
 雑誌        Am J Hum Genet 106:467-483 (2020)
 DOI:10.1016/j.ajhg.2020.02.015
 PMID:30464055 (NEDSOSB)
 著者        Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS
 タイトル      SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
 雑誌        J Med Genet 56:139-148 (2019)
 DOI:10.1136/jmedgenet-2018-105503
 PMID:32103185 (NEDSEBA, NEDMISB)
 著者        Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Muna Al-Saffar, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA
 タイトル      Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
 雑誌        Genet Med 22:1040-1050 (2020)
 DOI:10.1038/s41436-020-0758-9
 PMID:30609410 (3KS)
 著者        Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N
 タイトル      Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
 雑誌        Am J Hum Genet 104:94-111 (2019)
 DOI:10.1016/j.ajhg.2018.11.017
 PMID:33632302 (BARMACS)
 著者        Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D
 タイトル      Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
 雑誌        Genome Med 13:34 (2021)
 DOI:10.1186/s13073-021-00850-w","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02461"">H02461</a>","小頭症を伴う神経発達障害
 下位グループ    小頭症、運動失調および痙攣発作を伴う神経発達障害 (NEDMAS)
 小頭症、痙攣発作および大脳皮質萎縮を伴う神経発達障害 (NDMSCA)
 小頭症、言語障害および歩行障害を伴う神経発達障害 (NEDMILEG)
 運動異常と乳酸アシドーシスおよび痙攣を伴うミトコンドリア関連神経発達障害 (NEMMLAS)
 小頭症、てんかんおよび脳萎縮を伴う神経発達障害 (NEDMEBA)
 小頭症、白内障および腎臓の異常を伴う神経発達障害 (NEDMCR)
 進行性小頭症、拘縮および脳奇形を伴う神経発達障害 (NDMSBA)
 小頭症および脳の構造異常を伴う神経発達障害 (NEDMIBA)
 小頭症、関節拘縮および脳の構造異常を伴う神経発達障害 (NEDMABA)
 運動失調、筋緊張低下および小頭症を伴う神経発達障害 (NEDAHM)
 小頭症、大脳皮質奇形および拘縮を伴う神経発達障害 (NEDMCMS)
 小頭症、てんかんおよびミエリン形成不全を伴う神経発達障害 (NEDMEHM)
 小頭症、および顔異形を伴う神経発達障害 (NEDMEHM)
 小頭症、筋緊張低下および様々な脳奇形を伴う神経発達障害 (NMIHBA)
 筋緊張低下、小頭症および痙攣を伴う神経発達障害 (NEDHYMS)
 痙攣および脳萎縮を伴う神経発達障害 (NEDSEBA)
 小頭症、痙攣および脳萎縮を伴う神経発達障害 (NEDMISB)
 痙性四肢麻痺、視神経萎縮、痙攣発作と脳の構造異常を伴う神経発達障害 (NEDSOSB)
 Khan-Khan-Katsanis 症候群 (3KS)
 Baralle-Macken 症候群 (BARMACS)
 上位グループ    症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]",Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes of these diseases have been identified.,,"(NEDMAS) SARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6301"">6301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01875"">K01875</a>]
 (NDMSCA) VARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7407"">7407</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01873"">K01873</a>]
 (NEDMILEG) NARS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4677"">4677</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01893"">K01893</a>]
 (NEMMLAS) WARS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10352"">10352</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01867"">K01867</a>]
 (NEDMEBA) TRAPPC6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:122553"">122553</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20304"">K20304</a>]
 (NEDMCR) GEMIN4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50628"">50628</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13132"">K13132</a>]
 (NDMSBA) PLAA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9373"">9373</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14018"">K14018</a>]
 (NEDMIBA) DYNC1I2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1781"">1781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10415"">K10415</a>]
 (NEDMABA) SMPD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55627"">55627</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12353"">K12353</a>]
 (NEDAHM) SVBP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:374969"">374969</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23357"">K23357</a>]
 (NEDMCMS) TMX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51075"">51075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25112"">K25112</a>]
 (NEDMEHM) MTHFS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10588"">10588</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01934"">K01934</a>]
 (NMIHBA) PRUNE1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58497"">58497</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01514"">K01514</a>]
 (NEDHYMS) ADARB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:104"">104</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13194"">K13194</a>]
 (NEDSEBA) EXOC7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23265"">23265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07195"">K07195</a>]
 (NEDMISB) EXOC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:149371"">149371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19986"">K19986</a>]
 (NEDSOSB) SEC31A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22872"">22872</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14005"">K14005</a>]
 (3KS) NCAPG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54892"">54892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11492"">K11492</a>]
 (BARMACS) COPB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1315"">1315</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17301"">K17301</a>]",,,,,,"ICD-11: 6A0Y LD20.2
 OMIM: <a href=""https://www.omim.org/entry/617709"">617709</a> <a href=""https://www.omim.org/entry/617802"">617802</a> <a href=""https://www.omim.org/entry/619091"">619091</a> <a href=""https://www.omim.org/entry/617710"">617710</a> <a href=""https://www.omim.org/entry/617862"">617862</a> <a href=""https://www.omim.org/entry/617913"">617913</a> <a href=""https://www.omim.org/entry/617527"">617527</a> <a href=""https://www.omim.org/entry/618492"">618492</a> <a href=""https://www.omim.org/entry/618622"">618622</a> <a href=""https://www.omim.org/entry/618569"">618569</a> <a href=""https://www.omim.org/entry/618730"">618730</a> <a href=""https://www.omim.org/entry/618367"">618367</a> <a href=""https://www.omim.org/entry/617481"">617481</a> <a href=""https://www.omim.org/entry/618862"">618862</a> <a href=""https://www.omim.org/entry/619072"">619072</a> <a href=""https://www.omim.org/entry/619076"">619076</a> <a href=""https://www.omim.org/entry/618651"">618651</a> <a href=""https://www.omim.org/entry/618460"">618460</a> <a href=""https://www.omim.org/entry/619255"">619255</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28236339"">28236339</a> (NEDMAS)
 著者        Musante L, Puttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW
 タイトル      Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
 雑誌        Hum Mutat 38:621-636 (2017)
 DOI:<a href=""https://doi.org/10.1002/humu.23205"">10.1002/humu.23205</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29691655"">29691655</a> (NDMSCA)
 著者        Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV
 タイトル      Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
 雑誌        Hum Genet 137:293-303 (2018)
 DOI:<a href=""https://doi.org/10.1007/s00439-018-1882-3"">10.1007/s00439-018-1882-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32738225"">32738225</a> (NEDMILEG)
 著者        Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bahler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshoj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H
 タイトル      De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
 雑誌        Am J Hum Genet 107:311-324 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.06.016"">10.1016/j.ajhg.2020.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28650581"">28650581</a> (NEMMLAS)
 著者        Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A
 タイトル      Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
 雑誌        Am J Med Genet A 173:2505-2510 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38339"">10.1002/ajmg.a.38339</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28626029"">28626029</a> (NEDMEBA)
 著者        Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG
 タイトル      A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
 雑誌        J Med Genet 55:48-54 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104627"">10.1136/jmedgenet-2017-104627</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27878435"">27878435</a> (NEDMCR)
 著者        Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
 タイトル      Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
 雑誌        Hum Genet 136:205-225 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1747-6"">10.1007/s00439-016-1747-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28413018"">28413018</a> (NDMSBA)
 著者        Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P
 タイトル      PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
 雑誌        Am J Hum Genet 100:706-724 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.03.008"">10.1016/j.ajhg.2017.03.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31079899"">31079899</a> (NEDMIBA)
 著者        Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE
 タイトル      Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
 雑誌        Am J Hum Genet 104:1073-1087 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.04.002"">10.1016/j.ajhg.2019.04.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31495489"">31495489</a> (NEDMABA)
 著者        Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS
 タイトル      Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
 雑誌        Am J Hum Genet 105:689-705 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.08.006"">10.1016/j.ajhg.2019.08.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30607023"">30607023</a> (NEDAHM)
 著者        Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R
 タイトル      Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.
 雑誌        Genet Med 21:1790-1796 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0415-8"">10.1038/s41436-018-0415-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31586943"">31586943</a> (NEDMCMS)
 著者        Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG
 タイトル      Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
 雑誌        J Med Genet 57:274-282 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106409"">10.1136/jmedgenet-2019-106409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30031689"">30031689</a> (NEDMEHM)
 著者        Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT
 タイトル      5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
 雑誌        Mol Genet Metab 125:118-126 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2018.06.006"">10.1016/j.ymgme.2018.06.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28334956"">28334956</a> (NMIHBA)
 著者        Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL
 タイトル      PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
 雑誌        Brain 140:940-952 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx014"">10.1093/brain/awx014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32220291"">32220291</a> (NEDHYMS)
 著者        Tan TY, Sedmik J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA
 タイトル      Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
 雑誌        Am J Hum Genet 106:467-483 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.015"">10.1016/j.ajhg.2020.02.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30464055"">30464055</a> (NEDSOSB)
 著者        Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS
 タイトル      SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
 雑誌        J Med Genet 56:139-148 (2019)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105503"">10.1136/jmedgenet-2018-105503</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32103185"">32103185</a> (NEDSEBA, <a href=""https://pubmed.ncbi.nlm.nih.gov/NEDMISB)"">NEDMISB)</a>
 著者        Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Muna Al-Saffar, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA
 タイトル      Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
 雑誌        Genet Med 22:1040-1050 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-0758-9"">10.1038/s41436-020-0758-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30609410"">30609410</a> (3KS)
 著者        Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N
 タイトル      Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
 雑誌        Am J Hum Genet 104:94-111 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.11.017"">10.1016/j.ajhg.2018.11.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33632302"">33632302</a> (BARMACS)
 著者        Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D
 タイトル      Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
 雑誌        Genome Med 13:34 (2021)
 DOI:<a href=""https://doi.org/10.1186/s13073-021-00850-w"">10.1186/s13073-021-00850-w</a>"
H02462,"脊椎骨端異形成
 下位グループ    先天性脊椎骨端異形成 [DS:H00519]
 偽軟骨異形成症 [DS:H00477]
 遅発性脊椎骨端異形成 [DS:H00760]
 進行性偽リウマチ性異形成 [DS:H00758]
 先天性関節脱臼を伴う脊椎骨端異形成 [DS:H00762]
 脊椎骨端異形成 キンバリー型 [DS:H00765]
 Roifman 症候群 [DS:H01575]
 脊椎骨端異形成 Maroteaux 型 [DS:H02186]
 脊椎骨端異形成 Kondo-Fu 型 (SEDKF)
 脊椎骨端異形成 Nishimura 型 (SEDKN)",,,"Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita, pseudoachondroplasia, and SED tarda.",先天奇形,,"(SEDKF) MBTPS1 [HSA:8720] [KO:K08653]
 (SEDKN) MIR140 [HSA:406932] [KO:K17145]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: D010009
 OMIM: 618392 618618","PMID:24416601
 著者        Singhal A, Singhal P, Gupta R, Jarial KD
 タイトル      True generalized microdontia and hypodontia with spondyloepiphyseal dysplasia.
 雑誌        Case Rep Dent 2013:685781 (2013)
 DOI:10.1155/2013/685781
 PMID:30046013
 著者        Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L
 タイトル      Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
 雑誌        JCI Insight 3:121596 (2018)
 DOI:10.1172/jci.insight.121596
 PMID:30804514
 著者        Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjo A, Marsk E, Nordgren A, Nordenskjold M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T
 タイトル      Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
 雑誌        Nat Med 25:583-590 (2019)
 DOI:10.1038/s41591-019-0353-2","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02462"">H02462</a>","脊椎骨端異形成
 下位グループ    先天性脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00519"">H00519</a>]
 偽軟骨異形成症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00477"">H00477</a>]
 遅発性脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00760"">H00760</a>]
 進行性偽リウマチ性異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00758"">H00758</a>]
 先天性関節脱臼を伴う脊椎骨端異形成 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00762"">H00762</a>]
 脊椎骨端異形成 キンバリー型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00765"">H00765</a>]
 Roifman 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01575"">H01575</a>]
 脊椎骨端異形成 Maroteaux 型 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02186"">H02186</a>]
 脊椎骨端異形成 Kondo-Fu 型 (SEDKF)
 脊椎骨端異形成 Nishimura 型 (SEDKN)","Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita, pseudoachondroplasia, and SED tarda.",,"(SEDKF) MBTPS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8720"">8720</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08653"">K08653</a>]
 (SEDKN) MIR140 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:406932"">406932</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17145"">K17145</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q77.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010009"">D010009</a>
 OMIM: <a href=""https://www.omim.org/entry/618392"">618392</a> <a href=""https://www.omim.org/entry/618618"">618618</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24416601"">24416601</a>
 著者        Singhal A, Singhal P, Gupta R, Jarial KD
 タイトル      True generalized microdontia and hypodontia with spondyloepiphyseal dysplasia.
 雑誌        Case Rep Dent 2013:685781 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/685781"">10.1155/2013/685781</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30046013"">30046013</a>
 著者        Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L
 タイトル      Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
 雑誌        JCI Insight 3:121596 (2018)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.121596"">10.1172/jci.insight.121596</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30804514"">30804514</a>
 著者        Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjo A, Marsk E, Nordgren A, Nordenskjold M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T
 タイトル      Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
 雑誌        Nat Med 25:583-590 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41591-019-0353-2"">10.1038/s41591-019-0353-2</a>"
H02463,"症候群性知的発達障害
 下位グループ    低身長を伴う知的発達障害 [DS:H02346]
 自閉症と言葉の遅れを伴う知的発達障害 [DS:H02371]
 知的発達障害および網膜色素変性 (IDDRP)
 不整脈を伴う知的発達障害 (IDDCA)
 心臓奇形および顔異形を伴う知的発達障害 (IDDCDF)
 顔異形および眼瞼下垂を伴う知的発達障害 (IDDFP)
 顔異形、痙攣発作および四肢遠位部の異常を伴う知的発達障害 (IDDFSDA)
 高胎児ヘモグロビン症を伴う知的発達障害 (DILOS)
 行動異常、頭蓋顔面異形症および痙攣を伴う知的発達障害 (IDDBCS)
 顔異形と行動異常を伴う知的発達障害 (IDDFBA)
 てんかん、行動異常および顔異形を伴う知的発達障害 (IDDEBF)
 眼隔離症および特有の顔貌を伴う知的発達障害 (IDDHDF)
 筋緊張低下および行動異常を伴う知的発達障害 (IDDHBA)
 言語障害および顔異形を伴う知的発達障害 (IDDILF)
 小頭症、痙攣発作および言葉の遅れを伴う知的発達障害 (IDDMSSD)
 鼻声、顔異形および骨格異常を伴う知的発達障害 (IDNADFS)
 精神神経の症状を伴う知的発達障害 (IDDNPF)
 てんかんまたは小脳失調を伴う知的発達障害 (IDDECA)
 痙攣発作および言語遅滞伴う知的発達障害 (IDDSELD)
 重症の言語および歩行運動障害を伴う知的発達障害 (IDDSSAD)
 顔異形、言葉の遅れおよびT細胞の異常を伴う知的発達障害 (IDDFSTA)
 顔異形、多毛症、てんかん、知的発達障害および歯肉異常増殖 (FHEIG)
 様々な知的障害および行動異常を伴う成長遅滞 (DDVIBA)
 成長遅滞、知的障害、肥満および異形症 (DIDOD)
 筋緊張低下、低換気、知的発達障害、自立神経失調症、てんかんおよび目の異常 (HIDEA)
 成長不良および痙攣や運動失調を伴う ADD (IDPOGSA)
 筋緊張低下、発話障害および顔異形を伴う知的発達障害 (IDDHISD)
 発作性ジスキネジアや痙攣を伴う知的発達障害 (IDDPADS)
 言葉の遅れおよび軸索型末梢神経障害を伴う知的発達障害 (IDDSAPN)
 Chopra-Amiel-Gordon 症候群 (CAGS)
 知的障害や行動異常を伴う成長遅滞 (DDIB)",,,Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital anomalies. Several underlying genetic causes of these disorders have been identified.,精神及び行動の障害,,"(IDDRP) SCAPER [HSA:49855] [KO:K24869]
 (IDDCA) GNB5 [HSA:10681] [KO:K04539]
 (IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
 (IDDFP) BRPF1 [HSA:7862] [KO:K11348]
 (IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
 (IDDGIP) PPM1D [HSA:8493] [KO:K10147]
 (DILOS) BCL11A [HSA:53335] [KO:K22045]
 (IDDBCS) PHF21A [HSA:51317] [KO:K24651]
 (IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
 (IDDEBF) ALG14 [HSA:199857] [KO:K07441]
 (IDDHDF) CCNK [HSA:8812] [KO:K23326]
 (IDDHBA) CDK8 [HSA:1024] [KO:K02208]
 (IDDILF) DDX6 [HSA:1656] [KO:K12614]
 (IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
 (IDNADFS) CNOT2 [HSA:4848] [KO:K12605]
 (IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
 (IDDECA) RORA [HSA:6095] [KO:K08532]
 (IDDSELD) SETD1B [HSA:23067] [KO:K11422]
 (IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
 (IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
 (IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
 (FHEIG) KCNK4 [HSA:50801] [KO:K04915]
 (DDVIBA) TCF20 [HSA:6942] [KO:K24769]
 (DIDOD) PHIP [HSA:55023] [KO:K11797]
 (HIDEA) P4HTM [HSA:54681] [KO:K06711]
 (IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
 (IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
 (IDDPADS) PDE2A [HSA:5138] [KO:K18283]
 (IDDSAPN) NEMF [HSA:9147] [KO:K24971]
 (CAGS) ANKRD17 [HSA:26057] [KO:K16726]
 (DDIB) TAOK1 [HSA:57551] [KO:K04429]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: D008607
 OMIM: 618195 617173 618316 617333 617452 617450 617101 618725 618089 619031 618147 618748 618653 618158 618608 617532 618060 619000 618470 618092 618381 618430 617991 618493 618808 619556 619150 619099 619504 619575","PMID:28794130
 著者        Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T
 タイトル      Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
 雑誌        J Med Genet 54:698-704 (2017)
 DOI:10.1136/jmedgenet-2017-104632
 PMID:27523599
 著者        Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
 タイトル      GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
 雑誌        Am J Hum Genet 99:704-710 (2016)
 DOI:10.1016/j.ajhg.2016.06.025
 PMID:30526868
 著者        Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV
 タイトル      Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
 雑誌        Am J Hum Genet 103:948-967 (2018)
 DOI:10.1016/j.ajhg.2018.11.001
 PMID:27939639
 著者        Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A
 タイトル      Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
 雑誌        Am J Hum Genet 100:105-116 (2017)
 DOI:10.1016/j.ajhg.2016.11.010
 PMID:28343629
 著者        Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA
 タイトル      Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
 雑誌        Am J Hum Genet 100:676-688 (2017)
 DOI:10.1016/j.ajhg.2017.03.001
 PMID:28343630
 著者        Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Lord CJ, Vissers LE, de Vries BB
 タイトル      De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
 雑誌        Am J Hum Genet 100:650-658 (2017)
 DOI:10.1016/j.ajhg.2017.02.005
 PMID:27453576
 著者        Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW
 タイトル      BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
 雑誌        Am J Hum Genet 99:253-74 (2016)
 DOI:10.1016/j.ajhg.2016.05.030
 PMID:31649809
 著者        Kim HG, Rosenfeld JA, Scott DA, Benedicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Ruschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH
 タイトル      Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
 雑誌        Mol Autism 10:35 (2019)
 DOI:10.1186/s13229-019-0286-0
 PMID:30057029
 著者        Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogne B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, Reis A, Sticht H, Zweier C
 タイトル      De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 103:305-316 (2018)
 DOI:10.1016/j.ajhg.2018.07.003
 PMID:22012619
 著者        Blazek D, Kohoutek J, Bartholomeeusen K, Johansen E, Hulinkova P, Luo Z, Cimermancic P, Ule J, Peterlin BM
 タイトル      The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.
 雑誌        Genes Dev 25:2158-72 (2011)
 DOI:10.1101/gad.16962311
 PMID:30905399
 著者        Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM
 タイトル      De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
 雑誌        Am J Hum Genet 104:709-720 (2019)
 DOI:10.1016/j.ajhg.2019.02.006
 PMID:31422817
 著者        Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A
 タイトル      Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
 雑誌        Am J Hum Genet 105:509-525 (2019)
 DOI:10.1016/j.ajhg.2019.07.010
 PMID:28434495
 著者        Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL
 タイトル      Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
 雑誌        Am J Hum Genet 100:824-830 (2017)
 DOI:10.1016/j.ajhg.2017.03.009
 PMID:29656859
 著者        Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Ounap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carre W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L, Kury S
 タイトル      Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
 雑誌        Am J Hum Genet 102:744-759 (2018)
 DOI:10.1016/j.ajhg.2018.02.021
 PMID:31685013
 著者        Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM
 タイトル      A genome-wide DNA methylation signature for SETD1B-related syndrome.
 雑誌        Clin Epigenetics 11:156 (2019)
 DOI:10.1186/s13148-019-0749-3
 PMID:31031012
 著者        Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
 タイトル      Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
 雑誌        Am J Hum Genet 104:815-834 (2019)
 DOI:10.1016/j.ajhg.2019.03.022
 PMID:29985992
 著者        Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Ludecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C
 タイトル      BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
 雑誌        Brain 141:2299-2311 (2018)
 DOI:10.1093/brain/awy173
 PMID:30290154
 著者        Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M
 タイトル      Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
 雑誌        Am J Hum Genet 103:621-630 (2018)
 DOI:10.1016/j.ajhg.2018.09.001
 PMID:27436265
 著者        Schafgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiss M, Aretz S, Strom TM, Wieczorek D, Engels H
 タイトル      De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
 雑誌        Eur J Hum Genet 24:1739-1745 (2016)
 DOI:10.1038/ejhg.2016.90
 PMID:29209020
 著者        Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA
 タイトル      A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
 雑誌        Eur J Hum Genet 26:54-63 (2018)
 DOI:10.1038/s41431-017-0039-5
 PMID:30940925
 著者        Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Vaisanen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J
 タイトル      Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
 雑誌        Genet Med 21:2355-2363 (2019)
 DOI:10.1038/s41436-019-0503-4
 PMID:30237576
 著者        Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS
 タイトル      Autozygome and high throughput confirmation of disease genes candidacy.
 雑誌        Genet Med 21:736-742 (2019)
 DOI:10.1038/s41436-018-0138-x
 PMID:34314705
 著者        Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK
 タイトル      TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
 雑誌        Am J Hum Genet 108:1669-1691 (2021)
 DOI:10.1016/j.ajhg.2021.06.019
 PMID:32467598
 著者        Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bar S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G
 タイトル      Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
 雑誌        Eur J Hum Genet 28:1403-1413 (2020)
 DOI:10.1038/s41431-020-0641-9
 PMID:33048237
 著者        Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z
 タイトル      Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
 雑誌        Hum Genet 140:579-592 (2021)
 DOI:10.1007/s00439-020-02226-3
 PMID:33909992
 著者        Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortum F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernandez-Jaen A, Pelayo JP, Klockner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT
 タイトル      Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
 雑誌        Am J Hum Genet 108:1138-1150 (2021)
 DOI:10.1016/j.ajhg.2021.04.007
 PMID:31230721
 著者        Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K
 タイトル      De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 105:213-220 (2019)
 DOI:10.1016/j.ajhg.2019.05.005","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02463"">H02463</a>","症候群性知的発達障害
 下位グループ    低身長を伴う知的発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02346"">H02346</a>]
 自閉症と言葉の遅れを伴う知的発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02371"">H02371</a>]
 知的発達障害および網膜色素変性 (IDDRP)
 不整脈を伴う知的発達障害 (IDDCA)
 心臓奇形および顔異形を伴う知的発達障害 (IDDCDF)
 顔異形および眼瞼下垂を伴う知的発達障害 (IDDFP)
 顔異形、痙攣発作および四肢遠位部の異常を伴う知的発達障害 (IDDFSDA)
 高胎児ヘモグロビン症を伴う知的発達障害 (DILOS)
 行動異常、頭蓋顔面異形症および痙攣を伴う知的発達障害 (IDDBCS)
 顔異形と行動異常を伴う知的発達障害 (IDDFBA)
 てんかん、行動異常および顔異形を伴う知的発達障害 (IDDEBF)
 眼隔離症および特有の顔貌を伴う知的発達障害 (IDDHDF)
 筋緊張低下および行動異常を伴う知的発達障害 (IDDHBA)
 言語障害および顔異形を伴う知的発達障害 (IDDILF)
 小頭症、痙攣発作および言葉の遅れを伴う知的発達障害 (IDDMSSD)
 鼻声、顔異形および骨格異常を伴う知的発達障害 (IDNADFS)
 精神神経の症状を伴う知的発達障害 (IDDNPF)
 てんかんまたは小脳失調を伴う知的発達障害 (IDDECA)
 痙攣発作および言語遅滞伴う知的発達障害 (IDDSELD)
 重症の言語および歩行運動障害を伴う知的発達障害 (IDDSSAD)
 顔異形、言葉の遅れおよびT細胞の異常を伴う知的発達障害 (IDDFSTA)
 顔異形、多毛症、てんかん、知的発達障害および歯肉異常増殖 (FHEIG)
 様々な知的障害および行動異常を伴う成長遅滞 (DDVIBA)
 成長遅滞、知的障害、肥満および異形症 (DIDOD)
 筋緊張低下、低換気、知的発達障害、自立神経失調症、てんかんおよび目の異常 (HIDEA)
 成長不良および痙攣や運動失調を伴う ADD (IDPOGSA)
 筋緊張低下、発話障害および顔異形を伴う知的発達障害 (IDDHISD)
 発作性ジスキネジアや痙攣を伴う知的発達障害 (IDDPADS)
 言葉の遅れおよび軸索型末梢神経障害を伴う知的発達障害 (IDDSAPN)
 Chopra-Amiel-Gordon 症候群 (CAGS)
 知的障害や行動異常を伴う成長遅滞 (DDIB)",Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital anomalies. Several underlying genetic causes of these disorders have been identified.,,"(IDDRP) SCAPER [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:49855"">49855</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24869"">K24869</a>]
 (IDDCA) GNB5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10681"">10681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04539"">K04539</a>]
 (IDDCDF) TMEM94 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9772"">9772</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25291"">K25291</a>]
 (IDDFP) BRPF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7862"">7862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11348"">K11348</a>]
 (IDDFSDA) OTUD6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51633"">51633</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18342"">K18342</a>]
 (IDDGIP) PPM1D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8493"">8493</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10147"">K10147</a>]
 (DILOS) BCL11A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53335"">53335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22045"">K22045</a>]
 (IDDBCS) PHF21A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51317"">51317</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24651"">K24651</a>]
 (IDDFBA) FBXO11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80204"">80204</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10297"">K10297</a>]
 (IDDEBF) ALG14 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:199857"">199857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07441"">K07441</a>]
 (IDDHDF) CCNK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8812"">8812</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23326"">K23326</a>]
 (IDDHBA) CDK8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1024"">1024</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02208"">K02208</a>]
 (IDDILF) DDX6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1656"">1656</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12614"">K12614</a>]
 (IDDMSSD) PAK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5058"">5058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04409"">K04409</a>]
 (IDNADFS) CNOT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4848"">4848</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12605"">K12605</a>]
 (IDDNPF) SLC45A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50651"">50651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15378"">K15378</a>]
 (IDDECA) RORA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6095"">6095</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08532"">K08532</a>]
 (IDDSELD) SETD1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23067"">23067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11422"">K11422</a>]
 (IDDHISD) TNPO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30000"">30000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18727"">K18727</a>]
 (IDDSSAD) ACTL6B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51412"">51412</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11652"">K11652</a>]
 (IDDFSTA) BCL11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64919"">64919</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22046"">K22046</a>]
 (FHEIG) KCNK4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50801"">50801</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04915"">K04915</a>]
 (DDVIBA) TCF20 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6942"">6942</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24769"">K24769</a>]
 (DIDOD) PHIP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55023"">55023</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11797"">K11797</a>]
 (HIDEA) P4HTM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54681"">54681</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06711"">K06711</a>]
 (IDPOGSA) ABCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:20"">20</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05642"">K05642</a>]
 (IDDHISD) TNPO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:30000"">30000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18727"">K18727</a>]
 (IDDPADS) PDE2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5138"">5138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18283"">K18283</a>]
 (IDDSAPN) NEMF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9147"">9147</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24971"">K24971</a>]
 (CAGS) ANKRD17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26057"">26057</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16726"">K16726</a>]
 (DDIB) TAOK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57551"">57551</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04429"">K04429</a>]",,,,,,"ICD-11: 6A00
 ICD-10: F78.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008607"">D008607</a>
 OMIM: <a href=""https://www.omim.org/entry/618195"">618195</a> <a href=""https://www.omim.org/entry/617173"">617173</a> <a href=""https://www.omim.org/entry/618316"">618316</a> <a href=""https://www.omim.org/entry/617333"">617333</a> <a href=""https://www.omim.org/entry/617452"">617452</a> <a href=""https://www.omim.org/entry/617450"">617450</a> <a href=""https://www.omim.org/entry/617101"">617101</a> <a href=""https://www.omim.org/entry/618725"">618725</a> <a href=""https://www.omim.org/entry/618089"">618089</a> <a href=""https://www.omim.org/entry/619031"">619031</a> <a href=""https://www.omim.org/entry/618147"">618147</a> <a href=""https://www.omim.org/entry/618748"">618748</a> <a href=""https://www.omim.org/entry/618653"">618653</a> <a href=""https://www.omim.org/entry/618158"">618158</a> <a href=""https://www.omim.org/entry/618608"">618608</a> <a href=""https://www.omim.org/entry/617532"">617532</a> <a href=""https://www.omim.org/entry/618060"">618060</a> <a href=""https://www.omim.org/entry/619000"">619000</a> <a href=""https://www.omim.org/entry/618470"">618470</a> <a href=""https://www.omim.org/entry/618092"">618092</a> <a href=""https://www.omim.org/entry/618381"">618381</a> <a href=""https://www.omim.org/entry/618430"">618430</a> <a href=""https://www.omim.org/entry/617991"">617991</a> <a href=""https://www.omim.org/entry/618493"">618493</a> <a href=""https://www.omim.org/entry/618808"">618808</a> <a href=""https://www.omim.org/entry/619556"">619556</a> <a href=""https://www.omim.org/entry/619150"">619150</a> <a href=""https://www.omim.org/entry/619099"">619099</a> <a href=""https://www.omim.org/entry/619504"">619504</a> <a href=""https://www.omim.org/entry/619575"">619575</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28794130"">28794130</a>
 著者        Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T
 タイトル      Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
 雑誌        J Med Genet 54:698-704 (2017)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104632"">10.1136/jmedgenet-2017-104632</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27523599"">27523599</a>
 著者        Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
 タイトル      GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
 雑誌        Am J Hum Genet 99:704-710 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.025"">10.1016/j.ajhg.2016.06.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30526868"">30526868</a>
 著者        Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV
 タイトル      Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
 雑誌        Am J Hum Genet 103:948-967 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.11.001"">10.1016/j.ajhg.2018.11.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27939639"">27939639</a>
 著者        Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A
 タイトル      Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
 雑誌        Am J Hum Genet 100:105-116 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.11.010"">10.1016/j.ajhg.2016.11.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28343629"">28343629</a>
 著者        Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA
 タイトル      Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
 雑誌        Am J Hum Genet 100:676-688 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.03.001"">10.1016/j.ajhg.2017.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28343630"">28343630</a>
 著者        Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Lord CJ, Vissers LE, de Vries BB
 タイトル      De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
 雑誌        Am J Hum Genet 100:650-658 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.02.005"">10.1016/j.ajhg.2017.02.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27453576"">27453576</a>
 著者        Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sanchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW
 タイトル      BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
 雑誌        Am J Hum Genet 99:253-74 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.05.030"">10.1016/j.ajhg.2016.05.030</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31649809"">31649809</a>
 著者        Kim HG, Rosenfeld JA, Scott DA, Benedicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Ruschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH
 タイトル      Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
 雑誌        Mol Autism 10:35 (2019)
 DOI:<a href=""https://doi.org/10.1186/s13229-019-0286-0"">10.1186/s13229-019-0286-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30057029"">30057029</a>
 著者        Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogne B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, Reis A, Sticht H, Zweier C
 タイトル      De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 103:305-316 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.07.003"">10.1016/j.ajhg.2018.07.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22012619"">22012619</a>
 著者        Blazek D, Kohoutek J, Bartholomeeusen K, Johansen E, Hulinkova P, Luo Z, Cimermancic P, Ule J, Peterlin BM
 タイトル      The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.
 雑誌        Genes Dev 25:2158-72 (2011)
 DOI:<a href=""https://doi.org/10.1101/gad.16962311"">10.1101/gad.16962311</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30905399"">30905399</a>
 著者        Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM
 タイトル      De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
 雑誌        Am J Hum Genet 104:709-720 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.006"">10.1016/j.ajhg.2019.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31422817"">31422817</a>
 著者        Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A
 タイトル      Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
 雑誌        Am J Hum Genet 105:509-525 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.07.010"">10.1016/j.ajhg.2019.07.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28434495"">28434495</a>
 著者        Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL
 タイトル      Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
 雑誌        Am J Hum Genet 100:824-830 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.03.009"">10.1016/j.ajhg.2017.03.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29656859"">29656859</a>
 著者        Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Ounap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carre W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L, Kury S
 タイトル      Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
 雑誌        Am J Hum Genet 102:744-759 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.02.021"">10.1016/j.ajhg.2018.02.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31685013"">31685013</a>
 著者        Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM
 タイトル      A genome-wide DNA methylation signature for SETD1B-related syndrome.
 雑誌        Clin Epigenetics 11:156 (2019)
 DOI:<a href=""https://doi.org/10.1186/s13148-019-0749-3"">10.1186/s13148-019-0749-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31031012"">31031012</a>
 著者        Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM
 タイトル      Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
 雑誌        Am J Hum Genet 104:815-834 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.03.022"">10.1016/j.ajhg.2019.03.022</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29985992"">29985992</a>
 著者        Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Ludecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C
 タイトル      BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
 雑誌        Brain 141:2299-2311 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy173"">10.1093/brain/awy173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30290154"">30290154</a>
 著者        Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M
 タイトル      Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
 雑誌        Am J Hum Genet 103:621-630 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.09.001"">10.1016/j.ajhg.2018.09.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27436265"">27436265</a>
 著者        Schafgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiss M, Aretz S, Strom TM, Wieczorek D, Engels H
 タイトル      De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
 雑誌        Eur J Hum Genet 24:1739-1745 (2016)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2016.90"">10.1038/ejhg.2016.90</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29209020"">29209020</a>
 著者        Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA
 タイトル      A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
 雑誌        Eur J Hum Genet 26:54-63 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0039-5"">10.1038/s41431-017-0039-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30940925"">30940925</a>
 著者        Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Vaisanen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J
 タイトル      Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
 雑誌        Genet Med 21:2355-2363 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0503-4"">10.1038/s41436-019-0503-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30237576"">30237576</a>
 著者        Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS
 タイトル      Autozygome and high throughput confirmation of disease genes candidacy.
 雑誌        Genet Med 21:736-742 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0138-x"">10.1038/s41436-018-0138-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34314705"">34314705</a>
 著者        Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK
 タイトル      TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
 雑誌        Am J Hum Genet 108:1669-1691 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.06.019"">10.1016/j.ajhg.2021.06.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32467598"">32467598</a>
 著者        Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bar S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G
 タイトル      Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
 雑誌        Eur J Hum Genet 28:1403-1413 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41431-020-0641-9"">10.1038/s41431-020-0641-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33048237"">33048237</a>
 著者        Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z
 タイトル      Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
 雑誌        Hum Genet 140:579-592 (2021)
 DOI:<a href=""https://doi.org/10.1007/s00439-020-02226-3"">10.1007/s00439-020-02226-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33909992"">33909992</a>
 著者        Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortum F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernandez-Jaen A, Pelayo JP, Klockner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT
 タイトル      Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
 雑誌        Am J Hum Genet 108:1138-1150 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.04.007"">10.1016/j.ajhg.2021.04.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31230721"">31230721</a>
 著者        Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K
 タイトル      De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 105:213-220 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.05.005"">10.1016/j.ajhg.2019.05.005</a>"
H02464,Poretti-Boltshauser 症候群,,,"Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease.",先天奇形,,LAMA1 [HSA:284217] [KO:K05637],,,,,,"ICD-11: LD20.0Y
 ICD-10: G11.1
 OMIM: 615960","PMID:25105227
 著者        Aldinger KA, Mosca SJ, Tetreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D
 タイトル      Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
 雑誌        Am J Hum Genet 95:227-34 (2014)
 DOI:10.1016/j.ajhg.2014.07.007
 PMID:24013853
 著者        Poretti A, Hausler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
 タイトル      Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
 雑誌        Cerebellum 13:79-88 (2014)
 DOI:10.1007/s12311-013-0521-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02464"">H02464</a>",Poretti-Boltshauser 症候群,"Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease.",,"LAMA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284217"">284217</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05637"">K05637</a>]",,,,,,"ICD-11: LD20.0Y
 ICD-10: G11.1
 OMIM: <a href=""https://www.omim.org/entry/615960"">615960</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25105227"">25105227</a>
 著者        Aldinger KA, Mosca SJ, Tetreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D
 タイトル      Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
 雑誌        Am J Hum Genet 95:227-34 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.07.007"">10.1016/j.ajhg.2014.07.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24013853"">24013853</a>
 著者        Poretti A, Hausler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
 タイトル      Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
 雑誌        Cerebellum 13:79-88 (2014)
 DOI:<a href=""https://doi.org/10.1007/s12311-013-0521-8"">10.1007/s12311-013-0521-8</a>"
H02465,Weiss-Kruszka 症候群,,,"Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome.",先天奇形,,ZNF462 [HSA:58499] [KO:K24853],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: 618619","PMID:31361404
 著者        Kruszka P, Hu T, Hong S, Signer R, Cogne B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M
 タイトル      Phenotype delineation of ZNF462 related syndrome.
 雑誌        Am J Med Genet A 179:2075-2082 (2019)
 DOI:10.1002/ajmg.a.61306
 PMID:28513610
 著者        Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P
 タイトル      Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
 雑誌        Eur J Hum Genet 25:946-951 (2017)
 DOI:10.1038/ejhg.2017.86","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02465"">H02465</a>",Weiss-Kruszka 症候群,"Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome.",,"ZNF462 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:58499"">58499</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24853"">K24853</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618619"">618619</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31361404"">31361404</a>
 著者        Kruszka P, Hu T, Hong S, Signer R, Cogne B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M
 タイトル      Phenotype delineation of ZNF462 related syndrome.
 雑誌        Am J Med Genet A 179:2075-2082 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61306"">10.1002/ajmg.a.61306</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28513610"">28513610</a>
 著者        Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P
 タイトル      Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
 雑誌        Eur J Hum Genet 25:946-951 (2017)
 DOI:<a href=""https://doi.org/10.1038/ejhg.2017.86"">10.1038/ejhg.2017.86</a>"
H02466,Rajab 間質性肺疾患および脳石灰化,,,"Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases cause this disease.",呼吸器系疾患,,"(RILDBC1) FARSB [HSA:10056] [KO:K01890]
 (RILDBC2) FARSA [HSA:2193] [KO:K01889]",,,,,,"ICD-11: CB05.Y
 OMIM: 613658 619013","PMID:19161147
 著者        Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME
 タイトル      Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
 雑誌        Am J Med Genet A 149A:129-37 (2009)
 DOI:10.1002/ajmg.a.32630
 PMID:29573043
 著者        Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW
 タイトル      Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
 雑誌        Hum Mutat 39:834-840 (2018)
 DOI:10.1002/humu.23424
 PMID:31355908
 著者        Krenke K, Szczaluba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Ploski R
 タイトル      FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
 雑誌        Clin Genet 96:468-472 (2019)
 DOI:10.1111/cge.13614","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02466"">H02466</a>",Rajab 間質性肺疾患および脳石灰化,"Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases cause this disease.",,"(RILDBC1) FARSB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10056"">10056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01890"">K01890</a>]
 (RILDBC2) FARSA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2193"">2193</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01889"">K01889</a>]",,,,,,"ICD-11: CB05.Y
 OMIM: <a href=""https://www.omim.org/entry/613658"">613658</a> <a href=""https://www.omim.org/entry/619013"">619013</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19161147"">19161147</a>
 著者        Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME
 タイトル      Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
 雑誌        Am J Med Genet A 149A:129-37 (2009)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.32630"">10.1002/ajmg.a.32630</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29573043"">29573043</a>
 著者        Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW
 タイトル      Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
 雑誌        Hum Mutat 39:834-840 (2018)
 DOI:<a href=""https://doi.org/10.1002/humu.23424"">10.1002/humu.23424</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31355908"">31355908</a>
 著者        Krenke K, Szczaluba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Ploski R
 タイトル      FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
 雑誌        Clin Genet 96:468-472 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13614"">10.1111/cge.13614</a>"
H02467,新生児炎症性皮膚および腸疾患,,,"Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.",免疫系疾患,,"(NISBD1) ADAM17 [HSA:6868] [KO:K06059]
 (NISBD2) EGFR [HSA:1956] [KO:K04361]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: 614328 616069","PMID:22010916
 著者        Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
 タイトル      Inflammatory skin and bowel disease linked to ADAM17 deletion.
 雑誌        N Engl J Med 365:1502-8 (2011)
 DOI:10.1056/NEJMoa1100721
 PMID:24691054
 著者        Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA
 タイトル      Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
 雑誌        J Invest Dermatol 134:2570-2578 (2014)
 DOI:10.1038/jid.2014.164","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02467"">H02467</a>",新生児炎症性皮膚および腸疾患,"Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.",,"(NISBD1) ADAM17 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6868"">6868</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06059"">K06059</a>]
 (NISBD2) EGFR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1956"">1956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04361"">K04361</a>]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/614328"">614328</a> <a href=""https://www.omim.org/entry/616069"">616069</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22010916"">22010916</a>
 著者        Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
 タイトル      Inflammatory skin and bowel disease linked to ADAM17 deletion.
 雑誌        N Engl J Med 365:1502-8 (2011)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1100721"">10.1056/NEJMoa1100721</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24691054"">24691054</a>
 著者        Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA
 タイトル      Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
 雑誌        J Invest Dermatol 134:2570-2578 (2014)
 DOI:<a href=""https://doi.org/10.1038/jid.2014.164"">10.1038/jid.2014.164</a>"
H02468,幼児期発症進行性白質ジストロフィー,,,"Early childhood-onset progressive leukodystrophy (PLDECO) is a rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain.",先天性代謝異常症,,ACER3 [HSA:55331] [KO:K04711],,,,,,"ICD-11: 5C56.0Y
 ICD-10: E75.3
 OMIM: 617762","PMID:26792856
 著者        Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O
 タイトル      Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
 雑誌        J Med Genet 53:389-96 (2016)
 DOI:10.1136/jmedgenet-2015-103457","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02468"">H02468</a>",幼児期発症進行性白質ジストロフィー,"Early childhood-onset progressive leukodystrophy (PLDECO) is a rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain.",,"ACER3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55331"">55331</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04711"">K04711</a>]",,,,,,"ICD-11: 5C56.0Y
 ICD-10: E75.3
 OMIM: <a href=""https://www.omim.org/entry/617762"">617762</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26792856"">26792856</a>
 著者        Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O
 タイトル      Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
 雑誌        J Med Genet 53:389-96 (2016)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2015-103457"">10.1136/jmedgenet-2015-103457</a>"
H02469,"錐体杆体シナプス異常
 下位グループ    錐体杆体シナプス異常症候群 (CRSDS)",,,"Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic involvement.",神経系疾患,,"(CRSD) CABP4 [HSA:57010] [KO:K23531]
 (CRSDS) RIMS2 [HSA:9699] [KO:K15297]",,,,,,"ICD-11: 9B7Y
 ICD-10: H53.8
 OMIM: 610427 618970","PMID:19074807
 著者        Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI
 タイトル      A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
 雑誌        Invest Ophthalmol Vis Sci 50:2344-50 (2009)
 DOI:10.1167/iovs.08-2553
 PMID:24332535
 著者        Khan AO
 タイトル      CABP4 mutations do not cause congenital stationary night blindness.
 雑誌        Ophthalmology 121:e15 (2014)
 DOI:10.1016/j.ophtha.2013.11.005
 PMID:32470375
 著者        Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
 タイトル      Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
 雑誌        Am J Hum Genet 106:859-871 (2020)
 DOI:10.1016/j.ajhg.2020.04.018","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02469"">H02469</a>","錐体杆体シナプス異常
 下位グループ    錐体杆体シナプス異常症候群 (CRSDS)","Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic involvement.",,"(CRSD) CABP4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57010"">57010</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23531"">K23531</a>]
 (CRSDS) RIMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9699"">9699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15297"">K15297</a>]",,,,,,"ICD-11: 9B7Y
 ICD-10: H53.8
 OMIM: <a href=""https://www.omim.org/entry/610427"">610427</a> <a href=""https://www.omim.org/entry/618970"">618970</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19074807"">19074807</a>
 著者        Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI
 タイトル      A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
 雑誌        Invest Ophthalmol Vis Sci 50:2344-50 (2009)
 DOI:<a href=""https://doi.org/10.1167/iovs.08-2553"">10.1167/iovs.08-2553</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24332535"">24332535</a>
 著者        Khan AO
 タイトル      CABP4 mutations do not cause congenital stationary night blindness.
 雑誌        Ophthalmology 121:e15 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ophtha.2013.11.005"">10.1016/j.ophtha.2013.11.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32470375"">32470375</a>
 著者        Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
 タイトル      Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
 雑誌        Am J Hum Genet 106:859-871 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.04.018"">10.1016/j.ajhg.2020.04.018</a>"
H02470,"脳の構造異常を伴う神経発達障害
 下位グループ    RERE 関連神経発達症候群 [DS:H02305]
 言語発達遅滞と脳の構造異常を伴う神経発達障害 (NEDLBA)
 失調性歩行、失語症および大脳白質減少を伴う神経発達障害 (NDAGSCW)
 脳形態異常、脊椎や心臓の形態異常を伴う神経発達障害 (NEDBAVC)
 小脳低形成および拘縮を伴う神経発達障害 (NEDCHS)
 小脳萎縮および痙攣発作を伴う神経発達障害 (NEDCAS)
 てんかんおよび脳梁低形成を伴う神経発達障害 (NEDEHCC)
 非特異性脳異常および痙攣発作を伴う神経発達障害 (NEDBAS)
 痙性四肢麻痺および脳奇形と痙攣発作を伴う神経発達障害 (NEDSBAS)
 進行性拘縮および大脳白質異常を伴う神経発達障害 (NEDSWMA)
 視覚障害および脳の構造異常を伴う神経発達障害 (NEDVIBA)
 様々な脳の構造異常を伴う神経発達障害 (NEDBA)
 てんかん、白内障、摂食困難および脳の髄鞘化遅延を伴う神経発達障害 (NECFM)
 中脳と菱脳の奇形を伴う神経発達障害 (NEDMHM)
 痙攣と拘縮を伴う神経発達障害および脳の構造異常 (NEDBASS)
 脱毛と脳の異常を伴う神経発達障害 (NEDABA)
 自閉症の症状と脳の構造異常を伴う神経発達障害 (NEDASB)
 小脳萎縮および運動機能障害を伴う神経発達障害 (NEDCAM)
 拘縮、白内障および小脳低形成を伴う神経発達障害(NEDSCAC)
 心筋症、拘縮および脳の異常を伴う神経発達障害 (NEDCASB)
 難聴、痙攣発作および脳の異常を伴う神経発達障害 (NEDCASB)
 上位グループ    症候群性神経発達障害 [DS:H02459]",,,Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes of these diseases have been identified.,先天奇形,,"(NEDLBA) PPP2CA [HSA:5515] [KO:K04382]
 (NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
 (NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
 (NEDCHS) INTS8 [HSA:55656] [KO:K13145]
 (NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
 (NEDEHCC) LNPK [HSA:80856] [KO:K23292]
 (NEDBAS) DLL1 [HSA:28514] [KO:K06051]
 (NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
 (NEDSWMA) HPDL [HSA:84842] [KO:K24788]
 (NEDVIBA) HK1 [HSA:3098] [KO:K00844]
 (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
 (NECFM) NACC1 [HSA:112939] [KO:K10486]
 (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
 (NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
 (NEDABA) ODC1 [HSA:4953] [KO:K01581]
 (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
 (NEDASB) NOVA2 [HSA:4858] [KO:K14944]
 (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
 (NEDSCAC) MED27 [HSA:9442] [KO:K15170]
 (NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
 (NEDHSB) SPATA5 [HSA:166378] [KO:K14575]",,,,,,"ICD-11: 6A0Y
 OMIM: 618354 617807 618731 618572 618056 618090 618709 617977 619026 618577 618547 618443 617393 617523 618890 619075 618741 618859 619333 619286 619121 616577","PMID:30595372 (NEDLBA)
 著者        Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM
 タイトル      De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental  Disorders.
 雑誌        Am J Hum Genet 104:139-156 (2019)
 DOI:10.1016/j.ajhg.2018.12.002
 PMID:29106825 (NDAGSCW)
 著者        Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R
 タイトル      Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
 雑誌        Am J Hum Genet 101:824-832 (2017)
 DOI:10.1016/j.ajhg.2017.09.015
 PMID:31256877 (NEDBAVC)
 著者        Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR
 タイトル      Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
 雑誌        Am J Hum Genet 105:302-316 (2019)
 DOI:10.1016/j.ajhg.2019.06.001
 PMID:28542170 (NEDCHS)
 著者        Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS
 タイトル      Human mutations in integrator complex subunits link transcriptome integrity to brain development.
 雑誌        PLoS Genet 13:e1006809 (2017)
 DOI:10.1371/journal.pgen.1006809
 PMID:27282546 (NEDCAS)
 著者        Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S
 タイトル      BRAT1 mutations present with a spectrum of clinical severity.
 雑誌        Am J Med Genet A 170:2265-73 (2016)
 DOI:10.1002/ajmg.a.37783
 PMID:31353024 (NEDBAS)
 著者        Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N
 タイトル      Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 105:631-639 (2019)
 DOI:10.1016/j.ajhg.2019.07.002
 PMID:30778173 (NEDVIBA)
 著者        Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK
 タイトル      De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
 雑誌        Eur J Hum Genet 27:1081-1089 (2019)
 DOI:10.1038/s41431-019-0366-9
 PMID:30612693 (NEDBA)
 著者        Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R
 タイトル      De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
 雑誌        Am J Hum Genet 104:203-212 (2019)
 DOI:10.1016/j.ajhg.2018.12.008
 PMID:28132692 (NECFM)
 著者        Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V
 タイトル      A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
 雑誌        Am J Hum Genet 100:343-351 (2017)
 DOI:10.1016/j.ajhg.2016.12.013
 PMID:28453519 (NEDMHM)
 著者        Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hubner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hubner C, Kaindl AM
 タイトル      Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
 雑誌        PLoS Genet 13:e1006746 (2017)
 DOI:10.1371/journal.pgen.1006746
 PMID:29899372 (NEDBASS)
 著者        Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R
 タイトル      Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
 雑誌        Eur J Hum Genet 26:1502-1511 (2018)
 DOI:10.1038/s41431-018-0179-2
 PMID:31794024 (NEDESBA)
 著者        Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J
 タイトル      Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
 雑誌        Brain 143:112-130 (2020)
 DOI:10.1093/brain/awz374
 PMID:32197073 (NEDASB)
 著者        Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A
 タイトル      De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 106:438-452 (2020)
 DOI:10.1016/j.ajhg.2020.02.013
 PMID:33443317 (NEDSCAC)
 著者        Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzalez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y
 タイトル      MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
 雑誌        Ann Neurol 89:828-833 (2021)
 DOI:10.1002/ana.26019
 PMID:33015733 (NEDCASB)
 著者        Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A
 タイトル      Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
 雑誌        Acta Neuropathol 140:971-975 (2020)
 DOI:10.1007/s00401-020-02223-w
 PMID:26299366 (NEDHSB)
 著者        Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK
 タイトル      Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
 雑誌        Am J Hum Genet 97:457-64 (2015)
 DOI:10.1016/j.ajhg.2015.07.014","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02470"">H02470</a>","脳の構造異常を伴う神経発達障害
 下位グループ    RERE 関連神経発達症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02305"">H02305</a>]
 言語発達遅滞と脳の構造異常を伴う神経発達障害 (NEDLBA)
 失調性歩行、失語症および大脳白質減少を伴う神経発達障害 (NDAGSCW)
 脳形態異常、脊椎や心臓の形態異常を伴う神経発達障害 (NEDBAVC)
 小脳低形成および拘縮を伴う神経発達障害 (NEDCHS)
 小脳萎縮および痙攣発作を伴う神経発達障害 (NEDCAS)
 てんかんおよび脳梁低形成を伴う神経発達障害 (NEDEHCC)
 非特異性脳異常および痙攣発作を伴う神経発達障害 (NEDBAS)
 痙性四肢麻痺および脳奇形と痙攣発作を伴う神経発達障害 (NEDSBAS)
 進行性拘縮および大脳白質異常を伴う神経発達障害 (NEDSWMA)
 視覚障害および脳の構造異常を伴う神経発達障害 (NEDVIBA)
 様々な脳の構造異常を伴う神経発達障害 (NEDBA)
 てんかん、白内障、摂食困難および脳の髄鞘化遅延を伴う神経発達障害 (NECFM)
 中脳と菱脳の奇形を伴う神経発達障害 (NEDMHM)
 痙攣と拘縮を伴う神経発達障害および脳の構造異常 (NEDBASS)
 脱毛と脳の異常を伴う神経発達障害 (NEDABA)
 自閉症の症状と脳の構造異常を伴う神経発達障害 (NEDASB)
 小脳萎縮および運動機能障害を伴う神経発達障害 (NEDCAM)
 拘縮、白内障および小脳低形成を伴う神経発達障害(NEDSCAC)
 心筋症、拘縮および脳の異常を伴う神経発達障害 (NEDCASB)
 難聴、痙攣発作および脳の異常を伴う神経発達障害 (NEDCASB)
 上位グループ    症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]",Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes of these diseases have been identified.,,"(NEDLBA) PPP2CA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5515"">5515</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04382"">K04382</a>]
 (NDAGSCW) RAB11B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9230"">9230</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07905"">K07905</a>]
 (NEDBAVC) DHX37 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57647"">57647</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14780"">K14780</a>]
 (NEDCHS) INTS8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55656"">55656</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13145"">K13145</a>]
 (NEDCAS) BRAT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:221927"">221927</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23112"">K23112</a>]
 (NEDEHCC) LNPK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80856"">80856</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23292"">K23292</a>]
 (NEDBAS) DLL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:28514"">28514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06051"">K06051</a>]
 (NEDSBAS) WDR45B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56270"">56270</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22991"">K22991</a>]
 (NEDSWMA) HPDL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84842"">84842</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24788"">K24788</a>]
 (NEDVIBA) HK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3098"">3098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00844"">K00844</a>]
 (NEDBA) MAPK8IP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23162"">23162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04436"">K04436</a>]
 (NECFM) NACC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112939"">112939</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10486"">K10486</a>]
 (NEDMHM) ARHGEF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9181"">9181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12791"">K12791</a>]
 (NEDBASS) PTPN23 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25930"">25930</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18040"">K18040</a>]
 (NEDABA) ODC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4953"">4953</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01581"">K01581</a>]
 (NEDESBA) TRAPPC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51399"">51399</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20303"">K20303</a>]
 (NEDASB) NOVA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4858"">4858</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14944"">K14944</a>]
 (NEDCAM) GEMIN5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25929"">25929</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13133"">K13133</a>]
 (NEDSCAC) MED27 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9442"">9442</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15170"">K15170</a>]
 (NEDCASB) SHMT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6472"">6472</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00600"">K00600</a>]
 (NEDHSB) SPATA5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:166378"">166378</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14575"">K14575</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/618354"">618354</a> <a href=""https://www.omim.org/entry/617807"">617807</a> <a href=""https://www.omim.org/entry/618731"">618731</a> <a href=""https://www.omim.org/entry/618572"">618572</a> <a href=""https://www.omim.org/entry/618056"">618056</a> <a href=""https://www.omim.org/entry/618090"">618090</a> <a href=""https://www.omim.org/entry/618709"">618709</a> <a href=""https://www.omim.org/entry/617977"">617977</a> <a href=""https://www.omim.org/entry/619026"">619026</a> <a href=""https://www.omim.org/entry/618577"">618577</a> <a href=""https://www.omim.org/entry/618547"">618547</a> <a href=""https://www.omim.org/entry/618443"">618443</a> <a href=""https://www.omim.org/entry/617393"">617393</a> <a href=""https://www.omim.org/entry/617523"">617523</a> <a href=""https://www.omim.org/entry/618890"">618890</a> <a href=""https://www.omim.org/entry/619075"">619075</a> <a href=""https://www.omim.org/entry/618741"">618741</a> <a href=""https://www.omim.org/entry/618859"">618859</a> <a href=""https://www.omim.org/entry/619333"">619333</a> <a href=""https://www.omim.org/entry/619286"">619286</a> <a href=""https://www.omim.org/entry/619121"">619121</a> <a href=""https://www.omim.org/entry/616577"">616577</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30595372"">30595372</a> (NEDLBA)
 著者        Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM
 タイトル      De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental  Disorders.
 雑誌        Am J Hum Genet 104:139-156 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.002"">10.1016/j.ajhg.2018.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29106825"">29106825</a> (NDAGSCW)
 著者        Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R
 タイトル      Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
 雑誌        Am J Hum Genet 101:824-832 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.015"">10.1016/j.ajhg.2017.09.015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31256877"">31256877</a> (NEDBAVC)
 著者        Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR
 タイトル      Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
 雑誌        Am J Hum Genet 105:302-316 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.001"">10.1016/j.ajhg.2019.06.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28542170"">28542170</a> (NEDCHS)
 著者        Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS
 タイトル      Human mutations in integrator complex subunits link transcriptome integrity to brain development.
 雑誌        PLoS Genet 13:e1006809 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006809"">10.1371/journal.pgen.1006809</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27282546"">27282546</a> (NEDCAS)
 著者        Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S
 タイトル      BRAT1 mutations present with a spectrum of clinical severity.
 雑誌        Am J Med Genet A 170:2265-73 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37783"">10.1002/ajmg.a.37783</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31353024"">31353024</a> (NEDBAS)
 著者        Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N
 タイトル      Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
 雑誌        Am J Hum Genet 105:631-639 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.07.002"">10.1016/j.ajhg.2019.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30778173"">30778173</a> (NEDVIBA)
 著者        Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK
 タイトル      De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
 雑誌        Eur J Hum Genet 27:1081-1089 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0366-9"">10.1038/s41431-019-0366-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30612693"">30612693</a> (NEDBA)
 著者        Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R
 タイトル      De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
 雑誌        Am J Hum Genet 104:203-212 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.12.008"">10.1016/j.ajhg.2018.12.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28132692"">28132692</a> (NECFM)
 著者        Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V
 タイトル      A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
 雑誌        Am J Hum Genet 100:343-351 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.12.013"">10.1016/j.ajhg.2016.12.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28453519"">28453519</a> (NEDMHM)
 著者        Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hubner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hubner C, Kaindl AM
 タイトル      Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
 雑誌        PLoS Genet 13:e1006746 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1006746"">10.1371/journal.pgen.1006746</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29899372"">29899372</a> (NEDBASS)
 著者        Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R
 タイトル      Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
 雑誌        Eur J Hum Genet 26:1502-1511 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0179-2"">10.1038/s41431-018-0179-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31794024"">31794024</a> (NEDESBA)
 著者        Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J
 タイトル      Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
 雑誌        Brain 143:112-130 (2020)
 DOI:<a href=""https://doi.org/10.1093/brain/awz374"">10.1093/brain/awz374</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32197073"">32197073</a> (NEDASB)
 著者        Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A
 タイトル      De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
 雑誌        Am J Hum Genet 106:438-452 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.02.013"">10.1016/j.ajhg.2020.02.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33443317"">33443317</a> (NEDSCAC)
 著者        Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzalez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y
 タイトル      MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
 雑誌        Ann Neurol 89:828-833 (2021)
 DOI:<a href=""https://doi.org/10.1002/ana.26019"">10.1002/ana.26019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33015733"">33015733</a> (NEDCASB)
 著者        Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A
 タイトル      Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
 雑誌        Acta Neuropathol 140:971-975 (2020)
 DOI:<a href=""https://doi.org/10.1007/s00401-020-02223-w"">10.1007/s00401-020-02223-w</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26299366"">26299366</a> (NEDHSB)
 著者        Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK
 タイトル      Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
 雑誌        Am J Hum Genet 97:457-64 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.07.014"">10.1016/j.ajhg.2015.07.014</a>"
H02471,"尿路異常を伴う脳奇形
 下位グループ    1p32-p31 欠失症候群",,,Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors.,先天奇形,,NFIA [HSA:4774] [KO:K09168],,,,,,"ICD-11: LD44.11
 ICD-10: Q93.5
 MeSH: C535594
 OMIM: 613735","PMID:17530927
 著者        Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL
 タイトル      NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
 雑誌        PLoS Genet 3:e80 (2007)
 DOI:10.1371/journal.pgen.0030080
 PMID:24657733
 著者        Ji J, Salamon N, Quintero-Rivera F
 タイトル      Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
 雑誌        Eur J Med Genet 57:267-8 (2014)
 DOI:10.1016/j.ejmg.2014.03.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02471"">H02471</a>","尿路異常を伴う脳奇形
 下位グループ    1p32-p31 欠失症候群",Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors.,,"NFIA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4774"">4774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09168"">K09168</a>]",,,,,,"ICD-11: LD44.11
 ICD-10: Q93.5
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535594"">C535594</a>
 OMIM: <a href=""https://www.omim.org/entry/613735"">613735</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17530927"">17530927</a>
 著者        Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL
 タイトル      NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
 雑誌        PLoS Genet 3:e80 (2007)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.0030080"">10.1371/journal.pgen.0030080</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24657733"">24657733</a>
 著者        Ji J, Salamon N, Quintero-Rivera F
 タイトル      Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
 雑誌        Eur J Med Genet 57:267-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2014.03.004"">10.1016/j.ejmg.2014.03.004</a>"
H02472,"早期発症進行性脳症
 下位グループ    脳萎縮と拘縮を伴う早期発症進行性脳症 (PEBAS)
 突発性横紋筋融解症を伴う早期発症進行性脳症 (PEERB)",,,"Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were reported in fibroblasts of patients.Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane trafficking.",神経系疾患,,"(PEBAS) TRAPPC12 [HSA:51112] [KO:K20309]
 (PEERB) TRAPPC2L [HSA:51693] [KO:K20301]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 OMIM: 617669 618331","PMID:28777934
 著者        Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S
 タイトル      Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
 雑誌        Am J Hum Genet 101:291-299 (2017)
 DOI:10.1016/j.ajhg.2017.07.006
 PMID:30120216
 著者        Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM
 タイトル      Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
 雑誌        J Med Genet 55:753-764 (2018)
 DOI:10.1136/jmedgenet-2018-105441","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02472"">H02472</a>","早期発症進行性脳症
 下位グループ    脳萎縮と拘縮を伴う早期発症進行性脳症 (PEBAS)
 突発性横紋筋融解症を伴う早期発症進行性脳症 (PEERB)","Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were reported in fibroblasts of patients.Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane trafficking.",,"(PEBAS) TRAPPC12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51112"">51112</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20309"">K20309</a>]
 (PEERB) TRAPPC2L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51693"">51693</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20301"">K20301</a>]",,,,,,"ICD-11: 8A62.Y
 ICD-10: G40.4
 OMIM: <a href=""https://www.omim.org/entry/617669"">617669</a> <a href=""https://www.omim.org/entry/618331"">618331</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28777934"">28777934</a>
 著者        Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S
 タイトル      Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
 雑誌        Am J Hum Genet 101:291-299 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.006"">10.1016/j.ajhg.2017.07.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30120216"">30120216</a>
 著者        Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM
 タイトル      Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
 雑誌        J Med Genet 55:753-764 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105441"">10.1136/jmedgenet-2018-105441</a>"
H02473,"白質脳症、脳石灰化および嚢腫;
 Labrune 症候群",,,"Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.",神経系疾患,,SNORD118 [HSA:727676],,,,,,"ICD-11: 8E4Y
 MeSH: C000598644
 OMIM: 614561","PMID:27571260
 著者        Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Baranano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Ounap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ
 タイトル      Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
 雑誌        Nat Genet 48:1185-92 (2016)
 DOI:10.1038/ng.3661
 PMID:16418383
 著者        Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U
 タイトル      Leukoencephalopathy, cerebral calcifications, and cysts.
 雑誌        AJNR Am J Neuroradiol 27:200-3 (2006)
 PMID:28723803
 著者        Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S
 タイトル      Leukoencephalopathy with calcifications and cysts: A case report.
 雑誌        Medicine (Baltimore) 96:e7597 (2017)
 DOI:10.1097/MD.0000000000007597","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02473"">H02473</a>","白質脳症、脳石灰化および嚢腫;
 Labrune 症候群","Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.",,"SNORD118 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:727676"">727676</a>]",,,,,,"ICD-11: 8E4Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C000598644"">C000598644</a>
 OMIM: <a href=""https://www.omim.org/entry/614561"">614561</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27571260"">27571260</a>
 著者        Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Baranano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Ounap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ
 タイトル      Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
 雑誌        Nat Genet 48:1185-92 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3661"">10.1038/ng.3661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16418383"">16418383</a>
 著者        Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U
 タイトル      Leukoencephalopathy, cerebral calcifications, and cysts.
 雑誌        AJNR Am J Neuroradiol 27:200-3 (2006)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28723803"">28723803</a>
 著者        Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S
 タイトル      Leukoencephalopathy with calcifications and cysts: A case report.
 雑誌        Medicine (Baltimore) 96:e7597 (2017)
 DOI:<a href=""https://doi.org/10.1097/MD.0000000000007597"">10.1097/MD.0000000000007597</a>"
H02474,Blepharocheilodontic 症候群,,,"Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by mutations in CDH1 and CTNND1. They are members of the cadherin-catenin complex.",先天奇形,,"(BCDS1) CDH1 [HSA:999] [KO:K05689]
 (BCDS2) CTNND1 [HSA:1500] [KO:K05690]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: C536188
 OMIM: 119580 617681","PMID:28301459
 著者        Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S
 タイトル      Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
 雑誌        Genet Med 19:1013-1021 (2017)
 DOI:10.1038/gim.2017.11
 PMID:29348693
 著者        Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G
 タイトル      Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
 雑誌        Eur J Hum Genet 26:210-219 (2018)
 DOI:10.1038/s41431-017-0010-5","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02474"">H02474</a>",Blepharocheilodontic 症候群,"Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by mutations in CDH1 and CTNND1. They are members of the cadherin-catenin complex.",,"(BCDS1) CDH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:999"">999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05689"">K05689</a>]
 (BCDS2) CTNND1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1500"">1500</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05690"">K05690</a>]",,,,,,"ICD-11: LD27.0Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536188"">C536188</a>
 OMIM: <a href=""https://www.omim.org/entry/119580"">119580</a> <a href=""https://www.omim.org/entry/617681"">617681</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28301459"">28301459</a>
 著者        Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S
 タイトル      Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
 雑誌        Genet Med 19:1013-1021 (2017)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.11"">10.1038/gim.2017.11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29348693"">29348693</a>
 著者        Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G
 タイトル      Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
 雑誌        Eur J Hum Genet 26:210-219 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-017-0010-5"">10.1038/s41431-017-0010-5</a>"
H02475,"網膜分離症
 下位グループ    X-連鎖性若年性網膜分離症 (XLRS)",,,"Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning.",先天奇形,,RS1 [HSA:6247] [KO:K25729],,,,,,"ICD-11: LA13.3
 ICD-10: Q14.1
 MeSH: D041441
 OMIM: 312700","PMID:15531314
 著者        Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K
 タイトル      Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
 雑誌        Am J Ophthalmol 138:788-98 (2004)
 DOI:10.1016/j.ajo.2004.06.031
 PMID:19093009
 著者        Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A
 タイトル      Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
 雑誌        Mol Vis 14:2321-32 (2008)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02475"">H02475</a>","網膜分離症
 下位グループ    X-連鎖性若年性網膜分離症 (XLRS)","Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning.",,"RS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6247"">6247</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25729"">K25729</a>]",,,,,,"ICD-11: LA13.3
 ICD-10: Q14.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D041441"">D041441</a>
 OMIM: <a href=""https://www.omim.org/entry/312700"">312700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15531314"">15531314</a>
 著者        Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K
 タイトル      Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
 雑誌        Am J Ophthalmol 138:788-98 (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ajo.2004.06.031"">10.1016/j.ajo.2004.06.031</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19093009"">19093009</a>
 著者        Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A
 タイトル      Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
 雑誌        Mol Vis 14:2321-32 (2008)"
H02476,脳萎縮を伴う小児発症神経変性疾患,,,Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations in UBTF cause this disease. UBTF is a Pol I transcription factor and is instrumental in the generation of rRNA transcripts.,神経系疾患,,UBTF [HSA:7343] [KO:K09273],,,,,,"ICD-11: 8E4Y
 OMIM: 617672","PMID:28777933
 著者        Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O
 タイトル      Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
 雑誌        Am J Hum Genet 101:267-273 (2017)
 DOI:10.1016/j.ajhg.2017.07.002
 PMID:29300972
 著者        Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS
 タイトル      A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
 雑誌        Hum Mol Genet 27:691-705 (2018)
 DOI:10.1093/hmg/ddx435","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02476"">H02476</a>",脳萎縮を伴う小児発症神経変性疾患,Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations in UBTF cause this disease. UBTF is a Pol I transcription factor and is instrumental in the generation of rRNA transcripts.,,"UBTF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7343"">7343</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09273"">K09273</a>]",,,,,,"ICD-11: 8E4Y
 OMIM: <a href=""https://www.omim.org/entry/617672"">617672</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28777933"">28777933</a>
 著者        Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O
 タイトル      Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
 雑誌        Am J Hum Genet 101:267-273 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.002"">10.1016/j.ajhg.2017.07.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29300972"">29300972</a>
 著者        Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS
 タイトル      A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
 雑誌        Hum Mol Genet 27:691-705 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddx435"">10.1093/hmg/ddx435</a>"
H02477,Cohen-Gibson 症候群,,,"Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing.",先天奇形,,EED [HSA:8726] [KO:K11462],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 617561","PMID:27193220
 著者        Cohen AS, Gibson WT
 タイトル      EED-associated overgrowth in a second male patient.
 雑誌        J Hum Genet 61:831-4 (2016)
 DOI:10.1038/jhg.2016.51
 PMID:25787343
 著者        Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT
 タイトル      A novel mutation in EED associated with overgrowth.
 雑誌        J Hum Genet 60:339-42 (2015)
 DOI:10.1038/jhg.2015.26","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02477"">H02477</a>",Cohen-Gibson 症候群,"Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing.",,"EED [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8726"">8726</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11462"">K11462</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/617561"">617561</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27193220"">27193220</a>
 著者        Cohen AS, Gibson WT
 タイトル      EED-associated overgrowth in a second male patient.
 雑誌        J Hum Genet 61:831-4 (2016)
 DOI:<a href=""https://doi.org/10.1038/jhg.2016.51"">10.1038/jhg.2016.51</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25787343"">25787343</a>
 著者        Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT
 タイトル      A novel mutation in EED associated with overgrowth.
 雑誌        J Hum Genet 60:339-42 (2015)
 DOI:<a href=""https://doi.org/10.1038/jhg.2015.26"">10.1038/jhg.2015.26</a>"
H02478,CATIFA 症候群,,,"CATIFA syndrome is a novel autosomal recessive syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations in RIC1 cause CATIFA syndrome. RIC1 is an essential component of the procollagen secretory pathway.",先天奇形,,RIC1 [HSA:57589] [KO:K20476],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 618761","PMID:27878435
 著者        Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
 タイトル      Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
 雑誌        Hum Genet 136:205-225 (2017)
 DOI:10.1007/s00439-016-1747-6
 PMID:31932796
 著者        Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
 タイトル      Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
 雑誌        Nat Med 26:98-109 (2020)
 DOI:10.1038/s41591-019-0705-y","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02478"">H02478</a>",CATIFA 症候群,"CATIFA syndrome is a novel autosomal recessive syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations in RIC1 cause CATIFA syndrome. RIC1 is an essential component of the procollagen secretory pathway.",,"RIC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57589"">57589</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20476"">K20476</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618761"">618761</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27878435"">27878435</a>
 著者        Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
 タイトル      Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
 雑誌        Hum Genet 136:205-225 (2017)
 DOI:<a href=""https://doi.org/10.1007/s00439-016-1747-6"">10.1007/s00439-016-1747-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31932796"">31932796</a>
 著者        Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
 タイトル      Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
 雑誌        Nat Med 26:98-109 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41591-019-0705-y"">10.1038/s41591-019-0705-y</a>"
H02479,Nivelon-Nivelon-Mabille 症候群,,,"Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.",先天奇形,,HHAT [HSA:55733] [KO:K24678],,,,,,"ICD-11: LD2F.1Y
 MeSH: C536123
 OMIM: 600092","PMID:30912300
 著者        Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS
 タイトル      Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
 雑誌        Am J Med Genet A 179:1053-1057 (2019)
 DOI:10.1002/ajmg.a.61133
 PMID:24784881
 著者        Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stevant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jegou B, Trainor PA, Resh MD, Antonarakis SE, Nef S
 タイトル      Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
 雑誌        PLoS Genet 10:e1004340 (2014)
 DOI:10.1371/journal.pgen.1004340","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02479"">H02479</a>",Nivelon-Nivelon-Mabille 症候群,"Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.",,"HHAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55733"">55733</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24678"">K24678</a>]",,,,,,"ICD-11: LD2F.1Y
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536123"">C536123</a>
 OMIM: <a href=""https://www.omim.org/entry/600092"">600092</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30912300"">30912300</a>
 著者        Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS
 タイトル      Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
 雑誌        Am J Med Genet A 179:1053-1057 (2019)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.61133"">10.1002/ajmg.a.61133</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24784881"">24784881</a>
 著者        Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stevant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jegou B, Trainor PA, Resh MD, Antonarakis SE, Nef S
 タイトル      Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
 雑誌        PLoS Genet 10:e1004340 (2014)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1004340"">10.1371/journal.pgen.1004340</a>"
H02480,"Fontaine 早老症候群
 下位グループ    Gorlin-Chaudhry-Moss 症候群
 Fontaine-Farriaux 症候群",,,"Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.",先天奇形,,SLC25A24 [HSA:29957] [KO:K14684],,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 OMIM: 612289","PMID:29100093
 著者        Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmuller J, Netzer C, Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U
 タイトル      De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
 雑誌        Am J Hum Genet 101:833-843 (2017)
 DOI:10.1016/j.ajhg.2017.09.016
 PMID:29100094
 著者        Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radovic S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC
 タイトル      De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
 雑誌        Am J Hum Genet 101:844-855 (2017)
 DOI:10.1016/j.ajhg.2017.09.017
 PMID:31775791
 著者        Ryu J, Ko JM, Shin CH
 タイトル      A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
 雑誌        BMC Med Genet 20:188 (2019)
 DOI:10.1186/s12881-019-0921-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02480"">H02480</a>","Fontaine 早老症候群
 下位グループ    Gorlin-Chaudhry-Moss 症候群
 Fontaine-Farriaux 症候群","Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.",,"SLC25A24 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29957"">29957</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14684"">K14684</a>]",,,,,,"ICD-11: LD2B
 ICD-10: E34.8
 OMIM: <a href=""https://www.omim.org/entry/612289"">612289</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100093"">29100093</a>
 著者        Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmuller J, Netzer C, Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U
 タイトル      De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
 雑誌        Am J Hum Genet 101:833-843 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.016"">10.1016/j.ajhg.2017.09.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29100094"">29100094</a>
 著者        Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radovic S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC
 タイトル      De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
 雑誌        Am J Hum Genet 101:844-855 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.09.017"">10.1016/j.ajhg.2017.09.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31775791"">31775791</a>
 著者        Ryu J, Ko JM, Shin CH
 タイトル      A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
 雑誌        BMC Med Genet 20:188 (2019)
 DOI:<a href=""https://doi.org/10.1186/s12881-019-0921-9"">10.1186/s12881-019-0921-9</a>"
H02481,"低身長を伴う症候群
 下位グループ    小頭症と特異的顔貌を伴う低身長 (SSMDF)
 低身長、耳道閉鎖症、下顎低形成、骨格異常 (SAMS)
 低身長、短指症、知的発達障害および痙攣発作 (SBIDDS)
 低身長、知的発達障害、小頭症、筋緊張低下および眼球異常 (SIMHA)
 低身長、小頭症および性器形態異常 (SSMGA)
 低身長、爪甲形成不全、顔異形症および貧毛症 (SOFT)
 低身長、部分性無歯症、顔異形および運動発達遅滞 (SOFM)
 低身長、視神経萎縮およびペルゲル・フエット核異常 (SOPH)
 小頭症、小顎症および成長遅滞を伴う近位肢節短縮型低身長 (SRMMD)
 低身長、遺伝性エナメル質形成不全および脊柱側弯症を伴う骨格形成異常 (SSASKS)
 低身長、顔異形症および心奇形を伴う骨格形成異常 (SSFSC)",,,"Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown pathologies. Several underlying genetic causes of these disorders have been identified.",先天奇形,,"(SSMDF) CRIPT [HSA:9419] [KO:K24826]
 (SAMS) GSC [HSA:145258] [KO:K09324]
 (SBIDDS) PRMT7 [HSA:54496] [KO:K11438]
 (SIMHA) ZNF407 [HSA:55628]
 (SSMGA) CENPT [HSA:80152] [KO:K11512]
 (SOFT) POC1A [HSA:25886] [KO:K16482]
 (SOFM) POLR3GL [HSA:84265] [KO:K03024]
 (SOPH) NBAS [HSA:51594] [KO:K20473]
 (SRMMD) ARCN1 [HSA:372] [KO:K20471]
 (SSASKS) SLC10A7 [HSA:84068] [KO:K14347]
 (SSFSC1) BMP2 [HSA:650] [KO:K21283]
 (SSFSC2) SCUBE3 [HSA:222663] [KO:K24468]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: 615789 602471 617157 619557 616541 618702 614813 619234 614800 617164 618363 617877 619184","PMID:24637303
 著者        Siklar Z, Berberoglu M
 タイトル      Syndromic disorders with short stature.
 雑誌        J Clin Res Pediatr Endocrinol 6:1-8 (2014)
 DOI:10.4274/Jcrpe.1149
 PMID:27250922 (SSMDF)
 著者        Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR
 タイトル      CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
 雑誌        Am J Med Genet A 170:2206-11 (2016)
 DOI:10.1002/ajmg.a.37780
 PMID:24290375 (SAMS)
 著者        Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA
 タイトル      SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
 雑誌        Am J Hum Genet 93:1135-42 (2013)
 DOI:10.1016/j.ajhg.2013.10.027
 PMID:27718516 (SBIDDS)
 著者        Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S, Boycott KM, Chitayat D
 タイトル      Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
 雑誌        Clin Genet 91:708-716 (2017)
 DOI:10.1111/cge.12884
 PMID:24907849 (SIMHA)
 著者        Kambouris M, Maroun RC, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R, Boulos H, Curmi PA, El-Shanti H
 タイトル      Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
 雑誌        Orphanet J Rare Dis 9:80 (2014)
 DOI:10.1186/1750-1172-9-80
 PMID:29228025 (SSMGA)
 著者        Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA
 タイトル      A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
 雑誌        PLoS One 12:e0189324 (2017)
 DOI:10.1371/journal.pone.0189324
 PMID:22840364 (SOFT)
 著者        Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS
 タイトル      POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
 雑誌        Am J Hum Genet 91:330-6 (2012)
 DOI:10.1016/j.ajhg.2012.05.025
 PMID:31089205 (SOFM)
 著者        Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Creton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI
 タイトル      Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
 雑誌        Eur J Hum Genet 28:31-39 (2020)
 DOI:10.1038/s41431-019-0427-0
 PMID:20577004 (SOPH)
 著者        Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O
 タイトル      Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.
 雑誌        J Med Genet 47:538-48 (2010)
 DOI:10.1136/jmg.2009.074815
 PMID:27476655 (SRMMD)
 著者        Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K
 タイトル      ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
 雑誌        Am J Hum Genet 99:451-9 (2016)
 DOI:10.1016/j.ajhg.2016.06.011
 PMID:29878199 (SSASKS)
 著者        Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN
 タイトル      Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
 雑誌        Hum Mol Genet 27:3029-3045 (2018)
 DOI:10.1093/hmg/ddy213
 PMID:29198724 (SSFSC1)
 著者        Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG
 タイトル      Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
 雑誌        Am J Hum Genet 101:985-994 (2017)
 DOI:10.1016/j.ajhg.2017.10.006
 PMID:33308444 (SSFSC2)
 著者        Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Gruning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Isik E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M
 タイトル      SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
 雑誌        Am J Hum Genet 108:115-133 (2021)
 DOI:10.1016/j.ajhg.2020.11.015","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02481"">H02481</a>","低身長を伴う症候群
 下位グループ    小頭症と特異的顔貌を伴う低身長 (SSMDF)
 低身長、耳道閉鎖症、下顎低形成、骨格異常 (SAMS)
 低身長、短指症、知的発達障害および痙攣発作 (SBIDDS)
 低身長、知的発達障害、小頭症、筋緊張低下および眼球異常 (SIMHA)
 低身長、小頭症および性器形態異常 (SSMGA)
 低身長、爪甲形成不全、顔異形症および貧毛症 (SOFT)
 低身長、部分性無歯症、顔異形および運動発達遅滞 (SOFM)
 低身長、視神経萎縮およびペルゲル・フエット核異常 (SOPH)
 小頭症、小顎症および成長遅滞を伴う近位肢節短縮型低身長 (SRMMD)
 低身長、遺伝性エナメル質形成不全および脊柱側弯症を伴う骨格形成異常 (SSASKS)
 低身長、顔異形症および心奇形を伴う骨格形成異常 (SSFSC)","Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown pathologies. Several underlying genetic causes of these disorders have been identified.",,"(SSMDF) CRIPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9419"">9419</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24826"">K24826</a>]
 (SAMS) GSC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:145258"">145258</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09324"">K09324</a>]
 (SBIDDS) PRMT7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54496"">54496</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11438"">K11438</a>]
 (SIMHA) ZNF407 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55628"">55628</a>]
 (SSMGA) CENPT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80152"">80152</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11512"">K11512</a>]
 (SOFT) POC1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:25886"">25886</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16482"">K16482</a>]
 (SOFM) POLR3GL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84265"">84265</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03024"">K03024</a>]
 (SOPH) NBAS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51594"">51594</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20473"">K20473</a>]
 (SRMMD) ARCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:372"">372</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20471"">K20471</a>]
 (SSASKS) SLC10A7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84068"">84068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14347"">K14347</a>]
 (SSFSC1) BMP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:650"">650</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K21283"">K21283</a>]
 (SSFSC2) SCUBE3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:222663"">222663</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24468"">K24468</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/615789"">615789</a> <a href=""https://www.omim.org/entry/602471"">602471</a> <a href=""https://www.omim.org/entry/617157"">617157</a> <a href=""https://www.omim.org/entry/619557"">619557</a> <a href=""https://www.omim.org/entry/616541"">616541</a> <a href=""https://www.omim.org/entry/618702"">618702</a> <a href=""https://www.omim.org/entry/614813"">614813</a> <a href=""https://www.omim.org/entry/619234"">619234</a> <a href=""https://www.omim.org/entry/614800"">614800</a> <a href=""https://www.omim.org/entry/617164"">617164</a> <a href=""https://www.omim.org/entry/618363"">618363</a> <a href=""https://www.omim.org/entry/617877"">617877</a> <a href=""https://www.omim.org/entry/619184"">619184</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24637303"">24637303</a>
 著者        Siklar Z, Berberoglu M
 タイトル      Syndromic disorders with short stature.
 雑誌        J Clin Res Pediatr Endocrinol 6:1-8 (2014)
 DOI:<a href=""https://doi.org/10.4274/Jcrpe.1149"">10.4274/Jcrpe.1149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27250922"">27250922</a> (SSMDF)
 著者        Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR
 タイトル      CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
 雑誌        Am J Med Genet A 170:2206-11 (2016)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.37780"">10.1002/ajmg.a.37780</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24290375"">24290375</a> (SAMS)
 著者        Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA
 タイトル      SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
 雑誌        Am J Hum Genet 93:1135-42 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.10.027"">10.1016/j.ajhg.2013.10.027</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27718516"">27718516</a> (SBIDDS)
 著者        Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S, Boycott KM, Chitayat D
 タイトル      Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
 雑誌        Clin Genet 91:708-716 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12884"">10.1111/cge.12884</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24907849"">24907849</a> (SIMHA)
 著者        Kambouris M, Maroun RC, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R, Boulos H, Curmi PA, El-Shanti H
 タイトル      Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
 雑誌        Orphanet J Rare Dis 9:80 (2014)
 DOI:<a href=""https://doi.org/10.1186/1750-1172-9-80"">10.1186/1750-1172-9-80</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29228025"">29228025</a> (SSMGA)
 著者        Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA
 タイトル      A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
 雑誌        PLoS One 12:e0189324 (2017)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0189324"">10.1371/journal.pone.0189324</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22840364"">22840364</a> (SOFT)
 著者        Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS
 タイトル      POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
 雑誌        Am J Hum Genet 91:330-6 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.05.025"">10.1016/j.ajhg.2012.05.025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31089205"">31089205</a> (SOFM)
 著者        Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Creton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI
 タイトル      Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
 雑誌        Eur J Hum Genet 28:31-39 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0427-0"">10.1038/s41431-019-0427-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20577004"">20577004</a> (SOPH)
 著者        Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O
 タイトル      Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.
 雑誌        J Med Genet 47:538-48 (2010)
 DOI:<a href=""https://doi.org/10.1136/jmg.2009.074815"">10.1136/jmg.2009.074815</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27476655"">27476655</a> (SRMMD)
 著者        Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K
 タイトル      ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
 雑誌        Am J Hum Genet 99:451-9 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.06.011"">10.1016/j.ajhg.2016.06.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29878199"">29878199</a> (SSASKS)
 著者        Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN
 タイトル      Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
 雑誌        Hum Mol Genet 27:3029-3045 (2018)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddy213"">10.1093/hmg/ddy213</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29198724"">29198724</a> (SSFSC1)
 著者        Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG
 タイトル      Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
 雑誌        Am J Hum Genet 101:985-994 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.10.006"">10.1016/j.ajhg.2017.10.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33308444"">33308444</a> (SSFSC2)
 著者        Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Gruning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Isik E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M
 タイトル      SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
 雑誌        Am J Hum Genet 108:115-133 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.11.015"">10.1016/j.ajhg.2020.11.015</a>"
H02482,ROSAH 症候群,,,"ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ALPK1 cause ROSAH syndrome.",先天奇形,,ALPK1 [HSA:80216] [KO:K08868],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 614979","PMID:22307799
 著者        Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM
 タイトル      An inherited disorder with splenomegaly, cytopenias, and vision loss.
 雑誌        Am J Med Genet A 158A:475-81 (2012)
 DOI:10.1002/ajmg.a.34437
 PMID:30967659
 著者        Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM
 タイトル      ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
 雑誌        Genet Med 21:2103-2115 (2019)
 DOI:10.1038/s41436-019-0476-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02482"">H02482</a>",ROSAH 症候群,"ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ALPK1 cause ROSAH syndrome.",,"ALPK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80216"">80216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08868"">K08868</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/614979"">614979</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22307799"">22307799</a>
 著者        Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM
 タイトル      An inherited disorder with splenomegaly, cytopenias, and vision loss.
 雑誌        Am J Med Genet A 158A:475-81 (2012)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.34437"">10.1002/ajmg.a.34437</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30967659"">30967659</a>
 著者        Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM
 タイトル      ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
 雑誌        Genet Med 21:2103-2115 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0476-3"">10.1038/s41436-019-0476-3</a>"
H02483,Basel-Vanagaite-Smirin-Yosef 症候群,,,"Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. It has been reported that mutations in MED25 cause this syndrome.",先天奇形,,MED25 [HSA:81857] [KO:K15168],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 616449","PMID:25792360
 著者        Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monte D, Salmon-Divon M, Behar DM
 タイトル      Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
 雑誌        Hum Genet 134:577-87 (2015)
 DOI:10.1007/s00439-015-1541-x","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02483"">H02483</a>",Basel-Vanagaite-Smirin-Yosef 症候群,"Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. It has been reported that mutations in MED25 cause this syndrome.",,"MED25 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81857"">81857</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15168"">K15168</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/616449"">616449</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25792360"">25792360</a>
 著者        Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monte D, Salmon-Divon M, Behar DM
 タイトル      Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
 雑誌        Hum Genet 134:577-87 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00439-015-1541-x"">10.1007/s00439-015-1541-x</a>"
H02484,全身症状を伴うX連鎖色素性網状疾患,,,"X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase alpha.",免疫系疾患,,POLA1 [HSA:5422] [KO:K02320],,,,,,"ICD-11: 5D00.2
 ICD-10: E85.0
 MeSH: C564461
 OMIM: 301220","PMID:7977467
 著者        Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW
 タイトル      Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.
 雑誌        Am J Med Genet 52:75-8 (1994)
 DOI:10.1002/ajmg.1320520115
 PMID:27019227
 著者        Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E
 タイトル      DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
 雑誌        Nat Immunol 17:495-504 (2016)
 DOI:10.1038/ni.3409
 PMID:31672938
 著者        Starokadomskyy P, Wilton KM, Krzewski K, Lopez A, Sifuentes-Dominguez L, Overlee B, Chen Q, Ray A, Gil-Krzewska A, Peterson M, Kinch LN, Rohena L, Grunebaum E, Zinn AR, Grishin NV, Billadeau DD, Burstein E
 タイトル      NK cell defects in X-linked pigmentary reticulate disorder.
 雑誌        JCI Insight 4:125688 (2019)
 DOI:10.1172/jci.insight.125688","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02484"">H02484</a>",全身症状を伴うX連鎖色素性網状疾患,"X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase alpha.",,"POLA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5422"">5422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02320"">K02320</a>]",,,,,,"ICD-11: 5D00.2
 ICD-10: E85.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564461"">C564461</a>
 OMIM: <a href=""https://www.omim.org/entry/301220"">301220</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7977467"">7977467</a>
 著者        Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW
 タイトル      Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.
 雑誌        Am J Med Genet 52:75-8 (1994)
 DOI:<a href=""https://doi.org/10.1002/ajmg.1320520115"">10.1002/ajmg.1320520115</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27019227"">27019227</a>
 著者        Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E
 タイトル      DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
 雑誌        Nat Immunol 17:495-504 (2016)
 DOI:<a href=""https://doi.org/10.1038/ni.3409"">10.1038/ni.3409</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31672938"">31672938</a>
 著者        Starokadomskyy P, Wilton KM, Krzewski K, Lopez A, Sifuentes-Dominguez L, Overlee B, Chen Q, Ray A, Gil-Krzewska A, Peterson M, Kinch LN, Rohena L, Grunebaum E, Zinn AR, Grishin NV, Billadeau DD, Burstein E
 タイトル      NK cell defects in X-linked pigmentary reticulate disorder.
 雑誌        JCI Insight 4:125688 (2019)
 DOI:<a href=""https://doi.org/10.1172/jci.insight.125688"">10.1172/jci.insight.125688</a>"
H02485,MTO 欠損による口腔外由来口臭,,,"Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human methanethiol oxidase (MTO) catalyzing the conversion of methanethiol into formaldehyde, H2S, and hydrogen peroxide.",先天性代謝疾患,,SELENBP1 [HSA:8991] [KO:K17285],,,,,,"ICD-11: 5C50.B
 ICD-10: E88.8
 OMIM: 618148","PMID:29255262
 著者        Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schafer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA
 タイトル      Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
 雑誌        Nat Genet 50:120-129 (2018)
 DOI:10.1038/s41588-017-0006-7","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02485"">H02485</a>",MTO 欠損による口腔外由来口臭,"Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human methanethiol oxidase (MTO) catalyzing the conversion of methanethiol into formaldehyde, H2S, and hydrogen peroxide.",,"SELENBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8991"">8991</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17285"">K17285</a>]",,,,,,"ICD-11: 5C50.B
 ICD-10: E88.8
 OMIM: <a href=""https://www.omim.org/entry/618148"">618148</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29255262"">29255262</a>
 著者        Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schafer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA
 タイトル      Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
 雑誌        Nat Genet 50:120-129 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41588-017-0006-7"">10.1038/s41588-017-0006-7</a>"
H02486,HELIX 症候群,,,"HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome.",皮膚疾患,,CLDN10 [HSA:9071] [KO:K06087],,,,,,"ICD-11: LD27.Y
 ICD-10: L98.8
 OMIM: 617671","PMID:28771254
 著者        Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H
 タイトル      Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
 雑誌        Genet Med 20:190-201 (2018)
 DOI:10.1038/gim.2017.71","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02486"">H02486</a>",HELIX 症候群,"HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome.",,"CLDN10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9071"">9071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06087"">K06087</a>]",,,,,,"ICD-11: LD27.Y
 ICD-10: L98.8
 OMIM: <a href=""https://www.omim.org/entry/617671"">617671</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28771254"">28771254</a>
 著者        Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H
 タイトル      Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
 雑誌        Genet Med 20:190-201 (2018)
 DOI:<a href=""https://doi.org/10.1038/gim.2017.71"">10.1038/gim.2017.71</a>"
H02487,間脳・中脳接合部異形成症候群,,,"Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial sections on MRI. Patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. A few genes that cause DMJDS have been identified.",先天奇形,,"(DMJDS1) PCDH12 [HSA:51294] [KO:K16499]
 (DMJDS2) GSX2 [HSA:170825] [KO:K09310]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.7
 OMIM: 251280 618646","PMID:22822038
 著者        Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM
 タイトル      Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
 雑誌        Brain 135:2416-27 (2012)
 DOI:10.1093/brain/aws162
 PMID:31412107
 著者        De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM
 タイトル      Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
 雑誌        Brain 142:2965-2978 (2019)
 DOI:10.1093/brain/awz247","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02487"">H02487</a>",間脳・中脳接合部異形成症候群,"Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial sections on MRI. Patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. A few genes that cause DMJDS have been identified.",,"(DMJDS1) PCDH12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51294"">51294</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16499"">K16499</a>]
 (DMJDS2) GSX2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:170825"">170825</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09310"">K09310</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q04.7
 OMIM: <a href=""https://www.omim.org/entry/251280"">251280</a> <a href=""https://www.omim.org/entry/618646"">618646</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22822038"">22822038</a>
 著者        Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM
 タイトル      Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
 雑誌        Brain 135:2416-27 (2012)
 DOI:<a href=""https://doi.org/10.1093/brain/aws162"">10.1093/brain/aws162</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31412107"">31412107</a>
 著者        De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM
 タイトル      Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
 雑誌        Brain 142:2965-2978 (2019)
 DOI:<a href=""https://doi.org/10.1093/brain/awz247"">10.1093/brain/awz247</a>"
H02488,心臓・泌尿生殖器症候群,,,"Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.",先天奇形,,MYRF [HSA:745] [KO:K24768],,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 OMIM: 618280","PMID:29446546
 著者        Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ
 タイトル      De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
 雑誌        Am J Med Genet A 176:969-972 (2018)
 DOI:10.1002/ajmg.a.38620
 PMID:30532227
 著者        Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y
 タイトル      De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
 雑誌        PLoS Genet 14:e1007822 (2018)
 DOI:10.1371/journal.pgen.1007822","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02488"">H02488</a>",心臓・泌尿生殖器症候群,"Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.",,"MYRF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:745"">745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24768"">K24768</a>]",,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618280"">618280</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29446546"">29446546</a>
 著者        Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ
 タイトル      De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
 雑誌        Am J Med Genet A 176:969-972 (2018)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38620"">10.1002/ajmg.a.38620</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30532227"">30532227</a>
 著者        Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y
 タイトル      De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
 雑誌        PLoS Genet 14:e1007822 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007822"">10.1371/journal.pgen.1007822</a>"
H02489,可逆的ミエリン空胞化を伴う軽症脳症,,,Mild encephalopathy with reversible myelin vacuolization (MMERV) is a familial disorder with clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in MYRF have been identified in patients. MYRF is a critical transcriptional regulator required for CNS myelination.,神経系疾患,,MYRF [HSA:745] [KO:K24768],,,,,,"ICD-11: 8E4Y
 ICD-10: Q04.9
 OMIM: 618113","PMID:22956843
 著者        Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, Emery B
 タイトル      Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.
 雑誌        J Neurosci 32:12528-42 (2012)
 DOI:10.1523/JNEUROSCI.1069-12.2012
 PMID:20042198
 著者        Imamura T, Takanashi J, Yasugi J, Terada H, Nishimura A
 タイトル      Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?
 雑誌        J Neurol Sci 290:153-6 (2010)
 DOI:10.1016/j.jns.2009.12.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02489"">H02489</a>",可逆的ミエリン空胞化を伴う軽症脳症,Mild encephalopathy with reversible myelin vacuolization (MMERV) is a familial disorder with clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in MYRF have been identified in patients. MYRF is a critical transcriptional regulator required for CNS myelination.,,"MYRF [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:745"">745</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24768"">K24768</a>]",,,,,,"ICD-11: 8E4Y
 ICD-10: Q04.9
 OMIM: <a href=""https://www.omim.org/entry/618113"">618113</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22956843"">22956843</a>
 著者        Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, Emery B
 タイトル      Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.
 雑誌        J Neurosci 32:12528-42 (2012)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.1069-12.2012"">10.1523/JNEUROSCI.1069-12.2012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20042198"">20042198</a>
 著者        Imamura T, Takanashi J, Yasugi J, Terada H, Nishimura A
 タイトル      Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?
 雑誌        J Neurol Sci 290:153-6 (2010)
 DOI:<a href=""https://doi.org/10.1016/j.jns.2009.12.004"">10.1016/j.jns.2009.12.004</a>"
H02490,Gabriele-de Vries 症候群,,,Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes.,精神及び行動の障害,,YY1 [HSA:7528] [KO:K09201],,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: 617757","PMID:28575647
 著者        Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA
 タイトル      YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
 雑誌        Am J Hum Genet 100:907-925 (2017)
 DOI:10.1016/j.ajhg.2017.05.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02490"">H02490</a>",Gabriele-de Vries 症候群,Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes.,,"YY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7528"">7528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09201"">K09201</a>]",,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: <a href=""https://www.omim.org/entry/617757"">617757</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28575647"">28575647</a>
 著者        Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA
 タイトル      YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
 雑誌        Am J Hum Genet 100:907-925 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.05.006"">10.1016/j.ajhg.2017.05.006</a>"
H02491,神経発達異常を伴う免疫性骨形成不全,,,"Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. EXTL3 encodes a glycosyltransferase involved in heparan sulfate biosynthesis.",先天奇形,,EXTL3 [HSA:2137] [KO:K02370],,,,,,"ICD-11: 4A01.3
 ICD-10: D82.2
 OMIM: 617425","PMID:28132690
 著者        Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW
 タイトル      Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
 雑誌        Am J Hum Genet 100:281-296 (2017)
 DOI:10.1016/j.ajhg.2017.01.013
 PMID:28148688
 著者        Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zuniga-Pflucker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD
 タイトル      EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
 雑誌        J Exp Med 214:623-637 (2017)
 DOI:10.1084/jem.20161525","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02491"">H02491</a>",神経発達異常を伴う免疫性骨形成不全,"Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. EXTL3 encodes a glycosyltransferase involved in heparan sulfate biosynthesis.",,"EXTL3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2137"">2137</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02370"">K02370</a>]",,,,,,"ICD-11: 4A01.3
 ICD-10: D82.2
 OMIM: <a href=""https://www.omim.org/entry/617425"">617425</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28132690"">28132690</a>
 著者        Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW
 タイトル      Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
 雑誌        Am J Hum Genet 100:281-296 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.01.013"">10.1016/j.ajhg.2017.01.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28148688"">28148688</a>
 著者        Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zuniga-Pflucker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD
 タイトル      EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
 雑誌        J Exp Med 214:623-637 (2017)
 DOI:<a href=""https://doi.org/10.1084/jem.20161525"">10.1084/jem.20161525</a>"
H02492,"小頭症・発育不全および姉妹染色分体交換の増加
 下位グループ    ブルーム症候群 [DS:H01346]",,,"Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges on cytogenetic testing. MGRISCE1, caused by biallelic mutations in BLM, is known as Bloom syndrome [DS:H01346]. Recently, MGRISCE2, caused by mutations in TOP3A, has been reported. TOP3A encodes topoisomerase III alpha, which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination.",先天奇形,,"(MGRISCE1) BLM [HSA:641] [KO:K10901]
 (MGRISCE2) TOP3A [HSA:7156] [KO:K03165]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 OMIM: 210900 618097","PMID:4140506
 著者        Chaganti RS, Schonberg S, German J
 タイトル      A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.
 雑誌        Proc Natl Acad Sci U S A 71:4508-12 (1974)
 DOI:10.1073/pnas.71.11.4508
 PMID:23928670 (MGRISCE1)
 著者        Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
 タイトル      Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
 雑誌        J Clin Endocrinol Metab 98:3932-8 (2013)
 DOI:10.1210/jc.2013-2491
 PMID:30057030 (MGRISCE2)
 著者        Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
 タイトル      Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
 雑誌        Am J Hum Genet 103:221-231 (2018)
 DOI:10.1016/j.ajhg.2018.07.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02492"">H02492</a>","小頭症・発育不全および姉妹染色分体交換の増加
 下位グループ    ブルーム症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01346"">H01346</a>]","Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges on cytogenetic testing. MGRISCE1, caused by biallelic mutations in BLM, is known as Bloom syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01346]."">H01346].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Recently,"">Recently,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:MGRISCE2,"">MGRISCE2,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:caused"">caused</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mutations"">mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:TOP3A,"">TOP3A,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported."">reported.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:TOP3A"">TOP3A</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encodes"">encodes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:topoisomerase"">topoisomerase</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:III"">III</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:alpha,"">alpha,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:which"">which</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:binds"">binds</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:to"">to</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BLM"">BLM</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:as"">as</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:part"">part</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:BTRR"">BTRR</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:complex,"">complex,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:promotes"">promotes</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:dissolution"">dissolution</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:double"">double</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Holliday"">Holliday</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:junctions"">junctions</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:arising"">arising</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:during"">during</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:homologous"">homologous</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:recombination."">recombination.</a>",,"(MGRISCE1) BLM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:641"">641</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10901"">K10901</a>]
 (MGRISCE2) TOP3A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7156"">7156</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03165"">K03165</a>]",,,,,,"ICD-11: LD20.2
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/210900"">210900</a> <a href=""https://www.omim.org/entry/618097"">618097</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/4140506"">4140506</a>
 著者        Chaganti RS, Schonberg S, German J
 タイトル      A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.
 雑誌        Proc Natl Acad Sci U S A 71:4508-12 (1974)
 DOI:<a href=""https://doi.org/10.1073/pnas.71.11.4508"">10.1073/pnas.71.11.4508</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23928670"">23928670</a> (MGRISCE1)
 著者        Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
 タイトル      Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
 雑誌        J Clin Endocrinol Metab 98:3932-8 (2013)
 DOI:<a href=""https://doi.org/10.1210/jc.2013-2491"">10.1210/jc.2013-2491</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30057030"">30057030</a> (MGRISCE2)
 著者        Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
 タイトル      Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
 雑誌        Am J Hum Genet 103:221-231 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.07.001"">10.1016/j.ajhg.2018.07.001</a>"
H02493,Al Kaissi 症候群,,,"Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.",先天奇形,,CDK10 [HSA:8558] [KO:K02449],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 617694","PMID:28886341
 著者        Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmuller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P
 タイトル      CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
 雑誌        Am J Hum Genet 101:391-403 (2017)
 DOI:10.1016/j.ajhg.2017.08.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02493"">H02493</a>",Al Kaissi 症候群,"Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.",,"CDK10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8558"">8558</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02449"">K02449</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/617694"">617694</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28886341"">28886341</a>
 著者        Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmuller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P
 タイトル      CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
 雑誌        Am J Hum Genet 101:391-403 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.08.003"">10.1016/j.ajhg.2017.08.003</a>"
H02494,Alkuraya-Kucinskas 症候群,,,Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome. ALKKUCS is required for synaptic vesicle recycling.,先天奇形,,ALKKUCS [HSA:84162] [KO:K24964],,,,,,"ICD-11: LA0Y
 ICD-10: Q04.8
 OMIM: 617822","PMID:29290337
 著者        Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A
 タイトル      KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
 雑誌        Am J Hum Genet 102:116-132 (2018)
 DOI:10.1016/j.ajhg.2017.12.002
 PMID:19640479
 著者        Verstreken P, Ohyama T, Haueter C, Habets RL, Lin YQ, Swan LE, Ly CV, Venken KJ, De Camilli P, Bellen HJ
 タイトル      Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling.
 雑誌        Neuron 63:203-15 (2009)
 DOI:10.1016/j.neuron.2009.06.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02494"">H02494</a>",Alkuraya-Kucinskas 症候群,Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome. ALKKUCS is required for synaptic vesicle recycling.,,"ALKKUCS [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84162"">84162</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24964"">K24964</a>]",,,,,,"ICD-11: LA0Y
 ICD-10: Q04.8
 OMIM: <a href=""https://www.omim.org/entry/617822"">617822</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29290337"">29290337</a>
 著者        Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A
 タイトル      KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
 雑誌        Am J Hum Genet 102:116-132 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.12.002"">10.1016/j.ajhg.2017.12.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19640479"">19640479</a>
 著者        Verstreken P, Ohyama T, Haueter C, Habets RL, Lin YQ, Swan LE, Ly CV, Venken KJ, De Camilli P, Bellen HJ
 タイトル      Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling.
 雑誌        Neuron 63:203-15 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2009.06.017"">10.1016/j.neuron.2009.06.017</a>"
H02495,先天性巨大膀胱,,,Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.,先天奇形,,MYOCD [HSA:93649] [KO:K22526],,,,,,"ICD-11: LB31.7
 ICD-10: Q64.7
 MeSH: C536139
 OMIM: 618719","PMID:31513549
 著者        Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE
 タイトル      Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
 雑誌        J Clin Invest 129:5374-5380 (2019)
 DOI:10.1172/JCI128545
 PMID:25805819
 著者        Huang J, Wang T, Wright AC, Yang J, Zhou S, Li L, Yang J, Small A, Parmacek MS
 タイトル      Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.
 雑誌        Proc Natl Acad Sci U S A 112:4447-52 (2015)
 DOI:10.1073/pnas.1420363112","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02495"">H02495</a>",先天性巨大膀胱,Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.,,"MYOCD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:93649"">93649</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22526"">K22526</a>]",,,,,,"ICD-11: LB31.7
 ICD-10: Q64.7
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536139"">C536139</a>
 OMIM: <a href=""https://www.omim.org/entry/618719"">618719</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31513549"">31513549</a>
 著者        Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE
 タイトル      Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
 雑誌        J Clin Invest 129:5374-5380 (2019)
 DOI:<a href=""https://doi.org/10.1172/JCI128545"">10.1172/JCI128545</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25805819"">25805819</a>
 著者        Huang J, Wang T, Wright AC, Yang J, Zhou S, Li L, Yang J, Small A, Parmacek MS
 タイトル      Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.
 雑誌        Proc Natl Acad Sci U S A 112:4447-52 (2015)
 DOI:<a href=""https://doi.org/10.1073/pnas.1420363112"">10.1073/pnas.1420363112</a>"
H02496,小脳、眼、頭蓋顔面および生殖器症候群,,,"Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism.",先天奇形,,MAB21L1 [HSA:4081] [KO:K23092],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 618479","PMID:30487245
 著者        Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M
 タイトル      MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
 雑誌        J Med Genet 56:332-339 (2019)
 DOI:10.1136/jmedgenet-2018-105623
 PMID:27103078
 著者        Bruel AL, Masurel-Paulet A, Riviere JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J
 タイトル      Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
 雑誌        Clin Genet 91:333-338 (2017)
 DOI:10.1111/cge.12794","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02496"">H02496</a>",小脳、眼、頭蓋顔面および生殖器症候群,"Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism.",,"MAB21L1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4081"">4081</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23092"">K23092</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618479"">618479</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30487245"">30487245</a>
 著者        Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M
 タイトル      MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
 雑誌        J Med Genet 56:332-339 (2019)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2018-105623"">10.1136/jmedgenet-2018-105623</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27103078"">27103078</a>
 著者        Bruel AL, Masurel-Paulet A, Riviere JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J
 タイトル      Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
 雑誌        Clin Genet 91:333-338 (2017)
 DOI:<a href=""https://doi.org/10.1111/cge.12794"">10.1111/cge.12794</a>"
H02497,Smith-McCort 異形成症,,,"Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence and no microcephaly. SMC has been shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport of Golgi vesicles.",先天奇形,,"(SMC1) DYM [HSA:54808] [KO:K23951]
 (SMC2) RAB33B [HSA:83452] [KO:K07920]",,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: C564589
 OMIM: 607326 615222","PMID:16206059
 著者        Bayrak IK, Nural MS, Diren HB
 タイトル      Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).
 雑誌        Diagn Interv Radiol 11:163-5 (2005)
 PMID:23042644
 著者        Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V
 タイトル      A novel RAB33B mutation in Smith-McCort dysplasia.
 雑誌        Hum Mutat 34:283-6 (2013)
 DOI:10.1002/humu.22235","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02497"">H02497</a>",Smith-McCort 異形成症,"Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00757"">H00757</a>] but with normal intelligence and no microcephaly. SMC has been shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport of Golgi vesicles.",,"(SMC1) DYM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54808"">54808</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23951"">K23951</a>]
 (SMC2) RAB33B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:83452"">83452</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07920"">K07920</a>]",,,,,,"ICD-11: LD24.3
 ICD-10: Q87.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C564589"">C564589</a>
 OMIM: <a href=""https://www.omim.org/entry/607326"">607326</a> <a href=""https://www.omim.org/entry/615222"">615222</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16206059"">16206059</a>
 著者        Bayrak IK, Nural MS, Diren HB
 タイトル      Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).
 雑誌        Diagn Interv Radiol 11:163-5 (2005)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23042644"">23042644</a>
 著者        Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V
 タイトル      A novel RAB33B mutation in Smith-McCort dysplasia.
 雑誌        Hum Mutat 34:283-6 (2013)
 DOI:<a href=""https://doi.org/10.1002/humu.22235"">10.1002/humu.22235</a>"
H02498,糖尿病性心筋症,,,"Diabetic cardiomyopathy has been defined as left ventricular dysfunction that occurs among patients with diabetes mellitus independent of a recognized cause such as coronary artery disease or hypertension. The pathogenesis of diabetic cardiomyopathy broadly involves hyperglycemia, increased circulating fatty acids, and insulin resistance contributing to reactive oxygen species (ROS) generation, mitochondrial dysfunction, impaired calcium metabolism, Renin-Angiotensin System (RAS) activation, and altered substrate metabolism. These effects result in cardiac fibrosis, hypertrophy, cardiomyocyte death, contractile dysfunction, endothelial cell damage and eventually heart failure. In the process of cardiac fibrosis, cardiac fibroblasts are the final effector cell.",循環器系疾患、内分泌代謝疾患,,,,,,,,"ICD-11: BC43.7
 ICD-10: I43.1
 MeSH: D058065","PMID:29109032
 著者        Varma U, Koutsifeli P, Benson VL, Mellor KM, Delbridge LMD
 タイトル      Molecular mechanisms of cardiac pathology in diabetes - Experimental insights.
 雑誌        Biochim Biophys Acta Mol Basis Dis 1864:1949-1959 (2018)
 DOI:10.1016/j.bbadis.2017.10.035
 PMID:26678809
 著者        Jia G, DeMarco VG, Sowers JR
 タイトル      Insulin resistance and hyperinsulinaemia in diabetic cardiomyopathy.
 雑誌        Nat Rev Endocrinol 12:144-53 (2016)
 DOI:10.1038/nrendo.2015.216
 PMID:24307101
 著者        Joshi M, Kotha SR, Malireddy S, Selvaraju V, Satoskar AR, Palesty A, McFadden DW, Parinandi NL, Maulik N
 タイトル      Conundrum of pathogenesis of diabetic cardiomyopathy: role of vascular endothelial dysfunction, reactive oxygen species, and mitochondria.
 雑誌        Mol Cell Biochem 386:233-49 (2014)
 DOI:10.1007/s11010-013-1861-x
 PMID:29605388
 著者        Palomer X, Pizarro-Delgado J, Vazquez-Carrera M
 タイトル      Emerging Actors in Diabetic Cardiomyopathy: Heartbreaker Biomarkers or Therapeutic Targets?
 雑誌        Trends Pharmacol Sci 39:452-467 (2018)
 DOI:10.1016/j.tips.2018.02.010
 PMID:32024054
 著者        Levick SP, Widiapradja A
 タイトル      The Diabetic Cardiac Fibroblast: Mechanisms Underlying Phenotype and Function.
 雑誌        Int J Mol Sci 21:E970 (2020)
 DOI:10.3390/ijms21030970","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02498"">H02498</a>",糖尿病性心筋症,"Diabetic cardiomyopathy has been defined as left ventricular dysfunction that occurs among patients with diabetes mellitus independent of a recognized cause such as coronary artery disease or hypertension. The pathogenesis of diabetic cardiomyopathy broadly involves hyperglycemia, increased circulating fatty acids, and insulin resistance contributing to reactive oxygen species (ROS) generation, mitochondrial dysfunction, impaired calcium metabolism, Renin-Angiotensin System (RAS) activation, and altered substrate metabolism. These effects result in cardiac fibrosis, hypertrophy, cardiomyocyte death, contractile dysfunction, endothelial cell damage and eventually heart failure. In the process of cardiac fibrosis, cardiac fibroblasts are the final effector cell.",,,,,,,,"ICD-11: BC43.7
 ICD-10: I43.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D058065"">D058065</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29109032"">29109032</a>
 著者        Varma U, Koutsifeli P, Benson VL, Mellor KM, Delbridge LMD
 タイトル      Molecular mechanisms of cardiac pathology in diabetes - Experimental insights.
 雑誌        Biochim Biophys Acta Mol Basis Dis 1864:1949-1959 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.bbadis.2017.10.035"">10.1016/j.bbadis.2017.10.035</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26678809"">26678809</a>
 著者        Jia G, DeMarco VG, Sowers JR
 タイトル      Insulin resistance and hyperinsulinaemia in diabetic cardiomyopathy.
 雑誌        Nat Rev Endocrinol 12:144-53 (2016)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2015.216"">10.1038/nrendo.2015.216</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24307101"">24307101</a>
 著者        Joshi M, Kotha SR, Malireddy S, Selvaraju V, Satoskar AR, Palesty A, McFadden DW, Parinandi NL, Maulik N
 タイトル      Conundrum of pathogenesis of diabetic cardiomyopathy: role of vascular endothelial dysfunction, reactive oxygen species, and mitochondria.
 雑誌        Mol Cell Biochem 386:233-49 (2014)
 DOI:<a href=""https://doi.org/10.1007/s11010-013-1861-x"">10.1007/s11010-013-1861-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29605388"">29605388</a>
 著者        Palomer X, Pizarro-Delgado J, Vazquez-Carrera M
 タイトル      Emerging Actors in Diabetic Cardiomyopathy: Heartbreaker Biomarkers or Therapeutic Targets?
 雑誌        Trends Pharmacol Sci 39:452-467 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.tips.2018.02.010"">10.1016/j.tips.2018.02.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32024054"">32024054</a>
 著者        Levick SP, Widiapradja A
 タイトル      The Diabetic Cardiac Fibroblast: Mechanisms Underlying Phenotype and Function.
 雑誌        Int J Mol Sci 21:E970 (2020)
 DOI:<a href=""https://doi.org/10.3390/ijms21030970"">10.3390/ijms21030970</a>"
H02499,"AL アミロイド症;
 免疫グロブリン軽鎖アミロイド症",,,"Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is a disorder of plasma cells or less commonly B cells that produce misfolded immunoglobulin light chain that deposits in tissues of a variety of organs causing organ dysfunction. Commonly affected organs include the heart, kidney, liver, soft tissues, peripheral and/or autonomic nerves, and the gastrointestinal tract.",内分泌代謝疾患,,,,,,"デキサメタゾン [DR:D00292]
 シクロホスファミド水和物 [DR:D00287]
 ボルテゾミブ [DR:D03150]
 ダラツムマブ・ボルヒアルロニダーゼアルファ [DR:D11967]",,"ICD-11: 5D00.0
 ICD-10: E85.8
 MeSH: D000075363","PMID:29222231
 著者        Merlini G
 タイトル      AL amyloidosis: from molecular mechanisms to targeted therapies.
 雑誌        Hematology Am Soc Hematol Educ Program 2017:1-12 (2017)
 DOI:10.1182/asheducation-2017.1.1
 PMID:30033840
 著者        Sidiqi MH, Gertz MA
 タイトル      Daratumumab for the treatment of AL amyloidosis.
 雑誌        Leuk Lymphoma 60:295-301 (2019)
 DOI:10.1080/10428194.2018.1485914","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02499"">H02499</a>","AL アミロイド症;
 免疫グロブリン軽鎖アミロイド症","Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is a disorder of plasma cells or less commonly B cells that produce misfolded immunoglobulin light chain that deposits in tissues of a variety of organs causing organ dysfunction. Commonly affected organs include the heart, kidney, liver, soft tissues, peripheral and/or autonomic nerves, and the gastrointestinal tract.",,,,,,"デキサメタゾン [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00292"">D00292</a>]
 シクロホスファミド水和物 [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D00287"">D00287</a>]
 ボルテゾミブ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03150"">D03150</a>]
 ダラツムマブ・ボルヒアルロニダーゼアルファ [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D11967"">D11967</a>]",,"ICD-11: 5D00.0
 ICD-10: E85.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000075363"">D000075363</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29222231"">29222231</a>
 著者        Merlini G
 タイトル      AL amyloidosis: from molecular mechanisms to targeted therapies.
 雑誌        Hematology Am Soc Hematol Educ Program 2017:1-12 (2017)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2017.1.1"">10.1182/asheducation-2017.1.1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30033840"">30033840</a>
 著者        Sidiqi MH, Gertz MA
 タイトル      Daratumumab for the treatment of AL amyloidosis.
 雑誌        Leuk Lymphoma 60:295-301 (2019)
 DOI:<a href=""https://doi.org/10.1080/10428194.2018.1485914"">10.1080/10428194.2018.1485914</a>"
H02500,ネフローゼ症候群と表皮水疱症を伴う先天性間質性肺疾患,,,"Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin.",先天奇形,,ITGA3 [HSA:3675] [KO:K06482],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 614748","PMID:22512483
 著者        Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF
 タイトル      Integrin alpha3 mutations with kidney, lung, and skin disease.
 雑誌        N Engl J Med 366:1508-14 (2012)
 DOI:10.1056/NEJMoa1110813
 PMID:25810266
 著者        Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C
 タイトル      Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome.
 雑誌        Hum Mol Genet 24:3679-88 (2015)
 DOI:10.1093/hmg/ddv111","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02500"">H02500</a>",ネフローゼ症候群と表皮水疱症を伴う先天性間質性肺疾患,"Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin.",,"ITGA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3675"">3675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06482"">K06482</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/614748"">614748</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22512483"">22512483</a>
 著者        Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF
 タイトル      Integrin alpha3 mutations with kidney, lung, and skin disease.
 雑誌        N Engl J Med 366:1508-14 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1110813"">10.1056/NEJMoa1110813</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25810266"">25810266</a>
 著者        Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C
 タイトル      Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome.
 雑誌        Hum Mol Genet 24:3679-88 (2015)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddv111"">10.1093/hmg/ddv111</a>"
H02501,後頭皮質異形成,,,"Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria. LAMC3 gene encodes the gamma 3 chain of the laminin family proteins, which play a crucial part in cell differentiation, migration, and adhesion.",先天奇形,,LAMC3 [HSA:10319] [KO:K06247],,,,,,"ICD-11: LA05.Y
 ICD-10: Q04.3
 MeSH: D054220
 OMIM: 614115","PMID:21572413
 著者        Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M
 タイトル      Recessive LAMC3 mutations cause malformations of occipital cortical development.
 雑誌        Nat Genet 43:590-4 (2011)
 DOI:10.1038/ng.836
 PMID:29626609
 著者        Urgen BM, Topac Y, Ustun FS, Demirayak P, Oguz KK, Kansu T, Saygi S, Ozcelik T, Boyaci H, Doerschner K
 タイトル      Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.
 雑誌        Neuroimage 190:242-253 (2019)
 DOI:10.1016/j.neuroimage.2018.03.077","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02501"">H02501</a>",後頭皮質異形成,"Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria. LAMC3 gene encodes the gamma 3 chain of the laminin family proteins, which play a crucial part in cell differentiation, migration, and adhesion.",,"LAMC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10319"">10319</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06247"">K06247</a>]",,,,,,"ICD-11: LA05.Y
 ICD-10: Q04.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054220"">D054220</a>
 OMIM: <a href=""https://www.omim.org/entry/614115"">614115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21572413"">21572413</a>
 著者        Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M
 タイトル      Recessive LAMC3 mutations cause malformations of occipital cortical development.
 雑誌        Nat Genet 43:590-4 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.836"">10.1038/ng.836</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29626609"">29626609</a>
 著者        Urgen BM, Topac Y, Ustun FS, Demirayak P, Oguz KK, Kansu T, Saygi S, Ozcelik T, Boyaci H, Doerschner K
 タイトル      Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.
 雑誌        Neuroimage 190:242-253 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.neuroimage.2018.03.077"">10.1016/j.neuroimage.2018.03.077</a>"
H02502,"関節弛緩・低身長および近視
 上位グループ    ラーセン症候群 [DS:H02048]",,,"Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement. GZF1 encodes a transcription factor which is expressed in the eyes and limbs.",先天奇形,,GZF1 [HSA:64412] [KO:K22402],,,,,,"ICD-11: LD28.Y
 ICD-10: Q87.1
 MeSH: D007593
 OMIM: 617662","PMID:28475863
 著者        Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS
 タイトル      GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
 雑誌        Am J Hum Genet 100:831-836 (2017)
 DOI:10.1016/j.ajhg.2017.04.008","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02502"">H02502</a>","関節弛緩・低身長および近視
 上位グループ    ラーセン症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02048"">H02048</a>]","Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement. GZF1 encodes a transcription factor which is expressed in the eyes and limbs.",,"GZF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64412"">64412</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22402"">K22402</a>]",,,,,,"ICD-11: LD28.Y
 ICD-10: Q87.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007593"">D007593</a>
 OMIM: <a href=""https://www.omim.org/entry/617662"">617662</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28475863"">28475863</a>
 著者        Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS
 タイトル      GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
 雑誌        Am J Hum Genet 100:831-836 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.04.008"">10.1016/j.ajhg.2017.04.008</a>"
H02503,Richieri-Costa-Pereira 症候群,,,"Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.",先天奇形,,EIF4A3 [HSA:9775] [KO:K13025],,,,,"The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: C535677
 OMIM: 268305","PMID:24360810
 著者        Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR
 タイトル      A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
 雑誌        Am J Hum Genet 94:120-8 (2014)
 DOI:10.1016/j.ajhg.2013.11.020
 PMID:29922329
 著者        Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR
 タイトル      Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
 雑誌        Front Genet 9:149 (2018)
 DOI:10.3389/fgene.2018.00149
 PMID:21464188
 著者        Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
 タイトル      Robin sequence: from diagnosis to development of an effective management plan.
 雑誌        Pediatrics 127:936-48 (2011)
 DOI:10.1542/peds.2010-2615","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02503"">H02503</a>",Richieri-Costa-Pereira 症候群,"Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.",,"EIF4A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9775"">9775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13025"">K13025</a>]",,,,,"The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence.","ICD-11: LD2F.1Y
 ICD-10: Q87.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C535677"">C535677</a>
 OMIM: <a href=""https://www.omim.org/entry/268305"">268305</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24360810"">24360810</a>
 著者        Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR
 タイトル      A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
 雑誌        Am J Hum Genet 94:120-8 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2013.11.020"">10.1016/j.ajhg.2013.11.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29922329"">29922329</a>
 著者        Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR
 タイトル      Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
 雑誌        Front Genet 9:149 (2018)
 DOI:<a href=""https://doi.org/10.3389/fgene.2018.00149"">10.3389/fgene.2018.00149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21464188"">21464188</a>
 著者        Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
 タイトル      Robin sequence: from diagnosis to development of an effective management plan.
 雑誌        Pediatrics 127:936-48 (2011)
 DOI:<a href=""https://doi.org/10.1542/peds.2010-2615"">10.1542/peds.2010-2615</a>"
H02504,血小板機能障害を伴う反復性消化性潰瘍,,,"Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding beginning at an early age. cPLA2 catalyzes the hydrolysis of phospholipids to arachidonic acid and lysophospholipids that are precursors of numerous bioactive lipids.",消化器系疾患,,PLA2G4A [HSA:5321] [KO:K16342],,,,,,"ICD-11: DA60.Y
 ICD-10: K27.4
 MeSH: D010438
 OMIM: 618372","PMID:18451993
 著者        Adler DH, Cogan JD, Phillips JA 3rd, Schnetz-Boutaud N, Milne GL, Iverson T, Stein JA, Brenner DA, Morrow JD, Boutaud O, Oates JA
 タイトル      Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.
 雑誌        J Clin Invest 118:2121-31 (2008)
 DOI:10.1172/JCI30473
 PMID:25838312
 著者        Leslie CC
 タイトル      Cytosolic phospholipase A(2): physiological function and role in disease.
 雑誌        J Lipid Res 56:1386-402 (2015)
 DOI:10.1194/jlr.R057588","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02504"">H02504</a>",血小板機能障害を伴う反復性消化性潰瘍,"Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding beginning at an early age. cPLA2 catalyzes the hydrolysis of phospholipids to arachidonic acid and lysophospholipids that are precursors of numerous bioactive lipids.",,"PLA2G4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5321"">5321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16342"">K16342</a>]",,,,,,"ICD-11: DA60.Y
 ICD-10: K27.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010438"">D010438</a>
 OMIM: <a href=""https://www.omim.org/entry/618372"">618372</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18451993"">18451993</a>
 著者        Adler DH, Cogan JD, Phillips JA 3rd, Schnetz-Boutaud N, Milne GL, Iverson T, Stein JA, Brenner DA, Morrow JD, Boutaud O, Oates JA
 タイトル      Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.
 雑誌        J Clin Invest 118:2121-31 (2008)
 DOI:<a href=""https://doi.org/10.1172/JCI30473"">10.1172/JCI30473</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25838312"">25838312</a>
 著者        Leslie CC
 タイトル      Cytosolic phospholipase A(2): physiological function and role in disease.
 雑誌        J Lipid Res 56:1386-402 (2015)
 DOI:<a href=""https://doi.org/10.1194/jlr.R057588"">10.1194/jlr.R057588</a>"
H02505,アテローム性動脈硬化,,,"Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority of cardiovascular diseases (CVDs) and their complications, including conditions such as coronary artery disease, myocardial infarction and stroke. Atherosclerosis develops as a result of the interactions of various genetic and environmental factors. Elevated cholesterol and LDLcholesterol (LDL-C) levels are the main risk factors that associated with the formation of atherosclerotic plaques and the development of atherosclerosis.",循環器系疾患,,"LDLR [HSA:3949] [KO:K12473]
 APOB [HSA:338] [KO:K14462]
 PCSK9 [HSA:255738] [KO:K13050]
 LDLRAP1 [HSA:26119] [KO:K12474]
 ABCG5 [HSA:64240] [KO:K05683]
 ABCG8 [HSA:64241] [KO:K05684]
 LCAT [HSA:3931] [KO:K00650]
 ABCA1 [HSA:19] [KO:K05641]
 APOA1 [HSA:335] [KO:K08757]
 MEF2A [HSA:4205] [KO:K09260]
 LRP6 [HSA:4040] [KO:K03068]",,,,,,"ICD-11: BD40
 ICD-10: I70
 MeSH: D050197","PMID:19301036
 著者        Roy H, Bhardwaj S, Yla-Herttuala S
 タイトル      Molecular genetics of atherosclerosis.
 雑誌        Hum Genet 125:467-91 (2009)
 DOI:10.1007/s00439-009-0654-5
 PMID:15485348
 著者        Lusis AJ, Mar R, Pajukanta P
 タイトル      Genetics of atherosclerosis.
 雑誌        Annu Rev Genomics Hum Genet 5:189-218 (2004)
 DOI:10.1146/annurev.genom.5.061903.175930
 PMID:30276232
 著者        Jackson AO, Regine MA, Subrata C, Long S
 タイトル      Molecular mechanisms and genetic regulation in atherosclerosis.
 雑誌        Int J Cardiol Heart Vasc 21:36-44 (2018)
 DOI:10.1016/j.ijcha.2018.09.006
 PMID:32378144
 著者        Koushki K, Shahbaz SK, Mashayekhi K, Sadeghi M, Zayeri ZD, Taba MY, Banach M, Al-Rasadi K, Johnston TP, Sahebkar A
 タイトル      Anti-inflammatory Action of Statins in Cardiovascular Disease: the Role of Inflammasome and Toll-Like Receptor Pathways.
 雑誌        Clin Rev Allergy Immunol 10.1007/s12016-020-08791-9 (2020)
 DOI:10.1007/s12016-020-08791-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02505"">H02505</a>",アテローム性動脈硬化,"Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority of cardiovascular diseases (CVDs) and their complications, including conditions such as coronary artery disease, myocardial infarction and stroke. Atherosclerosis develops as a result of the interactions of various genetic and environmental factors. Elevated cholesterol and LDLcholesterol (LDL-C) levels are the main risk factors that associated with the formation of atherosclerotic plaques and the development of atherosclerosis.",,"LDLR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3949"">3949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12473"">K12473</a>]
 APOB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:338"">338</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14462"">K14462</a>]
 PCSK9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:255738"">255738</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13050"">K13050</a>]
 LDLRAP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26119"">26119</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12474"">K12474</a>]
 ABCG5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64240"">64240</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05683"">K05683</a>]
 ABCG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64241"">64241</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05684"">K05684</a>]
 LCAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3931"">3931</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00650"">K00650</a>]
 ABCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:19"">19</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05641"">K05641</a>]
 APOA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:335"">335</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08757"">K08757</a>]
 MEF2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4205"">4205</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09260"">K09260</a>]
 LRP6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4040"">4040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03068"">K03068</a>]",,,,,,"ICD-11: BD40
 ICD-10: I70
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D050197"">D050197</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19301036"">19301036</a>
 著者        Roy H, Bhardwaj S, Yla-Herttuala S
 タイトル      Molecular genetics of atherosclerosis.
 雑誌        Hum Genet 125:467-91 (2009)
 DOI:<a href=""https://doi.org/10.1007/s00439-009-0654-5"">10.1007/s00439-009-0654-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15485348"">15485348</a>
 著者        Lusis AJ, Mar R, Pajukanta P
 タイトル      Genetics of atherosclerosis.
 雑誌        Annu Rev Genomics Hum Genet 5:189-218 (2004)
 DOI:<a href=""https://doi.org/10.1146/annurev.genom.5.061903.175930"">10.1146/annurev.genom.5.061903.175930</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30276232"">30276232</a>
 著者        Jackson AO, Regine MA, Subrata C, Long S
 タイトル      Molecular mechanisms and genetic regulation in atherosclerosis.
 雑誌        Int J Cardiol Heart Vasc 21:36-44 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ijcha.2018.09.006"">10.1016/j.ijcha.2018.09.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32378144"">32378144</a>
 著者        Koushki K, Shahbaz SK, Mashayekhi K, Sadeghi M, Zayeri ZD, Taba MY, Banach M, Al-Rasadi K, Johnston TP, Sahebkar A
 タイトル      Anti-inflammatory Action of Statins in Cardiovascular Disease: the Role of Inflammasome and Toll-Like Receptor Pathways.
 雑誌        Clin Rev Allergy Immunol 10.1007/s12016-020-08791-9 (2020)
 DOI:<a href=""https://doi.org/10.1007/s12016-020-08791-9"">10.1007/s12016-020-08791-9</a>"
H02506,心・肢先端・顔面異形成,,,"Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an atrioventricular septal defect or a common atrium along with postaxial polydactyly.",先天奇形,,"(CAFD1) PRKACA [HSA:5566] [KO:K04345]
 (CAFD2) PRKACB [HSA:5567] [KO:K04345]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 619142 619143","PMID:33058759
 著者        Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibaek M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skalhegg BS, Otaify GA, Temtamy S, Aglan M, Jonch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
 タイトル      Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
 雑誌        Am J Hum Genet 107:977-988 (2020)
 DOI:10.1016/j.ajhg.2020.09.005
 PMID:22514673
 著者        Soberg K, Larsen AC, Diskar M, Backe PH, Bjoras M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skalhegg BS
 タイトル      Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).
 雑誌        PLoS One 7:e34838 (2012)
 DOI:10.1371/journal.pone.0034838
 PMID:33055300
 著者        Espiard S, Drougat L, Settas N, Haydar S, Bathon K, London E, Levy I, Faucz FR, Calebiro D, Bertherat J, Li D, Levine MA, Stratakis CA
 タイトル      PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
 雑誌        Endocr Relat Cancer 27:647-656 (2020)
 DOI:10.1530/ERC-20-0309","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02506"">H02506</a>",心・肢先端・顔面異形成,"Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an atrioventricular septal defect or a common atrium along with postaxial polydactyly.",,"(CAFD1) PRKACA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5566"">5566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]
 (CAFD2) PRKACB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5567"">5567</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04345"">K04345</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/619142"">619142</a> <a href=""https://www.omim.org/entry/619143"">619143</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33058759"">33058759</a>
 著者        Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibaek M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skalhegg BS, Otaify GA, Temtamy S, Aglan M, Jonch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
 タイトル      Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
 雑誌        Am J Hum Genet 107:977-988 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.09.005"">10.1016/j.ajhg.2020.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22514673"">22514673</a>
 著者        Soberg K, Larsen AC, Diskar M, Backe PH, Bjoras M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skalhegg BS
 タイトル      Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).
 雑誌        PLoS One 7:e34838 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0034838"">10.1371/journal.pone.0034838</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33055300"">33055300</a>
 著者        Espiard S, Drougat L, Settas N, Haydar S, Bathon K, London E, Levy I, Faucz FR, Calebiro D, Bertherat J, Li D, Levine MA, Stratakis CA
 タイトル      PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
 雑誌        Endocr Relat Cancer 27:647-656 (2020)
 DOI:<a href=""https://doi.org/10.1530/ERC-20-0309"">10.1530/ERC-20-0309</a>"
H02507,Pilarowski-Bjornsson 症候群,,,"Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations in the chromatin remodeler CHD1 are associated with PILBOS.",精神及び行動の障害,,CHD1 [HSA:1105] [KO:K11367],,,,,,"ICD-11: 6A02.3
 ICD-10: F84.9
 OMIM: 617682","PMID:28866611
 著者        Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT
 タイトル      Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
 雑誌        J Med Genet 55:561-566 (2018)
 DOI:10.1136/jmedgenet-2017-104759","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02507"">H02507</a>",Pilarowski-Bjornsson 症候群,"Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations in the chromatin remodeler CHD1 are associated with PILBOS.",,"CHD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1105"">1105</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11367"">K11367</a>]",,,,,,"ICD-11: 6A02.3
 ICD-10: F84.9
 OMIM: <a href=""https://www.omim.org/entry/617682"">617682</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28866611"">28866611</a>
 著者        Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT
 タイトル      Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
 雑誌        J Med Genet 55:561-566 (2018)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2017-104759"">10.1136/jmedgenet-2017-104759</a>"
H02508,脳梁、心臓、目および生殖器形成不全症候群,,,"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding.",先天奇形,,CDH2 [HSA:1000] [KO:K06736],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: 618929","PMID:31585109
 著者        Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Riviere JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M
 タイトル      De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
 雑誌        Am J Hum Genet 105:854-868 (2019)
 DOI:10.1016/j.ajhg.2019.09.005
 PMID:31650526
 著者        Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV
 タイトル      Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
 雑誌        Clin Genet 97:502-508 (2020)
 DOI:10.1111/cge.13660","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02508"">H02508</a>",脳梁、心臓、目および生殖器形成不全症候群,"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding.",,"CDH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1000"">1000</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06736"">K06736</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618929"">618929</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31585109"">31585109</a>
 著者        Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Riviere JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M
 タイトル      De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
 雑誌        Am J Hum Genet 105:854-868 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.09.005"">10.1016/j.ajhg.2019.09.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31650526"">31650526</a>
 著者        Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV
 タイトル      Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
 雑誌        Clin Genet 97:502-508 (2020)
 DOI:<a href=""https://doi.org/10.1111/cge.13660"">10.1111/cge.13660</a>"
H02509,水疱性口内炎熱,,,"Vesicular stomatitis fever is a infectious disease caused by Vesicular stomatitis virus (VSV), belong to the genus Vesiculovirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. Clinical disease has been observed in cattle, horses, pigs and camel. The VSV is zoonotic and causes flu-like symptom. Encephalitis is rare but may occur in children. The transmission is more likely by trans-cutaneous or transmucosal route.",感染症,,,"Vesicular stomatitis Indiana virus
 Vesicular stomatitis New Jersey virus",,,,,"ICD-11: 1D4Y
 MeSH: D054243","PMID:12949408
 著者        Sur JH, Allende R, Doster AR
 タイトル      Vesicular stomatitis virus infection and neuropathogenesis in the murine model are associated with apoptosis.
 雑誌        Vet Pathol 40:512-20 (2003)
 DOI:10.1354/vp.40-5-512
 PMID:30288197
 著者        Kumar B, Manuja A, Gulati BR, Virmani N, Tripathi BN
 タイトル      Zoonotic Viral Diseases of Equines and Their Impact on Human and Animal Health.
 雑誌        Open Virol J 12:80-98 (2018)
 DOI:10.2174/1874357901812010080","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02509"">H02509</a>",水疱性口内炎熱,"Vesicular stomatitis fever is a infectious disease caused by Vesicular stomatitis virus (VSV), belong to the genus Vesiculovirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. Clinical disease has been observed in cattle, horses, pigs and camel. The VSV is zoonotic and causes flu-like symptom. Encephalitis is rare but may occur in children. The transmission is more likely by trans-cutaneous or transmucosal route.",,,"Vesicular stomatitis Indiana virus
 Vesicular stomatitis New Jersey virus",,,,,"ICD-11: 1D4Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054243"">D054243</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12949408"">12949408</a>
 著者        Sur JH, Allende R, Doster AR
 タイトル      Vesicular stomatitis virus infection and neuropathogenesis in the murine model are associated with apoptosis.
 雑誌        Vet Pathol 40:512-20 (2003)
 DOI:<a href=""https://doi.org/10.1354/vp.40-5-512"">10.1354/vp.40-5-512</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30288197"">30288197</a>
 著者        Kumar B, Manuja A, Gulati BR, Virmani N, Tripathi BN
 タイトル      Zoonotic Viral Diseases of Equines and Their Impact on Human and Animal Health.
 雑誌        Open Virol J 12:80-98 (2018)
 DOI:<a href=""https://doi.org/10.2174/1874357901812010080"">10.2174/1874357901812010080</a>"
H02510,Jaberi-Elahi 症候群,,,"Jaberi-Elahi syndrome is an autosomal recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 cause this syndrome.",神経系疾患,,GTPBP2 [HSA:54676] [KO:K24888],,,,,,"ICD-11: 6A0Y
 OMIM: 617988","PMID:29449720
 著者        Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yuksel Z, Marais A, Gruning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P
 タイトル      Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
 雑誌        Eur J Hum Genet 26:592-598 (2018)
 DOI:10.1038/s41431-018-0097-3
 PMID:26675814
 著者        Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, KaramiNejadRanjbar M, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E
 タイトル      Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
 雑誌        Neurobiol Aging 38:216.e11-216.e18 (2016)
 DOI:10.1016/j.neurobiolaging.2015.10.034","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02510"">H02510</a>",Jaberi-Elahi 症候群,"Jaberi-Elahi syndrome is an autosomal recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 cause this syndrome.",,"GTPBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54676"">54676</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24888"">K24888</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/617988"">617988</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29449720"">29449720</a>
 著者        Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yuksel Z, Marais A, Gruning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P
 タイトル      Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
 雑誌        Eur J Hum Genet 26:592-598 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0097-3"">10.1038/s41431-018-0097-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26675814"">26675814</a>
 著者        Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, KaramiNejadRanjbar M, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E
 タイトル      Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
 雑誌        Neurobiol Aging 38:216.e11-216.e18 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.neurobiolaging.2015.10.034"">10.1016/j.neurobiolaging.2015.10.034</a>"
H02511,ジェームスタウンキャニオン脳炎,,,"Jamestown Canyon encephalitis is a rare infectious disease characterized by acute fever, meningitis, or meningoencephalitis. It is caused by Jamestown Canyon virus (JCV), a mosquito-borne orthobunyavirus in the California serogroup in the order Bunyavirales of -ssRNA viruses. JCV was first isolated in 1961 from mosquitoes in Jamestown, Colorado. Since then, the virus has been isolated from various mosquito species. JCV neutralizing antibodies have been found in various mammals throughout mainland North America, and identified in humans.",感染症,,,Jamestown Canyon virus [GN:T40369],,,,,"ICD-11: 1C80
 MeSH: D002141","PMID:31533182
 著者        Gill CM, Beckham JD, Piquet AL, Tyler KL, Pastula DM
 タイトル      Five Emerging Neuroinvasive Arboviral Diseases: Cache Valley, Eastern Equine Encephalitis, Jamestown Canyon, Powassan, and Usutu.
 雑誌        Semin Neurol 39:419-427 (2019)
 DOI:10.1055/s-0039-1687839
 PMID:29881809
 著者        Savard M, Paradis A, Francoeur CL
 タイトル      Jamestown Canyon encephalitis with NORSE and electrographic response to ribavirin: a case report.
 雑誌        Epilepsia Open 3:286-289 (2018)
 DOI:10.1002/epi4.12113
 PMID:26033022
 著者        Pastula DM, Hoang Johnson DK, White JL, Dupuis AP 2nd, Fischer M, Staples JE
 タイトル      Jamestown Canyon Virus Disease in the United States-2000-2013.
 雑誌        Am J Trop Med Hyg 93:384-9 (2015)
 DOI:10.4269/ajtmh.15-0196","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02511"">H02511</a>",ジェームスタウンキャニオン脳炎,"Jamestown Canyon encephalitis is a rare infectious disease characterized by acute fever, meningitis, or meningoencephalitis. It is caused by Jamestown Canyon virus (JCV), a mosquito-borne orthobunyavirus in the California serogroup in the order Bunyavirales of -ssRNA viruses. JCV was first isolated in 1961 from mosquitoes in Jamestown, Colorado. Since then, the virus has been isolated from various mosquito species. JCV neutralizing antibodies have been found in various mammals throughout mainland North America, and identified in humans.",,,"Jamestown Canyon virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40369"">T40369</a>]",,,,,"ICD-11: 1C80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D002141"">D002141</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31533182"">31533182</a>
 著者        Gill CM, Beckham JD, Piquet AL, Tyler KL, Pastula DM
 タイトル      Five Emerging Neuroinvasive Arboviral Diseases: Cache Valley, Eastern Equine Encephalitis, Jamestown Canyon, Powassan, and Usutu.
 雑誌        Semin Neurol 39:419-427 (2019)
 DOI:<a href=""https://doi.org/10.1055/s-0039-1687839"">10.1055/s-0039-1687839</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29881809"">29881809</a>
 著者        Savard M, Paradis A, Francoeur CL
 タイトル      Jamestown Canyon encephalitis with NORSE and electrographic response to ribavirin: a case report.
 雑誌        Epilepsia Open 3:286-289 (2018)
 DOI:<a href=""https://doi.org/10.1002/epi4.12113"">10.1002/epi4.12113</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26033022"">26033022</a>
 著者        Pastula DM, Hoang Johnson DK, White JL, Dupuis AP 2nd, Fischer M, Staples JE
 タイトル      Jamestown Canyon Virus Disease in the United States-2000-2013.
 雑誌        Am J Trop Med Hyg 93:384-9 (2015)
 DOI:<a href=""https://doi.org/10.4269/ajtmh.15-0196"">10.4269/ajtmh.15-0196</a>"
H02512,キャッシュバレーウイルス感染症,,,"Cache Valley virus infection is an infectious disease caused by Cache Valley virus (CVV), a mosquito-borne orthobunyavirus in the order Bunyavirales of -ssRNA viruses. CVV was first isolated in 1956 from Culiseta inornata mosquitoes in the Cache Valley of northern Utah. It circulates in mosquito and animal species across a large area of North, Central and South America. A limited number of human case reports have described severe illness.",感染症,,,Cache Valley virus [GN:T40371],,,,,ICD-11: 1C80,"PMID:31533182
 著者        Gill CM, Beckham JD, Piquet AL, Tyler KL, Pastula DM
 タイトル      Five Emerging Neuroinvasive Arboviral Diseases: Cache Valley, Eastern Equine Encephalitis, Jamestown Canyon, Powassan, and Usutu.
 雑誌        Semin Neurol 39:419-427 (2019)
 DOI:10.1055/s-0039-1687839
 PMID:23515536
 著者        Nguyen NL, Zhao G, Hull R, Shelly MA, Wong SJ, Wu G, St George K, Wang D, Menegus MA
 タイトル      Cache valley virus in a patient diagnosed with aseptic meningitis.
 雑誌        J Clin Microbiol 51:1966-9 (2013)
 DOI:10.1128/JCM.00252-13
 PMID:31254324
 著者        Waddell L, Pachal N, Mascarenhas M, Greig J, Harding S, Young I, Wilhelm B
 タイトル      Cache Valley virus: A scoping review of the global evidence.
 雑誌        Zoonoses Public Health 66:739-758 (2019)
 DOI:10.1111/zph.12621","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02512"">H02512</a>",キャッシュバレーウイルス感染症,"Cache Valley virus infection is an infectious disease caused by Cache Valley virus (CVV), a mosquito-borne orthobunyavirus in the order Bunyavirales of -ssRNA viruses. CVV was first isolated in 1956 from Culiseta inornata mosquitoes in the Cache Valley of northern Utah. It circulates in mosquito and animal species across a large area of North, Central and South America. A limited number of human case reports have described severe illness.",,,"Cache Valley virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40371"">T40371</a>]",,,,,ICD-11: 1C80,"PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31533182"">31533182</a>
 著者        Gill CM, Beckham JD, Piquet AL, Tyler KL, Pastula DM
 タイトル      Five Emerging Neuroinvasive Arboviral Diseases: Cache Valley, Eastern Equine Encephalitis, Jamestown Canyon, Powassan, and Usutu.
 雑誌        Semin Neurol 39:419-427 (2019)
 DOI:<a href=""https://doi.org/10.1055/s-0039-1687839"">10.1055/s-0039-1687839</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23515536"">23515536</a>
 著者        Nguyen NL, Zhao G, Hull R, Shelly MA, Wong SJ, Wu G, St George K, Wang D, Menegus MA
 タイトル      Cache valley virus in a patient diagnosed with aseptic meningitis.
 雑誌        J Clin Microbiol 51:1966-9 (2013)
 DOI:<a href=""https://doi.org/10.1128/JCM.00252-13"">10.1128/JCM.00252-13</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31254324"">31254324</a>
 著者        Waddell L, Pachal N, Mascarenhas M, Greig J, Harding S, Young I, Wilhelm B
 タイトル      Cache Valley virus: A scoping review of the global evidence.
 雑誌        Zoonoses Public Health 66:739-758 (2019)
 DOI:<a href=""https://doi.org/10.1111/zph.12621"">10.1111/zph.12621</a>"
H02513,眼咽頭遠位型ミオパチー,,,"Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM.",筋骨格疾患,,"(OPDM1) LRP12 [HSA:29967] [KO:K20050]
 (OPDM2) GIPC1 [HSA:10755] [KO:K20056]
 (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466]
 (OPDM4) RILPL1 [HSA:353116] [KO:K20173]",,,,,,"ICD-11: 9C82.1
 ICD-10: G71.0
 OMIM: 164310 618940 619473 619790","PMID:32493488 (OPDM1)
 著者        Saito R, Shimizu H, Miura T, Hara N, Mezaki N, Higuchi Y, Miyashita A, Kawachi I, Sanpei K, Honma Y, Onodera O, Ikeuchi T, Kakita A
 タイトル      Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
 雑誌        Acta Neuropathol Commun 8:75 (2020)
 DOI:10.1186/s40478-020-00945-2
 PMID:32413282 (OPDM2)
 著者        Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z
 タイトル      Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
 雑誌        Am J Hum Genet 106:793-804 (2020)
 DOI:10.1016/j.ajhg.2020.04.011
 PMID:33239111 (OPDM3)
 著者        Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I
 タイトル      CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
 雑誌        Acta Neuropathol Commun 8:204 (2020)
 DOI:10.1186/s40478-020-01084-4
 PMID:35148830 (OPDM4)
 著者        Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J
 タイトル      The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
 雑誌        Am J Hum Genet 109:533-541 (2022)
 DOI:10.1016/j.ajhg.2022.01.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02513"">H02513</a>",眼咽頭遠位型ミオパチー,"Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM.",,"(OPDM1) LRP12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29967"">29967</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20050"">K20050</a>]
 (OPDM2) GIPC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10755"">10755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20056"">K20056</a>]
 (OPDM3) NOTCH2NLC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:100996717"">100996717</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24466"">K24466</a>]
 (OPDM4) RILPL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:353116"">353116</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20173"">K20173</a>]",,,,,,"ICD-11: 9C82.1
 ICD-10: G71.0
 OMIM: <a href=""https://www.omim.org/entry/164310"">164310</a> <a href=""https://www.omim.org/entry/618940"">618940</a> <a href=""https://www.omim.org/entry/619473"">619473</a> <a href=""https://www.omim.org/entry/619790"">619790</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32493488"">32493488</a> (OPDM1)
 著者        Saito R, Shimizu H, Miura T, Hara N, Mezaki N, Higuchi Y, Miyashita A, Kawachi I, Sanpei K, Honma Y, Onodera O, Ikeuchi T, Kakita A
 タイトル      Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
 雑誌        Acta Neuropathol Commun 8:75 (2020)
 DOI:<a href=""https://doi.org/10.1186/s40478-020-00945-2"">10.1186/s40478-020-00945-2</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32413282"">32413282</a> (OPDM2)
 著者        Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z
 タイトル      Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
 雑誌        Am J Hum Genet 106:793-804 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.04.011"">10.1016/j.ajhg.2020.04.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33239111"">33239111</a> (OPDM3)
 著者        Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I
 タイトル      CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
 雑誌        Acta Neuropathol Commun 8:204 (2020)
 DOI:<a href=""https://doi.org/10.1186/s40478-020-01084-4"">10.1186/s40478-020-01084-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/35148830"">35148830</a> (OPDM4)
 著者        Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J
 タイトル      The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
 雑誌        Am J Hum Genet 109:533-541 (2022)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2022.01.012"">10.1016/j.ajhg.2022.01.012</a>"
H02514,涙管欠損,,,Lacrimal duct defect (LCDD) is a congenital disease characterized by lacrimal duct partial absence or total lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations in IGSF3 gene have been found in the patients with congenital absence of lacrimal puncta and canaliculi.,先天奇形,,IGSF3 [HSA:3321] [KO:K06522],,,,,,"ICD-11: LA14.14
 ICD-10: Q10.5
 MeSH: D007767
 OMIM: 149700","PMID:32953570
 著者        Wang F, Tao H, Han C, Bai F, Wang P, Zhou XB, Wang LH, Liu C
 タイトル      Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.
 雑誌        Int J Ophthalmol 13:1351-1355 (2020)
 DOI:10.18240/ijo.2020.09.02","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02514"">H02514</a>",涙管欠損,Lacrimal duct defect (LCDD) is a congenital disease characterized by lacrimal duct partial absence or total lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations in IGSF3 gene have been found in the patients with congenital absence of lacrimal puncta and canaliculi.,,"IGSF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3321"">3321</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06522"">K06522</a>]",,,,,,"ICD-11: LA14.14
 ICD-10: Q10.5
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007767"">D007767</a>
 OMIM: <a href=""https://www.omim.org/entry/149700"">149700</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32953570"">32953570</a>
 著者        Wang F, Tao H, Han C, Bai F, Wang P, Zhou XB, Wang LH, Liu C
 タイトル      Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.
 雑誌        Int J Ophthalmol 13:1351-1355 (2020)
 DOI:<a href=""https://doi.org/10.18240/ijo.2020.09.02"">10.18240/ijo.2020.09.02</a>"
H02515,Li-Ghorbani-Weisz-Hubshman 症候群,,,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. KAT8 encodes lysine acetyltransferase 8, that is critical for acetylation of histone H4 at lysine 16.",精神及び行動の障害,,KAT8 [HSA:84148] [KO:K11308],,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: 618974","PMID:31794431
 著者        Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ
 タイトル      Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
 雑誌        J Clin Invest 130:1431-1445 (2020)
 DOI:10.1172/JCI131145","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02515"">H02515</a>",Li-Ghorbani-Weisz-Hubshman 症候群,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. KAT8 encodes lysine acetyltransferase 8, that is critical for acetylation of histone H4 at lysine 16.",,"KAT8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84148"">84148</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11308"">K11308</a>]",,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: <a href=""https://www.omim.org/entry/618974"">618974</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31794431"">31794431</a>
 著者        Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ
 タイトル      Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
 雑誌        J Clin Invest 130:1431-1445 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI131145"">10.1172/JCI131145</a>"
H02516,アルコール性肝疾患,,,"Alcoholic liver disease (ALD) refers to the damages to the liver and its functions due to alcohol overconsumption. It ranges from simple steatosis to steatohepatitis, cirrhosis, and even hepatocellular carcinoma. Alcohol consumption promotes liver inflammation by increasing the translocation of gut-derived endotoxins to the portal circulation and activating Kupffer cells to produce TNF-alpha through the LPS/Toll like receptor (TLR) 4 pathways. TNF-alpha induces hepatocellular damage. When alcohol intake is chronic and heavy, steatosis is caused via generation of acetaldehyde, reactive oxygen species (ROS) and ER stress. ROS inhibits key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated receptor alpha (PPAR-alpha), which are responsible for fatty acid oxidation and export via ACC and CPT-1. The blockade of AMPK also leads to overexpression of SREBP-1, resulting in an increase of de novo lipogenesis. Moreover, excessive intracellular ROS production induced by ethanol and its metabolite has a critical role in ethanol-induced apoptosis, which may be the critical process in the exacerbation of ALD. It is inferred that the apoptotic signal derived from ROS that was produced by NOX, is mainly transduced through the JNK and p38 MAPK pathways.",消化器系疾患,,"PNPLA3 [HSA:80339] [KO:K13534]
 TM6SF2 [HSA:53345] [KO:K25361]
 MBOAT7 [HSA:79143] [KO:K13516]",,Ethanol [CPD:C00469],,,,"ICD-11: DB94
 ICD-10: K70
 MeSH: D008108","PMID:25782093
 著者        Louvet A, Mathurin P
 タイトル      Alcoholic liver disease: mechanisms of injury and targeted treatment.
 雑誌        Nat Rev Gastroenterol Hepatol 12:231-42 (2015)
 DOI:10.1038/nrgastro.2015.35
 PMID:24385684
 著者        Kawaratani H, Tsujimoto T, Douhara A, Takaya H, Moriya K, Namisaki T, Noguchi R, Yoshiji H, Fujimoto M, Fukui H
 タイトル      The effect of inflammatory cytokines in alcoholic liver disease.
 雑誌        Mediators Inflamm 2013:495156 (2013)
 DOI:10.1155/2013/495156
 PMID:28134813
 著者        Magdaleno F, Blajszczak CC, Nieto N
 タイトル      Key Events Participating in the Pathogenesis of Alcoholic Liver Disease.
 雑誌        Biomolecules 7:E9 (2017)
 DOI:10.3390/biom7010009
 PMID:21252049
 著者        Gao B, Seki E, Brenner DA, Friedman S, Cohen JI, Nagy L, Szabo G, Zakhari S
 タイトル      Innate immunity in alcoholic liver disease.
 雑誌        Am J Physiol Gastrointest Liver Physiol 300:G516-25 (2011)
 DOI:10.1152/ajpgi.00537.2010
 PMID:18709650
 著者        Rogers CQ, Ajmo JM, You M
 タイトル      Adiponectin and alcoholic fatty liver disease.
 雑誌        IUBMB Life 60:790-7 (2008)
 DOI:10.1002/iub.124
 PMID:26755857
 著者        Kim MS, Ong M, Qu X
 タイトル      Optimal management for alcoholic liver disease: Conventional medications, natural therapy or combination?
 雑誌        World J Gastroenterol 22:8-23 (2016)
 DOI:10.3748/wjg.v22.i1.8
 PMID:30115921
 著者        Seitz HK, Bataller R, Cortez-Pinto H, Gao B, Gual A, Lackner C, Mathurin P, Mueller S, Szabo G, Tsukamoto H
 タイトル      Alcoholic liver disease.
 雑誌        Nat Rev Dis Primers 4:16 (2018)
 DOI:10.1038/s41572-018-0014-7
 PMID:25964223
 著者        Salameh H, Raff E, Erwin A, Seth D, Nischalke HD, Falleti E, Burza MA, Leathert J, Romeo S, Molinaro A, Corradini SG, Toniutto P, Spengler U, Daly A, Day CP, Kuo YF, Singal AK
 タイトル      PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease.
 雑誌        Am J Gastroenterol 110:846-56 (2015)
 DOI:10.1038/ajg.2015.137
 PMID:21254164 (PNPLA3)
 著者        Stickel F, Buch S, Lau K, Meyer zu Schwabedissen H, Berg T, Ridinger M, Rietschel M, Schafmayer C, Braun F, Hinrichsen H, Gunther R, Arlt A, Seeger M, Muller S, Seitz HK, Soyka M, Lerch M, Lammert F, Sarrazin C, Kubitz R, Haussinger D, Hellerbrand C, Broring D, Schreiber S, Kiefer F, Spanagel R, Mann K, Datz C, Krawczak M, Wodarz N, Volzke H, Hampe J
 タイトル      Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
 雑誌        Hepatology 53:86-95 (2011)
 DOI:10.1002/hep.24017
 PMID:26482880 (PNPLA3, TM6SF2, MBOAT7)
 著者        Buch S, Stickel F, Trepo E, Way M, Herrmann A, Nischalke HD, Brosch M, Rosendahl J, Berg T, Ridinger M, Rietschel M, McQuillin A, Frank J, Kiefer F, Schreiber S, Lieb W, Soyka M, Semmo N, Aigner E, Datz C, Schmelz R, Bruckner S, Zeissig S, Stephan AM, Wodarz N, Deviere J, Clumeck N, Sarrazin C, Lammert F, Gustot T, Deltenre P, Volzke H, Lerch MM, Mayerle J, Eyer F, Schafmayer C, Cichon S, Nothen MM, Nothnagel M, Ellinghaus D, Huse K, Franke A, Zopf S, Hellerbrand C, Moreno C, Franchimont D, Morgan MY, Hampe J
 タイトル      A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
 雑誌        Nat Genet 47:1443-8 (2015)
 DOI:10.1038/ng.3417","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02516"">H02516</a>",アルコール性肝疾患,"Alcoholic liver disease (ALD) refers to the damages to the liver and its functions due to alcohol overconsumption. It ranges from simple steatosis to steatohepatitis, cirrhosis, and even hepatocellular carcinoma. Alcohol consumption promotes liver inflammation by increasing the translocation of gut-derived endotoxins to the portal circulation and activating Kupffer cells to produce TNF-alpha through the LPS/Toll like receptor (TLR) 4 pathways. TNF-alpha induces hepatocellular damage. When alcohol intake is chronic and heavy, steatosis is caused via generation of acetaldehyde, reactive oxygen species (ROS) and ER stress. ROS inhibits key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated receptor alpha (PPAR-alpha), which are responsible for fatty acid oxidation and export via ACC and CPT-1. The blockade of AMPK also leads to overexpression of SREBP-1, resulting in an increase of de novo lipogenesis. Moreover, excessive intracellular ROS production induced by ethanol and its metabolite has a critical role in ethanol-induced apoptosis, which may be the critical process in the exacerbation of ALD. It is inferred that the apoptotic signal derived from ROS that was produced by NOX, is mainly transduced through the JNK and p38 MAPK pathways.",,"PNPLA3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80339"">80339</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13534"">K13534</a>]
 TM6SF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:53345"">53345</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25361"">K25361</a>]
 MBOAT7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79143"">79143</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13516"">K13516</a>]",,"Ethanol [CPD:<a href=""https://www.genome.jp/dbget-bin/www_bget?cpd_ja:C00469"">C00469</a>]",,,,"ICD-11: DB94
 ICD-10: K70
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008108"">D008108</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25782093"">25782093</a>
 著者        Louvet A, Mathurin P
 タイトル      Alcoholic liver disease: mechanisms of injury and targeted treatment.
 雑誌        Nat Rev Gastroenterol Hepatol 12:231-42 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrgastro.2015.35"">10.1038/nrgastro.2015.35</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24385684"">24385684</a>
 著者        Kawaratani H, Tsujimoto T, Douhara A, Takaya H, Moriya K, Namisaki T, Noguchi R, Yoshiji H, Fujimoto M, Fukui H
 タイトル      The effect of inflammatory cytokines in alcoholic liver disease.
 雑誌        Mediators Inflamm 2013:495156 (2013)
 DOI:<a href=""https://doi.org/10.1155/2013/495156"">10.1155/2013/495156</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28134813"">28134813</a>
 著者        Magdaleno F, Blajszczak CC, Nieto N
 タイトル      Key Events Participating in the Pathogenesis of Alcoholic Liver Disease.
 雑誌        Biomolecules 7:E9 (2017)
 DOI:<a href=""https://doi.org/10.3390/biom7010009"">10.3390/biom7010009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21252049"">21252049</a>
 著者        Gao B, Seki E, Brenner DA, Friedman S, Cohen JI, Nagy L, Szabo G, Zakhari S
 タイトル      Innate immunity in alcoholic liver disease.
 雑誌        Am J Physiol Gastrointest Liver Physiol 300:G516-25 (2011)
 DOI:<a href=""https://doi.org/10.1152/ajpgi.00537.2010"">10.1152/ajpgi.00537.2010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18709650"">18709650</a>
 著者        Rogers CQ, Ajmo JM, You M
 タイトル      Adiponectin and alcoholic fatty liver disease.
 雑誌        IUBMB Life 60:790-7 (2008)
 DOI:<a href=""https://doi.org/10.1002/iub.124"">10.1002/iub.124</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26755857"">26755857</a>
 著者        Kim MS, Ong M, Qu X
 タイトル      Optimal management for alcoholic liver disease: Conventional medications, natural therapy or combination?
 雑誌        World J Gastroenterol 22:8-23 (2016)
 DOI:<a href=""https://doi.org/10.3748/wjg.v22.i1.8"">10.3748/wjg.v22.i1.8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30115921"">30115921</a>
 著者        Seitz HK, Bataller R, Cortez-Pinto H, Gao B, Gual A, Lackner C, Mathurin P, Mueller S, Szabo G, Tsukamoto H
 タイトル      Alcoholic liver disease.
 雑誌        Nat Rev Dis Primers 4:16 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41572-018-0014-7"">10.1038/s41572-018-0014-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25964223"">25964223</a>
 著者        Salameh H, Raff E, Erwin A, Seth D, Nischalke HD, Falleti E, Burza MA, Leathert J, Romeo S, Molinaro A, Corradini SG, Toniutto P, Spengler U, Daly A, Day CP, Kuo YF, Singal AK
 タイトル      PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease.
 雑誌        Am J Gastroenterol 110:846-56 (2015)
 DOI:<a href=""https://doi.org/10.1038/ajg.2015.137"">10.1038/ajg.2015.137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21254164"">21254164</a> (PNPLA3)
 著者        Stickel F, Buch S, Lau K, Meyer zu Schwabedissen H, Berg T, Ridinger M, Rietschel M, Schafmayer C, Braun F, Hinrichsen H, Gunther R, Arlt A, Seeger M, Muller S, Seitz HK, Soyka M, Lerch M, Lammert F, Sarrazin C, Kubitz R, Haussinger D, Hellerbrand C, Broring D, Schreiber S, Kiefer F, Spanagel R, Mann K, Datz C, Krawczak M, Wodarz N, Volzke H, Hampe J
 タイトル      Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
 雑誌        Hepatology 53:86-95 (2011)
 DOI:<a href=""https://doi.org/10.1002/hep.24017"">10.1002/hep.24017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26482880"">26482880</a> (PNPLA3, <a href=""https://pubmed.ncbi.nlm.nih.gov/TM6SF2,"">TM6SF2,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/MBOAT7)"">MBOAT7)</a>
 著者        Buch S, Stickel F, Trepo E, Way M, Herrmann A, Nischalke HD, Brosch M, Rosendahl J, Berg T, Ridinger M, Rietschel M, McQuillin A, Frank J, Kiefer F, Schreiber S, Lieb W, Soyka M, Semmo N, Aigner E, Datz C, Schmelz R, Bruckner S, Zeissig S, Stephan AM, Wodarz N, Deviere J, Clumeck N, Sarrazin C, Lammert F, Gustot T, Deltenre P, Volzke H, Lerch MM, Mayerle J, Eyer F, Schafmayer C, Cichon S, Nothen MM, Nothnagel M, Ellinghaus D, Huse K, Franke A, Zopf S, Hellerbrand C, Moreno C, Franchimont D, Morgan MY, Hampe J
 タイトル      A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
 雑誌        Nat Genet 47:1443-8 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3417"">10.1038/ng.3417</a>"
H02517,Olmsted 症候群,,,"Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.",先天奇形,,"(OLMS1) TRPV3 [HSA:162514] [KO:K04972]
 (OLMS2) PERP [HSA:64065] [KO:K10136]
 (OLMSX) MBTPS2 [HSA:51360] [KO:K07765]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 OMIM: 614594 619208 300918","PMID:22405088
 著者        Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y
 タイトル      Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
 雑誌        Am J Hum Genet 90:558-64 (2012)
 DOI:10.1016/j.ajhg.2012.02.006
 PMID:30321533
 著者        Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
 タイトル      Mutations in PERP Cause Dominant and Recessive Keratoderma.
 雑誌        J Invest Dermatol 139:380-390 (2019)
 DOI:10.1016/j.jid.2018.08.026
 PMID:22931912
 著者        Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP
 タイトル      A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
 雑誌        J Invest Dermatol 133:571-3 (2013)
 DOI:10.1038/jid.2012.289","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02517"">H02517</a>",Olmsted 症候群,"Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.",,"(OLMS1) TRPV3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:162514"">162514</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04972"">K04972</a>]
 (OLMS2) PERP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64065"">64065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10136"">K10136</a>]
 (OLMSX) MBTPS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51360"">51360</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07765"">K07765</a>]",,,,,,"ICD-11: EC20.30
 ICD-10: Q82.8
 OMIM: <a href=""https://www.omim.org/entry/614594"">614594</a> <a href=""https://www.omim.org/entry/619208"">619208</a> <a href=""https://www.omim.org/entry/300918"">300918</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22405088"">22405088</a>
 著者        Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y
 タイトル      Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
 雑誌        Am J Hum Genet 90:558-64 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.02.006"">10.1016/j.ajhg.2012.02.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30321533"">30321533</a>
 著者        Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
 タイトル      Mutations in PERP Cause Dominant and Recessive Keratoderma.
 雑誌        J Invest Dermatol 139:380-390 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jid.2018.08.026"">10.1016/j.jid.2018.08.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22931912"">22931912</a>
 著者        Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP
 タイトル      A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
 雑誌        J Invest Dermatol 133:571-3 (2013)
 DOI:<a href=""https://doi.org/10.1038/jid.2012.289"">10.1038/jid.2012.289</a>"
H02518,乳酸アシドーシスと脳奇形を伴う重症新生児脳症,,,"Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. Mutations in the lipoyl transferase 2 gene (LIPT2) have been identified in patients with NELABA. LIPT2 is essential in the maturation of lipoic acid which acts as a cofactor for mitochondrial enzymes.",先天性代謝異常症,,LIPT2 [HSA:387787] [KO:K23735],,,,,,"ICD-11: 5C53.Y
 ICD-10: E88.8
 OMIM: 617668","PMID:28757203
 著者        Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P
 タイトル      Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
 雑誌        Am J Hum Genet 101:283-290 (2017)
 DOI:10.1016/j.ajhg.2017.07.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02518"">H02518</a>",乳酸アシドーシスと脳奇形を伴う重症新生児脳症,"Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. Mutations in the lipoyl transferase 2 gene (LIPT2) have been identified in patients with NELABA. LIPT2 is essential in the maturation of lipoic acid which acts as a cofactor for mitochondrial enzymes.",,"LIPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:387787"">387787</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23735"">K23735</a>]",,,,,,"ICD-11: 5C53.Y
 ICD-10: E88.8
 OMIM: <a href=""https://www.omim.org/entry/617668"">617668</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28757203"">28757203</a>
 著者        Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P
 タイトル      Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
 雑誌        Am J Hum Genet 101:283-290 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2017.07.001"">10.1016/j.ajhg.2017.07.001</a>"
H02519,小脳低形成と大脳皮質形成異常を伴う巨大脳梁症候群,,,"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein.",先天奇形,,MAST1 [HSA:22983] [KO:K08789],,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 OMIM: 618273","PMID:30449657
 著者        Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA
 タイトル      Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
 雑誌        Neuron 100:1354-1368.e5 (2018)
 DOI:10.1016/j.neuron.2018.10.044","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02519"">H02519</a>",小脳低形成と大脳皮質形成異常を伴う巨大脳梁症候群,"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein.",,"MAST1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22983"">22983</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08789"">K08789</a>]",,,,,,"ICD-11: LD20.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618273"">618273</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30449657"">30449657</a>
 著者        Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA
 タイトル      Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
 雑誌        Neuron 100:1354-1368.e5 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.neuron.2018.10.044"">10.1016/j.neuron.2018.10.044</a>"
H02520,ホスホエノールピルビン酸カルボキシキナーゼ欠損症,,,"Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) and mitochondrial PCK (encoded by PCK2). Mutations in PCK1 have been detected in affected individuals.",先天性代謝異常症,,"(PCKDC) PCK1 [HSA:5105] [KO:K01596]
 (PCKDM) PCK2 [HSA:5106] [KO:K01596]",,,,,,"ICD-11: 5C53.0Y
 ICD-10: E74.4
 MeSH: C536654
 OMIM: 261680 261650","PMID:26971250
 著者        Santra S, Cameron JM, Shyr C, Zhang L, Drogemoller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD
 タイトル      Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
 雑誌        Mol Genet Metab 118:21-7 (2016)
 DOI:10.1016/j.ymgme.2016.03.001
 PMID:8394647
 著者        Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AH
 タイトル      Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.
 雑誌        Am J Hum Genet 53:663-9 (1993)
 PMID:23466304
 著者        Mendez-Lucas A, Duarte JA, Sunny NE, Satapati S, He T, Fu X, Bermudez J, Burgess SC, Perales JC
 タイトル      PEPCK-M expression in mouse liver potentiates, not replaces, PEPCK-C mediated gluconeogenesis.
 雑誌        J Hepatol 59:105-13 (2013)
 DOI:10.1016/j.jhep.2013.02.020","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02520"">H02520</a>",ホスホエノールピルビン酸カルボキシキナーゼ欠損症,"Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) and mitochondrial PCK (encoded by PCK2). Mutations in PCK1 have been detected in affected individuals.",,"(PCKDC) PCK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5105"">5105</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01596"">K01596</a>]
 (PCKDM) PCK2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5106"">5106</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01596"">K01596</a>]",,,,,,"ICD-11: 5C53.0Y
 ICD-10: E74.4
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C536654"">C536654</a>
 OMIM: <a href=""https://www.omim.org/entry/261680"">261680</a> <a href=""https://www.omim.org/entry/261650"">261650</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26971250"">26971250</a>
 著者        Santra S, Cameron JM, Shyr C, Zhang L, Drogemoller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD
 タイトル      Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
 雑誌        Mol Genet Metab 118:21-7 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2016.03.001"">10.1016/j.ymgme.2016.03.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8394647"">8394647</a>
 著者        Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AH
 タイトル      Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.
 雑誌        Am J Hum Genet 53:663-9 (1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23466304"">23466304</a>
 著者        Mendez-Lucas A, Duarte JA, Sunny NE, Satapati S, He T, Fu X, Bermudez J, Burgess SC, Perales JC
 タイトル      PEPCK-M expression in mouse liver potentiates, not replaces, PEPCK-C mediated gluconeogenesis.
 雑誌        J Hepatol 59:105-13 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.jhep.2013.02.020"">10.1016/j.jhep.2013.02.020</a>"
H02521,Diets-Jongmans 症候群,,,"Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation.",先天奇形,,KDM3B [HSA:51780] [KO:K15601],,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: 618846","PMID:30929739
 著者        Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ
 タイトル      De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
 雑誌        Am J Hum Genet 104:758-766 (2019)
 DOI:10.1016/j.ajhg.2019.02.023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02521"">H02521</a>",Diets-Jongmans 症候群,"Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation.",,"KDM3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51780"">51780</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15601"">K15601</a>]",,,,,,"ICD-11: 6A0Y
 ICD-10: F78.9
 OMIM: <a href=""https://www.omim.org/entry/618846"">618846</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30929739"">30929739</a>
 著者        Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ
 タイトル      De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
 雑誌        Am J Hum Genet 104:758-766 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.023"">10.1016/j.ajhg.2019.02.023</a>"
H02522,Imagawa-Matsumoto 症候群,,,Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED.,先天奇形,,SUZ12 [HSA:23512] [KO:K11463],,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: 618786","PMID:30019515
 著者        Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N
 タイトル      Novel SUZ12 mutations in Weaver-like syndrome.
 雑誌        Clin Genet 94:461-466 (2018)
 DOI:10.1111/cge.13415
 PMID:33194904
 著者        Manor J, Lalani SR
 タイトル      Overgrowth Syndromes-Evaluation, Diagnosis, and Management.
 雑誌        Front Pediatr 8:574857 (2020)
 DOI:10.3389/fped.2020.574857","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02522"">H02522</a>",Imagawa-Matsumoto 症候群,"Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01751]."">H01751].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Mutations"">Mutations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:SUZ12"">SUZ12</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:cause"">cause</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:this"">this</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disease."">disease.</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:SUZ12"">SUZ12</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:core"">core</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:component"">component</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:polycomb"">polycomb</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:repressive"">repressive</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:complex"">complex</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:2"">2</a> (PRC2) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:along"">along</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:with"">with</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EZH2"">EZH2</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:EED."">EED.</a>",,"SUZ12 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23512"">23512</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11463"">K11463</a>]",,,,,,"ICD-11: LD2C
 ICD-10: Q87.3
 OMIM: <a href=""https://www.omim.org/entry/618786"">618786</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30019515"">30019515</a>
 著者        Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N
 タイトル      Novel SUZ12 mutations in Weaver-like syndrome.
 雑誌        Clin Genet 94:461-466 (2018)
 DOI:<a href=""https://doi.org/10.1111/cge.13415"">10.1111/cge.13415</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33194904"">33194904</a>
 著者        Manor J, Lalani SR
 タイトル      Overgrowth Syndromes-Evaluation, Diagnosis, and Management.
 雑誌        Front Pediatr 8:574857 (2020)
 DOI:<a href=""https://doi.org/10.3389/fped.2020.574857"">10.3389/fped.2020.574857</a>"
H02523,尿生殖器および/または脳の奇形症候群,,,"Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental in the regulation of cell morphology and motility.",先天奇形,,PPP1R12A [HSA:4659] [KO:K06270],,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 OMIM: 618820","PMID:34499436
 著者        Alkhunaizi E, Chitayat D
 タイトル      PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
 雑誌        GeneReviews(1993)
 PMID:31883643
 著者        Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
 タイトル      Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
 雑誌        Am J Hum Genet 106:121-128 (2020)
 DOI:10.1016/j.ajhg.2019.12.004","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02523"">H02523</a>",尿生殖器および/または脳の奇形症候群,"Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental in the regulation of cell morphology and motility.",,"PPP1R12A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4659"">4659</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06270"">K06270</a>]",,,,,,"ICD-11: LD2Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/618820"">618820</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34499436"">34499436</a>
 著者        Alkhunaizi E, Chitayat D
 タイトル      PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
 雑誌        GeneReviews(1993)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31883643"">31883643</a>
 著者        Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
 タイトル      Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
 雑誌        Am J Hum Genet 106:121-128 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.12.004"">10.1016/j.ajhg.2019.12.004</a>"
H02524,運動失調・汎血球減少症候群,,,"Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. It has been reported that ATXPC is caused by missense mutations in SAMD9L.",血液疾患,,SAMD9L [HSA:219285] [KO:K23949],,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 OMIM: 159550","PMID:27259050
 著者        Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH
 タイトル      Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
 雑誌        Am J Hum Genet 98:1146-1158 (2016)
 DOI:10.1016/j.ajhg.2016.04.009
 PMID:28202457
 著者        Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Mottonen M, Niinimaki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgard U, Cammenga J, Bryceson YT
 タイトル      Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
 雑誌        Blood 129:2266-2279 (2017)
 DOI:10.1182/blood-2016-10-743302
 PMID:28570036
 著者        Raskind WH, Chen DH, Bird T
 タイトル      SAMD9L Ataxia-Pancytopenia Syndrome
 雑誌        GeneReviews(1993)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02524"">H02524</a>",運動失調・汎血球減少症候群,"Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. It has been reported that ATXPC is caused by missense mutations in SAMD9L.",,"SAMD9L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:219285"">219285</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23949"">K23949</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.0
 OMIM: <a href=""https://www.omim.org/entry/159550"">159550</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259050"">27259050</a>
 著者        Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH
 タイトル      Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
 雑誌        Am J Hum Genet 98:1146-1158 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.04.009"">10.1016/j.ajhg.2016.04.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28202457"">28202457</a>
 著者        Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Mottonen M, Niinimaki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgard U, Cammenga J, Bryceson YT
 タイトル      Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
 雑誌        Blood 129:2266-2279 (2017)
 DOI:<a href=""https://doi.org/10.1182/blood-2016-10-743302"">10.1182/blood-2016-10-743302</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28570036"">28570036</a>
 著者        Raskind WH, Chen DH, Bird T
 タイトル      SAMD9L Ataxia-Pancytopenia Syndrome
 雑誌        GeneReviews(1993)"
H02525,"自然免疫の障害
 下位グループ    WHIM 症候群 [DS:H00097]
 慢性肉芽腫症 [DS:H00098]
 白血球粘着不全症 [DS:H00099]
 古典的補体経路の構成要素の障害 [DS:H00102]
 後期補体経路の障害 [DS:H00103]
 副補体経路の構成要素の障害 [DS:H00104]
 マンノース結合レクチン経路の構成要素の障害 [DS:H00105]
 補体制御タンパクの障害 [DS:H00106]
 他の食細胞の障害 [DS:H00101]
 IFN-gamma/IL-12 軸 [DS:H00089]
 Toll様受容体シグナル伝達系の障害 [DS:H00096]
 NK細胞障害 [DS:H00090]
 上位グループ    原発性免疫不全症 [DS:H01725]",,,Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune response and may worsen outcomes of infection.,免疫系疾患,,"(IMD44) STAT2 [HSA:6773] [KO:K11221]
 (IMD45) IFNAR2 [HSA:3455] [KO:K05131]
 (IMD57) RIPK1 [HSA:8737] [KO:K02861]
 (IMD63) IL2RB [HSA:3560] [KO:K05069]
 (IMD65) IRF9 [HSA:10379] [KO:K04693]
 (IMD77) MPEG1 [HSA:219972]
 (IMD80) MCM10 [HSA:55388] [KO:K10736]",,,,,,"ICD-11: 4A00
 MeSH: D000081207
 OMIM: 616636 616669 618108 618495 618648 619223 619313","PMID:22165913
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:10.1186/1710-1492-7-S1-S11
 PMID:23391734 (IMD44)
 著者        Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE
 タイトル      STAT2 deficiency and susceptibility to viral illness in humans.
 雑誌        Proc Natl Acad Sci U S A 110:3053-8 (2013)
 DOI:10.1073/pnas.1220098110
 PMID:26424569 (IMD45)
 著者        Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S
 タイトル      Human IFNAR2 deficiency: Lessons for antiviral immunity.
 雑誌        Sci Transl Med 7:307ra154 (2015)
 DOI:10.1126/scitranslmed.aac4227
 PMID:30026316 (IMD57)
 著者        Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S
 タイトル      Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
 雑誌        Science 361:810-813 (2018)
 DOI:10.1126/science.aar2641
 PMID:31040184 (IMD63)
 著者        Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY
 タイトル      A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
 雑誌        J Exp Med 216:1255-1267 (2019)
 DOI:10.1084/jem.20182015
 PMID:30826365 (IMD65)
 著者        Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R
 タイトル      Impaired control of multiple viral infections in a family with complete IRF9 deficiency.
 雑誌        J Allergy Clin Immunol 144:309-312.e10 (2019)
 DOI:10.1016/j.jaci.2019.02.019
 PMID:33224153 (IMD77)
 著者        Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ
 タイトル      MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-gamma Therapy.
 雑誌        Front Immunol 11:601584 (2020)
 DOI:10.3389/fimmu.2020.601584
 PMID:32865517 (IMD80)
 著者        Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS
 タイトル      Human NK cell deficiency as a result of biallelic mutations in MCM10.
 雑誌        J Clin Invest 130:5272-5286 (2020)
 DOI:10.1172/JCI134966","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02525"">H02525</a>","自然免疫の障害
 下位グループ    WHIM 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00097"">H00097</a>]
 慢性肉芽腫症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00098"">H00098</a>]
 白血球粘着不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00099"">H00099</a>]
 古典的補体経路の構成要素の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00102"">H00102</a>]
 後期補体経路の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00103"">H00103</a>]
 副補体経路の構成要素の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00104"">H00104</a>]
 マンノース結合レクチン経路の構成要素の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00105"">H00105</a>]
 補体制御タンパクの障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00106"">H00106</a>]
 他の食細胞の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00101"">H00101</a>]
 IFN-gamma/IL-12 軸 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00089"">H00089</a>]
 Toll様受容体シグナル伝達系の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00096"">H00096</a>]
 NK細胞障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00090"">H00090</a>]
 上位グループ    原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]",Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune response and may worsen outcomes of infection.,,"(IMD44) STAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6773"">6773</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11221"">K11221</a>]
 (IMD45) IFNAR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3455"">3455</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05131"">K05131</a>]
 (IMD57) RIPK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8737"">8737</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02861"">K02861</a>]
 (IMD63) IL2RB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3560"">3560</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05069"">K05069</a>]
 (IMD65) IRF9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10379"">10379</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04693"">K04693</a>]
 (IMD77) MPEG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:219972"">219972</a>]
 (IMD80) MCM10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55388"">55388</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10736"">K10736</a>]",,,,,,"ICD-11: 4A00
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000081207"">D000081207</a>
 OMIM: <a href=""https://www.omim.org/entry/616636"">616636</a> <a href=""https://www.omim.org/entry/616669"">616669</a> <a href=""https://www.omim.org/entry/618108"">618108</a> <a href=""https://www.omim.org/entry/618495"">618495</a> <a href=""https://www.omim.org/entry/618648"">618648</a> <a href=""https://www.omim.org/entry/619223"">619223</a> <a href=""https://www.omim.org/entry/619313"">619313</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22165913"">22165913</a>
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:<a href=""https://doi.org/10.1186/1710-1492-7-S1-S11"">10.1186/1710-1492-7-S1-S11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23391734"">23391734</a> (IMD44)
 著者        Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE
 タイトル      STAT2 deficiency and susceptibility to viral illness in humans.
 雑誌        Proc Natl Acad Sci U S A 110:3053-8 (2013)
 DOI:<a href=""https://doi.org/10.1073/pnas.1220098110"">10.1073/pnas.1220098110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26424569"">26424569</a> (IMD45)
 著者        Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S
 タイトル      Human IFNAR2 deficiency: Lessons for antiviral immunity.
 雑誌        Sci Transl Med 7:307ra154 (2015)
 DOI:<a href=""https://doi.org/10.1126/scitranslmed.aac4227"">10.1126/scitranslmed.aac4227</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30026316"">30026316</a> (IMD57)
 著者        Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S
 タイトル      Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
 雑誌        Science 361:810-813 (2018)
 DOI:<a href=""https://doi.org/10.1126/science.aar2641"">10.1126/science.aar2641</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31040184"">31040184</a> (IMD63)
 著者        Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY
 タイトル      A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
 雑誌        J Exp Med 216:1255-1267 (2019)
 DOI:<a href=""https://doi.org/10.1084/jem.20182015"">10.1084/jem.20182015</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30826365"">30826365</a> (IMD65)
 著者        Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R
 タイトル      Impaired control of multiple viral infections in a family with complete IRF9 deficiency.
 雑誌        J Allergy Clin Immunol 144:309-312.e10 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2019.02.019"">10.1016/j.jaci.2019.02.019</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33224153"">33224153</a> (IMD77)
 著者        Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ
 タイトル      MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-gamma Therapy.
 雑誌        Front Immunol 11:601584 (2020)
 DOI:<a href=""https://doi.org/10.3389/fimmu.2020.601584"">10.3389/fimmu.2020.601584</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32865517"">32865517</a> (IMD80)
 著者        Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS
 タイトル      Human NK cell deficiency as a result of biallelic mutations in MCM10.
 雑誌        J Clin Invest 130:5272-5286 (2020)
 DOI:<a href=""https://doi.org/10.1172/JCI134966"">10.1172/JCI134966</a>"
H02526,"獲得免疫の障害
 下位グループ    無ガンマグロブリン血症 [DS:H00085]
 高 IgM 症候群 [DS:H00086]
 分類不能型免疫不全症 [DS:H00088]
 T-B+ 重症複合免疫不全症 (SCIDs) [DS:H00091]
 T-B- 重症複合免疫不全症 (SCIDs) [DS:H00092]
 T+B+ 重症複合免疫不全症 (SCIDs) [DS:H01244]
 複合免疫不全症 [DS:H00093]
 活性化 PI3K-delta 症候群 [DS:H01387]
 他の体液性免疫不全症 [DS:H00087]
 自己免疫性リンパ増殖症候群 [DS:H00108]
 家族性血球貪食症候群 [DS:H00109]
 DNA修復障害に伴う免疫不全症 [DS:H00094]
 上位グループ    原発性免疫不全症 [DS:H01725]",,,"T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses. Since B-cell-mediated antibody production requires intact T-cell function, most T-cell defects lead to ""Combined immunodeficiency disorders"".",免疫系疾患,,"(IMD13) UNC119 [HSA:9094] [KO:K23539]
 (IMD46) TFRC [HSA:7037] [KO:K06503]
 (IMD50) MSN [HSA:4478] [KO:K05763]
 (IMD52) LAT [HSA:27040] [KO:K07362]
 (IMD53) RELB [HSA:5971] [KO:K09253]
 (IMD56) IL21R [HSA:50615] [KO:K05075]
 (IMD60) BACH2 [HSA:60468] [KO:K09042]
 (IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
 (IMD64) RASGRP1 [HSA:10125] [KO:K04350]
 (IMD66) MRTFA [HSA:57591] [KO:K22525]
 (IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
 (IMD72) NCKAP1L [HSA:3071] [KO:K05750]
 (IMD76) FCHO1 [HSA:23149] [KO:K20042]
 (IMD78) TPP2 [HSA:7174] [KO:K01280]
 (IMD79) CD4 [HSA:920] [KO:K06454]
 (IMD81) LCP2 [HSA:3937] [KO:K07361]
 (IMD82) SYK [HSA:6850] [KO:K05855]
 (IMD84) IKZF3 [HSA:22806] [KO:K09220]
 (IMD86) SPPL2A [HSA:84888] [KO:K09596]
 (IMD87) DEF6 [HSA:50619] [KO:K20072]",,,,,,"ICD-11: 4A01
 ICD-10: D80 D81
 MeSH: D000081207
 OMIM: 615518 616740 300988 617514 617585 615207 618394 618459 618534 618847 618969 618982 619164 619220 619238 619374 619381 619437 619549 619573","PMID:22165913
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:10.1186/1710-1492-7-S1-S11
 PMID:22184408 (IMD13)
 著者        Gorska MM, Alam R
 タイトル      A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
 雑誌        Blood 119:1399-406 (2012)
 DOI:10.1182/blood-2011-04-350686
 PMID:26642240 (IMD46)
 著者        Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS
 タイトル      A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
 雑誌        Nat Genet 48:74-8 (2016)
 DOI:10.1038/ng.3465
 PMID:27405666 (IMD50)
 著者        Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, Andre-Schmutz I
 タイトル      X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
 雑誌        J Allergy Clin Immunol 138:1681-1689.e8 (2016)
 DOI:10.1016/j.jaci.2016.04.032
 PMID:27242165 (IMD52)
 著者        Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P
 タイトル      Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.
 雑誌        J Exp Med 213:1185-99 (2016)
 DOI:10.1084/jem.20151110
 PMID:26385063 (IMD53)
 著者        Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM
 タイトル      The effects of RelB deficiency on lymphocyte development and function.
 雑誌        J Autoimmun 65:90-100 (2015)
 DOI:10.1016/j.jaut.2015.09.001
 PMID:28530713 (IMD60)
 著者        Afzali B, Gronholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ
 タイトル      BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
 雑誌        Nat Immunol 18:813-823 (2017)
 DOI:10.1038/ni.3753
 PMID:30521495 (IMD62)
 著者        Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S
 タイトル      Loss of ARHGEF1 causes a human primary antibody deficiency.
 雑誌        J Clin Invest 129:1047-1060 (2019)
 DOI:10.1172/JCI120572
 PMID:29155103 (IMD64)
 著者        Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan KW, Pui-Wah Lee P, Tu W, Fischer A, Lau YL
 タイトル      RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.
 雑誌        J Allergy Clin Immunol 142:595-604.e16 (2018)
 DOI:10.1016/j.jaci.2017.10.026
 PMID:26224645 (IMD66)
 著者        Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO
 タイトル      Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
 雑誌        Blood 126:1527-35 (2015)
 DOI:10.1182/blood-2014-12-611012
 PMID:32499645 (IMD70)
 著者        Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
 タイトル      Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
 雑誌        Nature 583:90-95 (2020)
 DOI:10.1038/s41586-020-2265-1
 PMID:32647003 (IMD72)
 著者        Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ
 タイトル      HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
 雑誌        Science 369:202-207 (2020)
 DOI:10.1126/science.aay5663
 PMID:32098969 (IMD76)
 著者        Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E, Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C
 タイトル      Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
 雑誌        Nat Commun 11:1031 (2020)
 DOI:10.1038/s41467-020-14809-9
 PMID:25414442 (IMD78)
 著者        Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brummendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S
 タイトル      Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
 雑誌        Blood 125:753-61 (2015)
 DOI:10.1182/blood-2014-08-593202
 PMID:33471124 (IMD79)
 著者        Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I
 タイトル      Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
 雑誌        J Infect Dis 223:645-654 (2021)
 DOI:10.1093/infdis/jiab025
 PMID:33231617 (IMD81)
 著者        Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R
 タイトル      Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
 雑誌        J Exp Med 218:e20201062 (2021)
 DOI:10.1084/jem.20201062
 PMID:33782605 (IMD82)
 著者        Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM
 タイトル      Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
 雑誌        Nat Genet 53:500-510 (2021)
 DOI:10.1038/s41588-021-00803-4
 PMID:34155405 (IMD84)
 著者        Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, Imai K, Takagi M, Kanegane H, Takeuchi M, Shimojo N, Tsumura M, Padhi AK, Zhang KYJ, Boisson B, Casanova JL, Ohara O, Rosenzweig SD, Taniuchi I, Morio T
 タイトル      A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
 雑誌        Nat Immunol 22:893-903 (2021)
 DOI:10.1038/s41590-021-00951-z
 PMID:30127434 (IMD86)
 著者        Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schroder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL
 タイトル      Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
 雑誌        Nat Immunol 19:973-985 (2018)
 DOI:10.1038/s41590-018-0178-z
 PMID:32562707 (IMD87)
 著者        Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S
 タイトル      DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
 雑誌        J Allergy Clin Immunol 147:740-743.e9 (2021)
 DOI:10.1016/j.jaci.2020.05.052","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>","獲得免疫の障害
 下位グループ    無ガンマグロブリン血症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00085"">H00085</a>]
 高 IgM 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00086"">H00086</a>]
 分類不能型免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00088"">H00088</a>]
 T-B+ 重症複合免疫不全症 (SCIDs) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00091"">H00091</a>]
 T-B- 重症複合免疫不全症 (SCIDs) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00092"">H00092</a>]
 T+B+ 重症複合免疫不全症 (SCIDs) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01244"">H01244</a>]
 複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00093"">H00093</a>]
 活性化 PI3K-delta 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01387"">H01387</a>]
 他の体液性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00087"">H00087</a>]
 自己免疫性リンパ増殖症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00108"">H00108</a>]
 家族性血球貪食症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00109"">H00109</a>]
 DNA修復障害に伴う免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00094"">H00094</a>]
 上位グループ    原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses. Since B-cell-mediated antibody production requires intact T-cell function, most T-cell defects lead to ""Combined immunodeficiency disorders"".",,"(IMD13) UNC119 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9094"">9094</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23539"">K23539</a>]
 (IMD46) TFRC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7037"">7037</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06503"">K06503</a>]
 (IMD50) MSN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4478"">4478</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05763"">K05763</a>]
 (IMD52) LAT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27040"">27040</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07362"">K07362</a>]
 (IMD53) RELB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5971"">5971</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09253"">K09253</a>]
 (IMD56) IL21R [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50615"">50615</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05075"">K05075</a>]
 (IMD60) BACH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60468"">60468</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09042"">K09042</a>]
 (IMD62) ARHGEF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9138"">9138</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12330"">K12330</a>]
 (IMD64) RASGRP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10125"">10125</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04350"">K04350</a>]
 (IMD66) MRTFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57591"">57591</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22525"">K22525</a>]
 (IMD70) IVNS1ABP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10625"">10625</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15046"">K15046</a>]
 (IMD72) NCKAP1L [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3071"">3071</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05750"">K05750</a>]
 (IMD76) FCHO1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23149"">23149</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20042"">K20042</a>]
 (IMD78) TPP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7174"">7174</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01280"">K01280</a>]
 (IMD79) CD4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:920"">920</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06454"">K06454</a>]
 (IMD81) LCP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3937"">3937</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07361"">K07361</a>]
 (IMD82) SYK [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6850"">6850</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05855"">K05855</a>]
 (IMD84) IKZF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22806"">22806</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09220"">K09220</a>]
 (IMD86) SPPL2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:84888"">84888</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09596"">K09596</a>]
 (IMD87) DEF6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:50619"">50619</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20072"">K20072</a>]",,,,,,"ICD-11: 4A01
 ICD-10: D80 D81
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000081207"">D000081207</a>
 OMIM: <a href=""https://www.omim.org/entry/615518"">615518</a> <a href=""https://www.omim.org/entry/616740"">616740</a> <a href=""https://www.omim.org/entry/300988"">300988</a> <a href=""https://www.omim.org/entry/617514"">617514</a> <a href=""https://www.omim.org/entry/617585"">617585</a> <a href=""https://www.omim.org/entry/615207"">615207</a> <a href=""https://www.omim.org/entry/618394"">618394</a> <a href=""https://www.omim.org/entry/618459"">618459</a> <a href=""https://www.omim.org/entry/618534"">618534</a> <a href=""https://www.omim.org/entry/618847"">618847</a> <a href=""https://www.omim.org/entry/618969"">618969</a> <a href=""https://www.omim.org/entry/618982"">618982</a> <a href=""https://www.omim.org/entry/619164"">619164</a> <a href=""https://www.omim.org/entry/619220"">619220</a> <a href=""https://www.omim.org/entry/619238"">619238</a> <a href=""https://www.omim.org/entry/619374"">619374</a> <a href=""https://www.omim.org/entry/619381"">619381</a> <a href=""https://www.omim.org/entry/619437"">619437</a> <a href=""https://www.omim.org/entry/619549"">619549</a> <a href=""https://www.omim.org/entry/619573"">619573</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22165913"">22165913</a>
 著者        McCusker C, Warrington R
 タイトル      Primary immunodeficiency.
 雑誌        Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
 DOI:<a href=""https://doi.org/10.1186/1710-1492-7-S1-S11"">10.1186/1710-1492-7-S1-S11</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22184408"">22184408</a> (IMD13)
 著者        Gorska MM, Alam R
 タイトル      A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
 雑誌        Blood 119:1399-406 (2012)
 DOI:<a href=""https://doi.org/10.1182/blood-2011-04-350686"">10.1182/blood-2011-04-350686</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26642240"">26642240</a> (IMD46)
 著者        Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS
 タイトル      A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
 雑誌        Nat Genet 48:74-8 (2016)
 DOI:<a href=""https://doi.org/10.1038/ng.3465"">10.1038/ng.3465</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27405666"">27405666</a> (IMD50)
 著者        Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, Andre-Schmutz I
 タイトル      X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
 雑誌        J Allergy Clin Immunol 138:1681-1689.e8 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2016.04.032"">10.1016/j.jaci.2016.04.032</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27242165"">27242165</a> (IMD52)
 著者        Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P
 タイトル      Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.
 雑誌        J Exp Med 213:1185-99 (2016)
 DOI:<a href=""https://doi.org/10.1084/jem.20151110"">10.1084/jem.20151110</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26385063"">26385063</a> (IMD53)
 著者        Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM
 タイトル      The effects of RelB deficiency on lymphocyte development and function.
 雑誌        J Autoimmun 65:90-100 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.jaut.2015.09.001"">10.1016/j.jaut.2015.09.001</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28530713"">28530713</a> (IMD60)
 著者        Afzali B, Gronholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ
 タイトル      BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
 雑誌        Nat Immunol 18:813-823 (2017)
 DOI:<a href=""https://doi.org/10.1038/ni.3753"">10.1038/ni.3753</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30521495"">30521495</a> (IMD62)
 著者        Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S
 タイトル      Loss of ARHGEF1 causes a human primary antibody deficiency.
 雑誌        J Clin Invest 129:1047-1060 (2019)
 DOI:<a href=""https://doi.org/10.1172/JCI120572"">10.1172/JCI120572</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29155103"">29155103</a> (IMD64)
 著者        Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan KW, Pui-Wah Lee P, Tu W, Fischer A, Lau YL
 タイトル      RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.
 雑誌        J Allergy Clin Immunol 142:595-604.e16 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2017.10.026"">10.1016/j.jaci.2017.10.026</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26224645"">26224645</a> (IMD66)
 著者        Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO
 タイトル      Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
 雑誌        Blood 126:1527-35 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-12-611012"">10.1182/blood-2014-12-611012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32499645"">32499645</a> (IMD70)
 著者        Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
 タイトル      Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
 雑誌        Nature 583:90-95 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41586-020-2265-1"">10.1038/s41586-020-2265-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32647003"">32647003</a> (IMD72)
 著者        Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ
 タイトル      HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
 雑誌        Science 369:202-207 (2020)
 DOI:<a href=""https://doi.org/10.1126/science.aay5663"">10.1126/science.aay5663</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32098969"">32098969</a> (IMD76)
 著者        Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E, Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C
 タイトル      Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
 雑誌        Nat Commun 11:1031 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-14809-9"">10.1038/s41467-020-14809-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25414442"">25414442</a> (IMD78)
 著者        Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brummendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S
 タイトル      Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
 雑誌        Blood 125:753-61 (2015)
 DOI:<a href=""https://doi.org/10.1182/blood-2014-08-593202"">10.1182/blood-2014-08-593202</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33471124"">33471124</a> (IMD79)
 著者        Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I
 タイトル      Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
 雑誌        J Infect Dis 223:645-654 (2021)
 DOI:<a href=""https://doi.org/10.1093/infdis/jiab025"">10.1093/infdis/jiab025</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33231617"">33231617</a> (IMD81)
 著者        Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R
 タイトル      Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
 雑誌        J Exp Med 218:e20201062 (2021)
 DOI:<a href=""https://doi.org/10.1084/jem.20201062"">10.1084/jem.20201062</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33782605"">33782605</a> (IMD82)
 著者        Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM
 タイトル      Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
 雑誌        Nat Genet 53:500-510 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41588-021-00803-4"">10.1038/s41588-021-00803-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34155405"">34155405</a> (IMD84)
 著者        Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, Imai K, Takagi M, Kanegane H, Takeuchi M, Shimojo N, Tsumura M, Padhi AK, Zhang KYJ, Boisson B, Casanova JL, Ohara O, Rosenzweig SD, Taniuchi I, Morio T
 タイトル      A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
 雑誌        Nat Immunol 22:893-903 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41590-021-00951-z"">10.1038/s41590-021-00951-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30127434"">30127434</a> (IMD86)
 著者        Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schroder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL
 タイトル      Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
 雑誌        Nat Immunol 19:973-985 (2018)
 DOI:<a href=""https://doi.org/10.1038/s41590-018-0178-z"">10.1038/s41590-018-0178-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32562707"">32562707</a> (IMD87)
 著者        Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S
 タイトル      DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
 雑誌        J Allergy Clin Immunol 147:740-743.e9 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2020.05.052"">10.1016/j.jaci.2020.05.052</a>"
H02527,FLAD1 欠損による脂質蓄積ミオパチー,,,"Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as glutaric acidemia type II [DS:H00178], is a mitochondrial fatty acid oxidation disorder characterized by combined respiratory-chain deficiency and a neuromuscular phenotype.",先天性代謝異常症,,FLAD1 [HSA:80308] [KO:K00953],,,,,,"ICD-11: 5C52.Y
 ICD-10: E71.3
 MeSH: C562935
 OMIM: 255100","PMID:27259049
 著者        Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H
 タイトル      Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
 雑誌        Am J Hum Genet 98:1130-1145 (2016)
 DOI:10.1016/j.ajhg.2016.04.006
 PMID:31392824
 著者        Muru K, Reinson K, Kunnapas K, Lillevali H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Ounap K
 タイトル      FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
 雑誌        Mol Genet Genomic Med 7:e915 (2019)
 DOI:10.1002/mgg3.915","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02527"">H02527</a>",FLAD1 欠損による脂質蓄積ミオパチー,"Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as glutaric acidemia type II [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00178],"">H00178],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:is"">is</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:mitochondrial"">mitochondrial</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:fatty"">fatty</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:acid"">acid</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:oxidation"">oxidation</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:disorder"">disorder</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:characterized"">characterized</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:combined"">combined</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respiratory-chain"">respiratory-chain</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:deficiency"">deficiency</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:a"">a</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:neuromuscular"">neuromuscular</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:phenotype."">phenotype.</a>",,"FLAD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80308"">80308</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00953"">K00953</a>]",,,,,,"ICD-11: 5C52.Y
 ICD-10: E71.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562935"">C562935</a>
 OMIM: <a href=""https://www.omim.org/entry/255100"">255100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27259049"">27259049</a>
 著者        Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H
 タイトル      Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
 雑誌        Am J Hum Genet 98:1130-1145 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2016.04.006"">10.1016/j.ajhg.2016.04.006</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31392824"">31392824</a>
 著者        Muru K, Reinson K, Kunnapas K, Lillevali H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Ounap K
 タイトル      FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
 雑誌        Mol Genet Genomic Med 7:e915 (2019)
 DOI:<a href=""https://doi.org/10.1002/mgg3.915"">10.1002/mgg3.915</a>"
H02528,Hao-Fountain 症候群,,,"Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. HAFOUS is caused by mutations in USP7 that encodes deubiquitinating enzyme.",先天奇形,,USP7 [HSA:7874] [KO:K11838],,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: 616863","PMID:30679821
 著者        Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Kury S, Bezieau S, Uguen K, Ferec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Pena L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP
 タイトル      Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
 雑誌        Genet Med 21:1797-1807 (2019)
 DOI:10.1038/s41436-019-0433-1
 PMID:26365382
 著者        Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR
 タイトル      USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
 雑誌        Mol Cell 59:956-69 (2015)
 DOI:10.1016/j.molcel.2015.07.033","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02528"">H02528</a>",Hao-Fountain 症候群,"Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. HAFOUS is caused by mutations in USP7 that encodes deubiquitinating enzyme.",,"USP7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7874"">7874</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11838"">K11838</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/616863"">616863</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30679821"">30679821</a>
 著者        Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Kury S, Bezieau S, Uguen K, Ferec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Pena L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP
 タイトル      Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
 雑誌        Genet Med 21:1797-1807 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-019-0433-1"">10.1038/s41436-019-0433-1</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26365382"">26365382</a>
 著者        Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR
 タイトル      USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
 雑誌        Mol Cell 59:956-69 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.molcel.2015.07.033"">10.1016/j.molcel.2015.07.033</a>"
H02529,"骨髄不全症候群
 下位グループ    AMED 症候群",,,Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.,血液疾患,,"(BMFS1) SRP72 [HSA:6731] [KO:K03108]
 (BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
 (BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
 (BMFS4) MYSM1 [HSA:114803] [KO:K11865]
 (BMFS5) TP53 [HSA:7157] [KO:K04451]
 (BMFS6) MDM4 [HSA:4194] [KO:K10127]
 (BMFS7) ADH5 [HSA:128] [KO:K00121]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.89
 MeSH: D000080984
 OMIM: 614675 615715 617052 618116 618165 618849 619151","PMID:22541560
 著者        Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I
 タイトル      Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
 雑誌        Am J Hum Genet 90:888-92 (2012)
 DOI:10.1016/j.ajhg.2012.03.020
 PMID:24507776
 著者        Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I
 タイトル      ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
 雑誌        Am J Hum Genet 94:246-56 (2014)
 DOI:10.1016/j.ajhg.2014.01.007
 PMID:28062395
 著者        Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y
 タイトル      Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
 雑誌        Blood 129:1557-1562 (2017)
 DOI:10.1182/blood-2016-08-735431
 PMID:24288411
 著者        Alsultan A, Shamseldin HE, Osman ME, Aljabri M, Alkuraya FS
 タイトル      MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.
 雑誌        Blood 122:3844-5 (2013)
 DOI:10.1182/blood-2013-09-527127
 PMID:23770245
 著者        Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F
 タイトル      Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
 雑誌        Cell Rep 3:2046-58 (2013)
 DOI:10.1016/j.celrep.2013.05.028
 PMID:32300648
 著者        Toufektchan E, Lejour V, Durand R, Giri N, Draskovic I, Bardot B, Laplante P, Jaber S, Alter BP, Londono-Vallejo JA, Savage SA, Toledo F
 タイトル      Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
 雑誌        Sci Adv 6:eaay3511 (2020)
 DOI:10.1126/sciadv.aay3511
 PMID:33355142
 著者        Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T
 タイトル      Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
 雑誌        Sci Adv 6:eabd7197 (2020)
 DOI:10.1126/sciadv.abd7197","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02529"">H02529</a>","骨髄不全症候群
 下位グループ    AMED 症候群",Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.,,"(BMFS1) SRP72 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6731"">6731</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03108"">K03108</a>]
 (BMFS2) ERCC6L2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:375748"">375748</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20098"">K20098</a>]
 (BMFS3) DNAJC21 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:134218"">134218</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09506"">K09506</a>]
 (BMFS4) MYSM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114803"">114803</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11865"">K11865</a>]
 (BMFS5) TP53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7157"">7157</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04451"">K04451</a>]
 (BMFS6) MDM4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4194"">4194</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10127"">K10127</a>]
 (BMFS7) ADH5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:128"">128</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00121"">K00121</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.89
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000080984"">D000080984</a>
 OMIM: <a href=""https://www.omim.org/entry/614675"">614675</a> <a href=""https://www.omim.org/entry/615715"">615715</a> <a href=""https://www.omim.org/entry/617052"">617052</a> <a href=""https://www.omim.org/entry/618116"">618116</a> <a href=""https://www.omim.org/entry/618165"">618165</a> <a href=""https://www.omim.org/entry/618849"">618849</a> <a href=""https://www.omim.org/entry/619151"">619151</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22541560"">22541560</a>
 著者        Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I
 タイトル      Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
 雑誌        Am J Hum Genet 90:888-92 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.03.020"">10.1016/j.ajhg.2012.03.020</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24507776"">24507776</a>
 著者        Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I
 タイトル      ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
 雑誌        Am J Hum Genet 94:246-56 (2014)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2014.01.007"">10.1016/j.ajhg.2014.01.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28062395"">28062395</a>
 著者        Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y
 タイトル      Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
 雑誌        Blood 129:1557-1562 (2017)
 DOI:<a href=""https://doi.org/10.1182/blood-2016-08-735431"">10.1182/blood-2016-08-735431</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24288411"">24288411</a>
 著者        Alsultan A, Shamseldin HE, Osman ME, Aljabri M, Alkuraya FS
 タイトル      MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.
 雑誌        Blood 122:3844-5 (2013)
 DOI:<a href=""https://doi.org/10.1182/blood-2013-09-527127"">10.1182/blood-2013-09-527127</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23770245"">23770245</a>
 著者        Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F
 タイトル      Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
 雑誌        Cell Rep 3:2046-58 (2013)
 DOI:<a href=""https://doi.org/10.1016/j.celrep.2013.05.028"">10.1016/j.celrep.2013.05.028</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32300648"">32300648</a>
 著者        Toufektchan E, Lejour V, Durand R, Giri N, Draskovic I, Bardot B, Laplante P, Jaber S, Alter BP, Londono-Vallejo JA, Savage SA, Toledo F
 タイトル      Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
 雑誌        Sci Adv 6:eaay3511 (2020)
 DOI:<a href=""https://doi.org/10.1126/sciadv.aay3511"">10.1126/sciadv.aay3511</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33355142"">33355142</a>
 著者        Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T
 タイトル      Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
 雑誌        Sci Adv 6:eabd7197 (2020)
 DOI:<a href=""https://doi.org/10.1126/sciadv.abd7197"">10.1126/sciadv.abd7197</a>"
H02530,"遺伝性前立腺癌
 上位グループ    前立腺癌 [DS:H00024]",,,"Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree relatives, prostate cancer diagnosed in three successive generations of the same lineage, or two first-degree relatives both diagnosed with early-onset disease. Familial cancer loci have been found, but the genes that cause familial prostate cancer remain largely elusive.",がん,,"(HPC1) RNASEL [HSA:6041] [KO:K01165]
 (HPC2) ELAC2 [HSA:60528] [KO:K00784]
 (HPC9) HOXB13 [HSA:10481] [KO:K09298]
 (HPC12) EHBP1 [HSA:23301] [KO:K25572]
 (HPC13) MSMB [HSA:4477] [KO:K25684]",,,,,,"ICD-11: 2C82
 ICD-10: C61
 MeSH: C537243
 OMIM: 601518 614731 610997 611868 611928","PMID:15534086
 著者        Wiklund F, Jonsson BA, Brookes AJ, Stromqvist L, Adolfsson J, Emanuelsson M, Adami HO, Augustsson-Balter K, Gronberg H
 タイトル      Genetic analysis of the RNASEL gene in hereditary, familial, and sporadic prostate cancer.
 雑誌        Clin Cancer Res 10:7150-6 (2004)
 DOI:10.1158/1078-0432.CCR-04-0982
 PMID:10986046
 著者        Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ, Malkowicz SB
 タイトル      Association of HPC2/ELAC2 genotypes and prostate cancer.
 雑誌        Am J Hum Genet 67:1014-9 (2000)
 DOI:10.1086/303096
 PMID:22236224
 著者        Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA
 タイトル      Germline mutations in HOXB13 and prostate-cancer risk.
 雑誌        N Engl J Med 366:141-9 (2012)
 DOI:10.1056/NEJMoa1110000
 PMID:26185455
 著者        Ao X, Liu Y, Bai XY, Qu X, Xu Z, Hu G, Chen M, Wu H
 タイトル      Association between EHBP1 rs721048(A>G) polymorphism and prostate cancer susceptibility: a meta-analysis of 17 studies involving 150,678 subjects.
 雑誌        Onco Targets Ther 8:1671-80 (2015)
 DOI:10.2147/OTT.S84034
 PMID:19383797
 著者        Lou H, Yeager M, Li H, Bosquet JG, Hayes RB, Orr N, Yu K, Hutchinson A, Jacobs KB, Kraft P, Wacholder S, Chatterjee N, Feigelson HS, Thun MJ, Diver WR, Albanes D, Virtamo J, Weinstein S, Ma J, Gaziano JM, Stampfer M, Schumacher FR, Giovannucci E, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Crawford ED, Anderson SK, Tucker M, Hoover RN, Fraumeni JF Jr, Thomas G, Hunter DJ, Dean M, Chanock SJ
 タイトル      Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility.
 雑誌        Proc Natl Acad Sci U S A 106:7933-8 (2009)
 DOI:10.1073/pnas.0902104106
 PMID:27899188
 著者        Giri VN, Beebe-Dimmer JL
 タイトル      Familial prostate cancer.
 雑誌        Semin Oncol 43:560-565 (2016)
 DOI:10.1053/j.seminoncol.2016.08.001","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02530"">H02530</a>","遺伝性前立腺癌
 上位グループ    前立腺癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00024"">H00024</a>]","Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree relatives, prostate cancer diagnosed in three successive generations of the same lineage, or two first-degree relatives both diagnosed with early-onset disease. Familial cancer loci have been found, but the genes that cause familial prostate cancer remain largely elusive.",,"(HPC1) RNASEL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6041"">6041</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01165"">K01165</a>]
 (HPC2) ELAC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:60528"">60528</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00784"">K00784</a>]
 (HPC9) HOXB13 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10481"">10481</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09298"">K09298</a>]
 (HPC12) EHBP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23301"">23301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25572"">K25572</a>]
 (HPC13) MSMB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4477"">4477</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25684"">K25684</a>]",,,,,,"ICD-11: 2C82
 ICD-10: C61
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537243"">C537243</a>
 OMIM: <a href=""https://www.omim.org/entry/601518"">601518</a> <a href=""https://www.omim.org/entry/614731"">614731</a> <a href=""https://www.omim.org/entry/610997"">610997</a> <a href=""https://www.omim.org/entry/611868"">611868</a> <a href=""https://www.omim.org/entry/611928"">611928</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15534086"">15534086</a>
 著者        Wiklund F, Jonsson BA, Brookes AJ, Stromqvist L, Adolfsson J, Emanuelsson M, Adami HO, Augustsson-Balter K, Gronberg H
 タイトル      Genetic analysis of the RNASEL gene in hereditary, familial, and sporadic prostate cancer.
 雑誌        Clin Cancer Res 10:7150-6 (2004)
 DOI:<a href=""https://doi.org/10.1158/1078-0432.CCR-04-0982"">10.1158/1078-0432.CCR-04-0982</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10986046"">10986046</a>
 著者        Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ, Malkowicz SB
 タイトル      Association of HPC2/ELAC2 genotypes and prostate cancer.
 雑誌        Am J Hum Genet 67:1014-9 (2000)
 DOI:<a href=""https://doi.org/10.1086/303096"">10.1086/303096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22236224"">22236224</a>
 著者        Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA
 タイトル      Germline mutations in HOXB13 and prostate-cancer risk.
 雑誌        N Engl J Med 366:141-9 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMoa1110000"">10.1056/NEJMoa1110000</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26185455"">26185455</a>
 著者        Ao X, Liu Y, Bai XY, Qu X, Xu Z, Hu G, Chen M, Wu H
 タイトル      Association between EHBP1 rs721048(A>G) polymorphism and prostate cancer susceptibility: a meta-analysis of 17 studies involving 150,678 subjects.
 雑誌        Onco Targets Ther 8:1671-80 (2015)
 DOI:<a href=""https://doi.org/10.2147/OTT.S84034"">10.2147/OTT.S84034</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19383797"">19383797</a>
 著者        Lou H, Yeager M, Li H, Bosquet JG, Hayes RB, Orr N, Yu K, Hutchinson A, Jacobs KB, Kraft P, Wacholder S, Chatterjee N, Feigelson HS, Thun MJ, Diver WR, Albanes D, Virtamo J, Weinstein S, Ma J, Gaziano JM, Stampfer M, Schumacher FR, Giovannucci E, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Crawford ED, Anderson SK, Tucker M, Hoover RN, Fraumeni JF Jr, Thomas G, Hunter DJ, Dean M, Chanock SJ
 タイトル      Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility.
 雑誌        Proc Natl Acad Sci U S A 106:7933-8 (2009)
 DOI:<a href=""https://doi.org/10.1073/pnas.0902104106"">10.1073/pnas.0902104106</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27899188"">27899188</a>
 著者        Giri VN, Beebe-Dimmer JL
 タイトル      Familial prostate cancer.
 雑誌        Semin Oncol 43:560-565 (2016)
 DOI:<a href=""https://doi.org/10.1053/j.seminoncol.2016.08.001"">10.1053/j.seminoncol.2016.08.001</a>"
H02531,"家族性乳がん卵巣がん
 下位グループ    遺伝性乳癌卵巣癌症候群 (HBOC)",,,"Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk of ovarian cancer. Recently, mutations in RAD51C and RAD51D were identified in families with breast and ovarian cancer.",がん,,"(BROVCA1) BRCA1 [HSA:672] [KO:K10605]
 (BROVCA2) BRCA2 [HSA:675] [KO:K08775]
 (BROVCA3) RAD51C [HSA:5889] [KO:K10870]
 (BROVCA4) RAD51D [HSA:5892] [KO:K10871]",,,,,,"ICD-11: 2C65
 MeSH: D061325
 OMIM: 604370 612555 613399 614291","PMID:11257103
 著者        Welcsh PL, King MC
 タイトル      BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.
 雑誌        Hum Mol Genet 10:705-13 (2001)
 DOI:10.1093/hmg/10.7.705
 PMID:21616938
 著者        Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H
 タイトル      RAD51C is a susceptibility gene for ovarian cancer.
 雑誌        Hum Mol Genet 20:3278-88 (2011)
 DOI:10.1093/hmg/ddr229
 PMID:21822267
 著者        Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N
 タイトル      Germline mutations in RAD51D confer susceptibility to ovarian cancer.
 雑誌        Nat Genet 43:879-882 (2011)
 DOI:10.1038/ng.893","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02531"">H02531</a>","家族性乳がん卵巣がん
 下位グループ    遺伝性乳癌卵巣癌症候群 (HBOC)","Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk of ovarian cancer. Recently, mutations in RAD51C and RAD51D were identified in families with breast and ovarian cancer.",,"(BROVCA1) BRCA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:672"">672</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10605"">K10605</a>]
 (BROVCA2) BRCA2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:675"">675</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08775"">K08775</a>]
 (BROVCA3) RAD51C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5889"">5889</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10870"">K10870</a>]
 (BROVCA4) RAD51D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5892"">5892</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10871"">K10871</a>]",,,,,,"ICD-11: 2C65
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D061325"">D061325</a>
 OMIM: <a href=""https://www.omim.org/entry/604370"">604370</a> <a href=""https://www.omim.org/entry/612555"">612555</a> <a href=""https://www.omim.org/entry/613399"">613399</a> <a href=""https://www.omim.org/entry/614291"">614291</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11257103"">11257103</a>
 著者        Welcsh PL, King MC
 タイトル      BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.
 雑誌        Hum Mol Genet 10:705-13 (2001)
 DOI:<a href=""https://doi.org/10.1093/hmg/10.7.705"">10.1093/hmg/10.7.705</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21616938"">21616938</a>
 著者        Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H
 タイトル      RAD51C is a susceptibility gene for ovarian cancer.
 雑誌        Hum Mol Genet 20:3278-88 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr229"">10.1093/hmg/ddr229</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21822267"">21822267</a>
 著者        Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N
 タイトル      Germline mutations in RAD51D confer susceptibility to ovarian cancer.
 雑誌        Nat Genet 43:879-882 (2011)
 DOI:<a href=""https://doi.org/10.1038/ng.893"">10.1038/ng.893</a>"
H02532,"プロテアソーム関連自己炎症性症候群
 下位グループ    中條-西村症候群 [DS:H01741]",,,"Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory interferonopathy caused by loss-of-function mutations in proteasome genes. In contrast to what occurs in many other autoinflammatory diseases, patients with PRAAS do not respond to IL-1 inhibition.",免疫系疾患,,"(PRAAS1) PSMB8 [HSA:5696] [KO:K02740]
 (PRAAS2) POMP [HSA:51371] [KO:K11599]
 (PRAAS3) PSMB4 [HSA:5692] [KO:K02736]
 (PRAAS3) PSMB9 [HSA:5698] [KO:K02741]
 (PRAAS4) PSMG2 [HSA:56984] [KO:K11876]
 (PRAAS5) PSMB10 [HSA:5699] [KO:K02733]",,,,,,"ICD-11: 4A60.Y
 MeSH: D056660
 OMIM: 256040 618048 617591 619183 619175","PMID:21852578
 著者        Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K
 タイトル      Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
 雑誌        Proc Natl Acad Sci U S A 108:14914-9 (2011)
 DOI:10.1073/pnas.1106015108
 PMID:26524591
 著者        Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Kruger E, Aksentijevich I, Goldbach-Mansky R
 タイトル      Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
 雑誌        J Clin Invest 125:4196-211 (2015)
 DOI:10.1172/JCI81260
 PMID:29805043
 著者        Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS
 タイトル      Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
 雑誌        Am J Hum Genet 102:1126-1142 (2018)
 DOI:10.1016/j.ajhg.2018.04.010
 PMID:30664889
 著者        de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Kruger E
 タイトル      Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
 雑誌        J Allergy Clin Immunol 143:1939-1943.e8 (2019)
 DOI:10.1016/j.jaci.2018.12.1012
 PMID:31783057
 著者        Sarrabay G, Mechin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I
 タイトル      PSMB10, the last immunoproteasome gene missing for PRAAS.
 雑誌        J Allergy Clin Immunol 145:1015-1017.e6 (2020)
 DOI:10.1016/j.jaci.2019.11.024","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02532"">H02532</a>","プロテアソーム関連自己炎症性症候群
 下位グループ    中條-西村症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01741"">H01741</a>]","Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory interferonopathy caused by loss-of-function mutations in proteasome genes. In contrast to what occurs in many other autoinflammatory diseases, patients with PRAAS do not respond to IL-1 inhibition.",,"(PRAAS1) PSMB8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5696"">5696</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02740"">K02740</a>]
 (PRAAS2) POMP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51371"">51371</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11599"">K11599</a>]
 (PRAAS3) PSMB4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5692"">5692</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02736"">K02736</a>]
 (PRAAS3) PSMB9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5698"">5698</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02741"">K02741</a>]
 (PRAAS4) PSMG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56984"">56984</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11876"">K11876</a>]
 (PRAAS5) PSMB10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5699"">5699</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02733"">K02733</a>]",,,,,,"ICD-11: 4A60.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056660"">D056660</a>
 OMIM: <a href=""https://www.omim.org/entry/256040"">256040</a> <a href=""https://www.omim.org/entry/618048"">618048</a> <a href=""https://www.omim.org/entry/617591"">617591</a> <a href=""https://www.omim.org/entry/619183"">619183</a> <a href=""https://www.omim.org/entry/619175"">619175</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21852578"">21852578</a>
 著者        Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K
 タイトル      Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
 雑誌        Proc Natl Acad Sci U S A 108:14914-9 (2011)
 DOI:<a href=""https://doi.org/10.1073/pnas.1106015108"">10.1073/pnas.1106015108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26524591"">26524591</a>
 著者        Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Kruger E, Aksentijevich I, Goldbach-Mansky R
 タイトル      Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
 雑誌        J Clin Invest 125:4196-211 (2015)
 DOI:<a href=""https://doi.org/10.1172/JCI81260"">10.1172/JCI81260</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29805043"">29805043</a>
 著者        Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS
 タイトル      Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
 雑誌        Am J Hum Genet 102:1126-1142 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.04.010"">10.1016/j.ajhg.2018.04.010</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30664889"">30664889</a>
 著者        de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Kruger E
 タイトル      Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
 雑誌        J Allergy Clin Immunol 143:1939-1943.e8 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2018.12.1012"">10.1016/j.jaci.2018.12.1012</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31783057"">31783057</a>
 著者        Sarrabay G, Mechin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I
 タイトル      PSMB10, the last immunoproteasome gene missing for PRAAS.
 雑誌        J Allergy Clin Immunol 145:1015-1017.e6 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2019.11.024"">10.1016/j.jaci.2019.11.024</a>"
H02533,Kaufman 眼脳顔症候群,,,"Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function.",先天奇形,,UBE3B [HSA:89910] [KO:K10588],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C537013
 OMIM: 244450","PMID:23687348
 著者        Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G
 タイトル      Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
 雑誌        J Med Genet 50:493-9 (2013)
 DOI:10.1136/jmedgenet-2012-101405
 PMID:23200864
 著者        Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G
 タイトル      Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
 雑誌        Am J Hum Genet 91:998-1010 (2012)
 DOI:10.1016/j.ajhg.2012.10.011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02533"">H02533</a>",Kaufman 眼脳顔症候群,"Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function.",,"UBE3B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:89910"">89910</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10588"">K10588</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537013"">C537013</a>
 OMIM: <a href=""https://www.omim.org/entry/244450"">244450</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23687348"">23687348</a>
 著者        Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G
 タイトル      Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
 雑誌        J Med Genet 50:493-9 (2013)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2012-101405"">10.1136/jmedgenet-2012-101405</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23200864"">23200864</a>
 著者        Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G
 タイトル      Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
 雑誌        Am J Hum Genet 91:998-1010 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.10.011"">10.1016/j.ajhg.2012.10.011</a>"
H02534,"Y-連鎖精子形成異常
 上位グループ    精子形成異常 [DS:H01282]",,,The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function.,生殖系疾患,,"USP9Y [HSA:8287] [KO:K11840]
 BPY2 [HSA:9083]
 CDY1 [HSA:9085] [KO:K00653]
 CDY2A [HSA:9426] [KO:K00653]
 DAZ1 [HSA:1617] [KO:K24980]
 DAZ2 [HSA:57055] [KO:K24980]
 DAZ3 [HSA:57054] [KO:K24980]
 DDX3Y [HSA:8653] [KO:K17642]
 HSFY1 [HSA:86614]
 KDM5D [HSA:8284] [KO:K11446]
 PRY [HSA:9081]
 PRY2 [HSA:442862]
 RBMY1A1 [HSA:5940] [KO:K25090]
 RPS4Y2 [HSA:140032] [KO:K02987]
 VCY [HSA:9084]",,,,,,"ICD-11: GB04.Y
 ICD-10: N46
 OMIM: 415000","PMID:29454353
 著者        Colaco S, Modi D
 タイトル      Genetics of the human Y chromosome and its association with male infertility.
 雑誌        Reprod Biol Endocrinol 16:14 (2018)
 DOI:10.1186/s12958-018-0330-5
 PMID:17558462
 著者        Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
 タイトル      The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.
 雑誌        J Hum Genet 52:659-663 (2007)
 DOI:10.1007/s10038-007-0160-3
 PMID:22514689
 著者        Eloualid A, Rhaissi H, Reguig A, Bounaceur S, El Houate B, Abidi O, Charif M, Louanjli N, Chadli E, Barakat A, Bashamboo A, McElreavey K, Rouba H
 タイトル      Association of spermatogenic failure with the b2/b3 partial AZFc deletion.
 雑誌        PLoS One 7:e34902 (2012)
 DOI:10.1371/journal.pone.0034902
 PMID:14985478
 著者        Tessari A, Salata E, Ferlin A, Bartoloni L, Slongo ML, Foresta C
 タイトル      Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.
 雑誌        Mol Hum Reprod 10:253-8 (2004)
 DOI:10.1093/molehr/gah036","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02534"">H02534</a>","Y-連鎖精子形成異常
 上位グループ    精子形成異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01282"">H01282</a>]",The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function.,,"USP9Y [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8287"">8287</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11840"">K11840</a>]
 BPY2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9083"">9083</a>]
 CDY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9085"">9085</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00653"">K00653</a>]
 CDY2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9426"">9426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00653"">K00653</a>]
 DAZ1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1617"">1617</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24980"">K24980</a>]
 DAZ2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57055"">57055</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24980"">K24980</a>]
 DAZ3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57054"">57054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24980"">K24980</a>]
 DDX3Y [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8653"">8653</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17642"">K17642</a>]
 HSFY1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:86614"">86614</a>]
 KDM5D [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8284"">8284</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11446"">K11446</a>]
 PRY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9081"">9081</a>]
 PRY2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:442862"">442862</a>]
 RBMY1A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5940"">5940</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25090"">K25090</a>]
 RPS4Y2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:140032"">140032</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02987"">K02987</a>]
 VCY [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9084"">9084</a>]",,,,,,"ICD-11: GB04.Y
 ICD-10: N46
 OMIM: <a href=""https://www.omim.org/entry/415000"">415000</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29454353"">29454353</a>
 著者        Colaco S, Modi D
 タイトル      Genetics of the human Y chromosome and its association with male infertility.
 雑誌        Reprod Biol Endocrinol 16:14 (2018)
 DOI:<a href=""https://doi.org/10.1186/s12958-018-0330-5"">10.1186/s12958-018-0330-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17558462"">17558462</a>
 著者        Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
 タイトル      The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.
 雑誌        J Hum Genet 52:659-663 (2007)
 DOI:<a href=""https://doi.org/10.1007/s10038-007-0160-3"">10.1007/s10038-007-0160-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22514689"">22514689</a>
 著者        Eloualid A, Rhaissi H, Reguig A, Bounaceur S, El Houate B, Abidi O, Charif M, Louanjli N, Chadli E, Barakat A, Bashamboo A, McElreavey K, Rouba H
 タイトル      Association of spermatogenic failure with the b2/b3 partial AZFc deletion.
 雑誌        PLoS One 7:e34902 (2012)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0034902"">10.1371/journal.pone.0034902</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14985478"">14985478</a>
 著者        Tessari A, Salata E, Ferlin A, Bartoloni L, Slongo ML, Foresta C
 タイトル      Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.
 雑誌        Mol Hum Reprod 10:253-8 (2004)
 DOI:<a href=""https://doi.org/10.1093/molehr/gah036"">10.1093/molehr/gah036</a>"
H02535,"顔異形を伴う神経発達障害
 下位グループ    顔異形と骨格異常を伴う神経発達障害 [DS:H02460]
 脳の構造異常および顔異形を伴う神経発達障害 (NEDBAF)
 顔異形と小脳低形成を伴う神経発達障害 (NEDFACH)
 顔異形と脳梁の菲薄化を伴う神経発達障害 (NEDDFAC)
 発話障害と顔異形を伴う神経発達障害 (NEDSID)
 白内障、成長不良および顔異形を伴う神経発達障害 (NDCAGF)
 様々な腎臓および心臓の異常を伴う神経発達・頭蓋顔面症候群 (NECRC)
 顔異形と様々な痙攣を伴う神経発達障害 (NEDDFAS)
 大脳萎縮と様々な顔異形を伴う神経発達障害 (NEDCAFD)
 顔異形と睡眠障害および脳の異常を伴う神経発達障害 (NEDFASB)
 O'Donnell-Luria-Rodan 症候群 (ODLURO)
 心臓・顔・神経発達障害症候群 (CFNDS)
 口蓋裂・増殖性網膜症および発達遅滞 (CPPRDD)
 Hiatt-Neu-Cooper 神経発達障害症候群 (HINCONS)
 Alzahrani-Kuwahara 症候群 (ALKUS)
 上位グループ    症候群性神経発達障害 [DS:H02459]",,,Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic causes of these diseases have been identified.,先天奇形,,"(NEDBAF) RAC3 [HSA:5881] [KO:K07861]
 (NEDFACH) EXOC2 [HSA:55770] [KO:K17637]
 (NEDDFAC) SUPT16H [HSA:11198] [KO:K25639]
 (NEDSID) SETD1A [HSA:9739] [KO:K11422]
 (NDCAGF) INTS1 [HSA:26173] [KO:K13138]
 (NECRC) ZMYM2 [HSA:7750] [KO:K24675]
 (NEDDFAS) EMC10 [HSA:284361] [KO:K23570]
 (NEDCAFD) TTC5 [HSA:91875] [KO:K24928]
 (NEDFASB) KAT5 [HSA:10524] [KO:K11304]
 (ODLURO) KMT2E [HSA:55904] [KO:K09189]
 (CFNDS) CCDC32 [HSA:90416]
 (CPPRDD) LRRC32 [HSA:2615]
 (HINCONS) RALA [HSA:5898] [KO:K07834]
 (ALKUS) SMG8 [HSA:55181] [KO:K18734]",,,,,,"ICD-11: 6A0Y
 OMIM: 618577 619306 619480 619056 618571 619522 619264 619244 619103 618512 619123 619074 619311 619268","PMID:30293988 (NEDBAF)
 著者        Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS
 タイトル      De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
 雑誌        Genet Med 21:1021-1026 (2019)
 DOI:10.1038/s41436-018-0323-y
 PMID:32639540 (NEDFACH)
 著者        Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J
 タイトル      Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
 雑誌        J Exp Med 217:e20192040 (2020)
 DOI:10.1084/jem.20192040
 PMID:31924697 (NEDDFAC)
 著者        Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH
 タイトル      De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
 雑誌        J Med Genet 57:461-465 (2020)
 DOI:10.1136/jmedgenet-2019-106193
 PMID:26974950 (NEDSID)
 著者        Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietilainen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Korkko J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lonnqvist J, Mannikko M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC
 タイトル      Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
 雑誌        Nat Neurosci 19:571-7 (2016)
 DOI:10.1038/nn.4267
 PMID:30622326 (NDCAGF)
 著者        Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM
 タイトル      Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
 雑誌        Eur J Hum Genet 27:582-593 (2019)
 DOI:10.1038/s41431-018-0298-9
 PMID:32891193 (NECRC)
 著者        Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klambt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F
 タイトル      Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
 雑誌        Am J Hum Genet 107:727-742 (2020)
 DOI:10.1016/j.ajhg.2020.08.013
 PMID:33531666 (NEDDFAS)
 著者        Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA
 タイトル      A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
 雑誌        Genet Med 23:1158-1162 (2021)
 DOI:10.1038/s41436-021-01097-x
 PMID:32439809 (NEDCAFD)
 著者        Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A
 タイトル      Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
 雑誌        J Med Genet 58:237-246 (2021)
 DOI:10.1136/jmedgenet-2020-106849
 PMID:32822602 (NEDFASB)
 著者        Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Cote J, Campeau PM
 タイトル      De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
 雑誌        Am J Hum Genet 107:564-574 (2020)
 DOI:10.1016/j.ajhg.2020.08.002
 PMID:31079897 (ODLURO)
 著者        O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Curro A, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Heron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Riess A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH
 タイトル      Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
 雑誌        Am J Hum Genet 104:1210-1222 (2019)
 DOI:10.1016/j.ajhg.2019.03.021
 PMID:32307552 (CFNDS)
 著者        Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, Seri M, Pippucci T, Elpeleg O, Katsanis N
 タイトル      Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
 雑誌        Hum Mol Genet 29:1489-1497 (2020)
 DOI:10.1093/hmg/ddaa073
 PMID:30976112 (CPPRDD)
 著者        Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O
 タイトル      Homozygous stop-gain variant in LRRC32, encoding a TGFbeta receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
 雑誌        Eur J Hum Genet 27:1315-1319 (2019)
 DOI:10.1038/s41431-019-0380-y
 PMID:30500825 (HINCONS)
 著者        Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM
 タイトル      De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
 雑誌        PLoS Genet 14:e1007671 (2018)
 DOI:10.1371/journal.pgen.1007671
 PMID:33242396 (ALKUS)
 著者        Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, Lemire G, Boycott KM, Hashem M, Han W, Al-Maawali A, Al Mahrizi F, Al-Thihli K, Gao X, Alkuraya FS
 タイトル      Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
 雑誌        Am J Hum Genet 107:1178-1185 (2020)
 DOI:10.1016/j.ajhg.2020.11.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02535"">H02535</a>","顔異形を伴う神経発達障害
 下位グループ    顔異形と骨格異常を伴う神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02460"">H02460</a>]
 脳の構造異常および顔異形を伴う神経発達障害 (NEDBAF)
 顔異形と小脳低形成を伴う神経発達障害 (NEDFACH)
 顔異形と脳梁の菲薄化を伴う神経発達障害 (NEDDFAC)
 発話障害と顔異形を伴う神経発達障害 (NEDSID)
 白内障、成長不良および顔異形を伴う神経発達障害 (NDCAGF)
 様々な腎臓および心臓の異常を伴う神経発達・頭蓋顔面症候群 (NECRC)
 顔異形と様々な痙攣を伴う神経発達障害 (NEDDFAS)
 大脳萎縮と様々な顔異形を伴う神経発達障害 (NEDCAFD)
 顔異形と睡眠障害および脳の異常を伴う神経発達障害 (NEDFASB)
 O'Donnell-Luria-Rodan 症候群 (ODLURO)
 心臓・顔・神経発達障害症候群 (CFNDS)
 口蓋裂・増殖性網膜症および発達遅滞 (CPPRDD)
 Hiatt-Neu-Cooper 神経発達障害症候群 (HINCONS)
 Alzahrani-Kuwahara 症候群 (ALKUS)
 上位グループ    症候群性神経発達障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02459"">H02459</a>]",Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic causes of these diseases have been identified.,,"(NEDBAF) RAC3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5881"">5881</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07861"">K07861</a>]
 (NEDFACH) EXOC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55770"">55770</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K17637"">K17637</a>]
 (NEDDFAC) SUPT16H [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:11198"">11198</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K25639"">K25639</a>]
 (NEDSID) SETD1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:9739"">9739</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11422"">K11422</a>]
 (NDCAGF) INTS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:26173"">26173</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13138"">K13138</a>]
 (NECRC) ZMYM2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7750"">7750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24675"">K24675</a>]
 (NEDDFAS) EMC10 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:284361"">284361</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23570"">K23570</a>]
 (NEDCAFD) TTC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:91875"">91875</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24928"">K24928</a>]
 (NEDFASB) KAT5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10524"">10524</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11304"">K11304</a>]
 (ODLURO) KMT2E [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55904"">55904</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09189"">K09189</a>]
 (CFNDS) CCDC32 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:90416"">90416</a>]
 (CPPRDD) LRRC32 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2615"">2615</a>]
 (HINCONS) RALA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5898"">5898</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07834"">K07834</a>]
 (ALKUS) SMG8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55181"">55181</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18734"">K18734</a>]",,,,,,"ICD-11: 6A0Y
 OMIM: <a href=""https://www.omim.org/entry/618577"">618577</a> <a href=""https://www.omim.org/entry/619306"">619306</a> <a href=""https://www.omim.org/entry/619480"">619480</a> <a href=""https://www.omim.org/entry/619056"">619056</a> <a href=""https://www.omim.org/entry/618571"">618571</a> <a href=""https://www.omim.org/entry/619522"">619522</a> <a href=""https://www.omim.org/entry/619264"">619264</a> <a href=""https://www.omim.org/entry/619244"">619244</a> <a href=""https://www.omim.org/entry/619103"">619103</a> <a href=""https://www.omim.org/entry/618512"">618512</a> <a href=""https://www.omim.org/entry/619123"">619123</a> <a href=""https://www.omim.org/entry/619074"">619074</a> <a href=""https://www.omim.org/entry/619311"">619311</a> <a href=""https://www.omim.org/entry/619268"">619268</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30293988"">30293988</a> (NEDBAF)
 著者        Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS
 タイトル      De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
 雑誌        Genet Med 21:1021-1026 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41436-018-0323-y"">10.1038/s41436-018-0323-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32639540"">32639540</a> (NEDFACH)
 著者        Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J
 タイトル      Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
 雑誌        J Exp Med 217:e20192040 (2020)
 DOI:<a href=""https://doi.org/10.1084/jem.20192040"">10.1084/jem.20192040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31924697"">31924697</a> (NEDDFAC)
 著者        Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH
 タイトル      De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
 雑誌        J Med Genet 57:461-465 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2019-106193"">10.1136/jmedgenet-2019-106193</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26974950"">26974950</a> (NEDSID)
 著者        Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietilainen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Korkko J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lonnqvist J, Mannikko M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC
 タイトル      Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
 雑誌        Nat Neurosci 19:571-7 (2016)
 DOI:<a href=""https://doi.org/10.1038/nn.4267"">10.1038/nn.4267</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30622326"">30622326</a> (NDCAGF)
 著者        Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM
 タイトル      Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
 雑誌        Eur J Hum Genet 27:582-593 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-018-0298-9"">10.1038/s41431-018-0298-9</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32891193"">32891193</a> (NECRC)
 著者        Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klambt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F
 タイトル      Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
 雑誌        Am J Hum Genet 107:727-742 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.08.013"">10.1016/j.ajhg.2020.08.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33531666"">33531666</a> (NEDDFAS)
 著者        Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA
 タイトル      A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
 雑誌        Genet Med 23:1158-1162 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41436-021-01097-x"">10.1038/s41436-021-01097-x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32439809"">32439809</a> (NEDCAFD)
 著者        Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A
 タイトル      Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
 雑誌        J Med Genet 58:237-246 (2021)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2020-106849"">10.1136/jmedgenet-2020-106849</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32822602"">32822602</a> (NEDFASB)
 著者        Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Cote J, Campeau PM
 タイトル      De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
 雑誌        Am J Hum Genet 107:564-574 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.08.002"">10.1016/j.ajhg.2020.08.002</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31079897"">31079897</a> (ODLURO)
 著者        O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Curro A, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Heron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Riess A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH
 タイトル      Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
 雑誌        Am J Hum Genet 104:1210-1222 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.03.021"">10.1016/j.ajhg.2019.03.021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32307552"">32307552</a> (CFNDS)
 著者        Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, Seri M, Pippucci T, Elpeleg O, Katsanis N
 タイトル      Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
 雑誌        Hum Mol Genet 29:1489-1497 (2020)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddaa073"">10.1093/hmg/ddaa073</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30976112"">30976112</a> (CPPRDD)
 著者        Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O
 タイトル      Homozygous stop-gain variant in LRRC32, encoding a TGFbeta receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
 雑誌        Eur J Hum Genet 27:1315-1319 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41431-019-0380-y"">10.1038/s41431-019-0380-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30500825"">30500825</a> (HINCONS)
 著者        Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM
 タイトル      De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
 雑誌        PLoS Genet 14:e1007671 (2018)
 DOI:<a href=""https://doi.org/10.1371/journal.pgen.1007671"">10.1371/journal.pgen.1007671</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33242396"">33242396</a> (ALKUS)
 著者        Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, Lemire G, Boycott KM, Hashem M, Han W, Al-Maawali A, Al Mahrizi F, Al-Thihli K, Gao X, Alkuraya FS
 タイトル      Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
 雑誌        Am J Hum Genet 107:1178-1185 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.11.007"">10.1016/j.ajhg.2020.11.007</a>"
H02536,"感染誘発性急性脳症
 下位グループ    単純ヘルペス脳炎 (HSE)
 急性壊死性脳症 (ADANE)",,,"Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, such as influenza, parainfluenza, and herpes simplex virus. It is possible that genetic factors play an important role in the aetiology of IIAE. For example, herpes simplex encephalitis (HSE) has been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3.",神経系疾患; 感染症,,"(IIAE1) UNC93B1 [HSA:81622]
 (IIAE2) TLR3 [HSA:7098] [KO:K05401]
 (IIAE3) RANBP2 [HSA:5903] [KO:K12172]
 (IIAE4) CPT2 [HSA:1376] [KO:K08766]
 (IIAE5) TRAF3 [HSA:7187] [KO:K03174]
 (IIAE6) TICAM1 [HSA:148022] [KO:K05842]
 (IIAE7) IRF3 [HSA:3661] [KO:K05411]
 (IIAE8) TBK1 [HSA:29110] [KO:K05410]
 (IIAE9) NUP214 [HSA:8021] [KO:K14317]
 (IIAE10) SNORA31 [HSA:677814]
 (IIAE11) DBR1 [HSA:51163] [KO:K18328]","Human herpesvirus 1 [GN:T40073]
 Human herpesvirus 2 [GN:T40074]
 Influenza A virus [GN:T40035 T40036 T40037 T40038]
 influenza B virus [GN:T40039]
 Human parainfluenza virus 2 [GN:T40042]",,,,,"ICD-11: 1C80
 MeSH: D000069544
 OMIM: 610551 613002 608033 614212 614849 614850 616532 617900 618426 619396 619441","PMID:16973841
 著者        Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Senechal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Heron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL
 タイトル      Herpes simplex virus encephalitis in human UNC-93B deficiency.
 雑誌        Science 314:308-12 (2006)
 DOI:10.1126/science.1128346
 PMID:23103873
 著者        Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD
 タイトル      Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
 雑誌        Nature 491:769-73 (2012)
 DOI:10.1038/nature11583
 PMID:19118815
 著者        Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML
 タイトル      Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
 雑誌        Am J Hum Genet 84:44-51 (2009)
 DOI:10.1016/j.ajhg.2008.12.009
 PMID:15811315
 著者        Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H
 タイトル      Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
 雑誌        FEBS Lett 579:2040-4 (2005)
 DOI:10.1016/j.febslet.2005.02.050
 PMID:26513235
 著者        Mork N, Kofod-Olsen E, Sorensen KB, Bach E, Orntoft TF, Ostergaard L, Paludan SR, Christiansen M, Mogensen TH
 タイトル      Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
 雑誌        Genes Immun 16:552-66 (2015)
 DOI:10.1038/gene.2015.46
 PMID:31178128
 著者        Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S
 タイトル      Pathogenic Variants in NUP214 Cause ""Plugged"" Nuclear Pore Channels and Acute Febrile Encephalopathy.
 雑誌        Am J Hum Genet 105:48-64 (2019)
 DOI:10.1016/j.ajhg.2019.05.003
 PMID:31806906
 著者        Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY
 タイトル      Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
 雑誌        Nat Med 25:1873-1884 (2019)
 DOI:10.1038/s41591-019-0672-3
 PMID:29474921
 著者        Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL
 タイトル      Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
 雑誌        Cell 172:952-965.e18 (2018)
 DOI:10.1016/j.cell.2018.02.019","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02536"">H02536</a>","感染誘発性急性脳症
 下位グループ    単純ヘルペス脳炎 (HSE)
 急性壊死性脳症 (ADANE)","Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, such as influenza, parainfluenza, and herpes simplex virus. It is possible that genetic factors play an important role in the aetiology of IIAE. For example, herpes simplex encephalitis (HSE) has been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3.",,"(IIAE1) UNC93B1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81622"">81622</a>]
 (IIAE2) TLR3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7098"">7098</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05401"">K05401</a>]
 (IIAE3) RANBP2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5903"">5903</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12172"">K12172</a>]
 (IIAE4) CPT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1376"">1376</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08766"">K08766</a>]
 (IIAE5) TRAF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7187"">7187</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03174"">K03174</a>]
 (IIAE6) TICAM1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:148022"">148022</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05842"">K05842</a>]
 (IIAE7) IRF3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3661"">3661</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05411"">K05411</a>]
 (IIAE8) TBK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:29110"">29110</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05410"">K05410</a>]
 (IIAE9) NUP214 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8021"">8021</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14317"">K14317</a>]
 (IIAE10) SNORA31 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:677814"">677814</a>]
 (IIAE11) DBR1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51163"">51163</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18328"">K18328</a>]","Human herpesvirus 1 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40073"">T40073</a>]
 Human herpesvirus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40074"">T40074</a>]
 Influenza A virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40035"">T40035</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40036"">T40036</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40037"">T40037</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40038"">T40038</a>]
 influenza B virus [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40039"">T40039</a>]
 Human parainfluenza virus 2 [GN:<a href=""https://www.genome.jp/dbget-bin/www_bget?gn_ja:T40042"">T40042</a>]",,,,,"ICD-11: 1C80
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000069544"">D000069544</a>
 OMIM: <a href=""https://www.omim.org/entry/610551"">610551</a> <a href=""https://www.omim.org/entry/613002"">613002</a> <a href=""https://www.omim.org/entry/608033"">608033</a> <a href=""https://www.omim.org/entry/614212"">614212</a> <a href=""https://www.omim.org/entry/614849"">614849</a> <a href=""https://www.omim.org/entry/614850"">614850</a> <a href=""https://www.omim.org/entry/616532"">616532</a> <a href=""https://www.omim.org/entry/617900"">617900</a> <a href=""https://www.omim.org/entry/618426"">618426</a> <a href=""https://www.omim.org/entry/619396"">619396</a> <a href=""https://www.omim.org/entry/619441"">619441</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16973841"">16973841</a>
 著者        Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Senechal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Heron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL
 タイトル      Herpes simplex virus encephalitis in human UNC-93B deficiency.
 雑誌        Science 314:308-12 (2006)
 DOI:<a href=""https://doi.org/10.1126/science.1128346"">10.1126/science.1128346</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23103873"">23103873</a>
 著者        Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD
 タイトル      Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
 雑誌        Nature 491:769-73 (2012)
 DOI:<a href=""https://doi.org/10.1038/nature11583"">10.1038/nature11583</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19118815"">19118815</a>
 著者        Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML
 タイトル      Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
 雑誌        Am J Hum Genet 84:44-51 (2009)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.12.009"">10.1016/j.ajhg.2008.12.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15811315"">15811315</a>
 著者        Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H
 タイトル      Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
 雑誌        FEBS Lett 579:2040-4 (2005)
 DOI:<a href=""https://doi.org/10.1016/j.febslet.2005.02.050"">10.1016/j.febslet.2005.02.050</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26513235"">26513235</a>
 著者        Mork N, Kofod-Olsen E, Sorensen KB, Bach E, Orntoft TF, Ostergaard L, Paludan SR, Christiansen M, Mogensen TH
 タイトル      Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
 雑誌        Genes Immun 16:552-66 (2015)
 DOI:<a href=""https://doi.org/10.1038/gene.2015.46"">10.1038/gene.2015.46</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31178128"">31178128</a>
 著者        Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S
 タイトル      Pathogenic Variants in NUP214 Cause ""Plugged"" Nuclear Pore Channels and Acute Febrile Encephalopathy.
 雑誌        Am J Hum Genet 105:48-64 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.05.003"">10.1016/j.ajhg.2019.05.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31806906"">31806906</a>
 著者        Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY
 タイトル      Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
 雑誌        Nat Med 25:1873-1884 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41591-019-0672-3"">10.1038/s41591-019-0672-3</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29474921"">29474921</a>
 著者        Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL
 タイトル      Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
 雑誌        Cell 172:952-965.e18 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.cell.2018.02.019"">10.1016/j.cell.2018.02.019</a>"
H02537,自己炎症、免疫調節障害および好酸球増多症,,,"Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway plays an integral role in extracellular cytokine and growth factor signaling, as well as in controlling hematopoiesis and immune function. It has been reported that AIIDE is rescued by JAK inhibitor therapy.",免疫系疾患,,JAK1 [HSA:3716] [KO:K11217],,,,,,"ICD-11: 4A4Y
 MeSH: D056660
 OMIM: 618999","PMID:28111307
 著者        Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE
 タイトル      JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
 雑誌        J Allergy Clin Immunol 139:2016-2020.e5 (2017)
 DOI:10.1016/j.jaci.2016.12.957
 PMID:32750333
 著者        Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D
 タイトル      Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
 雑誌        Immunity 53:672-684.e11 (2020)
 DOI:10.1016/j.immuni.2020.07.006","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02537"">H02537</a>",自己炎症、免疫調節障害および好酸球増多症,"Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway plays an integral role in extracellular cytokine and growth factor signaling, as well as in controlling hematopoiesis and immune function. It has been reported that AIIDE is rescued by JAK inhibitor therapy.",,"JAK1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3716"">3716</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11217"">K11217</a>]",,,,,,"ICD-11: 4A4Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056660"">D056660</a>
 OMIM: <a href=""https://www.omim.org/entry/618999"">618999</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28111307"">28111307</a>
 著者        Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE
 タイトル      JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
 雑誌        J Allergy Clin Immunol 139:2016-2020.e5 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.jaci.2016.12.957"">10.1016/j.jaci.2016.12.957</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32750333"">32750333</a>
 著者        Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D
 タイトル      Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
 雑誌        Immunity 53:672-684.e11 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.immuni.2020.07.006"">10.1016/j.immuni.2020.07.006</a>"
H02538,"傍神経節腫
 下位グループ    悪性傍神経節腫 [DS:H01510]",,,Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly influenced by genetics.,がん,,"(PGL1) SDHD [HSA:6392] [KO:K00237]
 (PGL2) SDHAF2 [HSA:54949] [KO:K18168]
 (PGL3) SDHC [HSA:6391] [KO:K00236]
 (PGL4) SDHB [HSA:6390] [KO:K00235]
 (PGL5) SDHA [HSA:6389] [KO:K00234]
 (PGL6) SLC25A11 [HSA:8402] [KO:K15104]
 (PGL7) DLST [HSA:1743] [KO:K00658]",,,,3-ヨードベンジルグアニジン (131I) [DR:D03308] (MIBG集積陽性),,"ICD-11: 2E92.2
 ICD-10: D44.7
 MeSH: D010235
 OMIM: 168000 601650 605373 115310 614165 618464 618475","PMID:25385035
 著者        Favier J, Amar L, Gimenez-Roqueplo AP
 タイトル      Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
 雑誌        Nat Rev Endocrinol 11:101-11 (2015)
 DOI:10.1038/nrendo.2014.188
 PMID:15795514
 著者        Favier J, Briere JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP
 タイトル      Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
 雑誌        Horm Res 63:171-9 (2005)
 DOI:10.1159/000084685
 PMID:19628817
 著者        Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J
 タイトル      SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
 雑誌        Science 325:1139-42 (2009)
 DOI:10.1126/science.1175689
 PMID:29431636
 著者        Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouze E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J
 タイトル      Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
 雑誌        Cancer Res 78:1914-1922 (2018)
 DOI:10.1158/0008-5472.CAN-17-2463
 PMID:30929736
 著者        Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Curras-Freixes M, Leton R, Torres-Perez R, Richter S, Pita G, Herraez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, Garcia-Uriarte O, Galvez MA, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodriguez-Antona C, Llorca O, Smolen GA, Robledo M, Cascon A
 タイトル      Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
 雑誌        Am J Hum Genet 104:651-664 (2019)
 DOI:10.1016/j.ajhg.2019.02.017","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02538"">H02538</a>","傍神経節腫
 下位グループ    悪性傍神経節腫 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01510"">H01510</a>]",Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly influenced by genetics.,,"(PGL1) SDHD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6392"">6392</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00237"">K00237</a>]
 (PGL2) SDHAF2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54949"">54949</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18168"">K18168</a>]
 (PGL3) SDHC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6391"">6391</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00236"">K00236</a>]
 (PGL4) SDHB [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6390"">6390</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00235"">K00235</a>]
 (PGL5) SDHA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6389"">6389</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00234"">K00234</a>]
 (PGL6) SLC25A11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8402"">8402</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15104"">K15104</a>]
 (PGL7) DLST [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1743"">1743</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00658"">K00658</a>]",,,,"3-ヨードベンジルグアニジン (131I) [DR:<a href=""https://www.genome.jp/dbget-bin/www_bget?dr_ja:D03308"">D03308</a>] (MIBG集積陽性)",,"ICD-11: 2E92.2
 ICD-10: D44.7
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D010235"">D010235</a>
 OMIM: <a href=""https://www.omim.org/entry/168000"">168000</a> <a href=""https://www.omim.org/entry/601650"">601650</a> <a href=""https://www.omim.org/entry/605373"">605373</a> <a href=""https://www.omim.org/entry/115310"">115310</a> <a href=""https://www.omim.org/entry/614165"">614165</a> <a href=""https://www.omim.org/entry/618464"">618464</a> <a href=""https://www.omim.org/entry/618475"">618475</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25385035"">25385035</a>
 著者        Favier J, Amar L, Gimenez-Roqueplo AP
 タイトル      Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
 雑誌        Nat Rev Endocrinol 11:101-11 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrendo.2014.188"">10.1038/nrendo.2014.188</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15795514"">15795514</a>
 著者        Favier J, Briere JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP
 タイトル      Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
 雑誌        Horm Res 63:171-9 (2005)
 DOI:<a href=""https://doi.org/10.1159/000084685"">10.1159/000084685</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19628817"">19628817</a>
 著者        Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J
 タイトル      SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
 雑誌        Science 325:1139-42 (2009)
 DOI:<a href=""https://doi.org/10.1126/science.1175689"">10.1126/science.1175689</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29431636"">29431636</a>
 著者        Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouze E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J
 タイトル      Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
 雑誌        Cancer Res 78:1914-1922 (2018)
 DOI:<a href=""https://doi.org/10.1158/0008-5472.CAN-17-2463"">10.1158/0008-5472.CAN-17-2463</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30929736"">30929736</a>
 著者        Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Curras-Freixes M, Leton R, Torres-Perez R, Richter S, Pita G, Herraez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, Garcia-Uriarte O, Galvez MA, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodriguez-Antona C, Llorca O, Smolen GA, Robledo M, Cascon A
 タイトル      Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
 雑誌        Am J Hum Genet 104:651-664 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.02.017"">10.1016/j.ajhg.2019.02.017</a>"
H02539,"椎間板症
 下位グループ    腰部椎間板症",,,Intervertebral disk degeneration (IDD) is a common musculoskeletal disease associated with genetic factors.,筋骨格疾患,,"COL11A1 [HSA:1301] [KO:K19721]
 COL9A3 [HSA:1299] [KO:K08131]
 THBS2 [HSA:7058] [KO:K04659]
 ASPN [HSA:54829] [KO:K08120]
 CILP [HSA:8483] [KO:K24436]",,,,,,"ICD-11: FA80
 ICD-10: M51
 MeSH: D055959
 OMIM: 603932","PMID:30342505
 著者        Huang D, Deng X, Ma K, Wu F, Shi D, Liang H, Chen S, Shao Z
 タイトル      Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
 雑誌        BMC Musculoskelet Disord 19:381 (2018)
 DOI:10.1186/s12891-018-2297-y
 PMID:17999364
 著者        Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
 タイトル      A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
 雑誌        Am J Hum Genet 81:1271-7 (2007)
 DOI:10.1086/522377
 PMID:18455130
 著者        Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S
 タイトル      A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.
 雑誌        Am J Hum Genet 82:1122-9 (2008)
 DOI:10.1016/j.ajhg.2008.03.013
 PMID:18304494
 著者        Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D
 タイトル      Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
 雑誌        Am J Hum Genet 82:744-7 (2008)
 DOI:10.1016/j.ajhg.2007.12.017
 PMID:15864306
 著者        Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S
 タイトル      A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
 雑誌        Nat Genet 37:607-12 (2005)
 DOI:10.1038/ng1557","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02539"">H02539</a>","椎間板症
 下位グループ    腰部椎間板症",Intervertebral disk degeneration (IDD) is a common musculoskeletal disease associated with genetic factors.,,"COL11A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1301"">1301</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19721"">K19721</a>]
 COL9A3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1299"">1299</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08131"">K08131</a>]
 THBS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7058"">7058</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04659"">K04659</a>]
 ASPN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54829"">54829</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08120"">K08120</a>]
 CILP [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8483"">8483</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K24436"">K24436</a>]",,,,,,"ICD-11: FA80
 ICD-10: M51
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055959"">D055959</a>
 OMIM: <a href=""https://www.omim.org/entry/603932"">603932</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30342505"">30342505</a>
 著者        Huang D, Deng X, Ma K, Wu F, Shi D, Liang H, Chen S, Shao Z
 タイトル      Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
 雑誌        BMC Musculoskelet Disord 19:381 (2018)
 DOI:<a href=""https://doi.org/10.1186/s12891-018-2297-y"">10.1186/s12891-018-2297-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17999364"">17999364</a>
 著者        Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
 タイトル      A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
 雑誌        Am J Hum Genet 81:1271-7 (2007)
 DOI:<a href=""https://doi.org/10.1086/522377"">10.1086/522377</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18455130"">18455130</a>
 著者        Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S
 タイトル      A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.
 雑誌        Am J Hum Genet 82:1122-9 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2008.03.013"">10.1016/j.ajhg.2008.03.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18304494"">18304494</a>
 著者        Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D
 タイトル      Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
 雑誌        Am J Hum Genet 82:744-7 (2008)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2007.12.017"">10.1016/j.ajhg.2007.12.017</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15864306"">15864306</a>
 著者        Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S
 タイトル      A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
 雑誌        Nat Genet 37:607-12 (2005)
 DOI:<a href=""https://doi.org/10.1038/ng1557"">10.1038/ng1557</a>"
H02540,乳児発症多臓器自己免疫疾患,,,Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.,免疫系疾患,,"(ADMIO1) STAT3 [HSA:6774] [KO:K04692]
 (ADMIO2) ZAP70 [HSA:7535] [KO:K07360]",,,,,,"ICD-11: 4A43.Y
 MeSH: D001327
 OMIM: 615952 617006","PMID:25038750
 著者        Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
 タイトル      Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
 雑誌        Nat Genet 46:812-814 (2014)
 DOI:10.1038/ng.3040
 PMID:26783323
 著者        Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM
 タイトル      A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
 雑誌        J Exp Med 213:155-65 (2016)
 DOI:10.1084/jem.20150888
 PMID:31771449
 著者        Terry J, Langlois S, Rupps R, Gill H
 タイトル      Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.
 雑誌        Pediatr Dev Pathol 23:306-311 (2020)
 DOI:10.1177/1093526619890734","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02540"">H02540</a>",乳児発症多臓器自己免疫疾患,Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.,,"(ADMIO1) STAT3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6774"">6774</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04692"">K04692</a>]
 (ADMIO2) ZAP70 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7535"">7535</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07360"">K07360</a>]",,,,,,"ICD-11: 4A43.Y
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D001327"">D001327</a>
 OMIM: <a href=""https://www.omim.org/entry/615952"">615952</a> <a href=""https://www.omim.org/entry/617006"">617006</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25038750"">25038750</a>
 著者        Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
 タイトル      Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
 雑誌        Nat Genet 46:812-814 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3040"">10.1038/ng.3040</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26783323"">26783323</a>
 著者        Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM
 タイトル      A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
 雑誌        J Exp Med 213:155-65 (2016)
 DOI:<a href=""https://doi.org/10.1084/jem.20150888"">10.1084/jem.20150888</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31771449"">31771449</a>
 著者        Terry J, Langlois S, Rupps R, Gill H
 タイトル      Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.
 雑誌        Pediatr Dev Pathol 23:306-311 (2020)
 DOI:<a href=""https://doi.org/10.1177/1093526619890734"">10.1177/1093526619890734</a>"
H02541,若年性骨髄単球性白血病,,,Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction resulting from mutations in components of the RAS-signaling pathway.,がん,,"PTPN11 [HSA:5781] [KO:K07293]
 ARHGAP26 [HSA:23092] [KO:K20071]
 CBL [HSA:867] [KO:K04707]
 NF1 [HSA:4763] [KO:K08052]",,,,,,"ICD-11: 2A42
 ICD-10: C93.3
 MeSH: D054429
 OMIM: 607785","PMID:30504325
 著者        Niemeyer CM
 タイトル      JMML genomics and decisions.
 雑誌        Hematology Am Soc Hematol Educ Program 2018:307-312 (2018)
 DOI:10.1182/asheducation-2018.1.307
 PMID:22195407
 著者        Proytcheva M
 タイトル      Juvenile myelomonocytic leukemia.
 雑誌        Semin Diagn Pathol 28:298-303 (2011)
 DOI:10.1053/j.semdp.2011.08.007
 PMID:10908648
 著者        Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
 タイトル      The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
 雑誌        Proc Natl Acad Sci U S A 97:9168-73 (2000)
 DOI:10.1073/pnas.150079597","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02541"">H02541</a>",若年性骨髄単球性白血病,Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction resulting from mutations in components of the RAS-signaling pathway.,,"PTPN11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5781"">5781</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07293"">K07293</a>]
 ARHGAP26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23092"">23092</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K20071"">K20071</a>]
 CBL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:867"">867</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04707"">K04707</a>]
 NF1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4763"">4763</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08052"">K08052</a>]",,,,,,"ICD-11: 2A42
 ICD-10: C93.3
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D054429"">D054429</a>
 OMIM: <a href=""https://www.omim.org/entry/607785"">607785</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30504325"">30504325</a>
 著者        Niemeyer CM
 タイトル      JMML genomics and decisions.
 雑誌        Hematology Am Soc Hematol Educ Program 2018:307-312 (2018)
 DOI:<a href=""https://doi.org/10.1182/asheducation-2018.1.307"">10.1182/asheducation-2018.1.307</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22195407"">22195407</a>
 著者        Proytcheva M
 タイトル      Juvenile myelomonocytic leukemia.
 雑誌        Semin Diagn Pathol 28:298-303 (2011)
 DOI:<a href=""https://doi.org/10.1053/j.semdp.2011.08.007"">10.1053/j.semdp.2011.08.007</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10908648"">10908648</a>
 著者        Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
 タイトル      The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
 雑誌        Proc Natl Acad Sci U S A 97:9168-73 (2000)
 DOI:<a href=""https://doi.org/10.1073/pnas.150079597"">10.1073/pnas.150079597</a>"
H02542,"急性前骨髄球性白血病
 上位グループ    急性骨髄性白血病 [DS:H00003]",,,"Acute promyelocytic leukemia (APL) is the most malignant form of acute myeloid leukemia (AML) with a severe bleeding tendency and a fatal course of only weeks. Morphologically, it is identified as AML-M3 by the FAB classification. APL is characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA). The majority of APL patients present with the classic PML-RARA translocation. However, approximately 5% of patients with APL have a non- characteristic translocation. Other chimeric proteins have been observed including PLZF-RARA, NUMA1-RARA, and so on.",がん,,"PML-RARA (translocation) [HSA:5371 5914] [KO:K10054 K08527]
 PLZF-RARA (translocation) [HSA:7704] [KO:K10055]
 NUMA1-RARA (translocation) [HSA:4926] [KO:K16808]",,,,,,"ICD-11: 2A60.0
 ICD-10: C92.4
 MeSH: D015473
 OMIM: 612376","PMID:32215187
 著者        Jimenez JJ, Chale RS, Abad AC, Schally AV
 タイトル      Acute promyelocytic leukemia (APL): a review of the literature.
 雑誌        Oncotarget 11:992-1003 (2020)
 DOI:10.18632/oncotarget.27513
 PMID:18299451
 著者        Wang ZY, Chen Z
 タイトル      Acute promyelocytic leukemia: from highly fatal to highly curable.
 雑誌        Blood 111:2505-15 (2008)
 DOI:10.1182/blood-2007-07-102798
 PMID:8387545
 著者        Chen SJ, Zelent A, Tong JH, Yu HQ, Wang ZY, Derre J, Berger R, Waxman S, Chen Z
 タイトル      Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia.
 雑誌        J Clin Invest 91:2260-7 (1993)
 DOI:10.1172/JCI116453
 PMID:9288109
 著者        Wells RA, Catzavelos C, Kamel-Reid S
 タイトル      Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.
 雑誌        Nat Genet 17:109-13 (1997)
 DOI:10.1038/ng0997-109","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02542"">H02542</a>","急性前骨髄球性白血病
 上位グループ    急性骨髄性白血病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00003"">H00003</a>]","Acute promyelocytic leukemia (APL) is the most malignant form of acute myeloid leukemia (AML) with a severe bleeding tendency and a fatal course of only weeks. Morphologically, it is identified as AML-M3 by the FAB classification. APL is characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA). The majority of APL patients present with the classic PML-RARA translocation. However, approximately 5% of patients with APL have a non- characteristic translocation. Other chimeric proteins have been observed including PLZF-RARA, NUMA1-RARA, and so on.",,"PML-RARA (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5371"">5371</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5914"">5914</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10054"">K10054</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08527"">K08527</a>]
 PLZF-RARA (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7704"">7704</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10055"">K10055</a>]
 NUMA1-RARA (translocation) [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4926"">4926</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K16808"">K16808</a>]",,,,,,"ICD-11: 2A60.0
 ICD-10: C92.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015473"">D015473</a>
 OMIM: <a href=""https://www.omim.org/entry/612376"">612376</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32215187"">32215187</a>
 著者        Jimenez JJ, Chale RS, Abad AC, Schally AV
 タイトル      Acute promyelocytic leukemia (APL): a review of the literature.
 雑誌        Oncotarget 11:992-1003 (2020)
 DOI:<a href=""https://doi.org/10.18632/oncotarget.27513"">10.18632/oncotarget.27513</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18299451"">18299451</a>
 著者        Wang ZY, Chen Z
 タイトル      Acute promyelocytic leukemia: from highly fatal to highly curable.
 雑誌        Blood 111:2505-15 (2008)
 DOI:<a href=""https://doi.org/10.1182/blood-2007-07-102798"">10.1182/blood-2007-07-102798</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8387545"">8387545</a>
 著者        Chen SJ, Zelent A, Tong JH, Yu HQ, Wang ZY, Derre J, Berger R, Waxman S, Chen Z
 タイトル      Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia.
 雑誌        J Clin Invest 91:2260-7 (1993)
 DOI:<a href=""https://doi.org/10.1172/JCI116453"">10.1172/JCI116453</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9288109"">9288109</a>
 著者        Wells RA, Catzavelos C, Kamel-Reid S
 タイトル      Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.
 雑誌        Nat Genet 17:109-13 (1997)
 DOI:<a href=""https://doi.org/10.1038/ng0997-109"">10.1038/ng0997-109</a>"
H02543,"遠位中間肢異形成症
 下位グループ    Maroteaux 型遠位中間肢異形成症 (AMD1) [DS:H00470]
 Grebe 型異形成症 (AMD2) [DS:H00466]
 Du Pan症候群 (AMD2B) [DS:H00467]
 Demirhan 型異形成症 (AMD3) [DS:H00468]",,,"Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.",先天奇形,,"(AMD1) NPR2 [HSA:4882] [KO:K12324]
 (AMD2) GDF5 [HSA:8200] [KO:K04664]
 (AMD3) BMPR1B [HSA:658] [KO:K13578]
 (AMD4) PRKG2 [HSA:5593] [KO:K19477]",,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 OMIM: 602875 200700 228900 201250 609441 619636","PMID:26926249 (AMD1-3)
 著者        Khan S, Basit S, Khan MA, Muhammad N, Ahmad W
 タイトル      Genetics of human isolated acromesomelic dysplasia.
 雑誌        Eur J Med Genet 59:198-203 (2016)
 DOI:10.1016/j.ejmg.2016.02.011
 PMID:33106379 (AMD4)
 著者        Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE
 タイトル      Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
 雑誌        J Med Genet jmedgenet-2020-107177 (2020)
 DOI:10.1136/jmedgenet-2020-107177","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02543"">H02543</a>","遠位中間肢異形成症
 下位グループ    Maroteaux 型遠位中間肢異形成症 (AMD1) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00470"">H00470</a>]
 Grebe 型異形成症 (AMD2) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00466"">H00466</a>]
 Du Pan症候群 (AMD2B) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00467"">H00467</a>]
 Demirhan 型異形成症 (AMD3) [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00468"">H00468</a>]","Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.",,"(AMD1) NPR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4882"">4882</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12324"">K12324</a>]
 (AMD2) GDF5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8200"">8200</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04664"">K04664</a>]
 (AMD3) BMPR1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:658"">658</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13578"">K13578</a>]
 (AMD4) PRKG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5593"">5593</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19477"">K19477</a>]",,,,,,"ICD-11: LD24.9
 ICD-10: Q77.8
 OMIM: <a href=""https://www.omim.org/entry/602875"">602875</a> <a href=""https://www.omim.org/entry/200700"">200700</a> <a href=""https://www.omim.org/entry/228900"">228900</a> <a href=""https://www.omim.org/entry/201250"">201250</a> <a href=""https://www.omim.org/entry/609441"">609441</a> <a href=""https://www.omim.org/entry/619636"">619636</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26926249"">26926249</a> (AMD1-3)
 著者        Khan S, Basit S, Khan MA, Muhammad N, Ahmad W
 タイトル      Genetics of human isolated acromesomelic dysplasia.
 雑誌        Eur J Med Genet 59:198-203 (2016)
 DOI:<a href=""https://doi.org/10.1016/j.ejmg.2016.02.011"">10.1016/j.ejmg.2016.02.011</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33106379"">33106379</a> (AMD4)
 著者        Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE
 タイトル      Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
 雑誌        J Med Genet jmedgenet-2020-107177 (2020)
 DOI:<a href=""https://doi.org/10.1136/jmedgenet-2020-107177"">10.1136/jmedgenet-2020-107177</a>"
H02544,"リボフラビン欠乏症
 下位グループ    Brown-Vialetto-Van Laere 症候群 [DS:H01903]",,,"Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations in the riboflavin metabolism or transportation of riboflavin can cause multiple acyl-CoA dehydrogenation deficiency [DS:H00178]. The most common variations are located in the riboflavin transporter 2 (RFVT2) and 3 (RFVT3), that are highly expressed in brain and intestinal tissues, respectively [DS:H01903]. Deficiency of RFVT1, encoded by the SLC52A1 gene, highly expressed in the placenta, has also been reported.",内分泌代謝疾患,,SLC52A1 [HSA:55065] [KO:K22117],,,,,,"ICD-11: 5B5B
 ICD-10: E53.0
 MeSH: D012257
 OMIM: 615026","PMID:29122468
 著者        Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS
 タイトル      An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
 雑誌        Mol Genet Metab 122:182-188 (2017)
 DOI:10.1016/j.ymgme.2017.10.014
 PMID:32481712
 著者        Mosegaard S, Dipace G, Bross P, Carlsen J, Gregersen N, Olsen RKJ
 タイトル      Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
 雑誌        Int J Mol Sci 21:E3847 (2020)
 DOI:10.3390/ijms21113847","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02544"">H02544</a>","リボフラビン欠乏症
 下位グループ    Brown-Vialetto-Van Laere 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01903"">H01903</a>]","Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations in the riboflavin metabolism or transportation of riboflavin can cause multiple acyl-CoA dehydrogenation deficiency [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00178]."">H00178].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:The"">The</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:most"">most</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:common"">common</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:variations"">variations</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:located"">located</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:riboflavin"">riboflavin</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:transporter"">transporter</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:2"">2</a> (RFVT2) <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:3"">3</a> (RFVT3), <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:that"">that</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:are"">are</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:highly"">highly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:expressed"">expressed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:brain"">brain</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:and"">and</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:intestinal"">intestinal</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:tissues,"">tissues,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:respectively"">respectively</a> [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01903]."">H01903].</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:Deficiency"">Deficiency</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:of"">of</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:RFVT1,"">RFVT1,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:encoded"">encoded</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:by"">by</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:SLC52A1"">SLC52A1</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:gene,"">gene,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:highly"">highly</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:expressed"">expressed</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:in"">in</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:the"">the</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:placenta,"">placenta,</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:has"">has</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:also"">also</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:been"">been</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:reported."">reported.</a>",,"SLC52A1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55065"">55065</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22117"">K22117</a>]",,,,,,"ICD-11: 5B5B
 ICD-10: E53.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D012257"">D012257</a>
 OMIM: <a href=""https://www.omim.org/entry/615026"">615026</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29122468"">29122468</a>
 著者        Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS
 タイトル      An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
 雑誌        Mol Genet Metab 122:182-188 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2017.10.014"">10.1016/j.ymgme.2017.10.014</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32481712"">32481712</a>
 著者        Mosegaard S, Dipace G, Bross P, Carlsen J, Gregersen N, Olsen RKJ
 タイトル      Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
 雑誌        Int J Mol Sci 21:E3847 (2020)
 DOI:<a href=""https://doi.org/10.3390/ijms21113847"">10.3390/ijms21113847</a>"
H02545,高トリプトファン血症,,,"Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported.",先天性代謝異常症,,TDO2 [HSA:6999] [KO:K00453],,,,,,"ICD-11: 5C50.3
 ICD-10: E70.8
 MeSH: D000592
 OMIM: 600627","PMID:28285122
 著者        Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A
 タイトル      Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
 雑誌        Mol Genet Metab 120:317-324 (2017)
 DOI:10.1016/j.ymgme.2017.02.009
 PMID:6883719
 著者        Snedden W, Mellor CS, Martin JR
 タイトル      Familial hypertryptophanemia, tryptophanuria and indoleketonuria.
 雑誌        Clin Chim Acta 131:247-56 (1983)
 DOI:10.1016/0009-8981(83)90094-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02545"">H02545</a>",高トリプトファン血症,"Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported.",,"TDO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6999"">6999</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00453"">K00453</a>]",,,,,,"ICD-11: 5C50.3
 ICD-10: E70.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000592"">D000592</a>
 OMIM: <a href=""https://www.omim.org/entry/600627"">600627</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28285122"">28285122</a>
 著者        Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A
 タイトル      Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
 雑誌        Mol Genet Metab 120:317-324 (2017)
 DOI:<a href=""https://doi.org/10.1016/j.ymgme.2017.02.009"">10.1016/j.ymgme.2017.02.009</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/6883719"">6883719</a>
 著者        Snedden W, Mellor CS, Martin JR
 タイトル      Familial hypertryptophanemia, tryptophanuria and indoleketonuria.
 雑誌        Clin Chim Acta 131:247-56 (1983)
 DOI:<a href=""https://doi.org/10.1016/0009-8981(83)90094-3"">10.1016/0009-8981(83)90094-3</a>"
H02546,高バリン血症および高ロイシン・イソロイシン血症,,,"Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in a distinctive biochemical profile with raised plasma BCAA levels, and may be associated with developmental delay and autism spectrum disorder in some cases. However, its phenotype appears to be extremely variable.",先天性代謝異常症,,BCAT2 [HSA:587] [KO:K00826],,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: D000592
 OMIM: 618850","PMID:25653144
 著者        Wang XL, Li CJ, Xing Y, Yang YH, Jia JP
 タイトル      Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
 雑誌        J Inherit Metab Dis 38:855-61 (2015)
 DOI:10.1007/s10545-015-9814-z
 PMID:28417264
 著者        Sperringer JE, Addington A, Hutson SM
 タイトル      Branched-Chain Amino Acids and Brain Metabolism.
 雑誌        Neurochem Res 42:1697-1709 (2017)
 DOI:10.1007/s11064-017-2261-5
 PMID:31177572
 著者        Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Perez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodriguez-Pombo P, Olpin SE, Banka S
 タイトル      Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
 雑誌        J Inherit Metab Dis 42:809-817 (2019)
 DOI:10.1002/jimd.12135","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02546"">H02546</a>",高バリン血症および高ロイシン・イソロイシン血症,"Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in a distinctive biochemical profile with raised plasma BCAA levels, and may be associated with developmental delay and autism spectrum disorder in some cases. However, its phenotype appears to be extremely variable.",,"BCAT2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:587"">587</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00826"">K00826</a>]",,,,,,"ICD-11: 5C50.DY
 ICD-10: E71.1
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D000592"">D000592</a>
 OMIM: <a href=""https://www.omim.org/entry/618850"">618850</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25653144"">25653144</a>
 著者        Wang XL, Li CJ, Xing Y, Yang YH, Jia JP
 タイトル      Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
 雑誌        J Inherit Metab Dis 38:855-61 (2015)
 DOI:<a href=""https://doi.org/10.1007/s10545-015-9814-z"">10.1007/s10545-015-9814-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28417264"">28417264</a>
 著者        Sperringer JE, Addington A, Hutson SM
 タイトル      Branched-Chain Amino Acids and Brain Metabolism.
 雑誌        Neurochem Res 42:1697-1709 (2017)
 DOI:<a href=""https://doi.org/10.1007/s11064-017-2261-5"">10.1007/s11064-017-2261-5</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31177572"">31177572</a>
 著者        Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Perez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodriguez-Pombo P, Olpin SE, Banka S
 タイトル      Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
 雑誌        J Inherit Metab Dis 42:809-817 (2019)
 DOI:<a href=""https://doi.org/10.1002/jimd.12135"">10.1002/jimd.12135</a>"
H02547,BRENS 症候群,,,"Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein.",先天奇形,,TTC26 [HSA:79989] [KO:K19685],,,,,,"ICD-11: LD2F.Y
 OMIM: 619534","PMID:34177428
 著者        Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M
 タイトル      Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
 雑誌        Mol Syndromol 12:133-140 (2021)
 DOI:10.1159/000513829
 PMID:24596149
 著者        Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF
 タイトル      TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
 雑誌        Elife 3:e01566 (2014)
 DOI:10.7554/eLife.01566","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02547"">H02547</a>",BRENS 症候群,"Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein.",,"TTC26 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79989"">79989</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K19685"">K19685</a>]",,,,,,"ICD-11: LD2F.Y
 OMIM: <a href=""https://www.omim.org/entry/619534"">619534</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34177428"">34177428</a>
 著者        Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M
 タイトル      Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
 雑誌        Mol Syndromol 12:133-140 (2021)
 DOI:<a href=""https://doi.org/10.1159/000513829"">10.1159/000513829</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24596149"">24596149</a>
 著者        Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF
 タイトル      TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
 雑誌        Elife 3:e01566 (2014)
 DOI:<a href=""https://doi.org/10.7554/eLife.01566"">10.7554/eLife.01566</a>"
H02548,CIMDAG 症候群,,,"CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. CIMDAG syndrome is caused by mutations in VPS4A, a critical enzyme regulating ESCRT function.",先天奇形,,VPS4A [HSA:27183] [KO:K12196],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: 619273","PMID:33186543
 著者        Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA
 タイトル      VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
 雑誌        Am J Hum Genet 107:1149-1156 (2020)
 DOI:10.1016/j.ajhg.2020.10.013
 PMID:33186545
 著者        Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A, Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E
 タイトル      De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
 雑誌        Am J Hum Genet 107:1129-1148 (2020)
 DOI:10.1016/j.ajhg.2020.10.012","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02548"">H02548</a>",CIMDAG 症候群,"CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. CIMDAG syndrome is caused by mutations in VPS4A, a critical enzyme regulating ESCRT function.",,"VPS4A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27183"">27183</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12196"">K12196</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/619273"">619273</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33186543"">33186543</a>
 著者        Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA
 タイトル      VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
 雑誌        Am J Hum Genet 107:1149-1156 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.10.013"">10.1016/j.ajhg.2020.10.013</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33186545"">33186545</a>
 著者        Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A, Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E
 タイトル      De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
 雑誌        Am J Hum Genet 107:1129-1148 (2020)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2020.10.012"">10.1016/j.ajhg.2020.10.012</a>"
H02549,小脳失調・脳奇形及び心伝導障害,,,"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural subunit of the RNA exosome.",先天奇形,,EXOSC5 [HSA:56915] [KO:K12590],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: 619576","PMID:32504085
 著者        Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH
 タイトル      Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
 雑誌        Hum Mol Genet 29:2218-2239 (2020)
 DOI:10.1093/hmg/ddaa108
 PMID:34676290
 著者        de Amorim J, Slavotinek A, Fasken MB, Corbett AH, Morton DJ
 タイトル      Modeling Pathogenic Variants in the RNA Exosome.
 雑誌        RNA Dis 7:e1166 (2020)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02549"">H02549</a>",小脳失調・脳奇形及び心伝導障害,"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural subunit of the RNA exosome.",,"EXOSC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:56915"">56915</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12590"">K12590</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.8
 OMIM: <a href=""https://www.omim.org/entry/619576"">619576</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32504085"">32504085</a>
 著者        Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH
 タイトル      Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
 雑誌        Hum Mol Genet 29:2218-2239 (2020)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddaa108"">10.1093/hmg/ddaa108</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34676290"">34676290</a>
 著者        de Amorim J, Slavotinek A, Fasken MB, Corbett AH, Morton DJ
 タイトル      Modeling Pathogenic Variants in the RNA Exosome.
 雑誌        RNA Dis 7:e1166 (2020)"
H02550,Birk-Landau-Perez 症候群,,,Birk-Landau-Perez syndrome (BILAPES) is a novel autosomal recessive cerebro-renal syndrome characterized by early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested that SLC30A9 mutation affecting intracellular zinc homeostasis causes this disease. SLC30A9 encodes a putative zinc transporter.,先天性代謝異常症,,SLC30A9 [HSA:10463] [KO:K14696],,,,,,"ICD-11: 5C64.2Y
 ICD-10: E83.2
 OMIM: 617595","PMID:28334855
 著者        Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS
 タイトル      SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
 雑誌        Brain 140:928-939 (2017)
 DOI:10.1093/brain/awx013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02550"">H02550</a>",Birk-Landau-Perez 症候群,Birk-Landau-Perez syndrome (BILAPES) is a novel autosomal recessive cerebro-renal syndrome characterized by early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested that SLC30A9 mutation affecting intracellular zinc homeostasis causes this disease. SLC30A9 encodes a putative zinc transporter.,,"SLC30A9 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10463"">10463</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14696"">K14696</a>]",,,,,,"ICD-11: 5C64.2Y
 ICD-10: E83.2
 OMIM: <a href=""https://www.omim.org/entry/617595"">617595</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28334855"">28334855</a>
 著者        Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS
 タイトル      SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
 雑誌        Brain 140:928-939 (2017)
 DOI:<a href=""https://doi.org/10.1093/brain/awx013"">10.1093/brain/awx013</a>"
H02551,関節弛緩と骨年齢亢進を伴う骨異形成症,,,Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis of sulfated glycosaminoglycans chondroitin and dermatan sulfate.,先天性代謝異常症; 先天奇形,,CSGALNACT1 [HSA:55790] [KO:K00746],,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: 618870","PMID:31325655
 著者        Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M
 タイトル      Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
 雑誌        Bone 127:446-451 (2019)
 DOI:10.1016/j.bone.2019.07.016
 PMID:31705726
 著者        Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J
 タイトル      CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
 雑誌        Hum Mutat 41:655-667 (2020)
 DOI:10.1002/humu.23952","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02551"">H02551</a>",関節弛緩と骨年齢亢進を伴う骨異形成症,Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis of sulfated glycosaminoglycans chondroitin and dermatan sulfate.,,"CSGALNACT1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55790"">55790</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00746"">K00746</a>]",,,,,,"ICD-11: LD24.Y
 ICD-10: Q78.8
 OMIM: <a href=""https://www.omim.org/entry/618870"">618870</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31325655"">31325655</a>
 著者        Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M
 タイトル      Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
 雑誌        Bone 127:446-451 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.bone.2019.07.016"">10.1016/j.bone.2019.07.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31705726"">31705726</a>
 著者        Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J
 タイトル      CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
 雑誌        Hum Mutat 41:655-667 (2020)
 DOI:<a href=""https://doi.org/10.1002/humu.23952"">10.1002/humu.23952</a>"
H02552,運動失調・企図振戦および筋緊張低下症候群,,,"Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is expressed in the developing nervous system.",神経系疾患,,POU4F1 [HSA:5457] [KO:K09366],,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: 619352","PMID:33783914
 著者        Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE
 タイトル      Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
 雑誌        Hum Mutat 42:685-693 (2021)
 DOI:10.1002/humu.24201
 PMID:8876243
 著者        Xiang M, Gan L, Zhou L, Klein WH, Nathans J
 タイトル      Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling.
 雑誌        Proc Natl Acad Sci U S A 93:11950-5 (1996)
 DOI:10.1073/pnas.93.21.11950","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02552"">H02552</a>",運動失調・企図振戦および筋緊張低下症候群,"Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is expressed in the developing nervous system.",,"POU4F1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5457"">5457</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09366"">K09366</a>]",,,,,,"ICD-11: 8A03.1Y
 ICD-10: G11.8
 OMIM: <a href=""https://www.omim.org/entry/619352"">619352</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33783914"">33783914</a>
 著者        Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE
 タイトル      Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
 雑誌        Hum Mutat 42:685-693 (2021)
 DOI:<a href=""https://doi.org/10.1002/humu.24201"">10.1002/humu.24201</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8876243"">8876243</a>
 著者        Xiang M, Gan L, Zhou L, Klein WH, Nathans J
 タイトル      Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling.
 雑誌        Proc Natl Acad Sci U S A 93:11950-5 (1996)
 DOI:<a href=""https://doi.org/10.1073/pnas.93.21.11950"">10.1073/pnas.93.21.11950</a>"
H02553,腹部ミオパチー,,,"Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. VSCM is most commonly caused by mutations in contractile apparatus cytoskeletal proteins.",先天奇形,,"(VSCM1) ACTG2 [HSA:72] [KO:K12315]
 (VSCM2) MYH11 [HSA:4629] [KO:K10352]",,,,,,"ICD-11: DA90.2
 MeSH: D007418
 OMIM: 155310 619350","PMID:22960657 (VSCM1)
 著者        Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
 タイトル      Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
 雑誌        Gastroenterology 143:1482-1491.e3 (2012)
 DOI:10.1053/j.gastro.2012.08.045
 PMID:31389005 (VSCM2)
 著者        Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A
 タイトル      Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
 雑誌        Clin Genet 96:473-477 (2019)
 DOI:10.1111/cge.13617
 PMID:33729000
 著者        Hashmi SK, Ceron RH, Heuckeroth RO
 タイトル      Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
 雑誌        Am J Physiol Gastrointest Liver Physiol 320:G919-G935 (2021)
 DOI:10.1152/ajpgi.00066.2021","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02553"">H02553</a>",腹部ミオパチー,"Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. VSCM is most commonly caused by mutations in contractile apparatus cytoskeletal proteins.",,"(VSCM1) ACTG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:72"">72</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12315"">K12315</a>]
 (VSCM2) MYH11 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4629"">4629</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10352"">K10352</a>]",,,,,,"ICD-11: DA90.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D007418"">D007418</a>
 OMIM: <a href=""https://www.omim.org/entry/155310"">155310</a> <a href=""https://www.omim.org/entry/619350"">619350</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22960657"">22960657</a> (VSCM1)
 著者        Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
 タイトル      Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
 雑誌        Gastroenterology 143:1482-1491.e3 (2012)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2012.08.045"">10.1053/j.gastro.2012.08.045</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31389005"">31389005</a> (VSCM2)
 著者        Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A
 タイトル      Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
 雑誌        Clin Genet 96:473-477 (2019)
 DOI:<a href=""https://doi.org/10.1111/cge.13617"">10.1111/cge.13617</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33729000"">33729000</a>
 著者        Hashmi SK, Ceron RH, Heuckeroth RO
 タイトル      Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
 雑誌        Am J Physiol Gastrointest Liver Physiol 320:G919-G935 (2021)
 DOI:<a href=""https://doi.org/10.1152/ajpgi.00066.2021"">10.1152/ajpgi.00066.2021</a>"
H02554,"Omenn 症候群
 上位グループ    T-B- 重症複合免疫不全症 [DS:H00092]
 獲得免疫の障害 [DS:H02526]
 原発性免疫不全症 [DS:H01725]",,,"Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS (DCLRE1C) mutations has also been reported.",免疫系疾患,,"RAG1 [HSA:5896] [KO:K10628]
 RAG2 [HSA:5897] [KO:K10988]
 DCLRE1C [HSA:64421] [KO:K10887]",,,,,,"ICD-11: 4A01.10
 ICD-10: D84.8
 MeSH: D016511
 OMIM: 603554","PMID:10226883 (RAG1, RAG2)
 著者        Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD
 タイトル      Omenn syndrome: a disorder of Rag1 and Rag2 genes.
 雑誌        J Clin Immunol 19:87-97 (1999)
 DOI:10.1023/a:1020550432126
 PMID:26996199 (RAG1, RAG2)
 著者        Notarangelo LD, Kim MS, Walter JE, Lee YN
 タイトル      Human RAG mutations: biochemistry and clinical implications.
 雑誌        Nat Rev Immunol 16:234-46 (2016)
 DOI:10.1038/nri.2016.28
 PMID:15731174 (DCLRE1C)
 著者        Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U
 タイトル      Omenn syndrome due to ARTEMIS mutations.
 雑誌        Blood 105:4179-86 (2005)
 DOI:10.1182/blood-2004-12-4861","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02554"">H02554</a>","Omenn 症候群
 上位グループ    T-B- 重症複合免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00092"">H00092</a>]
 獲得免疫の障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02526"">H02526</a>]
 原発性免疫不全症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01725"">H01725</a>]","Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS (DCLRE1C) mutations has also been reported.",,"RAG1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5896"">5896</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10628"">K10628</a>]
 RAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5897"">5897</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10988"">K10988</a>]
 DCLRE1C [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:64421"">64421</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10887"">K10887</a>]",,,,,,"ICD-11: 4A01.10
 ICD-10: D84.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016511"">D016511</a>
 OMIM: <a href=""https://www.omim.org/entry/603554"">603554</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10226883"">10226883</a> (RAG1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RAG2)"">RAG2)</a>
 著者        Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD
 タイトル      Omenn syndrome: a disorder of Rag1 and Rag2 genes.
 雑誌        J Clin Immunol 19:87-97 (1999)
 DOI:<a href=""https://doi.org/10.1023/a:"">10.1023/a:</a><a href=""https://doi.org/1020550432126"">1020550432126</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26996199"">26996199</a> (RAG1, <a href=""https://pubmed.ncbi.nlm.nih.gov/RAG2)"">RAG2)</a>
 著者        Notarangelo LD, Kim MS, Walter JE, Lee YN
 タイトル      Human RAG mutations: biochemistry and clinical implications.
 雑誌        Nat Rev Immunol 16:234-46 (2016)
 DOI:<a href=""https://doi.org/10.1038/nri.2016.28"">10.1038/nri.2016.28</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15731174"">15731174</a> (DCLRE1C)
 著者        Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U
 タイトル      Omenn syndrome due to ARTEMIS mutations.
 雑誌        Blood 105:4179-86 (2005)
 DOI:<a href=""https://doi.org/10.1182/blood-2004-12-4861"">10.1182/blood-2004-12-4861</a>"
H02555,"マックル-ウェルズ症候群
 上位グループ    クリオピリン関連周期熱症候群 [DS:H00282]",,,"Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS).",免疫系疾患,,NLRP3 [HSA:114548] [KO:K12800],,,,,,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: D056587
 OMIM: 191900","PMID:32246440
 著者        Azevedo SRL, Peixoto DFM
 タイトル      Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family.
 雑誌        World J Pediatr 16:541-542 (2020)
 DOI:10.1007/s12519-020-00358-0
 PMID:23440695
 著者        Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM
 タイトル      Hearing loss in Muckle-Wells syndrome.
 雑誌        Arthritis Rheum 65:824-31 (2013)
 DOI:10.1002/art.37810
 PMID:22146561
 著者        Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM
 タイトル      NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
 雑誌        Arthritis Res Ther 13:R196 (2011)
 DOI:10.1186/ar3526","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02555"">H02555</a>","マックル-ウェルズ症候群
 上位グループ    クリオピリン関連周期熱症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00282"">H00282</a>]","Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS).",,"NLRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]",,,,,,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056587"">D056587</a>
 OMIM: <a href=""https://www.omim.org/entry/191900"">191900</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32246440"">32246440</a>
 著者        Azevedo SRL, Peixoto DFM
 タイトル      Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family.
 雑誌        World J Pediatr 16:541-542 (2020)
 DOI:<a href=""https://doi.org/10.1007/s12519-020-00358-0"">10.1007/s12519-020-00358-0</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/23440695"">23440695</a>
 著者        Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM
 タイトル      Hearing loss in Muckle-Wells syndrome.
 雑誌        Arthritis Rheum 65:824-31 (2013)
 DOI:<a href=""https://doi.org/10.1002/art.37810"">10.1002/art.37810</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22146561"">22146561</a>
 著者        Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM
 タイトル      NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
 雑誌        Arthritis Res Ther 13:R196 (2011)
 DOI:<a href=""https://doi.org/10.1186/ar3526"">10.1186/ar3526</a>"
H02556,"CINCA 症候群;
 慢性乳児神経皮膚関節炎症候群
 下位グループ    新生児発症多臓器炎症性疾患
 上位グループ    クリオピリン関連周期熱症候群 [DS:H00282]",,,"Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS).",免疫系疾患,,NLRP3 [HSA:114548] [KO:K12800],,,,,,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: D056587
 OMIM: 607115","PMID:27927236
 著者        Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M
 タイトル      Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.
 雑誌        Orphanet J Rare Dis 11:167 (2016)
 DOI:10.1186/s13023-016-0542-8
 PMID:12032915 (NLRP3)
 著者        Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G
 タイトル      Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
 雑誌        Am J Hum Genet 71:198-203 (2002)
 DOI:10.1086/341357","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02556"">H02556</a>","CINCA 症候群;
 慢性乳児神経皮膚関節炎症候群
 下位グループ    新生児発症多臓器炎症性疾患
 上位グループ    クリオピリン関連周期熱症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00282"">H00282</a>]","Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS).",,"NLRP3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:114548"">114548</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K12800"">K12800</a>]",,,,,,"ICD-11: 4A60.1
 ICD-10: E85.0
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D056587"">D056587</a>
 OMIM: <a href=""https://www.omim.org/entry/607115"">607115</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/27927236"">27927236</a>
 著者        Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M
 タイトル      Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.
 雑誌        Orphanet J Rare Dis 11:167 (2016)
 DOI:<a href=""https://doi.org/10.1186/s13023-016-0542-8"">10.1186/s13023-016-0542-8</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12032915"">12032915</a> (NLRP3)
 著者        Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G
 タイトル      Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
 雑誌        Am J Hum Genet 71:198-203 (2002)
 DOI:<a href=""https://doi.org/10.1086/341357"">10.1086/341357</a>"
H02557,"ドーパ反応性ジストニア
 下位グループ    瀬川病 (DYT5)
 セピアプテリン還元酵素欠損症 (SRD)
 上位グループ    遺伝性ジストニア [DS:H00831]",,,Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa treatment. DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine. The most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa syndrome).,神経系疾患,,"(DYT5a) GCH1 [HSA:2643] [KO:K01495]
 (DYT5b) TH [HSA:7054] [KO:K00501]
 (SRD) SPR [HSA:6697] [KO:K00072]",,,,,,"ICD-11: 8A02.11
 ICD-10: G24.1
 MeSH: C538007
 OMIM: 128230 605407 612716","PMID:26100751
 著者        Wijemanne S, Jankovic J
 タイトル      Dopa-responsive dystonia--clinical and genetic heterogeneity.
 雑誌        Nat Rev Neurol 11:414-24 (2015)
 DOI:10.1038/nrneurol.2015.86
 PMID:19292934 (GCH1)
 著者        Segawa M
 タイトル      Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
 雑誌        Chang Gung Med J 32:1-11 (2009)
 PMID:7814018 (TH)
 著者        Ludecke B, Dworniczak B, Bartholome K
 タイトル      A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
 雑誌        Hum Genet 95:123-5 (1995)
 DOI:10.1007/BF00225091
 PMID:11443547 (SPR)
 著者        Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N
 タイトル      Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
 雑誌        Am J Hum Genet 69:269-77 (2001)
 DOI:10.1086/321970","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02557"">H02557</a>","ドーパ反応性ジストニア
 下位グループ    瀬川病 (DYT5)
 セピアプテリン還元酵素欠損症 (SRD)
 上位グループ    遺伝性ジストニア [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00831"">H00831</a>]",Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa treatment. DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine. The most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa syndrome).,,"(DYT5a) GCH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2643"">2643</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01495"">K01495</a>]
 (DYT5b) TH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7054"">7054</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00501"">K00501</a>]
 (SRD) SPR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6697"">6697</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00072"">K00072</a>]",,,,,,"ICD-11: 8A02.11
 ICD-10: G24.1
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C538007"">C538007</a>
 OMIM: <a href=""https://www.omim.org/entry/128230"">128230</a> <a href=""https://www.omim.org/entry/605407"">605407</a> <a href=""https://www.omim.org/entry/612716"">612716</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26100751"">26100751</a>
 著者        Wijemanne S, Jankovic J
 タイトル      Dopa-responsive dystonia--clinical and genetic heterogeneity.
 雑誌        Nat Rev Neurol 11:414-24 (2015)
 DOI:<a href=""https://doi.org/10.1038/nrneurol.2015.86"">10.1038/nrneurol.2015.86</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19292934"">19292934</a> (GCH1)
 著者        Segawa M
 タイトル      Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
 雑誌        Chang Gung Med J 32:1-11 (2009)
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7814018"">7814018</a> (TH)
 著者        Ludecke B, Dworniczak B, Bartholome K
 タイトル      A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
 雑誌        Hum Genet 95:123-5 (1995)
 DOI:<a href=""https://doi.org/10.1007/BF00225091"">10.1007/BF00225091</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11443547"">11443547</a> (SPR)
 著者        Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N
 タイトル      Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
 雑誌        Am J Hum Genet 69:269-77 (2001)
 DOI:<a href=""https://doi.org/10.1086/321970"">10.1086/321970</a>"
H02558,Ikegawa 型頭蓋管状骨異形成症,,,"Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 causes CTDI by dysregulation of BMP-SMAD signaling.",先天奇形,,TMEM53 [HSA:79639],,,,,,"ICD-11: LD24.2Y
 ICD-10: Q75.8
 OMIM: 619727","PMID:33824347
 著者        Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S
 タイトル      Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
 雑誌        Nat Commun 12:2046 (2021)
 DOI:10.1038/s41467-021-22340-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02558"">H02558</a>",Ikegawa 型頭蓋管状骨異形成症,"Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 causes CTDI by dysregulation of BMP-SMAD signaling.",,"TMEM53 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:79639"">79639</a>]",,,,,,"ICD-11: LD24.2Y
 ICD-10: Q75.8
 OMIM: <a href=""https://www.omim.org/entry/619727"">619727</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33824347"">33824347</a>
 著者        Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S
 タイトル      Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
 雑誌        Nat Commun 12:2046 (2021)
 DOI:<a href=""https://doi.org/10.1038/s41467-021-22340-8"">10.1038/s41467-021-22340-8</a>"
H02559,"糖尿病性細小血管合併症
 下位グループ    糖尿病性腎症 [DS:H01456]
 糖尿病性網膜症 [DS:H01457]
 糖尿病性神経障害 [DS:H01459]",,,"Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy, and neuropathy.",内分泌代謝疾患,,"(MVCD1) VEGFA [HSA:7422] [KO:K05448]
 (MVCD2) EPO [HSA:2056] [KO:K05437]
 (MVCD3) ACE [HSA:1636] [KO:K01283]
 (MVCD4) IL1RN [HSA:3557] [KO:K05481]
 (MVCD5) PON1 [HSA:5444] [KO:K01045]
 (MVCD6) SOD2 [HSA:6648] [KO:K04564]
 (MVCD7) HFE [HSA:3077]",,,,,,"ICD-11: GB61.Z 9B71.0 8C03.0
 ICD-10: E14.2 E14.3 E14.4
 MeSH: D003928 D003930 D003929
 OMIM: 603933 612623 612624 612628 612633 612634 612635","PMID:15053904
 著者        He Z, King GL
 タイトル      Microvascular complications of diabetes.
 雑誌        Endocrinol Metab Clin North Am 33:215-38, xi-xii (2004)
 DOI:10.1016/j.ecl.2003.12.003
 PMID:30816322
 著者        Li J, Cao Y, Liu W, Wang Q, Qian Y, Lu P
 タイトル      Correlations among Diabetic Microvascular Complications: A Systematic Review and Meta-analysis.
 雑誌        Sci Rep 9:3137 (2019)
 DOI:10.1038/s41598-019-40049-z
 PMID:11978667 (MVCD1)
 著者        Awata T, Inoue K, Kurihara S, Ohkubo T, Watanabe M, Inukai K, Inoue I, Katayama S
 タイトル      A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes.
 雑誌        Diabetes 51:1635-9 (2002)
 DOI:10.2337/diabetes.51.5.1635
 PMID:18458324 (MVCD2)
 著者        Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K
 タイトル      Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.
 雑誌        Proc Natl Acad Sci U S A 105:6998-7003 (2008)
 DOI:10.1073/pnas.0800454105
 PMID:9120002 (MVCD3)
 著者        Marre M, Jeunemaitre X, Gallois Y, Rodier M, Chatellier G, Sert C, Dusselier L, Kahal Z, Chaillous L, Halimi S, Muller A, Sackmann H, Bauduceau B, Bled F, Passa P, Alhenc-Gelas F
 タイトル      Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: Genetique de la Nephropathie Diabetique (GENEDIAB) study group.
 雑誌        J Clin Invest 99:1585-95 (1997)
 DOI:10.1172/JCI119321
 PMID:8786086 (MVCD4)
 著者        Blakemore AI, Cox A, Gonzalez AM, Maskil JK, Hughes ME, Wilson RM, Ward JD, Duff GW
 タイトル      Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus.
 雑誌        Hum Genet 97:369-74 (1996)
 DOI:10.1007/BF02185776
 PMID:9661650 (MVCD5)
 著者        Kao YL, Donaghue K, Chan A, Knight J, Silink M
 タイトル      A variant of paraoxonase (PON1) gene is associated with diabetic retinopathy in IDDM.
 雑誌        J Clin Endocrinol Metab 83:2589-92 (1998)
 DOI:10.1210/jcem.83.7.5096
 PMID:12624725 (MVCD6)
 著者        Nomiyama T, Tanaka Y, Piao L, Nagasaka K, Sakai K, Ogihara T, Nakajima K, Watada H, Kawamori R
 タイトル      The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients.
 雑誌        J Hum Genet 48:138-41 (2003)
 DOI:10.1007/s100380300021
 PMID:14618419 (MVCD7)
 著者        Peterlin B, Globocnik Petrovic M, Makuc J, Hawlina M, Petrovic D
 タイトル      A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.
 雑誌        J Hum Genet 48:646-649 (2003)
 DOI:10.1007/s10038-003-0094-3","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02559"">H02559</a>","糖尿病性細小血管合併症
 下位グループ    糖尿病性腎症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01456"">H01456</a>]
 糖尿病性網膜症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01457"">H01457</a>]
 糖尿病性神経障害 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01459"">H01459</a>]","Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy, and neuropathy.",,"(MVCD1) VEGFA [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7422"">7422</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05448"">K05448</a>]
 (MVCD2) EPO [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2056"">2056</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05437"">K05437</a>]
 (MVCD3) ACE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1636"">1636</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01283"">K01283</a>]
 (MVCD4) IL1RN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3557"">3557</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05481"">K05481</a>]
 (MVCD5) PON1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5444"">5444</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01045"">K01045</a>]
 (MVCD6) SOD2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6648"">6648</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04564"">K04564</a>]
 (MVCD7) HFE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3077"">3077</a>]",,,,,,"ICD-11: GB61.Z 9B71.0 8C03.0
 ICD-10: E14.2 E14.3 E14.4
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003928"">D003928</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003930"">D003930</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003929"">D003929</a>
 OMIM: <a href=""https://www.omim.org/entry/603933"">603933</a> <a href=""https://www.omim.org/entry/612623"">612623</a> <a href=""https://www.omim.org/entry/612624"">612624</a> <a href=""https://www.omim.org/entry/612628"">612628</a> <a href=""https://www.omim.org/entry/612633"">612633</a> <a href=""https://www.omim.org/entry/612634"">612634</a> <a href=""https://www.omim.org/entry/612635"">612635</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15053904"">15053904</a>
 著者        He Z, King GL
 タイトル      Microvascular complications of diabetes.
 雑誌        Endocrinol Metab Clin North Am 33:215-38, xi-xii (2004)
 DOI:<a href=""https://doi.org/10.1016/j.ecl.2003.12.003"">10.1016/j.ecl.2003.12.003</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30816322"">30816322</a>
 著者        Li J, Cao Y, Liu W, Wang Q, Qian Y, Lu P
 タイトル      Correlations among Diabetic Microvascular Complications: A Systematic Review and Meta-analysis.
 雑誌        Sci Rep 9:3137 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41598-019-40049-z"">10.1038/s41598-019-40049-z</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11978667"">11978667</a> (MVCD1)
 著者        Awata T, Inoue K, Kurihara S, Ohkubo T, Watanabe M, Inukai K, Inoue I, Katayama S
 タイトル      A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes.
 雑誌        Diabetes 51:1635-9 (2002)
 DOI:<a href=""https://doi.org/10.2337/diabetes.51.5.1635"">10.2337/diabetes.51.5.1635</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18458324"">18458324</a> (MVCD2)
 著者        Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K
 タイトル      Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.
 雑誌        Proc Natl Acad Sci U S A 105:6998-7003 (2008)
 DOI:<a href=""https://doi.org/10.1073/pnas.0800454105"">10.1073/pnas.0800454105</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9120002"">9120002</a> (MVCD3)
 著者        Marre M, Jeunemaitre X, Gallois Y, Rodier M, Chatellier G, Sert C, Dusselier L, Kahal Z, Chaillous L, Halimi S, Muller A, Sackmann H, Bauduceau B, Bled F, Passa P, Alhenc-Gelas F
 タイトル      Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: Genetique de la Nephropathie Diabetique (GENEDIAB) study group.
 雑誌        J Clin Invest 99:1585-95 (1997)
 DOI:<a href=""https://doi.org/10.1172/JCI119321"">10.1172/JCI119321</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8786086"">8786086</a> (MVCD4)
 著者        Blakemore AI, Cox A, Gonzalez AM, Maskil JK, Hughes ME, Wilson RM, Ward JD, Duff GW
 タイトル      Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus.
 雑誌        Hum Genet 97:369-74 (1996)
 DOI:<a href=""https://doi.org/10.1007/BF02185776"">10.1007/BF02185776</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9661650"">9661650</a> (MVCD5)
 著者        Kao YL, Donaghue K, Chan A, Knight J, Silink M
 タイトル      A variant of paraoxonase (PON1) gene is associated with diabetic retinopathy in IDDM.
 雑誌        J Clin Endocrinol Metab 83:2589-92 (1998)
 DOI:<a href=""https://doi.org/10.1210/jcem.83.7.5096"">10.1210/jcem.83.7.5096</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12624725"">12624725</a> (MVCD6)
 著者        Nomiyama T, Tanaka Y, Piao L, Nagasaka K, Sakai K, Ogihara T, Nakajima K, Watada H, Kawamori R
 タイトル      The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients.
 雑誌        J Hum Genet 48:138-41 (2003)
 DOI:<a href=""https://doi.org/10.1007/s100380300021"">10.1007/s100380300021</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14618419"">14618419</a> (MVCD7)
 著者        Peterlin B, Globocnik Petrovic M, Makuc J, Hawlina M, Petrovic D
 タイトル      A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.
 雑誌        J Hum Genet 48:646-649 (2003)
 DOI:<a href=""https://doi.org/10.1007/s10038-003-0094-3"">10.1007/s10038-003-0094-3</a>"
H02560,"White-Kernohan 症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:H00403]",,,"White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease. DDB1 is part of the CUL4-DDB1 ubiquitin E3 ligase complex, which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction.",先天奇形,,DDB1 [HSA:1642] [KO:K10610],,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: 619426","PMID:33743206
 著者        White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD
 タイトル      A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
 雑誌        Am J Hum Genet 108:749-756 (2021)
 DOI:10.1016/j.ajhg.2021.03.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02560"">H02560</a>","White-Kernohan 症候群
 上位グループ    ヌクレオチド除去修復機構異常疾患 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00403"">H00403</a>]","White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease. DDB1 is part of the CUL4-DDB1 ubiquitin E3 ligase complex, which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction.",,"DDB1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:1642"">1642</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10610"">K10610</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/619426"">619426</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33743206"">33743206</a>
 著者        White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD
 タイトル      A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
 雑誌        Am J Hum Genet 108:749-756 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.03.007"">10.1016/j.ajhg.2021.03.007</a>"
H02561,免疫不全を伴う（または伴わない）家族性自己炎症症候群,,,"Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is an early onset autoimmune disease caused by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific autoimmunity. Some patients may have symptoms of systemic lupus erythematosus [DS: H00080], or lymphoproliferation.",免疫系疾患,,SOCS1 [HSA:8651] [KO:K04694],,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: 619375","PMID:33087723
 著者        Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F
 タイトル      Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
 雑誌        Nat Commun 11:5341 (2020)
 DOI:10.1038/s41467-020-18925-4
 PMID:10490099
 著者        Alexander WS, Starr R, Fenner JE, Scott CL, Handman E, Sprigg NS, Corbin JE, Cornish AL, Darwiche R, Owczarek CM, Kay TW, Nicola NA, Hertzog PJ, Metcalf D, Hilton DJ
 タイトル      SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine.
 雑誌        Cell 98:597-608 (1999)
 DOI:10.1016/s0092-8674(00)80047-1","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02561"">H02561</a>",免疫不全を伴う（または伴わない）家族性自己炎症症候群,"Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is an early onset autoimmune disease caused by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific autoimmunity. Some patients may have symptoms of systemic lupus erythematosus [DS: <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00080],"">H00080],</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:or"">or</a> <a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:lymphoproliferation."">lymphoproliferation.</a>",,"SOCS1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:8651"">8651</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04694"">K04694</a>]",,,,,,"ICD-11: 4A60.Y
 ICD-10: D89.8
 OMIM: <a href=""https://www.omim.org/entry/619375"">619375</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33087723"">33087723</a>
 著者        Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F
 タイトル      Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
 雑誌        Nat Commun 11:5341 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41467-020-18925-4"">10.1038/s41467-020-18925-4</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10490099"">10490099</a>
 著者        Alexander WS, Starr R, Fenner JE, Scott CL, Handman E, Sprigg NS, Corbin JE, Cornish AL, Darwiche R, Owczarek CM, Kay TW, Nicola NA, Hertzog PJ, Metcalf D, Hilton DJ
 タイトル      SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine.
 雑誌        Cell 98:597-608 (1999)
 DOI:<a href=""https://doi.org/10.1016/s0092-8674(00)80047-1"">10.1016/s0092-8674(00)80047-1</a>"
H02562,"Yoon-Bellen 神経発達症候群
 上位グループ    α ケトグルタル酸脱水素酵素複合体欠損症 [DS:H02006]
 TCA回路の異常 [DS:H01022]
 ミトコンドリア病 [DS:H01427]",,,"Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism.",先天性代謝異常症; ミトコンドリア病,,OGDHL [HSA:55753] [KO:K00164],,,,,,"ICD-11: 5C53.1
 ICD-10: E88.4
 OMIM: 619701","PMID:34800363
 著者        Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH
 タイトル      Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
 雑誌        Am J Hum Genet 108:2368-2384 (2021)
 DOI:10.1016/j.ajhg.2021.11.003","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02562"">H02562</a>","Yoon-Bellen 神経発達症候群
 上位グループ    α ケトグルタル酸脱水素酵素複合体欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02006"">H02006</a>]
 TCA回路の異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01022"">H01022</a>]
 ミトコンドリア病 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01427"">H01427</a>]","Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism.",,"OGDHL [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55753"">55753</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00164"">K00164</a>]",,,,,,"ICD-11: 5C53.1
 ICD-10: E88.4
 OMIM: <a href=""https://www.omim.org/entry/619701"">619701</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34800363"">34800363</a>
 著者        Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH
 タイトル      Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
 雑誌        Am J Hum Genet 108:2368-2384 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2021.11.003"">10.1016/j.ajhg.2021.11.003</a>"
H02563,"神経管欠損症
 下位グループ    葉酸感受性神経管欠損症 [DS:H00262]
 無脳症 [DS:H02120]
 二分脊椎症
 脊髄髄膜瘤
 脊髄裂",,,Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors. The most common and most severe NTDs include spina bifida (myelomeningocele) and anencephaly. Spina bifida is caused by failure of posterior neural tube closure resulting in exposure and/or herniation of the spinal cord. Anencephaly is caused by failure of anterior neural tube closure.,先天奇形,,"VANGL1 [HSA:81839] [KO:K04510]
 VANGL2 [HSA:57216] [KO:K04510]
 TBXT [HSA:6862] [KO:K10172]
 CCL2 [HSA:6347] [KO:K14624]
 FUZ [HSA:80199] [KO:K22861]",,,,,,"ICD-11: LA02
 ICD-10: Q05
 MeSH: D016135 D008591
 OMIM: 182940","PMID:19120526
 著者        Kondo A, Kamihira O, Ozawa H
 タイトル      Neural tube defects: prevalence, etiology and prevention.
 雑誌        Int J Urol 16:49-57 (2009)
 DOI:10.1111/j.1442-2042.2008.02163.x
 PMID:17470131
 著者        Kibar Z, Capra V, Gros P
 タイトル      Toward understanding the genetic basis of neural tube defects.
 雑誌        Clin Genet 71:295-310 (2007)
 DOI:10.1111/j.1399-0004.2007.00793.x
 PMID:34014041 (VANGL1)
 著者        Cheng C, Zhao S, Zhu X, Yang F, Wang W, Feng Q, Liu Y, Huang H, Chen X
 タイトル      The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
 雑誌        Mol Genet Genomic Med 9:e1710 (2021)
 DOI:10.1002/mgg3.1710
 PMID:20558380 (VANGL2)
 著者        Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY
 タイトル      VANGL2 mutations in human cranial neural-tube defects.
 雑誌        N Engl J Med 362:2232-5 (2010)
 DOI:10.1056/NEJMc0910820
 PMID:26210634 (TBXT)
 著者        Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS
 タイトル      T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
 雑誌        Hum Genet 134:1139-41 (2015)
 DOI:10.1007/s00439-015-1589-7
 PMID:18937353 (CCL2)
 著者        Lu ZY, Morales M, Khartulyari S, Mei M, Murphy KM, Stanislawska-Sachadyn A, Summers CM, Huang Y, Von Feldt JM, Blair IA, Mitchell LE, Whitehead AS
 タイトル      Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor.
 雑誌        Birth Defects Res A Clin Mol Teratol 82:736-41 (2008)
 DOI:10.1002/bdra.20507
 PMID:21840926 (FUZ)
 著者        Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E
 タイトル      Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
 雑誌        Hum Mol Genet 20:4324-33 (2011)
 DOI:10.1093/hmg/ddr359","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02563"">H02563</a>","神経管欠損症
 下位グループ    葉酸感受性神経管欠損症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00262"">H00262</a>]
 無脳症 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02120"">H02120</a>]
 二分脊椎症
 脊髄髄膜瘤
 脊髄裂",Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors. The most common and most severe NTDs include spina bifida (myelomeningocele) and anencephaly. Spina bifida is caused by failure of posterior neural tube closure resulting in exposure and/or herniation of the spinal cord. Anencephaly is caused by failure of anterior neural tube closure.,,"VANGL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81839"">81839</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04510"">K04510</a>]
 VANGL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:57216"">57216</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04510"">K04510</a>]
 TBXT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6862"">6862</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10172"">K10172</a>]
 CCL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6347"">6347</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K14624"">K14624</a>]
 FUZ [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:80199"">80199</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22861"">K22861</a>]",,,,,,"ICD-11: LA02
 ICD-10: Q05
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D016135"">D016135</a> <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D008591"">D008591</a>
 OMIM: <a href=""https://www.omim.org/entry/182940"">182940</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/19120526"">19120526</a>
 著者        Kondo A, Kamihira O, Ozawa H
 タイトル      Neural tube defects: prevalence, etiology and prevention.
 雑誌        Int J Urol 16:49-57 (2009)
 DOI:<a href=""https://doi.org/10.1111/j.1442-2042.2008.02163.x"">10.1111/j.1442-2042.2008.02163.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17470131"">17470131</a>
 著者        Kibar Z, Capra V, Gros P
 タイトル      Toward understanding the genetic basis of neural tube defects.
 雑誌        Clin Genet 71:295-310 (2007)
 DOI:<a href=""https://doi.org/10.1111/j.1399-0004.2007.00793.x"">10.1111/j.1399-0004.2007.00793.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34014041"">34014041</a> (VANGL1)
 著者        Cheng C, Zhao S, Zhu X, Yang F, Wang W, Feng Q, Liu Y, Huang H, Chen X
 タイトル      The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
 雑誌        Mol Genet Genomic Med 9:e1710 (2021)
 DOI:<a href=""https://doi.org/10.1002/mgg3.1710"">10.1002/mgg3.1710</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20558380"">20558380</a> (VANGL2)
 著者        Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY
 タイトル      VANGL2 mutations in human cranial neural-tube defects.
 雑誌        N Engl J Med 362:2232-5 (2010)
 DOI:<a href=""https://doi.org/10.1056/NEJMc0910820"">10.1056/NEJMc0910820</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26210634"">26210634</a> (TBXT)
 著者        Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS
 タイトル      T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
 雑誌        Hum Genet 134:1139-41 (2015)
 DOI:<a href=""https://doi.org/10.1007/s00439-015-1589-7"">10.1007/s00439-015-1589-7</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18937353"">18937353</a> (CCL2)
 著者        Lu ZY, Morales M, Khartulyari S, Mei M, Murphy KM, Stanislawska-Sachadyn A, Summers CM, Huang Y, Von Feldt JM, Blair IA, Mitchell LE, Whitehead AS
 タイトル      Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor.
 雑誌        Birth Defects Res A Clin Mol Teratol 82:736-41 (2008)
 DOI:<a href=""https://doi.org/10.1002/bdra.20507"">10.1002/bdra.20507</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21840926"">21840926</a> (FUZ)
 著者        Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E
 タイトル      Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
 雑誌        Hum Mol Genet 20:4324-33 (2011)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddr359"">10.1093/hmg/ddr359</a>"
H02564,"全般てんかん熱性けいれんプラス
 上位グループ    熱性けいれん [DS:H00783]",,,Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor subunit genes have been identified in GEFSP.,神経系疾患,,"(GEFSP1) SCN1B [HSA:6324] [KO:K04845]
 (GEFSP2) SCN1A [HSA:6323] [KO:K04833]
 (GEFSP3) GABRG2 [HSA:2566] [KO:K05186]
 (GEFSP5) GABRD [HSA:2563] [KO:K05184]
 (GEFSP9) STX1B [HSA:112755] [KO:K08486]
 (GEFSP10) HCN1 [HSA:348980] [KO:K04954]
 (GEFSP11) HCN2 [HSA:610] [KO:K04955]",,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.3
 MeSH: C565808
 OMIM: 604233 604403 607681 613060 616172 618482 602477","PMID:21858011
 著者        Piro RM, Molineris I, Ala U, Di Cunto F
 タイトル      Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
 雑誌        PLoS One 6:e23149 (2011)
 DOI:10.1371/journal.pone.0023149
 PMID:14738422 (SCN1A, SCN1B, GABRG2)
 著者        Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R
 タイトル      Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
 雑誌        Epilepsia 45:149-58 (2004)
 DOI:10.1111/j.0013-9580.2004.04303.x
 PMID:15115768 (GABRD)
 著者        Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC
 タイトル      GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
 雑誌        Hum Mol Genet 13:1315-9 (2004)
 DOI:10.1093/hmg/ddh146
 PMID:25362483 (STX1B)
 著者        Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, Caliebe A, Nagel I, Kohl B, Kecskes A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Moller RS, Hjalgrim H, Koeleman BP, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nurnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H
 タイトル      Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
 雑誌        Nat Genet 46:1327-32 (2014)
 DOI:10.1038/ng.3130
 PMID:30351409 (HCN1)
 著者        Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C
 タイトル      HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
 雑誌        Brain 141:3160-3178 (2018)
 DOI:10.1093/brain/awy263
 PMID:22131395 (HCN2)
 著者        DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D
 タイトル      Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
 雑誌        J Neurosci 31:17327-37 (2011)
 DOI:10.1523/JNEUROSCI.3727-11.2011","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02564"">H02564</a>","全般てんかん熱性けいれんプラス
 上位グループ    熱性けいれん [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00783"">H00783</a>]",Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor subunit genes have been identified in GEFSP.,,"(GEFSP1) SCN1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6324"">6324</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04845"">K04845</a>]
 (GEFSP2) SCN1A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6323"">6323</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04833"">K04833</a>]
 (GEFSP3) GABRG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2566"">2566</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05186"">K05186</a>]
 (GEFSP5) GABRD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2563"">2563</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K05184"">K05184</a>]
 (GEFSP9) STX1B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:112755"">112755</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08486"">K08486</a>]
 (GEFSP10) HCN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:348980"">348980</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04954"">K04954</a>]
 (GEFSP11) HCN2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:610"">610</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04955"">K04955</a>]",,,,,,"ICD-11: 8A61.2Y
 ICD-10: G40.3
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C565808"">C565808</a>
 OMIM: <a href=""https://www.omim.org/entry/604233"">604233</a> <a href=""https://www.omim.org/entry/604403"">604403</a> <a href=""https://www.omim.org/entry/607681"">607681</a> <a href=""https://www.omim.org/entry/613060"">613060</a> <a href=""https://www.omim.org/entry/616172"">616172</a> <a href=""https://www.omim.org/entry/618482"">618482</a> <a href=""https://www.omim.org/entry/602477"">602477</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21858011"">21858011</a>
 著者        Piro RM, Molineris I, Ala U, Di Cunto F
 タイトル      Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
 雑誌        PLoS One 6:e23149 (2011)
 DOI:<a href=""https://doi.org/10.1371/journal.pone.0023149"">10.1371/journal.pone.0023149</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/14738422"">14738422</a> (SCN1A, <a href=""https://pubmed.ncbi.nlm.nih.gov/SCN1B,"">SCN1B,</a> <a href=""https://pubmed.ncbi.nlm.nih.gov/GABRG2)"">GABRG2)</a>
 著者        Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R
 タイトル      Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
 雑誌        Epilepsia 45:149-58 (2004)
 DOI:<a href=""https://doi.org/10.1111/j.0013-9580.2004.04303.x"">10.1111/j.0013-9580.2004.04303.x</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15115768"">15115768</a> (GABRD)
 著者        Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC
 タイトル      GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
 雑誌        Hum Mol Genet 13:1315-9 (2004)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddh146"">10.1093/hmg/ddh146</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25362483"">25362483</a> (STX1B)
 著者        Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, Caliebe A, Nagel I, Kohl B, Kecskes A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Moller RS, Hjalgrim H, Koeleman BP, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nurnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H
 タイトル      Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
 雑誌        Nat Genet 46:1327-32 (2014)
 DOI:<a href=""https://doi.org/10.1038/ng.3130"">10.1038/ng.3130</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30351409"">30351409</a> (HCN1)
 著者        Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C
 タイトル      HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
 雑誌        Brain 141:3160-3178 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy263"">10.1093/brain/awy263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22131395"">22131395</a> (HCN2)
 著者        DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D
 タイトル      Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
 雑誌        J Neurosci 31:17327-37 (2011)
 DOI:<a href=""https://doi.org/10.1523/JNEUROSCI.3727-11.2011"">10.1523/JNEUROSCI.3727-11.2011</a>"
H02565,"遺伝性非ポリポーシス大腸癌
 下位グループ    リンチ症候群
 Muir-Torre 症候群 [DS:H02566]
 上位グループ    結腸・直腸癌 [DS:H00020]
 固形腫瘍 [DS:H02421]
 ミスマッチ修復異常 [DS:H00876]",,,Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the gastrointestinal and urogenital tracts. HNPCC is caused by familial mutations in some of the genes responsible for DNA mismatch repair.,がん,,"(HNPCC1) MSH2 [HSA:4436] [KO:K08735]
 (HNPCC2) MLH1 [HSA:4292] [KO:K08734]
 (HNPCC4) PMS2 [HSA:5395] [KO:K10858]
 (HNPCC5) MSH6 [HSA:2956] [KO:K08737]
 (HNPCC6) TGFBR2 [HSA:7048] [KO:K04388]
 (HNPCC7) MLH3 [HSA:27030] [KO:K08739]
 (HNPCC8) EPCAM [HSA:4072] [KO:K06737]",,,,,,"ICD-11: 2B90.Y
 ICD-10: C18.9
 MeSH: D003123
 OMIM: 120435 609310 614337 614350 614331 614385 613244","PMID:18186571 (MSH2, MLH1)
 著者        Zhang CH, He YL, Wang FJ, Song W, Yuan XY, Yang DJ, Chen CQ, Cai SR, Zhan WH
 タイトル      Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.
 雑誌        World J Gastroenterol 14:298-302 (2008)
 DOI:10.3748/wjg.14.298
 PMID:15887124 (PMS2)
 著者        Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G
 タイトル      Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
 雑誌        Gastroenterology 128:1431-6 (2005)
 DOI:10.1053/j.gastro.2005.04.008
 PMID:12920072 (MSH6)
 著者        Plaschke J, Ruschoff J, Schackert HK
 タイトル      Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.
 雑誌        J Med Genet 40:597-600 (2003)
 DOI:10.1136/jmg.40.8.597
 PMID:9590282 (TGFBR2)
 著者        Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y
 タイトル      HNPCC associated with germline mutation in the TGF-beta type II receptor gene.
 雑誌        Nat Genet 19:17-8 (1998)
 DOI:10.1038/ng0598-17
 PMID:11586295 (MLH3)
 著者        Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM
 タイトル      A role for MLH3 in hereditary nonpolyposis colorectal cancer.
 雑誌        Nat Genet 29:137-8 (2001)
 DOI:10.1038/ng1001-137
 PMID:21769135 (EPCAM)
 著者        Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ
 タイトル      Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.
 雑誌        Am J Gastroenterol 106:1829-36 (2011)
 DOI:10.1038/ajg.2011.203","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02565"">H02565</a>","遺伝性非ポリポーシス大腸癌
 下位グループ    リンチ症候群
 Muir-Torre 症候群 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02566"">H02566</a>]
 上位グループ    結腸・直腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]
 ミスマッチ修復異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00876"">H00876</a>]",Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the gastrointestinal and urogenital tracts. HNPCC is caused by familial mutations in some of the genes responsible for DNA mismatch repair.,,"(HNPCC1) MSH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4436"">4436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08735"">K08735</a>]
 (HNPCC2) MLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]
 (HNPCC4) PMS2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5395"">5395</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10858"">K10858</a>]
 (HNPCC5) MSH6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2956"">2956</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08737"">K08737</a>]
 (HNPCC6) TGFBR2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7048"">7048</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04388"">K04388</a>]
 (HNPCC7) MLH3 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:27030"">27030</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08739"">K08739</a>]
 (HNPCC8) EPCAM [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4072"">4072</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06737"">K06737</a>]",,,,,,"ICD-11: 2B90.Y
 ICD-10: C18.9
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D003123"">D003123</a>
 OMIM: <a href=""https://www.omim.org/entry/120435"">120435</a> <a href=""https://www.omim.org/entry/609310"">609310</a> <a href=""https://www.omim.org/entry/614337"">614337</a> <a href=""https://www.omim.org/entry/614350"">614350</a> <a href=""https://www.omim.org/entry/614331"">614331</a> <a href=""https://www.omim.org/entry/614385"">614385</a> <a href=""https://www.omim.org/entry/613244"">613244</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/18186571"">18186571</a> (MSH2, <a href=""https://pubmed.ncbi.nlm.nih.gov/MLH1)"">MLH1)</a>
 著者        Zhang CH, He YL, Wang FJ, Song W, Yuan XY, Yang DJ, Chen CQ, Cai SR, Zhan WH
 タイトル      Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.
 雑誌        World J Gastroenterol 14:298-302 (2008)
 DOI:<a href=""https://doi.org/10.3748/wjg.14.298"">10.3748/wjg.14.298</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15887124"">15887124</a> (PMS2)
 著者        Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G
 タイトル      Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
 雑誌        Gastroenterology 128:1431-6 (2005)
 DOI:<a href=""https://doi.org/10.1053/j.gastro.2005.04.008"">10.1053/j.gastro.2005.04.008</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12920072"">12920072</a> (MSH6)
 著者        Plaschke J, Ruschoff J, Schackert HK
 タイトル      Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.
 雑誌        J Med Genet 40:597-600 (2003)
 DOI:<a href=""https://doi.org/10.1136/jmg.40.8.597"">10.1136/jmg.40.8.597</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9590282"">9590282</a> (TGFBR2)
 著者        Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y
 タイトル      HNPCC associated with germline mutation in the TGF-beta type II receptor gene.
 雑誌        Nat Genet 19:17-8 (1998)
 DOI:<a href=""https://doi.org/10.1038/ng0598-17"">10.1038/ng0598-17</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11586295"">11586295</a> (MLH3)
 著者        Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM
 タイトル      A role for MLH3 in hereditary nonpolyposis colorectal cancer.
 雑誌        Nat Genet 29:137-8 (2001)
 DOI:<a href=""https://doi.org/10.1038/ng1001-137"">10.1038/ng1001-137</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/21769135"">21769135</a> (EPCAM)
 著者        Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ
 タイトル      Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.
 雑誌        Am J Gastroenterol 106:1829-36 (2011)
 DOI:<a href=""https://doi.org/10.1038/ajg.2011.203"">10.1038/ajg.2011.203</a>"
H02566,"Muir-Torre 症候群
 上位グループ    遺伝性非ポリポーシス大腸癌 [DS:H02565]
 結腸・直腸癌 [DS:H00020]
 ミスマッチ修復異常 [DS:H00876]",,,"Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch repair genes MSH2 and MLH1, Muir-Torre syndrome is considered a phenotypic subtype of Lynch syndrome.",がん,,"MSH2 [HSA:4436] [KO:K08735]
 MLH1 [HSA:4292] [KO:K08734]",,,,,,"ICD-11: 2C31.1
 ICD-10: L72.8
 MeSH: D055653
 OMIM: 158320","PMID:25427047
 著者        Bhaijee F, Brown AS
 タイトル      Muir-Torre syndrome.
 雑誌        Arch Pathol Lab Med 138:1685-9 (2014)
 DOI:10.5858/arpa.2013-0301-RS
 PMID:16826164
 著者        Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S
 タイトル      Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
 雑誌        J Invest Dermatol 126:2302-7 (2006)
 DOI:10.1038/sj.jid.5700475
 PMID:7713503 (MSH2)
 著者        Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P
 タイトル      Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
 雑誌        Genomics 24:516-26 (1994)
 DOI:10.1006/geno.1994.1661
 PMID:8751876 (MLH1)
 著者        Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod SA, Gallinger S
 タイトル      The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.
 雑誌        Am J Hum Genet 59:736-9 (1996)","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02566"">H02566</a>","Muir-Torre 症候群
 上位グループ    遺伝性非ポリポーシス大腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02565"">H02565</a>]
 結腸・直腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>]
 ミスマッチ修復異常 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00876"">H00876</a>]","Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch repair genes MSH2 and MLH1, Muir-Torre syndrome is considered a phenotypic subtype of Lynch syndrome.",,"MSH2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4436"">4436</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08735"">K08735</a>]
 MLH1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4292"">4292</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K08734"">K08734</a>]",,,,,,"ICD-11: 2C31.1
 ICD-10: L72.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D055653"">D055653</a>
 OMIM: <a href=""https://www.omim.org/entry/158320"">158320</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25427047"">25427047</a>
 著者        Bhaijee F, Brown AS
 タイトル      Muir-Torre syndrome.
 雑誌        Arch Pathol Lab Med 138:1685-9 (2014)
 DOI:<a href=""https://doi.org/10.5858/arpa.2013-0301-RS"">10.5858/arpa.2013-0301-RS</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16826164"">16826164</a>
 著者        Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S
 タイトル      Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
 雑誌        J Invest Dermatol 126:2302-7 (2006)
 DOI:<a href=""https://doi.org/10.1038/sj.jid.5700475"">10.1038/sj.jid.5700475</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7713503"">7713503</a> (MSH2)
 著者        Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P
 タイトル      Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
 雑誌        Genomics 24:516-26 (1994)
 DOI:<a href=""https://doi.org/10.1006/geno.1994.1661"">10.1006/geno.1994.1661</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8751876"">8751876</a> (MLH1)
 著者        Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod SA, Gallinger S
 タイトル      The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.
 雑誌        Am J Hum Genet 59:736-9 (1996)"
H02567,末梢神経障害を伴うソルビトール脱水素酵素欠損症,,,Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic mutations in SORD that encodes an enzyme that converts sorbitol into fructose.,先天性代謝異常症,,SORD [HSA:6652] [KO:K00008],,,,,,"ICD-11: 5C51.Y
 ICD-10: E74.8
 OMIM: 618912","PMID:32367058
 著者        Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laura M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schule R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S
 タイトル      Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
 雑誌        Nat Genet 52:473-481 (2020)
 DOI:10.1038/s41588-020-0615-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02567"">H02567</a>",末梢神経障害を伴うソルビトール脱水素酵素欠損症,Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic mutations in SORD that encodes an enzyme that converts sorbitol into fructose.,,"SORD [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6652"">6652</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K00008"">K00008</a>]",,,,,,"ICD-11: 5C51.Y
 ICD-10: E74.8
 OMIM: <a href=""https://www.omim.org/entry/618912"">618912</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32367058"">32367058</a>
 著者        Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laura M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schule R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S
 タイトル      Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
 雑誌        Nat Genet 52:473-481 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41588-020-0615-4"">10.1038/s41588-020-0615-4</a>"
H02568,"ポリメラーゼ校正関連ポリポーシス
 上位グループ    結腸・直腸癌 [DS:H00020]
 固形腫瘍 [DS:H02421]",,,"Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumors.",がん,,"POLD1 [HSA:5424] [KO:K02327]
 POLE [HSA:5426] [KO:K02324]",,,,,,"ICD-11: 2B90.Y
 ICD-10: C18.9
 OMIM: 612591 615083","PMID:33948826
 著者        Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V, Heitzer E, Kerr R, Kerr D, Kearsey S, Clark SK, Tomlinson I, Latchford A
 タイトル      The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
 雑誌        Fam Cancer 21:197-209 (2022)
 DOI:10.1007/s10689-021-00256-y
 PMID:26133394
 著者        Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L
 タイトル      POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
 雑誌        Genet Med 18:325-32 (2016)
 DOI:10.1038/gim.2015.75
 PMID:32548621 (POLD1)
 著者        Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H
 タイトル      The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
 雑誌        Jpn J Clin Oncol 50:1080-1083 (2020)
 DOI:10.1093/jjco/hyaa090
 PMID:32424176 (POLE)
 著者        Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E
 タイトル      Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
 雑誌        Genet Med 22:1533-1541 (2020)
 DOI:10.1038/s41436-020-0828-z","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02568"">H02568</a>","ポリメラーゼ校正関連ポリポーシス
 上位グループ    結腸・直腸癌 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H00020"">H00020</a>]
 固形腫瘍 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H02421"">H02421</a>]","Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumors.",,"POLD1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5424"">5424</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02327"">K02327</a>]
 POLE [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5426"">5426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02324"">K02324</a>]",,,,,,"ICD-11: 2B90.Y
 ICD-10: C18.9
 OMIM: <a href=""https://www.omim.org/entry/612591"">612591</a> <a href=""https://www.omim.org/entry/615083"">615083</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33948826"">33948826</a>
 著者        Palles C, Martin L, Domingo E, Chegwidden L, McGuire J, Cuthill V, Heitzer E, Kerr R, Kerr D, Kearsey S, Clark SK, Tomlinson I, Latchford A
 タイトル      The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
 雑誌        Fam Cancer 21:197-209 (2022)
 DOI:<a href=""https://doi.org/10.1007/s10689-021-00256-y"">10.1007/s10689-021-00256-y</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/26133394"">26133394</a>
 著者        Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L
 タイトル      POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
 雑誌        Genet Med 18:325-32 (2016)
 DOI:<a href=""https://doi.org/10.1038/gim.2015.75"">10.1038/gim.2015.75</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32548621"">32548621</a> (POLD1)
 著者        Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H
 タイトル      The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
 雑誌        Jpn J Clin Oncol 50:1080-1083 (2020)
 DOI:<a href=""https://doi.org/10.1093/jjco/hyaa090"">10.1093/jjco/hyaa090</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32424176"">32424176</a> (POLE)
 著者        Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E
 タイトル      Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
 雑誌        Genet Med 22:1533-1541 (2020)
 DOI:<a href=""https://doi.org/10.1038/s41436-020-0828-z"">10.1038/s41436-020-0828-z</a>"
H02569,テロメア関連肺線維症および/または骨髄不全症,,,"Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused by inherited loss-of-function mutations in telomere associated genes. It has a wide phenotypic spectrum that include bone marrow failure, pulmonary and liver fibrosis, mucocutaneous fragility, and predisposition to myelodysplastic syndromes and cancer.",血液疾患,,"(PFBMFT1) TERT [HSA:7015] [KO:K11126]
 (PFBMFT2) TERC [HSA:7012] [KO:K22183]
 (PFBMFT3) RTEL1 [HSA:51750] [KO:K11136]
 (PFBMFT4) PARN [HSA:5073] [KO:K01148]
 (PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128]
 (PFBMFT6) RPA1 [HSA:6117] [KO:K07466]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.8
 OMIM: 614742 614743 616373 616371 618674 619767","PMID:22512499
 著者        Gansner JM, Rosas IO, Ebert BL
 タイトル      Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
 雑誌        N Engl J Med 366:1551-3 (2012)
 DOI:10.1056/NEJMc1200999
 PMID:12090986
 著者        Vulliamy T, Marrone A, Dokal I, Mason PJ
 タイトル      Association between aplastic anaemia and mutations in telomerase RNA.
 雑誌        Lancet 359:2168-70 (2002)
 DOI:10.1016/S0140-6736(02)09087-6
 PMID:25848748 (RTEL1, PARN)
 著者        Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK
 タイトル      Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
 雑誌        Nat Genet 47:512-7 (2015)
 DOI:10.1038/ng.3278
 PMID:31488579 (ZCCHC8)
 著者        Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M
 タイトル      ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
 雑誌        Genes Dev 33:1381-1396 (2019)
 DOI:10.1101/gad.326785.119
 PMID:34767620 (RPA1)
 著者        Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW
 タイトル      Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
 雑誌        Blood 139:1039-1051 (2022)
 DOI:10.1182/blood.2021011980","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02569"">H02569</a>",テロメア関連肺線維症および/または骨髄不全症,"Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused by inherited loss-of-function mutations in telomere associated genes. It has a wide phenotypic spectrum that include bone marrow failure, pulmonary and liver fibrosis, mucocutaneous fragility, and predisposition to myelodysplastic syndromes and cancer.",,"(PFBMFT1) TERT [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7015"">7015</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11126"">K11126</a>]
 (PFBMFT2) TERC [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7012"">7012</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K22183"">K22183</a>]
 (PFBMFT3) RTEL1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:51750"">51750</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11136"">K11136</a>]
 (PFBMFT4) PARN [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5073"">5073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01148"">K01148</a>]
 (PFBMFT5) ZCCHC8 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55596"">55596</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K13128"">K13128</a>]
 (PFBMFT6) RPA1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:6117"">6117</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K07466"">K07466</a>]",,,,,,"ICD-11: 3A70.0
 ICD-10: D61.8
 OMIM: <a href=""https://www.omim.org/entry/614742"">614742</a> <a href=""https://www.omim.org/entry/614743"">614743</a> <a href=""https://www.omim.org/entry/616373"">616373</a> <a href=""https://www.omim.org/entry/616371"">616371</a> <a href=""https://www.omim.org/entry/618674"">618674</a> <a href=""https://www.omim.org/entry/619767"">619767</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22512499"">22512499</a>
 著者        Gansner JM, Rosas IO, Ebert BL
 タイトル      Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
 雑誌        N Engl J Med 366:1551-3 (2012)
 DOI:<a href=""https://doi.org/10.1056/NEJMc1200999"">10.1056/NEJMc1200999</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12090986"">12090986</a>
 著者        Vulliamy T, Marrone A, Dokal I, Mason PJ
 タイトル      Association between aplastic anaemia and mutations in telomerase RNA.
 雑誌        Lancet 359:2168-70 (2002)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(02)09087-6"">10.1016/S0140-6736(02)09087-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25848748"">25848748</a> (RTEL1, <a href=""https://pubmed.ncbi.nlm.nih.gov/PARN)"">PARN)</a>
 著者        Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK
 タイトル      Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
 雑誌        Nat Genet 47:512-7 (2015)
 DOI:<a href=""https://doi.org/10.1038/ng.3278"">10.1038/ng.3278</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31488579"">31488579</a> (ZCCHC8)
 著者        Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M
 タイトル      ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
 雑誌        Genes Dev 33:1381-1396 (2019)
 DOI:<a href=""https://doi.org/10.1101/gad.326785.119"">10.1101/gad.326785.119</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/34767620"">34767620</a> (RPA1)
 著者        Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW
 タイトル      Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
 雑誌        Blood 139:1039-1051 (2022)
 DOI:<a href=""https://doi.org/10.1182/blood.2021011980"">10.1182/blood.2021011980</a>"
H02570,脳・眼・顔・骨格症候群,,,"Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.",先天奇形,,"(COFS1) ERCC6 [HSA:2074] [KO:K10841]
 (COFS2) ERCC2 [HSA:2068] [KO:K10844]
 (COFS3) ERCC5 [HSA:2073] [KO:K10846]
 (COFS4) ERCC1 [HSA:2067] [KO:K10849]",,,,,,"ICD-11: LD2B
 ICD-10: Q87.1
 OMIM: 214150 610756 616570 610758","PMID:10739753 (ERCC6)
 著者        Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC
 タイトル      Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
 雑誌        Am J Hum Genet 66:1221-8 (2000)
 DOI:10.1086/302867
 PMID:11443545 (ERCC2)
 著者        Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
 タイトル      Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
 雑誌        Am J Hum Genet 69:291-300 (2001)
 DOI:10.1086/321295
 PMID:24700531 (ERCC5)
 著者        Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
 タイトル      A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
 雑誌        Am J Med Genet A 164A:1777-83 (2014)
 DOI:10.1002/ajmg.a.36506
 PMID:17273966 (ERCC1)
 著者        Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W
 タイトル      First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
 雑誌        Am J Hum Genet 80:457-66 (2007)
 DOI:10.1086/512486","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02570"">H02570</a>",脳・眼・顔・骨格症候群,"Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.",,"(COFS1) ERCC6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2074"">2074</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10841"">K10841</a>]
 (COFS2) ERCC2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2068"">2068</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10844"">K10844</a>]
 (COFS3) ERCC5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2073"">2073</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10846"">K10846</a>]
 (COFS4) ERCC1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:2067"">2067</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10849"">K10849</a>]",,,,,,"ICD-11: LD2B
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/214150"">214150</a> <a href=""https://www.omim.org/entry/610756"">610756</a> <a href=""https://www.omim.org/entry/616570"">616570</a> <a href=""https://www.omim.org/entry/610758"">610758</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/10739753"">10739753</a> (ERCC6)
 著者        Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC
 タイトル      Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
 雑誌        Am J Hum Genet 66:1221-8 (2000)
 DOI:<a href=""https://doi.org/10.1086/302867"">10.1086/302867</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11443545"">11443545</a> (ERCC2)
 著者        Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
 タイトル      Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
 雑誌        Am J Hum Genet 69:291-300 (2001)
 DOI:<a href=""https://doi.org/10.1086/321295"">10.1086/321295</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/24700531"">24700531</a> (ERCC5)
 著者        Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
 タイトル      A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
 雑誌        Am J Med Genet A 164A:1777-83 (2014)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.36506"">10.1002/ajmg.a.36506</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17273966"">17273966</a> (ERCC1)
 著者        Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W
 タイトル      First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
 雑誌        Am J Hum Genet 80:457-66 (2007)
 DOI:<a href=""https://doi.org/10.1086/512486"">10.1086/512486</a>"
H02571,筋緊張低下および様々な知能・行動異常を伴う神経発達障害,,,"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay. Patients harboring de novo heterozygous variants in POLR2A have been reported. Human POLR2A encodes the RPB1 protein, which is the largest of twelve subunits of the essential RNA polymerase II enzyme. Elongation of RNA polymerase II is affected by many factors including DNA damage.",神経系疾患,,POLR2A [HSA:5430] [KO:K03006],,,,,,"ICD-11: 6A0Y
 ICD-10: F88
 OMIM: 618603","PMID:31353023
 著者        Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
 タイトル      De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
 雑誌        Am J Hum Genet 105:283-301 (2019)
 DOI:10.1016/j.ajhg.2019.06.016
 PMID:33894524
 著者        Duan M, Speer RM, Ulibarri J, Liu KJ, Mao P
 タイトル      Transcription-coupled nucleotide excision repair: New insights revealed by genomic approaches.
 雑誌        DNA Repair (Amst) 103:103126 (2021)
 DOI:10.1016/j.dnarep.2021.103126","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02571"">H02571</a>",筋緊張低下および様々な知能・行動異常を伴う神経発達障害,"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay. Patients harboring de novo heterozygous variants in POLR2A have been reported. Human POLR2A encodes the RPB1 protein, which is the largest of twelve subunits of the essential RNA polymerase II enzyme. Elongation of RNA polymerase II is affected by many factors including DNA damage.",,"POLR2A [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:5430"">5430</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03006"">K03006</a>]",,,,,,"ICD-11: 6A0Y
 ICD-10: F88
 OMIM: <a href=""https://www.omim.org/entry/618603"">618603</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31353023"">31353023</a>
 著者        Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
 タイトル      De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
 雑誌        Am J Hum Genet 105:283-301 (2019)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2019.06.016"">10.1016/j.ajhg.2019.06.016</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/33894524"">33894524</a>
 著者        Duan M, Speer RM, Ulibarri J, Liu KJ, Mao P
 タイトル      Transcription-coupled nucleotide excision repair: New insights revealed by genomic approaches.
 雑誌        DNA Repair (Amst) 103:103126 (2021)
 DOI:<a href=""https://doi.org/10.1016/j.dnarep.2021.103126"">10.1016/j.dnarep.2021.103126</a>"
H02572,多様な運動失調とけいれんを伴う小児発症ストレス誘発性神経変性疾患,,,"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress was variable but frequently associated with periods of increased stress, such as infections. It has been reported that biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, cause CONDSIAS.",神経系疾患,,ADPRHL2 [HSA:54936] [KO:K11687],,,,,,"ICD-11: 8E4Y
 OMIM: 618170","PMID:30401461
 著者        Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB
 タイトル      Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
 雑誌        Am J Hum Genet 103:817-825 (2018)
 DOI:10.1016/j.ajhg.2018.10.005
 PMID:30100084
 著者        Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG
 タイトル      Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
 雑誌        Am J Hum Genet 103:431-439 (2018)
 DOI:10.1016/j.ajhg.2018.07.010","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02572"">H02572</a>",多様な運動失調とけいれんを伴う小児発症ストレス誘発性神経変性疾患,"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress was variable but frequently associated with periods of increased stress, such as infections. It has been reported that biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, cause CONDSIAS.",,"ADPRHL2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:54936"">54936</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11687"">K11687</a>]",,,,,,"ICD-11: 8E4Y
 OMIM: <a href=""https://www.omim.org/entry/618170"">618170</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30401461"">30401461</a>
 著者        Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB
 タイトル      Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
 雑誌        Am J Hum Genet 103:817-825 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.10.005"">10.1016/j.ajhg.2018.10.005</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/30100084"">30100084</a>
 著者        Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG
 タイトル      Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
 雑誌        Am J Hum Genet 103:431-439 (2018)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2018.07.010"">10.1016/j.ajhg.2018.07.010</a>"
H02573,常染色体劣性遺伝性脊髄小脳失調症および軸索性ニューロパチー,,,"Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy.",神経変性疾患,,"(SCAN1) TDP1 [HSA:55775] [KO:K10862]
 (SCAN2) SETX [HSA:23064] [KO:K10706]
 (SCAN3) COA7 [HSA:65260] [KO:K18180]",,,,,,"ICD-11: 8A03.16
 ICD-10: G60.2
 MeSH: D020754
 OMIM: 607250 606002 618387","PMID:17948061 (SCAN1)
 著者        Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
 タイトル      Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
 雑誌        EMBO J 26:4732-43 (2007)
 DOI:10.1038/sj.emboj.7601885
 PMID:35203940 (SCAN2)
 著者        Chiang PI, Liao TW, Chen CM
 タイトル      A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
 雑誌        Brain Sci 12:173 (2022)
 DOI:10.3390/brainsci12020173
 PMID:29718187 (SCAN3)
 著者        Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
 タイトル      Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
 雑誌        Brain 141:1622-1636 (2018)
 DOI:10.1093/brain/awy104","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02573"">H02573</a>",常染色体劣性遺伝性脊髄小脳失調症および軸索性ニューロパチー,"Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy.",,"(SCAN1) TDP1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:55775"">55775</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10862"">K10862</a>]
 (SCAN2) SETX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:23064"">23064</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10706"">K10706</a>]
 (SCAN3) COA7 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:65260"">65260</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K18180"">K18180</a>]",,,,,,"ICD-11: 8A03.16
 ICD-10: G60.2
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D020754"">D020754</a>
 OMIM: <a href=""https://www.omim.org/entry/607250"">607250</a> <a href=""https://www.omim.org/entry/606002"">606002</a> <a href=""https://www.omim.org/entry/618387"">618387</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/17948061"">17948061</a> (SCAN1)
 著者        Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
 タイトル      Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
 雑誌        EMBO J 26:4732-43 (2007)
 DOI:<a href=""https://doi.org/10.1038/sj.emboj.7601885"">10.1038/sj.emboj.7601885</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/35203940"">35203940</a> (SCAN2)
 著者        Chiang PI, Liao TW, Chen CM
 タイトル      A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
 雑誌        Brain Sci 12:173 (2022)
 DOI:<a href=""https://doi.org/10.3390/brainsci12020173"">10.3390/brainsci12020173</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29718187"">29718187</a> (SCAN3)
 著者        Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H
 タイトル      Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
 雑誌        Brain 141:1622-1636 (2018)
 DOI:<a href=""https://doi.org/10.1093/brain/awy104"">10.1093/brain/awy104</a>"
H02574,BILU 症候群,,,"BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency. It has been reported that autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription.",免疫系疾患,,TOP2B [HSA:7155] [KO:K03164],,,,,,"ICD-11: 4A01.3
 ICD-10: D82.8
 MeSH: C563745
 OMIM: 609296","PMID:31409799
 著者        Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hugle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM
 タイトル      Mutations in topoisomerase IIbeta result in a B cell immunodeficiency.
 雑誌        Nat Commun 10:3644 (2019)
 DOI:10.1038/s41467-019-11570-6
 PMID:11476068
 著者        Edery P, Le Deist F, Briard ML, Debre M, Munnich A, Griscelli C, Fischer A, Lyonnet S
 タイトル      B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
 雑誌        J Med Genet 38:488-93 (2001)
 DOI:10.1136/jmg.38.7.488","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02574"">H02574</a>",BILU 症候群,"BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency. It has been reported that autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription.",,"TOP2B [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7155"">7155</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K03164"">K03164</a>]",,,,,,"ICD-11: 4A01.3
 ICD-10: D82.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C563745"">C563745</a>
 OMIM: <a href=""https://www.omim.org/entry/609296"">609296</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31409799"">31409799</a>
 著者        Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hugle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM
 タイトル      Mutations in topoisomerase IIbeta result in a B cell immunodeficiency.
 雑誌        Nat Commun 10:3644 (2019)
 DOI:<a href=""https://doi.org/10.1038/s41467-019-11570-6"">10.1038/s41467-019-11570-6</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11476068"">11476068</a>
 著者        Edery P, Le Deist F, Briard ML, Debre M, Munnich A, Griscelli C, Fischer A, Lyonnet S
 タイトル      B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
 雑誌        J Med Genet 38:488-93 (2001)
 DOI:<a href=""https://doi.org/10.1136/jmg.38.7.488"">10.1136/jmg.38.7.488</a>"
H02575,"成人型乳糖不耐症
 下位グループ    ラクターゼ活性持続症",,,"Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults, high levels of lactase activity persist in adulthood. Several lactase persistence alleles in the MCM6 gene have been reported.",先天性代謝異常症,,MCM6 [HSA:4175] [KO:K02542],,,,,,"ICD-11: 5C61.6
 ICD-10: E73.8
 MeSH: C562601
 OMIM: 223100","PMID:22826639
 著者        Mattar R, de Campos Mazo DF, Carrilho FJ
 タイトル      Lactose intolerance: diagnosis, genetic, and clinical factors.
 雑誌        Clin Exp Gastroenterol 5:113-21 (2012)
 DOI:10.2147/CEG.S32368
 PMID:11788828
 著者        Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I
 タイトル      Identification of a variant associated with adult-type hypolactasia.
 雑誌        Nat Genet 30:233-7 (2002)
 DOI:10.1038/ng826
 PMID:12915462
 著者        Olds LC, Sibley E
 タイトル      Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
 雑誌        Hum Mol Genet 12:2333-40 (2003)
 DOI:10.1093/hmg/ddg244","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02575"">H02575</a>","成人型乳糖不耐症
 下位グループ    ラクターゼ活性持続症","Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults, high levels of lactase activity persist in adulthood. Several lactase persistence alleles in the MCM6 gene have been reported.",,"MCM6 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:4175"">4175</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K02542"">K02542</a>]",,,,,,"ICD-11: 5C61.6
 ICD-10: E73.8
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C562601"">C562601</a>
 OMIM: <a href=""https://www.omim.org/entry/223100"">223100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22826639"">22826639</a>
 著者        Mattar R, de Campos Mazo DF, Carrilho FJ
 タイトル      Lactose intolerance: diagnosis, genetic, and clinical factors.
 雑誌        Clin Exp Gastroenterol 5:113-21 (2012)
 DOI:<a href=""https://doi.org/10.2147/CEG.S32368"">10.2147/CEG.S32368</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/11788828"">11788828</a>
 著者        Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I
 タイトル      Identification of a variant associated with adult-type hypolactasia.
 雑誌        Nat Genet 30:233-7 (2002)
 DOI:<a href=""https://doi.org/10.1038/ng826"">10.1038/ng826</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12915462"">12915462</a>
 著者        Olds LC, Sibley E
 タイトル      Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
 雑誌        Hum Mol Genet 12:2333-40 (2003)
 DOI:<a href=""https://doi.org/10.1093/hmg/ddg244"">10.1093/hmg/ddg244</a>"
H02576,家族性皮膚毛細血管拡張症および癌症候群,,,"Familial cutaneous telangiectasia and cancer syndrome (FCTS) is an autosomal dominant disease caused by germline mutations in ATR. ATR is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair.",先天奇形,,ATR [HSA:545] [KO:K06640],,,,,,"ICD-11: LD2D.Y
 OMIM: 614564","PMID:22341969
 著者        Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA
 タイトル      Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
 雑誌        Am J Hum Genet 90:511-7 (2012)
 DOI:10.1016/j.ajhg.2012.01.007","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02576"">H02576</a>",家族性皮膚毛細血管拡張症および癌症候群,"Familial cutaneous telangiectasia and cancer syndrome (FCTS) is an autosomal dominant disease caused by germline mutations in ATR. ATR is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair.",,"ATR [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:545"">545</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06640"">K06640</a>]",,,,,,"ICD-11: LD2D.Y
 OMIM: <a href=""https://www.omim.org/entry/614564"">614564</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22341969"">22341969</a>
 著者        Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA
 タイトル      Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
 雑誌        Am J Hum Genet 90:511-7 (2012)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2012.01.007"">10.1016/j.ajhg.2012.01.007</a>"
H02577,カリオメガリック間質性腎炎,,,Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations in FAN1 cause KMIN. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia pathway.,泌尿器系疾患,,FAN1 [HSA:22909] [KO:K15363],,,,,,"ICD-11: GB55.Y
 ICD-10: N11.8
 MeSH: D009394
 OMIM: 614817","PMID:22772369
 著者        Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F
 タイトル      FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
 雑誌        Nat Genet 44:910-5 (2012)
 DOI:10.1038/ng.2347
 PMID:32111193
 著者        Law S, Gillmore J, Gilbertson JA, Bass P, Salama AD
 タイトル      Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.
 雑誌        BMC Nephrol 21:74 (2020)
 DOI:10.1186/s12882-020-01733-9","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02577"">H02577</a>",カリオメガリック間質性腎炎,Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations in FAN1 cause KMIN. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia pathway.,,"FAN1 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22909"">22909</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K15363"">K15363</a>]",,,,,,"ICD-11: GB55.Y
 ICD-10: N11.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009394"">D009394</a>
 OMIM: <a href=""https://www.omim.org/entry/614817"">614817</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/22772369"">22772369</a>
 著者        Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F
 タイトル      FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
 雑誌        Nat Genet 44:910-5 (2012)
 DOI:<a href=""https://doi.org/10.1038/ng.2347"">10.1038/ng.2347</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32111193"">32111193</a>
 著者        Law S, Gillmore J, Gilbertson JA, Bass P, Salama AD
 タイトル      Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.
 雑誌        BMC Nephrol 21:74 (2020)
 DOI:<a href=""https://doi.org/10.1186/s12882-020-01733-9"">10.1186/s12882-020-01733-9</a>"
H02578,低身長、小頭症および内分泌機能異常,,,"Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair.",先天奇形,,XRCC4 [HSA:7518] [KO:K10886],,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.1
 OMIM: 616541","PMID:25742519
 著者        de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A
 タイトル      An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
 雑誌        J Clin Endocrinol Metab 100:E789-98 (2015)
 DOI:10.1210/jc.2015-1098
 PMID:25728776
 著者        Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
 タイトル      Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
 雑誌        Am J Hum Genet 96:412-24 (2015)
 DOI:10.1016/j.ajhg.2015.01.013","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02578"">H02578</a>",低身長、小頭症および内分泌機能異常,"Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair.",,"XRCC4 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:7518"">7518</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10886"">K10886</a>]",,,,,,"ICD-11: LD2F.Y
 ICD-10: Q87.1
 OMIM: <a href=""https://www.omim.org/entry/616541"">616541</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25742519"">25742519</a>
 著者        de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A
 タイトル      An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
 雑誌        J Clin Endocrinol Metab 100:E789-98 (2015)
 DOI:<a href=""https://doi.org/10.1210/jc.2015-1098"">10.1210/jc.2015-1098</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/25728776"">25728776</a>
 著者        Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
 タイトル      Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
 雑誌        Am J Hum Genet 96:412-24 (2015)
 DOI:<a href=""https://doi.org/10.1016/j.ajhg.2015.01.013"">10.1016/j.ajhg.2015.01.013</a>"
H02579,"C3 腎症
 下位グループ    補体因子 H 欠乏症 (CFHD)
 補体因子 I 欠乏症 (CFID)
 上位グループ    膜性増殖性糸球体腎炎 [DS:H01726]",,,"C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies to the C3 and C5 convertases of complement are the most commonly detected drivers of complement dysregulation, although genetic mutations in complement genes can also be found.",免疫系疾患; 泌尿器系疾患,,"(C3G1) CFH [HSA:3075] [KO:K04004]
 (C3G2) CFI [HSA:3426] [KO:K01333]
 (C3G3) CFHR5 [HSA:81494] [KO:K23817]",,,,,,"ICD-11: MF8Y
 ICD-10: N03
 MeSH: D015432
 OMIM: 609814 610984 614809","PMID:35734939
 著者        Heiderscheit AK, Hauer JJ, Smith RJH
 タイトル      C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease.
 雑誌        Am J Med Genet C Semin Med Genet (2022)
 DOI:10.1002/ajmg.c.31986
 PMID:9312129 (C3G1)
 著者        Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR
 タイトル      Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.
 雑誌        J Biol Chem 272:25168-75 (1997)
 DOI:10.1074/jbc.272.40.25168
 PMID:8613545 (C3G2)
 著者        Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ
 タイトル      The molecular basis of hereditary complement factor I deficiency.
 雑誌        J Clin Invest 97:925-33 (1996)
 DOI:10.1172/JCI118515
 PMID:20800271 (C3G3)
 著者        Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Fremeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC
 タイトル      Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
 雑誌        Lancet 376:794-801 (2010)
 DOI:10.1016/S0140-6736(10)60670-8","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02579"">H02579</a>","C3 腎症
 下位グループ    補体因子 H 欠乏症 (CFHD)
 補体因子 I 欠乏症 (CFID)
 上位グループ    膜性増殖性糸球体腎炎 [DS:<a href=""https://www.genome.jp/dbget-bin/www_bget?ds_ja:H01726"">H01726</a>]","C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies to the C3 and C5 convertases of complement are the most commonly detected drivers of complement dysregulation, although genetic mutations in complement genes can also be found.",,"(C3G1) CFH [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3075"">3075</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K04004"">K04004</a>]
 (C3G2) CFI [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:3426"">3426</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K01333"">K01333</a>]
 (C3G3) CFHR5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:81494"">81494</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K23817"">K23817</a>]",,,,,,"ICD-11: MF8Y
 ICD-10: N03
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D015432"">D015432</a>
 OMIM: <a href=""https://www.omim.org/entry/609814"">609814</a> <a href=""https://www.omim.org/entry/610984"">610984</a> <a href=""https://www.omim.org/entry/614809"">614809</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/35734939"">35734939</a>
 著者        Heiderscheit AK, Hauer JJ, Smith RJH
 タイトル      C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease.
 雑誌        Am J Med Genet C Semin Med Genet (2022)
 DOI:<a href=""https://doi.org/10.1002/ajmg.c.31986"">10.1002/ajmg.c.31986</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/9312129"">9312129</a> (C3G1)
 著者        Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR
 タイトル      Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.
 雑誌        J Biol Chem 272:25168-75 (1997)
 DOI:<a href=""https://doi.org/10.1074/jbc.272.40.25168"">10.1074/jbc.272.40.25168</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/8613545"">8613545</a> (C3G2)
 著者        Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ
 タイトル      The molecular basis of hereditary complement factor I deficiency.
 雑誌        J Clin Invest 97:925-33 (1996)
 DOI:<a href=""https://doi.org/10.1172/JCI118515"">10.1172/JCI118515</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/20800271"">20800271</a> (C3G3)
 著者        Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Fremeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC
 タイトル      Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
 雑誌        Lancet 376:794-801 (2010)
 DOI:<a href=""https://doi.org/10.1016/S0140-6736(10)60670-8"">10.1016/S0140-6736(10)60670-8</a>"
H02580,痙性対麻痺を伴う遺伝性感覚性ニューロパチー,,,Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive sensory neuropathy associated with a spastic paraplegia and a mutilating lower limb acropathy. It has been reported that mutations in CCT5 cause this disease. CCT5 gene encodes the epsilon subunit of the cytosolic chaperonin-containing t- complex peptide-1.,神経系疾患,,CCT5 [HSA:22948] [KO:K09497],,,,,,"ICD-11: 8C21
 ICD-10: G60.8
 MeSH: D009477
 OMIM: 256840","PMID:7922454
 著者        Thomas PK, Misra VP, King RH, Muddle JR, Wroe S, Bhatia KP, Anderson M, Cabello A, Vilchez J, Wadia NH
 タイトル      Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
 雑誌        Brain 117 ( Pt 4):651-9 (1994)
 DOI:10.1093/brain/117.4.651
 PMID:16399879
 著者        Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
 タイトル      Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
 雑誌        J Med Genet 43:441-3 (2006)
 DOI:10.1136/jmg.2005.039230","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02580"">H02580</a>",痙性対麻痺を伴う遺伝性感覚性ニューロパチー,Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive sensory neuropathy associated with a spastic paraplegia and a mutilating lower limb acropathy. It has been reported that mutations in CCT5 cause this disease. CCT5 gene encodes the epsilon subunit of the cytosolic chaperonin-containing t- complex peptide-1.,,"CCT5 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:22948"">22948</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K09497"">K09497</a>]",,,,,,"ICD-11: 8C21
 ICD-10: G60.8
 MeSH: <a href=""http://togodb.biosciencedbc.jp/togodb/show/kegg_medicus_drug/D009477"">D009477</a>
 OMIM: <a href=""https://www.omim.org/entry/256840"">256840</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/7922454"">7922454</a>
 著者        Thomas PK, Misra VP, King RH, Muddle JR, Wroe S, Bhatia KP, Anderson M, Cabello A, Vilchez J, Wadia NH
 タイトル      Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
 雑誌        Brain 117 ( Pt 4):651-9 (1994)
 DOI:<a href=""https://doi.org/10.1093/brain/117.4.651"">10.1093/brain/117.4.651</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/16399879"">16399879</a>
 著者        Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
 タイトル      Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
 雑誌        J Med Genet 43:441-3 (2006)
 DOI:<a href=""https://doi.org/10.1136/jmg.2005.039230"">10.1136/jmg.2005.039230</a>"
H02581,Juberg-Hayward 症候群,,,"Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation.",先天奇形,,ESCO2 [HSA:157570] [KO:K11268],,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: C537690
 OMIM: 216100","PMID:12966528
 著者        Hedera P, Innis JW
 タイトル      Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.
 雑誌        Am J Med Genet A 122A:257-60 (2003)
 DOI:10.1002/ajmg.a.20263
 PMID:32255174
 著者        Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
 タイトル      Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
 雑誌        Eur J Orthod 43:45-50 (2021)
 DOI:10.1093/ejo/cjaa023","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02581"">H02581</a>",Juberg-Hayward 症候群,"Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation.",,"ESCO2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:157570"">157570</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K11268"">K11268</a>]",,,,,,"ICD-11: LD2F.1Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537690"">C537690</a>
 OMIM: <a href=""https://www.omim.org/entry/216100"">216100</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/12966528"">12966528</a>
 著者        Hedera P, Innis JW
 タイトル      Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.
 雑誌        Am J Med Genet A 122A:257-60 (2003)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.20263"">10.1002/ajmg.a.20263</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/32255174"">32255174</a>
 著者        Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
 タイトル      Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
 雑誌        Eur J Orthod 43:45-50 (2021)
 DOI:<a href=""https://doi.org/10.1093/ejo/cjaa023"">10.1093/ejo/cjaa023</a>"
H02582,Mullegama-Klein-Martinez 症候群,,,"Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in STAG2 cause this disease. STAG2 encodes a cohesin subunit.",先天奇形,,STAG2 [HSA:10735] [KO:K06671],,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: 301022","PMID:28296084
 著者        Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA
 タイトル      De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
 雑誌        Am J Med Genet A 173:1319-1327 (2017)
 DOI:10.1002/ajmg.a.38207
 PMID:29263825
 著者        Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ
 タイトル      Familial STAG2 germline mutation defines a new human cohesinopathy.
 雑誌        NPJ Genom Med 2:7 (2017)
 DOI:10.1038/s41525-017-0009-4","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02582"">H02582</a>",Mullegama-Klein-Martinez 症候群,"Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in STAG2 cause this disease. STAG2 encodes a cohesin subunit.",,"STAG2 [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:10735"">10735</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K06671"">K06671</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q89.8
 OMIM: <a href=""https://www.omim.org/entry/301022"">301022</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/28296084"">28296084</a>
 著者        Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA
 タイトル      De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
 雑誌        Am J Med Genet A 173:1319-1327 (2017)
 DOI:<a href=""https://doi.org/10.1002/ajmg.a.38207"">10.1002/ajmg.a.38207</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/29263825"">29263825</a>
 著者        Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ
 タイトル      Familial STAG2 germline mutation defines a new human cohesinopathy.
 雑誌        NPJ Genom Med 2:7 (2017)
 DOI:<a href=""https://doi.org/10.1038/s41525-017-0009-4"">10.1038/s41525-017-0009-4</a>"
H02583,"X-連鎖性知的障害-筋緊張低下顔貌症候群
 下位グループ    Chudley-Lowry 症候群
 Smith-Fineman-Myers 症候群 (SFM1)",,,"X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial features. It has been reported that mutations in ATRX gene cause this syndrome.",先天奇形,,ATRX [HSA:546] [KO:K10779],,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.0
 MeSH: C537457
 OMIM: 309580","PMID:15508018
 著者        Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattei MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE
 タイトル      Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
 雑誌        Eur J Hum Genet 13:176-83 (2005)
 DOI:10.1038/sj.ejhg.5201303
 PMID:31746429
 著者        Li L, Yu J, Zhang X, Han M, Liu W, Li H, Liu S
 タイトル      A novel ATRX mutation causes SmithFinemanMyers syndrome in a Chinese family.
 雑誌        Mol Med Rep 21:387-392 (2020)
 DOI:10.3892/mmr.2019.10818","<a href=""https://www.kegg.jp/dbget-bin/www_bget?ds_ja:H02583"">H02583</a>","X-連鎖性知的障害-筋緊張低下顔貌症候群
 下位グループ    Chudley-Lowry 症候群
 Smith-Fineman-Myers 症候群 (SFM1)","X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial features. It has been reported that mutations in ATRX gene cause this syndrome.",,"ATRX [HSA:<a href=""https://www.genome.jp/dbget-bin/www_bget?hsa_ja:546"">546</a>] [KO:<a href=""https://www.genome.jp/dbget-bin/www_bget?ko_ja:K10779"">K10779</a>]",,,,,,"ICD-11: LD90.Y
 ICD-10: Q87.0
 MeSH: <a href=""http://www.kegg.jp/dbget-bin/www_bget?cpd_ja:C537457"">C537457</a>
 OMIM: <a href=""https://www.omim.org/entry/309580"">309580</a>","PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/15508018"">15508018</a>
 著者        Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattei MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE
 タイトル      Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
 雑誌        Eur J Hum Genet 13:176-83 (2005)
 DOI:<a href=""https://doi.org/10.1038/sj.ejhg.5201303"">10.1038/sj.ejhg.5201303</a>
 PMID:<a href=""https://pubmed.ncbi.nlm.nih.gov/31746429"">31746429</a>
 著者        Li L, Yu J, Zhang X, Han M, Liu W, Li H, Liu S
 タイトル      A novel ATRX mutation causes SmithFinemanMyers syndrome in a Chinese family.
 雑誌        Mol Med Rep 21:387-392 (2020)
 DOI:<a href=""https://doi.org/10.3892/mmr.2019.10818"">10.3892/mmr.2019.10818</a>"
